NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)
|
rs371583734
|
0.00017
|
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.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00013
|
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His)
|
rs144260440
|
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.838G>A (p.Ala280Thr)
|
rs142042452
|
0.00011
|
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.347T>G (p.Ile116Ser)
|
rs769622439
|
0.00007
|
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn)
|
rs756125442
|
0.00007
|
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.217G>C (p.Asp73His)
|
rs200246388
|
0.00006
|
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu)
|
rs139610730
|
0.00006
|
NM_000090.4(COL3A1):c.3035G>A (p.Arg1012Lys)
|
rs865829661
|
0.00006
|
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln)
|
rs886038983
|
0.00006
|
NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg)
|
rs374537884
|
0.00006
|
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val)
|
rs770168441
|
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.3245G>A (p.Arg1082Gln)
|
rs367754862
|
0.00004
|
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)
|
rs730880062
|
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.929G>A (p.Arg310Gln)
|
rs778497667
|
0.00004
|
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.2022+6A>T
|
rs368117488
|
0.00003
|
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser)
|
rs372027308
|
0.00003
|
NM_000090.4(COL3A1):c.2305C>T (p.Pro769Ser)
|
rs746504108
|
0.00003
|
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg)
|
rs778419091
|
0.00003
|
NM_000090.4(COL3A1):c.956C>T (p.Ala319Val)
|
rs754503346
|
0.00003
|
NM_000090.4(COL3A1):c.1283G>A (p.Arg428Gln)
|
rs1021622002
|
0.00002
|
NM_000090.4(COL3A1):c.1525C>T (p.Arg509Cys)
|
rs1485092842
|
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.3001C>G (p.Pro1001Ala)
|
rs777180110
|
0.00002
|
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr)
|
rs775562650
|
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.4073G>A (p.Arg1358Gln)
|
rs745656610
|
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.874G>A (p.Glu292Lys)
|
rs138818489
|
0.00002
|
NM_000090.4(COL3A1):c.923G>A (p.Arg308Gln)
|
rs753589858
|
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.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.1189G>A (p.Glu397Lys)
|
rs187907868
|
0.00001
|
NM_000090.4(COL3A1):c.118G>A (p.Ala40Thr)
|
rs763720540
|
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.1307A>G (p.Lys436Arg)
|
rs751471411
|
0.00001
|
NM_000090.4(COL3A1):c.1333C>T (p.Pro445Ser)
|
rs1688260053
|
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.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.1558G>A (p.Ala520Thr)
|
rs1410374684
|
0.00001
|
NM_000090.4(COL3A1):c.1609-11C>A
|
rs1474506962
|
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.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.1816-6T>G
|
rs1474453319
|
0.00001
|
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser)
|
rs772638774
|
0.00001
|
NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu)
|
rs794728048
|
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.198A>G (p.Ile66Met)
|
rs372269408
|
0.00001
|
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly)
|
rs376603102
|
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.205G>A (p.Asp69Asn)
|
rs112714742
|
0.00001
|
NM_000090.4(COL3A1):c.2220G>A (p.Lys740=)
|
rs541557925
|
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.2665A>T (p.Asn889Tyr)
|
rs761469859
|
0.00001
|
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu)
|
rs1455100373
|
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.2974C>A (p.Arg992Ser)
|
rs1431359737
|
0.00001
|
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala)
|
rs142457159
|
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.3163G>A (p.Val1055Ile)
|
rs747197616
|
0.00001
|
NM_000090.4(COL3A1):c.316G>A (p.Gly106Ser)
|
rs180938313
|
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.3262C>G (p.Gln1088Glu)
|
rs1328301317
|
0.00001
|
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser)
|
rs1464447467
|
0.00001
|
NM_000090.4(COL3A1):c.3344C>G (p.Pro1115Arg)
|
rs1688622334
|
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.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.3643G>A (p.Gly1215Ser)
|
rs767577382
|
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.3935G>A (p.Arg1312Gln)
|
rs772919524
|
0.00001
|
NM_000090.4(COL3A1):c.3964G>A (p.Glu1322Lys)
|
rs149522780
|
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.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.41C>G (p.Ala14Gly)
|
rs1231364424
|
0.00001
|
NM_000090.4(COL3A1):c.4220A>C (p.Lys1407Thr)
|
rs747651283
|
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.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.50A>T (p.His17Leu)
|
rs1311785540
|
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.667C>T (p.Pro223Ser)
|
rs1325737333
|
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.776T>C (p.Phe259Ser)
|
rs1688161034
|
0.00001
|
NM_000090.4(COL3A1):c.785T>C (p.Met262Thr)
|
rs772713162
|
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.884C>T (p.Ala295Val)
|
rs1016767830
|
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.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.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.1149+6T>C
|
|
|
NM_000090.4(COL3A1):c.1195-3T>G
|
rs1688248649
|
|
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.1264A>G (p.Asn422Asp)
|
rs1688252085
|
|
NM_000090.4(COL3A1):c.1265A>G (p.Asn422Ser)
|
|
|
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys)
|
rs150670470
|
|
NM_000090.4(COL3A1):c.1387G>A (p.Glu463Lys)
|
rs2153502439
|
|
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.1472G>C (p.Arg491Pro)
|
|
|
NM_000090.4(COL3A1):c.1480G>T (p.Ala494Ser)
|
rs200866608
|
|
NM_000090.4(COL3A1):c.1507A>G (p.Lys503Glu)
|
rs1688275818
|
|
NM_000090.4(COL3A1):c.1508A>T (p.Lys503Met)
|
|
|
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.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.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.1660C>G (p.Pro554Ala)
|
rs1334678815
|
|
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.1667G>A (p.Ser556Asn)
|
rs1688319466
|
|
NM_000090.4(COL3A1):c.1675G>A (p.Glu559Lys)
|
|
|
NM_000090.4(COL3A1):c.1712C>A (p.Pro571His)
|
rs1688321100
|
|
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.1765G>A (p.Ala589Thr)
|
rs1327158014
|
|
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu)
|
rs1039226542
|
|
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.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.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.1986G>T (p.Lys662Asn)
|
rs1443558947
|
|
NM_000090.4(COL3A1):c.2003C>T (p.Pro668Leu)
|
rs1576467905
|
|
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.2134C>T (p.Pro712Ser)
|
rs1576468303
|
|
NM_000090.4(COL3A1):c.2135C>T (p.Pro712Leu)
|
rs780028064
|
|
NM_000090.4(COL3A1):c.2152_2153delinsTT (p.Ala718Phe)
|
rs2153503026
|
|
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.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.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.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.2588G>A (p.Arg863His)
|
rs755762264
|
|
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.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>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.283C>A (p.Pro95Thr)
|
rs1688039740
|
|
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.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>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.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.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.3100C>A (p.Arg1034Ser)
|
|
|
NM_000090.4(COL3A1):c.3101G>T (p.Arg1034Leu)
|
rs780788248
|
|
NM_000090.4(COL3A1):c.3134C>T (p.Ala1045Val)
|
|
|
NM_000090.4(COL3A1):c.3172G>A (p.Ala1058Thr)
|
rs1576471863
|
|
NM_000090.4(COL3A1):c.3190A>G (p.Arg1064Gly)
|
|
|
NM_000090.4(COL3A1):c.3201+3G>A
|
|
|
NM_000090.4(COL3A1):c.320C>G (p.Pro107Arg)
|
rs1559052813
|
|
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.3255+11_3255+20dup
|
|
|
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.3317A>G (p.Lys1106Arg)
|
|
|
NM_000090.4(COL3A1):c.3323A>G (p.His1108Arg)
|
rs1688621770
|
|
NM_000090.4(COL3A1):c.3341A>G (p.Asn1114Ser)
|
|
|
NM_000090.4(COL3A1):c.3363+4A>C
|
|
|
NM_000090.4(COL3A1):c.3367C>G (p.Pro1123Ala)
|
|
|
NM_000090.4(COL3A1):c.3388A>G (p.Ile1130Val)
|
|
|
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.3476C>T (p.Pro1159Leu)
|
rs1378423439
|
|
NM_000090.4(COL3A1):c.3478A>G (p.Ile1160Val)
|
rs1688636735
|
|
NM_000090.4(COL3A1):c.3525+5G>A
|
rs2153503988
|
|
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.3574_3582del (p.Ala1192_Gly1194del)
|
rs2153504077
|
|
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.3658T>A (p.Tyr1220Asn)
|
rs1688661231
|
|
NM_000090.4(COL3A1):c.3670C>T (p.Pro1224Ser)
|
|
|
NM_000090.4(COL3A1):c.3676G>A (p.Asp1226Asn)
|
rs1453881906
|
|
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.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.3824-13T>G
|
rs1000595244
|
|
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>C (p.Lys1291Asn)
|
|
|
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.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.3969G>C (p.Lys1323Asn)
|
rs2153504249
|
|
NM_000090.4(COL3A1):c.3996G>A (p.Met1332Ile)
|
|
|
NM_000090.4(COL3A1):c.4046T>C (p.Val1349Ala)
|
|
|
NM_000090.4(COL3A1):c.4066T>G (p.Phe1356Val)
|
rs945183835
|
|
NM_000090.4(COL3A1):c.4088G>A (p.Arg1363Gln)
|
rs1227282800
|
|
NM_000090.4(COL3A1):c.4135A>T (p.Met1379Leu)
|
rs1060500196
|
|
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.4226C>G (p.Thr1409Ser)
|
rs1688708929
|
|
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.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.4306G>C (p.Ala1436Pro)
|
rs148015311
|
|
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.4384C>A (p.Pro1462Thr)
|
rs1688732943
|
|
NM_000090.4(COL3A1):c.446A>T (p.Gln149Leu)
|
|
|
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.542C>T (p.Pro181Leu)
|
rs746628029
|
|
NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala)
|
rs1300339107
|
|
NM_000090.4(COL3A1):c.55A>T (p.Thr19Ser)
|
|
|
NM_000090.4(COL3A1):c.582+4_582+7dup
|
|
|
NM_000090.4(COL3A1):c.583-14A>T
|
|
|
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.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.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.80C>A (p.Ala27Asp)
|
rs759521597
|
|
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly)
|
rs1688177791
|
|
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.86_88del (p.Glu29del)
|
rs1559052566
|
|
NM_000090.4(COL3A1):c.898-4G>T
|
|
|
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.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.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
|
|