ClinVar Miner

List of variants in gene COL1A1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 328
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=) rs1800218 0.04610
NM_000088.4(COL1A1):c.177G>T (p.Arg59=) rs1057297 0.04003
NM_000088.4(COL1A1):c.2175C>T (p.Gly725=) rs35017779 0.01114
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00788
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00578
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00480
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=) rs41316725 0.00431
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=) rs144134990 0.00245
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00087
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=) rs148659814 0.00085
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys) rs138544681 0.00069
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_000088.4(COL1A1):c.1587C>T (p.Pro529=) rs113437353 0.00061
NM_000088.4(COL1A1):c.3309C>T (p.Gly1103=) rs142312753 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.3123C>T (p.Pro1041=) rs145608939 0.00042
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.462C>T (p.Gly154=) rs41317351 0.00038
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214 0.00031
NM_000088.4(COL1A1):c.2414C>T (p.Pro805Leu) rs145307365 0.00029
NM_000088.4(COL1A1):c.3876C>T (p.Asn1292=) rs143049736 0.00029
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=) rs41316673 0.00026
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.2466A>G (p.Gln822=) rs551706871 0.00019
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=) rs151328660 0.00018
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
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.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
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.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.3196C>T (p.Arg1066Cys) rs72654799 0.00009
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) rs369699409 0.00008
NM_000088.4(COL1A1):c.1405C>A (p.Arg469=) rs762428889 0.00007
NM_000088.4(COL1A1):c.993C>T (p.Ala331=) rs147277057 0.00007
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.2116G>A (p.Asp706Asn) rs372215246 0.00006
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=) rs200188855 0.00006
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124 0.00006
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=) rs200620805 0.00006
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His) rs774001209 0.00006
NM_000088.4(COL1A1):c.3978C>T (p.Phe1326=) rs200145743 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 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.1200+5G>A rs374322003 0.00005
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.690A>G (p.Gly230=) rs776786081 0.00005
NM_000088.4(COL1A1):c.1109G>A (p.Arg370His) rs750756697 0.00004
NM_000088.4(COL1A1):c.1695C>T (p.Pro565=) rs761635519 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.2355T>A (p.Gly785=) rs137937544 0.00004
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr) rs372029024 0.00004
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 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.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000088.4(COL1A1):c.3846C>T (p.Cys1282=) rs772750234 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.4196G>A (p.Arg1399His) rs146035171 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.1272C>T (p.Gly424=) rs765154255 0.00003
NM_000088.4(COL1A1):c.1491C>T (p.Gly497=) rs773286290 0.00003
NM_000088.4(COL1A1):c.1776C>T (p.Pro592=) rs777014529 0.00003
NM_000088.4(COL1A1):c.2910A>G (p.Arg970=) rs763850566 0.00003
NM_000088.4(COL1A1):c.3000G>C (p.Met1000Ile) rs769158560 0.00003
NM_000088.4(COL1A1):c.3045+3G>A rs41316695 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.3258C>T (p.Pro1086=) rs200319927 0.00003
NM_000088.4(COL1A1):c.36C>T (p.Leu12=) rs748155900 0.00003
NM_000088.4(COL1A1):c.3769C>T (p.Arg1257Cys) rs368295399 0.00003
NM_000088.4(COL1A1):c.4321G>A (p.Asp1441Asn) rs72656351 0.00003
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=) rs543735501 0.00002
NM_000088.4(COL1A1):c.1793G>A (p.Arg598Gln) rs757147791 0.00002
NM_000088.4(COL1A1):c.1881C>T (p.Pro627=) rs550265501 0.00002
NM_000088.4(COL1A1):c.2301C>T (p.Gly767=) rs773279512 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.3680G>A (p.Arg1227His) rs543809032 0.00002
NM_000088.4(COL1A1):c.3687C>T (p.Leu1229=) rs765353412 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.4302C>T (p.Thr1434=) rs1467776318 0.00002
NM_000088.4(COL1A1):c.549C>T (p.Pro183=) rs1250249821 0.00002
NM_000088.4(COL1A1):c.1056+3G>A rs367802613 0.00001
NM_000088.4(COL1A1):c.1161C>A (p.Asn387Lys) rs899337697 0.00001
NM_000088.4(COL1A1):c.1209T>C (p.Pro403=) rs200786825 0.00001
NM_000088.4(COL1A1):c.1404G>A (p.Lys468=) rs1240489656 0.00001
NM_000088.4(COL1A1):c.1423C>A (p.Pro475Thr) rs1394634754 0.00001
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) rs1051473344 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.2100C>T (p.Asn700=) rs201122145 0.00001
NM_000088.4(COL1A1):c.2181G>A (p.Gln727=) rs777571745 0.00001
NM_000088.4(COL1A1):c.2204C>T (p.Ala735Val) rs990375606 0.00001
NM_000088.4(COL1A1):c.2274C>T (p.Gly758=) rs200111312 0.00001
NM_000088.4(COL1A1):c.2464C>G (p.Gln822Glu) rs72651668 0.00001
NM_000088.4(COL1A1):c.2481C>T (p.Gly827=) rs779002822 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.3013T>C (p.Leu1005=) rs772060459 0.00001
NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=) rs751239116 0.00001
NM_000088.4(COL1A1):c.3168C>T (p.Pro1056=) rs913216741 0.00001
NM_000088.4(COL1A1):c.3176C>T (p.Pro1059Leu) rs547798347 0.00001
NM_000088.4(COL1A1):c.3246C>T (p.Gly1082=) rs772906802 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.3619G>A (p.Glu1207Lys) rs746671446 0.00001
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372 0.00001
NM_000088.4(COL1A1):c.393A>T (p.Arg131=) rs768576692 0.00001
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) rs754984293 0.00001
NM_000088.4(COL1A1):c.430C>T (p.Pro144Ser) rs908422422 0.00001
NM_000088.4(COL1A1):c.4320C>T (p.Ile1440=) rs770326881 0.00001
NM_000088.4(COL1A1):c.4368C>T (p.Phe1456=) rs765224053 0.00001
NM_000088.4(COL1A1):c.628G>A (p.Glu210Lys) rs766407680 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.945C>T (p.Ala315=) rs780242725 0.00001
NM_000088.4(COL1A1):c.1011C>T (p.Thr337=) rs774708577
NM_000088.4(COL1A1):c.1032C>T (p.Gly344=)
NM_000088.4(COL1A1):c.1056+2T>C
NM_000088.4(COL1A1):c.1056+5G>C
NM_000088.4(COL1A1):c.105C>T (p.Ile35=)
NM_000088.4(COL1A1):c.106C>G (p.Pro36Ala)
NM_000088.4(COL1A1):c.1077G>T (p.Gly359=)
NM_000088.4(COL1A1):c.1098C>T (p.Pro366=)
NM_000088.4(COL1A1):c.1125C>A (p.Pro375=)
NM_000088.4(COL1A1):c.1128del (p.Gly377fs) rs72645370
NM_000088.4(COL1A1):c.1170T>C (p.Ala390=)
NM_000088.4(COL1A1):c.1243C>A (p.Arg415=)
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.1254T>G (p.Ser418=)
NM_000088.4(COL1A1):c.1259C>G (p.Pro420Arg)
NM_000088.4(COL1A1):c.1299+5G>A rs193922139
NM_000088.4(COL1A1):c.1338T>A (p.Gly446=)
NM_000088.4(COL1A1):c.1341T>A (p.Ala447=)
NM_000088.4(COL1A1):c.1374A>G (p.Gly458=)
NM_000088.4(COL1A1):c.1425C>T (p.Pro475=)
NM_000088.4(COL1A1):c.1443C>T (p.Pro481=) rs770169695
NM_000088.4(COL1A1):c.1464T>G (p.Gly488=)
NM_000088.4(COL1A1):c.1496_1497del (p.Asp499fs) rs1555573789
NM_000088.4(COL1A1):c.1521C>T (p.Pro507=)
NM_000088.4(COL1A1):c.1533T>G (p.Arg511=) rs899423835
NM_000088.4(COL1A1):c.1551T>C (p.Ala517=)
NM_000088.4(COL1A1):c.1629C>T (p.Ser543=)
NM_000088.4(COL1A1):c.1656A>G (p.Lys552=)
NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg) rs72648359
NM_000088.4(COL1A1):c.168G>A (p.Glu56=) rs371006337
NM_000088.4(COL1A1):c.1728G>A (p.Gln576=) rs1410003274
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.1822-3C>A
NM_000088.4(COL1A1):c.183C>T (p.Cys61=)
NM_000088.4(COL1A1):c.186C>G (p.Val62=)
NM_000088.4(COL1A1):c.1884T>C (p.Ala628=)
NM_000088.4(COL1A1):c.1951C>A (p.Pro651Thr)
NM_000088.4(COL1A1):c.1951C>T (p.Pro651Ser)
NM_000088.4(COL1A1):c.196G>C (p.Gly66Arg)
NM_000088.4(COL1A1):c.2004C>T (p.Gly668=)
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr) rs563598815
NM_000088.4(COL1A1):c.2010T>C (p.Pro670=)
NM_000088.4(COL1A1):c.2029-5T>C
NM_000088.4(COL1A1):c.2049C>G (p.Gly683=)
NM_000088.4(COL1A1):c.2050G>A (p.Glu684Lys)
NM_000088.4(COL1A1):c.2076T>C (p.Gly692=)
NM_000088.4(COL1A1):c.2078C>T (p.Pro693Leu)
NM_000088.4(COL1A1):c.2097C>T (p.Ala699=)
NM_000088.4(COL1A1):c.2109C>T (p.Pro703=)
NM_000088.4(COL1A1):c.21C>A (p.Leu7=)
NM_000088.4(COL1A1):c.2223T>C (p.Pro741=)
NM_000088.4(COL1A1):c.2257G>A (p.Ala753Thr) rs764478745
NM_000088.4(COL1A1):c.2262T>C (p.Asp754=)
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=) rs759665341
NM_000088.4(COL1A1):c.2323G>A (p.Ala775Thr)
NM_000088.4(COL1A1):c.2384C>T (p.Ala795Val)
NM_000088.4(COL1A1):c.2386C>T (p.Arg796Cys) rs751890158
NM_000088.4(COL1A1):c.2424C>G (p.Pro808=)
NM_000088.4(COL1A1):c.2460C>T (p.Asp820=)
NM_000088.4(COL1A1):c.246C>G (p.Pro82=)
NM_000088.4(COL1A1):c.2508C>A (p.Gly836=)
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.4(COL1A1):c.252C>T (p.Ala84=)
NM_000088.4(COL1A1):c.2557A>C (p.Ile853Leu)
NM_000088.4(COL1A1):c.2560-5del
NM_000088.4(COL1A1):c.258C>A (p.Val86=)
NM_000088.4(COL1A1):c.258C>G (p.Val86=)
NM_000088.4(COL1A1):c.258C>T (p.Val86=) rs773763288
NM_000088.4(COL1A1):c.2631T>G (p.Pro877=)
NM_000088.4(COL1A1):c.2643C>G (p.Gly881=) rs1414204760
NM_000088.4(COL1A1):c.2721A>G (p.Lys907=)
NM_000088.4(COL1A1):c.2772C>T (p.Pro924=)
NM_000088.4(COL1A1):c.2781C>T (p.Pro927=)
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.4(COL1A1):c.288del (p.Asp97fs) rs2144593759
NM_000088.4(COL1A1):c.2931C>A (p.Gly977=) rs374615784
NM_000088.4(COL1A1):c.2949C>T (p.Gly983=)
NM_000088.4(COL1A1):c.3024C>A (p.Pro1008=)
NM_000088.4(COL1A1):c.3048G>A (p.Gly1016=)
NM_000088.4(COL1A1):c.3057T>C (p.Gly1019=)
NM_000088.4(COL1A1):c.3057T>G (p.Gly1019=)
NM_000088.4(COL1A1):c.3077G>A (p.Arg1026Gln)
NM_000088.4(COL1A1):c.3078A>G (p.Arg1026=)
NM_000088.4(COL1A1):c.3081C>T (p.Asp1027=)
NM_000088.4(COL1A1):c.3225C>T (p.Ala1075=)
NM_000088.4(COL1A1):c.3237C>T (p.Gly1079=)
NM_000088.4(COL1A1):c.3238C>T (p.Pro1080Ser)
NM_000088.4(COL1A1):c.3255C>A (p.Gly1085=) rs369670483
NM_000088.4(COL1A1):c.3261C>T (p.Ala1087=)
NM_000088.4(COL1A1):c.3293A>G (p.Glu1098Gly)
NM_000088.4(COL1A1):c.330C>A (p.Val110=)
NM_000088.4(COL1A1):c.3327T>C (p.Gly1109=)
NM_000088.4(COL1A1):c.334-5C>T rs115997082
NM_000088.4(COL1A1):c.3371G>A (p.Gly1124Asp)
NM_000088.4(COL1A1):c.33C>G (p.Leu11=) rs1024499126
NM_000088.4(COL1A1):c.3402C>T (p.Ala1134=)
NM_000088.4(COL1A1):c.3424-4C>T
NM_000088.4(COL1A1):c.345A>T (p.Gly115=) rs1907874908
NM_000088.4(COL1A1):c.3491C>A (p.Pro1164His)
NM_000088.4(COL1A1):c.3495T>C (p.Pro1165=)
NM_000088.4(COL1A1):c.3501T>C (p.Pro1167=)
NM_000088.4(COL1A1):c.3508C>T (p.Arg1170Cys) rs1373318649
NM_000088.4(COL1A1):c.3540C>T (p.Pro1180=)
NM_000088.4(COL1A1):c.3543C>A (p.Gly1181=)
NM_000088.4(COL1A1):c.3559G>T (p.Gly1187Cys)
NM_000088.4(COL1A1):c.3594C>T (p.Phe1198=)
NM_000088.4(COL1A1):c.3601C>T (p.Leu1201=)
NM_000088.4(COL1A1):c.3621G>A (p.Glu1207=)
NM_000088.4(COL1A1):c.3624G>A (p.Lys1208=)
NM_000088.4(COL1A1):c.3649C>A (p.Arg1217=)
NM_000088.4(COL1A1):c.3667G>A (p.Val1223Met)
NM_000088.4(COL1A1):c.3672T>C (p.Val1224=)
NM_000088.4(COL1A1):c.3674G>A (p.Arg1225His)
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.372A>T (p.Gly124=)
NM_000088.4(COL1A1):c.3744A>T (p.Pro1248=)
NM_000088.4(COL1A1):c.3747G>A (p.Glu1249=)
NM_000088.4(COL1A1):c.3758A>G (p.Lys1253Arg)
NM_000088.4(COL1A1):c.3765C>A (p.Pro1255=)
NM_000088.4(COL1A1):c.3765C>T (p.Pro1255=)
NM_000088.4(COL1A1):c.3786C>A (p.Leu1262=)
NM_000088.4(COL1A1):c.3798C>T (p.His1266=) rs1567752621
NM_000088.4(COL1A1):c.381C>A (p.Gly127=)
NM_000088.4(COL1A1):c.381C>G (p.Gly127=)
NM_000088.4(COL1A1):c.387T>C (p.Pro129=)
NM_000088.4(COL1A1):c.388G>T (p.Gly130Cys) rs1555575085
NM_000088.4(COL1A1):c.3952_3954del (p.Pro1318del) rs1451296434
NM_000088.4(COL1A1):c.3966G>A (p.Arg1322=)
NM_000088.4(COL1A1):c.3969T>C (p.His1323=)
NM_000088.4(COL1A1):c.396T>C (p.Asp132=)
NM_000088.4(COL1A1):c.3981C>T (p.Gly1327=)
NM_000088.4(COL1A1):c.4011G>A (p.Glu1337=)
NM_000088.4(COL1A1):c.4017C>A (p.Gly1339=) rs201256042
NM_000088.4(COL1A1):c.4023G>A (p.Gln1341=)
NM_000088.4(COL1A1):c.4029C>A (p.Ser1343=)
NM_000088.4(COL1A1):c.4053G>A (p.Gln1351=)
NM_000088.4(COL1A1):c.4056G>T (p.Leu1352=)
NM_000088.4(COL1A1):c.4062C>T (p.Phe1354=)
NM_000088.4(COL1A1):c.4086C>A (p.Ala1362=)
NM_000088.4(COL1A1):c.4119C>T (p.Ser1373=)
NM_000088.4(COL1A1):c.411G>A (p.Gln137=)
NM_000088.4(COL1A1):c.414T>G (p.Pro138=) rs2144591197
NM_000088.4(COL1A1):c.4180_4182del (p.Asn1394del)
NM_000088.4(COL1A1):c.4236C>T (p.Val1412=) rs532172482
NM_000088.4(COL1A1):c.4248+5G>C
NM_000088.4(COL1A1):c.4260A>T (p.Gly1420=)
NM_000088.4(COL1A1):c.429CCCCGGACC[1] (p.143PPG[3]) rs769867566
NM_000088.4(COL1A1):c.4323T>C (p.Asp1441=)
NM_000088.4(COL1A1):c.4329C>T (p.Ala1443=)
NM_000088.4(COL1A1):c.4338C>T (p.Asp1446=)
NM_000088.4(COL1A1):c.4356G>A (p.Gln1452=)
NM_000088.4(COL1A1):c.4363G>A (p.Gly1455Ser)
NM_000088.4(COL1A1):c.4371C>T (p.Asp1457=) rs112873723
NM_000088.4(COL1A1):c.4383C>A (p.Val1461=)
NM_000088.4(COL1A1):c.462C>A (p.Gly154=)
NM_000088.4(COL1A1):c.486G>A (p.Gln162=)
NM_000088.4(COL1A1):c.504T>C (p.Asp168=)
NM_000088.4(COL1A1):c.516C>A (p.Thr172=)
NM_000088.4(COL1A1):c.516C>T (p.Thr172=) rs377195143
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp) rs1114167408
NM_000088.4(COL1A1):c.627C>A (p.Gly209=) rs201136122
NM_000088.4(COL1A1):c.661G>A (p.Gly221Ser) rs72667037
NM_000088.4(COL1A1):c.6C>T (p.Phe2=)
NM_000088.4(COL1A1):c.71A>G (p.Glu24Gly)
NM_000088.4(COL1A1):c.939T>A (p.Pro313=)
NM_000088.4(COL1A1):c.969A>C (p.Gly323=)

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