NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln)
|
rs1516446
|
0.99509
|
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=)
|
rs1801184
|
0.27758
|
NM_000090.4(COL3A1):c.1978-11C>T
|
rs13306272
|
0.23521
|
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.1257C>T (p.Ala419=)
|
rs41272837
|
0.01840
|
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=)
|
rs80302667
|
0.01481
|
NM_000090.4(COL3A1):c.583-8C>T
|
rs10166835
|
0.00713
|
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.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.1927T>C (p.Leu643=)
|
rs41263757
|
0.00244
|
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.2056C>G (p.Pro686Ala)
|
rs41263775
|
0.00146
|
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_000090.4(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.3642C>A (p.Gly1214=)
|
rs184402915
|
0.00029
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
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.3413C>T (p.Pro1138Leu)
|
rs201880122
|
0.00014
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
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.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.3775G>A (p.Ala1259Thr)
|
rs776478974
|
0.00010
|
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His)
|
rs138533702
|
0.00010
|
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.2242G>A (p.Gly748Ser)
|
rs771585795
|
0.00008
|
NM_000090.4(COL3A1):c.3630T>G (p.Gly1210=)
|
rs771034601
|
0.00008
|
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.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.1995C>T (p.Ala665=)
|
rs149093989
|
0.00006
|
NM_000090.4(COL3A1):c.217G>C (p.Asp73His)
|
rs200246388
|
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.2913T>G (p.Pro971=)
|
rs367872728
|
0.00006
|
NM_000090.4(COL3A1):c.3035G>A (p.Arg1012Lys)
|
rs865829661
|
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.546C>T (p.Pro182=)
|
rs754584062
|
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.1188C>T (p.Gly396=)
|
rs745743884
|
0.00005
|
NM_000090.4(COL3A1):c.2241C>T (p.Gly747=)
|
rs745440847
|
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.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.3066A>G (p.Pro1022=)
|
rs756680770
|
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.3462T>G (p.Ser1154Arg)
|
rs769100283
|
0.00004
|
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr)
|
rs550665335
|
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.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.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.2305C>T (p.Pro769Ser)
|
rs746504108
|
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.2709G>A (p.Gly903=)
|
rs1057524521
|
0.00003
|
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=)
|
rs369992399
|
0.00003
|
NM_000090.4(COL3A1):c.334-13A>G
|
rs375137220
|
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.708C>T (p.Pro236=)
|
rs775390389
|
0.00003
|
NM_000090.4(COL3A1):c.956C>T (p.Ala319Val)
|
rs754503346
|
0.00003
|
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.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.1885A>G (p.Lys629Glu)
|
rs1466862530
|
0.00002
|
NM_000090.4(COL3A1):c.1895C>T (p.Thr632Ile)
|
rs769039976
|
0.00002
|
NM_000090.4(COL3A1):c.2109C>T (p.Pro703=)
|
rs746947080
|
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.2608-10C>T
|
rs1217009146
|
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.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.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.3816C>G (p.Leu1272=)
|
rs754340753
|
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.599A>C (p.Gln200Pro)
|
rs780921226
|
0.00002
|
NM_000090.4(COL3A1):c.691-8C>G
|
rs749433733
|
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.96T>C (p.Cys32=)
|
rs1296448513
|
0.00002
|
NM_000090.4(COL3A1):c.-10A>G
|
rs41272793
|
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.1109A>G (p.Glu370Gly)
|
rs748323501
|
0.00001
|
NM_000090.4(COL3A1):c.1129G>A (p.Ala377Thr)
|
rs1248348633
|
0.00001
|
NM_000090.4(COL3A1):c.1149+3A>G
|
rs1466133249
|
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.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.1294-8T>C
|
rs1226243055
|
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.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.1431G>A (p.Gly477=)
|
rs368765585
|
0.00001
|
NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro)
|
rs374532173
|
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.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.1558G>A (p.Ala520Thr)
|
rs1410374684
|
0.00001
|
NM_000090.4(COL3A1):c.1609-11C>A
|
rs1474506962
|
0.00001
|
NM_000090.4(COL3A1):c.1609-5T>C
|
rs766119542
|
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.1758T>C (p.Asn586=)
|
rs756227982
|
0.00001
|
NM_000090.4(COL3A1):c.1761+6T>C
|
rs189483688
|
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.1864C>T (p.Pro622Ser)
|
rs772638774
|
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.1921C>G (p.Gln641Glu)
|
rs794728048
|
0.00001
|
NM_000090.4(COL3A1):c.1924-4C>T
|
rs755814664
|
0.00001
|
NM_000090.4(COL3A1):c.194T>C (p.Ile65Thr)
|
rs1050728178
|
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.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.2023-15A>G
|
rs764932588
|
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.2127T>A (p.Ala709=)
|
rs1436021194
|
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.2290A>G (p.Thr764Ala)
|
rs775003113
|
0.00001
|
NM_000090.4(COL3A1):c.2310T>G (p.Pro770=)
|
rs1321267556
|
0.00001
|
NM_000090.4(COL3A1):c.2461C>A (p.Pro821Thr)
|
rs1296092212
|
0.00001
|
NM_000090.4(COL3A1):c.2479A>G (p.Arg827Gly)
|
rs1309388302
|
0.00001
|
NM_000090.4(COL3A1):c.2506G>A (p.Gly836Arg)
|
rs1363971558
|
0.00001
|
NM_000090.4(COL3A1):c.2530C>T (p.Pro844Ser)
|
rs780490668
|
0.00001
|
NM_000090.4(COL3A1):c.2531C>T (p.Pro844Leu)
|
rs943287668
|
0.00001
|
NM_000090.4(COL3A1):c.2565T>C (p.Gly855=)
|
rs774245587
|
0.00001
|
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)
|
rs376643618
|
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.2724G>A (p.Ala908=)
|
rs754015151
|
0.00001
|
NM_000090.4(COL3A1):c.2766A>C (p.Pro922=)
|
rs915948354
|
0.00001
|
NM_000090.4(COL3A1):c.280G>T (p.Ala94Ser)
|
rs761447734
|
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.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.3098A>T (p.Asp1033Val)
|
rs1060500206
|
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.3163G>A (p.Val1055Ile)
|
rs747197616
|
0.00001
|
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser)
|
rs1223008559
|
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.3224C>T (p.Ala1075Val)
|
rs952989325
|
0.00001
|
NM_000090.4(COL3A1):c.3255T>C (p.Pro1085=)
|
rs763604822
|
0.00001
|
NM_000090.4(COL3A1):c.3256-13T>C
|
rs753338091
|
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.3321A>G (p.Gly1107=)
|
rs1364238191
|
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.3364-8C>T
|
rs779073034
|
0.00001
|
NM_000090.4(COL3A1):c.3418-15A>G
|
rs754815421
|
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.3478A>T (p.Ile1160Phe)
|
rs1688636735
|
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.3593G>A (p.Gly1198Asp)
|
rs756858564
|
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.3693C>A (p.Thr1231=)
|
rs368556405
|
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.3821G>A (p.Ser1274Asn)
|
rs1688666675
|
0.00001
|
NM_000090.4(COL3A1):c.3824-11T>G
|
rs766096022
|
0.00001
|
NM_000090.4(COL3A1):c.3845A>G (p.Asn1282Ser)
|
rs1483989815
|
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.3935G>A (p.Arg1312Gln)
|
rs772919524
|
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.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.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.4273A>G (p.Ser1425Gly)
|
rs1415901923
|
0.00001
|
NM_000090.4(COL3A1):c.4276A>G (p.Lys1426Glu)
|
rs908421014
|
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.4357G>A (p.Asp1453Asn)
|
rs1131691353
|
0.00001
|
NM_000090.4(COL3A1):c.4372G>A (p.Val1458Met)
|
rs751427069
|
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.537A>G (p.Pro179=)
|
rs750191923
|
0.00001
|
NM_000090.4(COL3A1):c.567T>C (p.Gly189=)
|
rs946410316
|
0.00001
|
NM_000090.4(COL3A1):c.578C>T (p.Ser193Phe)
|
rs374532486
|
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.706C>T (p.Pro236Ser)
|
rs771858477
|
0.00001
|
NM_000090.4(COL3A1):c.713G>A (p.Arg238Gln)
|
rs760324242
|
0.00001
|
NM_000090.4(COL3A1):c.725G>A (p.Arg242Gln)
|
rs372025063
|
0.00001
|
NM_000090.4(COL3A1):c.745-7T>C
|
rs776306752
|
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.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.816T>G (p.Asn272Lys)
|
rs776111781
|
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.884C>T (p.Ala295Val)
|
rs1016767830
|
0.00001
|
NM_000090.4(COL3A1):c.891A>C (p.Gly297=)
|
rs751603655
|
0.00001
|
NM_000090.4(COL3A1):c.898-14A>G
|
rs763316592
|
0.00001
|
NM_000090.4(COL3A1):c.945G>A (p.Gly315=)
|
rs372206736
|
0.00001
|
NM_000090.4(COL3A1):c.996A>G (p.Pro332=)
|
rs1229792348
|
0.00001
|
NM_000090.4(COL3A1):c.*3C>A
|
rs1383823798
|
|
NM_000090.4(COL3A1):c.1003C>T (p.Pro335Ser)
|
rs757785982
|
|
NM_000090.4(COL3A1):c.1009C>T (p.Pro337Ser)
|
|
|
NM_000090.4(COL3A1):c.1010C>T (p.Pro337Leu)
|
rs1688217484
|
|
NM_000090.4(COL3A1):c.1032T>G (p.Pro344=)
|
rs1688218162
|
|
NM_000090.4(COL3A1):c.1043G>C (p.Gly348Ala)
|
rs1688218490
|
|
NM_000090.4(COL3A1):c.1050+3A>G
|
|
|
NM_000090.4(COL3A1):c.1057G>A (p.Val353Ile)
|
rs1688228735
|
|
NM_000090.4(COL3A1):c.1073C>A (p.Ser358Tyr)
|
rs2153502278
|
|
NM_000090.4(COL3A1):c.1077T>C (p.Pro359=)
|
rs1688229266
|
|
NM_000090.4(COL3A1):c.1090G>T (p.Ala364Ser)
|
rs867793469
|
|
NM_000090.4(COL3A1):c.1091C>T (p.Ala364Val)
|
|
|
NM_000090.4(COL3A1):c.1094C>G (p.Pro365Arg)
|
rs1464219199
|
|
NM_000090.4(COL3A1):c.1102A>G (p.Arg368Gly)
|
rs2153502282
|
|
NM_000090.4(COL3A1):c.1118C>T (p.Pro373Leu)
|
rs1688230677
|
|
NM_000090.4(COL3A1):c.1125A>T (p.Gly375=)
|
rs1688230841
|
|
NM_000090.4(COL3A1):c.1146T>C (p.Pro382=)
|
rs2153502287
|
|
NM_000090.4(COL3A1):c.1149+6T>C
|
|
|
NM_000090.4(COL3A1):c.1150-7T>C
|
rs1688243474
|
|
NM_000090.4(COL3A1):c.1152C>T (p.Gly384=)
|
rs1688243975
|
|
NM_000090.4(COL3A1):c.1195-3T>G
|
rs1688248649
|
|
NM_000090.4(COL3A1):c.1195-6T>C
|
rs1688248520
|
|
NM_000090.4(COL3A1):c.1195-9T>C
|
|
|
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.1216G>C (p.Ala406Pro)
|
rs1283408710
|
|
NM_000090.4(COL3A1):c.121G>A (p.Asp41Asn)
|
rs794728035
|
|
NM_000090.4(COL3A1):c.1225C>G (p.Leu409Val)
|
rs1026603456
|
|
NM_000090.4(COL3A1):c.1229T>C (p.Met410Thr)
|
rs1369779639
|
|
NM_000090.4(COL3A1):c.1230G>T (p.Met410Ile)
|
rs2153502373
|
|
NM_000090.4(COL3A1):c.123T>C (p.Asp41=)
|
rs770961095
|
|
NM_000090.4(COL3A1):c.1264A>G (p.Asn422Asp)
|
rs1688252085
|
|
NM_000090.4(COL3A1):c.1265A>G (p.Asn422Ser)
|
|
|
NM_000090.4(COL3A1):c.1275T>A (p.Pro425=)
|
rs1479463446
|
|
NM_000090.4(COL3A1):c.1281G>A (p.Leu427=)
|
rs750476636
|
|
NM_000090.4(COL3A1):c.1294-3T>C
|
rs587779496
|
|
NM_000090.4(COL3A1):c.1294-6C>T
|
rs1056924348
|
|
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys)
|
rs150670470
|
|
NM_000090.4(COL3A1):c.1329C>T (p.Pro443=)
|
rs527291598
|
|
NM_000090.4(COL3A1):c.1335A>G (p.Pro445=)
|
rs1193108024
|
|
NM_000090.4(COL3A1):c.1337G>A (p.Arg446His)
|
rs149852181
|
|
NM_000090.4(COL3A1):c.1347+1G>A
|
rs397509370
|
|
NM_000090.4(COL3A1):c.1348-11T>C
|
rs1334349221
|
|
NM_000090.4(COL3A1):c.1359T>C (p.Gly453=)
|
rs1232746183
|
|
NM_000090.4(COL3A1):c.1383_1384delinsTA (p.Lys461_Gly462delinsAsnSer)
|
rs2153502437
|
|
NM_000090.4(COL3A1):c.1387G>A (p.Glu463Lys)
|
rs2153502439
|
|
NM_000090.4(COL3A1):c.1401T>C (p.Asp467=)
|
|
|
NM_000090.4(COL3A1):c.1442C>G (p.Ala481Gly)
|
rs1688268227
|
|
NM_000090.4(COL3A1):c.1455+4C>A
|
|
|
NM_000090.4(COL3A1):c.1456-15T>G
|
rs1688273707
|
|
NM_000090.4(COL3A1):c.1460C>T (p.Ala487Val)
|
|
|
NM_000090.4(COL3A1):c.1461C>T (p.Ala487=)
|
rs747522483
|
|
NM_000090.4(COL3A1):c.1472G>C (p.Arg491Pro)
|
|
|
NM_000090.4(COL3A1):c.1480G>T (p.Ala494Ser)
|
rs200866608
|
|
NM_000090.4(COL3A1):c.1494C>A (p.Gly498=)
|
rs1688275346
|
|
NM_000090.4(COL3A1):c.1507A>G (p.Lys503Glu)
|
rs1688275818
|
|
NM_000090.4(COL3A1):c.1508A>T (p.Lys503Met)
|
|
|
NM_000090.4(COL3A1):c.1509+5A>G
|
rs572863064
|
|
NM_000090.4(COL3A1):c.1509+7_1509+21del
|
rs781662866
|
|
NM_000090.4(COL3A1):c.1513C>G (p.Pro505Ala)
|
rs776430998
|
|
NM_000090.4(COL3A1):c.1517C>T (p.Ala506Val)
|
|
|
NM_000090.4(COL3A1):c.1531G>A (p.Ala511Thr)
|
rs926106259
|
|
NM_000090.4(COL3A1):c.1536A>C (p.Pro512=)
|
rs975159988
|
|
NM_000090.4(COL3A1):c.1543G>A (p.Ala515Thr)
|
rs937534609
|
|
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg)
|
rs142085247
|
|
NM_000090.4(COL3A1):c.1570C>T (p.Pro524Ser)
|
rs1688292530
|
|
NM_000090.4(COL3A1):c.1580A>G (p.Asp527Gly)
|
rs1688292723
|
|
NM_000090.4(COL3A1):c.1590T>A (p.Pro530=)
|
rs1688293277
|
|
NM_000090.4(COL3A1):c.1590T>C (p.Pro530=)
|
rs1688293277
|
|
NM_000090.4(COL3A1):c.1609-10T>C
|
rs762824449
|
|
NM_000090.4(COL3A1):c.1609-4T>G
|
rs1688303812
|
|
NM_000090.4(COL3A1):c.1609G>A (p.Gly537Ser)
|
rs1688304002
|
|
NM_000090.4(COL3A1):c.1612A>G (p.Met538Val)
|
rs2153502614
|
|
NM_000090.4(COL3A1):c.1622G>C (p.Ser541Thr)
|
|
|
NM_000090.4(COL3A1):c.1643A>T (p.Asp548Val)
|
|
|
NM_000090.4(COL3A1):c.1652C>G (p.Pro551Arg)
|
rs868705044
|
|
NM_000090.4(COL3A1):c.1652C>T (p.Pro551Leu)
|
rs868705044
|
|
NM_000090.4(COL3A1):c.1656G>T (p.Gly552=)
|
|
|
NM_000090.4(COL3A1):c.1660C>G (p.Pro554Ala)
|
rs1334678815
|
|
NM_000090.4(COL3A1):c.1662+4T>C
|
rs1319321003
|
|
NM_000090.4(COL3A1):c.1662+4T>G
|
rs1319321003
|
|
NM_000090.4(COL3A1):c.1662+6T>C
|
rs2153502633
|
|
NM_000090.4(COL3A1):c.1663-9T>G
|
|
|
NM_000090.4(COL3A1):c.1663-9del
|
rs770372880
|
|
NM_000090.4(COL3A1):c.1665A>T (p.Gly555=)
|
rs1688319376
|
|
NM_000090.4(COL3A1):c.1667G>A (p.Ser556Asn)
|
rs1688319466
|
|
NM_000090.4(COL3A1):c.1675G>A (p.Glu559Lys)
|
|
|
NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter)
|
rs375737772
|
|
NM_000090.4(COL3A1):c.1712C>A (p.Pro571His)
|
rs1688321100
|
|
NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)
|
|
|
NM_000090.4(COL3A1):c.1723C>T (p.Pro575Ser)
|
rs1688321435
|
|
NM_000090.4(COL3A1):c.1729G>A (p.Val577Ile)
|
rs1688321543
|
|
NM_000090.4(COL3A1):c.1762-11T>G
|
rs761637298
|
|
NM_000090.4(COL3A1):c.1762-13A>G
|
rs776161087
|
|
NM_000090.4(COL3A1):c.1765G>A (p.Ala589Thr)
|
rs1327158014
|
|
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu)
|
rs1039226542
|
|
NM_000090.4(COL3A1):c.1836T>C (p.Gly612=)
|
rs1576467117
|
|
NM_000090.4(COL3A1):c.1850A>G (p.Gln617Arg)
|
rs1430358032
|
|
NM_000090.4(COL3A1):c.1855C>A (p.Pro619Thr)
|
rs780889214
|
|
NM_000090.4(COL3A1):c.1855C>T (p.Pro619Ser)
|
rs780889214
|
|
NM_000090.4(COL3A1):c.1856C>G (p.Pro619Arg)
|
|
|
NM_000090.4(COL3A1):c.1870-12A>G
|
rs1231508385
|
|
NM_000090.4(COL3A1):c.1870-13_1870-11del
|
rs1312775368
|
|
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys)
|
rs769039976
|
|
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser)
|
rs762129273
|
|
NM_000090.4(COL3A1):c.1919T>C (p.Leu640Ser)
|
rs2153502847
|
|
NM_000090.4(COL3A1):c.1923+3A>G
|
rs1214796107
|
|
NM_000090.4(COL3A1):c.1924-14A>G
|
|
|
NM_000090.4(COL3A1):c.1924-5T>C
|
rs1336001254
|
|
NM_000090.4(COL3A1):c.193A>G (p.Ile65Val)
|
rs1440480352
|
|
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu)
|
rs2153501357
|
|
NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr)
|
rs1064796979
|
|
NM_000090.4(COL3A1):c.1975C>T (p.Pro659Ser)
|
|
|
NM_000090.4(COL3A1):c.1976C>G (p.Pro659Arg)
|
rs756822808
|
|
NM_000090.4(COL3A1):c.1978-25_1978-11del
|
rs2153502936
|
|
NM_000090.4(COL3A1):c.1978-6T>C
|
|
|
NM_000090.4(COL3A1):c.1986G>T (p.Lys662Asn)
|
rs1443558947
|
|
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.2003C>T (p.Pro668Leu)
|
rs1576467905
|
|
NM_000090.4(COL3A1):c.2023-12T>C
|
rs1214309645
|
|
NM_000090.4(COL3A1):c.2023-3C>T
|
|
|
NM_000090.4(COL3A1):c.2023-4A>T
|
rs749995320
|
|
NM_000090.4(COL3A1):c.204C>A (p.Asp68Glu)
|
rs368299739
|
|
NM_000090.4(COL3A1):c.205G>T (p.Asp69Tyr)
|
rs112714742
|
|
NM_000090.4(COL3A1):c.2065G>T (p.Ala689Ser)
|
rs886055331
|
|
NM_000090.4(COL3A1):c.2072C>T (p.Ala691Val)
|
rs199851835
|
|
NM_000090.4(COL3A1):c.2098C>T (p.Pro700Ser)
|
rs1261828944
|
|
NM_000090.4(COL3A1):c.209A>G (p.Gln70Arg)
|
rs2153501359
|
|
NM_000090.4(COL3A1):c.2107C>T (p.Pro703Ser)
|
rs780123051
|
|
NM_000090.4(COL3A1):c.2117G>A (p.Gly706Glu)
|
rs1688402397
|
|
NM_000090.4(COL3A1):c.2122-5T>C
|
rs2153503017
|
|
NM_000090.4(COL3A1):c.2134C>T (p.Pro712Ser)
|
rs1576468303
|
|
NM_000090.4(COL3A1):c.2135C>T (p.Pro712Leu)
|
rs780028064
|
|
NM_000090.4(COL3A1):c.2136T>A (p.Pro712=)
|
rs2153503024
|
|
NM_000090.4(COL3A1):c.2152_2153delinsTT (p.Ala718Phe)
|
rs2153503026
|
|
NM_000090.4(COL3A1):c.216A>G (p.Leu72=)
|
rs1688032482
|
|
NM_000090.4(COL3A1):c.222C>T (p.Cys74=)
|
rs1688032683
|
|
NM_000090.4(COL3A1):c.2230-5G>A
|
rs74458631
|
|
NM_000090.4(COL3A1):c.2230-7T>C
|
rs1688417043
|
|
NM_000090.4(COL3A1):c.2236C>A (p.Pro746Thr)
|
rs1688417443
|
|
NM_000090.4(COL3A1):c.2248G>C (p.Gly750Arg)
|
rs1688418367
|
|
NM_000090.4(COL3A1):c.2256T>C (p.Asp752=)
|
rs1688418542
|
|
NM_000090.4(COL3A1):c.2259_2260delinsGA (p.Val754Ile)
|
rs2153503068
|
|
NM_000090.4(COL3A1):c.2284-13T>G
|
|
|
NM_000090.4(COL3A1):c.229C>T (p.Pro77Ser)
|
rs1688032952
|
|
NM_000090.4(COL3A1):c.2301T>C (p.Ile767=)
|
rs1559059510
|
|
NM_000090.4(COL3A1):c.2308C>T (p.Pro770Ser)
|
|
|
NM_000090.4(COL3A1):c.2318C>G (p.Ala773Gly)
|
rs2153503231
|
|
NM_000090.4(COL3A1):c.235A>G (p.Ile79Val)
|
rs779214140
|
|
NM_000090.4(COL3A1):c.242T>C (p.Phe81Ser)
|
rs1576460785
|
|
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.2493T>C (p.Gly831=)
|
rs551541918
|
|
NM_000090.4(COL3A1):c.2499A>T (p.Lys833Asn)
|
rs1688501435
|
|
NM_000090.4(COL3A1):c.2521G>T (p.Val841Phe)
|
rs1688502124
|
|
NM_000090.4(COL3A1):c.2530C>G (p.Pro844Ala)
|
rs780490668
|
|
NM_000090.4(COL3A1):c.2540G>A (p.Gly847Asp)
|
|
|
NM_000090.4(COL3A1):c.2540G>T (p.Gly847Val)
|
rs1336654706
|
|
NM_000090.4(COL3A1):c.2553T>A (p.Ala851=)
|
rs1688503201
|
|
NM_000090.4(COL3A1):c.2554-6A>G
|
rs1688514197
|
|
NM_000090.4(COL3A1):c.2568C>T (p.Pro856=)
|
rs767262368
|
|
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His)
|
rs755762264
|
|
NM_000090.4(COL3A1):c.2601T>C (p.Gly867=)
|
|
|
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.2608-15A>G
|
rs1688522575
|
|
NM_000090.4(COL3A1):c.2614G>C (p.Ala872Pro)
|
rs1475390693
|
|
NM_000090.4(COL3A1):c.2633G>A (p.Arg878His)
|
rs1419949637
|
|
NM_000090.4(COL3A1):c.2675C>T (p.Pro892Leu)
|
rs1447793042
|
|
NM_000090.4(COL3A1):c.2720C>T (p.Pro907Leu)
|
rs1688530290
|
|
NM_000090.4(COL3A1):c.2723C>G (p.Ala908Gly)
|
rs144036995
|
|
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val)
|
rs144036995
|
|
NM_000090.4(COL3A1):c.2737G>C (p.Ala913Pro)
|
|
|
NM_000090.4(COL3A1):c.2756T>G (p.Val919Gly)
|
rs1426365127
|
|
NM_000090.4(COL3A1):c.2791G>C (p.Glu931Gln)
|
|
|
NM_000090.4(COL3A1):c.2801C>T (p.Ser934Leu)
|
rs753621331
|
|
NM_000090.4(COL3A1):c.2809G>A (p.Ala937Thr)
|
rs1688533171
|
|
NM_000090.4(COL3A1):c.2819C>A (p.Pro940Gln)
|
rs1221479337
|
|
NM_000090.4(COL3A1):c.2823+5G>A
|
rs1559060755
|
|
NM_000090.4(COL3A1):c.2823+5G>C
|
rs1559060755
|
|
NM_000090.4(COL3A1):c.2823+5_2823+8del
|
|
|
NM_000090.4(COL3A1):c.2824-10T>A
|
rs2153503519
|
|
NM_000090.4(COL3A1):c.2824-12T>C
|
|
|
NM_000090.4(COL3A1):c.2824-7G>A
|
rs1559060817
|
|
NM_000090.4(COL3A1):c.283C>A (p.Pro95Thr)
|
rs1688039740
|
|
NM_000090.4(COL3A1):c.2844G>A (p.Gly948=)
|
rs1688537796
|
|
NM_000090.4(COL3A1):c.2844G>T (p.Gly948=)
|
rs1688537796
|
|
NM_000090.4(COL3A1):c.2867G>A (p.Arg956Gln)
|
|
|
NM_000090.4(COL3A1):c.2899C>T (p.Pro967Ser)
|
|
|
NM_000090.4(COL3A1):c.2900C>A (p.Pro967His)
|
rs1688539642
|
|
NM_000090.4(COL3A1):c.2903G>A (p.Arg968Lys)
|
|
|
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.2917C>T (p.Pro973Ser)
|
rs1559060895
|
|
NM_000090.4(COL3A1):c.2932-6A>G
|
|
|
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His)
|
rs374527092
|
|
NM_000090.4(COL3A1):c.2980C>A (p.Pro994Thr)
|
rs142457159
|
|
NM_000090.4(COL3A1):c.2981C>T (p.Pro994Leu)
|
rs1688563132
|
|
NM_000090.4(COL3A1):c.2982C>G (p.Pro994=)
|
|
|
NM_000090.4(COL3A1):c.2982C>T (p.Pro994=)
|
|
|
NM_000090.4(COL3A1):c.2992C>G (p.Gln998Glu)
|
|
|
NM_000090.4(COL3A1):c.3001C>T (p.Pro1001Ser)
|
rs777180110
|
|
NM_000090.4(COL3A1):c.3007C>T (p.Leu1003=)
|
rs868559197
|
|
NM_000090.4(COL3A1):c.3009G>T (p.Leu1003=)
|
rs762167409
|
|
NM_000090.4(COL3A1):c.300T>A (p.Asn100Lys)
|
rs776373729
|
|
NM_000090.4(COL3A1):c.300T>G (p.Asn100Lys)
|
rs776373729
|
|
NM_000090.4(COL3A1):c.3010G>T (p.Ala1004Ser)
|
rs770199071
|
|
NM_000090.4(COL3A1):c.3027A>G (p.Glu1009=)
|
rs1688564473
|
|
NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)
|
|
|
NM_000090.4(COL3A1):c.3044A>G (p.Asn1015Ser)
|
rs1064796863
|
|
NM_000090.4(COL3A1):c.305A>T (p.Gln102Leu)
|
rs748033086
|
|
NM_000090.4(COL3A1):c.3089G>A (p.Gly1030Asp)
|
|
|
NM_000090.4(COL3A1):c.3092A>C (p.Lys1031Thr)
|
rs749725146
|
|
NM_000090.4(COL3A1):c.3093+3A>C
|
rs771429937
|
|
NM_000090.4(COL3A1):c.3093+5A>G
|
rs1688583785
|
|
NM_000090.4(COL3A1):c.3100C>A (p.Arg1034Ser)
|
|
|
NM_000090.4(COL3A1):c.3101G>T (p.Arg1034Leu)
|
rs780788248
|
|
NM_000090.4(COL3A1):c.3117T>C (p.Ser1039=)
|
rs1559061716
|
|
NM_000090.4(COL3A1):c.3134C>T (p.Ala1045Val)
|
|
|
NM_000090.4(COL3A1):c.3141T>A (p.Gly1047=)
|
rs1443252912
|
|
NM_000090.4(COL3A1):c.3172G>A (p.Ala1058Thr)
|
rs1576471863
|
|
NM_000090.4(COL3A1):c.3186T>C (p.Gly1062=)
|
|
|
NM_000090.4(COL3A1):c.3190A>G (p.Arg1064Gly)
|
|
|
NM_000090.4(COL3A1):c.3201+3G>A
|
|
|
NM_000090.4(COL3A1):c.3202-12T>C
|
rs2153503779
|
|
NM_000090.4(COL3A1):c.3207T>G (p.Pro1069=)
|
rs774148328
|
|
NM_000090.4(COL3A1):c.320C>G (p.Pro107Arg)
|
rs1559052813
|
|
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=)
|
rs1060503873
|
|
NM_000090.4(COL3A1):c.3235G>T (p.Ala1079Ser)
|
rs1688599491
|
|
NM_000090.4(COL3A1):c.3250G>T (p.Ala1084Ser)
|
rs113038686
|
|
NM_000090.4(COL3A1):c.3252T>C (p.Ala1084=)
|
|
|
NM_000090.4(COL3A1):c.3255+11_3255+20dup
|
|
|
NM_000090.4(COL3A1):c.3255T>A (p.Pro1085=)
|
rs763604822
|
|
NM_000090.4(COL3A1):c.3256-43T>C
|
rs587779667
|
|
NM_000090.4(COL3A1):c.3258T>A (p.Gly1086=)
|
rs1688619835
|
|
NM_000090.4(COL3A1):c.3272G>A (p.Arg1091His)
|
|
|
NM_000090.4(COL3A1):c.3281A>G (p.Lys1094Arg)
|
rs2153503892
|
|
NM_000090.4(COL3A1):c.3290C>G (p.Thr1097Arg)
|
rs1224538144
|
|
NM_000090.4(COL3A1):c.3309T>G (p.Ala1103=)
|
rs1688621437
|
|
NM_000090.4(COL3A1):c.3317A>G (p.Lys1106Arg)
|
|
|
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.3341A>G (p.Asn1114Ser)
|
|
|
NM_000090.4(COL3A1):c.3363+4A>C
|
|
|
NM_000090.4(COL3A1):c.3364-9del
|
rs1688629852
|
|
NM_000090.4(COL3A1):c.3367C>G (p.Pro1123Ala)
|
|
|
NM_000090.4(COL3A1):c.3375T>C (p.Gly1125=)
|
rs1355734194
|
|
NM_000090.4(COL3A1):c.3388A>G (p.Ile1130Val)
|
|
|
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.3393C>T (p.Gly1131=)
|
|
|
NM_000090.4(COL3A1):c.3415A>G (p.Arg1139Gly)
|
rs1688631864
|
|
NM_000090.4(COL3A1):c.3418-5C>G
|
rs377392671
|
|
NM_000090.4(COL3A1):c.3422C>T (p.Pro1141Leu)
|
rs1576472883
|
|
NM_000090.4(COL3A1):c.3425T>G (p.Val1142Gly)
|
rs777307062
|
|
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs)
|
rs2153503975
|
|
NM_000090.4(COL3A1):c.3476C>T (p.Pro1159Leu)
|
rs1378423439
|
|
NM_000090.4(COL3A1):c.3478A>G (p.Ile1160Val)
|
rs1688636735
|
|
NM_000090.4(COL3A1):c.348T>C (p.Ile116=)
|
|
|
NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp)
|
rs587779578
|
|
NM_000090.4(COL3A1):c.3505A>C (p.Arg1169=)
|
rs546664098
|
|
NM_000090.4(COL3A1):c.3525+5G>A
|
rs2153503988
|
|
NM_000090.4(COL3A1):c.3526-4C>T
|
|
|
NM_000090.4(COL3A1):c.3526-6T>C
|
|
|
NM_000090.4(COL3A1):c.3537C>T (p.Gly1179=)
|
rs146837092
|
|
NM_000090.4(COL3A1):c.3551C>G (p.Pro1184Arg)
|
rs1688657446
|
|
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser)
|
rs1324996402
|
|
NM_000090.4(COL3A1):c.3570T>C (p.Pro1190=)
|
rs1688657949
|
|
NM_000090.4(COL3A1):c.3574_3582del (p.Ala1192_Gly1194del)
|
rs2153504077
|
|
NM_000090.4(COL3A1):c.3576C>G (p.Ala1192=)
|
rs574331101
|
|
NM_000090.4(COL3A1):c.3577C>T (p.Pro1193Ser)
|
rs1275851079
|
|
NM_000090.4(COL3A1):c.3595G>A (p.Gly1199Ser)
|
rs2153504082
|
|
NM_000090.4(COL3A1):c.3596G>T (p.Gly1199Val)
|
rs1688658772
|
|
NM_000090.4(COL3A1):c.3601_3602delinsTT (p.Gly1201Leu)
|
|
|
NM_000090.4(COL3A1):c.3628G>A (p.Gly1210Ser)
|
|
|
NM_000090.4(COL3A1):c.3637G>C (p.Ala1213Pro)
|
rs1427744978
|
|
NM_000090.4(COL3A1):c.3642C>T (p.Gly1214=)
|
rs184402915
|
|
NM_000090.4(COL3A1):c.3654G>A (p.Pro1218=)
|
rs35759441
|
|
NM_000090.4(COL3A1):c.3658T>A (p.Tyr1220Asn)
|
rs1688661231
|
|
NM_000090.4(COL3A1):c.3670C>T (p.Pro1224Ser)
|
|
|
NM_000090.4(COL3A1):c.3672A>G (p.Pro1224=)
|
rs1204937173
|
|
NM_000090.4(COL3A1):c.3676G>A (p.Asp1226Asn)
|
rs1453881906
|
|
NM_000090.4(COL3A1):c.3678T>C (p.Asp1226=)
|
rs1688661575
|
|
NM_000090.4(COL3A1):c.3693C>T (p.Thr1231=)
|
rs368556405
|
|
NM_000090.4(COL3A1):c.369T>A (p.Pro123=)
|
rs1688052063
|
|
NM_000090.4(COL3A1):c.3746T>C (p.Ile1249Thr)
|
|
|
NM_000090.4(COL3A1):c.3754G>A (p.Asp1252Asn)
|
rs1688664293
|
|
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.3771C>T (p.Asn1257=)
|
|
|
NM_000090.4(COL3A1):c.3796A>C (p.Lys1266Gln)
|
rs946156674
|
|
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.3803G>C (p.Cys1268Ser)
|
rs1688665916
|
|
NM_000090.4(COL3A1):c.3816C>T (p.Leu1272=)
|
rs754340753
|
|
NM_000090.4(COL3A1):c.3824-13T>G
|
rs1000595244
|
|
NM_000090.4(COL3A1):c.3837T>G (p.Val1279=)
|
rs1688689651
|
|
NM_000090.4(COL3A1):c.3846C>T (p.Asn1282=)
|
rs1688690083
|
|
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.3873G>C (p.Lys1291Asn)
|
|
|
NM_000090.4(COL3A1):c.3882T>C (p.Cys1294=)
|
rs1033051824
|
|
NM_000090.4(COL3A1):c.3903A>T (p.Thr1301=)
|
rs1688691551
|
|
NM_000090.4(COL3A1):c.3907A>G (p.Ile1303Val)
|
|
|
NM_000090.4(COL3A1):c.3913G>T (p.Ala1305Ser)
|
rs1688691968
|
|
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.3940C>T (p.His1314Tyr)
|
rs1688692678
|
|
NM_000090.4(COL3A1):c.3953A>G (p.Asp1318Gly)
|
rs1688692973
|
|
NM_000090.4(COL3A1):c.3964G>C (p.Glu1322Gln)
|
rs149522780
|
|
NM_000090.4(COL3A1):c.3966G>A (p.Glu1322=)
|
rs560861999
|
|
NM_000090.4(COL3A1):c.3969G>C (p.Lys1323Asn)
|
rs2153504249
|
|
NM_000090.4(COL3A1):c.3996G>A (p.Met1332Ile)
|
|
|
NM_000090.4(COL3A1):c.4012-13T>C
|
rs1688702104
|
|
NM_000090.4(COL3A1):c.402T>G (p.Ser134=)
|
rs2153501486
|
|
NM_000090.4(COL3A1):c.4046T>C (p.Val1349Ala)
|
|
|
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.4072C>T (p.Arg1358Ter)
|
rs794728057
|
|
NM_000090.4(COL3A1):c.4080C>A (p.Leu1360=)
|
rs771682647
|
|
NM_000090.4(COL3A1):c.4088G>A (p.Arg1363Gln)
|
rs1227282800
|
|
NM_000090.4(COL3A1):c.4089A>G (p.Arg1363=)
|
rs1576474398
|
|
NM_000090.4(COL3A1):c.4131A>C (p.Ala1377=)
|
rs560478513
|
|
NM_000090.4(COL3A1):c.4134C>T (p.Tyr1378=)
|
rs2153504329
|
|
NM_000090.4(COL3A1):c.4135A>T (p.Met1379Leu)
|
rs1060500196
|
|
NM_000090.4(COL3A1):c.4143G>C (p.Gln1381His)
|
rs1029608155
|
|
NM_000090.4(COL3A1):c.4143G>T (p.Gln1381His)
|
rs1029608155
|
|
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile)
|
rs1158116878
|
|
NM_000090.4(COL3A1):c.416G>C (p.Gly139Ala)
|
|
|
NM_000090.4(COL3A1):c.4178T>G (p.Met1393Arg)
|
rs1688707596
|
|
NM_000090.4(COL3A1):c.419T>C (p.Ile140Thr)
|
rs750849196
|
|
NM_000090.4(COL3A1):c.4215T>C (p.Asn1405=)
|
rs1553509938
|
|
NM_000090.4(COL3A1):c.4226C>G (p.Thr1409Ser)
|
rs1688708929
|
|
NM_000090.4(COL3A1):c.4233A>G (p.Thr1411=)
|
rs1688709104
|
|
NM_000090.4(COL3A1):c.4253C>A (p.Thr1418Lys)
|
rs1012915558
|
|
NM_000090.4(COL3A1):c.4255-11C>A
|
rs766242305
|
|
NM_000090.4(COL3A1):c.4255-13T>G
|
rs1688727983
|
|
NM_000090.4(COL3A1):c.4255-5del
|
|
|
NM_000090.4(COL3A1):c.4255-5dup
|
rs756502242
|
|
NM_000090.4(COL3A1):c.4266G>A (p.Gly1422=)
|
rs1553509998
|
|
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.4295G>A (p.Arg1432Gln)
|
rs772428340
|
|
NM_000090.4(COL3A1):c.429A>T (p.Ser143=)
|
rs1688053631
|
|
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.431G>A (p.Cys144Tyr)
|
rs1688053672
|
|
NM_000090.4(COL3A1):c.4321A>G (p.Ile1441Val)
|
|
|
NM_000090.4(COL3A1):c.4330A>G (p.Ile1444Val)
|
rs1688730862
|
|
NM_000090.4(COL3A1):c.4353T>C (p.Gly1451=)
|
rs112729086
|
|
NM_000090.4(COL3A1):c.4356T>C (p.Pro1452=)
|
rs1688732011
|
|
NM_000090.4(COL3A1):c.4365A>G (p.Glu1455=)
|
rs1688732280
|
|
NM_000090.4(COL3A1):c.4384C>A (p.Pro1462Thr)
|
rs1688732943
|
|
NM_000090.4(COL3A1):c.446A>T (p.Gln149Leu)
|
|
|
NM_000090.4(COL3A1):c.474T>C (p.Tyr158=)
|
rs1688078938
|
|
NM_000090.4(COL3A1):c.493G>C (p.Ala165Pro)
|
|
|
NM_000090.4(COL3A1):c.494C>T (p.Ala165Val)
|
|
|
NM_000090.4(COL3A1):c.499GGA[1] (p.Gly168del)
|
rs1688079577
|
|
NM_000090.4(COL3A1):c.507C>G (p.Leu169=)
|
rs142437505
|
|
NM_000090.4(COL3A1):c.522A>T (p.Gly174=)
|
|
|
NM_000090.4(COL3A1):c.529-4C>G
|
rs1688100177
|
|
NM_000090.4(COL3A1):c.529-8C>T
|
|
|
NM_000090.4(COL3A1):c.531C>T (p.Gly177=)
|
rs41272797
|
|
NM_000090.4(COL3A1):c.540C>A (p.Gly180=)
|
|
|
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.55A>G (p.Thr19Ala)
|
rs1300339107
|
|
NM_000090.4(COL3A1):c.55A>T (p.Thr19Ser)
|
|
|
NM_000090.4(COL3A1):c.561A>C (p.Thr187=)
|
rs747650774
|
|
NM_000090.4(COL3A1):c.582+4_582+7dup
|
|
|
NM_000090.4(COL3A1):c.583-14A>T
|
|
|
NM_000090.4(COL3A1):c.583-7T>C
|
rs886055330
|
|
NM_000090.4(COL3A1):c.58A>G (p.Ile20Val)
|
rs1342128671
|
|
NM_000090.4(COL3A1):c.591A>G (p.Pro197=)
|
rs1261508252
|
|
NM_000090.4(COL3A1):c.598C>A (p.Gln200Lys)
|
|
|
NM_000090.4(COL3A1):c.605C>T (p.Pro202Leu)
|
rs1688111694
|
|
NM_000090.4(COL3A1):c.607C>G (p.Pro203Ala)
|
rs1688111809
|
|
NM_000090.4(COL3A1):c.607C>T (p.Pro203Ser)
|
rs1688111809
|
|
NM_000090.4(COL3A1):c.617C>G (p.Pro206Arg)
|
rs1268896574
|
|
NM_000090.4(COL3A1):c.627T>A (p.Ala209=)
|
|
|
NM_000090.4(COL3A1):c.637-4T>G
|
|
|
NM_000090.4(COL3A1):c.639C>A (p.Gly213=)
|
rs2153501865
|
|
NM_000090.4(COL3A1):c.659C>T (p.Ala220Val)
|
rs867258281
|
|
NM_000090.4(COL3A1):c.661A>G (p.Ile221Val)
|
|
|
NM_000090.4(COL3A1):c.679G>T (p.Ala227Ser)
|
|
|
NM_000090.4(COL3A1):c.691-12T>G
|
rs1688154429
|
|
NM_000090.4(COL3A1):c.708C>G (p.Pro236=)
|
rs775390389
|
|
NM_000090.4(COL3A1):c.739C>A (p.Pro247Thr)
|
rs1688156029
|
|
NM_000090.4(COL3A1):c.74A>G (p.Gln25Arg)
|
rs748787122
|
|
NM_000090.4(COL3A1):c.784A>G (p.Met262Val)
|
rs1688161240
|
|
NM_000090.4(COL3A1):c.799-6del
|
rs767927599
|
|
NM_000090.4(COL3A1):c.80-13del
|
rs1688028070
|
|
NM_000090.4(COL3A1):c.80C>A (p.Ala27Asp)
|
rs759521597
|
|
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly)
|
rs1688177791
|
|
NM_000090.4(COL3A1):c.825G>A (p.Lys275=)
|
rs754262933
|
|
NM_000090.4(COL3A1):c.839C>T (p.Ala280Val)
|
rs1422693997
|
|
NM_000090.4(COL3A1):c.842C>A (p.Pro281His)
|
rs794728039
|
|
NM_000090.4(COL3A1):c.852G>A (p.Lys284=)
|
|
|
NM_000090.4(COL3A1):c.853-10A>C
|
rs1688187387
|
|
NM_000090.4(COL3A1):c.853-4C>G
|
rs1559055041
|
|
NM_000090.4(COL3A1):c.853-4C>T
|
rs1559055041
|
|
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.876A>G (p.Glu292=)
|
|
|
NM_000090.4(COL3A1):c.885T>C (p.Ala295=)
|
rs1688188420
|
|
NM_000090.4(COL3A1):c.898-4G>T
|
|
|
NM_000090.4(COL3A1):c.898-8C>T
|
rs766564882
|
|
NM_000090.4(COL3A1):c.902C>T (p.Pro301Leu)
|
rs1273313377
|
|
NM_000090.4(COL3A1):c.904A>G (p.Arg302Gly)
|
|
|
NM_000090.4(COL3A1):c.911C>T (p.Ala304Val)
|
rs730880061
|
|
NM_000090.4(COL3A1):c.927A>G (p.Gly309=)
|
|
|
NM_000090.4(COL3A1):c.931C>T (p.Pro311Ser)
|
rs2153502120
|
|
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser)
|
rs958176385
|
|
NM_000090.4(COL3A1):c.947C>T (p.Ala316Val)
|
rs2153502123
|
|
NM_000090.4(COL3A1):c.952-8C>G
|
rs1688203259
|
|
NM_000090.4(COL3A1):c.958C>T (p.Arg320Trp)
|
rs1386163891
|
|
NM_000090.4(COL3A1):c.959G>A (p.Arg320Gln)
|
rs778179067
|
|
NM_000090.4(COL3A1):c.982A>G (p.Ser328Gly)
|
rs1688204324
|
|
NM_000090.4(COL3A1):c.997-1G>C
|
rs587779687
|
|