ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1314
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.