ClinVar Miner

List of variants in gene COL1A2 studied for Ehlers-Danlos syndrome, classic type

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1378
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HGVS dbSNP gnomAD frequency
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.2403+7A>G rs751913918 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.1976A>G (p.Glu659Gly) rs766488808 0.00002
NM_000089.4(COL1A2):c.2024G>A (p.Arg675His) rs754443174 0.00002
NM_000089.4(COL1A2):c.2330G>A (p.Arg777His) rs746187799 0.00002
NM_000089.4(COL1A2):c.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.(?_94027674)_(94027728_?)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.1289G>A (p.Gly430Glu) rs1791913210
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+1G>T rs72658140
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.1820G>C (p.Gly607Ala) rs1792043985
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.2035G>A (p.Gly679Ser) rs1584325552
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.2148_2156delinsACGTGG (p.Val717_Pro719delinsArgGly) rs1584326175
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>A (p.Gly739Arg) rs72658174
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.2674-3T>G rs72659303
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.2810G>A (p.Gly937Asp) rs1584329740
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.3286G>A (p.Gly1096Ser) rs1792308325
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.433-2A>G 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.776G>T (p.Gly259Val) 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.809_820del (p.Val270_Ala273del) rs1584318956
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.857_875del (p.Gly286fs) rs1584319045
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)

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