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.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.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>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>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.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.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>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.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.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.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>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.1492del (p.Ala498fs)
|
rs1598295794
|
|
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.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.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.162_168dup (p.Pro57fs)
|
|
|
NM_000088.4(COL1A1):c.1631del (p.Pro544fs)
|
|
|
NM_000088.4(COL1A1):c.1646del (p.Pro549fs)
|
rs1907351704
|
|
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.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.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.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.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+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.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.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>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.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.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.2156G>A (p.Gly719Asp)
|
rs72651646
|
|
NM_000088.4(COL1A1):c.2159del (p.Ser720fs)
|
rs2144558687
|
|
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.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.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.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>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.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.2444G>T (p.Gly815Val)
|
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.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.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.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>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.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.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.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.2939G>T (p.Gly980Val)
|
rs72653166
|
|
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.299-2A>G
|
|
|
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.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.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.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.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.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+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.3244G>T (p.Gly1082Cys)
|
rs72656303
|
|
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.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.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.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.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.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.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.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.3655G>A (p.Asp1219Asn)
|
rs72656338
|
|
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.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.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.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>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.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.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>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.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.580G>C (p.Gly194Arg)
|
rs72667024
|
|
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.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.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.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
|
|