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: 303
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HGVS dbSNP
COL1A1, 1-BP INS, 4088T
COL1A1, 562-BP DEL
COL1A1, 9-BP DEL
COL1A1, 9-BP DUP
COL1A1, EX15-16DUP
COL1A1, EX22DEL
COL1A1, IVS14DS, G-A, +5
COL1A1, IVS26DS, G-A, +1
NC_000017.10:g.(?_48272388)_(48277328_?)del
NC_000017.11:g.(?_50194147)_(50201244_?)dup
NG_007400.1:g.8207G>A rs72667022
NM_000088.3(COL1A1):c.1002+2T>C rs786205507
NM_000088.3(COL1A1):c.1012G>A (p.Gly338Ser) rs66664580
NM_000088.3(COL1A1):c.104-1G>T rs1555575456
NM_000088.3(COL1A1):c.1057-1G>A rs1555574177
NM_000088.3(COL1A1):c.1057G>A (p.Gly353Ser) rs66721653
NM_000088.3(COL1A1):c.1057G>T (p.Gly353Cys) rs66721653
NM_000088.3(COL1A1):c.1066G>T (p.Gly356Cys) rs72645365
NM_000088.3(COL1A1):c.1076G>A (p.Gly359Glu) rs1085307454
NM_000088.3(COL1A1):c.1081C>T (p.Arg361Ter) rs72645366
NM_000088.3(COL1A1):c.1086_1102del (p.Ser363Cysfs) rs1555574154
NM_000088.3(COL1A1):c.1099C>T (p.Gln367Ter) rs1555574158
NM_000088.3(COL1A1):c.1111G>A (p.Gly371Ser) rs72645368
NM_000088.3(COL1A1):c.111_117del (p.Ile38Alafs) rs1114167384
NM_000088.3(COL1A1):c.1121G>C (p.Gly374Ala) rs1555574143
NM_000088.3(COL1A1):c.1121delG (p.Gly374Alafs) rs1555574144
NM_000088.3(COL1A1):c.1127dup (p.Gly377Trpfs) rs72645369
NM_000088.3(COL1A1):c.1128delT (p.Gly377Alafs)
NM_000088.3(COL1A1):c.1192_1199delGGTGCCAA (p.Gly398Trpfs)
NM_000088.3(COL1A1):c.1200+1G>A rs72648320
NM_000088.3(COL1A1):c.1201G>A (p.Gly401Ser) rs72648322
NM_000088.3(COL1A1):c.120C>A (p.Cys40Ter)
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.1247delG (p.Gly416Alafs) rs1555574071
NM_000088.3(COL1A1):c.1261delC (p.Gln421Argfs) rs1114167385
NM_000088.3(COL1A1):c.1269delC (p.Gly424Alafs) rs1114167374
NM_000088.3(COL1A1):c.1292delG (p.Gly431Valfs) rs1114167375
NM_000088.3(COL1A1):c.1299+1G>A rs66490707
NM_000088.3(COL1A1):c.1299+1G>C
NM_000088.3(COL1A1):c.1300G>A (p.Gly434Ser) rs1555573969
NM_000088.3(COL1A1):c.1301G>T (p.Gly434Val) rs72648333
NM_000088.3(COL1A1):c.1301delG (p.Gly434Valfs) rs1555573968
NM_000088.3(COL1A1):c.1354-12G>A rs72648337
NM_000088.3(COL1A1):c.1369C>T (p.Gln457Ter) rs1228746935
NM_000088.3(COL1A1):c.1379delC (p.Pro460Leufs) rs1114167377
NM_000088.3(COL1A1):c.1382delG (p.Gly461Alafs) rs1555573897
NM_000088.3(COL1A1):c.1393G>T (p.Glu465Ter) rs865999256
NM_000088.3(COL1A1):c.1394delA (p.Glu465Glyfs)
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.1452del (p.Gly485Alafs)
NM_000088.3(COL1A1):c.1465G>T (p.Gly489Ter) rs138570309
NM_000088.3(COL1A1):c.148C>T (p.Arg50Ter) rs1555575425
NM_000088.3(COL1A1):c.1496_1497delAT (p.Asp499Glyfs) rs1555573789
NM_000088.3(COL1A1):c.1588G>A (p.Gly530Ser) rs67682641
NM_000088.3(COL1A1):c.1598G>A (p.Gly533Asp) rs72648356
NM_000088.3(COL1A1):c.1611delC (p.Lys538Argfs) rs1114167387
NM_000088.3(COL1A1):c.1614+1G>C
NM_000088.3(COL1A1):c.1615G>A (p.Gly539Ser) rs1555573699
NM_000088.3(COL1A1):c.1618delC (p.Leu540Terfs) rs1555573696
NM_000088.3(COL1A1):c.162delA (p.Lys54Asnfs) rs1131691607
NM_000088.3(COL1A1):c.1652del (p.Gly551Alafs) rs1555573684
NM_000088.3(COL1A1):c.1654A>T (p.Lys552Ter)
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.1696G>A (p.Gly566Arg) rs67416837
NM_000088.3(COL1A1):c.1703delC (p.Pro568Glnfs) rs1555573629
NM_000088.3(COL1A1):c.1705G>C (p.Gly569Arg) rs72648363
NM_000088.3(COL1A1):c.1720delC (p.Arg574Valfs) rs1555573621
NM_000088.3(COL1A1):c.1767+2T>G rs794727394
NM_000088.3(COL1A1):c.1772_1773delAG (p.Glu591Alafs) rs1555573484
NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser) rs66527965
NM_000088.3(COL1A1):c.1777G>T (p.Gly593Cys) rs66527965
NM_000088.3(COL1A1):c.1792C>T (p.Arg598Ter) rs72651614
NM_000088.3(COL1A1):c.1821+1G>A rs66555264
NM_000088.3(COL1A1):c.1845_1847delGGC (p.Glu615_Ala616delinsAsp)
NM_000088.3(COL1A1):c.1862_1865delCCCC (p.Pro621Leufs) rs72651620
NM_000088.3(COL1A1):c.1875+1G>C rs72651622
NM_000088.3(COL1A1):c.1875+5G>C rs886041866
NM_000088.3(COL1A1):c.1929+1G>A rs1555573313
NM_000088.3(COL1A1):c.1930-1G>A rs1555573288
NM_000088.3(COL1A1):c.1930G>A (p.Gly644Ser) rs1057524547
NM_000088.3(COL1A1):c.197_199delGCAinsTGTTGCC (p.Gly66Valfs) rs886041871
NM_000088.3(COL1A1):c.1A>G (p.Met1Val) rs1555575889
NM_000088.3(COL1A1):c.2010delT (p.Gly671Alafs) rs72651634
NM_000088.3(COL1A1):c.2028+2T>G rs72651635
NM_000088.3(COL1A1):c.2073delT (p.Gly692Valfs) rs72651640
NM_000088.3(COL1A1):c.2075G>C (p.Gly692Ala) rs1114167388
NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642
NM_000088.3(COL1A1):c.2091_2092del (p.Ala699Glnfs) rs1114167389
NM_000088.3(COL1A1):c.2110G>T (p.Gly704Cys) rs67368147
NM_000088.3(COL1A1):c.2119G>A (p.Gly707Ser) rs886041817
NM_000088.3(COL1A1):c.2127+2T>A
NM_000088.3(COL1A1):c.2128-1G>C rs67543897
NM_000088.3(COL1A1):c.212dup (p.Asp71Glufs)
NM_000088.3(COL1A1):c.2138G>A (p.Gly713Asp) rs1555573040
NM_000088.3(COL1A1):c.2139delT (p.Ala714Profs) rs1555573039
NM_000088.3(COL1A1):c.2155G>A (p.Gly719Ser) rs72651645
NM_000088.3(COL1A1):c.2156G>A (p.Gly719Asp) rs72651646
NM_000088.3(COL1A1):c.2161C>T (p.Gln721Ter) rs193922145
NM_000088.3(COL1A1):c.2164G>A (p.Gly722Ser)
NM_000088.3(COL1A1):c.2172delT (p.Gly725Alafs)
NM_000088.3(COL1A1):c.2210G>A (p.Gly737Asp) rs72651651
NM_000088.3(COL1A1):c.2217delA (p.Pro741Leufs) rs1555573004
NM_000088.3(COL1A1):c.2228G>T (p.Gly743Val) rs72651653
NM_000088.3(COL1A1):c.2235+1G>A rs1114167390
NM_000088.3(COL1A1):c.2291G>T (p.Gly764Val) rs72651657
NM_000088.3(COL1A1):c.2298_2299delTGinsCA (p.Gly767Ser) rs1555572863
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.2335G>A (p.Gly779Ser) rs72651661
NM_000088.3(COL1A1):c.2343+1G>A rs1114167378
NM_000088.3(COL1A1):c.2344-1G>A
NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.3(COL1A1):c.2408G>T (p.Gly803Val) rs1555572756
NM_000088.3(COL1A1):c.2424_2425insCG (p.Gly809Argfs)
NM_000088.3(COL1A1):c.2424delC (p.Gly809Alafs)
NM_000088.3(COL1A1):c.2424dup (p.Gly809Argfs) rs1114167391
NM_000088.3(COL1A1):c.2444G>T (p.Gly815Val) rs66929517
NM_000088.3(COL1A1):c.2450delC (p.Pro817Leufs) rs193922149
NM_000088.3(COL1A1):c.2461G>A (p.Gly821Ser) rs67693970
NM_000088.3(COL1A1):c.2484_2510dup (p.Gly836_Asp837insGluProGlyAspAlaGlyAlaLysGly) rs1555572656
NM_000088.3(COL1A1):c.2515G>A (p.Gly839Ser) rs72653131
NM_000088.3(COL1A1):c.2523delT (p.Gly842Alafs)
NM_000088.3(COL1A1):c.2525delG (p.Gly842Alafs) rs1114167392
NM_000088.3(COL1A1):c.2533G>A (p.Gly845Arg) rs72653136
NM_000088.3(COL1A1):c.2534G>C (p.Gly845Ala) rs1555572640
NM_000088.3(COL1A1):c.2549delC (p.Pro850Leufs) rs1114167379
NM_000088.3(COL1A1):c.2550delT (p.Gly851Alafs) rs1114167380
NM_000088.3(COL1A1):c.2552G>A (p.Gly851Asp) rs72653137
NM_000088.3(COL1A1):c.2560G>C (p.Gly854Arg)
NM_000088.3(COL1A1):c.2596G>A (p.Gly866Ser) rs67445413
NM_000088.3(COL1A1):c.2605G>T (p.Gly869Cys) rs72653143
NM_000088.3(COL1A1):c.2615G>T (p.Gly872Val) rs1555572537
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+3_2667+6del rs1114167393
NM_000088.3(COL1A1):c.2668-1G>A rs1114167394
NM_000088.3(COL1A1):c.2684delC (p.Pro895Leufs) rs72653151
NM_000088.3(COL1A1):c.2684dup (p.Gly896Trpfs)
NM_000088.3(COL1A1):c.2685delT (p.Gly896Alafs) rs193922151
NM_000088.3(COL1A1):c.2686G>T (p.Gly896Cys) rs72653152
NM_000088.3(COL1A1):c.2775delT (p.Gly926Valfs) rs878853274
NM_000088.3(COL1A1):c.2776G>T (p.Gly926Cys) rs72653154
NM_000088.3(COL1A1):c.2783_2788delCTGGCCinsTGGCG (p.Pro928Leufs) rs1555572456
NM_000088.3(COL1A1):c.2784delT (p.Gly929Alafs) rs72653155
NM_000088.3(COL1A1):c.2881delG (p.Val961Serfs) rs1114167381
NM_000088.3(COL1A1):c.2908_2911delAGAG (p.Arg970Alafs) rs1555572401
NM_000088.3(COL1A1):c.2934delC (p.Ser979Leufs) rs1114167395
NM_000088.3(COL1A1):c.2939G>T (p.Gly980Val) rs72653166
NM_000088.3(COL1A1):c.2991delT (p.Gly998Valfs) rs886042603
NM_000088.3(COL1A1):c.2T>C (p.Met1Thr)
NM_000088.3(COL1A1):c.3008delC (p.Pro1003Leufs)
NM_000088.3(COL1A1):c.3026delC (p.Pro1009Leufs) rs1114167396
NM_000088.3(COL1A1):c.3028G>A (p.Gly1010Ser) rs72653169
NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170
NM_000088.3(COL1A1):c.3045+1G>A rs1114167382
NM_000088.3(COL1A1):c.3046G>A (p.Gly1016Arg) rs1555572331
NM_000088.3(COL1A1):c.3061G>T (p.Glu1021Ter) rs139593707
NM_000088.3(COL1A1):c.3064G>A (p.Gly1022Ser) rs66523073
NM_000088.3(COL1A1):c.3065G>C (p.Gly1022Ala) rs67771061
NM_000088.3(COL1A1):c.3065G>T (p.Gly1022Val) rs67771061
NM_000088.3(COL1A1):c.3073G>A (p.Gly1025Arg) rs72653172
NM_000088.3(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.3(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.3(COL1A1):c.3121_3157del (p.Ala1042Leufs)
NM_000088.3(COL1A1):c.3123delC (p.Ala1042Leufs) rs886039693
NM_000088.3(COL1A1):c.3131_3133delCCCinsT (p.Pro1044Leufs)
NM_000088.3(COL1A1):c.3150_3158delTCCTGGTGC (p.Ala1053_Gly1055del) rs74315111
NM_000088.3(COL1A1):c.3150_3158dupTCCTGGTGC (p.Gly1055_Pro1056insAlaProGly) rs74315111
NM_000088.3(COL1A1):c.3157_3170delGCCCCTGGCCCCGT (p.Ala1053Trpfs) rs1555572249
NM_000088.3(COL1A1):c.3162delT (p.Gly1055Alafs) rs72654794
NM_000088.3(COL1A1):c.3168delC (p.Val1057Leufs) rs1555572254
NM_000088.3(COL1A1):c.3182G>A (p.Gly1061Asp) rs72654797
NM_000088.3(COL1A1):c.3188_3190delGTGins13 (p.?)
NM_000088.3(COL1A1):c.3207+1G>A rs1555572239
NM_000088.3(COL1A1):c.3207+1G>C rs1555572239
NM_000088.3(COL1A1):c.3207+1_3207+2delGT rs1064796200
NM_000088.3(COL1A1):c.3208G>A (p.Gly1070Ser) rs1057518221
NM_000088.3(COL1A1):c.3225delC (p.Gly1076Valfs)
NM_000088.3(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.3(COL1A1):c.3233_3236del (p.Val1078Alafs) rs1114167398
NM_000088.3(COL1A1):c.3235G>A (p.Gly1079Ser) rs72654802
NM_000088.3(COL1A1):c.3244G>T (p.Gly1082Cys) rs72656303
NM_000088.3(COL1A1):c.3270delA (p.Gly1091Alafs) rs1555572125
NM_000088.3(COL1A1):c.3271G>A (p.Gly1091Ser) rs72656306
NM_000088.3(COL1A1):c.3283_3284dup (p.Asp1095Glufs) rs1555572121
NM_000088.3(COL1A1):c.3285dup (p.Lys1096Glnfs) rs1555572120
NM_000088.3(COL1A1):c.3301G>T (p.Glu1101Ter) rs867628651
NM_000088.3(COL1A1):c.333+2T>C rs72667012
NM_000088.3(COL1A1):c.334-9A>G
NM_000088.3(COL1A1):c.3360delT (p.Gly1121Alafs) rs1260429820
NM_000088.3(COL1A1):c.3379G>T (p.Gly1127Cys) rs1555572024
NM_000088.3(COL1A1):c.3406G>A (p.Gly1136Ser) rs1555572015
NM_000088.3(COL1A1):c.3415G>A (p.Gly1139Ser) rs886041904
NM_000088.3(COL1A1):c.3416G>A (p.Gly1139Asp) rs1064796499
NM_000088.3(COL1A1):c.3421C>T (p.Arg1141Ter) rs72656314
NM_000088.3(COL1A1):c.3424-6C>G rs370865189
NM_000088.3(COL1A1):c.3431dup (p.Gly1145Trpfs) rs1555571942
NM_000088.3(COL1A1):c.3443G>A (p.Gly1148Asp) rs1131692320
NM_000088.3(COL1A1):c.3452G>T (p.Gly1151Val) rs72656321
NM_000088.3(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000088.3(COL1A1):c.3495delT (p.Gly1166Valfs) rs1555571916
NM_000088.3(COL1A1):c.3496G>T (p.Gly1166Cys) rs72656324
NM_000088.3(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.3(COL1A1):c.3531+1G>A
NM_000088.3(COL1A1):c.3540dup (p.Gly1181Argfs) rs1555571874
NM_000088.3(COL1A1):c.3541G>A (p.Gly1181Ser) rs72656330
NM_000088.3(COL1A1):c.3551G>T (p.Gly1184Val) rs72656331
NM_000088.3(COL1A1):c.3559G>A (p.Gly1187Ser) rs72656332
NM_000088.3(COL1A1):c.3566dup (p.Gly1190Trpfs)
NM_000088.3(COL1A1):c.3567delT (p.Gly1190Valfs) rs886042286
NM_000088.3(COL1A1):c.3593delT (p.Phe1198Serfs)
NM_000088.3(COL1A1):c.3607C>T (p.Gln1203Ter) rs1114167399
NM_000088.3(COL1A1):c.3641delG (p.Arg1214Profs)
NM_000088.3(COL1A1):c.3647A>G (p.Tyr1216Cys) rs1555571849
NM_000088.3(COL1A1):c.3652G>C (p.Ala1218Pro) rs72656337
NM_000088.3(COL1A1):c.3655G>A (p.Asp1219Asn) rs72656338
NM_000088.3(COL1A1):c.3748_3752dup (p.Ser1251Argfs) rs1114167400
NM_000088.3(COL1A1):c.3788delA (p.Lys1263Argfs) rs1114167401
NM_000088.3(COL1A1):c.3790A>G (p.Met1264Val) rs72656340
NM_000088.3(COL1A1):c.3815G>T (p.Gly1272Val) rs1114167402
NM_000088.3(COL1A1):c.3825G>A (p.Trp1275Ter) rs1555571766
NM_000088.3(COL1A1):c.386dup (p.Gly130Trpfs) rs72667014
NM_000088.3(COL1A1):c.387delT (p.Gly130Alafs) rs1555575086
NM_000088.3(COL1A1):c.3897C>G (p.Cys1299Trp) rs34940368
NM_000088.3(COL1A1):c.3936G>A (p.Trp1312Ter) rs72656343
NM_000088.3(COL1A1):c.3936G>T (p.Trp1312Cys) rs72656343
NM_000088.3(COL1A1):c.3939C>A (p.Tyr1313Ter) rs886042609
NM_000088.3(COL1A1):c.3G>A (p.Met1Ile)
NM_000088.3(COL1A1):c.4035delT (p.Ala1346Profs) rs1064796415
NM_000088.3(COL1A1):c.4090C>T (p.Gln1364Ter) rs1555571647
NM_000088.3(COL1A1):c.4110C>A (p.Cys1370Ter) rs886041552
NM_000088.3(COL1A1):c.4160C>T (p.Ala1387Val) rs397514672
NM_000088.3(COL1A1):c.4239T>A (p.Asp1413Glu) rs754555549
NM_000088.3(COL1A1):c.4247del (p.Thr1416Argfs) rs398122835
NM_000088.3(COL1A1):c.4292C>T (p.Thr1431Ile) rs1114167403
NM_000088.3(COL1A1):c.4321_4327dup (p.Ala1443Glyfs) rs1555571529
NM_000088.3(COL1A1):c.4329_4332dup (p.Leu1445Profs) rs1114167405
NM_000088.3(COL1A1):c.432dup (p.Gly145Argfs) rs72667016
NM_000088.3(COL1A1):c.4332dup (p.Asp1446Glyfs) rs1114167405
NM_000088.3(COL1A1):c.4358_4362del (p.Glu1453Glyfs) rs72656352
NM_000088.3(COL1A1):c.4386delC (p.Phe1463Serfs) rs1114167406
NM_000088.3(COL1A1):c.4391T>C (p.Leu1464Pro) rs72656353
NM_000088.3(COL1A1):c.458dup (p.Gly154Trpfs) rs1114167407
NM_000088.3(COL1A1):c.472-1G>A
NM_000088.3(COL1A1):c.472-1G>C rs72667020
NM_000088.3(COL1A1):c.472-1G>T rs72667020
NM_000088.3(COL1A1):c.472-2A>T
NM_000088.3(COL1A1):c.481_499dup (p.Tyr167Serfs) rs1555574871
NM_000088.3(COL1A1):c.501T>A (p.Tyr167Ter) rs946705319
NM_000088.3(COL1A1):c.563G>A (p.Gly188Asp) rs1114167408
NM_000088.3(COL1A1):c.563_564delGTinsA (p.Gly188Aspfs) rs1555574802
NM_000088.3(COL1A1):c.571G>A (p.Gly191Ser)
NM_000088.3(COL1A1):c.572G>A (p.Gly191Asp) rs67828806
NM_000088.3(COL1A1):c.572G>C (p.Gly191Ala) rs67828806
NM_000088.3(COL1A1):c.572delG (p.Gly191Alafs)
NM_000088.3(COL1A1):c.579delT (p.Gly194Valfs) 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.642+1G>A
NM_000088.3(COL1A1):c.643-2A>G rs886042602
NM_000088.3(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_000088.3(COL1A1):c.65_70del (p.Gly22_Gln23del) rs1114167409
NM_000088.3(COL1A1):c.661G>T (p.Gly221Cys) rs72667037
NM_000088.3(COL1A1):c.671G>T (p.Gly224Val) rs1555574641
NM_000088.3(COL1A1):c.678delT (p.Gly227Glufs) rs1555574638
NM_000088.3(COL1A1):c.697-1G>A
NM_000088.3(COL1A1):c.697-1G>C
NM_000088.3(COL1A1):c.731_732insC (p.Gly245Trpfs) rs1555574553
NM_000088.3(COL1A1):c.751-1G>A rs1555574516
NM_000088.3(COL1A1):c.751G>T (p.Gly251Cys) rs72645317
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.761G>A (p.Gly254Glu) rs72645320
NM_000088.3(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.3(COL1A1):c.770delG (p.Gly257Glufs) rs1555574497
NM_000088.3(COL1A1):c.787G>A (p.Gly263Arg) rs72645323
NM_000088.3(COL1A1):c.801_802delCA (p.His267Glnfs)
NM_000088.3(COL1A1):c.802A>T (p.Arg268Ter)
NM_000088.3(COL1A1):c.804+1G>C rs1057518930
NM_000088.3(COL1A1):c.805-36_810del rs1555574450
NM_000088.3(COL1A1):c.814G>T (p.Gly272Cys) rs72645331
NM_000088.3(COL1A1):c.824G>A (p.Gly275Asp) rs72645333
NM_000088.3(COL1A1):c.841G>A (p.Gly281Ser) rs72645334
NM_000088.3(COL1A1):c.841_848del (p.Gly281Trpfs)
NM_000088.3(COL1A1):c.851G>C (p.Gly284Ala) rs72645337
NM_000088.3(COL1A1):c.862G>T (p.Glu288Ter) rs72645341
NM_000088.3(COL1A1):c.868G>C (p.Gly290Arg) rs1555574410
NM_000088.3(COL1A1):c.878G>A (p.Gly293Asp)
NM_000088.3(COL1A1):c.896delG (p.Gly299Valfs) rs886042473
NM_000088.3(COL1A1):c.903+1G>A rs1298621011
NM_000088.3(COL1A1):c.91C>T (p.Gln31Ter) rs794726873
NM_000088.3(COL1A1):c.920_926delCTGGTGAinsTGAGAGGT (p.Pro307Leufs)
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.3(COL1A1):c.962dup (p.Arg322Serfs) rs1555574319
NM_000088.3(COL1A1):c.972_978dup (p.Ala327Terfs) rs1114167411
NM_000088.3(COL1A1):c.977G>A (p.Gly326Asp) rs72645356
NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) rs72645357

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