ClinVar Miner

List of variants in gene COL1A1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 818
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799 0.00009
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
COL1A1, 9-BP DEL
COL1A1, EX22DEL
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.(?_50193945)_(50201396_?)del
NC_000017.11:g.(?_50194701)_(50203629_?)del
NC_000017.11:g.50186508del rs2144535299
NC_000017.11:g.50187123dup
NC_000017.11:g.50188796del
NC_000017.11:g.50189539del
NC_000017.11:g.50190597del
NC_000017.11:g.50193048del
NC_000017.11:g.50194829del rs1165573890
NC_000017.11:g.50198206del rs1907770102
NM_000088.3(COL1A1):c.1301delG (p.Gly434Valfs) rs1555573968
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.3131_3133delinsT (p.Pro1044fs) rs1567754639
NM_000088.3(COL1A1):c.3188_3190delGTGins13 (p.?)
NM_000088.3(COL1A1):c.3371del
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.104-1G>T rs1555575456
NM_000088.4(COL1A1):c.104-2A>G rs2144594870
NM_000088.4(COL1A1):c.104-2A>T 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>A (p.Gly353Ser) rs66721653
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>A (p.Gly356Ser)
NM_000088.4(COL1A1):c.1066G>T (p.Gly356Cys) rs72645365
NM_000088.4(COL1A1):c.1072del (p.Gln358fs)
NM_000088.4(COL1A1):c.1076G>A (p.Gly359Glu) rs1085307454
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.1094G>T (p.Gly365Val) rs66494876
NM_000088.4(COL1A1):c.1099C>T (p.Gln367Ter) rs1555574158
NM_000088.4(COL1A1):c.1102G>T (p.Gly368Cys) rs72645367
NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala) rs1555574151
NM_000088.4(COL1A1):c.1103G>T (p.Gly368Val) 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.1174G>A (p.Gly392Arg)
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>C (p.Gly398Arg) rs72648319
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.1247G>T (p.Gly416Val) rs1135401953
NM_000088.4(COL1A1):c.1247del (p.Gly416fs) rs1555574071
NM_000088.4(COL1A1):c.124C>T (p.Gln42Ter)
NM_000088.4(COL1A1):c.1252del (p.Ser418fs) rs2144575699
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.1281del (p.Gly428fs) rs1907477506
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.1300G>A (p.Gly434Ser) rs1555573969
NM_000088.4(COL1A1):c.1301G>T (p.Gly434Val) rs72648333
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.1354-1G>T
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.1426G>A (p.Gly476Arg)
NM_000088.4(COL1A1):c.1426_1427dup (p.Pro477fs) rs2144573120
NM_000088.4(COL1A1):c.1438del (p.Leu480fs)
NM_000088.4(COL1A1):c.1444G>A (p.Gly482Arg) rs72648344
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.1462G>A (p.Gly488Ser) rs1328384458
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.148C>T (p.Arg50Ter) rs1555575425
NM_000088.4(COL1A1):c.1492del (p.Ala498fs) rs1598295794
NM_000088.4(COL1A1):c.1496_1497del (p.Asp499fs) rs1555573789
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.1516-1G>C rs72648352
NM_000088.4(COL1A1):c.154_163del (p.Val52fs) rs2144594472
NM_000088.4(COL1A1):c.1557del (p.Gly521fs)
NM_000088.4(COL1A1):c.1561G>T (p.Gly521Ter) rs2144571189
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.1598G>A (p.Gly533Asp) rs72648356
NM_000088.4(COL1A1):c.159G>A (p.Trp53Ter)
NM_000088.4(COL1A1):c.1601del (p.Leu534fs) rs1598295506
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.1615G>A (p.Gly539Ser) rs1555573699
NM_000088.4(COL1A1):c.1618del (p.Gly539_Leu540insTer) rs1555573696
NM_000088.4(COL1A1):c.162_168dup (p.Pro57fs)
NM_000088.4(COL1A1):c.162del (p.Lys54fs) rs1131691607
NM_000088.4(COL1A1):c.1631del (p.Pro544fs)
NM_000088.4(COL1A1):c.1646del (p.Pro549fs) rs1907351704
NM_000088.4(COL1A1):c.1652del (p.Gly551fs) rs1555573684
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.1670G>A (p.Gly557Asp)
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.1696G>A (p.Gly566Arg) rs67416837
NM_000088.4(COL1A1):c.1703del (p.Pro568fs) rs1555573629
NM_000088.4(COL1A1):c.1705G>C (p.Gly569Arg) rs72648363
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.1767+2T>G rs794727394
NM_000088.4(COL1A1):c.1768-1G>A rs72648370
NM_000088.4(COL1A1):c.1772_1773del (p.Glu591fs) rs1555573484
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser) rs66527965
NM_000088.4(COL1A1):c.1777G>T (p.Gly593Cys) rs66527965
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>A (p.Gly602Arg) rs72651615
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.1840G>T (p.Gly614Ter) rs1907214691
NM_000088.4(COL1A1):c.1843G>T (p.Glu615Ter) rs1598293920
NM_000088.4(COL1A1):c.1845_1847del (p.Glu615_Ala616delinsAsp) rs72651618
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+1G>C rs72651622
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.1921G>T (p.Gly641Ter) rs2144563717
NM_000088.4(COL1A1):c.1922G>C (p.Gly641Ala) rs1598293646
NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val) 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.1930G>A (p.Gly644Ser) rs1057524547
NM_000088.4(COL1A1):c.1958del (p.Gly653fs)
NM_000088.4(COL1A1):c.1978G>T (p.Glu660Ter)
NM_000088.4(COL1A1):c.197_199delinsTGTTGCC (p.Gly66fs) rs886041871
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>C rs72651632
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.2029-1G>T rs1201602830
NM_000088.4(COL1A1):c.2039del (p.Gly680fs)
NM_000088.4(COL1A1):c.2058_2062del (p.Val687fs) rs1907110994
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter) rs193922144
NM_000088.4(COL1A1):c.2072del (p.Pro691fs) rs72651639
NM_000088.4(COL1A1):c.2073del (p.Gly692fs) rs72651640
NM_000088.4(COL1A1):c.2075G>C (p.Gly692Ala) rs1114167388
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.2102del (p.Gly701fs) rs1907103040
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.2110G>T (p.Gly704Cys) rs67368147
NM_000088.4(COL1A1):c.2119G>A (p.Gly707Ser) rs886041817
NM_000088.4(COL1A1):c.2120G>A (p.Gly707Asp) rs1420427521
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.2138G>A (p.Gly713Asp) rs1555573040
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.2156G>A (p.Gly719Asp) rs72651646
NM_000088.4(COL1A1):c.2159del (p.Ser720fs) rs2144558687
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter) rs193922145
NM_000088.4(COL1A1):c.2164G>A (p.Gly722Ser) rs72651647
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.2210G>A (p.Gly737Asp) rs72651651
NM_000088.4(COL1A1):c.2217del (p.Pro741fs) rs1555573004
NM_000088.4(COL1A1):c.2228G>T (p.Gly743Val) rs72651653
NM_000088.4(COL1A1):c.2235+1G>A rs1114167390
NM_000088.4(COL1A1):c.2235+1G>C rs1114167390
NM_000088.4(COL1A1):c.2235_2235+1del rs2144558158
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.2291G>T (p.Gly764Val) rs72651657
NM_000088.4(COL1A1):c.2293_2306del (p.Leu765fs)
NM_000088.4(COL1A1):c.2298_2299inv (p.Gly767Ser)
NM_000088.4(COL1A1):c.229G>T (p.Glu77Ter) rs753683126
NM_000088.4(COL1A1):c.2304dup (p.Ile769fs)
NM_000088.4(COL1A1):c.2317G>T (p.Gly773Cys)
NM_000088.4(COL1A1):c.2333del (p.Pro778fs)
NM_000088.4(COL1A1):c.2334del (p.Gly779fs)
NM_000088.4(COL1A1):c.2335G>A (p.Gly779Ser) rs72651661
NM_000088.4(COL1A1):c.2341_2451+60del rs1906960583
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>A rs193922147
NM_000088.4(COL1A1):c.2398-1G>C rs193922147
NM_000088.4(COL1A1):c.2398-1G>T
NM_000088.4(COL1A1):c.2398-2A>G rs2144554674
NM_000088.4(COL1A1):c.2400_2409delinsGAAAGGGGAAGAGGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGA (p.Asp801fs) rs2144554620
NM_000088.4(COL1A1):c.2407G>A (p.Gly803Ser)
NM_000088.4(COL1A1):c.2408G>T (p.Gly803Val) rs1555572756
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.2425G>A (p.Gly809Ser) rs72651663
NM_000088.4(COL1A1):c.2429del (p.Pro810fs)
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000088.4(COL1A1):c.2443_2444delinsC (p.Gly815fs)
NM_000088.4(COL1A1):c.2444G>C (p.Gly815Ala) rs66929517
NM_000088.4(COL1A1):c.2444G>T (p.Gly815Val) rs66929517
NM_000088.4(COL1A1):c.2445_2446delinsA (p.Pro817fs) rs2144554392
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.2471del (p.Gly824fs) rs2144553293
NM_000088.4(COL1A1):c.2482G>T (p.Glu828Ter)
NM_000088.4(COL1A1):c.2484_2510dup (p.Glu828_Gly836dup) rs1555572656
NM_000088.4(COL1A1):c.2490del (p.Asp831fs) rs1906940130
NM_000088.4(COL1A1):c.249_252dup (p.Glu85fs)
NM_000088.4(COL1A1):c.2505del (p.Gly836fs)
NM_000088.4(COL1A1):c.2515G>A (p.Gly839Ser) rs72653131
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.253_286del (p.Glu85fs) rs1907920572
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>A (p.Gly851Asp) rs72653137
NM_000088.4(COL1A1):c.2552G>C (p.Gly851Ala) rs72653137
NM_000088.4(COL1A1):c.2559+1G>A
NM_000088.4(COL1A1):c.2560-1G>A rs72653139
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.2605G>T (p.Gly869Cys) rs72653143
NM_000088.4(COL1A1):c.2614-1G>C
NM_000088.4(COL1A1):c.2614-2A>G rs2144551661
NM_000088.4(COL1A1):c.2615G>T (p.Gly872Val) rs1555572537
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.2650G>A (p.Gly884Ser) rs1567755602
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>C 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.2686G>T (p.Gly896Cys) rs72653152
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.2715del (p.Gly906fs) rs2144550479
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.2740_2741insCCCACCCCATGCACTGGCTCCAGTGCGGCTCTCATCTGGGGAGCAGGAAGACGCAG (p.Gly914fs) rs2144550352
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.2776G>T (p.Gly926Cys) rs72653154
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.2810del (p.Pro937fs) rs2144549885
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.2848G>A (p.Gly950Arg)
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.2939G>T (p.Gly980Val) rs72653166
NM_000088.4(COL1A1):c.2969del (p.Ala990fs) rs1906821341
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>A rs1598301619
NM_000088.4(COL1A1):c.299-1G>C
NM_000088.4(COL1A1):c.299-2A>G
NM_000088.4(COL1A1):c.2990del (p.Pro997fs) rs1598288648
NM_000088.4(COL1A1):c.2991del (p.Gly998fs) rs886042603
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.3028G>A (p.Gly1010Ser) rs72653169
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.3046-1G>T rs67965462
NM_000088.4(COL1A1):c.3046-2A>C
NM_000088.4(COL1A1):c.3046-2A>T rs72653171
NM_000088.4(COL1A1):c.3046G>A (p.Gly1016Arg) rs1555572331
NM_000088.4(COL1A1):c.3051del (p.Pro1018fs) rs2144546898
NM_000088.4(COL1A1):c.3055G>T (p.Gly1019Cys) rs1598288342
NM_000088.4(COL1A1):c.3056G>C (p.Gly1019Ala) rs1135348
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.3064G>A (p.Gly1022Ser) rs66523073
NM_000088.4(COL1A1):c.3064G>T (p.Gly1022Cys)
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.3073G>A (p.Gly1025Arg) rs72653172
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.3100-2A>G
NM_000088.4(COL1A1):c.3102_3111dup (p.Glu1038Ter) rs2144546004
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.3164G>A (p.Gly1055Asp) rs1906761196
NM_000088.4(COL1A1):c.3168del (p.Val1057fs) rs1555572254
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.3182G>A (p.Gly1061Asp) rs72654797
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+1_3207+2del rs1064796200
NM_000088.4(COL1A1):c.3207+2T>C rs2144545179
NM_000088.4(COL1A1):c.3208-2A>C
NM_000088.4(COL1A1):c.3208G>A (p.Gly1070Ser) rs1057518221
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.3244G>T (p.Gly1082Cys) rs72656303
NM_000088.4(COL1A1):c.3250del (p.Arg1084fs) rs2144543514
NM_000088.4(COL1A1):c.3261+1G>A rs2144543339
NM_000088.4(COL1A1):c.3261del (p.Gly1088fs) rs2144543361
NM_000088.4(COL1A1):c.3262-1G>A rs2144542880
NM_000088.4(COL1A1):c.3268C>T (p.Gln1090Ter) rs2144542850
NM_000088.4(COL1A1):c.3270del (p.Gly1091fs) rs1555572125
NM_000088.4(COL1A1):c.3271G>A (p.Gly1091Ser) rs72656306
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.3370-1G>C rs112042777
NM_000088.4(COL1A1):c.3377del (p.Pro1126fs)
NM_000088.4(COL1A1):c.3379G>T (p.Gly1127Cys) rs1555572024
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.3406G>A (p.Gly1136Ser) rs1555572015
NM_000088.4(COL1A1):c.3415G>A (p.Gly1139Ser) rs886041904
NM_000088.4(COL1A1):c.3416G>A (p.Gly1139Asp) rs1064796499
NM_000088.4(COL1A1):c.3421del (p.Arg1141fs) rs1598286543
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.3443G>A (p.Gly1148Asp) rs1131692320
NM_000088.4(COL1A1):c.3451G>A (p.Gly1151Ser) rs72656320
NM_000088.4(COL1A1):c.3452G>T (p.Gly1151Val) rs72656321
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.3479G>A (p.Gly1160Asp) rs886039726
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.3496G>T (p.Gly1166Cys) rs72656324
NM_000088.4(COL1A1):c.3500del (p.Pro1167fs)
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.3541G>A (p.Gly1181Ser) rs72656330
NM_000088.4(COL1A1):c.3550G>A (p.Gly1184Arg) rs1906591346
NM_000088.4(COL1A1):c.3551G>T (p.Gly1184Val) rs72656331
NM_000088.4(COL1A1):c.3559G>A (p.Gly1187Ser) rs72656332
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.358del (p.Arg120fs) rs2144591969
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.3652G>C (p.Ala1218Pro) 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.3655G>A (p.Asp1219Asn) rs72656338
NM_000088.4(COL1A1):c.3671_3683del (p.Val1224fs) rs2144536796
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+1G>T
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.3815-1G>C
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.3897C>G (p.Cys1299Trp) rs34940368
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.3925C>T (p.Gln1309Ter) rs2144534607
NM_000088.4(COL1A1):c.3928A>T (p.Lys1310Ter)
NM_000088.4(COL1A1):c.3936G>A (p.Trp1312Ter) rs72656343
NM_000088.4(COL1A1):c.3936G>T (p.Trp1312Cys) rs72656343
NM_000088.4(COL1A1):c.3939C>A (p.Tyr1313Ter) rs886042609
NM_000088.4(COL1A1):c.394_395del (p.Asp132fs) rs2144591295
NM_000088.4(COL1A1):c.3969dup (p.Val1324fs) rs2144534312
NM_000088.4(COL1A1):c.3977T>G (p.Phe1326Cys)
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>A
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.4035del (p.Ala1346fs) rs1064796415
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.4110C>A (p.Cys1370Ter) rs886041552
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.4160C>T (p.Ala1387Val) rs397514672
NM_000088.4(COL1A1):c.4163T>C (p.Leu1388Pro) rs72656348
NM_000088.4(COL1A1):c.4171C>T (p.Gln1391Ter) rs2586486
NM_000088.4(COL1A1):c.4189G>T (p.Glu1397Ter) rs902407269
NM_000088.4(COL1A1):c.4238A>G (p.Asp1413Gly) rs2144531133
NM_000088.4(COL1A1):c.4239T>A (p.Asp1413Glu) rs754555549
NM_000088.4(COL1A1):c.423del (p.Gly142fs)
NM_000088.4(COL1A1):c.4247del (p.Thr1416fs) rs398122835
NM_000088.4(COL1A1):c.4248+1G>A rs111953130
NM_000088.4(COL1A1):c.4248+2T>C rs112274185
NM_000088.4(COL1A1):c.4291del (p.Thr1431fs) rs2144530119
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.472-1G>A rs72667020
NM_000088.4(COL1A1):c.472-1G>C rs72667020
NM_000088.4(COL1A1):c.472-1G>T rs72667020
NM_000088.4(COL1A1):c.472-2A>T rs72667019
NM_000088.4(COL1A1):c.481_499dup (p.Tyr167fs) rs1555574871
NM_000088.4(COL1A1):c.501T>A (p.Tyr167Ter) rs946705319
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>C 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.549del (p.Ser184fs) rs1907769451
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.572G>A (p.Gly191Asp) rs67828806
NM_000088.4(COL1A1):c.572G>C (p.Gly191Ala) rs67828806
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.580G>C (p.Gly194Arg) rs72667024
NM_000088.4(COL1A1):c.581G>A (p.Gly194Asp) rs2144587699
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+1G>A rs67364703
NM_000088.4(COL1A1):c.642+2T>A rs2144586769
NM_000088.4(COL1A1):c.643-2A>G rs886042602
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.65_70del (p.Gly22_Gln23del) rs1114167409
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.671G>T (p.Gly224Val) rs1555574641
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.944_1123dup (p.Gly320_Lys352delinsValSerThrProGlyProLeuGlyAspProTer) rs2144577336
NM_000088.4(COL1A1):c.957+5G>A rs72645350
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.967G>T (p.Gly323Ter)
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.983_984dup (p.Gly329fs)
NM_000088.4(COL1A1):c.984del (p.Gly329fs) rs2144579869
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) rs72645357

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