NM_000088.4(COL1A1):c.3761A>C (p.Asn1254Thr)
|
rs766709517
|
0.00148
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
NM_000088.4(COL1A1):c.334-5C>A
|
rs115997082
|
0.00035
|
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.1691G>A (p.Arg564His)
|
rs1800211
|
0.00021
|
NM_000088.4(COL1A1):c.3100-6C>T
|
rs377123276
|
0.00019
|
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.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.4030G>A (p.Asp1344Asn)
|
rs371547661
|
0.00012
|
NM_000088.4(COL1A1):c.144T>A (p.His48Gln)
|
rs374065372
|
0.00011
|
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.4376G>C (p.Gly1459Ala)
|
rs767250343
|
0.00009
|
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn)
|
rs372215246
|
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.3779G>A (p.Arg1260His)
|
rs774001209
|
0.00006
|
NM_000088.4(COL1A1):c.4005+5G>A
|
rs778417218
|
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.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.2090G>A (p.Arg697Gln)
|
rs202221716
|
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.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.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.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.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.1062A>T (p.Glu354Asp)
|
rs778733293
|
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.2608C>G (p.Pro870Ala)
|
rs771918127
|
0.00002
|
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser)
|
rs756337302
|
0.00002
|
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)
|
rs72656307
|
0.00002
|
NM_000088.4(COL1A1):c.427C>T (p.Pro143Ser)
|
rs570526849
|
0.00002
|
NM_000088.4(COL1A1):c.696+6T>C
|
rs747108049
|
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.1153G>A (p.Ala385Thr)
|
rs548048698
|
0.00001
|
NM_000088.4(COL1A1):c.1207C>G (p.Pro403Ala)
|
rs762809403
|
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.1875+3G>T
|
rs138164489
|
0.00001
|
NM_000088.4(COL1A1):c.1925T>A (p.Phe642Tyr)
|
rs773957707
|
0.00001
|
NM_000088.4(COL1A1):c.2053C>T (p.Arg685Cys)
|
rs764826942
|
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.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.298+5G>T
|
rs757231152
|
0.00001
|
NM_000088.4(COL1A1):c.3025C>T (p.Pro1009Ser)
|
rs794727663
|
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.3197G>A (p.Arg1066His)
|
rs752075205
|
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.4213C>T (p.Arg1405Cys)
|
rs1279465588
|
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
|
NM_000088.4(COL1A1):c.-98G>A
|
rs574683904
|
|
NM_000088.4(COL1A1):c.1002+6T>G
|
rs2144579702
|
|
NM_000088.4(COL1A1):c.1019C>T (p.Ala340Val)
|
rs1412901667
|
|
NM_000088.4(COL1A1):c.103+7C>T
|
rs2144600046
|
|
NM_000088.4(COL1A1):c.1037C>T (p.Pro346Leu)
|
rs372658559
|
|
NM_000088.4(COL1A1):c.1082G>A (p.Arg361Gln)
|
|
|
NM_000088.4(COL1A1):c.1108C>T (p.Arg370Cys)
|
|
|
NM_000088.4(COL1A1):c.1123C>T (p.Pro375Ser)
|
rs567855944
|
|
NM_000088.4(COL1A1):c.1126C>T (p.Pro376Ser)
|
|
|
NM_000088.4(COL1A1):c.1200+6T>C
|
rs2144576638
|
|
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser)
|
rs72648327
|
|
NM_000088.4(COL1A1):c.124C>A (p.Gln42Lys)
|
|
|
NM_000088.4(COL1A1):c.1351C>G (p.Pro451Ala)
|
rs1907454557
|
|
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr)
|
rs751299130
|
|
NM_000088.4(COL1A1):c.1433C>G (p.Thr478Ser)
|
|
|
NM_000088.4(COL1A1):c.1450C>T (p.Pro484Ser)
|
|
|
NM_000088.4(COL1A1):c.1459C>A (p.Arg487Ser)
|
|
|
NM_000088.4(COL1A1):c.1515+19C>T
|
|
|
NM_000088.4(COL1A1):c.1520C>T (p.Pro507Leu)
|
|
|
NM_000088.4(COL1A1):c.1538C>T (p.Ser513Phe)
|
|
|
NM_000088.4(COL1A1):c.1567C>G (p.Pro523Ala)
|
rs764315746
|
|
NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg)
|
rs72648359
|
|
NM_000088.4(COL1A1):c.1717G>C (p.Ala573Pro)
|
rs753501091
|
|
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.1767+3_1767+6del
|
rs886042301
|
|
NM_000088.4(COL1A1):c.1767+4A>G
|
rs2144569023
|
|
NM_000088.4(COL1A1):c.178A>T (p.Ile60Phe)
|
|
|
NM_000088.4(COL1A1):c.1810C>G (p.Pro604Ala)
|
rs868525869
|
|
NM_000088.4(COL1A1):c.1838A>G (p.Asp613Gly)
|
|
|
NM_000088.4(COL1A1):c.1906C>T (p.Pro636Ser)
|
|
|
NM_000088.4(COL1A1):c.1984-6C>A
|
rs373873548
|
|
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr)
|
rs563598815
|
|
NM_000088.4(COL1A1):c.209G>A (p.Cys70Tyr)
|
rs1221233834
|
|
NM_000088.4(COL1A1):c.2143C>T (p.Pro715Ser)
|
rs886043618
|
|
NM_000088.4(COL1A1):c.2180A>C (p.Gln727Pro)
|
rs749032265
|
|
NM_000088.4(COL1A1):c.2257G>A (p.Ala753Thr)
|
rs764478745
|
|
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.2361C>A (p.Ser787Arg)
|
|
|
NM_000088.4(COL1A1):c.2393C>T (p.Ala798Val)
|
|
|
NM_000088.4(COL1A1):c.2428C>T (p.Pro810Ser)
|
rs1555572744
|
|
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly)
|
rs775095655
|
|
NM_000088.4(COL1A1):c.2522C>A (p.Pro841His)
|
|
|
NM_000088.4(COL1A1):c.2535A>C (p.Gly845=)
|
rs886043649
|
|
NM_000088.4(COL1A1):c.2594_2595delinsTT (p.Arg865Leu)
|
rs2144552163
|
|
NM_000088.4(COL1A1):c.2599A>C (p.Ser867Arg)
|
rs1906915002
|
|
NM_000088.4(COL1A1):c.260C>T (p.Pro87Leu)
|
rs926503489
|
|
NM_000088.4(COL1A1):c.2824C>T (p.Pro942Ser)
|
|
|
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=)
|
rs1555572418
|
|
NM_000088.4(COL1A1):c.2906A>G (p.Glu969Gly)
|
|
|
NM_000088.4(COL1A1):c.3023C>T (p.Pro1008Leu)
|
rs1484351533
|
|
NM_000088.4(COL1A1):c.3045G>A (p.Glu1015=)
|
|
|
NM_000088.4(COL1A1):c.3207+8G>T
|
rs866785621
|
|
NM_000088.4(COL1A1):c.3208-19C>T
|
|
|
NM_000088.4(COL1A1):c.3256C>T (p.Pro1086Ser)
|
|
|
NM_000088.4(COL1A1):c.325G>A (p.Gly109Ser)
|
rs762315953
|
|
NM_000088.4(COL1A1):c.3300C>T (p.Gly1100=)
|
rs1349721736
|
|
NM_000088.4(COL1A1):c.3301G>A (p.Glu1101Lys)
|
|
|
NM_000088.4(COL1A1):c.3313A>G (p.Arg1105Gly)
|
rs1555572101
|
|
NM_000088.4(COL1A1):c.3358C>T (p.Pro1120Ser)
|
rs1906697025
|
|
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.3412G>T (p.Ala1138Ser)
|
rs1064796592
|
|
NM_000088.4(COL1A1):c.346G>C (p.Asp116His)
|
|
|
NM_000088.4(COL1A1):c.347A>G (p.Asp116Gly)
|
rs1907874708
|
|
NM_000088.4(COL1A1):c.3585T>C (p.Gly1195=)
|
rs1906585690
|
|
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.3815-3C>T
|
|
|
NM_000088.4(COL1A1):c.3827T>G (p.Ile1276Ser)
|
|
|
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)
|
rs761672800
|
|
NM_000088.4(COL1A1):c.3898G>T (p.Val1300Leu)
|
|
|
NM_000088.4(COL1A1):c.3923C>A (p.Ala1308Asp)
|
rs1370247898
|
|
NM_000088.4(COL1A1):c.3963G>C (p.Lys1321Asn)
|
rs764729498
|
|
NM_000088.4(COL1A1):c.4019G>A (p.Gly1340Asp)
|
|
|
NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn)
|
|
|
NM_000088.4(COL1A1):c.4054C>G (p.Leu1352Val)
|
rs1906478020
|
|
NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn)
|
rs982770651
|
|
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.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.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[3] (p.143PPG[5])
|
rs769867566
|
|
NM_000088.4(COL1A1):c.4338C>G (p.Asp1446Glu)
|
|
|
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.4372G>C (p.Val1458Leu)
|
rs138557594
|
|
NM_000088.4(COL1A1):c.471+5G>C
|
rs1555575015
|
|
NM_000088.4(COL1A1):c.472-4C>G
|
rs753888456
|
|
NM_000088.4(COL1A1):c.516C>T (p.Thr172=)
|
rs377195143
|
|
NM_000088.4(COL1A1):c.529G>A (p.Val177Met)
|
|
|
NM_000088.4(COL1A1):c.574C>G (p.Pro192Ala)
|
|
|
NM_000088.4(COL1A1):c.588+4A>G
|
rs72667026
|
|
NM_000088.4(COL1A1):c.642+4A>G
|
|
|
NM_000088.4(COL1A1):c.646C>A (p.Pro216Thr)
|
rs766891244
|
|
NM_000088.4(COL1A1):c.6C>T (p.Phe2=)
|
|
|
NM_000088.4(COL1A1):c.989C>A (p.Ala330Asp)
|
|
|
NM_000088.4(COL1A1):c.992C>T (p.Ala331Val)
|
rs762653813
|
|
NM_000088.4(COL1A1):c.998C>T (p.Pro333Leu)
|
rs1907567727
|
|