NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met)
|
rs121912575
|
0.00061
|
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)
|
rs200503833
|
0.00019
|
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys)
|
rs200487396
|
0.00015
|
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)
|
rs72654799
|
0.00009
|
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)
|
rs28937869
|
0.00009
|
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter)
|
rs137853146
|
0.00006
|
NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp)
|
rs187063864
|
0.00005
|
NM_000302.4(PLOD1):c.1651-2A>G
|
rs565513365
|
0.00004
|
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val)
|
rs786200938
|
0.00004
|
NM_000089.4(COL1A2):c.830G>C (p.Gly277Ala)
|
rs752431578
|
0.00003
|
NM_000090.4(COL3A1):c.724C>T (p.Arg242Ter)
|
rs1333421028
|
0.00003
|
NM_000090.4(COL3A1):c.962G>T (p.Gly321Val)
|
rs587779588
|
0.00003
|
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter)
|
rs121913554
|
0.00003
|
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)
|
rs121913551
|
0.00003
|
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)
|
rs749621872
|
0.00002
|
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
|
rs121913552
|
0.00002
|
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter)
|
rs777647845
|
0.00002
|
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs)
|
rs1471550984
|
0.00002
|
NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp)
|
rs121917817
|
0.00002
|
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys)
|
rs761027478
|
0.00002
|
NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys)
|
rs387907111
|
0.00002
|
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)
|
rs1247205097
|
0.00002
|
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)
|
rs72651642
|
0.00001
|
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)
|
rs72653170
|
0.00001
|
NM_000089.4(COL1A2):c.1404+1G>A
|
rs67162110
|
0.00001
|
NM_000089.4(COL1A2):c.2098G>T (p.Gly700Cys)
|
rs72658160
|
0.00001
|
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)
|
rs72659306
|
0.00001
|
NM_000089.4(COL1A2):c.2958del (p.Val987fs)
|
rs1064793527
|
0.00001
|
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)
|
rs1410254723
|
0.00001
|
NM_000089.4(COL1A2):c.389G>A (p.Gly130Asp)
|
rs72656360
|
0.00001
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
0.00001
|
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser)
|
rs72656392
|
0.00001
|
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
|
rs1032781250
|
0.00001
|
NM_000302.4(PLOD1):c.166C>T (p.Gln56Ter)
|
rs1433428588
|
0.00001
|
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter)
|
rs1439043436
|
0.00001
|
NM_000302.4(PLOD1):c.467-2del
|
rs1440249864
|
0.00001
|
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter)
|
rs121913550
|
0.00001
|
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter)
|
rs1224538282
|
0.00001
|
NM_000477.5(ALB):c.71G>A (p.Arg24Gln)
|
rs74821926
|
0.00001
|
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu)
|
rs267606815
|
0.00001
|
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp)
|
rs121434363
|
0.00001
|
NM_001129.5(AEBP1):c.1630+1G>A
|
rs369016031
|
0.00001
|
NM_001129.5(AEBP1):c.1925T>C (p.Leu642Pro)
|
rs753531562
|
0.00001
|
NM_001129.5(AEBP1):c.917dup (p.Tyr306Ter)
|
rs1443187318
|
0.00001
|
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter)
|
rs1304140510
|
0.00001
|
NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro)
|
rs375845310
|
0.00001
|
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr)
|
rs753594601
|
0.00001
|
NM_007255.3(B4GALT7):c.829G>T (p.Glu277Ter)
|
rs1481659687
|
0.00001
|
NM_014244.5(ADAMTS2):c.2938C>T (p.Arg980Ter)
|
rs1171795845
|
0.00001
|
NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter)
|
rs387907110
|
0.00001
|
NM_018699.4(PRDM5):c.974del (p.Cys325fs)
|
rs766853150
|
0.00001
|
NM_080605.4(B3GALT6):c.353del (p.Asp118fs)
|
rs750088530
|
0.00001
|
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys)
|
rs1314046622
|
0.00001
|
NM_130468.4(CHST14):c.171del (p.Leu58fs)
|
rs1256212335
|
0.00001
|
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro)
|
rs121908257
|
0.00001
|
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys)
|
rs121908258
|
0.00001
|
COL1A2, EX6DEL
|
|
|
COL3A1, GLY373ARG
|
|
|
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
|
|
|
NC_000001.10:g.(?_12008013)_(12008144_?)del
|
|
|
NC_000001.10:g.(?_12014867)_(12014970_?)del
|
|
|
NC_000001.10:g.(?_12020683)_(12027168_?)dup
|
|
|
NC_000001.10:g.(?_12020693)_(12027158_?)dup
|
|
|
NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup
|
|
|
NC_000001.11:g.(?_11949763)_(11952745_?)del
|
|
|
NC_000001.11:g.11963531GA[1]
|
|
|
NC_000002.11:g.(?_189839196)_(189839314_?)dup
|
|
|
NC_000002.11:g.(?_189839206)_(189950508_?)del
|
|
|
NC_000002.11:g.(?_189839216)_(189839314_?)del
|
|
|
NC_000002.11:g.(?_189839216)_(190044330_?)del
|
|
|
NC_000002.11:g.(?_189856193)_(189856974_?)del
|
|
|
NC_000002.11:g.(?_189860841)_(189861232_?)del
|
|
|
NC_000002.12:g.(?_188974470)_(189580480_?)del
|
|
|
NC_000002.12:g.(?_188974480)_(189580648_?)del
|
|
|
NC_000005.10:g.(?_179272901)_(179273074_?)del
|
|
|
NC_000005.9:g.(?_178634504)_(178634726_?)del
|
|
|
NC_000005.9:g.(?_178699902)_(178772339_?)del
|
|
|
NC_000005.9:g.(?_178770758)_(178772339_?)del
|
|
|
NC_000006.11:g.(?_75796253)_(75912518_?)del
|
|
|
NC_000006.11:g.(?_75833026)_(75912508_?)del
|
|
|
NC_000006.11:g.(?_75855798)_(75861023_?)del
|
|
|
NC_000007.13:g.(?_94037139)_(94037712_?)dup
|
|
|
NC_000007.13:g.(?_94037139)_(94038155_?)dup
|
|
|
NC_000007.13:g.(?_94037531)_(94038117_?)del
|
|
|
NC_000007.13:g.94035075_94047591dup
|
|
|
NC_000007.14:g.(?_94395012)_(94395818_?)del
|
|
|
NC_000007.14:g.(?_94395012)_(94399104_?)del
|
|
|
NC_000007.14:g.94425611del
|
|
|
NC_000009.11:g.(?_137534024)_(137620663_?)del
|
|
|
NC_000009.11:g.(?_137534034)_(137582945_?)del
|
|
|
NC_000009.11:g.(?_137582748)_(137677904_?)del
|
|
|
NC_000009.11:g.(?_137591735)_(137593199_?)del
|
|
|
NC_000009.11:g.(?_137593011)_(137727056_?)del
|
|
|
NC_000009.11:g.(?_137619102)_(137698152_?)dup
|
|
|
NC_000009.11:g.(?_137645560)_137650136del
|
|
|
NC_000009.11:g.(?_137664616)_(137734149_?)del
|
|
|
NC_000009.11:g.(?_137709604)_(137717770_?)del
|
|
|
NC_000009.11:g.(?_137733983)_(137734149_?)del
|
|
|
NC_000009.12:g.(?_134642178)_(134701343_?)del
|
|
|
NC_000009.12:g.(?_134642178)_(134768473_?)del
|
|
|
NC_000009.12:g.(?_134690892)_(134763757_?)del
|
|
|
NC_000009.12:g.(?_134690902)_(134727407_?)del
|
|
|
NC_000009.12:g.(?_134699889)_(134700142_?)del
|
|
|
NC_000009.12:g.(?_134701171)_(134835204_?)del
|
|
|
NC_000009.12:g.(?_134752569)_(134752665_?)del
|
|
|
NC_000009.12:g.(?_134782657)_(134842313_?)del
|
|
|
NC_000009.12:g.134765683del
|
|
|
NC_000009.12:g.134824601del
|
rs1588597744
|
|
NG_023212.2:g.(6563_77264)_(169258_191449)del
|
|
|
NG_042181.1:(g.89607_91434)_(105703_107097)del
|
|
|
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)
|
rs72648326
|
|
NM_000088.4(COL1A1):c.1299+1G>A
|
rs66490707
|
|
NM_000088.4(COL1A1):c.1667del (p.Pro556fs)
|
rs1351742344
|
|
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)
|
rs67507747
|
|
NM_000088.4(COL1A1):c.1821+1G>A
|
rs66555264
|
|
NM_000088.4(COL1A1):c.2343+1G>A
|
rs1114167378
|
|
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)
|
rs67879854
|
|
NM_000088.4(COL1A1):c.288del (p.Asp97fs)
|
rs2144593759
|
|
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)
|
rs72653173
|
|
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])
|
rs74315111
|
|
NM_000088.4(COL1A1):c.3207+1G>A
|
rs1555572239
|
|
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)
|
rs1555571916
|
|
NM_000088.4(COL1A1):c.4006-1G>A
|
|
|
NM_000088.4(COL1A1):c.472-1G>A
|
rs72667020
|
|
NM_000088.4(COL1A1):c.472-1G>T
|
rs72667020
|
|
NM_000088.4(COL1A1):c.472-2A>T
|
rs72667019
|
|
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)
|
rs72667022
|
|
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)
|
rs1114167408
|
|
NM_000088.4(COL1A1):c.572G>A (p.Gly191Asp)
|
rs67828806
|
|
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)
|
rs72645321
|
|
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)
|
rs72645347
|
|
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)
|
rs72645357
|
|
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)
|
rs67865220
|
|
NM_000089.4(COL1A2):c.1009G>T (p.Gly337Cys)
|
|
|
NM_000089.4(COL1A2):c.1010G>C (p.Gly337Ala)
|
rs2115894285
|
|
NM_000089.4(COL1A2):c.1010G>T (p.Gly337Val)
|
|
|
NM_000089.4(COL1A2):c.1036-1G>T
|
|
|
NM_000089.4(COL1A2):c.1045G>A (p.Gly349Ser)
|
rs66773001
|
|
NM_000089.4(COL1A2):c.1045G>C (p.Gly349Arg)
|
rs66773001
|
|
NM_000089.4(COL1A2):c.1045G>T (p.Gly349Cys)
|
rs66773001
|
|
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)
|
rs66619856
|
|
NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys)
|
rs1791894410
|
|
NM_000089.4(COL1A2):c.1099G>A (p.Gly367Arg)
|
|
|
NM_000089.4(COL1A2):c.1109G>T (p.Gly370Val)
|
rs72658104
|
|
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)
|
rs67543427
|
|
NM_000089.4(COL1A2):c.1144G>A (p.Gly382Ser)
|
rs2115896730
|
|
NM_000089.4(COL1A2):c.1153G>C (p.Gly385Arg)
|
|
|
NM_000089.4(COL1A2):c.1154G>A (p.Gly385Glu)
|
|
|
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)
|
rs67707918
|
|
NM_000089.4(COL1A2):c.1171G>T (p.Gly391Cys)
|
rs67707918
|
|
NM_000089.4(COL1A2):c.1197+5G>A
|
rs68132885
|
|
NM_000089.4(COL1A2):c.1197+5G>C
|
|
|
NM_000089.4(COL1A2):c.1216G>A (p.Gly406Ser)
|
rs72658108
|
|
NM_000089.4(COL1A2):c.1270G>A (p.Gly424Ser)
|
rs72658112
|
|
NM_000089.4(COL1A2):c.1279G>A (p.Gly427Ser)
|
|
|
NM_000089.4(COL1A2):c.1289G>A (p.Gly430Glu)
|
rs1791913210
|
|
NM_000089.4(COL1A2):c.1324G>A (p.Gly442Arg)
|
rs1554396361
|
|
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)
|
rs1584320605
|
|
NM_000089.4(COL1A2):c.1378G>A (p.Gly460Ser)
|
rs72658118
|
|
NM_000089.4(COL1A2):c.1388G>C (p.Gly463Ala)
|
rs2115902837
|
|
NM_000089.4(COL1A2):c.1404+1G>C
|
rs67162110
|
|
NM_000089.4(COL1A2):c.1430del (p.Pro477fs)
|
|
|
NM_000089.4(COL1A2):c.1441G>C (p.Gly481Arg)
|
rs72658120
|
|
NM_000089.4(COL1A2):c.1459G>A (p.Gly487Arg)
|
rs1791952936
|
|
NM_000089.4(COL1A2):c.1478G>A (p.Gly493Glu)
|
rs72658121
|
|
NM_000089.4(COL1A2):c.1478G>T (p.Gly493Val)
|
|
|
NM_000089.4(COL1A2):c.1513G>A (p.Gly505Ser)
|
rs1554396679
|
|
NM_000089.4(COL1A2):c.1515del (p.Asn507fs)
|
|
|
NM_000089.4(COL1A2):c.1531G>A (p.Gly511Ser)
|
rs72658125
|
|
NM_000089.4(COL1A2):c.1532G>A (p.Gly511Asp)
|
rs66999265
|
|
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala)
|
rs1791962073
|
|
NM_000089.4(COL1A2):c.1549G>A (p.Gly517Ser)
|
|
|
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)
|
rs72658129
|
|
NM_000089.4(COL1A2):c.1630G>A (p.Gly544Ser)
|
|
|
NM_000089.4(COL1A2):c.1648G>A (p.Gly550Ser)
|
|
|
NM_000089.4(COL1A2):c.1666G>T (p.Gly556Cys)
|
rs1554396832
|
|
NM_000089.4(COL1A2):c.1675G>A (p.Gly559Ser)
|
|
|
NM_000089.4(COL1A2):c.1693G>A (p.Gly565Ser)
|
|
|
NM_000089.4(COL1A2):c.1694G>C (p.Gly565Ala)
|
rs794727470
|
|
NM_000089.4(COL1A2):c.1710dup (p.Gly571fs)
|
|
|
NM_000089.4(COL1A2):c.1748G>C (p.Gly583Ala)
|
rs1554396983
|
|
NM_000089.4(COL1A2):c.1757G>C (p.Gly586Ala)
|
rs121912907
|
|
NM_000089.4(COL1A2):c.1774G>A (p.Gly592Ser)
|
rs72658141
|
|
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)
|
rs72658143
|
|
NM_000089.4(COL1A2):c.1809del (p.Gly604fs)
|
rs1321582299
|
|
NM_000089.4(COL1A2):c.1844_1850del (p.Pro615fs)
|
rs2115917238
|
|
NM_000089.4(COL1A2):c.1846G>A (p.Gly616Arg)
|
|
|
NM_000089.4(COL1A2):c.1846G>C (p.Gly616Arg)
|
|
|
NM_000089.4(COL1A2):c.1863G>A (p.Lys621=)
|
|
|
NM_000089.4(COL1A2):c.1864G>T (p.Gly622Cys)
|
rs2115921275
|
|
NM_000089.4(COL1A2):c.1883G>A (p.Gly628Asp)
|
|
|
NM_000089.4(COL1A2):c.1892G>A (p.Gly631Asp)
|
rs1584324507
|
|
NM_000089.4(COL1A2):c.1892G>T (p.Gly631Val)
|
rs1584324507
|
|
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)
|
rs72658150
|
|
NM_000089.4(COL1A2):c.1963G>A (p.Gly655Arg)
|
rs2115921786
|
|
NM_000089.4(COL1A2):c.1964G>A (p.Gly655Glu)
|
rs1554397275
|
|
NM_000089.4(COL1A2):c.1981G>C (p.Gly661Arg)
|
|
|
NM_000089.4(COL1A2):c.1981G>T (p.Gly661Cys)
|
rs72658152
|
|
NM_000089.4(COL1A2):c.1990G>C (p.Gly664Arg)
|
|
|
NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp)
|
rs72658154
|
|
NM_000089.4(COL1A2):c.2018G>A (p.Gly673Asp)
|
rs2115924495
|
|
NM_000089.4(COL1A2):c.2026-1_2042dup
|
rs1584325529
|
|
NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp)
|
rs66883877
|
|
NM_000089.4(COL1A2):c.2038_2055dup (p.Gly685_Pro686insAlaValGlyAlaProGly)
|
|
|
NM_000089.4(COL1A2):c.2081G>A (p.Gly694Asp)
|
|
|
NM_000089.4(COL1A2):c.2098G>C (p.Gly700Arg)
|
rs72658160
|
|
NM_000089.4(COL1A2):c.2133+6T>A
|
rs72658164
|
|
NM_000089.4(COL1A2):c.2152G>A (p.Gly718Ser)
|
rs72658168
|
|
NM_000089.4(COL1A2):c.2188G>A (p.Gly730Ser)
|
rs72658171
|
|
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys)
|
rs72658173
|
|
NM_000089.4(COL1A2):c.2215G>A (p.Gly739Arg)
|
rs72658174
|
|
NM_000089.4(COL1A2):c.2215G>C (p.Gly739Arg)
|
rs72658174
|
|
NM_000089.4(COL1A2):c.2251G>A (p.Gly751Ser)
|
rs72658176
|
|
NM_000089.4(COL1A2):c.2252G>T (p.Gly751Val)
|
rs1792139807
|
|
NM_000089.4(COL1A2):c.226-1G>C
|
rs66820119
|
|
NM_000089.4(COL1A2):c.226-2A>G
|
rs72656355
|
|
NM_000089.4(COL1A2):c.2260G>T (p.Gly754Cys)
|
rs72658177
|
|
NM_000089.4(COL1A2):c.2278G>A (p.Gly760Arg)
|
rs1584326393
|
|
NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp)
|
rs72658179
|
|
NM_000089.4(COL1A2):c.2295+1G>A
|
|
|
NM_000089.4(COL1A2):c.2296G>A (p.Gly766Ser)
|
rs72658182
|
|
NM_000089.4(COL1A2):c.2296G>C (p.Gly766Arg)
|
rs72658182
|
|
NM_000089.4(COL1A2):c.2305G>A (p.Gly769Ser)
|
|
|
NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys)
|
rs1792147522
|
|
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)
|
rs72658185
|
|
NM_000089.4(COL1A2):c.2323G>C (p.Gly775Arg)
|
rs2115933691
|
|
NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu)
|
rs1792148801
|
|
NM_000089.4(COL1A2):c.2330GTG[1] (p.Gly778del)
|
|
|
NM_000089.4(COL1A2):c.2341G>C (p.Gly781Arg)
|
rs1792149726
|
|
NM_000089.4(COL1A2):c.2348dup (p.Gly784fs)
|
|
|
NM_000089.4(COL1A2):c.2359G>T (p.Gly787Cys)
|
|
|
NM_000089.4(COL1A2):c.2360G>C (p.Gly787Ala)
|
rs2115936945
|
|
NM_000089.4(COL1A2):c.2387G>C (p.Gly796Ala)
|
rs72658189
|
|
NM_000089.4(COL1A2):c.2413G>T (p.Gly805Cys)
|
rs72658190
|
|
NM_000089.4(COL1A2):c.2422G>A (p.Gly808Ser)
|
rs763053421
|
|
NM_000089.4(COL1A2):c.2431G>A (p.Gly811Ser)
|
rs2115940948
|
|
NM_000089.4(COL1A2):c.2521G>A (p.Gly841Ser)
|
rs72658194
|
|
NM_000089.4(COL1A2):c.2539G>A (p.Gly847Ser)
|
|
|
NM_000089.4(COL1A2):c.2565+1G>A
|
rs72658198
|
|
NM_000089.4(COL1A2):c.2565+1G>C
|
rs72658198
|
|
NM_000089.4(COL1A2):c.2565+2T>A
|
rs2115941689
|
|
NM_000089.4(COL1A2):c.2565+3_2565+6del
|
rs1584328061
|
|
NM_000089.4(COL1A2):c.2576G>A (p.Gly859Asp)
|
|
|
NM_000089.4(COL1A2):c.2603G>C (p.Gly868Ala)
|
rs2115946426
|
|
NM_000089.4(COL1A2):c.2674-3T>G
|
rs72659303
|
|
NM_000089.4(COL1A2):c.2675G>A (p.Gly892Asp)
|
rs72659304
|
|
NM_000089.4(COL1A2):c.2711G>T (p.Gly904Val)
|
|
|
NM_000089.4(COL1A2):c.2719G>A (p.Gly907Ser)
|
rs1554398251
|
|
NM_000089.4(COL1A2):c.271G>T (p.Gly91Ter)
|
rs764355552
|
|
NM_000089.4(COL1A2):c.2746G>A (p.Gly916Arg)
|
rs72659308
|
|
NM_000089.4(COL1A2):c.2755G>T (p.Gly919Cys)
|
rs749621872
|
|
NM_000089.4(COL1A2):c.2756G>A (p.Gly919Asp)
|
rs1554398261
|
|
NM_000089.4(COL1A2):c.279+1G>A
|
rs67398234
|
|
NM_000089.4(COL1A2):c.279+2T>C
|
rs72656357
|
|
NM_000089.4(COL1A2):c.2791G>A (p.Gly931Arg)
|
rs1792256171
|
|
NM_000089.4(COL1A2):c.279G>A (p.Met93Ile)
|
rs72656356
|
|
NM_000089.4(COL1A2):c.2819G>T (p.Gly940Val)
|
rs1792257312
|
|
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)
|
rs193922165
|
|
NM_000089.4(COL1A2):c.2835+1G>A
|
rs72659310
|
|
NM_000089.4(COL1A2):c.2835+1G>T
|
|
|
NM_000089.4(COL1A2):c.2845G>A (p.Gly949Ser)
|
rs72659312
|
|
NM_000089.4(COL1A2):c.2882G>A (p.Gly961Asp)
|
|
|
NM_000089.4(COL1A2):c.2918G>A (p.Gly973Asp)
|
|
|
NM_000089.4(COL1A2):c.293dup (p.Pro98_Arg99insTer)
|
rs797044459
|
|
NM_000089.4(COL1A2):c.2944G>A (p.Gly982Ser)
|
rs1792269292
|
|
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)
|
rs72659319
|
|
NM_000089.4(COL1A2):c.3105+2T>C
|
rs72659324
|
|
NM_000089.4(COL1A2):c.3124G>A (p.Gly1042Ser)
|
rs72659327
|
|
NM_000089.4(COL1A2):c.3143G>A (p.Gly1048Asp)
|
|
|
NM_000089.4(COL1A2):c.3170G>A (p.Gly1057Asp)
|
rs2115957747
|
|
NM_000089.4(COL1A2):c.3233G>A (p.Gly1078Asp)
|
rs72659332
|
|
NM_000089.4(COL1A2):c.3238C>T (p.Arg1080Ter)
|
rs780395429
|
|
NM_000089.4(COL1A2):c.324+4del
|
rs1791756559
|
|
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)
|
rs1792298693
|
|
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)
|
rs1114167416
|
|
NM_000089.4(COL1A2):c.3276del (p.Gly1093fs)
|
rs1173518955
|
|
NM_000089.4(COL1A2):c.3277G>C (p.Gly1093Arg)
|
rs2115959456
|
|
NM_000089.4(COL1A2):c.3286G>A (p.Gly1096Ser)
|
rs1792308325
|
|
NM_000089.4(COL1A2):c.3287G>A (p.Gly1096Asp)
|
|
|
NM_000089.4(COL1A2):c.3305G>A (p.Gly1102Asp)
|
|
|
NM_000089.4(COL1A2):c.3358G>A (p.Asp1120Asn)
|
rs2115959912
|
|
NM_000089.4(COL1A2):c.3359A>G (p.Asp1120Gly)
|
rs2115959926
|
|
NM_000089.4(COL1A2):c.335G>A (p.Gly112Asp)
|
rs1791759246
|
|
NM_000089.4(COL1A2):c.343G>A (p.Gly115Arg)
|
rs1791759301
|
|
NM_000089.4(COL1A2):c.3495C>G (p.Asp1165Glu)
|
rs72659340
|
|
NM_000089.4(COL1A2):c.353G>A (p.Gly118Asp)
|
|
|
NM_000089.4(COL1A2):c.353G>T (p.Gly118Val)
|
rs72656358
|
|
NM_000089.4(COL1A2):c.3583T>A (p.Cys1195Ser)
|
|
|
NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)
|
rs2115962248
|
|
NM_000089.4(COL1A2):c.3584G>C (p.Cys1195Ser)
|
|
|
NM_000089.4(COL1A2):c.3601G>T (p.Glu1201Ter)
|
rs72659343
|
|
NM_000089.4(COL1A2):c.362G>A (p.Gly121Asp)
|
rs2115875700
|
|
NM_000089.4(COL1A2):c.3815G>T (p.Cys1272Phe)
|
rs1554398835
|
|
NM_000089.4(COL1A2):c.389G>T (p.Gly130Val)
|
rs72656360
|
|
NM_000089.4(COL1A2):c.402_413del (p.Ala135_Pro138del)
|
|
|
NM_000089.4(COL1A2):c.407G>A (p.Gly136Asp)
|
rs1057524847
|
|
NM_000089.4(COL1A2):c.432+1G>A
|
rs1554395431
|
|
NM_000089.4(COL1A2):c.432+1G>C
|
|
|
NM_000089.4(COL1A2):c.432+1G>T
|
rs1554395431
|
|
NM_000089.4(COL1A2):c.432+4_432+7del
|
rs72656363
|
|
NM_000089.4(COL1A2):c.432+5G>A
|
rs72656364
|
|
NM_000089.4(COL1A2):c.433-1G>C
|
|
|
NM_000089.4(COL1A2):c.433-2A>C
|
rs1554395471
|
|
NM_000089.4(COL1A2):c.434G>A (p.Gly145Asp)
|
|
|
NM_000089.4(COL1A2):c.454C>T (p.Arg152Ter)
|
rs1791771616
|
|
NM_000089.4(COL1A2):c.478G>A (p.Gly160Arg)
|
|
|
NM_000089.4(COL1A2):c.486+1G>A
|
|
|
NM_000089.4(COL1A2):c.487-4_501del
|
rs74315146
|
|
NM_000089.4(COL1A2):c.540+5G>A
|
rs72656367
|
|
NM_000089.4(COL1A2):c.542G>A (p.Gly181Glu)
|
|
|
NM_000089.4(COL1A2):c.569G>A (p.Gly190Glu)
|
rs72656369
|
|
NM_000089.4(COL1A2):c.569G>T (p.Gly190Val)
|
|
|
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser)
|
rs72656370
|
|
NM_000089.4(COL1A2):c.577G>C (p.Gly193Arg)
|
|
|
NM_000089.4(COL1A2):c.586G>A (p.Gly196Ser)
|
rs1057517953
|
|
NM_000089.4(COL1A2):c.586G>C (p.Gly196Arg)
|
|
|
NM_000089.4(COL1A2):c.586G>T (p.Gly196Cys)
|
rs1057517953
|
|
NM_000089.4(COL1A2):c.587G>A (p.Gly196Asp)
|
|
|
NM_000089.4(COL1A2):c.587G>T (p.Gly196Val)
|
|
|
NM_000089.4(COL1A2):c.594+1G>T
|
rs2115881240
|
|
NM_000089.4(COL1A2):c.605G>A (p.Gly202Asp)
|
rs72656377
|
|
NM_000089.4(COL1A2):c.632G>A (p.Gly211Asp)
|
rs72656378
|
|
NM_000089.4(COL1A2):c.693+1G>A
|
|
|
NM_000089.4(COL1A2):c.693+1G>C
|
rs72656381
|
|
NM_000089.4(COL1A2):c.693+2T>C
|
rs66516450
|
|
NM_000089.4(COL1A2):c.694-1G>C
|
|
|
NM_000089.4(COL1A2):c.70+717A>G
|
rs72656354
|
|
NM_000089.4(COL1A2):c.731G>A (p.Gly244Asp)
|
rs1584318303
|
|
NM_000089.4(COL1A2):c.739G>C (p.Gly247Arg)
|
|
|
NM_000089.4(COL1A2):c.767G>A (p.Gly256Asp)
|
rs67525025
|
|
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val)
|
rs67525025
|
|
NM_000089.4(COL1A2):c.792G>A (p.Lys264=)
|
rs2115890442
|
|
NM_000089.4(COL1A2):c.793G>C (p.Gly265Arg)
|
rs1114167417
|
|
NM_000089.4(COL1A2):c.794G>A (p.Gly265Asp)
|
rs72656386
|
|
NM_000089.4(COL1A2):c.794G>T (p.Gly265Val)
|
rs72656386
|
|
NM_000089.4(COL1A2):c.812G>A (p.Gly271Asp)
|
|
|
NM_000089.4(COL1A2):c.821G>A (p.Gly274Asp)
|
rs67675951
|
|
NM_000089.4(COL1A2):c.830G>T (p.Gly277Val)
|
rs752431578
|
|
NM_000089.4(COL1A2):c.838G>T (p.Gly280Cys)
|
|
|
NM_000089.4(COL1A2):c.839G>C (p.Gly280Ala)
|
|
|
NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser)
|
rs1114167418
|
|
NM_000089.4(COL1A2):c.856G>T (p.Gly286Cys)
|
|
|
NM_000089.4(COL1A2):c.857G>C (p.Gly286Ala)
|
rs67210352
|
|
NM_000089.4(COL1A2):c.857_875del (p.Gly286fs)
|
rs1584319045
|
|
NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser)
|
rs906553840
|
|
NM_000089.4(COL1A2):c.874G>C (p.Gly292Arg)
|
rs906553840
|
|
NM_000089.4(COL1A2):c.874G>T (p.Gly292Cys)
|
rs906553840
|
|
NM_000089.4(COL1A2):c.875G>T (p.Gly292Val)
|
rs1131692167
|
|
NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser)
|
rs72656389
|
|
NM_000089.4(COL1A2):c.893G>T (p.Gly298Val)
|
|
|
NM_000089.4(COL1A2):c.901G>A (p.Gly301Arg)
|
rs2115893133
|
|
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)
|
rs1054264002
|
|
NM_000089.4(COL1A2):c.920G>A (p.Gly307Asp)
|
rs72656390
|
|
NM_000089.4(COL1A2):c.929G>T (p.Gly310Val)
|
|
|
NM_000089.4(COL1A2):c.937G>T (p.Gly313Cys)
|
|
|
NM_000089.4(COL1A2):c.956G>A (p.Gly319Glu)
|
rs1554396083
|
|
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)
|
rs72656394
|
|
NM_000089.4(COL1A2):c.974G>T (p.Gly325Val)
|
|
|
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)
|
rs66612022
|
|
NM_000090.3(COL3A1):c.1509+224_1510-71delinsNM_000090.3:c.799-118_852+62 (p.Lys503_Gly504insGFDGRNGEKGETGAPGLK)
|
|
|
NM_000090.3(COL3A1):c.1610delG
|
rs587779702
|
|
NM_000090.3(COL3A1):c.1763_1769delinsTAAG (p.Gly588_Pro590delinsValSer)
|
rs587779510
|
|
NM_000090.3(COL3A1):c.2608-?_3255+?del (p.Gly870_Pro1085del)
|
|
|
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG
|
|
|
NM_000090.3(COL3A1):c.[1786C>T;3851G>A]
|
|
|
NM_000090.3(COL3A1):c.[=/3426_3452del];[=/3440_3466del]
|
|
|
NM_000090.4(COL3A1):c.1033G>A (p.Gly345Arg)
|
rs587779419
|
|
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val)
|
rs587779498
|
|
NM_000090.4(COL3A1):c.1069_1070insACCCTGCAG (p.Ala356_Gly357insAspProAla)
|
rs587779579
|
|
NM_000090.4(COL3A1):c.1087G>A (p.Gly363Ser)
|
rs587779499
|
|
NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg)
|
rs587779696
|
|
NM_000090.4(COL3A1):c.1100_1117del (p.Gln367_Gly372del)
|
rs587779525
|
|
NM_000090.4(COL3A1):c.1103GAG[1] (p.Gly369del)
|
rs587779686
|
|
NM_000090.4(COL3A1):c.1115G>T (p.Gly372Val)
|
rs587779547
|
|
NM_000090.4(COL3A1):c.1124G>A (p.Gly375Glu)
|
rs587779569
|
|
NM_000090.4(COL3A1):c.1142G>A (p.Gly381Asp)
|
rs587779544
|
|
NM_000090.4(COL3A1):c.1149+1G>A
|
rs587779443
|
|
NM_000090.4(COL3A1):c.1149+1G>T
|
rs587779443
|
|
NM_000090.4(COL3A1):c.1149+5G>A
|
rs587779538
|
|
NM_000090.4(COL3A1):c.1150-1G>C
|
rs587779520
|
|
NM_000090.4(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC
|
rs587779612
|
|
NM_000090.4(COL3A1):c.117T>G (p.Tyr39Ter)
|
|
|
NM_000090.4(COL3A1):c.1189_1194+23del
|
rs587779430
|
|
NM_000090.4(COL3A1):c.1194+1G>A
|
rs587779459
|
|
NM_000090.4(COL3A1):c.1194+1G>C
|
rs587779459
|
|
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg)
|
rs587779534
|
|
NM_000090.4(COL3A1):c.1240G>T (p.Gly414Cys)
|
rs587779485
|
|
NM_000090.4(COL3A1):c.1249G>A (p.Gly417Arg)
|
rs587779637
|
|
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)
|
rs587779692
|
|
NM_000090.4(COL3A1):c.1267G>A (p.Gly423Ser)
|
rs587779631
|
|
NM_000090.4(COL3A1):c.1268G>A (p.Gly423Asp)
|
rs587779586
|
|
NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter)
|
rs1576465155
|
|
NM_000090.4(COL3A1):c.1294-3T>G
|
rs587779496
|
|
NM_000090.4(COL3A1):c.1330G>A (p.Gly444Arg)
|
rs587779489
|
|
NM_000090.4(COL3A1):c.1330G>C (p.Gly444Arg)
|
rs587779489
|
|
NM_000090.4(COL3A1):c.1347+1G>A
|
rs397509370
|
|
NM_000090.4(COL3A1):c.1347+1G>T
|
rs397509370
|
|
NM_000090.4(COL3A1):c.1347+3A>C
|
rs587779453
|
|
NM_000090.4(COL3A1):c.1347+5G>C
|
rs587779721
|
|
NM_000090.4(COL3A1):c.1348-2A>G
|
|
|
NM_000090.4(COL3A1):c.134G>A (p.Trp45Ter)
|
rs1559052609
|
|
NM_000090.4(COL3A1):c.1351G>A (p.Glu451Lys)
|
rs1559056438
|
|
NM_000090.4(COL3A1):c.1358G>A (p.Gly453Asp)
|
rs587779621
|
|
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser)
|
rs587779633
|
|
NM_000090.4(COL3A1):c.1410del (p.Gly471fs)
|
rs587779665
|
|
NM_000090.4(COL3A1):c.1442del (p.Ala481fs)
|
rs1688268302
|
|
NM_000090.4(COL3A1):c.1456-10T>G
|
rs587779701
|
|
NM_000090.4(COL3A1):c.1456-13_1499del
|
rs1553508025
|
|
NM_000090.4(COL3A1):c.1456-82_1977+177del
|
|
|
NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu)
|
rs587779476
|
|
NM_000090.4(COL3A1):c.1475G>A (p.Gly492Glu)
|
rs587779500
|
|
NM_000090.4(COL3A1):c.1475G>T (p.Gly492Val)
|
rs587779500
|
|
NM_000090.4(COL3A1):c.1501G>A (p.Gly501Arg)
|
rs587779523
|
|
NM_000090.4(COL3A1):c.1502G>A (p.Gly501Glu)
|
rs1559056621
|
|
NM_000090.4(COL3A1):c.150C>A (p.Cys50Ter)
|
|
|
NM_000090.4(COL3A1):c.1511G>T (p.Gly504Val)
|
rs587779632
|
|
NM_000090.4(COL3A1):c.1548dup (p.Pro517fs)
|
rs2153502552
|
|
NM_000090.4(COL3A1):c.1556G>A (p.Gly519Glu)
|
rs587779693
|
|
NM_000090.4(COL3A1):c.1609-2A>C
|
rs2153502611
|
|
NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg)
|
rs587779584
|
|
NM_000090.4(COL3A1):c.1646G>A (p.Gly549Glu)
|
rs587779679
|
|
NM_000090.4(COL3A1):c.1652del (p.Pro551fs)
|
rs1060500199
|
|
NM_000090.4(COL3A1):c.1654G>A (p.Gly552Arg)
|
rs1688305296
|
|
NM_000090.4(COL3A1):c.1655G>A (p.Gly552Glu)
|
rs121912928
|
|
NM_000090.4(COL3A1):c.1662+1G>A
|
rs587779535
|
|
NM_000090.4(COL3A1):c.1662+1G>C
|
rs587779535
|
|
NM_000090.4(COL3A1):c.1662+1G>T
|
rs587779535
|
|
NM_000090.4(COL3A1):c.1662+2dup
|
rs587779537
|
|
NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter)
|
rs375737772
|
|
NM_000090.4(COL3A1):c.1691G>A (p.Gly564Asp)
|
|
|
NM_000090.4(COL3A1):c.1701_2392-342del
|
|
|
NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)
|
|
|
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)
|
rs121912923
|
|
NM_000090.4(COL3A1):c.1744G>C (p.Gly582Arg)
|
rs121912923
|
|
NM_000090.4(COL3A1):c.1761+15_1870-100del
|
|
|
NM_000090.4(COL3A1):c.1761+1G>A
|
rs1688322811
|
|
NM_000090.4(COL3A1):c.1761+2T>C
|
rs587779530
|
|
NM_000090.4(COL3A1):c.1761+2T>G
|
rs587779530
|
|
NM_000090.4(COL3A1):c.1761+4_1761+5del
|
rs1559057346
|
|
NM_000090.4(COL3A1):c.1761+5G>A
|
rs397509372
|
|
NM_000090.4(COL3A1):c.1761+5G>T
|
rs397509372
|
|
NM_000090.4(COL3A1):c.1762-2A>G
|
rs587779722
|
|
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp)
|
rs587779691
|
|
NM_000090.4(COL3A1):c.1773dup (p.Lys592Ter)
|
rs587779608
|
|
NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter)
|
rs587779527
|
|
NM_000090.4(COL3A1):c.1808G>A (p.Gly603Asp)
|
rs587779477
|
|
NM_000090.4(COL3A1):c.1808G>T (p.Gly603Val)
|
rs587779477
|
|
NM_000090.4(COL3A1):c.1808del (p.Gly603fs)
|
rs587779594
|
|
NM_000090.4(COL3A1):c.1816G>C (p.Gly606Arg)
|
rs587779613
|
|
NM_000090.4(COL3A1):c.181del (p.Leu61fs)
|
rs2153501353
|
|
NM_000090.4(COL3A1):c.1831_1832del (p.Asn611fs)
|
rs587779462
|
|
NM_000090.4(COL3A1):c.1844G>A (p.Gly615Glu)
|
rs587779634
|
|
NM_000090.4(COL3A1):c.1859del (p.Pro620fs)
|
rs1576467144
|
|
NM_000090.4(COL3A1):c.1861G>C (p.Gly621Arg)
|
rs587779616
|
|
NM_000090.4(COL3A1):c.1861G>T (p.Gly621Trp)
|
rs587779616
|
|
NM_000090.4(COL3A1):c.1862G>A (p.Gly621Glu)
|
rs587779539
|
|
NM_000090.4(COL3A1):c.1862G>T (p.Gly621Val)
|
rs587779539
|
|
NM_000090.4(COL3A1):c.1869+1G>C
|
rs587779600
|
|
NM_000090.4(COL3A1):c.1869+5G>A
|
rs397509376
|
|
NM_000090.4(COL3A1):c.1869+5G>T
|
rs397509376
|
|
NM_000090.4(COL3A1):c.1870-2A>G
|
rs587779575
|
|
NM_000090.4(COL3A1):c.1870-2A>T
|
rs587779575
|
|
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu)
|
rs1553508463
|
|
NM_000090.4(COL3A1):c.1897G>A (p.Gly633Arg)
|
rs1553508473
|
|
NM_000090.4(COL3A1):c.1898G>A (p.Gly633Glu)
|
rs587779611
|
|
NM_000090.4(COL3A1):c.1905del (p.Gly636fs)
|
|
|
NM_000090.4(COL3A1):c.1906G>C (p.Gly636Arg)
|
rs587779522
|
|
NM_000090.4(COL3A1):c.1912_1913del (p.Gln638fs)
|
rs1576467391
|
|
NM_000090.4(COL3A1):c.1915G>A (p.Gly639Arg)
|
rs587779435
|
|
NM_000090.4(COL3A1):c.1915G>C (p.Gly639Arg)
|
rs587779435
|
|
NM_000090.4(COL3A1):c.1916G>A (p.Gly639Glu)
|
rs587779421
|
|
NM_000090.4(COL3A1):c.1923+1G>A
|
rs587779573
|
|
NM_000090.4(COL3A1):c.1923+1G>C
|
rs587779573
|
|
NM_000090.4(COL3A1):c.1923+2_1923+5del
|
rs786200946
|
|
NM_000090.4(COL3A1):c.1925G>T (p.Gly642Val)
|
rs587779661
|
|
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu)
|
rs587779620
|
|
NM_000090.4(COL3A1):c.1970G>A (p.Gly657Glu)
|
rs587779699
|
|
NM_000090.4(COL3A1):c.1974_1977+4del
|
rs587779475
|
|
NM_000090.4(COL3A1):c.1977+2T>G
|
rs587779603
|
|
NM_000090.4(COL3A1):c.1978-6_1981del
|
rs587779700
|
|
NM_000090.4(COL3A1):c.1979G>A (p.Gly660Asp)
|
rs587779493
|
|
NM_000090.4(COL3A1):c.1987G>C (p.Gly663Arg)
|
rs587779433
|
|
NM_000090.4(COL3A1):c.1988G>A (p.Gly663Asp)
|
rs587779454
|
|
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.2022+2T>C
|
rs587779429
|
|
NM_000090.4(COL3A1):c.2022G>A (p.Lys674=)
|
rs587779643
|
|
NM_000090.4(COL3A1):c.2022G>T (p.Lys674Asn)
|
rs587779643
|
|
NM_000090.4(COL3A1):c.2023-1G>A
|
rs587779708
|
|
NM_000090.4(COL3A1):c.2024G>T (p.Gly675Val)
|
rs587779597
|
|
NM_000090.4(COL3A1):c.2044G>A (p.Glu682Lys)
|
rs2153502995
|
|
NM_000090.4(COL3A1):c.2051G>A (p.Gly684Glu)
|
rs587779587
|
|
NM_000090.4(COL3A1):c.2051G>T (p.Gly684Val)
|
rs587779587
|
|
NM_000090.4(COL3A1):c.2059G>C (p.Gly687Arg)
|
rs587779577
|
|
NM_000090.4(COL3A1):c.2068G>A (p.Gly690Arg)
|
rs587779474
|
|
NM_000090.4(COL3A1):c.2069G>T (p.Gly690Val)
|
rs587779458
|
|
NM_000090.4(COL3A1):c.2078G>A (p.Gly693Glu)
|
|
|
NM_000090.4(COL3A1):c.2078G>C (p.Gly693Ala)
|
rs587779442
|
|
NM_000090.4(COL3A1):c.2078G>T (p.Gly693Val)
|
rs587779442
|
|
NM_000090.4(COL3A1):c.2087G>A (p.Gly696Asp)
|
rs587779591
|
|
NM_000090.4(COL3A1):c.2095G>C (p.Gly699Arg)
|
rs587779668
|
|
NM_000090.4(COL3A1):c.2096G>A (p.Gly699Asp)
|
rs587779706
|
|
NM_000090.4(COL3A1):c.2104G>A (p.Gly702Ser)
|
|
|
NM_000090.4(COL3A1):c.2105G>A (p.Gly702Asp)
|
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.2114G>A (p.Gly705Glu)
|
rs587779460
|
|
NM_000090.4(COL3A1):c.2121+1G>C
|
rs587779675
|
|
NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val)
|
rs111929073
|
|
NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser)
|
rs587779695
|
|
NM_000090.4(COL3A1):c.2134_2160del (p.Pro712_Gly720del)
|
rs587779560
|
|
NM_000090.4(COL3A1):c.2140G>A (p.Gly714Arg)
|
rs587779437
|
|
NM_000090.4(COL3A1):c.2141G>A (p.Gly714Glu)
|
rs587779678
|
|
NM_000090.4(COL3A1):c.2142_2168del (p.Pro715_Gly723del)
|
rs587779657
|
|
NM_000090.4(COL3A1):c.2150G>A (p.Gly717Asp)
|
rs587779549
|
|
NM_000090.4(COL3A1):c.2168G>A (p.Gly723Asp)
|
rs587779581
|
|
NM_000090.4(COL3A1):c.2176G>A (p.Gly726Arg)
|
rs587779638
|
|
NM_000090.4(COL3A1):c.2177G>A (p.Gly726Glu)
|
rs587779698
|
|
NM_000090.4(COL3A1):c.2185G>A (p.Gly729Arg)
|
rs587779543
|
|
NM_000090.4(COL3A1):c.2186G>A (p.Gly729Glu)
|
rs587779680
|
|
NM_000090.4(COL3A1):c.2188G>T (p.Glu730Ter)
|
|
|
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>A (p.Gly738Ser)
|
rs121912925
|
|
NM_000090.4(COL3A1):c.2212G>T (p.Gly738Cys)
|
rs121912925
|
|
NM_000090.4(COL3A1):c.2213G>T (p.Gly738Val)
|
rs587779615
|
|
NM_000090.4(COL3A1):c.2221G>A (p.Gly741Ser)
|
rs587779685
|
|
NM_000090.4(COL3A1):c.2222G>A (p.Gly741Asp)
|
rs553203474
|
|
NM_000090.4(COL3A1):c.2230G>C (p.Gly744Arg)
|
rs2153503061
|
|
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)
|
|
|
NM_000090.4(COL3A1):c.2231G>T (p.Gly744Val)
|
rs587779697
|
|
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu)
|
rs1576468562
|
|
NM_000090.4(COL3A1):c.2276G>A (p.Gly759Asp)
|
rs587779418
|
|
NM_000090.4(COL3A1):c.2284-108_3490del
|
|
|
NM_000090.4(COL3A1):c.2284-2A>G
|
rs587779558
|
|
NM_000090.4(COL3A1):c.2284-667_3256-44del
|
|
|
NM_000090.4(COL3A1):c.2284G>A (p.Gly762Ser)
|
rs587779694
|
|
NM_000090.4(COL3A1):c.2284G>C (p.Gly762Arg)
|
rs587779694
|
|
NM_000090.4(COL3A1):c.2285G>A (p.Gly762Asp)
|
rs587779541
|
|
NM_000090.4(COL3A1):c.2285G>T (p.Gly762Val)
|
rs587779541
|
|
NM_000090.4(COL3A1):c.2293G>A (p.Gly765Ser)
|
rs587779630
|
|
NM_000090.4(COL3A1):c.2294G>T (p.Gly765Val)
|
rs587779492
|
|
NM_000090.4(COL3A1):c.2337+1G>A
|
rs587779663
|
|
NM_000090.4(COL3A1):c.2337+2T>C
|
rs587779513
|
|
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=)
|
rs587779461
|
|
NM_000090.4(COL3A1):c.2337G>C (p.Lys779Asn)
|
|
|
NM_000090.4(COL3A1):c.2338-31_3040-194del
|
|
|
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg)
|
rs113485686
|
|
NM_000090.4(COL3A1):c.2357G>T (p.Gly786Val)
|
rs587779564
|
|
NM_000090.4(COL3A1):c.2392-3_2395del
|
rs1559059873
|
|
NM_000090.4(COL3A1):c.2398_2401del (p.Arg800fs)
|
|
|
NM_000090.4(COL3A1):c.2402G>A (p.Gly801Asp)
|
rs587779689
|
|
NM_000090.4(COL3A1):c.2437G>A (p.Gly813Ser)
|
rs397509369
|
|
NM_000090.4(COL3A1):c.2445+2dup
|
rs587779572
|
|
NM_000090.4(COL3A1):c.2445+5G>A
|
rs587779636
|
|
NM_000090.4(COL3A1):c.2482G>T (p.Gly828Trp)
|
rs587779486
|
|
NM_000090.4(COL3A1):c.2490_2516del (p.Glu832_Gly840del)
|
rs397509374
|
|
NM_000090.4(COL3A1):c.2494G>T (p.Glu832Ter)
|
rs1460396340
|
|
NM_000090.4(COL3A1):c.2501G>A (p.Gly834Asp)
|
rs587779642
|
|
NM_000090.4(COL3A1):c.2510G>A (p.Gly837Asp)
|
rs587779526
|
|
NM_000090.4(COL3A1):c.2534dup (p.Gly846fs)
|
rs587779653
|
|
NM_000090.4(COL3A1):c.2553+1G>A
|
rs587779664
|
|
NM_000090.4(COL3A1):c.2553+1G>C
|
rs587779664
|
|
NM_000090.4(COL3A1):c.2553+1del
|
rs587779514
|
|
NM_000090.4(COL3A1):c.2553+2T>C
|
rs587779684
|
|
NM_000090.4(COL3A1):c.2553+3A>T
|
rs587779713
|
|
NM_000090.4(COL3A1):c.2553+5G>T
|
rs397509371
|
|
NM_000090.4(COL3A1):c.2554-1G>A
|
rs587779519
|
|
NM_000090.4(COL3A1):c.2554G>T (p.Gly852Cys)
|
rs587779690
|
|
NM_000090.4(COL3A1):c.2555G>A (p.Gly852Asp)
|
rs587779494
|
|
NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys)
|
rs2153503430
|
|
NM_000090.4(COL3A1):c.2564G>A (p.Gly855Asp)
|
rs587779466
|
|
NM_000090.4(COL3A1):c.2569C>T (p.Gln857Ter)
|
rs1559060412
|
|
NM_000090.4(COL3A1):c.2573G>T (p.Gly858Val)
|
rs587779717
|
|
NM_000090.4(COL3A1):c.2600G>A (p.Gly867Asp)
|
rs587779417
|
|
NM_000090.4(COL3A1):c.2607+5G>A
|
rs587779457
|
|
NM_000090.4(COL3A1):c.2607+5G>T
|
rs587779457
|
|
NM_000090.4(COL3A1):c.2636G>T (p.Gly879Val)
|
rs587779645
|
|
NM_000090.4(COL3A1):c.2645G>A (p.Gly882Asp)
|
rs587779622
|
|
NM_000090.4(COL3A1):c.2655_2661+7delinsGACCTGAGAC
|
rs587779590
|
|
NM_000090.4(COL3A1):c.2672G>A (p.Gly891Glu)
|
rs1688528616
|
|
NM_000090.4(COL3A1):c.2681G>C (p.Gly894Ala)
|
rs587779589
|
|
NM_000090.4(COL3A1):c.2699G>A (p.Gly900Asp)
|
rs587779599
|
|
NM_000090.4(COL3A1):c.2708G>A (p.Gly903Glu)
|
rs587779505
|
|
NM_000090.4(COL3A1):c.2726G>T (p.Gly909Val)
|
rs587779483
|
|
NM_000090.4(COL3A1):c.2735G>A (p.Gly912Asp)
|
rs587779716
|
|
NM_000090.4(COL3A1):c.2753G>A (p.Gly918Glu)
|
rs587779662
|
|
NM_000090.4(COL3A1):c.2770G>A (p.Gly924Ser)
|
rs587779471
|
|
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.2771G>T (p.Gly924Val)
|
rs587779450
|
|
NM_000090.4(COL3A1):c.2780G>A (p.Gly927Asp)
|
rs587779432
|
|
NM_000090.4(COL3A1):c.2801del (p.Ser934fs)
|
|
|
NM_000090.4(COL3A1):c.2806G>C (p.Gly936Arg)
|
rs587779566
|
|
NM_000090.4(COL3A1):c.2815G>A (p.Gly939Ser)
|
rs587779550
|
|
NM_000090.4(COL3A1):c.2815G>T (p.Gly939Cys)
|
rs587779550
|
|
NM_000090.4(COL3A1):c.2823+1G>A
|
rs587779424
|
|
NM_000090.4(COL3A1):c.2824-1G>A
|
rs587779617
|
|
NM_000090.4(COL3A1):c.2824G>A (p.Gly942Arg)
|
rs587779438
|
|
NM_000090.4(COL3A1):c.2825G>A (p.Gly942Glu)
|
rs587779517
|
|
NM_000090.4(COL3A1):c.2828del (p.Ala943fs)
|
rs1553509208
|
|
NM_000090.4(COL3A1):c.2833G>A (p.Gly945Ser)
|
rs587779567
|
|
NM_000090.4(COL3A1):c.2842G>A (p.Gly948Arg)
|
rs587779447
|
|
NM_000090.4(COL3A1):c.2860G>A (p.Gly954Arg)
|
rs587779674
|
|
NM_000090.4(COL3A1):c.2861G>A (p.Gly954Glu)
|
rs587779434
|
|
NM_000090.4(COL3A1):c.2869G>A (p.Gly957Ser)
|
rs121912913
|
|
NM_000090.4(COL3A1):c.2869G>T (p.Gly957Cys)
|
rs121912913
|
|
NM_000090.4(COL3A1):c.2870G>A (p.Gly957Asp)
|
rs587779654
|
|
NM_000090.4(COL3A1):c.2870G>T (p.Gly957Val)
|
rs587779654
|
|
NM_000090.4(COL3A1):c.2879G>T (p.Gly960Val)
|
rs121912922
|
|
NM_000090.4(COL3A1):c.2887G>C (p.Gly963Arg)
|
rs587779640
|
|
NM_000090.4(COL3A1):c.2887G>T (p.Gly963Cys)
|
rs587779640
|
|
NM_000090.4(COL3A1):c.2888G>A (p.Gly963Asp)
|
rs587779511
|
|
NM_000090.4(COL3A1):c.2888G>T (p.Gly963Val)
|
rs587779511
|
|
NM_000090.4(COL3A1):c.2888del (p.Gly963fs)
|
|
|
NM_000090.4(COL3A1):c.2897G>T (p.Gly966Val)
|
rs587779571
|
|
NM_000090.4(COL3A1):c.2905G>A (p.Gly969Arg)
|
rs587779580
|
|
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser)
|
rs587779723
|
|
NM_000090.4(COL3A1):c.2915G>A (p.Gly972Asp)
|
rs587779559
|
|
NM_000090.4(COL3A1):c.2915G>C (p.Gly972Ala)
|
rs587779559
|
|
NM_000090.4(COL3A1):c.2924G>T (p.Gly975Val)
|
rs587779542
|
|
NM_000090.4(COL3A1):c.2931+1G>A
|
rs397509373
|
|
NM_000090.4(COL3A1):c.2932G>A (p.Gly978Ser)
|
rs1688561706
|
|
NM_000090.4(COL3A1):c.2933G>A (p.Gly978Asp)
|
rs587779595
|
|
NM_000090.4(COL3A1):c.2935G>T (p.Glu979Ter)
|
rs587779488
|
|
NM_000090.4(COL3A1):c.2941G>A (p.Gly981Arg)
|
rs587779449
|
|
NM_000090.4(COL3A1):c.2941G>C (p.Gly981Arg)
|
rs587779449
|
|
NM_000090.4(COL3A1):c.2950_2951delinsAC (p.Gly984Thr)
|
rs1559061242
|
|
NM_000090.4(COL3A1):c.2955_2958dup (p.Gly987Ter)
|
rs2153503632
|
|
NM_000090.4(COL3A1):c.2959G>A (p.Gly987Ser)
|
rs587779583
|
|
NM_000090.4(COL3A1):c.2977G>T (p.Gly993Cys)
|
rs587779416
|
|
NM_000090.4(COL3A1):c.2978G>A (p.Gly993Asp)
|
rs587779456
|
|
NM_000090.4(COL3A1):c.2987G>A (p.Gly996Glu)
|
rs587779576
|
|
NM_000090.4(COL3A1):c.2995G>A (p.Gly999Ser)
|
rs587779548
|
|
NM_000090.4(COL3A1):c.2995G>C (p.Gly999Arg)
|
rs587779548
|
|
NM_000090.4(COL3A1):c.2996G>A (p.Gly999Asp)
|
|
|
NM_000090.4(COL3A1):c.3023G>A (p.Gly1008Asp)
|
rs587779659
|
|
NM_000090.4(COL3A1):c.3025G>T (p.Glu1009Ter)
|
|
|
NM_000090.4(COL3A1):c.3032G>A (p.Gly1011Glu)
|
rs587779552
|
|
NM_000090.4(COL3A1):c.3039+154_3525+223del
|
|
|
NM_000090.4(COL3A1):c.3039+1G>A
|
rs587779506
|
|
NM_000090.4(COL3A1):c.3039+5G>A
|
rs587779568
|
|
NM_000090.4(COL3A1):c.3039+6T>C
|
rs587779532
|
|
NM_000090.4(COL3A1):c.3040-127_3255+107del
|
|
|
NM_000090.4(COL3A1):c.3041G>A (p.Gly1014Glu)
|
rs121912916
|
|
NM_000090.4(COL3A1):c.3062_3064del (p.Leu1021del)
|
rs587779529
|
|
NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter)
|
rs587779479
|
|
NM_000090.4(COL3A1):c.3093+1G>A
|
rs869312034
|
|
NM_000090.4(COL3A1):c.3093+1G>T
|
rs869312034
|
|
NM_000090.4(COL3A1):c.3093+2T>C
|
rs587779503
|
|
NM_000090.4(COL3A1):c.3093+2T>G
|
rs587779503
|
|
NM_000090.4(COL3A1):c.3095G>T (p.Gly1032Val)
|
rs587779428
|
|
NM_000090.4(COL3A1):c.30G>A (p.Trp10Ter)
|
rs587779677
|
|
NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys)
|
rs587779704
|
|
NM_000090.4(COL3A1):c.3104G>T (p.Gly1035Val)
|
rs587779582
|
|
NM_000090.4(COL3A1):c.3122G>T (p.Gly1041Val)
|
rs587779491
|
|
NM_000090.4(COL3A1):c.3140G>A (p.Gly1047Asp)
|
rs587779545
|
|
NM_000090.4(COL3A1):c.3149G>A (p.Gly1050Asp)
|
rs121912914
|
|
NM_000090.4(COL3A1):c.3149G>T (p.Gly1050Val)
|
rs121912914
|
|
NM_000090.4(COL3A1):c.3157G>C (p.Gly1053Arg)
|
rs587779651
|
|
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.3176G>T (p.Gly1059Val)
|
rs587779619
|
|
NM_000090.4(COL3A1):c.318_325del (p.Pro107fs)
|
rs2153501416
|
|
NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg)
|
rs587779563
|
|
NM_000090.4(COL3A1):c.3194G>A (p.Gly1065Glu)
|
rs1553509430
|
|
NM_000090.4(COL3A1):c.3202-2A>G
|
rs587779682
|
|
NM_000090.4(COL3A1):c.3203G>T (p.Gly1068Val)
|
rs587779551
|
|
NM_000090.4(COL3A1):c.3204CCCTGCTGG[1] (p.1069PAG[1])
|
rs771791598
|
|
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val)
|
rs587779709
|
|
NM_000090.4(COL3A1):c.3220G>A (p.Gly1074Ser)
|
rs587779554
|
|
NM_000090.4(COL3A1):c.3223_3240del (p.Ala1075_Gly1080del)
|
rs587779509
|
|
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser)
|
rs886038892
|
|
NM_000090.4(COL3A1):c.3230G>T (p.Gly1077Val)
|
rs121912915
|
|
NM_000090.4(COL3A1):c.3239G>A (p.Gly1080Asp)
|
rs587779469
|
|
NM_000090.4(COL3A1):c.3244C>T (p.Arg1082Ter)
|
|
|
NM_000090.4(COL3A1):c.3255+1G>A
|
rs587779480
|
|
NM_000090.4(COL3A1):c.3255+1G>C
|
rs587779480
|
|
NM_000090.4(COL3A1):c.3255+5G>A
|
rs587779501
|
|
NM_000090.4(COL3A1):c.3256-43T>G
|
rs587779667
|
|
NM_000090.4(COL3A1):c.3257G>T (p.Gly1086Val)
|
rs1060500203
|
|
NM_000090.4(COL3A1):c.3262C>T (p.Gln1088Ter)
|
rs1328301317
|
|
NM_000090.4(COL3A1):c.3266G>A (p.Gly1089Asp)
|
rs587779672
|
|
NM_000090.4(COL3A1):c.3274G>T (p.Gly1092Cys)
|
rs2153503888
|
|
NM_000090.4(COL3A1):c.3275G>T (p.Gly1092Val)
|
rs587779666
|
|
NM_000090.4(COL3A1):c.3284G>A (p.Gly1095Asp)
|
rs587779610
|
|
NM_000090.4(COL3A1):c.3284G>T (p.Gly1095Val)
|
rs587779610
|
|
NM_000090.4(COL3A1):c.3290_3291del (p.Thr1097fs)
|
rs2153503895
|
|
NM_000090.4(COL3A1):c.3293G>T (p.Gly1098Val)
|
rs587779614
|
|
NM_000090.4(COL3A1):c.3301G>A (p.Gly1101Arg)
|
rs587779439
|
|
NM_000090.4(COL3A1):c.3302G>A (p.Gly1101Glu)
|
rs121912924
|
|
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.3347G>T (p.Gly1116Val)
|
rs587779445
|
|
NM_000090.4(COL3A1):c.3356G>A (p.Gly1119Asp)
|
rs587779639
|
|
NM_000090.4(COL3A1):c.3364-2A>C
|
rs587779546
|
|
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser)
|
rs587779536
|
|
NM_000090.4(COL3A1):c.3410G>A (p.Gly1137Asp)
|
rs587779720
|
|
NM_000090.4(COL3A1):c.3417+1G>A
|
rs587779444
|
|
NM_000090.4(COL3A1):c.3417+1G>C
|
rs587779444
|
|
NM_000090.4(COL3A1):c.3417+1G>T
|
rs587779444
|
|
NM_000090.4(COL3A1):c.3417+2T>C
|
|
|
NM_000090.4(COL3A1):c.3417+4_3417+5del
|
rs1553509630
|
|
NM_000090.4(COL3A1):c.3417+5G>A
|
rs587779448
|
|
NM_000090.4(COL3A1):c.3418-1G>T
|
rs587779562
|
|
NM_000090.4(COL3A1):c.3418-2A>G
|
rs587779502
|
|
NM_000090.4(COL3A1):c.3418-2A>T
|
rs587779502
|
|
NM_000090.4(COL3A1):c.3419G>A (p.Gly1140Glu)
|
rs587779648
|
|
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu)
|
rs587779495
|
|
NM_000090.4(COL3A1):c.3437del (p.Gly1146fs)
|
|
|
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs)
|
rs2153503975
|
|
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg)
|
rs587779715
|
|
NM_000090.4(COL3A1):c.3473G>A (p.Gly1158Asp)
|
rs587779472
|
|
NM_000090.4(COL3A1):c.3482G>A (p.Gly1161Glu)
|
rs587779473
|
|
NM_000090.4(COL3A1):c.3482G>T (p.Gly1161Val)
|
rs587779473
|
|
NM_000090.4(COL3A1):c.3490G>A (p.Gly1164Arg)
|
rs587779553
|
|
NM_000090.4(COL3A1):c.3490G>C (p.Gly1164Arg)
|
rs587779553
|
|
NM_000090.4(COL3A1):c.3490G>T (p.Gly1164Trp)
|
rs587779553
|
|
NM_000090.4(COL3A1):c.3491G>A (p.Gly1164Glu)
|
rs587779431
|
|
NM_000090.4(COL3A1):c.3491G>T (p.Gly1164Val)
|
rs587779431
|
|
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.3500G>T (p.Gly1167Val)
|
rs587779578
|
|
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser)
|
rs587779482
|
|
NM_000090.4(COL3A1):c.3509G>A (p.Gly1170Asp)
|
rs587779465
|
|
NM_000090.4(COL3A1):c.3509G>T (p.Gly1170Val)
|
rs587779465
|
|
NM_000090.4(COL3A1):c.3517G>A (p.Gly1173Arg)
|
rs587779521
|
|
NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu)
|
rs121912918
|
|
NM_000090.4(COL3A1):c.3518G>T (p.Gly1173Val)
|
rs121912918
|
|
NM_000090.4(COL3A1):c.3527G>A (p.Gly1176Asp)
|
rs1553509726
|
|
NM_000090.4(COL3A1):c.3527_3528delinsAA (p.Gly1176Glu)
|
rs587779669
|
|
NM_000090.4(COL3A1):c.3535G>C (p.Gly1179Arg)
|
rs587779574
|
|
NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val)
|
rs587779627
|
|
NM_000090.4(COL3A1):c.3544G>A (p.Gly1182Arg)
|
rs587779683
|
|
NM_000090.4(COL3A1):c.3545G>A (p.Gly1182Glu)
|
rs111505097
|
|
NM_000090.4(COL3A1):c.3545G>T (p.Gly1182Val)
|
rs111505097
|
|
NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp)
|
rs121912917
|
|
NM_000090.4(COL3A1):c.3554G>T (p.Gly1185Val)
|
rs121912917
|
|
NM_000090.4(COL3A1):c.3562G>A (p.Gly1188Arg)
|
rs587779504
|
|
NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu)
|
rs112456072
|
|
NM_000090.4(COL3A1):c.3572G>A (p.Gly1191Asp)
|
rs587779703
|
|
NM_000090.4(COL3A1):c.3575_3576insAGGG (p.Pro1193fs)
|
rs587779712
|
|
NM_000090.4(COL3A1):c.3737_3740del (p.Glu1246fs)
|
rs1688663336
|
|
NM_000090.4(COL3A1):c.3833G>A (p.Trp1278Ter)
|
rs1060500187
|
|
NM_000090.4(COL3A1):c.3847C>T (p.Gln1283Ter)
|
rs587779467
|
|
NM_000090.4(COL3A1):c.3863A>T (p.Asp1288Val)
|
rs587779658
|
|
NM_000090.4(COL3A1):c.3966del (p.Lys1323fs)
|
rs587779490
|
|
NM_000090.4(COL3A1):c.3989del (p.Glu1330fs)
|
rs587779647
|
|
NM_000090.4(COL3A1):c.4008dup (p.Gln1337fs)
|
|
|
NM_000090.4(COL3A1):c.4011+1G>A
|
|
|
NM_000090.4(COL3A1):c.4011+1G>T
|
rs112532745
|
|
NM_000090.4(COL3A1):c.406G>C (p.Gly136Arg)
|
rs387906557
|
|
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter)
|
rs794728057
|
|
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)
|
rs794728060
|
|
NM_000090.4(COL3A1):c.413del (p.Pro138fs)
|
rs587779707
|
|
NM_000090.4(COL3A1):c.413dup (p.Gly139fs)
|
rs587779707
|
|
NM_000090.4(COL3A1):c.4226_4233del (p.Thr1409fs)
|
|
|
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=)
|
rs587779565
|
|
NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter)
|
rs1553510000
|
|
NM_000090.4(COL3A1):c.4271G>A (p.Trp1424Ter)
|
|
|
NM_000090.4(COL3A1):c.4286_4287del (p.Val1428_Phe1429insTer)
|
rs587779719
|
|
NM_000090.4(COL3A1):c.4294C>T (p.Arg1432Ter)
|
rs587779585
|
|
NM_000090.4(COL3A1):c.4323dup (p.Val1442fs)
|
rs1688730568
|
|
NM_000090.4(COL3A1):c.4360C>T (p.Gln1454Ter)
|
rs1576474929
|
|
NM_000090.4(COL3A1):c.4399T>C (p.Ter1467Gln)
|
rs587779618
|
|
NM_000090.4(COL3A1):c.4del (p.Met1_Met2insTer)
|
|
|
NM_000090.4(COL3A1):c.500dup (p.Gly168fs)
|
|
|
NM_000090.4(COL3A1):c.539G>A (p.Gly180Asp)
|
rs587779714
|
|
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)
|
rs121912926
|
|
NM_000090.4(COL3A1):c.547G>C (p.Gly183Arg)
|
rs121912926
|
|
NM_000090.4(COL3A1):c.547G>T (p.Gly183Cys)
|
rs121912926
|
|
NM_000090.4(COL3A1):c.548G>A (p.Gly183Asp)
|
rs587779420
|
|
NM_000090.4(COL3A1):c.548G>C (p.Gly183Ala)
|
rs587779420
|
|
NM_000090.4(COL3A1):c.548G>T (p.Gly183Val)
|
rs587779420
|
|
NM_000090.4(COL3A1):c.555del (p.Gly186fs)
|
rs587779451
|
|
NM_000090.4(COL3A1):c.556G>A (p.Gly186Ser)
|
rs587779446
|
|
NM_000090.4(COL3A1):c.565G>C (p.Gly189Arg)
|
rs587779507
|
|
NM_000090.4(COL3A1):c.575G>T (p.Gly192Val)
|
rs587779710
|
|
NM_000090.4(COL3A1):c.582+1G>C
|
rs587779508
|
|
NM_000090.4(COL3A1):c.582+2dup
|
rs587779524
|
|
NM_000090.4(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC
|
|
|
NM_000090.4(COL3A1):c.582+5G>A
|
rs587779671
|
|
NM_000090.4(COL3A1):c.582+5G>T
|
rs587779671
|
|
NM_000090.4(COL3A1):c.582+5_582+11delinsACA
|
rs1559053784
|
|
NM_000090.4(COL3A1):c.582+6T>A
|
rs397509375
|
|
NM_000090.4(COL3A1):c.582+6T>C
|
rs397509375
|
|
NM_000090.4(COL3A1):c.583G>A (p.Gly195Arg)
|
rs267599120
|
|
NM_000090.4(COL3A1):c.583G>C (p.Gly195Arg)
|
rs267599120
|
|
NM_000090.4(COL3A1):c.592G>A (p.Gly198Arg)
|
rs587779601
|
|
NM_000090.4(COL3A1):c.593G>A (p.Gly198Glu)
|
rs587779641
|
|
NM_000090.4(COL3A1):c.601G>C (p.Gly201Arg)
|
rs587779436
|
|
NM_000090.4(COL3A1):c.608del (p.Pro203fs)
|
rs1553507265
|
|
NM_000090.4(COL3A1):c.610G>A (p.Gly204Ser)
|
rs587779711
|
|
NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp)
|
rs587779626
|
|
NM_000090.4(COL3A1):c.615_629dup (p.Gly207_Pro211dup)
|
rs587779628
|
|
NM_000090.4(COL3A1):c.619G>A (p.Gly207Arg)
|
|
|
NM_000090.4(COL3A1):c.619G>T (p.Gly207Trp)
|
rs1553507274
|
|
NM_000090.4(COL3A1):c.620G>T (p.Gly207Val)
|
rs587779592
|
|
NM_000090.4(COL3A1):c.629G>T (p.Gly210Val)
|
rs587779515
|
|
NM_000090.4(COL3A1):c.631_636+6delinsTACTAAATATA
|
rs587779681
|
|
NM_000090.4(COL3A1):c.636+1G>A
|
rs587779676
|
|
NM_000090.4(COL3A1):c.636+5G>A
|
rs587779688
|
|
NM_000090.4(COL3A1):c.637G>A (p.Gly213Ser)
|
rs587779557
|
|
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.648_665del (p.Pro218_Pro223del)
|
rs2153501869
|
|
NM_000090.4(COL3A1):c.650_1663-83del
|
|
|
NM_000090.4(COL3A1):c.655G>T (p.Gly219Cys)
|
rs587779624
|
|
NM_000090.4(COL3A1):c.656G>A (p.Gly219Asp)
|
rs587779441
|
|
NM_000090.4(COL3A1):c.656G>C (p.Gly219Ala)
|
rs587779441
|
|
NM_000090.4(COL3A1):c.662_663dup (p.Gly222Ter)
|
|
|
NM_000090.4(COL3A1):c.665G>A (p.Gly222Asp)
|
rs587779518
|
|
NM_000090.4(COL3A1):c.665G>T (p.Gly222Val)
|
rs587779518
|
|
NM_000090.4(COL3A1):c.674G>A (p.Gly225Asp)
|
rs587779533
|
|
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala)
|
rs587779533
|
|
NM_000090.4(COL3A1):c.674G>T (p.Gly225Val)
|
rs587779533
|
|
NM_000090.4(COL3A1):c.682G>C (p.Gly228Arg)
|
rs587779470
|
|
NM_000090.4(COL3A1):c.683G>A (p.Gly228Glu)
|
rs587779555
|
|
NM_000090.4(COL3A1):c.690+1G>A
|
rs587779660
|
|
NM_000090.4(COL3A1):c.690+2T>A
|
rs587779497
|
|
NM_000090.4(COL3A1):c.690+2T>G
|
rs587779497
|
|
NM_000090.4(COL3A1):c.691-1G>A
|
|
|
NM_000090.4(COL3A1):c.691-2A>G
|
rs1576463100
|
|
NM_000090.4(COL3A1):c.698C>G (p.Ser233Ter)
|
rs2153501942
|
|
NM_000090.4(COL3A1):c.701G>A (p.Gly234Asp)
|
rs587779656
|
|
NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg)
|
rs587779625
|
|
NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter)
|
rs1393544920
|
|
NM_000090.4(COL3A1):c.718G>C (p.Gly240Arg)
|
rs587779468
|
|
NM_000090.4(COL3A1):c.728G>A (p.Gly243Glu)
|
rs587779629
|
|
NM_000090.4(COL3A1):c.728G>T (p.Gly243Val)
|
rs587779629
|
|
NM_000090.4(COL3A1):c.737G>A (p.Gly246Glu)
|
rs587779570
|
|
NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp)
|
rs121912927
|
|
NM_000090.4(COL3A1):c.746G>T (p.Gly249Val)
|
rs121912927
|
|
NM_000090.4(COL3A1):c.754G>A (p.Gly252Ser)
|
|
|
NM_000090.4(COL3A1):c.754G>C (p.Gly252Arg)
|
rs587779705
|
|
NM_000090.4(COL3A1):c.755G>A (p.Gly252Asp)
|
rs587779464
|
|
NM_000090.4(COL3A1):c.755G>T (p.Gly252Val)
|
rs587779464
|
|
NM_000090.4(COL3A1):c.764G>A (p.Gly255Glu)
|
rs587779605
|
|
NM_000090.4(COL3A1):c.764G>T (p.Gly255Val)
|
rs587779605
|
|
NM_000090.4(COL3A1):c.766del (p.Ile256fs)
|
rs587779455
|
|
NM_000090.4(COL3A1):c.782G>A (p.Gly261Asp)
|
rs587779635
|
|
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu)
|
rs587779604
|
|
NM_000090.4(COL3A1):c.798+1G>A
|
rs587779463
|
|
NM_000090.4(COL3A1):c.799G>A (p.Gly267Ser)
|
rs587779718
|
|
NM_000090.4(COL3A1):c.800G>T (p.Gly267Val)
|
rs587779427
|
|
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu)
|
rs587779478
|
|
NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter)
|
rs1057521106
|
|
NM_000090.4(COL3A1):c.817G>T (p.Gly273Ter)
|
rs2153502051
|
|
NM_000090.4(COL3A1):c.81del (p.Val28fs)
|
rs1060500200
|
|
NM_000090.4(COL3A1):c.826G>A (p.Gly276Ser)
|
rs1576463632
|
|
NM_000090.4(COL3A1):c.827G>A (p.Gly276Asp)
|
rs587779644
|
|
NM_000090.4(COL3A1):c.836G>A (p.Gly279Asp)
|
rs587779593
|
|
NM_000090.4(COL3A1):c.844G>A (p.Gly282Arg)
|
rs587779531
|
|
NM_000090.4(COL3A1):c.845G>T (p.Gly282Val)
|
rs1576463663
|
|
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg)
|
rs1553507557
|
|
NM_000090.4(COL3A1):c.898-1G>C
|
rs587779556
|
|
NM_000090.4(COL3A1):c.898G>C (p.Gly300Arg)
|
rs587779481
|
|
NM_000090.4(COL3A1):c.899G>A (p.Gly300Asp)
|
rs587779440
|
|
NM_000090.4(COL3A1):c.899G>T (p.Gly300Val)
|
rs587779440
|
|
NM_000090.4(COL3A1):c.907G>A (p.Gly303Arg)
|
rs121912919
|
|
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.951+1G>A
|
rs587779652
|
|
NM_000090.4(COL3A1):c.951+2T>A
|
rs587779426
|
|
NM_000090.4(COL3A1):c.951+2T>C
|
rs587779426
|
|
NM_000090.4(COL3A1):c.951+3G>T
|
rs587779452
|
|
NM_000090.4(COL3A1):c.951+4A>T
|
rs587779598
|
|
NM_000090.4(COL3A1):c.951+4_951+5del
|
rs1559055162
|
|
NM_000090.4(COL3A1):c.951+5G>A
|
rs587779422
|
|
NM_000090.4(COL3A1):c.951+6T>A
|
rs587779423
|
|
NM_000090.4(COL3A1):c.951+6T>C
|
rs587779423
|
|
NM_000090.4(COL3A1):c.951_951+14del
|
rs587779425
|
|
NM_000090.4(COL3A1):c.952-2del
|
rs2153502163
|
|
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)
|
rs1553507614
|
|
NM_000090.4(COL3A1):c.955_974delinsTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319fs)
|
rs587779655
|
|
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.976C>T (p.Arg326Ter)
|
rs587779607
|
|
NM_000090.4(COL3A1):c.996+1G>A
|
rs587779516
|
|
NM_000090.4(COL3A1):c.996+2T>A
|
rs587779649
|
|
NM_000090.4(COL3A1):c.997-10A>G
|
rs587779670
|
|
NM_000090.4(COL3A1):c.997-1G>C
|
rs587779687
|
|
NM_000090.4(COL3A1):c.997-2A>G
|
rs587779602
|
|
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp)
|
rs587779673
|
|
NM_000093.4(COL5A1):c.2389delG
|
rs1564453833
|
|
NM_000093.4(COL5A1):c.2594dup
|
rs1837444858
|
|
NM_000093.4(COL5A1):c.3369_3431dup
|
rs1838416489
|
|
NM_000093.4(COL5A1):c.3746delG
|
rs35002351
|
|
NM_000093.4(COL5A1):c.4232delG
|
rs1060502259
|
|
NM_000093.4(COL5A1):c.4339-1delG
|
rs786205102
|
|
NM_000093.5(COL5A1):c.105del (p.Ala36fs)
|
rs2132455125
|
|
NM_000093.5(COL5A1):c.1075G>T (p.Glu359Ter)
|
rs769752636
|
|
NM_000093.5(COL5A1):c.1094_1095del (p.Asp365fs)
|
rs1834837756
|
|
NM_000093.5(COL5A1):c.109G>C (p.Ala37Pro)
|
rs2132455136
|
|
NM_000093.5(COL5A1):c.1114_1115del (p.Ala372fs)
|
|
|
NM_000093.5(COL5A1):c.1194_1196delinsG (p.Asp398fs)
|
rs1834879370
|
|
NM_000093.5(COL5A1):c.1364del (p.Lys455fs)
|
rs1564418237
|
|
NM_000093.5(COL5A1):c.1502del (p.Pro501fs)
|
rs1085307855
|
|
NM_000093.5(COL5A1):c.1503del (p.Gly502fs)
|
rs1554792011
|
|
NM_000093.5(COL5A1):c.1611dup (p.Met538fs)
|
|
|
NM_000093.5(COL5A1):c.1628_1630dup (p.Ser544Ter)
|
rs2132683271
|
|
NM_000093.5(COL5A1):c.1630del (p.Ser544fs)
|
rs2132683277
|
|
NM_000093.5(COL5A1):c.1639C>T (p.Gln547Ter)
|
rs201625736
|
|
NM_000093.5(COL5A1):c.1654C>T (p.Gln552Ter)
|
|
|
NM_000093.5(COL5A1):c.1720-136_1929del
|
|
|
NM_000093.5(COL5A1):c.1727del (p.Pro576fs)
|
rs1488498065
|
|
NM_000093.5(COL5A1):c.1728del (p.Ser578fs)
|
rs2132689832
|
|
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter)
|
rs1554792869
|
|
NM_000093.5(COL5A1):c.1789C>T (p.Gln597Ter)
|
rs2132690786
|
|
NM_000093.5(COL5A1):c.1937_1946del
|
rs2132717812
|
|
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)
|
rs1833258579
|
|
NM_000093.5(COL5A1):c.1989+1G>C
|
rs1836462685
|
|
NM_000093.5(COL5A1):c.1A>G (p.Met1Val)
|
rs2132454722
|
|
NM_000093.5(COL5A1):c.2034+1G>A
|
rs886042173
|
|
NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter)
|
rs1554796176
|
|
NM_000093.5(COL5A1):c.2143G>T (p.Gly715Ter)
|
rs1060502258
|
|
NM_000093.5(COL5A1):c.2153del (p.Gly718fs)
|
rs2132728639
|
|
NM_000093.5(COL5A1):c.2159del (p.Pro720fs)
|
rs863223469
|
|
NM_000093.5(COL5A1):c.2159dup (p.Gly721fs)
|
rs863223469
|
|
NM_000093.5(COL5A1):c.2164C>T (p.Gln722Ter)
|
rs1564446117
|
|
NM_000093.5(COL5A1):c.2177del (p.Pro726fs)
|
|
|
NM_000093.5(COL5A1):c.2203dup (p.Gln735fs)
|
rs1057519596
|
|
NM_000093.5(COL5A1):c.225_226del (p.Tyr75_Arg76delinsTer)
|
|
|
NM_000093.5(COL5A1):c.228_229del (p.Arg76fs)
|
rs1060502242
|
|
NM_000093.5(COL5A1):c.2312delinsTGGCAAAGA (p.Pro771fs)
|
|
|
NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter)
|
rs121912933
|
|
NM_000093.5(COL5A1):c.2386-3C>G
|
rs1564453831
|
|
NM_000093.5(COL5A1):c.2425G>T (p.Glu809Ter)
|
rs1032017865
|
|
NM_000093.5(COL5A1):c.2430+1G>A
|
rs1060502248
|
|
NM_000093.5(COL5A1):c.2430+1G>C
|
|
|
NM_000093.5(COL5A1):c.2553del (p.Asn852fs)
|
rs1837406273
|
|
NM_000093.5(COL5A1):c.2565del (p.Gly856fs)
|
rs1564457102
|
|
NM_000093.5(COL5A1):c.2603del (p.Gly868fs)
|
|
|
NM_000093.5(COL5A1):c.265C>T (p.Gln89Ter)
|
rs1833261804
|
|
NM_000093.5(COL5A1):c.2660del (p.Phe887fs)
|
rs1588551159
|
|
NM_000093.5(COL5A1):c.2701-25T>G
|
rs765079080
|
|
NM_000093.5(COL5A1):c.2730dup (p.Gln911fs)
|
rs2132802457
|
|
NM_000093.5(COL5A1):c.2731C>T (p.Gln911Ter)
|
rs1837850102
|
|
NM_000093.5(COL5A1):c.2734C>T (p.Arg912Ter)
|
rs863223478
|
|
NM_000093.5(COL5A1):c.2897del (p.Pro966fs)
|
rs1179967153
|
|
NM_000093.5(COL5A1):c.2918dup (p.Leu974fs)
|
|
|
NM_000093.5(COL5A1):c.2925_2926dup (p.Gly976fs)
|
|
|
NM_000093.5(COL5A1):c.2952+1G>C
|
|
|
NM_000093.5(COL5A1):c.2952+2_2952+3del
|
rs1588562135
|
|
NM_000093.5(COL5A1):c.2953-1G>A
|
rs866122374
|
|
NM_000093.5(COL5A1):c.297_304dup (p.Ile102fs)
|
rs1588448655
|
|
NM_000093.5(COL5A1):c.2988del (p.Gly997fs)
|
rs764693725
|
|
NM_000093.5(COL5A1):c.2988dup (p.Gly997fs)
|
rs764693725
|
|
NM_000093.5(COL5A1):c.2T>G (p.Met1Arg)
|
|
|
NM_000093.5(COL5A1):c.3054del (p.Pro1020fs)
|
rs2132822152
|
|
NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs)
|
rs863223473
|
|
NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter)
|
rs387906606
|
|
NM_000093.5(COL5A1):c.321del (p.Ala108fs)
|
rs2132569651
|
|
NM_000093.5(COL5A1):c.3260_3366+1del
|
rs2132830442
|
|
NM_000093.5(COL5A1):c.3272del (p.Glu1091fs)
|
|
|
NM_000093.5(COL5A1):c.3297del (p.Ile1101fs)
|
rs1838291478
|
|
NM_000093.5(COL5A1):c.3309_3325dup (p.Pro1109fs)
|
rs1564471440
|
|
NM_000093.5(COL5A1):c.3317_3333del (p.Arg1106fs)
|
|
|
NM_000093.5(COL5A1):c.337C>T (p.Gln113Ter)
|
rs2132569692
|
|
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter)
|
rs886042045
|
|
NM_000093.5(COL5A1):c.3443dup (p.Val1149fs)
|
|
|
NM_000093.5(COL5A1):c.3455dup (p.Gly1153fs)
|
rs2132838808
|
|
NM_000093.5(COL5A1):c.3514dup (p.Asp1172fs)
|
rs2132841152
|
|
NM_000093.5(COL5A1):c.3553C>T (p.Gln1185Ter)
|
|
|
NM_000093.5(COL5A1):c.3566del (p.Gly1189fs)
|
|
|
NM_000093.5(COL5A1):c.3613C>T (p.Gln1205Ter)
|
rs2132844990
|
|
NM_000093.5(COL5A1):c.3631C>T (p.Gln1211Ter)
|
rs1307084213
|
|
NM_000093.5(COL5A1):c.3671dup (p.Gly1225fs)
|
rs2132845192
|
|
NM_000093.5(COL5A1):c.3684del (p.Leu1229fs)
|
rs1564475090
|
|
NM_000093.5(COL5A1):c.3752del (p.Pro1251fs)
|
rs786205100
|
|
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs)
|
rs786205100
|
|
NM_000093.5(COL5A1):c.3762del (p.Gly1255fs)
|
rs1057518653
|
|
NM_000093.5(COL5A1):c.3769C>T (p.Arg1257Ter)
|
rs748870349
|
|
NM_000093.5(COL5A1):c.3772G>T (p.Gly1258Ter)
|
|
|
NM_000093.5(COL5A1):c.3788del (p.Pro1263fs)
|
|
|
NM_000093.5(COL5A1):c.3805C>T (p.Gln1269Ter)
|
rs1554805142
|
|
NM_000093.5(COL5A1):c.3833_3846del (p.Pro1278fs)
|
rs2132848313
|
|
NM_000093.5(COL5A1):c.3906+3G>T
|
rs786200922
|
|
NM_000093.5(COL5A1):c.3G>T (p.Met1Ile)
|
|
|
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
|
rs758337699
|
|
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)
|
rs863223452
|
|
NM_000093.5(COL5A1):c.4088del (p.Gly1363fs)
|
rs2132856138
|
|
NM_000093.5(COL5A1):c.4114G>A (p.Gly1372Arg)
|
rs1838729952
|
|
NM_000093.5(COL5A1):c.4126dup (p.Ser1376fs)
|
rs1131691820
|
|
NM_000093.5(COL5A1):c.4203del (p.Gly1402fs)
|
rs1060502255
|
|
NM_000093.5(COL5A1):c.4214del (p.Gly1405fs)
|
|
|
NM_000093.5(COL5A1):c.4266_4285del (p.Ile1425fs)
|
|
|
NM_000093.5(COL5A1):c.4282del (p.Gln1428fs)
|
rs2132864123
|
|
NM_000093.5(COL5A1):c.4318C>T (p.Arg1440Ter)
|
rs2132864295
|
|
NM_000093.5(COL5A1):c.4338+1G>A
|
rs1564481053
|
|
NM_000093.5(COL5A1):c.4370del (p.Pro1457fs)
|
|
|
NM_000093.5(COL5A1):c.4383dup (p.Gly1462fs)
|
rs2132864817
|
|
NM_000093.5(COL5A1):c.4385del (p.Gly1462fs)
|
rs2132864836
|
|
NM_000093.5(COL5A1):c.4389del (p.Met1464fs)
|
rs2132864849
|
|
NM_000093.5(COL5A1):c.4415_4416insTTTG (p.Lys1473fs)
|
|
|
NM_000093.5(COL5A1):c.4466G>A (p.Gly1489Glu)
|
rs121912932
|
|
NM_000093.5(COL5A1):c.4474G>A (p.Gly1492Ser)
|
rs863223458
|
|
NM_000093.5(COL5A1):c.4476TCC[1] (p.Pro1494del)
|
rs1838936100
|
|
NM_000093.5(COL5A1):c.4525C>T (p.Gln1509Ter)
|
|
|
NM_000093.5(COL5A1):c.4545_4549dup (p.Glu1517fs)
|
rs1588589663
|
|
NM_000093.5(COL5A1):c.456C>A (p.Tyr152Ter)
|
|
|
NM_000093.5(COL5A1):c.4598dup (p.Gly1534fs)
|
|
|
NM_000093.5(COL5A1):c.4599del (p.Gly1534fs)
|
|
|
NM_000093.5(COL5A1):c.4604dup (p.Pro1536fs)
|
rs2132874649
|
|
NM_000093.5(COL5A1):c.4628del (p.Gly1543fs)
|
rs1839084095
|
|
NM_000093.5(COL5A1):c.4656_4660del (p.Pro1553fs)
|
rs1554807812
|
|
NM_000093.5(COL5A1):c.4673dup (p.His1559fs)
|
|
|
NM_000093.5(COL5A1):c.4693_4694insT (p.Pro1565fs)
|
|
|
NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs)
|
rs1131691996
|
|
NM_000093.5(COL5A1):c.4714del (p.Val1572fs)
|
rs2132883536
|
|
NM_000093.5(COL5A1):c.4738del (p.Ala1580fs)
|
|
|
NM_000093.5(COL5A1):c.4836_4854del (p.Phe1612fs)
|
rs2132884146
|
|
NM_000093.5(COL5A1):c.4909del (p.Arg1637fs)
|
rs1564487306
|
|
NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser)
|
rs80338764
|
|
NM_000093.5(COL5A1):c.4927C>T (p.Gln1643Ter)
|
rs1219304070
|
|
NM_000093.5(COL5A1):c.494G>A (p.Trp165Ter)
|
rs1588449879
|
|
NM_000093.5(COL5A1):c.495G>A (p.Trp165Ter)
|
|
|
NM_000093.5(COL5A1):c.4962C>A (p.Tyr1654Ter)
|
|
|
NM_000093.5(COL5A1):c.5012G>A (p.Cys1671Tyr)
|
rs1554808357
|
|
NM_000093.5(COL5A1):c.5032dup (p.Ser1678fs)
|
rs2132887783
|
|
NM_000093.5(COL5A1):c.5084G>A (p.Trp1695Ter)
|
|
|
NM_000093.5(COL5A1):c.5137-11T>A
|
rs183495554
|
|
NM_000093.5(COL5A1):c.5155G>T (p.Glu1719Ter)
|
rs776640704
|
|
NM_000093.5(COL5A1):c.5175_5200dup (p.Leu1734delinsArgTyrArgTer)
|
rs2132925550
|
|
NM_000093.5(COL5A1):c.5218C>T (p.Gln1740Ter)
|
rs2132925640
|
|
NM_000093.5(COL5A1):c.5229_5230del (p.Tyr1744fs)
|
rs2132925682
|
|
NM_000093.5(COL5A1):c.5241C>G (p.Tyr1747Ter)
|
|
|
NM_000093.5(COL5A1):c.5293dup (p.Arg1765fs)
|
rs1839803841
|
|
NM_000093.5(COL5A1):c.5299del (p.Leu1767fs)
|
rs1554726279
|
|
NM_000093.5(COL5A1):c.5317del (p.Glu1773fs)
|
rs1554726283
|
|
NM_000093.5(COL5A1):c.5319_5320dup (p.Met1774fs)
|
|
|
NM_000093.5(COL5A1):c.5336_5337delinsG (p.Asn1779fs)
|
rs1588615658
|
|
NM_000093.5(COL5A1):c.5340dup (p.Tyr1781fs)
|
rs2132926166
|
|
NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs)
|
rs863223475
|
|
NM_000093.5(COL5A1):c.5370+3_5370+6del
|
rs786200923
|
|
NM_000093.5(COL5A1):c.5377_5380del (p.Lys1793fs)
|
rs1830124408
|
|
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter)
|
rs1588621711
|
|
NM_000093.5(COL5A1):c.5415del (p.Val1807fs)
|
rs2132943031
|
|
NM_000093.5(COL5A1):c.5417_5420dup (p.Glu1808fs)
|
|
|
NM_000093.5(COL5A1):c.5425C>T (p.Gln1809Ter)
|
rs2132943056
|
|
NM_000093.5(COL5A1):c.5498dup (p.Ala1834fs)
|
rs1564191704
|
|
NM_000093.5(COL5A1):c.643G>T (p.Glu215Ter)
|
rs2132573338
|
|
NM_000093.5(COL5A1):c.655-2A>G
|
rs786205101
|
|
NM_000093.5(COL5A1):c.708C>A (p.Tyr236Ter)
|
|
|
NM_000093.5(COL5A1):c.74T>G (p.Leu25Arg)
|
rs1831316527
|
|
NM_000093.5(COL5A1):c.761C>A (p.Ser254Ter)
|
rs144844792
|
|
NM_000093.5(COL5A1):c.786+1G>A
|
|
|
NM_000093.5(COL5A1):c.786+5G>A
|
rs2132632978
|
|
NM_000093.5(COL5A1):c.849del (p.Glu284fs)
|
rs1588477255
|
|
NM_000093.5(COL5A1):c.865G>T (p.Glu289Ter)
|
|
|
NM_000093.5(COL5A1):c.876dup (p.Ser293fs)
|
rs1834751333
|
|
NM_000093.5(COL5A1):c.904G>T (p.Glu302Ter)
|
rs1554787811
|
|
NM_000302.3(PLOD1):c.1756_1902del
|
|
|
NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter)
|
rs1569713366
|
|
NM_000302.4(PLOD1):c.1170_1192del (p.Asn391fs)
|
rs2100756997
|
|
NM_000302.4(PLOD1):c.1195C>T (p.Gln399Ter)
|
|
|
NM_000302.4(PLOD1):c.1256G>A (p.Trp419Ter)
|
|
|
NM_000302.4(PLOD1):c.1261dup (p.Ala421fs)
|
|
|
NM_000302.4(PLOD1):c.1281C>A (p.Tyr427Ter)
|
|
|
NM_000302.4(PLOD1):c.1362del (p.Tyr455fs)
|
rs2100758252
|
|
NM_000302.4(PLOD1):c.1365C>G (p.Tyr455Ter)
|
|
|
NM_000302.4(PLOD1):c.145C>T (p.Gln49Ter)
|
rs1189324317
|
|
NM_000302.4(PLOD1):c.1479dup (p.Met494fs)
|
rs1569724692
|
|
NM_000302.4(PLOD1):c.153dup (p.Asn52fs)
|
|
|
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del)
|
rs797044446
|
|
NM_000302.4(PLOD1):c.1646del (p.Glu549fs)
|
rs2100760068
|
|
NM_000302.4(PLOD1):c.1651-2A>C
|
rs565513365
|
|
NM_000302.4(PLOD1):c.1651-2del
|
rs797044447
|
|
NM_000302.4(PLOD1):c.1670_1671delinsAA (p.Trp557Ter)
|
|
|
NM_000302.4(PLOD1):c.1698T>A (p.Cys566Ter)
|
|
|
NM_000302.4(PLOD1):c.1711G>T (p.Glu571Ter)
|
|
|
NM_000302.4(PLOD1):c.1772del (p.Gly591fs)
|
rs1645855563
|
|
NM_000302.4(PLOD1):c.1795del (p.Ile599fs)
|
rs1557500194
|
|
NM_000302.4(PLOD1):c.180del (p.Glu62fs)
|
|
|
NM_000302.4(PLOD1):c.1811dup (p.Asn604fs)
|
|
|
NM_000302.4(PLOD1):c.1813C>T (p.Gln605Ter)
|
|
|
NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys)
|
rs121913553
|
|
NM_000302.4(PLOD1):c.2025C>G (p.Tyr675Ter)
|
rs1434924385
|
|
NM_000302.4(PLOD1):c.272del (p.Lys91fs)
|
rs2100743480
|
|
NM_000302.4(PLOD1):c.274G>T (p.Glu92Ter)
|
|
|
NM_000302.4(PLOD1):c.327del (p.Arg111fs)
|
rs886042976
|
|
NM_000302.4(PLOD1):c.331del (p.Arg111fs)
|
|
|
NM_000302.4(PLOD1):c.367C>T (p.Gln123Ter)
|
rs1645691337
|
|
NM_000302.4(PLOD1):c.402del (p.Asp135fs)
|
rs886043926
|
|
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs)
|
rs745409628
|
|
NM_000302.4(PLOD1):c.486dup (p.Asn163fs)
|
|
|
NM_000302.4(PLOD1):c.579+1G>A
|
rs797044448
|
|
NM_000302.4(PLOD1):c.707_710del (p.Leu236fs)
|
|
|
NM_000302.4(PLOD1):c.756C>G (p.Tyr252Ter)
|
|
|
NM_000302.4(PLOD1):c.86T>A (p.Leu29Ter)
|
|
|
NM_000393.5(COL5A2):c.1066C>T (p.Arg356Ter)
|
|
|
NM_000393.5(COL5A2):c.1105G>A (p.Gly369Ser)
|
|
|
NM_000393.5(COL5A2):c.1159-60_2031+62dup
|
|
|
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=)
|
rs1553515794
|
|
NM_000393.5(COL5A2):c.1402-2A>G
|
|
|
NM_000393.5(COL5A2):c.1617+4A>G
|
rs1553515517
|
|
NM_000393.5(COL5A2):c.1924-2_1928del
|
rs786205103
|
|
NM_000393.5(COL5A2):c.1924-4C>G
|
rs1559085578
|
|
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=)
|
rs863223491
|
|
NM_000393.5(COL5A2):c.2031+1G>T
|
rs786205104
|
|
NM_000393.5(COL5A2):c.2137C>T (p.Arg713Ter)
|
|
|
NM_000393.5(COL5A2):c.2553+2del
|
rs1553514506
|
|
NM_000393.5(COL5A2):c.2769+2dup
|
|
|
NM_000393.5(COL5A2):c.2919dup (p.Asp974fs)
|
rs1685782021
|
|
NM_000393.5(COL5A2):c.3147+1G>A
|
rs1685734160
|
|
NM_000393.5(COL5A2):c.3148-2A>G
|
rs1553513971
|
|
NM_000393.5(COL5A2):c.3201+1G>T
|
|
|
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=)
|
rs878853978
|
|
NM_000393.5(COL5A2):c.3406C>T (p.Arg1136Ter)
|
|
|
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg)
|
rs121912930
|
|
NM_000393.5(COL5A2):c.386del (p.Gly129fs)
|
rs2105686874
|
|
NM_000393.5(COL5A2):c.387del (p.Arg130fs)
|
rs2105686869
|
|
NM_000393.5(COL5A2):c.3933C>G (p.Tyr1311Ter)
|
|
|
NM_000393.5(COL5A2):c.4298del (p.Ile1433fs)
|
rs1553512393
|
|
NM_000393.5(COL5A2):c.690+5G>T
|
rs1576517517
|
|
NM_000393.5(COL5A2):c.971G>A (p.Gly324Asp)
|
rs2105632746
|
|
NM_001110556.2(FLNA):c.1829-1G>C
|
rs1603362402
|
|
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln)
|
rs267606815
|
|
NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp)
|
rs267606817
|
|
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
|
|
|
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)
|
rs1603360542
|
|
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg)
|
rs267606816
|
|
NM_001128225.3(SLC39A13):c.483_491del (p.Phe162_Ala164del)
|
|
|
NM_001129.5(AEBP1):c.1067G>A (p.Trp356Ter)
|
rs2096226168
|
|
NM_001129.5(AEBP1):c.1320_1326del (p.Arg440fs)
|
rs1554327284
|
|
NM_001129.5(AEBP1):c.1470del (p.Asn490fs)
|
rs1554327449
|
|
NM_001129.5(AEBP1):c.2853C>A (p.Tyr951Ter)
|
rs2096232673
|
|
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs)
|
rs1554803622
|
|
NM_001365276.2(TNXB):c.12220C>T (p.Arg4074Cys)
|
rs587777682
|
|
NM_001365276.2(TNXB):c.2116_2117dup (p.Val706_Glu707insTer)
|
rs144556766
|
|
NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs)
|
rs764070148
|
|
NM_001365276.2(TNXB):c.3763dup (p.Arg1255fs)
|
|
|
NM_001365276.2(TNXB):c.3908del (p.Gln1303fs)
|
|
|
NM_001365276.2(TNXB):c.5362del (p.Thr1788fs)
|
rs1778646780
|
|
NM_001365276.2(TNXB):c.7168+1G>T
|
rs748759848
|
|
NM_001367624.2(ZNF469):c.10100G>A (p.Cys3367Tyr)
|
rs387907062
|
|
NM_001367624.2(ZNF469):c.1444del (p.Leu482fs)
|
rs1484586294
|
|
NM_001367624.2(ZNF469):c.3307C>T (p.Gln1103Ter)
|
rs1906110243
|
|
NM_001367624.2(ZNF469):c.4258G>T (p.Glu1420Ter)
|
rs387907063
|
|
NM_001367624.2(ZNF469):c.6027del (p.Gly2011fs)
|
rs1597210953
|
|
NM_001367624.2(ZNF469):c.9615del (p.Gln3206fs)
|
rs2142314304
|
|
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg)
|
rs1057519577
|
|
NM_001733.7(C1R):c.1073G>T (p.Cys358Phe)
|
rs1057518645
|
|
NM_001733.7(C1R):c.1092G>C (p.Trp364Cys)
|
rs1057519578
|
|
NM_001733.7(C1R):c.1113C>G (p.Cys371Trp)
|
rs1057519579
|
|
NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle)
|
rs1057519580
|
|
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg)
|
rs1060499554
|
|
NM_001733.7(C1R):c.1427_1428dup (p.Trp477fs)
|
rs1938056582
|
|
NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp)
|
rs1057519025
|
|
NM_001733.7(C1R):c.869A>G (p.Asp290Gly)
|
rs1057518643
|
|
NM_001733.7(C1R):c.890G>A (p.Gly297Asp)
|
rs1057519026
|
|
NM_001733.7(C1R):c.899T>C (p.Leu300Pro)
|
rs1057515579
|
|
NM_001733.7(C1R):c.902G>C (p.Arg301Pro)
|
rs760277934
|
|
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys)
|
rs1057519576
|
|
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr)
|
rs1057518646
|
|
NM_001733.7(C1R):c.927C>G (p.Cys309Trp)
|
rs769707492
|
|
NM_001734.5(C1S):c.880T>C (p.Cys294Arg)
|
rs886040975
|
|
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu)
|
rs886040974
|
|
NM_003238.6(TGFB2):c.1041del (p.Gly348fs)
|
rs2102630133
|
|
NM_003247.5(THBS2):c.2686T>C (p.Cys896Arg)
|
|
|
NM_004370.5(COL12A1):c.7356del
|
rs1473576494
|
|
NM_004370.6(COL12A1):c.27_42del (p.Ala10fs)
|
rs2149492561
|
|
NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter)
|
rs1582139761
|
|
NM_004370.6(COL12A1):c.3994del (p.Ala1332fs)
|
rs1554182935
|
|
NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs)
|
rs1582133194
|
|
NM_004370.6(COL12A1):c.4177del (p.Ile1393fs)
|
rs1767314344
|
|
NM_004370.6(COL12A1):c.4186C>T (p.Arg1396Ter)
|
|
|
NM_004370.6(COL12A1):c.4231_4232del (p.Ser1411fs)
|
|
|
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)
|
rs1767310072
|
|
NM_004370.6(COL12A1):c.4245T>A (p.Tyr1415Ter)
|
|
|
NM_004370.6(COL12A1):c.4282C>T (p.Gln1428Ter)
|
|
|
NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter)
|
rs1562223444
|
|
NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs)
|
rs1767268002
|
|
NM_004370.6(COL12A1):c.4924G>T (p.Glu1642Ter)
|
|
|
NM_004370.6(COL12A1):c.4973dup (p.Thr1659fs)
|
|
|
NM_004370.6(COL12A1):c.5019del (p.Thr1674fs)
|
|
|
NM_004370.6(COL12A1):c.5269C>T (p.Arg1757Ter)
|
|
|
NM_004370.6(COL12A1):c.54del (p.Ser19fs)
|
|
|
NM_004370.6(COL12A1):c.5823del (p.Val1942fs)
|
|
|
NM_004370.6(COL12A1):c.6061C>T (p.Arg2021Ter)
|
|
|
NM_004370.6(COL12A1):c.6094A>T (p.Arg2032Ter)
|
|
|
NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter)
|
rs767845062
|
|
NM_004370.6(COL12A1):c.6165C>A (p.Tyr2055Ter)
|
|
|
NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter)
|
rs1765909471
|
|
NM_004370.6(COL12A1):c.6737_6812del (p.Gln2246fs)
|
rs2149373593
|
|
NM_004370.6(COL12A1):c.6819del (p.Phe2273fs)
|
rs1765881602
|
|
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)
|
rs796052093
|
|
NM_004370.6(COL12A1):c.7085del (p.Gln2362fs)
|
rs2149369481
|
|
NM_004370.6(COL12A1):c.7348C>T (p.Gln2450Ter)
|
|
|
NM_004370.6(COL12A1):c.7377del (p.Val2460fs)
|
|
|
NM_004370.6(COL12A1):c.7637del (p.Ser2546fs)
|
|
|
NM_004370.6(COL12A1):c.7840+1G>A
|
rs875989819
|
|
NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs)
|
rs1582068925
|
|
NM_004370.6(COL12A1):c.8100+1G>C
|
|
|
NM_004370.6(COL12A1):c.8100+2T>C
|
rs1768702301
|
|
NM_004370.6(COL12A1):c.8100+2T>G
|
|
|
NM_004370.6(COL12A1):c.8100+3_8100+6del
|
rs2149352927
|
|
NM_004370.6(COL12A1):c.8108del (p.Ile2703fs)
|
|
|
NM_004370.6(COL12A1):c.8329G>C (p.Gly2777Arg)
|
|
|
NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp)
|
rs796052094
|
|
NM_004370.6(COL12A1):c.8366del (p.Gly2789fs)
|
|
|
NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter)
|
rs1768358162
|
|
NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter)
|
rs984314526
|
|
NM_004370.6(COL12A1):c.8571del (p.Pro2858fs)
|
rs2149337320
|
|
NM_004370.6(COL12A1):c.8577+1del
|
|
|
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter)
|
rs371399251
|
|
NM_004370.6(COL12A1):c.8740del (p.Gln2914fs)
|
|
|
NM_004370.6(COL12A1):c.8759_8762del (p.Met2920fs)
|
|
|
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)
|
rs387906850
|
|
NM_007255.3(B4GALT7):c.277dup (p.His93fs)
|
rs879255634
|
|
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg)
|
rs1370937766
|
|
NM_007255.3(B4GALT7):c.617T>C (p.Leu206Pro)
|
rs121917818
|
|
NM_013352.4(DSE):c.799A>G (p.Arg267Gly)
|
rs1554227382
|
|
NM_013352.4(DSE):c.803C>T (p.Ser268Leu)
|
rs398122361
|
|
NM_014244.4(ADAMTS2):c.691del
|
rs1764738425
|
|
NM_014244.5(ADAMTS2):c.100_130del (p.Pro34fs)
|
|
|
NM_014244.5(ADAMTS2):c.102_123dup (p.Ala42fs)
|
rs1757906798
|
|
NM_014244.5(ADAMTS2):c.1034G>A (p.Trp345Ter)
|
|
|
NM_014244.5(ADAMTS2):c.107del (p.Asn36fs)
|
|
|
NM_014244.5(ADAMTS2):c.11del (p.Pro4fs)
|
|
|
NM_014244.5(ADAMTS2):c.1360C>T (p.Gln454Ter)
|
|
|
NM_014244.5(ADAMTS2):c.137del (p.Pro46fs)
|
rs1417947464
|
|
NM_014244.5(ADAMTS2):c.1476C>A (p.Cys492Ter)
|
|
|
NM_014244.5(ADAMTS2):c.1513dup (p.Ala505fs)
|
rs1763406117
|
|
NM_014244.5(ADAMTS2):c.1599dup (p.Asp535fs)
|
|
|
NM_014244.5(ADAMTS2):c.1612_1613del (p.Met538fs)
|
|
|
NM_014244.5(ADAMTS2):c.1701G>A (p.Trp567Ter)
|
|
|
NM_014244.5(ADAMTS2):c.1803_1827del (p.Gly602fs)
|
|
|
NM_014244.5(ADAMTS2):c.1822C>T (p.Gln608Ter)
|
rs2113218754
|
|
NM_014244.5(ADAMTS2):c.1845C>A (p.Cys615Ter)
|
|
|
NM_014244.5(ADAMTS2):c.1903G>T (p.Glu635Ter)
|
|
|
NM_014244.5(ADAMTS2):c.1925_1934del (p.His642fs)
|
|
|
NM_014244.5(ADAMTS2):c.1976_1977delinsAG (p.Cys659Ter)
|
|
|
NM_014244.5(ADAMTS2):c.1977C>A (p.Cys659Ter)
|
|
|
NM_014244.5(ADAMTS2):c.2043del (p.Tyr682fs)
|
|
|
NM_014244.5(ADAMTS2):c.21del (p.Ala8fs)
|
rs2127463933
|
|
NM_014244.5(ADAMTS2):c.227C>A (p.Ser76Ter)
|
rs916172129
|
|
NM_014244.5(ADAMTS2):c.2372del (p.Met791fs)
|
rs2113200198
|
|
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter)
|
rs137853147
|
|
NM_014244.5(ADAMTS2):c.2385G>A (p.Trp795Ter)
|
rs1762930637
|
|
NM_014244.5(ADAMTS2):c.2398G>T (p.Glu800Ter)
|
|
|
NM_014244.5(ADAMTS2):c.2561_2562del (p.Val854fs)
|
rs1554124086
|
|
NM_014244.5(ADAMTS2):c.2569G>T (p.Glu857Ter)
|
|
|
NM_014244.5(ADAMTS2):c.265del (p.Ala89fs)
|
|
|
NM_014244.5(ADAMTS2):c.2716A>T (p.Arg906Ter)
|
rs2113190301
|
|
NM_014244.5(ADAMTS2):c.274del (p.Val92fs)
|
rs2127463432
|
|
NM_014244.5(ADAMTS2):c.2768G>A (p.Trp923Ter)
|
|
|
NM_014244.5(ADAMTS2):c.2927del (p.Pro976fs)
|
rs1762828499
|
|
NM_014244.5(ADAMTS2):c.3005del (p.Cys1002fs)
|
|
|
NM_014244.5(ADAMTS2):c.3007del (p.Arg1003fs)
|
|
|
NM_014244.5(ADAMTS2):c.3026_3027delinsAA (p.Phe1009Ter)
|
|
|
NM_014244.5(ADAMTS2):c.3088C>T (p.Arg1030Ter)
|
rs966437723
|
|
NM_014244.5(ADAMTS2):c.310dup (p.Glu104fs)
|
rs2127463403
|
|
NM_014244.5(ADAMTS2):c.32del (p.Leu11fs)
|
rs1581302068
|
|
NM_014244.5(ADAMTS2):c.417G>A (p.Trp139Ter)
|
|
|
NM_014244.5(ADAMTS2):c.431del (p.Gly144fs)
|
|
|
NM_014244.5(ADAMTS2):c.470_480del (p.Tyr157fs)
|
|
|
NM_014244.5(ADAMTS2):c.471C>G (p.Tyr157Ter)
|
|
|
NM_014244.5(ADAMTS2):c.51del (p.Leu18fs)
|
|
|
NM_014244.5(ADAMTS2):c.55del (p.Leu19fs)
|
rs1757915135
|
|
NM_014244.5(ADAMTS2):c.591dup (p.Leu198fs)
|
rs2113513390
|
|
NM_014244.5(ADAMTS2):c.842dup (p.His282fs)
|
rs1764730959
|
|
NM_014244.5(ADAMTS2):c.97_130dup (p.Asp44fs)
|
|
|
NM_017946.4(FKBP14):c.156T>A (p.Tyr52Ter)
|
rs1562840744
|
|
NM_017946.4(FKBP14):c.197+5_197+8del
|
rs747353360
|
|
NM_017946.4(FKBP14):c.206dup (p.His69fs)
|
rs2127949580
|
|
NM_017946.4(FKBP14):c.264G>A (p.Trp88Ter)
|
|
|
NM_017946.4(FKBP14):c.34_35del (p.Leu12fs)
|
rs1583738732
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_017946.4(FKBP14):c.428C>G (p.Ser143Ter)
|
|
|
NM_017946.4(FKBP14):c.42_60del (p.Val14_Thr15insTer)
|
rs770271683
|
|
NM_017946.4(FKBP14):c.570AGA[1] (p.Glu191del)
|
rs1430849353
|
|
NM_017946.4(FKBP14):c.636G>C (p.Ter212Tyr)
|
rs1583725395
|
|
NM_017946.4(FKBP14):c.95_96del (p.Leu32fs)
|
rs2127950876
|
|
NM_018699.3(PRDM5):c.946_1623del
|
|
|
NM_018699.4(PRDM5):c.1036C>T (p.Arg346Ter)
|
|
|
NM_018699.4(PRDM5):c.93+1G>A
|
rs1267369024
|
|
NM_018699.4(PRDM5):c.93+2T>C
|
rs1579259095
|
|
NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp)
|
rs397514722
|
|
NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu)
|
rs397514720
|
|
NM_080605.4(B3GALT6):c.227del (p.Ile76fs)
|
rs1638539773
|
|
NM_080605.4(B3GALT6):c.235A>G (p.Thr79Ala)
|
|
|
NM_080605.4(B3GALT6):c.2T>C (p.Met1Thr)
|
rs969701761
|
|
NM_080605.4(B3GALT6):c.3G>A (p.Met1Ile)
|
|
|
NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del)
|
rs786200942
|
|
NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu)
|
rs1553151294
|
|
NM_080605.4(B3GALT6):c.588del (p.Arg197fs)
|
rs533071750
|
|
NM_080605.4(B3GALT6):c.766C>T (p.Arg256Trp)
|
rs1638566519
|
|
NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr)
|
rs397514721
|
|
NM_130468.3(CHST14):c.[403C>G;410T>A]
|
|
|
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)
|
rs397518432
|
|
NM_130468.4(CHST14):c.156_166del (p.Ser53fs)
|
rs1293915082
|
|
NM_130468.4(CHST14):c.160dup (p.Ser54fs)
|
rs1566969054
|
|
NM_130468.4(CHST14):c.205A>T (p.Lys69Ter)
|
rs267606730
|
|
NM_130468.4(CHST14):c.264del (p.Lys89fs)
|
|
|
NM_130468.4(CHST14):c.315del (p.Gln106fs)
|
|
|
NM_130468.4(CHST14):c.453dup (p.Cys152fs)
|
rs1555410747
|
|
NM_130468.4(CHST14):c.486G>A (p.Trp162Ter)
|
|
|
NM_130468.4(CHST14):c.527_530delinsGACAG (p.Val176fs)
|
rs1595869467
|
|
NM_130468.4(CHST14):c.676_682delinsGCTATGGGGCT (p.Lys226fs)
|
|
|
NM_130468.4(CHST14):c.711T>A (p.Tyr237Ter)
|
|
|
NM_130468.4(CHST14):c.755_851del (p.Ser252fs)
|
rs1555410768
|
|
NM_130468.4(CHST14):c.783del (p.Glu262fs)
|
|
|
NM_130468.4(CHST14):c.797dup (p.Tyr266Ter)
|
rs1595869602
|
|
NM_130468.4(CHST14):c.821G>C (p.Arg274Pro)
|
rs397514706
|
|
NM_130468.4(CHST14):c.842C>T (p.Pro281Leu)
|
rs267606729
|
|
NM_130468.4(CHST14):c.866G>C (p.Cys289Ser)
|
rs267606731
|
|
NM_130468.4(CHST14):c.922C>T (p.Gln308Ter)
|
|
|
NM_130468.4(CHST14):c.981_1000dup (p.Glu334fs)
|
rs1555410785
|
|
TNXB, 30-KB DEL
|
|
|