|
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln)
|
rs1516446
|
0.99509
|
|
NM_000090.4(COL3A1):c.2337+23T>A
|
rs2271682
|
0.71236
|
|
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=)
|
rs1801184
|
0.27758
|
|
NM_000090.4(COL3A1):c.3824-31C>A
|
rs10204508
|
0.23605
|
|
NM_000090.4(COL3A1):c.1978-11C>T
|
rs13306272
|
0.23521
|
|
NM_000090.4(COL3A1):c.*799_*800del
|
rs13306265
|
0.23375
|
|
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)
|
rs1800255
|
0.21080
|
|
NM_000090.4(COL3A1):c.1816-14G>C
|
rs7579815
|
0.15982
|
|
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=)
|
rs7579903
|
0.15955
|
|
NM_000090.4(COL3A1):c.1293+15T>A
|
rs2271679
|
0.13320
|
|
NM_000090.4(COL3A1):c.1815+18A>G
|
rs28413125
|
0.08030
|
|
NM_000090.4(COL3A1):c.*43A>G
|
rs8224
|
0.02368
|
|
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=)
|
rs41272837
|
0.01840
|
|
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=)
|
rs80302667
|
0.01481
|
|
NM_000090.4(COL3A1):c.3525+19del
|
rs138061246
|
0.01120
|
|
NM_000090.4(COL3A1):c.80-16C>T
|
rs28763875
|
0.00914
|
|
NM_000090.4(COL3A1):c.*34T>G
|
rs191843385
|
0.00838
|
|
NM_000090.4(COL3A1):c.583-8C>T
|
rs10166835
|
0.00713
|
|
NM_000090.4(COL3A1):c.*88C>T
|
rs11162
|
0.00708
|
|
NM_000090.4(COL3A1):c.1816-19T>C
|
rs114299724
|
0.00647
|
|
NM_000090.4(COL3A1):c.*592T>A
|
rs115345151
|
0.00630
|
|
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)
|
rs41263773
|
0.00608
|
|
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)
|
rs35795890
|
0.00513
|
|
NM_000090.4(COL3A1):c.4059= (p.His1353=)
|
rs1516446
|
0.00491
|
|
NM_000090.4(COL3A1):c.-80G>A
|
rs41265575
|
0.00470
|
|
NM_000090.4(COL3A1):c.2022+5T>C
|
rs41263765
|
0.00448
|
|
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=)
|
rs41263751
|
0.00443
|
|
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=)
|
rs35759441
|
0.00430
|
|
NM_000090.4(COL3A1):c.3039+16T>G
|
rs41264443
|
0.00259
|
|
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)
|
rs41263757
|
0.00244
|
|
NM_000090.4(COL3A1):c.*828G>T
|
rs372150712
|
0.00194
|
|
NM_000090.4(COL3A1):c.*674G>A
|
rs190903102
|
0.00185
|
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
|
NM_000090.4(COL3A1):c.130G>A (p.Val44Ile)
|
rs79632685
|
0.00162
|
|
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val)
|
rs2271683
|
0.00158
|
|
NM_000090.4(COL3A1):c.*923A>T
|
rs146222772
|
0.00146
|
|
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala)
|
rs41263775
|
0.00146
|
|
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=)
|
rs199727625
|
0.00104
|
|
NM_000090.4(COL3A1):c.1051-13G>A
|
rs371934572
|
0.00093
|
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
|
NM_000090.3(COL3A1):c.-118T>G
|
rs549951495
|
0.00069
|
|
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)
|
rs111391222
|
0.00061
|
|
NM_000090.4(COL3A1):c.3202-14del
|
rs767971610
|
0.00059
|
|
NM_000090.4(COL3A1):c.114C>G (p.Ser38=)
|
rs141241764
|
0.00054
|
|
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=)
|
rs149790711
|
0.00053
|
|
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=)
|
rs34781844
|
0.00050
|
|
NM_000090.4(COL3A1):c.1476A>C (p.Gly492=)
|
rs111683983
|
0.00045
|
|
NM_000090.4(COL3A1):c.*467T>A
|
rs886055341
|
0.00036
|
|
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=)
|
rs184402915
|
0.00029
|
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
|
NM_000090.4(COL3A1):c.*622T>C
|
rs572369155
|
0.00024
|
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
|
NM_000090.4(COL3A1):c.1977+9C>T
|
rs184223621
|
0.00021
|
|
NM_000090.4(COL3A1):c.799-11A>T
|
rs200148262
|
0.00021
|
|
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)
|
rs111567071
|
0.00018
|
|
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=)
|
rs779774302
|
0.00017
|
|
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)
|
rs371583734
|
0.00017
|
|
NM_000090.4(COL3A1):c.1617C>T (p.Pro539=)
|
rs141091206
|
0.00016
|
|
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=)
|
rs112164939
|
0.00016
|
|
NM_000090.4(COL3A1):c.2229+6G>A
|
rs10186160
|
0.00015
|
|
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly)
|
rs112371422
|
0.00015
|
|
NM_000090.4(COL3A1):c.1348-18A>G
|
rs115062076
|
0.00014
|
|
NM_000090.4(COL3A1):c.3040-18T>G
|
rs369590025
|
0.00014
|
|
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu)
|
rs201880122
|
0.00014
|
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
|
NM_000090.4(COL3A1):c.2733T>C (p.Thr911=)
|
rs138961881
|
0.00013
|
|
NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr)
|
rs201220788
|
0.00013
|
|
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00013
|
|
NM_000090.4(COL3A1):c.*406A>G
|
rs770571552
|
0.00012
|
|
NM_000090.4(COL3A1):c.1854A>T (p.Gly618=)
|
rs370034518
|
0.00012
|
|
NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=)
|
rs146837092
|
0.00012
|
|
NM_000090.4(COL3A1):c.1347+6T>C
|
rs373343032
|
0.00011
|
|
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His)
|
rs144260440
|
0.00011
|
|
NM_000090.4(COL3A1):c.1697C>T (p.Pro566Leu)
|
rs150543864
|
0.00011
|
|
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu)
|
rs373838193
|
0.00011
|
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
|
NM_000090.4(COL3A1):c.838G>A (p.Ala280Thr)
|
rs142042452
|
0.00011
|
|
NM_000090.4(COL3A1):c.120G>A (p.Ala40=)
|
rs138115610
|
0.00010
|
|
NM_000090.4(COL3A1):c.1707T>C (p.Ser569=)
|
rs141542949
|
0.00010
|
|
NM_000090.4(COL3A1):c.2712C>T (p.Pro904=)
|
rs375673185
|
0.00010
|
|
NM_000090.4(COL3A1):c.3525+19G>A
|
rs781061046
|
0.00010
|
|
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr)
|
rs776478974
|
0.00010
|
|
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His)
|
rs138533702
|
0.00010
|
|
NM_000090.4(COL3A1):c.-101G>A
|
rs41265577
|
0.00009
|
|
NM_000090.4(COL3A1):c.1701G>A (p.Gly567=)
|
rs765802289
|
0.00009
|
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
|
NM_000090.4(COL3A1):c.3256-12A>G
|
rs763415324
|
0.00009
|
|
NM_000090.4(COL3A1):c.3694G>A (p.Asp1232Asn)
|
rs147663769
|
0.00009
|
|
NM_000090.4(COL3A1):c.528+4C>T
|
rs528758308
|
0.00009
|
|
NM_000090.4(COL3A1):c.1050+6C>T
|
rs528634384
|
0.00008
|
|
NM_000090.4(COL3A1):c.1977+10G>A
|
rs768976215
|
0.00008
|
|
NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser)
|
rs771585795
|
0.00008
|
|
NM_000090.4(COL3A1):c.3630T>G (p.Gly1210=)
|
rs771034601
|
0.00008
|
|
NM_000090.4(COL3A1):c.*72A>G
|
rs928894236
|
0.00007
|
|
NM_000090.4(COL3A1):c.2277C>T (p.Gly759=)
|
rs763343051
|
0.00007
|
|
NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser)
|
rs769622439
|
0.00007
|
|
NM_000090.4(COL3A1):c.4026T>C (p.Asn1342=)
|
rs147250987
|
0.00007
|
|
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn)
|
rs756125442
|
0.00007
|
|
NM_000090.4(COL3A1):c.952-7T>A
|
rs371250417
|
0.00007
|
|
NM_000090.4(COL3A1):c.1128C>T (p.His376=)
|
rs771015742
|
0.00006
|
|
NM_000090.4(COL3A1):c.1150-13T>C
|
rs201839712
|
0.00006
|
|
NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser)
|
rs757192342
|
0.00006
|
|
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)
|
rs200394946
|
0.00006
|
|
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His)
|
rs568986390
|
0.00006
|
|
NM_000090.4(COL3A1):c.1585G>A (p.Val529Ile)
|
rs140257722
|
0.00006
|
|
NM_000090.4(COL3A1):c.1586T>C (p.Val529Ala)
|
rs201980471
|
0.00006
|
|
NM_000090.4(COL3A1):c.1995C>T (p.Ala665=)
|
rs149093989
|
0.00006
|
|
NM_000090.4(COL3A1):c.217G>C (p.Asp73His)
|
rs200246388
|
0.00006
|
|
NM_000090.4(COL3A1):c.2355C>T (p.Pro785=)
|
rs148901664
|
0.00006
|
|
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu)
|
rs139610730
|
0.00006
|
|
NM_000090.4(COL3A1):c.2688C>T (p.Ser896=)
|
rs112723105
|
0.00006
|
|
NM_000090.4(COL3A1):c.2824-5A>T
|
rs373994011
|
0.00006
|
|
NM_000090.4(COL3A1):c.2913T>G (p.Pro971=)
|
rs367872728
|
0.00006
|
|
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)
|
rs139619440
|
0.00006
|
|
NM_000090.4(COL3A1):c.3228C>T (p.Pro1076=)
|
rs200917999
|
0.00006
|
|
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=)
|
rs148918486
|
0.00006
|
|
NM_000090.4(COL3A1):c.3418-12A>G
|
rs373367218
|
0.00006
|
|
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln)
|
rs886038983
|
0.00006
|
|
NM_000090.4(COL3A1):c.3993C>T (p.Ser1331=)
|
rs750815694
|
0.00006
|
|
NM_000090.4(COL3A1):c.546C>T (p.Pro182=)
|
rs754584062
|
0.00006
|
|
NM_000090.4(COL3A1):c.744+11A>G
|
rs375977001
|
0.00006
|
|
NM_000090.4(COL3A1):c.873C>T (p.Gly291=)
|
rs138569287
|
0.00006
|
|
NM_000090.4(COL3A1):c.898-5T>C
|
rs535434618
|
0.00006
|
|
NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg)
|
rs374537884
|
0.00006
|
|
NM_000090.4(COL3A1):c.1150-20T>C
|
rs377676752
|
0.00005
|
|
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=)
|
rs745743884
|
0.00005
|
|
NM_000090.4(COL3A1):c.1235C>A (p.Ala412Asp)
|
rs1057519250
|
0.00005
|
|
NM_000090.4(COL3A1):c.1238G>A (p.Arg413Gln)
|
rs200446048
|
0.00005
|
|
NM_000090.4(COL3A1):c.2241C>T (p.Gly747=)
|
rs745440847
|
0.00005
|
|
NM_000090.4(COL3A1):c.2553+7T>C
|
rs951182466
|
0.00005
|
|
NM_000090.4(COL3A1):c.1071G>C (p.Gly357=)
|
rs373908002
|
0.00004
|
|
NM_000090.4(COL3A1):c.1261G>A (p.Ala421Thr)
|
rs372329498
|
0.00004
|
|
NM_000090.4(COL3A1):c.1348-13T>C
|
rs753505868
|
0.00004
|
|
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val)
|
rs770168441
|
0.00004
|
|
NM_000090.4(COL3A1):c.1743C>T (p.Pro581=)
|
rs140229974
|
0.00004
|
|
NM_000090.4(COL3A1):c.2121+18C>A
|
rs587780904
|
0.00004
|
|
NM_000090.4(COL3A1):c.2148T>C (p.Pro716=)
|
rs146492493
|
0.00004
|
|
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu)
|
rs886038849
|
0.00004
|
|
NM_000090.4(COL3A1):c.272C>T (p.Pro91Leu)
|
rs534898281
|
0.00004
|
|
NM_000090.4(COL3A1):c.2802G>A (p.Ser934=)
|
rs113870310
|
0.00004
|
|
NM_000090.4(COL3A1):c.2931+8T>C
|
rs949146538
|
0.00004
|
|
NM_000090.4(COL3A1):c.3066A>G (p.Pro1022=)
|
rs756680770
|
0.00004
|
|
NM_000090.4(COL3A1):c.3202-17G>A
|
rs769789431
|
0.00004
|
|
NM_000090.4(COL3A1):c.3245G>A (p.Arg1082Gln)
|
rs367754862
|
0.00004
|
|
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)
|
rs730880062
|
0.00004
|
|
NM_000090.4(COL3A1):c.3336T>C (p.Pro1112=)
|
rs749357239
|
0.00004
|
|
NM_000090.4(COL3A1):c.3433A>G (p.Ser1145Gly)
|
rs147706051
|
0.00004
|
|
NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg)
|
rs769100283
|
0.00004
|
|
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr)
|
rs550665335
|
0.00004
|
|
NM_000090.4(COL3A1):c.4075C>A (p.Leu1359Ile)
|
rs1400489265
|
0.00004
|
|
NM_000090.4(COL3A1):c.4159A>G (p.Lys1387Glu)
|
rs145138575
|
0.00004
|
|
NM_000090.4(COL3A1):c.4255-14G>A
|
rs758216726
|
0.00004
|
|
NM_000090.4(COL3A1):c.87A>C (p.Glu29Asp)
|
rs760482912
|
0.00004
|
|
NM_000090.4(COL3A1):c.898-20A>G
|
rs368279636
|
0.00004
|
|
NM_000090.4(COL3A1):c.928C>T (p.Arg310Trp)
|
rs757062073
|
0.00004
|
|
NM_000090.4(COL3A1):c.929G>A (p.Arg310Gln)
|
rs778497667
|
0.00004
|
|
NM_000090.4(COL3A1):c.1176T>C (p.Pro392=)
|
rs778702019
|
0.00003
|
|
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=)
|
rs755731385
|
0.00003
|
|
NM_000090.4(COL3A1):c.1472G>A (p.Arg491Gln)
|
rs774551212
|
0.00003
|
|
NM_000090.4(COL3A1):c.1509+2T>C
|
rs1553508039
|
0.00003
|
|
NM_000090.4(COL3A1):c.1584C>T (p.Gly528=)
|
rs946270867
|
0.00003
|
|
NM_000090.4(COL3A1):c.1662C>T (p.Pro554=)
|
rs373963384
|
0.00003
|
|
NM_000090.4(COL3A1):c.1787G>A (p.Arg596Gln)
|
rs774632188
|
0.00003
|
|
NM_000090.4(COL3A1):c.1816-4T>C
|
rs765128089
|
0.00003
|
|
NM_000090.4(COL3A1):c.2022+6A>T
|
rs368117488
|
0.00003
|
|
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser)
|
rs372027308
|
0.00003
|
|
NM_000090.4(COL3A1):c.2125G>T (p.Ala709Ser)
|
rs201468881
|
0.00003
|
|
NM_000090.4(COL3A1):c.2274T>C (p.Asp758=)
|
rs1060503872
|
0.00003
|
|
NM_000090.4(COL3A1):c.2446-10T>C
|
rs1060500195
|
0.00003
|
|
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=)
|
rs794727586
|
0.00003
|
|
NM_000090.4(COL3A1):c.2608-19A>C
|
rs372917900
|
0.00003
|
|
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=)
|
rs369992399
|
0.00003
|
|
NM_000090.4(COL3A1):c.3466C>T (p.His1156Tyr)
|
rs776814693
|
0.00003
|
|
NM_000090.4(COL3A1):c.3532C>T (p.Pro1178Ser)
|
rs759565407
|
0.00003
|
|
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=)
|
rs574331101
|
0.00003
|
|
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg)
|
rs778419091
|
0.00003
|
|
NM_000090.4(COL3A1):c.39C>T (p.Leu13=)
|
rs1343634872
|
0.00003
|
|
NM_000090.4(COL3A1):c.447+13C>T
|
rs751726448
|
0.00003
|
|
NM_000090.4(COL3A1):c.708C>T (p.Pro236=)
|
rs775390389
|
0.00003
|
|
NM_000090.4(COL3A1):c.853-7T>C
|
rs377063305
|
0.00003
|
|
NM_000090.4(COL3A1):c.956C>T (p.Ala319Val)
|
rs754503346
|
0.00003
|
|
NM_000090.4(COL3A1):c.*89G>A
|
rs886055335
|
0.00002
|
|
NM_000090.4(COL3A1):c.1023C>T (p.Ala341=)
|
rs373392096
|
0.00002
|
|
NM_000090.4(COL3A1):c.1038C>T (p.Ser346=)
|
rs772423521
|
0.00002
|
|
NM_000090.4(COL3A1):c.1234G>T (p.Ala412Ser)
|
rs768314657
|
0.00002
|
|
NM_000090.4(COL3A1):c.1283G>A (p.Arg428Gln)
|
rs1021622002
|
0.00002
|
|
NM_000090.4(COL3A1):c.1464T>C (p.Pro488=)
|
rs377706172
|
0.00002
|
|
NM_000090.4(COL3A1):c.1473A>C (p.Arg491=)
|
rs759650260
|
0.00002
|
|
NM_000090.4(COL3A1):c.1525C>T (p.Arg509Cys)
|
rs1485092842
|
0.00002
|
|
NM_000090.4(COL3A1):c.1746T>C (p.Gly582=)
|
rs1373257114
|
0.00002
|
|
NM_000090.4(COL3A1):c.1860A>T (p.Pro620=)
|
rs141128796
|
0.00002
|
|
NM_000090.4(COL3A1):c.186C>T (p.Cys62=)
|
rs764749176
|
0.00002
|
|
NM_000090.4(COL3A1):c.1873C>T (p.Pro625Ser)
|
rs747419192
|
0.00002
|
|
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu)
|
rs1466862530
|
0.00002
|
|
NM_000090.4(COL3A1):c.1895C>T (p.Thr632Ile)
|
rs769039976
|
0.00002
|
|
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)
|
rs755528878
|
0.00002
|
|
NM_000090.4(COL3A1):c.2109C>T (p.Pro703=)
|
rs746947080
|
0.00002
|
|
NM_000090.4(COL3A1):c.2110G>A (p.Glu704Lys)
|
rs863223362
|
0.00002
|
|
NM_000090.4(COL3A1):c.2187A>G (p.Gly729=)
|
rs772997837
|
0.00002
|
|
NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser)
|
rs771671892
|
0.00002
|
|
NM_000090.4(COL3A1):c.2394T>C (p.Gly798=)
|
rs886038982
|
0.00002
|
|
NM_000090.4(COL3A1):c.2608-10C>T
|
rs1217009146
|
0.00002
|
|
NM_000090.4(COL3A1):c.2823+20T>A
|
rs577105300
|
0.00002
|
|
NM_000090.4(COL3A1):c.2958C>T (p.Asn986=)
|
rs41264441
|
0.00002
|
|
NM_000090.4(COL3A1):c.3001C>G (p.Pro1001Ala)
|
rs777180110
|
0.00002
|
|
NM_000090.4(COL3A1):c.300T>C (p.Asn100=)
|
rs776373729
|
0.00002
|
|
NM_000090.4(COL3A1):c.3057T>C (p.Asp1019=)
|
rs151192026
|
0.00002
|
|
NM_000090.4(COL3A1):c.3069C>A (p.Gly1023=)
|
rs778417073
|
0.00002
|
|
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr)
|
rs775562650
|
0.00002
|
|
NM_000090.4(COL3A1):c.3411C>T (p.Gly1137=)
|
rs776330422
|
0.00002
|
|
NM_000090.4(COL3A1):c.3444T>C (p.Pro1148=)
|
rs776077444
|
0.00002
|
|
NM_000090.4(COL3A1):c.3461G>C (p.Ser1154Thr)
|
rs147054108
|
0.00002
|
|
NM_000090.4(COL3A1):c.3484C>T (p.Pro1162Ser)
|
rs762147747
|
0.00002
|
|
NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln)
|
rs369494336
|
0.00002
|
|
NM_000090.4(COL3A1):c.3526-16G>A
|
rs373856456
|
0.00002
|
|
NM_000090.4(COL3A1):c.3574G>A (p.Ala1192Thr)
|
rs141587182
|
0.00002
|
|
NM_000090.4(COL3A1):c.3629G>A (p.Gly1210Asp)
|
rs749543804
|
0.00002
|
|
NM_000090.4(COL3A1):c.3653C>T (p.Pro1218Leu)
|
rs763901831
|
0.00002
|
|
NM_000090.4(COL3A1):c.3764G>A (p.Arg1255His)
|
rs368119434
|
0.00002
|
|
NM_000090.4(COL3A1):c.3776C>T (p.Ala1259Val)
|
rs148387626
|
0.00002
|
|
NM_000090.4(COL3A1):c.4011+3A>G
|
rs112254545
|
0.00002
|
|
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=)
|
rs766750333
|
0.00002
|
|
NM_000090.4(COL3A1):c.4038T>C (p.Pro1346=)
|
rs113753099
|
0.00002
|
|
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln)
|
rs745656610
|
0.00002
|
|
NM_000090.4(COL3A1):c.4176G>A (p.Leu1392=)
|
rs758221289
|
0.00002
|
|
NM_000090.4(COL3A1):c.432C>T (p.Cys144=)
|
rs539430522
|
0.00002
|
|
NM_000090.4(COL3A1):c.4338C>T (p.Pro1446=)
|
rs376207711
|
0.00002
|
|
NM_000090.4(COL3A1):c.4341T>C (p.Tyr1447=)
|
rs773400185
|
0.00002
|
|
NM_000090.4(COL3A1):c.4346T>C (p.Ile1449Thr)
|
rs932369090
|
0.00002
|
|
NM_000090.4(COL3A1):c.4378G>A (p.Val1460Ile)
|
rs561556753
|
0.00002
|
|
NM_000090.4(COL3A1):c.528+9A>T
|
rs746532251
|
0.00002
|
|
NM_000090.4(COL3A1):c.582+12C>T
|
rs41272799
|
0.00002
|
|
NM_000090.4(COL3A1):c.599A>C (p.Gln200Pro)
|
rs780921226
|
0.00002
|
|
NM_000090.4(COL3A1):c.690+15C>T
|
rs374426800
|
0.00002
|
|
NM_000090.4(COL3A1):c.691-8C>G
|
rs749433733
|
0.00002
|
|
NM_000090.4(COL3A1):c.696A>G (p.Glu232=)
|
rs193922177
|
0.00002
|
|
NM_000090.4(COL3A1):c.804C>T (p.Phe268=)
|
rs267599121
|
0.00002
|
|
NM_000090.4(COL3A1):c.874G>A (p.Glu292Lys)
|
rs138818489
|
0.00002
|
|
NM_000090.4(COL3A1):c.923G>A (p.Arg308Gln)
|
rs753589858
|
0.00002
|
|
NM_000090.4(COL3A1):c.969C>T (p.Asp323=)
|
rs779278835
|
0.00002
|
|
NM_000090.4(COL3A1):c.*643G>A
|
rs1688748242
|
0.00001
|
|
NM_000090.4(COL3A1):c.*740A>T
|
rs1005052846
|
0.00001
|
|
NM_000090.4(COL3A1):c.*818T>C
|
rs886055344
|
0.00001
|
|
NM_000090.4(COL3A1):c.-10A>G
|
rs41272793
|
0.00001
|
|
NM_000090.4(COL3A1):c.1004C>A (p.Pro335His)
|
rs1688217356
|
0.00001
|
|
NM_000090.4(COL3A1):c.101A>G (p.His34Arg)
|
rs752110396
|
0.00001
|
|
NM_000090.4(COL3A1):c.1050+7_1050+8del
|
rs759415640
|
0.00001
|
|
NM_000090.4(COL3A1):c.1075C>G (p.Pro359Ala)
|
rs574831241
|
0.00001
|
|
NM_000090.4(COL3A1):c.1080T>C (p.Gly360=)
|
rs1231189635
|
0.00001
|
|
NM_000090.4(COL3A1):c.1103G>A (p.Arg368Lys)
|
rs781216305
|
0.00001
|
|
NM_000090.4(COL3A1):c.1109A>G (p.Glu370Gly)
|
rs748323501
|
0.00001
|
|
NM_000090.4(COL3A1):c.1129G>A (p.Ala377Thr)
|
rs1248348633
|
0.00001
|
|
NM_000090.4(COL3A1):c.113C>A (p.Ser38Tyr)
|
rs755509578
|
0.00001
|
|
NM_000090.4(COL3A1):c.1149+3A>G
|
rs1466133249
|
0.00001
|
|
NM_000090.4(COL3A1):c.1150-19C>T
|
rs1259944548
|
0.00001
|
|
NM_000090.4(COL3A1):c.1150-4T>G
|
rs756350810
|
0.00001
|
|
NM_000090.4(COL3A1):c.1189G>A (p.Glu397Lys)
|
rs187907868
|
0.00001
|
|
NM_000090.4(COL3A1):c.118G>A (p.Ala40Thr)
|
rs763720540
|
0.00001
|
|
NM_000090.4(COL3A1):c.1194+9T>C
|
rs1244921213
|
0.00001
|
|
NM_000090.4(COL3A1):c.1197T>C (p.Gly399=)
|
rs892020201
|
0.00001
|
|
NM_000090.4(COL3A1):c.1200C>T (p.Pro400=)
|
rs557759394
|
0.00001
|
|
NM_000090.4(COL3A1):c.1201G>A (p.Ala401Thr)
|
rs373858715
|
0.00001
|
|
NM_000090.4(COL3A1):c.1207A>G (p.Ile403Val)
|
rs1372036761
|
0.00001
|
|
NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr)
|
rs794728035
|
0.00001
|
|
NM_000090.4(COL3A1):c.1288G>A (p.Gly430Ser)
|
rs1688253514
|
0.00001
|
|
NM_000090.4(COL3A1):c.1294-8T>C
|
rs1226243055
|
0.00001
|
|
NM_000090.4(COL3A1):c.129T>C (p.Asp43=)
|
rs774591764
|
0.00001
|
|
NM_000090.4(COL3A1):c.1307A>G (p.Lys436Arg)
|
rs751471411
|
0.00001
|
|
NM_000090.4(COL3A1):c.1333C>T (p.Pro445Ser)
|
rs1688260053
|
0.00001
|
|
NM_000090.4(COL3A1):c.1338T>A (p.Arg446=)
|
rs1553507953
|
0.00001
|
|
NM_000090.4(COL3A1):c.1346G>A (p.Arg449His)
|
rs888082655
|
0.00001
|
|
NM_000090.4(COL3A1):c.1348-4T>C
|
rs756811190
|
0.00001
|
|
NM_000090.4(COL3A1):c.1378G>A (p.Ala460Thr)
|
rs745315358
|
0.00001
|
|
NM_000090.4(COL3A1):c.13G>A (p.Val5Met)
|
rs1461198652
|
0.00001
|
|
NM_000090.4(COL3A1):c.1408C>T (p.Pro470Ser)
|
rs748530632
|
0.00001
|
|
NM_000090.4(COL3A1):c.1410T>C (p.Pro470=)
|
rs1010477216
|
0.00001
|
|
NM_000090.4(COL3A1):c.1431G>A (p.Gly477=)
|
rs368765585
|
0.00001
|
|
NM_000090.4(COL3A1):c.1437A>G (p.Pro479=)
|
rs1001916364
|
0.00001
|
|
NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro)
|
rs374532173
|
0.00001
|
|
NM_000090.4(COL3A1):c.1455+12A>G
|
rs752647323
|
0.00001
|
|
NM_000090.4(COL3A1):c.1480G>A (p.Ala494Thr)
|
rs200866608
|
0.00001
|
|
NM_000090.4(COL3A1):c.1496T>C (p.Ile499Thr)
|
rs1001748912
|
0.00001
|
|
NM_000090.4(COL3A1):c.14T>A (p.Val5Glu)
|
rs751315184
|
0.00001
|
|
NM_000090.4(COL3A1):c.1509+7A>C
|
rs201740954
|
0.00001
|
|
NM_000090.4(COL3A1):c.1510-17T>C
|
rs768697971
|
0.00001
|
|
NM_000090.4(COL3A1):c.1513C>T (p.Pro505Ser)
|
rs776430998
|
0.00001
|
|
NM_000090.4(COL3A1):c.1524G>A (p.Glu508=)
|
rs761742677
|
0.00001
|
|
NM_000090.4(COL3A1):c.1545A>G (p.Ala515=)
|
rs1250297410
|
0.00001
|
|
NM_000090.4(COL3A1):c.1557A>C (p.Gly519=)
|
rs754318905
|
0.00001
|
|
NM_000090.4(COL3A1):c.1558G>A (p.Ala520Thr)
|
rs1410374684
|
0.00001
|
|
NM_000090.4(COL3A1):c.1581T>C (p.Asp527=)
|
rs890700564
|
0.00001
|
|
NM_000090.4(COL3A1):c.1594G>A (p.Gly532Ser)
|
rs138166497
|
0.00001
|
|
NM_000090.4(COL3A1):c.1609-17T>G
|
rs1468376126
|
0.00001
|
|
NM_000090.4(COL3A1):c.1642G>A (p.Asp548Asn)
|
rs1293397335
|
0.00001
|
|
NM_000090.4(COL3A1):c.1657C>T (p.Pro553Ser)
|
rs752163277
|
0.00001
|
|
NM_000090.4(COL3A1):c.1685G>A (p.Arg562Gln)
|
rs774146040
|
0.00001
|
|
NM_000090.4(COL3A1):c.1716A>C (p.Arg572=)
|
rs751916055
|
0.00001
|
|
NM_000090.4(COL3A1):c.1761+6T>C
|
rs189483688
|
0.00001
|
|
NM_000090.4(COL3A1):c.1762-17G>A
|
rs768134782
|
0.00001
|
|
NM_000090.4(COL3A1):c.1777A>G (p.Asn593Asp)
|
rs1435010100
|
0.00001
|
|
NM_000090.4(COL3A1):c.178G>A (p.Val60Ile)
|
rs762028131
|
0.00001
|
|
NM_000090.4(COL3A1):c.1801G>A (p.Gly601Arg)
|
rs767889802
|
0.00001
|
|
NM_000090.4(COL3A1):c.1813C>G (p.Gln605Glu)
|
rs764299277
|
0.00001
|
|
NM_000090.4(COL3A1):c.1815+4C>T
|
rs757154607
|
0.00001
|
|
NM_000090.4(COL3A1):c.1816-6T>G
|
rs1474453319
|
0.00001
|
|
NM_000090.4(COL3A1):c.1819C>G (p.Pro607Ala)
|
rs376525602
|
0.00001
|
|
NM_000090.4(COL3A1):c.183C>T (p.Leu61=)
|
rs753474870
|
0.00001
|
|
NM_000090.4(COL3A1):c.1857C>G (p.Pro619=)
|
rs769323072
|
0.00001
|
|
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser)
|
rs772638774
|
0.00001
|
|
NM_000090.4(COL3A1):c.1869+6T>G
|
rs730880063
|
0.00001
|
|
NM_000090.4(COL3A1):c.1870-14T>C
|
rs201315795
|
0.00001
|
|
NM_000090.4(COL3A1):c.1872G>A (p.Gly624=)
|
rs372901096
|
0.00001
|
|
NM_000090.4(COL3A1):c.1893C>T (p.Asp631=)
|
rs1171472504
|
0.00001
|
|
NM_000090.4(COL3A1):c.18A>G (p.Gln6=)
|
rs892404442
|
0.00001
|
|
NM_000090.4(COL3A1):c.1904C>T (p.Pro635Leu)
|
rs902780774
|
0.00001
|
|
NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu)
|
rs794728048
|
0.00001
|
|
NM_000090.4(COL3A1):c.1924-4C>T
|
rs755814664
|
0.00001
|
|
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys)
|
rs189846410
|
0.00001
|
|
NM_000090.4(COL3A1):c.1976C>T (p.Pro659Leu)
|
rs756822808
|
0.00001
|
|
NM_000090.4(COL3A1):c.1977+15A>G
|
rs1157414171
|
0.00001
|
|
NM_000090.4(COL3A1):c.1977+19T>C
|
rs1688375431
|
0.00001
|
|
NM_000090.4(COL3A1):c.1978-12C>T
|
rs753526966
|
0.00001
|
|
NM_000090.4(COL3A1):c.1978-13G>A
|
rs763906653
|
0.00001
|
|
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met)
|
rs372269408
|
0.00001
|
|
NM_000090.4(COL3A1):c.2022+12A>G
|
rs745914997
|
0.00001
|
|
NM_000090.4(COL3A1):c.2023-15A>G
|
rs764932588
|
0.00001
|
|
NM_000090.4(COL3A1):c.2023-1G>T
|
rs587779708
|
0.00001
|
|
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly)
|
rs376603102
|
0.00001
|
|
NM_000090.4(COL3A1):c.2043T>C (p.Gly681=)
|
rs768133491
|
0.00001
|
|
NM_000090.4(COL3A1):c.2047C>T (p.Arg683Cys)
|
rs1254414798
|
0.00001
|
|
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His)
|
rs753162027
|
0.00001
|
|
NM_000090.4(COL3A1):c.204C>T (p.Asp68=)
|
rs368299739
|
0.00001
|
|
NM_000090.4(COL3A1):c.205G>A (p.Asp69Asn)
|
rs112714742
|
0.00001
|
|
NM_000090.4(COL3A1):c.2074C>A (p.Pro692Thr)
|
rs1160258883
|
0.00001
|
|
NM_000090.4(COL3A1):c.2121+10C>T
|
rs763630559
|
0.00001
|
|
NM_000090.4(COL3A1):c.219C>T (p.Asp73=)
|
rs886038228
|
0.00001
|
|
NM_000090.4(COL3A1):c.2220G>A (p.Lys740=)
|
rs541557925
|
0.00001
|
|
NM_000090.4(COL3A1):c.2230-10T>C
|
rs1311894180
|
0.00001
|
|
NM_000090.4(COL3A1):c.2264C>A (p.Pro755Gln)
|
rs1553508711
|
0.00001
|
|
NM_000090.4(COL3A1):c.2290A>G (p.Thr764Ala)
|
rs775003113
|
0.00001
|
|
NM_000090.4(COL3A1):c.2310T>G (p.Pro770=)
|
rs1321267556
|
0.00001
|
|
NM_000090.4(COL3A1):c.2317G>T (p.Ala773Ser)
|
rs1170068141
|
0.00001
|
|
NM_000090.4(COL3A1):c.2337+16A>G
|
rs759863835
|
0.00001
|
|
NM_000090.4(COL3A1):c.2351C>T (p.Ala784Val)
|
rs370292679
|
0.00001
|
|
NM_000090.4(COL3A1):c.2461C>A (p.Pro821Thr)
|
rs1296092212
|
0.00001
|
|
NM_000090.4(COL3A1):c.2481A>G (p.Arg827=)
|
rs1355382847
|
0.00001
|
|
NM_000090.4(COL3A1):c.2485G>T (p.Ala829Ser)
|
rs755676319
|
0.00001
|
|
NM_000090.4(COL3A1):c.2506G>A (p.Gly836Arg)
|
rs1363971558
|
0.00001
|
|
NM_000090.4(COL3A1):c.2511C>A (p.Gly837=)
|
rs1157152697
|
0.00001
|
|
NM_000090.4(COL3A1):c.2531C>T (p.Pro844Leu)
|
rs943287668
|
0.00001
|
|
NM_000090.4(COL3A1):c.2539G>A (p.Gly847Ser)
|
rs1688502787
|
0.00001
|
|
NM_000090.4(COL3A1):c.2554-4A>G
|
rs543263157
|
0.00001
|
|
NM_000090.4(COL3A1):c.2565T>C (p.Gly855=)
|
rs774245587
|
0.00001
|
|
NM_000090.4(COL3A1):c.2567C>T (p.Pro856Leu)
|
rs1688514900
|
0.00001
|
|
NM_000090.4(COL3A1):c.2587C>T (p.Arg863Cys)
|
rs568639668
|
0.00001
|
|
NM_000090.4(COL3A1):c.258A>C (p.Ala86=)
|
rs775636888
|
0.00001
|
|
NM_000090.4(COL3A1):c.2607+10G>A
|
rs367789349
|
0.00001
|
|
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)
|
rs376643618
|
0.00001
|
|
NM_000090.4(COL3A1):c.2627G>C (p.Gly876Ala)
|
rs1158155272
|
0.00001
|
|
NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr)
|
rs761469859
|
0.00001
|
|
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu)
|
rs1455100373
|
0.00001
|
|
NM_000090.4(COL3A1):c.267A>G (p.Pro89=)
|
rs998965783
|
0.00001
|
|
NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser)
|
rs794728054
|
0.00001
|
|
NM_000090.4(COL3A1):c.2709G>A (p.Gly903=)
|
rs1057524521
|
0.00001
|
|
NM_000090.4(COL3A1):c.2724G>A (p.Ala908=)
|
rs754015151
|
0.00001
|
|
NM_000090.4(COL3A1):c.275C>T (p.Pro92Leu)
|
rs368889070
|
0.00001
|
|
NM_000090.4(COL3A1):c.2766A>C (p.Pro922=)
|
rs915948354
|
0.00001
|
|
NM_000090.4(COL3A1):c.2766A>G (p.Pro922=)
|
rs915948354
|
0.00001
|
|
NM_000090.4(COL3A1):c.2773G>A (p.Asp925Asn)
|
rs929526823
|
0.00001
|
|
NM_000090.4(COL3A1):c.280G>T (p.Ala94Ser)
|
rs761447734
|
0.00001
|
|
NM_000090.4(COL3A1):c.2848G>A (p.Ala950Thr)
|
rs1170896025
|
0.00001
|
|
NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu)
|
rs780260944
|
0.00001
|
|
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys)
|
rs768671254
|
0.00001
|
|
NM_000090.4(COL3A1):c.2904G>A (p.Arg968=)
|
rs780866547
|
0.00001
|
|
NM_000090.4(COL3A1):c.2931+9A>T
|
rs752325298
|
0.00001
|
|
NM_000090.4(COL3A1):c.2962C>T (p.Leu988Phe)
|
rs978290107
|
0.00001
|
|
NM_000090.4(COL3A1):c.2974C>A (p.Arg992Ser)
|
rs1431359737
|
0.00001
|
|
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala)
|
rs142457159
|
0.00001
|
|
NM_000090.4(COL3A1):c.3040-12T>C
|
rs757034411
|
0.00001
|
|
NM_000090.4(COL3A1):c.3071G>A (p.Arg1024Gln)
|
rs1484867480
|
0.00001
|
|
NM_000090.4(COL3A1):c.3092A>G (p.Lys1031Arg)
|
rs749725146
|
0.00001
|
|
NM_000090.4(COL3A1):c.3098A>T (p.Asp1033Val)
|
rs1060500206
|
0.00001
|
|
NM_000090.4(COL3A1):c.3100C>T (p.Arg1034Cys)
|
rs1178112512
|
0.00001
|
|
NM_000090.4(COL3A1):c.3101G>A (p.Arg1034His)
|
rs780788248
|
0.00001
|
|
NM_000090.4(COL3A1):c.3102T>C (p.Arg1034=)
|
rs1399453028
|
0.00001
|
|
NM_000090.4(COL3A1):c.3114C>T (p.Gly1038=)
|
rs982248094
|
0.00001
|
|
NM_000090.4(COL3A1):c.313C>G (p.Gln105Glu)
|
rs762567565
|
0.00001
|
|
NM_000090.4(COL3A1):c.3163G>A (p.Val1055Ile)
|
rs747197616
|
0.00001
|
|
NM_000090.4(COL3A1):c.316G>A (p.Gly106Ser)
|
rs180938313
|
0.00001
|
|
NM_000090.4(COL3A1):c.3202-5C>A
|
rs1417576506
|
0.00001
|
|
NM_000090.4(COL3A1):c.3208G>T (p.Ala1070Ser)
|
rs376738516
|
0.00001
|
|
NM_000090.4(COL3A1):c.3219T>G (p.Ala1073=)
|
rs767247799
|
0.00001
|
|
NM_000090.4(COL3A1):c.3224C>T (p.Ala1075Val)
|
rs952989325
|
0.00001
|
|
NM_000090.4(COL3A1):c.3262C>G (p.Gln1088Glu)
|
rs1328301317
|
0.00001
|
|
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser)
|
rs1464447467
|
0.00001
|
|
NM_000090.4(COL3A1):c.3298C>T (p.Arg1100Cys)
|
rs755321924
|
0.00001
|
|
NM_000090.4(COL3A1):c.3321A>G (p.Gly1107=)
|
rs1364238191
|
0.00001
|
|
NM_000090.4(COL3A1):c.333+15T>C
|
rs764678861
|
0.00001
|
|
NM_000090.4(COL3A1):c.334-13A>G
|
rs375137220
|
0.00001
|
|
NM_000090.4(COL3A1):c.3344C>G (p.Pro1115Arg)
|
rs1688622334
|
0.00001
|
|
NM_000090.4(COL3A1):c.3345A>G (p.Pro1115=)
|
rs1045040851
|
0.00001
|
|
NM_000090.4(COL3A1):c.3363+9A>G
|
rs1286958692
|
0.00001
|
|
NM_000090.4(COL3A1):c.3364-8C>T
|
rs779073034
|
0.00001
|
|
NM_000090.4(COL3A1):c.3417+6T>C
|
rs1201578152
|
0.00001
|
|
NM_000090.4(COL3A1):c.3418-15A>G
|
rs754815421
|
0.00001
|
|
NM_000090.4(COL3A1):c.3418-5C>A
|
rs377392671
|
0.00001
|
|
NM_000090.4(COL3A1):c.3430C>T (p.Pro1144Ser)
|
rs748793822
|
0.00001
|
|
NM_000090.4(COL3A1):c.3440C>T (p.Pro1147Leu)
|
rs889877870
|
0.00001
|
|
NM_000090.4(COL3A1):c.3492G>A (p.Gly1164=)
|
rs750595642
|
0.00001
|
|
NM_000090.4(COL3A1):c.3526-10C>T
|
rs376171095
|
0.00001
|
|
NM_000090.4(COL3A1):c.3566C>T (p.Pro1189Leu)
|
rs752598062
|
0.00001
|
|
NM_000090.4(COL3A1):c.3583C>T (p.Pro1195Ser)
|
rs137912293
|
0.00001
|
|
NM_000090.4(COL3A1):c.3593G>A (p.Gly1198Asp)
|
rs756858564
|
0.00001
|
|
NM_000090.4(COL3A1):c.3606C>T (p.Ala1202=)
|
rs755573602
|
0.00001
|
|
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala)
|
rs374452484
|
0.00001
|
|
NM_000090.4(COL3A1):c.3637G>T (p.Ala1213Ser)
|
rs1427744978
|
0.00001
|
|
NM_000090.4(COL3A1):c.3643G>A (p.Gly1215Ser)
|
rs767577382
|
0.00001
|
|
NM_000090.4(COL3A1):c.3687C>T (p.Ile1229=)
|
rs1246267310
|
0.00001
|
|
NM_000090.4(COL3A1):c.3690C>G (p.Asn1230Lys)
|
rs1190691997
|
0.00001
|
|
NM_000090.4(COL3A1):c.3693C>A (p.Thr1231=)
|
rs368556405
|
0.00001
|
|
NM_000090.4(COL3A1):c.3712C>T (p.Leu1238Phe)
|
rs1688662674
|
0.00001
|
|
NM_000090.4(COL3A1):c.3745A>G (p.Ile1249Val)
|
rs779018915
|
0.00001
|
|
NM_000090.4(COL3A1):c.3793C>A (p.Leu1265Met)
|
rs200052168
|
0.00001
|
|
NM_000090.4(COL3A1):c.3808C>A (p.Pro1270Thr)
|
rs756724842
|
0.00001
|
|
NM_000090.4(COL3A1):c.3824-11T>G
|
rs766096022
|
0.00001
|
|
NM_000090.4(COL3A1):c.3824-14T>G
|
rs762561768
|
0.00001
|
|
NM_000090.4(COL3A1):c.3845A>G (p.Asn1282Ser)
|
rs1483989815
|
0.00001
|
|
NM_000090.4(COL3A1):c.3847C>G (p.Gln1283Glu)
|
rs587779467
|
0.00001
|
|
NM_000090.4(COL3A1):c.3852A>G (p.Gly1284=)
|
rs1332063006
|
0.00001
|
|
NM_000090.4(COL3A1):c.3859T>C (p.Leu1287=)
|
rs770201950
|
0.00001
|
|
NM_000090.4(COL3A1):c.3928G>A (p.Val1310Ile)
|
rs1688692242
|
0.00001
|
|
NM_000090.4(COL3A1):c.3934C>T (p.Arg1312Trp)
|
rs794728056
|
0.00001
|
|
NM_000090.4(COL3A1):c.3935G>A (p.Arg1312Gln)
|
rs772919524
|
0.00001
|
|
NM_000090.4(COL3A1):c.3963T>C (p.Ala1321=)
|
rs1057523548
|
0.00001
|
|
NM_000090.4(COL3A1):c.3964G>A (p.Glu1322Lys)
|
rs149522780
|
0.00001
|
|
NM_000090.4(COL3A1):c.3975C>T (p.His1325=)
|
rs1167154450
|
0.00001
|
|
NM_000090.4(COL3A1):c.4003G>A (p.Gly1335Ser)
|
rs751807135
|
0.00001
|
|
NM_000090.4(COL3A1):c.4011+8A>C
|
rs781175426
|
0.00001
|
|
NM_000090.4(COL3A1):c.4025A>G (p.Asn1342Ser)
|
rs752777683
|
0.00001
|
|
NM_000090.4(COL3A1):c.405T>C (p.Pro135=)
|
rs777238997
|
0.00001
|
|
NM_000090.4(COL3A1):c.4080C>G (p.Leu1360=)
|
rs771682647
|
0.00001
|
|
NM_000090.4(COL3A1):c.40G>A (p.Ala14Thr)
|
rs547373542
|
0.00001
|
|
NM_000090.4(COL3A1):c.40G>T (p.Ala14Ser)
|
rs547373542
|
0.00001
|
|
NM_000090.4(COL3A1):c.4100A>G (p.Asn1367Ser)
|
rs746580509
|
0.00001
|
|
NM_000090.4(COL3A1):c.4118A>G (p.Lys1373Arg)
|
rs775951025
|
0.00001
|
|
NM_000090.4(COL3A1):c.414T>G (p.Pro138=)
|
rs1454063115
|
0.00001
|
|
NM_000090.4(COL3A1):c.4165G>T (p.Ala1389Ser)
|
rs202022204
|
0.00001
|
|
NM_000090.4(COL3A1):c.4174C>T (p.Leu1392=)
|
rs527694833
|
0.00001
|
|
NM_000090.4(COL3A1):c.41C>G (p.Ala14Gly)
|
rs1231364424
|
0.00001
|
|
NM_000090.4(COL3A1):c.4220A>C (p.Lys1407Thr)
|
rs747651283
|
0.00001
|
|
NM_000090.4(COL3A1):c.4224C>T (p.Phe1408=)
|
rs549672243
|
0.00001
|
|
NM_000090.4(COL3A1):c.4253C>T (p.Thr1418Met)
|
rs1012915558
|
0.00001
|
|
NM_000090.4(COL3A1):c.4254+3A>G
|
rs376799861
|
0.00001
|
|
NM_000090.4(COL3A1):c.4257A>G (p.Lys1419=)
|
rs754723643
|
0.00001
|
|
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly)
|
rs1415901923
|
0.00001
|
|
NM_000090.4(COL3A1):c.4276A>G (p.Lys1426Glu)
|
rs908421014
|
0.00001
|
|
NM_000090.4(COL3A1):c.4284C>A (p.Val1428=)
|
rs746436515
|
0.00001
|
|
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu)
|
rs772428340
|
0.00001
|
|
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys)
|
rs747324731
|
0.00001
|
|
NM_000090.4(COL3A1):c.4340A>G (p.Tyr1447Cys)
|
rs1407784923
|
0.00001
|
|
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn)
|
rs1131691353
|
0.00001
|
|
NM_000090.4(COL3A1):c.4372G>A (p.Val1458Met)
|
rs751427069
|
0.00001
|
|
NM_000090.4(COL3A1):c.448-19A>G
|
rs370705517
|
0.00001
|
|
NM_000090.4(COL3A1):c.448-5C>T
|
rs372900736
|
0.00001
|
|
NM_000090.4(COL3A1):c.464A>G (p.Tyr155Cys)
|
rs1160176510
|
0.00001
|
|
NM_000090.4(COL3A1):c.497T>A (p.Val166Glu)
|
rs1016172772
|
0.00001
|
|
NM_000090.4(COL3A1):c.507C>T (p.Leu169=)
|
rs142437505
|
0.00001
|
|
NM_000090.4(COL3A1):c.508G>A (p.Ala170Thr)
|
rs374476865
|
0.00001
|
|
NM_000090.4(COL3A1):c.50A>T (p.His17Leu)
|
rs1311785540
|
0.00001
|
|
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser)
|
rs771654029
|
0.00001
|
|
NM_000090.4(COL3A1):c.531C>A (p.Gly177=)
|
rs41272797
|
0.00001
|
|
NM_000090.4(COL3A1):c.537A>G (p.Pro179=)
|
rs750191923
|
0.00001
|
|
NM_000090.4(COL3A1):c.567T>C (p.Gly189=)
|
rs946410316
|
0.00001
|
|
NM_000090.4(COL3A1):c.582+16G>A
|
rs775731382
|
0.00001
|
|
NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro)
|
rs751350498
|
0.00001
|
|
NM_000090.4(COL3A1):c.621G>A (p.Gly207=)
|
rs779352711
|
0.00001
|
|
NM_000090.4(COL3A1):c.637-15T>C
|
rs747387258
|
0.00001
|
|
NM_000090.4(COL3A1):c.667C>T (p.Pro223Ser)
|
rs1325737333
|
0.00001
|
|
NM_000090.4(COL3A1):c.669A>T (p.Pro223=)
|
rs1034042392
|
0.00001
|
|
NM_000090.4(COL3A1):c.690+3A>G
|
rs1447080385
|
0.00001
|
|
NM_000090.4(COL3A1):c.690+9T>C
|
rs370451250
|
0.00001
|
|
NM_000090.4(COL3A1):c.691-9T>C
|
rs777795873
|
0.00001
|
|
NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser)
|
rs771858477
|
0.00001
|
|
NM_000090.4(COL3A1):c.713G>A (p.Arg238Gln)
|
rs760324242
|
0.00001
|
|
NM_000090.4(COL3A1):c.724C>T (p.Arg242Ter)
|
rs1333421028
|
0.00001
|
|
NM_000090.4(COL3A1):c.725G>A (p.Arg242Gln)
|
rs372025063
|
0.00001
|
|
NM_000090.4(COL3A1):c.744+15T>C
|
rs755509342
|
0.00001
|
|
NM_000090.4(COL3A1):c.745-7T>C
|
rs776306752
|
0.00001
|
|
NM_000090.4(COL3A1):c.747T>C (p.Gly249=)
|
rs1559054631
|
0.00001
|
|
NM_000090.4(COL3A1):c.752A>G (p.Lys251Arg)
|
rs151148197
|
0.00001
|
|
NM_000090.4(COL3A1):c.759A>G (p.Pro253=)
|
rs376198106
|
0.00001
|
|
NM_000090.4(COL3A1):c.776T>C (p.Phe259Ser)
|
rs1688161034
|
0.00001
|
|
NM_000090.4(COL3A1):c.785T>C (p.Met262Thr)
|
rs772713162
|
0.00001
|
|
NM_000090.4(COL3A1):c.79+10T>C
|
rs747389214
|
0.00001
|
|
NM_000090.4(COL3A1):c.792A>G (p.Gly264=)
|
rs113304344
|
0.00001
|
|
NM_000090.4(COL3A1):c.80-13A>C
|
rs566189676
|
0.00001
|
|
NM_000090.4(COL3A1):c.80-8T>C
|
rs1241543816
|
0.00001
|
|
NM_000090.4(COL3A1):c.803T>C (p.Phe268Ser)
|
rs1318892403
|
0.00001
|
|
NM_000090.4(COL3A1):c.819A>G (p.Gly273=)
|
rs761106446
|
0.00001
|
|
NM_000090.4(COL3A1):c.84T>C (p.Val28=)
|
rs752574994
|
0.00001
|
|
NM_000090.4(COL3A1):c.852+2T>C
|
rs201314784
|
0.00001
|
|
NM_000090.4(COL3A1):c.853-20C>G
|
rs773768258
|
0.00001
|
|
NM_000090.4(COL3A1):c.862G>T (p.Gly288Cys)
|
rs1333066574
|
0.00001
|
|
NM_000090.4(COL3A1):c.884C>T (p.Ala295Val)
|
rs1016767830
|
0.00001
|
|
NM_000090.4(COL3A1):c.891A>C (p.Gly297=)
|
rs751603655
|
0.00001
|
|
NM_000090.4(COL3A1):c.897+10T>C
|
rs375595216
|
0.00001
|
|
NM_000090.4(COL3A1):c.897+16dup
|
rs748754773
|
0.00001
|
|
NM_000090.4(COL3A1):c.897+4A>G
|
rs886039191
|
0.00001
|
|
NM_000090.4(COL3A1):c.898-14A>G
|
rs763316592
|
0.00001
|
|
NM_000090.4(COL3A1):c.902C>G (p.Pro301Arg)
|
rs1273313377
|
0.00001
|
|
NM_000090.4(COL3A1):c.945G>A (p.Gly315=)
|
rs372206736
|
0.00001
|
|
NM_000090.4(COL3A1):c.952-18G>A
|
rs996947690
|
0.00001
|
|
NM_000090.4(COL3A1):c.962G>T (p.Gly321Val)
|
rs587779588
|
0.00001
|
|
NM_000090.4(COL3A1):c.996A>G (p.Pro332=)
|
rs1229792348
|
0.00001
|
|
COL3A1, GLY373ARG
|
|
|
|
NC_000002.11:g.(?_189839196)_(189839314_?)dup
|
|
|
|
NC_000002.11:g.(?_189839206)_(189950508_?)del
|
|
|
|
NC_000002.11:g.(?_189839216)_(189839314_?)del
|
|
|
|
NC_000002.11:g.(?_189839216)_(190044330_?)del
|
|
|
|
NC_000002.11:g.(?_189839216)_(190445186_?)del
|
|
|
|
NC_000002.11:g.(?_189849903)_(189957166_?)dup
|
|
|
|
NC_000002.11:g.(?_189852801)_(189855789_?)dup
|
|
|
|
NC_000002.11:g.(?_189852807)_(189855783_?)dup
|
|
|
|
NC_000002.11:g.(?_189856193)_(189856974_?)del
|
|
|
|
NC_000002.11:g.(?_189860831)_(189861242_?)dup
|
|
|
|
NC_000002.11:g.(?_189860841)_(189861232_?)del
|
|
|
|
NC_000002.12:g.(?_188974470)_(189580480_?)del
|
|
|
|
NC_000002.12:g.(?_188974480)_(189580648_?)del
|
|
|
|
NM_000090.3(COL3A1):c.1509+224_1510-71delinsNM_000090.3:c.799-118_852+62 (p.Lys503_Gly504insGFDGRNGEKGETGAPGLK)
|
|
|
|
NM_000090.3(COL3A1):c.1610delG
|
rs587779702
|
|
|
NM_000090.3(COL3A1):c.1763_1769delinsTAAG (p.Gly588_Pro590delinsValSer)
|
rs587779510
|
|
|
NM_000090.3(COL3A1):c.2608-?_3255+?del (p.Gly870_Pro1085del)
|
|
|
|
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG
|
|
|
|
NM_000090.3(COL3A1):c.[1786C>T;3851G>A]
|
|
|
|
NM_000090.3(COL3A1):c.[=/3426_3452del];[=/3440_3466del]
|
|
|
|
NM_000090.4(COL3A1):c.*113C>T
|
rs886055336
|
|
|
NM_000090.4(COL3A1):c.*317C>A
|
rs886055337
|
|
|
NM_000090.4(COL3A1):c.*325C>A
|
rs886055338
|
|
|
NM_000090.4(COL3A1):c.*354C>T
|
rs41265555
|
|
|
NM_000090.4(COL3A1):c.*370A>G
|
rs886055339
|
|
|
NM_000090.4(COL3A1):c.*371G>T
|
rs886055340
|
|
|
NM_000090.4(COL3A1):c.*413T>A
|
rs1027214857
|
|
|
NM_000090.4(COL3A1):c.*508T>C
|
rs1688745206
|
|
|
NM_000090.4(COL3A1):c.*600G>T
|
rs1688747004
|
|
|
NM_000090.4(COL3A1):c.*625C>T
|
rs886055342
|
|
|
NM_000090.4(COL3A1):c.*692G>A
|
rs886055343
|
|
|
NM_000090.4(COL3A1):c.*906C>G
|
rs1306575962
|
|
|
NM_000090.4(COL3A1):c.*947C>T
|
rs886055345
|
|
|
NM_000090.4(COL3A1):c.-9T>C
|
|
|
|
NM_000090.4(COL3A1):c.1003C>T (p.Pro335Ser)
|
rs757785982
|
|
|
NM_000090.4(COL3A1):c.1009C>T (p.Pro337Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1013C>T (p.Pro338Leu)
|
rs2153502229
|
|
|
NM_000090.4(COL3A1):c.1017A>T (p.Gly339=)
|
|
|
|
NM_000090.4(COL3A1):c.1022C>A (p.Ala341Asp)
|
rs1688217809
|
|
|
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg)
|
rs794728040
|
|
|
NM_000090.4(COL3A1):c.1029C>G (p.Phe343Leu)
|
rs1688218053
|
|
|
NM_000090.4(COL3A1):c.1032T>G (p.Pro344=)
|
rs1688218162
|
|
|
NM_000090.4(COL3A1):c.1033G>A (p.Gly345Arg)
|
rs587779419
|
|
|
NM_000090.4(COL3A1):c.103C>A (p.Leu35Ile)
|
rs368703012
|
|
|
NM_000090.4(COL3A1):c.1043G>C (p.Gly348Ala)
|
rs1688218490
|
|
|
NM_000090.4(COL3A1):c.1050+12T>G
|
|
|
|
NM_000090.4(COL3A1):c.1050+7A>G
|
rs950435405
|
|
|
NM_000090.4(COL3A1):c.1051-14G>C
|
|
|
|
NM_000090.4(COL3A1):c.1051-1G>C
|
rs866316633
|
|
|
NM_000090.4(COL3A1):c.1051-8A>G
|
|
|
|
NM_000090.4(COL3A1):c.1051G>A (p.Gly351Ser)
|
rs2153502271
|
|
|
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val)
|
rs587779498
|
|
|
NM_000090.4(COL3A1):c.1057G>A (p.Val353Ile)
|
rs1688228735
|
|
|
NM_000090.4(COL3A1):c.1058T>C (p.Val353Ala)
|
|
|
|
NM_000090.4(COL3A1):c.1064C>A (p.Pro355His)
|
|
|
|
NM_000090.4(COL3A1):c.1068A>G (p.Ala356=)
|
rs2153502276
|
|
|
NM_000090.4(COL3A1):c.1069_1070insACCCTGCAG (p.Ala356_Gly357insAspProAla)
|
rs587779579
|
|
|
NM_000090.4(COL3A1):c.1070G>A (p.Gly357Glu)
|
rs2153502277
|
|
|
NM_000090.4(COL3A1):c.1072T>C (p.Ser358Pro)
|
|
|
|
NM_000090.4(COL3A1):c.1079G>T (p.Gly360Val)
|
|
|
|
NM_000090.4(COL3A1):c.1086T>C (p.Asn362=)
|
rs1576464711
|
|
|
NM_000090.4(COL3A1):c.1087G>A (p.Gly363Ser)
|
rs587779499
|
|
|
NM_000090.4(COL3A1):c.1089T>C (p.Gly363=)
|
|
|
|
NM_000090.4(COL3A1):c.1092C>T (p.Ala364=)
|
|
|
|
NM_000090.4(COL3A1):c.1093C>T (p.Pro365Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1094C>G (p.Pro365Arg)
|
rs1464219199
|
|
|
NM_000090.4(COL3A1):c.1095T>C (p.Pro365=)
|
|
|
|
NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg)
|
rs587779696
|
|
|
NM_000090.4(COL3A1):c.109C>G (p.Gln37Glu)
|
|
|
|
NM_000090.4(COL3A1):c.1100_1117del (p.Gln367_Gly372del)
|
rs587779525
|
|
|
NM_000090.4(COL3A1):c.1103G>C (p.Arg368Thr)
|
|
|
|
NM_000090.4(COL3A1):c.1103GAG[1] (p.Gly369del)
|
rs587779686
|
|
|
NM_000090.4(COL3A1):c.1105G>C (p.Gly369Arg)
|
rs868138294
|
|
|
NM_000090.4(COL3A1):c.1108G>A (p.Glu370Lys)
|
|
|
|
NM_000090.4(COL3A1):c.1108G>C (p.Glu370Gln)
|
|
|
|
NM_000090.4(COL3A1):c.110A>T (p.Gln37Leu)
|
rs1060500205
|
|
|
NM_000090.4(COL3A1):c.1111C>A (p.Pro371Thr)
|
|
|
|
NM_000090.4(COL3A1):c.1115G>T (p.Gly372Val)
|
rs587779547
|
|
|
NM_000090.4(COL3A1):c.1115_1117del (p.Gly372_Pro373delinsAla)
|
|
|
|
NM_000090.4(COL3A1):c.1116A>G (p.Gly372=)
|
|
|
|
NM_000090.4(COL3A1):c.111G>C (p.Gln37His)
|
rs2153501346
|
|
|
NM_000090.4(COL3A1):c.1124G>A (p.Gly375Glu)
|
rs587779569
|
|
|
NM_000090.4(COL3A1):c.1128C>A (p.His376Gln)
|
|
|
|
NM_000090.4(COL3A1):c.1133G>A (p.Gly378Asp)
|
rs1688231067
|
|
|
NM_000090.4(COL3A1):c.1138C>T (p.Gln380Ter)
|
|
|
|
NM_000090.4(COL3A1):c.1139A>G (p.Gln380Arg)
|
rs1688231206
|
|
|
NM_000090.4(COL3A1):c.1142G>A (p.Gly381Asp)
|
rs587779544
|
|
|
NM_000090.4(COL3A1):c.1149+11T>C
|
|
|
|
NM_000090.4(COL3A1):c.1149+1G>A
|
rs587779443
|
|
|
NM_000090.4(COL3A1):c.1149+1G>T
|
rs587779443
|
|
|
NM_000090.4(COL3A1):c.1149+5G>A
|
rs587779538
|
|
|
NM_000090.4(COL3A1):c.1149+7A>G
|
rs1688231707
|
|
|
NM_000090.4(COL3A1):c.114C>T (p.Ser38=)
|
rs141241764
|
|
|
NM_000090.4(COL3A1):c.1150-10G>T
|
|
|
|
NM_000090.4(COL3A1):c.1150-11del
|
|
|
|
NM_000090.4(COL3A1):c.1150-1G>C
|
rs587779520
|
|
|
NM_000090.4(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC
|
rs587779612
|
|
|
NM_000090.4(COL3A1):c.1150-4T>C
|
|
|
|
NM_000090.4(COL3A1):c.1150-5C>T
|
|
|
|
NM_000090.4(COL3A1):c.1150-8A>G
|
|
|
|
NM_000090.4(COL3A1):c.1150-9TA[3]
|
|
|
|
NM_000090.4(COL3A1):c.1150G>C (p.Gly384Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1151G>A (p.Gly384Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1152C>T (p.Gly384=)
|
rs1688243975
|
|
|
NM_000090.4(COL3A1):c.1154C>T (p.Pro385Leu)
|
|
|
|
NM_000090.4(COL3A1):c.1158T>C (p.Pro386=)
|
|
|
|
NM_000090.4(COL3A1):c.1161G>A (p.Gly387=)
|
rs2153502344
|
|
|
NM_000090.4(COL3A1):c.1164T>C (p.Ile388=)
|
rs2153502345
|
|
|
NM_000090.4(COL3A1):c.1173del (p.Pro392fs)
|
rs1553507863
|
|
|
NM_000090.4(COL3A1):c.1179T>C (p.Gly393=)
|
|
|
|
NM_000090.4(COL3A1):c.117T>G (p.Tyr39Ter)
|
|
|
|
NM_000090.4(COL3A1):c.1187G>A (p.Gly396Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1189G>T (p.Glu397Ter)
|
rs187907868
|
|
|
NM_000090.4(COL3A1):c.1189_1194+23del
|
rs587779430
|
|
|
NM_000090.4(COL3A1):c.1194+15C>G
|
|
|
|
NM_000090.4(COL3A1):c.1194+16T>G
|
|
|
|
NM_000090.4(COL3A1):c.1194+1G>A
|
rs587779459
|
|
|
NM_000090.4(COL3A1):c.1194+1G>C
|
rs587779459
|
|
|
NM_000090.4(COL3A1):c.1195-13G>A
|
|
|
|
NM_000090.4(COL3A1):c.1195-20T>G
|
|
|
|
NM_000090.4(COL3A1):c.1195-5C>T
|
|
|
|
NM_000090.4(COL3A1):c.1196G>C (p.Gly399Ala)
|
rs1060500194
|
|
|
NM_000090.4(COL3A1):c.1197T>A (p.Gly399=)
|
|
|
|
NM_000090.4(COL3A1):c.1198C>T (p.Pro400Ser)
|
rs1229093142
|
|
|
NM_000090.4(COL3A1):c.119C>G (p.Ala40Gly)
|
rs201380807
|
|
|
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)
|
rs201380807
|
|
|
NM_000090.4(COL3A1):c.1201G>C (p.Ala401Pro)
|
rs373858715
|
|
|
NM_000090.4(COL3A1):c.1213G>A (p.Gly405Arg)
|
|
|
|
NM_000090.4(COL3A1):c.121G>A (p.Asp41Asn)
|
rs794728035
|
|
|
NM_000090.4(COL3A1):c.1223G>T (p.Gly408Val)
|
rs794728043
|
|
|
NM_000090.4(COL3A1):c.1224A>C (p.Gly408=)
|
rs2153502371
|
|
|
NM_000090.4(COL3A1):c.1225C>G (p.Leu409Val)
|
rs1026603456
|
|
|
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg)
|
rs587779534
|
|
|
NM_000090.4(COL3A1):c.1234G>A (p.Ala412Thr)
|
|
|
|
NM_000090.4(COL3A1):c.1235C>T (p.Ala412Val)
|
rs1057519250
|
|
|
NM_000090.4(COL3A1):c.1237C>T (p.Arg413Trp)
|
|
|
|
NM_000090.4(COL3A1):c.1239G>A (p.Arg413=)
|
rs769162177
|
|
|
NM_000090.4(COL3A1):c.123T>C (p.Asp41=)
|
rs770961095
|
|
|
NM_000090.4(COL3A1):c.1240G>A (p.Gly414Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1240G>T (p.Gly414Cys)
|
rs587779485
|
|
|
NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp)
|
rs794728044
|
|
|
NM_000090.4(COL3A1):c.1241G>T (p.Gly414Val)
|
rs794728044
|
|
|
NM_000090.4(COL3A1):c.1244C>A (p.Pro415His)
|
rs1408351089
|
|
|
NM_000090.4(COL3A1):c.1249G>A (p.Gly417Arg)
|
rs587779637
|
|
|
NM_000090.4(COL3A1):c.1249G>C (p.Gly417Arg)
|
rs587779637
|
|
|
NM_000090.4(COL3A1):c.1254A>G (p.Pro418=)
|
rs2153502381
|
|
|
NM_000090.4(COL3A1):c.1257C>G (p.Ala419=)
|
|
|
|
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)
|
rs587779692
|
|
|
NM_000090.4(COL3A1):c.1264A>G (p.Asn422Asp)
|
rs1688252085
|
|
|
NM_000090.4(COL3A1):c.1267G>A (p.Gly423Ser)
|
rs587779631
|
|
|
NM_000090.4(COL3A1):c.1268G>A (p.Gly423Asp)
|
rs587779586
|
|
|
NM_000090.4(COL3A1):c.1270G>T (p.Ala424Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1277G>A (p.Gly426Glu)
|
rs2153502383
|
|
|
NM_000090.4(COL3A1):c.1281G>A (p.Leu427=)
|
rs750476636
|
|
|
NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter)
|
rs1576465155
|
|
|
NM_000090.4(COL3A1):c.1285G>A (p.Gly429Ser)
|
rs1559056179
|
|
|
NM_000090.4(COL3A1):c.1287T>C (p.Gly429=)
|
|
|
|
NM_000090.4(COL3A1):c.1293+13G>C
|
|
|
|
NM_000090.4(COL3A1):c.1293+19T>A
|
|
|
|
NM_000090.4(COL3A1):c.1294-12G>A
|
|
|
|
NM_000090.4(COL3A1):c.1294-12G>T
|
|
|
|
NM_000090.4(COL3A1):c.1294-13del
|
|
|
|
NM_000090.4(COL3A1):c.1294-1G>C
|
rs1060500204
|
|
|
NM_000090.4(COL3A1):c.1294-3T>G
|
rs587779496
|
|
|
NM_000090.4(COL3A1):c.1294-8T>A
|
|
|
|
NM_000090.4(COL3A1):c.1294-8_1294-2dup
|
rs1688258466
|
|
|
NM_000090.4(COL3A1):c.1294-9A>G
|
|
|
|
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp)
|
rs1688258933
|
|
|
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys)
|
rs150670470
|
|
|
NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser)
|
rs886038952
|
|
|
NM_000090.4(COL3A1):c.1304G>A (p.Gly435Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1311T>C (p.Asn437=)
|
|
|
|
NM_000090.4(COL3A1):c.1313G>A (p.Gly438Asp)
|
rs2153502405
|
|
|
NM_000090.4(COL3A1):c.1316C>T (p.Ala439Val)
|
|
|
|
NM_000090.4(COL3A1):c.1321G>A (p.Gly441Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1322G>A (p.Gly441Glu)
|
rs2153502406
|
|
|
NM_000090.4(COL3A1):c.1324G>C (p.Glu442Gln)
|
|
|
|
NM_000090.4(COL3A1):c.1329C>A (p.Pro443=)
|
rs527291598
|
|
|
NM_000090.4(COL3A1):c.1329C>T (p.Pro443=)
|
rs527291598
|
|
|
NM_000090.4(COL3A1):c.1330G>A (p.Gly444Arg)
|
rs587779489
|
|
|
NM_000090.4(COL3A1):c.1330G>C (p.Gly444Arg)
|
rs587779489
|
|
|
NM_000090.4(COL3A1):c.1334C>T (p.Pro445Leu)
|
rs1243746897
|
|
|
NM_000090.4(COL3A1):c.1335A>G (p.Pro445=)
|
rs1193108024
|
|
|
NM_000090.4(COL3A1):c.1336C>T (p.Arg446Cys)
|
rs1238066761
|
|
|
NM_000090.4(COL3A1):c.1337G>A (p.Arg446His)
|
rs149852181
|
|
|
NM_000090.4(COL3A1):c.1345C>T (p.Arg449Cys)
|
|
|
|
NM_000090.4(COL3A1):c.1347+10A>T
|
|
|
|
NM_000090.4(COL3A1):c.1347+11C>G
|
rs2153502413
|
|
|
NM_000090.4(COL3A1):c.1347+1G>A
|
rs397509370
|
|
|
NM_000090.4(COL3A1):c.1347+1G>T
|
rs397509370
|
|
|
NM_000090.4(COL3A1):c.1347+3A>C
|
rs587779453
|
|
|
NM_000090.4(COL3A1):c.1347+5G>C
|
rs587779721
|
|
|
NM_000090.4(COL3A1):c.1347C>G (p.Arg449=)
|
|
|
|
NM_000090.4(COL3A1):c.1348-10T>G
|
rs2153502430
|
|
|
NM_000090.4(COL3A1):c.1348-11T>C
|
rs1334349221
|
|
|
NM_000090.4(COL3A1):c.1348-15T>A
|
|
|
|
NM_000090.4(COL3A1):c.1348-16del
|
|
|
|
NM_000090.4(COL3A1):c.1348-2A>G
|
|
|
|
NM_000090.4(COL3A1):c.1348-4del
|
rs758567906
|
|
|
NM_000090.4(COL3A1):c.1348-4dup
|
rs758567906
|
|
|
NM_000090.4(COL3A1):c.1348-5T>C
|
rs2153502431
|
|
|
NM_000090.4(COL3A1):c.1348-5_1348-4del
|
rs758567906
|
|
|
NM_000090.4(COL3A1):c.1348-5_1348-4dup
|
|
|
|
NM_000090.4(COL3A1):c.1348-8T>A
|
|
|
|
NM_000090.4(COL3A1):c.134G>A (p.Trp45Ter)
|
rs1559052609
|
|
|
NM_000090.4(COL3A1):c.1351G>A (p.Glu451Lys)
|
rs1559056438
|
|
|
NM_000090.4(COL3A1):c.1354G>T (p.Ala452Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1357G>T (p.Gly453Cys)
|
rs2153502433
|
|
|
NM_000090.4(COL3A1):c.1358G>A (p.Gly453Asp)
|
rs587779621
|
|
|
NM_000090.4(COL3A1):c.1359T>C (p.Gly453=)
|
rs1232746183
|
|
|
NM_000090.4(COL3A1):c.1366G>A (p.Gly456Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1383A>G (p.Lys461=)
|
rs2153502436
|
|
|
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser)
|
rs587779633
|
|
|
NM_000090.4(COL3A1):c.1386C>T (p.Gly462=)
|
|
|
|
NM_000090.4(COL3A1):c.1387G>A (p.Glu463Lys)
|
rs2153502439
|
|
|
NM_000090.4(COL3A1):c.1389A>C (p.Glu463Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1405T>A (p.Ser469Thr)
|
|
|
|
NM_000090.4(COL3A1):c.1410del (p.Gly471fs)
|
rs587779665
|
|
|
NM_000090.4(COL3A1):c.1412G>A (p.Gly471Glu)
|
|
|
|
NM_000090.4(COL3A1):c.1416A>G (p.Glu472=)
|
|
|
|
NM_000090.4(COL3A1):c.1421G>A (p.Gly474Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1425A>T (p.Ala475=)
|
|
|
|
NM_000090.4(COL3A1):c.1429G>T (p.Gly477Trp)
|
rs2153502447
|
|
|
NM_000090.4(COL3A1):c.1430G>A (p.Gly477Glu)
|
rs2153502448
|
|
|
NM_000090.4(COL3A1):c.1435C>G (p.Pro479Ala)
|
|
|
|
NM_000090.4(COL3A1):c.1435C>T (p.Pro479Ser)
|
rs1425504057
|
|
|
NM_000090.4(COL3A1):c.1438G>A (p.Gly480Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1442del (p.Ala481fs)
|
rs1688268302
|
|
|
NM_000090.4(COL3A1):c.1443T>C (p.Ala481=)
|
|
|
|
NM_000090.4(COL3A1):c.1445C>A (p.Ala482Glu)
|
|
|
|
NM_000090.4(COL3A1):c.144A>T (p.Glu48Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1454G>A (p.Arg485Lys)
|
|
|
|
NM_000090.4(COL3A1):c.1455+12A>C
|
|
|
|
NM_000090.4(COL3A1):c.1455+12A>T
|
|
|
|
NM_000090.4(COL3A1):c.1455+18C>A
|
|
|
|
NM_000090.4(COL3A1):c.1455+4C>T
|
rs1422454033
|
|
|
NM_000090.4(COL3A1):c.1455+5G>A
|
rs774425143
|
|
|
NM_000090.4(COL3A1):c.1456-10T>G
|
rs587779701
|
|
|
NM_000090.4(COL3A1):c.1456-13_1499del
|
rs1553508025
|
|
|
NM_000090.4(COL3A1):c.1456-15T>G
|
rs1688273707
|
|
|
NM_000090.4(COL3A1):c.1456-16C>G
|
rs748670622
|
|
|
NM_000090.4(COL3A1):c.1456-82_1977+177del
|
|
|
|
NM_000090.4(COL3A1):c.1457G>A (p.Gly486Asp)
|
rs1688274077
|
|
|
NM_000090.4(COL3A1):c.145C>G (p.Pro49Ala)
|
rs1234344050
|
|
|
NM_000090.4(COL3A1):c.1461C>T (p.Ala487=)
|
rs747522483
|
|
|
NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu)
|
rs587779476
|
|
|
NM_000090.4(COL3A1):c.1470C>T (p.Phe490=)
|
|
|
|
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter)
|
rs1057518075
|
|
|
NM_000090.4(COL3A1):c.1475G>A (p.Gly492Glu)
|
rs587779500
|
|
|
NM_000090.4(COL3A1):c.1475G>T (p.Gly492Val)
|
rs587779500
|
|
|
NM_000090.4(COL3A1):c.1484G>A (p.Gly495Glu)
|
rs1057524653
|
|
|
NM_000090.4(COL3A1):c.1486C>T (p.Pro496Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1489A>G (p.Asn497Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1491T>C (p.Asn497=)
|
|
|
|
NM_000090.4(COL3A1):c.149G>C (p.Cys50Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1500A>G (p.Pro500=)
|
|
|
|
NM_000090.4(COL3A1):c.1501G>A (p.Gly501Arg)
|
rs587779523
|
|
|
NM_000090.4(COL3A1):c.1502G>A (p.Gly501Glu)
|
rs1559056621
|
|
|
NM_000090.4(COL3A1):c.1505A>G (p.Glu502Gly)
|
|
|
|
NM_000090.4(COL3A1):c.1509+18C>A
|
|
|
|
NM_000090.4(COL3A1):c.1509+5A>G
|
rs572863064
|
|
|
NM_000090.4(COL3A1):c.1509+7_1509+21del
|
rs781662866
|
|
|
NM_000090.4(COL3A1):c.150C>A (p.Cys50Ter)
|
|
|
|
NM_000090.4(COL3A1):c.1510-10C>T
|
|
|
|
NM_000090.4(COL3A1):c.1510-12T>C
|
|
|
|
NM_000090.4(COL3A1):c.1510-14C>A
|
|
|
|
NM_000090.4(COL3A1):c.1510-4T>C
|
rs529479786
|
|
|
NM_000090.4(COL3A1):c.1511G>T (p.Gly504Val)
|
rs587779632
|
|
|
NM_000090.4(COL3A1):c.1517C>T (p.Ala506Val)
|
|
|
|
NM_000090.4(COL3A1):c.1531G>A (p.Ala511Thr)
|
rs926106259
|
|
|
NM_000090.4(COL3A1):c.1531G>C (p.Ala511Pro)
|
|
|
|
NM_000090.4(COL3A1):c.1536A>C (p.Pro512=)
|
rs975159988
|
|
|
NM_000090.4(COL3A1):c.153A>G (p.Gln51=)
|
|
|
|
NM_000090.4(COL3A1):c.1541C>A (p.Pro514His)
|
|
|
|
NM_000090.4(COL3A1):c.1548G>A (p.Gly516=)
|
rs765885725
|
|
|
NM_000090.4(COL3A1):c.1548dup (p.Pro517fs)
|
rs2153502552
|
|
|
NM_000090.4(COL3A1):c.1550C>A (p.Pro517His)
|
rs142085247
|
|
|
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg)
|
rs142085247
|
|
|
NM_000090.4(COL3A1):c.1556G>A (p.Gly519Glu)
|
rs587779693
|
|
|
NM_000090.4(COL3A1):c.156A>G (p.Ile52Met)
|
|
|
|
NM_000090.4(COL3A1):c.1577G>A (p.Arg526Lys)
|
|
|
|
NM_000090.4(COL3A1):c.1587C>T (p.Val529=)
|
rs1688293092
|
|
|
NM_000090.4(COL3A1):c.1590T>C (p.Pro530=)
|
rs1688293277
|
|
|
NM_000090.4(COL3A1):c.1592G>C (p.Gly531Ala)
|
|
|
|
NM_000090.4(COL3A1):c.1602A>C (p.Gly534=)
|
|
|
|
NM_000090.4(COL3A1):c.1608+12C>T
|
|
|
|
NM_000090.4(COL3A1):c.1608+13A>G
|
|
|
|
NM_000090.4(COL3A1):c.1608+20T>G
|
|
|
|
NM_000090.4(COL3A1):c.1608+4C>T
|
|
|
|
NM_000090.4(COL3A1):c.1608+6G>C
|
rs1688293957
|
|
|
NM_000090.4(COL3A1):c.1609-10T>C
|
rs762824449
|
|
|
NM_000090.4(COL3A1):c.1609-14C>G
|
rs1243909889
|
|
|
NM_000090.4(COL3A1):c.1609-2A>C
|
rs2153502611
|
|
|
NM_000090.4(COL3A1):c.1617C>A (p.Pro539=)
|
rs141091206
|
|
|
NM_000090.4(COL3A1):c.1617C>G (p.Pro539=)
|
rs141091206
|
|
|
NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg)
|
rs587779584
|
|
|
NM_000090.4(COL3A1):c.1624C>A (p.Pro542Thr)
|
|
|
|
NM_000090.4(COL3A1):c.1636G>A (p.Gly546Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1643A>T (p.Asp548Val)
|
|
|
|
NM_000090.4(COL3A1):c.1646G>A (p.Gly549Glu)
|
rs587779679
|
|
|
NM_000090.4(COL3A1):c.1651C>A (p.Pro551Thr)
|
|
|
|
NM_000090.4(COL3A1):c.1652C>G (p.Pro551Arg)
|
rs868705044
|
|
|
NM_000090.4(COL3A1):c.1652del (p.Pro551fs)
|
rs1060500199
|
|
|
NM_000090.4(COL3A1):c.1654G>A (p.Gly552Arg)
|
rs1688305296
|
|
|
NM_000090.4(COL3A1):c.1655G>A (p.Gly552Glu)
|
rs121912928
|
|
|
NM_000090.4(COL3A1):c.1656G>T (p.Gly552=)
|
|
|
|
NM_000090.4(COL3A1):c.1658C>T (p.Pro553Leu)
|
rs1330285574
|
|
|
NM_000090.4(COL3A1):c.1661C>T (p.Pro554Leu)
|
rs1688305869
|
|
|
NM_000090.4(COL3A1):c.1662+14T>A
|
rs910613076
|
|
|
NM_000090.4(COL3A1):c.1662+16A>C
|
|
|
|
NM_000090.4(COL3A1):c.1662+1G>A
|
rs587779535
|
|
|
NM_000090.4(COL3A1):c.1662+1G>C
|
rs587779535
|
|
|
NM_000090.4(COL3A1):c.1662+1G>T
|
rs587779535
|
|
|
NM_000090.4(COL3A1):c.1662+20C>A
|
|
|
|
NM_000090.4(COL3A1):c.1662+2dup
|
rs587779537
|
|
|
NM_000090.4(COL3A1):c.1662+4T>C
|
rs1319321003
|
|
|
NM_000090.4(COL3A1):c.1662+4T>G
|
rs1319321003
|
|
|
NM_000090.4(COL3A1):c.1662C>G (p.Pro554=)
|
rs373963384
|
|
|
NM_000090.4(COL3A1):c.1663-13T>G
|
|
|
|
NM_000090.4(COL3A1):c.1663-15A>C
|
rs2153502677
|
|
|
NM_000090.4(COL3A1):c.1663-19T>A
|
|
|
|
NM_000090.4(COL3A1):c.1663-19T>C
|
|
|
|
NM_000090.4(COL3A1):c.1663-1G>A
|
rs749145939
|
|
|
NM_000090.4(COL3A1):c.1663-1G>T
|
|
|
|
NM_000090.4(COL3A1):c.1663-4T>C
|
|
|
|
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACA
|
rs200204993
|
|
|
NM_000090.4(COL3A1):c.1663-9del
|
rs770372880
|
|
|
NM_000090.4(COL3A1):c.1663G>A (p.Gly555Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1667G>A (p.Ser556Asn)
|
rs1688319466
|
|
|
NM_000090.4(COL3A1):c.1667G>T (p.Ser556Ile)
|
|
|
|
NM_000090.4(COL3A1):c.1668T>G (p.Ser556Arg)
|
rs1688319570
|
|
|
NM_000090.4(COL3A1):c.166G>A (p.Asp56Asn)
|
|
|
|
NM_000090.4(COL3A1):c.1675G>A (p.Glu559Lys)
|
|
|
|
NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter)
|
rs375737772
|
|
|
NM_000090.4(COL3A1):c.1691G>A (p.Gly564Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1694_1697del (p.Pro565fs)
|
|
|
|
NM_000090.4(COL3A1):c.1697C>G (p.Pro566Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1701G>T (p.Gly567=)
|
|
|
|
NM_000090.4(COL3A1):c.1701_2392-342del
|
|
|
|
NM_000090.4(COL3A1):c.1706C>G (p.Ser569Cys)
|
|
|
|
NM_000090.4(COL3A1):c.1708G>A (p.Gly570Ser)
|
rs1553508238
|
|
|
NM_000090.4(COL3A1):c.1709G>A (p.Gly570Asp)
|
rs2153502685
|
|
|
NM_000090.4(COL3A1):c.1712C>T (p.Pro571Leu)
|
|
|
|
NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)
|
|
|
|
NM_000090.4(COL3A1):c.1718G>A (p.Gly573Asp)
|
|
|
|
NM_000090.4(COL3A1):c.1725T>G (p.Pro575=)
|
|
|
|
NM_000090.4(COL3A1):c.1728T>G (p.Gly576=)
|
|
|
|
NM_000090.4(COL3A1):c.1733T>A (p.Met578Lys)
|
|
|
|
NM_000090.4(COL3A1):c.1740C>T (p.Phe580=)
|
rs2153502690
|
|
|
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)
|
rs121912923
|
|
|
NM_000090.4(COL3A1):c.1744G>C (p.Gly582Arg)
|
rs121912923
|
|
|
NM_000090.4(COL3A1):c.1744G>T (p.Gly582Cys)
|
rs121912923
|
|
|
NM_000090.4(COL3A1):c.1745G>A (p.Gly582Asp)
|
rs1688322272
|
|
|
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val)
|
rs2153502692
|
|
|
NM_000090.4(COL3A1):c.1761+13A>G
|
|
|
|
NM_000090.4(COL3A1):c.1761+15_1870-100del
|
|
|
|
NM_000090.4(COL3A1):c.1761+16A>G
|
rs368540657
|
|
|
NM_000090.4(COL3A1):c.1761+1G>A
|
rs1688322811
|
|
|
NM_000090.4(COL3A1):c.1761+2T>C
|
rs587779530
|
|
|
NM_000090.4(COL3A1):c.1761+2T>G
|
rs587779530
|
|
|
NM_000090.4(COL3A1):c.1761+4_1761+5del
|
rs1559057346
|
|
|
NM_000090.4(COL3A1):c.1761+5G>A
|
rs397509372
|
|
|
NM_000090.4(COL3A1):c.1761+5G>T
|
rs397509372
|
|
|
NM_000090.4(COL3A1):c.1761+7T>A
|
|
|
|
NM_000090.4(COL3A1):c.1761+8C>T
|
|
|
|
NM_000090.4(COL3A1):c.1761+9C>G
|
|
|
|
NM_000090.4(COL3A1):c.1761T>A (p.Asp587Glu)
|
|
|
|
NM_000090.4(COL3A1):c.1762-11T>G
|
rs761637298
|
|
|
NM_000090.4(COL3A1):c.1762-12C>T
|
|
|
|
NM_000090.4(COL3A1):c.1762-12CTT[2]
|
|
|
|
NM_000090.4(COL3A1):c.1762-12CTT[5]
|
|
|
|
NM_000090.4(COL3A1):c.1762-13A>G
|
rs776161087
|
|
|
NM_000090.4(COL3A1):c.1762-14C>T
|
|
|
|
NM_000090.4(COL3A1):c.1762-16A>G
|
|
|
|
NM_000090.4(COL3A1):c.1762-18C>T
|
|
|
|
NM_000090.4(COL3A1):c.1762-1G>T
|
|
|
|
NM_000090.4(COL3A1):c.1762-2A>G
|
rs587779722
|
|
|
NM_000090.4(COL3A1):c.1762-3T>C
|
|
|
|
NM_000090.4(COL3A1):c.1762-6C>T
|
rs2153502785
|
|
|
NM_000090.4(COL3A1):c.1762G>A (p.Gly588Ser)
|
rs1553508338
|
|
|
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp)
|
rs587779691
|
|
|
NM_000090.4(COL3A1):c.1763G>T (p.Gly588Val)
|
rs587779691
|
|
|
NM_000090.4(COL3A1):c.1765G>A (p.Ala589Thr)
|
rs1327158014
|
|
|
NM_000090.4(COL3A1):c.1765G>T (p.Ala589Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1771G>T (p.Gly591Cys)
|
|
|
|
NM_000090.4(COL3A1):c.1773dup (p.Lys592Ter)
|
rs587779608
|
|
|
NM_000090.4(COL3A1):c.1778A>T (p.Asn593Ile)
|
|
|
|
NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter)
|
rs587779527
|
|
|
NM_000090.4(COL3A1):c.1789G>A (p.Gly597Ser)
|
|
|
|
NM_000090.4(COL3A1):c.178G>C (p.Val60Leu)
|
|
|
|
NM_000090.4(COL3A1):c.1794C>T (p.Gly598=)
|
|
|
|
NM_000090.4(COL3A1):c.1795C>A (p.Pro599Thr)
|
|
|
|
NM_000090.4(COL3A1):c.1804C>G (p.Pro602Ala)
|
rs35795890
|
|
|
NM_000090.4(COL3A1):c.1806T>A (p.Pro602=)
|
rs2153502789
|
|
|
NM_000090.4(COL3A1):c.1808G>A (p.Gly603Asp)
|
rs587779477
|
|
|
NM_000090.4(COL3A1):c.1808G>T (p.Gly603Val)
|
rs587779477
|
|
|
NM_000090.4(COL3A1):c.1808del (p.Gly603fs)
|
rs587779594
|
|
|
NM_000090.4(COL3A1):c.1815+6T>C
|
rs1688347657
|
|
|
NM_000090.4(COL3A1):c.1816-14G>A
|
rs7579815
|
|
|
NM_000090.4(COL3A1):c.1816-15T>G
|
|
|
|
NM_000090.4(COL3A1):c.1816-17A>T
|
|
|
|
NM_000090.4(COL3A1):c.1816-2A>G
|
|
|
|
NM_000090.4(COL3A1):c.1816G>C (p.Gly606Arg)
|
rs587779613
|
|
|
NM_000090.4(COL3A1):c.1816G>T (p.Gly606Cys)
|
|
|
|
NM_000090.4(COL3A1):c.181del (p.Leu61fs)
|
rs2153501353
|
|
|
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu)
|
rs1039226542
|
|
|
NM_000090.4(COL3A1):c.1826G>A (p.Gly609Glu)
|
|
|
|
NM_000090.4(COL3A1):c.1831_1832del (p.Asn611fs)
|
rs587779462
|
|
|
NM_000090.4(COL3A1):c.1834G>A (p.Gly612Ser)
|
rs2153502803
|
|
|
NM_000090.4(COL3A1):c.1836T>C (p.Gly612=)
|
rs1576467117
|
|
|
NM_000090.4(COL3A1):c.1840A>G (p.Thr614Ala)
|
|
|
|
NM_000090.4(COL3A1):c.1844G>A (p.Gly615Glu)
|
rs587779634
|
|
|
NM_000090.4(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla)
|
rs1576467133
|
|
|
NM_000090.4(COL3A1):c.1853G>A (p.Gly618Glu)
|
|
|
|
NM_000090.4(COL3A1):c.1857C>T (p.Pro619=)
|
|
|
|
NM_000090.4(COL3A1):c.1859del (p.Pro620fs)
|
rs1576467144
|
|
|
NM_000090.4(COL3A1):c.1860A>G (p.Pro620=)
|
rs141128796
|
|
|
NM_000090.4(COL3A1):c.1861G>C (p.Gly621Arg)
|
rs587779616
|
|
|
NM_000090.4(COL3A1):c.1861G>T (p.Gly621Trp)
|
rs587779616
|
|
|
NM_000090.4(COL3A1):c.1862G>A (p.Gly621Glu)
|
rs587779539
|
|
|
NM_000090.4(COL3A1):c.1862G>T (p.Gly621Val)
|
rs587779539
|
|
|
NM_000090.4(COL3A1):c.1863G>A (p.Gly621=)
|
|
|
|
NM_000090.4(COL3A1):c.1865C>T (p.Pro622Leu)
|
|
|
|
NM_000090.4(COL3A1):c.1867A>G (p.Thr623Ala)
|
|
|
|
NM_000090.4(COL3A1):c.1869+13A>T
|
|
|
|
NM_000090.4(COL3A1):c.1869+1G>C
|
rs587779600
|
|
|
NM_000090.4(COL3A1):c.1869+3A>C
|
rs1576467168
|
|
|
NM_000090.4(COL3A1):c.1869+4A>G
|
|
|
|
NM_000090.4(COL3A1):c.1869+5G>A
|
rs397509376
|
|
|
NM_000090.4(COL3A1):c.1869+5G>T
|
rs397509376
|
|
|
NM_000090.4(COL3A1):c.1869+9A>C
|
|
|
|
NM_000090.4(COL3A1):c.1870-12A>G
|
rs1231508385
|
|
|
NM_000090.4(COL3A1):c.1870-13_1870-11del
|
rs1312775368
|
|
|
NM_000090.4(COL3A1):c.1870-18A>G
|
rs2153502834
|
|
|
NM_000090.4(COL3A1):c.1870-20G>A
|
|
|
|
NM_000090.4(COL3A1):c.1870-2A>G
|
rs587779575
|
|
|
NM_000090.4(COL3A1):c.1870-2A>T
|
rs587779575
|
|
|
NM_000090.4(COL3A1):c.1870-9C>T
|
rs777339506
|
|
|
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu)
|
rs1553508463
|
|
|
NM_000090.4(COL3A1):c.1872G>C (p.Gly624=)
|
|
|
|
NM_000090.4(COL3A1):c.1873C>G (p.Pro625Ala)
|
|
|
|
NM_000090.4(COL3A1):c.1878T>A (p.Gly626=)
|
|
|
|
NM_000090.4(COL3A1):c.187G>A (p.Asp63Asn)
|
rs1688031625
|
|
|
NM_000090.4(COL3A1):c.1886A>G (p.Lys629Arg)
|
rs1553508467
|
|
|
NM_000090.4(COL3A1):c.1891G>A (p.Asp631Asn)
|
rs1688361531
|
|
|
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys)
|
rs769039976
|
|
|
NM_000090.4(COL3A1):c.1897G>A (p.Gly633Arg)
|
rs1553508473
|
|
|
NM_000090.4(COL3A1):c.1898G>A (p.Gly633Glu)
|
rs587779611
|
|
|
NM_000090.4(COL3A1):c.18A>C (p.Gln6His)
|
|
|
|
NM_000090.4(COL3A1):c.1900C>A (p.Pro634Thr)
|
|
|
|
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser)
|
rs762129273
|
|
|
NM_000090.4(COL3A1):c.1905T>C (p.Pro635=)
|
|
|
|
NM_000090.4(COL3A1):c.1905del (p.Gly636fs)
|
|
|
|
NM_000090.4(COL3A1):c.1906G>C (p.Gly636Arg)
|
rs587779522
|
|
|
NM_000090.4(COL3A1):c.1910C>T (p.Pro637Leu)
|
|
|
|
NM_000090.4(COL3A1):c.1912_1913del (p.Gln638fs)
|
rs1576467391
|
|
|
NM_000090.4(COL3A1):c.1915G>A (p.Gly639Arg)
|
rs587779435
|
|
|
NM_000090.4(COL3A1):c.1915G>C (p.Gly639Arg)
|
rs587779435
|
|
|
NM_000090.4(COL3A1):c.1916G>A (p.Gly639Glu)
|
rs587779421
|
|
|
NM_000090.4(COL3A1):c.1923+1G>A
|
rs587779573
|
|
|
NM_000090.4(COL3A1):c.1923+1G>C
|
rs587779573
|
|
|
NM_000090.4(COL3A1):c.1923+2_1923+5del
|
rs786200946
|
|
|
NM_000090.4(COL3A1):c.1923+9T>C
|
|
|
|
NM_000090.4(COL3A1):c.1924-13_1924-2del
|
|
|
|
NM_000090.4(COL3A1):c.1924-14A>T
|
|
|
|
NM_000090.4(COL3A1):c.1924-8C>A
|
rs1553508534
|
|
|
NM_000090.4(COL3A1):c.1925G>T (p.Gly642Val)
|
rs587779661
|
|
|
NM_000090.4(COL3A1):c.1938A>G (p.Thr646=)
|
|
|
|
NM_000090.4(COL3A1):c.193A>G (p.Ile65Val)
|
rs1440480352
|
|
|
NM_000090.4(COL3A1):c.1957A>C (p.Asn653His)
|
|
|
|
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu)
|
rs587779620
|
|
|
NM_000090.4(COL3A1):c.1967C>G (p.Pro656Arg)
|
|
|
|
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu)
|
rs2153501357
|
|
|
NM_000090.4(COL3A1):c.1970G>A (p.Gly657Glu)
|
rs587779699
|
|
|
NM_000090.4(COL3A1):c.1971G>A (p.Gly657=)
|
|
|
|
NM_000090.4(COL3A1):c.1974A>G (p.Glu658=)
|
|
|
|
NM_000090.4(COL3A1):c.1974_1977+4del
|
rs587779475
|
|
|
NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr)
|
rs1064796979
|
|
|
NM_000090.4(COL3A1):c.1976C>A (p.Pro659Gln)
|
|
|
|
NM_000090.4(COL3A1):c.1977+16T>A
|
|
|
|
NM_000090.4(COL3A1):c.1977+2T>G
|
rs587779603
|
|
|
NM_000090.4(COL3A1):c.1977+5G>C
|
rs1553508544
|
|
|
NM_000090.4(COL3A1):c.1977+7T>C
|
rs2153502908
|
|
|
NM_000090.4(COL3A1):c.1977+9C>G
|
rs184223621
|
|
|
NM_000090.4(COL3A1):c.1978-18A>G
|
|
|
|
NM_000090.4(COL3A1):c.1978-4C>T
|
|
|
|
NM_000090.4(COL3A1):c.1978-6_1981del
|
rs587779700
|
|
|
NM_000090.4(COL3A1):c.1978G>A (p.Gly660Ser)
|
rs1688384382
|
|
|
NM_000090.4(COL3A1):c.1978G>C (p.Gly660Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1979G>A (p.Gly660Asp)
|
rs587779493
|
|
|
NM_000090.4(COL3A1):c.197T>G (p.Ile66Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1980T>A (p.Gly660=)
|
rs1553508597
|
|
|
NM_000090.4(COL3A1):c.1980T>C (p.Gly660=)
|
rs1553508597
|
|
|
NM_000090.4(COL3A1):c.1987G>A (p.Gly663Ser)
|
rs587779433
|
|
|
NM_000090.4(COL3A1):c.1987G>C (p.Gly663Arg)
|
rs587779433
|
|
|
NM_000090.4(COL3A1):c.1988G>A (p.Gly663Asp)
|
rs587779454
|
|
|
NM_000090.4(COL3A1):c.1988G>T (p.Gly663Val)
|
rs587779454
|
|
|
NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp)
|
rs121912921
|
|
|
NM_000090.4(COL3A1):c.1999G>T (p.Ala667Ser)
|
rs1688385247
|
|
|
NM_000090.4(COL3A1):c.1A>T (p.Met1Leu)
|
rs1687765120
|
|
|
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr)
|
rs1801183
|
|
|
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser)
|
rs1801183
|
|
|
NM_000090.4(COL3A1):c.2020A>G (p.Lys674Glu)
|
|
|
|
NM_000090.4(COL3A1):c.2021A>G (p.Lys674Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2022+10C>G
|
|
|
|
NM_000090.4(COL3A1):c.2022+10C>T
|
rs774439359
|
|
|
NM_000090.4(COL3A1):c.2022+14T>A
|
|
|
|
NM_000090.4(COL3A1):c.2022+17T>C
|
|
|
|
NM_000090.4(COL3A1):c.2022+19del
|
|
|
|
NM_000090.4(COL3A1):c.2022+2T>C
|
rs587779429
|
|
|
NM_000090.4(COL3A1):c.2022+4G>A
|
rs886038865
|
|
|
NM_000090.4(COL3A1):c.2022G>A (p.Lys674=)
|
rs587779643
|
|
|
NM_000090.4(COL3A1):c.2022G>T (p.Lys674Asn)
|
rs587779643
|
|
|
NM_000090.4(COL3A1):c.2023-17A>C
|
|
|
|
NM_000090.4(COL3A1):c.2023-17A>G
|
|
|
|
NM_000090.4(COL3A1):c.2023-1G>A
|
rs587779708
|
|
|
NM_000090.4(COL3A1):c.2023-4A>G
|
|
|
|
NM_000090.4(COL3A1):c.2023G>A (p.Gly675Ser)
|
rs2153502988
|
|
|
NM_000090.4(COL3A1):c.2024G>T (p.Gly675Val)
|
rs587779597
|
|
|
NM_000090.4(COL3A1):c.2030C>G (p.Ala677Gly)
|
rs2153502991
|
|
|
NM_000090.4(COL3A1):c.2032G>C (p.Gly678Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2034T>C (p.Gly678=)
|
|
|
|
NM_000090.4(COL3A1):c.2042G>A (p.Gly681Asp)
|
rs1173194734
|
|
|
NM_000090.4(COL3A1):c.2044G>A (p.Glu682Lys)
|
rs2153502995
|
|
|
NM_000090.4(COL3A1):c.2051G>A (p.Gly684Glu)
|
rs587779587
|
|
|
NM_000090.4(COL3A1):c.2051G>T (p.Gly684Val)
|
rs587779587
|
|
|
NM_000090.4(COL3A1):c.2053C>T (p.Pro685Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2059G>C (p.Gly687Arg)
|
rs587779577
|
|
|
NM_000090.4(COL3A1):c.205G>C (p.Asp69His)
|
|
|
|
NM_000090.4(COL3A1):c.2060G>C (p.Gly687Ala)
|
|
|
|
NM_000090.4(COL3A1):c.2062T>A (p.Leu688Met)
|
|
|
|
NM_000090.4(COL3A1):c.2065G>T (p.Ala689Ser)
|
rs886055331
|
|
|
NM_000090.4(COL3A1):c.2067_2072del (p.Gly690_Ala691del)
|
rs1576468160
|
|
|
NM_000090.4(COL3A1):c.2068G>A (p.Gly690Arg)
|
rs587779474
|
|
|
NM_000090.4(COL3A1):c.2069G>T (p.Gly690Val)
|
rs587779458
|
|
|
NM_000090.4(COL3A1):c.2070G>A (p.Gly690=)
|
rs1337071262
|
|
|
NM_000090.4(COL3A1):c.2071G>A (p.Ala691Thr)
|
|
|
|
NM_000090.4(COL3A1):c.2072C>T (p.Ala691Val)
|
rs199851835
|
|
|
NM_000090.4(COL3A1):c.2075C>T (p.Pro692Leu)
|
|
|
|
NM_000090.4(COL3A1):c.2078G>A (p.Gly693Glu)
|
|
|
|
NM_000090.4(COL3A1):c.2078G>C (p.Gly693Ala)
|
rs587779442
|
|
|
NM_000090.4(COL3A1):c.2078G>T (p.Gly693Val)
|
rs587779442
|
|
|
NM_000090.4(COL3A1):c.2079A>T (p.Gly693=)
|
|
|
|
NM_000090.4(COL3A1):c.2084G>A (p.Arg695Lys)
|
|
|
|
NM_000090.4(COL3A1):c.2085A>G (p.Arg695=)
|
|
|
|
NM_000090.4(COL3A1):c.2087G>A (p.Gly696Asp)
|
rs587779591
|
|
|
NM_000090.4(COL3A1):c.2095G>C (p.Gly699Arg)
|
rs587779668
|
|
|
NM_000090.4(COL3A1):c.2095G>T (p.Gly699Cys)
|
|
|
|
NM_000090.4(COL3A1):c.2096G>A (p.Gly699Asp)
|
rs587779706
|
|
|
NM_000090.4(COL3A1):c.2098C>A (p.Pro700Thr)
|
|
|
|
NM_000090.4(COL3A1):c.2098C>T (p.Pro700Ser)
|
rs1261828944
|
|
|
NM_000090.4(COL3A1):c.2101C>G (p.Pro701Ala)
|
rs762687549
|
|
|
NM_000090.4(COL3A1):c.2103T>C (p.Pro701=)
|
rs1688401379
|
|
|
NM_000090.4(COL3A1):c.2104G>A (p.Gly702Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2105G>A (p.Gly702Asp)
|
rs587779512
|
|
|
NM_000090.4(COL3A1):c.2105G>C (p.Gly702Ala)
|
rs587779512
|
|
|
NM_000090.4(COL3A1):c.2105G>T (p.Gly702Val)
|
rs587779512
|
|
|
NM_000090.4(COL3A1):c.2107C>T (p.Pro703Ser)
|
rs780123051
|
|
|
NM_000090.4(COL3A1):c.2108C>T (p.Pro703Leu)
|
rs1688401669
|
|
|
NM_000090.4(COL3A1):c.2113G>A (p.Gly705Arg)
|
rs587779623
|
|
|
NM_000090.4(COL3A1):c.2114G>A (p.Gly705Glu)
|
rs587779460
|
|
|
NM_000090.4(COL3A1):c.2115A>T (p.Gly705=)
|
|
|
|
NM_000090.4(COL3A1):c.2117G>A (p.Gly706Glu)
|
rs1688402397
|
|
|
NM_000090.4(COL3A1):c.2119_2121+11del
|
rs2153503009
|
|
|
NM_000090.4(COL3A1):c.2121+13C>T
|
|
|
|
NM_000090.4(COL3A1):c.2121+1G>C
|
rs587779675
|
|
|
NM_000090.4(COL3A1):c.2121+4del
|
rs1688402573
|
|
|
NM_000090.4(COL3A1):c.2122-11C>G
|
|
|
|
NM_000090.4(COL3A1):c.2122-19A>G
|
|
|
|
NM_000090.4(COL3A1):c.2122-3C>T
|
|
|
|
NM_000090.4(COL3A1):c.2122-9T>A
|
|
|
|
NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val)
|
rs111929073
|
|
|
NM_000090.4(COL3A1):c.2126C>A (p.Ala709Asp)
|
|
|
|
NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser)
|
rs587779695
|
|
|
NM_000090.4(COL3A1):c.2134_2160del (p.Pro712_Gly720del)
|
rs587779560
|
|
|
NM_000090.4(COL3A1):c.2135C>T (p.Pro712Leu)
|
rs780028064
|
|
|
NM_000090.4(COL3A1):c.2138C>T (p.Pro713Leu)
|
|
|
|
NM_000090.4(COL3A1):c.2140G>A (p.Gly714Arg)
|
rs587779437
|
|
|
NM_000090.4(COL3A1):c.2141G>A (p.Gly714Glu)
|
rs587779678
|
|
|
NM_000090.4(COL3A1):c.2142G>A (p.Gly714=)
|
|
|
|
NM_000090.4(COL3A1):c.2142_2168del (p.Pro715_Gly723del)
|
rs587779657
|
|
|
NM_000090.4(COL3A1):c.2146C>T (p.Pro716Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2149G>C (p.Gly717Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2150G>A (p.Gly717Asp)
|
rs587779549
|
|
|
NM_000090.4(COL3A1):c.2152G>T (p.Ala718Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2152_2153delinsTT (p.Ala718Phe)
|
rs2153503026
|
|
|
NM_000090.4(COL3A1):c.2153C>T (p.Ala718Val)
|
|
|
|
NM_000090.4(COL3A1):c.2155G>A (p.Ala719Thr)
|
|
|
|
NM_000090.4(COL3A1):c.2156C>G (p.Ala719Gly)
|
rs1559058681
|
|
|
NM_000090.4(COL3A1):c.2159G>A (p.Gly720Asp)
|
rs1576468332
|
|
|
NM_000090.4(COL3A1):c.2168G>A (p.Gly723Asp)
|
rs587779581
|
|
|
NM_000090.4(COL3A1):c.2176G>A (p.Gly726Arg)
|
rs587779638
|
|
|
NM_000090.4(COL3A1):c.2177G>A (p.Gly726Glu)
|
rs587779698
|
|
|
NM_000090.4(COL3A1):c.2185G>A (p.Gly729Arg)
|
rs587779543
|
|
|
NM_000090.4(COL3A1):c.2186G>A (p.Gly729Glu)
|
rs587779680
|
|
|
NM_000090.4(COL3A1):c.2186G>C (p.Gly729Ala)
|
|
|
|
NM_000090.4(COL3A1):c.2188G>C (p.Glu730Gln)
|
|
|
|
NM_000090.4(COL3A1):c.2188G>T (p.Glu730Ter)
|
|
|
|
NM_000090.4(COL3A1):c.218A>G (p.Asp73Gly)
|
|
|
|
NM_000090.4(COL3A1):c.2194G>A (p.Gly732Arg)
|
rs587779606
|
|
|
NM_000090.4(COL3A1):c.2199T>C (p.Gly733=)
|
rs762547633
|
|
|
NM_000090.4(COL3A1):c.2203G>A (p.Gly735Arg)
|
rs587779484
|
|
|
NM_000090.4(COL3A1):c.2205A>C (p.Gly735=)
|
|
|
|
NM_000090.4(COL3A1):c.2212G>A (p.Gly738Ser)
|
rs121912925
|
|
|
NM_000090.4(COL3A1):c.2212G>T (p.Gly738Cys)
|
rs121912925
|
|
|
NM_000090.4(COL3A1):c.2213G>T (p.Gly738Val)
|
rs587779615
|
|
|
NM_000090.4(COL3A1):c.2221G>A (p.Gly741Ser)
|
rs587779685
|
|
|
NM_000090.4(COL3A1):c.2222G>A (p.Gly741Asp)
|
rs553203474
|
|
|
NM_000090.4(COL3A1):c.2224G>T (p.Asp742Tyr)
|
|
|
|
NM_000090.4(COL3A1):c.2226C>A (p.Asp742Glu)
|
|
|
|
NM_000090.4(COL3A1):c.2229+10T>C
|
|
|
|
NM_000090.4(COL3A1):c.2229+1G>A
|
rs1576468385
|
|
|
NM_000090.4(COL3A1):c.222C>T (p.Cys74=)
|
rs1688032683
|
|
|
NM_000090.4(COL3A1):c.2230-18T>A
|
|
|
|
NM_000090.4(COL3A1):c.2230-18T>C
|
|
|
|
NM_000090.4(COL3A1):c.2230-5G>A
|
rs74458631
|
|
|
NM_000090.4(COL3A1):c.2230G>C (p.Gly744Arg)
|
rs2153503061
|
|
|
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)
|
|
|
|
NM_000090.4(COL3A1):c.2231G>T (p.Gly744Val)
|
rs587779697
|
|
|
NM_000090.4(COL3A1):c.2234A>T (p.Glu745Val)
|
|
|
|
NM_000090.4(COL3A1):c.2236C>T (p.Pro746Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2238A>G (p.Pro746=)
|
rs1311262989
|
|
|
NM_000090.4(COL3A1):c.2240G>A (p.Gly747Asp)
|
rs1688417659
|
|
|
NM_000090.4(COL3A1):c.2241C>A (p.Gly747=)
|
|
|
|
NM_000090.4(COL3A1):c.2247A>G (p.Pro749=)
|
rs1553508706
|
|
|
NM_000090.4(COL3A1):c.2248G>C (p.Gly750Arg)
|
rs1688418367
|
|
|
NM_000090.4(COL3A1):c.2253T>C (p.Ala751=)
|
|
|
|
NM_000090.4(COL3A1):c.2255A>G (p.Asp752Gly)
|
|
|
|
NM_000090.4(COL3A1):c.2257G>T (p.Gly753Cys)
|
rs2153503066
|
|
|
NM_000090.4(COL3A1):c.225C>A (p.Pro75=)
|
rs141335164
|
|
|
NM_000090.4(COL3A1):c.2261T>A (p.Val754Asp)
|
rs200390941
|
|
|
NM_000090.4(COL3A1):c.2262C>T (p.Val754=)
|
|
|
|
NM_000090.4(COL3A1):c.2265A>G (p.Pro755=)
|
rs1576468557
|
|
|
NM_000090.4(COL3A1):c.2266G>A (p.Gly756Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu)
|
rs1576468562
|
|
|
NM_000090.4(COL3A1):c.2268G>A (p.Gly756=)
|
|
|
|
NM_000090.4(COL3A1):c.2269A>G (p.Lys757Glu)
|
|
|
|
NM_000090.4(COL3A1):c.2273A>G (p.Asp758Gly)
|
rs2153503070
|
|
|
NM_000090.4(COL3A1):c.2276G>A (p.Gly759Asp)
|
rs587779418
|
|
|
NM_000090.4(COL3A1):c.2282G>A (p.Arg761Lys)
|
|
|
|
NM_000090.4(COL3A1):c.2283+12C>T
|
|
|
|
NM_000090.4(COL3A1):c.2283+15T>C
|
|
|
|
NM_000090.4(COL3A1):c.2283+17A>T
|
|
|
|
NM_000090.4(COL3A1):c.2283+1G>A
|
rs1559058970
|
|
|
NM_000090.4(COL3A1):c.2283+5G>A
|
|
|
|
NM_000090.4(COL3A1):c.2283+8T>A
|
|
|
|
NM_000090.4(COL3A1):c.2283+9T>A
|
|
|
|
NM_000090.4(COL3A1):c.2284-108_3490del
|
|
|
|
NM_000090.4(COL3A1):c.2284-15T>A
|
|
|
|
NM_000090.4(COL3A1):c.2284-17A>G
|
|
|
|
NM_000090.4(COL3A1):c.2284-2A>G
|
rs587779558
|
|
|
NM_000090.4(COL3A1):c.2284-4C>G
|
rs1576469212
|
|
|
NM_000090.4(COL3A1):c.2284-667_3256-44del
|
|
|
|
NM_000090.4(COL3A1):c.2284G>A (p.Gly762Ser)
|
rs587779694
|
|
|
NM_000090.4(COL3A1):c.2284G>C (p.Gly762Arg)
|
rs587779694
|
|
|
NM_000090.4(COL3A1):c.2285G>A (p.Gly762Asp)
|
rs587779541
|
|
|
NM_000090.4(COL3A1):c.2285G>T (p.Gly762Val)
|
rs587779541
|
|
|
NM_000090.4(COL3A1):c.2293G>A (p.Gly765Ser)
|
rs587779630
|
|
|
NM_000090.4(COL3A1):c.2294G>T (p.Gly765Val)
|
rs587779492
|
|
|
NM_000090.4(COL3A1):c.2296C>G (p.Pro766Ala)
|
|
|
|
NM_000090.4(COL3A1):c.2298T>G (p.Pro766=)
|
rs1278002435
|
|
|
NM_000090.4(COL3A1):c.2299A>G (p.Ile767Val)
|
|
|
|
NM_000090.4(COL3A1):c.2299A>T (p.Ile767Phe)
|
|
|
|
NM_000090.4(COL3A1):c.229C>T (p.Pro77Ser)
|
rs1688032952
|
|
|
NM_000090.4(COL3A1):c.22G>A (p.Gly8Arg)
|
rs1687765852
|
|
|
NM_000090.4(COL3A1):c.2301T>C (p.Ile767=)
|
rs1559059510
|
|
|
NM_000090.4(COL3A1):c.2302G>C (p.Gly768Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2304T>C (p.Gly768=)
|
|
|
|
NM_000090.4(COL3A1):c.2305CCT[1] (p.Pro770del)
|
rs2153503227
|
|
|
NM_000090.4(COL3A1):c.2308C>T (p.Pro770Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2312G>A (p.Gly771Asp)
|
rs1060500193
|
|
|
NM_000090.4(COL3A1):c.2319T>C (p.Ala773=)
|
rs2153503232
|
|
|
NM_000090.4(COL3A1):c.2321G>A (p.Gly774Asp)
|
|
|
|
NM_000090.4(COL3A1):c.2330G>A (p.Gly777Glu)
|
|
|
|
NM_000090.4(COL3A1):c.2337+15T>C
|
|
|
|
NM_000090.4(COL3A1):c.2337+1G>A
|
rs587779663
|
|
|
NM_000090.4(COL3A1):c.2337+2T>C
|
rs587779513
|
|
|
NM_000090.4(COL3A1):c.2337+7C>A
|
rs1060503874
|
|
|
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=)
|
rs587779461
|
|
|
NM_000090.4(COL3A1):c.2337G>C (p.Lys779Asn)
|
|
|
|
NM_000090.4(COL3A1):c.2338-31_3040-194del
|
|
|
|
NM_000090.4(COL3A1):c.2338-7T>C
|
rs1688463217
|
|
|
NM_000090.4(COL3A1):c.2350G>A (p.Ala784Thr)
|
|
|
|
NM_000090.4(COL3A1):c.2351C>A (p.Ala784Asp)
|
rs370292679
|
|
|
NM_000090.4(COL3A1):c.2355C>G (p.Pro785=)
|
rs148901664
|
|
|
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg)
|
rs113485686
|
|
|
NM_000090.4(COL3A1):c.2357G>T (p.Gly786Val)
|
rs587779564
|
|
|
NM_000090.4(COL3A1):c.2358A>G (p.Gly786=)
|
rs1207914999
|
|
|
NM_000090.4(COL3A1):c.2359C>A (p.Leu787Ile)
|
|
|
|
NM_000090.4(COL3A1):c.2362C>T (p.Pro788Ser)
|
rs749803388
|
|
|
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=)
|
rs886055332
|
|
|
NM_000090.4(COL3A1):c.2369T>C (p.Ile790Thr)
|
rs1179918994
|
|
|
NM_000090.4(COL3A1):c.2373T>C (p.Ala791=)
|
rs200452382
|
|
|
NM_000090.4(COL3A1):c.2373T>G (p.Ala791=)
|
|
|
|
NM_000090.4(COL3A1):c.2381G>A (p.Arg794His)
|
rs1332613006
|
|
|
NM_000090.4(COL3A1):c.2381G>C (p.Arg794Pro)
|
|
|
|
NM_000090.4(COL3A1):c.2381G>T (p.Arg794Leu)
|
|
|
|
NM_000090.4(COL3A1):c.2384G>A (p.Gly795Asp)
|
|
|
|
NM_000090.4(COL3A1):c.2388C>G (p.Ser796Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2389C>T (p.Pro797Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2391+12del
|
|
|
|
NM_000090.4(COL3A1):c.2391+16A>G
|
|
|
|
NM_000090.4(COL3A1):c.2391+18T>C
|
|
|
|
NM_000090.4(COL3A1):c.2392-16A>C
|
rs2153503297
|
|
|
NM_000090.4(COL3A1):c.2392-3_2395del
|
rs1559059873
|
|
|
NM_000090.4(COL3A1):c.2392-4T>A
|
|
|
|
NM_000090.4(COL3A1):c.2392-5T>A
|
|
|
|
NM_000090.4(COL3A1):c.2393G>A (p.Gly798Asp)
|
rs2153503300
|
|
|
NM_000090.4(COL3A1):c.2396A>T (p.Glu799Val)
|
|
|
|
NM_000090.4(COL3A1):c.2397G>A (p.Glu799=)
|
rs1338674766
|
|
|
NM_000090.4(COL3A1):c.2398_2401del (p.Arg800fs)
|
|
|
|
NM_000090.4(COL3A1):c.2399G>A (p.Arg800Lys)
|
rs199564715
|
|
|
NM_000090.4(COL3A1):c.23G>A (p.Gly8Glu)
|
rs2153500011
|
|
|
NM_000090.4(COL3A1):c.2402G>A (p.Gly801Asp)
|
rs587779689
|
|
|
NM_000090.4(COL3A1):c.2403T>C (p.Gly801=)
|
|
|
|
NM_000090.4(COL3A1):c.2415T>G (p.Pro805=)
|
|
|
|
NM_000090.4(COL3A1):c.2416C>T (p.Pro806Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2418A>G (p.Pro806=)
|
rs2153503304
|
|
|
NM_000090.4(COL3A1):c.2419G>A (p.Gly807Arg)
|
|
|
|
NM_000090.4(COL3A1):c.242T>C (p.Phe81Ser)
|
rs1576460785
|
|
|
NM_000090.4(COL3A1):c.2433C>T (p.Phe811=)
|
rs1688486002
|
|
|
NM_000090.4(COL3A1):c.2434C>T (p.Pro812Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2436T>C (p.Pro812=)
|
rs1214826179
|
|
|
NM_000090.4(COL3A1):c.2437G>A (p.Gly813Ser)
|
rs397509369
|
|
|
NM_000090.4(COL3A1):c.2438G>T (p.Gly813Val)
|
|
|
|
NM_000090.4(COL3A1):c.2440G>A (p.Ala814Thr)
|
rs1688486281
|
|
|
NM_000090.4(COL3A1):c.2441C>T (p.Ala814Val)
|
|
|
|
NM_000090.4(COL3A1):c.2445+14T>G
|
|
|
|
NM_000090.4(COL3A1):c.2445+15_2445+18del
|
|
|
|
NM_000090.4(COL3A1):c.2445+19A>G
|
rs776819930
|
|
|
NM_000090.4(COL3A1):c.2445+2dup
|
rs587779572
|
|
|
NM_000090.4(COL3A1):c.2445+5G>A
|
rs587779636
|
|
|
NM_000090.4(COL3A1):c.2446-10T>A
|
|
|
|
NM_000090.4(COL3A1):c.2446-12T>C
|
|
|
|
NM_000090.4(COL3A1):c.2446-15T>A
|
|
|
|
NM_000090.4(COL3A1):c.2446-3T>C
|
|
|
|
NM_000090.4(COL3A1):c.2446-5T>C
|
|
|
|
NM_000090.4(COL3A1):c.2456G>A (p.Gly819Asp)
|
rs2153503368
|
|
|
NM_000090.4(COL3A1):c.2457T>C (p.Gly819=)
|
rs2153503369
|
|
|
NM_000090.4(COL3A1):c.2458G>A (p.Glu820Lys)
|
|
|
|
NM_000090.4(COL3A1):c.2462C>T (p.Pro821Leu)
|
|
|
|
NM_000090.4(COL3A1):c.2482G>T (p.Gly828Trp)
|
rs587779486
|
|
|
NM_000090.4(COL3A1):c.2483G>A (p.Gly828Glu)
|
|
|
|
NM_000090.4(COL3A1):c.2484G>T (p.Gly828=)
|
|
|
|
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=)
|
rs777361888
|
|
|
NM_000090.4(COL3A1):c.2490G>C (p.Pro830=)
|
rs777361888
|
|
|
NM_000090.4(COL3A1):c.2490_2516del (p.Glu832_Gly840del)
|
rs397509374
|
|
|
NM_000090.4(COL3A1):c.2493T>C (p.Gly831=)
|
rs551541918
|
|
|
NM_000090.4(COL3A1):c.2494G>T (p.Glu832Ter)
|
rs1460396340
|
|
|
NM_000090.4(COL3A1):c.2498A>T (p.Lys833Ile)
|
|
|
|
NM_000090.4(COL3A1):c.2499A>G (p.Lys833=)
|
|
|
|
NM_000090.4(COL3A1):c.24G>A (p.Gly8=)
|
rs754759981
|
|
|
NM_000090.4(COL3A1):c.24G>C (p.Gly8=)
|
|
|
|
NM_000090.4(COL3A1):c.2500G>C (p.Gly834Arg)
|
rs2153503381
|
|
|
NM_000090.4(COL3A1):c.2501G>A (p.Gly834Asp)
|
rs587779642
|
|
|
NM_000090.4(COL3A1):c.2501G>C (p.Gly834Ala)
|
rs587779642
|
|
|
NM_000090.4(COL3A1):c.2503G>C (p.Glu835Gln)
|
|
|
|
NM_000090.4(COL3A1):c.2507G>A (p.Gly836Glu)
|
|
|
|
NM_000090.4(COL3A1):c.2510G>A (p.Gly837Asp)
|
rs587779526
|
|
|
NM_000090.4(COL3A1):c.2511C>T (p.Gly837=)
|
|
|
|
NM_000090.4(COL3A1):c.2515C>T (p.Pro839Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2521G>T (p.Val841Phe)
|
rs1688502124
|
|
|
NM_000090.4(COL3A1):c.2522T>C (p.Val841Ala)
|
rs1466306398
|
|
|
NM_000090.4(COL3A1):c.2525C>T (p.Ala842Val)
|
|
|
|
NM_000090.4(COL3A1):c.2530C>A (p.Pro844Thr)
|
|
|
|
NM_000090.4(COL3A1):c.2530C>G (p.Pro844Ala)
|
rs780490668
|
|
|
NM_000090.4(COL3A1):c.2533C>A (p.Pro845Thr)
|
|
|
|
NM_000090.4(COL3A1):c.2534dup (p.Gly846fs)
|
rs587779653
|
|
|
NM_000090.4(COL3A1):c.253T>C (p.Cys85Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2540G>T (p.Gly847Val)
|
rs1336654706
|
|
|
NM_000090.4(COL3A1):c.2541T>C (p.Gly847=)
|
|
|
|
NM_000090.4(COL3A1):c.2544T>C (p.Ser848=)
|
|
|
|
NM_000090.4(COL3A1):c.2547A>G (p.Gly849=)
|
rs2153503385
|
|
|
NM_000090.4(COL3A1):c.2553+11T>C
|
rs1237495499
|
|
|
NM_000090.4(COL3A1):c.2553+17_2553+22del
|
|
|
|
NM_000090.4(COL3A1):c.2553+1G>A
|
rs587779664
|
|
|
NM_000090.4(COL3A1):c.2553+1G>C
|
rs587779664
|
|
|
NM_000090.4(COL3A1):c.2553+1del
|
rs587779514
|
|
|
NM_000090.4(COL3A1):c.2553+21_2553+22del
|
|
|
|
NM_000090.4(COL3A1):c.2553+23_2553+26del
|
rs982921278
|
|
|
NM_000090.4(COL3A1):c.2553+2T>C
|
rs587779684
|
|
|
NM_000090.4(COL3A1):c.2553+3A>T
|
rs587779713
|
|
|
NM_000090.4(COL3A1):c.2553+5G>T
|
rs397509371
|
|
|
NM_000090.4(COL3A1):c.2554-10T>C
|
|
|
|
NM_000090.4(COL3A1):c.2554-11A>G
|
|
|
|
NM_000090.4(COL3A1):c.2554-14T>A
|
|
|
|
NM_000090.4(COL3A1):c.2554-1G>A
|
rs587779519
|
|
|
NM_000090.4(COL3A1):c.2554-2A>G
|
|
|
|
NM_000090.4(COL3A1):c.2554-6A>G
|
rs1688514197
|
|
|
NM_000090.4(COL3A1):c.2554-6A>T
|
|
|
|
NM_000090.4(COL3A1):c.2554G>T (p.Gly852Cys)
|
rs587779690
|
|
|
NM_000090.4(COL3A1):c.2555G>A (p.Gly852Asp)
|
rs587779494
|
|
|
NM_000090.4(COL3A1):c.2558_2559insATTAGGTGTCAAAGGTGAACGTGGCAG (p.Pro853_Pro854insLeuGlyValLysGlyGluArgGlySer)
|
rs1135402747
|
|
|
NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys)
|
rs2153503430
|
|
|
NM_000090.4(COL3A1):c.2564G>A (p.Gly855Asp)
|
rs587779466
|
|
|
NM_000090.4(COL3A1):c.2569C>T (p.Gln857Ter)
|
rs1559060412
|
|
|
NM_000090.4(COL3A1):c.2573G>T (p.Gly858Val)
|
rs587779717
|
|
|
NM_000090.4(COL3A1):c.2575G>A (p.Val859Ile)
|
|
|
|
NM_000090.4(COL3A1):c.257C>T (p.Ala86Val)
|
|
|
|
NM_000090.4(COL3A1):c.2587C>A (p.Arg863Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His)
|
rs755762264
|
|
|
NM_000090.4(COL3A1):c.2588G>T (p.Arg863Leu)
|
|
|
|
NM_000090.4(COL3A1):c.258A>T (p.Ala86=)
|
rs775636888
|
|
|
NM_000090.4(COL3A1):c.2593A>G (p.Ser865Gly)
|
|
|
|
NM_000090.4(COL3A1):c.2600G>A (p.Gly867Asp)
|
rs587779417
|
|
|
NM_000090.4(COL3A1):c.2601T>C (p.Gly867=)
|
|
|
|
NM_000090.4(COL3A1):c.2604A>T (p.Gly868=)
|
rs1688516007
|
|
|
NM_000090.4(COL3A1):c.2605C>A (p.Pro869Thr)
|
rs758992360
|
|
|
NM_000090.4(COL3A1):c.2606C>A (p.Pro869His)
|
rs794728052
|
|
|
NM_000090.4(COL3A1):c.2607+16C>G
|
|
|
|
NM_000090.4(COL3A1):c.2607+19A>C
|
|
|
|
NM_000090.4(COL3A1):c.2607+5G>A
|
rs587779457
|
|
|
NM_000090.4(COL3A1):c.2607+5G>T
|
rs587779457
|
|
|
NM_000090.4(COL3A1):c.2608-16_2608-12del
|
|
|
|
NM_000090.4(COL3A1):c.2610T>C (p.Gly870=)
|
rs1474368726
|
|
|
NM_000090.4(COL3A1):c.2614G>C (p.Ala872Pro)
|
rs1475390693
|
|
|
NM_000090.4(COL3A1):c.2622C>T (p.Phe874=)
|
|
|
|
NM_000090.4(COL3A1):c.2623C>T (p.Pro875Ser)
|
rs761222859
|
|
|
NM_000090.4(COL3A1):c.2628T>C (p.Gly876=)
|
|
|
|
NM_000090.4(COL3A1):c.2631T>C (p.Ala877=)
|
|
|
|
NM_000090.4(COL3A1):c.2632C>T (p.Arg878Cys)
|
|
|
|
NM_000090.4(COL3A1):c.2633G>T (p.Arg878Leu)
|
rs1419949637
|
|
|
NM_000090.4(COL3A1):c.2636G>T (p.Gly879Val)
|
rs587779645
|
|
|
NM_000090.4(COL3A1):c.2639T>C (p.Leu880Pro)
|
|
|
|
NM_000090.4(COL3A1):c.2645G>A (p.Gly882Asp)
|
rs587779622
|
|
|
NM_000090.4(COL3A1):c.2647_2655dup (p.Gly885_Ser886insProProGly)
|
|
|
|
NM_000090.4(COL3A1):c.2655_2661+7delinsGACCTGAGAC
|
rs587779590
|
|
|
NM_000090.4(COL3A1):c.2657G>C (p.Ser886Thr)
|
|
|
|
NM_000090.4(COL3A1):c.2661+11G>A
|
|
|
|
NM_000090.4(COL3A1):c.2661+13T>G
|
|
|
|
NM_000090.4(COL3A1):c.2661+14A>T
|
|
|
|
NM_000090.4(COL3A1):c.2661+9T>C
|
|
|
|
NM_000090.4(COL3A1):c.2661T>C (p.Asn887=)
|
rs1306865410
|
|
|
NM_000090.4(COL3A1):c.2662-11A>C
|
|
|
|
NM_000090.4(COL3A1):c.2662-12A>C
|
|
|
|
NM_000090.4(COL3A1):c.2662-16A>C
|
|
|
|
NM_000090.4(COL3A1):c.2662-16A>G
|
|
|
|
NM_000090.4(COL3A1):c.2662-4G>A
|
|
|
|
NM_000090.4(COL3A1):c.2662-6T>C
|
rs2153503492
|
|
|
NM_000090.4(COL3A1):c.2668C>G (p.Pro890Ala)
|
rs794728053
|
|
|
NM_000090.4(COL3A1):c.2669C>T (p.Pro890Leu)
|
|
|
|
NM_000090.4(COL3A1):c.2671G>A (p.Gly891Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2672G>A (p.Gly891Glu)
|
rs1688528616
|
|
|
NM_000090.4(COL3A1):c.2675C>T (p.Pro892Leu)
|
rs1447793042
|
|
|
NM_000090.4(COL3A1):c.2678C>G (p.Pro893Arg)
|
rs1455100373
|
|
|
NM_000090.4(COL3A1):c.2681G>C (p.Gly894Ala)
|
rs587779589
|
|
|
NM_000090.4(COL3A1):c.2685C>T (p.Pro895=)
|
|
|
|
NM_000090.4(COL3A1):c.2690G>A (p.Gly897Asp)
|
rs1688529460
|
|
|
NM_000090.4(COL3A1):c.2699G>A (p.Gly900Asp)
|
rs587779599
|
|
|
NM_000090.4(COL3A1):c.2703G>C (p.Lys901Asn)
|
|
|
|
NM_000090.4(COL3A1):c.2708G>A (p.Gly903Glu)
|
rs587779505
|
|
|
NM_000090.4(COL3A1):c.2711C>T (p.Pro904Leu)
|
|
|
|
NM_000090.4(COL3A1):c.2714C>T (p.Pro905Leu)
|
rs886055333
|
|
|
NM_000090.4(COL3A1):c.2716G>C (p.Gly906Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val)
|
rs144036995
|
|
|
NM_000090.4(COL3A1):c.2726G>A (p.Gly909Asp)
|
rs587779483
|
|
|
NM_000090.4(COL3A1):c.2726G>T (p.Gly909Val)
|
rs587779483
|
|
|
NM_000090.4(COL3A1):c.2734G>A (p.Gly912Ser)
|
rs2153503495
|
|
|
NM_000090.4(COL3A1):c.2735G>A (p.Gly912Asp)
|
rs587779716
|
|
|
NM_000090.4(COL3A1):c.2742T>C (p.Pro914=)
|
|
|
|
NM_000090.4(COL3A1):c.2743G>A (p.Gly915Ser)
|
rs2153503498
|
|
|
NM_000090.4(COL3A1):c.2745C>A (p.Gly915=)
|
|
|
|
NM_000090.4(COL3A1):c.2745C>T (p.Gly915=)
|
|
|
|
NM_000090.4(COL3A1):c.2749C>T (p.Pro917Ser)
|
rs991559993
|
|
|
NM_000090.4(COL3A1):c.2752G>A (p.Gly918Arg)
|
rs1085307896
|
|
|
NM_000090.4(COL3A1):c.2753G>A (p.Gly918Glu)
|
rs587779662
|
|
|
NM_000090.4(COL3A1):c.2762G>A (p.Gly921Glu)
|
rs1553509187
|
|
|
NM_000090.4(COL3A1):c.2769A>G (p.Lys923=)
|
|
|
|
NM_000090.4(COL3A1):c.2770G>A (p.Gly924Ser)
|
rs587779471
|
|
|
NM_000090.4(COL3A1):c.2770G>T (p.Gly924Cys)
|
rs587779471
|
|
|
NM_000090.4(COL3A1):c.2771G>A (p.Gly924Asp)
|
rs587779450
|
|
|
NM_000090.4(COL3A1):c.2771G>T (p.Gly924Val)
|
rs587779450
|
|
|
NM_000090.4(COL3A1):c.2776G>A (p.Ala926Thr)
|
|
|
|
NM_000090.4(COL3A1):c.2780G>A (p.Gly927Asp)
|
rs587779432
|
|
|
NM_000090.4(COL3A1):c.2784A>C (p.Gln928His)
|
rs2153503501
|
|
|
NM_000090.4(COL3A1):c.2786C>A (p.Pro929Gln)
|
|
|
|
NM_000090.4(COL3A1):c.278C>A (p.Thr93Asn)
|
rs2153501376
|
|
|
NM_000090.4(COL3A1):c.2791G>A (p.Glu931Lys)
|
rs1553509193
|
|
|
NM_000090.4(COL3A1):c.2797G>A (p.Gly933Arg)
|
rs1688532582
|
|
|
NM_000090.4(COL3A1):c.2797G>T (p.Gly933Ter)
|
|
|
|
NM_000090.4(COL3A1):c.2798dup (p.Ser934fs)
|
|
|
|
NM_000090.4(COL3A1):c.2801C>T (p.Ser934Leu)
|
rs753621331
|
|
|
NM_000090.4(COL3A1):c.2801del (p.Ser934fs)
|
|
|
|
NM_000090.4(COL3A1):c.2804C>G (p.Pro935Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2806G>C (p.Gly936Arg)
|
rs587779566
|
|
|
NM_000090.4(COL3A1):c.2809G>A (p.Ala937Thr)
|
rs1688533171
|
|
|
NM_000090.4(COL3A1):c.2815G>A (p.Gly939Ser)
|
rs587779550
|
|
|
NM_000090.4(COL3A1):c.2815G>T (p.Gly939Cys)
|
rs587779550
|
|
|
NM_000090.4(COL3A1):c.2819C>A (p.Pro940Gln)
|
rs1221479337
|
|
|
NM_000090.4(COL3A1):c.282+13A>T
|
rs754113375
|
|
|
NM_000090.4(COL3A1):c.282+20_282+21del
|
|
|
|
NM_000090.4(COL3A1):c.282+9A>G
|
rs2153501381
|
|
|
NM_000090.4(COL3A1):c.2823+10T>C
|
|
|
|
NM_000090.4(COL3A1):c.2823+1G>A
|
rs587779424
|
|
|
NM_000090.4(COL3A1):c.2823+1G>T
|
rs587779424
|
|
|
NM_000090.4(COL3A1):c.2823+4A>G
|
|
|
|
NM_000090.4(COL3A1):c.2824-14A>G
|
|
|
|
NM_000090.4(COL3A1):c.2824-15C>T
|
|
|
|
NM_000090.4(COL3A1):c.2824-1G>A
|
rs587779617
|
|
|
NM_000090.4(COL3A1):c.2824-3T>C
|
|
|
|
NM_000090.4(COL3A1):c.2824-5A>G
|
rs373994011
|
|
|
NM_000090.4(COL3A1):c.2824-6T>C
|
|
|
|
NM_000090.4(COL3A1):c.2824-8T>C
|
|
|
|
NM_000090.4(COL3A1):c.2824-9C>T
|
rs1553509204
|
|
|
NM_000090.4(COL3A1):c.2824G>A (p.Gly942Arg)
|
rs587779438
|
|
|
NM_000090.4(COL3A1):c.2825G>A (p.Gly942Glu)
|
rs587779517
|
|
|
NM_000090.4(COL3A1):c.2828del (p.Ala943fs)
|
rs1553509208
|
|
|
NM_000090.4(COL3A1):c.283-10C>T
|
|
|
|
NM_000090.4(COL3A1):c.283-12del
|
|
|
|
NM_000090.4(COL3A1):c.283-20_283-17del
|
|
|
|
NM_000090.4(COL3A1):c.2833G>A (p.Gly945Ser)
|
rs587779567
|
|
|
NM_000090.4(COL3A1):c.2835C>T (p.Gly945=)
|
|
|
|
NM_000090.4(COL3A1):c.2838A>T (p.Pro946=)
|
rs1576470760
|
|
|
NM_000090.4(COL3A1):c.2839C>T (p.Leu947Phe)
|
rs1060500198
|
|
|
NM_000090.4(COL3A1):c.2841T>C (p.Leu947=)
|
rs1576470766
|
|
|
NM_000090.4(COL3A1):c.2842G>A (p.Gly948Arg)
|
rs587779447
|
|
|
NM_000090.4(COL3A1):c.2843G>A (p.Gly948Glu)
|
rs878853651
|
|
|
NM_000090.4(COL3A1):c.2844G>A (p.Gly948=)
|
rs1688537796
|
|
|
NM_000090.4(COL3A1):c.2850T>C (p.Ala950=)
|
|
|
|
NM_000090.4(COL3A1):c.2853G>A (p.Gly951=)
|
|
|
|
NM_000090.4(COL3A1):c.2860G>A (p.Gly954Arg)
|
rs587779674
|
|
|
NM_000090.4(COL3A1):c.2861G>A (p.Gly954Glu)
|
rs587779434
|
|
|
NM_000090.4(COL3A1):c.2862A>T (p.Gly954=)
|
rs1377418572
|
|
|
NM_000090.4(COL3A1):c.2867G>A (p.Arg956Gln)
|
|
|
|
NM_000090.4(COL3A1):c.2867G>C (p.Arg956Pro)
|
|
|
|
NM_000090.4(COL3A1):c.2867G>T (p.Arg956Leu)
|
|
|
|
NM_000090.4(COL3A1):c.2869G>A (p.Gly957Ser)
|
rs121912913
|
|
|
NM_000090.4(COL3A1):c.2869G>T (p.Gly957Cys)
|
rs121912913
|
|
|
NM_000090.4(COL3A1):c.286A>G (p.Thr96Ala)
|
|
|
|
NM_000090.4(COL3A1):c.2870G>A (p.Gly957Asp)
|
rs587779654
|
|
|
NM_000090.4(COL3A1):c.2870G>T (p.Gly957Val)
|
rs587779654
|
|
|
NM_000090.4(COL3A1):c.2876C>T (p.Ala959Val)
|
rs2153503530
|
|
|
NM_000090.4(COL3A1):c.2879G>T (p.Gly960Val)
|
rs121912922
|
|
|
NM_000090.4(COL3A1):c.2886A>G (p.Pro962=)
|
|
|
|
NM_000090.4(COL3A1):c.2887G>C (p.Gly963Arg)
|
rs587779640
|
|
|
NM_000090.4(COL3A1):c.2887G>T (p.Gly963Cys)
|
rs587779640
|
|
|
NM_000090.4(COL3A1):c.2888G>A (p.Gly963Asp)
|
rs587779511
|
|
|
NM_000090.4(COL3A1):c.2888G>T (p.Gly963Val)
|
rs587779511
|
|
|
NM_000090.4(COL3A1):c.2888del (p.Gly963fs)
|
|
|
|
NM_000090.4(COL3A1):c.2897G>T (p.Gly966Val)
|
rs587779571
|
|
|
NM_000090.4(COL3A1):c.289C>G (p.Arg97Gly)
|
rs768671254
|
|
|
NM_000090.4(COL3A1):c.2903G>A (p.Arg968Lys)
|
|
|
|
NM_000090.4(COL3A1):c.2905G>A (p.Gly969Arg)
|
rs587779580
|
|
|
NM_000090.4(COL3A1):c.2906G>A (p.Gly969Glu)
|
|
|
|
NM_000090.4(COL3A1):c.290G>A (p.Arg97His)
|
rs1197947308
|
|
|
NM_000090.4(COL3A1):c.290G>T (p.Arg97Leu)
|
rs1197947308
|
|
|
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser)
|
rs587779723
|
|
|
NM_000090.4(COL3A1):c.2915G>A (p.Gly972Asp)
|
rs587779559
|
|
|
NM_000090.4(COL3A1):c.2915G>C (p.Gly972Ala)
|
rs587779559
|
|
|
NM_000090.4(COL3A1):c.2924G>T (p.Gly975Val)
|
rs587779542
|
|
|
NM_000090.4(COL3A1):c.2927T>C (p.Val976Ala)
|
rs886038939
|
|
|
NM_000090.4(COL3A1):c.2928C>A (p.Val976=)
|
rs2153503539
|
|
|
NM_000090.4(COL3A1):c.2931+1G>A
|
rs397509373
|
|
|
NM_000090.4(COL3A1):c.2931+20A>G
|
rs1553509243
|
|
|
NM_000090.4(COL3A1):c.2931+3G>C
|
|
|
|
NM_000090.4(COL3A1):c.2932-10T>A
|
|
|
|
NM_000090.4(COL3A1):c.2932-10T>C
|
|
|
|
NM_000090.4(COL3A1):c.2932-15T>C
|
|
|
|
NM_000090.4(COL3A1):c.2932-16A>T
|
|
|
|
NM_000090.4(COL3A1):c.2932-6A>T
|
rs1688561621
|
|
|
NM_000090.4(COL3A1):c.2932-8G>A
|
|
|
|
NM_000090.4(COL3A1):c.2932G>A (p.Gly978Ser)
|
rs1688561706
|
|
|
NM_000090.4(COL3A1):c.2933G>A (p.Gly978Asp)
|
rs587779595
|
|
|
NM_000090.4(COL3A1):c.2935G>T (p.Glu979Ter)
|
rs587779488
|
|
|
NM_000090.4(COL3A1):c.2939G>C (p.Ser980Thr)
|
|
|
|
NM_000090.4(COL3A1):c.2941G>A (p.Gly981Arg)
|
rs587779449
|
|
|
NM_000090.4(COL3A1):c.2941G>C (p.Gly981Arg)
|
rs587779449
|
|
|
NM_000090.4(COL3A1):c.2943G>A (p.Gly981=)
|
rs2153503629
|
|
|
NM_000090.4(COL3A1):c.2950_2951delinsAC (p.Gly984Thr)
|
rs1559061242
|
|
|
NM_000090.4(COL3A1):c.2955_2958dup (p.Gly987Ter)
|
rs2153503632
|
|
|
NM_000090.4(COL3A1):c.2958_2959insCGT (p.Asn986_Gly987insArg)
|
|
|
|
NM_000090.4(COL3A1):c.2959G>A (p.Gly987Ser)
|
rs587779583
|
|
|
NM_000090.4(COL3A1):c.2959G>T (p.Gly987Cys)
|
|
|
|
NM_000090.4(COL3A1):c.2963T>A (p.Leu988His)
|
rs770525372
|
|
|
NM_000090.4(COL3A1):c.2963T>C (p.Leu988Pro)
|
rs770525372
|
|
|
NM_000090.4(COL3A1):c.2967T>G (p.Ser989Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2971G>A (p.Glu991Lys)
|
|
|
|
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His)
|
rs374527092
|
|
|
NM_000090.4(COL3A1):c.2977G>T (p.Gly993Cys)
|
rs587779416
|
|
|
NM_000090.4(COL3A1):c.2978G>A (p.Gly993Asp)
|
rs587779456
|
|
|
NM_000090.4(COL3A1):c.2981C>A (p.Pro994His)
|
rs1688563132
|
|
|
NM_000090.4(COL3A1):c.2981C>T (p.Pro994Leu)
|
rs1688563132
|
|
|
NM_000090.4(COL3A1):c.2982C>A (p.Pro994=)
|
|
|
|
NM_000090.4(COL3A1):c.2982C>G (p.Pro994=)
|
|
|
|
NM_000090.4(COL3A1):c.2983C>T (p.Pro995Ser)
|
rs1421131137
|
|
|
NM_000090.4(COL3A1):c.2984C>G (p.Pro995Arg)
|
|
|
|
NM_000090.4(COL3A1):c.2986G>A (p.Gly996Arg)
|
rs2153503634
|
|
|
NM_000090.4(COL3A1):c.2987G>A (p.Gly996Glu)
|
rs587779576
|
|
|
NM_000090.4(COL3A1):c.2989C>T (p.Pro997Ser)
|
rs1060500202
|
|
|
NM_000090.4(COL3A1):c.2993A>G (p.Gln998Arg)
|
rs139859476
|
|
|
NM_000090.4(COL3A1):c.2993A>T (p.Gln998Leu)
|
rs139859476
|
|
|
NM_000090.4(COL3A1):c.2995G>A (p.Gly999Ser)
|
rs587779548
|
|
|
NM_000090.4(COL3A1):c.2995G>C (p.Gly999Arg)
|
rs587779548
|
|
|
NM_000090.4(COL3A1):c.2996G>A (p.Gly999Asp)
|
|
|
|
NM_000090.4(COL3A1):c.2998C>T (p.Leu1000Phe)
|
|
|
|
NM_000090.4(COL3A1):c.3006T>C (p.Gly1002=)
|
|
|
|
NM_000090.4(COL3A1):c.3009G>A (p.Leu1003=)
|
|
|
|
NM_000090.4(COL3A1):c.3009G>T (p.Leu1003=)
|
rs762167409
|
|
|
NM_000090.4(COL3A1):c.300T>G (p.Asn100Lys)
|
rs776373729
|
|
|
NM_000090.4(COL3A1):c.3014G>C (p.Gly1005Ala)
|
|
|
|
NM_000090.4(COL3A1):c.301G>T (p.Gly101Cys)
|
|
|
|
NM_000090.4(COL3A1):c.3023G>A (p.Gly1008Asp)
|
rs587779659
|
|
|
NM_000090.4(COL3A1):c.3025G>C (p.Glu1009Gln)
|
|
|
|
NM_000090.4(COL3A1):c.3025G>T (p.Glu1009Ter)
|
|
|
|
NM_000090.4(COL3A1):c.3028C>T (p.Pro1010Ser)
|
|
|
|
NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)
|
|
|
|
NM_000090.4(COL3A1):c.3032G>A (p.Gly1011Glu)
|
rs587779552
|
|
|
NM_000090.4(COL3A1):c.3039+154_3525+223del
|
|
|
|
NM_000090.4(COL3A1):c.3039+1G>A
|
rs587779506
|
|
|
NM_000090.4(COL3A1):c.3039+5G>A
|
rs587779568
|
|
|
NM_000090.4(COL3A1):c.3039+6T>C
|
rs587779532
|
|
|
NM_000090.4(COL3A1):c.3039+8G>A
|
|
|
|
NM_000090.4(COL3A1):c.3040-127_3255+107del
|
|
|
|
NM_000090.4(COL3A1):c.3040-3C>G
|
rs2153503706
|
|
|
NM_000090.4(COL3A1):c.3040-7T>C
|
rs996543982
|
|
|
NM_000090.4(COL3A1):c.3040-7dup
|
|
|
|
NM_000090.4(COL3A1):c.3040-8T>G
|
|
|
|
NM_000090.4(COL3A1):c.3040G>A (p.Gly1014Arg)
|
rs1553509391
|
|
|
NM_000090.4(COL3A1):c.3041G>A (p.Gly1014Glu)
|
rs121912916
|
|
|
NM_000090.4(COL3A1):c.3046C>A (p.Pro1016Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3049G>A (p.Gly1017Arg)
|
rs1553509397
|
|
|
NM_000090.4(COL3A1):c.3058G>T (p.Gly1020Cys)
|
|
|
|
NM_000090.4(COL3A1):c.3062_3064del (p.Leu1021del)
|
rs587779529
|
|
|
NM_000090.4(COL3A1):c.3064C>T (p.Pro1022Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3065C>T (p.Pro1022Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3068G>A (p.Gly1023Asp)
|
rs1553509401
|
|
|
NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter)
|
rs587779479
|
|
|
NM_000090.4(COL3A1):c.3073G>A (p.Asp1025Asn)
|
|
|
|
NM_000090.4(COL3A1):c.3074A>C (p.Asp1025Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3075T>C (p.Asp1025=)
|
|
|
|
NM_000090.4(COL3A1):c.3077G>C (p.Gly1026Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3079T>G (p.Ser1027Ala)
|
|
|
|
NM_000090.4(COL3A1):c.307G>A (p.Gly103Arg)
|
|
|
|
NM_000090.4(COL3A1):c.3082C>T (p.Pro1028Ser)
|
rs2153503710
|
|
|
NM_000090.4(COL3A1):c.3085G>T (p.Gly1029Cys)
|
|
|
|
NM_000090.4(COL3A1):c.3089G>A (p.Gly1030Asp)
|
|
|
|
NM_000090.4(COL3A1):c.3089G>T (p.Gly1030Val)
|
|
|
|
NM_000090.4(COL3A1):c.3093+18G>A
|
|
|
|
NM_000090.4(COL3A1):c.3093+1G>A
|
rs869312034
|
|
|
NM_000090.4(COL3A1):c.3093+1G>T
|
rs869312034
|
|
|
NM_000090.4(COL3A1):c.3093+20A>C
|
|
|
|
NM_000090.4(COL3A1):c.3093+2T>C
|
rs587779503
|
|
|
NM_000090.4(COL3A1):c.3093+2T>G
|
rs587779503
|
|
|
NM_000090.4(COL3A1):c.3093+3A>C
|
rs771429937
|
|
|
NM_000090.4(COL3A1):c.3093+4T>C
|
|
|
|
NM_000090.4(COL3A1):c.3093+5A>G
|
rs1688583785
|
|
|
NM_000090.4(COL3A1):c.3093G>A (p.Lys1031=)
|
rs1688583589
|
|
|
NM_000090.4(COL3A1):c.3094-10_3094delinsGT
|
rs1559061674
|
|
|
NM_000090.4(COL3A1):c.3094-4A>G
|
|
|
|
NM_000090.4(COL3A1):c.3094-8G>A
|
|
|
|
NM_000090.4(COL3A1):c.3094-8G>T
|
|
|
|
NM_000090.4(COL3A1):c.3094G>A (p.Gly1032Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3095G>T (p.Gly1032Val)
|
rs587779428
|
|
|
NM_000090.4(COL3A1):c.30G>A (p.Trp10Ter)
|
rs587779677
|
|
|
NM_000090.4(COL3A1):c.30G>C (p.Trp10Cys)
|
|
|
|
NM_000090.4(COL3A1):c.3102T>G (p.Arg1034=)
|
rs1399453028
|
|
|
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser)
|
rs587779704
|
|
|
NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys)
|
rs587779704
|
|
|
NM_000090.4(COL3A1):c.3104G>T (p.Gly1035Val)
|
rs587779582
|
|
|
NM_000090.4(COL3A1):c.310C>G (p.Pro104Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg)
|
rs1559061706
|
|
|
NM_000090.4(COL3A1):c.3115T>G (p.Ser1039Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3119C>T (p.Pro1040Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3121G>C (p.Gly1041Arg)
|
rs1688586251
|
|
|
NM_000090.4(COL3A1):c.3122G>T (p.Gly1041Val)
|
rs587779491
|
|
|
NM_000090.4(COL3A1):c.3125C>T (p.Ala1042Val)
|
|
|
|
NM_000090.4(COL3A1):c.3126C>T (p.Ala1042=)
|
rs1576471813
|
|
|
NM_000090.4(COL3A1):c.3129T>C (p.Pro1043=)
|
|
|
|
NM_000090.4(COL3A1):c.3135T>G (p.Ala1045=)
|
|
|
|
NM_000090.4(COL3A1):c.3140G>A (p.Gly1047Asp)
|
rs587779545
|
|
|
NM_000090.4(COL3A1):c.3141T>A (p.Gly1047=)
|
rs1443252912
|
|
|
NM_000090.4(COL3A1):c.3142C>T (p.His1048Tyr)
|
|
|
|
NM_000090.4(COL3A1):c.3143A>G (p.His1048Arg)
|
rs2153503727
|
|
|
NM_000090.4(COL3A1):c.3143_3160dup (p.Gly1053_Pro1054insHisProGlyProProGly)
|
|
|
|
NM_000090.4(COL3A1):c.3149G>A (p.Gly1050Asp)
|
rs121912914
|
|
|
NM_000090.4(COL3A1):c.3149G>T (p.Gly1050Val)
|
rs121912914
|
|
|
NM_000090.4(COL3A1):c.3150C>T (p.Gly1050=)
|
|
|
|
NM_000090.4(COL3A1):c.3154C>T (p.Pro1052Ser)
|
rs2153503729
|
|
|
NM_000090.4(COL3A1):c.3157G>C (p.Gly1053Arg)
|
rs587779651
|
|
|
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp)
|
rs1576471840
|
|
|
NM_000090.4(COL3A1):c.3160C>T (p.Pro1054Ser)
|
rs1576471847
|
|
|
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=)
|
rs1576471851
|
|
|
NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp)
|
rs587779540
|
|
|
NM_000090.4(COL3A1):c.3170C>G (p.Pro1057Arg)
|
rs1576471860
|
|
|
NM_000090.4(COL3A1):c.3176G>T (p.Gly1059Val)
|
rs587779619
|
|
|
NM_000090.4(COL3A1):c.3184G>A (p.Gly1062Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3185G>A (p.Gly1062Asp)
|
|
|
|
NM_000090.4(COL3A1):c.3186T>C (p.Gly1062=)
|
|
|
|
NM_000090.4(COL3A1):c.318C>T (p.Gly106=)
|
rs2153501417
|
|
|
NM_000090.4(COL3A1):c.318_325del (p.Pro107fs)
|
rs2153501416
|
|
|
NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg)
|
rs587779563
|
|
|
NM_000090.4(COL3A1):c.3194G>A (p.Gly1065Glu)
|
rs1553509430
|
|
|
NM_000090.4(COL3A1):c.3200G>A (p.Ser1067Asn)
|
rs886039067
|
|
|
NM_000090.4(COL3A1):c.3200G>T (p.Ser1067Ile)
|
|
|
|
NM_000090.4(COL3A1):c.3201+10C>G
|
rs372405344
|
|
|
NM_000090.4(COL3A1):c.3201+10C>T
|
rs372405344
|
|
|
NM_000090.4(COL3A1):c.3202-15A>G
|
|
|
|
NM_000090.4(COL3A1):c.3202-17G>T
|
|
|
|
NM_000090.4(COL3A1):c.3202-20A>G
|
|
|
|
NM_000090.4(COL3A1):c.3202-20A>T
|
rs1688597270
|
|
|
NM_000090.4(COL3A1):c.3202-2A>G
|
rs587779682
|
|
|
NM_000090.4(COL3A1):c.3202-5C>T
|
rs1417576506
|
|
|
NM_000090.4(COL3A1):c.3202-7A>G
|
rs201091810
|
|
|
NM_000090.4(COL3A1):c.3202-9dup
|
|
|
|
NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys)
|
rs1559061954
|
|
|
NM_000090.4(COL3A1):c.3203G>A (p.Gly1068Asp)
|
|
|
|
NM_000090.4(COL3A1):c.3203G>T (p.Gly1068Val)
|
rs587779551
|
|
|
NM_000090.4(COL3A1):c.3204CCCTGCTGG[1] (p.1069PAG[1])
|
rs771791598
|
|
|
NM_000090.4(COL3A1):c.3204CCCTGCTGG[3] (p.1069PAG[3])
|
rs771791598
|
|
|
NM_000090.4(COL3A1):c.3205C>T (p.Pro1069Ser)
|
rs200122671
|
|
|
NM_000090.4(COL3A1):c.3207T>G (p.Pro1069=)
|
rs774148328
|
|
|
NM_000090.4(COL3A1):c.3209C>G (p.Ala1070Gly)
|
|
|
|
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val)
|
rs587779709
|
|
|
NM_000090.4(COL3A1):c.3214C>T (p.Pro1072Ser)
|
rs1688598580
|
|
|
NM_000090.4(COL3A1):c.321C>T (p.Pro107=)
|
|
|
|
NM_000090.4(COL3A1):c.3220G>A (p.Gly1074Ser)
|
rs587779554
|
|
|
NM_000090.4(COL3A1):c.3221G>A (p.Gly1074Asp)
|
rs2153503790
|
|
|
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=)
|
rs1060503873
|
|
|
NM_000090.4(COL3A1):c.3223_3240del (p.Ala1075_Gly1080del)
|
rs587779509
|
|
|
NM_000090.4(COL3A1):c.3227C>G (p.Pro1076Arg)
|
|
|
|
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser)
|
rs886038892
|
|
|
NM_000090.4(COL3A1):c.322A>G (p.Lys108Glu)
|
|
|
|
NM_000090.4(COL3A1):c.3230G>T (p.Gly1077Val)
|
rs121912915
|
|
|
NM_000090.4(COL3A1):c.3239G>A (p.Gly1080Asp)
|
rs587779469
|
|
|
NM_000090.4(COL3A1):c.3244C>T (p.Arg1082Ter)
|
|
|
|
NM_000090.4(COL3A1):c.324G>A (p.Lys108=)
|
rs2153501420
|
|
|
NM_000090.4(COL3A1):c.3255+18T>G
|
|
|
|
NM_000090.4(COL3A1):c.3255+19dup
|
rs1246347975
|
|
|
NM_000090.4(COL3A1):c.3255+1G>A
|
rs587779480
|
|
|
NM_000090.4(COL3A1):c.3255+1G>C
|
rs587779480
|
|
|
NM_000090.4(COL3A1):c.3255+20G>T
|
|
|
|
NM_000090.4(COL3A1):c.3255+4del
|
|
|
|
NM_000090.4(COL3A1):c.3255+5G>A
|
rs587779501
|
|
|
NM_000090.4(COL3A1):c.3255+9T>A
|
rs2153503798
|
|
|
NM_000090.4(COL3A1):c.3256-17A>G
|
|
|
|
NM_000090.4(COL3A1):c.3256-1G>A
|
rs1688619749
|
|
|
NM_000090.4(COL3A1):c.3256-43T>G
|
rs587779667
|
|
|
NM_000090.4(COL3A1):c.3256-44A>G
|
|
|
|
NM_000090.4(COL3A1):c.3256-6C>T
|
|
|
|
NM_000090.4(COL3A1):c.3256-8T>C
|
rs2153503883
|
|
|
NM_000090.4(COL3A1):c.3257G>T (p.Gly1086Val)
|
rs1060500203
|
|
|
NM_000090.4(COL3A1):c.3259C>T (p.Pro1087Ser)
|
rs1688619897
|
|
|
NM_000090.4(COL3A1):c.3260C>T (p.Pro1087Leu)
|
rs576166457
|
|
|
NM_000090.4(COL3A1):c.3262C>T (p.Gln1088Ter)
|
rs1328301317
|
|
|
NM_000090.4(COL3A1):c.3266G>A (p.Gly1089Asp)
|
rs587779672
|
|
|
NM_000090.4(COL3A1):c.3266G>T (p.Gly1089Val)
|
rs587779672
|
|
|
NM_000090.4(COL3A1):c.3272G>A (p.Arg1091His)
|
|
|
|
NM_000090.4(COL3A1):c.3274G>T (p.Gly1092Cys)
|
rs2153503888
|
|
|
NM_000090.4(COL3A1):c.3275G>T (p.Gly1092Val)
|
rs587779666
|
|
|
NM_000090.4(COL3A1):c.3276T>C (p.Gly1092=)
|
rs2153503890
|
|
|
NM_000090.4(COL3A1):c.3277G>A (p.Asp1093Asn)
|
rs2153503891
|
|
|
NM_000090.4(COL3A1):c.3284G>A (p.Gly1095Asp)
|
rs587779610
|
|
|
NM_000090.4(COL3A1):c.3284G>T (p.Gly1095Val)
|
rs587779610
|
|
|
NM_000090.4(COL3A1):c.3290C>G (p.Thr1097Arg)
|
rs1224538144
|
|
|
NM_000090.4(COL3A1):c.3290_3291del (p.Thr1097fs)
|
rs2153503895
|
|
|
NM_000090.4(COL3A1):c.3291A>G (p.Thr1097=)
|
|
|
|
NM_000090.4(COL3A1):c.3292G>C (p.Gly1098Arg)
|
rs2153503896
|
|
|
NM_000090.4(COL3A1):c.3293G>T (p.Gly1098Val)
|
rs587779614
|
|
|
NM_000090.4(COL3A1):c.3301G>A (p.Gly1101Arg)
|
rs587779439
|
|
|
NM_000090.4(COL3A1):c.3302G>A (p.Gly1101Glu)
|
rs121912924
|
|
|
NM_000090.4(COL3A1):c.3312C>T (p.Gly1104=)
|
rs752919642
|
|
|
NM_000090.4(COL3A1):c.3313A>G (p.Ile1105Val)
|
|
|
|
NM_000090.4(COL3A1):c.3314T>G (p.Ile1105Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3319G>A (p.Gly1107Arg)
|
rs587779561
|
|
|
NM_000090.4(COL3A1):c.331C>A (p.Pro111Thr)
|
|
|
|
NM_000090.4(COL3A1):c.331C>T (p.Pro111Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3320G>C (p.Gly1107Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3323A>G (p.His1108Arg)
|
rs1688621770
|
|
|
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)
|
rs112371422
|
|
|
NM_000090.4(COL3A1):c.333+14C>T
|
|
|
|
NM_000090.4(COL3A1):c.333+4A>G
|
rs1688041454
|
|
|
NM_000090.4(COL3A1):c.3333C>A (p.Phe1111Leu)
|
rs1376067428
|
|
|
NM_000090.4(COL3A1):c.3338G>A (p.Gly1113Asp)
|
|
|
|
NM_000090.4(COL3A1):c.334-2A>G
|
rs1553506938
|
|
|
NM_000090.4(COL3A1):c.334-3T>C
|
rs2153501467
|
|
|
NM_000090.4(COL3A1):c.3347G>T (p.Gly1116Val)
|
rs587779445
|
|
|
NM_000090.4(COL3A1):c.3349G>T (p.Ala1117Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3353C>T (p.Pro1118Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3356G>A (p.Gly1119Asp)
|
rs587779639
|
|
|
NM_000090.4(COL3A1):c.335G>A (p.Gly112Asp)
|
|
|
|
NM_000090.4(COL3A1):c.3361C>G (p.Pro1121Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3363+12C>T
|
|
|
|
NM_000090.4(COL3A1):c.3363+18G>C
|
|
|
|
NM_000090.4(COL3A1):c.3364-12C>T
|
|
|
|
NM_000090.4(COL3A1):c.3364-16C>T
|
|
|
|
NM_000090.4(COL3A1):c.3364-20T>C
|
|
|
|
NM_000090.4(COL3A1):c.3364-2A>C
|
rs587779546
|
|
|
NM_000090.4(COL3A1):c.3364-4C>G
|
|
|
|
NM_000090.4(COL3A1):c.3364-6T>C
|
|
|
|
NM_000090.4(COL3A1):c.3364-8C>G
|
|
|
|
NM_000090.4(COL3A1):c.3364-9T>G
|
rs2153503942
|
|
|
NM_000090.4(COL3A1):c.3364G>A (p.Gly1122Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3367C>G (p.Pro1123Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3370G>T (p.Ala1124Ser)
|
rs1688630479
|
|
|
NM_000090.4(COL3A1):c.3375T>C (p.Gly1125=)
|
rs1355734194
|
|
|
NM_000090.4(COL3A1):c.3381G>T (p.Gln1127His)
|
|
|
|
NM_000090.4(COL3A1):c.3383G>T (p.Gly1128Val)
|
rs2153503949
|
|
|
NM_000090.4(COL3A1):c.338C>T (p.Pro113Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3390C>A (p.Ile1130=)
|
rs148918486
|
|
|
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser)
|
rs587779536
|
|
|
NM_000090.4(COL3A1):c.3392G>T (p.Gly1131Val)
|
|
|
|
NM_000090.4(COL3A1):c.3403C>A (p.Pro1135Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3407C>T (p.Ala1136Val)
|
rs1688631496
|
|
|
NM_000090.4(COL3A1):c.3410G>A (p.Gly1137Asp)
|
rs587779720
|
|
|
NM_000090.4(COL3A1):c.3411C>A (p.Gly1137=)
|
|
|
|
NM_000090.4(COL3A1):c.3412C>T (p.Pro1138Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3417+17G>C
|
|
|
|
NM_000090.4(COL3A1):c.3417+18A>G
|
|
|
|
NM_000090.4(COL3A1):c.3417+1G>A
|
rs587779444
|
|
|
NM_000090.4(COL3A1):c.3417+1G>C
|
rs587779444
|
|
|
NM_000090.4(COL3A1):c.3417+1G>T
|
rs587779444
|
|
|
NM_000090.4(COL3A1):c.3417+2T>C
|
|
|
|
NM_000090.4(COL3A1):c.3417+4A>G
|
|
|
|
NM_000090.4(COL3A1):c.3417+4_3417+5del
|
rs1553509630
|
|
|
NM_000090.4(COL3A1):c.3417+5G>A
|
rs587779448
|
|
|
NM_000090.4(COL3A1):c.3417+7A>G
|
|
|
|
NM_000090.4(COL3A1):c.3417+9C>A
|
|
|
|
NM_000090.4(COL3A1):c.3418-19T>C
|
|
|
|
NM_000090.4(COL3A1):c.3418-1G>T
|
rs587779562
|
|
|
NM_000090.4(COL3A1):c.3418-2A>G
|
rs587779502
|
|
|
NM_000090.4(COL3A1):c.3418-2A>T
|
rs587779502
|
|
|
NM_000090.4(COL3A1):c.3418-4T>C
|
rs1688634628
|
|
|
NM_000090.4(COL3A1):c.3418-9C>T
|
rs2153503964
|
|
|
NM_000090.4(COL3A1):c.3419G>A (p.Gly1140Glu)
|
rs587779648
|
|
|
NM_000090.4(COL3A1):c.3421C>T (p.Pro1141Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3424G>A (p.Val1142Ile)
|
rs2153503966
|
|
|
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu)
|
rs587779495
|
|
|
NM_000090.4(COL3A1):c.3437del (p.Gly1146fs)
|
|
|
|
NM_000090.4(COL3A1):c.343G>T (p.Gly115Cys)
|
rs964468427
|
|
|
NM_000090.4(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del)
|
rs1576472890
|
|
|
NM_000090.4(COL3A1):c.3442C>T (p.Pro1148Ser)
|
rs1287518692
|
|
|
NM_000090.4(COL3A1):c.3446G>A (p.Gly1149Asp)
|
rs1688635593
|
|
|
NM_000090.4(COL3A1):c.3451G>A (p.Asp1151Asn)
|
rs1688635701
|
|
|
NM_000090.4(COL3A1):c.3451G>T (p.Asp1151Tyr)
|
|
|
|
NM_000090.4(COL3A1):c.3457A>C (p.Thr1153Pro)
|
|
|
|
NM_000090.4(COL3A1):c.3459C>G (p.Thr1153=)
|
rs1576472923
|
|
|
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs)
|
rs2153503975
|
|
|
NM_000090.4(COL3A1):c.3465A>G (p.Gly1155=)
|
rs2153503977
|
|
|
NM_000090.4(COL3A1):c.3469C>A (p.Pro1157Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg)
|
rs587779715
|
|
|
NM_000090.4(COL3A1):c.3473G>A (p.Gly1158Asp)
|
rs587779472
|
|
|
NM_000090.4(COL3A1):c.3474_3491dup (p.Ile1160_Pro1165dup)
|
rs1576472935
|
|
|
NM_000090.4(COL3A1):c.3476C>T (p.Pro1159Leu)
|
rs1378423439
|
|
|
NM_000090.4(COL3A1):c.3477C>A (p.Pro1159=)
|
|
|
|
NM_000090.4(COL3A1):c.3477C>T (p.Pro1159=)
|
|
|
|
NM_000090.4(COL3A1):c.347T>C (p.Ile116Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3482G>A (p.Gly1161Glu)
|
rs587779473
|
|
|
NM_000090.4(COL3A1):c.3482G>T (p.Gly1161Val)
|
rs587779473
|
|
|
NM_000090.4(COL3A1):c.3488C>T (p.Pro1163Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3490G>A (p.Gly1164Arg)
|
rs587779553
|
|
|
NM_000090.4(COL3A1):c.3490G>C (p.Gly1164Arg)
|
rs587779553
|
|
|
NM_000090.4(COL3A1):c.3490G>T (p.Gly1164Trp)
|
rs587779553
|
|
|
NM_000090.4(COL3A1):c.3491G>A (p.Gly1164Glu)
|
rs587779431
|
|
|
NM_000090.4(COL3A1):c.3491G>T (p.Gly1164Val)
|
rs587779431
|
|
|
NM_000090.4(COL3A1):c.3492G>T (p.Gly1164=)
|
rs750595642
|
|
|
NM_000090.4(COL3A1):c.3494C>T (p.Pro1165Leu)
|
rs763107572
|
|
|
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)
|
rs587779646
|
|
|
NM_000090.4(COL3A1):c.3497G>C (p.Arg1166Pro)
|
|
|
|
NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg)
|
rs587779609
|
|
|
NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys)
|
rs587779609
|
|
|
NM_000090.4(COL3A1):c.349C>A (p.Pro117Thr)
|
rs1559052973
|
|
|
NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp)
|
rs587779578
|
|
|
NM_000090.4(COL3A1):c.3500G>T (p.Gly1167Val)
|
rs587779578
|
|
|
NM_000090.4(COL3A1):c.3505A>C (p.Arg1169=)
|
rs546664098
|
|
|
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser)
|
rs587779482
|
|
|
NM_000090.4(COL3A1):c.3509G>A (p.Gly1170Asp)
|
rs587779465
|
|
|
NM_000090.4(COL3A1):c.3509G>T (p.Gly1170Val)
|
rs587779465
|
|
|
NM_000090.4(COL3A1):c.350C>T (p.Pro117Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3515G>C (p.Arg1172Thr)
|
rs1553509668
|
|
|
NM_000090.4(COL3A1):c.3516A>G (p.Arg1172=)
|
|
|
|
NM_000090.4(COL3A1):c.3517G>A (p.Gly1173Arg)
|
rs587779521
|
|
|
NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu)
|
rs121912918
|
|
|
NM_000090.4(COL3A1):c.3518G>T (p.Gly1173Val)
|
rs121912918
|
|
|
NM_000090.4(COL3A1):c.3522T>A (p.Ser1174=)
|
rs1576472993
|
|
|
NM_000090.4(COL3A1):c.3523G>A (p.Glu1175Lys)
|
rs1688638293
|
|
|
NM_000090.4(COL3A1):c.3524A>C (p.Glu1175Ala)
|
rs2153503986
|
|
|
NM_000090.4(COL3A1):c.3525+3A>C
|
rs1553509674
|
|
|
NM_000090.4(COL3A1):c.3525+5G>A
|
rs2153503988
|
|
|
NM_000090.4(COL3A1):c.3526-17T>C
|
|
|
|
NM_000090.4(COL3A1):c.3526-1G>C
|
|
|
|
NM_000090.4(COL3A1):c.3526-7A>G
|
rs2153504067
|
|
|
NM_000090.4(COL3A1):c.3527G>A (p.Gly1176Asp)
|
rs1553509726
|
|
|
NM_000090.4(COL3A1):c.3527_3528delinsAA (p.Gly1176Glu)
|
rs587779669
|
|
|
NM_000090.4(COL3A1):c.3529T>A (p.Ser1177Thr)
|
rs1006132401
|
|
|
NM_000090.4(COL3A1):c.3531C>T (p.Ser1177=)
|
rs1348518346
|
|
|
NM_000090.4(COL3A1):c.3532C>G (p.Pro1178Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3533C>A (p.Pro1178Gln)
|
rs2153504073
|
|
|
NM_000090.4(COL3A1):c.3535G>C (p.Gly1179Arg)
|
rs587779574
|
|
|
NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val)
|
rs587779627
|
|
|
NM_000090.4(COL3A1):c.3538C>T (p.His1180Tyr)
|
|
|
|
NM_000090.4(COL3A1):c.3542C>G (p.Pro1181Arg)
|
|
|
|
NM_000090.4(COL3A1):c.3544G>A (p.Gly1182Arg)
|
rs587779683
|
|
|
NM_000090.4(COL3A1):c.3545G>A (p.Gly1182Glu)
|
rs111505097
|
|
|
NM_000090.4(COL3A1):c.3545G>T (p.Gly1182Val)
|
rs111505097
|
|
|
NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp)
|
rs121912917
|
|
|
NM_000090.4(COL3A1):c.3554G>T (p.Gly1185Val)
|
rs121912917
|
|
|
NM_000090.4(COL3A1):c.3555C>A (p.Gly1185=)
|
|
|
|
NM_000090.4(COL3A1):c.3559C>T (p.Pro1187Ser)
|
rs2153504076
|
|
|
NM_000090.4(COL3A1):c.3560C>A (p.Pro1187His)
|
|
|
|
NM_000090.4(COL3A1):c.3562G>A (p.Gly1188Arg)
|
rs587779504
|
|
|
NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu)
|
rs112456072
|
|
|
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser)
|
rs1324996402
|
|
|
NM_000090.4(COL3A1):c.356G>A (p.Arg119Lys)
|
|
|
|
NM_000090.4(COL3A1):c.3570T>A (p.Pro1190=)
|
|
|
|
NM_000090.4(COL3A1):c.3572G>A (p.Gly1191Asp)
|
rs587779703
|
|
|
NM_000090.4(COL3A1):c.3575C>T (p.Ala1192Val)
|
|
|
|
NM_000090.4(COL3A1):c.3575_3576insAGGG (p.Pro1193fs)
|
rs587779712
|
|
|
NM_000090.4(COL3A1):c.3577C>T (p.Pro1193Ser)
|
rs1275851079
|
|
|
NM_000090.4(COL3A1):c.3580G>C (p.Gly1194Arg)
|
|
|
|
NM_000090.4(COL3A1):c.3581G>A (p.Gly1194Asp)
|
rs1553509744
|
|
|
NM_000090.4(COL3A1):c.3589T>A (p.Cys1197Ser)
|
rs2153504081
|
|
|
NM_000090.4(COL3A1):c.3592G>A (p.Gly1198Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3596G>T (p.Gly1199Val)
|
rs1688658772
|
|
|
NM_000090.4(COL3A1):c.3602G>T (p.Gly1201Val)
|
|
|
|
NM_000090.4(COL3A1):c.3604G>A (p.Ala1202Thr)
|
rs1270244946
|
|
|
NM_000090.4(COL3A1):c.3604G>T (p.Ala1202Ser)
|
rs1270244946
|
|
|
NM_000090.4(COL3A1):c.360T>C (p.Asn120=)
|
rs2153501472
|
|
|
NM_000090.4(COL3A1):c.3611C>T (p.Ala1204Val)
|
|
|
|
NM_000090.4(COL3A1):c.3615T>C (p.Ile1205=)
|
|
|
|
NM_000090.4(COL3A1):c.3616G>T (p.Ala1206Ser)
|
rs2153504088
|
|
|
NM_000090.4(COL3A1):c.3619G>A (p.Gly1207Arg)
|
|
|
|
NM_000090.4(COL3A1):c.3638C>T (p.Ala1213Val)
|
|
|
|
NM_000090.4(COL3A1):c.3640G>A (p.Gly1214Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3654G>A (p.Pro1218=)
|
rs35759441
|
|
|
NM_000090.4(COL3A1):c.3656A>G (p.Tyr1219Cys)
|
|
|
|
NM_000090.4(COL3A1):c.366C>A (p.Asp122Glu)
|
|
|
|
NM_000090.4(COL3A1):c.366C>T (p.Asp122=)
|
rs749038976
|
|
|
NM_000090.4(COL3A1):c.3672A>G (p.Pro1224=)
|
rs1204937173
|
|
|
NM_000090.4(COL3A1):c.3678T>C (p.Asp1226=)
|
rs1688661575
|
|
|
NM_000090.4(COL3A1):c.3683A>C (p.Lys1228Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3683A>T (p.Lys1228Ile)
|
|
|
|
NM_000090.4(COL3A1):c.368C>A (p.Pro123His)
|
|
|
|
NM_000090.4(COL3A1):c.3693C>T (p.Thr1231=)
|
rs368556405
|
|
|
NM_000090.4(COL3A1):c.3694G>C (p.Asp1232His)
|
|
|
|
NM_000090.4(COL3A1):c.3695A>G (p.Asp1232Gly)
|
|
|
|
NM_000090.4(COL3A1):c.3696T>C (p.Asp1232=)
|
rs1332611074
|
|
|
NM_000090.4(COL3A1):c.3697G>A (p.Glu1233Lys)
|
|
|
|
NM_000090.4(COL3A1):c.3697G>C (p.Glu1233Gln)
|
|
|
|
NM_000090.4(COL3A1):c.36T>G (p.Leu12=)
|
|
|
|
NM_000090.4(COL3A1):c.3702T>C (p.Ile1234=)
|
rs1576473508
|
|
|
NM_000090.4(COL3A1):c.3710C>T (p.Ser1237Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3729A>G (p.Gly1243=)
|
|
|
|
NM_000090.4(COL3A1):c.3732A>G (p.Gln1244=)
|
rs1688663238
|
|
|
NM_000090.4(COL3A1):c.3734T>C (p.Ile1245Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3737_3740del (p.Glu1246fs)
|
rs1688663336
|
|
|
NM_000090.4(COL3A1):c.3746T>C (p.Ile1249Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3748A>G (p.Ser1250Gly)
|
|
|
|
NM_000090.4(COL3A1):c.3749G>A (p.Ser1250Asn)
|
|
|
|
NM_000090.4(COL3A1):c.3752C>T (p.Pro1251Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3753T>C (p.Pro1251=)
|
|
|
|
NM_000090.4(COL3A1):c.3754G>A (p.Asp1252Asn)
|
rs1688664293
|
|
|
NM_000090.4(COL3A1):c.3756T>G (p.Asp1252Glu)
|
|
|
|
NM_000090.4(COL3A1):c.3763C>T (p.Arg1255Cys)
|
rs1576473569
|
|
|
NM_000090.4(COL3A1):c.3764G>T (p.Arg1255Leu)
|
rs368119434
|
|
|
NM_000090.4(COL3A1):c.3779del (p.Arg1260fs)
|
|
|
|
NM_000090.4(COL3A1):c.3795G>T (p.Leu1265=)
|
|
|
|
NM_000090.4(COL3A1):c.3796A>C (p.Lys1266Gln)
|
rs946156674
|
|
|
NM_000090.4(COL3A1):c.3796A>G (p.Lys1266Glu)
|
|
|
|
NM_000090.4(COL3A1):c.3800T>C (p.Phe1267Ser)
|
rs1194692141
|
|
|
NM_000090.4(COL3A1):c.3801C>G (p.Phe1267Leu)
|
rs1042884028
|
|
|
NM_000090.4(COL3A1):c.3806A>G (p.His1269Arg)
|
rs751092650
|
|
|
NM_000090.4(COL3A1):c.380G>A (p.Gly127Glu)
|
rs2153501474
|
|
|
NM_000090.4(COL3A1):c.3816C>T (p.Leu1272=)
|
rs754340753
|
|
|
NM_000090.4(COL3A1):c.3818A>T (p.Lys1273Met)
|
|
|
|
NM_000090.4(COL3A1):c.3819G>A (p.Lys1273=)
|
rs1219896056
|
|
|
NM_000090.4(COL3A1):c.3823+10G>C
|
rs2153504121
|
|
|
NM_000090.4(COL3A1):c.3823+11T>C
|
|
|
|
NM_000090.4(COL3A1):c.3823+13G>A
|
|
|
|
NM_000090.4(COL3A1):c.3823+15C>T
|
|
|
|
NM_000090.4(COL3A1):c.3823+16T>G
|
|
|
|
NM_000090.4(COL3A1):c.3823+17_3823+18del
|
rs2153504125
|
|
|
NM_000090.4(COL3A1):c.3823+1G>T
|
rs1576473641
|
|
|
NM_000090.4(COL3A1):c.3823+3A>G
|
|
|
|
NM_000090.4(COL3A1):c.3823+4T>C
|
|
|
|
NM_000090.4(COL3A1):c.3823+8T>C
|
|
|
|
NM_000090.4(COL3A1):c.3824-13T>C
|
|
|
|
NM_000090.4(COL3A1):c.3824-13dup
|
|
|
|
NM_000090.4(COL3A1):c.3824-18T>C
|
|
|
|
NM_000090.4(COL3A1):c.3824-6A>C
|
rs751180610
|
|
|
NM_000090.4(COL3A1):c.3831C>T (p.Tyr1277=)
|
|
|
|
NM_000090.4(COL3A1):c.3833G>A (p.Trp1278Ter)
|
rs1060500187
|
|
|
NM_000090.4(COL3A1):c.3836T>C (p.Val1279Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3839A>C (p.Asp1280Ala)
|
rs2153504230
|
|
|
NM_000090.4(COL3A1):c.3841C>G (p.Pro1281Ala)
|
rs759132286
|
|
|
NM_000090.4(COL3A1):c.3847C>T (p.Gln1283Ter)
|
rs587779467
|
|
|
NM_000090.4(COL3A1):c.3850G>A (p.Gly1284Arg)
|
|
|
|
NM_000090.4(COL3A1):c.3852A>T (p.Gly1284=)
|
|
|
|
NM_000090.4(COL3A1):c.3863A>T (p.Asp1288Val)
|
rs587779658
|
|
|
NM_000090.4(COL3A1):c.3868A>C (p.Ile1290Leu)
|
rs757734757
|
|
|
NM_000090.4(COL3A1):c.3868A>G (p.Ile1290Val)
|
|
|
|
NM_000090.4(COL3A1):c.3869T>C (p.Ile1290Thr)
|
rs1688690716
|
|
|
NM_000090.4(COL3A1):c.3873G>A (p.Lys1291=)
|
rs1688690801
|
|
|
NM_000090.4(COL3A1):c.3876A>G (p.Val1292=)
|
|
|
|
NM_000090.4(COL3A1):c.387A>T (p.Pro129=)
|
|
|
|
NM_000090.4(COL3A1):c.3882T>C (p.Cys1294=)
|
rs1033051824
|
|
|
NM_000090.4(COL3A1):c.3885T>A (p.Asn1295Lys)
|
|
|
|
NM_000090.4(COL3A1):c.3885T>C (p.Asn1295=)
|
|
|
|
NM_000090.4(COL3A1):c.3885T>G (p.Asn1295Lys)
|
|
|
|
NM_000090.4(COL3A1):c.3887T>C (p.Met1296Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3890A>C (p.Glu1297Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3893C>A (p.Thr1298Asn)
|
|
|
|
NM_000090.4(COL3A1):c.3907A>T (p.Ile1303Leu)
|
|
|
|
NM_000090.4(COL3A1):c.390G>T (p.Gly130=)
|
rs771480377
|
|
|
NM_000090.4(COL3A1):c.3911G>C (p.Ser1304Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3913G>T (p.Ala1305Ser)
|
rs1688691968
|
|
|
NM_000090.4(COL3A1):c.3914C>G (p.Ala1305Gly)
|
rs1060500197
|
|
|
NM_000090.4(COL3A1):c.3917A>G (p.Asn1306Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3922T>C (p.Leu1308=)
|
|
|
|
NM_000090.4(COL3A1):c.3926A>G (p.Asn1309Ser)
|
rs1060500201
|
|
|
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu)
|
rs886038983
|
|
|
NM_000090.4(COL3A1):c.393C>T (p.Ser131=)
|
rs1688052638
|
|
|
NM_000090.4(COL3A1):c.3957T>C (p.Ser1319=)
|
|
|
|
NM_000090.4(COL3A1):c.3966G>A (p.Glu1322=)
|
rs560861999
|
|
|
NM_000090.4(COL3A1):c.3966del (p.Lys1323fs)
|
rs587779490
|
|
|
NM_000090.4(COL3A1):c.3969G>C (p.Lys1323Asn)
|
rs2153504249
|
|
|
NM_000090.4(COL3A1):c.396del (p.Gly133fs)
|
|
|
|
NM_000090.4(COL3A1):c.3971A>G (p.Lys1324Arg)
|
rs2153504251
|
|
|
NM_000090.4(COL3A1):c.3984T>C (p.Phe1328=)
|
rs749456336
|
|
|
NM_000090.4(COL3A1):c.3985G>C (p.Gly1329Arg)
|
|
|
|
NM_000090.4(COL3A1):c.3989del (p.Glu1330fs)
|
rs587779647
|
|
|
NM_000090.4(COL3A1):c.3992C>A (p.Ser1331Tyr)
|
rs1688694132
|
|
|
NM_000090.4(COL3A1):c.3994A>G (p.Met1332Val)
|
|
|
|
NM_000090.4(COL3A1):c.3998A>G (p.Asp1333Gly)
|
rs376651720
|
|
|
NM_000090.4(COL3A1):c.399T>G (p.Gly133=)
|
|
|
|
NM_000090.4(COL3A1):c.39C>G (p.Leu13=)
|
rs1343634872
|
|
|
NM_000090.4(COL3A1):c.4001G>T (p.Gly1334Val)
|
|
|
|
NM_000090.4(COL3A1):c.4007T>G (p.Phe1336Cys)
|
|
|
|
NM_000090.4(COL3A1):c.4008dup (p.Gln1337fs)
|
|
|
|
NM_000090.4(COL3A1):c.4011+16C>A
|
|
|
|
NM_000090.4(COL3A1):c.4011+17del
|
|
|
|
NM_000090.4(COL3A1):c.4011+1G>A
|
|
|
|
NM_000090.4(COL3A1):c.4011+1G>T
|
rs112532745
|
|
|
NM_000090.4(COL3A1):c.4011G>T (p.Gln1337His)
|
|
|
|
NM_000090.4(COL3A1):c.4012-10C>G
|
|
|
|
NM_000090.4(COL3A1):c.4012-11C>A
|
|
|
|
NM_000090.4(COL3A1):c.4012-2A>G
|
rs1559063681
|
|
|
NM_000090.4(COL3A1):c.4015A>G (p.Ser1339Gly)
|
|
|
|
NM_000090.4(COL3A1):c.4017C>G (p.Ser1339Arg)
|
|
|
|
NM_000090.4(COL3A1):c.401C>T (p.Ser134Phe)
|
|
|
|
NM_000090.4(COL3A1):c.4023C>T (p.Gly1341=)
|
|
|
|
NM_000090.4(COL3A1):c.402T>G (p.Ser134=)
|
rs2153501486
|
|
|
NM_000090.4(COL3A1):c.4041A>C (p.Glu1347Asp)
|
|
|
|
NM_000090.4(COL3A1):c.4043A>G (p.Asp1348Gly)
|
rs1688703417
|
|
|
NM_000090.4(COL3A1):c.4046T>G (p.Val1349Gly)
|
|
|
|
NM_000090.4(COL3A1):c.4047C>T (p.Val1349=)
|
|
|
|
NM_000090.4(COL3A1):c.4053T>C (p.Asp1351=)
|
rs1016578152
|
|
|
NM_000090.4(COL3A1):c.4065A>G (p.Ala1355=)
|
rs778893289
|
|
|
NM_000090.4(COL3A1):c.4066T>G (p.Phe1356Val)
|
rs945183835
|
|
|
NM_000090.4(COL3A1):c.406G>C (p.Gly136Arg)
|
rs387906557
|
|
|
NM_000090.4(COL3A1):c.4071T>G (p.Leu1357=)
|
rs1576474355
|
|
|
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter)
|
rs794728057
|
|
|
NM_000090.4(COL3A1):c.4076T>A (p.Leu1359His)
|
|
|
|
NM_000090.4(COL3A1):c.4078C>A (p.Leu1360Ile)
|
|
|
|
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)
|
rs794728060
|
|
|
NM_000090.4(COL3A1):c.4088G>A (p.Arg1363Gln)
|
rs1227282800
|
|
|
NM_000090.4(COL3A1):c.408C>G (p.Gly136=)
|
rs762388691
|
|
|
NM_000090.4(COL3A1):c.4096C>T (p.Gln1366Ter)
|
rs863224860
|
|
|
NM_000090.4(COL3A1):c.4097A>G (p.Gln1366Arg)
|
|
|
|
NM_000090.4(COL3A1):c.409C>A (p.Pro137Thr)
|
rs1553506950
|
|
|
NM_000090.4(COL3A1):c.409C>T (p.Pro137Ser)
|
|
|
|
NM_000090.4(COL3A1):c.40G>C (p.Ala14Pro)
|
|
|
|
NM_000090.4(COL3A1):c.4102A>G (p.Ile1368Val)
|
rs2153504325
|
|
|
NM_000090.4(COL3A1):c.4108T>C (p.Tyr1370His)
|
rs2153504327
|
|
|
NM_000090.4(COL3A1):c.412C>T (p.Pro138Ser)
|
|
|
|
NM_000090.4(COL3A1):c.4131A>C (p.Ala1377=)
|
rs560478513
|
|
|
NM_000090.4(COL3A1):c.4135A>G (p.Met1379Val)
|
rs1060500196
|
|
|
NM_000090.4(COL3A1):c.4135A>T (p.Met1379Leu)
|
rs1060500196
|
|
|
NM_000090.4(COL3A1):c.413del (p.Pro138fs)
|
rs587779707
|
|
|
NM_000090.4(COL3A1):c.413dup (p.Gly139fs)
|
rs587779707
|
|
|
NM_000090.4(COL3A1):c.4142A>G (p.Gln1381Arg)
|
rs886055334
|
|
|
NM_000090.4(COL3A1):c.4143G>T (p.Gln1381His)
|
rs1029608155
|
|
|
NM_000090.4(COL3A1):c.4148G>A (p.Ser1383Asn)
|
|
|
|
NM_000090.4(COL3A1):c.414T>C (p.Pro138=)
|
|
|
|
NM_000090.4(COL3A1):c.4151G>A (p.Gly1384Glu)
|
|
|
|
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile)
|
rs1158116878
|
|
|
NM_000090.4(COL3A1):c.4182G>A (p.Gly1394=)
|
|
|
|
NM_000090.4(COL3A1):c.4189G>A (p.Glu1397Lys)
|
rs768168922
|
|
|
NM_000090.4(COL3A1):c.4194T>C (p.Gly1398=)
|
rs1054676420
|
|
|
NM_000090.4(COL3A1):c.4204G>C (p.Ala1402Pro)
|
|
|
|
NM_000090.4(COL3A1):c.4205C>A (p.Ala1402Asp)
|
rs1688708521
|
|
|
NM_000090.4(COL3A1):c.4205C>T (p.Ala1402Val)
|
|
|
|
NM_000090.4(COL3A1):c.4224C>G (p.Phe1408Leu)
|
rs549672243
|
|
|
NM_000090.4(COL3A1):c.4226_4233del (p.Thr1409fs)
|
|
|
|
NM_000090.4(COL3A1):c.4247G>T (p.Gly1416Val)
|
|
|
|
NM_000090.4(COL3A1):c.4253C>A (p.Thr1418Lys)
|
rs1012915558
|
|
|
NM_000090.4(COL3A1):c.4254+10A>T
|
|
|
|
NM_000090.4(COL3A1):c.4254+15T>G
|
|
|
|
NM_000090.4(COL3A1):c.4254+16C>T
|
|
|
|
NM_000090.4(COL3A1):c.4254+18C>T
|
|
|
|
NM_000090.4(COL3A1):c.4254+20A>G
|
|
|
|
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=)
|
rs587779565
|
|
|
NM_000090.4(COL3A1):c.4255-10T>G
|
|
|
|
NM_000090.4(COL3A1):c.4255-11C>G
|
|
|
|
NM_000090.4(COL3A1):c.4255-13T>C
|
|
|
|
NM_000090.4(COL3A1):c.4255-16T>G
|
|
|
|
NM_000090.4(COL3A1):c.4255-18T>C
|
|
|
|
NM_000090.4(COL3A1):c.4255-1G>T
|
rs1688728266
|
|
|
NM_000090.4(COL3A1):c.4255-20C>T
|
rs1480528969
|
|
|
NM_000090.4(COL3A1):c.4255-5T>C
|
|
|
|
NM_000090.4(COL3A1):c.4255-9T>G
|
|
|
|
NM_000090.4(COL3A1):c.4257A>C (p.Lys1419Asn)
|
rs754723643
|
|
|
NM_000090.4(COL3A1):c.4266G>A (p.Gly1422=)
|
rs1553509998
|
|
|
NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter)
|
rs1553510000
|
|
|
NM_000090.4(COL3A1):c.4271G>A (p.Trp1424Ter)
|
|
|
|
NM_000090.4(COL3A1):c.4275C>A (p.Ser1425Arg)
|
rs1688728943
|
|
|
NM_000090.4(COL3A1):c.4275C>G (p.Ser1425Arg)
|
rs1688728943
|
|
|
NM_000090.4(COL3A1):c.4280C>T (p.Thr1427Ile)
|
|
|
|
NM_000090.4(COL3A1):c.4283T>C (p.Val1428Ala)
|
|
|
|
NM_000090.4(COL3A1):c.4286_4287del (p.Val1428_Phe1429insTer)
|
rs587779719
|
|
|
NM_000090.4(COL3A1):c.4290A>C (p.Glu1430Asp)
|
|
|
|
NM_000090.4(COL3A1):c.4294C>T (p.Arg1432Ter)
|
rs587779585
|
|
|
NM_000090.4(COL3A1):c.4295G>A (p.Arg1432Gln)
|
rs772428340
|
|
|
NM_000090.4(COL3A1):c.4298C>T (p.Thr1433Ile)
|
|
|
|
NM_000090.4(COL3A1):c.4303A>G (p.Lys1435Glu)
|
rs2153504447
|
|
|
NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro)
|
rs148015311
|
|
|
NM_000090.4(COL3A1):c.4311G>C (p.Val1437=)
|
rs1688730215
|
|
|
NM_000090.4(COL3A1):c.4319C>T (p.Pro1440Leu)
|
rs1553510005
|
|
|
NM_000090.4(COL3A1):c.4321A>G (p.Ile1441Val)
|
|
|
|
NM_000090.4(COL3A1):c.4323_4326del (p.Ile1441fs)
|
rs2153504449
|
|
|
NM_000090.4(COL3A1):c.4323dup (p.Val1442fs)
|
rs1688730568
|
|
|
NM_000090.4(COL3A1):c.4327G>A (p.Asp1443Asn)
|
rs1553510008
|
|
|
NM_000090.4(COL3A1):c.4332T>C (p.Ile1444=)
|
rs1285255181
|
|
|
NM_000090.4(COL3A1):c.4334C>A (p.Ala1445Glu)
|
|
|
|
NM_000090.4(COL3A1):c.4351G>C (p.Gly1451Arg)
|
rs1688731786
|
|
|
NM_000090.4(COL3A1):c.4353T>C (p.Gly1451=)
|
rs112729086
|
|
|
NM_000090.4(COL3A1):c.435T>A (p.Pro145=)
|
rs1060503875
|
|
|
NM_000090.4(COL3A1):c.4360C>T (p.Gln1454Ter)
|
rs1576474929
|
|
|
NM_000090.4(COL3A1):c.4365A>G (p.Glu1455=)
|
rs1688732280
|
|
|
NM_000090.4(COL3A1):c.4367T>C (p.Phe1456Ser)
|
|
|
|
NM_000090.4(COL3A1):c.4368T>A (p.Phe1456Leu)
|
rs1688732322
|
|
|
NM_000090.4(COL3A1):c.436A>G (p.Thr146Ala)
|
|
|
|
NM_000090.4(COL3A1):c.4370G>A (p.Gly1457Asp)
|
rs1688732362
|
|
|
NM_000090.4(COL3A1):c.4373T>G (p.Val1458Gly)
|
|
|
|
NM_000090.4(COL3A1):c.4374G>A (p.Val1458=)
|
|
|
|
NM_000090.4(COL3A1):c.4377C>T (p.Asp1459=)
|
rs754741078
|
|
|
NM_000090.4(COL3A1):c.4382G>T (p.Gly1461Val)
|
rs1576474944
|
|
|
NM_000090.4(COL3A1):c.4384C>A (p.Pro1462Thr)
|
rs1688732943
|
|
|
NM_000090.4(COL3A1):c.4392C>T (p.Cys1464=)
|
|
|
|
NM_000090.4(COL3A1):c.4394T>C (p.Phe1465Ser)
|
rs1553510018
|
|
|
NM_000090.4(COL3A1):c.4396T>C (p.Leu1466=)
|
|
|
|
NM_000090.4(COL3A1):c.4399T>C (p.Ter1467Gln)
|
rs587779618
|
|
|
NM_000090.4(COL3A1):c.43C>G (p.Leu15Val)
|
|
|
|
NM_000090.4(COL3A1):c.443C>T (p.Pro148Leu)
|
|
|
|
NM_000090.4(COL3A1):c.446A>T (p.Gln149Leu)
|
|
|
|
NM_000090.4(COL3A1):c.447+12dup
|
|
|
|
NM_000090.4(COL3A1):c.447+14G>A
|
|
|
|
NM_000090.4(COL3A1):c.447+7C>A
|
|
|
|
NM_000090.4(COL3A1):c.447G>A (p.Gln149=)
|
|
|
|
NM_000090.4(COL3A1):c.448-11C>T
|
rs766622043
|
|
|
NM_000090.4(COL3A1):c.448-17T>C
|
|
|
|
NM_000090.4(COL3A1):c.448-1G>T
|
rs1688078187
|
|
|
NM_000090.4(COL3A1):c.448-6C>T
|
|
|
|
NM_000090.4(COL3A1):c.458C>G (p.Pro153Arg)
|
|
|
|
NM_000090.4(COL3A1):c.469T>A (p.Ser157Thr)
|
rs1576461726
|
|
|
NM_000090.4(COL3A1):c.473A>G (p.Tyr158Cys)
|
rs2153501637
|
|
|
NM_000090.4(COL3A1):c.477T>C (p.Asp159=)
|
|
|
|
NM_000090.4(COL3A1):c.485C>G (p.Ser162Cys)
|
|
|
|
NM_000090.4(COL3A1):c.488G>T (p.Gly163Val)
|
|
|
|
NM_000090.4(COL3A1):c.494C>A (p.Ala165Glu)
|
|
|
|
NM_000090.4(COL3A1):c.495A>G (p.Ala165=)
|
rs2153501641
|
|
|
NM_000090.4(COL3A1):c.496G>C (p.Val166Leu)
|
|
|
|
NM_000090.4(COL3A1):c.498A>T (p.Val166=)
|
|
|
|
NM_000090.4(COL3A1):c.499GGA[1] (p.Gly168del)
|
rs1688079577
|
|
|
NM_000090.4(COL3A1):c.4del (p.Met1_Met2insTer)
|
|
|
|
NM_000090.4(COL3A1):c.500dup (p.Gly168fs)
|
|
|
|
NM_000090.4(COL3A1):c.507C>A (p.Leu169=)
|
|
|
|
NM_000090.4(COL3A1):c.507C>G (p.Leu169=)
|
rs142437505
|
|
|
NM_000090.4(COL3A1):c.508G>T (p.Ala170Ser)
|
|
|
|
NM_000090.4(COL3A1):c.511G>A (p.Gly171Ser)
|
rs2153501643
|
|
|
NM_000090.4(COL3A1):c.515A>G (p.Tyr172Cys)
|
|
|
|
NM_000090.4(COL3A1):c.517C>G (p.Pro173Ala)
|
|
|
|
NM_000090.4(COL3A1):c.526G>T (p.Ala176Ser)
|
|
|
|
NM_000090.4(COL3A1):c.528+5G>A
|
rs794728038
|
|
|
NM_000090.4(COL3A1):c.529-5T>G
|
rs886055329
|
|
|
NM_000090.4(COL3A1):c.529-8C>T
|
|
|
|
NM_000090.4(COL3A1):c.529-8del
|
|
|
|
NM_000090.4(COL3A1):c.529G>A (p.Gly177Ser)
|
|
|
|
NM_000090.4(COL3A1):c.530G>C (p.Gly177Ala)
|
rs2153501733
|
|
|
NM_000090.4(COL3A1):c.530G>T (p.Gly177Val)
|
rs2153501733
|
|
|
NM_000090.4(COL3A1):c.531C>T (p.Gly177=)
|
rs41272797
|
|
|
NM_000090.4(COL3A1):c.532C>T (p.Pro178Ser)
|
|
|
|
NM_000090.4(COL3A1):c.539G>A (p.Gly180Asp)
|
rs587779714
|
|
|
NM_000090.4(COL3A1):c.53C>G (p.Pro18Arg)
|
|
|
|
NM_000090.4(COL3A1):c.542C>T (p.Pro181Leu)
|
rs746628029
|
|
|
NM_000090.4(COL3A1):c.546C>A (p.Pro182=)
|
rs754584062
|
|
|
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)
|
rs121912926
|
|
|
NM_000090.4(COL3A1):c.547G>C (p.Gly183Arg)
|
rs121912926
|
|
|
NM_000090.4(COL3A1):c.547G>T (p.Gly183Cys)
|
rs121912926
|
|
|
NM_000090.4(COL3A1):c.548G>A (p.Gly183Asp)
|
rs587779420
|
|
|
NM_000090.4(COL3A1):c.548G>C (p.Gly183Ala)
|
rs587779420
|
|
|
NM_000090.4(COL3A1):c.548G>T (p.Gly183Val)
|
rs587779420
|
|
|
NM_000090.4(COL3A1):c.552C>T (p.Pro184=)
|
rs1057521290
|
|
|
NM_000090.4(COL3A1):c.553C>G (p.Pro185Ala)
|
rs1688100904
|
|
|
NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg)
|
rs886038977
|
|
|
NM_000090.4(COL3A1):c.555T>C (p.Pro185=)
|
|
|
|
NM_000090.4(COL3A1):c.555del (p.Gly186fs)
|
rs587779451
|
|
|
NM_000090.4(COL3A1):c.556G>A (p.Gly186Ser)
|
rs587779446
|
|
|
NM_000090.4(COL3A1):c.55A>C (p.Thr19Pro)
|
|
|
|
NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala)
|
rs1300339107
|
|
|
NM_000090.4(COL3A1):c.55A>T (p.Thr19Ser)
|
|
|
|
NM_000090.4(COL3A1):c.565G>C (p.Gly189Arg)
|
rs587779507
|
|
|
NM_000090.4(COL3A1):c.568C>T (p.His190Tyr)
|
|
|
|
NM_000090.4(COL3A1):c.569A>C (p.His190Pro)
|
|
|
|
NM_000090.4(COL3A1):c.570T>C (p.His190=)
|
rs2153501742
|
|
|
NM_000090.4(COL3A1):c.570del (p.Pro191fs)
|
|
|
|
NM_000090.4(COL3A1):c.575G>T (p.Gly192Val)
|
rs587779710
|
|
|
NM_000090.4(COL3A1):c.582+10G>A
|
rs1553507200
|
|
|
NM_000090.4(COL3A1):c.582+14T>C
|
|
|
|
NM_000090.4(COL3A1):c.582+19G>A
|
|
|
|
NM_000090.4(COL3A1):c.582+1G>C
|
rs587779508
|
|
|
NM_000090.4(COL3A1):c.582+20G>A
|
|
|
|
NM_000090.4(COL3A1):c.582+2dup
|
rs587779524
|
|
|
NM_000090.4(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC
|
|
|
|
NM_000090.4(COL3A1):c.582+5G>A
|
rs587779671
|
|
|
NM_000090.4(COL3A1):c.582+5G>T
|
rs587779671
|
|
|
NM_000090.4(COL3A1):c.582+5_582+11delinsACA
|
rs1559053784
|
|
|
NM_000090.4(COL3A1):c.582+6T>A
|
rs397509375
|
|
|
NM_000090.4(COL3A1):c.582+6T>C
|
rs397509375
|
|
|
NM_000090.4(COL3A1):c.582+6dup
|
|
|
|
NM_000090.4(COL3A1):c.583-11C>T
|
|
|
|
NM_000090.4(COL3A1):c.583-14A>T
|
|
|
|
NM_000090.4(COL3A1):c.583-16A>C
|
|
|
|
NM_000090.4(COL3A1):c.583-4C>G
|
|
|
|
NM_000090.4(COL3A1):c.583-4C>T
|
|
|
|
NM_000090.4(COL3A1):c.583-6C>A
|
|
|
|
NM_000090.4(COL3A1):c.583-7T>C
|
rs886055330
|
|
|
NM_000090.4(COL3A1):c.583G>A (p.Gly195Arg)
|
rs267599120
|
|
|
NM_000090.4(COL3A1):c.583G>C (p.Gly195Arg)
|
rs267599120
|
|
|
NM_000090.4(COL3A1):c.58A>G (p.Ile20Val)
|
rs1342128671
|
|
|
NM_000090.4(COL3A1):c.590C>A (p.Pro197Gln)
|
|
|
|
NM_000090.4(COL3A1):c.592G>A (p.Gly198Arg)
|
rs587779601
|
|
|
NM_000090.4(COL3A1):c.593G>A (p.Gly198Glu)
|
rs587779641
|
|
|
NM_000090.4(COL3A1):c.598C>A (p.Gln200Lys)
|
|
|
|
NM_000090.4(COL3A1):c.601G>C (p.Gly201Arg)
|
rs587779436
|
|
|
NM_000090.4(COL3A1):c.608del (p.Pro203fs)
|
rs1553507265
|
|
|
NM_000090.4(COL3A1):c.609del (p.Gly204fs)
|
|
|
|
NM_000090.4(COL3A1):c.610G>A (p.Gly204Ser)
|
rs587779711
|
|
|
NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp)
|
rs587779626
|
|
|
NM_000090.4(COL3A1):c.615_629dup (p.Gly207_Pro211dup)
|
rs587779628
|
|
|
NM_000090.4(COL3A1):c.616C>T (p.Pro206Ser)
|
rs1688112134
|
|
|
NM_000090.4(COL3A1):c.619G>A (p.Gly207Arg)
|
|
|
|
NM_000090.4(COL3A1):c.619G>T (p.Gly207Trp)
|
rs1553507274
|
|
|
NM_000090.4(COL3A1):c.620G>T (p.Gly207Val)
|
rs587779592
|
|
|
NM_000090.4(COL3A1):c.624A>G (p.Gln208=)
|
rs527415370
|
|
|
NM_000090.4(COL3A1):c.625G>A (p.Ala209Thr)
|
rs1688112510
|
|
|
NM_000090.4(COL3A1):c.627T>A (p.Ala209=)
|
|
|
|
NM_000090.4(COL3A1):c.629G>T (p.Gly210Val)
|
rs587779515
|
|
|
NM_000090.4(COL3A1):c.62T>A (p.Ile21Asn)
|
|
|
|
NM_000090.4(COL3A1):c.630T>A (p.Gly210=)
|
|
|
|
NM_000090.4(COL3A1):c.631_636+6delinsTACTAAATATA
|
rs587779681
|
|
|
NM_000090.4(COL3A1):c.636+11A>G
|
|
|
|
NM_000090.4(COL3A1):c.636+12T>C
|
|
|
|
NM_000090.4(COL3A1):c.636+12_636+15del
|
|
|
|
NM_000090.4(COL3A1):c.636+17T>A
|
|
|
|
NM_000090.4(COL3A1):c.636+1G>A
|
rs587779676
|
|
|
NM_000090.4(COL3A1):c.636+5G>A
|
rs587779688
|
|
|
NM_000090.4(COL3A1):c.636A>G (p.Ser212=)
|
|
|
|
NM_000090.4(COL3A1):c.637-12C>T
|
|
|
|
NM_000090.4(COL3A1):c.637-13T>C
|
|
|
|
NM_000090.4(COL3A1):c.637G>A (p.Gly213Ser)
|
rs587779557
|
|
|
NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp)
|
rs2153501864
|
|
|
NM_000090.4(COL3A1):c.639C>A (p.Gly213=)
|
rs2153501865
|
|
|
NM_000090.4(COL3A1):c.641C>T (p.Pro214Leu)
|
|
|
|
NM_000090.4(COL3A1):c.644C>G (p.Pro215Arg)
|
|
|
|
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu)
|
rs587779596
|
|
|
NM_000090.4(COL3A1):c.648_665del (p.Pro218_Pro223del)
|
rs2153501869
|
|
|
NM_000090.4(COL3A1):c.650_1663-83del
|
|
|
|
NM_000090.4(COL3A1):c.655G>T (p.Gly219Cys)
|
rs587779624
|
|
|
NM_000090.4(COL3A1):c.656G>A (p.Gly219Asp)
|
rs587779441
|
|
|
NM_000090.4(COL3A1):c.656G>C (p.Gly219Ala)
|
rs587779441
|
|
|
NM_000090.4(COL3A1):c.658G>A (p.Ala220Thr)
|
|
|
|
NM_000090.4(COL3A1):c.661A>G (p.Ile221Val)
|
|
|
|
NM_000090.4(COL3A1):c.662T>C (p.Ile221Thr)
|
|
|
|
NM_000090.4(COL3A1):c.662_663dup (p.Gly222Ter)
|
|
|
|
NM_000090.4(COL3A1):c.665G>A (p.Gly222Asp)
|
rs587779518
|
|
|
NM_000090.4(COL3A1):c.665G>T (p.Gly222Val)
|
rs587779518
|
|
|
NM_000090.4(COL3A1):c.667C>G (p.Pro223Ala)
|
rs1325737333
|
|
|
NM_000090.4(COL3A1):c.670T>C (p.Ser224Pro)
|
|
|
|
NM_000090.4(COL3A1):c.674G>A (p.Gly225Asp)
|
rs587779533
|
|
|
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala)
|
rs587779533
|
|
|
NM_000090.4(COL3A1):c.674G>T (p.Gly225Val)
|
rs587779533
|
|
|
NM_000090.4(COL3A1):c.676C>T (p.Pro226Ser)
|
|
|
|
NM_000090.4(COL3A1):c.677C>T (p.Pro226Leu)
|
|
|
|
NM_000090.4(COL3A1):c.678T>C (p.Pro226=)
|
|
|
|
NM_000090.4(COL3A1):c.682G>C (p.Gly228Arg)
|
rs587779470
|
|
|
NM_000090.4(COL3A1):c.683G>A (p.Gly228Glu)
|
rs587779555
|
|
|
NM_000090.4(COL3A1):c.687A>T (p.Lys229Asn)
|
|
|
|
NM_000090.4(COL3A1):c.690+11A>G
|
|
|
|
NM_000090.4(COL3A1):c.690+12A>G
|
|
|
|
NM_000090.4(COL3A1):c.690+1G>A
|
rs587779660
|
|
|
NM_000090.4(COL3A1):c.690+2T>A
|
rs587779497
|
|
|
NM_000090.4(COL3A1):c.690+2T>G
|
rs587779497
|
|
|
NM_000090.4(COL3A1):c.690+7T>C
|
rs2153501873
|
|
|
NM_000090.4(COL3A1):c.691-13T>A
|
|
|
|
NM_000090.4(COL3A1):c.691-15T>C
|
|
|
|
NM_000090.4(COL3A1):c.691-1G>A
|
|
|
|
NM_000090.4(COL3A1):c.691-27_691-8del
|
|
|
|
NM_000090.4(COL3A1):c.691-2A>G
|
rs1576463100
|
|
|
NM_000090.4(COL3A1):c.691-4C>G
|
|
|
|
NM_000090.4(COL3A1):c.694G>A (p.Glu232Lys)
|
|
|
|
NM_000090.4(COL3A1):c.698C>G (p.Ser233Ter)
|
rs2153501942
|
|
|
NM_000090.4(COL3A1):c.701G>A (p.Gly234Asp)
|
rs587779656
|
|
|
NM_000090.4(COL3A1):c.707C>G (p.Pro236Arg)
|
rs1688155159
|
|
|
NM_000090.4(COL3A1):c.707C>T (p.Pro236Leu)
|
|
|
|
NM_000090.4(COL3A1):c.708C>G (p.Pro236=)
|
rs775390389
|
|
|
NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg)
|
rs587779625
|
|
|
NM_000090.4(COL3A1):c.711A>G (p.Gly237=)
|
rs2153501949
|
|
|
NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter)
|
rs1393544920
|
|
|
NM_000090.4(COL3A1):c.718G>C (p.Gly240Arg)
|
rs587779468
|
|
|
NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys)
|
rs1553507432
|
|
|
NM_000090.4(COL3A1):c.723G>T (p.Glu241Asp)
|
|
|
|
NM_000090.4(COL3A1):c.724C>G (p.Arg242Gly)
|
rs1333421028
|
|
|
NM_000090.4(COL3A1):c.727G>C (p.Gly243Arg)
|
|
|
|
NM_000090.4(COL3A1):c.728G>A (p.Gly243Glu)
|
rs587779629
|
|
|
NM_000090.4(COL3A1):c.728G>T (p.Gly243Val)
|
rs587779629
|
|
|
NM_000090.4(COL3A1):c.729A>G (p.Gly243=)
|
|
|
|
NM_000090.4(COL3A1):c.731T>C (p.Leu244Ser)
|
|
|
|
NM_000090.4(COL3A1):c.737G>A (p.Gly246Glu)
|
rs587779570
|
|
|
NM_000090.4(COL3A1):c.740C>T (p.Pro247Leu)
|
|
|
|
NM_000090.4(COL3A1):c.744+10C>T
|
|
|
|
NM_000090.4(COL3A1):c.744+20T>C
|
|
|
|
NM_000090.4(COL3A1):c.745-18T>G
|
|
|
|
NM_000090.4(COL3A1):c.745-3T>C
|
|
|
|
NM_000090.4(COL3A1):c.745-3T>G
|
|
|
|
NM_000090.4(COL3A1):c.745G>A (p.Gly249Ser)
|
rs2153501969
|
|
|
NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp)
|
rs121912927
|
|
|
NM_000090.4(COL3A1):c.746G>T (p.Gly249Val)
|
rs121912927
|
|
|
NM_000090.4(COL3A1):c.74A>G (p.Gln25Arg)
|
rs748787122
|
|
|
NM_000090.4(COL3A1):c.751A>G (p.Lys251Glu)
|
|
|
|
NM_000090.4(COL3A1):c.754G>A (p.Gly252Ser)
|
|
|
|
NM_000090.4(COL3A1):c.754G>C (p.Gly252Arg)
|
rs587779705
|
|
|
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys)
|
rs587779705
|
|
|
NM_000090.4(COL3A1):c.755G>A (p.Gly252Asp)
|
rs587779464
|
|
|
NM_000090.4(COL3A1):c.755G>T (p.Gly252Val)
|
rs587779464
|
|
|
NM_000090.4(COL3A1):c.758C>G (p.Pro253Arg)
|
|
|
|
NM_000090.4(COL3A1):c.764G>A (p.Gly255Glu)
|
rs587779605
|
|
|
NM_000090.4(COL3A1):c.764G>T (p.Gly255Val)
|
rs587779605
|
|
|
NM_000090.4(COL3A1):c.766del (p.Ile256fs)
|
rs587779455
|
|
|
NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala)
|
rs1559054653
|
|
|
NM_000090.4(COL3A1):c.777C>G (p.Phe259Leu)
|
|
|
|
NM_000090.4(COL3A1):c.781G>C (p.Gly261Arg)
|
rs2153501976
|
|
|
NM_000090.4(COL3A1):c.782G>A (p.Gly261Asp)
|
rs587779635
|
|
|
NM_000090.4(COL3A1):c.784A>G (p.Met262Val)
|
rs1688161240
|
|
|
NM_000090.4(COL3A1):c.785_786insTTT (p.Met262delinsIleLeu)
|
|
|
|
NM_000090.4(COL3A1):c.79+16T>C
|
rs2153500033
|
|
|
NM_000090.4(COL3A1):c.79+2_79+3dup
|
rs1687768135
|
|
|
NM_000090.4(COL3A1):c.79+4A>G
|
|
|
|
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu)
|
rs587779604
|
|
|
NM_000090.4(COL3A1):c.798+14C>T
|
|
|
|
NM_000090.4(COL3A1):c.798+1G>A
|
rs587779463
|
|
|
NM_000090.4(COL3A1):c.798+4A>C
|
|
|
|
NM_000090.4(COL3A1):c.798+6T>C
|
|
|
|
NM_000090.4(COL3A1):c.798+8G>C
|
|
|
|
NM_000090.4(COL3A1):c.799-14T>C
|
|
|
|
NM_000090.4(COL3A1):c.799-6del
|
rs767927599
|
|
|
NM_000090.4(COL3A1):c.799G>A (p.Gly267Ser)
|
rs587779718
|
|
|
NM_000090.4(COL3A1):c.80-14_80-6dup
|
|
|
|
NM_000090.4(COL3A1):c.80-18A>T
|
rs1483636821
|
|
|
NM_000090.4(COL3A1):c.80-1G>C
|
rs1559052551
|
|
|
NM_000090.4(COL3A1):c.80-2A>T
|
rs2153501340
|
|
|
NM_000090.4(COL3A1):c.80-3C>T
|
|
|
|
NM_000090.4(COL3A1):c.80-9G>C
|
|
|
|
NM_000090.4(COL3A1):c.800G>T (p.Gly267Val)
|
rs587779427
|
|
|
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu)
|
rs587779478
|
|
|
NM_000090.4(COL3A1):c.80C>G (p.Ala27Gly)
|
|
|
|
NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter)
|
rs1057521106
|
|
|
NM_000090.4(COL3A1):c.815A>G (p.Asn272Ser)
|
|
|
|
NM_000090.4(COL3A1):c.817G>T (p.Gly273Ter)
|
rs2153502051
|
|
|
NM_000090.4(COL3A1):c.818G>A (p.Gly273Glu)
|
|
|
|
NM_000090.4(COL3A1):c.81del (p.Val28fs)
|
rs1060500200
|
|
|
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly)
|
rs1688177791
|
|
|
NM_000090.4(COL3A1):c.825G>C (p.Lys275Asn)
|
|
|
|
NM_000090.4(COL3A1):c.826G>A (p.Gly276Ser)
|
rs1576463632
|
|
|
NM_000090.4(COL3A1):c.827G>A (p.Gly276Asp)
|
rs587779644
|
|
|
NM_000090.4(COL3A1):c.827G>T (p.Gly276Val)
|
rs587779644
|
|
|
NM_000090.4(COL3A1):c.836G>A (p.Gly279Asp)
|
rs587779593
|
|
|
NM_000090.4(COL3A1):c.840T>A (p.Ala280=)
|
rs1576463659
|
|
|
NM_000090.4(COL3A1):c.841C>G (p.Pro281Ala)
|
|
|
|
NM_000090.4(COL3A1):c.842C>A (p.Pro281His)
|
rs794728039
|
|
|
NM_000090.4(COL3A1):c.844G>A (p.Gly282Arg)
|
rs587779531
|
|
|
NM_000090.4(COL3A1):c.845G>T (p.Gly282Val)
|
rs1576463663
|
|
|
NM_000090.4(COL3A1):c.852+16A>T
|
|
|
|
NM_000090.4(COL3A1):c.852+19C>A
|
|
|
|
NM_000090.4(COL3A1):c.852+1G>A
|
|
|
|
NM_000090.4(COL3A1):c.852+20A>G
|
rs1319479140
|
|
|
NM_000090.4(COL3A1):c.852+20A>T
|
|
|
|
NM_000090.4(COL3A1):c.852+3A>G
|
|
|
|
NM_000090.4(COL3A1):c.853-19A>G
|
|
|
|
NM_000090.4(COL3A1):c.862G>A (p.Gly288Ser)
|
rs1333066574
|
|
|
NM_000090.4(COL3A1):c.869C>T (p.Pro290Leu)
|
|
|
|
NM_000090.4(COL3A1):c.86_88del (p.Glu29del)
|
rs1559052566
|
|
|
NM_000090.4(COL3A1):c.873C>A (p.Gly291=)
|
rs138569287
|
|
|
NM_000090.4(COL3A1):c.873C>G (p.Gly291=)
|
|
|
|
NM_000090.4(COL3A1):c.876A>G (p.Glu292=)
|
|
|
|
NM_000090.4(COL3A1):c.877A>G (p.Asn293Asp)
|
rs1131691328
|
|
|
NM_000090.4(COL3A1):c.87A>G (p.Glu29=)
|
|
|
|
NM_000090.4(COL3A1):c.880G>A (p.Gly294Arg)
|
rs2153502094
|
|
|
NM_000090.4(COL3A1):c.888T>G (p.Pro296=)
|
|
|
|
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg)
|
rs1553507557
|
|
|
NM_000090.4(COL3A1):c.895A>G (p.Met299Val)
|
|
|
|
NM_000090.4(COL3A1):c.897+12T>A
|
|
|
|
NM_000090.4(COL3A1):c.897+15T>G
|
|
|
|
NM_000090.4(COL3A1):c.897+17T>C
|
|
|
|
NM_000090.4(COL3A1):c.897+1G>A
|
rs1057518372
|
|
|
NM_000090.4(COL3A1):c.897+20A>G
|
|
|
|
NM_000090.4(COL3A1):c.897+20del
|
|
|
|
NM_000090.4(COL3A1):c.898-19T>C
|
|
|
|
NM_000090.4(COL3A1):c.898-1G>C
|
rs587779556
|
|
|
NM_000090.4(COL3A1):c.898-2A>T
|
|
|
|
NM_000090.4(COL3A1):c.898-4G>T
|
|
|
|
NM_000090.4(COL3A1):c.898-8C>T
|
rs766564882
|
|
|
NM_000090.4(COL3A1):c.898G>C (p.Gly300Arg)
|
rs587779481
|
|
|
NM_000090.4(COL3A1):c.899G>A (p.Gly300Asp)
|
rs587779440
|
|
|
NM_000090.4(COL3A1):c.899G>T (p.Gly300Val)
|
rs587779440
|
|
|
NM_000090.4(COL3A1):c.904A>G (p.Arg302Gly)
|
|
|
|
NM_000090.4(COL3A1):c.907G>A (p.Gly303Arg)
|
rs121912919
|
|
|
NM_000090.4(COL3A1):c.910G>C (p.Ala304Pro)
|
|
|
|
NM_000090.4(COL3A1):c.910G>T (p.Ala304Ser)
|
|
|
|
NM_000090.4(COL3A1):c.913C>T (p.Pro305Ser)
|
rs1204385773
|
|
|
NM_000090.4(COL3A1):c.915T>G (p.Pro305=)
|
rs2153502119
|
|
|
NM_000090.4(COL3A1):c.922C>T (p.Arg308Ter)
|
|
|
|
NM_000090.4(COL3A1):c.926G>A (p.Gly309Glu)
|
rs113871730
|
|
|
NM_000090.4(COL3A1):c.931C>T (p.Pro311Ser)
|
rs2153502120
|
|
|
NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs)
|
rs772827388
|
|
|
NM_000090.4(COL3A1):c.939T>C (p.Leu313=)
|
|
|
|
NM_000090.4(COL3A1):c.940C>G (p.Pro314Ala)
|
|
|
|
NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala)
|
rs587779487
|
|
|
NM_000090.4(COL3A1):c.944G>T (p.Gly315Val)
|
rs587779487
|
|
|
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser)
|
rs958176385
|
|
|
NM_000090.4(COL3A1):c.948T>A (p.Ala316=)
|
rs1688194214
|
|
|
NM_000090.4(COL3A1):c.951+10G>C
|
|
|
|
NM_000090.4(COL3A1):c.951+18C>T
|
|
|
|
NM_000090.4(COL3A1):c.951+19A>T
|
|
|
|
NM_000090.4(COL3A1):c.951+1G>A
|
rs587779652
|
|
|
NM_000090.4(COL3A1):c.951+2T>A
|
rs587779426
|
|
|
NM_000090.4(COL3A1):c.951+2T>C
|
rs587779426
|
|
|
NM_000090.4(COL3A1):c.951+3G>T
|
rs587779452
|
|
|
NM_000090.4(COL3A1):c.951+4A>T
|
rs587779598
|
|
|
|