ClinVar Miner

List of variants in gene COL1A1 reported as uncertain significance for Osteogenesis imperfecta type I

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 390
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
NM_000088.4(COL1A1):c.3531+4T>C rs145251615 0.00009
NM_000088.4(COL1A1):c.4376G>C (p.Gly1459Ala) rs767250343 0.00009
NM_000088.4(COL1A1):c.3532-3C>T rs369283493 0.00007
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246 0.00006
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000088.4(COL1A1):c.1200+5G>A rs374322003 0.00005
NM_000088.4(COL1A1):c.1721G>A (p.Arg574His) rs763788602 0.00004
NM_000088.4(COL1A1):c.1929+4A>C rs376244140 0.00004
NM_000088.4(COL1A1):c.395A>G (p.Asp132Gly) rs746847841 0.00004
NM_000088.4(COL1A1):c.401T>A (p.Ile134Asn) rs771647906 0.00004
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His) rs149820303 0.00004
NM_000088.4(COL1A1):c.4214G>A (p.Arg1405His) rs770826227 0.00004
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His) rs780422688 0.00003
NM_000088.4(COL1A1):c.1888G>A (p.Glu630Lys) rs775106436 0.00003
NM_000088.4(COL1A1):c.2945C>T (p.Pro982Leu) rs940298764 0.00003
NM_000088.4(COL1A1):c.298+6G>T rs753705753 0.00003
NM_000088.4(COL1A1):c.3045+3G>A rs41316695 0.00003
NM_000088.4(COL1A1):c.3727G>A (p.Glu1243Lys) rs373777457 0.00003
NM_000088.4(COL1A1):c.4066C>T (p.Arg1356Cys) rs1341595487 0.00003
NM_000088.4(COL1A1):c.1299C>T (p.Ser433=) rs776229611 0.00002
NM_000088.4(COL1A1):c.1793G>A (p.Arg598Gln) rs757147791 0.00002
NM_000088.4(COL1A1):c.2451T>C (p.Pro817=) rs374465457 0.00002
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307 0.00002
NM_000088.4(COL1A1):c.3535C>A (p.Pro1179Thr) rs779767483 0.00002
NM_000088.4(COL1A1):c.4248G>A (p.Thr1416=) rs746565111 0.00002
NM_000088.4(COL1A1):c.696+6T>C rs747108049 0.00002
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe) rs72645362 0.00001
NM_000088.4(COL1A1):c.1056+3G>A rs367802613 0.00001
NM_000088.4(COL1A1):c.1153G>A (p.Ala385Thr) rs548048698 0.00001
NM_000088.4(COL1A1):c.1423C>A (p.Pro475Thr) rs1394634754 0.00001
NM_000088.4(COL1A1):c.1540C>T (p.Pro514Ser) rs753739947 0.00001
NM_000088.4(COL1A1):c.164C>A (p.Pro55His) rs771489142 0.00001
NM_000088.4(COL1A1):c.1763C>A (p.Ala588Asp) rs771593907 0.00001
NM_000088.4(COL1A1):c.1875+3G>T rs138164489 0.00001
NM_000088.4(COL1A1):c.1876-3C>T rs989802421 0.00001
NM_000088.4(COL1A1):c.1876-8C>T rs1329959391 0.00001
NM_000088.4(COL1A1):c.2036G>C (p.Arg679Thr) rs972507105 0.00001
NM_000088.4(COL1A1):c.2053C>T (p.Arg685Cys) rs764826942 0.00001
NM_000088.4(COL1A1):c.2059G>A (p.Val687Met) rs553233250 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.2235+4A>C rs1382593990 0.00001
NM_000088.4(COL1A1):c.2333C>T (p.Pro778Leu) rs1181679779 0.00001
NM_000088.4(COL1A1):c.2357C>T (p.Pro786Leu) rs756537765 0.00001
NM_000088.4(COL1A1):c.2387G>A (p.Arg796His) rs72651662 0.00001
NM_000088.4(COL1A1):c.2397C>T (p.Pro799=) rs750493684 0.00001
NM_000088.4(COL1A1):c.23G>A (p.Arg8Gln) rs1196007286 0.00001
NM_000088.4(COL1A1):c.2404C>T (p.Arg802Cys) rs1459870410 0.00001
NM_000088.4(COL1A1):c.2464C>G (p.Gln822Glu) rs72651668 0.00001
NM_000088.4(COL1A1):c.2645G>A (p.Arg882Gln) rs754077452 0.00001
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=) rs746453576 0.00001
NM_000088.4(COL1A1):c.287C>T (p.Pro96Leu) rs747163212 0.00001
NM_000088.4(COL1A1):c.2981G>A (p.Arg994His) rs548928043 0.00001
NM_000088.4(COL1A1):c.308C>T (p.Thr103Ile) rs369883704 0.00001
NM_000088.4(COL1A1):c.3176C>T (p.Pro1059Leu) rs547798347 0.00001
NM_000088.4(COL1A1):c.3197G>A (p.Arg1066His) rs752075205 0.00001
NM_000088.4(COL1A1):c.3529G>A (p.Val1177Ile) rs41316719 0.00001
NM_000088.4(COL1A1):c.3565C>A (p.Pro1189Thr) rs1057518340 0.00001
NM_000088.4(COL1A1):c.3688G>A (p.Glu1230Lys) rs376564562 0.00001
NM_000088.4(COL1A1):c.3813T>A (p.Ser1271Arg) rs1341583755 0.00001
NM_000088.4(COL1A1):c.399C>T (p.Gly133=) rs775246452 0.00001
NM_000088.4(COL1A1):c.4040A>G (p.Asp1347Gly) rs772033648 0.00001
NM_000088.4(COL1A1):c.4174G>A (p.Gly1392Ser) rs377379528 0.00001
NM_000088.4(COL1A1):c.4192A>T (p.Ile1398Phe) rs754481870 0.00001
NM_000088.4(COL1A1):c.4195C>T (p.Arg1399Cys) rs762848021 0.00001
NM_000088.4(COL1A1):c.4258G>A (p.Gly1420Arg) rs139388334 0.00001
NM_000088.4(COL1A1):c.430C>T (p.Pro144Ser) rs908422422 0.00001
NM_000088.4(COL1A1):c.4319T>C (p.Ile1440Thr) rs757911214 0.00001
NM_000088.4(COL1A1):c.4373T>C (p.Val1458Ala) rs775026377 0.00001
NM_000088.4(COL1A1):c.471+6T>C rs1276599083 0.00001
NM_000088.4(COL1A1):c.497G>T (p.Gly166Val) rs372514953 0.00001
NM_000088.4(COL1A1):c.628G>A (p.Glu210Lys) rs766407680 0.00001
NM_000088.4(COL1A1):c.935G>A (p.Arg312His) rs930476771 0.00001
NM_000088.4(COL1A1):c.937C>T (p.Pro313Ser) rs1054020486 0.00001
NM_000088.4(COL1A1):c.964C>T (p.Arg322Cys) rs777644312 0.00001
NM_000088.4(COL1A1):c.983C>A (p.Thr328Asn) rs766151268 0.00001
NC_000017.10:g.(?_48262863)_(48278874_?)dup
NC_000017.10:g.(?_48264825)_(48278874_?)dup
NC_000017.10:g.(?_48265217)_(48278874_?)dup
NC_000017.11:g.(?_50190233)_(50190390_?)dup
NM_000088.4(COL1A1):c.1000C>T (p.Pro334Ser) rs1156650562
NM_000088.4(COL1A1):c.103+3_103+8del
NM_000088.4(COL1A1):c.1057-3C>G rs1555574180
NM_000088.4(COL1A1):c.1082G>A (p.Arg361Gln)
NM_000088.4(COL1A1):c.1092A>C (p.Glu364Asp) rs1907515907
NM_000088.4(COL1A1):c.1107_1108delinsAG (p.Arg370Gly) rs1907513580
NM_000088.4(COL1A1):c.1108C>T (p.Arg370Cys)
NM_000088.4(COL1A1):c.1109G>T (p.Arg370Leu)
NM_000088.4(COL1A1):c.110C>G (p.Pro37Arg) rs2144594835
NM_000088.4(COL1A1):c.1115A>G (p.Glu372Gly)
NM_000088.4(COL1A1):c.1145C>T (p.Ala382Val)
NM_000088.4(COL1A1):c.1199A>G (p.Asn400Ser)
NM_000088.4(COL1A1):c.1200+3A>G
NM_000088.4(COL1A1):c.1200+5G>C
NM_000088.4(COL1A1):c.1205C>T (p.Ala402Val)
NM_000088.4(COL1A1):c.1215T>G (p.Ile405Met)
NM_000088.4(COL1A1):c.121G>A (p.Val41Ile) rs2144594757
NM_000088.4(COL1A1):c.121G>T (p.Val41Leu) rs2144594757
NM_000088.4(COL1A1):c.1225C>G (p.Pro409Ala)
NM_000088.4(COL1A1):c.1240G>T (p.Ala414Ser) rs2144575819
NM_000088.4(COL1A1):c.1259C>T (p.Pro420Leu)
NM_000088.4(COL1A1):c.1289A>T (p.Lys430Met)
NM_000088.4(COL1A1):c.1290G>A (p.Lys430=)
NM_000088.4(COL1A1):c.1348G>C (p.Glu450Gln) rs896085870
NM_000088.4(COL1A1):c.1351C>G (p.Pro451Ala) rs1907454557
NM_000088.4(COL1A1):c.1353T>C (p.Pro451=)
NM_000088.4(COL1A1):c.1354-13C>A rs372034810
NM_000088.4(COL1A1):c.1378C>T (p.Pro460Ser) rs945417737
NM_000088.4(COL1A1):c.1387G>A (p.Ala463Thr) rs1555573895
NM_000088.4(COL1A1):c.1406G>A (p.Arg469Gln)
NM_000088.4(COL1A1):c.1424C>A (p.Pro475His)
NM_000088.4(COL1A1):c.1430C>A (p.Pro477His)
NM_000088.4(COL1A1):c.1430C>G (p.Pro477Arg)
NM_000088.4(COL1A1):c.1438C>G (p.Leu480Val)
NM_000088.4(COL1A1):c.143A>T (p.His48Leu)
NM_000088.4(COL1A1):c.1456G>A (p.Glu486Lys) rs1171968124
NM_000088.4(COL1A1):c.1460G>A (p.Arg487His) rs2144572836
NM_000088.4(COL1A1):c.1461+2dup
NM_000088.4(COL1A1):c.1462-3C>A rs2144572314
NM_000088.4(COL1A1):c.1478G>A (p.Arg493His)
NM_000088.4(COL1A1):c.1487C>T (p.Pro496Leu)
NM_000088.4(COL1A1):c.1511C>T (p.Pro504Leu)
NM_000088.4(COL1A1):c.1531C>T (p.Arg511Cys) rs1478682303
NM_000088.4(COL1A1):c.1532G>T (p.Arg511Leu)
NM_000088.4(COL1A1):c.1550C>G (p.Ala517Gly)
NM_000088.4(COL1A1):c.1550C>T (p.Ala517Val) rs1907378945
NM_000088.4(COL1A1):c.1556C>A (p.Pro519His)
NM_000088.4(COL1A1):c.1559A>G (p.Lys520Arg) rs2144571197
NM_000088.4(COL1A1):c.1567_1569del (p.Pro523del) rs1907377085
NM_000088.4(COL1A1):c.1582C>A (p.Arg528Ser)
NM_000088.4(COL1A1):c.1614G>C (p.Lys538Asn) rs770596593
NM_000088.4(COL1A1):c.1615-3T>C
NM_000088.4(COL1A1):c.1667C>T (p.Pro556Leu) rs778151591
NM_000088.4(COL1A1):c.1685A>G (p.Asp562Gly)
NM_000088.4(COL1A1):c.169C>T (p.Pro57Ser)
NM_000088.4(COL1A1):c.1728G>A (p.Gln576=) rs1410003274
NM_000088.4(COL1A1):c.1736T>C (p.Val579Ala)
NM_000088.4(COL1A1):c.1740G>A (p.Met580Ile)
NM_000088.4(COL1A1):c.1748C>G (p.Pro583Arg) rs1401682206
NM_000088.4(COL1A1):c.1756A>G (p.Lys586Glu) rs1321629414
NM_000088.4(COL1A1):c.1767+3_1767+6del rs886042301
NM_000088.4(COL1A1):c.176G>C (p.Arg59Pro) rs2144594400
NM_000088.4(COL1A1):c.178A>C (p.Ile60Leu)
NM_000088.4(COL1A1):c.179TCTGCG[3] (p.Cys63_Asp64insValCys)
NM_000088.4(COL1A1):c.1810C>G (p.Pro604Ala) rs868525869
NM_000088.4(COL1A1):c.1811C>T (p.Pro604Leu)
NM_000088.4(COL1A1):c.1821C>G (p.Val607=) rs41316667
NM_000088.4(COL1A1):c.1828G>T (p.Ala610Ser)
NM_000088.4(COL1A1):c.1897G>A (p.Glu633Lys) rs2144563826
NM_000088.4(COL1A1):c.1909G>C (p.Ala637Pro)
NM_000088.4(COL1A1):c.1910C>A (p.Ala637Asp)
NM_000088.4(COL1A1):c.1910C>G (p.Ala637Gly) rs886053161
NM_000088.4(COL1A1):c.1945G>A (p.Ala649Thr) rs2144563154
NM_000088.4(COL1A1):c.195C>A (p.Asn65Lys) rs1907930276
NM_000088.4(COL1A1):c.196G>A (p.Gly66Ser) rs1240249424
NM_000088.4(COL1A1):c.196G>T (p.Gly66Cys)
NM_000088.4(COL1A1):c.1983+2dup
NM_000088.4(COL1A1):c.2018C>A (p.Ser673Tyr) rs1263860713
NM_000088.4(COL1A1):c.2028+3_2028+20del rs2144561189
NM_000088.4(COL1A1):c.2087C>T (p.Pro696Leu)
NM_000088.4(COL1A1):c.2107C>G (p.Pro703Ala) rs1339321096
NM_000088.4(COL1A1):c.2127+3G>A
NM_000088.4(COL1A1):c.2128-15T>C
NM_000088.4(COL1A1):c.2140G>A (p.Ala714Thr)
NM_000088.4(COL1A1):c.2159G>A (p.Ser720Asn)
NM_000088.4(COL1A1):c.2159G>T (p.Ser720Ile)
NM_000088.4(COL1A1):c.2167G>T (p.Ala723Ser)
NM_000088.4(COL1A1):c.2180A>G (p.Gln727Arg)
NM_000088.4(COL1A1):c.2185A>G (p.Met729Val)
NM_000088.4(COL1A1):c.2203G>T (p.Ala735Ser) rs1555573014
NM_000088.4(COL1A1):c.2215C>G (p.Pro739Ala) rs1282743605
NM_000088.4(COL1A1):c.2235+5G>T rs1907061034
NM_000088.4(COL1A1):c.2236-3T>C
NM_000088.4(COL1A1):c.2249C>G (p.Pro750Arg)
NM_000088.4(COL1A1):c.224G>T (p.Cys75Phe)
NM_000088.4(COL1A1):c.2258C>T (p.Ala753Val)
NM_000088.4(COL1A1):c.228C>G (p.Asp76Glu) rs1314366641
NM_000088.4(COL1A1):c.22C>G (p.Arg8Gly)
NM_000088.4(COL1A1):c.22C>T (p.Arg8Trp)
NM_000088.4(COL1A1):c.2305A>T (p.Ile769Phe) rs2144556397
NM_000088.4(COL1A1):c.2321C>T (p.Pro774Leu)
NM_000088.4(COL1A1):c.2344-3C>A
NM_000088.4(COL1A1):c.2386C>T (p.Arg796Cys) rs751890158
NM_000088.4(COL1A1):c.2396C>T (p.Pro799Leu)
NM_000088.4(COL1A1):c.2422C>A (p.Pro808Thr) rs1215940390
NM_000088.4(COL1A1):c.2428C>T (p.Pro810Ser) rs1555572744
NM_000088.4(COL1A1):c.2449C>A (p.Pro817Thr) rs769167761
NM_000088.4(COL1A1):c.2449C>T (p.Pro817Ser)
NM_000088.4(COL1A1):c.2451+6T>A
NM_000088.4(COL1A1):c.2468C>T (p.Pro823Leu)
NM_000088.4(COL1A1):c.2482G>A (p.Glu828Lys)
NM_000088.4(COL1A1):c.2491G>A (p.Asp831Asn)
NM_000088.4(COL1A1):c.2501C>T (p.Ala834Val)
NM_000088.4(COL1A1):c.2512G>T (p.Ala838Ser)
NM_000088.4(COL1A1):c.2537C>T (p.Pro846Leu)
NM_000088.4(COL1A1):c.254_255insGGC (p.Glu85_Val86insAla)
NM_000088.4(COL1A1):c.2558T>C (p.Ile853Thr) rs2144552753
NM_000088.4(COL1A1):c.2559+5G>A rs72653138
NM_000088.4(COL1A1):c.2559T>A (p.Ile853=) rs764910205
NM_000088.4(COL1A1):c.2560-19_2560-18delinsTG
NM_000088.4(COL1A1):c.2573C>G (p.Ala858Gly) rs550053089
NM_000088.4(COL1A1):c.260C>T (p.Pro87Leu) rs926503489
NM_000088.4(COL1A1):c.2629C>T (p.Pro877Ser) rs2144551585
NM_000088.4(COL1A1):c.2667+5G>A
NM_000088.4(COL1A1):c.2680C>T (p.Pro894Ser)
NM_000088.4(COL1A1):c.272G>A (p.Cys91Tyr)
NM_000088.4(COL1A1):c.2746G>C (p.Ala916Pro)
NM_000088.4(COL1A1):c.2773C>T (p.Pro925Ser) rs772929903
NM_000088.4(COL1A1):c.278C>G (p.Pro93Arg)
NM_000088.4(COL1A1):c.2797G>A (p.Glu933Lys) rs1906865517
NM_000088.4(COL1A1):c.2806T>C (p.Ser936Pro) rs1555572452
NM_000088.4(COL1A1):c.2810C>A (p.Pro937His) rs1555572447
NM_000088.4(COL1A1):c.2829+2dup rs2144549833
NM_000088.4(COL1A1):c.2845C>G (p.Pro949Ala)
NM_000088.4(COL1A1):c.2855A>G (p.Gln952Arg)
NM_000088.4(COL1A1):c.2906A>G (p.Glu969Gly)
NM_000088.4(COL1A1):c.290A>G (p.Asp97Gly) rs758351823
NM_000088.4(COL1A1):c.2917C>T (p.Pro973Ser)
NM_000088.4(COL1A1):c.2933C>T (p.Pro978Leu) rs2144548775
NM_000088.4(COL1A1):c.2953C>A (p.Gln985Lys)
NM_000088.4(COL1A1):c.2980C>T (p.Arg994Cys)
NM_000088.4(COL1A1):c.2989C>T (p.Pro997Ser)
NM_000088.4(COL1A1):c.299-3T>G rs1598301620
NM_000088.4(COL1A1):c.299-4C>A
NM_000088.4(COL1A1):c.29T>C (p.Leu10Pro)
NM_000088.4(COL1A1):c.3023C>G (p.Pro1008Arg) rs1484351533
NM_000088.4(COL1A1):c.3026C>T (p.Pro1009Leu)
NM_000088.4(COL1A1):c.3077G>A (p.Arg1026Gln)
NM_000088.4(COL1A1):c.3100-10T>A rs1598288122
NM_000088.4(COL1A1):c.3100-6C>A
NM_000088.4(COL1A1):c.3107G>A (p.Arg1036His)
NM_000088.4(COL1A1):c.310G>A (p.Asp104Asn)
NM_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu) rs1906769403
NM_000088.4(COL1A1):c.3152C>T (p.Pro1051Leu) rs2144545694
NM_000088.4(COL1A1):c.3161C>T (p.Pro1054Leu)
NM_000088.4(COL1A1):c.3183C>T (p.Gly1061=) rs1598287862
NM_000088.4(COL1A1):c.319ACC[1] (p.Thr108del)
NM_000088.4(COL1A1):c.3207+4A>T rs2144545163
NM_000088.4(COL1A1):c.3223G>C (p.Ala1075Pro)
NM_000088.4(COL1A1):c.3223G>T (p.Ala1075Ser)
NM_000088.4(COL1A1):c.3233T>A (p.Val1078Asp)
NM_000088.4(COL1A1):c.3238C>T (p.Pro1080Ser)
NM_000088.4(COL1A1):c.3238_3246dup (p.Gly1082_Ala1083insProValGly)
NM_000088.4(COL1A1):c.3250C>T (p.Arg1084Cys)
NM_000088.4(COL1A1):c.3251G>T (p.Arg1084Leu)
NM_000088.4(COL1A1):c.3256C>T (p.Pro1086Ser)
NM_000088.4(COL1A1):c.325G>A (p.Gly109Ser) rs762315953
NM_000088.4(COL1A1):c.3261+2dup rs1598287275
NM_000088.4(COL1A1):c.3261C>T (p.Ala1087=)
NM_000088.4(COL1A1):c.3269A>C (p.Gln1090Pro) rs1906705094
NM_000088.4(COL1A1):c.3275C>T (p.Pro1092Leu)
NM_000088.4(COL1A1):c.3301G>A (p.Glu1101Lys)
NM_000088.4(COL1A1):c.3313A>G (p.Arg1105Gly) rs1555572101
NM_000088.4(COL1A1):c.3319A>T (p.Ile1107Leu)
NM_000088.4(COL1A1):c.333+3A>C rs1555575205
NM_000088.4(COL1A1):c.3330C>A (p.His1110Gln)
NM_000088.4(COL1A1):c.3331C>T (p.Arg1111Cys) rs2144542395
NM_000088.4(COL1A1):c.3332G>A (p.Arg1111His)
NM_000088.4(COL1A1):c.3365C>G (p.Pro1122Arg)
NM_000088.4(COL1A1):c.3369+4A>G rs2144542173
NM_000088.4(COL1A1):c.3369+4_3369+7del
NM_000088.4(COL1A1):c.3370-12_3370-11insAG
NM_000088.4(COL1A1):c.3419C>T (p.Pro1140Leu) rs2144540571
NM_000088.4(COL1A1):c.3424-6C>G rs370865189
NM_000088.4(COL1A1):c.3445G>T (p.Ala1149Ser)
NM_000088.4(COL1A1):c.3459T>G (p.Asp1153Glu) rs1800218
NM_000088.4(COL1A1):c.345A>T (p.Gly115=) rs1907874908
NM_000088.4(COL1A1):c.347A>G (p.Asp116Gly) rs1907874708
NM_000088.4(COL1A1):c.3481C>A (p.Pro1161Thr)
NM_000088.4(COL1A1):c.3490C>A (p.Pro1164Thr)
NM_000088.4(COL1A1):c.3491C>A (p.Pro1164His)
NM_000088.4(COL1A1):c.3491C>T (p.Pro1164Leu)
NM_000088.4(COL1A1):c.3508C>T (p.Arg1170Cys) rs1373318649
NM_000088.4(COL1A1):c.3531+3A>T rs1906604888
NM_000088.4(COL1A1):c.3531+6T>C
NM_000088.4(COL1A1):c.3545C>A (p.Pro1182His)
NM_000088.4(COL1A1):c.3566C>A (p.Pro1189His) rs1555571859
NM_000088.4(COL1A1):c.3578G>A (p.Ser1193Asn) rs1567753025
NM_000088.4(COL1A1):c.35T>C (p.Leu12Pro) rs1555575857
NM_000088.4(COL1A1):c.3610C>A (p.Pro1204Thr) rs983970706
NM_000088.4(COL1A1):c.3640C>T (p.Arg1214Cys) rs2144537191
NM_000088.4(COL1A1):c.3649C>T (p.Arg1217Trp) rs763727068
NM_000088.4(COL1A1):c.3658G>A (p.Asp1220Asn)
NM_000088.4(COL1A1):c.3661G>A (p.Ala1221Thr)
NM_000088.4(COL1A1):c.3664A>G (p.Asn1222Asp)
NM_000088.4(COL1A1):c.3679C>T (p.Arg1227Cys)
NM_000088.4(COL1A1):c.367A>G (p.Arg123Gly) rs1907872277
NM_000088.4(COL1A1):c.3701C>T (p.Thr1234Ile)
NM_000088.4(COL1A1):c.3754C>A (p.Arg1252Ser) rs781614679
NM_000088.4(COL1A1):c.3755G>T (p.Arg1252Leu)
NM_000088.4(COL1A1):c.3766G>T (p.Ala1256Ser)
NM_000088.4(COL1A1):c.3770G>A (p.Arg1257His)
NM_000088.4(COL1A1):c.3798C>G (p.His1266Gln)
NM_000088.4(COL1A1):c.3802G>A (p.Asp1268Asn) rs1598285285
NM_000088.4(COL1A1):c.3812G>T (p.Ser1271Ile)
NM_000088.4(COL1A1):c.3815G>A (p.Gly1272Glu)
NM_000088.4(COL1A1):c.3832C>T (p.Pro1278Ser)
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser) rs761672800
NM_000088.4(COL1A1):c.3878T>C (p.Met1293Thr)
NM_000088.4(COL1A1):c.3883A>T (p.Thr1295Ser)
NM_000088.4(COL1A1):c.3887G>T (p.Gly1296Val) rs1906529531
NM_000088.4(COL1A1):c.3895T>A (p.Cys1299Ser) rs1567752383
NM_000088.4(COL1A1):c.3898G>A (p.Val1300Met)
NM_000088.4(COL1A1):c.3917G>C (p.Ser1306Thr) rs754753032
NM_000088.4(COL1A1):c.3952C>G (p.Pro1318Ala)
NM_000088.4(COL1A1):c.3952_3954del (p.Pro1318del) rs1451296434
NM_000088.4(COL1A1):c.3963G>C (p.Lys1321Asn) rs764729498
NM_000088.4(COL1A1):c.3965G>C (p.Arg1322Thr) rs138544681
NM_000088.4(COL1A1):c.3988A>G (p.Met1330Val)
NM_000088.4(COL1A1):c.4005+4C>T rs528349466
NM_000088.4(COL1A1):c.4030G>C (p.Asp1344His) rs371547661
NM_000088.4(COL1A1):c.4046C>A (p.Ala1349Asp)
NM_000088.4(COL1A1):c.4050C>G (p.Ile1350Met)
NM_000088.4(COL1A1):c.4054C>G (p.Leu1352Val) rs1906478020
NM_000088.4(COL1A1):c.4058C>T (p.Thr1353Ile)
NM_000088.4(COL1A1):c.4061T>G (p.Phe1354Cys)
NM_000088.4(COL1A1):c.4066C>A (p.Arg1356Ser) rs1341595487
NM_000088.4(COL1A1):c.4081G>A (p.Glu1361Lys) rs141011435
NM_000088.4(COL1A1):c.4148A>G (p.Asn1383Ser) rs1555571631
NM_000088.4(COL1A1):c.4177T>A (p.Ser1393Thr)
NM_000088.4(COL1A1):c.4178C>T (p.Ser1393Phe) rs774210351
NM_000088.4(COL1A1):c.4191G>T (p.Glu1397Asp)
NM_000088.4(COL1A1):c.419_420delinsCC (p.Leu140Pro) rs1555575068
NM_000088.4(COL1A1):c.4226G>T (p.Ser1409Ile) rs1906453973
NM_000088.4(COL1A1):c.4239T>A (p.Asp1413Glu) rs754555549
NM_000088.4(COL1A1):c.4241G>T (p.Gly1414Val)
NM_000088.4(COL1A1):c.4247C>T (p.Thr1416Met) rs1906450804
NM_000088.4(COL1A1):c.4248+3G>A
NM_000088.4(COL1A1):c.4248+6T>C
NM_000088.4(COL1A1):c.424G>A (p.Gly142Arg) rs1567764128
NM_000088.4(COL1A1):c.4253A>G (p.His1418Arg)
NM_000088.4(COL1A1):c.4285T>C (p.Tyr1429His)
NM_000088.4(COL1A1):c.429CCCCGGACC[1] (p.143PPG[3]) rs769867566
NM_000088.4(COL1A1):c.4317C>G (p.Ile1439Met)
NM_000088.4(COL1A1):c.4320C>G (p.Ile1440Met) rs770326881
NM_000088.4(COL1A1):c.4323T>A (p.Asp1441Glu)
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val) rs1131692326
NM_000088.4(COL1A1):c.432_458del (p.143PPG[1]) rs2144590892
NM_000088.4(COL1A1):c.4334T>C (p.Leu1445Ser)
NM_000088.4(COL1A1):c.433G>A (p.Gly145Arg) rs1907850821
NM_000088.4(COL1A1):c.4340T>G (p.Val1447Gly) rs972891143
NM_000088.4(COL1A1):c.4356_4359dup (p.Phe1454fs)
NM_000088.4(COL1A1):c.4363G>A (p.Gly1455Ser)
NM_000088.4(COL1A1):c.4367T>G (p.Phe1456Cys)
NM_000088.4(COL1A1):c.4368C>G (p.Phe1456Leu) rs765224053
NM_000088.4(COL1A1):c.4369G>C (p.Asp1457His)
NM_000088.4(COL1A1):c.436C>G (p.Pro146Ala) rs756846639
NM_000088.4(COL1A1):c.439C>T (p.Pro147Ser)
NM_000088.4(COL1A1):c.441_458del (p.143PPG[2]) rs1315804923
NM_000088.4(COL1A1):c.441_458dup (p.Gly154_Leu155insProProGlyProProGly)
NM_000088.4(COL1A1):c.447TCCCGGACC[3] (p.143PPG[6]) rs1333144999
NM_000088.4(COL1A1):c.447_455del (p.143PPG[3])
NM_000088.4(COL1A1):c.451G>A (p.Gly151Arg)
NM_000088.4(COL1A1):c.454C>A (p.Pro152Thr) rs1221734311
NM_000088.4(COL1A1):c.457C>T (p.Pro153Ser)
NM_000088.4(COL1A1):c.466G>A (p.Gly156Arg)
NM_000088.4(COL1A1):c.488T>C (p.Leu163Pro)
NM_000088.4(COL1A1):c.504T>A (p.Asp168Glu)
NM_000088.4(COL1A1):c.517G>A (p.Gly173Arg)
NM_000088.4(COL1A1):c.521G>A (p.Gly174Glu)
NM_000088.4(COL1A1):c.530T>C (p.Val177Ala)
NM_000088.4(COL1A1):c.543+15G>A
NM_000088.4(COL1A1):c.543+4A>G rs1555574855
NM_000088.4(COL1A1):c.543+5G>C rs1907787005
NM_000088.4(COL1A1):c.551C>T (p.Ser184Phe)
NM_000088.4(COL1A1):c.557C>T (p.Pro186Leu) rs1555574809
NM_000088.4(COL1A1):c.577C>G (p.Pro193Ala) rs2144587738
NM_000088.4(COL1A1):c.588+5G>C
NM_000088.4(COL1A1):c.588+7A>T
NM_000088.4(COL1A1):c.650T>C (p.Met217Thr) rs2144586081
NM_000088.4(COL1A1):c.656C>G (p.Pro219Arg)
NM_000088.4(COL1A1):c.668C>G (p.Pro223Arg) rs2144585941
NM_000088.4(COL1A1):c.694G>C (p.Asp232His)
NM_000088.4(COL1A1):c.696+3A>G
NM_000088.4(COL1A1):c.696+5G>A
NM_000088.4(COL1A1):c.696+5del
NM_000088.4(COL1A1):c.73G>A (p.Glu25Lys)
NM_000088.4(COL1A1):c.76G>A (p.Gly26Ser) rs2144600278
NM_000088.4(COL1A1):c.78C>T (p.Gly26=) rs2144600259
NM_000088.4(COL1A1):c.952C>T (p.Pro318Ser) rs1273349782
NM_000088.4(COL1A1):c.953C>G (p.Pro318Arg)
NM_000088.4(COL1A1):c.974A>G (p.Asp325Gly) rs2144579945
NM_000088.4(COL1A1):c.992C>A (p.Ala331Asp) rs762653813
NM_000088.4(COL1A1):c.992C>T (p.Ala331Val) rs762653813
NM_000088.4(COL1A1):c.9C>G (p.Ser3Arg)

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