ClinVar Miner

List of variants in gene COL1A1 studied for Osteogenesis imperfecta type I

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 384
Download table as spreadsheet
HGVS dbSNP
COL1A1, IVS26DS, G-A, +1
NC_000017.10:g.(?_48262843)_(48277749_?)dup
NC_000017.10:g.(?_48264825)_(48278894_?)dup
NC_000017.10:g.(?_48264825)_(48280990_?)dup
NC_000017.10:g.(?_48271508)_(48278605_?)dup
NC_000017.10:g.(?_48272388)_(48277328_?)del
NC_000017.10:g.(?_48275502)_(48275885_?)del
NM_000088.3(COL1A1):c.1000C>T (p.Pro334Ser)
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1002+2T>C rs786205507
NM_000088.3(COL1A1):c.1005T>A (p.Gly335=) rs375914028
NM_000088.3(COL1A1):c.1012G>A (p.Gly338Ser) rs66664580
NM_000088.3(COL1A1):c.103+5G>A rs1555575835
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1057-1G>A rs1555574177
NM_000088.3(COL1A1):c.1057-3C>G rs1555574180
NM_000088.3(COL1A1):c.1066G>T (p.Gly356Cys) rs72645365
NM_000088.3(COL1A1):c.1081C>T (p.Arg361Ter) rs72645366
NM_000088.3(COL1A1):c.1086_1102del (p.Ser363fs) rs1555574154
NM_000088.3(COL1A1):c.1099C>T (p.Gln367Ter) rs1555574158
NM_000088.3(COL1A1):c.1103G>C (p.Gly368Ala) rs1555574151
NM_000088.3(COL1A1):c.1111G>A (p.Gly371Ser) rs72645368
NM_000088.3(COL1A1):c.111_117del (p.Ile38fs) rs1114167384
NM_000088.3(COL1A1):c.1121del (p.Gly374fs) rs1555574144
NM_000088.3(COL1A1):c.1127dup (p.Gly377fs) rs72645369
NM_000088.3(COL1A1):c.1128del (p.Gly377fs) rs72645370
NM_000088.3(COL1A1):c.1132C>G (p.Pro378Ala) rs764381074
NM_000088.3(COL1A1):c.1138G>A (p.Gly380Ser)
NM_000088.3(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104
NM_000088.3(COL1A1):c.1192G>T (p.Gly398Cys)
NM_000088.3(COL1A1):c.1192_1199del (p.Gly398fs) rs1567760736
NM_000088.3(COL1A1):c.1200+2dup rs1555574113
NM_000088.3(COL1A1):c.1200+5G>A
NM_000088.3(COL1A1):c.1237G>C (p.Gly413Arg) rs1567760604
NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.3(COL1A1):c.1247G>A (p.Gly416Asp) rs1135401953
NM_000088.3(COL1A1):c.1247del (p.Gly416fs) rs1555574071
NM_000088.3(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.3(COL1A1):c.125A>G (p.Gln42Arg)
NM_000088.3(COL1A1):c.1261C>T (p.Gln421Ter)
NM_000088.3(COL1A1):c.1261del (p.Gln421fs) rs1114167385
NM_000088.3(COL1A1):c.1269C>T (p.Pro423=) rs149301001
NM_000088.3(COL1A1):c.1269del (p.Gly424fs) rs1114167374
NM_000088.3(COL1A1):c.126G>C (p.Gln42His) rs1555575436
NM_000088.3(COL1A1):c.1273G>A (p.Gly425Ser)
NM_000088.3(COL1A1):c.1292del (p.Gly431fs) rs1114167375
NM_000088.3(COL1A1):c.1299+1G>A rs66490707
NM_000088.3(COL1A1):c.1299+1G>C
NM_000088.3(COL1A1):c.1299+5G>A rs193922139
NM_000088.3(COL1A1):c.1299C>T (p.Ser433=)
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1354-12G>A rs72648337
NM_000088.3(COL1A1):c.1369C>T (p.Gln457Ter) rs1228746935
NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.3(COL1A1):c.1379del (p.Pro460fs) rs1114167377
NM_000088.3(COL1A1):c.1382del (p.Gly461fs) rs1555573897
NM_000088.3(COL1A1):c.1393G>T (p.Glu465Ter) rs865999256
NM_000088.3(COL1A1):c.1394del (p.Glu465fs) rs1567760123
NM_000088.3(COL1A1):c.1405C>T (p.Arg469Ter) rs762428889
NM_000088.3(COL1A1):c.1414C>T (p.Arg472Ter) rs72648343
NM_000088.3(COL1A1):c.1423C>A (p.Pro475Thr) rs1394634754
NM_000088.3(COL1A1):c.144T>A (p.His48Gln)
NM_000088.3(COL1A1):c.1461+7G>A rs374268357
NM_000088.3(COL1A1):c.1462G>A (p.Gly488Ser) rs1328384458
NM_000088.3(COL1A1):c.1516-1G>A rs72648352
NM_000088.3(COL1A1):c.1587C>T (p.Pro529=) rs113437353
NM_000088.3(COL1A1):c.1588G>A (p.Gly530Ser) rs67682641
NM_000088.3(COL1A1):c.1611del (p.Lys538fs) rs1114167387
NM_000088.3(COL1A1):c.1614+2T>A
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.1654A>T (p.Lys552Ter) rs1567759402
NM_000088.3(COL1A1):c.1678G>A (p.Gly560Ser) rs67507747
NM_000088.3(COL1A1):c.1678G>T (p.Gly560Cys) rs67507747
NM_000088.3(COL1A1):c.1689T>C (p.Gly563=) rs1555573640
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000088.3(COL1A1):c.1693C>A (p.Pro565Thr)
NM_000088.3(COL1A1):c.1703del (p.Pro568fs) rs1555573629
NM_000088.3(COL1A1):c.1770_1771AG[1] (p.Glu591fs) rs1555573484
NM_000088.3(COL1A1):c.177G>T (p.Arg59=) rs1057297
NM_000088.3(COL1A1):c.1783G>T (p.Ala595Ser)
NM_000088.3(COL1A1):c.1792C>T (p.Arg598Ter) rs72651614
NM_000088.3(COL1A1):c.1793G>A (p.Arg598Gln) rs757147791
NM_000088.3(COL1A1):c.1803C>T (p.Pro601=) rs148275339
NM_000088.3(COL1A1):c.1821+1G>A rs66555264
NM_000088.3(COL1A1):c.1821+1G>C
NM_000088.3(COL1A1):c.1821C>T (p.Val607=) rs41316667
NM_000088.3(COL1A1):c.1862_1865del (p.Pro621fs) rs72651620
NM_000088.3(COL1A1):c.1865_1866delinsG (p.Pro622fs)
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1876-8C>T rs1329959391
NM_000088.3(COL1A1):c.1881C>T (p.Pro627=) rs550265501
NM_000088.3(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465
NM_000088.3(COL1A1):c.1929+1G>A rs1555573313
NM_000088.3(COL1A1):c.1929+4A>C rs376244140
NM_000088.3(COL1A1):c.1930-1G>A rs1555573288
NM_000088.3(COL1A1):c.1983+9G>C rs201091992
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.1A>G (p.Met1Val) rs1555575889
NM_000088.3(COL1A1):c.2010del (p.Gly671fs) rs72651634
NM_000088.3(COL1A1):c.2028+2T>G rs72651635
NM_000088.3(COL1A1):c.2032G>A (p.Glu678Lys) rs1213427451
NM_000088.3(COL1A1):c.2053C>T (p.Arg685Cys)
NM_000088.3(COL1A1):c.2073del (p.Gly692fs) rs72651640
NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642
NM_000088.3(COL1A1):c.2091_2092del (p.Ala699fs) rs1114167389
NM_000088.3(COL1A1):c.2107C>G (p.Pro703Ala)
NM_000088.3(COL1A1):c.2112C>A (p.Gly704=) rs768785416
NM_000088.3(COL1A1):c.2115C>T (p.Asn705=) rs41316673
NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246
NM_000088.3(COL1A1):c.2127+1G>A
NM_000088.3(COL1A1):c.2127+2T>A
NM_000088.3(COL1A1):c.2128-1G>C rs67543897
NM_000088.3(COL1A1):c.212dup (p.Asp71fs) rs1567764832
NM_000088.3(COL1A1):c.2139del (p.Ala714fs) rs1555573039
NM_000088.3(COL1A1):c.2172del (p.Gly725fs) rs1567757138
NM_000088.3(COL1A1):c.2175C>T (p.Gly725=) rs35017779
NM_000088.3(COL1A1):c.2181G>A (p.Gln727=) rs777571745
NM_000088.3(COL1A1):c.2197C>T (p.Arg733Cys) rs1567757112
NM_000088.3(COL1A1):c.2203G>T (p.Ala735Ser) rs1555573014
NM_000088.3(COL1A1):c.2216C>T (p.Pro739Leu)
NM_000088.3(COL1A1):c.2217del (p.Pro741fs) rs1555573004
NM_000088.3(COL1A1):c.2253del (p.Gly752fs)
NM_000088.3(COL1A1):c.228C>G (p.Asp76Glu) rs1314366641
NM_000088.3(COL1A1):c.2299G>A (p.Gly767Ser) rs72651658
NM_000088.3(COL1A1):c.229G>T (p.Glu77Ter) rs753683126
NM_000088.3(COL1A1):c.2333C>T (p.Pro778Leu)
NM_000088.3(COL1A1):c.2343+1G>A rs1114167378
NM_000088.3(COL1A1):c.2344-1G>A rs1567756567
NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.3(COL1A1):c.2387G>A (p.Arg796His)
NM_000088.3(COL1A1):c.2400A>G (p.Gly800=) rs1555572759
NM_000088.3(COL1A1):c.2405G>A (p.Arg802His)
NM_000088.3(COL1A1):c.2424_2425insCG (p.Gly809fs) rs1567756357
NM_000088.3(COL1A1):c.2424del (p.Gly809fs) rs1114167391
NM_000088.3(COL1A1):c.2424dup (p.Gly809fs) rs1114167391
NM_000088.3(COL1A1):c.2428C>T (p.Pro810Ser) rs1555572744
NM_000088.3(COL1A1):c.2449C>A (p.Pro817Thr)
NM_000088.3(COL1A1):c.2450del (p.Pro817fs) rs193922149
NM_000088.3(COL1A1):c.2450dup (p.Gly818fs)
NM_000088.3(COL1A1):c.2452-1G>C
NM_000088.3(COL1A1):c.2461G>A (p.Gly821Ser) rs67693970
NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214
NM_000088.3(COL1A1):c.2508C>T (p.Gly836=) rs200620805
NM_000088.3(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.3(COL1A1):c.2525del (p.Gly842fs) rs1114167392
NM_000088.3(COL1A1):c.2534G>C (p.Gly845Ala) rs1555572640
NM_000088.3(COL1A1):c.2539G>A (p.Ala847Thr) rs369455732
NM_000088.3(COL1A1):c.2549del (p.Pro850fs) rs1114167379
NM_000088.3(COL1A1):c.2550del (p.Gly851fs) rs1114167380
NM_000088.3(COL1A1):c.2560G>C (p.Gly854Arg)
NM_000088.3(COL1A1):c.2573C>G (p.Ala858Gly) rs550053089
NM_000088.3(COL1A1):c.2586del (p.Gly863fs)
NM_000088.3(COL1A1):c.2595C>G (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.2601C>T (p.Ser867=) rs747037929
NM_000088.3(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520
NM_000088.3(COL1A1):c.260C>T (p.Pro87Leu)
NM_000088.3(COL1A1):c.262G>T (p.Glu88Ter) rs1555575370
NM_000088.3(COL1A1):c.2641G>A (p.Gly881Ser) rs765659555
NM_000088.3(COL1A1):c.2644C>T (p.Arg882Ter) rs72653147
NM_000088.3(COL1A1):c.2667+1G>A
NM_000088.3(COL1A1):c.2667+3_2667+6del rs1114167393
NM_000088.3(COL1A1):c.2668-1G>A rs1114167394
NM_000088.3(COL1A1):c.2684del (p.Pro895fs) rs72653151
NM_000088.3(COL1A1):c.2684dup (p.Gly896fs) rs72653151
NM_000088.3(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.3(COL1A1):c.2717dup (p.Lys907fs)
NM_000088.3(COL1A1):c.2769_2777TCCCCCTGG[3] (p.925_927PGP[3]) rs1555572458
NM_000088.3(COL1A1):c.2773C>T (p.Pro925Ser) rs772929903
NM_000088.3(COL1A1):c.2775del (p.Gly926fs) rs878853274
NM_000088.3(COL1A1):c.2783_2788delinsTGGCG (p.Pro928fs) rs1555572456
NM_000088.3(COL1A1):c.2784del (p.Gly929fs) rs72653155
NM_000088.3(COL1A1):c.2806T>C (p.Ser936Pro) rs1555572452
NM_000088.3(COL1A1):c.2810C>A (p.Pro937His) rs1555572447
NM_000088.3(COL1A1):c.2830-1G>A
NM_000088.3(COL1A1):c.2845C>T (p.Pro949Ser) rs1434279534
NM_000088.3(COL1A1):c.2866G>A (p.Gly956Arg) rs797045033
NM_000088.3(COL1A1):c.2881del (p.Val961fs) rs1114167381
NM_000088.3(COL1A1):c.2904_2905AG[2] (p.Arg970fs) rs1555572401
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000088.3(COL1A1):c.2934del (p.Ser979fs) rs1114167395
NM_000088.3(COL1A1):c.2944C>A (p.Pro982Thr) rs141117382
NM_000088.3(COL1A1):c.298+6G>T
NM_000088.3(COL1A1):c.298+7C>A rs41317345
NM_000088.3(COL1A1):c.299-3T>G
NM_000088.3(COL1A1):c.2T>C (p.Met1Thr) rs1567766338
NM_000088.3(COL1A1):c.3002del (p.Gly1001fs)
NM_000088.3(COL1A1):c.3008del (p.Pro1003fs) rs72653168
NM_000088.3(COL1A1):c.3026del (p.Pro1009fs) rs1114167396
NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170
NM_000088.3(COL1A1):c.3045+1G>A rs1114167382
NM_000088.3(COL1A1):c.3045+3G>A rs41316695
NM_000088.3(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.3(COL1A1):c.3046-20CT[9] rs138425306
NM_000088.3(COL1A1):c.3046-2A>T
NM_000088.3(COL1A1):c.3055G>T (p.Gly1019Cys)
NM_000088.3(COL1A1):c.3060C>T (p.Ala1020=) rs751239116
NM_000088.3(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707
NM_000088.3(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.3(COL1A1):c.308C>T (p.Thr103Ile)
NM_000088.3(COL1A1):c.3094G>A (p.Ala1032Thr) rs374095521
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3100-10T>A
NM_000088.3(COL1A1):c.3102T>C (p.Gly1034=) rs147743501
NM_000088.3(COL1A1):c.3114dup (p.Thr1039fs)
NM_000088.3(COL1A1):c.3123C>T (p.Pro1041=) rs145608939
NM_000088.3(COL1A1):c.3124_3160del (p.Ala1042fs) rs1567754589
NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203
NM_000088.3(COL1A1):c.3183C>T (p.Gly1061=)
NM_000088.3(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799
NM_000088.3(COL1A1):c.3207+1G>A rs1555572239
NM_000088.3(COL1A1):c.3207+1G>C rs1555572239
NM_000088.3(COL1A1):c.3223G>A (p.Ala1075Thr) rs1800215
NM_000088.3(COL1A1):c.3225del (p.Gly1076fs) rs1567754277
NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556
NM_000088.3(COL1A1):c.3233_3236del (p.Val1078fs) rs1114167398
NM_000088.3(COL1A1):c.3235G>A (p.Gly1079Ser) rs72654802
NM_000088.3(COL1A1):c.3243T>C (p.Val1081=) rs1800217
NM_000088.3(COL1A1):c.3245del (p.Gly1082fs) rs1555572161
NM_000088.3(COL1A1):c.3258C>T (p.Pro1086=) rs200319927
NM_000088.3(COL1A1):c.3261+2dup
NM_000088.3(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307
NM_000088.3(COL1A1):c.3283_3284dup (p.Asp1095fs) rs1555572121
NM_000088.3(COL1A1):c.3285dup (p.Lys1096fs) rs1555572120
NM_000088.3(COL1A1):c.333+2T>C rs72667012
NM_000088.3(COL1A1):c.333+3A>C rs1555575205
NM_000088.3(COL1A1):c.334-1G>A
NM_000088.3(COL1A1):c.334-5C>A rs115997082
NM_000088.3(COL1A1):c.334-9A>G rs1567764387
NM_000088.3(COL1A1):c.3369+5G>C rs1555572075
NM_000088.3(COL1A1):c.3389G>A (p.Gly1130Asp) rs1567753699
NM_000088.3(COL1A1):c.3407G>C (p.Gly1136Ala) rs1555572013
NM_000088.3(COL1A1):c.3421C>T (p.Arg1141Ter) rs72656314
NM_000088.3(COL1A1):c.3423A>C (p.Arg1141=) rs148737409
NM_000088.3(COL1A1):c.3424-6C>A rs370865189
NM_000088.3(COL1A1):c.3424-6C>G rs370865189
NM_000088.3(COL1A1):c.3431dup (p.Gly1145fs) rs1555571942
NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=) rs1800218
NM_000088.3(COL1A1):c.3468C>T (p.Asn1156=) rs149980662
NM_000088.3(COL1A1):c.3487G>A (p.Gly1163Arg) rs1567753329
NM_000088.3(COL1A1):c.3495del (p.Gly1166fs) rs1555571916
NM_000088.3(COL1A1):c.3496G>A (p.Gly1166Ser)
NM_000088.3(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.3(COL1A1):c.3531+10C>A rs41316721
NM_000088.3(COL1A1):c.3531+1G>A
NM_000088.3(COL1A1):c.3532-8C>T rs1555571885
NM_000088.3(COL1A1):c.3540dup (p.Gly1181fs) rs1555571874
NM_000088.3(COL1A1):c.3566C>A (p.Pro1189His) rs1555571859
NM_000088.3(COL1A1):c.3566dup (p.Gly1190fs) rs1567753046
NM_000088.3(COL1A1):c.3567del (p.Gly1190fs) rs886042286
NM_000088.3(COL1A1):c.3578G>A (p.Ser1193Asn) rs1567753025
NM_000088.3(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473
NM_000088.3(COL1A1):c.3593del (p.Phe1198fs) rs1567752998
NM_000088.3(COL1A1):c.35T>G (p.Leu12Arg) rs1555575857
NM_000088.3(COL1A1):c.3607C>T (p.Gln1203Ter) rs1114167399
NM_000088.3(COL1A1):c.3641del (p.Arg1214fs) rs1567752926
NM_000088.3(COL1A1):c.3647A>G (p.Tyr1216Cys) rs1555571849
NM_000088.3(COL1A1):c.3680G>A (p.Arg1227His) rs543809032
NM_000088.3(COL1A1):c.3688G>A (p.Glu1230Lys) rs376564562
NM_000088.3(COL1A1):c.3726C>T (p.Ile1242=) rs768572265
NM_000088.3(COL1A1):c.3748_3752dup (p.Ser1251fs) rs1114167400
NM_000088.3(COL1A1):c.3754C>A (p.Arg1252Ser) rs781614679
NM_000088.3(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434
NM_000088.3(COL1A1):c.3788del (p.Lys1263fs) rs1114167401
NM_000088.3(COL1A1):c.3790A>G (p.Met1264Val) rs72656340
NM_000088.3(COL1A1):c.3802G>A (p.Asp1268Asn)
NM_000088.3(COL1A1):c.3815G>T (p.Gly1272Val) rs1114167402
NM_000088.3(COL1A1):c.3815_3819delGAGAG
NM_000088.3(COL1A1):c.3820_3821dup (p.Trp1275fs)
NM_000088.3(COL1A1):c.3825G>A (p.Trp1275Ter) rs1555571766
NM_000088.3(COL1A1):c.3842G>T (p.Gly1281Val)
NM_000088.3(COL1A1):c.3846C>T (p.Cys1282=)
NM_000088.3(COL1A1):c.3849C>A (p.Asn1283Lys) rs199911681
NM_000088.3(COL1A1):c.386dup (p.Gly130fs) rs72667014
NM_000088.3(COL1A1):c.387del (p.Gly130fs) rs1555575086
NM_000088.3(COL1A1):c.3893C>A (p.Thr1298Asn) rs1555571755
NM_000088.3(COL1A1):c.3895T>A (p.Cys1299Ser) rs1567752383
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000088.3(COL1A1):c.3935G>A (p.Trp1312Ter) rs886039880
NM_000088.3(COL1A1):c.3936G>A (p.Trp1312Ter) rs72656343
NM_000088.3(COL1A1):c.3945C>T (p.Ser1315=) rs766059440
NM_000088.3(COL1A1):c.3965G>A (p.Arg1322Lys) rs138544681
NM_000088.3(COL1A1):c.3994G>A (p.Asp1332Asn)
NM_000088.3(COL1A1):c.3996T>C (p.Asp1332=) rs1555571730
NM_000088.3(COL1A1):c.3G>A (p.Met1Ile) rs1567766329
NM_000088.3(COL1A1):c.4005+5G>A rs778417218
NM_000088.3(COL1A1):c.4017C>A (p.Gly1339=) rs201256042
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.4040A>G (p.Asp1347Gly)
NM_000088.3(COL1A1):c.4066C>A (p.Arg1356Ser)
NM_000088.3(COL1A1):c.4081G>T (p.Glu1361Ter)
NM_000088.3(COL1A1):c.4090C>T (p.Gln1364Ter) rs1555571647
NM_000088.3(COL1A1):c.4113G>A (p.Lys1371=) rs41316723
NM_000088.3(COL1A1):c.4148A>G (p.Asn1383Ser) rs1555571631
NM_000088.3(COL1A1):c.4168C>T (p.Leu1390Phe)
NM_000088.3(COL1A1):c.4178C>T (p.Ser1393Phe) rs774210351
NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=) rs1800219
NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928
NM_000088.3(COL1A1):c.4196G>A (p.Arg1399His) rs146035171
NM_000088.3(COL1A1):c.419_420delinsCC (p.Leu140Pro) rs1555575068
NM_000088.3(COL1A1):c.4239T>A (p.Asp1413Glu) rs754555549
NM_000088.3(COL1A1):c.4248G>A (p.Thr1416=)
NM_000088.3(COL1A1):c.424G>A (p.Gly142Arg) rs1567764128
NM_000088.3(COL1A1):c.4257C>T (p.Thr1419=) rs144134990
NM_000088.3(COL1A1):c.427C>T (p.Pro143Ser)
NM_000088.3(COL1A1):c.4281T>C (p.Ile1427=) rs41316725
NM_000088.3(COL1A1):c.429_437CCCCGGACC[1] (p.143_145PPG[3]) rs769867566
NM_000088.3(COL1A1):c.4321_4327dup (p.Ala1443fs) rs1555571529
NM_000088.3(COL1A1):c.4328C>T (p.Ala1443Val) rs1131692326
NM_000088.3(COL1A1):c.4329_4332dup (p.Leu1445fs) rs1114167405
NM_000088.3(COL1A1):c.432dup (p.Gly145fs) rs72667016
NM_000088.3(COL1A1):c.4332dup (p.Asp1446fs) rs1114167405
NM_000088.3(COL1A1):c.4358_4362del rs72656352
NM_000088.3(COL1A1):c.4369G>A (p.Asp1457Asn)
NM_000088.3(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594
NM_000088.3(COL1A1):c.4376G>C (p.Gly1459Ala)
NM_000088.3(COL1A1):c.4386del (p.Phe1463fs) rs1114167406
NM_000088.3(COL1A1):c.441_458del (p.143_145PPG[2])
NM_000088.3(COL1A1):c.441del (p.Gly148fs)
NM_000088.3(COL1A1):c.458del (p.Pro153fs)
NM_000088.3(COL1A1):c.458dup (p.Gly154fs) rs1114167407
NM_000088.3(COL1A1):c.471+5G>T rs1555575015
NM_000088.3(COL1A1):c.481_499dup (p.Tyr167fs) rs1555574871
NM_000088.3(COL1A1):c.528C>T (p.Ser176=) rs748856187
NM_000088.3(COL1A1):c.543+10C>T
NM_000088.3(COL1A1):c.543+4A>G rs1555574855
NM_000088.3(COL1A1):c.557C>T (p.Pro186Leu) rs1555574809
NM_000088.3(COL1A1):c.563G>A (p.Gly188Asp) rs1114167408
NM_000088.3(COL1A1):c.563_564delinsA (p.Gly188fs) rs1555574802
NM_000088.3(COL1A1):c.571G>A (p.Gly191Ser) rs1567763451
NM_000088.3(COL1A1):c.572del (p.Gly191fs) rs1567763447
NM_000088.3(COL1A1):c.578dup (p.Gly194fs)
NM_000088.3(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.3(COL1A1):c.589G>T (p.Gly197Cys) rs8179178
NM_000088.3(COL1A1):c.599G>T (p.Gly200Val) rs72667029
NM_000088.3(COL1A1):c.608G>T (p.Gly203Val) rs72667031
NM_000088.3(COL1A1):c.612C>T (p.Pro204=) rs138078016
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000088.3(COL1A1):c.655C>T (p.Pro219Ser)
NM_000088.3(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_000088.3(COL1A1):c.661G>A (p.Gly221Ser)
NM_000088.3(COL1A1):c.671G>T (p.Gly224Val) rs1555574641
NM_000088.3(COL1A1):c.678del (p.Gly227fs) rs1555574638
NM_000088.3(COL1A1):c.679G>A (p.Gly227Arg) rs1567763007
NM_000088.3(COL1A1):c.697-1G>A
NM_000088.3(COL1A1):c.697-1G>C
NM_000088.3(COL1A1):c.731_732insC (p.Gly245fs) rs1555574553
NM_000088.3(COL1A1):c.740C>T (p.Pro247Leu) rs199626372
NM_000088.3(COL1A1):c.751-1G>A rs1555574516
NM_000088.3(COL1A1):c.751-2A>G rs193922158
NM_000088.3(COL1A1):c.752G>A (p.Gly251Asp) rs1114167410
NM_000088.3(COL1A1):c.757C>T (p.Arg253Ter) rs72645318
NM_000088.3(COL1A1):c.765G>A (p.Leu255=) rs373529600
NM_000088.3(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.3(COL1A1):c.770G>A (p.Gly257Glu) rs1555574496
NM_000088.3(COL1A1):c.770del (p.Gly257fs) rs1555574497
NM_000088.3(COL1A1):c.779G>T (p.Gly260Val)
NM_000088.3(COL1A1):c.77G>A (p.Gly26Asp)
NM_000088.3(COL1A1):c.796G>C (p.Gly266Arg) rs1555574493
NM_000088.3(COL1A1):c.799_802del (p.His267fs)
NM_000088.3(COL1A1):c.802A>T (p.Arg268Ter) rs1567762257
NM_000088.3(COL1A1):c.805G>C (p.Gly269Arg) rs72645328
NM_000088.3(COL1A1):c.814G>T (p.Gly272Cys) rs72645331
NM_000088.3(COL1A1):c.823G>T (p.Gly275Cys)
NM_000088.3(COL1A1):c.841G>A (p.Gly281Ser) rs72645334
NM_000088.3(COL1A1):c.841_848del (p.Gly281fs) rs1567761950
NM_000088.3(COL1A1):c.851G>C (p.Gly284Ala) rs72645337
NM_000088.3(COL1A1):c.853C>G (p.Pro285Ala) rs1567761937
NM_000088.3(COL1A1):c.862G>T (p.Glu288Ter) rs72645341
NM_000088.3(COL1A1):c.903+1G>A rs1298621011
NM_000088.3(COL1A1):c.903+2T>A
NM_000088.3(COL1A1):c.903+3G>A
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000088.3(COL1A1):c.920_926delinsTGAGAGGT (p.Pro307fs) rs1567761649
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.3(COL1A1):c.937C>T (p.Pro313Ser)
NM_000088.3(COL1A1):c.962dup (p.Arg322fs) rs1555574319
NM_000088.3(COL1A1):c.972T>C (p.Asn324=) rs565335839
NM_000088.3(COL1A1):c.972_978dup (p.Ala327Ter) rs1114167411
NM_000088.3(COL1A1):c.977G>A (p.Gly326Asp) rs72645356
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000088.3(COL1A1):c.[1601T>A];[1608_1614+25del]

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.