NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=)
|
rs62001059
|
0.00679
|
NM_000089.4(COL1A2):c.948C>T (p.Gly316=)
|
rs34511999
|
0.00566
|
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.1036-14G>A
|
rs114322680
|
0.00338
|
NM_000089.4(COL1A2):c.122G>A (p.Arg41His)
|
rs139528613
|
0.00310
|
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=)
|
rs141688356
|
0.00235
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
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.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
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.639+19A>T
|
rs183516726
|
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.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.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.2836-17C>T
|
rs370073620
|
0.00014
|
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=)
|
rs369434464
|
0.00014
|
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.1770A>G (p.Glu590=)
|
rs138019868
|
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.3186T>G (p.Ala1062=)
|
rs930277720
|
0.00009
|
NM_000089.4(COL1A2):c.739-4T>G
|
rs373527410
|
0.00009
|
NM_000089.4(COL1A2):c.3954+19T>C
|
rs369698720
|
0.00008
|
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.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.2250C>T (p.Asn750=)
|
rs372783567
|
0.00006
|
NM_000089.4(COL1A2):c.2796C>T (p.Asn932=)
|
rs757671800
|
0.00006
|
NM_000089.4(COL1A2):c.2943+12A>T
|
rs544894904
|
0.00006
|
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)
|
rs377278762
|
0.00006
|
NM_000089.4(COL1A2):c.81+15T>C
|
rs758384218
|
0.00006
|
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.2388T>C (p.Gly796=)
|
rs370623514
|
0.00005
|
NM_000089.4(COL1A2):c.3870C>T (p.Val1290=)
|
rs926855674
|
0.00005
|
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu)
|
rs370234887
|
0.00005
|
NM_000089.4(COL1A2):c.2481A>C (p.Pro827=)
|
rs142310831
|
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.3513A>G (p.Pro1171=)
|
rs936707370
|
0.00004
|
NM_000089.4(COL1A2):c.3600C>T (p.Gly1200=)
|
rs777362679
|
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.909C>T (p.Asn303=)
|
rs985639597
|
0.00004
|
NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile)
|
rs550867796
|
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.2403+7A>G
|
rs751913918
|
0.00003
|
NM_000089.4(COL1A2):c.2799T>C (p.Asp933=)
|
rs751960243
|
0.00003
|
NM_000089.4(COL1A2):c.2943+20T>C
|
rs777594155
|
0.00003
|
NM_000089.4(COL1A2):c.3200G>A (p.Arg1067His)
|
rs530026906
|
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.81+10A>G
|
rs750283092
|
0.00003
|
NM_000089.4(COL1A2):c.1036-10T>C
|
rs1363231522
|
0.00002
|
NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)
|
rs753455668
|
0.00002
|
NM_000089.4(COL1A2):c.1359T>C (p.Pro453=)
|
rs768981392
|
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.2782-20T>C
|
rs369687449
|
0.00002
|
NM_000089.4(COL1A2):c.280-8C>T
|
rs371996944
|
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.3852C>A (p.Gly1284=)
|
rs663
|
0.00002
|
NM_000089.4(COL1A2):c.639+20T>C
|
rs771890345
|
0.00002
|
NM_000089.4(COL1A2):c.657T>G (p.Pro219=)
|
rs771837515
|
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.1071C>T (p.Ser357=)
|
rs752193830
|
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.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.1245C>T (p.Gly415=)
|
rs752359132
|
0.00001
|
NM_000089.4(COL1A2):c.132+7A>G
|
rs751380636
|
0.00001
|
NM_000089.4(COL1A2):c.1350+14T>A
|
rs377624499
|
0.00001
|
NM_000089.4(COL1A2):c.1377C>T (p.Ile459=)
|
rs770230919
|
0.00001
|
NM_000089.4(COL1A2):c.1419C>T (p.Ile473=)
|
rs543815305
|
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.1563T>C (p.Ala521=)
|
rs765688776
|
0.00001
|
NM_000089.4(COL1A2):c.1611+9T>A
|
rs200333208
|
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.1971+17A>G
|
rs1057524258
|
0.00001
|
NM_000089.4(COL1A2):c.1972-7C>T
|
rs776401729
|
0.00001
|
NM_000089.4(COL1A2):c.2026-19G>A
|
rs546549922
|
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.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.225+14C>T
|
rs751435484
|
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.2424T>C (p.Gly808=)
|
rs766541855
|
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.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.2673+8C>T
|
rs760346992
|
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.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.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.2925T>C (p.His975=)
|
rs754497392
|
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.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.324+15C>T
|
rs371250316
|
0.00001
|
NM_000089.4(COL1A2):c.3282C>T (p.Pro1094=)
|
rs753082771
|
0.00001
|
NM_000089.4(COL1A2):c.3303A>G (p.Pro1101=)
|
rs889862814
|
0.00001
|
NM_000089.4(COL1A2):c.3369C>T (p.Arg1123=)
|
rs1274009584
|
0.00001
|
NM_000089.4(COL1A2):c.3414T>C (p.Thr1138=)
|
rs757889815
|
0.00001
|
NM_000089.4(COL1A2):c.3711+20C>A
|
rs555027516
|
0.00001
|
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro)
|
rs757449082
|
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.426T>G (p.Gly142=)
|
rs750357212
|
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.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.693+12C>A
|
rs767990110
|
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.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.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.963C>T (p.Pro321=)
|
rs147021092
|
0.00001
|
NM_000089.3(COL1A2):c.[2188-4A>C];[2717G>A]
|
|
|
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.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.1036-5C>A
|
|
|
NM_000089.4(COL1A2):c.1041G>A (p.Glu347=)
|
rs1584319702
|
|
NM_000089.4(COL1A2):c.1050A>C (p.Pro350=)
|
rs1055249689
|
|
NM_000089.4(COL1A2):c.1089+14T>C
|
rs1259284980
|
|
NM_000089.4(COL1A2):c.1089+16A>G
|
|
|
NM_000089.4(COL1A2):c.1089+8del
|
rs1791895030
|
|
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.1101G>A (p.Gly367=)
|
rs1800237
|
|
NM_000089.4(COL1A2):c.1107A>G (p.Gln369=)
|
rs776853005
|
|
NM_000089.4(COL1A2):c.1134A>G (p.Glu378=)
|
|
|
NM_000089.4(COL1A2):c.114A>G (p.Arg38=)
|
rs1462108134
|
|
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.1251+11T>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.1252-8_1252-7del
|
rs35587403
|
|
NM_000089.4(COL1A2):c.1296A>G (p.Arg432=)
|
|
|
NM_000089.4(COL1A2):c.132+14G>T
|
|
|
NM_000089.4(COL1A2):c.133-17C>T
|
|
|
NM_000089.4(COL1A2):c.133-19C>G
|
|
|
NM_000089.4(COL1A2):c.133-5A>G
|
|
|
NM_000089.4(COL1A2):c.1338C>T (p.Leu446=)
|
rs1213032761
|
|
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.1383C>A (p.Pro461=)
|
|
|
NM_000089.4(COL1A2):c.1405-10_1405-9del
|
rs778910090
|
|
NM_000089.4(COL1A2):c.1416C>T (p.Gly472=)
|
|
|
NM_000089.4(COL1A2):c.1425C>T (p.Gly475=)
|
|
|
NM_000089.4(COL1A2):c.1434C>A (p.Gly478=)
|
rs756412829
|
|
NM_000089.4(COL1A2):c.1443C>G (p.Gly481=)
|
rs757839011
|
|
NM_000089.4(COL1A2):c.1446A>T (p.Pro482=)
|
rs412777
|
|
NM_000089.4(COL1A2):c.1503+12_1503+14del
|
rs772246319
|
|
NM_000089.4(COL1A2):c.1503+20T>C
|
|
|
NM_000089.4(COL1A2):c.1503+5_1503+9dup
|
|
|
NM_000089.4(COL1A2):c.1504-18T>G
|
|
|
NM_000089.4(COL1A2):c.150A>G (p.Pro50=)
|
rs369695645
|
|
NM_000089.4(COL1A2):c.1512T>C (p.Pro504=)
|
|
|
NM_000089.4(COL1A2):c.1524T>C (p.Gly508=)
|
|
|
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+8C>T
|
rs1584321985
|
|
NM_000089.4(COL1A2):c.1558-7T>C
|
|
|
NM_000089.4(COL1A2):c.159T>C (p.Asp53=)
|
rs201699348
|
|
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.1644_1645delinsTG (p.Pro549Ala)
|
|
|
NM_000089.4(COL1A2):c.1665+10C>T
|
|
|
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.1689C>G (p.Pro563=)
|
|
|
NM_000089.4(COL1A2):c.1689C>T (p.Pro563=)
|
|
|
NM_000089.4(COL1A2):c.1707A>G (p.Lys569=)
|
|
|
NM_000089.4(COL1A2):c.1710A>T (p.Pro570=)
|
rs373341681
|
|
NM_000089.4(COL1A2):c.1719+18T>C
|
|
|
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.1764+7G>A
|
|
|
NM_000089.4(COL1A2):c.1764+8T>C
|
|
|
NM_000089.4(COL1A2):c.1765-10C>T
|
|
|
NM_000089.4(COL1A2):c.1797T>C (p.Ala599=)
|
|
|
NM_000089.4(COL1A2):c.1800C>T (p.Ala600=)
|
|
|
NM_000089.4(COL1A2):c.180C>A (p.Gly60=)
|
|
|
NM_000089.4(COL1A2):c.180C>T (p.Gly60=)
|
rs756659600
|
|
NM_000089.4(COL1A2):c.1842C>A (p.Pro614=)
|
rs931023370
|
|
NM_000089.4(COL1A2):c.1854T>C (p.Asp618=)
|
|
|
NM_000089.4(COL1A2):c.1863+11A>G
|
|
|
NM_000089.4(COL1A2):c.1863+12T>C
|
|
|
NM_000089.4(COL1A2):c.1864-16A>G
|
|
|
NM_000089.4(COL1A2):c.1864-18A>G
|
|
|
NM_000089.4(COL1A2):c.1902T>C (p.Gly634=)
|
|
|
NM_000089.4(COL1A2):c.1971+10G>C
|
|
|
NM_000089.4(COL1A2):c.2025+13T>C
|
|
|
NM_000089.4(COL1A2):c.2025+7A>G
|
|
|
NM_000089.4(COL1A2):c.2026-19G>C
|
rs546549922
|
|
NM_000089.4(COL1A2):c.2026-20T>C
|
|
|
NM_000089.4(COL1A2):c.2026-5A>G
|
|
|
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.2079+11A>G
|
|
|
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.2082C>A (p.Gly694=)
|
rs193229878
|
|
NM_000089.4(COL1A2):c.2082C>T (p.Gly694=)
|
rs193229878
|
|
NM_000089.4(COL1A2):c.2088T>A (p.Ala696=)
|
|
|
NM_000089.4(COL1A2):c.2097T>C (p.Ala699=)
|
|
|
NM_000089.4(COL1A2):c.210C>G (p.Pro70=)
|
rs1791665131
|
|
NM_000089.4(COL1A2):c.2133+19C>A
|
|
|
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.2145T>G (p.Gly715=)
|
|
|
NM_000089.4(COL1A2):c.2187+13T>G
|
|
|
NM_000089.4(COL1A2):c.2187+15A>G
|
|
|
NM_000089.4(COL1A2):c.2188-11dup
|
|
|
NM_000089.4(COL1A2):c.2188-12T>C
|
|
|
NM_000089.4(COL1A2):c.2188-7C>T
|
|
|
NM_000089.4(COL1A2):c.222T>C (p.Gly74=)
|
|
|
NM_000089.4(COL1A2):c.225+15G>A
|
|
|
NM_000089.4(COL1A2):c.226-16T>C
|
rs542458716
|
|
NM_000089.4(COL1A2):c.226-7T>C
|
rs2115865163
|
|
NM_000089.4(COL1A2):c.2262T>C (p.Gly754=)
|
|
|
NM_000089.4(COL1A2):c.2277T>C (p.Val759=)
|
|
|
NM_000089.4(COL1A2):c.2280A>G (p.Gly760=)
|
|
|
NM_000089.4(COL1A2):c.2295+15C>G
|
rs1359360545
|
|
NM_000089.4(COL1A2):c.2296-9del
|
rs1193169956
|
|
NM_000089.4(COL1A2):c.2301A>T (p.Pro767=)
|
|
|
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.2316T>C (p.Gly772=)
|
|
|
NM_000089.4(COL1A2):c.2350-20C>G
|
|
|
NM_000089.4(COL1A2):c.2385T>G (p.Thr795=)
|
|
|
NM_000089.4(COL1A2):c.2403+14T>C
|
|
|
NM_000089.4(COL1A2):c.2403+20C>T
|
|
|
NM_000089.4(COL1A2):c.2406T>C (p.Gly802=)
|
rs1792198032
|
|
NM_000089.4(COL1A2):c.2472C>T (p.Asp824=)
|
|
|
NM_000089.4(COL1A2):c.2481A>T (p.Pro827=)
|
|
|
NM_000089.4(COL1A2):c.2508A>G (p.Ala836=)
|
rs563505012
|
|
NM_000089.4(COL1A2):c.255A>C (p.Gly85=)
|
|
|
NM_000089.4(COL1A2):c.255A>G (p.Gly85=)
|
rs772309296
|
|
NM_000089.4(COL1A2):c.2565+12C>A
|
|
|
NM_000089.4(COL1A2):c.2565+15A>G
|
|
|
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.2595T>C (p.Gly865=)
|
|
|
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.2673+15G>A
|
|
|
NM_000089.4(COL1A2):c.2673+20C>T
|
rs2115947001
|
|
NM_000089.4(COL1A2):c.2673+7G>T
|
|
|
NM_000089.4(COL1A2):c.2673+9T>C
|
rs2115946928
|
|
NM_000089.4(COL1A2):c.2674-6G>C
|
rs771442891
|
|
NM_000089.4(COL1A2):c.2727T>A (p.Pro909=)
|
rs2115949635
|
|
NM_000089.4(COL1A2):c.2739T>G (p.Gly913=)
|
|
|
NM_000089.4(COL1A2):c.2775T>A (p.Gly925=)
|
|
|
NM_000089.4(COL1A2):c.2782-11T>C
|
|
|
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.279+7T>A
|
|
|
NM_000089.4(COL1A2):c.280-16T>C
|
|
|
NM_000089.4(COL1A2):c.280-17A>C
|
|
|
NM_000089.4(COL1A2):c.2832C>T (p.His944=)
|
|
|
NM_000089.4(COL1A2):c.2836-20del
|
|
|
NM_000089.4(COL1A2):c.2841G>A (p.Glu947=)
|
rs1562907108
|
|
NM_000089.4(COL1A2):c.2844C>T (p.Arg948=)
|
rs772555004
|
|
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.2913T>C (p.Pro971=)
|
rs2115952533
|
|
NM_000089.4(COL1A2):c.2937T>C (p.Gly979=)
|
rs1584329988
|
|
NM_000089.4(COL1A2):c.2943+10T>C
|
|
|
NM_000089.4(COL1A2):c.2944-14T>G
|
|
|
NM_000089.4(COL1A2):c.2944-16C>T
|
rs373903050
|
|
NM_000089.4(COL1A2):c.2961T>G (p.Val987=)
|
rs1584330108
|
|
NM_000089.4(COL1A2):c.2964T>C (p.Gly988=)
|
|
|
NM_000089.4(COL1A2):c.2985A>G (p.Pro995=)
|
|
|
NM_000089.4(COL1A2):c.2997+11G>C
|
|
|
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.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.3036T>G (p.Gly1012=)
|
|
|
NM_000089.4(COL1A2):c.306T>C (p.Pro102=)
|
|
|
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.3159+15G>A
|
|
|
NM_000089.4(COL1A2):c.3159+8G>A
|
|
|
NM_000089.4(COL1A2):c.3160-19T>C
|
|
|
NM_000089.4(COL1A2):c.3177T>C (p.Ser1059=)
|
|
|
NM_000089.4(COL1A2):c.3207A>G (p.Gly1069=)
|
rs2115957872
|
|
NM_000089.4(COL1A2):c.3225A>G (p.Gly1075=)
|
rs756009155
|
|
NM_000089.4(COL1A2):c.3228T>C (p.Pro1076=)
|
|
|
NM_000089.4(COL1A2):c.3234C>T (p.Gly1078=)
|
|
|
NM_000089.4(COL1A2):c.324+14G>A
|
|
|
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.3268-19C>T
|
|
|
NM_000089.4(COL1A2):c.3270C>T (p.Gly1090=)
|
|
|
NM_000089.4(COL1A2):c.3312C>T (p.Ser1104=)
|
|
|
NM_000089.4(COL1A2):c.3435G>A (p.Gln1145=)
|
rs193922169
|
|
NM_000089.4(COL1A2):c.3444C>T (p.Thr1148=)
|
|
|
NM_000089.4(COL1A2):c.3453T>G (p.Thr1151=)
|
|
|
NM_000089.4(COL1A2):c.348T>C (p.Pro116=)
|
|
|
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.3527-4A>T
|
rs888826541
|
|
NM_000089.4(COL1A2):c.3573C>A (p.Ile1191=)
|
|
|
NM_000089.4(COL1A2):c.3612C>T (p.Ile1204=)
|
|
|
NM_000089.4(COL1A2):c.3621A>G (p.Gln1207=)
|
rs2115962565
|
|
NM_000089.4(COL1A2):c.3673C>T (p.His1225Tyr)
|
rs535142482
|
|
NM_000089.4(COL1A2):c.3678C>T (p.Val1226=)
|
|
|
NM_000089.4(COL1A2):c.36G>C (p.Leu12=)
|
rs1584310252
|
|
NM_000089.4(COL1A2):c.3711+10C>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.3740C>A (p.Ser1247Tyr)
|
rs763721360
|
|
NM_000089.4(COL1A2):c.3762T>C (p.Leu1254=)
|
rs1584332680
|
|
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.3856C>T (p.Leu1286=)
|
rs1584332859
|
|
NM_000089.4(COL1A2):c.3858G>A (p.Leu1286=)
|
|
|
NM_000089.4(COL1A2):c.3885T>C (p.Ser1295=)
|
|
|
NM_000089.4(COL1A2):c.3897A>G (p.Glu1299=)
|
rs1562908882
|
|
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.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.402A>C (p.Pro134=)
|
|
|
NM_000089.4(COL1A2):c.4047C>T (p.Ile1349=)
|
rs144133431
|
|
NM_000089.4(COL1A2):c.4098A>G (p.Lys1366=)
|
|
|
NM_000089.4(COL1A2):c.432+11A>T
|
|
|
NM_000089.4(COL1A2):c.432+16T>A
|
|
|
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.433-6G>A
|
|
|
NM_000089.4(COL1A2):c.456A>G (p.Arg152=)
|
|
|
NM_000089.4(COL1A2):c.487-11T>C
|
|
|
NM_000089.4(COL1A2):c.487-9_487-7del
|
|
|
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.555G>A (p.Leu185=)
|
|
|
NM_000089.4(COL1A2):c.576C>G (p.Pro192=)
|
rs140656978
|
|
NM_000089.4(COL1A2):c.576C>T (p.Pro192=)
|
|
|
NM_000089.4(COL1A2):c.594+11A>T
|
|
|
NM_000089.4(COL1A2):c.595-14C>T
|
|
|
NM_000089.4(COL1A2):c.595-5T>C
|
|
|
NM_000089.4(COL1A2):c.597T>C (p.Gly199=)
|
|
|
NM_000089.4(COL1A2):c.612T>G (p.Pro204=)
|
rs2115886810
|
|
NM_000089.4(COL1A2):c.621T>C (p.Asn207=)
|
|
|
NM_000089.4(COL1A2):c.681C>G (p.Ala227=)
|
rs1791843396
|
|
NM_000089.4(COL1A2):c.694-10T>G
|
|
|
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.71-10_71-9insC
|
|
|
NM_000089.4(COL1A2):c.71-11T>C
|
|
|
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.741T>C (p.Gly247=)
|
rs1584318604
|
|
NM_000089.4(COL1A2):c.793-20G>C
|
rs770146997
|
|
NM_000089.4(COL1A2):c.793-8T>A
|
|
|
NM_000089.4(COL1A2):c.795T>A (p.Gly265=)
|
|
|
NM_000089.4(COL1A2):c.81+10A>C
|
rs750283092
|
|
NM_000089.4(COL1A2):c.81+12T>A
|
|
|
NM_000089.4(COL1A2):c.82-17G>C
|
|
|
NM_000089.4(COL1A2):c.822T>C (p.Gly274=)
|
|
|
NM_000089.4(COL1A2):c.837C>T (p.Ala279=)
|
|
|
NM_000089.4(COL1A2):c.855G>A (p.Val285=)
|
|
|
NM_000089.4(COL1A2):c.880G>T (p.Val294Phe)
|
rs145693444
|
|
NM_000089.4(COL1A2):c.885A>G (p.Gly295=)
|
|
|
NM_000089.4(COL1A2):c.888T>G (p.Pro296=)
|
rs1554396039
|
|
NM_000089.4(COL1A2):c.891+11A>G
|
|
|
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.900T>C (p.Pro300=)
|
|
|
NM_000089.4(COL1A2):c.90A>G (p.Val30=)
|
rs766090050
|
|
NM_000089.4(COL1A2):c.921T>C (p.Gly307=)
|
rs2115893209
|
|
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.96+15C>T
|
|
|
NM_000089.4(COL1A2):c.96+20C>A
|
|
|
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.978C>G (p.Pro326=)
|
|
|