ClinVar Miner

List of variants studied for Osteogenesis imperfecta type I

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2131
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
NM_000088.4(COL1A1):c.2830-33C>G rs2586489 0.99956
NM_000088.4(COL1A1):c.3223= (p.Ala1075=) rs1800215 0.97286
NM_000088.4(COL1A1):c.2028+39C>T rs2857396 0.85962
NM_000088.4(COL1A1):c.1984-41G>A rs2586490 0.70223
NM_000088.4(COL1A1):c.3261+31T>C rs2586488 0.66062
NM_000088.4(COL1A1):c.299-20C>G rs2256835 0.54824
NM_000088.4(COL1A1):c.4249-12G>A rs2249492 0.52233
NM_000088.4(COL1A1):c.2560-18C>G rs2075559 0.50861
NM_000088.4(COL1A1):c.588+33T>C rs35231764 0.22664
NM_000088.4(COL1A1):c.3815-35T>C rs2277632 0.18865
NM_000088.4(COL1A1):c.104-441G>T rs1800012 0.13897
NM_000088.4(COL1A1):c.1930-14T>C rs2696247 0.13425
NM_000088.4(COL1A1):c.642+18A>C rs16948767 0.12150
NM_000088.4(COL1A1):c.859-14T>G rs17639446 0.07746
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=) rs1800218 0.04610
NM_000088.4(COL1A1):c.177G>T (p.Arg59=) rs1057297 0.04003
NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr) rs1800215 0.02714
NM_000088.3(COL1A1):c.-161C>T rs113647555 0.02290
NM_000088.4(COL1A1):c.298+7C>A rs41317345 0.01333
NM_000088.4(COL1A1):c.2175C>T (p.Gly725=) rs35017779 0.01114
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00788
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00578
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00480
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_000088.4(COL1A1):c.750+12G>T rs79480112 0.00434
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=) rs41316725 0.00431
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=) rs144134990 0.00245
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
NM_000088.4(COL1A1):c.4006-33G>A rs201920224 0.00190
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_000088.4(COL1A1):c.1668+16C>T rs41316659 0.00160
NM_000088.4(COL1A1):c.1057-20T>C rs73338527 0.00146
NM_000088.4(COL1A1):c.2236-17C>G rs193922146 0.00137
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000088.4(COL1A1):c.642+11T>C rs376087528 0.00127
NM_000088.4(COL1A1):c.2613+14G>A rs41316685 0.00101
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00087
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=) rs148659814 0.00085
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys) rs138544681 0.00069
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_000088.4(COL1A1):c.1587C>T (p.Pro529=) rs113437353 0.00061
NM_000088.4(COL1A1):c.3571C>G (p.Pro1191Ala) rs142570406 0.00059
NM_000088.4(COL1A1):c.1461+7G>A rs374268357 0.00054
NM_000088.4(COL1A1):c.3309C>T (p.Gly1103=) rs142312753 0.00054
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=) rs148737409 0.00054
NM_000088.4(COL1A1):c.3531+14C>T rs199766533 0.00053
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=) rs147743501 0.00044
NM_000088.4(COL1A1):c.3424-6C>A rs370865189 0.00044
NM_000088.4(COL1A1):c.1984-7C>G rs376886366 0.00043
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) rs145608939 0.00042
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000088.4(COL1A1):c.2716G>A (p.Gly906Ser) rs145446512 0.00041
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala) rs764381074 0.00038
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) rs41317351 0.00038
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu) rs199626372 0.00038
NM_000088.4(COL1A1):c.2668-12A>G rs200355573 0.00037
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
NM_000088.4(COL1A1):c.3815-18T>C rs373624129 0.00034
NM_000088.4(COL1A1):c.588+16G>A rs191715075 0.00032
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000088.4(COL1A1):c.1876-10C>T rs370308401 0.00031
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214 0.00031
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_000088.4(COL1A1):c.2414C>T (p.Pro805Leu) rs145307365 0.00029
NM_000088.4(COL1A1):c.3876C>T (p.Asn1292=) rs143049736 0.00029
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=) rs41316673 0.00026
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.3849C>A (p.Asn1283Lys) rs199911681 0.00023
NM_000088.4(COL1A1):c.1638C>T (p.Ser546=) rs146450504 0.00022
NM_000088.4(COL1A1):c.1461+16C>T rs41316648 0.00021
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000088.4(COL1A1):c.957+10C>A rs376179885 0.00020
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 0.00019
NM_000088.4(COL1A1):c.2466A>G (p.Gln822=) rs551706871 0.00019
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00019
NM_000088.4(COL1A1):c.3100-6C>T rs377123276 0.00019
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=) rs151328660 0.00018
NM_000088.4(COL1A1):c.2236-9T>C rs375248255 0.00018
NM_000088.4(COL1A1):c.3815-12G>T rs201066018 0.00017
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.1615-14C>T rs190098788 0.00016
NM_000088.4(COL1A1):c.1206T>G (p.Ala402=) rs141411256 0.00014
NM_000088.4(COL1A1):c.1347A>G (p.Gly449=) rs757237837 0.00014
NM_000088.4(COL1A1):c.2944C>A (p.Pro982Thr) rs141117382 0.00014
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707 0.00014
NM_000088.4(COL1A1):c.3255C>T (p.Gly1085=) rs369670483 0.00014
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=) rs776387246 0.00013
NM_000088.4(COL1A1):c.1354-13C>T rs372034810 0.00013
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000088.4(COL1A1):c.2127+12G>A rs778814970 0.00013
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_000088.4(COL1A1):c.1156-18C>T rs1227183168 0.00012
NM_000088.4(COL1A1):c.2973T>C (p.Ser991=) rs568904847 0.00012
NM_000088.4(COL1A1):c.4030G>A (p.Asp1344Asn) rs371547661 0.00012
NM_000088.4(COL1A1):c.144T>A (p.His48Gln) rs374065372 0.00011
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His) rs193922150 0.00011
NM_000088.4(COL1A1):c.2613+13C>T rs368380161 0.00011
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
NM_000088.4(COL1A1):c.1300-9C>T rs780311548 0.00010
NM_000088.4(COL1A1):c.2532C>T (p.Ala844=) rs374158703 0.00010
NM_000088.4(COL1A1):c.3465C>T (p.Leu1155=) rs368746726 0.00010
NM_000088.4(COL1A1):c.391C>A (p.Arg131=) rs776611767 0.00010
NM_000088.4(COL1A1):c.1200+15A>G rs371312641 0.00009
NM_000088.4(COL1A1):c.1783G>T (p.Ala595Ser) rs376047287 0.00009
NM_000088.4(COL1A1):c.2069C>T (p.Pro690Leu) rs760258050 0.00009
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799 0.00009
NM_000088.4(COL1A1):c.3531+4T>C rs145251615 0.00009
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594 0.00009
NM_000088.4(COL1A1):c.4376G>C (p.Gly1459Ala) rs767250343 0.00009
NM_000088.4(COL1A1):c.471+14C>G rs774281966 0.00009
NM_000088.4(COL1A1):c.588+15C>T rs371817394 0.00009
NM_000088.4(COL1A1):c.858+18C>T rs368700070 0.00009
NM_000088.4(COL1A1):c.858+24G>A rs532741992 0.00009
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) rs369699409 0.00008
NM_000088.4(COL1A1):c.3124G>A (p.Ala1042Thr) rs746939680 0.00008
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000088.4(COL1A1):c.1405C>A (p.Arg469=) rs762428889 0.00007
NM_000088.4(COL1A1):c.2539G>A (p.Ala847Thr) rs369455732 0.00007
NM_000088.4(COL1A1):c.3532-3C>T rs369283493 0.00007
NM_000088.4(COL1A1):c.543+10C>T rs376260945 0.00007
NM_000088.4(COL1A1):c.768C>T (p.Pro256=) rs199891984 0.00007
NM_000088.4(COL1A1):c.993C>T (p.Ala331=) rs147277057 0.00007
NM_000088.4(COL1A1):c.1155+12C>T rs774034198 0.00006
NM_000088.4(COL1A1):c.1515+17G>A rs778395663 0.00006
NM_000088.4(COL1A1):c.1674C>T (p.Pro558=) rs578167693 0.00006
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) rs375695940 0.00006
NM_000088.4(COL1A1):c.1983+16C>T rs536312322 0.00006
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246 0.00006
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=) rs200188855 0.00006
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124 0.00006
NM_000088.4(COL1A1):c.2288G>A (p.Arg763His) rs144820445 0.00006
NM_000088.4(COL1A1):c.2405G>A (p.Arg802His) rs556916354 0.00006
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=) rs200620805 0.00006
NM_000088.4(COL1A1):c.2998A>G (p.Met1000Val) rs777265470 0.00006
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473 0.00006
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His) rs774001209 0.00006
NM_000088.4(COL1A1):c.3978C>T (p.Phe1326=) rs200145743 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000088.4(COL1A1):c.4017C>T (p.Gly1339=) rs201256042 0.00006
NM_000088.4(COL1A1):c.4224C>T (p.Tyr1408=) rs369138260 0.00006
NM_000088.4(COL1A1):c.528C>T (p.Ser176=) rs748856187 0.00006
NM_000088.4(COL1A1):c.589-20T>C rs370564344 0.00006
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu) rs763409550 0.00006
NM_000088.4(COL1A1):c.1200+5G>A rs374322003 0.00005
NM_000088.4(COL1A1):c.1236T>C (p.Pro412=) rs560859897 0.00005
NM_000088.4(COL1A1):c.1641T>G (p.Pro547=) rs775965149 0.00005
NM_000088.4(COL1A1):c.2028+18G>A rs745829877 0.00005
NM_000088.4(COL1A1):c.2154C>T (p.Pro718=) rs550291465 0.00005
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala) rs772929903 0.00005
NM_000088.4(COL1A1):c.3754C>T (p.Arg1252Cys) rs781614679 0.00005
NM_000088.4(COL1A1):c.4249-7A>C rs201450194 0.00005
NM_000088.4(COL1A1):c.690A>G (p.Gly230=) rs776786081 0.00005
NM_000088.4(COL1A1):c.1109G>A (p.Arg370His) rs750756697 0.00004
NM_000088.4(COL1A1):c.125A>G (p.Gln42Arg) rs367643097 0.00004
NM_000088.4(COL1A1):c.1270G>A (p.Gly424Ser) rs750427423 0.00004
NM_000088.4(COL1A1):c.1515+16G>A rs745582193 0.00004
NM_000088.4(COL1A1):c.1515+20G>A rs373728987 0.00004
NM_000088.4(COL1A1):c.1721G>A (p.Arg574His) rs763788602 0.00004
NM_000088.4(COL1A1):c.1785T>A (p.Ala595=) rs780217716 0.00004
NM_000088.4(COL1A1):c.1929+4A>C rs376244140 0.00004
NM_000088.4(COL1A1):c.1930-5T>C rs762377921 0.00004
NM_000088.4(COL1A1):c.2090G>A (p.Arg697Gln) rs202221716 0.00004
NM_000088.4(COL1A1):c.2235+15C>T rs754442679 0.00004
NM_000088.4(COL1A1):c.2355T>A (p.Gly785=) rs137937544 0.00004
NM_000088.4(COL1A1):c.2559+17T>G rs543348331 0.00004
NM_000088.4(COL1A1):c.2601C>T (p.Ser867=) rs747037929 0.00004
NM_000088.4(COL1A1):c.298+16G>A rs372943378 0.00004
NM_000088.4(COL1A1):c.299-9G>T rs373041336 0.00004
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr) rs372029024 0.00004
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000088.4(COL1A1):c.3588C>T (p.Phe1196=) rs748086214 0.00004
NM_000088.4(COL1A1):c.3630C>T (p.His1210=) rs745320719 0.00004
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000088.4(COL1A1):c.3846C>T (p.Cys1282=) rs772750234 0.00004
NM_000088.4(COL1A1):c.3944G>T (p.Ser1315Ile) rs1391247648 0.00004
NM_000088.4(COL1A1):c.395A>G (p.Asp132Gly) rs746847841 0.00004
NM_000088.4(COL1A1):c.3979G>A (p.Gly1327Ser) rs147104425 0.00004
NM_000088.4(COL1A1):c.4009G>A (p.Glu1337Lys) rs760040029 0.00004
NM_000088.4(COL1A1):c.401T>A (p.Ile134Asn) rs771647906 0.00004
NM_000088.4(COL1A1):c.4038C>T (p.Ala1346=) rs768810493 0.00004
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His) rs149820303 0.00004
NM_000088.4(COL1A1):c.408A>G (p.Gly136=) rs533127847 0.00004
NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe) rs768808806 0.00004
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) rs146035171 0.00004
NM_000088.4(COL1A1):c.4214G>A (p.Arg1405His) rs770826227 0.00004
NM_000088.4(COL1A1):c.4228G>A (p.Val1410Ile) rs769619568 0.00004
NM_000088.4(COL1A1):c.428C>G (p.Pro143Arg) rs941273260 0.00004
NM_000088.4(COL1A1):c.45C>T (p.Ala15=) rs140295356 0.00004
NM_000088.4(COL1A1):c.504T>G (p.Asp168Glu) rs368246367 0.00004
NM_000088.4(COL1A1):c.544-4A>G rs369898579 0.00004
NM_000088.4(COL1A1):c.589-18T>G rs775985897 0.00004
NM_000088.4(COL1A1):c.655C>T (p.Pro219Ser) rs868168330 0.00004
NM_000088.4(COL1A1):c.1018G>A (p.Ala340Thr) rs773343407 0.00003
NM_000088.4(COL1A1):c.1056+7C>A rs1055536504 0.00003
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=) rs765154255 0.00003
NM_000088.4(COL1A1):c.1412C>G (p.Ala471Gly) rs978893604 0.00003
NM_000088.4(COL1A1):c.1491C>T (p.Gly497=) rs773286290 0.00003
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His) rs780422688 0.00003
NM_000088.4(COL1A1):c.1776C>T (p.Pro592=) rs777014529 0.00003
NM_000088.4(COL1A1):c.1888G>A (p.Glu630Lys) rs775106436 0.00003
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys) rs753683126 0.00003
NM_000088.4(COL1A1):c.2452-19G>A rs762402176 0.00003
NM_000088.4(COL1A1):c.2779C>T (p.Pro927Ser) rs756537503 0.00003
NM_000088.4(COL1A1):c.2910A>G (p.Arg970=) rs763850566 0.00003
NM_000088.4(COL1A1):c.2937+8C>T rs1266313465 0.00003
NM_000088.4(COL1A1):c.2945C>T (p.Pro982Leu) rs940298764 0.00003
NM_000088.4(COL1A1):c.298+6G>T rs753705753 0.00003
NM_000088.4(COL1A1):c.3000G>C (p.Met1000Ile) rs769158560 0.00003
NM_000088.4(COL1A1):c.3022C>T (p.Pro1008Ser) rs1199013401 0.00003
NM_000088.4(COL1A1):c.3045+3G>A rs41316695 0.00003
NM_000088.4(COL1A1):c.3093C>T (p.Gly1031=) rs753135498 0.00003
NM_000088.4(COL1A1):c.3237C>A (p.Gly1079=) rs374853330 0.00003
NM_000088.4(COL1A1):c.3251G>A (p.Arg1084His) rs746341018 0.00003
NM_000088.4(COL1A1):c.3258C>T (p.Pro1086=) rs200319927 0.00003
NM_000088.4(COL1A1):c.325G>C (p.Gly109Arg) rs762315953 0.00003
NM_000088.4(COL1A1):c.3532-13C>T rs369694934 0.00003
NM_000088.4(COL1A1):c.3665A>G (p.Asn1222Ser) rs751784955 0.00003
NM_000088.4(COL1A1):c.36C>T (p.Leu12=) rs748155900 0.00003
NM_000088.4(COL1A1):c.370-9C>T rs773193800 0.00003
NM_000088.4(COL1A1):c.3727G>A (p.Glu1243Lys) rs373777457 0.00003
NM_000088.4(COL1A1):c.3769C>T (p.Arg1257Cys) rs368295399 0.00003
NM_000088.4(COL1A1):c.3814+19C>T rs780452624 0.00003
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=) rs756297543 0.00003
NM_000088.4(COL1A1):c.4066C>T (p.Arg1356Cys) rs1341595487 0.00003
NM_000088.4(COL1A1):c.4080C>T (p.Thr1360=) rs753536372 0.00003
NM_000088.4(COL1A1):c.4182C>T (p.Asn1394=) rs755763693 0.00003
NM_000088.4(COL1A1):c.4321G>A (p.Asp1441Asn) rs72656351 0.00003
NM_000088.4(COL1A1):c.4369G>A (p.Asp1457Asn) rs761895918 0.00003
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=) rs543735501 0.00002
NM_000088.4(COL1A1):c.1062A>T (p.Glu354Asp) rs778733293 0.00002
NM_000088.4(COL1A1):c.1299C>T (p.Ser433=) rs776229611 0.00002
NM_000088.4(COL1A1):c.1395G>A (p.Glu465=) rs1308484700 0.00002
NM_000088.4(COL1A1):c.1557C>T (p.Pro519=) rs753993330 0.00002
NM_000088.4(COL1A1):c.1675G>A (p.Ala559Thr) rs558173513 0.00002
NM_000088.4(COL1A1):c.1694C>T (p.Pro565Leu) rs764989002 0.00002
NM_000088.4(COL1A1):c.1793G>A (p.Arg598Gln) rs757147791 0.00002
NM_000088.4(COL1A1):c.1861C>A (p.Pro621Thr) rs764186905 0.00002
NM_000088.4(COL1A1):c.1881C>T (p.Pro627=) rs550265501 0.00002
NM_000088.4(COL1A1):c.2128-16C>G rs763565986 0.00002
NM_000088.4(COL1A1):c.2276A>C (p.Lys759Thr) rs370916785 0.00002
NM_000088.4(COL1A1):c.2301C>T (p.Gly767=) rs773279512 0.00002
NM_000088.4(COL1A1):c.2451T>C (p.Pro817=) rs374465457 0.00002
NM_000088.4(COL1A1):c.2452-20C>T rs1165467743 0.00002
NM_000088.4(COL1A1):c.2608C>G (p.Pro870Ala) rs771918127 0.00002
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser) rs756337302 0.00002
NM_000088.4(COL1A1):c.2938-7C>T rs757272365 0.00002
NM_000088.4(COL1A1):c.3106C>T (p.Arg1036Cys) rs72653177 0.00002
NM_000088.4(COL1A1):c.3222C>T (p.Pro1074=) rs764134427 0.00002
NM_000088.4(COL1A1):c.323C>T (p.Thr108Ile) rs765837515 0.00002
NM_000088.4(COL1A1):c.3262-9C>G rs777883502 0.00002
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307 0.00002
NM_000088.4(COL1A1):c.336A>T (p.Gly112=) rs749946056 0.00002
NM_000088.4(COL1A1):c.3468C>T (p.Asn1156=) rs149980662 0.00002
NM_000088.4(COL1A1):c.3532-12C>T rs200458986 0.00002
NM_000088.4(COL1A1):c.3535C>A (p.Pro1179Thr) rs779767483 0.00002
NM_000088.4(COL1A1):c.3595A>G (p.Ser1199Gly) rs776355079 0.00002
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His) rs543809032 0.00002
NM_000088.4(COL1A1):c.3687C>T (p.Leu1229=) rs765353412 0.00002
NM_000088.4(COL1A1):c.3814+11G>A rs769202328 0.00002
NM_000088.4(COL1A1):c.4041T>C (p.Asp1347=) rs745797859 0.00002
NM_000088.4(COL1A1):c.4188C>T (p.Ile1396=) rs780908692 0.00002
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=) rs757759451 0.00002
NM_000088.4(COL1A1):c.4248G>A (p.Thr1416=) rs746565111 0.00002
NM_000088.4(COL1A1):c.427C>T (p.Pro143Ser) rs570526849 0.00002
NM_000088.4(COL1A1):c.4302C>T (p.Thr1434=) rs1467776318 0.00002
NM_000088.4(COL1A1):c.4325T>C (p.Val1442Ala) rs1321766630 0.00002
NM_000088.4(COL1A1):c.4387T>C (p.Phe1463Leu) rs577626107 0.00002
NM_000088.4(COL1A1):c.549C>T (p.Pro183=) rs1250249821 0.00002
NM_000088.4(COL1A1):c.642+8C>T rs1003565350 0.00002
NM_000088.4(COL1A1):c.696+6T>C rs747108049 0.00002
NM_000088.4(COL1A1):c.918G>T (p.Leu306=) rs769021257 0.00002
NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser) rs66664580 0.00001
NM_000088.4(COL1A1):c.103+16T>G rs548069648 0.00001
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe) rs72645362 0.00001
NM_000088.4(COL1A1):c.1056+3G>A rs367802613 0.00001
NM_000088.4(COL1A1):c.1072C>G (p.Gln358Glu) rs749024135 0.00001
NM_000088.4(COL1A1):c.1087T>C (p.Ser363Pro) rs1207868159 0.00001
NM_000088.4(COL1A1):c.1149C>T (p.Gly383=) rs1291096544 0.00001
NM_000088.4(COL1A1):c.1153G>A (p.Ala385Thr) rs548048698 0.00001
NM_000088.4(COL1A1):c.1161C>A (p.Asn387Lys) rs899337697 0.00001
NM_000088.4(COL1A1):c.1200+10C>T rs1490273189 0.00001
NM_000088.4(COL1A1):c.1200+9C>G rs767579512 0.00001
NM_000088.4(COL1A1):c.1201-12T>C rs1475476779 0.00001
NM_000088.4(COL1A1):c.1207C>G (p.Pro403Ala) rs762809403 0.00001
NM_000088.4(COL1A1):c.1209T>C (p.Pro403=) rs200786825 0.00001
NM_000088.4(COL1A1):c.133C>G (p.Leu45Val) rs546629502 0.00001
NM_000088.4(COL1A1):c.1354-12G>A rs72648337 0.00001
NM_000088.4(COL1A1):c.1380T>A (p.Pro460=) rs1237735571 0.00001
NM_000088.4(COL1A1):c.1404G>A (p.Lys468=) rs1240489656 0.00001
NM_000088.4(COL1A1):c.1423C>A (p.Pro475Thr) rs1394634754 0.00001
NM_000088.4(COL1A1):c.1429C>G (p.Pro477Ala) rs1268011878 0.00001
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) rs1051473344 0.00001
NM_000088.4(COL1A1):c.1516-7C>T rs748830899 0.00001
NM_000088.4(COL1A1):c.1522G>A (p.Ala508Thr) rs752150906 0.00001
NM_000088.4(COL1A1):c.1540C>T (p.Pro514Ser) rs753739947 0.00001
NM_000088.4(COL1A1):c.156G>A (p.Val52=) rs1369140907 0.00001
NM_000088.4(COL1A1):c.1614+18C>T rs923054762 0.00001
NM_000088.4(COL1A1):c.1621A>G (p.Thr541Ala) rs766204229 0.00001
NM_000088.4(COL1A1):c.1644T>A (p.Gly548=) rs1312778967 0.00001
NM_000088.4(COL1A1):c.164C>A (p.Pro55His) rs771489142 0.00001
NM_000088.4(COL1A1):c.1669-17G>A rs367662814 0.00001
NM_000088.4(COL1A1):c.1677C>T (p.Ala559=) rs755073295 0.00001
NM_000088.4(COL1A1):c.1689T>C (p.Gly563=) rs1555573640 0.00001
NM_000088.4(COL1A1):c.1763C>A (p.Ala588Asp) rs771593907 0.00001
NM_000088.4(COL1A1):c.1764T>C (p.Ala588=) rs1800212 0.00001
NM_000088.4(COL1A1):c.1845G>T (p.Glu615Asp) rs769791947 0.00001
NM_000088.4(COL1A1):c.1875+3G>T rs138164489 0.00001
NM_000088.4(COL1A1):c.1876-3C>T rs989802421 0.00001
NM_000088.4(COL1A1):c.1876-8C>T rs1329959391 0.00001
NM_000088.4(COL1A1):c.1920C>T (p.Pro640=) rs745564892 0.00001
NM_000088.4(COL1A1):c.1929+17G>C rs1291997527 0.00001
NM_000088.4(COL1A1):c.1984-13C>A rs772638625 0.00001
NM_000088.4(COL1A1):c.2024C>A (p.Ala675Glu) rs1308244294 0.00001
NM_000088.4(COL1A1):c.2032G>A (p.Glu678Lys) rs1213427451 0.00001
NM_000088.4(COL1A1):c.2036G>C (p.Arg679Thr) rs972507105 0.00001
NM_000088.4(COL1A1):c.2049C>T (p.Gly683=) rs149352055 0.00001
NM_000088.4(COL1A1):c.2053C>T (p.Arg685Cys) rs764826942 0.00001
NM_000088.4(COL1A1):c.2054G>A (p.Arg685His) rs573132397 0.00001
NM_000088.4(COL1A1):c.2059G>A (p.Val687Met) rs553233250 0.00001
NM_000088.4(COL1A1):c.2072C>T (p.Pro691Leu) rs775055638 0.00001
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642 0.00001
NM_000088.4(COL1A1):c.2100C>T (p.Asn700=) rs201122145 0.00001
NM_000088.4(COL1A1):c.2112C>A (p.Gly704=) rs768785416 0.00001
NM_000088.4(COL1A1):c.2181G>A (p.Gln727=) rs777571745 0.00001
NM_000088.4(COL1A1):c.2204C>T (p.Ala735Val) rs990375606 0.00001
NM_000088.4(COL1A1):c.2216C>T (p.Pro739Leu) rs755786796 0.00001
NM_000088.4(COL1A1):c.2235+4A>C rs1382593990 0.00001
NM_000088.4(COL1A1):c.2274C>T (p.Gly758=) rs200111312 0.00001
NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser) rs72651658 0.00001
NM_000088.4(COL1A1):c.2333C>T (p.Pro778Leu) rs1181679779 0.00001
NM_000088.4(COL1A1):c.2343+18C>T rs1050837911 0.00001
NM_000088.4(COL1A1):c.2344-11C>T rs1352672171 0.00001
NM_000088.4(COL1A1):c.2357C>T (p.Pro786Leu) rs756537765 0.00001
NM_000088.4(COL1A1):c.2387G>A (p.Arg796His) rs72651662 0.00001
NM_000088.4(COL1A1):c.2397C>T (p.Pro799=) rs750493684 0.00001
NM_000088.4(COL1A1):c.2398-14T>A rs757350752 0.00001
NM_000088.4(COL1A1):c.23G>A (p.Arg8Gln) rs1196007286 0.00001
NM_000088.4(COL1A1):c.2404C>T (p.Arg802Cys) rs1459870410 0.00001
NM_000088.4(COL1A1):c.2445C>T (p.Gly815=) rs762075856 0.00001
NM_000088.4(COL1A1):c.2464C>G (p.Gln822Glu) rs72651668 0.00001
NM_000088.4(COL1A1):c.247G>A (p.Gly83Ser) rs763855013 0.00001
NM_000088.4(COL1A1):c.2481C>T (p.Gly827=) rs779002822 0.00001
NM_000088.4(COL1A1):c.2519C>T (p.Pro840Leu) rs748149807 0.00001
NM_000088.4(COL1A1):c.2538C>T (p.Pro846=) rs758123056 0.00001
NM_000088.4(COL1A1):c.2562T>C (p.Gly854=) rs763214118 0.00001
NM_000088.4(COL1A1):c.2572G>A (p.Ala858Thr) rs773428245 0.00001
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520 0.00001
NM_000088.4(COL1A1):c.2645G>A (p.Arg882Gln) rs754077452 0.00001
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=) rs779337831 0.00001
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=) rs746453576 0.00001
NM_000088.4(COL1A1):c.2829+20T>C rs372169804 0.00001
NM_000088.4(COL1A1):c.287C>T (p.Pro96Leu) rs747163212 0.00001
NM_000088.4(COL1A1):c.2883C>T (p.Val961=) rs761548060 0.00001
NM_000088.4(COL1A1):c.2981G>A (p.Arg994His) rs548928043 0.00001
NM_000088.4(COL1A1):c.3013T>C (p.Leu1005=) rs772060459 0.00001
NM_000088.4(COL1A1):c.3025C>T (p.Pro1009Ser) rs794727663 0.00001
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170 0.00001
NM_000088.4(COL1A1):c.3045+11C>T rs201349683 0.00001
NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=) rs751239116 0.00001
NM_000088.4(COL1A1):c.308C>T (p.Thr103Ile) rs369883704 0.00001
NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr) rs374095521 0.00001
NM_000088.4(COL1A1):c.3100-14G>C rs370574815 0.00001
NM_000088.4(COL1A1):c.3100-5G>A rs751822769 0.00001
NM_000088.4(COL1A1):c.3168C>T (p.Pro1056=) rs913216741 0.00001
NM_000088.4(COL1A1):c.3176C>T (p.Pro1059Leu) rs547798347 0.00001
NM_000088.4(COL1A1):c.3197G>A (p.Arg1066His) rs752075205 0.00001
NM_000088.4(COL1A1):c.3246C>T (p.Gly1082=) rs772906802 0.00001
NM_000088.4(COL1A1):c.324C>T (p.Thr108=) rs1193008069 0.00001
NM_000088.4(COL1A1):c.3261+10C>G rs752779091 0.00001
NM_000088.4(COL1A1):c.326G>A (p.Gly109Asp) rs372159426 0.00001
NM_000088.4(COL1A1):c.328G>A (p.Val110Ile) rs375823086 0.00001
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=) rs372044347 0.00001
NM_000088.4(COL1A1):c.334-4A>G rs200621584 0.00001
NM_000088.4(COL1A1):c.33C>T (p.Leu11=) rs1024499126 0.00001
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter) rs72656314 0.00001
NM_000088.4(COL1A1):c.3441T>C (p.Ala1147=) rs768896689 0.00001
NM_000088.4(COL1A1):c.3469G>A (p.Gly1157Ser) rs1278821174 0.00001
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=) rs370529603 0.00001
NM_000088.4(COL1A1):c.351T>C (p.Thr117=) rs576449536 0.00001
NM_000088.4(COL1A1):c.3529G>A (p.Val1177Ile) rs41316719 0.00001
NM_000088.4(COL1A1):c.3532-6G>A rs373386837 0.00001
NM_000088.4(COL1A1):c.3546T>C (p.Pro1182=) rs1403898020 0.00001
NM_000088.4(COL1A1):c.3552A>T (p.Gly1184=) rs774547182 0.00001
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala) rs766461654 0.00001
NM_000088.4(COL1A1):c.3565C>A (p.Pro1189Thr) rs1057518340 0.00001
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys) rs746671446 0.00001
NM_000088.4(COL1A1):c.3641G>A (p.Arg1214His) rs137987935 0.00001
NM_000088.4(COL1A1):c.3688G>A (p.Glu1230Lys) rs376564562 0.00001
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372 0.00001
NM_000088.4(COL1A1):c.3813T>A (p.Ser1271Arg) rs1341583755 0.00001
NM_000088.4(COL1A1):c.3815-10C>T rs770568983 0.00001
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val) rs918420911 0.00001
NM_000088.4(COL1A1):c.3865G>C (p.Val1289Leu) rs780472683 0.00001
NM_000088.4(COL1A1):c.3906C>T (p.Pro1302=) rs188887858 0.00001
NM_000088.4(COL1A1):c.393A>T (p.Arg131=) rs768576692 0.00001
NM_000088.4(COL1A1):c.3945C>T (p.Ser1315=) rs766059440 0.00001
NM_000088.4(COL1A1):c.3982G>A (p.Glu1328Lys) rs142128554 0.00001
NM_000088.4(COL1A1):c.3985A>T (p.Ser1329Cys) rs778077946 0.00001
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) rs754984293 0.00001
NM_000088.4(COL1A1):c.399C>T (p.Gly133=) rs775246452 0.00001
NM_000088.4(COL1A1):c.4008C>T (p.Phe1336=) rs763676384 0.00001
NM_000088.4(COL1A1):c.4040A>G (p.Asp1347Gly) rs772033648 0.00001
NM_000088.4(COL1A1):c.4120G>A (p.Val1374Met) rs954167907 0.00001
NM_000088.4(COL1A1):c.4174G>A (p.Gly1392Ser) rs377379528 0.00001
NM_000088.4(COL1A1):c.4176C>T (p.Gly1392=) rs745816283 0.00001
NM_000088.4(COL1A1):c.4192A>T (p.Ile1398Phe) rs754481870 0.00001
NM_000088.4(COL1A1):c.4195C>T (p.Arg1399Cys) rs762848021 0.00001
NM_000088.4(COL1A1):c.4200C>T (p.Ala1400=) rs764510425 0.00001
NM_000088.4(COL1A1):c.4227C>T (p.Ser1409=) rs552087944 0.00001
NM_000088.4(COL1A1):c.4249-13C>T rs1046359912 0.00001
NM_000088.4(COL1A1):c.4258G>A (p.Gly1420Arg) rs139388334 0.00001
NM_000088.4(COL1A1):c.430C>T (p.Pro144Ser) rs908422422 0.00001
NM_000088.4(COL1A1):c.4319T>C (p.Ile1440Thr) rs757911214 0.00001
NM_000088.4(COL1A1):c.4320C>T (p.Ile1440=) rs770326881 0.00001
NM_000088.4(COL1A1):c.4335_4336del (p.Asp1446fs) rs1906423537 0.00001
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133 0.00001
NM_000088.4(COL1A1):c.4368C>T (p.Phe1456=) rs765224053 0.00001
NM_000088.4(COL1A1):c.4373T>C (p.Val1458Ala) rs775026377 0.00001
NM_000088.4(COL1A1):c.441C>T (p.Pro147=) rs1156978524 0.00001
NM_000088.4(COL1A1):c.465C>T (p.Leu155=) rs1229801664 0.00001
NM_000088.4(COL1A1):c.471+6T>C rs1276599083 0.00001
NM_000088.4(COL1A1):c.472-4C>A rs753888456 0.00001
NM_000088.4(COL1A1):c.481C>T (p.Pro161Ser) rs764071315 0.00001
NM_000088.4(COL1A1):c.483C>G (p.Pro161=) rs1304069206 0.00001
NM_000088.4(COL1A1):c.497G>T (p.Gly166Val) rs372514953 0.00001
NM_000088.4(COL1A1):c.543+9G>A rs111549032 0.00001
NM_000088.4(COL1A1):c.61C>T (p.His21Tyr) rs777150332 0.00001
NM_000088.4(COL1A1):c.628G>A (p.Glu210Lys) rs766407680 0.00001
NM_000088.4(COL1A1):c.63C>T (p.His21=) rs536939800 0.00001
NM_000088.4(COL1A1):c.663T>C (p.Gly221=) rs770083936 0.00001
NM_000088.4(COL1A1):c.765G>A (p.Leu255=) rs373529600 0.00001
NM_000088.4(COL1A1):c.790A>T (p.Met264Leu) rs374947065 0.00001
NM_000088.4(COL1A1):c.804+18C>T rs754603674 0.00001
NM_000088.4(COL1A1):c.805-10C>T rs746606358 0.00001
NM_000088.4(COL1A1):c.835G>A (p.Asp279Asn) rs745367793 0.00001
NM_000088.4(COL1A1):c.859-5T>C rs771596805 0.00001
NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys) rs72645341 0.00001
NM_000088.4(COL1A1):c.903+3G>A rs748604968 0.00001
NM_000088.4(COL1A1):c.935G>A (p.Arg312His) rs930476771 0.00001
NM_000088.4(COL1A1):c.937C>T (p.Pro313Ser) rs1054020486 0.00001
NM_000088.4(COL1A1):c.945C>T (p.Ala315=) rs780242725 0.00001
NM_000088.4(COL1A1):c.958-9C>T rs1270507282 0.00001
NM_000088.4(COL1A1):c.964C>T (p.Arg322Cys) rs777644312 0.00001
NM_000088.4(COL1A1):c.979G>T (p.Ala327Ser) rs769106952 0.00001
NM_000088.4(COL1A1):c.983C>A (p.Thr328Asn) rs766151268 0.00001
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723 0.00001
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser) rs72656392 0.00001
NC_000017.10:g.(?_48068881)_(48278874_?)del
NC_000017.10:g.(?_48252598)_(48277328_?)del
NC_000017.10:g.(?_48262843)_(48277749_?)dup
NC_000017.10:g.(?_48262863)_(48277328_?)dup
NC_000017.10:g.(?_48262863)_(48278874_?)dup
NC_000017.10:g.(?_48262945)_(48267306_?)del
NC_000017.10:g.(?_48263658)_(48270428_?)del
NC_000017.10:g.(?_48264825)_(48278874_?)dup
NC_000017.10:g.(?_48264825)_(48278894_?)dup
NC_000017.10:g.(?_48264825)_(48280990_?)dup
NC_000017.10:g.(?_48265217)_(48278874_?)dup
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.(?_48268803)_(48269354_?)del
NC_000017.10:g.(?_48271508)_(48278605_?)dup
NC_000017.10:g.(?_48271690)_(48277328_?)dup
NC_000017.10:g.(?_48272388)_(48277328_?)del
NC_000017.10:g.(?_48272388)_(48278874_?)del
NC_000017.10:g.(?_48274351)_(48274614_?)del
NC_000017.10:g.(?_48275073)_(48278874_?)del
NC_000017.10:g.(?_48276567)_(48278874_?)del
NC_000017.11:g.(?_50185482)_(50192870_?)del
NC_000017.11:g.(?_50190233)_(50190390_?)dup
NC_000017.11:g.(?_50194701)_(50203629_?)del
NC_000017.11:g.(?_50198141)_(50198524_?)del
NC_000017.11:g.50186508del rs2144535299
NC_000017.11:g.50187123dup
NC_000017.11:g.50189539del
NC_000017.11:g.50190597del
NC_000017.11:g.50193048del
NC_000017.11:g.50194829del rs1165573890
NM_000088.3(COL1A1):c.1985del rs1907143600
NM_000088.3(COL1A1):c.2783_2788delinsTGGCG (p.Pro928fs) rs1555572456
NM_000088.3(COL1A1):c.3124_3160del (p.Ala1042fs) rs1567754589
NM_000088.3(COL1A1):c.3815_3819delGAGAG rs1598285125
NM_000088.3(COL1A1):c.563_564delinsA (p.Gly188fs) rs1555574802
NM_000088.3(COL1A1):c.700dup rs2144584155
NM_000088.3(COL1A1):c.920_926delinsTGAGAGGT (p.Pro307fs) rs1567761649
NM_000088.3(COL1A1):c.[1601T>A];[1608_1614+25del]
NM_000088.4(COL1A1):c.1000C>T (p.Pro334Ser) rs1156650562
NM_000088.4(COL1A1):c.1001del (p.Pro334fs) rs150572711
NM_000088.4(COL1A1):c.1002+15T>C rs1171552644
NM_000088.4(COL1A1):c.1002+20C>T
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.1003-8A>G rs2144579048
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.1011C>G (p.Thr337=)
NM_000088.4(COL1A1):c.1011C>T (p.Thr337=) rs774708577
NM_000088.4(COL1A1):c.1011_1019del (p.Ala340_Pro342del)
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.1025C>T (p.Pro342Leu)
NM_000088.4(COL1A1):c.103+13C>G rs775514708
NM_000088.4(COL1A1):c.103+2T>C rs1908083033
NM_000088.4(COL1A1):c.103+3_103+8del
NM_000088.4(COL1A1):c.103+5G>A rs1555575835
NM_000088.4(COL1A1):c.103+5G>C rs1555575835
NM_000088.4(COL1A1):c.103+7C>T rs2144600046
NM_000088.4(COL1A1):c.1032C>T (p.Gly344=)
NM_000088.4(COL1A1):c.1035C>T (p.Phe345=)
NM_000088.4(COL1A1):c.1037C>T (p.Pro346Leu) rs372658559
NM_000088.4(COL1A1):c.104-11G>T
NM_000088.4(COL1A1):c.104-19C>T rs1445327445
NM_000088.4(COL1A1):c.104-284C>T rs2144595908
NM_000088.4(COL1A1):c.104-2A>G rs2144594870
NM_000088.4(COL1A1):c.104-6T>C rs2144594883
NM_000088.4(COL1A1):c.104-8dup
NM_000088.4(COL1A1):c.1042_1043dup (p.Val349fs) rs1907543361
NM_000088.4(COL1A1):c.1053T>C (p.Ala351=) rs1473998316
NM_000088.4(COL1A1):c.1056+12del
NM_000088.4(COL1A1):c.1056+12dup rs766175536
NM_000088.4(COL1A1):c.1056+18C>T rs1357296523
NM_000088.4(COL1A1):c.1056+1G>A
NM_000088.4(COL1A1):c.1056+2T>C
NM_000088.4(COL1A1):c.1056+8C>G
NM_000088.4(COL1A1):c.1057-19G>A
NM_000088.4(COL1A1):c.1057-1G>A rs1555574177
NM_000088.4(COL1A1):c.1057-1G>C
NM_000088.4(COL1A1):c.1057-20T>G
NM_000088.4(COL1A1):c.1057-2A>C
NM_000088.4(COL1A1):c.1057-2A>T rs66511271
NM_000088.4(COL1A1):c.1057-3C>G rs1555574180
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.1077G>A (p.Gly359=) rs1419690614
NM_000088.4(COL1A1):c.1077G>T (p.Gly359=)
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter) rs72645366
NM_000088.4(COL1A1):c.1082G>A (p.Arg361Gln)
NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser) rs1907516553
NM_000088.4(COL1A1):c.1086_1102del (p.Ser363fs) rs1555574154
NM_000088.4(COL1A1):c.108A>G (p.Pro36=) rs2144594842
NM_000088.4(COL1A1):c.108del (p.Pro37fs)
NM_000088.4(COL1A1):c.1092A>C (p.Glu364Asp) rs1907515907
NM_000088.4(COL1A1):c.1099C>T (p.Gln367Ter) rs1555574158
NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala) rs1555574151
NM_000088.4(COL1A1):c.1107G>A (p.Val369=)
NM_000088.4(COL1A1):c.1107_1108delinsAG (p.Arg370Gly) rs1907513580
NM_000088.4(COL1A1):c.1108C>T (p.Arg370Cys)
NM_000088.4(COL1A1):c.1109G>T (p.Arg370Leu)
NM_000088.4(COL1A1):c.110C>G (p.Pro37Arg) rs2144594835
NM_000088.4(COL1A1):c.1111G>A (p.Gly371Ser) rs72645368
NM_000088.4(COL1A1):c.1115A>G (p.Glu372Gly)
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.1145C>T (p.Ala382Val)
NM_000088.4(COL1A1):c.1148G>C (p.Gly383Ala)
NM_000088.4(COL1A1):c.1155+11C>A
NM_000088.4(COL1A1):c.1155+12del
NM_000088.4(COL1A1):c.1155+13G>A
NM_000088.4(COL1A1):c.1155+18A>G
NM_000088.4(COL1A1):c.1155+18_1155+19insT
NM_000088.4(COL1A1):c.1155+1G>C rs72648315
NM_000088.4(COL1A1):c.1155+1G>T rs72648315
NM_000088.4(COL1A1):c.1155+9C>A rs370459791
NM_000088.4(COL1A1):c.1156-4A>G
NM_000088.4(COL1A1):c.1156-4A>T
NM_000088.4(COL1A1):c.1176_1179dup (p.Pro394fs)
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter) rs2144576822
NM_000088.4(COL1A1):c.1178_1179insCCTTTA (p.Gln393delinsHisLeuTer) rs2144576816
NM_000088.4(COL1A1):c.1179dup (p.Pro394fs)
NM_000088.4(COL1A1):c.1184G>C (p.Gly395Ala)
NM_000088.4(COL1A1):c.1192G>T (p.Gly398Cys) rs72648319
NM_000088.4(COL1A1):c.1192_1199del (p.Gly398fs) rs1567760736
NM_000088.4(COL1A1):c.1199A>G (p.Asn400Ser)
NM_000088.4(COL1A1):c.1200+1G>A rs72648320
NM_000088.4(COL1A1):c.1200+2T>A rs2144576668
NM_000088.4(COL1A1):c.1200+2dup rs1555574113
NM_000088.4(COL1A1):c.1200+3A>G
NM_000088.4(COL1A1):c.1200+5G>C
NM_000088.4(COL1A1):c.1201-1G>A rs72648321
NM_000088.4(COL1A1):c.1201G>A (p.Gly401Ser) rs72648322
NM_000088.4(COL1A1):c.1203T>C (p.Gly401=)
NM_000088.4(COL1A1):c.1205C>T (p.Ala402Val)
NM_000088.4(COL1A1):c.1206T>C (p.Ala402=)
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.1215T>G (p.Ile405Met)
NM_000088.4(COL1A1):c.121G>A (p.Val41Ile) rs2144594757
NM_000088.4(COL1A1):c.121G>T (p.Val41Leu) rs2144594757
NM_000088.4(COL1A1):c.1225C>G (p.Pro409Ala)
NM_000088.4(COL1A1):c.1228G>A (p.Gly410Ser)
NM_000088.4(COL1A1):c.1229G>C (p.Gly410Ala)
NM_000088.4(COL1A1):c.1237G>C (p.Gly413Arg) rs1567760604
NM_000088.4(COL1A1):c.1238G>C (p.Gly413Ala) rs72648325
NM_000088.4(COL1A1):c.1238del (p.Gly413fs)
NM_000088.4(COL1A1):c.1240G>T (p.Ala414Ser) rs2144575819
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.4(COL1A1):c.1247G>A (p.Gly416Asp) rs1135401953
NM_000088.4(COL1A1):c.1247del (p.Gly416fs) rs1555574071
NM_000088.4(COL1A1):c.1248C>A (p.Gly416=) rs778415109
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.124C>T (p.Gln42Ter)
NM_000088.4(COL1A1):c.1251C>T (p.Pro417=)
NM_000088.4(COL1A1):c.1259C>G (p.Pro420Arg)
NM_000088.4(COL1A1):c.1259C>T (p.Pro420Leu)
NM_000088.4(COL1A1):c.1261C>T (p.Gln421Ter) rs1598296825
NM_000088.4(COL1A1):c.1261del (p.Gln421fs) rs1114167385
NM_000088.4(COL1A1):c.1268C>T (p.Pro423Leu)
NM_000088.4(COL1A1):c.1269del (p.Gly424fs) rs1114167374
NM_000088.4(COL1A1):c.1269dup (p.Gly424fs) rs1114167374
NM_000088.4(COL1A1):c.126G>C (p.Gln42His) rs1555575436
NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser) rs72648330
NM_000088.4(COL1A1):c.1284_1291dup (p.Gly431fs) rs2144575412
NM_000088.4(COL1A1):c.1287C>T (p.Pro429=)
NM_000088.4(COL1A1):c.1289A>T (p.Lys430Met)
NM_000088.4(COL1A1):c.1290G>A (p.Lys430=)
NM_000088.4(COL1A1):c.1292del (p.Gly431fs) rs1114167375
NM_000088.4(COL1A1):c.1293T>C (p.Gly431=) rs1907475173
NM_000088.4(COL1A1):c.1299+13C>T
NM_000088.4(COL1A1):c.1299+1G>A rs66490707
NM_000088.4(COL1A1):c.1299+1G>C rs66490707
NM_000088.4(COL1A1):c.1299+20T>A
NM_000088.4(COL1A1):c.1299+5G>A rs193922139
NM_000088.4(COL1A1):c.1300-12dup rs776544779
NM_000088.4(COL1A1):c.1300-1G>A
NM_000088.4(COL1A1):c.1300-8C>A rs41317361
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.1300-9C>A
NM_000088.4(COL1A1):c.1301G>C (p.Gly434Ala) 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.1341T>A (p.Ala447=)
NM_000088.4(COL1A1):c.1348G>C (p.Glu450Gln) rs896085870
NM_000088.4(COL1A1):c.1351C>G (p.Pro451Ala) rs1907454557
NM_000088.4(COL1A1):c.1353+12C>T
NM_000088.4(COL1A1):c.1353+13G>A
NM_000088.4(COL1A1):c.1353+16A>G
NM_000088.4(COL1A1):c.1353+19C>T
NM_000088.4(COL1A1):c.1353+2T>C
NM_000088.4(COL1A1):c.1353T>C (p.Pro451=)
NM_000088.4(COL1A1):c.1354-13C>A rs372034810
NM_000088.4(COL1A1):c.1354-15C>T
NM_000088.4(COL1A1):c.1354-1G>C
NM_000088.4(COL1A1):c.1354-4C>G
NM_000088.4(COL1A1):c.1354-6_1359del
NM_000088.4(COL1A1):c.1354-8del rs765450816
NM_000088.4(COL1A1):c.1360G>A (p.Val454Ile)
NM_000088.4(COL1A1):c.1369C>T (p.Gln457Ter) rs1228746935
NM_000088.4(COL1A1):c.1372G>T (p.Gly458Ter)
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.4(COL1A1):c.1375C>T (p.Pro459Ser)
NM_000088.4(COL1A1):c.1378C>T (p.Pro460Ser) rs945417737
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.1387G>A (p.Ala463Thr) rs1555573895
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.1406G>A (p.Arg469Gln)
NM_000088.4(COL1A1):c.1414C>T (p.Arg472Ter) rs72648343
NM_000088.4(COL1A1):c.141C>G (p.Tyr47Ter)
NM_000088.4(COL1A1):c.1424C>A (p.Pro475His)
NM_000088.4(COL1A1):c.1425C>T (p.Pro475=)
NM_000088.4(COL1A1):c.1425dup (p.Gly476fs)
NM_000088.4(COL1A1):c.1426_1427dup (p.Pro477fs) rs2144573120
NM_000088.4(COL1A1):c.1427G>T (p.Gly476Val)
NM_000088.4(COL1A1):c.1430C>A (p.Pro477His)
NM_000088.4(COL1A1):c.1430C>G (p.Pro477Arg)
NM_000088.4(COL1A1):c.1438C>G (p.Leu480Val)
NM_000088.4(COL1A1):c.1438del (p.Leu480fs)
NM_000088.4(COL1A1):c.143A>G (p.His48Arg) rs1273874412
NM_000088.4(COL1A1):c.143A>T (p.His48Leu)
NM_000088.4(COL1A1):c.1443C>G (p.Pro481=) rs770169695
NM_000088.4(COL1A1):c.1443C>T (p.Pro481=) rs770169695
NM_000088.4(COL1A1):c.1444G>C (p.Gly482Arg)
NM_000088.4(COL1A1):c.1448C>A (p.Pro483His)
NM_000088.4(COL1A1):c.144T>C (p.His48=)
NM_000088.4(COL1A1):c.1450C>T (p.Pro484Ser)
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.1453G>A (p.Gly485Ser)
NM_000088.4(COL1A1):c.1454G>C (p.Gly485Ala) rs1907418203
NM_000088.4(COL1A1):c.1455C>T (p.Gly485=)
NM_000088.4(COL1A1):c.1456G>A (p.Glu486Lys) rs1171968124
NM_000088.4(COL1A1):c.1456G>T (p.Glu486Ter)
NM_000088.4(COL1A1):c.1460G>A (p.Arg487His) rs2144572836
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.1461+2dup
NM_000088.4(COL1A1):c.1462-14C>A
NM_000088.4(COL1A1):c.1462-19G>A
NM_000088.4(COL1A1):c.1462-3C>A rs2144572314
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.1478G>A (p.Arg493His)
NM_000088.4(COL1A1):c.1487C>T (p.Pro496Leu)
NM_000088.4(COL1A1):c.148C>A (p.Arg50=) rs1555575425
NM_000088.4(COL1A1):c.1497T>C (p.Asp499=)
NM_000088.4(COL1A1):c.14del (p.Val5fs) rs2144600691
NM_000088.4(COL1A1):c.1508G>C (p.Gly503Ala)
NM_000088.4(COL1A1):c.1511C>T (p.Pro504Leu)
NM_000088.4(COL1A1):c.1515+10C>G rs2144571923
NM_000088.4(COL1A1):c.1515+15C>T rs758006385
NM_000088.4(COL1A1):c.1515+19dup
NM_000088.4(COL1A1):c.1515+20G>T
NM_000088.4(COL1A1):c.1516-11C>A
NM_000088.4(COL1A1):c.1516-14C>T rs1437177152
NM_000088.4(COL1A1):c.1516-1G>A rs72648352
NM_000088.4(COL1A1):c.1516-6A>C
NM_000088.4(COL1A1):c.1516-9C>T rs369076517
NM_000088.4(COL1A1):c.1517G>A (p.Gly506Asp)
NM_000088.4(COL1A1):c.1520C>T (p.Pro507Leu)
NM_000088.4(COL1A1):c.1531C>T (p.Arg511Cys) rs1478682303
NM_000088.4(COL1A1):c.1532G>T (p.Arg511Leu)
NM_000088.4(COL1A1):c.1533T>G (p.Arg511=) rs899423835
NM_000088.4(COL1A1):c.1545C>T (p.Gly515=)
NM_000088.4(COL1A1):c.1546C>T (p.Pro516Ser)
NM_000088.4(COL1A1):c.154_163del (p.Val52fs) rs2144594472
NM_000088.4(COL1A1):c.1550C>G (p.Ala517Gly)
NM_000088.4(COL1A1):c.1550C>T (p.Ala517Val) rs1907378945
NM_000088.4(COL1A1):c.1551T>C (p.Ala517=)
NM_000088.4(COL1A1):c.1554C>G (p.Gly518=)
NM_000088.4(COL1A1):c.1556C>A (p.Pro519His)
NM_000088.4(COL1A1):c.1557del (p.Gly521fs)
NM_000088.4(COL1A1):c.1559A>G (p.Lys520Arg) rs2144571197
NM_000088.4(COL1A1):c.1562del (p.Gly521fs) rs1907377731
NM_000088.4(COL1A1):c.1567_1569del (p.Pro523del) rs1907377085
NM_000088.4(COL1A1):c.1582C>A (p.Arg528Ser)
NM_000088.4(COL1A1):c.1588G>A (p.Gly530Ser) rs67682641
NM_000088.4(COL1A1):c.1588G>T (p.Gly530Cys) rs67682641
NM_000088.4(COL1A1):c.158G>A (p.Trp53Ter)
NM_000088.4(COL1A1):c.159G>A (p.Trp53Ter)
NM_000088.4(COL1A1):c.1605_1611del (p.Gly536fs)
NM_000088.4(COL1A1):c.1611del (p.Lys538fs) rs1114167387
NM_000088.4(COL1A1):c.1614+1G>A rs72648357
NM_000088.4(COL1A1):c.1614+1G>C rs72648357
NM_000088.4(COL1A1):c.1614+2T>A rs1598295482
NM_000088.4(COL1A1):c.1614G>C (p.Lys538Asn) rs770596593
NM_000088.4(COL1A1):c.1615-16C>T rs2144570402
NM_000088.4(COL1A1):c.1615-1G>A
NM_000088.4(COL1A1):c.1615-3T>C
NM_000088.4(COL1A1):c.1620G>C (p.Leu540=)
NM_000088.4(COL1A1):c.1629C>T (p.Ser543=)
NM_000088.4(COL1A1):c.1653C>G (p.Gly551=)
NM_000088.4(COL1A1):c.1654A>T (p.Lys552Ter) rs1567759402
NM_000088.4(COL1A1):c.1662C>T (p.Gly554=)
NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg) rs72648359
NM_000088.4(COL1A1):c.1667C>T (p.Pro556Leu) rs778151591
NM_000088.4(COL1A1):c.1667del (p.Pro556fs) rs1351742344
NM_000088.4(COL1A1):c.1667dup (p.Gly557fs) rs1351742344
NM_000088.4(COL1A1):c.1668+13C>G rs1907346296
NM_000088.4(COL1A1):c.1668+18del
NM_000088.4(COL1A1):c.1668+9C>A
NM_000088.4(COL1A1):c.1668del (p.Gly557fs) rs72648360
NM_000088.4(COL1A1):c.1669-12T>C
NM_000088.4(COL1A1):c.1669-8A>G
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.1685A>G (p.Asp562Gly)
NM_000088.4(COL1A1):c.168G>A (p.Glu56=) rs371006337
NM_000088.4(COL1A1):c.1690C>T (p.Arg564Cys)
NM_000088.4(COL1A1):c.1693C>A (p.Pro565Thr) rs750241688
NM_000088.4(COL1A1):c.1695del (p.Gly566fs)
NM_000088.4(COL1A1):c.169C>G (p.Pro57Ala)
NM_000088.4(COL1A1):c.169C>T (p.Pro57Ser)
NM_000088.4(COL1A1):c.1703del (p.Pro568fs) rs1555573629
NM_000088.4(COL1A1):c.1713_1720del (p.Gly572fs) rs1907332311
NM_000088.4(COL1A1):c.1720del (p.Arg574fs) rs1555573621
NM_000088.4(COL1A1):c.1728G>A (p.Gln576=) rs1410003274
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser) rs1907330109
NM_000088.4(COL1A1):c.1736T>C (p.Val579Ala)
NM_000088.4(COL1A1):c.1740G>A (p.Met580Ile)
NM_000088.4(COL1A1):c.1748C>G (p.Pro583Arg) rs1401682206
NM_000088.4(COL1A1):c.1756A>G (p.Lys586Glu) rs1321629414
NM_000088.4(COL1A1):c.1760G>C (p.Gly587Ala)
NM_000088.4(COL1A1):c.1767+19T>A
NM_000088.4(COL1A1):c.1767+1G>A rs2144569036
NM_000088.4(COL1A1):c.1767+3_1767+6del rs886042301
NM_000088.4(COL1A1):c.1768-12C>G
NM_000088.4(COL1A1):c.1768-1G>A rs72648370
NM_000088.4(COL1A1):c.1768-20C>G rs1907245660
NM_000088.4(COL1A1):c.1768-6C>T
NM_000088.4(COL1A1):c.1768-9T>C rs2144565853
NM_000088.4(COL1A1):c.176G>C (p.Arg59Pro) rs2144594400
NM_000088.4(COL1A1):c.1772_1773del (p.Glu591fs) rs1555573484
NM_000088.4(COL1A1):c.1778G>C (p.Gly593Ala) rs72651613
NM_000088.4(COL1A1):c.177_178dup (p.Ile60fs)
NM_000088.4(COL1A1):c.177del (p.Ile60fs)
NM_000088.4(COL1A1):c.1783del (p.Ala595fs)
NM_000088.4(COL1A1):c.1787G>C (p.Gly596Ala)
NM_000088.4(COL1A1):c.178A>C (p.Ile60Leu)
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter) rs72651614
NM_000088.4(COL1A1):c.1797del (p.Val600fs) rs2144565641
NM_000088.4(COL1A1):c.179TCTGCG[3] (p.Cys63_Asp64insValCys)
NM_000088.4(COL1A1):c.1804G>T (p.Gly602Ter) rs72651615
NM_000088.4(COL1A1):c.1809C>T (p.Pro603=)
NM_000088.4(COL1A1):c.1810C>G (p.Pro604Ala) rs868525869
NM_000088.4(COL1A1):c.1811C>A (p.Pro604His)
NM_000088.4(COL1A1):c.1811C>T (p.Pro604Leu)
NM_000088.4(COL1A1):c.1811del (p.Pro604fs)
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.4(COL1A1):c.1815C>A (p.Gly605=) rs370384784
NM_000088.4(COL1A1):c.1815C>T (p.Gly605=) rs370384784
NM_000088.4(COL1A1):c.1816G>A (p.Ala606Thr)
NM_000088.4(COL1A1):c.1821+11C>T
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.1821+1del
NM_000088.4(COL1A1):c.1821C>G (p.Val607=) rs41316667
NM_000088.4(COL1A1):c.1821del (p.Gly608fs) rs2144565471
NM_000088.4(COL1A1):c.1822-1G>A
NM_000088.4(COL1A1):c.1822-6C>A
NM_000088.4(COL1A1):c.1828G>A (p.Ala610Thr) rs1016862662
NM_000088.4(COL1A1):c.1828G>T (p.Ala610Ser)
NM_000088.4(COL1A1):c.1832G>A (p.Gly611Asp)
NM_000088.4(COL1A1):c.1833C>T (p.Gly611=)
NM_000088.4(COL1A1):c.1836A>T (p.Lys612Asn)
NM_000088.4(COL1A1):c.1838A>G (p.Asp613Gly)
NM_000088.4(COL1A1):c.183C>G (p.Cys61Trp) rs755126464
NM_000088.4(COL1A1):c.183C>T (p.Cys61=)
NM_000088.4(COL1A1):c.1846G>A (p.Ala616Thr)
NM_000088.4(COL1A1):c.1847del (p.Ala616fs) rs2144564620
NM_000088.4(COL1A1):c.1851A>G (p.Gly617=)
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+15T>C
NM_000088.4(COL1A1):c.1875+5G>C rs886041866
NM_000088.4(COL1A1):c.1875+8T>A rs756572885
NM_000088.4(COL1A1):c.1876-19T>C
NM_000088.4(COL1A1):c.1876-1G>A
NM_000088.4(COL1A1):c.1876-2A>G rs67891210
NM_000088.4(COL1A1):c.1876-6G>C
NM_000088.4(COL1A1):c.1876G>A (p.Gly626Ser)
NM_000088.4(COL1A1):c.1882_1886dup (p.Glu630fs)
NM_000088.4(COL1A1):c.1884T>C (p.Ala628=)
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.1897G>A (p.Glu633Lys) rs2144563826
NM_000088.4(COL1A1):c.189C>A (p.Cys63Ter)
NM_000088.4(COL1A1):c.1909G>C (p.Ala637Pro)
NM_000088.4(COL1A1):c.1910C>A (p.Ala637Asp)
NM_000088.4(COL1A1):c.1910C>G (p.Ala637Gly) rs886053161
NM_000088.4(COL1A1):c.1920del (p.Gly641fs) rs2144563732
NM_000088.4(COL1A1):c.1921G>A (p.Gly641Arg) rs2144563717
NM_000088.4(COL1A1):c.1922G>C (p.Gly641Ala) rs1598293646
NM_000088.4(COL1A1):c.1925del (p.Phe642fs)
NM_000088.4(COL1A1):c.1929+10C>T
NM_000088.4(COL1A1):c.1929+12T>C
NM_000088.4(COL1A1):c.1929+1G>A rs1555573313
NM_000088.4(COL1A1):c.1929+1_1929+6del
NM_000088.4(COL1A1):c.1929+7C>T
NM_000088.4(COL1A1):c.1930-1G>A rs1555573288
NM_000088.4(COL1A1):c.1930-29_1930-18del rs1598293534
NM_000088.4(COL1A1):c.1930-2A>G rs2144563277
NM_000088.4(COL1A1):c.1944T>C (p.Pro648=) rs1301142840
NM_000088.4(COL1A1):c.1945G>A (p.Ala649Thr) rs2144563154
NM_000088.4(COL1A1):c.1951C>T (p.Pro651Ser)
NM_000088.4(COL1A1):c.1958del (p.Gly653fs)
NM_000088.4(COL1A1):c.195C>A (p.Asn65Lys) rs1907930276
NM_000088.4(COL1A1):c.196G>A (p.Gly66Ser) rs1240249424
NM_000088.4(COL1A1):c.196G>T (p.Gly66Cys)
NM_000088.4(COL1A1):c.1977T>C (p.Gly659=)
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+12C>T
NM_000088.4(COL1A1):c.1983+14G>T
NM_000088.4(COL1A1):c.1983+17G>A
NM_000088.4(COL1A1):c.1983+1G>C
NM_000088.4(COL1A1):c.1983+20C>T
NM_000088.4(COL1A1):c.1983+2dup
NM_000088.4(COL1A1):c.1983+9G>A rs201091992
NM_000088.4(COL1A1):c.1983+9G>T rs201091992
NM_000088.4(COL1A1):c.1984-12C>G
NM_000088.4(COL1A1):c.1984-13C>G
NM_000088.4(COL1A1):c.1984-14T>C
NM_000088.4(COL1A1):c.1984-1G>A rs2144561474
NM_000088.4(COL1A1):c.1984-2A>G
NM_000088.4(COL1A1):c.1984-2A>T rs72651632
NM_000088.4(COL1A1):c.1984-5C>G
NM_000088.4(COL1A1):c.1984-6C>A rs373873548
NM_000088.4(COL1A1):c.1984-6C>G rs373873548
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.2004C>T (p.Gly668=)
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr) rs563598815
NM_000088.4(COL1A1):c.2005G>C (p.Ala669Pro) rs563598815
NM_000088.4(COL1A1):c.2009dup (p.Gly671fs)
NM_000088.4(COL1A1):c.200A>G (p.Lys67Arg)
NM_000088.4(COL1A1):c.2010del (p.Gly671fs) rs72651634
NM_000088.4(COL1A1):c.2018C>A (p.Ser673Tyr) rs1263860713
NM_000088.4(COL1A1):c.201G>A (p.Lys67=)
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+17C>G
NM_000088.4(COL1A1):c.2028+17C>T
NM_000088.4(COL1A1):c.2028+2T>A
NM_000088.4(COL1A1):c.2028+2T>G rs72651635
NM_000088.4(COL1A1):c.2028+3_2028+20del rs2144561189
NM_000088.4(COL1A1):c.2029-4C>A
NM_000088.4(COL1A1):c.2031C>A (p.Gly677=)
NM_000088.4(COL1A1):c.2031C>T (p.Gly677=)
NM_000088.4(COL1A1):c.2039del (p.Gly680fs)
NM_000088.4(COL1A1):c.2048G>C (p.Gly683Ala) rs1598292524
NM_000088.4(COL1A1):c.2050G>A (p.Glu684Lys)
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.2076T>C (p.Gly692=)
NM_000088.4(COL1A1):c.2084del (p.Gly695fs) rs72651641
NM_000088.4(COL1A1):c.2085del (p.Arg697fs) rs2144560315
NM_000088.4(COL1A1):c.2087C>T (p.Pro696Leu)
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.2107C>G (p.Pro703Ala) rs1339321096
NM_000088.4(COL1A1):c.2109C>T (p.Pro703=)
NM_000088.4(COL1A1):c.210C>A (p.Cys70Ter) rs2144594178
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) rs67368147
NM_000088.4(COL1A1):c.2127+11C>T
NM_000088.4(COL1A1):c.2127+17A>T
NM_000088.4(COL1A1):c.2127+1G>A rs1181095991
NM_000088.4(COL1A1):c.2127+2T>A rs72651644
NM_000088.4(COL1A1):c.2127+3G>A
NM_000088.4(COL1A1):c.2127+7G>C rs1184194000
NM_000088.4(COL1A1):c.2128-14T>C
NM_000088.4(COL1A1):c.2128-15T>C
NM_000088.4(COL1A1):c.2128-17del
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.2128-20T>A
NM_000088.4(COL1A1):c.2128-5C>T rs2144558904
NM_000088.4(COL1A1):c.212dup (p.Asp71fs) rs1567764832
NM_000088.4(COL1A1):c.2136T>C (p.Ala712=)
NM_000088.4(COL1A1):c.2136T>G (p.Ala712=) rs762156466
NM_000088.4(COL1A1):c.2139T>C (p.Gly713=)
NM_000088.4(COL1A1):c.2139del (p.Ala714fs) rs1555573039
NM_000088.4(COL1A1):c.2140G>A (p.Ala714Thr)
NM_000088.4(COL1A1):c.2141C>T (p.Ala714Val)
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.2159G>A (p.Ser720Asn)
NM_000088.4(COL1A1):c.2159G>T (p.Ser720Ile)
NM_000088.4(COL1A1):c.2159del (p.Ser720fs) rs2144558687
NM_000088.4(COL1A1):c.2165del (p.Gly722fs)
NM_000088.4(COL1A1):c.2167G>T (p.Ala723Ser)
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) rs561374961
NM_000088.4(COL1A1):c.2172del (p.Gly725fs) rs1567757138
NM_000088.4(COL1A1):c.2176C>A (p.Leu726Ile)
NM_000088.4(COL1A1):c.2179C>T (p.Gln727Ter)
NM_000088.4(COL1A1):c.2180A>G (p.Gln727Arg)
NM_000088.4(COL1A1):c.2182G>T (p.Gly728Ter) rs72651648
NM_000088.4(COL1A1):c.2182_2188del (p.Gly728fs)
NM_000088.4(COL1A1):c.2184A>C (p.Gly728=)
NM_000088.4(COL1A1):c.2185A>G (p.Met729Val)
NM_000088.4(COL1A1):c.2197C>T (p.Arg733Cys) rs1567757112
NM_000088.4(COL1A1):c.2200G>A (p.Gly734Ser) rs2144558383
NM_000088.4(COL1A1):c.2203G>T (p.Ala735Ser) rs1555573014
NM_000088.4(COL1A1):c.2215C>G (p.Pro739Ala) rs1282743605
NM_000088.4(COL1A1):c.2217del (p.Pro741fs) rs1555573004
NM_000088.4(COL1A1):c.2220G>A (p.Gly740=)
NM_000088.4(COL1A1):c.2220G>T (p.Gly740=) rs1284213555
NM_000088.4(COL1A1):c.2235+11C>A rs572426023
NM_000088.4(COL1A1):c.2235+11C>G rs572426023
NM_000088.4(COL1A1):c.2235+12C>T
NM_000088.4(COL1A1):c.2235+1G>C rs1114167390
NM_000088.4(COL1A1):c.2235+5G>T rs1907061034
NM_000088.4(COL1A1):c.2236-1G>C rs1907020116
NM_000088.4(COL1A1):c.2236-3T>C
NM_000088.4(COL1A1):c.2239_2240insGATAGG (p.Asp747delinsGlyTer)
NM_000088.4(COL1A1):c.2244T>C (p.Ala748=) rs2144556720
NM_000088.4(COL1A1):c.2245G>A (p.Gly749Ser)
NM_000088.4(COL1A1):c.2249C>G (p.Pro750Arg)
NM_000088.4(COL1A1):c.224G>T (p.Cys75Phe)
NM_000088.4(COL1A1):c.2253del (p.Gly752fs) rs1598291438
NM_000088.4(COL1A1):c.2258C>T (p.Ala753Val)
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=) rs759665341
NM_000088.4(COL1A1):c.2284G>A (p.Val762Ile) rs138749826
NM_000088.4(COL1A1):c.2284G>C (p.Val762Leu) rs138749826
NM_000088.4(COL1A1):c.2289T>C (p.Arg763=)
NM_000088.4(COL1A1):c.2289del (p.Gly764fs) rs2144556507
NM_000088.4(COL1A1):c.228C>G (p.Asp76Glu) rs1314366641
NM_000088.4(COL1A1):c.2291G>C (p.Gly764Ala) 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.22C>G (p.Arg8Gly)
NM_000088.4(COL1A1):c.22C>T (p.Arg8Trp)
NM_000088.4(COL1A1):c.2304dup (p.Ile769fs)
NM_000088.4(COL1A1):c.2305A>T (p.Ile769Phe) rs2144556397
NM_000088.4(COL1A1):c.2321C>T (p.Pro774Leu)
NM_000088.4(COL1A1):c.2323G>A (p.Ala775Thr)
NM_000088.4(COL1A1):c.2333del (p.Pro778fs)
NM_000088.4(COL1A1):c.2334del (p.Gly779fs)
NM_000088.4(COL1A1):c.2343+11C>T rs369846335
NM_000088.4(COL1A1):c.2343+12G>A
NM_000088.4(COL1A1):c.2343+15T>A
NM_000088.4(COL1A1):c.2343+1G>A rs1114167378
NM_000088.4(COL1A1):c.2344-12C>T
NM_000088.4(COL1A1):c.2344-1G>A rs1567756567
NM_000088.4(COL1A1):c.2344-3C>A
NM_000088.4(COL1A1):c.2358C>T (p.Pro786=)
NM_000088.4(COL1A1):c.2361C>T (p.Ser787=)
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.4(COL1A1):c.2372G>C (p.Gly791Ala)
NM_000088.4(COL1A1):c.2382A>G (p.Gly794=) rs2144555296
NM_000088.4(COL1A1):c.2386C>T (p.Arg796Cys) rs751890158
NM_000088.4(COL1A1):c.2396C>T (p.Pro799Leu)
NM_000088.4(COL1A1):c.2397+10G>C rs2144555148
NM_000088.4(COL1A1):c.2397+15C>T rs2144555128
NM_000088.4(COL1A1):c.2397del (p.Gly800fs) rs1906989648
NM_000088.4(COL1A1):c.2397dup (p.Gly800fs) rs1906989648
NM_000088.4(COL1A1):c.2398-11T>C
NM_000088.4(COL1A1):c.2398-12C>A
NM_000088.4(COL1A1):c.2398-1G>C rs193922147
NM_000088.4(COL1A1):c.2398-1G>T
NM_000088.4(COL1A1):c.2398-4C>T rs1054580849
NM_000088.4(COL1A1):c.2400A>G (p.Gly800=) rs1555572759
NM_000088.4(COL1A1):c.2400_2409delinsGAAAGGGGAAGAGGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGA (p.Asp801fs) rs2144554620
NM_000088.4(COL1A1):c.2407G>A (p.Gly803Ser)
NM_000088.4(COL1A1):c.2422C>A (p.Pro808Thr) rs1215940390
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.2427C>G (p.Gly809=)
NM_000088.4(COL1A1):c.2428C>T (p.Pro810Ser) rs1555572744
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.2445C>A (p.Gly815=) rs762075856
NM_000088.4(COL1A1):c.2445C>G (p.Gly815=)
NM_000088.4(COL1A1):c.2449C>A (p.Pro817Thr) rs769167761
NM_000088.4(COL1A1):c.2449C>T (p.Pro817Ser)
NM_000088.4(COL1A1):c.2450_2451insG (p.Gly818fs)
NM_000088.4(COL1A1):c.2450del (p.Pro817fs) rs193922149
NM_000088.4(COL1A1):c.2450dup (p.Gly818fs) rs193922149
NM_000088.4(COL1A1):c.2451+13A>G
NM_000088.4(COL1A1):c.2451+14C>A
NM_000088.4(COL1A1):c.2451+15C>T
NM_000088.4(COL1A1):c.2451+16C>T
NM_000088.4(COL1A1):c.2451+17C>T
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.2451+6T>A
NM_000088.4(COL1A1):c.2452-17C>A
NM_000088.4(COL1A1):c.2452-17C>T
NM_000088.4(COL1A1):c.2452-19G>T
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.2452-4C>G
NM_000088.4(COL1A1):c.2452-4C>T rs1267688094
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser) rs1598290382
NM_000088.4(COL1A1):c.2457T>C (p.Ala819=)
NM_000088.4(COL1A1):c.2460C>T (p.Asp820=)
NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser) rs67693970
NM_000088.4(COL1A1):c.2468C>T (p.Pro823Leu)
NM_000088.4(COL1A1):c.246C>G (p.Pro82=)
NM_000088.4(COL1A1):c.2482G>A (p.Glu828Lys)
NM_000088.4(COL1A1):c.2482G>T (p.Glu828Ter)
NM_000088.4(COL1A1):c.2483_2485delinsG (p.Glu828fs)
NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp) rs1906940342
NM_000088.4(COL1A1):c.2491G>A (p.Asp831Asn)
NM_000088.4(COL1A1):c.249_252dup (p.Glu85fs)
NM_000088.4(COL1A1):c.24G>A (p.Arg8=)
NM_000088.4(COL1A1):c.2501C>T (p.Ala834Val)
NM_000088.4(COL1A1):c.2505del (p.Gly836fs)
NM_000088.4(COL1A1):c.2508C>A (p.Gly836=)
NM_000088.4(COL1A1):c.2512G>T (p.Ala838Ser)
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.4(COL1A1):c.2521C>T (p.Pro841Ser)
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.2530G>T (p.Ala844Ser)
NM_000088.4(COL1A1):c.2530dup (p.Ala844fs) rs2144552926
NM_000088.4(COL1A1):c.2532C>A (p.Ala844=)
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.2537C>T (p.Pro846Leu)
NM_000088.4(COL1A1):c.2544del (p.Pro850fs)
NM_000088.4(COL1A1):c.2549del (p.Pro850fs) rs1114167379
NM_000088.4(COL1A1):c.254_255insGGC (p.Glu85_Val86insAla)
NM_000088.4(COL1A1):c.2550del (p.Gly851fs) rs1114167380
NM_000088.4(COL1A1):c.2552G>C (p.Gly851Ala) rs72653137
NM_000088.4(COL1A1):c.2554C>T (p.Pro852Ser)
NM_000088.4(COL1A1):c.2558T>C (p.Ile853Thr) rs2144552753
NM_000088.4(COL1A1):c.2559+13G>A
NM_000088.4(COL1A1):c.2559+1G>A
NM_000088.4(COL1A1):c.2559+5G>A rs72653138
NM_000088.4(COL1A1):c.2559+5G>T
NM_000088.4(COL1A1):c.2559T>A (p.Ile853=) rs764910205
NM_000088.4(COL1A1):c.2560-16C>T
NM_000088.4(COL1A1):c.2560-18C>A
NM_000088.4(COL1A1):c.2560-19_2560-18delinsTG
NM_000088.4(COL1A1):c.2560-5T>C rs2144552369
NM_000088.4(COL1A1):c.2560-9C>G
NM_000088.4(COL1A1):c.2560-9C>T
NM_000088.4(COL1A1):c.2560G>A (p.Gly854Ser)
NM_000088.4(COL1A1):c.2560G>C (p.Gly854Arg) rs72653140
NM_000088.4(COL1A1):c.2567_2569del (p.Val856del)
NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys) rs72653141
NM_000088.4(COL1A1):c.2570G>A (p.Gly857Asp)
NM_000088.4(COL1A1):c.2573C>G (p.Ala858Gly) rs550053089
NM_000088.4(COL1A1):c.2573C>T (p.Ala858Val)
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.2586del (p.Gly863fs) rs1598289920
NM_000088.4(COL1A1):c.258C>T (p.Val86=) rs773763288
NM_000088.4(COL1A1):c.2595C>G (p.Arg865=) rs117672175
NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser) rs67445413
NM_000088.4(COL1A1):c.2597del (p.Gly866fs)
NM_000088.4(COL1A1):c.2598C>G (p.Gly866=) rs1388778878
NM_000088.4(COL1A1):c.260C>T (p.Pro87Leu) rs926503489
NM_000088.4(COL1A1):c.2613+17T>G
NM_000088.4(COL1A1):c.2614-1G>C
NM_000088.4(COL1A1):c.2614-20C>G
NM_000088.4(COL1A1):c.2614-2A>G rs2144551661
NM_000088.4(COL1A1):c.2617G>A (p.Ala873Thr)
NM_000088.4(COL1A1):c.2619T>C (p.Ala873=) rs1321978569
NM_000088.4(COL1A1):c.261C>G (p.Pro87=)
NM_000088.4(COL1A1):c.2629C>T (p.Pro877Ser) rs2144551585
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.2643C>G (p.Gly881=) rs1414204760
NM_000088.4(COL1A1):c.2644C>A (p.Arg882=)
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+10T>A
NM_000088.4(COL1A1):c.2667+17G>A
NM_000088.4(COL1A1):c.2667+1G>A rs72653150
NM_000088.4(COL1A1):c.2667+1G>T rs72653150
NM_000088.4(COL1A1):c.2667+1_2667+2del rs2144551340
NM_000088.4(COL1A1):c.2667+3_2667+6del rs1114167393
NM_000088.4(COL1A1):c.2667+5G>A
NM_000088.4(COL1A1):c.2667+9C>T rs372981012
NM_000088.4(COL1A1):c.2668-11T>A
NM_000088.4(COL1A1):c.2668-14C>T
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.267C>A (p.Gly89=)
NM_000088.4(COL1A1):c.2680C>T (p.Pro894Ser)
NM_000088.4(COL1A1):c.2684C>T (p.Pro895Leu)
NM_000088.4(COL1A1):c.2684del (p.Pro895fs) rs72653151
NM_000088.4(COL1A1):c.2684dup (p.Gly896fs) rs72653151
NM_000088.4(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.4(COL1A1):c.268G>T (p.Glu90Ter) rs748550422
NM_000088.4(COL1A1):c.2702C>T (p.Ala901Val)
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.2721A>G (p.Lys907=)
NM_000088.4(COL1A1):c.2729G>A (p.Arg910His)
NM_000088.4(COL1A1):c.272G>A (p.Cys91Tyr)
NM_000088.4(COL1A1):c.273dup (p.Cys92fs)
NM_000088.4(COL1A1):c.2746G>C (p.Ala916Pro)
NM_000088.4(COL1A1):c.2748T>C (p.Ala916=)
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.2770C>T (p.Pro924Ser)
NM_000088.4(COL1A1):c.2773C>T (p.Pro925Ser) rs772929903
NM_000088.4(COL1A1):c.2774del (p.Pro925fs) rs1906868595
NM_000088.4(COL1A1):c.2775del (p.Gly926fs) rs878853274
NM_000088.4(COL1A1):c.2781_2789dup (p.Pro930_Ala931insProGlyPro)
NM_000088.4(COL1A1):c.2783del (p.Pro928fs)
NM_000088.4(COL1A1):c.2784del (p.Gly929fs) rs72653155
NM_000088.4(COL1A1):c.2786dup (p.Ala931fs) rs1598289247
NM_000088.4(COL1A1):c.278C>G (p.Pro93Arg)
NM_000088.4(COL1A1):c.2793del (p.Gly932fs) rs1906866028
NM_000088.4(COL1A1):c.2797G>A (p.Glu933Lys) rs1906865517
NM_000088.4(COL1A1):c.2806T>C (p.Ser936Pro) rs1555572452
NM_000088.4(COL1A1):c.2810C>A (p.Pro937His) rs1555572447
NM_000088.4(COL1A1):c.2816del (p.Ala939fs)
NM_000088.4(COL1A1):c.2829+15A>G rs2144549780
NM_000088.4(COL1A1):c.2829+1G>A rs72653156
NM_000088.4(COL1A1):c.2829+1G>C rs72653156
NM_000088.4(COL1A1):c.2829+2dup rs2144549833
NM_000088.4(COL1A1):c.2829+8C>T
NM_000088.4(COL1A1):c.2830-17C>T rs755300568
NM_000088.4(COL1A1):c.2830-1G>A rs111594467
NM_000088.4(COL1A1):c.2830-3A>G rs1906853874
NM_000088.4(COL1A1):c.2831delG rs2144549369
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.4(COL1A1):c.2842A>G (p.Thr948Ala)
NM_000088.4(COL1A1):c.2845C>G (p.Pro949Ala)
NM_000088.4(COL1A1):c.2845C>T (p.Pro949Ser) rs1434279534
NM_000088.4(COL1A1):c.2855A>G (p.Gln952Arg)
NM_000088.4(COL1A1):c.2856A>G (p.Gln952=)
NM_000088.4(COL1A1):c.2866G>A (p.Gly956Arg) rs797045033
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.288C>G (p.Pro96=)
NM_000088.4(COL1A1):c.288del (p.Asp97fs) rs2144593759
NM_000088.4(COL1A1):c.2892T>C (p.Pro964=)
NM_000088.4(COL1A1):c.2892T>G (p.Pro964=) rs753585193
NM_000088.4(COL1A1):c.2900del (p.Arg967fs) rs1906846472
NM_000088.4(COL1A1):c.2906A>G (p.Glu969Gly)
NM_000088.4(COL1A1):c.2907G>A (p.Glu969=)
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.290A>G (p.Asp97Gly) rs758351823
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.2917C>T (p.Pro973Ser)
NM_000088.4(COL1A1):c.291del (p.Asp97fs)
NM_000088.4(COL1A1):c.2922T>C (p.Gly974=)
NM_000088.4(COL1A1):c.2925T>C (p.Leu975=) rs2144548840
NM_000088.4(COL1A1):c.2928del (p.Gly977fs) rs1906843530
NM_000088.4(COL1A1):c.2929G>A (p.Gly977Ser)
NM_000088.4(COL1A1):c.2931C>A (p.Gly977=) rs374615784
NM_000088.4(COL1A1):c.2933C>T (p.Pro978Leu) rs2144548775
NM_000088.4(COL1A1):c.2934C>T (p.Pro978=)
NM_000088.4(COL1A1):c.2934del (p.Ser979fs) rs1114167395
NM_000088.4(COL1A1):c.2935del (p.Ser979fs) rs1906842230
NM_000088.4(COL1A1):c.2937+15C>T
NM_000088.4(COL1A1):c.2937+19T>C
NM_000088.4(COL1A1):c.2937+8C>G
NM_000088.4(COL1A1):c.2937+9C>T rs1555572393
NM_000088.4(COL1A1):c.2938-13_2938-10del
NM_000088.4(COL1A1):c.2938-1G>A
NM_000088.4(COL1A1):c.2938-1G>C
NM_000088.4(COL1A1):c.2938-2A>G
NM_000088.4(COL1A1):c.2938-7C>G
NM_000088.4(COL1A1):c.2947G>A (p.Gly983Ser) rs2144548099
NM_000088.4(COL1A1):c.2949C>T (p.Gly983=)
NM_000088.4(COL1A1):c.294C>T (p.Gly98=)
NM_000088.4(COL1A1):c.2953C>A (p.Gln985Lys)
NM_000088.4(COL1A1):c.295_298+4dup rs2144593648
NM_000088.4(COL1A1):c.2974G>A (p.Gly992Ser)
NM_000088.4(COL1A1):c.298+10_298+43del
NM_000088.4(COL1A1):c.298+11G>A
NM_000088.4(COL1A1):c.298+15G>C
NM_000088.4(COL1A1):c.298+17G>A
NM_000088.4(COL1A1):c.298+18G>A
NM_000088.4(COL1A1):c.298+1G>A rs2144593670
NM_000088.4(COL1A1):c.298+20C>T
NM_000088.4(COL1A1):c.298+2T>A
NM_000088.4(COL1A1):c.2980C>T (p.Arg994Cys)
NM_000088.4(COL1A1):c.2982T>C (p.Arg994=) rs1598288661
NM_000088.4(COL1A1):c.2985del (p.Pro997fs) rs1906818829
NM_000088.4(COL1A1):c.2989C>T (p.Pro997Ser)
NM_000088.4(COL1A1):c.298G>T (p.Glu100Ter) rs2144593675
NM_000088.4(COL1A1):c.299-1G>C
NM_000088.4(COL1A1):c.299-1G>T
NM_000088.4(COL1A1):c.299-3T>G rs1598301620
NM_000088.4(COL1A1):c.299-4C>A
NM_000088.4(COL1A1):c.299-4C>T rs780745594
NM_000088.4(COL1A1):c.2990del (p.Pro997fs) rs1598288648
NM_000088.4(COL1A1):c.29T>C (p.Leu10Pro)
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.3016G>T (p.Ala1006Ser)
NM_000088.4(COL1A1):c.3020del (p.Gly1007fs) rs2144547600
NM_000088.4(COL1A1):c.3023C>G (p.Pro1008Arg) rs1484351533
NM_000088.4(COL1A1):c.3023C>T (p.Pro1008Leu) rs1484351533
NM_000088.4(COL1A1):c.3026C>T (p.Pro1009Leu)
NM_000088.4(COL1A1):c.3026del (p.Pro1009fs) rs1114167396
NM_000088.4(COL1A1):c.3034del (p.Ser1012fs)
NM_000088.4(COL1A1):c.3045+15G>A rs2144547381
NM_000088.4(COL1A1):c.3045+18C>T
NM_000088.4(COL1A1):c.3045+1G>A rs1114167382
NM_000088.4(COL1A1):c.3045+1del rs2144547449
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3046-20CT[7] rs138425306
NM_000088.4(COL1A1):c.3046-20CT[9] rs138425306
NM_000088.4(COL1A1):c.3046-2A>C
NM_000088.4(COL1A1):c.3046-2A>T rs72653171
NM_000088.4(COL1A1):c.3046-4G>T
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>A (p.Glu1021Lys)
NM_000088.4(COL1A1):c.3061G>T (p.Glu1021Ter) rs139593707
NM_000088.4(COL1A1):c.3061_3068del (p.Glu1021fs) rs2144546781
NM_000088.4(COL1A1):c.3065G>C (p.Gly1022Ala) rs67771061
NM_000088.4(COL1A1):c.3065G>T (p.Gly1022Val) rs67771061
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.3077G>A (p.Arg1026Gln)
NM_000088.4(COL1A1):c.3081C>T (p.Asp1027=)
NM_000088.4(COL1A1):c.3082G>A (p.Gly1028Ser)
NM_000088.4(COL1A1):c.3099+10C>T
NM_000088.4(COL1A1):c.3099+12A>G
NM_000088.4(COL1A1):c.3099+13C>T
NM_000088.4(COL1A1):c.3099+17C>T
NM_000088.4(COL1A1):c.3099+1G>A rs1555572316
NM_000088.4(COL1A1):c.3100-10T>A rs1598288122
NM_000088.4(COL1A1):c.3100-11C>T
NM_000088.4(COL1A1):c.3100-15T>C rs2144546220
NM_000088.4(COL1A1):c.3100-17C>T
NM_000088.4(COL1A1):c.3100-18C>A rs1906776879
NM_000088.4(COL1A1):c.3100-1G>A rs1906773628
NM_000088.4(COL1A1):c.3100-6C>A
NM_000088.4(COL1A1):c.3100-8C>A
NM_000088.4(COL1A1):c.3107G>A (p.Arg1036His)
NM_000088.4(COL1A1):c.310G>A (p.Asp104Asn)
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.3122C>T (p.Pro1041Leu) rs1906769403
NM_000088.4(COL1A1):c.3123del (p.Ala1042fs) rs886039693
NM_000088.4(COL1A1):c.3126_3130dup (p.Pro1044fs)
NM_000088.4(COL1A1):c.3128G>C (p.Gly1043Ala) rs1906767501
NM_000088.4(COL1A1):c.3135del (p.Gly1046fs) rs1598288002
NM_000088.4(COL1A1):c.3139G>C (p.Ala1047Pro) rs544409032
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.3152C>T (p.Pro1051Leu) rs2144545694
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.3161C>T (p.Pro1054Leu)
NM_000088.4(COL1A1):c.3162del (p.Gly1055fs) rs72654794
NM_000088.4(COL1A1):c.3168dup (p.Val1057fs)
NM_000088.4(COL1A1):c.316G>T (p.Glu106Ter) rs2144592516
NM_000088.4(COL1A1):c.316dup (p.Glu106fs)
NM_000088.4(COL1A1):c.3176del (p.Pro1059fs)
NM_000088.4(COL1A1):c.3176dup (p.Ala1060fs)
NM_000088.4(COL1A1):c.3183C>T (p.Gly1061=) rs1598287862
NM_000088.4(COL1A1):c.3189del (p.Ser1063fs)
NM_000088.4(COL1A1):c.3191del (p.Gly1064fs)
NM_000088.4(COL1A1):c.319ACC[1] (p.Thr108del)
NM_000088.4(COL1A1):c.319_322dup (p.Thr108fs)
NM_000088.4(COL1A1):c.3207+12G>A
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.3207+4A>T rs2144545163
NM_000088.4(COL1A1):c.3207+8G>T rs866785621
NM_000088.4(COL1A1):c.3208-15C>T
NM_000088.4(COL1A1):c.3208-2A>C
NM_000088.4(COL1A1):c.3208-4C>A rs1221398462
NM_000088.4(COL1A1):c.3208-56_3215del
NM_000088.4(COL1A1):c.3213T>C (p.Pro1071=)
NM_000088.4(COL1A1):c.321C>T (p.Thr107=)
NM_000088.4(COL1A1):c.3223G>C (p.Ala1075Pro)
NM_000088.4(COL1A1):c.3223G>T (p.Ala1075Ser)
NM_000088.4(COL1A1):c.3225C>A (p.Ala1075=)
NM_000088.4(COL1A1):c.3225C>T (p.Ala1075=)
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.3233T>A (p.Val1078Asp)
NM_000088.4(COL1A1):c.3233_3236del (p.Val1078fs) rs1114167398
NM_000088.4(COL1A1):c.3234C>T (p.Val1078=)
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser) rs72654802
NM_000088.4(COL1A1):c.3237C>T (p.Gly1079=)
NM_000088.4(COL1A1):c.3238C>T (p.Pro1080Ser)
NM_000088.4(COL1A1):c.3238_3246dup (p.Gly1082_Ala1083insProValGly)
NM_000088.4(COL1A1):c.3243dup (p.Gly1082fs)
NM_000088.4(COL1A1):c.3245del (p.Gly1082fs) rs1555572161
NM_000088.4(COL1A1):c.3250C>T (p.Arg1084Cys)
NM_000088.4(COL1A1):c.3250del (p.Arg1084fs) rs2144543514
NM_000088.4(COL1A1):c.3251G>T (p.Arg1084Leu)
NM_000088.4(COL1A1):c.3252T>G (p.Arg1084=)
NM_000088.4(COL1A1):c.3255C>A (p.Gly1085=) rs369670483
NM_000088.4(COL1A1):c.3256C>T (p.Pro1086Ser)
NM_000088.4(COL1A1):c.325G>A (p.Gly109Ser) rs762315953
NM_000088.4(COL1A1):c.3261+11T>C
NM_000088.4(COL1A1):c.3261+18T>C
NM_000088.4(COL1A1):c.3261+20C>G rs751540399
NM_000088.4(COL1A1):c.3261+2dup rs1598287275
NM_000088.4(COL1A1):c.3261+9C>A
NM_000088.4(COL1A1):c.3261C>T (p.Ala1087=)
NM_000088.4(COL1A1):c.3261del (p.Gly1088fs) rs2144543361
NM_000088.4(COL1A1):c.3262-15C>T
NM_000088.4(COL1A1):c.3262-17C>T
NM_000088.4(COL1A1):c.3262-1G>A rs2144542880
NM_000088.4(COL1A1):c.3262-20T>A rs1906706503
NM_000088.4(COL1A1):c.3268C>T (p.Gln1090Ter) rs2144542850
NM_000088.4(COL1A1):c.3269A>C (p.Gln1090Pro) rs1906705094
NM_000088.4(COL1A1):c.3275C>T (p.Pro1092Leu)
NM_000088.4(COL1A1):c.3277dup (p.Arg1093fs)
NM_000088.4(COL1A1):c.3279T>G (p.Arg1093=)
NM_000088.4(COL1A1):c.3283_3284dup (p.Asp1095fs) rs1555572121
NM_000088.4(COL1A1):c.3285dup (p.Lys1096fs) rs1555572120
NM_000088.4(COL1A1):c.3300C>A (p.Gly1100=)
NM_000088.4(COL1A1):c.3301G>A (p.Glu1101Lys)
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.3310G>A (p.Asp1104Asn)
NM_000088.4(COL1A1):c.3313A>G (p.Arg1105Gly) rs1555572101
NM_000088.4(COL1A1):c.3315_3316del (p.Gly1106fs)
NM_000088.4(COL1A1):c.3319A>T (p.Ile1107Leu)
NM_000088.4(COL1A1):c.3327T>C (p.Gly1109=)
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.333+3A>C rs1555575205
NM_000088.4(COL1A1):c.3330C>A (p.His1110Gln)
NM_000088.4(COL1A1):c.3331C>T (p.Arg1111Cys) rs2144542395
NM_000088.4(COL1A1):c.3332G>A (p.Arg1111His)
NM_000088.4(COL1A1):c.333G>A (p.Glu111=) rs2857400
NM_000088.4(COL1A1):c.334-12C>T
NM_000088.4(COL1A1):c.334-15C>T
NM_000088.4(COL1A1):c.334-19T>C rs2144592157
NM_000088.4(COL1A1):c.334-1G>A rs1598301459
NM_000088.4(COL1A1):c.334-5C>T rs115997082
NM_000088.4(COL1A1):c.334-6C>T rs1598301467
NM_000088.4(COL1A1):c.334-9A>G rs1567764387
NM_000088.4(COL1A1):c.3345C>T (p.Gly1115=)
NM_000088.4(COL1A1):c.3347_3364del (p.Leu1116_Gly1121del) rs2144542232
NM_000088.4(COL1A1):c.334G>T (p.Gly112Ter)
NM_000088.4(COL1A1):c.3355C>A (p.Pro1119Thr)
NM_000088.4(COL1A1):c.3359del (p.Pro1120fs)
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs) rs1260429820
NM_000088.4(COL1A1):c.3365C>G (p.Pro1122Arg)
NM_000088.4(COL1A1):c.3369+10C>A
NM_000088.4(COL1A1):c.3369+15C>G
NM_000088.4(COL1A1):c.3369+16C>T
NM_000088.4(COL1A1):c.3369+1G>A rs1906695650
NM_000088.4(COL1A1):c.3369+1G>C
NM_000088.4(COL1A1):c.3369+20C>T
NM_000088.4(COL1A1):c.3369+2T>C
NM_000088.4(COL1A1):c.3369+4A>G rs2144542173
NM_000088.4(COL1A1):c.3369+4_3369+7del
NM_000088.4(COL1A1):c.3369+5G>C rs1555572075
NM_000088.4(COL1A1):c.3369+9G>T rs1009435359
NM_000088.4(COL1A1):c.3370-12_3370-11insAG
NM_000088.4(COL1A1):c.3370-13A>T
NM_000088.4(COL1A1):c.3370-18T>C
NM_000088.4(COL1A1):c.3370-7C>T
NM_000088.4(COL1A1):c.3370-9G>A
NM_000088.4(COL1A1):c.3376C>T (p.Pro1126Ser)
NM_000088.4(COL1A1):c.3377del (p.Pro1126fs)
NM_000088.4(COL1A1):c.3385C>T (p.Gln1129Ter) rs2144540723
NM_000088.4(COL1A1):c.3389G>A (p.Gly1130Asp) rs1567753699
NM_000088.4(COL1A1):c.3389del (p.Gly1130fs)
NM_000088.4(COL1A1):c.3394del (p.Ser1132fs)
NM_000088.4(COL1A1):c.3396T>G (p.Ser1132=)
NM_000088.4(COL1A1):c.3399del (p.Ala1134fs) rs1906658881
NM_000088.4(COL1A1):c.33C>G (p.Leu11=) rs1024499126
NM_000088.4(COL1A1):c.3407G>C (p.Gly1136Ala) rs1555572013
NM_000088.4(COL1A1):c.3417T>C (p.Gly1139=)
NM_000088.4(COL1A1):c.3419C>T (p.Pro1140Leu) rs2144540571
NM_000088.4(COL1A1):c.3423+9T>C
NM_000088.4(COL1A1):c.3423_3423+1del rs2144540520
NM_000088.4(COL1A1):c.3424-11C>G
NM_000088.4(COL1A1):c.3424-12C>T
NM_000088.4(COL1A1):c.3424-5T>C rs2144539347
NM_000088.4(COL1A1):c.3424-6C>G rs370865189
NM_000088.4(COL1A1):c.3429C>G (p.Pro1143=) rs762386727
NM_000088.4(COL1A1):c.3431dup (p.Gly1145fs) rs1555571942
NM_000088.4(COL1A1):c.3432del (p.Gly1145fs) rs2144539233
NM_000088.4(COL1A1):c.3445G>T (p.Ala1149Ser)
NM_000088.4(COL1A1):c.344G>A (p.Gly115Glu)
NM_000088.4(COL1A1):c.3451G>A (p.Gly1151Ser) rs72656320
NM_000088.4(COL1A1):c.3452del (p.Gly1151fs)
NM_000088.4(COL1A1):c.3459T>G (p.Asp1153Glu) rs1800218
NM_000088.4(COL1A1):c.345A>T (p.Gly115=) rs1907874908
NM_000088.4(COL1A1):c.3463del (p.Leu1155fs)
NM_000088.4(COL1A1):c.3465C>G (p.Leu1155=)
NM_000088.4(COL1A1):c.3468C>G (p.Asn1156Lys)
NM_000088.4(COL1A1):c.3470G>A (p.Gly1157Asp) rs72656323
NM_000088.4(COL1A1):c.3471T>G (p.Gly1157=) rs2144538994
NM_000088.4(COL1A1):c.347A>G (p.Asp116Gly) rs1907874708
NM_000088.4(COL1A1):c.3481C>A (p.Pro1161Thr)
NM_000088.4(COL1A1):c.3486T>A (p.Ile1162=)
NM_000088.4(COL1A1):c.3487G>A (p.Gly1163Arg) rs1567753329
NM_000088.4(COL1A1):c.3490C>A (p.Pro1164Thr)
NM_000088.4(COL1A1):c.3491C>A (p.Pro1164His)
NM_000088.4(COL1A1):c.3491C>T (p.Pro1164Leu)
NM_000088.4(COL1A1):c.3492C>A (p.Pro1164=)
NM_000088.4(COL1A1):c.3494del (p.Pro1165fs) rs1598286050
NM_000088.4(COL1A1):c.3494dup (p.Gly1166fs) rs1598286050
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs) rs1555571916
NM_000088.4(COL1A1):c.3496G>A (p.Gly1166Ser) rs72656324
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.4(COL1A1):c.3508C>T (p.Arg1170Cys) rs1373318649
NM_000088.4(COL1A1):c.3509G>A (p.Arg1170His)
NM_000088.4(COL1A1):c.351dup (p.Gly118fs)
NM_000088.4(COL1A1):c.3531+10C>T rs41316721
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+3A>T rs1906604888
NM_000088.4(COL1A1):c.3531+5G>A rs72656327
NM_000088.4(COL1A1):c.3531+6T>C
NM_000088.4(COL1A1):c.3532-14C>T
NM_000088.4(COL1A1):c.3532-18T>C rs1906596208
NM_000088.4(COL1A1):c.3532-1G>T
NM_000088.4(COL1A1):c.3532-8C>T rs1555571885
NM_000088.4(COL1A1):c.3534T>A (p.Gly1178=)
NM_000088.4(COL1A1):c.3535C>T (p.Pro1179Ser)
NM_000088.4(COL1A1):c.3540C>T (p.Pro1180=)
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.3545C>A (p.Pro1182His)
NM_000088.4(COL1A1):c.354C>T (p.Gly118=)
NM_000088.4(COL1A1):c.3552_3560del (p.1178GPP[4])
NM_000088.4(COL1A1):c.3564C>G (p.Pro1188=)
NM_000088.4(COL1A1):c.3566C>A (p.Pro1189His) rs1555571859
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.356C>G (p.Pro119Arg)
NM_000088.4(COL1A1):c.3578G>A (p.Ser1193Asn) rs1567753025
NM_000088.4(COL1A1):c.3585T>C (p.Gly1195=) rs1906585690
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.3594C>T (p.Phe1198=)
NM_000088.4(COL1A1):c.35T>C (p.Leu12Pro) rs1555575857
NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg) rs1555575857
NM_000088.4(COL1A1):c.3607C>T (p.Gln1203Ter) rs1114167399
NM_000088.4(COL1A1):c.3610C>A (p.Pro1204Thr) rs983970706
NM_000088.4(COL1A1):c.3618A>G (p.Gln1206=)
NM_000088.4(COL1A1):c.3637G>A (p.Gly1213Ser)
NM_000088.4(COL1A1):c.3638del (p.Gly1213fs) rs2144537204
NM_000088.4(COL1A1):c.3640C>T (p.Arg1214Cys) rs2144537191
NM_000088.4(COL1A1):c.3641del (p.Arg1214fs) rs1567752926
NM_000088.4(COL1A1):c.3645C>T (p.Tyr1215=)
NM_000088.4(COL1A1):c.3647A>G (p.Tyr1216Cys) rs1555571849
NM_000088.4(COL1A1):c.3649C>T (p.Arg1217Trp) rs763727068
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.3656A>G (p.Asp1219Gly) rs2144537008
NM_000088.4(COL1A1):c.3658G>A (p.Asp1220Asn)
NM_000088.4(COL1A1):c.3661G>A (p.Ala1221Thr)
NM_000088.4(COL1A1):c.3664A>G (p.Asn1222Asp)
NM_000088.4(COL1A1):c.3668T>A (p.Val1223Glu)
NM_000088.4(COL1A1):c.3674G>A (p.Arg1225His)
NM_000088.4(COL1A1):c.3677A>G (p.Asp1226Gly)
NM_000088.4(COL1A1):c.3679C>T (p.Arg1227Cys)
NM_000088.4(COL1A1):c.367A>G (p.Arg123Gly) rs1907872277
NM_000088.4(COL1A1):c.3684C>T (p.Asp1228=)
NM_000088.4(COL1A1):c.369+15C>T rs2144591865
NM_000088.4(COL1A1):c.369+16del
NM_000088.4(COL1A1):c.3699C>T (p.Thr1233=)
NM_000088.4(COL1A1):c.370-17G>A
NM_000088.4(COL1A1):c.370-18C>T
NM_000088.4(COL1A1):c.370-1G>A rs2144591532
NM_000088.4(COL1A1):c.370-1G>T rs2144591532
NM_000088.4(COL1A1):c.370-2A>T
NM_000088.4(COL1A1):c.370-6del rs35576965
NM_000088.4(COL1A1):c.3701C>G (p.Thr1234Ser)
NM_000088.4(COL1A1):c.3701C>T (p.Thr1234Ile)
NM_000088.4(COL1A1):c.3711_3712delinsG (p.Ser1237fs) rs2144536639
NM_000088.4(COL1A1):c.3713_3719dup (p.Gln1240fs)
NM_000088.4(COL1A1):c.3714G>A (p.Leu1238=)
NM_000088.4(COL1A1):c.3721del (p.Gln1241fs)
NM_000088.4(COL1A1):c.3726C>A (p.Ile1242=) rs768572265
NM_000088.4(COL1A1):c.3726C>T (p.Ile1242=) rs768572265
NM_000088.4(COL1A1):c.3732C>T (p.Asn1244=) rs994196345
NM_000088.4(COL1A1):c.3737G>A (p.Arg1246Gln)
NM_000088.4(COL1A1):c.3748_3752dup (p.Ser1251fs) rs1114167400
NM_000088.4(COL1A1):c.3749del (p.Gly1250fs) rs1906565901
NM_000088.4(COL1A1):c.3754C>A (p.Arg1252Ser) rs781614679
NM_000088.4(COL1A1):c.3755G>T (p.Arg1252Leu)
NM_000088.4(COL1A1):c.3758A>G (p.Lys1253Arg)
NM_000088.4(COL1A1):c.375C>T (p.Pro125=)
NM_000088.4(COL1A1):c.3766G>T (p.Ala1256Ser)
NM_000088.4(COL1A1):c.3768_3769dup (p.Arg1257fs) rs1906559620
NM_000088.4(COL1A1):c.376G>T (p.Ala126Ser) rs1424117367
NM_000088.4(COL1A1):c.376_383del (p.Ala126fs)
NM_000088.4(COL1A1):c.3770G>A (p.Arg1257His)
NM_000088.4(COL1A1):c.3788del (p.Lys1263fs) rs1114167401
NM_000088.4(COL1A1):c.3790A>G (p.Met1264Val) rs72656340
NM_000088.4(COL1A1):c.3795C>T (p.Cys1265=)
NM_000088.4(COL1A1):c.3798C>G (p.His1266Gln)
NM_000088.4(COL1A1):c.3798C>T (p.His1266=) rs1567752621
NM_000088.4(COL1A1):c.3802G>A (p.Asp1268Asn) rs1598285285
NM_000088.4(COL1A1):c.3806G>A (p.Trp1269Ter) rs72656341
NM_000088.4(COL1A1):c.3807G>A (p.Trp1269Ter)
NM_000088.4(COL1A1):c.3809A>C (p.Lys1270Thr)
NM_000088.4(COL1A1):c.380del (p.Gly127fs) rs2144591470
NM_000088.4(COL1A1):c.3812G>T (p.Ser1271Ile)
NM_000088.4(COL1A1):c.3814+18C>T
NM_000088.4(COL1A1):c.3814+19C>A
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.3815-11C>T
NM_000088.4(COL1A1):c.3815-1G>A
NM_000088.4(COL1A1):c.3815-7_3815-6insT rs1598285133
NM_000088.4(COL1A1):c.3815-8T>A rs1598285150
NM_000088.4(COL1A1):c.3815G>A (p.Gly1272Glu)
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.381C>A (p.Gly127=)
NM_000088.4(COL1A1):c.381C>T (p.Gly127=)
NM_000088.4(COL1A1):c.3820_3821dup (p.Trp1275fs) rs1598285120
NM_000088.4(COL1A1):c.3821A>C (p.Tyr1274Ser) rs1906537608
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.3825G>T (p.Trp1275Cys)
NM_000088.4(COL1A1):c.3832C>T (p.Pro1278Ser)
NM_000088.4(COL1A1):c.3834del (p.Asn1279fs)
NM_000088.4(COL1A1):c.3837C>T (p.Asn1279=)
NM_000088.4(COL1A1):c.384C>A (p.Pro128=) rs1907857933
NM_000088.4(COL1A1):c.3855T>A (p.Asp1285Glu) rs1598285068
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser) rs761672800
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.3878T>C (p.Met1293Thr)
NM_000088.4(COL1A1):c.387del (p.Gly130fs) rs1555575086
NM_000088.4(COL1A1):c.3882G>A (p.Glu1294=)
NM_000088.4(COL1A1):c.3883A>T (p.Thr1295Ser)
NM_000088.4(COL1A1):c.3887G>T (p.Gly1296Val) rs1906529531
NM_000088.4(COL1A1):c.3893C>A (p.Thr1298Asn) rs1555571755
NM_000088.4(COL1A1):c.3895T>A (p.Cys1299Ser) rs1567752383
NM_000088.4(COL1A1):c.3898G>A (p.Val1300Met)
NM_000088.4(COL1A1):c.3900G>A (p.Val1300=) rs1337482864
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.3914C>T (p.Pro1305Leu) rs201746814
NM_000088.4(COL1A1):c.3917G>C (p.Ser1306Thr) rs754753032
NM_000088.4(COL1A1):c.391C>T (p.Arg131Ter) rs776611767
NM_000088.4(COL1A1):c.3928A>T (p.Lys1310Ter)
NM_000088.4(COL1A1):c.3935G>A (p.Trp1312Ter) rs886039880
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.3952C>G (p.Pro1318Ala)
NM_000088.4(COL1A1):c.3952_3954del (p.Pro1318del) rs1451296434
NM_000088.4(COL1A1):c.3963G>C (p.Lys1321Asn) rs764729498
NM_000088.4(COL1A1):c.3965G>C (p.Arg1322Thr) rs138544681
NM_000088.4(COL1A1):c.3967C>T (p.His1323Tyr)
NM_000088.4(COL1A1):c.3969T>C (p.His1323=)
NM_000088.4(COL1A1):c.3975G>T (p.Trp1325Cys) rs2144534276
NM_000088.4(COL1A1):c.3981C>T (p.Gly1327=)
NM_000088.4(COL1A1):c.3988A>G (p.Met1330Val)
NM_000088.4(COL1A1):c.3994del (p.Asp1332fs)
NM_000088.4(COL1A1):c.3995A>G (p.Asp1332Gly)
NM_000088.4(COL1A1):c.3996T>C (p.Asp1332=) rs1555571730
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+10C>G
NM_000088.4(COL1A1):c.4005+1G>C
NM_000088.4(COL1A1):c.4005+4C>T rs528349466
NM_000088.4(COL1A1):c.4005+9G>A
NM_000088.4(COL1A1):c.4006-11C>A
NM_000088.4(COL1A1):c.4006-12C>G rs778644341
NM_000088.4(COL1A1):c.4006-1G>A
NM_000088.4(COL1A1):c.4006-20del rs1194886388
NM_000088.4(COL1A1):c.4006-2A>G
NM_000088.4(COL1A1):c.4006-9C>A
NM_000088.4(COL1A1):c.4006-9C>T rs193922156
NM_000088.4(COL1A1):c.4011G>A (p.Glu1337=)
NM_000088.4(COL1A1):c.4014del (p.Glu1337_Tyr1338insTer) rs1906488067
NM_000088.4(COL1A1):c.4017C>A (p.Gly1339=) rs201256042
NM_000088.4(COL1A1):c.4018G>T (p.Gly1340Cys)
NM_000088.4(COL1A1):c.401dup (p.Gly136fs)
NM_000088.4(COL1A1):c.4020C>G (p.Gly1340=)
NM_000088.4(COL1A1):c.4030G>C (p.Asp1344His) rs371547661
NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn)
NM_000088.4(COL1A1):c.4046C>A (p.Ala1349Asp)
NM_000088.4(COL1A1):c.4050C>G (p.Ile1350Met)
NM_000088.4(COL1A1):c.4051C>T (p.Gln1351Ter)
NM_000088.4(COL1A1):c.4054C>G (p.Leu1352Val) rs1906478020
NM_000088.4(COL1A1):c.4056_4060del (p.Thr1353fs)
NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn) rs982770651
NM_000088.4(COL1A1):c.4058C>T (p.Thr1353Ile)
NM_000088.4(COL1A1):c.405T>C (p.Pro135=)
NM_000088.4(COL1A1):c.4061T>G (p.Phe1354Cys)
NM_000088.4(COL1A1):c.4063del (p.Leu1355fs)
NM_000088.4(COL1A1):c.4066C>A (p.Arg1356Ser) rs1341595487
NM_000088.4(COL1A1):c.4066delinsGTGTCCTGGAAG (p.Arg1356fs)
NM_000088.4(COL1A1):c.4070_4206dup (p.Asn1403Ter)
NM_000088.4(COL1A1):c.4081G>A (p.Glu1361Lys) rs141011435
NM_000088.4(COL1A1):c.4081G>C (p.Glu1361Gln) rs141011435
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.409C>T (p.Gln137Ter)
NM_000088.4(COL1A1):c.4100C>A (p.Thr1367Asn) rs2144532190
NM_000088.4(COL1A1):c.4103A>G (p.Tyr1368Cys)
NM_000088.4(COL1A1):c.4135C>T (p.Gln1379Ter)
NM_000088.4(COL1A1):c.413_419dup (p.Pro141fs)
NM_000088.4(COL1A1):c.4148A>G (p.Asn1383Ser) rs1555571631
NM_000088.4(COL1A1):c.414T>G (p.Pro138=) rs2144591197
NM_000088.4(COL1A1):c.4154A>G (p.Lys1385Arg)
NM_000088.4(COL1A1):c.4155G>A (p.Lys1385=)
NM_000088.4(COL1A1):c.4159G>A (p.Ala1387Thr) rs1598284183
NM_000088.4(COL1A1):c.415G>T (p.Gly139Ter)
NM_000088.4(COL1A1):c.4163T>C (p.Leu1388Pro) rs72656348
NM_000088.4(COL1A1):c.4166T>C (p.Leu1389Pro) rs2144531821
NM_000088.4(COL1A1):c.4177T>A (p.Ser1393Thr)
NM_000088.4(COL1A1):c.4178C>T (p.Ser1393Phe) rs774210351
NM_000088.4(COL1A1):c.4183G>A (p.Glu1395Lys) rs373474549
NM_000088.4(COL1A1):c.4183G>T (p.Glu1395Ter)
NM_000088.4(COL1A1):c.4191G>T (p.Glu1397Asp)
NM_000088.4(COL1A1):c.4192A>G (p.Ile1398Val)
NM_000088.4(COL1A1):c.4193T>G (p.Ile1398Ser)
NM_000088.4(COL1A1):c.419_420delinsCC (p.Leu140Pro) rs1555575068
NM_000088.4(COL1A1):c.4226G>T (p.Ser1409Ile) rs1906453973
NM_000088.4(COL1A1):c.4236C>T (p.Val1412=) rs532172482
NM_000088.4(COL1A1):c.4237G>A (p.Asp1413Asn) rs72656349
NM_000088.4(COL1A1):c.4239T>A (p.Asp1413Glu) rs754555549
NM_000088.4(COL1A1):c.4239T>C (p.Asp1413=)
NM_000088.4(COL1A1):c.4241G>T (p.Gly1414Val)
NM_000088.4(COL1A1):c.4242C>T (p.Gly1414=)
NM_000088.4(COL1A1):c.4247C>T (p.Thr1416Met) rs1906450804
NM_000088.4(COL1A1):c.4248+17C>T
NM_000088.4(COL1A1):c.4248+2T>C rs112274185
NM_000088.4(COL1A1):c.4248+3G>A
NM_000088.4(COL1A1):c.4248+6T>C
NM_000088.4(COL1A1):c.4249-14C>T rs756459768
NM_000088.4(COL1A1):c.4249-6C>T
NM_000088.4(COL1A1):c.424G>A (p.Gly142Arg) rs1567764128
NM_000088.4(COL1A1):c.4253A>G (p.His1418Arg)
NM_000088.4(COL1A1):c.4285T>C (p.Tyr1429His)
NM_000088.4(COL1A1):c.4292C>T (p.Thr1431Ile) rs1114167403
NM_000088.4(COL1A1):c.4293C>T (p.Thr1431=)
NM_000088.4(COL1A1):c.4296C>T (p.Thr1432=)
NM_000088.4(COL1A1):c.429C>T (p.Pro143=)
NM_000088.4(COL1A1):c.429CCCCGGACC[1] (p.143PPG[3]) rs769867566
NM_000088.4(COL1A1):c.429CCCCGGACC[3] (p.143PPG[5]) rs769867566
NM_000088.4(COL1A1):c.4317C>G (p.Ile1439Met)
NM_000088.4(COL1A1):c.4320C>G (p.Ile1440Met) rs770326881
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.4323T>A (p.Asp1441Glu)
NM_000088.4(COL1A1):c.4323T>C (p.Asp1441=)
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.4329C>G (p.Ala1443=)
NM_000088.4(COL1A1):c.4329_4332dup (p.Leu1445fs) rs1114167405
NM_000088.4(COL1A1):c.432C>T (p.Pro144=)
NM_000088.4(COL1A1):c.432_458del (p.143PPG[1]) rs2144590892
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.4334T>C (p.Leu1445Ser)
NM_000088.4(COL1A1):c.433G>A (p.Gly145Arg) rs1907850821
NM_000088.4(COL1A1):c.4340T>G (p.Val1447Gly) rs972891143
NM_000088.4(COL1A1):c.4343G>A (p.Gly1448Asp) rs2144529623
NM_000088.4(COL1A1):c.4347C>T (p.Ala1449=)
NM_000088.4(COL1A1):c.4356_4359dup (p.Phe1454fs)
NM_000088.4(COL1A1):c.4358_4362del (p.Glu1453fs) rs72656352
NM_000088.4(COL1A1):c.4361T>C (p.Phe1454Ser) rs2144529534
NM_000088.4(COL1A1):c.4363G>A (p.Gly1455Ser)
NM_000088.4(COL1A1):c.4367T>G (p.Phe1456Cys)
NM_000088.4(COL1A1):c.4368C>G (p.Phe1456Leu) rs765224053
NM_000088.4(COL1A1):c.4369G>C (p.Asp1457His)
NM_000088.4(COL1A1):c.436C>A (p.Pro146Thr) rs756846639
NM_000088.4(COL1A1):c.436C>G (p.Pro146Ala) rs756846639
NM_000088.4(COL1A1):c.436C>T (p.Pro146Ser)
NM_000088.4(COL1A1):c.4371C>T (p.Asp1457=) rs112873723
NM_000088.4(COL1A1):c.4386del (p.Phe1463fs) rs1114167406
NM_000088.4(COL1A1):c.4391T>C (p.Leu1464Pro) rs72656353
NM_000088.4(COL1A1):c.4392G>A (p.Leu1464=)
NM_000088.4(COL1A1):c.439C>T (p.Pro147Ser)
NM_000088.4(COL1A1):c.441_458del (p.143PPG[2]) rs1315804923
NM_000088.4(COL1A1):c.441_458dup (p.Gly154_Leu155insProProGlyProProGly)
NM_000088.4(COL1A1):c.441del (p.Gly148fs) rs1473458290
NM_000088.4(COL1A1):c.447TCCCGGACC[3] (p.143PPG[6]) rs1333144999
NM_000088.4(COL1A1):c.447_455del (p.143PPG[3])
NM_000088.4(COL1A1):c.451G>A (p.Gly151Arg)
NM_000088.4(COL1A1):c.452dup (p.Pro152fs) rs2144590955
NM_000088.4(COL1A1):c.454C>A (p.Pro152Thr) rs1221734311
NM_000088.4(COL1A1):c.457C>T (p.Pro153Ser)
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.462C>A (p.Gly154=)
NM_000088.4(COL1A1):c.466G>A (p.Gly156Arg)
NM_000088.4(COL1A1):c.471+5G>A rs1555575015
NM_000088.4(COL1A1):c.471+5G>T rs1555575015
NM_000088.4(COL1A1):c.471+9AG[4]
NM_000088.4(COL1A1):c.472-13T>C
NM_000088.4(COL1A1):c.472-13_472-12del rs1210027118
NM_000088.4(COL1A1):c.472-4C>G rs753888456
NM_000088.4(COL1A1):c.481_499dup (p.Tyr167fs) rs1555574871
NM_000088.4(COL1A1):c.486G>A (p.Gln162=)
NM_000088.4(COL1A1):c.487C>T (p.Leu163=)
NM_000088.4(COL1A1):c.488T>C (p.Leu163Pro)
NM_000088.4(COL1A1):c.501T>C (p.Tyr167=) rs946705319
NM_000088.4(COL1A1):c.504T>A (p.Asp168Glu)
NM_000088.4(COL1A1):c.510del (p.Lys170fs) rs1907793241
NM_000088.4(COL1A1):c.514del (p.Thr172fs)
NM_000088.4(COL1A1):c.516C>A (p.Thr172=)
NM_000088.4(COL1A1):c.516C>T (p.Thr172=) rs377195143
NM_000088.4(COL1A1):c.517G>A (p.Gly173Arg)
NM_000088.4(COL1A1):c.517G>T (p.Gly173Ter) rs193922157
NM_000088.4(COL1A1):c.521G>A (p.Gly174Glu)
NM_000088.4(COL1A1):c.529G>A (p.Val177Met)
NM_000088.4(COL1A1):c.52_53insA (p.Leu18fs) rs2144600428
NM_000088.4(COL1A1):c.530T>C (p.Val177Ala)
NM_000088.4(COL1A1):c.543+15G>A
NM_000088.4(COL1A1):c.543+18G>C
NM_000088.4(COL1A1):c.543+1G>A rs2144588841
NM_000088.4(COL1A1):c.543+1G>T rs2144588841
NM_000088.4(COL1A1):c.543+1del
NM_000088.4(COL1A1):c.543+4A>G rs1555574855
NM_000088.4(COL1A1):c.543+5G>A rs1907787005
NM_000088.4(COL1A1):c.543+5G>C 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.544-19dup
NM_000088.4(COL1A1):c.544-2A>G
NM_000088.4(COL1A1):c.544-2del rs2144587964
NM_000088.4(COL1A1):c.544-5T>C rs1598300378
NM_000088.4(COL1A1):c.544-6C>T
NM_000088.4(COL1A1):c.544G>T (p.Gly182Cys)
NM_000088.4(COL1A1):c.545G>T (p.Gly182Val)
NM_000088.4(COL1A1):c.551C>T (p.Ser184Phe)
NM_000088.4(COL1A1):c.552T>G (p.Ser184=)
NM_000088.4(COL1A1):c.554del (p.Gly185fs)
NM_000088.4(COL1A1):c.557C>T (p.Pro186Leu) rs1555574809
NM_000088.4(COL1A1):c.560G>A (p.Arg187His)
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.572G>T (p.Gly191Val) rs67828806
NM_000088.4(COL1A1):c.572del (p.Gly191fs) rs1567763447
NM_000088.4(COL1A1):c.576C>T (p.Pro192=) rs747650152
NM_000088.4(COL1A1):c.577C>G (p.Pro193Ala) rs2144587738
NM_000088.4(COL1A1):c.577_578del (p.Pro193fs)
NM_000088.4(COL1A1):c.578del (p.Pro193fs) rs1598300304
NM_000088.4(COL1A1):c.578dup (p.Gly194fs) rs1598300304
NM_000088.4(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.4(COL1A1):c.582del (p.Ala195fs) rs2144587690
NM_000088.4(COL1A1):c.588+15C>G rs371817394
NM_000088.4(COL1A1):c.588+1G>A rs72667025
NM_000088.4(COL1A1):c.588+5G>A
NM_000088.4(COL1A1):c.588+5G>C
NM_000088.4(COL1A1):c.588+7A>T
NM_000088.4(COL1A1):c.589-13C>T
NM_000088.4(COL1A1):c.589-18T>A
NM_000088.4(COL1A1):c.589-19C>A
NM_000088.4(COL1A1):c.589-2A>G rs72667027
NM_000088.4(COL1A1):c.589-7TC[3]
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.618T>A (p.Gly206=)
NM_000088.4(COL1A1):c.619dup (p.Glu207fs)
NM_000088.4(COL1A1):c.622C>G (p.Pro208Ala)
NM_000088.4(COL1A1):c.622_642+3delinsGGGGGGAGCACTGTATAG
NM_000088.4(COL1A1):c.625G>A (p.Gly209Ser) rs2144586877
NM_000088.4(COL1A1):c.626G>A (p.Gly209Asp) rs1907746069
NM_000088.4(COL1A1):c.626G>C (p.Gly209Ala) rs1907746069
NM_000088.4(COL1A1):c.627C>A (p.Gly209=) rs201136122
NM_000088.4(COL1A1):c.627C>G (p.Gly209=)
NM_000088.4(COL1A1):c.632C>T (p.Pro211Leu) rs892540136
NM_000088.4(COL1A1):c.634G>A (p.Gly212Arg)
NM_000088.4(COL1A1):c.639T>A (p.Ala213=)
NM_000088.4(COL1A1):c.642+13T>C
NM_000088.4(COL1A1):c.642+14A>G
NM_000088.4(COL1A1):c.642+16A>G
NM_000088.4(COL1A1):c.642+2T>A rs2144586769
NM_000088.4(COL1A1):c.643-11A>G rs1454517926
NM_000088.4(COL1A1):c.643-15T>C rs1907724881
NM_000088.4(COL1A1):c.643-17T>C
NM_000088.4(COL1A1):c.643-1G>A rs2144586155
NM_000088.4(COL1A1):c.643-20_643-19del
NM_000088.4(COL1A1):c.643-9C>A rs1907724010
NM_000088.4(COL1A1):c.644G>T (p.Gly215Val) rs1907723511
NM_000088.4(COL1A1):c.64G>C (p.Gly22Arg) rs72667007
NM_000088.4(COL1A1):c.650T>C (p.Met217Thr) rs2144586081
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.656C>G (p.Pro219Arg)
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_000088.4(COL1A1):c.659G>A (p.Arg220Gln)
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.668C>G (p.Pro223Arg) rs2144585941
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.679G>A (p.Gly227Arg) rs1567763007
NM_000088.4(COL1A1):c.680G>A (p.Gly227Glu) rs2144585835
NM_000088.4(COL1A1):c.694G>C (p.Asp232His)
NM_000088.4(COL1A1):c.696+11C>T
NM_000088.4(COL1A1):c.696+1G>A rs2144585785
NM_000088.4(COL1A1):c.696+3A>G
NM_000088.4(COL1A1):c.696+5G>A
NM_000088.4(COL1A1):c.696+5del
NM_000088.4(COL1A1):c.696+9C>A
NM_000088.4(COL1A1):c.697-1G>A rs67163049
NM_000088.4(COL1A1):c.697-1G>C rs67163049
NM_000088.4(COL1A1):c.697-2A>C
NM_000088.4(COL1A1):c.697-2A>T
NM_000088.4(COL1A1):c.697-2_697-1del rs67163050
NM_000088.4(COL1A1):c.697-2del
NM_000088.4(COL1A1):c.697-7C>T rs768782428
NM_000088.4(COL1A1):c.697-9C>T
NM_000088.4(COL1A1):c.698G>A (p.Gly233Glu) rs2144584170
NM_000088.4(COL1A1):c.699G>A (p.Gly233=)
NM_000088.4(COL1A1):c.69A>G (p.Gln23=) rs780775891
NM_000088.4(COL1A1):c.700G>T (p.Glu234Ter)
NM_000088.4(COL1A1):c.703G>A (p.Ala235Thr) rs1907674004
NM_000088.4(COL1A1):c.71A>G (p.Glu24Gly)
NM_000088.4(COL1A1):c.71del (p.Glu24fs) rs1908087291
NM_000088.4(COL1A1):c.721C>T (p.Pro241Ser)
NM_000088.4(COL1A1):c.722del (p.Pro241fs)
NM_000088.4(COL1A1):c.725G>T (p.Gly242Val) rs72645315
NM_000088.4(COL1A1):c.725del (p.Gly242fs)
NM_000088.4(COL1A1):c.727G>T (p.Glu243Ter) rs1907672538
NM_000088.4(COL1A1):c.730C>T (p.Arg244Cys)
NM_000088.4(COL1A1):c.731G>A (p.Arg244His)
NM_000088.4(COL1A1):c.731_732insC (p.Gly245fs) rs1555574553
NM_000088.4(COL1A1):c.738T>C (p.Pro246=)
NM_000088.4(COL1A1):c.73G>A (p.Glu25Lys)
NM_000088.4(COL1A1):c.73G>T (p.Glu25Ter)
NM_000088.4(COL1A1):c.746C>A (p.Pro249His)
NM_000088.4(COL1A1):c.750+16_750+17insGCTGTTGGTGCTTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCATGTCTCCCTGTTCCCCAAACCAAAGGGACCCAGAGTGGCAAGAGAGCAGCCCGTTCACTAACACCTTTGTCCTGGGGTCTCCGTCTCTGATCTTAGAGTCCTGATCA
NM_000088.4(COL1A1):c.750+2T>C rs1907669327
NM_000088.4(COL1A1):c.750+3G>A
NM_000088.4(COL1A1):c.750+4A>G
NM_000088.4(COL1A1):c.751-13C>T
NM_000088.4(COL1A1):c.751-1G>A rs1555574516
NM_000088.4(COL1A1):c.751-20T>G
NM_000088.4(COL1A1):c.751-2A>G rs193922158
NM_000088.4(COL1A1):c.751-2A>T
NM_000088.4(COL1A1):c.751-3C>T
NM_000088.4(COL1A1):c.752G>A (p.Gly251Asp) rs1114167410
NM_000088.4(COL1A1):c.757C>T (p.Arg253Ter) rs72645318
NM_000088.4(COL1A1):c.758G>A (p.Arg253Gln) rs1191323992
NM_000088.4(COL1A1):c.762A>T (p.Gly254=) rs759735608
NM_000088.4(COL1A1):c.766C>T (p.Pro256Ser)
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.4(COL1A1):c.769G>C (p.Gly257Arg) rs72645321
NM_000088.4(COL1A1):c.769G>T (p.Gly257Ter)
NM_000088.4(COL1A1):c.76G>A (p.Gly26Ser) rs2144600278
NM_000088.4(COL1A1):c.770G>A (p.Gly257Glu) rs1555574496
NM_000088.4(COL1A1):c.770del (p.Gly257fs) rs1555574497
NM_000088.4(COL1A1):c.774_785del (p.Ala259_Pro262del)
NM_000088.4(COL1A1):c.779G>A (p.Gly260Asp) rs1598299070
NM_000088.4(COL1A1):c.779G>T (p.Gly260Val) rs1598299070
NM_000088.4(COL1A1):c.780C>G (p.Gly260=)
NM_000088.4(COL1A1):c.783C>G (p.Leu261=) rs369971149
NM_000088.4(COL1A1):c.783C>T (p.Leu261=)
NM_000088.4(COL1A1):c.788G>A (p.Gly263Glu) rs72645324
NM_000088.4(COL1A1):c.78C>T (p.Gly26=) rs2144600259
NM_000088.4(COL1A1):c.795G>A (p.Lys265=) rs1907651576
NM_000088.4(COL1A1):c.796G>A (p.Gly266Arg) rs1555574493
NM_000088.4(COL1A1):c.796G>C (p.Gly266Arg) rs1555574493
NM_000088.4(COL1A1):c.799_802del (p.His267fs) rs1567762262
NM_000088.4(COL1A1):c.79C>T (p.Gln27Ter)
NM_000088.4(COL1A1):c.800dup (p.His267fs)
NM_000088.4(COL1A1):c.802A>T (p.Arg268Ter) rs1567762257
NM_000088.4(COL1A1):c.804+16del
NM_000088.4(COL1A1):c.804+1G>A rs1057518930
NM_000088.4(COL1A1):c.804+1G>C rs1057518930
NM_000088.4(COL1A1):c.804+20T>C
NM_000088.4(COL1A1):c.804+3G>A
NM_000088.4(COL1A1):c.804+3G>T
NM_000088.4(COL1A1):c.804+9C>A rs2144583154
NM_000088.4(COL1A1):c.805-14C>G
NM_000088.4(COL1A1):c.805-1G>A rs1598298699
NM_000088.4(COL1A1):c.805-1G>C rs1598298699
NM_000088.4(COL1A1):c.805G>A (p.Gly269Ser) rs72645328
NM_000088.4(COL1A1):c.805G>C (p.Gly269Arg) rs72645328
NM_000088.4(COL1A1):c.806G>A (p.Gly269Asp)
NM_000088.4(COL1A1):c.806G>C (p.Gly269Ala)
NM_000088.4(COL1A1):c.814G>A (p.Gly272Ser) rs72645331
NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys) rs72645331
NM_000088.4(COL1A1):c.823G>T (p.Gly275Cys) rs72645332
NM_000088.4(COL1A1):c.82_103+11del rs2144600020
NM_000088.4(COL1A1):c.833_834delinsTT (p.Gly278Val) rs1907617224
NM_000088.4(COL1A1):c.841G>A (p.Gly281Ser) rs72645334
NM_000088.4(COL1A1):c.841_848del (p.Gly281fs) rs1567761950
NM_000088.4(COL1A1):c.84C>A (p.Val28=)
NM_000088.4(COL1A1):c.851G>A (p.Gly284Asp)
NM_000088.4(COL1A1):c.851G>C (p.Gly284Ala) rs72645337
NM_000088.4(COL1A1):c.853C>G (p.Pro285Ala) rs1567761937
NM_000088.4(COL1A1):c.855T>C (p.Pro285=) rs1598298624
NM_000088.4(COL1A1):c.858+17A>G rs2144581710
NM_000088.4(COL1A1):c.858+1G>A
NM_000088.4(COL1A1):c.858+20T>A
NM_000088.4(COL1A1):c.858+4A>G
NM_000088.4(COL1A1):c.859-1G>A rs72645339
NM_000088.4(COL1A1):c.859-2A>G rs72645338
NM_000088.4(COL1A1):c.859G>A (p.Gly287Ser) rs72645340
NM_000088.4(COL1A1):c.861T>A (p.Gly287=)
NM_000088.4(COL1A1):c.862G>T (p.Glu288Ter) rs72645341
NM_000088.4(COL1A1):c.874C>T (p.Pro292Ser) rs139840296
NM_000088.4(COL1A1):c.876T>C (p.Pro292=)
NM_000088.4(COL1A1):c.878del (p.Gly293fs) rs2144581296
NM_000088.4(COL1A1):c.880G>T (p.Glu294Ter)
NM_000088.4(COL1A1):c.885T>A (p.Asn295Lys)
NM_000088.4(COL1A1):c.886G>A (p.Gly296Arg)
NM_000088.4(COL1A1):c.889G>A (p.Ala297Thr)
NM_000088.4(COL1A1):c.894T>C (p.Pro298=)
NM_000088.4(COL1A1):c.900G>T (p.Gln300His)
NM_000088.4(COL1A1):c.903+11C>G
NM_000088.4(COL1A1):c.903+12C>G
NM_000088.4(COL1A1):c.903+16del
NM_000088.4(COL1A1):c.903+1G>A rs1298621011
NM_000088.4(COL1A1):c.903+1G>T
NM_000088.4(COL1A1):c.903+1del
NM_000088.4(COL1A1):c.903+2T>A rs1598298449
NM_000088.4(COL1A1):c.903+9G>A
NM_000088.4(COL1A1):c.904-10T>A
NM_000088.4(COL1A1):c.904-17C>G
NM_000088.4(COL1A1):c.904-17C>T
NM_000088.4(COL1A1):c.904-1G>C rs1907593112
NM_000088.4(COL1A1):c.904-9G>A rs141726413
NM_000088.4(COL1A1):c.910del (p.Arg304fs) rs2144580791
NM_000088.4(COL1A1):c.913G>A (p.Gly305Ser) rs68062484
NM_000088.4(COL1A1):c.91C>T (p.Gln31Ter) rs794726873
NM_000088.4(COL1A1):c.925G>T (p.Glu309Ter)
NM_000088.4(COL1A1):c.930_931del (p.Gly311fs)
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.952C>T (p.Pro318Ser) rs1273349782
NM_000088.4(COL1A1):c.953C>G (p.Pro318Arg)
NM_000088.4(COL1A1):c.957+17C>T
NM_000088.4(COL1A1):c.958-1G>A rs72645352
NM_000088.4(COL1A1):c.958-1G>C rs72645352
NM_000088.4(COL1A1):c.958G>T (p.Gly320Cys) rs2144580035
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.972T>C (p.Asn324=) rs565335839
NM_000088.4(COL1A1):c.972_978dup (p.Ala327Ter) rs1114167411
NM_000088.4(COL1A1):c.974A>G (p.Asp325Gly) rs2144579945
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.992C>A (p.Ala331Asp) rs762653813
NM_000088.4(COL1A1):c.992C>T (p.Ala331Val) rs762653813
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000088.4(COL1A1):c.997C>T (p.Pro333Ser)
NM_000088.4(COL1A1):c.9C>G (p.Ser3Arg)
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.4(COL1A2):c.1197+5G>A rs68132885
NM_000089.4(COL1A2):c.1315G>T (p.Gly439Cys) rs1584320553
NM_000089.4(COL1A2):c.1424G>T (p.Gly475Val) rs1791951769
NM_000089.4(COL1A2):c.1612G>A (p.Gly538Ser)
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser) rs72658143
NM_000089.4(COL1A2):c.2072G>A (p.Gly691Asp) rs1792108270
NM_000089.4(COL1A2):c.2673+1G>T
NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp)
NM_000089.4(COL1A2):c.2835+1G>A rs72659310
NM_000089.4(COL1A2):c.3142G>A (p.Gly1048Ser)
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp) rs1114167416
NM_000089.4(COL1A2):c.3304G>T (p.Gly1102Cys) rs67768540
NM_000089.4(COL1A2):c.433-3T>G rs1554395470
NM_000089.4(COL1A2):c.487-183_594+240del
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser) rs72656370
NM_000089.4(COL1A2):c.604G>A (p.Gly202Ser) rs72656376
NM_000089.4(COL1A2):c.776G>A (p.Gly259Asp) rs1584318648
NM_000089.4(COL1A2):c.793G>C (p.Gly265Arg) rs1114167417
NM_000089.4(COL1A2):c.842_859dup (p.Gly286_Leu287insProArgGlyGluValGly)
NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser) rs1114167418
NM_000089.4(COL1A2):c.875G>T (p.Gly292Val) rs1131692167
Single allele

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