NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)
|
rs1800211
|
0.00021
|
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His)
|
rs193922150
|
0.00011
|
NM_000088.4(COL1A1):c.4321G>A (p.Asp1441Asn)
|
rs72656351
|
0.00003
|
NM_000088.4(COL1A1):c.3469G>A (p.Gly1157Ser)
|
rs1278821174
|
0.00001
|
NM_000088.4(COL1A1):c.3865G>C (p.Val1289Leu)
|
rs780472683
|
0.00001
|
NC_000017.10:g.(?_48262863)_(48277328_?)dup
|
|
|
NC_000017.10:g.(?_48271690)_(48277328_?)dup
|
|
|
NC_000017.11:g.(?_50198141)_(50198524_?)del
|
|
|
NM_000088.3(COL1A1):c.[1601T>A];[1608_1614+25del]
|
|
|
NM_000088.4(COL1A1):c.1002+5G>T
|
rs1907566530
|
|
NM_000088.4(COL1A1):c.1004G>A (p.Gly335Asp)
|
rs1907549643
|
|
NM_000088.4(COL1A1):c.1004G>T (p.Gly335Val)
|
|
|
NM_000088.4(COL1A1):c.1011_1019del (p.Ala340_Pro342del)
|
|
|
NM_000088.4(COL1A1):c.1013G>T (p.Gly338Val)
|
rs1555574249
|
|
NM_000088.4(COL1A1):c.1021G>T (p.Gly341Cys)
|
rs193922137
|
|
NM_000088.4(COL1A1):c.103+5G>A
|
rs1555575835
|
|
NM_000088.4(COL1A1):c.103+5G>C
|
rs1555575835
|
|
NM_000088.4(COL1A1):c.104-2A>G
|
rs2144594870
|
|
NM_000088.4(COL1A1):c.1057-2A>T
|
rs66511271
|
|
NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser)
|
rs1907516553
|
|
NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val)
|
rs66494876
|
|
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.1177C>T (p.Gln393Ter)
|
rs2144576822
|
|
NM_000088.4(COL1A1):c.1200+1del
|
rs2144576696
|
|
NM_000088.4(COL1A1):c.1200+2dup
|
rs1555574113
|
|
NM_000088.4(COL1A1):c.1229G>C (p.Gly410Ala)
|
|
|
NM_000088.4(COL1A1):c.1235C>G (p.Pro412Arg)
|
rs193922138
|
|
NM_000088.4(COL1A1):c.1237G>C (p.Gly413Arg)
|
rs1567760604
|
|
NM_000088.4(COL1A1):c.1292G>T (p.Gly431Val)
|
rs72648332
|
|
NM_000088.4(COL1A1):c.1299+5G>A
|
rs193922139
|
|
NM_000088.4(COL1A1):c.1301G>C (p.Gly434Ala)
|
rs72648333
|
|
NM_000088.4(COL1A1):c.1354-1G>C
|
|
|
NM_000088.4(COL1A1):c.1354-6_1359del
|
|
|
NM_000088.4(COL1A1):c.1399G>A (p.Gly467Arg)
|
rs2144573313
|
|
NM_000088.4(COL1A1):c.1400G>A (p.Gly467Glu)
|
rs267604943
|
|
NM_000088.4(COL1A1):c.141C>G (p.Tyr47Ter)
|
|
|
NM_000088.4(COL1A1):c.1427G>T (p.Gly476Val)
|
|
|
NM_000088.4(COL1A1):c.1453G>A (p.Gly485Ser)
|
|
|
NM_000088.4(COL1A1):c.1461+2T>G
|
rs1907417140
|
|
NM_000088.4(COL1A1):c.1462G>A (p.Gly488Ser)
|
rs1328384458
|
|
NM_000088.4(COL1A1):c.1517G>A (p.Gly506Asp)
|
|
|
NM_000088.4(COL1A1):c.1544G>C (p.Gly515Ala)
|
rs193922140
|
|
NM_000088.4(COL1A1):c.1561G>T (p.Gly521Ter)
|
rs2144571189
|
|
NM_000088.4(COL1A1):c.1608_1609del (p.Ala537fs)
|
rs2144570980
|
|
NM_000088.4(COL1A1):c.1614+1G>T
|
rs72648357
|
|
NM_000088.4(COL1A1):c.1657del (p.Thr553fs)
|
rs193922141
|
|
NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg)
|
rs72648359
|
|
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser)
|
rs1907330109
|
|
NM_000088.4(COL1A1):c.1733G>A (p.Gly578Asp)
|
rs2144569208
|
|
NM_000088.4(COL1A1):c.1745del (p.Phe582fs)
|
rs2144569160
|
|
NM_000088.4(COL1A1):c.1787G>C (p.Gly596Ala)
|
|
|
NM_000088.4(COL1A1):c.1811del (p.Pro604fs)
|
|
|
NM_000088.4(COL1A1):c.1812del (p.Gly605fs)
|
rs193922143
|
|
NM_000088.4(COL1A1):c.1821+1del
|
|
|
NM_000088.4(COL1A1):c.1832G>A (p.Gly611Asp)
|
|
|
NM_000088.4(COL1A1):c.1862_1865del (p.Pro621fs)
|
rs72651620
|
|
NM_000088.4(COL1A1):c.1867G>A (p.Gly623Ser)
|
rs2144564489
|
|
NM_000088.4(COL1A1):c.1891_1895del (p.Glu630_Arg631insTer)
|
rs2144563843
|
|
NM_000088.4(COL1A1):c.1929+1_1929+6del
|
|
|
NM_000088.4(COL1A1):c.1948G>C (p.Gly650Arg)
|
rs72651626
|
|
NM_000088.4(COL1A1):c.2045del (p.Pro682fs)
|
rs2144560659
|
|
NM_000088.4(COL1A1):c.2048G>C (p.Gly683Ala)
|
rs1598292524
|
|
NM_000088.4(COL1A1):c.2056G>A (p.Gly686Ser)
|
rs1404470949
|
|
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter)
|
rs193922144
|
|
NM_000088.4(COL1A1):c.2074G>A (p.Gly692Ser)
|
rs1907108266
|
|
NM_000088.4(COL1A1):c.2074G>T (p.Gly692Cys)
|
rs1907108266
|
|
NM_000088.4(COL1A1):c.2097del (p.Asn700fs)
|
rs72651643
|
|
NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser)
|
rs68114505
|
|
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter)
|
rs193922145
|
|
NM_000088.4(COL1A1):c.2192G>A (p.Gly731Asp)
|
|
|
NM_000088.4(COL1A1):c.2197C>T (p.Arg733Cys)
|
rs1567757112
|
|
NM_000088.4(COL1A1):c.2291G>C (p.Gly764Ala)
|
rs72651657
|
|
NM_000088.4(COL1A1):c.2336G>T (p.Gly779Val)
|
rs2144556146
|
|
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.2450_2451insG (p.Gly818fs)
|
|
|
NM_000088.4(COL1A1):c.2450del (p.Pro817fs)
|
rs193922149
|
|
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser)
|
rs1598290382
|
|
NM_000088.4(COL1A1):c.2483_2485delinsG (p.Glu828fs)
|
|
|
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.2525dup (p.Ala844fs)
|
rs1114167392
|
|
NM_000088.4(COL1A1):c.2559+5G>T
|
|
|
NM_000088.4(COL1A1):c.2567_2569del (p.Val856del)
|
|
|
NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys)
|
rs72653141
|
|
NM_000088.4(COL1A1):c.2570G>A (p.Gly857Asp)
|
|
|
NM_000088.4(COL1A1):c.2579G>A (p.Gly860Glu)
|
rs72653142
|
|
NM_000088.4(COL1A1):c.2586del (p.Gly863fs)
|
rs1598289920
|
|
NM_000088.4(COL1A1):c.2633G>C (p.Gly878Ala)
|
rs2144551547
|
|
NM_000088.4(COL1A1):c.2667+1_2667+2del
|
rs2144551340
|
|
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.2781_2789dup (p.Pro930_Ala931insProGlyPro)
|
|
|
NM_000088.4(COL1A1):c.2783del (p.Pro928fs)
|
|
|
NM_000088.4(COL1A1):c.2821G>A (p.Gly941Ser)
|
|
|
NM_000088.4(COL1A1):c.2830-3A>G
|
rs1906853874
|
|
NM_000088.4(COL1A1):c.2858G>T (p.Gly953Val)
|
|
|
NM_000088.4(COL1A1):c.2866G>A (p.Gly956Arg)
|
rs797045033
|
|
NM_000088.4(COL1A1):c.2867G>C (p.Gly956Ala)
|
rs2144549155
|
|
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.2929G>A (p.Gly977Ser)
|
|
|
NM_000088.4(COL1A1):c.2938-1G>A
|
|
|
NM_000088.4(COL1A1):c.2947G>A (p.Gly983Ser)
|
rs2144548099
|
|
NM_000088.4(COL1A1):c.295_298+4dup
|
rs2144593648
|
|
NM_000088.4(COL1A1):c.2974G>A (p.Gly992Ser)
|
|
|
NM_000088.4(COL1A1):c.2984G>C (p.Gly995Ala)
|
rs1598288656
|
|
NM_000088.4(COL1A1):c.298G>T (p.Glu100Ter)
|
rs2144593675
|
|
NM_000088.4(COL1A1):c.2990dup (p.Gly998fs)
|
rs1598288648
|
|
NM_000088.4(COL1A1):c.2993G>C (p.Gly998Ala)
|
rs1598288634
|
|
NM_000088.4(COL1A1):c.299_300delAG
|
rs193922154
|
|
NM_000088.4(COL1A1):c.3001G>A (p.Gly1001Ser)
|
|
|
NM_000088.4(COL1A1):c.3009del (p.Gly1004fs)
|
rs2144547648
|
|
NM_000088.4(COL1A1):c.3028G>A (p.Gly1010Ser)
|
rs72653169
|
|
NM_000088.4(COL1A1):c.3119G>C (p.Gly1040Ala)
|
|
|
NM_000088.4(COL1A1):c.3128G>C (p.Gly1043Ala)
|
rs1906767501
|
|
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly)
|
rs74315111
|
|
NM_000088.4(COL1A1):c.316dup (p.Glu106fs)
|
|
|
NM_000088.4(COL1A1):c.3182G>C (p.Gly1061Ala)
|
rs72654797
|
|
NM_000088.4(COL1A1):c.3182G>T (p.Gly1061Val)
|
|
|
NM_000088.4(COL1A1):c.3207+1_3207+2del
|
rs1064796200
|
|
NM_000088.4(COL1A1):c.3208-56_3215del
|
|
|
NM_000088.4(COL1A1):c.3209G>A (p.Gly1070Asp)
|
rs1275118660
|
|
NM_000088.4(COL1A1):c.3245del (p.Gly1082fs)
|
rs1555572161
|
|
NM_000088.4(COL1A1):c.3261+1G>A
|
rs2144543339
|
|
NM_000088.4(COL1A1):c.3268C>T (p.Gln1090Ter)
|
rs2144542850
|
|
NM_000088.4(COL1A1):c.3281G>C (p.Gly1094Ala)
|
rs2144542715
|
|
NM_000088.4(COL1A1):c.3316G>T (p.Gly1106Cys)
|
rs2144542487
|
|
NM_000088.4(COL1A1):c.334-9A>G
|
rs1567764387
|
|
NM_000088.4(COL1A1):c.3347_3364del (p.Leu1116_Gly1121del)
|
rs2144542232
|
|
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs)
|
rs1260429820
|
|
NM_000088.4(COL1A1):c.3369+5G>C
|
rs1555572075
|
|
NM_000088.4(COL1A1):c.3389G>A (p.Gly1130Asp)
|
rs1567753699
|
|
NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu)
|
rs1906659084
|
|
NM_000088.4(COL1A1):c.3407G>C (p.Gly1136Ala)
|
rs1555572013
|
|
NM_000088.4(COL1A1):c.3425G>T (p.Gly1142Val)
|
rs1567753448
|
|
NM_000088.4(COL1A1):c.3434G>T (p.Gly1145Val)
|
|
|
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)
|
rs67815019
|
|
NM_000088.4(COL1A1):c.3531+1G>A
|
rs72656326
|
|
NM_000088.4(COL1A1):c.3552_3560del (p.1178GPP[4])
|
|
|
NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg)
|
rs1555575857
|
|
NM_000088.4(COL1A1):c.3656A>G (p.Asp1219Gly)
|
rs2144537008
|
|
NM_000088.4(COL1A1):c.3664A>G (p.Asn1222Asp)
|
|
|
NM_000088.4(COL1A1):c.370-2A>G
|
rs193922155
|
|
NM_000088.4(COL1A1):c.370-2A>T
|
|
|
NM_000088.4(COL1A1):c.3721del (p.Gln1241fs)
|
|
|
NM_000088.4(COL1A1):c.3769del (p.Arg1257fs)
|
rs1906559620
|
|
NM_000088.4(COL1A1):c.3821A>C (p.Tyr1274Ser)
|
rs1906537608
|
|
NM_000088.4(COL1A1):c.3825G>T (p.Trp1275Cys)
|
|
|
NM_000088.4(COL1A1):c.3871T>G (p.Cys1291Gly)
|
rs2144534929
|
|
NM_000088.4(COL1A1):c.3880dup (p.Glu1294fs)
|
|
|
NM_000088.4(COL1A1):c.3935G>A (p.Trp1312Ter)
|
rs886039880
|
|
NM_000088.4(COL1A1):c.3967C>T (p.His1323Tyr)
|
|
|
NM_000088.4(COL1A1):c.3975G>T (p.Trp1325Cys)
|
rs2144534276
|
|
NM_000088.4(COL1A1):c.3994del (p.Asp1332fs)
|
|
|
NM_000088.4(COL1A1):c.409C>T (p.Gln137Ter)
|
|
|
NM_000088.4(COL1A1):c.4103A>G (p.Tyr1368Cys)
|
|
|
NM_000088.4(COL1A1):c.4166T>C (p.Leu1389Pro)
|
rs2144531821
|
|
NM_000088.4(COL1A1):c.4183G>T (p.Glu1395Ter)
|
|
|
NM_000088.4(COL1A1):c.4193T>G (p.Ile1398Ser)
|
|
|
NM_000088.4(COL1A1):c.4201G>T (p.Glu1401Ter)
|
|
|
NM_000088.4(COL1A1):c.4237G>A (p.Asp1413Asn)
|
rs72656349
|
|
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val)
|
rs1131692326
|
|
NM_000088.4(COL1A1):c.4339del (p.Val1447fs)
|
rs1567751388
|
|
NM_000088.4(COL1A1):c.4342G>C (p.Gly1448Arg)
|
|
|
NM_000088.4(COL1A1):c.4343G>A (p.Gly1448Asp)
|
rs2144529623
|
|
NM_000088.4(COL1A1):c.4352_4356del (p.Asp1451fs)
|
|
|
NM_000088.4(COL1A1):c.517G>T (p.Gly173Ter)
|
rs193922157
|
|
NM_000088.4(COL1A1):c.543+2T>C
|
rs2144588834
|
|
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)
|
rs72667022
|
|
NM_000088.4(COL1A1):c.544-2del
|
rs2144587964
|
|
NM_000088.4(COL1A1):c.544G>T (p.Gly182Cys)
|
|
|
NM_000088.4(COL1A1):c.545G>T (p.Gly182Val)
|
|
|
NM_000088.4(COL1A1):c.572G>C (p.Gly191Ala)
|
rs67828806
|
|
NM_000088.4(COL1A1):c.572G>T (p.Gly191Val)
|
rs67828806
|
|
NM_000088.4(COL1A1):c.579del (p.Gly194fs)
|
rs72667023
|
|
NM_000088.4(COL1A1):c.590G>T (p.Gly197Val)
|
rs72667028
|
|
NM_000088.4(COL1A1):c.608G>A (p.Gly203Asp)
|
rs72667031
|
|
NM_000088.4(COL1A1):c.608G>C (p.Gly203Ala)
|
|
|
NM_000088.4(COL1A1):c.617G>T (p.Gly206Val)
|
rs1598300054
|
|
NM_000088.4(COL1A1):c.625G>A (p.Gly209Ser)
|
rs2144586877
|
|
NM_000088.4(COL1A1):c.626G>C (p.Gly209Ala)
|
rs1907746069
|
|
NM_000088.4(COL1A1):c.643-1G>A
|
rs2144586155
|
|
NM_000088.4(COL1A1):c.644G>T (p.Gly215Val)
|
rs1907723511
|
|
NM_000088.4(COL1A1):c.671G>T (p.Gly224Val)
|
rs1555574641
|
|
NM_000088.4(COL1A1):c.679G>A (p.Gly227Arg)
|
rs1567763007
|
|
NM_000088.4(COL1A1):c.680G>A (p.Gly227Glu)
|
rs2144585835
|
|
NM_000088.4(COL1A1):c.82_103+11del
|
rs2144600020
|
|
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)
|
rs72645347
|
|
NM_000088.4(COL1A1):c.958-1G>A
|
rs72645352
|
|
NM_000088.4(COL1A1):c.958-1G>C
|
rs72645352
|
|
NM_000088.4(COL1A1):c.958G>T (p.Gly320Cys)
|
rs2144580035
|
|
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg)
|
rs72645355
|
|
NM_000088.4(COL1A1):c.977dup (p.Ala327fs)
|
rs2144579919
|
|
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg)
|
rs1555574303
|
|
NM_000088.4(COL1A1):c.992C>T (p.Ala331Val)
|
rs762653813
|
|
NM_000088.4(COL1A1):c.994_1001del (p.Gly332fs)
|
rs2144579745
|
|