ClinVar Miner

List of variants in gene COL1A2 reported as likely benign for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 524
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HGVS dbSNP gnomAD frequency
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=)

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