NM_000089.4(COL1A2):c.936+14C>T
|
rs42518
|
0.81710
|
NM_000089.4(COL1A2):c.937-3C>T
|
rs42519
|
0.81243
|
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)
|
rs42524
|
0.80779
|
NM_000089.4(COL1A2):c.1446A>C (p.Pro482=)
|
rs412777
|
0.35874
|
NM_000089.4(COL1A2):c.1665+15A>G
|
rs421587
|
0.28734
|
NM_000089.4(COL1A2):c.246T>C (p.Asp82=)
|
rs1800222
|
0.25224
|
NM_000089.4(COL1A2):c.87T>C (p.Thr29=)
|
rs1801182
|
0.12315
|
NM_000089.4(COL1A2):c.3712-13C>T
|
rs74335369
|
0.03051
|
NM_000089.4(COL1A2):c.1878G>T (p.Val626=)
|
rs1800238
|
0.02599
|
NM_000089.4(COL1A2):c.82-12A>G
|
rs143689469
|
0.01736
|
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=)
|
rs62001059
|
0.00679
|
NM_000089.4(COL1A2):c.1036-12A>G
|
rs41316929
|
0.00613
|
NM_000089.4(COL1A2):c.948C>T (p.Gly316=)
|
rs34511999
|
0.00566
|
NM_000089.4(COL1A2):c.2349+16G>C
|
rs112603291
|
0.00405
|
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=)
|
rs34691365
|
0.00404
|
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=)
|
rs34038163
|
0.00352
|
NM_000089.4(COL1A2):c.975A>T (p.Gly325=)
|
rs148063325
|
0.00340
|
NM_000089.4(COL1A2):c.1036-14G>A
|
rs114322680
|
0.00338
|
NM_000089.4(COL1A2):c.122G>A (p.Arg41His)
|
rs139528613
|
0.00310
|
NM_000089.4(COL1A2):c.595-20C>T
|
rs192022673
|
0.00242
|
NM_000089.4(COL1A2):c.96+10C>T
|
rs185341110
|
0.00242
|
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=)
|
rs141688356
|
0.00235
|
NM_000089.4(COL1A2):c.594+5A>T
|
rs200744314
|
0.00220
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln)
|
rs73428220
|
0.00167
|
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)
|
rs34147460
|
0.00159
|
NM_000089.4(COL1A2):c.1350+11A>T
|
rs193922160
|
0.00140
|
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met)
|
rs35820023
|
0.00139
|
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)
|
rs139726213
|
0.00120
|
NM_000089.4(COL1A2):c.582T>G (p.Ala194=)
|
rs144540908
|
0.00113
|
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
NM_000089.4(COL1A2):c.1971+18T>C
|
rs41317174
|
0.00072
|
NM_000089.4(COL1A2):c.1405-16A>G
|
rs73428205
|
0.00071
|
NM_000089.4(COL1A2):c.3585T>C (p.Cys1195=)
|
rs1800253
|
0.00067
|
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)
|
rs139851311
|
0.00066
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp)
|
rs150124840
|
0.00054
|
NM_000089.4(COL1A2):c.595-16A>G
|
rs143041120
|
0.00051
|
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=)
|
rs138357977
|
0.00040
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
NM_000089.4(COL1A2):c.138A>C (p.Pro46=)
|
rs148639088
|
0.00029
|
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=)
|
rs41317725
|
0.00028
|
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.639+19A>T
|
rs183516726
|
0.00024
|
NM_000089.4(COL1A2):c.892-13C>G
|
rs200532328
|
0.00024
|
NM_000089.4(COL1A2):c.945C>T (p.Pro315=)
|
rs147058179
|
0.00024
|
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln)
|
rs139446305
|
0.00021
|
NM_000089.4(COL1A2):c.1329G>A (p.Glu443=)
|
rs146206917
|
0.00021
|
NM_000089.4(COL1A2):c.981C>T (p.Arg327=)
|
rs141762645
|
0.00021
|
NM_000089.4(COL1A2):c.2754C>T (p.Asn918=)
|
rs375719762
|
0.00020
|
NM_000089.4(COL1A2):c.1866T>C (p.Gly622=)
|
rs765470622
|
0.00019
|
NM_000089.4(COL1A2):c.873C>T (p.Ser291=)
|
rs770128801
|
0.00019
|
NM_000089.4(COL1A2):c.1474A>G (p.Ile492Val)
|
rs776551401
|
0.00018
|
NM_000089.4(COL1A2):c.1353T>A (p.Gly451=)
|
rs545459178
|
0.00017
|
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser)
|
rs41317144
|
0.00017
|
NM_000089.4(COL1A2):c.132+20T>C
|
rs767408109
|
0.00016
|
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser)
|
rs189374343
|
0.00016
|
NM_000089.4(COL1A2):c.1252-17T>G
|
rs774667135
|
0.00014
|
NM_000089.4(COL1A2):c.226-6C>A
|
rs199616511
|
0.00014
|
NM_000089.4(COL1A2):c.2836-17C>T
|
rs370073620
|
0.00014
|
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=)
|
rs369434464
|
0.00014
|
NM_000089.4(COL1A2):c.1464G>T (p.Glu488Asp)
|
rs148802548
|
0.00013
|
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
|
rs142352627
|
0.00013
|
NM_000089.4(COL1A2):c.1972-9T>C
|
rs372800013
|
0.00012
|
NM_000089.4(COL1A2):c.2566-6A>G
|
rs141088934
|
0.00012
|
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu)
|
rs202068380
|
0.00011
|
NM_000089.4(COL1A2):c.2782-19T>G
|
rs193922164
|
0.00011
|
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.1770A>G (p.Glu590=)
|
rs138019868
|
0.00010
|
NM_000089.4(COL1A2):c.2274C>T (p.Pro758=)
|
rs541912705
|
0.00010
|
NM_000089.4(COL1A2):c.2717G>A (p.Arg906His)
|
rs147063981
|
0.00010
|
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=)
|
rs148362963
|
0.00010
|
NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=)
|
rs745413783
|
0.00010
|
NM_000089.4(COL1A2):c.486+15A>G
|
rs193922171
|
0.00010
|
NM_000089.4(COL1A2):c.1720-13A>C
|
rs755024426
|
0.00009
|
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.3186T>G (p.Ala1062=)
|
rs930277720
|
0.00009
|
NM_000089.4(COL1A2):c.395G>A (p.Arg132His)
|
rs372678526
|
0.00009
|
NM_000089.4(COL1A2):c.739-4T>G
|
rs373527410
|
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.3954+19T>C
|
rs369698720
|
0.00008
|
NM_000089.4(COL1A2):c.1036-3T>C
|
rs370275593
|
0.00007
|
NM_000089.4(COL1A2):c.1564C>T (p.Pro522Ser)
|
rs199732595
|
0.00007
|
NM_000089.4(COL1A2):c.2025+9A>G
|
rs368837694
|
0.00007
|
NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu)
|
rs149858889
|
0.00007
|
NM_000089.4(COL1A2):c.855G>C (p.Val285=)
|
rs185254570
|
0.00007
|
NM_000089.4(COL1A2):c.1036-9G>A
|
rs202024467
|
0.00006
|
NM_000089.4(COL1A2):c.1086G>A (p.Glu362=)
|
rs200284501
|
0.00006
|
NM_000089.4(COL1A2):c.1566A>G (p.Pro522=)
|
rs749869789
|
0.00006
|
NM_000089.4(COL1A2):c.1825C>A (p.Arg609=)
|
rs765398195
|
0.00006
|
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met)
|
rs374878685
|
0.00006
|
NM_000089.4(COL1A2):c.2250C>T (p.Asn750=)
|
rs372783567
|
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.2796C>T (p.Asn932=)
|
rs757671800
|
0.00006
|
NM_000089.4(COL1A2):c.2826C>T (p.Pro942=)
|
rs199580542
|
0.00006
|
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His)
|
rs201168934
|
0.00006
|
NM_000089.4(COL1A2):c.2943+12A>T
|
rs544894904
|
0.00006
|
NM_000089.4(COL1A2):c.2967T>C (p.Pro989=)
|
rs201760437
|
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.81+15T>C
|
rs758384218
|
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.1521C>T (p.Asn507=)
|
rs747938841
|
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.2388T>C (p.Gly796=)
|
rs370623514
|
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.526T>C (p.Phe176Leu)
|
rs370234887
|
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.2400C>T (p.Pro800=)
|
rs139913150
|
0.00004
|
NM_000089.4(COL1A2):c.2481A>C (p.Pro827=)
|
rs142310831
|
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.3106-19T>G
|
rs779002473
|
0.00004
|
NM_000089.4(COL1A2):c.3114T>C (p.His1038=)
|
rs974267627
|
0.00004
|
NM_000089.4(COL1A2):c.3209A>C (p.His1070Pro)
|
rs767399660
|
0.00004
|
NM_000089.4(COL1A2):c.3268-9C>T
|
rs763122023
|
0.00004
|
NM_000089.4(COL1A2):c.3337G>A (p.Asp1113Asn)
|
rs760490617
|
0.00004
|
NM_000089.4(COL1A2):c.3473A>C (p.Asn1158Thr)
|
rs1034555044
|
0.00004
|
NM_000089.4(COL1A2):c.3513A>G (p.Pro1171=)
|
rs936707370
|
0.00004
|
NM_000089.4(COL1A2):c.3600C>T (p.Gly1200=)
|
rs777362679
|
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.48C>T (p.Thr16=)
|
rs780687409
|
0.00004
|
NM_000089.4(COL1A2):c.644C>T (p.Ala215Val)
|
rs753438416
|
0.00004
|
NM_000089.4(COL1A2):c.70+8C>T
|
rs982206007
|
0.00004
|
NM_000089.4(COL1A2):c.71-7T>C
|
rs774842422
|
0.00004
|
NM_000089.4(COL1A2):c.727G>A (p.Val243Met)
|
rs764373659
|
0.00004
|
NM_000089.4(COL1A2):c.783T>C (p.Pro261=)
|
rs200436925
|
0.00004
|
NM_000089.4(COL1A2):c.909C>T (p.Asn303=)
|
rs985639597
|
0.00004
|
NM_000089.4(COL1A2):c.980G>A (p.Arg327His)
|
rs764174111
|
0.00004
|
NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile)
|
rs550867796
|
0.00003
|
NM_000089.4(COL1A2):c.1402G>A (p.Val468Ile)
|
rs770497661
|
0.00003
|
NM_000089.4(COL1A2):c.1422C>T (p.Asp474=)
|
rs766360064
|
0.00003
|
NM_000089.4(COL1A2):c.150A>C (p.Pro50=)
|
rs369695645
|
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.2799T>C (p.Asp933=)
|
rs751960243
|
0.00003
|
NM_000089.4(COL1A2):c.2842C>A (p.Arg948Ser)
|
rs779303344
|
0.00003
|
NM_000089.4(COL1A2):c.2943+20T>C
|
rs777594155
|
0.00003
|
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His)
|
rs200357942
|
0.00003
|
NM_000089.4(COL1A2):c.3200G>A (p.Arg1067His)
|
rs530026906
|
0.00003
|
NM_000089.4(COL1A2):c.3239G>A (p.Arg1080Gln)
|
rs751898427
|
0.00003
|
NM_000089.4(COL1A2):c.3526+10G>T
|
rs779375338
|
0.00003
|
NM_000089.4(COL1A2):c.3712-11A>G
|
rs748154668
|
0.00003
|
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala)
|
rs761465504
|
0.00003
|
NM_000089.4(COL1A2):c.694-15T>C
|
rs779799840
|
0.00003
|
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys)
|
rs1206388800
|
0.00003
|
NM_000089.4(COL1A2):c.81+10A>G
|
rs750283092
|
0.00003
|
NM_000089.4(COL1A2):c.830G>C (p.Gly277Ala)
|
rs752431578
|
0.00003
|
NM_000089.4(COL1A2):c.1036-10T>C
|
rs1363231522
|
0.00002
|
NM_000089.4(COL1A2):c.1048C>T (p.Pro350Ser)
|
rs201463779
|
0.00002
|
NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)
|
rs753455668
|
0.00002
|
NM_000089.4(COL1A2):c.1331C>T (p.Pro444Leu)
|
rs772238510
|
0.00002
|
NM_000089.4(COL1A2):c.1359T>C (p.Pro453=)
|
rs768981392
|
0.00002
|
NM_000089.4(COL1A2):c.1404+4A>C
|
rs369907691
|
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.2382G>A (p.Arg794=)
|
rs754562962
|
0.00002
|
NM_000089.4(COL1A2):c.2673+10T>A
|
rs747098214
|
0.00002
|
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)
|
rs749621872
|
0.00002
|
NM_000089.4(COL1A2):c.2782-20T>C
|
rs369687449
|
0.00002
|
NM_000089.4(COL1A2):c.280-8C>T
|
rs371996944
|
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.3108T>C (p.Gly1036=)
|
rs768992682
|
0.00002
|
NM_000089.4(COL1A2):c.3261C>T (p.Gly1087=)
|
rs142518265
|
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.3852C>A (p.Gly1284=)
|
rs663
|
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.639+20T>C
|
rs771890345
|
0.00002
|
NM_000089.4(COL1A2):c.647G>A (p.Arg216His)
|
rs756743425
|
0.00002
|
NM_000089.4(COL1A2):c.657T>G (p.Pro219=)
|
rs771837515
|
0.00002
|
NM_000089.4(COL1A2):c.670C>A (p.Arg224Ser)
|
rs763047559
|
0.00002
|
NM_000089.4(COL1A2):c.679G>A (p.Ala227Thr)
|
rs375401215
|
0.00002
|
NM_000089.4(COL1A2):c.693+7G>T
|
rs759896464
|
0.00002
|
NM_000089.4(COL1A2):c.694-19C>T
|
rs758082806
|
0.00002
|
NM_000089.4(COL1A2):c.781C>A (p.Pro261Thr)
|
rs141075408
|
0.00002
|
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.1071C>T (p.Ser357=)
|
rs752193830
|
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.1146C>T (p.Gly382=)
|
rs1397328517
|
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.1195A>G (p.Arg399Gly)
|
rs1213766484
|
0.00001
|
NM_000089.4(COL1A2):c.1197+14G>A
|
rs756968679
|
0.00001
|
NM_000089.4(COL1A2):c.1198-12A>G
|
rs1292046736
|
0.00001
|
NM_000089.4(COL1A2):c.1198-16A>T
|
rs984345878
|
0.00001
|
NM_000089.4(COL1A2):c.1198-8T>C
|
rs769888724
|
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.1245C>T (p.Gly415=)
|
rs752359132
|
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.132+7A>G
|
rs751380636
|
0.00001
|
NM_000089.4(COL1A2):c.133-15C>G
|
rs992330364
|
0.00001
|
NM_000089.4(COL1A2):c.1350+14T>A
|
rs377624499
|
0.00001
|
NM_000089.4(COL1A2):c.1354C>T (p.Leu452Phe)
|
rs780096548
|
0.00001
|
NM_000089.4(COL1A2):c.1377C>T (p.Ile459=)
|
rs770230919
|
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.1419C>T (p.Ile473=)
|
rs543815305
|
0.00001
|
NM_000089.4(COL1A2):c.1439T>C (p.Ile480Thr)
|
rs568201784
|
0.00001
|
NM_000089.4(COL1A2):c.1503+11C>T
|
rs538640615
|
0.00001
|
NM_000089.4(COL1A2):c.1503+13A>G
|
rs759564451
|
0.00001
|
NM_000089.4(COL1A2):c.1504-19T>G
|
rs746631924
|
0.00001
|
NM_000089.4(COL1A2):c.1516A>C (p.Lys506Gln)
|
rs1037367793
|
0.00001
|
NM_000089.4(COL1A2):c.1522G>A (p.Gly508Ser)
|
rs769600024
|
0.00001
|
NM_000089.4(COL1A2):c.1563T>C (p.Ala521=)
|
rs765688776
|
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.1666-17T>C
|
rs758247671
|
0.00001
|
NM_000089.4(COL1A2):c.1686T>A (p.Gly562=)
|
rs1394933873
|
0.00001
|
NM_000089.4(COL1A2):c.1719+15T>C
|
rs746176634
|
0.00001
|
NM_000089.4(COL1A2):c.1761A>G (p.Pro587=)
|
rs746150563
|
0.00001
|
NM_000089.4(COL1A2):c.1764+13T>G
|
rs780458719
|
0.00001
|
NM_000089.4(COL1A2):c.1773C>T (p.Arg591=)
|
rs774232044
|
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+17A>G
|
rs1057524258
|
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.1972-7C>T
|
rs776401729
|
0.00001
|
NM_000089.4(COL1A2):c.2023C>T (p.Arg675Cys)
|
rs778295967
|
0.00001
|
NM_000089.4(COL1A2):c.2026-19G>A
|
rs546549922
|
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.2079+8T>C
|
rs745913455
|
0.00001
|
NM_000089.4(COL1A2):c.2091G>A (p.Gly697=)
|
rs749221597
|
0.00001
|
NM_000089.4(COL1A2):c.2098G>T (p.Gly700Cys)
|
rs72658160
|
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.2151C>T (p.Val717=)
|
rs763380136
|
0.00001
|
NM_000089.4(COL1A2):c.2187+8T>C
|
rs763816519
|
0.00001
|
NM_000089.4(COL1A2):c.219C>T (p.Leu73=)
|
rs768467735
|
0.00001
|
NM_000089.4(COL1A2):c.2200C>G (p.Gln734Glu)
|
rs774919512
|
0.00001
|
NM_000089.4(COL1A2):c.225+14C>T
|
rs751435484
|
0.00001
|
NM_000089.4(COL1A2):c.2255T>G (p.Val752Gly)
|
rs1205884799
|
0.00001
|
NM_000089.4(COL1A2):c.2295+15C>T
|
rs1359360545
|
0.00001
|
NM_000089.4(COL1A2):c.2296-6A>G
|
rs1004706789
|
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.2424T>C (p.Gly808=)
|
rs766541855
|
0.00001
|
NM_000089.4(COL1A2):c.2506G>A (p.Ala836Thr)
|
rs759738995
|
0.00001
|
NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala)
|
rs928361235
|
0.00001
|
NM_000089.4(COL1A2):c.2565+7G>A
|
rs368445054
|
0.00001
|
NM_000089.4(COL1A2):c.2566-19G>A
|
rs754764745
|
0.00001
|
NM_000089.4(COL1A2):c.256G>C (p.Val86Leu)
|
rs777971816
|
0.00001
|
NM_000089.4(COL1A2):c.2622T>C (p.Gly874=)
|
rs769128071
|
0.00001
|
NM_000089.4(COL1A2):c.2633C>T (p.Ser878Leu)
|
rs773819922
|
0.00001
|
NM_000089.4(COL1A2):c.2634G>A (p.Ser878=)
|
rs762339011
|
0.00001
|
NM_000089.4(COL1A2):c.2663C>G (p.Ala888Gly)
|
rs752453618
|
0.00001
|
NM_000089.4(COL1A2):c.2673+8C>T
|
rs760346992
|
0.00001
|
NM_000089.4(COL1A2):c.2696T>C (p.Ile899Thr)
|
rs1245765830
|
0.00001
|
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)
|
rs72659306
|
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.2781+10A>G
|
rs760431398
|
0.00001
|
NM_000089.4(COL1A2):c.2781+13C>G
|
rs193922163
|
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.280-7T>C
|
rs750868020
|
0.00001
|
NM_000089.4(COL1A2):c.2802T>C (p.Gly934=)
|
rs1379123302
|
0.00001
|
NM_000089.4(COL1A2):c.2805C>A (p.Pro935=)
|
rs377577833
|
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.2823A>G (p.Gln941=)
|
rs1187487060
|
0.00001
|
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)
|
rs538844573
|
0.00001
|
NM_000089.4(COL1A2):c.2868C>T (p.Pro956=)
|
rs141516754
|
0.00001
|
NM_000089.4(COL1A2):c.2870T>A (p.Val957Asp)
|
rs374347304
|
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.2925T>C (p.His975=)
|
rs754497392
|
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.2944-4A>T
|
rs143220941
|
0.00001
|
NM_000089.4(COL1A2):c.2957C>T (p.Pro986Leu)
|
rs768171831
|
0.00001
|
NM_000089.4(COL1A2):c.2958del (p.Val987fs)
|
rs1064793527
|
0.00001
|
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)
|
rs1410254723
|
0.00001
|
NM_000089.4(COL1A2):c.2993C>T (p.Pro998Leu)
|
rs1204582322
|
0.00001
|
NM_000089.4(COL1A2):c.2998-4A>G
|
rs1246541197
|
0.00001
|
NM_000089.4(COL1A2):c.300C>T (p.Gly100=)
|
rs751107938
|
0.00001
|
NM_000089.4(COL1A2):c.3033C>T (p.Pro1011=)
|
rs780036812
|
0.00001
|
NM_000089.4(COL1A2):c.3102C>T (p.Ile1034=)
|
rs768455635
|
0.00001
|
NM_000089.4(COL1A2):c.3106-5T>C
|
rs374164023
|
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.324+15C>T
|
rs371250316
|
0.00001
|
NM_000089.4(COL1A2):c.3282C>T (p.Pro1094=)
|
rs753082771
|
0.00001
|
NM_000089.4(COL1A2):c.329C>T (p.Pro110Leu)
|
rs770180852
|
0.00001
|
NM_000089.4(COL1A2):c.3303A>G (p.Pro1101=)
|
rs889862814
|
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.3369C>T (p.Arg1123=)
|
rs1274009584
|
0.00001
|
NM_000089.4(COL1A2):c.3404T>C (p.Val1135Ala)
|
rs779411376
|
0.00001
|
NM_000089.4(COL1A2):c.3414T>C (p.Thr1138=)
|
rs757889815
|
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.3711+20C>A
|
rs555027516
|
0.00001
|
NM_000089.4(COL1A2):c.3773G>A (p.Arg1258His)
|
rs200663095
|
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.389G>A (p.Gly130Asp)
|
rs72656360
|
0.00001
|
NM_000089.4(COL1A2):c.3941T>C (p.Val1314Ala)
|
rs1421507234
|
0.00001
|
NM_000089.4(COL1A2):c.3945T>C (p.Asp1315=)
|
rs993519019
|
0.00001
|
NM_000089.4(COL1A2):c.3954+8A>G
|
rs747626670
|
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.426T>G (p.Gly142=)
|
rs750357212
|
0.00001
|
NM_000089.4(COL1A2):c.455G>A (p.Arg152Gln)
|
rs765116624
|
0.00001
|
NM_000089.4(COL1A2):c.513T>C (p.Pro171=)
|
rs1204358667
|
0.00001
|
NM_000089.4(COL1A2):c.540+17C>A
|
rs759527558
|
0.00001
|
NM_000089.4(COL1A2):c.541-19A>G
|
rs750692751
|
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.60A>C (p.Ala20=)
|
rs779022418
|
0.00001
|
NM_000089.4(COL1A2):c.640-16A>G
|
rs539923265
|
0.00001
|
NM_000089.4(COL1A2):c.660T>C (p.Gly220=)
|
rs746887380
|
0.00001
|
NM_000089.4(COL1A2):c.674T>C (p.Val225Ala)
|
rs1210318478
|
0.00001
|
NM_000089.4(COL1A2):c.693+12C>A
|
rs767990110
|
0.00001
|
NM_000089.4(COL1A2):c.69A>G (p.Gln23=)
|
rs770754442
|
0.00001
|
NM_000089.4(COL1A2):c.720G>A (p.Val240=)
|
rs1419697305
|
0.00001
|
NM_000089.4(COL1A2):c.726C>T (p.Pro242=)
|
rs761063195
|
0.00001
|
NM_000089.4(COL1A2):c.77A>G (p.Gln26Arg)
|
rs1313865970
|
0.00001
|
NM_000089.4(COL1A2):c.793-20G>T
|
rs770146997
|
0.00001
|
NM_000089.4(COL1A2):c.81+18T>A
|
rs1183435820
|
0.00001
|
NM_000089.4(COL1A2):c.81+8A>C
|
rs765118884
|
0.00001
|
NM_000089.4(COL1A2):c.816C>T (p.Asn272=)
|
rs1465476385
|
0.00001
|
NM_000089.4(COL1A2):c.834C>T (p.Pro278=)
|
rs760482884
|
0.00001
|
NM_000089.4(COL1A2):c.835G>A (p.Ala279Thr)
|
rs374616916
|
0.00001
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
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
|
NM_000089.4(COL1A2):c.879C>G (p.Pro293=)
|
rs780283556
|
0.00001
|
NM_000089.4(COL1A2):c.891+7A>T
|
rs1017077909
|
0.00001
|
NM_000089.4(COL1A2):c.892-20T>G
|
rs750377261
|
0.00001
|
NM_000089.4(COL1A2):c.892-5C>T
|
rs778088746
|
0.00001
|
NM_000089.4(COL1A2):c.942T>C (p.Leu314=)
|
rs780887310
|
0.00001
|
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser)
|
rs72656392
|
0.00001
|
NM_000089.4(COL1A2):c.963C>T (p.Pro321=)
|
rs147021092
|
0.00001
|
NC_000007.13:g.(?_94024344)_(94059705_?)dup
|
|
|
NC_000007.13:g.(?_94024344)_(94285410_?)del
|
|
|
NC_000007.13:g.(?_94027674)_(94027728_?)del
|
|
|
NC_000007.13:g.(?_94028341)_(94030952_?)del
|
|
|
NC_000007.13:g.(?_94037139)_(94037712_?)dup
|
|
|
NC_000007.13:g.(?_94037139)_(94038155_?)dup
|
|
|
NC_000007.13:g.(?_94037531)_(94038117_?)del
|
|
|
NC_000007.13:g.(?_94040181)_(94059705_?)dup
|
|
|
NC_000007.14:g.(?_94395012)_(94395818_?)del
|
|
|
NC_000007.14:g.(?_94395012)_(94399104_?)del
|
|
|
NC_000007.14:g.94425611del
|
|
|
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)
|
rs67865220
|
|
NM_000089.4(COL1A2):c.1009G>T (p.Gly337Cys)
|
|
|
NM_000089.4(COL1A2):c.1010G>C (p.Gly337Ala)
|
rs2115894285
|
|
NM_000089.4(COL1A2):c.1010G>T (p.Gly337Val)
|
|
|
NM_000089.4(COL1A2):c.1017T>C (p.Thr339=)
|
rs1584319446
|
|
NM_000089.4(COL1A2):c.1029A>G (p.Gly343=)
|
rs2115894389
|
|
NM_000089.4(COL1A2):c.1035+14A>T
|
|
|
NM_000089.4(COL1A2):c.1035+4A>T
|
|
|
NM_000089.4(COL1A2):c.1036-14G>T
|
rs114322680
|
|
NM_000089.4(COL1A2):c.1036-15T>C
|
|
|
NM_000089.4(COL1A2):c.1036-16C>T
|
|
|
NM_000089.4(COL1A2):c.1036-19G>C
|
|
|
NM_000089.4(COL1A2):c.1036-1G>T
|
|
|
NM_000089.4(COL1A2):c.1036-5C>A
|
|
|
NM_000089.4(COL1A2):c.1041G>A (p.Glu347=)
|
rs1584319702
|
|
NM_000089.4(COL1A2):c.1041G>T (p.Glu347Asp)
|
|
|
NM_000089.4(COL1A2):c.1045G>A (p.Gly349Ser)
|
rs66773001
|
|
NM_000089.4(COL1A2):c.1045G>C (p.Gly349Arg)
|
rs66773001
|
|
NM_000089.4(COL1A2):c.1045G>T (p.Gly349Cys)
|
rs66773001
|
|
NM_000089.4(COL1A2):c.1050A>C (p.Pro350=)
|
rs1055249689
|
|
NM_000089.4(COL1A2):c.1054G>A (p.Gly352Ser)
|
rs1064796419
|
|
NM_000089.4(COL1A2):c.1058C>T (p.Ser353Phe)
|
|
|
NM_000089.4(COL1A2):c.1068G>C (p.Glu356Asp)
|
rs1057518430
|
|
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)
|
rs66619856
|
|
NM_000089.4(COL1A2):c.1080G>A (p.Lys360=)
|
|
|
NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys)
|
rs1791894410
|
|
NM_000089.4(COL1A2):c.1089+14T>C
|
rs1259284980
|
|
NM_000089.4(COL1A2):c.1089+16A>G
|
|
|
NM_000089.4(COL1A2):c.1089+1G>A
|
|
|
NM_000089.4(COL1A2):c.1089+8del
|
rs1791895030
|
|
NM_000089.4(COL1A2):c.1089C>G (p.Pro363=)
|
rs748961276
|
|
NM_000089.4(COL1A2):c.1090-10C>A
|
rs1454873351
|
|
NM_000089.4(COL1A2):c.1090-18G>T
|
|
|
NM_000089.4(COL1A2):c.1090-6A>G
|
rs2115896474
|
|
NM_000089.4(COL1A2):c.1099G>A (p.Gly367Arg)
|
|
|
NM_000089.4(COL1A2):c.1101G>A (p.Gly367=)
|
rs1800237
|
|
NM_000089.4(COL1A2):c.1107A>G (p.Gln369=)
|
rs776853005
|
|
NM_000089.4(COL1A2):c.1109G>T (p.Gly370Val)
|
rs72658104
|
|
NM_000089.4(COL1A2):c.110A>G (p.Asp37Gly)
|
|
|
NM_000089.4(COL1A2):c.1124G>T (p.Ser375Ile)
|
|
|
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)
|
rs67543427
|
|
NM_000089.4(COL1A2):c.1134A>G (p.Glu378=)
|
|
|
NM_000089.4(COL1A2):c.1136G>C (p.Gly379Ala)
|
rs121912912
|
|
NM_000089.4(COL1A2):c.1144G>A (p.Gly382Ser)
|
rs2115896730
|
|
NM_000089.4(COL1A2):c.114A>G (p.Arg38=)
|
rs1462108134
|
|
NM_000089.4(COL1A2):c.1153G>C (p.Gly385Arg)
|
|
|
NM_000089.4(COL1A2):c.1154G>A (p.Gly385Glu)
|
|
|
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)
|
rs67707918
|
|
NM_000089.4(COL1A2):c.1171G>T (p.Gly391Cys)
|
rs67707918
|
|
NM_000089.4(COL1A2):c.1178C>A (p.Pro393Gln)
|
|
|
NM_000089.4(COL1A2):c.1188T>C (p.Pro396=)
|
|
|
NM_000089.4(COL1A2):c.1191G>A (p.Gly397=)
|
|
|
NM_000089.4(COL1A2):c.1197+19C>T
|
|
|
NM_000089.4(COL1A2):c.1197+5G>A
|
rs68132885
|
|
NM_000089.4(COL1A2):c.1197+5G>C
|
|
|
NM_000089.4(COL1A2):c.1208G>T (p.Gly403Val)
|
rs1554396271
|
|
NM_000089.4(COL1A2):c.1213C>T (p.Arg405Cys)
|
|
|
NM_000089.4(COL1A2):c.1216G>A (p.Gly406Ser)
|
rs72658108
|
|
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+11T>C
|
|
|
NM_000089.4(COL1A2):c.1251+5G>C
|
|
|
NM_000089.4(COL1A2):c.1251+9T>C
|
|
|
NM_000089.4(COL1A2):c.1252-15T>C
|
rs2115898987
|
|
NM_000089.4(COL1A2):c.1252-19T>G
|
|
|
NM_000089.4(COL1A2):c.1252-20T>G
|
rs2115898936
|
|
NM_000089.4(COL1A2):c.1252-6G>T
|
|
|
NM_000089.4(COL1A2):c.1252-6del
|
rs886062516
|
|
NM_000089.4(COL1A2):c.1264A>T (p.Ser422Cys)
|
|
|
NM_000089.4(COL1A2):c.1270G>A (p.Gly424Ser)
|
rs72658112
|
|
NM_000089.4(COL1A2):c.1277G>C (p.Ser426Thr)
|
|
|
NM_000089.4(COL1A2):c.1277G>T (p.Ser426Ile)
|
rs376629202
|
|
NM_000089.4(COL1A2):c.1279G>A (p.Gly427Ser)
|
|
|
NM_000089.4(COL1A2):c.1296A>G (p.Arg432=)
|
|
|
NM_000089.4(COL1A2):c.132+14G>T
|
|
|
NM_000089.4(COL1A2):c.1324G>A (p.Gly442Arg)
|
rs1554396361
|
|
NM_000089.4(COL1A2):c.1326G>T (p.Gly442=)
|
rs779173151
|
|
NM_000089.4(COL1A2):c.133-17C>T
|
|
|
NM_000089.4(COL1A2):c.133-19C>G
|
|
|
NM_000089.4(COL1A2):c.133-3C>A
|
rs1562897561
|
|
NM_000089.4(COL1A2):c.133-5A>G
|
|
|
NM_000089.4(COL1A2):c.1338C>T (p.Leu446=)
|
rs1213032761
|
|
NM_000089.4(COL1A2):c.1340T>A (p.Met447Lys)
|
rs1446399667
|
|
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)
|
rs1584320605
|
|
NM_000089.4(COL1A2):c.1350+13C>G
|
|
|
NM_000089.4(COL1A2):c.1351-16C>G
|
|
|
NM_000089.4(COL1A2):c.1351-16C>T
|
|
|
NM_000089.4(COL1A2):c.1351-17C>G
|
|
|
NM_000089.4(COL1A2):c.1351-17C>T
|
|
|
NM_000089.4(COL1A2):c.1351-9A>G
|
|
|
NM_000089.4(COL1A2):c.1371A>G (p.Gly457=)
|
rs2115902719
|
|
NM_000089.4(COL1A2):c.1376T>C (p.Ile459Thr)
|
rs2115902728
|
|
NM_000089.4(COL1A2):c.1378G>A (p.Gly460Ser)
|
rs72658118
|
|
NM_000089.4(COL1A2):c.1383C>A (p.Pro461=)
|
|
|
NM_000089.4(COL1A2):c.1384G>A (p.Ala462Thr)
|
rs562290953
|
|
NM_000089.4(COL1A2):c.1388G>C (p.Gly463Ala)
|
rs2115902837
|
|
NM_000089.4(COL1A2):c.1391AAG[1] (p.Glu465del)
|
rs1791941199
|
|
NM_000089.4(COL1A2):c.1393G>C (p.Glu465Gln)
|
rs1562902082
|
|
NM_000089.4(COL1A2):c.1399C>T (p.Pro467Ser)
|
|
|
NM_000089.4(COL1A2):c.1405-10_1405-9del
|
rs778910090
|
|
NM_000089.4(COL1A2):c.1405G>A (p.Gly469Ser)
|
|
|
NM_000089.4(COL1A2):c.1408C>T (p.Leu470Phe)
|
|
|
NM_000089.4(COL1A2):c.1416C>T (p.Gly472=)
|
|
|
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.1423G>A (p.Gly475Ser)
|
rs755058199
|
|
NM_000089.4(COL1A2):c.1425C>T (p.Gly475=)
|
|
|
NM_000089.4(COL1A2):c.1430C>T (p.Pro477Leu)
|
|
|
NM_000089.4(COL1A2):c.1430del (p.Pro477fs)
|
|
|
NM_000089.4(COL1A2):c.1432G>T (p.Gly478Cys)
|
|
|
NM_000089.4(COL1A2):c.1434C>A (p.Gly478=)
|
rs756412829
|
|
NM_000089.4(COL1A2):c.1438A>C (p.Ile480Leu)
|
rs778238943
|
|
NM_000089.4(COL1A2):c.1438A>G (p.Ile480Val)
|
|
|
NM_000089.4(COL1A2):c.1441G>C (p.Gly481Arg)
|
rs72658120
|
|
NM_000089.4(COL1A2):c.1443C>G (p.Gly481=)
|
rs757839011
|
|
NM_000089.4(COL1A2):c.1444C>A (p.Pro482Thr)
|
|
|
NM_000089.4(COL1A2):c.1446A>T (p.Pro482=)
|
rs412777
|
|
NM_000089.4(COL1A2):c.1446_1447delinsCA (p.Ala483Thr)
|
rs2115904550
|
|
NM_000089.4(COL1A2):c.1459G>A (p.Gly487Arg)
|
rs1791952936
|
|
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.1477G>C (p.Gly493Arg)
|
rs1554396612
|
|
NM_000089.4(COL1A2):c.1478G>A (p.Gly493Glu)
|
rs72658121
|
|
NM_000089.4(COL1A2):c.1478G>T (p.Gly493Val)
|
|
|
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+12_1503+14del
|
rs772246319
|
|
NM_000089.4(COL1A2):c.1503+1G>A
|
rs1554396615
|
|
NM_000089.4(COL1A2):c.1503+1G>C
|
rs1554396615
|
|
NM_000089.4(COL1A2):c.1503+20T>C
|
|
|
NM_000089.4(COL1A2):c.1503+5G>A
|
|
|
NM_000089.4(COL1A2):c.1503+5_1503+9dup
|
|
|
NM_000089.4(COL1A2):c.1504-18T>G
|
|
|
NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser)
|
rs121912910
|
|
NM_000089.4(COL1A2):c.1505G>A (p.Gly502Asp)
|
|
|
NM_000089.4(COL1A2):c.150A>G (p.Pro50=)
|
rs369695645
|
|
NM_000089.4(COL1A2):c.1510C>A (p.Pro504Thr)
|
|
|
NM_000089.4(COL1A2):c.1512T>C (p.Pro504=)
|
|
|
NM_000089.4(COL1A2):c.1513G>A (p.Gly505Ser)
|
rs1554396679
|
|
NM_000089.4(COL1A2):c.1514G>C (p.Gly505Ala)
|
rs1554396680
|
|
NM_000089.4(COL1A2):c.1515del (p.Asn507fs)
|
|
|
NM_000089.4(COL1A2):c.1524T>C (p.Gly508=)
|
|
|
NM_000089.4(COL1A2):c.1532G>A (p.Gly511Asp)
|
rs66999265
|
|
NM_000089.4(COL1A2):c.1535_1543dup (p.His512_Gly514dup)
|
rs1791961847
|
|
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala)
|
rs1791962073
|
|
NM_000089.4(COL1A2):c.1546G>T (p.Ala516Ser)
|
rs1185283931
|
|
NM_000089.4(COL1A2):c.1549G>A (p.Gly517Ser)
|
|
|
NM_000089.4(COL1A2):c.1555C>A (p.Arg519=)
|
|
|
NM_000089.4(COL1A2):c.1557+11A>G
|
|
|
NM_000089.4(COL1A2):c.1557+12C>T
|
|
|
NM_000089.4(COL1A2):c.1557+6T>C
|
|
|
NM_000089.4(COL1A2):c.1557+8C>T
|
rs1584321985
|
|
NM_000089.4(COL1A2):c.1558-7T>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.1576G>A (p.Gly526Arg)
|
rs72658129
|
|
NM_000089.4(COL1A2):c.157G>A (p.Asp53Asn)
|
|
|
NM_000089.4(COL1A2):c.159T>A (p.Asp53Glu)
|
|
|
NM_000089.4(COL1A2):c.159T>C (p.Asp53=)
|
rs201699348
|
|
NM_000089.4(COL1A2):c.1601C>T (p.Pro534Leu)
|
|
|
NM_000089.4(COL1A2):c.1611+10T>C
|
rs2115908396
|
|
NM_000089.4(COL1A2):c.1611+3_1611+6del
|
|
|
NM_000089.4(COL1A2):c.1612-18C>G
|
|
|
NM_000089.4(COL1A2):c.1612-20C>A
|
|
|
NM_000089.4(COL1A2):c.1612-20C>T
|
|
|
NM_000089.4(COL1A2):c.1612-7C>T
|
|
|
NM_000089.4(COL1A2):c.1612-9C>T
|
|
|
NM_000089.4(COL1A2):c.1630G>A (p.Gly544Ser)
|
|
|
NM_000089.4(COL1A2):c.1644_1645delinsTG (p.Pro549Ala)
|
|
|
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser)
|
rs42524
|
|
NM_000089.4(COL1A2):c.1648G>A (p.Gly550Ser)
|
|
|
NM_000089.4(COL1A2):c.1652C>T (p.Pro551Leu)
|
|
|
NM_000089.4(COL1A2):c.1665+10C>T
|
|
|
NM_000089.4(COL1A2):c.1665+14_1665+15delinsCG
|
|
|
NM_000089.4(COL1A2):c.1665+20T>C
|
|
|
NM_000089.4(COL1A2):c.1665+9A>G
|
|
|
NM_000089.4(COL1A2):c.1666-19T>C
|
|
|
NM_000089.4(COL1A2):c.1666-6T>C
|
|
|
NM_000089.4(COL1A2):c.1666G>T (p.Gly556Cys)
|
rs1554396832
|
|
NM_000089.4(COL1A2):c.1675G>A (p.Gly559Ser)
|
|
|
NM_000089.4(COL1A2):c.1678C>A (p.Pro560Thr)
|
rs2115910291
|
|
NM_000089.4(COL1A2):c.1689C>G (p.Pro563=)
|
|
|
NM_000089.4(COL1A2):c.1689C>T (p.Pro563=)
|
|
|
NM_000089.4(COL1A2):c.1693G>A (p.Gly565Ser)
|
|
|
NM_000089.4(COL1A2):c.1694G>C (p.Gly565Ala)
|
rs794727470
|
|
NM_000089.4(COL1A2):c.1700T>C (p.Val567Ala)
|
|
|
NM_000089.4(COL1A2):c.1705A>G (p.Lys569Glu)
|
rs2115910396
|
|
NM_000089.4(COL1A2):c.1707A>G (p.Lys569=)
|
|
|
NM_000089.4(COL1A2):c.1710A>T (p.Pro570=)
|
rs373341681
|
|
NM_000089.4(COL1A2):c.1710dup (p.Gly571fs)
|
|
|
NM_000089.4(COL1A2):c.1719+18T>C
|
|
|
NM_000089.4(COL1A2):c.1719+19A>G
|
|
|
NM_000089.4(COL1A2):c.1719+7A>T
|
rs1554396853
|
|
NM_000089.4(COL1A2):c.1720-19A>G
|
|
|
NM_000089.4(COL1A2):c.1720-4C>T
|
|
|
NM_000089.4(COL1A2):c.1727A>G (p.His576Arg)
|
|
|
NM_000089.4(COL1A2):c.1748G>C (p.Gly583Ala)
|
rs1554396983
|
|
NM_000089.4(COL1A2):c.1750C>A (p.Pro584Thr)
|
|
|
NM_000089.4(COL1A2):c.1757G>C (p.Gly586Ala)
|
rs121912907
|
|
NM_000089.4(COL1A2):c.1764+7G>A
|
|
|
NM_000089.4(COL1A2):c.1764+8T>C
|
|
|
NM_000089.4(COL1A2):c.1765-10C>T
|
|
|
NM_000089.4(COL1A2):c.1765-2del
|
|
|
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.1774G>A (p.Gly592Ser)
|
rs72658141
|
|
NM_000089.4(COL1A2):c.1775G>A (p.Gly592Asp)
|
|
|
NM_000089.4(COL1A2):c.1789A>G (p.Ser597Gly)
|
|
|
NM_000089.4(COL1A2):c.1793G>A (p.Gly598Asp)
|
rs72658142
|
|
NM_000089.4(COL1A2):c.1793G>C (p.Gly598Ala)
|
rs72658142
|
|
NM_000089.4(COL1A2):c.1797T>C (p.Ala599=)
|
|
|
NM_000089.4(COL1A2):c.1800C>T (p.Ala600=)
|
|
|
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)
|
rs72658143
|
|
NM_000089.4(COL1A2):c.1809del (p.Gly604fs)
|
rs1321582299
|
|
NM_000089.4(COL1A2):c.180C>A (p.Gly60=)
|
|
|
NM_000089.4(COL1A2):c.180C>T (p.Gly60=)
|
rs756659600
|
|
NM_000089.4(COL1A2):c.1811G>A (p.Gly604Asp)
|
rs2115917059
|
|
NM_000089.4(COL1A2):c.1816A>G (p.Ile606Val)
|
|
|
NM_000089.4(COL1A2):c.1826G>A (p.Arg609Gln)
|
|
|
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg)
|
rs1792044352
|
|
NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu)
|
rs2115917195
|
|
NM_000089.4(COL1A2):c.1840C>T (p.Pro614Ser)
|
|
|
NM_000089.4(COL1A2):c.1842C>A (p.Pro614=)
|
rs931023370
|
|
NM_000089.4(COL1A2):c.1846G>A (p.Gly616Arg)
|
|
|
NM_000089.4(COL1A2):c.1846G>C (p.Gly616Arg)
|
|
|
NM_000089.4(COL1A2):c.1854T>C (p.Asp618=)
|
|
|
NM_000089.4(COL1A2):c.1854_1856del (p.Asp618_Gly619delinsGlu)
|
rs2115917306
|
|
NM_000089.4(COL1A2):c.1863+11A>G
|
|
|
NM_000089.4(COL1A2):c.1863+12T>C
|
|
|
NM_000089.4(COL1A2):c.1863+6dup
|
|
|
NM_000089.4(COL1A2):c.1863G>A (p.Lys621=)
|
|
|
NM_000089.4(COL1A2):c.1864-16A>G
|
|
|
NM_000089.4(COL1A2):c.1864-18A>G
|
|
|
NM_000089.4(COL1A2):c.1864G>T (p.Gly622Cys)
|
rs2115921275
|
|
NM_000089.4(COL1A2):c.1873G>T (p.Gly625Cys)
|
rs193922162
|
|
NM_000089.4(COL1A2):c.1874G>C (p.Gly625Ala)
|
rs72658145
|
|
NM_000089.4(COL1A2):c.1883G>A (p.Gly628Asp)
|
|
|
NM_000089.4(COL1A2):c.1888G>A (p.Val630Met)
|
|
|
NM_000089.4(COL1A2):c.1890G>A (p.Val630=)
|
|
|
NM_000089.4(COL1A2):c.1892G>A (p.Gly631Asp)
|
rs1584324507
|
|
NM_000089.4(COL1A2):c.1892G>T (p.Gly631Val)
|
rs1584324507
|
|
NM_000089.4(COL1A2):c.1895C>G (p.Thr632Ser)
|
|
|
NM_000089.4(COL1A2):c.1898C>G (p.Ala633Gly)
|
rs2115921517
|
|
NM_000089.4(COL1A2):c.1902T>C (p.Gly634=)
|
|
|
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.1963G>A (p.Gly655Arg)
|
rs2115921786
|
|
NM_000089.4(COL1A2):c.1964G>A (p.Gly655Glu)
|
rs1554397275
|
|
NM_000089.4(COL1A2):c.1971+10G>C
|
|
|
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.1981G>C (p.Gly661Arg)
|
|
|
NM_000089.4(COL1A2):c.1981G>T (p.Gly661Cys)
|
rs72658152
|
|
NM_000089.4(COL1A2):c.1987A>G (p.Arg663Gly)
|
|
|
NM_000089.4(COL1A2):c.1990G>C (p.Gly664Arg)
|
|
|
NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp)
|
rs72658154
|
|
NM_000089.4(COL1A2):c.199C>T (p.Pro67Ser)
|
|
|
NM_000089.4(COL1A2):c.1A>T (p.Met1Leu)
|
|
|
NM_000089.4(COL1A2):c.2008G>A (p.Gly670Ser)
|
|
|
NM_000089.4(COL1A2):c.2018G>A (p.Gly673Asp)
|
rs2115924495
|
|
NM_000089.4(COL1A2):c.2025+13T>C
|
|
|
NM_000089.4(COL1A2):c.2025+4A>G
|
|
|
NM_000089.4(COL1A2):c.2025+7A>G
|
|
|
NM_000089.4(COL1A2):c.2026-19G>C
|
rs546549922
|
|
NM_000089.4(COL1A2):c.2026-1_2042dup
|
rs1584325529
|
|
NM_000089.4(COL1A2):c.2026-20T>C
|
|
|
NM_000089.4(COL1A2):c.2026-2A>G
|
|
|
NM_000089.4(COL1A2):c.2026-5A>G
|
|
|
NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp)
|
rs66883877
|
|
NM_000089.4(COL1A2):c.2036G>C (p.Gly679Ala)
|
rs2115927860
|
|
NM_000089.4(COL1A2):c.2038_2055dup (p.Gly685_Pro686insAlaValGlyAlaProGly)
|
|
|
NM_000089.4(COL1A2):c.2040T>C (p.Ala680=)
|
rs2115927910
|
|
NM_000089.4(COL1A2):c.2046T>A (p.Gly682=)
|
rs2115927971
|
|
NM_000089.4(COL1A2):c.2053G>T (p.Gly685Cys)
|
|
|
NM_000089.4(COL1A2):c.2063G>A (p.Gly688Glu)
|
rs1792108068
|
|
NM_000089.4(COL1A2):c.2074G>A (p.Asp692Asn)
|
|
|
NM_000089.4(COL1A2):c.2079+11A>G
|
|
|
NM_000089.4(COL1A2):c.2079+15dup
|
|
|
NM_000089.4(COL1A2):c.2079+9G>A
|
|
|
NM_000089.4(COL1A2):c.207C>A (p.Gly69=)
|
|
|
NM_000089.4(COL1A2):c.207C>G (p.Gly69=)
|
|
|
NM_000089.4(COL1A2):c.2080-11T>C
|
rs983048164
|
|
NM_000089.4(COL1A2):c.2080-15T>G
|
|
|
NM_000089.4(COL1A2):c.2080-20C>A
|
|
|
NM_000089.4(COL1A2):c.2080-20C>T
|
|
|
NM_000089.4(COL1A2):c.2080G>A (p.Gly694Ser)
|
rs121912908
|
|
NM_000089.4(COL1A2):c.2081G>A (p.Gly694Asp)
|
|
|
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=)
|
rs193229878
|
|
NM_000089.4(COL1A2):c.2082C>T (p.Gly694=)
|
rs193229878
|
|
NM_000089.4(COL1A2):c.2083G>A (p.Glu695Lys)
|
|
|
NM_000089.4(COL1A2):c.2088T>A (p.Ala696=)
|
|
|
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.2097T>C (p.Ala699=)
|
|
|
NM_000089.4(COL1A2):c.2098G>C (p.Gly700Arg)
|
rs72658160
|
|
NM_000089.4(COL1A2):c.2101C>G (p.Pro701Ala)
|
|
|
NM_000089.4(COL1A2):c.2107G>T (p.Gly703Cys)
|
|
|
NM_000089.4(COL1A2):c.210C>G (p.Pro70=)
|
rs1791665131
|
|
NM_000089.4(COL1A2):c.2113G>T (p.Ala705Ser)
|
|
|
NM_000089.4(COL1A2):c.2123G>C (p.Arg708Pro)
|
rs72658163
|
|
NM_000089.4(COL1A2):c.2133+12C>A
|
rs554520173
|
|
NM_000089.4(COL1A2):c.2133+19C>A
|
|
|
NM_000089.4(COL1A2):c.2133+6T>A
|
rs72658164
|
|
NM_000089.4(COL1A2):c.2133+8A>C
|
rs1554397570
|
|
NM_000089.4(COL1A2):c.2134-14del
|
|
|
NM_000089.4(COL1A2):c.2134-4C>T
|
|
|
NM_000089.4(COL1A2):c.2134-8C>G
|
rs1792132576
|
|
NM_000089.4(COL1A2):c.2140C>G (p.Arg714Gly)
|
|
|
NM_000089.4(COL1A2):c.2141G>T (p.Arg714Leu)
|
rs773392397
|
|
NM_000089.4(COL1A2):c.2145T>G (p.Gly715=)
|
|
|
NM_000089.4(COL1A2):c.2152G>A (p.Gly718Ser)
|
rs72658168
|
|
NM_000089.4(COL1A2):c.2168A>T (p.Asn723Ile)
|
rs189374343
|
|
NM_000089.4(COL1A2):c.2179G>C (p.Gly727Arg)
|
|
|
NM_000089.4(COL1A2):c.2187+13T>G
|
|
|
NM_000089.4(COL1A2):c.2187+15A>G
|
|
|
NM_000089.4(COL1A2):c.2187+6T>A
|
rs794727585
|
|
NM_000089.4(COL1A2):c.2188-11dup
|
|
|
NM_000089.4(COL1A2):c.2188-12T>C
|
|
|
NM_000089.4(COL1A2):c.2188-6_2188-1dup
|
|
|
NM_000089.4(COL1A2):c.2188-7C>T
|
|
|
NM_000089.4(COL1A2):c.2188G>A (p.Gly730Ser)
|
rs72658171
|
|
NM_000089.4(COL1A2):c.2194G>A (p.Ala732Thr)
|
|
|
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys)
|
rs72658173
|
|
NM_000089.4(COL1A2):c.2215G>C (p.Gly739Arg)
|
rs72658174
|
|
NM_000089.4(COL1A2):c.222T>C (p.Gly74=)
|
|
|
NM_000089.4(COL1A2):c.2242G>A (p.Gly748Ser)
|
rs1562905246
|
|
NM_000089.4(COL1A2):c.2245G>C (p.Glu749Gln)
|
|
|
NM_000089.4(COL1A2):c.225+15G>A
|
|
|
NM_000089.4(COL1A2):c.2251G>A (p.Gly751Ser)
|
rs72658176
|
|
NM_000089.4(COL1A2):c.2252G>T (p.Gly751Val)
|
rs1792139807
|
|
NM_000089.4(COL1A2):c.226-16T>C
|
rs542458716
|
|
NM_000089.4(COL1A2):c.226-2A>G
|
rs72656355
|
|
NM_000089.4(COL1A2):c.226-7T>C
|
rs2115865163
|
|
NM_000089.4(COL1A2):c.2260G>T (p.Gly754Cys)
|
rs72658177
|
|
NM_000089.4(COL1A2):c.2262T>C (p.Gly754=)
|
|
|
NM_000089.4(COL1A2):c.2276T>C (p.Val759Ala)
|
|
|
NM_000089.4(COL1A2):c.2277T>C (p.Val759=)
|
|
|
NM_000089.4(COL1A2):c.2278G>A (p.Gly760Arg)
|
rs1584326393
|
|
NM_000089.4(COL1A2):c.2279G>T (p.Gly760Val)
|
rs1792140624
|
|
NM_000089.4(COL1A2):c.2280A>G (p.Gly760=)
|
|
|
NM_000089.4(COL1A2):c.2282C>G (p.Ala761Gly)
|
|
|
NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp)
|
rs72658179
|
|
NM_000089.4(COL1A2):c.2295+15C>G
|
rs1359360545
|
|
NM_000089.4(COL1A2):c.2295+1G>A
|
|
|
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.2296-9del
|
rs1193169956
|
|
NM_000089.4(COL1A2):c.2296G>A (p.Gly766Ser)
|
rs72658182
|
|
NM_000089.4(COL1A2):c.2296G>C (p.Gly766Arg)
|
rs72658182
|
|
NM_000089.4(COL1A2):c.22C>T (p.Arg8Trp)
|
|
|
NM_000089.4(COL1A2):c.2301A>T (p.Pro767=)
|
|
|
NM_000089.4(COL1A2):c.2305G>A (p.Gly769Ser)
|
|
|
NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys)
|
rs1792147522
|
|
NM_000089.4(COL1A2):c.2313C>A (p.Pro771=)
|
|
|
NM_000089.4(COL1A2):c.2313C>G (p.Pro771=)
|
rs144837722
|
|
NM_000089.4(COL1A2):c.2313C>T (p.Pro771=)
|
rs144837722
|
|
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)
|
rs72658185
|
|
NM_000089.4(COL1A2):c.2314G>C (p.Gly772Arg)
|
rs72658185
|
|
NM_000089.4(COL1A2):c.2316T>C (p.Gly772=)
|
|
|
NM_000089.4(COL1A2):c.2323G>C (p.Gly775Arg)
|
rs2115933691
|
|
NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu)
|
rs1792148801
|
|
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.2330GTG[1] (p.Gly778del)
|
|
|
NM_000089.4(COL1A2):c.2330GTG[3] (p.Gly778_Asp779insGly)
|
|
|
NM_000089.4(COL1A2):c.2333G>C (p.Gly778Ala)
|
rs2115933783
|
|
NM_000089.4(COL1A2):c.2341G>C (p.Gly781Arg)
|
rs1792149726
|
|
NM_000089.4(COL1A2):c.2345C>T (p.Pro782Leu)
|
|
|
NM_000089.4(COL1A2):c.2348dup (p.Gly784fs)
|
|
|
NM_000089.4(COL1A2):c.2349+3G>A
|
|
|
NM_000089.4(COL1A2):c.2350-20C>G
|
|
|
NM_000089.4(COL1A2):c.2359G>T (p.Gly787Cys)
|
|
|
NM_000089.4(COL1A2):c.2360G>C (p.Gly787Ala)
|
rs2115936945
|
|
NM_000089.4(COL1A2):c.2381G>A (p.Arg794Gln)
|
|
|
NM_000089.4(COL1A2):c.2385T>G (p.Thr795=)
|
|
|
NM_000089.4(COL1A2):c.2387G>C (p.Gly796Ala)
|
rs72658189
|
|
NM_000089.4(COL1A2):c.2398C>G (p.Pro800Ala)
|
|
|
NM_000089.4(COL1A2):c.2403+14T>C
|
|
|
NM_000089.4(COL1A2):c.2403+20C>T
|
|
|
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.2406T>C (p.Gly802=)
|
rs1792198032
|
|
NM_000089.4(COL1A2):c.2413G>T (p.Gly805Cys)
|
rs72658190
|
|
NM_000089.4(COL1A2):c.2422G>A (p.Gly808Ser)
|
rs763053421
|
|
NM_000089.4(COL1A2):c.2427_2435dup (p.Pro812_Ala813insProGlyPro)
|
|
|
NM_000089.4(COL1A2):c.2429C>G (p.Pro810Arg)
|
|
|
NM_000089.4(COL1A2):c.2431G>A (p.Gly811Ser)
|
rs2115940948
|
|
NM_000089.4(COL1A2):c.2441G>A (p.Gly814Glu)
|
rs1554397975
|
|
NM_000089.4(COL1A2):c.2449G>T (p.Gly817Trp)
|
rs2115941022
|
|
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.2472C>T (p.Asp824=)
|
|
|
NM_000089.4(COL1A2):c.2474A>C (p.Gln825Pro)
|
rs556922843
|
|
NM_000089.4(COL1A2):c.2474A>G (p.Gln825Arg)
|
|
|
NM_000089.4(COL1A2):c.2481A>T (p.Pro827=)
|
|
|
NM_000089.4(COL1A2):c.2482G>T (p.Val828Phe)
|
|
|
NM_000089.4(COL1A2):c.2488C>G (p.Arg830Gly)
|
|
|
NM_000089.4(COL1A2):c.2508A>G (p.Ala836=)
|
rs563505012
|
|
NM_000089.4(COL1A2):c.2509G>A (p.Val837Ile)
|
|
|
NM_000089.4(COL1A2):c.2515C>T (p.Pro839Ser)
|
|
|
NM_000089.4(COL1A2):c.2521G>A (p.Gly841Ser)
|
rs72658194
|
|
NM_000089.4(COL1A2):c.2539G>A (p.Gly847Ser)
|
|
|
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.2554G>A (p.Ala852Thr)
|
|
|
NM_000089.4(COL1A2):c.2554G>T (p.Ala852Ser)
|
|
|
NM_000089.4(COL1A2):c.2558G>C (p.Gly853Ala)
|
|
|
NM_000089.4(COL1A2):c.255A>C (p.Gly85=)
|
|
|
NM_000089.4(COL1A2):c.255A>G (p.Gly85=)
|
rs772309296
|
|
NM_000089.4(COL1A2):c.2563G>A (p.Ala855Thr)
|
rs541473356
|
|
NM_000089.4(COL1A2):c.2565+12C>A
|
|
|
NM_000089.4(COL1A2):c.2565+15A>G
|
|
|
NM_000089.4(COL1A2):c.2565+1G>A
|
rs72658198
|
|
NM_000089.4(COL1A2):c.2565+1G>C
|
rs72658198
|
|
NM_000089.4(COL1A2):c.2565+2T>A
|
rs2115941689
|
|
NM_000089.4(COL1A2):c.2565+3_2565+6del
|
rs1584328061
|
|
NM_000089.4(COL1A2):c.2565+7G>C
|
rs368445054
|
|
NM_000089.4(COL1A2):c.2566-10dup
|
|
|
NM_000089.4(COL1A2):c.2566-9T>C
|
|
|
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr)
|
rs150179964
|
|
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser)
|
rs150179964
|
|
NM_000089.4(COL1A2):c.2576G>A (p.Gly859Asp)
|
|
|
NM_000089.4(COL1A2):c.2595T>C (p.Gly865=)
|
|
|
NM_000089.4(COL1A2):c.2596C>G (p.Leu866Val)
|
rs538945650
|
|
NM_000089.4(COL1A2):c.2596CTT[1] (p.Leu867del)
|
|
|
NM_000089.4(COL1A2):c.2603G>C (p.Gly868Ala)
|
rs2115946426
|
|
NM_000089.4(COL1A2):c.2622T>A (p.Gly874=)
|
rs769128071
|
|
NM_000089.4(COL1A2):c.2625C>G (p.Leu875=)
|
rs1300787252
|
|
NM_000089.4(COL1A2):c.2640T>G (p.Gly880=)
|
|
|
NM_000089.4(COL1A2):c.2652A>G (p.Leu884=)
|
rs767163464
|
|
NM_000089.4(COL1A2):c.265G>C (p.Gly89Arg)
|
|
|
NM_000089.4(COL1A2):c.266G>T (p.Gly89Val)
|
|
|
NM_000089.4(COL1A2):c.2673+15G>A
|
|
|
NM_000089.4(COL1A2):c.2673+20C>T
|
rs2115947001
|
|
NM_000089.4(COL1A2):c.2673+6T>A
|
|
|
NM_000089.4(COL1A2):c.2673+7G>T
|
|
|
NM_000089.4(COL1A2):c.2673+9T>C
|
rs2115946928
|
|
NM_000089.4(COL1A2):c.2673G>A (p.Val891=)
|
rs1114167364
|
|
NM_000089.4(COL1A2):c.2674-6G>C
|
rs771442891
|
|
NM_000089.4(COL1A2):c.2675G>A (p.Gly892Asp)
|
rs72659304
|
|
NM_000089.4(COL1A2):c.2711G>C (p.Gly904Ala)
|
|
|
NM_000089.4(COL1A2):c.2711G>T (p.Gly904Val)
|
|
|
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.2719G>A (p.Gly907Ser)
|
rs1554398251
|
|
NM_000089.4(COL1A2):c.271G>T (p.Gly91Ter)
|
rs764355552
|
|
NM_000089.4(COL1A2):c.2727T>A (p.Pro909=)
|
rs2115949635
|
|
NM_000089.4(COL1A2):c.2729G>A (p.Gly910Asp)
|
|
|
NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser)
|
rs1305819869
|
|
NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp)
|
|
|
NM_000089.4(COL1A2):c.2739T>G (p.Gly913=)
|
|
|
NM_000089.4(COL1A2):c.2740A>G (p.Ser914Gly)
|
|
|
NM_000089.4(COL1A2):c.2746G>A (p.Gly916Arg)
|
rs72659308
|
|
NM_000089.4(COL1A2):c.2755G>T (p.Gly919Cys)
|
rs749621872
|
|
NM_000089.4(COL1A2):c.2756G>A (p.Gly919Asp)
|
rs1554398261
|
|
NM_000089.4(COL1A2):c.2758G>T (p.Ala920Ser)
|
|
|
NM_000089.4(COL1A2):c.2771C>G (p.Ala924Gly)
|
|
|
NM_000089.4(COL1A2):c.2775T>A (p.Gly925=)
|
|
|
NM_000089.4(COL1A2):c.2776C>T (p.Arg926Cys)
|
|
|
NM_000089.4(COL1A2):c.2781+16G>A
|
|
|
NM_000089.4(COL1A2):c.2782-11T>C
|
|
|
NM_000089.4(COL1A2):c.2782-13G>A
|
|
|
NM_000089.4(COL1A2):c.2782-18T>G
|
|
|
NM_000089.4(COL1A2):c.2782-8C>G
|
|
|
NM_000089.4(COL1A2):c.2784C>A (p.Gly928=)
|
|
|
NM_000089.4(COL1A2):c.278T>C (p.Met93Thr)
|
|
|
NM_000089.4(COL1A2):c.279+2T>C
|
rs72656357
|
|
NM_000089.4(COL1A2):c.279+3A>G
|
|
|
NM_000089.4(COL1A2):c.279+7T>A
|
|
|
NM_000089.4(COL1A2):c.2791G>A (p.Gly931Arg)
|
rs1792256171
|
|
NM_000089.4(COL1A2):c.279G>A (p.Met93Ile)
|
rs72656356
|
|
NM_000089.4(COL1A2):c.280-16T>C
|
|
|
NM_000089.4(COL1A2):c.280-17A>C
|
|
|
NM_000089.4(COL1A2):c.280-2A>G
|
rs2115874899
|
|
NM_000089.4(COL1A2):c.280-2del
|
|
|
NM_000089.4(COL1A2):c.280-7_280-3del
|
rs2115874855
|
|
NM_000089.4(COL1A2):c.280G>A (p.Gly94Ser)
|
|
|
NM_000089.4(COL1A2):c.2819G>T (p.Gly940Val)
|
rs1792257312
|
|
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)
|
rs193922165
|
|
NM_000089.4(COL1A2):c.2830C>T (p.His944Tyr)
|
rs1476399806
|
|
NM_000089.4(COL1A2):c.2832C>T (p.His944=)
|
|
|
NM_000089.4(COL1A2):c.2835+1G>A
|
rs72659310
|
|
NM_000089.4(COL1A2):c.2835+1G>T
|
|
|
NM_000089.4(COL1A2):c.2836-20del
|
|
|
NM_000089.4(COL1A2):c.2837G>C (p.Gly946Ala)
|
|
|
NM_000089.4(COL1A2):c.2841G>A (p.Glu947=)
|
rs1562907108
|
|
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)
|
rs779303344
|
|
NM_000089.4(COL1A2):c.2844C>T (p.Arg948=)
|
rs772555004
|
|
NM_000089.4(COL1A2):c.2845G>A (p.Gly949Ser)
|
rs72659312
|
|
NM_000089.4(COL1A2):c.2858A>G (p.Asn953Ser)
|
|
|
NM_000089.4(COL1A2):c.285A>G (p.Leu95=)
|
rs918955690
|
|
NM_000089.4(COL1A2):c.2865T>C (p.Gly955=)
|
|
|
NM_000089.4(COL1A2):c.2869G>A (p.Val957Ile)
|
|
|
NM_000089.4(COL1A2):c.2879C>T (p.Ala960Val)
|
rs1482901474
|
|
NM_000089.4(COL1A2):c.2880A>T (p.Ala960=)
|
|
|
NM_000089.4(COL1A2):c.2882G>A (p.Gly961Asp)
|
|
|
NM_000089.4(COL1A2):c.2904C>G (p.Pro968=)
|
rs142352627
|
|
NM_000089.4(COL1A2):c.2913T>C (p.Pro971=)
|
rs2115952533
|
|
NM_000089.4(COL1A2):c.2918G>A (p.Gly973Asp)
|
|
|
NM_000089.4(COL1A2):c.2937T>C (p.Gly979=)
|
rs1584329988
|
|
NM_000089.4(COL1A2):c.2939A>G (p.Glu980Gly)
|
rs2115952651
|
|
NM_000089.4(COL1A2):c.2943+10T>C
|
|
|
NM_000089.4(COL1A2):c.2943+1G>C
|
rs1562907190
|
|
NM_000089.4(COL1A2):c.2944-14T>G
|
|
|
NM_000089.4(COL1A2):c.2944-16C>T
|
rs373903050
|
|
NM_000089.4(COL1A2):c.2944G>A (p.Gly982Ser)
|
rs1792269292
|
|
NM_000089.4(COL1A2):c.2947C>T (p.Pro983Ser)
|
|
|
NM_000089.4(COL1A2):c.2953G>A (p.Gly985Ser)
|
rs2115953343
|
|
NM_000089.4(COL1A2):c.2960T>C (p.Val987Ala)
|
rs1584330105
|
|
NM_000089.4(COL1A2):c.2961T>G (p.Val987=)
|
rs1584330108
|
|
NM_000089.4(COL1A2):c.2962G>T (p.Gly988Cys)
|
|
|
NM_000089.4(COL1A2):c.2964T>C (p.Gly988=)
|
|
|
NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup)
|
rs1554398396
|
|
NM_000089.4(COL1A2):c.2977G>C (p.Val993Leu)
|
rs1792270576
|
|
NM_000089.4(COL1A2):c.2985A>G (p.Pro995=)
|
|
|
NM_000089.4(COL1A2):c.2997+11G>C
|
|
|
NM_000089.4(COL1A2):c.2997+6T>A
|
rs1584330154
|
|
NM_000089.4(COL1A2):c.2998-12G>A
|
|
|
NM_000089.4(COL1A2):c.2998-18C>T
|
|
|
NM_000089.4(COL1A2):c.2998-19T>A
|
rs768118794
|
|
NM_000089.4(COL1A2):c.2998-19T>C
|
|
|
NM_000089.4(COL1A2):c.299G>T (p.Gly100Val)
|
rs1584315950
|
|
NM_000089.4(COL1A2):c.29T>G (p.Leu10Trp)
|
|
|
NM_000089.4(COL1A2):c.3000C>T (p.Gly1000=)
|
rs1554398439
|
|
NM_000089.4(COL1A2):c.3006A>G (p.Gln1002=)
|
|
|
NM_000089.4(COL1A2):c.3009C>T (p.Gly1003=)
|
|
|
NM_000089.4(COL1A2):c.3013C>T (p.Arg1005Cys)
|
|
|
NM_000089.4(COL1A2):c.3026G>C (p.Gly1009Ala)
|
|
|
NM_000089.4(COL1A2):c.302C>T (p.Pro101Leu)
|
|
|
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)
|
rs72659319
|
|
NM_000089.4(COL1A2):c.3036T>G (p.Gly1012=)
|
|
|
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.306T>C (p.Pro102=)
|
|
|
NM_000089.4(COL1A2):c.3074A>G (p.His1025Arg)
|
|
|
NM_000089.4(COL1A2):c.308G>A (p.Gly103Asp)
|
|
|
NM_000089.4(COL1A2):c.3090T>A (p.Gly1030=)
|
|
|
NM_000089.4(COL1A2):c.3105+16C>A
|
|
|
NM_000089.4(COL1A2):c.3105+16C>T
|
|
|
NM_000089.4(COL1A2):c.3105+8A>G
|
|
|
NM_000089.4(COL1A2):c.3106-10G>A
|
|
|
NM_000089.4(COL1A2):c.3106-14T>C
|
|
|
NM_000089.4(COL1A2):c.3106-16T>C
|
|
|
NM_000089.4(COL1A2):c.3106G>T (p.Gly1036Cys)
|
rs72659325
|
|
NM_000089.4(COL1A2):c.3118G>T (p.Asp1040Tyr)
|
|
|
NM_000089.4(COL1A2):c.3124G>A (p.Gly1042Ser)
|
rs72659327
|
|
NM_000089.4(COL1A2):c.3127G>A (p.Ala1043Thr)
|
|
|
NM_000089.4(COL1A2):c.3130C>T (p.Pro1044Ser)
|
|
|
NM_000089.4(COL1A2):c.3135C>A (p.Gly1045=)
|
rs1800248
|
|
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=)
|
rs1800248
|
|
NM_000089.4(COL1A2):c.3143G>A (p.Gly1048Asp)
|
|
|
NM_000089.4(COL1A2):c.3152G>C (p.Gly1051Ala)
|
rs2115957255
|
|
NM_000089.4(COL1A2):c.3159+15G>A
|
|
|
NM_000089.4(COL1A2):c.3159+1G>A
|
|
|
NM_000089.4(COL1A2):c.3159+3A>C
|
rs2115957293
|
|
NM_000089.4(COL1A2):c.3159+6T>A
|
rs2115957317
|
|
NM_000089.4(COL1A2):c.3159+8G>A
|
|
|
NM_000089.4(COL1A2):c.3160-19T>C
|
|
|
NM_000089.4(COL1A2):c.3163C>T (p.Pro1055Ser)
|
|
|
NM_000089.4(COL1A2):c.3170G>A (p.Gly1057Asp)
|
rs2115957747
|
|
NM_000089.4(COL1A2):c.3176C>T (p.Ser1059Phe)
|
|
|
NM_000089.4(COL1A2):c.3177T>C (p.Ser1059=)
|
|
|
NM_000089.4(COL1A2):c.317G>A (p.Gly106Glu)
|
rs2115875189
|
|
NM_000089.4(COL1A2):c.3200G>T (p.Arg1067Leu)
|
|
|
NM_000089.4(COL1A2):c.3207A>G (p.Gly1069=)
|
rs2115957872
|
|
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.3225A>G (p.Gly1075=)
|
rs756009155
|
|
NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser)
|
rs763974489
|
|
NM_000089.4(COL1A2):c.3227C>A (p.Pro1076His)
|
|
|
NM_000089.4(COL1A2):c.3228T>C (p.Pro1076=)
|
|
|
NM_000089.4(COL1A2):c.3233G>A (p.Gly1078Asp)
|
rs72659332
|
|
NM_000089.4(COL1A2):c.3233G>T (p.Gly1078Val)
|
|
|
NM_000089.4(COL1A2):c.3234C>T (p.Gly1078=)
|
|
|
NM_000089.4(COL1A2):c.3238C>T (p.Arg1080Ter)
|
rs780395429
|
|
NM_000089.4(COL1A2):c.324+14G>A
|
|
|
NM_000089.4(COL1A2):c.3249G>T (p.Gln1083His)
|
|
|
NM_000089.4(COL1A2):c.325-19C>T
|
|
|
NM_000089.4(COL1A2):c.325-20A>G
|
rs2115875469
|
|
NM_000089.4(COL1A2):c.325-9T>C
|
|
|
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)
|
rs1792298693
|
|
NM_000089.4(COL1A2):c.325G>C (p.Gly109Arg)
|
|
|
NM_000089.4(COL1A2):c.3260G>T (p.Gly1087Val)
|
rs72659335
|
|
NM_000089.4(COL1A2):c.3267+5G>C
|
rs2115958193
|
|
NM_000089.4(COL1A2):c.3268-19C>T
|
|
|
NM_000089.4(COL1A2):c.3268G>A (p.Gly1090Ser)
|
|
|
NM_000089.4(COL1A2):c.3270C>T (p.Gly1090=)
|
|
|
NM_000089.4(COL1A2):c.3276del (p.Gly1093fs)
|
rs1173518955
|
|
NM_000089.4(COL1A2):c.3277G>C (p.Gly1093Arg)
|
rs2115959456
|
|
NM_000089.4(COL1A2):c.3279_3287dup (p.1091PPG[5])
|
rs74315103
|
|
NM_000089.4(COL1A2):c.3287G>A (p.Gly1096Asp)
|
|
|
NM_000089.4(COL1A2):c.3289C>T (p.Pro1097Ser)
|
|
|
NM_000089.4(COL1A2):c.32T>C (p.Leu11Ser)
|
|
|
NM_000089.4(COL1A2):c.3305G>A (p.Gly1102Asp)
|
|
|
NM_000089.4(COL1A2):c.3312C>T (p.Ser1104=)
|
|
|
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.334G>A (p.Gly112Ser)
|
rs1554395411
|
|
NM_000089.4(COL1A2):c.3350A>G (p.Tyr1117Cys)
|
rs2115959866
|
|
NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro)
|
rs193922168
|
|
NM_000089.4(COL1A2):c.3358G>A (p.Asp1120Asn)
|
rs2115959912
|
|
NM_000089.4(COL1A2):c.3359A>G (p.Asp1120Gly)
|
rs2115959926
|
|
NM_000089.4(COL1A2):c.335G>A (p.Gly112Asp)
|
rs1791759246
|
|
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.343G>A (p.Gly115Arg)
|
rs1791759301
|
|
NM_000089.4(COL1A2):c.3443C>T (p.Thr1148Ile)
|
|
|
NM_000089.4(COL1A2):c.3444C>T (p.Thr1148=)
|
|
|
NM_000089.4(COL1A2):c.3453T>G (p.Thr1151=)
|
|
|
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.348T>C (p.Pro116=)
|
|
|
NM_000089.4(COL1A2):c.3495C>G (p.Asp1165Glu)
|
rs72659340
|
|
NM_000089.4(COL1A2):c.3502C>A (p.Leu1168Ile)
|
|
|
NM_000089.4(COL1A2):c.350C>T (p.Ala117Val)
|
|
|
NM_000089.4(COL1A2):c.3526+12T>C
|
|
|
NM_000089.4(COL1A2):c.3526+15C>G
|
|
|
NM_000089.4(COL1A2):c.3526+17A>G
|
|
|
NM_000089.4(COL1A2):c.3526+3A>G
|
|
|
NM_000089.4(COL1A2):c.3527-4A>T
|
rs888826541
|
|
NM_000089.4(COL1A2):c.3532_3543del (p.Tyr1178_Asp1181del)
|
rs1554398685
|
|
NM_000089.4(COL1A2):c.353G>A (p.Gly118Asp)
|
|
|
NM_000089.4(COL1A2):c.353G>T (p.Gly118Val)
|
rs72656358
|
|
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.3573C>A (p.Ile1191=)
|
|
|
NM_000089.4(COL1A2):c.3575A>G (p.Lys1192Arg)
|
|
|
NM_000089.4(COL1A2):c.3583T>A (p.Cys1195Ser)
|
|
|
NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)
|
rs2115962248
|
|
NM_000089.4(COL1A2):c.3583_3597del (p.Cys1195_Thr1199del)
|
rs2115962258
|
|
NM_000089.4(COL1A2):c.3584G>C (p.Cys1195Ser)
|
|
|
NM_000089.4(COL1A2):c.3586G>T (p.Asp1196Tyr)
|
rs1792329797
|
|
NM_000089.4(COL1A2):c.3601G>A (p.Glu1201Lys)
|
|
|
NM_000089.4(COL1A2):c.3612C>T (p.Ile1204=)
|
|
|
NM_000089.4(COL1A2):c.3616G>C (p.Ala1206Pro)
|
rs200492800
|
|
NM_000089.4(COL1A2):c.3621A>G (p.Gln1207=)
|
rs2115962565
|
|
NM_000089.4(COL1A2):c.3621A>T (p.Gln1207His)
|
|
|
NM_000089.4(COL1A2):c.3625G>A (p.Glu1209Lys)
|
rs267601644
|
|
NM_000089.4(COL1A2):c.362G>A (p.Gly121Asp)
|
rs2115875700
|
|
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.3673C>T (p.His1225Tyr)
|
rs535142482
|
|
NM_000089.4(COL1A2):c.3678C>T (p.Val1226=)
|
|
|
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.36G>C (p.Leu12=)
|
rs1584310252
|
|
NM_000089.4(COL1A2):c.3711+10C>A
|
|
|
NM_000089.4(COL1A2):c.3711+3G>A
|
|
|
NM_000089.4(COL1A2):c.3711+6G>A
|
|
|
NM_000089.4(COL1A2):c.3712-7T>C
|
|
|
NM_000089.4(COL1A2):c.3720T>C (p.Tyr1240=)
|
|
|
NM_000089.4(COL1A2):c.3732A>G (p.Gly1244=)
|
|
|
NM_000089.4(COL1A2):c.3733G>A (p.Val1245Met)
|
|
|
NM_000089.4(COL1A2):c.3740C>A (p.Ser1247Tyr)
|
rs763721360
|
|
NM_000089.4(COL1A2):c.3748A>G (p.Met1250Val)
|
rs1792349508
|
|
NM_000089.4(COL1A2):c.3760C>T (p.Leu1254Phe)
|
|
|
NM_000089.4(COL1A2):c.3762T>C (p.Leu1254=)
|
rs1584332680
|
|
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.3774C>T (p.Arg1258=)
|
rs1434722026
|
|
NM_000089.4(COL1A2):c.3775C>T (p.Leu1259=)
|
|
|
NM_000089.4(COL1A2):c.3777G>T (p.Leu1259=)
|
rs1314683467
|
|
NM_000089.4(COL1A2):c.3783C>T (p.Ala1261=)
|
rs201393190
|
|
NM_000089.4(COL1A2):c.379-13C>T
|
|
|
NM_000089.4(COL1A2):c.379-3T>C
|
|
|
NM_000089.4(COL1A2):c.3797A>C (p.Gln1266Pro)
|
|
|
NM_000089.4(COL1A2):c.3815G>C (p.Cys1272Ser)
|
rs1554398835
|
|
NM_000089.4(COL1A2):c.3815G>T (p.Cys1272Phe)
|
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.3856C>T (p.Leu1286=)
|
rs1584332859
|
|
NM_000089.4(COL1A2):c.3858G>A (p.Leu1286=)
|
|
|
NM_000089.4(COL1A2):c.3865G>C (p.Ala1289Pro)
|
rs759477389
|
|
NM_000089.4(COL1A2):c.3866C>G (p.Ala1289Gly)
|
|
|
NM_000089.4(COL1A2):c.3868_3869dup (p.Ile1291fs)
|
rs1792353123
|
|
NM_000089.4(COL1A2):c.3880G>C (p.Gly1294Arg)
|
rs2115966913
|
|
NM_000089.4(COL1A2):c.3885T>C (p.Ser1295=)
|
|
|
NM_000089.4(COL1A2):c.3889G>A (p.Asp1297Asn)
|
|
|
NM_000089.4(COL1A2):c.3897A>C (p.Glu1299Asp)
|
|
|
NM_000089.4(COL1A2):c.3897A>G (p.Glu1299=)
|
rs1562908882
|
|
NM_000089.4(COL1A2):c.389G>T (p.Gly130Val)
|
rs72656360
|
|
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.3951C>A (p.Cys1317Ter)
|
|
|
NM_000089.4(COL1A2):c.3951C>T (p.Cys1317=)
|
|
|
NM_000089.4(COL1A2):c.3954+15A>T
|
|
|
NM_000089.4(COL1A2):c.3954+17T>C
|
|
|
NM_000089.4(COL1A2):c.3954+8_3954+10del
|
rs1792355337
|
|
NM_000089.4(COL1A2):c.3971G>A (p.Trp1324Ter)
|
rs2115969692
|
|
NM_000089.4(COL1A2):c.3974G>A (p.Gly1325Glu)
|
|
|
NM_000089.4(COL1A2):c.3977A>T (p.Lys1326Met)
|
rs943353660
|
|
NM_000089.4(COL1A2):c.398G>T (p.Gly133Val)
|
rs1562899031
|
|
NM_000089.4(COL1A2):c.3993C>T (p.Tyr1331=)
|
rs1053163831
|
|
NM_000089.4(COL1A2):c.4020C>G (p.Pro1340=)
|
|
|
NM_000089.4(COL1A2):c.4020C>T (p.Pro1340=)
|
rs138451009
|
|
NM_000089.4(COL1A2):c.4028A>G (p.Asp1343Gly)
|
|
|
NM_000089.4(COL1A2):c.402A>C (p.Pro134=)
|
|
|
NM_000089.4(COL1A2):c.402_413del (p.Ala135_Pro138del)
|
|
|
NM_000089.4(COL1A2):c.4047C>G (p.Ile1349Met)
|
|
|
NM_000089.4(COL1A2):c.4047C>T (p.Ile1349=)
|
rs144133431
|
|
NM_000089.4(COL1A2):c.4063G>T (p.Glu1355Ter)
|
rs760626067
|
|
NM_000089.4(COL1A2):c.4069T>C (p.Phe1357Leu)
|
|
|
NM_000089.4(COL1A2):c.407G>A (p.Gly136Asp)
|
rs1057524847
|
|
NM_000089.4(COL1A2):c.4098A>G (p.Lys1366=)
|
|
|
NM_000089.4(COL1A2):c.412C>T (p.Pro138Ser)
|
|
|
NM_000089.4(COL1A2):c.417C>T (p.Gly139=)
|
|
|
NM_000089.4(COL1A2):c.424G>A (p.Gly142Ser)
|
|
|
NM_000089.4(COL1A2):c.432+11A>T
|
|
|
NM_000089.4(COL1A2):c.432+16T>A
|
|
|
NM_000089.4(COL1A2):c.432+1G>A
|
rs1554395431
|
|
NM_000089.4(COL1A2):c.432+1G>C
|
|
|
NM_000089.4(COL1A2):c.432+1G>T
|
rs1554395431
|
|
NM_000089.4(COL1A2):c.432+4_432+7del
|
rs72656363
|
|
NM_000089.4(COL1A2):c.432+5G>A
|
rs72656364
|
|
NM_000089.4(COL1A2):c.433-10T>C
|
rs1791770493
|
|
NM_000089.4(COL1A2):c.433-14G>C
|
rs1465833801
|
|
NM_000089.4(COL1A2):c.433-16A>G
|
rs964597288
|
|
NM_000089.4(COL1A2):c.433-16A>T
|
|
|
NM_000089.4(COL1A2):c.433-1G>C
|
|
|
NM_000089.4(COL1A2):c.433-2A>C
|
rs1554395471
|
|
NM_000089.4(COL1A2):c.433-6G>A
|
|
|
NM_000089.4(COL1A2):c.434G>A (p.Gly145Asp)
|
|
|
NM_000089.4(COL1A2):c.439C>T (p.Pro147Ser)
|
rs1791770915
|
|
NM_000089.4(COL1A2):c.440C>G (p.Pro147Arg)
|
|
|
NM_000089.4(COL1A2):c.451G>A (p.Gly151Arg)
|
|
|
NM_000089.4(COL1A2):c.454C>T (p.Arg152Ter)
|
rs1791771616
|
|
NM_000089.4(COL1A2):c.456A>G (p.Arg152=)
|
|
|
NM_000089.4(COL1A2):c.463G>A (p.Glu155Lys)
|
rs1791771795
|
|
NM_000089.4(COL1A2):c.478G>A (p.Gly160Arg)
|
|
|
NM_000089.4(COL1A2):c.486+1G>A
|
|
|
NM_000089.4(COL1A2):c.487-11T>C
|
|
|
NM_000089.4(COL1A2):c.487-4_501del
|
rs74315146
|
|
NM_000089.4(COL1A2):c.487-9_487-7del
|
|
|
NM_000089.4(COL1A2):c.488G>T (p.Gly163Val)
|
|
|
NM_000089.4(COL1A2):c.490G>A (p.Ala164Thr)
|
|
|
NM_000089.4(COL1A2):c.500T>C (p.Phe167Ser)
|
|
|
NM_000089.4(COL1A2):c.505G>A (p.Gly169Arg)
|
rs2115879081
|
|
NM_000089.4(COL1A2):c.511C>T (p.Pro171Ser)
|
rs2115879087
|
|
NM_000089.4(COL1A2):c.515G>T (p.Gly172Val)
|
rs768263997
|
|
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.52T>G (p.Cys18Gly)
|
rs200278401
|
|
NM_000089.4(COL1A2):c.531A>C (p.Lys177Asn)
|
|
|
NM_000089.4(COL1A2):c.538_540+11del
|
|
|
NM_000089.4(COL1A2):c.540+19C>G
|
rs764155573
|
|
NM_000089.4(COL1A2):c.540+7A>C
|
|
|
NM_000089.4(COL1A2):c.540+8C>T
|
rs1064797337
|
|
NM_000089.4(COL1A2):c.540+9A>G
|
|
|
NM_000089.4(COL1A2):c.541-9T>C
|
|
|
NM_000089.4(COL1A2):c.541G>A (p.Gly181Arg)
|
rs1791793058
|
|
NM_000089.4(COL1A2):c.542G>A (p.Gly181Glu)
|
|
|
NM_000089.4(COL1A2):c.555G>A (p.Leu185=)
|
|
|
NM_000089.4(COL1A2):c.569G>A (p.Gly190Glu)
|
rs72656369
|
|
NM_000089.4(COL1A2):c.569G>T (p.Gly190Val)
|
|
|
NM_000089.4(COL1A2):c.576C>G (p.Pro192=)
|
rs140656978
|
|
NM_000089.4(COL1A2):c.576C>T (p.Pro192=)
|
|
|
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser)
|
rs72656370
|
|
NM_000089.4(COL1A2):c.577G>C (p.Gly193Arg)
|
|
|
NM_000089.4(COL1A2):c.581C>T (p.Ala194Val)
|
|
|
NM_000089.4(COL1A2):c.586G>A (p.Gly196Ser)
|
rs1057517953
|
|
NM_000089.4(COL1A2):c.586G>C (p.Gly196Arg)
|
|
|
NM_000089.4(COL1A2):c.586G>T (p.Gly196Cys)
|
rs1057517953
|
|
NM_000089.4(COL1A2):c.587G>A (p.Gly196Asp)
|
|
|
NM_000089.4(COL1A2):c.587G>T (p.Gly196Val)
|
|
|
NM_000089.4(COL1A2):c.58G>A (p.Ala20Thr)
|
|
|
NM_000089.4(COL1A2):c.594+11A>T
|
|
|
NM_000089.4(COL1A2):c.594+1G>T
|
rs2115881240
|
|
NM_000089.4(COL1A2):c.595-14C>T
|
|
|
NM_000089.4(COL1A2):c.595-2A>G
|
rs72656375
|
|
NM_000089.4(COL1A2):c.595-5T>C
|
|
|
NM_000089.4(COL1A2):c.595-5T>G
|
|
|
NM_000089.4(COL1A2):c.597T>C (p.Gly199=)
|
|
|
NM_000089.4(COL1A2):c.605G>A (p.Gly202Asp)
|
rs72656377
|
|
NM_000089.4(COL1A2):c.605G>T (p.Gly202Val)
|
rs72656377
|
|
NM_000089.4(COL1A2):c.612T>G (p.Pro204=)
|
rs2115886810
|
|
NM_000089.4(COL1A2):c.614G>C (p.Gly205Ala)
|
|
|
NM_000089.4(COL1A2):c.621T>C (p.Asn207=)
|
|
|
NM_000089.4(COL1A2):c.632G>A (p.Gly211Asp)
|
rs72656378
|
|
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.659G>A (p.Gly220Asp)
|
|
|
NM_000089.4(COL1A2):c.665G>C (p.Arg222Thr)
|
|
|
NM_000089.4(COL1A2):c.677G>A (p.Gly226Asp)
|
rs193922173
|
|
NM_000089.4(COL1A2):c.681C>G (p.Ala227=)
|
rs1791843396
|
|
NM_000089.4(COL1A2):c.685G>A (p.Gly229Ser)
|
|
|
NM_000089.4(COL1A2):c.693+1G>A
|
|
|
NM_000089.4(COL1A2):c.693+1G>C
|
rs72656381
|
|
NM_000089.4(COL1A2):c.693+2T>C
|
rs66516450
|
|
NM_000089.4(COL1A2):c.693+2dup
|
rs2115888133
|
|
NM_000089.4(COL1A2):c.693+6T>G
|
rs2115888140
|
|
NM_000089.4(COL1A2):c.694-10T>G
|
|
|
NM_000089.4(COL1A2):c.694-1G>C
|
|
|
NM_000089.4(COL1A2):c.694-5C>T
|
|
|
NM_000089.4(COL1A2):c.70+18G>A
|
|
|
NM_000089.4(COL1A2):c.70+8C>A
|
|
|
NM_000089.4(COL1A2):c.704G>A (p.Gly235Asp)
|
|
|
NM_000089.4(COL1A2):c.709G>A (p.Asp237Asn)
|
|
|
NM_000089.4(COL1A2):c.71-10_71-9insC
|
|
|
NM_000089.4(COL1A2):c.71-11T>C
|
|
|
NM_000089.4(COL1A2):c.71-7del
|
rs144776919
|
|
NM_000089.4(COL1A2):c.71-7dup
|
rs144776919
|
|
NM_000089.4(COL1A2):c.71-8_71-7dup
|
rs144776919
|
|
NM_000089.4(COL1A2):c.712G>A (p.Gly238Arg)
|
|
|
NM_000089.4(COL1A2):c.718G>A (p.Val240Met)
|
|
|
NM_000089.4(COL1A2):c.719T>C (p.Val240Ala)
|
|
|
NM_000089.4(COL1A2):c.731G>A (p.Gly244Asp)
|
rs1584318303
|
|
NM_000089.4(COL1A2):c.731G>T (p.Gly244Val)
|
rs1584318303
|
|
NM_000089.4(COL1A2):c.738+12C>T
|
|
|
NM_000089.4(COL1A2):c.738+17_738+19del
|
|
|
NM_000089.4(COL1A2):c.739-19C>T
|
|
|
NM_000089.4(COL1A2):c.739-3C>T
|
|
|
NM_000089.4(COL1A2):c.739G>C (p.Gly247Arg)
|
|
|
NM_000089.4(COL1A2):c.741T>C (p.Gly247=)
|
rs1584318604
|
|
NM_000089.4(COL1A2):c.749G>T (p.Gly250Val)
|
rs1562900513
|
|
NM_000089.4(COL1A2):c.767G>A (p.Gly256Asp)
|
rs67525025
|
|
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val)
|
rs67525025
|
|
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.784G>C (p.Gly262Arg)
|
rs1554395970
|
|
NM_000089.4(COL1A2):c.785G>A (p.Gly262Asp)
|
rs1791858238
|
|
NM_000089.4(COL1A2):c.790A>G (p.Lys264Glu)
|
|
|
NM_000089.4(COL1A2):c.792+6A>C
|
|
|
NM_000089.4(COL1A2):c.792G>A (p.Lys264=)
|
rs2115890442
|
|
NM_000089.4(COL1A2):c.792G>C (p.Lys264Asn)
|
rs2115890442
|
|
NM_000089.4(COL1A2):c.793-20G>C
|
rs770146997
|
|
NM_000089.4(COL1A2):c.793-8T>A
|
|
|
NM_000089.4(COL1A2):c.793G>C (p.Gly265Arg)
|
rs1114167417
|
|
NM_000089.4(COL1A2):c.794G>A (p.Gly265Asp)
|
rs72656386
|
|
NM_000089.4(COL1A2):c.794G>T (p.Gly265Val)
|
rs72656386
|
|
NM_000089.4(COL1A2):c.795T>A (p.Gly265=)
|
|
|
NM_000089.4(COL1A2):c.798A>C (p.Glu266Asp)
|
|
|
NM_000089.4(COL1A2):c.79G>A (p.Glu27Lys)
|
|
|
NM_000089.4(COL1A2):c.81+10A>C
|
rs750283092
|
|
NM_000089.4(COL1A2):c.81+11del
|
rs193922174
|
|
NM_000089.4(COL1A2):c.81+12T>A
|
|
|
NM_000089.4(COL1A2):c.81+17_81+18del
|
rs1791612191
|
|
NM_000089.4(COL1A2):c.812G>A (p.Gly271Asp)
|
|
|
NM_000089.4(COL1A2):c.817G>T (p.Ala273Ser)
|
|
|
NM_000089.4(COL1A2):c.81G>C (p.Glu27Asp)
|
rs2115851777
|
|
NM_000089.4(COL1A2):c.82-17G>C
|
|
|
NM_000089.4(COL1A2):c.82-6T>C
|
|
|
NM_000089.4(COL1A2):c.821G>A (p.Gly274Asp)
|
rs67675951
|
|
NM_000089.4(COL1A2):c.822T>C (p.Gly274=)
|
|
|
NM_000089.4(COL1A2):c.824C>T (p.Pro275Leu)
|
|
|
NM_000089.4(COL1A2):c.82G>A (p.Glu28Lys)
|
rs1479695906
|
|
NM_000089.4(COL1A2):c.830G>T (p.Gly277Val)
|
rs752431578
|
|
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.837C>T (p.Ala279=)
|
|
|
NM_000089.4(COL1A2):c.838G>T (p.Gly280Cys)
|
|
|
NM_000089.4(COL1A2):c.839G>C (p.Gly280Ala)
|
|
|
NM_000089.4(COL1A2):c.853G>T (p.Val285Leu)
|
|
|
NM_000089.4(COL1A2):c.854T>C (p.Val285Ala)
|
|
|
NM_000089.4(COL1A2):c.855G>A (p.Val285=)
|
|
|
NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser)
|
rs1114167418
|
|
NM_000089.4(COL1A2):c.856G>T (p.Gly286Cys)
|
|
|
NM_000089.4(COL1A2):c.857G>C (p.Gly286Ala)
|
rs67210352
|
|
NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser)
|
rs906553840
|
|
NM_000089.4(COL1A2):c.874G>C (p.Gly292Arg)
|
rs906553840
|
|
NM_000089.4(COL1A2):c.874G>T (p.Gly292Cys)
|
rs906553840
|
|
NM_000089.4(COL1A2):c.875G>T (p.Gly292Val)
|
rs1131692167
|
|
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.885A>G (p.Gly295=)
|
|
|
NM_000089.4(COL1A2):c.887C>A (p.Pro296His)
|
|
|
NM_000089.4(COL1A2):c.888T>G (p.Pro296=)
|
rs1554396039
|
|
NM_000089.4(COL1A2):c.890C>T (p.Pro297Leu)
|
|
|
NM_000089.4(COL1A2):c.891+11A>G
|
|
|
NM_000089.4(COL1A2):c.891+4A>G
|
|
|
NM_000089.4(COL1A2):c.891T>G (p.Pro297=)
|
|
|
NM_000089.4(COL1A2):c.892-15T>A
|
|
|
NM_000089.4(COL1A2):c.892-4A>G
|
rs749567968
|
|
NM_000089.4(COL1A2):c.892-7C>T
|
|
|
NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser)
|
rs72656389
|
|
NM_000089.4(COL1A2):c.893G>T (p.Gly298Val)
|
|
|
NM_000089.4(COL1A2):c.896A>C (p.Asn299Thr)
|
rs2115893108
|
|
NM_000089.4(COL1A2):c.896A>G (p.Asn299Ser)
|
|
|
NM_000089.4(COL1A2):c.900T>C (p.Pro300=)
|
|
|
NM_000089.4(COL1A2):c.901G>A (p.Gly301Arg)
|
rs2115893133
|
|
NM_000089.4(COL1A2):c.90A>G (p.Val30=)
|
rs766090050
|
|
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)
|
rs1054264002
|
|
NM_000089.4(COL1A2):c.920G>A (p.Gly307Asp)
|
rs72656390
|
|
NM_000089.4(COL1A2):c.921T>C (p.Gly307=)
|
rs2115893209
|
|
NM_000089.4(COL1A2):c.929G>T (p.Gly310Val)
|
|
|
NM_000089.4(COL1A2):c.936+10C>T
|
|
|
NM_000089.4(COL1A2):c.936+15G>A
|
|
|
NM_000089.4(COL1A2):c.937-10T>C
|
|
|
NM_000089.4(COL1A2):c.937-19A>G
|
rs779693879
|
|
NM_000089.4(COL1A2):c.937G>T (p.Gly313Cys)
|
|
|
NM_000089.4(COL1A2):c.956G>A (p.Gly319Glu)
|
rs1554396083
|
|
NM_000089.4(COL1A2):c.96+15C>T
|
|
|
NM_000089.4(COL1A2):c.96+20C>A
|
|
|
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)
|
rs72656394
|
|
NM_000089.4(COL1A2):c.966C>T (p.Gly322=)
|
|
|
NM_000089.4(COL1A2):c.97-11C>A
|
rs1791635232
|
|
NM_000089.4(COL1A2):c.97-5T>C
|
|
|
NM_000089.4(COL1A2):c.97-7C>T
|
|
|
NM_000089.4(COL1A2):c.970C>T (p.Pro324Ser)
|
rs2115894024
|
|
NM_000089.4(COL1A2):c.973G>C (p.Gly325Arg)
|
|
|
NM_000089.4(COL1A2):c.974G>T (p.Gly325Val)
|
|
|
NM_000089.4(COL1A2):c.976C>A (p.Pro326Thr)
|
rs1791879479
|
|
NM_000089.4(COL1A2):c.978C>G (p.Pro326=)
|
|
|
NM_000089.4(COL1A2):c.979C>T (p.Arg327Cys)
|
|
|
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)
|
rs66612022
|
|
NM_000089.4(COL1A2):c.98G>T (p.Gly33Val)
|
|
|
NM_000089.4(COL1A2):c.991G>A (p.Gly331Ser)
|
|
|