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.2092G>A (p.Ala698Thr)
|
rs1800255
|
0.21080
|
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.3525+19del
|
rs138061246
|
0.01120
|
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.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.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.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.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.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.1854A>T (p.Gly618=)
|
rs370034518
|
0.00012
|
NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=)
|
rs146837092
|
0.00012
|
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.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.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
NM_000090.4(COL3A1):c.3694G>A (p.Asp1232Asn)
|
rs147663769
|
0.00009
|
NM_000090.4(COL3A1):c.3630T>G (p.Gly1210=)
|
rs771034601
|
0.00008
|
NM_000090.4(COL3A1):c.4026T>C (p.Asn1342=)
|
rs147250987
|
0.00007
|
NM_000090.4(COL3A1):c.1128C>T (p.His376=)
|
rs771015742
|
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.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.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.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.3336T>C (p.Pro1112=)
|
rs749357239
|
0.00004
|
NM_000090.4(COL3A1):c.3433A>G (p.Ser1145Gly)
|
rs147706051
|
0.00004
|
NM_000090.4(COL3A1):c.1472G>A (p.Arg491Gln)
|
rs774551212
|
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.2038C>T (p.Pro680Ser)
|
rs372027308
|
0.00003
|
NM_000090.4(COL3A1):c.2274T>C (p.Asp758=)
|
rs1060503872
|
0.00003
|
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=)
|
rs794727586
|
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.39C>T (p.Leu13=)
|
rs1343634872
|
0.00003
|
NM_000090.4(COL3A1):c.1473A>C (p.Arg491=)
|
rs759650260
|
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.1996G>A (p.Gly666Ser)
|
rs755528878
|
0.00002
|
NM_000090.4(COL3A1):c.2109C>T (p.Pro703=)
|
rs746947080
|
0.00002
|
NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser)
|
rs771671892
|
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.3145C>A (p.Pro1049Thr)
|
rs775562650
|
0.00002
|
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=)
|
rs766750333
|
0.00002
|
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln)
|
rs745656610
|
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.696A>G (p.Glu232=)
|
rs193922177
|
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.1109A>G (p.Glu370Gly)
|
rs748323501
|
0.00001
|
NM_000090.4(COL3A1):c.1149+3A>G
|
rs1466133249
|
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.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.1496T>C (p.Ile499Thr)
|
rs1001748912
|
0.00001
|
NM_000090.4(COL3A1):c.1524G>A (p.Glu508=)
|
rs761742677
|
0.00001
|
NM_000090.4(COL3A1):c.1557A>C (p.Gly519=)
|
rs754318905
|
0.00001
|
NM_000090.4(COL3A1):c.1657C>T (p.Pro553Ser)
|
rs752163277
|
0.00001
|
NM_000090.4(COL3A1):c.1761+6T>C
|
rs189483688
|
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.1819C>G (p.Pro607Ala)
|
rs376525602
|
0.00001
|
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser)
|
rs772638774
|
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.198A>G (p.Ile66Met)
|
rs372269408
|
0.00001
|
NM_000090.4(COL3A1):c.204C>T (p.Asp68=)
|
rs368299739
|
0.00001
|
NM_000090.4(COL3A1):c.2310T>G (p.Pro770=)
|
rs1321267556
|
0.00001
|
NM_000090.4(COL3A1):c.2511C>A (p.Gly837=)
|
rs1157152697
|
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.267A>G (p.Pro89=)
|
rs998965783
|
0.00001
|
NM_000090.4(COL3A1):c.2709G>A (p.Gly903=)
|
rs1057524521
|
0.00001
|
NM_000090.4(COL3A1):c.2766A>C (p.Pro922=)
|
rs915948354
|
0.00001
|
NM_000090.4(COL3A1):c.2773G>A (p.Asp925Asn)
|
rs929526823
|
0.00001
|
NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu)
|
rs780260944
|
0.00001
|
NM_000090.4(COL3A1):c.2904G>A (p.Arg968=)
|
rs780866547
|
0.00001
|
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala)
|
rs142457159
|
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.3440C>T (p.Pro1147Leu)
|
rs889877870
|
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.3606C>T (p.Ala1202=)
|
rs755573602
|
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.3793C>A (p.Leu1265Met)
|
rs200052168
|
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.4003G>A (p.Gly1335Ser)
|
rs751807135
|
0.00001
|
NM_000090.4(COL3A1):c.4080C>G (p.Leu1360=)
|
rs771682647
|
0.00001
|
NM_000090.4(COL3A1):c.4165G>T (p.Ala1389Ser)
|
rs202022204
|
0.00001
|
NM_000090.4(COL3A1):c.4220A>C (p.Lys1407Thr)
|
rs747651283
|
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.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.4394T>G (p.Phe1465Cys)
|
rs1553510018
|
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.515A>C (p.Tyr172Ser)
|
rs771654029
|
0.00001
|
NM_000090.4(COL3A1):c.531C>A (p.Gly177=)
|
rs41272797
|
0.00001
|
NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser)
|
rs771858477
|
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.891A>C (p.Gly297=)
|
rs751603655
|
0.00001
|
NM_000090.4(COL3A1):c.897+4A>G
|
rs886039191
|
0.00001
|
NM_000090.4(COL3A1):c.945G>A (p.Gly315=)
|
rs372206736
|
0.00001
|
NM_000090.4(COL3A1):c.1011T>A (p.Pro337=)
|
rs779333642
|
|
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg)
|
rs794728040
|
|
NM_000090.4(COL3A1):c.1056dup (p.Val353fs)
|
|
|
NM_000090.4(COL3A1):c.1079G>A (p.Gly360Asp)
|
|
|
NM_000090.4(COL3A1):c.1102A>G (p.Arg368Gly)
|
rs2153502282
|
|
NM_000090.4(COL3A1):c.1149+5G>A
|
rs587779538
|
|
NM_000090.4(COL3A1):c.1150-3T>G
|
|
|
NM_000090.4(COL3A1):c.1186G>A (p.Gly396Ser)
|
|
|
NM_000090.4(COL3A1):c.1198C>T (p.Pro400Ser)
|
rs1229093142
|
|
NM_000090.4(COL3A1):c.121G>A (p.Asp41Asn)
|
rs794728035
|
|
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg)
|
rs587779534
|
|
NM_000090.4(COL3A1):c.1232G>A (p.Gly411Glu)
|
rs886038816
|
|
NM_000090.4(COL3A1):c.123T>C (p.Asp41=)
|
rs770961095
|
|
NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp)
|
rs794728044
|
|
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)
|
rs587779692
|
|
NM_000090.4(COL3A1):c.1268G>C (p.Gly423Ala)
|
|
|
NM_000090.4(COL3A1):c.1275T>C (p.Pro425=)
|
|
|
NM_000090.4(COL3A1):c.1280T>A (p.Leu427Gln)
|
|
|
NM_000090.4(COL3A1):c.1287T>C (p.Gly429=)
|
|
|
NM_000090.4(COL3A1):c.1294G>A (p.Gly432Ser)
|
rs794728045
|
|
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp)
|
rs1688258933
|
|
NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser)
|
rs886038952
|
|
NM_000090.4(COL3A1):c.1303G>T (p.Gly435Cys)
|
rs886038952
|
|
NM_000090.4(COL3A1):c.1304G>A (p.Gly435Asp)
|
|
|
NM_000090.4(COL3A1):c.1311T>C (p.Asn437=)
|
|
|
NM_000090.4(COL3A1):c.1337G>A (p.Arg446His)
|
rs149852181
|
|
NM_000090.4(COL3A1):c.1347+1G>A
|
rs397509370
|
|
NM_000090.4(COL3A1):c.1348-4del
|
rs758567906
|
|
NM_000090.4(COL3A1):c.1348-5_1348-4del
|
rs758567906
|
|
NM_000090.4(COL3A1):c.1386C>T (p.Gly462=)
|
|
|
NM_000090.4(COL3A1):c.1421G>T (p.Gly474Val)
|
rs1553507991
|
|
NM_000090.4(COL3A1):c.1457G>T (p.Gly486Val)
|
rs1688274077
|
|
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.1500A>G (p.Pro500=)
|
|
|
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg)
|
rs142085247
|
|
NM_000090.4(COL3A1):c.1604T>G (p.Met535Arg)
|
|
|
NM_000090.4(COL3A1):c.1608+1G>A
|
|
|
NM_000090.4(COL3A1):c.1662+1G>A
|
rs587779535
|
|
NM_000090.4(COL3A1):c.1662C>G (p.Pro554=)
|
rs373963384
|
|
NM_000090.4(COL3A1):c.1676A>T (p.Glu559Val)
|
|
|
NM_000090.4(COL3A1):c.1701G>T (p.Gly567=)
|
|
|
NM_000090.4(COL3A1):c.1709G>A (p.Gly570Asp)
|
rs2153502685
|
|
NM_000090.4(COL3A1):c.1719T>A (p.Gly573=)
|
|
|
NM_000090.4(COL3A1):c.1727G>A (p.Gly576Asp)
|
rs886038853
|
|
NM_000090.4(COL3A1):c.1761+5G>A
|
rs397509372
|
|
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.1818T>G (p.Gly606=)
|
|
|
NM_000090.4(COL3A1):c.1819C>A (p.Pro607Thr)
|
|
|
NM_000090.4(COL3A1):c.1836T>C (p.Gly612=)
|
rs1576467117
|
|
NM_000090.4(COL3A1):c.183C>G (p.Leu61=)
|
|
|
NM_000090.4(COL3A1):c.1853G>A (p.Gly618Glu)
|
|
|
NM_000090.4(COL3A1):c.1862_1869+5del
|
|
|
NM_000090.4(COL3A1):c.1867A>G (p.Thr623Ala)
|
|
|
NM_000090.4(COL3A1):c.1870-2A>G
|
rs587779575
|
|
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu)
|
rs1553508463
|
|
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser)
|
rs762129273
|
|
NM_000090.4(COL3A1):c.1905T>C (p.Pro635=)
|
|
|
NM_000090.4(COL3A1):c.1957A>T (p.Asn653Tyr)
|
|
|
NM_000090.4(COL3A1):c.1958A>G (p.Asn653Ser)
|
rs2153502903
|
|
NM_000090.4(COL3A1):c.1987G>A (p.Gly663Ser)
|
rs587779433
|
|
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.2012C>T (p.Pro671Leu)
|
|
|
NM_000090.4(COL3A1):c.2022+4G>A
|
rs886038865
|
|
NM_000090.4(COL3A1):c.205G>T (p.Asp69Tyr)
|
rs112714742
|
|
NM_000090.4(COL3A1):c.2069G>A (p.Gly690Glu)
|
rs587779458
|
|
NM_000090.4(COL3A1):c.2096G>A (p.Gly699Asp)
|
rs587779706
|
|
NM_000090.4(COL3A1):c.2109C>A (p.Pro703=)
|
|
|
NM_000090.4(COL3A1):c.2114_2121+2del
|
rs1688402212
|
|
NM_000090.4(COL3A1):c.2123G>A (p.Gly708Asp)
|
|
|
NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser)
|
rs587779695
|
|
NM_000090.4(COL3A1):c.2199del (p.Gly735fs)
|
|
|
NM_000090.4(COL3A1):c.2212G>C (p.Gly738Arg)
|
|
|
NM_000090.4(COL3A1):c.2221G>T (p.Gly741Cys)
|
rs587779685
|
|
NM_000090.4(COL3A1):c.2226C>T (p.Asp742=)
|
|
|
NM_000090.4(COL3A1):c.2229+1G>A
|
rs1576468385
|
|
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)
|
|
|
NM_000090.4(COL3A1):c.2234A>T (p.Glu745Val)
|
|
|
NM_000090.4(COL3A1):c.2247A>G (p.Pro749=)
|
rs1553508706
|
|
NM_000090.4(COL3A1):c.225C>A (p.Pro75=)
|
rs141335164
|
|
NM_000090.4(COL3A1):c.2284G>T (p.Gly762Cys)
|
|
|
NM_000090.4(COL3A1):c.2285G>A (p.Gly762Asp)
|
rs587779541
|
|
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=)
|
rs587779461
|
|
NM_000090.4(COL3A1):c.2484G>T (p.Gly828=)
|
|
|
NM_000090.4(COL3A1):c.2489C>G (p.Pro830Arg)
|
|
|
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.2519G>T (p.Gly840Val)
|
rs886038895
|
|
NM_000090.4(COL3A1):c.2556T>C (p.Gly852=)
|
|
|
NM_000090.4(COL3A1):c.2606C>A (p.Pro869His)
|
rs794728052
|
|
NM_000090.4(COL3A1):c.2642del (p.Pro881fs)
|
rs886038920
|
|
NM_000090.4(COL3A1):c.2717G>A (p.Gly906Asp)
|
|
|
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val)
|
rs144036995
|
|
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.2801C>T (p.Ser934Leu)
|
rs753621331
|
|
NM_000090.4(COL3A1):c.2832A>G (p.Pro944=)
|
|
|
NM_000090.4(COL3A1):c.2853G>A (p.Gly951=)
|
|
|
NM_000090.4(COL3A1):c.2899C>A (p.Pro967Thr)
|
|
|
NM_000090.4(COL3A1):c.2924G>C (p.Gly975Ala)
|
|
|
NM_000090.4(COL3A1):c.2927T>C (p.Val976Ala)
|
rs886038939
|
|
NM_000090.4(COL3A1):c.2959G>A (p.Gly987Ser)
|
rs587779583
|
|
NM_000090.4(COL3A1):c.2967T>C (p.Ser989=)
|
|
|
NM_000090.4(COL3A1):c.2986G>A (p.Gly996Arg)
|
rs2153503634
|
|
NM_000090.4(COL3A1):c.3001C>T (p.Pro1001Ser)
|
rs777180110
|
|
NM_000090.4(COL3A1):c.300T>G (p.Asn100Lys)
|
rs776373729
|
|
NM_000090.4(COL3A1):c.3040G>A (p.Gly1014Arg)
|
rs1553509391
|
|
NM_000090.4(COL3A1):c.3070C>G (p.Arg1024Gly)
|
|
|
NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter)
|
rs587779479
|
|
NM_000090.4(COL3A1):c.3093+5A>G
|
rs1688583785
|
|
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser)
|
rs587779704
|
|
NM_000090.4(COL3A1):c.3126C>T (p.Ala1042=)
|
rs1576471813
|
|
NM_000090.4(COL3A1):c.3145C>G (p.Pro1049Ala)
|
rs775562650
|
|
NM_000090.4(COL3A1):c.314A>G (p.Gln105Arg)
|
|
|
NM_000090.4(COL3A1):c.3154C>T (p.Pro1052Ser)
|
rs2153503729
|
|
NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp)
|
rs587779540
|
|
NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg)
|
rs587779563
|
|
NM_000090.4(COL3A1):c.3198A>C (p.Glu1066Asp)
|
|
|
NM_000090.4(COL3A1):c.3200G>A (p.Ser1067Asn)
|
rs886039067
|
|
NM_000090.4(COL3A1):c.3205C>T (p.Pro1069Ser)
|
rs200122671
|
|
NM_000090.4(COL3A1):c.3217G>A (p.Ala1073Thr)
|
rs1553509489
|
|
NM_000090.4(COL3A1):c.3219T>C (p.Ala1073=)
|
|
|
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser)
|
rs886038892
|
|
NM_000090.4(COL3A1):c.3240T>C (p.Gly1080=)
|
|
|
NM_000090.4(COL3A1):c.3252T>C (p.Ala1084=)
|
|
|
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)
|
rs112371422
|
|
NM_000090.4(COL3A1):c.333+2T>G
|
|
|
NM_000090.4(COL3A1):c.333+4A>G
|
rs1688041454
|
|
NM_000090.4(COL3A1):c.3374G>A (p.Gly1125Asp)
|
|
|
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.3411C>G (p.Gly1137=)
|
|
|
NM_000090.4(COL3A1):c.343G>T (p.Gly115Cys)
|
rs964468427
|
|
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.3500_3501delinsAA (p.Gly1167Glu)
|
rs886038925
|
|
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser)
|
rs587779482
|
|
NM_000090.4(COL3A1):c.3525G>A (p.Glu1175=)
|
|
|
NM_000090.4(COL3A1):c.3558T>C (p.Pro1186=)
|
|
|
NM_000090.4(COL3A1):c.3562G>A (p.Gly1188Arg)
|
rs587779504
|
|
NM_000090.4(COL3A1):c.3565C>G (p.Pro1189Ala)
|
|
|
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser)
|
rs1324996402
|
|
NM_000090.4(COL3A1):c.3590G>C (p.Cys1197Ser)
|
|
|
NM_000090.4(COL3A1):c.3689del (p.Asn1230fs)
|
|
|
NM_000090.4(COL3A1):c.3693C>T (p.Thr1231=)
|
rs368556405
|
|
NM_000090.4(COL3A1):c.3696T>C (p.Asp1232=)
|
rs1332611074
|
|
NM_000090.4(COL3A1):c.3806A>G (p.His1269Arg)
|
rs751092650
|
|
NM_000090.4(COL3A1):c.3816C>T (p.Leu1272=)
|
rs754340753
|
|
NM_000090.4(COL3A1):c.3882T>C (p.Cys1294=)
|
rs1033051824
|
|
NM_000090.4(COL3A1):c.3915C>T (p.Ala1305=)
|
|
|
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.3966G>A (p.Glu1322=)
|
rs560861999
|
|
NM_000090.4(COL3A1):c.3966_3972delinsTT (p.Glu1322fs)
|
rs1553509869
|
|
NM_000090.4(COL3A1):c.3982_3986dup (p.Glu1330fs)
|
|
|
NM_000090.4(COL3A1):c.3989A>G (p.Glu1330Gly)
|
|
|
NM_000090.4(COL3A1):c.3990G>A (p.Glu1330=)
|
|
|
NM_000090.4(COL3A1):c.4012-6T>C
|
|
|
NM_000090.4(COL3A1):c.4032A>G (p.Glu1344=)
|
|
|
NM_000090.4(COL3A1):c.4065A>G (p.Ala1355=)
|
rs778893289
|
|
NM_000090.4(COL3A1):c.4080C>T (p.Leu1360=)
|
rs771682647
|
|
NM_000090.4(COL3A1):c.4155T>C (p.Asn1385=)
|
rs2153504334
|
|
NM_000090.4(COL3A1):c.4215T>C (p.Asn1405=)
|
rs1553509938
|
|
NM_000090.4(COL3A1):c.4261A>T (p.Thr1421Ser)
|
|
|
NM_000090.4(COL3A1):c.4266G>A (p.Gly1422=)
|
rs1553509998
|
|
NM_000090.4(COL3A1):c.4275C>T (p.Ser1425=)
|
|
|
NM_000090.4(COL3A1):c.4283T>C (p.Val1428Ala)
|
|
|
NM_000090.4(COL3A1):c.4290A>G (p.Glu1430=)
|
|
|
NM_000090.4(COL3A1):c.4296A>G (p.Arg1432=)
|
|
|
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.4344C>T (p.Asp1448=)
|
|
|
NM_000090.4(COL3A1):c.4353T>C (p.Gly1451=)
|
rs112729086
|
|
NM_000090.4(COL3A1):c.4377C>T (p.Asp1459=)
|
rs754741078
|
|
NM_000090.4(COL3A1):c.448-1G>T
|
rs1688078187
|
|
NM_000090.4(COL3A1):c.458C>G (p.Pro153Arg)
|
|
|
NM_000090.4(COL3A1):c.491T>C (p.Val164Ala)
|
|
|
NM_000090.4(COL3A1):c.528+5G>A
|
rs794728038
|
|
NM_000090.4(COL3A1):c.528+5G>T
|
|
|
NM_000090.4(COL3A1):c.52C>T (p.Pro18Ser)
|
rs886038951
|
|
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)
|
rs121912926
|
|
NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg)
|
rs886038977
|
|
NM_000090.4(COL3A1):c.576T>C (p.Gly192=)
|
|
|
NM_000090.4(COL3A1):c.582+2_582+16del
|
|
|
NM_000090.4(COL3A1):c.582+4_582+7dup
|
|
|
NM_000090.4(COL3A1):c.582+5G>A
|
rs587779671
|
|
NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp)
|
rs587779626
|
|
NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp)
|
rs2153501864
|
|
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu)
|
rs587779596
|
|
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.674G>C (p.Gly225Ala)
|
rs587779533
|
|
NM_000090.4(COL3A1):c.690T>C (p.Asp230=)
|
|
|
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.712C>T (p.Arg238Ter)
|
rs1393544920
|
|
NM_000090.4(COL3A1):c.743C>T (p.Pro248Leu)
|
|
|
NM_000090.4(COL3A1):c.77A>G (p.Glu26Gly)
|
|
|
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu)
|
rs587779604
|
|
NM_000090.4(COL3A1):c.805G>A (p.Asp269Asn)
|
|
|
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu)
|
rs587779478
|
|
NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter)
|
rs1057521106
|
|
NM_000090.4(COL3A1):c.834A>T (p.Thr278=)
|
|
|
NM_000090.4(COL3A1):c.842C>A (p.Pro281His)
|
rs794728039
|
|
NM_000090.4(COL3A1):c.898-2A>G
|
rs1553507574
|
|
NM_000090.4(COL3A1):c.941C>G (p.Pro314Arg)
|
|
|
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)
|
rs587779650
|
|
NM_000090.4(COL3A1):c.973G>T (p.Ala325Ser)
|
|
|
NM_000090.4(COL3A1):c.997-1G>C
|
rs587779687
|
|
NM_000090.4(COL3A1):c.9C>A (p.Ser3Arg)
|
|
|