NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)
|
rs139851311
|
0.00066
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=)
|
rs150670521
|
0.00025
|
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser)
|
rs370608825
|
0.00024
|
NM_000089.4(COL1A2):c.945C>T (p.Pro315=)
|
rs147058179
|
0.00024
|
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser)
|
rs41317144
|
0.00017
|
NM_000089.3(COL1A2):c.-428G>A
|
rs753974789
|
0.00016
|
NM_000089.4(COL1A2):c.1464G>T (p.Glu488Asp)
|
rs148802548
|
0.00013
|
NM_000089.4(COL1A2):c.*545A>G
|
rs761806166
|
0.00012
|
NM_000089.4(COL1A2):c.2566-6A>G
|
rs141088934
|
0.00012
|
NM_000089.4(COL1A2):c.2905G>A (p.Val969Met)
|
rs765448220
|
0.00011
|
NM_000089.4(COL1A2):c.2969C>A (p.Ala990Asp)
|
rs1014550811
|
0.00011
|
NM_000089.4(COL1A2):c.2717G>A (p.Arg906His)
|
rs147063981
|
0.00010
|
NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=)
|
rs745413783
|
0.00010
|
NM_000089.4(COL1A2):c.2275G>A (p.Val759Ile)
|
rs200501072
|
0.00009
|
NM_000089.4(COL1A2):c.2500G>A (p.Val834Ile)
|
rs150993338
|
0.00009
|
NM_000089.4(COL1A2):c.2645G>A (p.Arg882His)
|
rs140368271
|
0.00009
|
NM_000089.4(COL1A2):c.3077A>G (p.Asn1026Ser)
|
rs369457688
|
0.00009
|
NM_000089.4(COL1A2):c.395G>A (p.Arg132His)
|
rs372678526
|
0.00009
|
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His)
|
rs773985005
|
0.00008
|
NM_000089.4(COL1A2):c.2968G>T (p.Ala990Ser)
|
rs367848162
|
0.00008
|
NM_000089.4(COL1A2):c.3676G>A (p.Val1226Ile)
|
rs777501717
|
0.00008
|
NM_000089.4(COL1A2):c.*131G>T
|
rs777448399
|
0.00007
|
NM_000089.4(COL1A2):c.1036-3T>C
|
rs370275593
|
0.00007
|
NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu)
|
rs149858889
|
0.00007
|
NM_000089.4(COL1A2):c.1566A>G (p.Pro522=)
|
rs749869789
|
0.00006
|
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met)
|
rs374878685
|
0.00006
|
NM_000089.4(COL1A2):c.2465G>A (p.Arg822His)
|
rs1800240
|
0.00006
|
NM_000089.4(COL1A2):c.2527G>A (p.Ala843Thr)
|
rs112697991
|
0.00006
|
NM_000089.4(COL1A2):c.2642A>C (p.Glu881Ala)
|
rs751201659
|
0.00006
|
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His)
|
rs201168934
|
0.00006
|
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)
|
rs377278762
|
0.00006
|
NM_000089.4(COL1A2):c.3368G>T (p.Arg1123Leu)
|
rs145541630
|
0.00006
|
NM_000089.4(COL1A2):c.3632T>C (p.Ile1211Thr)
|
rs201746779
|
0.00006
|
NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg)
|
rs200278401
|
0.00006
|
NM_000089.4(COL1A2):c.671G>A (p.Arg224His)
|
rs771139732
|
0.00006
|
NM_000089.4(COL1A2):c.949G>A (p.Val317Ile)
|
rs142803502
|
0.00006
|
NM_000089.4(COL1A2):c.1268G>A (p.Arg423His)
|
rs764780528
|
0.00005
|
NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp)
|
rs151256720
|
0.00005
|
NM_000089.4(COL1A2):c.1880T>C (p.Val627Ala)
|
rs760732696
|
0.00005
|
NM_000089.4(COL1A2):c.3691A>G (p.Thr1231Ala)
|
rs201560619
|
0.00005
|
NM_000089.4(COL1A2):c.382C>T (p.Pro128Ser)
|
rs774774401
|
0.00005
|
NM_000089.4(COL1A2):c.3870C>T (p.Val1290=)
|
rs926855674
|
0.00005
|
NM_000089.4(COL1A2):c.3938T>C (p.Leu1313Pro)
|
rs780400987
|
0.00005
|
NM_000089.4(COL1A2):c.701G>A (p.Arg234His)
|
rs376341785
|
0.00005
|
NM_000089.4(COL1A2):c.1051G>A (p.Ala351Thr)
|
rs755610740
|
0.00004
|
NM_000089.4(COL1A2):c.106G>A (p.Gly36Arg)
|
rs368447157
|
0.00004
|
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His)
|
rs193922159
|
0.00004
|
NM_000089.4(COL1A2):c.1448C>A (p.Ala483Asp)
|
rs414408
|
0.00004
|
NM_000089.4(COL1A2):c.220G>A (p.Gly74Ser)
|
rs776365460
|
0.00004
|
NM_000089.4(COL1A2):c.2813G>A (p.Arg938His)
|
rs746504964
|
0.00004
|
NM_000089.4(COL1A2):c.286A>G (p.Met96Val)
|
rs763509640
|
0.00004
|
NM_000089.4(COL1A2):c.3100A>G (p.Ile1034Val)
|
rs746794922
|
0.00004
|
NM_000089.4(COL1A2):c.3473A>C (p.Asn1158Thr)
|
rs1034555044
|
0.00004
|
NM_000089.4(COL1A2):c.3647G>T (p.Trp1216Leu)
|
rs1023594853
|
0.00004
|
NM_000089.4(COL1A2):c.378+6T>C
|
rs752336890
|
0.00004
|
NM_000089.4(COL1A2):c.3835A>G (p.Met1279Val)
|
rs775850964
|
0.00004
|
NM_000089.4(COL1A2):c.4048G>A (p.Gly1350Ser)
|
rs193922170
|
0.00004
|
NM_000089.4(COL1A2):c.644C>T (p.Ala215Val)
|
rs753438416
|
0.00004
|
NM_000089.4(COL1A2):c.727G>A (p.Val243Met)
|
rs764373659
|
0.00004
|
NM_000089.4(COL1A2):c.980G>A (p.Arg327His)
|
rs764174111
|
0.00004
|
NM_000089.4(COL1A2):c.*584A>T
|
rs1469558350
|
0.00003
|
NM_000089.4(COL1A2):c.*601A>G
|
rs1031022615
|
0.00003
|
NM_000089.4(COL1A2):c.1402G>A (p.Val468Ile)
|
rs770497661
|
0.00003
|
NM_000089.4(COL1A2):c.1536T>G (p.His512Gln)
|
rs200231086
|
0.00003
|
NM_000089.4(COL1A2):c.1556G>A (p.Arg519Gln)
|
rs201768205
|
0.00003
|
NM_000089.4(COL1A2):c.1690G>A (p.Ala564Thr)
|
rs41317153
|
0.00003
|
NM_000089.4(COL1A2):c.1804C>T (p.Pro602Ser)
|
rs906800567
|
0.00003
|
NM_000089.4(COL1A2):c.1870C>G (p.Pro624Ala)
|
rs886062517
|
0.00003
|
NM_000089.4(COL1A2):c.2380C>T (p.Arg794Trp)
|
rs759251034
|
0.00003
|
NM_000089.4(COL1A2):c.2489G>A (p.Arg830Gln)
|
rs768513176
|
0.00003
|
NM_000089.4(COL1A2):c.2644C>T (p.Arg882Cys)
|
rs1204085246
|
0.00003
|
NM_000089.4(COL1A2):c.2842C>A (p.Arg948Ser)
|
rs779303344
|
0.00003
|
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His)
|
rs200357942
|
0.00003
|
NM_000089.4(COL1A2):c.3239G>A (p.Arg1080Gln)
|
rs751898427
|
0.00003
|
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala)
|
rs761465504
|
0.00003
|
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys)
|
rs1206388800
|
0.00003
|
NM_000089.4(COL1A2):c.1048C>T (p.Pro350Ser)
|
rs201463779
|
0.00002
|
NM_000089.4(COL1A2):c.1331C>T (p.Pro444Leu)
|
rs772238510
|
0.00002
|
NM_000089.4(COL1A2):c.1404+4A>C
|
rs369907691
|
0.00002
|
NM_000089.4(COL1A2):c.1976A>G (p.Glu659Gly)
|
rs766488808
|
0.00002
|
NM_000089.4(COL1A2):c.2024G>A (p.Arg675His)
|
rs754443174
|
0.00002
|
NM_000089.4(COL1A2):c.2330G>A (p.Arg777His)
|
rs746187799
|
0.00002
|
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His)
|
rs559605075
|
0.00002
|
NM_000089.4(COL1A2):c.2959G>A (p.Val987Ile)
|
rs752207083
|
0.00002
|
NM_000089.4(COL1A2):c.3019G>A (p.Asp1007Asn)
|
rs779934676
|
0.00002
|
NM_000089.4(COL1A2):c.3491G>A (p.Arg1164His)
|
rs764327381
|
0.00002
|
NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn)
|
rs754149044
|
0.00002
|
NM_000089.4(COL1A2):c.4012C>T (p.Arg1338Cys)
|
rs781721538
|
0.00002
|
NM_000089.4(COL1A2):c.4013G>A (p.Arg1338His)
|
rs748714040
|
0.00002
|
NM_000089.4(COL1A2):c.430G>A (p.Asp144Asn)
|
rs981008420
|
0.00002
|
NM_000089.4(COL1A2):c.670C>A (p.Arg224Ser)
|
rs763047559
|
0.00002
|
NM_000089.4(COL1A2):c.781C>A (p.Pro261Thr)
|
rs141075408
|
0.00002
|
NM_000089.3(COL1A2):c.-188C>T
|
rs886062512
|
0.00001
|
NM_000089.4(COL1A2):c.*193C>T
|
rs1025438678
|
0.00001
|
NM_000089.4(COL1A2):c.*465G>T
|
rs937283468
|
0.00001
|
NM_000089.4(COL1A2):c.*814A>G
|
rs1584334060
|
0.00001
|
NM_000089.4(COL1A2):c.1006G>T (p.Ala336Ser)
|
rs757569298
|
0.00001
|
NM_000089.4(COL1A2):c.1015A>G (p.Thr339Ala)
|
rs374718116
|
0.00001
|
NM_000089.4(COL1A2):c.105C>T (p.Ala35=)
|
rs533917998
|
0.00001
|
NM_000089.4(COL1A2):c.1076A>G (p.Asn359Ser)
|
rs755584404
|
0.00001
|
NM_000089.4(COL1A2):c.1089C>T (p.Pro363=)
|
rs748961276
|
0.00001
|
NM_000089.4(COL1A2):c.1113T>C (p.Pro371=)
|
rs547506739
|
0.00001
|
NM_000089.4(COL1A2):c.1159G>C (p.Ala387Pro)
|
rs972825197
|
0.00001
|
NM_000089.4(COL1A2):c.1168G>C (p.Ala390Pro)
|
rs763560185
|
0.00001
|
NM_000089.4(COL1A2):c.118C>A (p.Pro40Thr)
|
rs1363689462
|
0.00001
|
NM_000089.4(COL1A2):c.1195A>G (p.Arg399Gly)
|
rs1213766484
|
0.00001
|
NM_000089.4(COL1A2):c.1214G>A (p.Arg405His)
|
rs368702549
|
0.00001
|
NM_000089.4(COL1A2):c.121C>T (p.Arg41Cys)
|
rs769457034
|
0.00001
|
NM_000089.4(COL1A2):c.1267C>T (p.Arg423Cys)
|
rs1270445631
|
0.00001
|
NM_000089.4(COL1A2):c.1318C>T (p.Arg440Cys)
|
rs754825427
|
0.00001
|
NM_000089.4(COL1A2):c.1319G>A (p.Arg440His)
|
rs141677005
|
0.00001
|
NM_000089.4(COL1A2):c.132+3G>A
|
rs1262984429
|
0.00001
|
NM_000089.4(COL1A2):c.133-15C>G
|
rs992330364
|
0.00001
|
NM_000089.4(COL1A2):c.1354C>T (p.Leu452Phe)
|
rs780096548
|
0.00001
|
NM_000089.4(COL1A2):c.1404C>T (p.Val468=)
|
rs773852385
|
0.00001
|
NM_000089.4(COL1A2):c.1412C>T (p.Pro471Leu)
|
rs760503549
|
0.00001
|
NM_000089.4(COL1A2):c.1439T>C (p.Ile480Thr)
|
rs568201784
|
0.00001
|
NM_000089.4(COL1A2):c.1516A>C (p.Lys506Gln)
|
rs1037367793
|
0.00001
|
NM_000089.4(COL1A2):c.1573G>T (p.Asp525Tyr)
|
rs147074348
|
0.00001
|
NM_000089.4(COL1A2):c.1607C>T (p.Pro536Leu)
|
rs1456907715
|
0.00001
|
NM_000089.4(COL1A2):c.1611+9T>A
|
rs200333208
|
0.00001
|
NM_000089.4(COL1A2):c.1654C>T (p.Pro552Ser)
|
rs763695362
|
0.00001
|
NM_000089.4(COL1A2):c.1686T>A (p.Gly562=)
|
rs1394933873
|
0.00001
|
NM_000089.4(COL1A2):c.1780C>G (p.Pro594Ala)
|
rs1396856908
|
0.00001
|
NM_000089.4(COL1A2):c.1817T>C (p.Ile606Thr)
|
rs757262502
|
0.00001
|
NM_000089.4(COL1A2):c.1844C>T (p.Pro615Leu)
|
rs780264582
|
0.00001
|
NM_000089.4(COL1A2):c.1915A>G (p.Ser639Gly)
|
rs766541995
|
0.00001
|
NM_000089.4(COL1A2):c.1930G>A (p.Glu644Lys)
|
rs143178652
|
0.00001
|
NM_000089.4(COL1A2):c.1971+5G>A
|
rs375027186
|
0.00001
|
NM_000089.4(COL1A2):c.1971+6T>C
|
rs1345215762
|
0.00001
|
NM_000089.4(COL1A2):c.2023C>T (p.Arg675Cys)
|
rs778295967
|
0.00001
|
NM_000089.4(COL1A2):c.2050C>T (p.Pro684Ser)
|
rs747954056
|
0.00001
|
NM_000089.4(COL1A2):c.2077C>T (p.Arg693Trp)
|
rs1342960126
|
0.00001
|
NM_000089.4(COL1A2):c.2079+3A>G
|
rs1226079110
|
0.00001
|
NM_000089.4(COL1A2):c.2140C>T (p.Arg714Cys)
|
rs770271259
|
0.00001
|
NM_000089.4(COL1A2):c.2141G>A (p.Arg714His)
|
rs773392397
|
0.00001
|
NM_000089.4(COL1A2):c.2200C>G (p.Gln734Glu)
|
rs774919512
|
0.00001
|
NM_000089.4(COL1A2):c.2255T>G (p.Val752Gly)
|
rs1205884799
|
0.00001
|
NM_000089.4(COL1A2):c.2312C>T (p.Pro771Leu)
|
rs569241110
|
0.00001
|
NM_000089.4(COL1A2):c.2356A>C (p.Thr786Pro)
|
rs774233882
|
0.00001
|
NM_000089.4(COL1A2):c.2372C>T (p.Ala791Val)
|
rs1208084157
|
0.00001
|
NM_000089.4(COL1A2):c.2506G>A (p.Ala836Thr)
|
rs759738995
|
0.00001
|
NM_000089.4(COL1A2):c.256G>C (p.Val86Leu)
|
rs777971816
|
0.00001
|
NM_000089.4(COL1A2):c.2663C>G (p.Ala888Gly)
|
rs752453618
|
0.00001
|
NM_000089.4(COL1A2):c.2696T>C (p.Ile899Thr)
|
rs1245765830
|
0.00001
|
NM_000089.4(COL1A2):c.2732C>G (p.Ala911Gly)
|
rs374901613
|
0.00001
|
NM_000089.4(COL1A2):c.2777G>A (p.Arg926His)
|
rs200331961
|
0.00001
|
NM_000089.4(COL1A2):c.279+12T>C
|
rs751199493
|
0.00001
|
NM_000089.4(COL1A2):c.2797G>A (p.Asp933Asn)
|
rs779358259
|
0.00001
|
NM_000089.4(COL1A2):c.2806C>G (p.Pro936Ala)
|
rs1020235088
|
0.00001
|
NM_000089.4(COL1A2):c.2815G>A (p.Asp939Asn)
|
rs776169837
|
0.00001
|
NM_000089.4(COL1A2):c.287T>A (p.Met96Lys)
|
rs1026230498
|
0.00001
|
NM_000089.4(COL1A2):c.2887C>T (p.Pro963Ser)
|
rs760780128
|
0.00001
|
NM_000089.4(COL1A2):c.292C>T (p.Pro98Ser)
|
rs765868569
|
0.00001
|
NM_000089.4(COL1A2):c.2932C>T (p.Arg978Cys)
|
rs145633247
|
0.00001
|
NM_000089.4(COL1A2):c.2944-3C>T
|
rs1408725826
|
0.00001
|
NM_000089.4(COL1A2):c.2993C>T (p.Pro998Leu)
|
rs1204582322
|
0.00001
|
NM_000089.4(COL1A2):c.300C>T (p.Gly100=)
|
rs751107938
|
0.00001
|
NM_000089.4(COL1A2):c.3140T>G (p.Val1047Gly)
|
rs1033662953
|
0.00001
|
NM_000089.4(COL1A2):c.323C>G (p.Pro108Arg)
|
rs1791756508
|
0.00001
|
NM_000089.4(COL1A2):c.329C>T (p.Pro110Leu)
|
rs770180852
|
0.00001
|
NM_000089.4(COL1A2):c.3311G>A (p.Ser1104Asn)
|
rs771438684
|
0.00001
|
NM_000089.4(COL1A2):c.3346T>C (p.Phe1116Leu)
|
rs1368149627
|
0.00001
|
NM_000089.4(COL1A2):c.3404T>C (p.Val1135Ala)
|
rs779411376
|
0.00001
|
NM_000089.4(COL1A2):c.3526+4G>A
|
rs1284156162
|
0.00001
|
NM_000089.4(COL1A2):c.3532T>C (p.Tyr1178His)
|
rs750815565
|
0.00001
|
NM_000089.4(COL1A2):c.3554G>A (p.Gly1185Glu)
|
rs766941490
|
0.00001
|
NM_000089.4(COL1A2):c.3706A>G (p.Ser1236Gly)
|
rs781184808
|
0.00001
|
NM_000089.4(COL1A2):c.3708C>A (p.Ser1236Arg)
|
rs1214052566
|
0.00001
|
NM_000089.4(COL1A2):c.3741C>T (p.Ser1247=)
|
rs1792349319
|
0.00001
|
NM_000089.4(COL1A2):c.3773G>A (p.Arg1258His)
|
rs200663095
|
0.00001
|
NM_000089.4(COL1A2):c.384T>A (p.Pro128=)
|
rs767043956
|
0.00001
|
NM_000089.4(COL1A2):c.3879G>T (p.Gln1293His)
|
rs1214506904
|
0.00001
|
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro)
|
rs757449082
|
0.00001
|
NM_000089.4(COL1A2):c.3941T>C (p.Val1314Ala)
|
rs1421507234
|
0.00001
|
NM_000089.4(COL1A2):c.3995A>T (p.Lys1332Ile)
|
rs1484368913
|
0.00001
|
NM_000089.4(COL1A2):c.4036C>T (p.Pro1346Ser)
|
rs369008932
|
0.00001
|
NM_000089.4(COL1A2):c.4052G>A (p.Gly1351Asp)
|
rs372535479
|
0.00001
|
NM_000089.4(COL1A2):c.4078A>G (p.Ile1360Val)
|
rs1281006993
|
0.00001
|
NM_000089.4(COL1A2):c.455G>A (p.Arg152Gln)
|
rs765116624
|
0.00001
|
NM_000089.4(COL1A2):c.548A>G (p.Asn183Ser)
|
rs1283526350
|
0.00001
|
NM_000089.4(COL1A2):c.593A>G (p.Lys198Arg)
|
rs772672797
|
0.00001
|
NM_000089.4(COL1A2):c.674T>C (p.Val225Ala)
|
rs1210318478
|
0.00001
|
NM_000089.4(COL1A2):c.69A>G (p.Gln23=)
|
rs770754442
|
0.00001
|
NM_000089.4(COL1A2):c.77A>G (p.Gln26Arg)
|
rs1313865970
|
0.00001
|
NM_000089.4(COL1A2):c.835G>A (p.Ala279Thr)
|
rs374616916
|
0.00001
|
NM_000089.4(COL1A2):c.845G>A (p.Arg282His)
|
rs542393716
|
0.00001
|
NM_000089.4(COL1A2):c.877C>T (p.Pro293Ser)
|
rs1365024484
|
0.00001
|
NC_000007.13:g.(?_94024344)_(94059705_?)dup
|
|
|
NC_000007.13:g.(?_94027674)_(94027728_?)del
|
|
|
NC_000007.13:g.(?_94040181)_(94059705_?)dup
|
|
|
NM_000089.3(COL1A2):c.-150G>C
|
rs1584310114
|
|
NM_000089.3(COL1A2):c.-152G>A
|
rs769123288
|
|
NM_000089.3(COL1A2):c.-194C>T
|
rs1180929889
|
|
NM_000089.3(COL1A2):c.-204T>G
|
rs908653050
|
|
NM_000089.3(COL1A2):c.-264C>A
|
rs182924222
|
|
NM_000089.3(COL1A2):c.-365A>G
|
rs886062511
|
|
NM_000089.3(COL1A2):c.-397A>T
|
rs1791544304
|
|
NM_000089.3(COL1A2):c.-418G>A
|
rs939882798
|
|
NM_000089.4(COL1A2):c.*329A>G
|
rs1235561698
|
|
NM_000089.4(COL1A2):c.*469A>G
|
rs1792387263
|
|
NM_000089.4(COL1A2):c.*561T>C
|
rs1792389230
|
|
NM_000089.4(COL1A2):c.*618T>C
|
rs557107553
|
|
NM_000089.4(COL1A2):c.*638C>T
|
rs1792391514
|
|
NM_000089.4(COL1A2):c.-87C>T
|
rs886062513
|
|
NM_000089.4(COL1A2):c.1022_1033del (p.Ala341_Leu344del)
|
rs1584319451
|
|
NM_000089.4(COL1A2):c.1035+4A>T
|
|
|
NM_000089.4(COL1A2):c.1041G>T (p.Glu347Asp)
|
|
|
NM_000089.4(COL1A2):c.1058C>T (p.Ser353Phe)
|
|
|
NM_000089.4(COL1A2):c.1068G>C (p.Glu356Asp)
|
rs1057518430
|
|
NM_000089.4(COL1A2):c.1080G>A (p.Lys360=)
|
|
|
NM_000089.4(COL1A2):c.1089C>G (p.Pro363=)
|
rs748961276
|
|
NM_000089.4(COL1A2):c.110A>G (p.Asp37Gly)
|
|
|
NM_000089.4(COL1A2):c.1124G>T (p.Ser375Ile)
|
|
|
NM_000089.4(COL1A2):c.1145G>T (p.Gly382Val)
|
|
|
NM_000089.4(COL1A2):c.114A>G (p.Arg38=)
|
rs1462108134
|
|
NM_000089.4(COL1A2):c.1178C>A (p.Pro393Gln)
|
|
|
NM_000089.4(COL1A2):c.1186C>T (p.Pro396Ser)
|
rs886062515
|
|
NM_000089.4(COL1A2):c.1213C>T (p.Arg405Cys)
|
|
|
NM_000089.4(COL1A2):c.1228G>T (p.Ala410Ser)
|
rs1235071648
|
|
NM_000089.4(COL1A2):c.1240G>A (p.Ala414Thr)
|
|
|
NM_000089.4(COL1A2):c.1251+5G>C
|
|
|
NM_000089.4(COL1A2):c.1252-6del
|
rs886062516
|
|
NM_000089.4(COL1A2):c.1264A>T (p.Ser422Cys)
|
|
|
NM_000089.4(COL1A2):c.1273G>A (p.Ala425Thr)
|
|
|
NM_000089.4(COL1A2):c.1277G>C (p.Ser426Thr)
|
|
|
NM_000089.4(COL1A2):c.1277G>T (p.Ser426Ile)
|
rs376629202
|
|
NM_000089.4(COL1A2):c.1326G>T (p.Gly442=)
|
rs779173151
|
|
NM_000089.4(COL1A2):c.133-3C>A
|
rs1562897561
|
|
NM_000089.4(COL1A2):c.1340T>A (p.Met447Lys)
|
rs1446399667
|
|
NM_000089.4(COL1A2):c.1376T>C (p.Ile459Thr)
|
rs2115902728
|
|
NM_000089.4(COL1A2):c.1384G>A (p.Ala462Thr)
|
rs562290953
|
|
NM_000089.4(COL1A2):c.1393G>C (p.Glu465Gln)
|
rs1562902082
|
|
NM_000089.4(COL1A2):c.1399C>T (p.Pro467Ser)
|
|
|
NM_000089.4(COL1A2):c.1408C>T (p.Leu470Phe)
|
|
|
NM_000089.4(COL1A2):c.1418T>C (p.Ile473Thr)
|
|
|
NM_000089.4(COL1A2):c.1420G>A (p.Asp474Asn)
|
|
|
NM_000089.4(COL1A2):c.1422C>G (p.Asp474Glu)
|
|
|
NM_000089.4(COL1A2):c.1430C>T (p.Pro477Leu)
|
|
|
NM_000089.4(COL1A2):c.1438A>C (p.Ile480Leu)
|
rs778238943
|
|
NM_000089.4(COL1A2):c.1438A>G (p.Ile480Val)
|
|
|
NM_000089.4(COL1A2):c.1444C>A (p.Pro482Thr)
|
|
|
NM_000089.4(COL1A2):c.1446_1447delinsCA (p.Ala483Thr)
|
rs2115904550
|
|
NM_000089.4(COL1A2):c.145C>A (p.Pro49Thr)
|
|
|
NM_000089.4(COL1A2):c.146C>A (p.Pro49His)
|
|
|
NM_000089.4(COL1A2):c.1474A>T (p.Ile492Phe)
|
rs776551401
|
|
NM_000089.4(COL1A2):c.1498C>G (p.Pro500Ala)
|
rs2115904764
|
|
NM_000089.4(COL1A2):c.149C>T (p.Pro50Leu)
|
rs377637698
|
|
NM_000089.4(COL1A2):c.1502C>A (p.Thr501Asn)
|
|
|
NM_000089.4(COL1A2):c.1503+5G>A
|
|
|
NM_000089.4(COL1A2):c.150A>G (p.Pro50=)
|
rs369695645
|
|
NM_000089.4(COL1A2):c.1510C>A (p.Pro504Thr)
|
|
|
NM_000089.4(COL1A2):c.1535_1543dup (p.His512_Gly514dup)
|
rs1791961847
|
|
NM_000089.4(COL1A2):c.1546G>T (p.Ala516Ser)
|
rs1185283931
|
|
NM_000089.4(COL1A2):c.1557+6T>C
|
|
|
NM_000089.4(COL1A2):c.1562C>T (p.Ala521Val)
|
|
|
NM_000089.4(COL1A2):c.1570C>T (p.Pro524Ser)
|
rs1791979962
|
|
NM_000089.4(COL1A2):c.157G>A (p.Asp53Asn)
|
|
|
NM_000089.4(COL1A2):c.159T>A (p.Asp53Glu)
|
|
|
NM_000089.4(COL1A2):c.1601C>T (p.Pro534Leu)
|
|
|
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser)
|
rs42524
|
|
NM_000089.4(COL1A2):c.1652C>T (p.Pro551Leu)
|
|
|
NM_000089.4(COL1A2):c.1665+14_1665+15delinsCG
|
|
|
NM_000089.4(COL1A2):c.1678C>A (p.Pro560Thr)
|
rs2115910291
|
|
NM_000089.4(COL1A2):c.1700T>C (p.Val567Ala)
|
|
|
NM_000089.4(COL1A2):c.1705A>G (p.Lys569Glu)
|
rs2115910396
|
|
NM_000089.4(COL1A2):c.1719+19A>G
|
|
|
NM_000089.4(COL1A2):c.1727A>G (p.His576Arg)
|
|
|
NM_000089.4(COL1A2):c.1750C>A (p.Pro584Thr)
|
|
|
NM_000089.4(COL1A2):c.1765-5T>C
|
rs2115916781
|
|
NM_000089.4(COL1A2):c.1772G>A (p.Arg591His)
|
|
|
NM_000089.4(COL1A2):c.1772G>C (p.Arg591Pro)
|
|
|
NM_000089.4(COL1A2):c.1789A>G (p.Ser597Gly)
|
|
|
NM_000089.4(COL1A2):c.179G>A (p.Gly60Asp)
|
|
|
NM_000089.4(COL1A2):c.1816A>G (p.Ile606Val)
|
|
|
NM_000089.4(COL1A2):c.1826G>A (p.Arg609Gln)
|
|
|
NM_000089.4(COL1A2):c.1840C>T (p.Pro614Ser)
|
|
|
NM_000089.4(COL1A2):c.1888G>A (p.Val630Met)
|
|
|
NM_000089.4(COL1A2):c.1890G>A (p.Val630=)
|
|
|
NM_000089.4(COL1A2):c.1895C>G (p.Thr632Ser)
|
|
|
NM_000089.4(COL1A2):c.1898C>G (p.Ala633Gly)
|
rs2115921517
|
|
NM_000089.4(COL1A2):c.1908T>A (p.Ser636=)
|
rs1584324517
|
|
NM_000089.4(COL1A2):c.1912C>T (p.Pro638Ser)
|
|
|
NM_000089.4(COL1A2):c.1925C>T (p.Pro642Leu)
|
rs1064797338
|
|
NM_000089.4(COL1A2):c.1943C>T (p.Ala648Val)
|
|
|
NM_000089.4(COL1A2):c.1948A>G (p.Ile650Val)
|
rs781672171
|
|
NM_000089.4(COL1A2):c.1952C>T (p.Pro651Leu)
|
|
|
NM_000089.4(COL1A2):c.1971+3A>G
|
rs756587993
|
|
NM_000089.4(COL1A2):c.1971+3A>T
|
rs756587993
|
|
NM_000089.4(COL1A2):c.1971+4C>T
|
|
|
NM_000089.4(COL1A2):c.1987A>G (p.Arg663Gly)
|
|
|
NM_000089.4(COL1A2):c.199C>T (p.Pro67Ser)
|
|
|
NM_000089.4(COL1A2):c.1A>T (p.Met1Leu)
|
|
|
NM_000089.4(COL1A2):c.2025+4A>G
|
|
|
NM_000089.4(COL1A2):c.2074G>A (p.Asp692Asn)
|
|
|
NM_000089.4(COL1A2):c.2083G>A (p.Glu695Lys)
|
|
|
NM_000089.4(COL1A2):c.208C>T (p.Pro70Ser)
|
|
|
NM_000089.4(COL1A2):c.2095G>C (p.Ala699Pro)
|
|
|
NM_000089.4(COL1A2):c.2095GCTGGTCCT[4] (p.Pro707_Arg708insAlaGlyPro)
|
|
|
NM_000089.4(COL1A2):c.2101C>G (p.Pro701Ala)
|
|
|
NM_000089.4(COL1A2):c.2113G>T (p.Ala705Ser)
|
|
|
NM_000089.4(COL1A2):c.2123G>C (p.Arg708Pro)
|
rs72658163
|
|
NM_000089.4(COL1A2):c.2140C>G (p.Arg714Gly)
|
|
|
NM_000089.4(COL1A2):c.2141G>T (p.Arg714Leu)
|
rs773392397
|
|
NM_000089.4(COL1A2):c.2148_2156delinsACGTGG (p.Val717_Pro719delinsArgGly)
|
rs1584326175
|
|
NM_000089.4(COL1A2):c.2168A>T (p.Asn723Ile)
|
rs189374343
|
|
NM_000089.4(COL1A2):c.2187+14A>G
|
rs1792135004
|
|
NM_000089.4(COL1A2):c.2187+6T>A
|
rs794727585
|
|
NM_000089.4(COL1A2):c.2188-6_2188-1dup
|
|
|
NM_000089.4(COL1A2):c.2194G>A (p.Ala732Thr)
|
|
|
NM_000089.4(COL1A2):c.2245G>C (p.Glu749Gln)
|
|
|
NM_000089.4(COL1A2):c.2276T>C (p.Val759Ala)
|
|
|
NM_000089.4(COL1A2):c.2282C>G (p.Ala761Gly)
|
|
|
NM_000089.4(COL1A2):c.2295+3A>C
|
rs757560633
|
|
NM_000089.4(COL1A2):c.2295+5G>C
|
rs2115932392
|
|
NM_000089.4(COL1A2):c.2295T>C (p.Ala765=)
|
|
|
NM_000089.4(COL1A2):c.2296-3T>G
|
|
|
NM_000089.4(COL1A2):c.22C>T (p.Arg8Trp)
|
|
|
NM_000089.4(COL1A2):c.2329C>G (p.Arg777Gly)
|
|
|
NM_000089.4(COL1A2):c.2329C>T (p.Arg777Cys)
|
rs779108678
|
|
NM_000089.4(COL1A2):c.2329_2331del (p.Arg777del)
|
|
|
NM_000089.4(COL1A2):c.2345C>T (p.Pro782Leu)
|
|
|
NM_000089.4(COL1A2):c.2349+3G>A
|
|
|
NM_000089.4(COL1A2):c.2381G>A (p.Arg794Gln)
|
|
|
NM_000089.4(COL1A2):c.2398C>G (p.Pro800Ala)
|
|
|
NM_000089.4(COL1A2):c.2403+3A>G
|
|
|
NM_000089.4(COL1A2):c.2404-15T>C
|
|
|
NM_000089.4(COL1A2):c.2404-17del
|
|
|
NM_000089.4(COL1A2):c.2429C>G (p.Pro810Arg)
|
|
|
NM_000089.4(COL1A2):c.2455C>T (p.Arg819Cys)
|
rs2115941044
|
|
NM_000089.4(COL1A2):c.245A>G (p.Asp82Gly)
|
|
|
NM_000089.4(COL1A2):c.2464C>T (p.Arg822Cys)
|
|
|
NM_000089.4(COL1A2):c.2474A>C (p.Gln825Pro)
|
rs556922843
|
|
NM_000089.4(COL1A2):c.2474A>G (p.Gln825Arg)
|
|
|
NM_000089.4(COL1A2):c.2482G>T (p.Val828Phe)
|
|
|
NM_000089.4(COL1A2):c.2488C>G (p.Arg830Gly)
|
|
|
NM_000089.4(COL1A2):c.2509G>A (p.Val837Ile)
|
|
|
NM_000089.4(COL1A2):c.2515C>T (p.Pro839Ser)
|
|
|
NM_000089.4(COL1A2):c.254G>T (p.Gly85Val)
|
|
|
NM_000089.4(COL1A2):c.2550A>G (p.Gly850=)
|
|
|
NM_000089.4(COL1A2):c.2550A>T (p.Gly850=)
|
|
|
NM_000089.4(COL1A2):c.2553G>A (p.Glu851=)
|
rs1288784071
|
|
NM_000089.4(COL1A2):c.2554G>A (p.Ala852Thr)
|
|
|
NM_000089.4(COL1A2):c.2554G>T (p.Ala852Ser)
|
|
|
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser)
|
rs150179964
|
|
NM_000089.4(COL1A2):c.2596C>G (p.Leu866Val)
|
rs538945650
|
|
NM_000089.4(COL1A2):c.2596CTT[1] (p.Leu867del)
|
|
|
NM_000089.4(COL1A2):c.265G>C (p.Gly89Arg)
|
|
|
NM_000089.4(COL1A2):c.266G>T (p.Gly89Val)
|
|
|
NM_000089.4(COL1A2):c.2673+6T>A
|
|
|
NM_000089.4(COL1A2):c.2673G>A (p.Val891=)
|
rs1114167364
|
|
NM_000089.4(COL1A2):c.2674-9C>A
|
rs2115949204
|
|
NM_000089.4(COL1A2):c.2713G>T (p.Ala905Ser)
|
rs1344095248
|
|
NM_000089.4(COL1A2):c.2716C>T (p.Arg906Cys)
|
|
|
NM_000089.4(COL1A2):c.2717G>C (p.Arg906Pro)
|
rs147063981
|
|
NM_000089.4(COL1A2):c.2740A>G (p.Ser914Gly)
|
|
|
NM_000089.4(COL1A2):c.2758G>T (p.Ala920Ser)
|
|
|
NM_000089.4(COL1A2):c.2771C>G (p.Ala924Gly)
|
|
|
NM_000089.4(COL1A2):c.2776C>T (p.Arg926Cys)
|
|
|
NM_000089.4(COL1A2):c.2781+16G>A
|
|
|
NM_000089.4(COL1A2):c.2782-13G>A
|
|
|
NM_000089.4(COL1A2):c.278T>C (p.Met93Thr)
|
|
|
NM_000089.4(COL1A2):c.279+3A>G
|
|
|
NM_000089.4(COL1A2):c.280-7_280-3del
|
rs2115874855
|
|
NM_000089.4(COL1A2):c.2830C>T (p.His944Tyr)
|
rs1476399806
|
|
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)
|
rs779303344
|
|
NM_000089.4(COL1A2):c.2858A>G (p.Asn953Ser)
|
|
|
NM_000089.4(COL1A2):c.2879C>T (p.Ala960Val)
|
rs1482901474
|
|
NM_000089.4(COL1A2):c.2880A>T (p.Ala960=)
|
|
|
NM_000089.4(COL1A2):c.2894C>G (p.Pro965Arg)
|
rs1437648908
|
|
NM_000089.4(COL1A2):c.2904C>G (p.Pro968=)
|
rs142352627
|
|
NM_000089.4(COL1A2):c.2939A>G (p.Glu980Gly)
|
rs2115952651
|
|
NM_000089.4(COL1A2):c.2947C>T (p.Pro983Ser)
|
|
|
NM_000089.4(COL1A2):c.2960T>C (p.Val987Ala)
|
rs1584330105
|
|
NM_000089.4(COL1A2):c.2977G>C (p.Val993Leu)
|
rs1792270576
|
|
NM_000089.4(COL1A2):c.2997+6T>A
|
rs1584330154
|
|
NM_000089.4(COL1A2):c.29T>G (p.Leu10Trp)
|
|
|
NM_000089.4(COL1A2):c.3013C>T (p.Arg1005Cys)
|
|
|
NM_000089.4(COL1A2):c.302C>T (p.Pro101Leu)
|
|
|
NM_000089.4(COL1A2):c.3049A>G (p.Arg1017Gly)
|
|
|
NM_000089.4(COL1A2):c.304C>A (p.Pro102Thr)
|
rs189557655
|
|
NM_000089.4(COL1A2):c.305C>G (p.Pro102Arg)
|
rs780850548
|
|
NM_000089.4(COL1A2):c.3074A>G (p.His1025Arg)
|
|
|
NM_000089.4(COL1A2):c.3090T>A (p.Gly1030=)
|
|
|
NM_000089.4(COL1A2):c.3106-11T>C
|
rs1792292305
|
|
NM_000089.4(COL1A2):c.3118G>T (p.Asp1040Tyr)
|
|
|
NM_000089.4(COL1A2):c.3130C>T (p.Pro1044Ser)
|
|
|
NM_000089.4(COL1A2):c.3159+3A>C
|
rs2115957293
|
|
NM_000089.4(COL1A2):c.3159+6T>A
|
rs2115957317
|
|
NM_000089.4(COL1A2):c.3163C>T (p.Pro1055Ser)
|
|
|
NM_000089.4(COL1A2):c.3176C>T (p.Ser1059Phe)
|
|
|
NM_000089.4(COL1A2):c.3200G>T (p.Arg1067Leu)
|
|
|
NM_000089.4(COL1A2):c.3208C>T (p.His1070Tyr)
|
|
|
NM_000089.4(COL1A2):c.3210T>A (p.His1070Gln)
|
rs2115957891
|
|
NM_000089.4(COL1A2):c.3211C>A (p.Pro1071Thr)
|
rs886062518
|
|
NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser)
|
rs763974489
|
|
NM_000089.4(COL1A2):c.3227C>A (p.Pro1076His)
|
|
|
NM_000089.4(COL1A2):c.3249G>T (p.Gln1083His)
|
|
|
NM_000089.4(COL1A2):c.3267+5G>C
|
rs2115958193
|
|
NM_000089.4(COL1A2):c.3270C>G (p.Gly1090=)
|
rs548761767
|
|
NM_000089.4(COL1A2):c.3279_3287dup (p.1091PPG[5])
|
rs74315103
|
|
NM_000089.4(COL1A2):c.3289C>T (p.Pro1097Ser)
|
|
|
NM_000089.4(COL1A2):c.32T>C (p.Leu11Ser)
|
|
|
NM_000089.4(COL1A2):c.3319G>T (p.Gly1107Cys)
|
rs745396382
|
|
NM_000089.4(COL1A2):c.3338A>C (p.Asp1113Ala)
|
rs1562908093
|
|
NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro)
|
rs193922168
|
|
NM_000089.4(COL1A2):c.3360C>A (p.Asp1120Glu)
|
|
|
NM_000089.4(COL1A2):c.3367C>T (p.Arg1123Cys)
|
rs765271962
|
|
NM_000089.4(COL1A2):c.3368G>A (p.Arg1123His)
|
rs145541630
|
|
NM_000089.4(COL1A2):c.3368G>C (p.Arg1123Pro)
|
|
|
NM_000089.4(COL1A2):c.3382C>T (p.Leu1128Phe)
|
|
|
NM_000089.4(COL1A2):c.3403G>T (p.Val1135Phe)
|
|
|
NM_000089.4(COL1A2):c.3407A>G (p.Asp1136Gly)
|
rs745366015
|
|
NM_000089.4(COL1A2):c.3407A>T (p.Asp1136Val)
|
rs745366015
|
|
NM_000089.4(COL1A2):c.341A>G (p.Gln114Arg)
|
rs2115875606
|
|
NM_000089.4(COL1A2):c.3430A>C (p.Asn1144His)
|
rs374282276
|
|
NM_000089.4(COL1A2):c.3430A>T (p.Asn1144Tyr)
|
rs374282276
|
|
NM_000089.4(COL1A2):c.3439G>C (p.Glu1147Gln)
|
rs746701185
|
|
NM_000089.4(COL1A2):c.3443C>T (p.Thr1148Ile)
|
|
|
NM_000089.4(COL1A2):c.3463T>A (p.Ser1155Thr)
|
|
|
NM_000089.4(COL1A2):c.3469A>G (p.Lys1157Glu)
|
|
|
NM_000089.4(COL1A2):c.346C>T (p.Pro116Ser)
|
|
|
NM_000089.4(COL1A2):c.3481C>T (p.Arg1161Cys)
|
|
|
NM_000089.4(COL1A2):c.3482G>T (p.Arg1161Leu)
|
rs542912072
|
|
NM_000089.4(COL1A2):c.3488G>A (p.Cys1163Tyr)
|
rs1792314999
|
|
NM_000089.4(COL1A2):c.3502C>A (p.Leu1168Ile)
|
|
|
NM_000089.4(COL1A2):c.350C>T (p.Ala117Val)
|
|
|
NM_000089.4(COL1A2):c.3526+3A>G
|
|
|
NM_000089.4(COL1A2):c.3532_3543del (p.Tyr1178_Asp1181del)
|
rs1554398685
|
|
NM_000089.4(COL1A2):c.3556T>C (p.Cys1186Arg)
|
rs1421198378
|
|
NM_000089.4(COL1A2):c.3559A>G (p.Thr1187Ala)
|
|
|
NM_000089.4(COL1A2):c.3562A>G (p.Met1188Val)
|
|
|
NM_000089.4(COL1A2):c.3565G>A (p.Asp1189Asn)
|
|
|
NM_000089.4(COL1A2):c.3566A>G (p.Asp1189Gly)
|
rs754575611
|
|
NM_000089.4(COL1A2):c.3571A>G (p.Ile1191Val)
|
rs1792328980
|
|
NM_000089.4(COL1A2):c.3575A>G (p.Lys1192Arg)
|
|
|
NM_000089.4(COL1A2):c.3586G>T (p.Asp1196Tyr)
|
rs1792329797
|
|
NM_000089.4(COL1A2):c.3601G>A (p.Glu1201Lys)
|
|
|
NM_000089.4(COL1A2):c.3616G>C (p.Ala1206Pro)
|
rs200492800
|
|
NM_000089.4(COL1A2):c.3621A>T (p.Gln1207His)
|
|
|
NM_000089.4(COL1A2):c.3625G>A (p.Glu1209Lys)
|
rs267601644
|
|
NM_000089.4(COL1A2):c.3633C>G (p.Ile1211Met)
|
|
|
NM_000089.4(COL1A2):c.3635C>T (p.Pro1212Leu)
|
|
|
NM_000089.4(COL1A2):c.3656G>A (p.Ser1219Asn)
|
rs1554398702
|
|
NM_000089.4(COL1A2):c.367C>A (p.Pro123Thr)
|
rs774383359
|
|
NM_000089.4(COL1A2):c.368C>A (p.Pro123His)
|
rs1791759808
|
|
NM_000089.4(COL1A2):c.3699T>C (p.Asn1233=)
|
rs1792333529
|
|
NM_000089.4(COL1A2):c.3711+3G>A
|
|
|
NM_000089.4(COL1A2):c.3711+6G>A
|
|
|
NM_000089.4(COL1A2):c.3733G>A (p.Val1245Met)
|
|
|
NM_000089.4(COL1A2):c.3748A>G (p.Met1250Val)
|
rs1792349508
|
|
NM_000089.4(COL1A2):c.3760C>T (p.Leu1254Phe)
|
|
|
NM_000089.4(COL1A2):c.3769A>G (p.Met1257Val)
|
rs1792350190
|
|
NM_000089.4(COL1A2):c.3772C>T (p.Arg1258Cys)
|
rs766273613
|
|
NM_000089.4(COL1A2):c.379-3T>C
|
|
|
NM_000089.4(COL1A2):c.3797A>C (p.Gln1266Pro)
|
|
|
NM_000089.4(COL1A2):c.3809A>G (p.Tyr1270Cys)
|
rs886062519
|
|
NM_000089.4(COL1A2):c.3815G>C (p.Cys1272Ser)
|
rs1554398835
|
|
NM_000089.4(COL1A2):c.3822C>G (p.Asn1274Lys)
|
|
|
NM_000089.4(COL1A2):c.3832T>C (p.Tyr1278His)
|
|
|
NM_000089.4(COL1A2):c.3835A>T (p.Met1279Leu)
|
|
|
NM_000089.4(COL1A2):c.3836T>C (p.Met1279Thr)
|
|
|
NM_000089.4(COL1A2):c.3838G>A (p.Asp1280Asn)
|
|
|
NM_000089.4(COL1A2):c.3852C>T (p.Gly1284=)
|
rs663
|
|
NM_000089.4(COL1A2):c.3866C>G (p.Ala1289Gly)
|
|
|
NM_000089.4(COL1A2):c.3880G>C (p.Gly1294Arg)
|
rs2115966913
|
|
NM_000089.4(COL1A2):c.3889G>A (p.Asp1297Asn)
|
|
|
NM_000089.4(COL1A2):c.3897A>C (p.Glu1299Asp)
|
|
|
NM_000089.4(COL1A2):c.3898C>T (p.Leu1300Phe)
|
rs1725653924
|
|
NM_000089.4(COL1A2):c.3902T>C (p.Val1301Ala)
|
|
|
NM_000089.4(COL1A2):c.392C>T (p.Ala131Val)
|
|
|
NM_000089.4(COL1A2):c.3936dup (p.Leu1313fs)
|
rs2115967082
|
|
NM_000089.4(COL1A2):c.3949T>C (p.Cys1317Arg)
|
rs1792355097
|
|
NM_000089.4(COL1A2):c.394C>T (p.Arg132Cys)
|
|
|
NM_000089.4(COL1A2):c.3950G>A (p.Cys1317Tyr)
|
rs2115967180
|
|
NM_000089.4(COL1A2):c.3974G>A (p.Gly1325Glu)
|
|
|
NM_000089.4(COL1A2):c.3977A>T (p.Lys1326Met)
|
rs943353660
|
|
NM_000089.4(COL1A2):c.4028A>G (p.Asp1343Gly)
|
|
|
NM_000089.4(COL1A2):c.4047C>G (p.Ile1349Met)
|
|
|
NM_000089.4(COL1A2):c.4063G>T (p.Glu1355Ter)
|
rs760626067
|
|
NM_000089.4(COL1A2):c.4069T>C (p.Phe1357Leu)
|
|
|
NM_000089.4(COL1A2):c.412C>T (p.Pro138Ser)
|
|
|
NM_000089.4(COL1A2):c.417C>T (p.Gly139=)
|
|
|
NM_000089.4(COL1A2):c.439C>T (p.Pro147Ser)
|
rs1791770915
|
|
NM_000089.4(COL1A2):c.440C>G (p.Pro147Arg)
|
|
|
NM_000089.4(COL1A2):c.463G>A (p.Glu155Lys)
|
rs1791771795
|
|
NM_000089.4(COL1A2):c.472G>A (p.Val158Ile)
|
rs750224681
|
|
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile)
|
rs886062514
|
|
NM_000089.4(COL1A2):c.490G>A (p.Ala164Thr)
|
|
|
NM_000089.4(COL1A2):c.500T>C (p.Phe167Ser)
|
|
|
NM_000089.4(COL1A2):c.511C>T (p.Pro171Ser)
|
rs2115879087
|
|
NM_000089.4(COL1A2):c.517C>T (p.Leu173Phe)
|
|
|
NM_000089.4(COL1A2):c.520C>T (p.Pro174Ser)
|
|
|
NM_000089.4(COL1A2):c.529A>C (p.Lys177Gln)
|
rs1222909339
|
|
NM_000089.4(COL1A2):c.531A>C (p.Lys177Asn)
|
|
|
NM_000089.4(COL1A2):c.581C>T (p.Ala194Val)
|
|
|
NM_000089.4(COL1A2):c.58G>A (p.Ala20Thr)
|
|
|
NM_000089.4(COL1A2):c.594+15A>G
|
rs1791795919
|
|
NM_000089.4(COL1A2):c.595-5T>G
|
|
|
NM_000089.4(COL1A2):c.635A>C (p.Gln212Pro)
|
|
|
NM_000089.4(COL1A2):c.639+3A>G
|
rs2115886901
|
|
NM_000089.4(COL1A2):c.639+4A>T
|
|
|
NM_000089.4(COL1A2):c.639+4_639+7del
|
|
|
NM_000089.4(COL1A2):c.639A>G (p.Thr213=)
|
rs1015392105
|
|
NM_000089.4(COL1A2):c.653T>G (p.Leu218Arg)
|
|
|
NM_000089.4(COL1A2):c.665G>C (p.Arg222Thr)
|
|
|
NM_000089.4(COL1A2):c.693+2dup
|
rs2115888133
|
|
NM_000089.4(COL1A2):c.693+5G>A
|
|
|
NM_000089.4(COL1A2):c.693+6T>G
|
rs2115888140
|
|
NM_000089.4(COL1A2):c.709G>A (p.Asp237Asn)
|
|
|
NM_000089.4(COL1A2):c.718G>A (p.Val240Met)
|
|
|
NM_000089.4(COL1A2):c.719T>C (p.Val240Ala)
|
|
|
NM_000089.4(COL1A2):c.71C>G (p.Ser24Cys)
|
rs763546006
|
|
NM_000089.4(COL1A2):c.739-3C>T
|
|
|
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala)
|
rs1584318648
|
|
NM_000089.4(COL1A2):c.778G>A (p.Ala260Thr)
|
|
|
NM_000089.4(COL1A2):c.779C>T (p.Ala260Val)
|
rs1554395967
|
|
NM_000089.4(COL1A2):c.781C>G (p.Pro261Ala)
|
rs141075408
|
|
NM_000089.4(COL1A2):c.790A>G (p.Lys264Glu)
|
|
|
NM_000089.4(COL1A2):c.792+6A>C
|
|
|
NM_000089.4(COL1A2):c.798A>C (p.Glu266Asp)
|
|
|
NM_000089.4(COL1A2):c.79G>A (p.Glu27Lys)
|
|
|
NM_000089.4(COL1A2):c.817G>T (p.Ala273Ser)
|
|
|
NM_000089.4(COL1A2):c.81G>C (p.Glu27Asp)
|
rs2115851777
|
|
NM_000089.4(COL1A2):c.82-6T>C
|
|
|
NM_000089.4(COL1A2):c.824C>T (p.Pro275Leu)
|
|
|
NM_000089.4(COL1A2):c.82G>A (p.Glu28Lys)
|
rs1479695906
|
|
NM_000089.4(COL1A2):c.832C>G (p.Pro278Ala)
|
|
|
NM_000089.4(COL1A2):c.833C>T (p.Pro278Leu)
|
rs2115892207
|
|
NM_000089.4(COL1A2):c.835G>C (p.Ala279Pro)
|
rs374616916
|
|
NM_000089.4(COL1A2):c.836C>G (p.Ala279Gly)
|
|
|
NM_000089.4(COL1A2):c.853G>T (p.Val285Leu)
|
|
|
NM_000089.4(COL1A2):c.854T>C (p.Val285Ala)
|
|
|
NM_000089.4(COL1A2):c.880G>A (p.Val294Ile)
|
rs145693444
|
|
NM_000089.4(COL1A2):c.880G>T (p.Val294Phe)
|
rs145693444
|
|
NM_000089.4(COL1A2):c.887C>A (p.Pro296His)
|
|
|
NM_000089.4(COL1A2):c.890C>T (p.Pro297Leu)
|
|
|
NM_000089.4(COL1A2):c.891+4A>G
|
|
|
NM_000089.4(COL1A2):c.891T>G (p.Pro297=)
|
|
|
NM_000089.4(COL1A2):c.896A>C (p.Asn299Thr)
|
rs2115893108
|
|
NM_000089.4(COL1A2):c.896A>G (p.Asn299Ser)
|
|
|
NM_000089.4(COL1A2):c.970C>T (p.Pro324Ser)
|
rs2115894024
|
|
NM_000089.4(COL1A2):c.976C>A (p.Pro326Thr)
|
rs1791879479
|
|
NM_000089.4(COL1A2):c.979C>T (p.Arg327Cys)
|
|
|
NM_000089.4(COL1A2):c.98G>T (p.Gly33Val)
|
|
|