NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met)
|
rs121912575
|
0.00061
|
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.2008C>T (p.Arg670Ter)
|
rs121913554
|
0.00003
|
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)
|
rs121913551
|
0.00003
|
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_007255.3(B4GALT7):c.557C>A (p.Ala186Asp)
|
rs121917817
|
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_000089.4(COL1A2):c.1404+1G>A
|
rs67162110
|
0.00001
|
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter)
|
rs121913550
|
0.00001
|
NM_000477.5(ALB):c.71G>A (p.Arg24Gln)
|
rs74821926
|
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.917dup (p.Tyr306Ter)
|
rs1443187318
|
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_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.638G>C (p.Arg213Pro)
|
rs121908257
|
0.00001
|
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys)
|
rs121908258
|
0.00001
|
COL1A2, EX6DEL
|
|
|
COL3A1, GLY373ARG
|
|
|
NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup
|
|
|
NC_000007.13:g.94035075_94047591dup
|
|
|
NG_023212.2:g.(6563_77264)_(169258_191449)del
|
|
|
NG_042181.1:(g.89607_91434)_(105703_107097)del
|
|
|
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])
|
rs74315111
|
|
NM_000088.4(COL1A1):c.472-1G>A
|
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.934C>T (p.Arg312Cys)
|
rs72645347
|
|
NM_000089.4(COL1A2):c.1404+1G>C
|
rs67162110
|
|
NM_000089.4(COL1A2):c.226-1G>C
|
rs66820119
|
|
NM_000089.4(COL1A2):c.226-2A>G
|
rs72656355
|
|
NM_000089.4(COL1A2):c.279+1G>A
|
rs67398234
|
|
NM_000089.4(COL1A2):c.279+2T>C
|
rs72656357
|
|
NM_000089.4(COL1A2):c.279G>A (p.Met93Ile)
|
rs72656356
|
|
NM_000089.4(COL1A2):c.293dup (p.Pro98_Arg99insTer)
|
rs797044459
|
|
NM_000089.4(COL1A2):c.3105+2T>C
|
rs72659324
|
|
NM_000089.4(COL1A2):c.324+4del
|
rs1791756559
|
|
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)
|
rs1114167416
|
|
NM_000089.4(COL1A2):c.3601G>T (p.Glu1201Ter)
|
rs72659343
|
|
NM_000089.4(COL1A2):c.432+5G>A
|
rs72656364
|
|
NM_000089.4(COL1A2):c.540+5G>A
|
rs72656367
|
|
NM_000089.4(COL1A2):c.70+717A>G
|
rs72656354
|
|
NM_000090.4(COL3A1):c.1149+1G>A
|
rs587779443
|
|
NM_000090.4(COL3A1):c.1347+1G>A
|
rs397509370
|
|
NM_000090.4(COL3A1):c.1655G>A (p.Gly552Glu)
|
rs121912928
|
|
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)
|
rs121912923
|
|
NM_000090.4(COL3A1):c.1761+5G>T
|
rs397509372
|
|
NM_000090.4(COL3A1):c.1869+5G>A
|
rs397509376
|
|
NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp)
|
rs121912921
|
|
NM_000090.4(COL3A1):c.2212G>A (p.Gly738Ser)
|
rs121912925
|
|
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg)
|
rs113485686
|
|
NM_000090.4(COL3A1):c.2437G>A (p.Gly813Ser)
|
rs397509369
|
|
NM_000090.4(COL3A1):c.2490_2516del (p.Glu832_Gly840del)
|
rs397509374
|
|
NM_000090.4(COL3A1):c.2553+5G>T
|
rs397509371
|
|
NM_000090.4(COL3A1):c.2879G>T (p.Gly960Val)
|
rs121912922
|
|
NM_000090.4(COL3A1):c.2931+1G>A
|
rs397509373
|
|
NM_000090.4(COL3A1):c.3041G>A (p.Gly1014Glu)
|
rs121912916
|
|
NM_000090.4(COL3A1):c.3093+1G>A
|
rs869312034
|
|
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.3230G>T (p.Gly1077Val)
|
rs121912915
|
|
NM_000090.4(COL3A1):c.3302G>A (p.Gly1101Glu)
|
rs121912924
|
|
NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu)
|
rs121912918
|
|
NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp)
|
rs121912917
|
|
NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu)
|
rs112456072
|
|
NM_000090.4(COL3A1):c.406G>C (p.Gly136Arg)
|
rs387906557
|
|
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)
|
rs121912926
|
|
NM_000090.4(COL3A1):c.582+5G>A
|
rs587779671
|
|
NM_000090.4(COL3A1):c.582+6T>C
|
rs397509375
|
|
NM_000090.4(COL3A1):c.650_1663-83del
|
|
|
NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp)
|
rs121912927
|
|
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg)
|
rs1553507557
|
|
NM_000093.4(COL5A1):c.4339-1delG
|
rs786205102
|
|
NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter)
|
rs121912933
|
|
NM_000093.5(COL5A1):c.2701-25T>G
|
rs765079080
|
|
NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter)
|
rs387906606
|
|
NM_000093.5(COL5A1):c.3260_3366+1del
|
rs2132830442
|
|
NM_000093.5(COL5A1):c.3752del (p.Pro1251fs)
|
rs786205100
|
|
NM_000093.5(COL5A1):c.3906+3G>T
|
rs786200922
|
|
NM_000093.5(COL5A1):c.4466G>A (p.Gly1489Glu)
|
rs121912932
|
|
NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser)
|
rs80338764
|
|
NM_000093.5(COL5A1):c.5137-11T>A
|
rs183495554
|
|
NM_000093.5(COL5A1):c.5370+3_5370+6del
|
rs786200923
|
|
NM_000093.5(COL5A1):c.655-2A>G
|
rs786205101
|
|
NM_000302.3(PLOD1):c.1756_1902del
|
|
|
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del)
|
rs797044446
|
|
NM_000302.4(PLOD1):c.1651-2del
|
rs797044447
|
|
NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys)
|
rs121913553
|
|
NM_000302.4(PLOD1):c.579+1G>A
|
rs797044448
|
|
NM_000393.5(COL5A2):c.1617+4A>G
|
rs1553515517
|
|
NM_000393.5(COL5A2):c.1924-2_1928del
|
rs786205103
|
|
NM_000393.5(COL5A2):c.2031+1G>T
|
rs786205104
|
|
NM_000393.5(COL5A2):c.2553+2del
|
rs1553514506
|
|
NM_000393.5(COL5A2):c.3148-2A>G
|
rs1553513971
|
|
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg)
|
rs121912930
|
|
NM_000393.5(COL5A2):c.4298del (p.Ile1433fs)
|
rs1553512393
|
|
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.1320_1326del (p.Arg440fs)
|
rs1554327284
|
|
NM_001129.5(AEBP1):c.1470del (p.Asn490fs)
|
rs1554327449
|
|
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_001367624.2(ZNF469):c.10100G>A (p.Cys3367Tyr)
|
rs387907062
|
|
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.1073G>T (p.Cys358Phe)
|
rs1057518645
|
|
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.899T>C (p.Leu300Pro)
|
rs1057515579
|
|
NM_001733.7(C1R):c.902G>C (p.Arg301Pro)
|
rs760277934
|
|
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_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)
|
rs796052093
|
|
NM_004370.6(COL12A1):c.8329G>C (p.Gly2777Arg)
|
|
|
NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp)
|
rs796052094
|
|
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_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter)
|
rs137853147
|
|
NM_017946.4(FKBP14):c.197+5_197+8del
|
rs747353360
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_017946.4(FKBP14):c.42_60del (p.Val14_Thr15insTer)
|
rs770271683
|
|
NM_017946.4(FKBP14):c.570AGA[1] (p.Glu191del)
|
rs1430849353
|
|
NM_018699.3(PRDM5):c.946_1623del
|
|
|
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.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.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.205A>T (p.Lys69Ter)
|
rs267606730
|
|
NM_130468.4(CHST14):c.453dup (p.Cys152fs)
|
rs1555410747
|
|
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.981_1000dup (p.Glu334fs)
|
rs1555410785
|
|
TNXB, 30-KB DEL
|
|
|