ClinVar Miner

List of variants in gene COL1A1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 717
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2830-33C>G rs2586489 0.99956
NM_000088.4(COL1A1):c.472-140dup rs5820805 0.99875
NM_000088.4(COL1A1):c.3223= (p.Ala1075=) rs1800215 0.97286
NM_000088.4(COL1A1):c.3423+128G>A rs2696245 0.96852
NM_000088.4(COL1A1):c.1002+52A>G rs2141279 0.86913
NM_000088.4(COL1A1):c.2028+39C>T rs2857396 0.85962
NM_000088.4(COL1A1):c.1002+77A>G rs2734281 0.85130
NM_000088.4(COL1A1):c.1056+129T>G rs2586494 0.83503
NM_000088.4(COL1A1):c.471+335T>C rs2586498 0.71615
NM_000088.4(COL1A1):c.1984-41G>A rs2586490 0.70223
NM_000088.4(COL1A1):c.472-297G>A rs2586497 0.69620
NM_000088.4(COL1A1):c.1461+27G>A rs2253369 0.69323
NM_000088.4(COL1A1):c.3261+31T>C rs2586488 0.66062
NM_000088.4(COL1A1):c.1669-31T>C rs1007086 0.64557
NM_000088.4(COL1A1):c.2451+103T>G rs2075558 0.34364
NM_000088.4(COL1A1):c.103+265G>A rs9898186 0.25975
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.3207+163G>T rs28574643 0.16370
NM_000088.4(COL1A1):c.*744C>T rs1061947 0.15959
NM_000088.4(COL1A1):c.2127+128G>C rs2075556 0.13933
NM_000088.4(COL1A1):c.2236-158C>A rs2075557 0.13131
NM_000088.4(COL1A1):c.588+72A>G rs8076979 0.12696
NM_000088.4(COL1A1):c.*1011T>C rs1061970 0.12435
NM_000088.4(COL1A1):c.643-81C>T rs9913817 0.12093
NM_000088.4(COL1A1):c.1876-44C>T rs1800695 0.11130
NM_000088.4(COL1A1):c.3208-32C>A rs41316705 0.07680
NM_000088.4(COL1A1):c.471+32C>T rs73987449 0.07550
NM_000088.4(COL1A1):c.642+25T>C rs73987448 0.05218
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.696+54G>A rs73987447 0.03766
NM_000088.4(COL1A1):c.472-169C>G rs78805959 0.03588
NM_000088.4(COL1A1):c.2236-56C>T rs78377092 0.02436
NM_000088.4(COL1A1):c.103+277dup rs35626114 0.02370
NM_000088.3(COL1A1):c.-161C>T rs113647555 0.02290
NM_000088.4(COL1A1):c.3208-127T>C rs41316699 0.02177
NM_000088.4(COL1A1):c.1462-33C>T rs41316651 0.02038
NM_000088.4(COL1A1):c.2614-22T>C rs73987444 0.01984
NM_000088.4(COL1A1):c.3424-43C>T rs41316717 0.01458
NM_000088.4(COL1A1):c.1875+41G>C rs41316671 0.01369
NM_000088.4(COL1A1):c.298+7C>A rs41317345 0.01333
NM_000088.4(COL1A1):c.1984-43G>C rs117746137 0.01323
NM_000088.4(COL1A1):c.957+43G>A rs76055698 0.01261
NM_000088.4(COL1A1):c.1768-60C>T rs116464938 0.01136
NM_000088.4(COL1A1):c.2175C>T (p.Gly725=) rs35017779 0.01114
NM_000088.4(COL1A1):c.3369+62C>T rs41316711 0.01056
NM_000088.4(COL1A1):c.1354-52G>C rs41317365 0.00912
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_000088.4(COL1A1):c.334-26T>A rs41317347 0.00813
NM_000088.4(COL1A1):c.*1165C>G rs149419718 0.00794
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00788
NM_000088.4(COL1A1):c.1822-57G>A rs41316669 0.00778
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_000088.4(COL1A1):c.544-24C>T rs113638816 0.00677
NM_000088.4(COL1A1):c.4006-110G>A rs113648997 0.00646
NM_000088.4(COL1A1):c.2343+34C>A rs149027707 0.00591
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.*1233G>A rs73987442 0.00516
NM_000088.4(COL1A1):c.471+44T>C rs189542584 0.00498
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.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=) rs41316725 0.00431
NM_000088.4(COL1A1):c.2452-23del rs146899953 0.00427
NM_000088.4(COL1A1):c.2127+60T>C rs112502723 0.00414
NM_000088.4(COL1A1):c.4005+44G>A rs145008436 0.00381
NM_000088.4(COL1A1):c.299-76T>A rs375696477 0.00360
NC_000017.11:g.50201979G>T rs530354504 0.00348
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000088.4(COL1A1):c.2668-47G>T rs41316689 0.00325
NM_000088.4(COL1A1):c.1767+177G>T rs187079088 0.00285
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_000088.4(COL1A1):c.*1088G>A rs191326459 0.00264
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.*378C>G rs148131473 0.00150
NM_000088.4(COL1A1):c.3761A>C (p.Asn1254Thr) rs766709517 0.00148
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.2830-43C>T rs192268642 0.00107
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.3309C>T (p.Gly1103=) rs142312753 0.00054
NM_000088.4(COL1A1):c.*981G>C rs574167621 0.00045
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.3369+28C>T rs2277634 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.2668-12A>G rs200355573 0.00037
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
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.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.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 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.*202A>G rs564917505 0.00016
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.*4C>T rs770414874 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.1583G>A (p.Arg528His) rs144751329 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.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.2613+13C>T rs368380161 0.00011
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
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.2069C>T (p.Pro690Leu) rs760258050 0.00009
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799 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.2424C>T (p.Pro808=) rs369699409 0.00008
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000088.4(COL1A1):c.1674C>T (p.Pro558=) rs578167693 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.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.528C>T (p.Ser176=) rs748856187 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.2028+18G>A rs745829877 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.1270G>A (p.Gly424Ser) rs750427423 0.00004
NM_000088.4(COL1A1):c.1695C>T (p.Pro565=) rs761635519 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.2355T>A (p.Gly785=) rs137937544 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.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.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.428C>G (p.Pro143Arg) rs941273260 0.00004
NM_000088.4(COL1A1):c.4307G>A (p.Arg1436His) rs149295671 0.00004
NM_000088.4(COL1A1):c.*16A>G rs202170631 0.00003
NM_000088.4(COL1A1):c.1018G>A (p.Ala340Thr) rs773343407 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.1718C>G (p.Ala573Gly) rs1457362728 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.3665A>G (p.Asn1222Ser) rs751784955 0.00003
NM_000088.4(COL1A1):c.3727G>A (p.Glu1243Lys) rs373777457 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.1515+6C>T rs369422507 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.1861C>A (p.Pro621Thr) rs764186905 0.00002
NM_000088.4(COL1A1):c.1881C>T (p.Pro627=) rs550265501 0.00002
NM_000088.4(COL1A1):c.2451T>C (p.Pro817=) rs374465457 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.3106C>T (p.Arg1036Cys) rs72653177 0.00002
NM_000088.4(COL1A1):c.323C>T (p.Thr108Ile) rs765837515 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.3595A>G (p.Ser1199Gly) rs776355079 0.00002
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His) rs543809032 0.00002
NM_000088.4(COL1A1):c.427C>T (p.Pro143Ser) rs570526849 0.00002
NM_000088.4(COL1A1):c.4387T>C (p.Phe1463Leu) rs577626107 0.00002
NM_000088.4(COL1A1):c.696+6T>C rs747108049 0.00002
NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser) rs66664580 0.00001
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe) rs72645362 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.1153G>A (p.Ala385Thr) rs548048698 0.00001
NM_000088.4(COL1A1):c.1207C>G (p.Pro403Ala) rs762809403 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.1429C>G (p.Pro477Ala) rs1268011878 0.00001
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) rs1051473344 0.00001
NM_000088.4(COL1A1):c.1522G>A (p.Ala508Thr) rs752150906 0.00001
NM_000088.4(COL1A1):c.1621A>G (p.Thr541Ala) rs766204229 0.00001
NM_000088.4(COL1A1):c.1673C>A (p.Pro558His) rs1434840230 0.00001
NM_000088.4(COL1A1):c.1822-10C>T rs767754125 0.00001
NM_000088.4(COL1A1):c.1875+3G>T rs138164489 0.00001
NM_000088.4(COL1A1):c.1925T>A (p.Phe642Tyr) rs773957707 0.00001
NM_000088.4(COL1A1):c.1929+11A>G rs1323161515 0.00001
NM_000088.4(COL1A1):c.1984-13C>A rs772638625 0.00001
NM_000088.4(COL1A1):c.2032G>A (p.Glu678Lys) rs1213427451 0.00001
NM_000088.4(COL1A1):c.2053C>T (p.Arg685Cys) rs764826942 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.2181G>A (p.Gln727=) rs777571745 0.00001
NM_000088.4(COL1A1):c.2204C>T (p.Ala735Val) rs990375606 0.00001
NM_000088.4(COL1A1):c.2235+4A>C rs1382593990 0.00001
NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser) rs72651658 0.00001
NM_000088.4(COL1A1):c.2404C>T (p.Arg802Cys) rs1459870410 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.2593C>T (p.Arg865Cys) rs1555572582 0.00001
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520 0.00001
NM_000088.4(COL1A1):c.2614-8C>T rs886042649 0.00001
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=) rs779337831 0.00001
NM_000088.4(COL1A1):c.277C>A (p.Pro93Thr) rs886042456 0.00001
NM_000088.4(COL1A1):c.2819A>T (p.Asp940Val) rs1339193404 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.298+5G>T rs757231152 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.3060C>T (p.Ala1020=) rs751239116 0.00001
NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr) rs374095521 0.00001
NM_000088.4(COL1A1):c.3100-5G>A rs751822769 0.00001
NM_000088.4(COL1A1):c.3197G>A (p.Arg1066His) rs752075205 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.3504C>T (p.Arg1168=) rs370529603 0.00001
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala) rs766461654 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.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.4176C>T (p.Gly1392=) rs745816283 0.00001
NM_000088.4(COL1A1):c.4195C>T (p.Arg1399Cys) rs762848021 0.00001
NM_000088.4(COL1A1):c.4213C>T (p.Arg1405Cys) rs1279465588 0.00001
NM_000088.4(COL1A1):c.4320C>T (p.Ile1440=) rs770326881 0.00001
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133 0.00001
NM_000088.4(COL1A1):c.4351G>T (p.Asp1451Tyr) rs1339511647 0.00001
NM_000088.4(COL1A1):c.471+6T>C rs1276599083 0.00001
NM_000088.4(COL1A1):c.61C>T (p.His21Tyr) rs777150332 0.00001
NM_000088.4(COL1A1):c.937C>T (p.Pro313Ser) rs1054020486 0.00001
NM_000088.4(COL1A1):c.964C>T (p.Arg322Cys) rs777644312 0.00001
GRCh37/hg19 17q21.33(chr17:48263089-48278931)x1
NC_000017.11:g.50188796del
NM_000088.1(COL1A1):c.*1724A>T
NM_000088.3(COL1A1):c.1301delG (p.Gly434Valfs) rs1555573968
NM_000088.3(COL1A1):c.3131_3133delinsT (p.Pro1044fs) rs1567754639
NM_000088.3(COL1A1):c.3188_3190delGTGins13 (p.?)
NM_000088.3(COL1A1):c.3371del
NM_000088.3(COL1A1):c.563_564delinsA (p.Gly188fs) rs1555574802
NM_000088.4(COL1A1):c.*1025_*1026del rs58879635
NM_000088.4(COL1A1):c.*1026_*1028del rs751268781
NM_000088.4(COL1A1):c.*1026del rs58879635
NM_000088.4(COL1A1):c.*1026dup rs58879635
NM_000088.4(COL1A1):c.*1027G>T rs200882287
NM_000088.4(COL1A1):c.*1050del rs535610699
NM_000088.4(COL1A1):c.*142del rs572791972
NM_000088.4(COL1A1):c.*479C>T rs75168103
NM_000088.4(COL1A1):c.*681_*682insAGCA rs3840870
NM_000088.4(COL1A1):c.*88T>C rs1061237
NM_000088.4(COL1A1):c.-98G>A rs574683904
NM_000088.4(COL1A1):c.1002+2T>A rs786205507
NM_000088.4(COL1A1):c.1002+3G>T rs2144579715
NM_000088.4(COL1A1):c.1002+6T>G rs2144579702
NM_000088.4(COL1A1):c.1002+8T>C rs1598297956
NM_000088.4(COL1A1):c.1003-1G>A rs72645361
NM_000088.4(COL1A1):c.1013G>T (p.Gly338Val) rs1555574249
NM_000088.4(COL1A1):c.1019C>T (p.Ala340Val) rs1412901667
NM_000088.4(COL1A1):c.103+123_103+125del rs539689232
NM_000088.4(COL1A1):c.103+7C>T rs2144600046
NM_000088.4(COL1A1):c.1037C>T (p.Pro346Leu) rs372658559
NM_000088.4(COL1A1):c.1037del (p.Pro346fs) rs1598297682
NM_000088.4(COL1A1):c.104-1G>T rs1555575456
NM_000088.4(COL1A1):c.104-2A>T rs2144594870
NM_000088.4(COL1A1):c.1044del (p.Val349fs) rs1598297666
NM_000088.4(COL1A1):c.1056+12dup rs766175536
NM_000088.4(COL1A1):c.1066G>A (p.Gly356Ser)
NM_000088.4(COL1A1):c.1072del (p.Gln358fs)
NM_000088.4(COL1A1):c.1076G>A (p.Gly359Glu) rs1085307454
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.1094G>T (p.Gly365Val) rs66494876
NM_000088.4(COL1A1):c.1102G>C (p.Gly368Arg) rs72645367
NM_000088.4(COL1A1):c.1103G>T (p.Gly368Val) rs1555574151
NM_000088.4(COL1A1):c.1108C>T (p.Arg370Cys)
NM_000088.4(COL1A1):c.1121G>C (p.Gly374Ala) rs1555574143
NM_000088.4(COL1A1):c.1123C>T (p.Pro375Ser) rs567855944
NM_000088.4(COL1A1):c.1126C>T (p.Pro376Ser)
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.1155+1G>C rs72648315
NM_000088.4(COL1A1):c.1155+3_1155+6del rs72648316
NM_000088.4(COL1A1):c.1162_1171delinsAGGT (p.Pro388_Asp391delinsArgTyr) rs2144576880
NM_000088.4(COL1A1):c.1174G>A (p.Gly392Arg)
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter) rs2144576822
NM_000088.4(COL1A1):c.117C>G (p.Thr39=)
NM_000088.4(COL1A1):c.1200+6T>C rs2144576638
NM_000088.4(COL1A1):c.1201-1G>A rs72648321
NM_000088.4(COL1A1):c.1219G>A (p.Gly407Ser)
NM_000088.4(COL1A1):c.1238G>A (p.Gly413Asp) rs72648325
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.4(COL1A1):c.1247G>A (p.Gly416Asp) rs1135401953
NM_000088.4(COL1A1):c.1247G>T (p.Gly416Val) rs1135401953
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.124C>A (p.Gln42Lys)
NM_000088.4(COL1A1):c.1252del (p.Ser418fs) rs2144575699
NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser) rs72648330
NM_000088.4(COL1A1):c.1299+1G>A rs66490707
NM_000088.4(COL1A1):c.1300-12dup rs776544779
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.1300G>A (p.Gly434Ser) rs1555573969
NM_000088.4(COL1A1):c.1318G>A (p.Gly440Ser) rs794727319
NM_000088.4(COL1A1):c.133_134delinsG (p.Leu45fs) rs2144594672
NM_000088.4(COL1A1):c.1351C>G (p.Pro451Ala) rs1907454557
NM_000088.4(COL1A1):c.1353+10C>T rs1598296540
NM_000088.4(COL1A1):c.1369C>T (p.Gln457Ter) rs1228746935
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.4(COL1A1):c.1382G>C (p.Gly461Ala) rs1598296202
NM_000088.4(COL1A1):c.1405C>T (p.Arg469Ter) rs762428889
NM_000088.4(COL1A1):c.1414C>T (p.Arg472Ter) rs72648343
NM_000088.4(COL1A1):c.1433C>G (p.Thr478Ser)
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>A (p.Gly482Arg) rs72648344
NM_000088.4(COL1A1):c.1450C>T (p.Pro484Ser)
NM_000088.4(COL1A1):c.1452del (p.Gly485fs) rs72648346
NM_000088.4(COL1A1):c.1459C>A (p.Arg487Ser)
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.148C>T (p.Arg50Ter) rs1555575425
NM_000088.4(COL1A1):c.1515+19C>T
NM_000088.4(COL1A1):c.1515+30C>G rs41316653
NM_000088.4(COL1A1):c.1516-1G>C rs72648352
NM_000088.4(COL1A1):c.1520C>T (p.Pro507Leu)
NM_000088.4(COL1A1):c.1533T>G (p.Arg511=) rs899423835
NM_000088.4(COL1A1):c.1538C>T (p.Ser513Phe)
NM_000088.4(COL1A1):c.1547del (p.Pro516fs) rs1555573734
NM_000088.4(COL1A1):c.1561G>T (p.Gly521Ter) rs2144571189
NM_000088.4(COL1A1):c.1567C>G (p.Pro523Ala) rs764315746
NM_000088.4(COL1A1):c.1588G>A (p.Gly530Ser) rs67682641
NM_000088.4(COL1A1):c.1601del (p.Leu534fs) rs1598295506
NM_000088.4(COL1A1):c.1614+1G>C rs72648357
NM_000088.4(COL1A1):c.1615G>A (p.Gly539Ser) rs1555573699
NM_000088.4(COL1A1):c.1618del (p.Gly539_Leu540insTer) rs1555573696
NM_000088.4(COL1A1):c.162del (p.Lys54fs) rs1131691607
NM_000088.4(COL1A1):c.1635_1643del (p.543SPG[1]) rs1064796341
NM_000088.4(COL1A1):c.1652del (p.Gly551fs) rs1555573684
NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg) rs72648359
NM_000088.4(COL1A1):c.1667dup (p.Gly557fs) rs1351742344
NM_000088.4(COL1A1):c.1670G>A (p.Gly557Asp)
NM_000088.4(COL1A1):c.1674C>A (p.Pro558=)
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.1696G>A (p.Gly566Arg) rs67416837
NM_000088.4(COL1A1):c.1717G>C (p.Ala573Pro) rs753501091
NM_000088.4(COL1A1):c.1724G>A (p.Gly575Asp) rs1567759163
NM_000088.4(COL1A1):c.1748C>G (p.Pro583Arg) rs1401682206
NM_000088.4(COL1A1):c.1753C>T (p.Pro585Ser) rs1170607509
NM_000088.4(COL1A1):c.1760G>T (p.Gly587Val) rs72648368
NM_000088.4(COL1A1):c.1767+1G>A rs2144569036
NM_000088.4(COL1A1):c.1767+2T>G rs794727394
NM_000088.4(COL1A1):c.1767+3_1767+6del rs886042301
NM_000088.4(COL1A1):c.1767+4A>G rs2144569023
NM_000088.4(COL1A1):c.1768-1G>A rs72648370
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser) rs66527965
NM_000088.4(COL1A1):c.178A>T (p.Ile60Phe)
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter) rs72651614
NM_000088.4(COL1A1):c.1804G>A (p.Gly602Arg) rs72651615
NM_000088.4(COL1A1):c.1810C>G (p.Pro604Ala) rs868525869
NM_000088.4(COL1A1):c.1813G>A (p.Gly605Ser) rs2144565537
NM_000088.4(COL1A1):c.1815C>T (p.Gly605=) rs370384784
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000088.4(COL1A1):c.1838A>G (p.Asp613Gly)
NM_000088.4(COL1A1):c.1840G>T (p.Gly614Ter) rs1907214691
NM_000088.4(COL1A1):c.1875+1G>C rs72651622
NM_000088.4(COL1A1):c.1875+5G>C rs886041866
NM_000088.4(COL1A1):c.1884del (p.Gly629fs) rs1598293710
NM_000088.4(COL1A1):c.1906C>T (p.Pro636Ser)
NM_000088.4(COL1A1):c.1921G>A (p.Gly641Arg) rs2144563717
NM_000088.4(COL1A1):c.1921G>T (p.Gly641Ter) rs2144563717
NM_000088.4(COL1A1):c.1930-29_1930-18del rs1598293534
NM_000088.4(COL1A1):c.1930G>A (p.Gly644Ser) rs1057524547
NM_000088.4(COL1A1):c.1945_1953del (p.Ala649_Pro651del) rs2144563120
NM_000088.4(COL1A1):c.197_199delinsTGTTGCC (p.Gly66fs) rs886041871
NM_000088.4(COL1A1):c.1984-6C>A rs373873548
NM_000088.4(COL1A1):c.1A>G (p.Met1Val) rs1555575889
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr) rs563598815
NM_000088.4(COL1A1):c.2010del (p.Gly671fs) rs72651634
NM_000088.4(COL1A1):c.2021G>A (p.Gly674Glu) rs1567757713
NM_000088.4(COL1A1):c.2030G>A (p.Gly677Asp) rs2144560786
NM_000088.4(COL1A1):c.2048G>A (p.Gly683Asp) rs1598292524
NM_000088.4(COL1A1):c.2049_2050del (p.Glu684fs) rs1555573111
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter) rs193922144
NM_000088.4(COL1A1):c.2073del (p.Gly692fs) rs72651640
NM_000088.4(COL1A1):c.209G>A (p.Cys70Tyr) rs1221233834
NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser) rs68114505
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.2119G>A (p.Gly707Ser) rs886041817
NM_000088.4(COL1A1):c.2120G>A (p.Gly707Asp) rs1420427521
NM_000088.4(COL1A1):c.2138G>A (p.Gly713Asp) rs1555573040
NM_000088.4(COL1A1):c.2143C>T (p.Pro715Ser) rs886043618
NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser) rs72651645
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter) rs193922145
NM_000088.4(COL1A1):c.2180A>C (p.Gln727Pro) rs749032265
NM_000088.4(COL1A1):c.2235+118T>C rs2696246
NM_000088.4(COL1A1):c.2235_2235+1del rs2144558158
NM_000088.4(COL1A1):c.2257G>A (p.Ala753Thr) rs764478745
NM_000088.4(COL1A1):c.2263G>C (p.Gly755Arg) rs72651654
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.228C>A (p.Asp76Glu)
NM_000088.4(COL1A1):c.2317G>T (p.Gly773Cys)
NM_000088.4(COL1A1):c.2344-7C>T rs1031284183
NM_000088.4(COL1A1):c.2354G>A (p.Gly785Asp) rs786205506
NM_000088.4(COL1A1):c.235_245del (p.Lys79fs) rs1907925754
NM_000088.4(COL1A1):c.2361C>A (p.Ser787Arg)
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.4(COL1A1):c.2393C>T (p.Ala798Val)
NM_000088.4(COL1A1):c.2398-1G>A rs193922147
NM_000088.4(COL1A1):c.2408G>T (p.Gly803Val) rs1555572756
NM_000088.4(COL1A1):c.2425G>A (p.Gly809Ser) rs72651663
NM_000088.4(COL1A1):c.2428C>T (p.Pro810Ser) rs1555572744
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000088.4(COL1A1):c.2445_2446delinsA (p.Pro817fs) rs2144554392
NM_000088.4(COL1A1):c.2452-1G>A rs72651667
NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser) rs67693970
NM_000088.4(COL1A1):c.2471del (p.Gly824fs) rs2144553293
NM_000088.4(COL1A1):c.2484_2510dup (p.Glu828_Gly836dup) rs1555572656
NM_000088.4(COL1A1):c.2489G>C (p.Gly830Ala) rs1906940342
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.4(COL1A1):c.2522C>A (p.Pro841His)
NM_000088.4(COL1A1):c.2533G>A (p.Gly845Arg) rs72653136
NM_000088.4(COL1A1):c.2535A>C (p.Gly845=) rs886043649
NM_000088.4(COL1A1):c.253_286del (p.Glu85fs) rs1907920572
NM_000088.4(COL1A1):c.2550del (p.Gly851fs) rs1114167380
NM_000088.4(COL1A1):c.2559+1G>A
NM_000088.4(COL1A1):c.256del (p.Val86fs) rs1567764772
NM_000088.4(COL1A1):c.2588G>A (p.Gly863Asp) rs886043749
NM_000088.4(COL1A1):c.2588G>C (p.Gly863Ala) rs886043749
NM_000088.4(COL1A1):c.2594_2595delinsTT (p.Arg865Leu) rs2144552163
NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser) rs67445413
NM_000088.4(COL1A1):c.2599A>C (p.Ser867Arg) rs1906915002
NM_000088.4(COL1A1):c.2605G>T (p.Gly869Cys) rs72653143
NM_000088.4(COL1A1):c.260C>T (p.Pro87Leu) rs926503489
NM_000088.4(COL1A1):c.2613+29C>T rs41316687
NM_000088.4(COL1A1):c.2615G>T (p.Gly872Val) rs1555572537
NM_000088.4(COL1A1):c.262G>T (p.Glu88Ter) rs1555575370
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter) rs72653147
NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser) rs1567755602
NM_000088.4(COL1A1):c.2667+1G>A rs72653150
NM_000088.4(COL1A1):c.2668-11T>G rs786205505
NM_000088.4(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.4(COL1A1):c.2696G>A (p.Gly899Asp) rs1906875264
NM_000088.4(COL1A1):c.2705G>A (p.Gly902Asp)
NM_000088.4(COL1A1):c.2715del (p.Gly906fs) rs2144550479
NM_000088.4(COL1A1):c.2740_2741insCCCACCCCATGCACTGGCTCCAGTGCGGCTCTCATCTGGGGAGCAGGAAGACGCAG (p.Gly914fs) rs2144550352
NM_000088.4(COL1A1):c.2756del (p.Pro919fs) rs2144550253
NM_000088.4(COL1A1):c.2784del (p.Gly929fs) rs72653155
NM_000088.4(COL1A1):c.2786dup (p.Ala931fs) rs1598289247
NM_000088.4(COL1A1):c.2810del (p.Pro937fs) rs2144549885
NM_000088.4(COL1A1):c.2824C>T (p.Pro942Ser)
NM_000088.4(COL1A1):c.2829+1G>C rs72653156
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.4(COL1A1):c.2848G>A (p.Gly950Arg)
NM_000088.4(COL1A1):c.2872C>T (p.Arg958Cys)
NM_000088.4(COL1A1):c.2892T>G (p.Pro964=) rs753585193
NM_000088.4(COL1A1):c.2906A>G (p.Glu969Gly)
NM_000088.4(COL1A1):c.2930G>T (p.Gly977Val) rs886042308
NM_000088.4(COL1A1):c.2939G>T (p.Gly980Val) rs72653166
NM_000088.4(COL1A1):c.2969del (p.Ala990fs) rs1906821341
NM_000088.4(COL1A1):c.298+20CTGGGGC[2] rs150854949
NM_000088.4(COL1A1):c.298+20CTGGGGC[3] rs150854949
NM_000088.4(COL1A1):c.299-1G>A rs1598301619
NM_000088.4(COL1A1):c.299-4C>T rs780745594
NM_000088.4(COL1A1):c.2991del (p.Gly998fs) rs886042603
NM_000088.4(COL1A1):c.3008del (p.Pro1003fs) rs72653168
NM_000088.4(COL1A1):c.3023C>T (p.Pro1008Leu) rs1484351533
NM_000088.4(COL1A1):c.3045+1G>A rs1114167382
NM_000088.4(COL1A1):c.3045G>A (p.Glu1015=)
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3046-20CT[7] rs138425306
NM_000088.4(COL1A1):c.3046G>A (p.Gly1016Arg) rs1555572331
NM_000088.4(COL1A1):c.3056G>C (p.Gly1019Ala) rs1135348
NM_000088.4(COL1A1):c.3061G>T (p.Glu1021Ter) rs139593707
NM_000088.4(COL1A1):c.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.3082G>A (p.Gly1028Ser)
NM_000088.4(COL1A1):c.3099+1G>A rs1555572316
NM_000088.4(COL1A1):c.3100-2A>G
NM_000088.4(COL1A1):c.3102_3111dup (p.Glu1038Ter) rs2144546004
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.4(COL1A1):c.3123del (p.Ala1042fs) rs886039693
NM_000088.4(COL1A1):c.3127G>A (p.Gly1043Arg) rs886044125
NM_000088.4(COL1A1):c.3135del (p.Gly1046fs) rs1598288002
NM_000088.4(COL1A1):c.313C>T (p.Gln105Ter)
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2]) rs74315111
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly) rs74315111
NM_000088.4(COL1A1):c.3157_3170del (p.Ala1053fs) rs1555572249
NM_000088.4(COL1A1):c.3162del (p.Gly1055fs) rs72654794
NM_000088.4(COL1A1):c.3164G>A (p.Gly1055Asp) rs1906761196
NM_000088.4(COL1A1):c.3207+1G>A rs1555572239
NM_000088.4(COL1A1):c.3207+1_3207+2del rs1064796200
NM_000088.4(COL1A1):c.3207+8G>T rs866785621
NM_000088.4(COL1A1):c.3208-19C>T
NM_000088.4(COL1A1):c.3208G>A (p.Gly1070Ser) rs1057518221
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser) rs72654802
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+1G>A rs2144543339
NM_000088.4(COL1A1):c.3268C>T (p.Gln1090Ter) rs2144542850
NM_000088.4(COL1A1):c.3281G>C (p.Gly1094Ala) rs2144542715
NM_000088.4(COL1A1):c.3300C>T (p.Gly1100=) rs1349721736
NM_000088.4(COL1A1):c.3301G>A (p.Glu1101Lys)
NM_000088.4(COL1A1):c.3301G>T (p.Glu1101Ter) rs867628651
NM_000088.4(COL1A1):c.3313A>G (p.Arg1105Gly) rs1555572101
NM_000088.4(COL1A1):c.334-9A>G rs1567764387
NM_000088.4(COL1A1):c.3358C>T (p.Pro1120Ser) rs1906697025
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs) rs1260429820
NM_000088.4(COL1A1):c.3369+4A>G rs2144542173
NM_000088.4(COL1A1):c.3369+9G>T rs1009435359
NM_000088.4(COL1A1):c.3370-4T>C rs2144540862
NM_000088.4(COL1A1):c.3379G>C (p.Gly1127Arg) rs1555572024
NM_000088.4(COL1A1):c.3379G>T (p.Gly1127Cys) rs1555572024
NM_000088.4(COL1A1):c.3406G>A (p.Gly1136Ser) rs1555572015
NM_000088.4(COL1A1):c.3412G>T (p.Ala1138Ser) rs1064796592
NM_000088.4(COL1A1):c.3415G>A (p.Gly1139Ser) rs886041904
NM_000088.4(COL1A1):c.3416G>A (p.Gly1139Asp) rs1064796499
NM_000088.4(COL1A1):c.3452G>T (p.Gly1151Val) rs72656321
NM_000088.4(COL1A1):c.3469G>C (p.Gly1157Arg) rs1278821174
NM_000088.4(COL1A1):c.346G>C (p.Asp116His)
NM_000088.4(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000088.4(COL1A1):c.347A>G (p.Asp116Gly) rs1907874708
NM_000088.4(COL1A1):c.3494del (p.Pro1165fs) rs1598286050
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs) rs1555571916
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.4(COL1A1):c.3533G>A (p.Gly1178Asp) rs72656329
NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser) rs72656330
NM_000088.4(COL1A1):c.3550G>A (p.Gly1184Arg) rs1906591346
NM_000088.4(COL1A1):c.3567del (p.Gly1190fs) rs886042286
NM_000088.4(COL1A1):c.3585T>C (p.Gly1195=) rs1906585690
NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter) rs762979302
NM_000088.4(COL1A1):c.358del (p.Arg120fs) rs2144591969
NM_000088.4(COL1A1):c.3622A>T (p.Lys1208Ter) rs786205504
NM_000088.4(COL1A1):c.3647A>G (p.Tyr1216Cys) rs1555571849
NM_000088.4(COL1A1):c.3652G>C (p.Ala1218Pro) rs72656337
NM_000088.4(COL1A1):c.3656A>G (p.Asp1219Gly) rs2144537008
NM_000088.4(COL1A1):c.3671_3683del (p.Val1224fs) rs2144536796
NM_000088.4(COL1A1):c.3674G>A (p.Arg1225His)
NM_000088.4(COL1A1):c.3677A>G (p.Asp1226Gly)
NM_000088.4(COL1A1):c.3713T>A (p.Leu1238Gln) rs2144536626
NM_000088.4(COL1A1):c.3732C>T (p.Asn1244=) rs994196345
NM_000088.4(COL1A1):c.3798C>T (p.His1266=) rs1567752621
NM_000088.4(COL1A1):c.3806G>A (p.Trp1269Ter) rs72656341
NM_000088.4(COL1A1):c.3814+1G>T
NM_000088.4(COL1A1):c.3815-1G>C
NM_000088.4(COL1A1):c.3815-3C>T
NM_000088.4(COL1A1):c.3815-9C>T rs1314152402
NM_000088.4(COL1A1):c.3815G>T (p.Gly1272Val) rs1114167402
NM_000088.4(COL1A1):c.381C>T (p.Gly127=)
NM_000088.4(COL1A1):c.3827T>A (p.Ile1276Asn) rs1207643613
NM_000088.4(COL1A1):c.3827T>G (p.Ile1276Ser)
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_3883delinsGT (p.Cys1291fs) rs2144534853
NM_000088.4(COL1A1):c.3898G>T (p.Val1300Leu)
NM_000088.4(COL1A1):c.3903C>T (p.Tyr1301=) rs1239012334
NM_000088.4(COL1A1):c.3923C>A (p.Ala1308Asp) rs1370247898
NM_000088.4(COL1A1):c.3925C>T (p.Gln1309Ter) rs2144534607
NM_000088.4(COL1A1):c.3936G>A (p.Trp1312Ter) rs72656343
NM_000088.4(COL1A1):c.3939C>A (p.Tyr1313Ter) rs886042609
NM_000088.4(COL1A1):c.3963G>C (p.Lys1321Asn) rs764729498
NM_000088.4(COL1A1):c.3G>A (p.Met1Ile) rs1567766329
NM_000088.4(COL1A1):c.4005+1G>A
NM_000088.4(COL1A1):c.4005+4C>T rs528349466
NM_000088.4(COL1A1):c.4019G>A (p.Gly1340Asp)
NM_000088.4(COL1A1):c.4029C>T (p.Ser1343=)
NM_000088.4(COL1A1):c.4035del (p.Ala1346fs) rs1064796415
NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn)
NM_000088.4(COL1A1):c.4051C>T (p.Gln1351Ter)
NM_000088.4(COL1A1):c.4054C>G (p.Leu1352Val) rs1906478020
NM_000088.4(COL1A1):c.4056G>C (p.Leu1352=)
NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn) rs982770651
NM_000088.4(COL1A1):c.4067G>T (p.Arg1356Leu) rs149820303
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.4100C>A (p.Thr1367Asn) rs2144532190
NM_000088.4(COL1A1):c.4110C>A (p.Cys1370Ter) rs886041552
NM_000088.4(COL1A1):c.4118G>C (p.Ser1373Thr)
NM_000088.4(COL1A1):c.4141A>G (p.Thr1381Ala) rs756188663
NM_000088.4(COL1A1):c.4189G>A (p.Glu1397Lys)
NM_000088.4(COL1A1):c.4192A>G (p.Ile1398Val)
NM_000088.4(COL1A1):c.4199C>A (p.Ala1400Asp) rs1598284064
NM_000088.4(COL1A1):c.4201G>A (p.Glu1401Lys)
NM_000088.4(COL1A1):c.4213C>A (p.Arg1405Ser)
NM_000088.4(COL1A1):c.4245C>A (p.Cys1415Ter) rs1555571589
NM_000088.4(COL1A1):c.424G>A (p.Gly142Arg) rs1567764128
NM_000088.4(COL1A1):c.4262C>T (p.Ala1421Val)
NM_000088.4(COL1A1):c.4274C>T (p.Thr1425Ile) rs2144530252
NM_000088.4(COL1A1):c.4285T>C (p.Tyr1429His)
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.4314C>T (p.Pro1438=) rs771512754
NM_000088.4(COL1A1):c.4338C>G (p.Asp1446Glu)
NM_000088.4(COL1A1):c.4339G>T (p.Val1447Phe)
NM_000088.4(COL1A1):c.433G>A (p.Gly145Arg) rs1907850821
NM_000088.4(COL1A1):c.4361T>C (p.Phe1454Ser) rs2144529534
NM_000088.4(COL1A1):c.436C>A (p.Pro146Thr) rs756846639
NM_000088.4(COL1A1):c.4371C>T (p.Asp1457=) rs112873723
NM_000088.4(COL1A1):c.4372G>C (p.Val1458Leu) rs138557594
NM_000088.4(COL1A1):c.441del (p.Gly148fs) rs1473458290
NM_000088.4(COL1A1):c.458dup (p.Gly154fs) rs1114167407
NM_000088.4(COL1A1):c.471+205T>C rs78271486
NM_000088.4(COL1A1):c.471+5G>C rs1555575015
NM_000088.4(COL1A1):c.472-13_472-12del rs1210027118
NM_000088.4(COL1A1):c.472-1G>C rs72667020
NM_000088.4(COL1A1):c.472-1G>T rs72667020
NM_000088.4(COL1A1):c.472-4C>G rs753888456
NM_000088.4(COL1A1):c.501T>A (p.Tyr167Ter) rs946705319
NM_000088.4(COL1A1):c.516C>T (p.Thr172=) rs377195143
NM_000088.4(COL1A1):c.529G>A (p.Val177Met)
NM_000088.4(COL1A1):c.543+1G>A rs2144588841
NM_000088.4(COL1A1):c.549del (p.Ser184fs) rs1907769451
NM_000088.4(COL1A1):c.55dup (p.Leu19fs) rs2144600397
NM_000088.4(COL1A1):c.574C>G (p.Pro192Ala)
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.581G>A (p.Gly194Asp) rs2144587699
NM_000088.4(COL1A1):c.588+4A>G rs72667026
NM_000088.4(COL1A1):c.589-7TC[3]
NM_000088.4(COL1A1):c.589G>T (p.Gly197Cys) rs8179178
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.599G>T (p.Gly200Val) rs72667029
NM_000088.4(COL1A1):c.607G>C (p.Gly203Arg) rs72667030
NM_000088.4(COL1A1):c.608G>T (p.Gly203Val) rs72667031
NM_000088.4(COL1A1):c.614dup (p.Gly206fs) rs72667033
NM_000088.4(COL1A1):c.642+4A>G
NM_000088.4(COL1A1):c.643-2A>G rs886042602
NM_000088.4(COL1A1):c.643-36del rs58135270
NM_000088.4(COL1A1):c.646C>A (p.Pro216Thr) rs766891244
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_000088.4(COL1A1):c.662G>A (p.Gly221Asp)
NM_000088.4(COL1A1):c.670G>A (p.Gly224Ser)
NM_000088.4(COL1A1):c.671G>T (p.Gly224Val) rs1555574641
NM_000088.4(COL1A1):c.677del (p.Pro226fs) rs1598299754
NM_000088.4(COL1A1):c.696+1G>C
NM_000088.4(COL1A1):c.6C>T (p.Phe2=)
NM_000088.4(COL1A1):c.91C>T (p.Gln31Ter) rs794726873
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.4(COL1A1):c.959G>A (p.Gly320Asp) rs72645353
NM_000088.4(COL1A1):c.967G>T (p.Gly323Ter)
NM_000088.4(COL1A1):c.96C>G (p.Asp32Glu)
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg) rs72645355
NM_000088.4(COL1A1):c.978T>C (p.Gly326=) rs1227051602
NM_000088.4(COL1A1):c.983_984dup (p.Gly329fs)
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000088.4(COL1A1):c.989C>A (p.Ala330Asp)
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.998C>T (p.Pro333Leu) rs1907567727

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