NM_000088.4(COL1A1):c.*1011T>C
|
rs1061970
|
0.12435
|
NM_000088.4(COL1A1):c.*1165C>G
|
rs149419718
|
0.00794
|
NM_000088.4(COL1A1):c.2452-23del
|
rs146899953
|
0.00427
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_000088.4(COL1A1):c.-57G>A
|
rs2734278
|
0.00229
|
NM_000088.4(COL1A1):c.*548C>A
|
rs557681960
|
0.00220
|
NM_000088.4(COL1A1):c.*378C>G
|
rs148131473
|
0.00150
|
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)
|
rs117672175
|
0.00073
|
NM_000088.4(COL1A1):c.3099+7T>C
|
rs201682029
|
0.00066
|
NM_000088.4(COL1A1):c.1461+13G>T
|
rs371161009
|
0.00061
|
NM_000088.4(COL1A1):c.3571C>G (p.Pro1191Ala)
|
rs142570406
|
0.00059
|
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=)
|
rs148737409
|
0.00054
|
NM_000088.4(COL1A1):c.*981G>C
|
rs574167621
|
0.00045
|
NM_000088.4(COL1A1):c.3424-6C>A
|
rs370865189
|
0.00044
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
NM_000088.4(COL1A1):c.-66G>A
|
rs565562045
|
0.00039
|
NM_000088.4(COL1A1):c.462C>T (p.Gly154=)
|
rs41317351
|
0.00038
|
NM_000088.4(COL1A1):c.*1087C>T
|
rs557843360
|
0.00036
|
NM_000088.4(COL1A1):c.334-5C>A
|
rs115997082
|
0.00035
|
NM_000088.4(COL1A1):c.*631G>A
|
rs569577942
|
0.00033
|
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.1768-8C>T
|
rs193922142
|
0.00030
|
NM_000088.4(COL1A1):c.*836C>T
|
rs527358320
|
0.00028
|
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.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.*120T>C
|
rs773014749
|
0.00017
|
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.1615-14C>T
|
rs190098788
|
0.00016
|
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln)
|
rs139593707
|
0.00014
|
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=)
|
rs776387246
|
0.00013
|
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.77G>A (p.Gly26Asp)
|
rs151171179
|
0.00011
|
NM_000088.4(COL1A1):c.*1384_*1387del
|
rs886053139
|
0.00010
|
NM_000088.4(COL1A1):c.*502C>T
|
rs1004356084
|
0.00010
|
NM_000088.4(COL1A1):c.*342C>A
|
rs1253268385
|
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.2424C>T (p.Pro808=)
|
rs369699409
|
0.00008
|
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile)
|
rs575285203
|
0.00008
|
NM_000088.4(COL1A1):c.3532-3C>T
|
rs369283493
|
0.00007
|
NM_000088.4(COL1A1):c.*21G>C
|
rs201085309
|
0.00006
|
NM_000088.4(COL1A1):c.*714C>T
|
rs567392981
|
0.00006
|
NM_000088.4(COL1A1):c.1155+12C>T
|
rs774034198
|
0.00006
|
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)
|
rs375695940
|
0.00006
|
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn)
|
rs372215246
|
0.00006
|
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr)
|
rs150803124
|
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.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.*1151C>T
|
rs536196631
|
0.00005
|
NM_000088.4(COL1A1):c.*1205C>G
|
rs551536386
|
0.00005
|
NM_000088.4(COL1A1):c.1200+5G>A
|
rs374322003
|
0.00005
|
NM_000088.4(COL1A1):c.*285C>A
|
rs990020766
|
0.00004
|
NM_000088.4(COL1A1):c.1721G>A (p.Arg574His)
|
rs763788602
|
0.00004
|
NM_000088.4(COL1A1):c.1929+4A>C
|
rs376244140
|
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.3630C>T (p.His1210=)
|
rs745320719
|
0.00004
|
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)
|
rs371904584
|
0.00004
|
NM_000088.4(COL1A1):c.395A>G (p.Asp132Gly)
|
rs746847841
|
0.00004
|
NM_000088.4(COL1A1):c.401T>A (p.Ile134Asn)
|
rs771647906
|
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.4196G>A (p.Arg1399His)
|
rs146035171
|
0.00004
|
NM_000088.4(COL1A1):c.4214G>A (p.Arg1405His)
|
rs770826227
|
0.00004
|
NM_000088.4(COL1A1):c.*682C>T
|
rs77720683
|
0.00003
|
NM_000088.4(COL1A1):c.*733G>A
|
rs886053148
|
0.00003
|
NM_000088.4(COL1A1):c.*795C>T
|
rs886053147
|
0.00003
|
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=)
|
rs765154255
|
0.00003
|
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His)
|
rs780422688
|
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.2945C>T (p.Pro982Leu)
|
rs940298764
|
0.00003
|
NM_000088.4(COL1A1):c.298+6G>T
|
rs753705753
|
0.00003
|
NM_000088.4(COL1A1):c.3045+3G>A
|
rs41316695
|
0.00003
|
NM_000088.4(COL1A1):c.3727G>A (p.Glu1243Lys)
|
rs373777457
|
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.*251dup
|
rs886053154
|
0.00002
|
NM_000088.4(COL1A1):c.*93A>G
|
rs367971695
|
0.00002
|
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=)
|
rs543735501
|
0.00002
|
NM_000088.4(COL1A1):c.1299C>T (p.Ser433=)
|
rs776229611
|
0.00002
|
NM_000088.4(COL1A1):c.1675G>A (p.Ala559Thr)
|
rs558173513
|
0.00002
|
NM_000088.4(COL1A1):c.1793G>A (p.Arg598Gln)
|
rs757147791
|
0.00002
|
NM_000088.4(COL1A1):c.2451T>C (p.Pro817=)
|
rs374465457
|
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.3532-12C>T
|
rs200458986
|
0.00002
|
NM_000088.4(COL1A1):c.3535C>A (p.Pro1179Thr)
|
rs779767483
|
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.696+6T>C
|
rs747108049
|
0.00002
|
NM_000088.4(COL1A1):c.*194G>A
|
rs886053158
|
0.00001
|
NM_000088.4(COL1A1):c.*837G>A
|
rs564977858
|
0.00001
|
NM_000088.4(COL1A1):c.-115G>A
|
rs886053164
|
0.00001
|
NM_000088.4(COL1A1):c.-23G>A
|
rs200689194
|
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.1153G>A (p.Ala385Thr)
|
rs548048698
|
0.00001
|
NM_000088.4(COL1A1):c.1423C>A (p.Pro475Thr)
|
rs1394634754
|
0.00001
|
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr)
|
rs1051473344
|
0.00001
|
NM_000088.4(COL1A1):c.1540C>T (p.Pro514Ser)
|
rs753739947
|
0.00001
|
NM_000088.4(COL1A1):c.164C>A (p.Pro55His)
|
rs771489142
|
0.00001
|
NM_000088.4(COL1A1):c.1669-10C>A
|
rs886053162
|
0.00001
|
NM_000088.4(COL1A1):c.1763C>A (p.Ala588Asp)
|
rs771593907
|
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.2036G>C (p.Arg679Thr)
|
rs972507105
|
0.00001
|
NM_000088.4(COL1A1):c.2053C>T (p.Arg685Cys)
|
rs764826942
|
0.00001
|
NM_000088.4(COL1A1):c.2059G>A (p.Val687Met)
|
rs553233250
|
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.2333C>T (p.Pro778Leu)
|
rs1181679779
|
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.23G>A (p.Arg8Gln)
|
rs1196007286
|
0.00001
|
NM_000088.4(COL1A1):c.2404C>T (p.Arg802Cys)
|
rs1459870410
|
0.00001
|
NM_000088.4(COL1A1):c.2464C>G (p.Gln822Glu)
|
rs72651668
|
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.2796C>T (p.Gly932=)
|
rs746453576
|
0.00001
|
NM_000088.4(COL1A1):c.287C>T (p.Pro96Leu)
|
rs747163212
|
0.00001
|
NM_000088.4(COL1A1):c.2981G>A (p.Arg994His)
|
rs548928043
|
0.00001
|
NM_000088.4(COL1A1):c.3045+11C>T
|
rs201349683
|
0.00001
|
NM_000088.4(COL1A1):c.308C>T (p.Thr103Ile)
|
rs369883704
|
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.3333T>C (p.Arg1111=)
|
rs372044347
|
0.00001
|
NM_000088.4(COL1A1):c.3529G>A (p.Val1177Ile)
|
rs41316719
|
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.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.3994G>A (p.Asp1332Asn)
|
rs754984293
|
0.00001
|
NM_000088.4(COL1A1):c.399C>T (p.Gly133=)
|
rs775246452
|
0.00001
|
NM_000088.4(COL1A1):c.4040A>G (p.Asp1347Gly)
|
rs772033648
|
0.00001
|
NM_000088.4(COL1A1):c.4174G>A (p.Gly1392Ser)
|
rs377379528
|
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.4258G>A (p.Gly1420Arg)
|
rs139388334
|
0.00001
|
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met)
|
rs763025405
|
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.4339G>A (p.Val1447Ile)
|
rs367952133
|
0.00001
|
NM_000088.4(COL1A1):c.4373T>C (p.Val1458Ala)
|
rs775026377
|
0.00001
|
NM_000088.4(COL1A1):c.471+6T>C
|
rs1276599083
|
0.00001
|
NM_000088.4(COL1A1):c.497G>T (p.Gly166Val)
|
rs372514953
|
0.00001
|
NM_000088.4(COL1A1):c.628G>A (p.Glu210Lys)
|
rs766407680
|
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.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
|
NC_000017.10:g.(?_48262863)_(48278874_?)dup
|
|
|
NC_000017.10:g.(?_48264825)_(48278874_?)dup
|
|
|
NC_000017.10:g.(?_48265217)_(48278874_?)dup
|
|
|
NC_000017.11:g.(?_50190233)_(50190390_?)dup
|
|
|
NM_000088.4(COL1A1):c.*1007_*1008del
|
rs886053144
|
|
NM_000088.4(COL1A1):c.*1026TG[1]
|
rs878983048
|
|
NM_000088.4(COL1A1):c.*1026_*1028del
|
rs751268781
|
|
NM_000088.4(COL1A1):c.*1027G>T
|
rs200882287
|
|
NM_000088.4(COL1A1):c.*1027del
|
rs878912123
|
|
NM_000088.4(COL1A1):c.*1029_*1031del
|
rs886053143
|
|
NM_000088.4(COL1A1):c.*1030_*1031del
|
rs886053142
|
|
NM_000088.4(COL1A1):c.*1045del
|
rs886053141
|
|
NM_000088.4(COL1A1):c.*1316C>G
|
rs967567610
|
|
NM_000088.4(COL1A1):c.*1324A>G
|
rs886053140
|
|
NM_000088.4(COL1A1):c.*215del
|
rs886053157
|
|
NM_000088.4(COL1A1):c.*242_*244dup
|
rs56302025
|
|
NM_000088.4(COL1A1):c.*243_*244dup
|
rs56302025
|
|
NM_000088.4(COL1A1):c.*245_*246dup
|
rs886053155
|
|
NM_000088.4(COL1A1):c.*245del
|
rs886053156
|
|
NM_000088.4(COL1A1):c.*255dup
|
rs886053153
|
|
NM_000088.4(COL1A1):c.*257_*258dup
|
rs886053152
|
|
NM_000088.4(COL1A1):c.*258dup
|
rs886053152
|
|
NM_000088.4(COL1A1):c.*259_*260insAT
|
rs886053151
|
|
NM_000088.4(COL1A1):c.*356T>A
|
rs1906365029
|
|
NM_000088.4(COL1A1):c.*437A>C
|
rs886053150
|
|
NM_000088.4(COL1A1):c.*623G>A
|
rs886053149
|
|
NM_000088.4(COL1A1):c.*73C>A
|
rs1906402899
|
|
NM_000088.4(COL1A1):c.*815A>G
|
rs886053146
|
|
NM_000088.4(COL1A1):c.*998_*999del
|
rs886053145
|
|
NM_000088.4(COL1A1):c.-78_-77delinsAA
|
rs886053163
|
|
NM_000088.4(COL1A1):c.-98G>C
|
rs574683904
|
|
NM_000088.4(COL1A1):c.1000C>T (p.Pro334Ser)
|
rs1156650562
|
|
NM_000088.4(COL1A1):c.103+16T>C
|
rs548069648
|
|
NM_000088.4(COL1A1):c.103+3_103+8del
|
|
|
NM_000088.4(COL1A1):c.1057-3C>G
|
rs1555574180
|
|
NM_000088.4(COL1A1):c.1082G>A (p.Arg361Gln)
|
|
|
NM_000088.4(COL1A1):c.1082_1099dup (p.Arg361_Pro366dup)
|
rs2144577608
|
|
NM_000088.4(COL1A1):c.1092A>C (p.Glu364Asp)
|
rs1907515907
|
|
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.1115A>G (p.Glu372Gly)
|
|
|
NM_000088.4(COL1A1):c.1145C>T (p.Ala382Val)
|
|
|
NM_000088.4(COL1A1):c.1199A>G (p.Asn400Ser)
|
|
|
NM_000088.4(COL1A1):c.1200+3A>G
|
|
|
NM_000088.4(COL1A1):c.1200+5G>C
|
|
|
NM_000088.4(COL1A1):c.1205C>T (p.Ala402Val)
|
|
|
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.1238G>C (p.Gly413Ala)
|
rs72648325
|
|
NM_000088.4(COL1A1):c.1240G>T (p.Ala414Ser)
|
rs2144575819
|
|
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.1259C>T (p.Pro420Leu)
|
|
|
NM_000088.4(COL1A1):c.1289A>T (p.Lys430Met)
|
|
|
NM_000088.4(COL1A1):c.1290G>A (p.Lys430=)
|
|
|
NM_000088.4(COL1A1):c.1296C>G (p.Asn432Lys)
|
rs2144575369
|
|
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.1353T>C (p.Pro451=)
|
|
|
NM_000088.4(COL1A1):c.1354-13C>A
|
rs372034810
|
|
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr)
|
rs751299130
|
|
NM_000088.4(COL1A1):c.1378C>T (p.Pro460Ser)
|
rs945417737
|
|
NM_000088.4(COL1A1):c.1387G>A (p.Ala463Thr)
|
rs1555573895
|
|
NM_000088.4(COL1A1):c.1406G>A (p.Arg469Gln)
|
|
|
NM_000088.4(COL1A1):c.1424C>A (p.Pro475His)
|
|
|
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.143A>T (p.His48Leu)
|
|
|
NM_000088.4(COL1A1):c.1456G>A (p.Glu486Lys)
|
rs1171968124
|
|
NM_000088.4(COL1A1):c.1460G>A (p.Arg487His)
|
rs2144572836
|
|
NM_000088.4(COL1A1):c.1461+2dup
|
|
|
NM_000088.4(COL1A1):c.1461+5G>A
|
|
|
NM_000088.4(COL1A1):c.1462-3C>A
|
rs2144572314
|
|
NM_000088.4(COL1A1):c.1478G>A (p.Arg493His)
|
|
|
NM_000088.4(COL1A1):c.1487C>T (p.Pro496Leu)
|
|
|
NM_000088.4(COL1A1):c.1511C>T (p.Pro504Leu)
|
|
|
NM_000088.4(COL1A1):c.1516-5A>G
|
|
|
NM_000088.4(COL1A1):c.1531C>T (p.Arg511Cys)
|
rs1478682303
|
|
NM_000088.4(COL1A1):c.1532G>T (p.Arg511Leu)
|
|
|
NM_000088.4(COL1A1):c.1550C>G (p.Ala517Gly)
|
|
|
NM_000088.4(COL1A1):c.1550C>T (p.Ala517Val)
|
rs1907378945
|
|
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=)
|
rs762086114
|
|
NM_000088.4(COL1A1):c.1556C>A (p.Pro519His)
|
|
|
NM_000088.4(COL1A1):c.1559A>G (p.Lys520Arg)
|
rs2144571197
|
|
NM_000088.4(COL1A1):c.1567_1569del (p.Pro523del)
|
rs1907377085
|
|
NM_000088.4(COL1A1):c.1582C>A (p.Arg528Ser)
|
|
|
NM_000088.4(COL1A1):c.1614G>C (p.Lys538Asn)
|
rs770596593
|
|
NM_000088.4(COL1A1):c.1615-3T>C
|
|
|
NM_000088.4(COL1A1):c.1667C>T (p.Pro556Leu)
|
rs778151591
|
|
NM_000088.4(COL1A1):c.1685A>G (p.Asp562Gly)
|
|
|
NM_000088.4(COL1A1):c.169C>T (p.Pro57Ser)
|
|
|
NM_000088.4(COL1A1):c.1728G>A (p.Gln576=)
|
rs1410003274
|
|
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.1767+3_1767+6del
|
rs886042301
|
|
NM_000088.4(COL1A1):c.176G>C (p.Arg59Pro)
|
rs2144594400
|
|
NM_000088.4(COL1A1):c.178A>C (p.Ile60Leu)
|
|
|
NM_000088.4(COL1A1):c.179TCTGCG[3] (p.Cys63_Asp64insValCys)
|
|
|
NM_000088.4(COL1A1):c.1810C>G (p.Pro604Ala)
|
rs868525869
|
|
NM_000088.4(COL1A1):c.1811C>T (p.Pro604Leu)
|
|
|
NM_000088.4(COL1A1):c.1821C>G (p.Val607=)
|
rs41316667
|
|
NM_000088.4(COL1A1):c.1828G>T (p.Ala610Ser)
|
|
|
NM_000088.4(COL1A1):c.1897G>A (p.Glu633Lys)
|
rs2144563826
|
|
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.1945G>A (p.Ala649Thr)
|
rs2144563154
|
|
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.1983+2dup
|
|
|
NM_000088.4(COL1A1):c.1984-1G>T
|
rs2144561474
|
|
NM_000088.4(COL1A1):c.1984-6C>G
|
rs373873548
|
|
NM_000088.4(COL1A1):c.2018C>A (p.Ser673Tyr)
|
rs1263860713
|
|
NM_000088.4(COL1A1):c.2028+3_2028+20del
|
rs2144561189
|
|
NM_000088.4(COL1A1):c.2050G>A (p.Glu684Lys)
|
|
|
NM_000088.4(COL1A1):c.2087C>T (p.Pro696Leu)
|
|
|
NM_000088.4(COL1A1):c.2107C>G (p.Pro703Ala)
|
rs1339321096
|
|
NM_000088.4(COL1A1):c.2127+3G>A
|
|
|
NM_000088.4(COL1A1):c.2127G>A (p.Lys709=)
|
rs2144559989
|
|
NM_000088.4(COL1A1):c.2128-15T>C
|
|
|
NM_000088.4(COL1A1):c.2140G>A (p.Ala714Thr)
|
|
|
NM_000088.4(COL1A1):c.2159G>A (p.Ser720Asn)
|
|
|
NM_000088.4(COL1A1):c.2159G>T (p.Ser720Ile)
|
|
|
NM_000088.4(COL1A1):c.2167G>T (p.Ala723Ser)
|
|
|
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val)
|
rs561374961
|
|
NM_000088.4(COL1A1):c.2180A>G (p.Gln727Arg)
|
|
|
NM_000088.4(COL1A1):c.2185A>G (p.Met729Val)
|
|
|
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.2235+5G>T
|
rs1907061034
|
|
NM_000088.4(COL1A1):c.2236-3T>C
|
|
|
NM_000088.4(COL1A1):c.2249C>G (p.Pro750Arg)
|
|
|
NM_000088.4(COL1A1):c.224G>T (p.Cys75Phe)
|
|
|
NM_000088.4(COL1A1):c.2258C>T (p.Ala753Val)
|
|
|
NM_000088.4(COL1A1):c.228C>G (p.Asp76Glu)
|
rs1314366641
|
|
NM_000088.4(COL1A1):c.22C>G (p.Arg8Gly)
|
|
|
NM_000088.4(COL1A1):c.22C>T (p.Arg8Trp)
|
|
|
NM_000088.4(COL1A1):c.2305A>T (p.Ile769Phe)
|
rs2144556397
|
|
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala)
|
rs1423591325
|
|
NM_000088.4(COL1A1):c.2321C>T (p.Pro774Leu)
|
|
|
NM_000088.4(COL1A1):c.2344-3C>A
|
|
|
NM_000088.4(COL1A1):c.2386C>T (p.Arg796Cys)
|
rs751890158
|
|
NM_000088.4(COL1A1):c.2396C>T (p.Pro799Leu)
|
|
|
NM_000088.4(COL1A1):c.2422C>A (p.Pro808Thr)
|
rs1215940390
|
|
NM_000088.4(COL1A1):c.2428C>T (p.Pro810Ser)
|
rs1555572744
|
|
NM_000088.4(COL1A1):c.2449C>A (p.Pro817Thr)
|
rs769167761
|
|
NM_000088.4(COL1A1):c.2449C>T (p.Pro817Ser)
|
|
|
NM_000088.4(COL1A1):c.2451+6T>A
|
|
|
NM_000088.4(COL1A1):c.2468C>T (p.Pro823Leu)
|
|
|
NM_000088.4(COL1A1):c.2482G>A (p.Glu828Lys)
|
|
|
NM_000088.4(COL1A1):c.2491G>A (p.Asp831Asn)
|
|
|
NM_000088.4(COL1A1):c.2501C>T (p.Ala834Val)
|
|
|
NM_000088.4(COL1A1):c.2512G>T (p.Ala838Ser)
|
|
|
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly)
|
rs775095655
|
|
NM_000088.4(COL1A1):c.2537C>T (p.Pro846Leu)
|
|
|
NM_000088.4(COL1A1):c.2539G>T (p.Ala847Ser)
|
rs369455732
|
|
NM_000088.4(COL1A1):c.254_255insGGC (p.Glu85_Val86insAla)
|
|
|
NM_000088.4(COL1A1):c.2558T>C (p.Ile853Thr)
|
rs2144552753
|
|
NM_000088.4(COL1A1):c.2559+5G>A
|
rs72653138
|
|
NM_000088.4(COL1A1):c.2559T>A (p.Ile853=)
|
rs764910205
|
|
NM_000088.4(COL1A1):c.2560-19_2560-18delinsTG
|
|
|
NM_000088.4(COL1A1):c.2560-5T>C
|
rs2144552369
|
|
NM_000088.4(COL1A1):c.2573C>G (p.Ala858Gly)
|
rs550053089
|
|
NM_000088.4(COL1A1):c.260C>T (p.Pro87Leu)
|
rs926503489
|
|
NM_000088.4(COL1A1):c.2629C>T (p.Pro877Ser)
|
rs2144551585
|
|
NM_000088.4(COL1A1):c.2643C>G (p.Gly881=)
|
rs1414204760
|
|
NM_000088.4(COL1A1):c.2667+5G>A
|
|
|
NM_000088.4(COL1A1):c.2669G>C (p.Gly890Ala)
|
|
|
NM_000088.4(COL1A1):c.2680C>T (p.Pro894Ser)
|
|
|
NM_000088.4(COL1A1):c.272G>A (p.Cys91Tyr)
|
|
|
NM_000088.4(COL1A1):c.2746G>C (p.Ala916Pro)
|
|
|
NM_000088.4(COL1A1):c.2773C>T (p.Pro925Ser)
|
rs772929903
|
|
NM_000088.4(COL1A1):c.278C>G (p.Pro93Arg)
|
|
|
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.2829+2dup
|
rs2144549833
|
|
NM_000088.4(COL1A1):c.2845C>G (p.Pro949Ala)
|
|
|
NM_000088.4(COL1A1):c.2855A>G (p.Gln952Arg)
|
|
|
NM_000088.4(COL1A1):c.2906A>G (p.Glu969Gly)
|
|
|
NM_000088.4(COL1A1):c.290A>G (p.Asp97Gly)
|
rs758351823
|
|
NM_000088.4(COL1A1):c.2917C>T (p.Pro973Ser)
|
|
|
NM_000088.4(COL1A1):c.2933C>T (p.Pro978Leu)
|
rs2144548775
|
|
NM_000088.4(COL1A1):c.2953C>A (p.Gln985Lys)
|
|
|
NM_000088.4(COL1A1):c.2980C>T (p.Arg994Cys)
|
|
|
NM_000088.4(COL1A1):c.2989C>T (p.Pro997Ser)
|
|
|
NM_000088.4(COL1A1):c.299-23_299-2del
|
rs2144592610
|
|
NM_000088.4(COL1A1):c.299-3T>G
|
rs1598301620
|
|
NM_000088.4(COL1A1):c.299-4C>A
|
|
|
NM_000088.4(COL1A1):c.29T>C (p.Leu10Pro)
|
|
|
NM_000088.4(COL1A1):c.3003C>A (p.Gly1001=)
|
rs747313038
|
|
NM_000088.4(COL1A1):c.3023C>G (p.Pro1008Arg)
|
rs1484351533
|
|
NM_000088.4(COL1A1):c.3026C>T (p.Pro1009Leu)
|
|
|
NM_000088.4(COL1A1):c.3077G>A (p.Arg1026Gln)
|
|
|
NM_000088.4(COL1A1):c.3099+7T>G
|
rs201682029
|
|
NM_000088.4(COL1A1):c.3100-10T>A
|
rs1598288122
|
|
NM_000088.4(COL1A1):c.3100-6C>A
|
|
|
NM_000088.4(COL1A1):c.3107G>A (p.Arg1036His)
|
|
|
NM_000088.4(COL1A1):c.310G>A (p.Asp104Asn)
|
|
|
NM_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu)
|
rs1906769403
|
|
NM_000088.4(COL1A1):c.3152C>T (p.Pro1051Leu)
|
rs2144545694
|
|
NM_000088.4(COL1A1):c.3161C>T (p.Pro1054Leu)
|
|
|
NM_000088.4(COL1A1):c.3183C>T (p.Gly1061=)
|
rs1598287862
|
|
NM_000088.4(COL1A1):c.319ACC[1] (p.Thr108del)
|
|
|
NM_000088.4(COL1A1):c.3207+3A>G
|
rs1906755287
|
|
NM_000088.4(COL1A1):c.3207+4A>T
|
rs2144545163
|
|
NM_000088.4(COL1A1):c.3223G>C (p.Ala1075Pro)
|
|
|
NM_000088.4(COL1A1):c.3223G>T (p.Ala1075Ser)
|
|
|
NM_000088.4(COL1A1):c.3233T>A (p.Val1078Asp)
|
|
|
NM_000088.4(COL1A1):c.3238C>T (p.Pro1080Ser)
|
|
|
NM_000088.4(COL1A1):c.3238_3246dup (p.Gly1082_Ala1083insProValGly)
|
|
|
NM_000088.4(COL1A1):c.3250C>T (p.Arg1084Cys)
|
|
|
NM_000088.4(COL1A1):c.3251G>T (p.Arg1084Leu)
|
|
|
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+2dup
|
rs1598287275
|
|
NM_000088.4(COL1A1):c.3261C>T (p.Ala1087=)
|
|
|
NM_000088.4(COL1A1):c.3269A>C (p.Gln1090Pro)
|
rs1906705094
|
|
NM_000088.4(COL1A1):c.3275C>T (p.Pro1092Leu)
|
|
|
NM_000088.4(COL1A1):c.3301G>A (p.Glu1101Lys)
|
|
|
NM_000088.4(COL1A1):c.3313A>G (p.Arg1105Gly)
|
rs1555572101
|
|
NM_000088.4(COL1A1):c.3319A>T (p.Ile1107Leu)
|
|
|
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.3365C>G (p.Pro1122Arg)
|
|
|
NM_000088.4(COL1A1):c.3369+4A>G
|
rs2144542173
|
|
NM_000088.4(COL1A1):c.3369+4_3369+7del
|
|
|
NM_000088.4(COL1A1):c.3370-12_3370-11insAG
|
|
|
NM_000088.4(COL1A1):c.3419C>T (p.Pro1140Leu)
|
rs2144540571
|
|
NM_000088.4(COL1A1):c.3424-6C>G
|
rs370865189
|
|
NM_000088.4(COL1A1):c.3445G>T (p.Ala1149Ser)
|
|
|
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.347A>G (p.Asp116Gly)
|
rs1907874708
|
|
NM_000088.4(COL1A1):c.3481C>A (p.Pro1161Thr)
|
|
|
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.3508C>T (p.Arg1170Cys)
|
rs1373318649
|
|
NM_000088.4(COL1A1):c.3531+3A>T
|
rs1906604888
|
|
NM_000088.4(COL1A1):c.3531+6T>C
|
|
|
NM_000088.4(COL1A1):c.3545C>A (p.Pro1182His)
|
|
|
NM_000088.4(COL1A1):c.3566C>A (p.Pro1189His)
|
rs1555571859
|
|
NM_000088.4(COL1A1):c.3578G>A (p.Ser1193Asn)
|
rs1567753025
|
|
NM_000088.4(COL1A1):c.35T>C (p.Leu12Pro)
|
rs1555575857
|
|
NM_000088.4(COL1A1):c.3610C>A (p.Pro1204Thr)
|
rs983970706
|
|
NM_000088.4(COL1A1):c.3640C>T (p.Arg1214Cys)
|
rs2144537191
|
|
NM_000088.4(COL1A1):c.3649C>T (p.Arg1217Trp)
|
rs763727068
|
|
NM_000088.4(COL1A1):c.3650G>C (p.Arg1217Pro)
|
rs762805085
|
|
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.3679C>T (p.Arg1227Cys)
|
|
|
NM_000088.4(COL1A1):c.367A>G (p.Arg123Gly)
|
rs1907872277
|
|
NM_000088.4(COL1A1):c.3701C>T (p.Thr1234Ile)
|
|
|
NM_000088.4(COL1A1):c.3754C>A (p.Arg1252Ser)
|
rs781614679
|
|
NM_000088.4(COL1A1):c.3755G>T (p.Arg1252Leu)
|
|
|
NM_000088.4(COL1A1):c.3766G>T (p.Ala1256Ser)
|
|
|
NM_000088.4(COL1A1):c.3770G>A (p.Arg1257His)
|
|
|
NM_000088.4(COL1A1):c.3798C>G (p.His1266Gln)
|
|
|
NM_000088.4(COL1A1):c.3802G>A (p.Asp1268Asn)
|
rs1598285285
|
|
NM_000088.4(COL1A1):c.3812G>T (p.Ser1271Ile)
|
|
|
NM_000088.4(COL1A1):c.3815G>A (p.Gly1272Glu)
|
|
|
NM_000088.4(COL1A1):c.3832C>T (p.Pro1278Ser)
|
|
|
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)
|
rs761672800
|
|
NM_000088.4(COL1A1):c.3878T>C (p.Met1293Thr)
|
|
|
NM_000088.4(COL1A1):c.3883A>T (p.Thr1295Ser)
|
|
|
NM_000088.4(COL1A1):c.3887G>T (p.Gly1296Val)
|
rs1906529531
|
|
NM_000088.4(COL1A1):c.3895T>A (p.Cys1299Ser)
|
rs1567752383
|
|
NM_000088.4(COL1A1):c.3898G>A (p.Val1300Met)
|
|
|
NM_000088.4(COL1A1):c.3917G>C (p.Ser1306Thr)
|
rs754753032
|
|
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.3988A>G (p.Met1330Val)
|
|
|
NM_000088.4(COL1A1):c.4005+4C>T
|
rs528349466
|
|
NM_000088.4(COL1A1):c.4006-9C>T
|
rs193922156
|
|
NM_000088.4(COL1A1):c.4030G>C (p.Asp1344His)
|
rs371547661
|
|
NM_000088.4(COL1A1):c.4046C>A (p.Ala1349Asp)
|
|
|
NM_000088.4(COL1A1):c.404C>G (p.Pro135Arg)
|
rs2144591229
|
|
NM_000088.4(COL1A1):c.4050C>G (p.Ile1350Met)
|
|
|
NM_000088.4(COL1A1):c.4054C>G (p.Leu1352Val)
|
rs1906478020
|
|
NM_000088.4(COL1A1):c.4058C>T (p.Thr1353Ile)
|
|
|
NM_000088.4(COL1A1):c.4061T>G (p.Phe1354Cys)
|
|
|
NM_000088.4(COL1A1):c.4066C>A (p.Arg1356Ser)
|
rs1341595487
|
|
NM_000088.4(COL1A1):c.4081G>A (p.Glu1361Lys)
|
rs141011435
|
|
NM_000088.4(COL1A1):c.4092G>A (p.Gln1364=)
|
rs886053160
|
|
NM_000088.4(COL1A1):c.4140G>C (p.Gln1380His)
|
rs886053159
|
|
NM_000088.4(COL1A1):c.4148A>G (p.Asn1383Ser)
|
rs1555571631
|
|
NM_000088.4(COL1A1):c.4159G>A (p.Ala1387Thr)
|
rs1598284183
|
|
NM_000088.4(COL1A1):c.4177T>A (p.Ser1393Thr)
|
|
|
NM_000088.4(COL1A1):c.4178C>T (p.Ser1393Phe)
|
rs774210351
|
|
NM_000088.4(COL1A1):c.4191G>T (p.Glu1397Asp)
|
|
|
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.4239T>A (p.Asp1413Glu)
|
rs754555549
|
|
NM_000088.4(COL1A1):c.4241G>T (p.Gly1414Val)
|
|
|
NM_000088.4(COL1A1):c.4247C>T (p.Thr1416Met)
|
rs1906450804
|
|
NM_000088.4(COL1A1):c.4248+3G>A
|
|
|
NM_000088.4(COL1A1):c.4248+6T>C
|
|
|
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.429CCCCGGACC[1] (p.143PPG[3])
|
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.4323T>A (p.Asp1441Glu)
|
|
|
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val)
|
rs1131692326
|
|
NM_000088.4(COL1A1):c.432_458del (p.143PPG[1])
|
rs2144590892
|
|
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.4356_4359dup (p.Phe1454fs)
|
|
|
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>G (p.Pro146Ala)
|
rs756846639
|
|
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.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.454C>A (p.Pro152Thr)
|
rs1221734311
|
|
NM_000088.4(COL1A1):c.457C>T (p.Pro153Ser)
|
|
|
NM_000088.4(COL1A1):c.466G>A (p.Gly156Arg)
|
|
|
NM_000088.4(COL1A1):c.488T>C (p.Leu163Pro)
|
|
|
NM_000088.4(COL1A1):c.504T>A (p.Asp168Glu)
|
|
|
NM_000088.4(COL1A1):c.517G>A (p.Gly173Arg)
|
|
|
NM_000088.4(COL1A1):c.521G>A (p.Gly174Glu)
|
|
|
NM_000088.4(COL1A1):c.530T>C (p.Val177Ala)
|
|
|
NM_000088.4(COL1A1):c.543+15G>A
|
|
|
NM_000088.4(COL1A1):c.543+4A>G
|
rs1555574855
|
|
NM_000088.4(COL1A1):c.543+5G>C
|
rs1907787005
|
|
NM_000088.4(COL1A1):c.551C>T (p.Ser184Phe)
|
|
|
NM_000088.4(COL1A1):c.557C>T (p.Pro186Leu)
|
rs1555574809
|
|
NM_000088.4(COL1A1):c.577C>G (p.Pro193Ala)
|
rs2144587738
|
|
NM_000088.4(COL1A1):c.588+1G>A
|
rs72667025
|
|
NM_000088.4(COL1A1):c.588+5G>C
|
|
|
NM_000088.4(COL1A1):c.588+7A>T
|
|
|
NM_000088.4(COL1A1):c.650T>C (p.Met217Thr)
|
rs2144586081
|
|
NM_000088.4(COL1A1):c.656C>G (p.Pro219Arg)
|
|
|
NM_000088.4(COL1A1):c.668C>G (p.Pro223Arg)
|
rs2144585941
|
|
NM_000088.4(COL1A1):c.694G>C (p.Asp232His)
|
|
|
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.73G>A (p.Glu25Lys)
|
|
|
NM_000088.4(COL1A1):c.76G>A (p.Gly26Ser)
|
rs2144600278
|
|
NM_000088.4(COL1A1):c.78C>T (p.Gly26=)
|
rs2144600259
|
|
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+15C>T
|
rs779096006
|
|
NM_000088.4(COL1A1):c.974A>G (p.Asp325Gly)
|
rs2144579945
|
|
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.9C>G (p.Ser3Arg)
|
|
|