NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
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.3571C>G (p.Pro1191Ala)
|
rs142570406
|
0.00059
|
NM_000088.4(COL1A1):c.1461+7G>A
|
rs374268357
|
0.00054
|
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=)
|
rs148737409
|
0.00054
|
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=)
|
rs147743501
|
0.00044
|
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.1002+10G>T
|
rs368316440
|
0.00031
|
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala)
|
rs1800214
|
0.00031
|
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.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.3100-6C>T
|
rs377123276
|
0.00019
|
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.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.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.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.2069C>T (p.Pro690Leu)
|
rs760258050
|
0.00009
|
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)
|
rs72654799
|
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.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.543+10C>T
|
rs376260945
|
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.2166C>T (p.Gly722=)
|
rs200188855
|
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.3766G>A (p.Ala1256Thr)
|
rs148216434
|
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.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.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.1785T>A (p.Ala595=)
|
rs780217716
|
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.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.3588C>T (p.Phe1196=)
|
rs748086214
|
0.00004
|
NM_000088.4(COL1A1):c.3630C>T (p.His1210=)
|
rs745320719
|
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.3979G>A (p.Gly1327Ser)
|
rs147104425
|
0.00004
|
NM_000088.4(COL1A1):c.4038C>T (p.Ala1346=)
|
rs768810493
|
0.00004
|
NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe)
|
rs768808806
|
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.1018G>A (p.Ala340Thr)
|
rs773343407
|
0.00003
|
NM_000088.4(COL1A1):c.1056+7C>A
|
rs1055536504
|
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.2452-19G>A
|
rs762402176
|
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.3022C>T (p.Pro1008Ser)
|
rs1199013401
|
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.36C>T (p.Leu12=)
|
rs748155900
|
0.00003
|
NM_000088.4(COL1A1):c.370-9C>T
|
rs773193800
|
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.4080C>T (p.Thr1360=)
|
rs753536372
|
0.00003
|
NM_000088.4(COL1A1):c.4182C>T (p.Asn1394=)
|
rs755763693
|
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.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.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.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.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.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.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.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.549C>T (p.Pro183=)
|
rs1250249821
|
0.00002
|
NM_000088.4(COL1A1):c.642+8C>T
|
rs1003565350
|
0.00002
|
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.1149C>T (p.Gly383=)
|
rs1291096544
|
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.1380T>A (p.Pro460=)
|
rs1237735571
|
0.00001
|
NM_000088.4(COL1A1):c.1404G>A (p.Lys468=)
|
rs1240489656
|
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.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.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.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.1920C>T (p.Pro640=)
|
rs745564892
|
0.00001
|
NM_000088.4(COL1A1):c.1929+17G>C
|
rs1291997527
|
0.00001
|
NM_000088.4(COL1A1):c.2024C>A (p.Ala675Glu)
|
rs1308244294
|
0.00001
|
NM_000088.4(COL1A1):c.2054G>A (p.Arg685His)
|
rs573132397
|
0.00001
|
NM_000088.4(COL1A1):c.2072C>T (p.Pro691Leu)
|
rs775055638
|
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.2216C>T (p.Pro739Leu)
|
rs755786796
|
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.2398-14T>A
|
rs757350752
|
0.00001
|
NM_000088.4(COL1A1):c.2445C>T (p.Gly815=)
|
rs762075856
|
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.2602G>A (p.Ala868Thr)
|
rs779846520
|
0.00001
|
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=)
|
rs779337831
|
0.00001
|
NM_000088.4(COL1A1):c.2829+20T>C
|
rs372169804
|
0.00001
|
NM_000088.4(COL1A1):c.2883C>T (p.Val961=)
|
rs761548060
|
0.00001
|
NM_000088.4(COL1A1):c.3013T>C (p.Leu1005=)
|
rs772060459
|
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.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.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.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.3441T>C (p.Ala1147=)
|
rs768896689
|
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.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.3619G>A (p.Glu1207Lys)
|
rs746671446
|
0.00001
|
NM_000088.4(COL1A1):c.3641G>A (p.Arg1214His)
|
rs137987935
|
0.00001
|
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)
|
rs199514372
|
0.00001
|
NM_000088.4(COL1A1):c.3815-10C>T
|
rs770568983
|
0.00001
|
NM_000088.4(COL1A1):c.3906C>T (p.Pro1302=)
|
rs188887858
|
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.3994G>A (p.Asp1332Asn)
|
rs754984293
|
0.00001
|
NM_000088.4(COL1A1):c.4008C>T (p.Phe1336=)
|
rs763676384
|
0.00001
|
NM_000088.4(COL1A1):c.4120G>A (p.Val1374Met)
|
rs954167907
|
0.00001
|
NM_000088.4(COL1A1):c.4176C>T (p.Gly1392=)
|
rs745816283
|
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.4320C>T (p.Ile1440=)
|
rs770326881
|
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.441C>T (p.Pro147=)
|
rs1156978524
|
0.00001
|
NM_000088.4(COL1A1):c.465C>T (p.Leu155=)
|
rs1229801664
|
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.543+9G>A
|
rs111549032
|
0.00001
|
NM_000088.4(COL1A1):c.61C>T (p.His21Tyr)
|
rs777150332
|
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.945C>T (p.Ala315=)
|
rs780242725
|
0.00001
|
NM_000088.4(COL1A1):c.958-9C>T
|
rs1270507282
|
0.00001
|
NM_000088.4(COL1A1):c.979G>T (p.Ala327Ser)
|
rs769106952
|
0.00001
|
NM_000088.4(COL1A1):c.1002+15T>C
|
rs1171552644
|
|
NM_000088.4(COL1A1):c.1002+20C>T
|
|
|
NM_000088.4(COL1A1):c.1003-8A>G
|
rs2144579048
|
|
NM_000088.4(COL1A1):c.1011C>G (p.Thr337=)
|
|
|
NM_000088.4(COL1A1):c.1011C>T (p.Thr337=)
|
rs774708577
|
|
NM_000088.4(COL1A1):c.1025C>T (p.Pro342Leu)
|
|
|
NM_000088.4(COL1A1):c.103+13C>G
|
rs775514708
|
|
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.104-6T>C
|
rs2144594883
|
|
NM_000088.4(COL1A1):c.104-8dup
|
|
|
NM_000088.4(COL1A1):c.1053T>C (p.Ala351=)
|
rs1473998316
|
|
NM_000088.4(COL1A1):c.1056+18C>T
|
rs1357296523
|
|
NM_000088.4(COL1A1):c.1056+8C>G
|
|
|
NM_000088.4(COL1A1):c.1057-19G>A
|
|
|
NM_000088.4(COL1A1):c.1057-20T>G
|
|
|
NM_000088.4(COL1A1):c.1077G>A (p.Gly359=)
|
rs1419690614
|
|
NM_000088.4(COL1A1):c.1077G>T (p.Gly359=)
|
|
|
NM_000088.4(COL1A1):c.108A>G (p.Pro36=)
|
rs2144594842
|
|
NM_000088.4(COL1A1):c.1107G>A (p.Val369=)
|
|
|
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+9C>A
|
rs370459791
|
|
NM_000088.4(COL1A1):c.1156-4A>G
|
|
|
NM_000088.4(COL1A1):c.1156-4A>T
|
|
|
NM_000088.4(COL1A1):c.1203T>C (p.Gly401=)
|
|
|
NM_000088.4(COL1A1):c.1206T>C (p.Ala402=)
|
|
|
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.1251C>T (p.Pro417=)
|
|
|
NM_000088.4(COL1A1):c.1259C>G (p.Pro420Arg)
|
|
|
NM_000088.4(COL1A1):c.1268C>T (p.Pro423Leu)
|
|
|
NM_000088.4(COL1A1):c.126G>C (p.Gln42His)
|
rs1555575436
|
|
NM_000088.4(COL1A1):c.1287C>T (p.Pro429=)
|
|
|
NM_000088.4(COL1A1):c.1293T>C (p.Gly431=)
|
rs1907475173
|
|
NM_000088.4(COL1A1):c.1299+13C>T
|
|
|
NM_000088.4(COL1A1):c.1299+20T>A
|
|
|
NM_000088.4(COL1A1):c.1300-8C>A
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1300-9C>A
|
|
|
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.1354-15C>T
|
|
|
NM_000088.4(COL1A1):c.1354-4C>G
|
|
|
NM_000088.4(COL1A1):c.1354-8del
|
rs765450816
|
|
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr)
|
rs751299130
|
|
NM_000088.4(COL1A1):c.1375C>T (p.Pro459Ser)
|
|
|
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.1448C>A (p.Pro483His)
|
|
|
NM_000088.4(COL1A1):c.1450C>T (p.Pro484Ser)
|
|
|
NM_000088.4(COL1A1):c.1455C>T (p.Gly485=)
|
|
|
NM_000088.4(COL1A1):c.1462-14C>A
|
|
|
NM_000088.4(COL1A1):c.1462-19G>A
|
|
|
NM_000088.4(COL1A1):c.148C>A (p.Arg50=)
|
rs1555575425
|
|
NM_000088.4(COL1A1):c.1497T>C (p.Asp499=)
|
|
|
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.1516-6A>C
|
|
|
NM_000088.4(COL1A1):c.1516-9C>T
|
rs369076517
|
|
NM_000088.4(COL1A1):c.1520C>T (p.Pro507Leu)
|
|
|
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.1551T>C (p.Ala517=)
|
|
|
NM_000088.4(COL1A1):c.1554C>G (p.Gly518=)
|
|
|
NM_000088.4(COL1A1):c.1615-16C>T
|
rs2144570402
|
|
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.1662C>T (p.Gly554=)
|
|
|
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.1669-12T>C
|
|
|
NM_000088.4(COL1A1):c.1669-8A>G
|
|
|
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.169C>G (p.Pro57Ala)
|
|
|
NM_000088.4(COL1A1):c.1767+19T>A
|
|
|
NM_000088.4(COL1A1):c.1768-12C>G
|
|
|
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.1809C>T (p.Pro603=)
|
|
|
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.1822-6C>A
|
|
|
NM_000088.4(COL1A1):c.1828G>A (p.Ala610Thr)
|
rs1016862662
|
|
NM_000088.4(COL1A1):c.1833C>T (p.Gly611=)
|
|
|
NM_000088.4(COL1A1):c.1836A>T (p.Lys612Asn)
|
|
|
NM_000088.4(COL1A1):c.1846G>A (p.Ala616Thr)
|
|
|
NM_000088.4(COL1A1):c.1851A>G (p.Gly617=)
|
|
|
NM_000088.4(COL1A1):c.1875+15T>C
|
|
|
NM_000088.4(COL1A1):c.1875+8T>A
|
rs756572885
|
|
NM_000088.4(COL1A1):c.1876-19T>C
|
|
|
NM_000088.4(COL1A1):c.1876-6G>C
|
|
|
NM_000088.4(COL1A1):c.1884T>C (p.Ala628=)
|
|
|
NM_000088.4(COL1A1):c.1929+10C>T
|
|
|
NM_000088.4(COL1A1):c.1929+12T>C
|
|
|
NM_000088.4(COL1A1):c.1929+7C>T
|
|
|
NM_000088.4(COL1A1):c.1930-29_1930-18del
|
rs1598293534
|
|
NM_000088.4(COL1A1):c.1944T>C (p.Pro648=)
|
rs1301142840
|
|
NM_000088.4(COL1A1):c.1951C>T (p.Pro651Ser)
|
|
|
NM_000088.4(COL1A1):c.1977T>C (p.Gly659=)
|
|
|
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+20C>T
|
|
|
NM_000088.4(COL1A1):c.1983+9G>A
|
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.1984-5C>G
|
|
|
NM_000088.4(COL1A1):c.1984-6C>A
|
rs373873548
|
|
NM_000088.4(COL1A1):c.1984-6C>G
|
rs373873548
|
|
NM_000088.4(COL1A1):c.2004C>T (p.Gly668=)
|
|
|
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr)
|
rs563598815
|
|
NM_000088.4(COL1A1):c.201G>A (p.Lys67=)
|
|
|
NM_000088.4(COL1A1):c.2028+17C>G
|
|
|
NM_000088.4(COL1A1):c.2028+17C>T
|
|
|
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.2076T>C (p.Gly692=)
|
|
|
NM_000088.4(COL1A1):c.2109C>T (p.Pro703=)
|
|
|
NM_000088.4(COL1A1):c.2127+11C>T
|
|
|
NM_000088.4(COL1A1):c.2127+17A>T
|
|
|
NM_000088.4(COL1A1):c.2127+7G>C
|
rs1184194000
|
|
NM_000088.4(COL1A1):c.2128-14T>C
|
|
|
NM_000088.4(COL1A1):c.2128-17del
|
|
|
NM_000088.4(COL1A1):c.2128-20T>A
|
|
|
NM_000088.4(COL1A1):c.2128-5C>T
|
rs2144558904
|
|
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.2184A>C (p.Gly728=)
|
|
|
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.2244T>C (p.Ala748=)
|
rs2144556720
|
|
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=)
|
rs759665341
|
|
NM_000088.4(COL1A1):c.2289T>C (p.Arg763=)
|
|
|
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.2344-12C>T
|
|
|
NM_000088.4(COL1A1):c.2358C>T (p.Pro786=)
|
|
|
NM_000088.4(COL1A1):c.2361C>T (p.Ser787=)
|
|
|
NM_000088.4(COL1A1):c.2382A>G (p.Gly794=)
|
rs2144555296
|
|
NM_000088.4(COL1A1):c.2397+10G>C
|
rs2144555148
|
|
NM_000088.4(COL1A1):c.2397+15C>T
|
rs2144555128
|
|
NM_000088.4(COL1A1):c.2398-11T>C
|
|
|
NM_000088.4(COL1A1):c.2398-12C>A
|
|
|
NM_000088.4(COL1A1):c.2398-4C>T
|
rs1054580849
|
|
NM_000088.4(COL1A1):c.2400A>G (p.Gly800=)
|
rs1555572759
|
|
NM_000088.4(COL1A1):c.2427C>G (p.Gly809=)
|
|
|
NM_000088.4(COL1A1):c.2445C>A (p.Gly815=)
|
rs762075856
|
|
NM_000088.4(COL1A1):c.2445C>G (p.Gly815=)
|
|
|
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.2452-17C>A
|
|
|
NM_000088.4(COL1A1):c.2452-17C>T
|
|
|
NM_000088.4(COL1A1):c.2452-19G>T
|
|
|
NM_000088.4(COL1A1):c.2452-4C>G
|
|
|
NM_000088.4(COL1A1):c.2452-4C>T
|
rs1267688094
|
|
NM_000088.4(COL1A1):c.2457T>C (p.Ala819=)
|
|
|
NM_000088.4(COL1A1):c.2460C>T (p.Asp820=)
|
|
|
NM_000088.4(COL1A1):c.246C>G (p.Pro82=)
|
|
|
NM_000088.4(COL1A1):c.24G>A (p.Arg8=)
|
|
|
NM_000088.4(COL1A1):c.2508C>A (p.Gly836=)
|
|
|
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly)
|
rs775095655
|
|
NM_000088.4(COL1A1):c.2521C>T (p.Pro841Ser)
|
|
|
NM_000088.4(COL1A1):c.2530G>T (p.Ala844Ser)
|
|
|
NM_000088.4(COL1A1):c.2532C>A (p.Ala844=)
|
|
|
NM_000088.4(COL1A1):c.2554C>T (p.Pro852Ser)
|
|
|
NM_000088.4(COL1A1):c.2559+13G>A
|
|
|
NM_000088.4(COL1A1):c.2560-16C>T
|
|
|
NM_000088.4(COL1A1):c.2560-18C>A
|
|
|
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.2573C>T (p.Ala858Val)
|
|
|
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.2598C>G (p.Gly866=)
|
rs1388778878
|
|
NM_000088.4(COL1A1):c.2613+17T>G
|
|
|
NM_000088.4(COL1A1):c.2614-20C>G
|
|
|
NM_000088.4(COL1A1):c.2619T>C (p.Ala873=)
|
rs1321978569
|
|
NM_000088.4(COL1A1):c.261C>G (p.Pro87=)
|
|
|
NM_000088.4(COL1A1):c.2643C>G (p.Gly881=)
|
rs1414204760
|
|
NM_000088.4(COL1A1):c.2644C>A (p.Arg882=)
|
|
|
NM_000088.4(COL1A1):c.2667+10T>A
|
|
|
NM_000088.4(COL1A1):c.2667+17G>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.267C>A (p.Gly89=)
|
|
|
NM_000088.4(COL1A1):c.2684C>T (p.Pro895Leu)
|
|
|
NM_000088.4(COL1A1):c.2702C>T (p.Ala901Val)
|
|
|
NM_000088.4(COL1A1):c.2721A>G (p.Lys907=)
|
|
|
NM_000088.4(COL1A1):c.2729G>A (p.Arg910His)
|
|
|
NM_000088.4(COL1A1):c.2748T>C (p.Ala916=)
|
|
|
NM_000088.4(COL1A1):c.2829+15A>G
|
rs2144549780
|
|
NM_000088.4(COL1A1):c.2829+8C>T
|
|
|
NM_000088.4(COL1A1):c.2830-17C>T
|
rs755300568
|
|
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>T (p.Pro949Ser)
|
rs1434279534
|
|
NM_000088.4(COL1A1):c.2856A>G (p.Gln952=)
|
|
|
NM_000088.4(COL1A1):c.288C>G (p.Pro96=)
|
|
|
NM_000088.4(COL1A1):c.2892T>C (p.Pro964=)
|
|
|
NM_000088.4(COL1A1):c.2892T>G (p.Pro964=)
|
rs753585193
|
|
NM_000088.4(COL1A1):c.2907G>A (p.Glu969=)
|
|
|
NM_000088.4(COL1A1):c.2922T>C (p.Gly974=)
|
|
|
NM_000088.4(COL1A1):c.2925T>C (p.Leu975=)
|
rs2144548840
|
|
NM_000088.4(COL1A1):c.2931C>A (p.Gly977=)
|
rs374615784
|
|
NM_000088.4(COL1A1):c.2934C>T (p.Pro978=)
|
|
|
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.2938-7C>G
|
|
|
NM_000088.4(COL1A1):c.2949C>T (p.Gly983=)
|
|
|
NM_000088.4(COL1A1):c.294C>T (p.Gly98=)
|
|
|
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+20C>T
|
|
|
NM_000088.4(COL1A1):c.2982T>C (p.Arg994=)
|
rs1598288661
|
|
NM_000088.4(COL1A1):c.299-4C>T
|
rs780745594
|
|
NM_000088.4(COL1A1):c.3016G>T (p.Ala1006Ser)
|
|
|
NM_000088.4(COL1A1):c.3023C>T (p.Pro1008Leu)
|
rs1484351533
|
|
NM_000088.4(COL1A1):c.3045+15G>A
|
rs2144547381
|
|
NM_000088.4(COL1A1):c.3045+18C>T
|
|
|
NM_000088.4(COL1A1):c.3046-20CT[10]
|
rs138425306
|
|
NM_000088.4(COL1A1):c.3046-4G>T
|
|
|
NM_000088.4(COL1A1):c.3061G>A (p.Glu1021Lys)
|
|
|
NM_000088.4(COL1A1):c.3081C>T (p.Asp1027=)
|
|
|
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.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.3100-8C>A
|
|
|
NM_000088.4(COL1A1):c.3139G>C (p.Ala1047Pro)
|
rs544409032
|
|
NM_000088.4(COL1A1):c.3207+12G>A
|
|
|
NM_000088.4(COL1A1):c.3207+8G>T
|
rs866785621
|
|
NM_000088.4(COL1A1):c.3208-15C>T
|
|
|
NM_000088.4(COL1A1):c.3208-4C>A
|
rs1221398462
|
|
NM_000088.4(COL1A1):c.3213T>C (p.Pro1071=)
|
|
|
NM_000088.4(COL1A1):c.321C>T (p.Thr107=)
|
|
|
NM_000088.4(COL1A1):c.3225C>A (p.Ala1075=)
|
|
|
NM_000088.4(COL1A1):c.3225C>T (p.Ala1075=)
|
|
|
NM_000088.4(COL1A1):c.3234C>T (p.Val1078=)
|
|
|
NM_000088.4(COL1A1):c.3237C>T (p.Gly1079=)
|
|
|
NM_000088.4(COL1A1):c.3252T>G (p.Arg1084=)
|
|
|
NM_000088.4(COL1A1):c.3255C>A (p.Gly1085=)
|
rs369670483
|
|
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+9C>A
|
|
|
NM_000088.4(COL1A1):c.3262-15C>T
|
|
|
NM_000088.4(COL1A1):c.3262-17C>T
|
|
|
NM_000088.4(COL1A1):c.3262-20T>A
|
rs1906706503
|
|
NM_000088.4(COL1A1):c.3279T>G (p.Arg1093=)
|
|
|
NM_000088.4(COL1A1):c.3300C>A (p.Gly1100=)
|
|
|
NM_000088.4(COL1A1):c.3310G>A (p.Asp1104Asn)
|
|
|
NM_000088.4(COL1A1):c.3327T>C (p.Gly1109=)
|
|
|
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.334-5C>T
|
rs115997082
|
|
NM_000088.4(COL1A1):c.334-6C>T
|
rs1598301467
|
|
NM_000088.4(COL1A1):c.3345C>T (p.Gly1115=)
|
|
|
NM_000088.4(COL1A1):c.3355C>A (p.Pro1119Thr)
|
|
|
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+20C>T
|
|
|
NM_000088.4(COL1A1):c.3369+9G>T
|
rs1009435359
|
|
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.33C>G (p.Leu11=)
|
rs1024499126
|
|
NM_000088.4(COL1A1):c.3417T>C (p.Gly1139=)
|
|
|
NM_000088.4(COL1A1):c.3423+9T>C
|
|
|
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.3429C>G (p.Pro1143=)
|
rs762386727
|
|
NM_000088.4(COL1A1):c.344G>A (p.Gly115Glu)
|
|
|
NM_000088.4(COL1A1):c.3465C>G (p.Leu1155=)
|
|
|
NM_000088.4(COL1A1):c.3468C>G (p.Asn1156Lys)
|
|
|
NM_000088.4(COL1A1):c.3471T>G (p.Gly1157=)
|
rs2144538994
|
|
NM_000088.4(COL1A1):c.3486T>A (p.Ile1162=)
|
|
|
NM_000088.4(COL1A1):c.3492C>A (p.Pro1164=)
|
|
|
NM_000088.4(COL1A1):c.3509G>A (p.Arg1170His)
|
|
|
NM_000088.4(COL1A1):c.3531+10C>T
|
rs41316721
|
|
NM_000088.4(COL1A1):c.3532-14C>T
|
|
|
NM_000088.4(COL1A1):c.3532-18T>C
|
rs1906596208
|
|
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.354C>T (p.Gly118=)
|
|
|
NM_000088.4(COL1A1):c.3564C>G (p.Pro1188=)
|
|
|
NM_000088.4(COL1A1):c.356C>G (p.Pro119Arg)
|
|
|
NM_000088.4(COL1A1):c.3585T>C (p.Gly1195=)
|
rs1906585690
|
|
NM_000088.4(COL1A1):c.3594C>T (p.Phe1198=)
|
|
|
NM_000088.4(COL1A1):c.3618A>G (p.Gln1206=)
|
|
|
NM_000088.4(COL1A1):c.3637G>A (p.Gly1213Ser)
|
|
|
NM_000088.4(COL1A1):c.3645C>T (p.Tyr1215=)
|
|
|
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.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.3714G>A (p.Leu1238=)
|
|
|
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.3758A>G (p.Lys1253Arg)
|
|
|
NM_000088.4(COL1A1):c.375C>T (p.Pro125=)
|
|
|
NM_000088.4(COL1A1):c.376G>T (p.Ala126Ser)
|
rs1424117367
|
|
NM_000088.4(COL1A1):c.3795C>T (p.Cys1265=)
|
|
|
NM_000088.4(COL1A1):c.3798C>T (p.His1266=)
|
rs1567752621
|
|
NM_000088.4(COL1A1):c.3814+18C>T
|
|
|
NM_000088.4(COL1A1):c.3814+19C>A
|
|
|
NM_000088.4(COL1A1):c.3815-11C>T
|
|
|
NM_000088.4(COL1A1):c.3815-7_3815-6insT
|
rs1598285133
|
|
NM_000088.4(COL1A1):c.3815-8T>A
|
rs1598285150
|
|
NM_000088.4(COL1A1):c.381C>A (p.Gly127=)
|
|
|
NM_000088.4(COL1A1):c.381C>T (p.Gly127=)
|
|
|
NM_000088.4(COL1A1):c.3837C>T (p.Asn1279=)
|
|
|
NM_000088.4(COL1A1):c.384C>A (p.Pro128=)
|
rs1907857933
|
|
NM_000088.4(COL1A1):c.3882G>A (p.Glu1294=)
|
|
|
NM_000088.4(COL1A1):c.3900G>A (p.Val1300=)
|
rs1337482864
|
|
NM_000088.4(COL1A1):c.3914C>T (p.Pro1305Leu)
|
rs201746814
|
|
NM_000088.4(COL1A1):c.3969T>C (p.His1323=)
|
|
|
NM_000088.4(COL1A1):c.3981C>T (p.Gly1327=)
|
|
|
NM_000088.4(COL1A1):c.3995A>G (p.Asp1332Gly)
|
|
|
NM_000088.4(COL1A1):c.3996T>C (p.Asp1332=)
|
rs1555571730
|
|
NM_000088.4(COL1A1):c.4005+10C>G
|
|
|
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.4006-20del
|
rs1194886388
|
|
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.4017C>A (p.Gly1339=)
|
rs201256042
|
|
NM_000088.4(COL1A1):c.4018G>T (p.Gly1340Cys)
|
|
|
NM_000088.4(COL1A1):c.4020C>G (p.Gly1340=)
|
|
|
NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn)
|
rs982770651
|
|
NM_000088.4(COL1A1):c.405T>C (p.Pro135=)
|
|
|
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.4183G>A (p.Glu1395Lys)
|
rs373474549
|
|
NM_000088.4(COL1A1):c.4236C>T (p.Val1412=)
|
rs532172482
|
|
NM_000088.4(COL1A1):c.4239T>C (p.Asp1413=)
|
|
|
NM_000088.4(COL1A1):c.4242C>T (p.Gly1414=)
|
|
|
NM_000088.4(COL1A1):c.4248+17C>T
|
|
|
NM_000088.4(COL1A1):c.4249-14C>T
|
rs756459768
|
|
NM_000088.4(COL1A1):c.4249-6C>T
|
|
|
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[3] (p.143PPG[5])
|
rs769867566
|
|
NM_000088.4(COL1A1):c.4329C>G (p.Ala1443=)
|
|
|
NM_000088.4(COL1A1):c.432C>T (p.Pro144=)
|
|
|
NM_000088.4(COL1A1):c.436C>A (p.Pro146Thr)
|
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.4392G>A (p.Leu1464=)
|
|
|
NM_000088.4(COL1A1):c.462C>A (p.Gly154=)
|
|
|
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.486G>A (p.Gln162=)
|
|
|
NM_000088.4(COL1A1):c.487C>T (p.Leu163=)
|
|
|
NM_000088.4(COL1A1):c.501T>C (p.Tyr167=)
|
rs946705319
|
|
NM_000088.4(COL1A1):c.516C>A (p.Thr172=)
|
|
|
NM_000088.4(COL1A1):c.516C>T (p.Thr172=)
|
rs377195143
|
|
NM_000088.4(COL1A1):c.543+18G>C
|
|
|
NM_000088.4(COL1A1):c.544-5T>C
|
rs1598300378
|
|
NM_000088.4(COL1A1):c.544-6C>T
|
|
|
NM_000088.4(COL1A1):c.552T>G (p.Ser184=)
|
|
|
NM_000088.4(COL1A1):c.560G>A (p.Arg187His)
|
|
|
NM_000088.4(COL1A1):c.576C>T (p.Pro192=)
|
rs747650152
|
|
NM_000088.4(COL1A1):c.588+15C>G
|
rs371817394
|
|
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.589-7TC[3]
|
|
|
NM_000088.4(COL1A1):c.618T>A (p.Gly206=)
|
|
|
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.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.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.643-20_643-19del
|
|
|
NM_000088.4(COL1A1):c.643-9C>A
|
rs1907724010
|
|
NM_000088.4(COL1A1):c.659G>A (p.Arg220Gln)
|
|
|
NM_000088.4(COL1A1):c.696+11C>T
|
|
|
NM_000088.4(COL1A1):c.696+9C>A
|
|
|
NM_000088.4(COL1A1):c.69A>G (p.Gln23=)
|
rs780775891
|
|
NM_000088.4(COL1A1):c.71A>G (p.Glu24Gly)
|
|
|
NM_000088.4(COL1A1):c.84C>A (p.Val28=)
|
|
|
NM_000088.4(COL1A1):c.972T>C (p.Asn324=)
|
rs565335839
|
|
NM_000088.4(COL1A1):c.997C>T (p.Pro333Ser)
|
|
|