ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 631
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser) rs66664580 0.00001
NM_000088.4(COL1A1):c.1354-12G>A rs72648337 0.00001
NM_000088.4(COL1A1):c.2032G>A (p.Glu678Lys) rs1213427451 0.00001
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642 0.00001
NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser) rs72651658 0.00001
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170 0.00001
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter) rs72656314 0.00001
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val) rs918420911 0.00001
NM_000088.4(COL1A1):c.4335_4336del (p.Asp1446fs) rs1906423537 0.00001
NC_000017.10:g.(?_48262945)_(48267306_?)del
NC_000017.10:g.(?_48263658)_(48270428_?)del
NC_000017.10:g.(?_48266109)_(48266435_?)del
NC_000017.10:g.(?_48267020)_(48278874_?)dup
NC_000017.10:g.(?_48267381)_(48276680_?)dup
NC_000017.10:g.(?_48272388)_(48277328_?)del
NC_000017.10:g.(?_48272388)_(48278874_?)del
NC_000017.11:g.(?_50185482)_(50192870_?)del
NC_000017.11:g.(?_50194701)_(50203629_?)del
NC_000017.11:g.50186508del rs2144535299
NC_000017.11:g.50187123dup
NC_000017.11:g.50189539del
NC_000017.11:g.50190597del
NC_000017.11:g.50193048del
NC_000017.11:g.50194829del rs1165573890
NM_000088.3(COL1A1):c.1985del rs1907143600
NM_000088.3(COL1A1):c.2783_2788delinsTGGCG (p.Pro928fs) rs1555572456
NM_000088.3(COL1A1):c.3124_3160del (p.Ala1042fs) rs1567754589
NM_000088.3(COL1A1):c.3815_3819delGAGAG rs1598285125
NM_000088.3(COL1A1):c.563_564delinsA (p.Gly188fs) rs1555574802
NM_000088.4(COL1A1):c.1001del (p.Pro334fs) rs150572711
NM_000088.4(COL1A1):c.1002+2T>C rs786205507
NM_000088.4(COL1A1):c.1002+3G>C
NM_000088.4(COL1A1):c.1003-1G>A rs72645361
NM_000088.4(COL1A1):c.1003G>A (p.Gly335Ser) rs2144579011
NM_000088.4(COL1A1):c.1005_1013del (p.Thr337_Pro339del)
NM_000088.4(COL1A1):c.1017del (p.Ala340fs) rs2144578905
NM_000088.4(COL1A1):c.1018del (p.Ala340fs) rs2144578888
NM_000088.4(COL1A1):c.1023_1024dup (p.Pro342fs)
NM_000088.4(COL1A1):c.103+2T>C rs1908083033
NM_000088.4(COL1A1):c.104-2A>G rs2144594870
NM_000088.4(COL1A1):c.1042_1043dup (p.Val349fs) rs1907543361
NM_000088.4(COL1A1):c.1056+1G>A
NM_000088.4(COL1A1):c.1056+2T>C
NM_000088.4(COL1A1):c.1057-1G>A rs1555574177
NM_000088.4(COL1A1):c.1057-1G>C
NM_000088.4(COL1A1):c.1057-2A>C
NM_000088.4(COL1A1):c.1057-2A>T rs66511271
NM_000088.4(COL1A1):c.1057G>C (p.Gly353Arg)
NM_000088.4(COL1A1):c.1057G>T (p.Gly353Cys) rs66721653
NM_000088.4(COL1A1):c.1065_1078del (p.Gly356fs) rs2144577718
NM_000088.4(COL1A1):c.1066G>T (p.Gly356Cys) rs72645365
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter) rs72645366
NM_000088.4(COL1A1):c.1086_1102del (p.Ser363fs) rs1555574154
NM_000088.4(COL1A1):c.108del (p.Pro37fs)
NM_000088.4(COL1A1):c.1099C>T (p.Gln367Ter) rs1555574158
NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala) rs1555574151
NM_000088.4(COL1A1):c.1111G>A (p.Gly371Ser) rs72645368
NM_000088.4(COL1A1):c.111_117del (p.Ile38fs) rs1114167384
NM_000088.4(COL1A1):c.1121G>C (p.Gly374Ala) rs1555574143
NM_000088.4(COL1A1):c.1121del (p.Gly374fs) rs1555574144
NM_000088.4(COL1A1):c.1127del (p.Pro376fs) rs72645369
NM_000088.4(COL1A1):c.1127dup (p.Gly377fs) rs72645369
NM_000088.4(COL1A1):c.1128del (p.Gly377fs) rs72645370
NM_000088.4(COL1A1):c.1138G>A (p.Gly380Ser) rs72648313
NM_000088.4(COL1A1):c.1139G>C (p.Gly380Ala) rs72648314
NM_000088.4(COL1A1):c.1148G>C (p.Gly383Ala)
NM_000088.4(COL1A1):c.1155+1G>C rs72648315
NM_000088.4(COL1A1):c.1155+1G>T rs72648315
NM_000088.4(COL1A1):c.1176_1179dup (p.Pro394fs)
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter) rs2144576822
NM_000088.4(COL1A1):c.1178_1179insCCTTTA (p.Gln393delinsHisLeuTer) rs2144576816
NM_000088.4(COL1A1):c.1179dup (p.Pro394fs)
NM_000088.4(COL1A1):c.1184G>C (p.Gly395Ala)
NM_000088.4(COL1A1):c.1192G>T (p.Gly398Cys) rs72648319
NM_000088.4(COL1A1):c.1192_1199del (p.Gly398fs) rs1567760736
NM_000088.4(COL1A1):c.1200+1G>A rs72648320
NM_000088.4(COL1A1):c.1200+2T>A rs2144576668
NM_000088.4(COL1A1):c.1201-1G>A rs72648321
NM_000088.4(COL1A1):c.1201G>A (p.Gly401Ser) rs72648322
NM_000088.4(COL1A1):c.120C>A (p.Cys40Ter) rs762780039
NM_000088.4(COL1A1):c.1211dup (p.Ile405fs) rs2144575934
NM_000088.4(COL1A1):c.1213del (p.Ile405fs)
NM_000088.4(COL1A1):c.1228G>A (p.Gly410Ser)
NM_000088.4(COL1A1):c.1238G>C (p.Gly413Ala) rs72648325
NM_000088.4(COL1A1):c.1238del (p.Gly413fs)
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.4(COL1A1):c.1247G>A (p.Gly416Asp) rs1135401953
NM_000088.4(COL1A1):c.1247del (p.Gly416fs) rs1555574071
NM_000088.4(COL1A1):c.124C>T (p.Gln42Ter)
NM_000088.4(COL1A1):c.1261C>T (p.Gln421Ter) rs1598296825
NM_000088.4(COL1A1):c.1261del (p.Gln421fs) rs1114167385
NM_000088.4(COL1A1):c.1269del (p.Gly424fs) rs1114167374
NM_000088.4(COL1A1):c.1269dup (p.Gly424fs) rs1114167374
NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser) rs72648330
NM_000088.4(COL1A1):c.1284_1291dup (p.Gly431fs) rs2144575412
NM_000088.4(COL1A1):c.1292del (p.Gly431fs) rs1114167375
NM_000088.4(COL1A1):c.1299+1G>A rs66490707
NM_000088.4(COL1A1):c.1299+1G>C rs66490707
NM_000088.4(COL1A1):c.1299+5G>A rs193922139
NM_000088.4(COL1A1):c.1300-1G>A
NM_000088.4(COL1A1):c.1305del (p.Glu435fs) rs1907457376
NM_000088.4(COL1A1):c.1310G>C (p.Gly437Ala)
NM_000088.4(COL1A1):c.1335_1336del (p.Gly446fs) rs1907456419
NM_000088.4(COL1A1):c.1353+2T>C
NM_000088.4(COL1A1):c.1369C>T (p.Gln457Ter) rs1228746935
NM_000088.4(COL1A1):c.1372G>T (p.Gly458Ter)
NM_000088.4(COL1A1):c.1379del (p.Pro460fs) rs1114167377
NM_000088.4(COL1A1):c.1380del (p.Gly461fs)
NM_000088.4(COL1A1):c.1382del (p.Gly461fs) rs1555573897
NM_000088.4(COL1A1):c.138del (p.Arg46fs) rs2144594663
NM_000088.4(COL1A1):c.1393G>T (p.Glu465Ter) rs865999256
NM_000088.4(COL1A1):c.1394del (p.Glu465fs) rs1567760123
NM_000088.4(COL1A1):c.1398_1410del (p.Gly467fs) rs2144573246
NM_000088.4(COL1A1):c.1400G>C (p.Gly467Ala)
NM_000088.4(COL1A1):c.1405C>T (p.Arg469Ter) rs762428889
NM_000088.4(COL1A1):c.1414C>T (p.Arg472Ter) rs72648343
NM_000088.4(COL1A1):c.1425dup (p.Gly476fs)
NM_000088.4(COL1A1):c.1426_1427dup (p.Pro477fs) rs2144573120
NM_000088.4(COL1A1):c.1438del (p.Leu480fs)
NM_000088.4(COL1A1):c.1444G>C (p.Gly482Arg)
NM_000088.4(COL1A1):c.1451del (p.Pro484fs) rs2144572928
NM_000088.4(COL1A1):c.1451dup (p.Gly485fs)
NM_000088.4(COL1A1):c.1452del (p.Gly485fs) rs72648346
NM_000088.4(COL1A1):c.1454G>C (p.Gly485Ala) rs1907418203
NM_000088.4(COL1A1):c.1456G>T (p.Glu486Ter)
NM_000088.4(COL1A1):c.1461+1G>A
NM_000088.4(COL1A1):c.1461+1G>T
NM_000088.4(COL1A1):c.1461+2T>G rs1907417140
NM_000088.4(COL1A1):c.1462-47_1462-18del
NM_000088.4(COL1A1):c.1465G>T (p.Gly489Ter) rs138570309
NM_000088.4(COL1A1):c.146_147del (p.Asp49fs) rs2144594577
NM_000088.4(COL1A1):c.1471G>A (p.Gly491Ser) rs72648348
NM_000088.4(COL1A1):c.14del (p.Val5fs) rs2144600691
NM_000088.4(COL1A1):c.1508G>C (p.Gly503Ala)
NM_000088.4(COL1A1):c.1516-1G>A rs72648352
NM_000088.4(COL1A1):c.154_163del (p.Val52fs) rs2144594472
NM_000088.4(COL1A1):c.1557del (p.Gly521fs)
NM_000088.4(COL1A1):c.1562del (p.Gly521fs) rs1907377731
NM_000088.4(COL1A1):c.1588G>A (p.Gly530Ser) rs67682641
NM_000088.4(COL1A1):c.1588G>T (p.Gly530Cys) rs67682641
NM_000088.4(COL1A1):c.158G>A (p.Trp53Ter)
NM_000088.4(COL1A1):c.159G>A (p.Trp53Ter)
NM_000088.4(COL1A1):c.1605_1611del (p.Gly536fs)
NM_000088.4(COL1A1):c.1611del (p.Lys538fs) rs1114167387
NM_000088.4(COL1A1):c.1614+1G>A rs72648357
NM_000088.4(COL1A1):c.1614+1G>C rs72648357
NM_000088.4(COL1A1):c.1614+2T>A rs1598295482
NM_000088.4(COL1A1):c.1615-1G>A
NM_000088.4(COL1A1):c.1654A>T (p.Lys552Ter) rs1567759402
NM_000088.4(COL1A1):c.1667del (p.Pro556fs) rs1351742344
NM_000088.4(COL1A1):c.1667dup (p.Gly557fs) rs1351742344
NM_000088.4(COL1A1):c.1668del (p.Gly557fs) rs72648360
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser) rs67507747
NM_000088.4(COL1A1):c.1678G>T (p.Gly560Cys) rs67507747
NM_000088.4(COL1A1):c.1695del (p.Gly566fs)
NM_000088.4(COL1A1):c.1703del (p.Pro568fs) rs1555573629
NM_000088.4(COL1A1):c.1713_1720del (p.Gly572fs) rs1907332311
NM_000088.4(COL1A1):c.1720del (p.Arg574fs) rs1555573621
NM_000088.4(COL1A1):c.1767+1G>A rs2144569036
NM_000088.4(COL1A1):c.1768-1G>A rs72648370
NM_000088.4(COL1A1):c.1772_1773del (p.Glu591fs) rs1555573484
NM_000088.4(COL1A1):c.1778G>C (p.Gly593Ala) rs72651613
NM_000088.4(COL1A1):c.177_178dup (p.Ile60fs)
NM_000088.4(COL1A1):c.177del (p.Ile60fs)
NM_000088.4(COL1A1):c.1783del (p.Ala595fs)
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter) rs72651614
NM_000088.4(COL1A1):c.1797del (p.Val600fs) rs2144565641
NM_000088.4(COL1A1):c.1804G>T (p.Gly602Ter) rs72651615
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000088.4(COL1A1):c.1821+1G>C rs66555264
NM_000088.4(COL1A1):c.1821+1G>T rs66555264
NM_000088.4(COL1A1):c.1821del (p.Gly608fs) rs2144565471
NM_000088.4(COL1A1):c.1822-1G>A
NM_000088.4(COL1A1):c.183C>G (p.Cys61Trp) rs755126464
NM_000088.4(COL1A1):c.1847del (p.Ala616fs) rs2144564620
NM_000088.4(COL1A1):c.1853_1857del (p.Ala618fs) rs1907212702
NM_000088.4(COL1A1):c.1860del (p.Pro622fs) rs2144564549
NM_000088.4(COL1A1):c.1862_1865del (p.Pro621fs) rs72651620
NM_000088.4(COL1A1):c.1865dup (p.Gly623fs) rs72651620
NM_000088.4(COL1A1):c.1866del (p.Gly623fs)
NM_000088.4(COL1A1):c.1871del (p.Pro624fs)
NM_000088.4(COL1A1):c.1875+5G>C rs886041866
NM_000088.4(COL1A1):c.1876-1G>A
NM_000088.4(COL1A1):c.1876-2A>G rs67891210
NM_000088.4(COL1A1):c.1876G>A (p.Gly626Ser)
NM_000088.4(COL1A1):c.1882_1886dup (p.Glu630fs)
NM_000088.4(COL1A1):c.1886del (p.Gly629fs) rs66489346
NM_000088.4(COL1A1):c.1893_1894del (p.Arg631_Gly632insTer) rs2144563856
NM_000088.4(COL1A1):c.189C>A (p.Cys63Ter)
NM_000088.4(COL1A1):c.1920del (p.Gly641fs) rs2144563732
NM_000088.4(COL1A1):c.1921G>A (p.Gly641Arg) rs2144563717
NM_000088.4(COL1A1):c.1922G>C (p.Gly641Ala) rs1598293646
NM_000088.4(COL1A1):c.1925del (p.Phe642fs)
NM_000088.4(COL1A1):c.1929+1G>A rs1555573313
NM_000088.4(COL1A1):c.1930-1G>A rs1555573288
NM_000088.4(COL1A1):c.1930-2A>G rs2144563277
NM_000088.4(COL1A1):c.1958del (p.Gly653fs)
NM_000088.4(COL1A1):c.1978G>T (p.Glu660Ter)
NM_000088.4(COL1A1):c.197_293del (p.Gly66fs)
NM_000088.4(COL1A1):c.1981C>T (p.Gln661Ter) rs72651631
NM_000088.4(COL1A1):c.1983+1G>C
NM_000088.4(COL1A1):c.1984-1G>A rs2144561474
NM_000088.4(COL1A1):c.1984-2A>G
NM_000088.4(COL1A1):c.1984-2A>T rs72651632
NM_000088.4(COL1A1):c.1A>C (p.Met1Leu) rs1555575889
NM_000088.4(COL1A1):c.1A>G (p.Met1Val) rs1555575889
NM_000088.4(COL1A1):c.1A>T (p.Met1Leu)
NM_000088.4(COL1A1):c.2009dup (p.Gly671fs)
NM_000088.4(COL1A1):c.2010del (p.Gly671fs) rs72651634
NM_000088.4(COL1A1):c.2020G>T (p.Gly674Ter)
NM_000088.4(COL1A1):c.2026A>T (p.Arg676Ter) rs2144561250
NM_000088.4(COL1A1):c.2028+2T>A
NM_000088.4(COL1A1):c.2028+2T>G rs72651635
NM_000088.4(COL1A1):c.2039del (p.Gly680fs)
NM_000088.4(COL1A1):c.2058_2062del (p.Val687fs) rs1907110994
NM_000088.4(COL1A1):c.2072del (p.Pro691fs) rs72651639
NM_000088.4(COL1A1):c.2073del (p.Gly692fs) rs72651640
NM_000088.4(COL1A1):c.2084del (p.Gly695fs) rs72651641
NM_000088.4(COL1A1):c.2085del (p.Arg697fs) rs2144560315
NM_000088.4(COL1A1):c.2089del (p.Arg697fs)
NM_000088.4(COL1A1):c.2091_2092del (p.Ala699fs) rs1114167389
NM_000088.4(COL1A1):c.2095_2102del (p.Ala699fs) rs2144560147
NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser) rs68114505
NM_000088.4(COL1A1):c.210C>A (p.Cys70Ter) rs2144594178
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) rs67368147
NM_000088.4(COL1A1):c.2127+1G>A rs1181095991
NM_000088.4(COL1A1):c.2127+2T>A rs72651644
NM_000088.4(COL1A1):c.2128-1G>A rs67543897
NM_000088.4(COL1A1):c.2128-1G>C rs67543897
NM_000088.4(COL1A1):c.2128-1G>T rs67543897
NM_000088.4(COL1A1):c.212dup (p.Asp71fs) rs1567764832
NM_000088.4(COL1A1):c.2139del (p.Ala714fs) rs1555573039
NM_000088.4(COL1A1):c.2144del (p.Pro715fs)
NM_000088.4(COL1A1):c.2151_2154dup (p.Gly719fs) rs2144558735
NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser) rs72651645
NM_000088.4(COL1A1):c.2155G>T (p.Gly719Cys) rs72651645
NM_000088.4(COL1A1):c.2159del (p.Ser720fs) rs2144558687
NM_000088.4(COL1A1):c.2165del (p.Gly722fs)
NM_000088.4(COL1A1):c.2172del (p.Gly725fs) rs1567757138
NM_000088.4(COL1A1):c.2179C>T (p.Gln727Ter)
NM_000088.4(COL1A1):c.2182G>T (p.Gly728Ter) rs72651648
NM_000088.4(COL1A1):c.2182_2188del (p.Gly728fs)
NM_000088.4(COL1A1):c.2200G>A (p.Gly734Ser) rs2144558383
NM_000088.4(COL1A1):c.2217del (p.Pro741fs) rs1555573004
NM_000088.4(COL1A1):c.2235+1G>C rs1114167390
NM_000088.4(COL1A1):c.2236-1G>C rs1907020116
NM_000088.4(COL1A1):c.2239_2240insGATAGG (p.Asp747delinsGlyTer)
NM_000088.4(COL1A1):c.2245G>A (p.Gly749Ser)
NM_000088.4(COL1A1):c.2253del (p.Gly752fs) rs1598291438
NM_000088.4(COL1A1):c.2289del (p.Gly764fs) rs2144556507
NM_000088.4(COL1A1):c.2293_2306del (p.Leu765fs)
NM_000088.4(COL1A1):c.229G>T (p.Glu77Ter) rs753683126
NM_000088.4(COL1A1):c.2304dup (p.Ile769fs)
NM_000088.4(COL1A1):c.2333del (p.Pro778fs)
NM_000088.4(COL1A1):c.2334del (p.Gly779fs)
NM_000088.4(COL1A1):c.2343+1G>A rs1114167378
NM_000088.4(COL1A1):c.2344-1G>A rs1567756567
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.4(COL1A1):c.2372G>C (p.Gly791Ala)
NM_000088.4(COL1A1):c.2397del (p.Gly800fs) rs1906989648
NM_000088.4(COL1A1):c.2398-1G>C rs193922147
NM_000088.4(COL1A1):c.2398-1G>T
NM_000088.4(COL1A1):c.2400_2409delinsGAAAGGGGAAGAGGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGA (p.Asp801fs) rs2144554620
NM_000088.4(COL1A1):c.2407G>A (p.Gly803Ser)
NM_000088.4(COL1A1):c.2424_2425insCG (p.Gly809fs) rs1567756357
NM_000088.4(COL1A1):c.2424del (p.Gly809fs) rs1114167391
NM_000088.4(COL1A1):c.2424dup (p.Gly809fs) rs1114167391
NM_000088.4(COL1A1):c.2429del (p.Pro810fs)
NM_000088.4(COL1A1):c.2443_2444delinsC (p.Gly815fs)
NM_000088.4(COL1A1):c.2444G>C (p.Gly815Ala) rs66929517
NM_000088.4(COL1A1):c.2450del (p.Pro817fs) rs193922149
NM_000088.4(COL1A1):c.2450dup (p.Gly818fs) rs193922149
NM_000088.4(COL1A1):c.2451+1G>C
NM_000088.4(COL1A1):c.2451+2T>C
NM_000088.4(COL1A1):c.2451+5G>A rs2144554325
NM_000088.4(COL1A1):c.2452-1G>A rs72651667
NM_000088.4(COL1A1):c.2452-1G>C rs72651667
NM_000088.4(COL1A1):c.2452-2A>G
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser) rs1598290382
NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser) rs67693970
NM_000088.4(COL1A1):c.2482G>T (p.Glu828Ter)
NM_000088.4(COL1A1):c.249_252dup (p.Glu85fs)
NM_000088.4(COL1A1):c.2505del (p.Gly836fs)
NM_000088.4(COL1A1):c.2522del (p.Pro841fs) rs1906936483
NM_000088.4(COL1A1):c.2523del (p.Gly842fs) rs72653133
NM_000088.4(COL1A1):c.2525del (p.Gly842fs) rs1114167392
NM_000088.4(COL1A1):c.2530dup (p.Ala844fs) rs2144552926
NM_000088.4(COL1A1):c.2533G>A (p.Gly845Arg) rs72653136
NM_000088.4(COL1A1):c.2534G>C (p.Gly845Ala) rs1555572640
NM_000088.4(COL1A1):c.2544del (p.Pro850fs)
NM_000088.4(COL1A1):c.2549del (p.Pro850fs) rs1114167379
NM_000088.4(COL1A1):c.2550del (p.Gly851fs) rs1114167380
NM_000088.4(COL1A1):c.2552G>C (p.Gly851Ala) rs72653137
NM_000088.4(COL1A1):c.2559+1G>A
NM_000088.4(COL1A1):c.2560G>A (p.Gly854Ser)
NM_000088.4(COL1A1):c.2560G>C (p.Gly854Arg) rs72653140
NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys) rs72653141
NM_000088.4(COL1A1):c.2584A>T (p.Lys862Ter) rs2144552243
NM_000088.4(COL1A1):c.2585_2586del (p.Lys862fs) rs1598289920
NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser) rs67445413
NM_000088.4(COL1A1):c.2597del (p.Gly866fs)
NM_000088.4(COL1A1):c.2614-1G>C
NM_000088.4(COL1A1):c.2614-2A>G rs2144551661
NM_000088.4(COL1A1):c.262G>T (p.Glu88Ter) rs1555575370
NM_000088.4(COL1A1):c.2641G>A (p.Gly881Ser) rs765659555
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter) rs72653147
NM_000088.4(COL1A1):c.2665_2666insGCCGGTCCTCCTGGCCCCT (p.Ser889fs)
NM_000088.4(COL1A1):c.2667+1G>A rs72653150
NM_000088.4(COL1A1):c.2667+1G>T rs72653150
NM_000088.4(COL1A1):c.2667+3_2667+6del rs1114167393
NM_000088.4(COL1A1):c.2668-1G>A rs1114167394
NM_000088.4(COL1A1):c.2668-1G>T rs1114167394
NM_000088.4(COL1A1):c.266dup (p.Glu90fs)
NM_000088.4(COL1A1):c.2673dup (p.Ala892fs) rs1906878217
NM_000088.4(COL1A1):c.2678G>C (p.Gly893Ala) rs2144550692
NM_000088.4(COL1A1):c.2684del (p.Pro895fs) rs72653151
NM_000088.4(COL1A1):c.2684dup (p.Gly896fs) rs72653151
NM_000088.4(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.4(COL1A1):c.268G>T (p.Glu90Ter) rs748550422
NM_000088.4(COL1A1):c.2704G>A (p.Gly902Ser) rs1906874191
NM_000088.4(COL1A1):c.2705del (p.Gly902fs)
NM_000088.4(COL1A1):c.2717dup (p.Lys907fs) rs1598289365
NM_000088.4(COL1A1):c.2719A>T (p.Lys907Ter)
NM_000088.4(COL1A1):c.273dup (p.Cys92fs)
NM_000088.4(COL1A1):c.2756del (p.Pro919fs) rs2144550253
NM_000088.4(COL1A1):c.2769TCCCCCTGG[3] (p.925PGP[3]) rs1555572458
NM_000088.4(COL1A1):c.276T>A (p.Cys92Ter) rs1907921633
NM_000088.4(COL1A1):c.2774del (p.Pro925fs) rs1906868595
NM_000088.4(COL1A1):c.2775del (p.Gly926fs) rs878853274
NM_000088.4(COL1A1):c.2784del (p.Gly929fs) rs72653155
NM_000088.4(COL1A1):c.2786dup (p.Ala931fs) rs1598289247
NM_000088.4(COL1A1):c.2793del (p.Gly932fs) rs1906866028
NM_000088.4(COL1A1):c.2816del (p.Ala939fs)
NM_000088.4(COL1A1):c.2829+1G>A rs72653156
NM_000088.4(COL1A1):c.2829+1G>C rs72653156
NM_000088.4(COL1A1):c.2830-1G>A rs111594467
NM_000088.4(COL1A1):c.2831delG rs2144549369
NM_000088.4(COL1A1):c.2877del (p.Val960fs)
NM_000088.4(COL1A1):c.2881del (p.Val961fs) rs1114167381
NM_000088.4(COL1A1):c.2888_2889del (p.Leu963fs) rs1906847588
NM_000088.4(COL1A1):c.288del (p.Asp97fs) rs2144593759
NM_000088.4(COL1A1):c.2900del (p.Arg967fs) rs1906846472
NM_000088.4(COL1A1):c.2907_2908delinsAT (p.Arg970Ter) rs2144548967
NM_000088.4(COL1A1):c.2908_2911del (p.Arg970fs) rs1555572401
NM_000088.4(COL1A1):c.2910_2911del (p.Gly971fs) rs1555572401
NM_000088.4(COL1A1):c.2910_2929dup (p.Gly977fs)
NM_000088.4(COL1A1):c.2915del (p.Phe972fs) rs1598288967
NM_000088.4(COL1A1):c.291del (p.Asp97fs)
NM_000088.4(COL1A1):c.2928del (p.Gly977fs) rs1906843530
NM_000088.4(COL1A1):c.2934del (p.Ser979fs) rs1114167395
NM_000088.4(COL1A1):c.2935del (p.Ser979fs) rs1906842230
NM_000088.4(COL1A1):c.2938-1G>C
NM_000088.4(COL1A1):c.2938-2A>G
NM_000088.4(COL1A1):c.298+1G>A rs2144593670
NM_000088.4(COL1A1):c.298+2T>A
NM_000088.4(COL1A1):c.2985del (p.Pro997fs) rs1906818829
NM_000088.4(COL1A1):c.299-1G>C
NM_000088.4(COL1A1):c.2990del (p.Pro997fs) rs1598288648
NM_000088.4(COL1A1):c.2T>C (p.Met1Thr) rs1567766338
NM_000088.4(COL1A1):c.3002del (p.Gly1001fs) rs1598288593
NM_000088.4(COL1A1):c.3008del (p.Pro1003fs) rs72653168
NM_000088.4(COL1A1):c.3008dup (p.Gly1004fs) rs72653168
NM_000088.4(COL1A1):c.3009del (p.Gly1004fs) rs2144547648
NM_000088.4(COL1A1):c.3014T>A (p.Leu1005Ter) rs2144547622
NM_000088.4(COL1A1):c.3020del (p.Gly1007fs) rs2144547600
NM_000088.4(COL1A1):c.3026del (p.Pro1009fs) rs1114167396
NM_000088.4(COL1A1):c.3034del (p.Ser1012fs)
NM_000088.4(COL1A1):c.3045+1G>A rs1114167382
NM_000088.4(COL1A1):c.3045+1del rs2144547449
NM_000088.4(COL1A1):c.3046-2A>C
NM_000088.4(COL1A1):c.3046-2A>T rs72653171
NM_000088.4(COL1A1):c.3051del (p.Pro1018fs) rs2144546898
NM_000088.4(COL1A1):c.3055G>T (p.Gly1019Cys) rs1598288342
NM_000088.4(COL1A1):c.3061G>T (p.Glu1021Ter) rs139593707
NM_000088.4(COL1A1):c.3061_3068del (p.Glu1021fs) rs2144546781
NM_000088.4(COL1A1):c.3065G>C (p.Gly1022Ala) rs67771061
NM_000088.4(COL1A1):c.3065G>T (p.Gly1022Val) rs67771061
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.3082G>A (p.Gly1028Ser)
NM_000088.4(COL1A1):c.3099+1G>A rs1555572316
NM_000088.4(COL1A1):c.3100-1G>A rs1906773628
NM_000088.4(COL1A1):c.310_313del (p.Asp104fs) rs1907889665
NM_000088.4(COL1A1):c.3114dup (p.Thr1039fs) rs1598288070
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.4(COL1A1):c.3123del (p.Ala1042fs) rs886039693
NM_000088.4(COL1A1):c.3126_3130dup (p.Pro1044fs)
NM_000088.4(COL1A1):c.3135del (p.Gly1046fs) rs1598288002
NM_000088.4(COL1A1):c.313C>T (p.Gln105Ter)
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2]) rs74315111
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly) rs74315111
NM_000088.4(COL1A1):c.3155G>C (p.Gly1052Ala)
NM_000088.4(COL1A1):c.3156del (p.Ala1053fs)
NM_000088.4(COL1A1):c.3157_3170del (p.Ala1053fs) rs1555572249
NM_000088.4(COL1A1):c.3162del (p.Gly1055fs) rs72654794
NM_000088.4(COL1A1):c.3168dup (p.Val1057fs)
NM_000088.4(COL1A1):c.316G>T (p.Glu106Ter) rs2144592516
NM_000088.4(COL1A1):c.3176del (p.Pro1059fs)
NM_000088.4(COL1A1):c.3189del (p.Ser1063fs)
NM_000088.4(COL1A1):c.3191del (p.Gly1064fs)
NM_000088.4(COL1A1):c.319_322dup (p.Thr108fs)
NM_000088.4(COL1A1):c.3207+1G>A rs1555572239
NM_000088.4(COL1A1):c.3207+1G>C rs1555572239
NM_000088.4(COL1A1):c.3207+2T>C rs2144545179
NM_000088.4(COL1A1):c.3208-2A>C
NM_000088.4(COL1A1):c.3225del (p.Gly1076fs) rs1567754277
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.322del (p.Thr108fs)
NM_000088.4(COL1A1):c.3233_3236del (p.Val1078fs) rs1114167398
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser) rs72654802
NM_000088.4(COL1A1):c.3243dup (p.Gly1082fs)
NM_000088.4(COL1A1):c.3250del (p.Arg1084fs) rs2144543514
NM_000088.4(COL1A1):c.3261del (p.Gly1088fs) rs2144543361
NM_000088.4(COL1A1):c.3262-1G>A rs2144542880
NM_000088.4(COL1A1):c.3277dup (p.Arg1093fs)
NM_000088.4(COL1A1):c.3283_3284dup (p.Asp1095fs) rs1555572121
NM_000088.4(COL1A1):c.3285dup (p.Lys1096fs) rs1555572120
NM_000088.4(COL1A1):c.3301G>T (p.Glu1101Ter) rs867628651
NM_000088.4(COL1A1):c.3302_3303insTTGTAACTATTATGAGTCCTAGTTGACTTGAAGTGGAGAAGGCTACGATTTTTTTGAAGCCGCCTAGTTTTAAGAGTACTGCGGCAAGTACTATTGACCCAGCGATGGGGGCTTCGACATGGGCTTTAGGGAGTCATAAGTGGAGTCCGTAAGGCGA (p.Glu1101delinsAspCysAsnTyrTyrGluSerTer) rs2144542594
NM_000088.4(COL1A1):c.3304C>T (p.Gln1102Ter) rs2144542582
NM_000088.4(COL1A1):c.3315_3316del (p.Gly1106fs)
NM_000088.4(COL1A1):c.333+1G>A rs2144592402
NM_000088.4(COL1A1):c.333+1G>C
NM_000088.4(COL1A1):c.333+1G>T
NM_000088.4(COL1A1):c.333+2T>C rs72667012
NM_000088.4(COL1A1):c.333G>A (p.Glu111=) rs2857400
NM_000088.4(COL1A1):c.334-1G>A rs1598301459
NM_000088.4(COL1A1):c.334-9A>G rs1567764387
NM_000088.4(COL1A1):c.334G>T (p.Gly112Ter)
NM_000088.4(COL1A1):c.3359del (p.Pro1120fs)
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs) rs1260429820
NM_000088.4(COL1A1):c.3369+1G>A rs1906695650
NM_000088.4(COL1A1):c.3369+1G>C
NM_000088.4(COL1A1):c.3369+2T>C
NM_000088.4(COL1A1):c.3377del (p.Pro1126fs)
NM_000088.4(COL1A1):c.3385C>T (p.Gln1129Ter) rs2144540723
NM_000088.4(COL1A1):c.3389del (p.Gly1130fs)
NM_000088.4(COL1A1):c.3394del (p.Ser1132fs)
NM_000088.4(COL1A1):c.3399del (p.Ala1134fs) rs1906658881
NM_000088.4(COL1A1):c.3423_3423+1del rs2144540520
NM_000088.4(COL1A1):c.3424-6C>G rs370865189
NM_000088.4(COL1A1):c.3431dup (p.Gly1145fs) rs1555571942
NM_000088.4(COL1A1):c.3432del (p.Gly1145fs) rs2144539233
NM_000088.4(COL1A1):c.3451G>A (p.Gly1151Ser) rs72656320
NM_000088.4(COL1A1):c.3452del (p.Gly1151fs)
NM_000088.4(COL1A1):c.3463del (p.Leu1155fs)
NM_000088.4(COL1A1):c.3470G>A (p.Gly1157Asp) rs72656323
NM_000088.4(COL1A1):c.3487G>A (p.Gly1163Arg) rs1567753329
NM_000088.4(COL1A1):c.3494del (p.Pro1165fs) rs1598286050
NM_000088.4(COL1A1):c.3494dup (p.Gly1166fs) rs1598286050
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs) rs1555571916
NM_000088.4(COL1A1):c.3496G>A (p.Gly1166Ser) rs72656324
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.4(COL1A1):c.351dup (p.Gly118fs)
NM_000088.4(COL1A1):c.3531+1G>A rs72656326
NM_000088.4(COL1A1):c.3531+1G>C rs72656326
NM_000088.4(COL1A1):c.3531+1G>T
NM_000088.4(COL1A1):c.3531+2T>C
NM_000088.4(COL1A1):c.3531+5G>A rs72656327
NM_000088.4(COL1A1):c.3532-1G>T
NM_000088.4(COL1A1):c.3540del (p.Gly1181fs)
NM_000088.4(COL1A1):c.3540dup (p.Gly1181fs) rs1555571874
NM_000088.4(COL1A1):c.3566del (p.Pro1189fs) rs1567753046
NM_000088.4(COL1A1):c.3566dup (p.Gly1190fs) rs1567753046
NM_000088.4(COL1A1):c.3567del (p.Gly1190fs) rs886042286
NM_000088.4(COL1A1):c.3569G>A (p.Gly1190Asp) rs2144537730
NM_000088.4(COL1A1):c.3589_3590del (p.Asp1197fs) rs72656336
NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter) rs762979302
NM_000088.4(COL1A1):c.3593del (p.Phe1198fs) rs1567752998
NM_000088.4(COL1A1):c.3607C>T (p.Gln1203Ter) rs1114167399
NM_000088.4(COL1A1):c.3638del (p.Gly1213fs) rs2144537204
NM_000088.4(COL1A1):c.3641del (p.Arg1214fs) rs1567752926
NM_000088.4(COL1A1):c.3647A>G (p.Tyr1216Cys) rs1555571849
NM_000088.4(COL1A1):c.3649del (p.Arg1217fs) rs2144537122
NM_000088.4(COL1A1):c.3652G>A (p.Ala1218Thr) rs72656337
NM_000088.4(COL1A1):c.3653C>T (p.Ala1218Val)
NM_000088.4(COL1A1):c.3654_3662del (p.Asp1219_Ala1221del)
NM_000088.4(COL1A1):c.370-1G>A rs2144591532
NM_000088.4(COL1A1):c.370-1G>T rs2144591532
NM_000088.4(COL1A1):c.3711_3712delinsG (p.Ser1237fs) rs2144536639
NM_000088.4(COL1A1):c.3713_3719dup (p.Gln1240fs)
NM_000088.4(COL1A1):c.3748_3752dup (p.Ser1251fs) rs1114167400
NM_000088.4(COL1A1):c.3749del (p.Gly1250fs) rs1906565901
NM_000088.4(COL1A1):c.3768_3769dup (p.Arg1257fs) rs1906559620
NM_000088.4(COL1A1):c.376_383del (p.Ala126fs)
NM_000088.4(COL1A1):c.3788del (p.Lys1263fs) rs1114167401
NM_000088.4(COL1A1):c.3790A>G (p.Met1264Val) rs72656340
NM_000088.4(COL1A1):c.3806G>A (p.Trp1269Ter) rs72656341
NM_000088.4(COL1A1):c.3807G>A (p.Trp1269Ter)
NM_000088.4(COL1A1):c.380del (p.Gly127fs) rs2144591470
NM_000088.4(COL1A1):c.3814+1G>C rs2144535840
NM_000088.4(COL1A1):c.3814+2T>C rs112830882
NM_000088.4(COL1A1):c.3814G>T (p.Gly1272Ter)
NM_000088.4(COL1A1):c.3815-1G>A
NM_000088.4(COL1A1):c.3815G>T (p.Gly1272Val) rs1114167402
NM_000088.4(COL1A1):c.3817G>T (p.Glu1273Ter) rs1203106659
NM_000088.4(COL1A1):c.3819_3822delinsTTGATTGTGGTCCACAGGGT (p.Glu1273_Tyr1274delinsAspTer)
NM_000088.4(COL1A1):c.3820_3821dup (p.Trp1275fs) rs1598285120
NM_000088.4(COL1A1):c.3824G>A (p.Trp1275Ter) rs1906536457
NM_000088.4(COL1A1):c.3825G>A (p.Trp1275Ter) rs1555571766
NM_000088.4(COL1A1):c.3834del (p.Asn1279fs)
NM_000088.4(COL1A1):c.3855T>A (p.Asp1285Glu) rs1598285068
NM_000088.4(COL1A1):c.386del (p.Pro129fs) rs72667014
NM_000088.4(COL1A1):c.386dup (p.Gly130fs) rs72667014
NM_000088.4(COL1A1):c.3871_3881del (p.Cys1291fs)
NM_000088.4(COL1A1):c.3877dup (p.Met1293fs) rs2144534897
NM_000088.4(COL1A1):c.387del (p.Gly130fs) rs1555575086
NM_000088.4(COL1A1):c.3893C>A (p.Thr1298Asn) rs1555571755
NM_000088.4(COL1A1):c.3903C>A (p.Tyr1301Ter) rs1239012334
NM_000088.4(COL1A1):c.3910C>T (p.Gln1304Ter) rs2144534686
NM_000088.4(COL1A1):c.391C>T (p.Arg131Ter) rs776611767
NM_000088.4(COL1A1):c.3928A>T (p.Lys1310Ter)
NM_000088.4(COL1A1):c.3936G>A (p.Trp1312Ter) rs72656343
NM_000088.4(COL1A1):c.394_395del (p.Asp132fs) rs2144591295
NM_000088.4(COL1A1):c.3G>A (p.Met1Ile) rs1567766329
NM_000088.4(COL1A1):c.3G>T (p.Met1Ile) rs1567766329
NM_000088.4(COL1A1):c.4003C>T (p.Gln1335Ter) rs868166455
NM_000088.4(COL1A1):c.4005+1G>C
NM_000088.4(COL1A1):c.4006-1G>A
NM_000088.4(COL1A1):c.4006-2A>G
NM_000088.4(COL1A1):c.4014del (p.Glu1337_Tyr1338insTer) rs1906488067
NM_000088.4(COL1A1):c.401dup (p.Gly136fs)
NM_000088.4(COL1A1):c.4051C>T (p.Gln1351Ter)
NM_000088.4(COL1A1):c.4056_4060del (p.Thr1353fs)
NM_000088.4(COL1A1):c.4063del (p.Leu1355fs)
NM_000088.4(COL1A1):c.4066delinsGTGTCCTGGAAG (p.Arg1356fs)
NM_000088.4(COL1A1):c.4070_4206dup (p.Asn1403Ter)
NM_000088.4(COL1A1):c.4081G>T (p.Glu1361Ter) rs141011435
NM_000088.4(COL1A1):c.4090C>T (p.Gln1364Ter) rs1555571647
NM_000088.4(COL1A1):c.4100C>A (p.Thr1367Asn) rs2144532190
NM_000088.4(COL1A1):c.4135C>T (p.Gln1379Ter)
NM_000088.4(COL1A1):c.4159G>A (p.Ala1387Thr) rs1598284183
NM_000088.4(COL1A1):c.415G>T (p.Gly139Ter)
NM_000088.4(COL1A1):c.4163T>C (p.Leu1388Pro) rs72656348
NM_000088.4(COL1A1):c.4248+2T>C rs112274185
NM_000088.4(COL1A1):c.4292C>T (p.Thr1431Ile) rs1114167403
NM_000088.4(COL1A1):c.4321G>C (p.Asp1441His) rs72656351
NM_000088.4(COL1A1):c.4321G>T (p.Asp1441Tyr) rs72656351
NM_000088.4(COL1A1):c.4321_4327dup (p.Ala1443fs) rs1555571529
NM_000088.4(COL1A1):c.4325_4347del (p.Val1442fs) rs1906421838
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val) rs1131692326
NM_000088.4(COL1A1):c.4329_4332dup (p.Leu1445fs) rs1114167405
NM_000088.4(COL1A1):c.432del (p.Gly145fs) rs72667016
NM_000088.4(COL1A1):c.432dup (p.Gly145fs) rs72667016
NM_000088.4(COL1A1):c.4332del (p.Leu1445fs) rs1114167405
NM_000088.4(COL1A1):c.4332dup (p.Asp1446fs) rs1114167405
NM_000088.4(COL1A1):c.4358_4362del (p.Glu1453fs) rs72656352
NM_000088.4(COL1A1):c.4386del (p.Phe1463fs) rs1114167406
NM_000088.4(COL1A1):c.4391T>C (p.Leu1464Pro) rs72656353
NM_000088.4(COL1A1):c.441del (p.Gly148fs) rs1473458290
NM_000088.4(COL1A1):c.452dup (p.Pro152fs) rs2144590955
NM_000088.4(COL1A1):c.458del (p.Pro153fs) rs1114167407
NM_000088.4(COL1A1):c.458dup (p.Gly154fs) rs1114167407
NM_000088.4(COL1A1):c.459del (p.Gly154fs) rs72667017
NM_000088.4(COL1A1):c.471+5G>A rs1555575015
NM_000088.4(COL1A1):c.471+5G>T rs1555575015
NM_000088.4(COL1A1):c.481_499dup (p.Tyr167fs) rs1555574871
NM_000088.4(COL1A1):c.510del (p.Lys170fs) rs1907793241
NM_000088.4(COL1A1):c.514del (p.Thr172fs)
NM_000088.4(COL1A1):c.517G>T (p.Gly173Ter) rs193922157
NM_000088.4(COL1A1):c.52_53insA (p.Leu18fs) rs2144600428
NM_000088.4(COL1A1):c.543+1G>A rs2144588841
NM_000088.4(COL1A1):c.543+1G>T rs2144588841
NM_000088.4(COL1A1):c.543+5G>A rs1907787005
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile) rs72667022
NM_000088.4(COL1A1):c.543G>T (p.Met181Ile)
NM_000088.4(COL1A1):c.544-2A>G
NM_000088.4(COL1A1):c.554del (p.Gly185fs)
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp) rs1114167408
NM_000088.4(COL1A1):c.569del (p.Pro190fs)
NM_000088.4(COL1A1):c.571G>A (p.Gly191Ser) rs1567763451
NM_000088.4(COL1A1):c.572del (p.Gly191fs) rs1567763447
NM_000088.4(COL1A1):c.577_578del (p.Pro193fs)
NM_000088.4(COL1A1):c.578del (p.Pro193fs) rs1598300304
NM_000088.4(COL1A1):c.578dup (p.Gly194fs) rs1598300304
NM_000088.4(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.4(COL1A1):c.582del (p.Ala195fs) rs2144587690
NM_000088.4(COL1A1):c.588+1G>A rs72667025
NM_000088.4(COL1A1):c.588+5G>A
NM_000088.4(COL1A1):c.589-2A>G rs72667027
NM_000088.4(COL1A1):c.589G>T (p.Gly197Cys) rs8179178
NM_000088.4(COL1A1):c.590G>C (p.Gly197Ala)
NM_000088.4(COL1A1):c.590G>T (p.Gly197Val) rs72667028
NM_000088.4(COL1A1):c.595C>T (p.Gln199Ter) rs2144587073
NM_000088.4(COL1A1):c.597dup (p.Gly200fs) rs2144587059
NM_000088.4(COL1A1):c.598G>A (p.Gly200Ser)
NM_000088.4(COL1A1):c.599G>T (p.Gly200Val) rs72667029
NM_000088.4(COL1A1):c.607G>A (p.Gly203Ser) rs72667030
NM_000088.4(COL1A1):c.607G>C (p.Gly203Arg) rs72667030
NM_000088.4(COL1A1):c.608G>A (p.Gly203Asp) rs72667031
NM_000088.4(COL1A1):c.608G>T (p.Gly203Val) rs72667031
NM_000088.4(COL1A1):c.614del (p.Pro205fs)
NM_000088.4(COL1A1):c.614dup (p.Gly206fs) rs72667033
NM_000088.4(COL1A1):c.619dup (p.Glu207fs)
NM_000088.4(COL1A1):c.622_642+3delinsGGGGGGAGCACTGTATAG
NM_000088.4(COL1A1):c.626G>A (p.Gly209Asp) rs1907746069
NM_000088.4(COL1A1):c.634G>A (p.Gly212Arg)
NM_000088.4(COL1A1):c.642+2T>A rs2144586769
NM_000088.4(COL1A1):c.64G>C (p.Gly22Arg) rs72667007
NM_000088.4(COL1A1):c.652G>C (p.Gly218Arg) rs2144586064
NM_000088.4(COL1A1):c.652G>T (p.Gly218Cys) rs2144586064
NM_000088.4(COL1A1):c.653G>T (p.Gly218Val)
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_000088.4(COL1A1):c.661G>A (p.Gly221Ser) rs72667037
NM_000088.4(COL1A1):c.661G>T (p.Gly221Cys) rs72667037
NM_000088.4(COL1A1):c.670G>A (p.Gly224Ser)
NM_000088.4(COL1A1):c.670G>T (p.Gly224Cys)
NM_000088.4(COL1A1):c.671G>C (p.Gly224Ala)
NM_000088.4(COL1A1):c.677dup (p.Gly227fs) rs1598299754
NM_000088.4(COL1A1):c.678del (p.Gly227fs) rs1555574638
NM_000088.4(COL1A1):c.696+1G>A rs2144585785
NM_000088.4(COL1A1):c.71del (p.Glu24fs) rs1908087291
NM_000088.4(COL1A1):c.73G>T (p.Glu25Ter)
NM_000088.4(COL1A1):c.79C>T (p.Gln27Ter)
NM_000088.4(COL1A1):c.91C>T (p.Gln31Ter) rs794726873
NM_000088.4(COL1A1):c.931G>C (p.Gly311Arg) rs72645345
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.4(COL1A1):c.938del (p.Pro313fs) rs1598298292
NM_000088.4(COL1A1):c.958-1G>A rs72645352
NM_000088.4(COL1A1):c.958-1G>C rs72645352
NM_000088.4(COL1A1):c.959G>A (p.Gly320Asp) rs72645353
NM_000088.4(COL1A1):c.959G>T (p.Gly320Val)
NM_000088.4(COL1A1):c.962dup (p.Arg322fs) rs1555574319
NM_000088.4(COL1A1):c.972_978dup (p.Ala327Ter) rs1114167411
NM_000088.4(COL1A1):c.976G>A (p.Gly326Ser)
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg) rs72645355
NM_000088.4(COL1A1):c.977G>A (p.Gly326Asp) rs72645356
NM_000088.4(COL1A1):c.977del (p.Gly326fs)
NM_000088.4(COL1A1):c.97del (p.Glu33fs)
NM_000088.4(COL1A1):c.984del (p.Gly329fs) rs2144579869
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) rs72645357

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.