NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)
|
rs2734272
|
0.99956
|
NM_000088.4(COL1A1):c.4249-12G>A
|
rs2249492
|
0.52233
|
NM_000088.4(COL1A1):c.*744C>T
|
rs1061947
|
0.15959
|
NM_000088.4(COL1A1):c.1930-14T>C
|
rs2696247
|
0.13425
|
NM_000088.4(COL1A1):c.*1011T>C
|
rs1061970
|
0.12435
|
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.298+7C>A
|
rs41317345
|
0.01333
|
NM_000088.4(COL1A1):c.2175C>T (p.Gly725=)
|
rs35017779
|
0.01114
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
NM_000088.4(COL1A1):c.*1165C>G
|
rs149419718
|
0.00794
|
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)
|
rs148275339
|
0.00788
|
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)
|
rs41316667
|
0.00750
|
NM_000088.4(COL1A1):c.*1175T>G
|
rs75713851
|
0.00595
|
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.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.2452-23del
|
rs146899953
|
0.00427
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
|
rs1800219
|
0.00281
|
NM_000088.4(COL1A1):c.*1088G>A
|
rs191326459
|
0.00264
|
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.999C>T (p.Pro333=)
|
rs62637627
|
0.00222
|
NM_000088.4(COL1A1):c.*548C>A
|
rs557681960
|
0.00220
|
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.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
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.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.3102T>C (p.Gly1034=)
|
rs147743501
|
0.00044
|
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.2716G>A (p.Gly906Ser)
|
rs145446512
|
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.1983+9G>C
|
rs201091992
|
0.00029
|
NM_000088.4(COL1A1):c.*836C>T
|
rs527358320
|
0.00028
|
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.1691G>A (p.Arg564His)
|
rs1800211
|
0.00021
|
NM_000088.4(COL1A1):c.957+10C>A
|
rs376179885
|
0.00020
|
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=)
|
rs149301001
|
0.00019
|
NM_000088.4(COL1A1):c.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.3233T>C (p.Val1078Ala)
|
rs767525556
|
0.00013
|
NM_000088.4(COL1A1):c.627C>T (p.Gly209=)
|
rs201136122
|
0.00013
|
NM_000088.4(COL1A1):c.144T>A (p.His48Gln)
|
rs374065372
|
0.00011
|
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His)
|
rs193922150
|
0.00011
|
NM_000088.4(COL1A1):c.2613+13C>T
|
rs368380161
|
0.00011
|
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp)
|
rs151171179
|
0.00011
|
NM_000088.4(COL1A1):c.*502C>T
|
rs1004356084
|
0.00010
|
NM_000088.4(COL1A1):c.*342C>A
|
rs1253268385
|
0.00009
|
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile)
|
rs138557594
|
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.*21G>C
|
rs201085309
|
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.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.*285C>A
|
rs990020766
|
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.401T>A (p.Ile134Asn)
|
rs771647906
|
0.00004
|
NM_000088.4(COL1A1):c.408A>G (p.Gly136=)
|
rs533127847
|
0.00004
|
NM_000088.4(COL1A1):c.*1265C>T
|
rs567249120
|
0.00003
|
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.1888G>A (p.Glu630Lys)
|
rs775106436
|
0.00003
|
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys)
|
rs753683126
|
0.00003
|
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=)
|
rs756297543
|
0.00003
|
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.1675G>A (p.Ala559Thr)
|
rs558173513
|
0.00002
|
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser)
|
rs756337302
|
0.00002
|
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=)
|
rs757759451
|
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.1492G>A (p.Ala498Thr)
|
rs1051473344
|
0.00001
|
NM_000088.4(COL1A1):c.1669-10C>A
|
rs886053162
|
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.2796C>T (p.Gly932=)
|
rs746453576
|
0.00001
|
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=)
|
rs372044347
|
0.00001
|
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter)
|
rs72656314
|
0.00001
|
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=)
|
rs370529603
|
0.00001
|
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys)
|
rs746671446
|
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.4276G>A (p.Val1426Met)
|
rs763025405
|
0.00001
|
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile)
|
rs367952133
|
0.00001
|
NM_000088.4(COL1A1):c.979G>T (p.Ala327Ser)
|
rs769106952
|
0.00001
|
NC_000017.11:g.(?_50193945)_(50201396_?)del
|
|
|
NC_000017.11:g.50198206del
|
rs1907770102
|
|
NM_000088.4(COL1A1):c.*1027G>T
|
rs200882287
|
|
NM_000088.4(COL1A1):c.*1316C>G
|
rs967567610
|
|
NM_000088.4(COL1A1):c.*1324A>G
|
rs886053140
|
|
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.*88T>A
|
rs1061237
|
|
NM_000088.4(COL1A1):c.*88T>C
|
rs1061237
|
|
NM_000088.4(COL1A1):c.-98G>A
|
rs574683904
|
|
NM_000088.4(COL1A1):c.-98G>C
|
rs574683904
|
|
NM_000088.4(COL1A1):c.1001del (p.Pro334fs)
|
rs150572711
|
|
NM_000088.4(COL1A1):c.1002+5G>T
|
rs1907566530
|
|
NM_000088.4(COL1A1):c.1021G>T (p.Gly341Cys)
|
rs193922137
|
|
NM_000088.4(COL1A1):c.1057-2A>T
|
rs66511271
|
|
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)
|
rs72645366
|
|
NM_000088.4(COL1A1):c.1102G>T (p.Gly368Cys)
|
rs72645367
|
|
NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala)
|
rs1555574151
|
|
NM_000088.4(COL1A1):c.1112G>C (p.Gly371Ala)
|
rs1907512918
|
|
NM_000088.4(COL1A1):c.1155+1G>C
|
rs72648315
|
|
NM_000088.4(COL1A1):c.1156G>A (p.Gly386Arg)
|
|
|
NM_000088.4(COL1A1):c.1200+1G>A
|
rs72648320
|
|
NM_000088.4(COL1A1):c.1201-1G>A
|
rs72648321
|
|
NM_000088.4(COL1A1):c.120C>A (p.Cys40Ter)
|
rs762780039
|
|
NM_000088.4(COL1A1):c.1235C>G (p.Pro412Arg)
|
rs193922138
|
|
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.1281del (p.Gly428fs)
|
rs1907477506
|
|
NM_000088.4(COL1A1):c.1296C>G (p.Asn432Lys)
|
rs2144575369
|
|
NM_000088.4(COL1A1):c.1299+5G>A
|
rs193922139
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1426G>A (p.Gly476Arg)
|
|
|
NM_000088.4(COL1A1):c.1492del (p.Ala498fs)
|
rs1598295794
|
|
NM_000088.4(COL1A1):c.1516-1G>C
|
rs72648352
|
|
NM_000088.4(COL1A1):c.1544G>C (p.Gly515Ala)
|
rs193922140
|
|
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=)
|
rs762086114
|
|
NM_000088.4(COL1A1):c.1608_1609del (p.Ala537fs)
|
rs2144570980
|
|
NM_000088.4(COL1A1):c.1614+1G>T
|
rs72648357
|
|
NM_000088.4(COL1A1):c.162_168dup (p.Pro57fs)
|
|
|
NM_000088.4(COL1A1):c.1646del (p.Pro549fs)
|
rs1907351704
|
|
NM_000088.4(COL1A1):c.1657del (p.Thr553fs)
|
rs193922141
|
|
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)
|
rs67507747
|
|
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser)
|
rs1907330109
|
|
NM_000088.4(COL1A1):c.1745del (p.Phe582fs)
|
rs2144569160
|
|
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter)
|
rs72651614
|
|
NM_000088.4(COL1A1):c.1812del (p.Gly605fs)
|
rs193922143
|
|
NM_000088.4(COL1A1):c.1821+1G>A
|
rs66555264
|
|
NM_000088.4(COL1A1):c.1821+1G>C
|
rs66555264
|
|
NM_000088.4(COL1A1):c.1843G>T (p.Glu615Ter)
|
rs1598293920
|
|
NM_000088.4(COL1A1):c.1862_1865del (p.Pro621fs)
|
rs72651620
|
|
NM_000088.4(COL1A1):c.1910C>G (p.Ala637Gly)
|
rs886053161
|
|
NM_000088.4(COL1A1):c.1948G>C (p.Gly650Arg)
|
rs72651626
|
|
NM_000088.4(COL1A1):c.1983+9G>T
|
rs201091992
|
|
NM_000088.4(COL1A1):c.1984-1G>T
|
rs2144561474
|
|
NM_000088.4(COL1A1):c.1984-2A>C
|
rs72651632
|
|
NM_000088.4(COL1A1):c.1984-6C>G
|
rs373873548
|
|
NM_000088.4(COL1A1):c.2045del (p.Pro682fs)
|
rs2144560659
|
|
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter)
|
rs193922144
|
|
NM_000088.4(COL1A1):c.2074G>T (p.Gly692Cys)
|
rs1907108266
|
|
NM_000088.4(COL1A1):c.2097del (p.Asn700fs)
|
rs72651643
|
|
NM_000088.4(COL1A1):c.2102del (p.Gly701fs)
|
rs1907103040
|
|
NM_000088.4(COL1A1):c.2127G>A (p.Lys709=)
|
rs2144559989
|
|
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter)
|
rs193922145
|
|
NM_000088.4(COL1A1):c.2164G>A (p.Gly722Ser)
|
rs72651647
|
|
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val)
|
rs561374961
|
|
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala)
|
rs1423591325
|
|
NM_000088.4(COL1A1):c.2397dup (p.Gly800fs)
|
rs1906989648
|
|
NM_000088.4(COL1A1):c.2398-1G>C
|
rs193922147
|
|
NM_000088.4(COL1A1):c.2418del (p.Gly809fs)
|
rs193922148
|
|
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser)
|
rs886042260
|
|
NM_000088.4(COL1A1):c.2450del (p.Pro817fs)
|
rs193922149
|
|
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser)
|
rs1598290382
|
|
NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp)
|
rs1906940342
|
|
NM_000088.4(COL1A1):c.2507G>A (p.Gly836Asp)
|
rs72653130
|
|
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly)
|
rs775095655
|
|
NM_000088.4(COL1A1):c.2525dup (p.Ala844fs)
|
rs1114167392
|
|
NM_000088.4(COL1A1):c.2539G>T (p.Ala847Ser)
|
rs369455732
|
|
NM_000088.4(COL1A1):c.2560-1G>A
|
rs72653139
|
|
NM_000088.4(COL1A1):c.2560-5T>C
|
rs2144552369
|
|
NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys)
|
rs72653141
|
|
NM_000088.4(COL1A1):c.2579G>A (p.Gly860Glu)
|
rs72653142
|
|
NM_000088.4(COL1A1):c.2643C>G (p.Gly881=)
|
rs1414204760
|
|
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter)
|
rs72653147
|
|
NM_000088.4(COL1A1):c.2667+1G>C
|
rs72653150
|
|
NM_000088.4(COL1A1):c.2668-2A>G
|
rs2144550759
|
|
NM_000088.4(COL1A1):c.2685del (p.Gly896fs)
|
rs193922151
|
|
NM_000088.4(COL1A1):c.2758G>A (p.Gly920Ser)
|
rs2144550235
|
|
NM_000088.4(COL1A1):c.2830-1G>A
|
rs111594467
|
|
NM_000088.4(COL1A1):c.2831delG
|
rs2144549369
|
|
NM_000088.4(COL1A1):c.2897A>G (p.Gln966Arg)
|
rs193922152
|
|
NM_000088.4(COL1A1):c.2901_2902del (p.Gly968fs)
|
rs1555572406
|
|
NM_000088.4(COL1A1):c.2984G>C (p.Gly995Ala)
|
rs1598288656
|
|
NM_000088.4(COL1A1):c.299-23_299-2del
|
rs2144592610
|
|
NM_000088.4(COL1A1):c.2993G>C (p.Gly998Ala)
|
rs1598288634
|
|
NM_000088.4(COL1A1):c.299_300delAG
|
rs193922154
|
|
NM_000088.4(COL1A1):c.3003C>A (p.Gly1001=)
|
rs747313038
|
|
NM_000088.4(COL1A1):c.3008del (p.Pro1003fs)
|
rs72653168
|
|
NM_000088.4(COL1A1):c.3009del (p.Gly1004fs)
|
rs2144547648
|
|
NM_000088.4(COL1A1):c.3014T>A (p.Leu1005Ter)
|
rs2144547622
|
|
NM_000088.4(COL1A1):c.3046-20CT[10]
|
rs138425306
|
|
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.3099+1G>A
|
rs1555572316
|
|
NM_000088.4(COL1A1):c.3099+7T>G
|
rs201682029
|
|
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.3182G>C (p.Gly1061Ala)
|
rs72654797
|
|
NM_000088.4(COL1A1):c.3182G>T (p.Gly1061Val)
|
|
|
NM_000088.4(COL1A1):c.3209G>A (p.Gly1070Asp)
|
rs1275118660
|
|
NM_000088.4(COL1A1):c.3270del (p.Gly1091fs)
|
rs1555572125
|
|
NM_000088.4(COL1A1):c.3281G>C (p.Gly1094Ala)
|
rs2144542715
|
|
NM_000088.4(COL1A1):c.334-9A>G
|
rs1567764387
|
|
NM_000088.4(COL1A1):c.3370-1G>C
|
rs112042777
|
|
NM_000088.4(COL1A1):c.3421del (p.Arg1141fs)
|
rs1598286543
|
|
NM_000088.4(COL1A1):c.3425G>T (p.Gly1142Val)
|
rs1567753448
|
|
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)
|
rs67815019
|
|
NM_000088.4(COL1A1):c.3531+1G>A
|
rs72656326
|
|
NM_000088.4(COL1A1):c.370-2A>G
|
rs193922155
|
|
NM_000088.4(COL1A1):c.3825G>A (p.Trp1275Ter)
|
rs1555571766
|
|
NM_000088.4(COL1A1):c.3871T>G (p.Cys1291Gly)
|
rs2144534929
|
|
NM_000088.4(COL1A1):c.4003C>T (p.Gln1335Ter)
|
rs868166455
|
|
NM_000088.4(COL1A1):c.4006-9C>T
|
rs193922156
|
|
NM_000088.4(COL1A1):c.404C>G (p.Pro135Arg)
|
rs2144591229
|
|
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.4171C>T (p.Gln1391Ter)
|
rs2586486
|
|
NM_000088.4(COL1A1):c.4189G>T (p.Glu1397Ter)
|
rs902407269
|
|
NM_000088.4(COL1A1):c.4248+1G>A
|
rs111953130
|
|
NM_000088.4(COL1A1):c.4339del (p.Val1447fs)
|
rs1567751388
|
|
NM_000088.4(COL1A1):c.517G>T (p.Gly173Ter)
|
rs193922157
|
|
NM_000088.4(COL1A1):c.543+1G>C
|
rs2144588841
|
|
NM_000088.4(COL1A1):c.543+2T>C
|
rs2144588834
|
|
NM_000088.4(COL1A1):c.579del (p.Gly194fs)
|
rs72667023
|
|
NM_000088.4(COL1A1):c.580G>C (p.Gly194Arg)
|
rs72667024
|
|
NM_000088.4(COL1A1):c.588+1G>A
|
rs72667025
|
|
NM_000088.4(COL1A1):c.608G>C (p.Gly203Ala)
|
|
|
NM_000088.4(COL1A1):c.617G>T (p.Gly206Val)
|
rs1598300054
|
|
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)
|
rs72667036
|
|
NM_000088.4(COL1A1):c.957+15C>T
|
rs779096006
|
|
NM_000088.4(COL1A1):c.958-1G>C
|
rs72645352
|
|
NM_000088.4(COL1A1):c.977dup (p.Ala327fs)
|
rs2144579919
|
|
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.994_1001del (p.Gly332fs)
|
rs2144579745
|
|