ClinVar Miner

List of variants reported as likely benign for Osteogenesis imperfecta type I

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 738
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys) rs138544681 0.00069
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000088.4(COL1A1):c.3571C>G (p.Pro1191Ala) rs142570406 0.00059
NM_000088.4(COL1A1):c.1461+7G>A rs374268357 0.00054
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=) rs148737409 0.00054
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=) rs147743501 0.00044
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000088.4(COL1A1):c.2716G>A (p.Gly906Ser) rs145446512 0.00041
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu) rs199626372 0.00038
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214 0.00031
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.3849C>A (p.Asn1283Lys) rs199911681 0.00023
NM_000088.4(COL1A1):c.1638C>T (p.Ser546=) rs146450504 0.00022
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 0.00019
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000088.4(COL1A1):c.3100-6C>T rs377123276 0.00019
NM_000088.4(COL1A1):c.2236-9T>C rs375248255 0.00018
NM_000088.4(COL1A1):c.3815-12G>T rs201066018 0.00017
NM_000088.4(COL1A1):c.1206T>G (p.Ala402=) rs141411256 0.00014
NM_000088.4(COL1A1):c.1347A>G (p.Gly449=) rs757237837 0.00014
NM_000088.4(COL1A1):c.2944C>A (p.Pro982Thr) rs141117382 0.00014
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707 0.00014
NM_000088.4(COL1A1):c.3255C>T (p.Gly1085=) rs369670483 0.00014
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=) rs776387246 0.00013
NM_000088.4(COL1A1):c.1354-13C>T rs372034810 0.00013
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000088.4(COL1A1):c.2127+12G>A rs778814970 0.00013
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_000088.4(COL1A1):c.1156-18C>T rs1227183168 0.00012
NM_000088.4(COL1A1):c.2973T>C (p.Ser991=) rs568904847 0.00012
NM_000088.4(COL1A1):c.4030G>A (p.Asp1344Asn) rs371547661 0.00012
NM_000088.4(COL1A1):c.144T>A (p.His48Gln) rs374065372 0.00011
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
NM_000088.4(COL1A1):c.1300-9C>T rs780311548 0.00010
NM_000088.4(COL1A1):c.2532C>T (p.Ala844=) rs374158703 0.00010
NM_000088.4(COL1A1):c.3465C>T (p.Leu1155=) rs368746726 0.00010
NM_000088.4(COL1A1):c.391C>A (p.Arg131=) rs776611767 0.00010
NM_000088.4(COL1A1):c.1200+15A>G rs371312641 0.00009
NM_000088.4(COL1A1):c.2069C>T (p.Pro690Leu) rs760258050 0.00009
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799 0.00009
NM_000088.4(COL1A1):c.471+14C>G rs774281966 0.00009
NM_000088.4(COL1A1):c.588+15C>T rs371817394 0.00009
NM_000088.4(COL1A1):c.858+18C>T rs368700070 0.00009
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) rs369699409 0.00008
NM_000088.4(COL1A1):c.3124G>A (p.Ala1042Thr) rs746939680 0.00008
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000088.4(COL1A1):c.1405C>A (p.Arg469=) rs762428889 0.00007
NM_000088.4(COL1A1):c.2539G>A (p.Ala847Thr) rs369455732 0.00007
NM_000088.4(COL1A1):c.543+10C>T rs376260945 0.00007
NM_000088.4(COL1A1):c.768C>T (p.Pro256=) rs199891984 0.00007
NM_000088.4(COL1A1):c.993C>T (p.Ala331=) rs147277057 0.00007
NM_000088.4(COL1A1):c.1155+12C>T rs774034198 0.00006
NM_000088.4(COL1A1):c.1515+17G>A rs778395663 0.00006
NM_000088.4(COL1A1):c.1674C>T (p.Pro558=) rs578167693 0.00006
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) rs375695940 0.00006
NM_000088.4(COL1A1):c.1983+16C>T rs536312322 0.00006
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=) rs200188855 0.00006
NM_000088.4(COL1A1):c.2288G>A (p.Arg763His) rs144820445 0.00006
NM_000088.4(COL1A1):c.2405G>A (p.Arg802His) rs556916354 0.00006
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=) rs200620805 0.00006
NM_000088.4(COL1A1):c.2998A>G (p.Met1000Val) rs777265470 0.00006
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000088.4(COL1A1):c.4017C>T (p.Gly1339=) rs201256042 0.00006
NM_000088.4(COL1A1):c.4224C>T (p.Tyr1408=) rs369138260 0.00006
NM_000088.4(COL1A1):c.528C>T (p.Ser176=) rs748856187 0.00006
NM_000088.4(COL1A1):c.589-20T>C rs370564344 0.00006
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu) rs763409550 0.00006
NM_000088.4(COL1A1):c.1236T>C (p.Pro412=) rs560859897 0.00005
NM_000088.4(COL1A1):c.1641T>G (p.Pro547=) rs775965149 0.00005
NM_000088.4(COL1A1):c.2028+18G>A rs745829877 0.00005
NM_000088.4(COL1A1):c.2154C>T (p.Pro718=) rs550291465 0.00005
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala) rs772929903 0.00005
NM_000088.4(COL1A1):c.3754C>T (p.Arg1252Cys) rs781614679 0.00005
NM_000088.4(COL1A1):c.4249-7A>C rs201450194 0.00005
NM_000088.4(COL1A1):c.690A>G (p.Gly230=) rs776786081 0.00005
NM_000088.4(COL1A1):c.125A>G (p.Gln42Arg) rs367643097 0.00004
NM_000088.4(COL1A1):c.1270G>A (p.Gly424Ser) rs750427423 0.00004
NM_000088.4(COL1A1):c.1515+16G>A rs745582193 0.00004
NM_000088.4(COL1A1):c.1515+20G>A rs373728987 0.00004
NM_000088.4(COL1A1):c.1785T>A (p.Ala595=) rs780217716 0.00004
NM_000088.4(COL1A1):c.1930-5T>C rs762377921 0.00004
NM_000088.4(COL1A1):c.2090G>A (p.Arg697Gln) rs202221716 0.00004
NM_000088.4(COL1A1):c.2355T>A (p.Gly785=) rs137937544 0.00004
NM_000088.4(COL1A1):c.2559+17T>G rs543348331 0.00004
NM_000088.4(COL1A1):c.2601C>T (p.Ser867=) rs747037929 0.00004
NM_000088.4(COL1A1):c.298+16G>A rs372943378 0.00004
NM_000088.4(COL1A1):c.299-9G>T rs373041336 0.00004
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr) rs372029024 0.00004
NM_000088.4(COL1A1):c.3588C>T (p.Phe1196=) rs748086214 0.00004
NM_000088.4(COL1A1):c.3630C>T (p.His1210=) rs745320719 0.00004
NM_000088.4(COL1A1):c.3846C>T (p.Cys1282=) rs772750234 0.00004
NM_000088.4(COL1A1):c.3944G>T (p.Ser1315Ile) rs1391247648 0.00004
NM_000088.4(COL1A1):c.3979G>A (p.Gly1327Ser) rs147104425 0.00004
NM_000088.4(COL1A1):c.4038C>T (p.Ala1346=) rs768810493 0.00004
NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe) rs768808806 0.00004
NM_000088.4(COL1A1):c.4228G>A (p.Val1410Ile) rs769619568 0.00004
NM_000088.4(COL1A1):c.428C>G (p.Pro143Arg) rs941273260 0.00004
NM_000088.4(COL1A1):c.45C>T (p.Ala15=) rs140295356 0.00004
NM_000088.4(COL1A1):c.504T>G (p.Asp168Glu) rs368246367 0.00004
NM_000088.4(COL1A1):c.544-4A>G rs369898579 0.00004
NM_000088.4(COL1A1):c.1018G>A (p.Ala340Thr) rs773343407 0.00003
NM_000088.4(COL1A1):c.1056+7C>A rs1055536504 0.00003
NM_000088.4(COL1A1):c.1491C>T (p.Gly497=) rs773286290 0.00003
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His) rs780422688 0.00003
NM_000088.4(COL1A1):c.1776C>T (p.Pro592=) rs777014529 0.00003
NM_000088.4(COL1A1):c.2452-19G>A rs762402176 0.00003
NM_000088.4(COL1A1):c.2910A>G (p.Arg970=) rs763850566 0.00003
NM_000088.4(COL1A1):c.2937+8C>T rs1266313465 0.00003
NM_000088.4(COL1A1):c.3022C>T (p.Pro1008Ser) rs1199013401 0.00003
NM_000088.4(COL1A1):c.3093C>T (p.Gly1031=) rs753135498 0.00003
NM_000088.4(COL1A1):c.3237C>A (p.Gly1079=) rs374853330 0.00003
NM_000088.4(COL1A1):c.3251G>A (p.Arg1084His) rs746341018 0.00003
NM_000088.4(COL1A1):c.3258C>T (p.Pro1086=) rs200319927 0.00003
NM_000088.4(COL1A1):c.325G>C (p.Gly109Arg) rs762315953 0.00003
NM_000088.4(COL1A1):c.3532-13C>T rs369694934 0.00003
NM_000088.4(COL1A1):c.36C>T (p.Leu12=) rs748155900 0.00003
NM_000088.4(COL1A1):c.370-9C>T rs773193800 0.00003
NM_000088.4(COL1A1):c.3769C>T (p.Arg1257Cys) rs368295399 0.00003
NM_000088.4(COL1A1):c.3814+19C>T rs780452624 0.00003
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=) rs756297543 0.00003
NM_000088.4(COL1A1):c.4080C>T (p.Thr1360=) rs753536372 0.00003
NM_000088.4(COL1A1):c.4182C>T (p.Asn1394=) rs755763693 0.00003
NM_000088.4(COL1A1):c.4369G>A (p.Asp1457Asn) rs761895918 0.00003
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=) rs543735501 0.00002
NM_000088.4(COL1A1):c.1395G>A (p.Glu465=) rs1308484700 0.00002
NM_000088.4(COL1A1):c.1557C>T (p.Pro519=) rs753993330 0.00002
NM_000088.4(COL1A1):c.1675G>A (p.Ala559Thr) rs558173513 0.00002
NM_000088.4(COL1A1):c.1694C>T (p.Pro565Leu) rs764989002 0.00002
NM_000088.4(COL1A1):c.1861C>A (p.Pro621Thr) rs764186905 0.00002
NM_000088.4(COL1A1):c.1881C>T (p.Pro627=) rs550265501 0.00002
NM_000088.4(COL1A1):c.2128-16C>G rs763565986 0.00002
NM_000088.4(COL1A1):c.2276A>C (p.Lys759Thr) rs370916785 0.00002
NM_000088.4(COL1A1):c.2301C>T (p.Gly767=) rs773279512 0.00002
NM_000088.4(COL1A1):c.2452-20C>T rs1165467743 0.00002
NM_000088.4(COL1A1):c.2608C>G (p.Pro870Ala) rs771918127 0.00002
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser) rs756337302 0.00002
NM_000088.4(COL1A1):c.2938-7C>T rs757272365 0.00002
NM_000088.4(COL1A1):c.3222C>T (p.Pro1074=) rs764134427 0.00002
NM_000088.4(COL1A1):c.323C>T (p.Thr108Ile) rs765837515 0.00002
NM_000088.4(COL1A1):c.3262-9C>G rs777883502 0.00002
NM_000088.4(COL1A1):c.336A>T (p.Gly112=) rs749946056 0.00002
NM_000088.4(COL1A1):c.3468C>T (p.Asn1156=) rs149980662 0.00002
NM_000088.4(COL1A1):c.3532-12C>T rs200458986 0.00002
NM_000088.4(COL1A1):c.3595A>G (p.Ser1199Gly) rs776355079 0.00002
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His) rs543809032 0.00002
NM_000088.4(COL1A1):c.3687C>T (p.Leu1229=) rs765353412 0.00002
NM_000088.4(COL1A1):c.3814+11G>A rs769202328 0.00002
NM_000088.4(COL1A1):c.4041T>C (p.Asp1347=) rs745797859 0.00002
NM_000088.4(COL1A1):c.4188C>T (p.Ile1396=) rs780908692 0.00002
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=) rs757759451 0.00002
NM_000088.4(COL1A1):c.427C>T (p.Pro143Ser) rs570526849 0.00002
NM_000088.4(COL1A1):c.4302C>T (p.Thr1434=) rs1467776318 0.00002
NM_000088.4(COL1A1):c.4325T>C (p.Val1442Ala) rs1321766630 0.00002
NM_000088.4(COL1A1):c.549C>T (p.Pro183=) rs1250249821 0.00002
NM_000088.4(COL1A1):c.642+8C>T rs1003565350 0.00002
NM_000088.4(COL1A1):c.918G>T (p.Leu306=) rs769021257 0.00002
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe) rs72645362 0.00001
NM_000088.4(COL1A1):c.1072C>G (p.Gln358Glu) rs749024135 0.00001
NM_000088.4(COL1A1):c.1087T>C (p.Ser363Pro) rs1207868159 0.00001
NM_000088.4(COL1A1):c.1149C>T (p.Gly383=) rs1291096544 0.00001
NM_000088.4(COL1A1):c.1161C>A (p.Asn387Lys) rs899337697 0.00001
NM_000088.4(COL1A1):c.1200+10C>T rs1490273189 0.00001
NM_000088.4(COL1A1):c.1200+9C>G rs767579512 0.00001
NM_000088.4(COL1A1):c.1201-12T>C rs1475476779 0.00001
NM_000088.4(COL1A1):c.1207C>G (p.Pro403Ala) rs762809403 0.00001
NM_000088.4(COL1A1):c.1209T>C (p.Pro403=) rs200786825 0.00001
NM_000088.4(COL1A1):c.1380T>A (p.Pro460=) rs1237735571 0.00001
NM_000088.4(COL1A1):c.1404G>A (p.Lys468=) rs1240489656 0.00001
NM_000088.4(COL1A1):c.1429C>G (p.Pro477Ala) rs1268011878 0.00001
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) rs1051473344 0.00001
NM_000088.4(COL1A1):c.1516-7C>T rs748830899 0.00001
NM_000088.4(COL1A1):c.1522G>A (p.Ala508Thr) rs752150906 0.00001
NM_000088.4(COL1A1):c.156G>A (p.Val52=) rs1369140907 0.00001
NM_000088.4(COL1A1):c.1614+18C>T rs923054762 0.00001
NM_000088.4(COL1A1):c.1621A>G (p.Thr541Ala) rs766204229 0.00001
NM_000088.4(COL1A1):c.1644T>A (p.Gly548=) rs1312778967 0.00001
NM_000088.4(COL1A1):c.1669-17G>A rs367662814 0.00001
NM_000088.4(COL1A1):c.1677C>T (p.Ala559=) rs755073295 0.00001
NM_000088.4(COL1A1):c.1689T>C (p.Gly563=) rs1555573640 0.00001
NM_000088.4(COL1A1):c.1764T>C (p.Ala588=) rs1800212 0.00001
NM_000088.4(COL1A1):c.1845G>T (p.Glu615Asp) rs769791947 0.00001
NM_000088.4(COL1A1):c.1875+3G>T rs138164489 0.00001
NM_000088.4(COL1A1):c.1920C>T (p.Pro640=) rs745564892 0.00001
NM_000088.4(COL1A1):c.1929+17G>C rs1291997527 0.00001
NM_000088.4(COL1A1):c.2024C>A (p.Ala675Glu) rs1308244294 0.00001
NM_000088.4(COL1A1):c.2054G>A (p.Arg685His) rs573132397 0.00001
NM_000088.4(COL1A1):c.2072C>T (p.Pro691Leu) rs775055638 0.00001
NM_000088.4(COL1A1):c.2100C>T (p.Asn700=) rs201122145 0.00001
NM_000088.4(COL1A1):c.2112C>A (p.Gly704=) rs768785416 0.00001
NM_000088.4(COL1A1):c.2216C>T (p.Pro739Leu) rs755786796 0.00001
NM_000088.4(COL1A1):c.2343+18C>T rs1050837911 0.00001
NM_000088.4(COL1A1):c.2344-11C>T rs1352672171 0.00001
NM_000088.4(COL1A1):c.2398-14T>A rs757350752 0.00001
NM_000088.4(COL1A1):c.2445C>T (p.Gly815=) rs762075856 0.00001
NM_000088.4(COL1A1):c.247G>A (p.Gly83Ser) rs763855013 0.00001
NM_000088.4(COL1A1):c.2481C>T (p.Gly827=) rs779002822 0.00001
NM_000088.4(COL1A1):c.2519C>T (p.Pro840Leu) rs748149807 0.00001
NM_000088.4(COL1A1):c.2538C>T (p.Pro846=) rs758123056 0.00001
NM_000088.4(COL1A1):c.2562T>C (p.Gly854=) rs763214118 0.00001
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520 0.00001
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=) rs779337831 0.00001
NM_000088.4(COL1A1):c.2829+20T>C rs372169804 0.00001
NM_000088.4(COL1A1):c.2883C>T (p.Val961=) rs761548060 0.00001
NM_000088.4(COL1A1):c.3013T>C (p.Leu1005=) rs772060459 0.00001
NM_000088.4(COL1A1):c.3045+11C>T rs201349683 0.00001
NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=) rs751239116 0.00001
NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr) rs374095521 0.00001
NM_000088.4(COL1A1):c.3100-14G>C rs370574815 0.00001
NM_000088.4(COL1A1):c.3100-5G>A rs751822769 0.00001
NM_000088.4(COL1A1):c.3168C>T (p.Pro1056=) rs913216741 0.00001
NM_000088.4(COL1A1):c.3246C>T (p.Gly1082=) rs772906802 0.00001
NM_000088.4(COL1A1):c.324C>T (p.Thr108=) rs1193008069 0.00001
NM_000088.4(COL1A1):c.3261+10C>G rs752779091 0.00001
NM_000088.4(COL1A1):c.326G>A (p.Gly109Asp) rs372159426 0.00001
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=) rs372044347 0.00001
NM_000088.4(COL1A1):c.334-4A>G rs200621584 0.00001
NM_000088.4(COL1A1):c.33C>T (p.Leu11=) rs1024499126 0.00001
NM_000088.4(COL1A1):c.3441T>C (p.Ala1147=) rs768896689 0.00001
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=) rs370529603 0.00001
NM_000088.4(COL1A1):c.351T>C (p.Thr117=) rs576449536 0.00001
NM_000088.4(COL1A1):c.3532-6G>A rs373386837 0.00001
NM_000088.4(COL1A1):c.3546T>C (p.Pro1182=) rs1403898020 0.00001
NM_000088.4(COL1A1):c.3552A>T (p.Gly1184=) rs774547182 0.00001
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala) rs766461654 0.00001
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys) rs746671446 0.00001
NM_000088.4(COL1A1):c.3641G>A (p.Arg1214His) rs137987935 0.00001
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372 0.00001
NM_000088.4(COL1A1):c.3815-10C>T rs770568983 0.00001
NM_000088.4(COL1A1):c.3906C>T (p.Pro1302=) rs188887858 0.00001
NM_000088.4(COL1A1):c.3945C>T (p.Ser1315=) rs766059440 0.00001
NM_000088.4(COL1A1):c.3982G>A (p.Glu1328Lys) rs142128554 0.00001
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) rs754984293 0.00001
NM_000088.4(COL1A1):c.4008C>T (p.Phe1336=) rs763676384 0.00001
NM_000088.4(COL1A1):c.4120G>A (p.Val1374Met) rs954167907 0.00001
NM_000088.4(COL1A1):c.4176C>T (p.Gly1392=) rs745816283 0.00001
NM_000088.4(COL1A1):c.4200C>T (p.Ala1400=) rs764510425 0.00001
NM_000088.4(COL1A1):c.4227C>T (p.Ser1409=) rs552087944 0.00001
NM_000088.4(COL1A1):c.4249-13C>T rs1046359912 0.00001
NM_000088.4(COL1A1):c.4320C>T (p.Ile1440=) rs770326881 0.00001
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133 0.00001
NM_000088.4(COL1A1):c.4368C>T (p.Phe1456=) rs765224053 0.00001
NM_000088.4(COL1A1):c.441C>T (p.Pro147=) rs1156978524 0.00001
NM_000088.4(COL1A1):c.465C>T (p.Leu155=) rs1229801664 0.00001
NM_000088.4(COL1A1):c.472-4C>A rs753888456 0.00001
NM_000088.4(COL1A1):c.481C>T (p.Pro161Ser) rs764071315 0.00001
NM_000088.4(COL1A1):c.483C>G (p.Pro161=) rs1304069206 0.00001
NM_000088.4(COL1A1):c.543+9G>A rs111549032 0.00001
NM_000088.4(COL1A1):c.61C>T (p.His21Tyr) rs777150332 0.00001
NM_000088.4(COL1A1):c.63C>T (p.His21=) rs536939800 0.00001
NM_000088.4(COL1A1):c.663T>C (p.Gly221=) rs770083936 0.00001
NM_000088.4(COL1A1):c.765G>A (p.Leu255=) rs373529600 0.00001
NM_000088.4(COL1A1):c.790A>T (p.Met264Leu) rs374947065 0.00001
NM_000088.4(COL1A1):c.804+18C>T rs754603674 0.00001
NM_000088.4(COL1A1):c.805-10C>T rs746606358 0.00001
NM_000088.4(COL1A1):c.835G>A (p.Asp279Asn) rs745367793 0.00001
NM_000088.4(COL1A1):c.859-5T>C rs771596805 0.00001
NM_000088.4(COL1A1):c.945C>T (p.Ala315=) rs780242725 0.00001
NM_000088.4(COL1A1):c.958-9C>T rs1270507282 0.00001
NM_000088.4(COL1A1):c.979G>T (p.Ala327Ser) rs769106952 0.00001
NM_000088.4(COL1A1):c.1002+15T>C rs1171552644
NM_000088.4(COL1A1):c.1002+20C>T
NM_000088.4(COL1A1):c.1003-8A>G rs2144579048
NM_000088.4(COL1A1):c.1011C>G (p.Thr337=)
NM_000088.4(COL1A1):c.1011C>T (p.Thr337=) rs774708577
NM_000088.4(COL1A1):c.1025C>T (p.Pro342Leu)
NM_000088.4(COL1A1):c.103+13C>G rs775514708
NM_000088.4(COL1A1):c.103+7C>T rs2144600046
NM_000088.4(COL1A1):c.1032C>T (p.Gly344=)
NM_000088.4(COL1A1):c.1035C>T (p.Phe345=)
NM_000088.4(COL1A1):c.1037C>T (p.Pro346Leu) rs372658559
NM_000088.4(COL1A1):c.104-11G>T
NM_000088.4(COL1A1):c.104-19C>T rs1445327445
NM_000088.4(COL1A1):c.104-6T>C rs2144594883
NM_000088.4(COL1A1):c.104-8dup
NM_000088.4(COL1A1):c.1053T>C (p.Ala351=) rs1473998316
NM_000088.4(COL1A1):c.1056+18C>T rs1357296523
NM_000088.4(COL1A1):c.1056+8C>G
NM_000088.4(COL1A1):c.1057-19G>A
NM_000088.4(COL1A1):c.1057-20T>G
NM_000088.4(COL1A1):c.1077G>A (p.Gly359=) rs1419690614
NM_000088.4(COL1A1):c.1077G>T (p.Gly359=)
NM_000088.4(COL1A1):c.108A>G (p.Pro36=) rs2144594842
NM_000088.4(COL1A1):c.1107G>A (p.Val369=)
NM_000088.4(COL1A1):c.1155+11C>A
NM_000088.4(COL1A1):c.1155+12del
NM_000088.4(COL1A1):c.1155+13G>A
NM_000088.4(COL1A1):c.1155+18A>G
NM_000088.4(COL1A1):c.1155+18_1155+19insT
NM_000088.4(COL1A1):c.1155+9C>A rs370459791
NM_000088.4(COL1A1):c.1156-4A>G
NM_000088.4(COL1A1):c.1156-4A>T
NM_000088.4(COL1A1):c.1203T>C (p.Gly401=)
NM_000088.4(COL1A1):c.1206T>C (p.Ala402=)
NM_000088.4(COL1A1):c.1248C>A (p.Gly416=) rs778415109
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.1251C>T (p.Pro417=)
NM_000088.4(COL1A1):c.1259C>G (p.Pro420Arg)
NM_000088.4(COL1A1):c.1268C>T (p.Pro423Leu)
NM_000088.4(COL1A1):c.126G>C (p.Gln42His) rs1555575436
NM_000088.4(COL1A1):c.1287C>T (p.Pro429=)
NM_000088.4(COL1A1):c.1293T>C (p.Gly431=) rs1907475173
NM_000088.4(COL1A1):c.1299+13C>T
NM_000088.4(COL1A1):c.1299+20T>A
NM_000088.4(COL1A1):c.1300-8C>A rs41317361
NM_000088.4(COL1A1):c.1300-9C>A
NM_000088.4(COL1A1):c.1353+12C>T
NM_000088.4(COL1A1):c.1353+13G>A
NM_000088.4(COL1A1):c.1353+16A>G
NM_000088.4(COL1A1):c.1353+19C>T
NM_000088.4(COL1A1):c.1354-15C>T
NM_000088.4(COL1A1):c.1354-4C>G
NM_000088.4(COL1A1):c.1354-8del rs765450816
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.4(COL1A1):c.1375C>T (p.Pro459Ser)
NM_000088.4(COL1A1):c.1443C>G (p.Pro481=) rs770169695
NM_000088.4(COL1A1):c.1443C>T (p.Pro481=) rs770169695
NM_000088.4(COL1A1):c.1448C>A (p.Pro483His)
NM_000088.4(COL1A1):c.1450C>T (p.Pro484Ser)
NM_000088.4(COL1A1):c.1455C>T (p.Gly485=)
NM_000088.4(COL1A1):c.1462-14C>A
NM_000088.4(COL1A1):c.1462-19G>A
NM_000088.4(COL1A1):c.148C>A (p.Arg50=) rs1555575425
NM_000088.4(COL1A1):c.1497T>C (p.Asp499=)
NM_000088.4(COL1A1):c.1515+10C>G rs2144571923
NM_000088.4(COL1A1):c.1515+15C>T rs758006385
NM_000088.4(COL1A1):c.1515+19dup
NM_000088.4(COL1A1):c.1515+20G>T
NM_000088.4(COL1A1):c.1516-11C>A
NM_000088.4(COL1A1):c.1516-14C>T rs1437177152
NM_000088.4(COL1A1):c.1516-6A>C
NM_000088.4(COL1A1):c.1516-9C>T rs369076517
NM_000088.4(COL1A1):c.1520C>T (p.Pro507Leu)
NM_000088.4(COL1A1):c.1533T>G (p.Arg511=) rs899423835
NM_000088.4(COL1A1):c.1545C>T (p.Gly515=)
NM_000088.4(COL1A1):c.1546C>T (p.Pro516Ser)
NM_000088.4(COL1A1):c.1551T>C (p.Ala517=)
NM_000088.4(COL1A1):c.1554C>G (p.Gly518=)
NM_000088.4(COL1A1):c.1615-16C>T rs2144570402
NM_000088.4(COL1A1):c.1620G>C (p.Leu540=)
NM_000088.4(COL1A1):c.1629C>T (p.Ser543=)
NM_000088.4(COL1A1):c.1653C>G (p.Gly551=)
NM_000088.4(COL1A1):c.1662C>T (p.Gly554=)
NM_000088.4(COL1A1):c.1668+13C>G rs1907346296
NM_000088.4(COL1A1):c.1668+18del
NM_000088.4(COL1A1):c.1668+9C>A
NM_000088.4(COL1A1):c.1669-12T>C
NM_000088.4(COL1A1):c.1669-8A>G
NM_000088.4(COL1A1):c.168G>A (p.Glu56=) rs371006337
NM_000088.4(COL1A1):c.1690C>T (p.Arg564Cys)
NM_000088.4(COL1A1):c.1693C>A (p.Pro565Thr) rs750241688
NM_000088.4(COL1A1):c.169C>G (p.Pro57Ala)
NM_000088.4(COL1A1):c.1767+19T>A
NM_000088.4(COL1A1):c.1768-12C>G
NM_000088.4(COL1A1):c.1768-20C>G rs1907245660
NM_000088.4(COL1A1):c.1768-6C>T
NM_000088.4(COL1A1):c.1768-9T>C rs2144565853
NM_000088.4(COL1A1):c.1809C>T (p.Pro603=)
NM_000088.4(COL1A1):c.1815C>A (p.Gly605=) rs370384784
NM_000088.4(COL1A1):c.1815C>T (p.Gly605=) rs370384784
NM_000088.4(COL1A1):c.1816G>A (p.Ala606Thr)
NM_000088.4(COL1A1):c.1821+11C>T
NM_000088.4(COL1A1):c.1822-6C>A
NM_000088.4(COL1A1):c.1828G>A (p.Ala610Thr) rs1016862662
NM_000088.4(COL1A1):c.1833C>T (p.Gly611=)
NM_000088.4(COL1A1):c.1836A>T (p.Lys612Asn)
NM_000088.4(COL1A1):c.1846G>A (p.Ala616Thr)
NM_000088.4(COL1A1):c.1851A>G (p.Gly617=)
NM_000088.4(COL1A1):c.1875+15T>C
NM_000088.4(COL1A1):c.1875+8T>A rs756572885
NM_000088.4(COL1A1):c.1876-19T>C
NM_000088.4(COL1A1):c.1876-6G>C
NM_000088.4(COL1A1):c.1884T>C (p.Ala628=)
NM_000088.4(COL1A1):c.1929+10C>T
NM_000088.4(COL1A1):c.1929+12T>C
NM_000088.4(COL1A1):c.1929+7C>T
NM_000088.4(COL1A1):c.1930-29_1930-18del rs1598293534
NM_000088.4(COL1A1):c.1944T>C (p.Pro648=) rs1301142840
NM_000088.4(COL1A1):c.1951C>T (p.Pro651Ser)
NM_000088.4(COL1A1):c.1977T>C (p.Gly659=)
NM_000088.4(COL1A1):c.1983+12C>T
NM_000088.4(COL1A1):c.1983+14G>T
NM_000088.4(COL1A1):c.1983+17G>A
NM_000088.4(COL1A1):c.1983+20C>T
NM_000088.4(COL1A1):c.1983+9G>A rs201091992
NM_000088.4(COL1A1):c.1984-12C>G
NM_000088.4(COL1A1):c.1984-13C>G
NM_000088.4(COL1A1):c.1984-14T>C
NM_000088.4(COL1A1):c.1984-5C>G
NM_000088.4(COL1A1):c.1984-6C>A rs373873548
NM_000088.4(COL1A1):c.1984-6C>G rs373873548
NM_000088.4(COL1A1):c.2004C>T (p.Gly668=)
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr) rs563598815
NM_000088.4(COL1A1):c.201G>A (p.Lys67=)
NM_000088.4(COL1A1):c.2028+17C>G
NM_000088.4(COL1A1):c.2028+17C>T
NM_000088.4(COL1A1):c.2029-4C>A
NM_000088.4(COL1A1):c.2031C>A (p.Gly677=)
NM_000088.4(COL1A1):c.2031C>T (p.Gly677=)
NM_000088.4(COL1A1):c.2076T>C (p.Gly692=)
NM_000088.4(COL1A1):c.2109C>T (p.Pro703=)
NM_000088.4(COL1A1):c.2127+11C>T
NM_000088.4(COL1A1):c.2127+17A>T
NM_000088.4(COL1A1):c.2127+7G>C rs1184194000
NM_000088.4(COL1A1):c.2128-14T>C
NM_000088.4(COL1A1):c.2128-17del
NM_000088.4(COL1A1):c.2128-20T>A
NM_000088.4(COL1A1):c.2128-5C>T rs2144558904
NM_000088.4(COL1A1):c.2136T>C (p.Ala712=)
NM_000088.4(COL1A1):c.2136T>G (p.Ala712=) rs762156466
NM_000088.4(COL1A1):c.2139T>C (p.Gly713=)
NM_000088.4(COL1A1):c.2184A>C (p.Gly728=)
NM_000088.4(COL1A1):c.2220G>A (p.Gly740=)
NM_000088.4(COL1A1):c.2220G>T (p.Gly740=) rs1284213555
NM_000088.4(COL1A1):c.2235+11C>A rs572426023
NM_000088.4(COL1A1):c.2235+11C>G rs572426023
NM_000088.4(COL1A1):c.2235+12C>T
NM_000088.4(COL1A1):c.2244T>C (p.Ala748=) rs2144556720
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=) rs759665341
NM_000088.4(COL1A1):c.2289T>C (p.Arg763=)
NM_000088.4(COL1A1):c.2343+11C>T rs369846335
NM_000088.4(COL1A1):c.2343+12G>A
NM_000088.4(COL1A1):c.2343+15T>A
NM_000088.4(COL1A1):c.2344-12C>T
NM_000088.4(COL1A1):c.2358C>T (p.Pro786=)
NM_000088.4(COL1A1):c.2361C>T (p.Ser787=)
NM_000088.4(COL1A1):c.2382A>G (p.Gly794=) rs2144555296
NM_000088.4(COL1A1):c.2397+10G>C rs2144555148
NM_000088.4(COL1A1):c.2397+15C>T rs2144555128
NM_000088.4(COL1A1):c.2398-11T>C
NM_000088.4(COL1A1):c.2398-12C>A
NM_000088.4(COL1A1):c.2398-4C>T rs1054580849
NM_000088.4(COL1A1):c.2400A>G (p.Gly800=) rs1555572759
NM_000088.4(COL1A1):c.2427C>G (p.Gly809=)
NM_000088.4(COL1A1):c.2445C>A (p.Gly815=) rs762075856
NM_000088.4(COL1A1):c.2445C>G (p.Gly815=)
NM_000088.4(COL1A1):c.2451+13A>G
NM_000088.4(COL1A1):c.2451+14C>A
NM_000088.4(COL1A1):c.2451+15C>T
NM_000088.4(COL1A1):c.2451+16C>T
NM_000088.4(COL1A1):c.2451+17C>T
NM_000088.4(COL1A1):c.2452-17C>A
NM_000088.4(COL1A1):c.2452-17C>T
NM_000088.4(COL1A1):c.2452-19G>T
NM_000088.4(COL1A1):c.2452-4C>G
NM_000088.4(COL1A1):c.2452-4C>T rs1267688094
NM_000088.4(COL1A1):c.2457T>C (p.Ala819=)
NM_000088.4(COL1A1):c.2460C>T (p.Asp820=)
NM_000088.4(COL1A1):c.246C>G (p.Pro82=)
NM_000088.4(COL1A1):c.24G>A (p.Arg8=)
NM_000088.4(COL1A1):c.2508C>A (p.Gly836=)
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.4(COL1A1):c.2521C>T (p.Pro841Ser)
NM_000088.4(COL1A1):c.2530G>T (p.Ala844Ser)
NM_000088.4(COL1A1):c.2532C>A (p.Ala844=)
NM_000088.4(COL1A1):c.2554C>T (p.Pro852Ser)
NM_000088.4(COL1A1):c.2559+13G>A
NM_000088.4(COL1A1):c.2560-16C>T
NM_000088.4(COL1A1):c.2560-18C>A
NM_000088.4(COL1A1):c.2560-5T>C rs2144552369
NM_000088.4(COL1A1):c.2560-9C>G
NM_000088.4(COL1A1):c.2560-9C>T
NM_000088.4(COL1A1):c.2573C>T (p.Ala858Val)
NM_000088.4(COL1A1):c.258C>T (p.Val86=) rs773763288
NM_000088.4(COL1A1):c.2595C>G (p.Arg865=) rs117672175
NM_000088.4(COL1A1):c.2598C>G (p.Gly866=) rs1388778878
NM_000088.4(COL1A1):c.2613+17T>G
NM_000088.4(COL1A1):c.2614-20C>G
NM_000088.4(COL1A1):c.2619T>C (p.Ala873=) rs1321978569
NM_000088.4(COL1A1):c.261C>G (p.Pro87=)
NM_000088.4(COL1A1):c.2643C>G (p.Gly881=) rs1414204760
NM_000088.4(COL1A1):c.2644C>A (p.Arg882=)
NM_000088.4(COL1A1):c.2667+10T>A
NM_000088.4(COL1A1):c.2667+17G>A
NM_000088.4(COL1A1):c.2667+9C>T rs372981012
NM_000088.4(COL1A1):c.2668-11T>A
NM_000088.4(COL1A1):c.2668-14C>T
NM_000088.4(COL1A1):c.267C>A (p.Gly89=)
NM_000088.4(COL1A1):c.2684C>T (p.Pro895Leu)
NM_000088.4(COL1A1):c.2702C>T (p.Ala901Val)
NM_000088.4(COL1A1):c.2721A>G (p.Lys907=)
NM_000088.4(COL1A1):c.2729G>A (p.Arg910His)
NM_000088.4(COL1A1):c.2748T>C (p.Ala916=)
NM_000088.4(COL1A1):c.2829+15A>G rs2144549780
NM_000088.4(COL1A1):c.2829+8C>T
NM_000088.4(COL1A1):c.2830-17C>T rs755300568
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.4(COL1A1):c.2842A>G (p.Thr948Ala)
NM_000088.4(COL1A1):c.2845C>T (p.Pro949Ser) rs1434279534
NM_000088.4(COL1A1):c.2856A>G (p.Gln952=)
NM_000088.4(COL1A1):c.288C>G (p.Pro96=)
NM_000088.4(COL1A1):c.2892T>C (p.Pro964=)
NM_000088.4(COL1A1):c.2892T>G (p.Pro964=) rs753585193
NM_000088.4(COL1A1):c.2907G>A (p.Glu969=)
NM_000088.4(COL1A1):c.2922T>C (p.Gly974=)
NM_000088.4(COL1A1):c.2925T>C (p.Leu975=) rs2144548840
NM_000088.4(COL1A1):c.2931C>A (p.Gly977=) rs374615784
NM_000088.4(COL1A1):c.2934C>T (p.Pro978=)
NM_000088.4(COL1A1):c.2937+15C>T
NM_000088.4(COL1A1):c.2937+19T>C
NM_000088.4(COL1A1):c.2937+8C>G
NM_000088.4(COL1A1):c.2937+9C>T rs1555572393
NM_000088.4(COL1A1):c.2938-13_2938-10del
NM_000088.4(COL1A1):c.2938-7C>G
NM_000088.4(COL1A1):c.2949C>T (p.Gly983=)
NM_000088.4(COL1A1):c.294C>T (p.Gly98=)
NM_000088.4(COL1A1):c.298+10_298+43del
NM_000088.4(COL1A1):c.298+11G>A
NM_000088.4(COL1A1):c.298+15G>C
NM_000088.4(COL1A1):c.298+17G>A
NM_000088.4(COL1A1):c.298+18G>A
NM_000088.4(COL1A1):c.298+20C>T
NM_000088.4(COL1A1):c.2982T>C (p.Arg994=) rs1598288661
NM_000088.4(COL1A1):c.299-4C>T rs780745594
NM_000088.4(COL1A1):c.3016G>T (p.Ala1006Ser)
NM_000088.4(COL1A1):c.3023C>T (p.Pro1008Leu) rs1484351533
NM_000088.4(COL1A1):c.3045+15G>A rs2144547381
NM_000088.4(COL1A1):c.3045+18C>T
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3046-4G>T
NM_000088.4(COL1A1):c.3061G>A (p.Glu1021Lys)
NM_000088.4(COL1A1):c.3081C>T (p.Asp1027=)
NM_000088.4(COL1A1):c.3099+10C>T
NM_000088.4(COL1A1):c.3099+12A>G
NM_000088.4(COL1A1):c.3099+13C>T
NM_000088.4(COL1A1):c.3099+17C>T
NM_000088.4(COL1A1):c.3100-11C>T
NM_000088.4(COL1A1):c.3100-15T>C rs2144546220
NM_000088.4(COL1A1):c.3100-17C>T
NM_000088.4(COL1A1):c.3100-18C>A rs1906776879
NM_000088.4(COL1A1):c.3100-8C>A
NM_000088.4(COL1A1):c.3139G>C (p.Ala1047Pro) rs544409032
NM_000088.4(COL1A1):c.3207+12G>A
NM_000088.4(COL1A1):c.3207+8G>T rs866785621
NM_000088.4(COL1A1):c.3208-15C>T
NM_000088.4(COL1A1):c.3208-4C>A rs1221398462
NM_000088.4(COL1A1):c.3213T>C (p.Pro1071=)
NM_000088.4(COL1A1):c.321C>T (p.Thr107=)
NM_000088.4(COL1A1):c.3225C>A (p.Ala1075=)
NM_000088.4(COL1A1):c.3225C>T (p.Ala1075=)
NM_000088.4(COL1A1):c.3234C>T (p.Val1078=)
NM_000088.4(COL1A1):c.3237C>T (p.Gly1079=)
NM_000088.4(COL1A1):c.3252T>G (p.Arg1084=)
NM_000088.4(COL1A1):c.3255C>A (p.Gly1085=) rs369670483
NM_000088.4(COL1A1):c.3261+11T>C
NM_000088.4(COL1A1):c.3261+18T>C
NM_000088.4(COL1A1):c.3261+20C>G rs751540399
NM_000088.4(COL1A1):c.3261+9C>A
NM_000088.4(COL1A1):c.3262-15C>T
NM_000088.4(COL1A1):c.3262-17C>T
NM_000088.4(COL1A1):c.3262-20T>A rs1906706503
NM_000088.4(COL1A1):c.3279T>G (p.Arg1093=)
NM_000088.4(COL1A1):c.3300C>A (p.Gly1100=)
NM_000088.4(COL1A1):c.3310G>A (p.Asp1104Asn)
NM_000088.4(COL1A1):c.3327T>C (p.Gly1109=)
NM_000088.4(COL1A1):c.334-12C>T
NM_000088.4(COL1A1):c.334-15C>T
NM_000088.4(COL1A1):c.334-19T>C rs2144592157
NM_000088.4(COL1A1):c.334-5C>T rs115997082
NM_000088.4(COL1A1):c.334-6C>T rs1598301467
NM_000088.4(COL1A1):c.3345C>T (p.Gly1115=)
NM_000088.4(COL1A1):c.3355C>A (p.Pro1119Thr)
NM_000088.4(COL1A1):c.3369+10C>A
NM_000088.4(COL1A1):c.3369+15C>G
NM_000088.4(COL1A1):c.3369+16C>T
NM_000088.4(COL1A1):c.3369+20C>T
NM_000088.4(COL1A1):c.3369+9G>T rs1009435359
NM_000088.4(COL1A1):c.3370-13A>T
NM_000088.4(COL1A1):c.3370-18T>C
NM_000088.4(COL1A1):c.3370-7C>T
NM_000088.4(COL1A1):c.3370-9G>A
NM_000088.4(COL1A1):c.3376C>T (p.Pro1126Ser)
NM_000088.4(COL1A1):c.33C>G (p.Leu11=) rs1024499126
NM_000088.4(COL1A1):c.3417T>C (p.Gly1139=)
NM_000088.4(COL1A1):c.3423+9T>C
NM_000088.4(COL1A1):c.3424-11C>G
NM_000088.4(COL1A1):c.3424-12C>T
NM_000088.4(COL1A1):c.3424-5T>C rs2144539347
NM_000088.4(COL1A1):c.3429C>G (p.Pro1143=) rs762386727
NM_000088.4(COL1A1):c.344G>A (p.Gly115Glu)
NM_000088.4(COL1A1):c.3465C>G (p.Leu1155=)
NM_000088.4(COL1A1):c.3468C>G (p.Asn1156Lys)
NM_000088.4(COL1A1):c.3471T>G (p.Gly1157=) rs2144538994
NM_000088.4(COL1A1):c.3486T>A (p.Ile1162=)
NM_000088.4(COL1A1):c.3492C>A (p.Pro1164=)
NM_000088.4(COL1A1):c.3509G>A (p.Arg1170His)
NM_000088.4(COL1A1):c.3531+10C>T rs41316721
NM_000088.4(COL1A1):c.3532-14C>T
NM_000088.4(COL1A1):c.3532-18T>C rs1906596208
NM_000088.4(COL1A1):c.3532-8C>T rs1555571885
NM_000088.4(COL1A1):c.3534T>A (p.Gly1178=)
NM_000088.4(COL1A1):c.3535C>T (p.Pro1179Ser)
NM_000088.4(COL1A1):c.354C>T (p.Gly118=)
NM_000088.4(COL1A1):c.3564C>G (p.Pro1188=)
NM_000088.4(COL1A1):c.356C>G (p.Pro119Arg)
NM_000088.4(COL1A1):c.3585T>C (p.Gly1195=) rs1906585690
NM_000088.4(COL1A1):c.3594C>T (p.Phe1198=)
NM_000088.4(COL1A1):c.3618A>G (p.Gln1206=)
NM_000088.4(COL1A1):c.3637G>A (p.Gly1213Ser)
NM_000088.4(COL1A1):c.3645C>T (p.Tyr1215=)
NM_000088.4(COL1A1):c.3668T>A (p.Val1223Glu)
NM_000088.4(COL1A1):c.3674G>A (p.Arg1225His)
NM_000088.4(COL1A1):c.3677A>G (p.Asp1226Gly)
NM_000088.4(COL1A1):c.3684C>T (p.Asp1228=)
NM_000088.4(COL1A1):c.369+15C>T rs2144591865
NM_000088.4(COL1A1):c.369+16del
NM_000088.4(COL1A1):c.3699C>T (p.Thr1233=)
NM_000088.4(COL1A1):c.370-17G>A
NM_000088.4(COL1A1):c.370-18C>T
NM_000088.4(COL1A1):c.3714G>A (p.Leu1238=)
NM_000088.4(COL1A1):c.3726C>A (p.Ile1242=) rs768572265
NM_000088.4(COL1A1):c.3726C>T (p.Ile1242=) rs768572265
NM_000088.4(COL1A1):c.3732C>T (p.Asn1244=) rs994196345
NM_000088.4(COL1A1):c.3758A>G (p.Lys1253Arg)
NM_000088.4(COL1A1):c.375C>T (p.Pro125=)
NM_000088.4(COL1A1):c.376G>T (p.Ala126Ser) rs1424117367
NM_000088.4(COL1A1):c.3795C>T (p.Cys1265=)
NM_000088.4(COL1A1):c.3798C>T (p.His1266=) rs1567752621
NM_000088.4(COL1A1):c.3814+18C>T
NM_000088.4(COL1A1):c.3814+19C>A
NM_000088.4(COL1A1):c.3815-11C>T
NM_000088.4(COL1A1):c.3815-7_3815-6insT rs1598285133
NM_000088.4(COL1A1):c.3815-8T>A rs1598285150
NM_000088.4(COL1A1):c.381C>A (p.Gly127=)
NM_000088.4(COL1A1):c.381C>T (p.Gly127=)
NM_000088.4(COL1A1):c.3837C>T (p.Asn1279=)
NM_000088.4(COL1A1):c.384C>A (p.Pro128=) rs1907857933
NM_000088.4(COL1A1):c.3882G>A (p.Glu1294=)
NM_000088.4(COL1A1):c.3900G>A (p.Val1300=) rs1337482864
NM_000088.4(COL1A1):c.3914C>T (p.Pro1305Leu) rs201746814
NM_000088.4(COL1A1):c.3969T>C (p.His1323=)
NM_000088.4(COL1A1):c.3981C>T (p.Gly1327=)
NM_000088.4(COL1A1):c.3995A>G (p.Asp1332Gly)
NM_000088.4(COL1A1):c.3996T>C (p.Asp1332=) rs1555571730
NM_000088.4(COL1A1):c.4005+10C>G
NM_000088.4(COL1A1):c.4005+9G>A
NM_000088.4(COL1A1):c.4006-11C>A
NM_000088.4(COL1A1):c.4006-12C>G rs778644341
NM_000088.4(COL1A1):c.4006-20del rs1194886388
NM_000088.4(COL1A1):c.4006-9C>A
NM_000088.4(COL1A1):c.4006-9C>T rs193922156
NM_000088.4(COL1A1):c.4011G>A (p.Glu1337=)
NM_000088.4(COL1A1):c.4017C>A (p.Gly1339=) rs201256042
NM_000088.4(COL1A1):c.4018G>T (p.Gly1340Cys)
NM_000088.4(COL1A1):c.4020C>G (p.Gly1340=)
NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn) rs982770651
NM_000088.4(COL1A1):c.405T>C (p.Pro135=)
NM_000088.4(COL1A1):c.414T>G (p.Pro138=) rs2144591197
NM_000088.4(COL1A1):c.4154A>G (p.Lys1385Arg)
NM_000088.4(COL1A1):c.4155G>A (p.Lys1385=)
NM_000088.4(COL1A1):c.4183G>A (p.Glu1395Lys) rs373474549
NM_000088.4(COL1A1):c.4236C>T (p.Val1412=) rs532172482
NM_000088.4(COL1A1):c.4239T>C (p.Asp1413=)
NM_000088.4(COL1A1):c.4242C>T (p.Gly1414=)
NM_000088.4(COL1A1):c.4248+17C>T
NM_000088.4(COL1A1):c.4249-14C>T rs756459768
NM_000088.4(COL1A1):c.4249-6C>T
NM_000088.4(COL1A1):c.4293C>T (p.Thr1431=)
NM_000088.4(COL1A1):c.4296C>T (p.Thr1432=)
NM_000088.4(COL1A1):c.429C>T (p.Pro143=)
NM_000088.4(COL1A1):c.429CCCCGGACC[3] (p.143PPG[5]) rs769867566
NM_000088.4(COL1A1):c.4329C>G (p.Ala1443=)
NM_000088.4(COL1A1):c.432C>T (p.Pro144=)
NM_000088.4(COL1A1):c.436C>A (p.Pro146Thr) rs756846639
NM_000088.4(COL1A1):c.436C>T (p.Pro146Ser)
NM_000088.4(COL1A1):c.4371C>T (p.Asp1457=) rs112873723
NM_000088.4(COL1A1):c.4392G>A (p.Leu1464=)
NM_000088.4(COL1A1):c.462C>A (p.Gly154=)
NM_000088.4(COL1A1):c.471+9AG[4]
NM_000088.4(COL1A1):c.472-13T>C
NM_000088.4(COL1A1):c.472-13_472-12del rs1210027118
NM_000088.4(COL1A1):c.472-4C>G rs753888456
NM_000088.4(COL1A1):c.486G>A (p.Gln162=)
NM_000088.4(COL1A1):c.487C>T (p.Leu163=)
NM_000088.4(COL1A1):c.501T>C (p.Tyr167=) rs946705319
NM_000088.4(COL1A1):c.516C>A (p.Thr172=)
NM_000088.4(COL1A1):c.516C>T (p.Thr172=) rs377195143
NM_000088.4(COL1A1):c.543+18G>C
NM_000088.4(COL1A1):c.544-5T>C rs1598300378
NM_000088.4(COL1A1):c.544-6C>T
NM_000088.4(COL1A1):c.552T>G (p.Ser184=)
NM_000088.4(COL1A1):c.560G>A (p.Arg187His)
NM_000088.4(COL1A1):c.576C>T (p.Pro192=) rs747650152
NM_000088.4(COL1A1):c.588+15C>G rs371817394
NM_000088.4(COL1A1):c.589-13C>T
NM_000088.4(COL1A1):c.589-18T>A
NM_000088.4(COL1A1):c.589-19C>A
NM_000088.4(COL1A1):c.589-7TC[3]
NM_000088.4(COL1A1):c.618T>A (p.Gly206=)
NM_000088.4(COL1A1):c.627C>A (p.Gly209=) rs201136122
NM_000088.4(COL1A1):c.627C>G (p.Gly209=)
NM_000088.4(COL1A1):c.632C>T (p.Pro211Leu) rs892540136
NM_000088.4(COL1A1):c.639T>A (p.Ala213=)
NM_000088.4(COL1A1):c.642+13T>C
NM_000088.4(COL1A1):c.642+14A>G
NM_000088.4(COL1A1):c.642+16A>G
NM_000088.4(COL1A1):c.643-11A>G rs1454517926
NM_000088.4(COL1A1):c.643-15T>C rs1907724881
NM_000088.4(COL1A1):c.643-17T>C
NM_000088.4(COL1A1):c.643-20_643-19del
NM_000088.4(COL1A1):c.643-9C>A rs1907724010
NM_000088.4(COL1A1):c.659G>A (p.Arg220Gln)
NM_000088.4(COL1A1):c.696+11C>T
NM_000088.4(COL1A1):c.696+9C>A
NM_000088.4(COL1A1):c.697-7C>T rs768782428
NM_000088.4(COL1A1):c.697-9C>T
NM_000088.4(COL1A1):c.699G>A (p.Gly233=)
NM_000088.4(COL1A1):c.69A>G (p.Gln23=) rs780775891
NM_000088.4(COL1A1):c.71A>G (p.Glu24Gly)
NM_000088.4(COL1A1):c.738T>C (p.Pro246=)
NM_000088.4(COL1A1):c.751-13C>T
NM_000088.4(COL1A1):c.751-20T>G
NM_000088.4(COL1A1):c.762A>T (p.Gly254=) rs759735608
NM_000088.4(COL1A1):c.780C>G (p.Gly260=)
NM_000088.4(COL1A1):c.783C>G (p.Leu261=) rs369971149
NM_000088.4(COL1A1):c.783C>T (p.Leu261=)
NM_000088.4(COL1A1):c.795G>A (p.Lys265=) rs1907651576
NM_000088.4(COL1A1):c.804+16del
NM_000088.4(COL1A1):c.804+20T>C
NM_000088.4(COL1A1):c.804+9C>A rs2144583154
NM_000088.4(COL1A1):c.805-14C>G
NM_000088.4(COL1A1):c.84C>A (p.Val28=)
NM_000088.4(COL1A1):c.855T>C (p.Pro285=) rs1598298624
NM_000088.4(COL1A1):c.858+17A>G rs2144581710
NM_000088.4(COL1A1):c.861T>A (p.Gly287=)
NM_000088.4(COL1A1):c.885T>A (p.Asn295Lys)
NM_000088.4(COL1A1):c.894T>C (p.Pro298=)
NM_000088.4(COL1A1):c.903+11C>G
NM_000088.4(COL1A1):c.903+12C>G
NM_000088.4(COL1A1):c.903+16del
NM_000088.4(COL1A1):c.903+9G>A
NM_000088.4(COL1A1):c.904-17C>G
NM_000088.4(COL1A1):c.904-17C>T
NM_000088.4(COL1A1):c.972T>C (p.Asn324=) rs565335839
NM_000088.4(COL1A1):c.997C>T (p.Pro333Ser)

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