NM_000090.4(COL3A1):c.1509+2T>C
|
rs1553508039
|
0.00003
|
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)
|
rs755528878
|
0.00002
|
NM_000090.4(COL3A1):c.1204G>A (p.Gly402Ser)
|
rs1064797017
|
0.00001
|
NM_000090.4(COL3A1):c.2023-1G>T
|
rs587779708
|
0.00001
|
NM_000090.4(COL3A1):c.2264C>A (p.Pro755Gln)
|
rs1553508711
|
0.00001
|
NM_000090.4(COL3A1):c.2464G>A (p.Gly822Ser)
|
rs794728051
|
0.00001
|
NM_000090.4(COL3A1):c.2627G>C (p.Gly876Ala)
|
rs1158155272
|
0.00001
|
NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser)
|
rs794728054
|
0.00001
|
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser)
|
rs1223008559
|
0.00001
|
NM_000090.4(COL3A1):c.4254+3A>G
|
rs376799861
|
0.00001
|
NM_000090.4(COL3A1):c.852+2T>C
|
rs201314784
|
0.00001
|
NM_000090.4(COL3A1):c.862G>T (p.Gly288Cys)
|
rs1333066574
|
0.00001
|
NC_000002.11:g.(?_189852801)_(189855789_?)dup
|
|
|
NC_000002.11:g.(?_189852807)_(189855783_?)dup
|
|
|
NM_000090.3(COL3A1):c.2933del
|
rs1688561668
|
|
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG
|
|
|
NM_000090.3(COL3A1):c.638_639delinsAA (p.Gly213Glu)
|
rs1553507345
|
|
NM_000090.3(COL3A1):c.798_799delAG
|
|
|
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg)
|
rs794728040
|
|
NM_000090.4(COL3A1):c.1042G>A (p.Gly348Ser)
|
|
|
NM_000090.4(COL3A1):c.1051-1G>C
|
rs866316633
|
|
NM_000090.4(COL3A1):c.1051G>A (p.Gly351Ser)
|
rs2153502271
|
|
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val)
|
rs587779498
|
|
NM_000090.4(COL3A1):c.1061_1062insTA (p.Pro355fs)
|
rs1553507793
|
|
NM_000090.4(COL3A1):c.1070G>A (p.Gly357Glu)
|
rs2153502277
|
|
NM_000090.4(COL3A1):c.1079G>A (p.Gly360Asp)
|
|
|
NM_000090.4(COL3A1):c.1079G>T (p.Gly360Val)
|
|
|
NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg)
|
rs587779696
|
|
NM_000090.4(COL3A1):c.1105G>C (p.Gly369Arg)
|
rs868138294
|
|
NM_000090.4(COL3A1):c.1106G>T (p.Gly369Val)
|
rs1057521930
|
|
NM_000090.4(COL3A1):c.1115_1117del (p.Gly372_Pro373delinsAla)
|
|
|
NM_000090.4(COL3A1):c.1133G>A (p.Gly378Asp)
|
rs1688231067
|
|
NM_000090.4(COL3A1):c.1138C>T (p.Gln380Ter)
|
|
|
NM_000090.4(COL3A1):c.1150G>C (p.Gly384Arg)
|
|
|
NM_000090.4(COL3A1):c.1151G>A (p.Gly384Asp)
|
|
|
NM_000090.4(COL3A1):c.1151G>T (p.Gly384Val)
|
rs794727181
|
|
NM_000090.4(COL3A1):c.1173del (p.Pro392fs)
|
rs1553507863
|
|
NM_000090.4(COL3A1):c.1178G>A (p.Gly393Asp)
|
rs1553507867
|
|
NM_000090.4(COL3A1):c.1186G>A (p.Gly396Ser)
|
|
|
NM_000090.4(COL3A1):c.1187G>A (p.Gly396Asp)
|
|
|
NM_000090.4(COL3A1):c.1189G>T (p.Glu397Ter)
|
rs187907868
|
|
NM_000090.4(COL3A1):c.1196G>C (p.Gly399Ala)
|
rs1060500194
|
|
NM_000090.4(COL3A1):c.1213G>A (p.Gly405Arg)
|
|
|
NM_000090.4(COL3A1):c.1223G>A (p.Gly408Glu)
|
rs794728043
|
|
NM_000090.4(COL3A1):c.1223G>T (p.Gly408Val)
|
rs794728043
|
|
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg)
|
rs587779534
|
|
NM_000090.4(COL3A1):c.1232G>A (p.Gly411Glu)
|
rs886038816
|
|
NM_000090.4(COL3A1):c.1240G>A (p.Gly414Ser)
|
|
|
NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp)
|
rs794728044
|
|
NM_000090.4(COL3A1):c.1241G>T (p.Gly414Val)
|
rs794728044
|
|
NM_000090.4(COL3A1):c.1249G>C (p.Gly417Arg)
|
rs587779637
|
|
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)
|
rs587779692
|
|
NM_000090.4(COL3A1):c.1277G>A (p.Gly426Glu)
|
rs2153502383
|
|
NM_000090.4(COL3A1):c.1285G>A (p.Gly429Ser)
|
rs1559056179
|
|
NM_000090.4(COL3A1):c.1294-1G>C
|
rs1060500204
|
|
NM_000090.4(COL3A1):c.1294G>A (p.Gly432Ser)
|
rs794728045
|
|
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp)
|
rs1688258933
|
|
NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser)
|
rs886038952
|
|
NM_000090.4(COL3A1):c.1303G>T (p.Gly435Cys)
|
rs886038952
|
|
NM_000090.4(COL3A1):c.1313G>A (p.Gly438Asp)
|
rs2153502405
|
|
NM_000090.4(COL3A1):c.1321G>A (p.Gly441Arg)
|
|
|
NM_000090.4(COL3A1):c.1322G>A (p.Gly441Glu)
|
rs2153502406
|
|
NM_000090.4(COL3A1):c.1322del (p.Gly441fs)
|
rs1688259777
|
|
NM_000090.4(COL3A1):c.1351G>A (p.Glu451Lys)
|
rs1559056438
|
|
NM_000090.4(COL3A1):c.1357G>T (p.Gly453Cys)
|
rs2153502433
|
|
NM_000090.4(COL3A1):c.1366G>A (p.Gly456Ser)
|
|
|
NM_000090.4(COL3A1):c.1383_1384delinsTA (p.Lys461_Gly462delinsAsnSer)
|
rs2153502437
|
|
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser)
|
rs587779633
|
|
NM_000090.4(COL3A1):c.1412G>A (p.Gly471Glu)
|
|
|
NM_000090.4(COL3A1):c.1421G>A (p.Gly474Asp)
|
|
|
NM_000090.4(COL3A1):c.1421G>T (p.Gly474Val)
|
rs1553507991
|
|
NM_000090.4(COL3A1):c.1429G>T (p.Gly477Trp)
|
rs2153502447
|
|
NM_000090.4(COL3A1):c.1430G>A (p.Gly477Glu)
|
rs2153502448
|
|
NM_000090.4(COL3A1):c.1438G>A (p.Gly480Arg)
|
|
|
NM_000090.4(COL3A1):c.1457G>A (p.Gly486Asp)
|
rs1688274077
|
|
NM_000090.4(COL3A1):c.145C>G (p.Pro49Ala)
|
rs1234344050
|
|
NM_000090.4(COL3A1):c.1465G>T (p.Gly489Trp)
|
rs1688274473
|
|
NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu)
|
rs587779476
|
|
NM_000090.4(COL3A1):c.1484G>A (p.Gly495Glu)
|
rs1057524653
|
|
NM_000090.4(COL3A1):c.1484G>C (p.Gly495Ala)
|
rs1057524653
|
|
NM_000090.4(COL3A1):c.1592G>C (p.Gly531Ala)
|
|
|
NM_000090.4(COL3A1):c.1608+1G>A
|
|
|
NM_000090.4(COL3A1):c.1609-5_1615del
|
|
|
NM_000090.4(COL3A1):c.1636G>A (p.Gly546Arg)
|
|
|
NM_000090.4(COL3A1):c.1646G>A (p.Gly549Glu)
|
rs587779679
|
|
NM_000090.4(COL3A1):c.1663-1G>A
|
rs749145939
|
|
NM_000090.4(COL3A1):c.1663-1G>T
|
|
|
NM_000090.4(COL3A1):c.1663G>A (p.Gly555Arg)
|
|
|
NM_000090.4(COL3A1):c.1673_1722del (p.Gly558fs)
|
rs1553508231
|
|
NM_000090.4(COL3A1):c.1691G>C (p.Gly564Ala)
|
rs193922176
|
|
NM_000090.4(COL3A1):c.1708G>A (p.Gly570Ser)
|
rs1553508238
|
|
NM_000090.4(COL3A1):c.1709G>A (p.Gly570Asp)
|
rs2153502685
|
|
NM_000090.4(COL3A1):c.1718G>A (p.Gly573Asp)
|
|
|
NM_000090.4(COL3A1):c.1727G>A (p.Gly576Asp)
|
rs886038853
|
|
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)
|
rs121912923
|
|
NM_000090.4(COL3A1):c.1744G>T (p.Gly582Cys)
|
rs121912923
|
|
NM_000090.4(COL3A1):c.1745G>A (p.Gly582Asp)
|
rs1688322272
|
|
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val)
|
rs2153502692
|
|
NM_000090.4(COL3A1):c.1761+5G>A
|
rs397509372
|
|
NM_000090.4(COL3A1):c.1762-1G>T
|
|
|
NM_000090.4(COL3A1):c.1762G>A (p.Gly588Ser)
|
rs1553508338
|
|
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp)
|
rs587779691
|
|
NM_000090.4(COL3A1):c.1763G>T (p.Gly588Val)
|
rs587779691
|
|
NM_000090.4(COL3A1):c.1771G>T (p.Gly591Cys)
|
|
|
NM_000090.4(COL3A1):c.1789G>A (p.Gly597Ser)
|
|
|
NM_000090.4(COL3A1):c.1808G>T (p.Gly603Val)
|
rs587779477
|
|
NM_000090.4(COL3A1):c.1816-2A>G
|
|
|
NM_000090.4(COL3A1):c.1816G>T (p.Gly606Cys)
|
|
|
NM_000090.4(COL3A1):c.1817G>A (p.Gly606Asp)
|
|
|
NM_000090.4(COL3A1):c.1826G>A (p.Gly609Glu)
|
|
|
NM_000090.4(COL3A1):c.1834G>A (p.Gly612Ser)
|
rs2153502803
|
|
NM_000090.4(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla)
|
rs1576467133
|
|
NM_000090.4(COL3A1):c.1853G>A (p.Gly618Glu)
|
|
|
NM_000090.4(COL3A1):c.1862_1869+5del
|
|
|
NM_000090.4(COL3A1):c.1870-2A>T
|
rs587779575
|
|
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu)
|
rs1553508463
|
|
NM_000090.4(COL3A1):c.1915G>A (p.Gly639Arg)
|
rs587779435
|
|
NM_000090.4(COL3A1):c.1923+1G>T
|
|
|
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu)
|
rs587779620
|
|
NM_000090.4(COL3A1):c.1977+5G>A
|
rs1553508544
|
|
NM_000090.4(COL3A1):c.1978-1G>C
|
rs1064796733
|
|
NM_000090.4(COL3A1):c.1978G>A (p.Gly660Ser)
|
rs1688384382
|
|
NM_000090.4(COL3A1):c.1978G>C (p.Gly660Arg)
|
|
|
NM_000090.4(COL3A1):c.1987G>A (p.Gly663Ser)
|
rs587779433
|
|
NM_000090.4(COL3A1):c.1988G>T (p.Gly663Val)
|
rs587779454
|
|
NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp)
|
rs121912921
|
|
NM_000090.4(COL3A1):c.2023G>A (p.Gly675Ser)
|
rs2153502988
|
|
NM_000090.4(COL3A1):c.2024G>T (p.Gly675Val)
|
rs587779597
|
|
NM_000090.4(COL3A1):c.2042G>A (p.Gly681Asp)
|
rs1173194734
|
|
NM_000090.4(COL3A1):c.2060G>C (p.Gly687Ala)
|
|
|
NM_000090.4(COL3A1):c.2067_2072del (p.Gly690_Ala691del)
|
rs1576468160
|
|
NM_000090.4(COL3A1):c.2069G>A (p.Gly690Glu)
|
rs587779458
|
|
NM_000090.4(COL3A1):c.2078G>C (p.Gly693Ala)
|
rs587779442
|
|
NM_000090.4(COL3A1):c.2092_2097delinsACTGG (p.Ala698fs)
|
|
|
NM_000090.4(COL3A1):c.2092_2098delinsACTGTT (p.Ala698fs)
|
|
|
NM_000090.4(COL3A1):c.2095G>T (p.Gly699Cys)
|
|
|
NM_000090.4(COL3A1):c.2104G>C (p.Gly702Arg)
|
rs2153503006
|
|
NM_000090.4(COL3A1):c.2105G>C (p.Gly702Ala)
|
rs587779512
|
|
NM_000090.4(COL3A1):c.2105G>T (p.Gly702Val)
|
rs587779512
|
|
NM_000090.4(COL3A1):c.2113G>A (p.Gly705Arg)
|
rs587779623
|
|
NM_000090.4(COL3A1):c.2119_2121+11del
|
rs2153503009
|
|
NM_000090.4(COL3A1):c.2122G>A (p.Gly708Ser)
|
rs2153503019
|
|
NM_000090.4(COL3A1):c.2123G>A (p.Gly708Asp)
|
|
|
NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val)
|
rs111929073
|
|
NM_000090.4(COL3A1):c.2132G>T (p.Gly711Val)
|
rs794728049
|
|
NM_000090.4(COL3A1):c.2140G>A (p.Gly714Arg)
|
rs587779437
|
|
NM_000090.4(COL3A1):c.2149G>C (p.Gly717Arg)
|
|
|
NM_000090.4(COL3A1):c.2159G>A (p.Gly720Asp)
|
rs1576468332
|
|
NM_000090.4(COL3A1):c.2186G>C (p.Gly729Ala)
|
|
|
NM_000090.4(COL3A1):c.2194G>A (p.Gly732Arg)
|
rs587779606
|
|
NM_000090.4(COL3A1):c.2203G>A (p.Gly735Arg)
|
rs587779484
|
|
NM_000090.4(COL3A1):c.2212G>C (p.Gly738Arg)
|
|
|
NM_000090.4(COL3A1):c.2229+1G>A
|
rs1576468385
|
|
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)
|
|
|
NM_000090.4(COL3A1):c.2240G>A (p.Gly747Asp)
|
rs1688417659
|
|
NM_000090.4(COL3A1):c.2248G>C (p.Gly750Arg)
|
rs1688418367
|
|
NM_000090.4(COL3A1):c.2257G>T (p.Gly753Cys)
|
rs2153503066
|
|
NM_000090.4(COL3A1):c.2266G>A (p.Gly756Arg)
|
|
|
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu)
|
rs1576468562
|
|
NM_000090.4(COL3A1):c.2283+1G>A
|
rs1559058970
|
|
NM_000090.4(COL3A1):c.2284G>T (p.Gly762Cys)
|
|
|
NM_000090.4(COL3A1):c.2285G>T (p.Gly762Val)
|
rs587779541
|
|
NM_000090.4(COL3A1):c.2302G>C (p.Gly768Arg)
|
|
|
NM_000090.4(COL3A1):c.2305CCT[1] (p.Pro770del)
|
rs2153503227
|
|
NM_000090.4(COL3A1):c.2312G>A (p.Gly771Asp)
|
rs1060500193
|
|
NM_000090.4(COL3A1):c.2321G>A (p.Gly774Asp)
|
|
|
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=)
|
rs587779461
|
|
NM_000090.4(COL3A1):c.2456G>A (p.Gly819Asp)
|
rs2153503368
|
|
NM_000090.4(COL3A1):c.2483G>A (p.Gly828Glu)
|
|
|
NM_000090.4(COL3A1):c.2491G>C (p.Gly831Arg)
|
rs2153503377
|
|
NM_000090.4(COL3A1):c.2500G>C (p.Gly834Arg)
|
rs2153503381
|
|
NM_000090.4(COL3A1):c.2501G>C (p.Gly834Ala)
|
rs587779642
|
|
NM_000090.4(COL3A1):c.2536G>A (p.Gly846Arg)
|
rs1576470032
|
|
NM_000090.4(COL3A1):c.2553+5G>T
|
rs397509371
|
|
NM_000090.4(COL3A1):c.2554-2A>G
|
|
|
NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys)
|
rs2153503430
|
|
NM_000090.4(COL3A1):c.2582G>A (p.Gly861Asp)
|
rs1064796468
|
|
NM_000090.4(COL3A1):c.2607+5G>T
|
rs587779457
|
|
NM_000090.4(COL3A1):c.2608-2A>C
|
rs1057523593
|
|
NM_000090.4(COL3A1):c.2617G>T (p.Gly873Cys)
|
rs2153503462
|
|
NM_000090.4(COL3A1):c.2671G>A (p.Gly891Arg)
|
|
|
NM_000090.4(COL3A1):c.2690G>A (p.Gly897Asp)
|
rs1688529460
|
|
NM_000090.4(COL3A1):c.2716G>C (p.Gly906Arg)
|
|
|
NM_000090.4(COL3A1):c.2717G>A (p.Gly906Asp)
|
|
|
NM_000090.4(COL3A1):c.2726G>A (p.Gly909Asp)
|
rs587779483
|
|
NM_000090.4(COL3A1):c.2734G>A (p.Gly912Ser)
|
rs2153503495
|
|
NM_000090.4(COL3A1):c.2743G>A (p.Gly915Ser)
|
rs2153503498
|
|
NM_000090.4(COL3A1):c.2752G>A (p.Gly918Arg)
|
rs1085307896
|
|
NM_000090.4(COL3A1):c.2762G>A (p.Gly921Glu)
|
rs1553509187
|
|
NM_000090.4(COL3A1):c.2770G>T (p.Gly924Cys)
|
rs587779471
|
|
NM_000090.4(COL3A1):c.2771G>A (p.Gly924Asp)
|
rs587779450
|
|
NM_000090.4(COL3A1):c.2797G>A (p.Gly933Arg)
|
rs1688532582
|
|
NM_000090.4(COL3A1):c.2797G>T (p.Gly933Ter)
|
|
|
NM_000090.4(COL3A1):c.2815G>C (p.Gly939Arg)
|
rs587779550
|
|
NM_000090.4(COL3A1):c.2815G>T (p.Gly939Cys)
|
rs587779550
|
|
NM_000090.4(COL3A1):c.282+1G>C
|
rs1131692024
|
|
NM_000090.4(COL3A1):c.2823+1G>A
|
rs587779424
|
|
NM_000090.4(COL3A1):c.2823+1G>T
|
rs587779424
|
|
NM_000090.4(COL3A1):c.2824G>A (p.Gly942Arg)
|
rs587779438
|
|
NM_000090.4(COL3A1):c.2833G>A (p.Gly945Ser)
|
rs587779567
|
|
NM_000090.4(COL3A1):c.2843G>A (p.Gly948Glu)
|
rs878853651
|
|
NM_000090.4(COL3A1):c.2860G>A (p.Gly954Arg)
|
rs587779674
|
|
NM_000090.4(COL3A1):c.2887G>A (p.Gly963Ser)
|
|
|
NM_000090.4(COL3A1):c.2906G>A (p.Gly969Glu)
|
|
|
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser)
|
rs587779723
|
|
NM_000090.4(COL3A1):c.2915G>C (p.Gly972Ala)
|
rs587779559
|
|
NM_000090.4(COL3A1):c.2924G>C (p.Gly975Ala)
|
|
|
NM_000090.4(COL3A1):c.2959G>T (p.Gly987Cys)
|
|
|
NM_000090.4(COL3A1):c.2986G>A (p.Gly996Arg)
|
rs2153503634
|
|
NM_000090.4(COL3A1):c.2996G>T (p.Gly999Val)
|
rs1085307964
|
|
NM_000090.4(COL3A1):c.3014G>C (p.Gly1005Ala)
|
|
|
NM_000090.4(COL3A1):c.3032G>A (p.Gly1011Glu)
|
rs587779552
|
|
NM_000090.4(COL3A1):c.3040G>A (p.Gly1014Arg)
|
rs1553509391
|
|
NM_000090.4(COL3A1):c.3049G>A (p.Gly1017Arg)
|
rs1553509397
|
|
NM_000090.4(COL3A1):c.3077G>T (p.Gly1026Val)
|
rs1553509404
|
|
NM_000090.4(COL3A1):c.3085G>T (p.Gly1029Cys)
|
|
|
NM_000090.4(COL3A1):c.3093+1G>T
|
rs869312034
|
|
NM_000090.4(COL3A1):c.3094-10_3094delinsGT
|
rs1559061674
|
|
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser)
|
rs587779704
|
|
NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys)
|
rs587779704
|
|
NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg)
|
rs1559061706
|
|
NM_000090.4(COL3A1):c.3121G>C (p.Gly1041Arg)
|
rs1688586251
|
|
NM_000090.4(COL3A1):c.3143_3160dup (p.Gly1053_Pro1054insHisProGlyProProGly)
|
|
|
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp)
|
rs1576471840
|
|
NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp)
|
rs587779540
|
|
NM_000090.4(COL3A1):c.3184G>A (p.Gly1062Ser)
|
|
|
NM_000090.4(COL3A1):c.3185G>A (p.Gly1062Asp)
|
|
|
NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg)
|
rs587779563
|
|
NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys)
|
rs1559061954
|
|
NM_000090.4(COL3A1):c.3203G>A (p.Gly1068Asp)
|
|
|
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val)
|
rs587779709
|
|
NM_000090.4(COL3A1):c.3221G>A (p.Gly1074Asp)
|
rs2153503790
|
|
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser)
|
rs886038892
|
|
NM_000090.4(COL3A1):c.3244C>T (p.Arg1082Ter)
|
|
|
NM_000090.4(COL3A1):c.3256-1G>A
|
rs1688619749
|
|
NM_000090.4(COL3A1):c.3266G>T (p.Gly1089Val)
|
rs587779672
|
|
NM_000090.4(COL3A1):c.3292G>C (p.Gly1098Arg)
|
rs2153503896
|
|
NM_000090.4(COL3A1):c.3319G>A (p.Gly1107Arg)
|
rs587779561
|
|
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)
|
rs112371422
|
|
NM_000090.4(COL3A1):c.3329G>A (p.Gly1110Glu)
|
rs794728055
|
|
NM_000090.4(COL3A1):c.3338G>A (p.Gly1113Asp)
|
|
|
NM_000090.4(COL3A1):c.334-2A>G
|
rs1553506938
|
|
NM_000090.4(COL3A1):c.3356G>A (p.Gly1119Asp)
|
rs587779639
|
|
NM_000090.4(COL3A1):c.3374G>A (p.Gly1125Asp)
|
|
|
NM_000090.4(COL3A1):c.3383G>T (p.Gly1128Val)
|
rs2153503949
|
|
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser)
|
rs587779536
|
|
NM_000090.4(COL3A1):c.3392G>T (p.Gly1131Val)
|
|
|
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu)
|
rs587779495
|
|
NM_000090.4(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del)
|
rs1576472890
|
|
NM_000090.4(COL3A1):c.3446G>A (p.Gly1149Asp)
|
rs1688635593
|
|
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg)
|
rs587779715
|
|
NM_000090.4(COL3A1):c.3482G>A (p.Gly1161Glu)
|
rs587779473
|
|
NM_000090.4(COL3A1):c.3491G>A (p.Gly1164Glu)
|
rs587779431
|
|
NM_000090.4(COL3A1):c.3494C>T (p.Pro1165Leu)
|
rs763107572
|
|
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)
|
rs587779646
|
|
NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg)
|
rs587779609
|
|
NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys)
|
rs587779609
|
|
NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp)
|
rs587779578
|
|
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser)
|
rs587779482
|
|
NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu)
|
rs121912918
|
|
NM_000090.4(COL3A1):c.3526-1G>C
|
|
|
NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val)
|
rs587779627
|
|
NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp)
|
rs121912917
|
|
NM_000090.4(COL3A1):c.3572G>A (p.Gly1191Asp)
|
rs587779703
|
|
NM_000090.4(COL3A1):c.3581G>A (p.Gly1194Asp)
|
rs1553509744
|
|
NM_000090.4(COL3A1):c.3763C>T (p.Arg1255Cys)
|
rs1576473569
|
|
NM_000090.4(COL3A1):c.3823+1G>T
|
rs1576473641
|
|
NM_000090.4(COL3A1):c.3851G>A (p.Gly1284Glu)
|
rs587779528
|
|
NM_000090.4(COL3A1):c.396del (p.Gly133fs)
|
|
|
NM_000090.4(COL3A1):c.4012-2A>G
|
rs1559063681
|
|
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)
|
rs794728060
|
|
NM_000090.4(COL3A1):c.4096C>T (p.Gln1366Ter)
|
rs863224860
|
|
NM_000090.4(COL3A1):c.4175T>G (p.Leu1392Arg)
|
rs1553509934
|
|
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=)
|
rs587779565
|
|
NM_000090.4(COL3A1):c.4294C>T (p.Arg1432Ter)
|
rs587779585
|
|
NM_000090.4(COL3A1):c.4323_4326del (p.Ile1441fs)
|
rs2153504449
|
|
NM_000090.4(COL3A1):c.4367T>C (p.Phe1456Ser)
|
|
|
NM_000090.4(COL3A1):c.4368T>A (p.Phe1456Leu)
|
rs1688732322
|
|
NM_000090.4(COL3A1):c.447+1G>A
|
rs1559053022
|
|
NM_000090.4(COL3A1):c.448-1G>T
|
rs1688078187
|
|
NM_000090.4(COL3A1):c.499GGA[1] (p.Gly168del)
|
rs1688079577
|
|
NM_000090.4(COL3A1):c.511G>A (p.Gly171Ser)
|
rs2153501643
|
|
NM_000090.4(COL3A1):c.528+5G>A
|
rs794728038
|
|
NM_000090.4(COL3A1):c.528+5G>C
|
rs794728038
|
|
NM_000090.4(COL3A1):c.528+5G>T
|
|
|
NM_000090.4(COL3A1):c.529G>A (p.Gly177Ser)
|
|
|
NM_000090.4(COL3A1):c.530G>C (p.Gly177Ala)
|
rs2153501733
|
|
NM_000090.4(COL3A1):c.530G>T (p.Gly177Val)
|
rs2153501733
|
|
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)
|
rs121912926
|
|
NM_000090.4(COL3A1):c.565G>A (p.Gly189Ser)
|
rs587779507
|
|
NM_000090.4(COL3A1):c.582+1G>C
|
rs587779508
|
|
NM_000090.4(COL3A1):c.582+2_582+16del
|
|
|
NM_000090.4(COL3A1):c.582+5G>A
|
rs587779671
|
|
NM_000090.4(COL3A1):c.584G>T (p.Gly195Val)
|
rs1553507249
|
|
NM_000090.4(COL3A1):c.593G>A (p.Gly198Glu)
|
rs587779641
|
|
NM_000090.4(COL3A1):c.601G>T (p.Gly201Ter)
|
rs587779436
|
|
NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp)
|
rs587779626
|
|
NM_000090.4(COL3A1):c.622C>T (p.Gln208Ter)
|
rs746358771
|
|
NM_000090.4(COL3A1):c.636+1G>T
|
|
|
NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp)
|
rs2153501864
|
|
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu)
|
rs587779596
|
|
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala)
|
rs587779533
|
|
NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter)
|
rs1393544920
|
|
NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys)
|
rs1553507432
|
|
NM_000090.4(COL3A1):c.727G>C (p.Gly243Arg)
|
|
|
NM_000090.4(COL3A1):c.728G>T (p.Gly243Val)
|
rs587779629
|
|
NM_000090.4(COL3A1):c.745G>A (p.Gly249Ser)
|
rs2153501969
|
|
NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp)
|
rs121912927
|
|
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys)
|
rs587779705
|
|
NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala)
|
rs1559054653
|
|
NM_000090.4(COL3A1):c.781G>C (p.Gly261Arg)
|
rs2153501976
|
|
NM_000090.4(COL3A1):c.782G>A (p.Gly261Asp)
|
rs587779635
|
|
NM_000090.4(COL3A1):c.785_786insTTT (p.Met262delinsIleLeu)
|
|
|
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu)
|
rs587779604
|
|
NM_000090.4(COL3A1):c.80-1G>C
|
rs1559052551
|
|
NM_000090.4(COL3A1):c.80-2A>T
|
rs2153501340
|
|
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu)
|
rs587779478
|
|
NM_000090.4(COL3A1):c.818G>A (p.Gly273Glu)
|
|
|
NM_000090.4(COL3A1):c.827G>T (p.Gly276Val)
|
rs587779644
|
|
NM_000090.4(COL3A1):c.852+1G>A
|
|
|
NM_000090.4(COL3A1):c.862G>A (p.Gly288Ser)
|
rs1333066574
|
|
NM_000090.4(COL3A1):c.880G>A (p.Gly294Arg)
|
rs2153502094
|
|
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg)
|
rs1553507557
|
|
NM_000090.4(COL3A1):c.897+1G>A
|
rs1057518372
|
|
NM_000090.4(COL3A1):c.898-1G>A
|
|
|
NM_000090.4(COL3A1):c.898-2A>G
|
rs1553507574
|
|
NM_000090.4(COL3A1):c.898G>C (p.Gly300Arg)
|
rs587779481
|
|
NM_000090.4(COL3A1):c.922C>T (p.Arg308Ter)
|
|
|
NM_000090.4(COL3A1):c.926G>A (p.Gly309Glu)
|
rs113871730
|
|
NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs)
|
rs772827388
|
|
NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala)
|
rs587779487
|
|
NM_000090.4(COL3A1):c.944G>T (p.Gly315Val)
|
rs587779487
|
|
NM_000090.4(COL3A1):c.951+4A>T
|
rs587779598
|
|
NM_000090.4(COL3A1):c.952G>T (p.Gly318Cys)
|
|
|
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)
|
rs1553507614
|
|
NM_000090.4(COL3A1):c.961G>A (p.Gly321Ser)
|
rs1688203788
|
|
NM_000090.4(COL3A1):c.962G>A (p.Gly321Asp)
|
rs587779588
|
|
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)
|
rs587779650
|
|
NM_000090.4(COL3A1):c.971G>T (p.Gly324Val)
|
rs2153502168
|
|
NM_000090.4(COL3A1):c.992A>T (p.Gln331Leu)
|
|
|
NM_000090.4(COL3A1):c.997-1G>C
|
rs587779687
|
|
NM_000090.4(COL3A1):c.997-1G>T
|
rs587779687
|
|
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp)
|
rs587779673
|
|
NM_000090.4:c.-46_4368del
|
|
|