ClinVar Miner

List of variants in gene COL5A2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 568
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.2229+51T>C rs7556733 0.95743
NM_000393.5(COL5A2):c.2032-39A>T rs6414122 0.95692
NM_000393.5(COL5A2):c.4353+101A>G rs4666770 0.90278
NM_000393.5(COL5A2):c.4353+70A>G rs7420715 0.90261
NM_000393.5(COL5A2):c.1977+85G>C rs7424947 0.89237
NM_000393.5(COL5A2):c.2500-134A>G rs6750027 0.87431
NM_000393.5(COL5A2):c.322+157C>T rs4128538 0.86911
NM_000393.5(COL5A2):c.906+302C>T rs7426169 0.73346
NM_000393.5(COL5A2):c.2130+141T>G rs12989558 0.72476
NM_000393.5(COL5A2):c.2131-148A>G rs10178611 0.72472
NM_000393.5(COL5A2):c.98-240A>T rs7568732 0.71351
NM_000393.5(COL5A2):c.3526-324C>T rs10194682 0.71303
NM_000393.5(COL5A2):c.4113+47C>T rs12693526 0.71292
NM_000393.5(COL5A2):c.4113+282G>A rs13008197 0.71287
NM_000393.5(COL5A2):c.4114-212G>A rs4667259 0.71286
NM_000393.5(COL5A2):c.1158+79A>C rs6434317 0.71265
NM_000393.5(COL5A2):c.1563+262C>T rs6434316 0.71226
NM_000393.5(COL5A2):c.2445+98G>A rs6738371 0.71058
NM_000393.5(COL5A2):c.2770-306A>G rs7423973 0.71058
NM_000393.5(COL5A2):c.2085+143C>G rs6414121 0.71056
NM_000393.5(COL5A2):c.2715+238A>T rs62184178 0.70707
NM_000393.5(COL5A2):c.2715+237A>T rs62184179 0.70698
NM_000393.5(COL5A2):c.2715+236A>T rs62184180 0.70696
NM_000393.5(COL5A2):c.3148-285G>A rs12693527 0.70389
NC_000002.12:g.189180039C>T rs11691604 0.57852
NM_000393.5(COL5A2):c.3147+325A>G rs13383261 0.17010
NM_000393.5(COL5A2):c.4113+223G>T rs13393368 0.15132
NM_000393.5(COL5A2):c.1717-76del rs74497802 0.14820
NM_000393.5(COL5A2):c.691-261_691-260dup rs5837123 0.14110
NM_000393.5(COL5A2):c.2716-141G>A rs72902380 0.14080
NM_000393.5(COL5A2):c.3310-164C>T rs72902361 0.14076
NM_000393.5(COL5A2):c.852+14C>T rs56310996 0.14063
NM_000393.5(COL5A2):c.691-58C>T rs60355473 0.14058
NM_000393.5(COL5A2):c.852+59C>A rs55963648 0.14058
NM_000393.5(COL5A2):c.906+62A>C rs57206096 0.14056
NM_000393.5(COL5A2):c.745-130C>T rs60860012 0.14055
NM_000393.5(COL5A2):c.906+178A>G rs55929725 0.14054
NM_000393.5(COL5A2):c.798+127G>A rs58532741 0.14045
NM_000393.5(COL5A2):c.852+161A>G rs55711740 0.14043
NM_000393.5(COL5A2):c.690+169A>G rs72904489 0.14039
NM_000393.5(COL5A2):c.1159-76C>T rs72904419 0.14029
NM_000393.5(COL5A2):c.798+99C>A rs57796506 0.14026
NM_000393.5(COL5A2):c.798+100A>T rs61311233 0.14021
NM_000393.5(COL5A2):c.568-181A>C rs60762885 0.13246
NM_000393.5(COL5A2):c.337-310A>G rs72906375 0.13072
NM_000393.5(COL5A2):c.457-325C>T rs56667101 0.13064
NM_000393.5(COL5A2):c.369+86C>A rs55977069 0.13062
NM_000393.5(COL5A2):c.456+232G>A rs72906354 0.13062
NM_000393.5(COL5A2):c.370-301G>A rs55850163 0.13057
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13056
NM_000393.5(COL5A2):c.568-53C>T rs58243388 0.13056
NM_000393.5(COL5A2):c.337-26T>C rs56380683 0.13043
NM_000393.5(COL5A2):c.337-105A>T rs55765720 0.13042
NM_000393.5(COL5A2):c.2229+235T>A rs72902385 0.13041
NM_000393.5(COL5A2):c.567+275A>G rs72906316 0.13023
NM_000393.5(COL5A2):c.567+182G>T rs72906317 0.12959
NM_000393.5(COL5A2):c.3040-207T>C rs10931391 0.11258
NM_000393.5(COL5A2):c.2031+59T>A rs72904404 0.09421
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_000393.5(COL5A2):c.3525+174A>G rs10207530 0.09308
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_000393.5(COL5A2):c.3926-216T>G rs13421883 0.09265
NM_000393.5(COL5A2):c.3634-213T>A rs13429993 0.09241
NM_000393.5(COL5A2):c.2031+279A>G rs72904403 0.08306
NM_000393.5(COL5A2):c.3472-177T>C rs13392501 0.07978
NM_000393.5(COL5A2):c.3634-124G>A rs72902330 0.07502
NM_000393.5(COL5A2):c.3471+62C>T rs59397955 0.07291
NM_000393.5(COL5A2):c.*298G>A rs7586 0.07221
NM_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539 0.06734
NM_000393.5(COL5A2):c.3633+118G>A rs59631824 0.05276
NM_000393.5(COL5A2):c.3925+279A>G rs77183421 0.05046
NM_000393.5(COL5A2):c.403-42A>G rs73051214 0.04827
NM_000393.5(COL5A2):c.798+258T>C rs13416517 0.04778
NM_000393.5(COL5A2):c.2931+233A>G rs61664338 0.04777
NM_000393.5(COL5A2):c.960+228G>A rs13421370 0.04061
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312 0.03908
NC_000002.12:g.189179936A>G rs7576519 0.03861
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_000393.5(COL5A2):c.4354-137T>C rs56339059 0.02624
NM_000393.5(COL5A2):c.3925+37G>T rs55749146 0.02544
NM_000393.5(COL5A2):c.2031+60A>T rs560894960 0.02531
NM_000393.5(COL5A2):c.3526-97G>A rs115638230 0.01984
NM_000393.5(COL5A2):c.4353+69C>T rs78854855 0.01927
NM_000393.5(COL5A2):c.853-297A>G rs116435277 0.01867
NM_000393.5(COL5A2):c.798+286A>G rs116226024 0.01866
NM_000393.5(COL5A2):c.3040-165G>A rs116497614 0.01845
NM_000393.5(COL5A2):c.2338-24A>G rs73978812 0.01812
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_000393.5(COL5A2):c.1770+287G>A rs73978820 0.01786
NM_000393.5(COL5A2):c.2446-84A>G rs73978810 0.01786
NM_000393.5(COL5A2):c.2715+42C>A rs73978809 0.01784
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_000393.5(COL5A2):c.2932-162G>A rs115735575 0.01548
NM_000393.5(COL5A2):c.2392-41C>T rs114959831 0.01546
NM_000393.5(COL5A2):c.2715+213T>C rs144317055 0.01544
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_000393.5(COL5A2):c.2337+27T>C rs796525607 0.01406
NM_000393.5(COL5A2):c.*1669G>A rs76151083 0.01378
NM_000393.5(COL5A2):c.*1904C>T rs75096234 0.01358
NM_000393.5(COL5A2):c.3633+107C>T rs111645248 0.01357
NM_000393.5(COL5A2):c.4354-175G>C rs79420523 0.01357
NM_000393.5(COL5A2):c.*1960A>G rs76482660 0.01355
NM_000393.5(COL5A2):c.4354-300A>T rs77944362 0.01353
NM_000393.5(COL5A2):c.4353+304C>T rs76648666 0.01351
NM_000393.5(COL5A2):c.3310-108T>C rs188576882 0.01297
NM_000393.5(COL5A2):c.3926-25G>C rs72902319 0.01277
NM_000393.5(COL5A2):c.3926-139T>C rs149056709 0.01276
NM_000393.5(COL5A2):c.799-202G>A rs115671241 0.01234
NM_000393.5(COL5A2):c.1159-227A>C rs116853584 0.01232
NM_000393.5(COL5A2):c.2770-190G>A rs117025177 0.01232
NM_000393.5(COL5A2):c.457-59G>A rs79251854 0.01231
NM_000393.5(COL5A2):c.*46C>A rs112739705 0.01217
NM_000393.5(COL5A2):c.3309+107G>T rs117588489 0.01202
NM_000393.5(COL5A2):c.403-16T>A rs117085226 0.01199
NM_000393.5(COL5A2):c.906+28A>G rs146340989 0.01144
NM_000393.5(COL5A2):c.1977+61G>A rs79568088 0.01049
NM_000393.5(COL5A2):c.798+43C>T rs58624621 0.01038
NM_000393.5(COL5A2):c.2337+143A>G rs73978813 0.01036
NM_000393.5(COL5A2):c.3148-216A>G rs115536167 0.01031
NM_000393.5(COL5A2):c.798+184C>T rs57484527 0.01021
NM_000393.5(COL5A2):c.2230-197G>A rs73978814 0.01007
NM_000393.5(COL5A2):c.3040-40A>G rs114502556 0.01007
NM_000393.5(COL5A2):c.1159-246T>C rs73978826 0.01006
NM_000393.5(COL5A2):c.1104+116T>C rs73978829 0.01005
NM_000393.5(COL5A2):c.2230-255T>C rs115760110 0.01004
NM_000393.5(COL5A2):c.2770-34G>T rs73978807 0.01000
NM_000393.5(COL5A2):c.2337+62G>T rs116016659 0.00952
NM_000393.5(COL5A2):c.1104+115T>C rs145791814 0.00948
NM_000393.5(COL5A2):c.3040-190G>A rs115398478 0.00876
NM_000393.5(COL5A2):c.2553+88G>A rs75042806 0.00875
NM_000393.5(COL5A2):c.3147+331T>A rs143993989 0.00827
NM_000393.5(COL5A2):c.1563+217C>G rs115184225 0.00790
NM_000393.5(COL5A2):c.853-89T>C rs114280344 0.00786
NM_000393.5(COL5A2):c.645+108C>T rs115949351 0.00783
NM_000393.5(COL5A2):c.403-292C>A rs77535435 0.00782
NM_000393.5(COL5A2):c.369+80T>A rs111674411 0.00780
NM_000393.5(COL5A2):c.1104+15T>C rs75486409 0.00772
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_000393.5(COL5A2):c.1005+200C>T rs116351142 0.00769
NM_000393.5(COL5A2):c.1401+281T>G rs147392450 0.00769
NM_000393.5(COL5A2):c.2130+125T>A rs186186367 0.00769
NM_000393.5(COL5A2):c.1006-69G>C rs151293077 0.00768
NM_000393.5(COL5A2):c.2131-29G>C rs79938750 0.00768
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00748
NM_000393.5(COL5A2):c.1402-207T>A rs149453147 0.00717
NM_000393.5(COL5A2):c.3202-62A>G rs146347888 0.00689
NM_000393.5(COL5A2):c.1564-37C>T rs116376785 0.00687
NM_000393.5(COL5A2):c.3309+100C>T rs79111113 0.00687
NM_000393.5(COL5A2):c.1717-86A>G rs189980880 0.00684
NM_000393.5(COL5A2):c.1564-235C>A rs138594699 0.00604
NM_000393.5(COL5A2):c.2229+59G>A rs143651488 0.00574
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000393.5(COL5A2):c.3147+46A>G rs13383588 0.00500
NM_000393.5(COL5A2):c.3926-149C>T rs73049467 0.00483
NM_000393.5(COL5A2):c.2769+287T>C rs13405822 0.00481
NM_000393.5(COL5A2):c.*1852T>C rs116255986 0.00479
NM_000393.5(COL5A2):c.2499+37T>C rs13413060 0.00478
NM_000393.5(COL5A2):c.2445+42T>A rs13413296 0.00476
NM_000393.5(COL5A2):c.690+40C>T rs114482825 0.00465
NM_000393.5(COL5A2):c.370-279G>A rs141185549 0.00429
NM_000393.5(COL5A2):c.3201+263G>A rs10196855 0.00414
NM_000393.5(COL5A2):c.369+167A>T rs73051216 0.00410
NM_000393.5(COL5A2):c.2230-54A>G rs577663975 0.00408
NM_000393.5(COL5A2):c.403-304G>A rs13396958 0.00393
NM_000393.5(COL5A2):c.906+90T>C rs10182959 0.00390
NM_000393.5(COL5A2):c.1257+75A>G rs186264260 0.00388
NM_000393.5(COL5A2):c.568-130C>A rs73051207 0.00354
NM_000393.5(COL5A2):c.403-250C>G rs140475457 0.00337
NM_000393.5(COL5A2):c.1257+55C>T rs190737733 0.00322
NM_000393.5(COL5A2):c.2553+52A>G rs75502372 0.00280
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00199
NM_000393.5(COL5A2):c.1618-19C>G rs189970491 0.00148
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395 0.00119
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_000393.5(COL5A2):c.960+35T>C rs75310549 0.00108
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166 0.00081
NM_000393.5(COL5A2):c.*848T>C rs72902303 0.00076
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954 0.00075
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00069
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916 0.00066
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=) rs143318792 0.00058
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853 0.00051
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030 0.00039
NM_000393.5(COL5A2):c.*904A>C rs778818824 0.00038
NM_000393.5(COL5A2):c.745-13G>A rs145442880 0.00038
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193 0.00033
NM_000393.5(COL5A2):c.852G>A (p.Pro284=) rs150092345 0.00031
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_000393.5(COL5A2):c.3526-45A>T rs529927639 0.00029
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636 0.00026
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765 0.00022
NM_000393.5(COL5A2):c.*939G>T rs539647365 0.00021
NM_000393.5(COL5A2):c.2338-6T>C rs375291199 0.00020
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784 0.00019
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366 0.00019
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627 0.00018
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097 0.00018
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) rs373288848 0.00018
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293 0.00016
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu) rs146175905 0.00016
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855 0.00016
NM_000393.5(COL5A2):c.288T>C (p.Cys96=) rs577308799 0.00016
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn) rs140851866 0.00015
NM_000393.5(COL5A2):c.322+1G>C rs770598613 0.00014
NM_000393.5(COL5A2):c.3925+34G>A rs372307420 0.00014
NM_000393.5(COL5A2):c.2111T>C (p.Val704Ala) rs542643688 0.00013
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00013
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715 0.00013
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000393.5(COL5A2):c.2634A>G (p.Gln878=) rs370304175 0.00011
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858 0.00011
NM_000393.5(COL5A2):c.2855G>A (p.Arg952His) rs139264859 0.00011
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184 0.00011
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843 0.00010
NM_000393.5(COL5A2):c.403-3T>C rs369733690 0.00010
NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=) rs142895373 0.00010
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=) rs372869641 0.00009
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys) rs930378570 0.00009
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly) rs200845884 0.00009
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=) rs760946138 0.00008
NM_000393.5(COL5A2):c.1793G>A (p.Arg598His) rs529317104 0.00007
NM_000393.5(COL5A2):c.2770-6T>C rs770409954 0.00007
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059 0.00007
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337 0.00007
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112 0.00007
NM_000393.5(COL5A2):c.1617+9G>T rs186490845 0.00006
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825 0.00006
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543 0.00006
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys) rs199530997 0.00006
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu) rs150401168 0.00006
NM_000393.5(COL5A2):c.3431A>G (p.His1144Arg) rs1418496907 0.00006
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435 0.00006
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser) rs779153546 0.00006
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397 0.00006
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666 0.00006
NM_000393.5(COL5A2):c.4332C>T (p.Ile1444=) rs138837670 0.00006
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633 0.00006
NM_000393.5(COL5A2):c.985A>G (p.Met329Val) rs140785678 0.00006
NM_000393.5(COL5A2):c.1005+10C>T rs767297800 0.00005
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253 0.00005
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538 0.00005
NM_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys) rs754429372 0.00005
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln) rs761126767 0.00005
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile) rs200703515 0.00005
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817 0.00005
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu) rs755909523 0.00004
NM_000393.5(COL5A2):c.233A>T (p.Asp78Val) rs201022138 0.00004
NM_000393.5(COL5A2):c.3019C>T (p.Pro1007Ser) rs1388564782 0.00004
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=) rs149574060 0.00004
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys) rs745845130 0.00004
NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=) rs201460445 0.00004
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552 0.00004
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=) rs199904322 0.00004
NM_000393.5(COL5A2):c.398C>T (p.Pro133Leu) rs374225489 0.00004
NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His) rs150931608 0.00004
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=) rs142857608 0.00004
NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=) rs371225266 0.00004
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303 0.00004
NM_000393.5(COL5A2):c.1006-8G>A rs200405052 0.00003
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val) rs886039197 0.00003
NM_000393.5(COL5A2):c.1159-7C>A rs377321742 0.00003
NM_000393.5(COL5A2):c.1181C>T (p.Ala394Val) rs370121305 0.00003
NM_000393.5(COL5A2):c.1697C>T (p.Pro566Leu) rs1051400743 0.00003
NM_000393.5(COL5A2):c.1814T>C (p.Ile605Thr) rs746339285 0.00003
NM_000393.5(COL5A2):c.1960G>A (p.Gly654Ser) rs773726323 0.00003
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu) rs189320512 0.00003
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser) rs267599127 0.00003
NM_000393.5(COL5A2):c.3040-9C>A rs377334807 0.00003
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317 0.00003
NM_000393.5(COL5A2):c.3391G>T (p.Gly1131Cys) rs747946828 0.00003
NM_000393.5(COL5A2):c.399G>A (p.Pro133=) rs369867930 0.00003
NM_000393.5(COL5A2):c.4138C>T (p.Pro1380Ser) rs145755198 0.00003
NM_000393.5(COL5A2):c.4320A>T (p.Arg1440Ser) rs1436390158 0.00003
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937 0.00003
NM_000393.5(COL5A2):c.537G>A (p.Pro179=) rs762891893 0.00003
NM_000393.5(COL5A2):c.602A>C (p.Lys201Thr) rs758156613 0.00003
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr) rs200839338 0.00002
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala) rs779614415 0.00002
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357 0.00002
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=) rs765364009 0.00002
NM_000393.5(COL5A2):c.2254C>T (p.Pro752Ser) rs372270389 0.00002
NM_000393.5(COL5A2):c.2337+27_2337+28insC rs1262131748 0.00002
NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser) rs372904150 0.00002
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151 0.00002
NM_000393.5(COL5A2):c.3022G>A (p.Gly1008Ser) rs909634945 0.00002
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702 0.00002
NM_000393.5(COL5A2):c.323G>A (p.Gly108Asp) rs954753747 0.00002
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803 0.00002
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646 0.00002
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro) rs144890303 0.00002
NM_000393.5(COL5A2):c.3471+3A>G rs929722223 0.00002
NM_000393.5(COL5A2):c.3637C>T (p.Pro1213Ser) rs780899667 0.00002
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175 0.00002
NM_000393.5(COL5A2):c.382C>T (p.Arg128Cys) rs1247714244 0.00002
NM_000393.5(COL5A2):c.4114-14C>G rs777751790 0.00002
NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp) rs760569641 0.00002
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln) rs761072017 0.00001
NM_000393.5(COL5A2):c.1159-10A>G rs767892138 0.00001
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val) rs1391129049 0.00001
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=) rs376170776 0.00001
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867 0.00001
NM_000393.5(COL5A2):c.1458G>A (p.Gly486=) rs144540534 0.00001
NM_000393.5(COL5A2):c.1492G>A (p.Gly498Ser) rs780495441 0.00001
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490 0.00001
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn) rs1443765130 0.00001
NM_000393.5(COL5A2):c.1618-8C>T rs746841809 0.00001
NM_000393.5(COL5A2):c.1636G>A (p.Gly546Ser) rs369506320 0.00001
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys) rs730880066 0.00001
NM_000393.5(COL5A2):c.1699G>A (p.Gly567Arg) rs863223503 0.00001
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln) rs760408439 0.00001
NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser) rs544303636 0.00001
NM_000393.5(COL5A2):c.1766C>T (p.Pro589Leu) rs863223505 0.00001
NM_000393.5(COL5A2):c.1892A>G (p.Glu631Gly) rs918877773 0.00001
NM_000393.5(COL5A2):c.1928C>T (p.Ala643Val) rs767643591 0.00001
NM_000393.5(COL5A2):c.1973C>T (p.Pro658Leu) rs746458284 0.00001
NM_000393.5(COL5A2):c.1995A>G (p.Arg665=) rs140541824 0.00001
NM_000393.5(COL5A2):c.1A>G (p.Met1Val) rs563606558 0.00001
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr) rs904166744 0.00001
NM_000393.5(COL5A2):c.2020A>G (p.Thr674Ala) rs1686034098 0.00001
NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr) rs765785677 0.00001
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg) rs772811492 0.00001
NM_000393.5(COL5A2):c.2156G>A (p.Arg719Lys) rs760537680 0.00001
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr) rs372812220 0.00001
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=) rs138457003 0.00001
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln) rs1458760818 0.00001
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379 0.00001
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=) rs200019093 0.00001
NM_000393.5(COL5A2):c.2553+30A>G rs1350030532 0.00001
NM_000393.5(COL5A2):c.2554-5T>C rs373495598 0.00001
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg) rs1064795616 0.00001
NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr) rs760858324 0.00001
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722 0.00001
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=) rs773825862 0.00001
NM_000393.5(COL5A2):c.2808G>T (p.Gly936=) rs141089340 0.00001
NM_000393.5(COL5A2):c.2831G>A (p.Arg944His) rs761988412 0.00001
NM_000393.5(COL5A2):c.2839C>A (p.Pro947Thr) rs1027615025 0.00001
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=) rs372780282 0.00001
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp) rs759604513 0.00001
NM_000393.5(COL5A2):c.2943C>T (p.Gly981=) rs771950850 0.00001
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg) rs1040238147 0.00001
NM_000393.5(COL5A2):c.2981T>C (p.Ile994Thr) rs1354785209 0.00001
NM_000393.5(COL5A2):c.3071C>T (p.Ala1024Val) rs763462242 0.00001
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser) rs187336363 0.00001
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala) rs768663426 0.00001
NM_000393.5(COL5A2):c.3195A>G (p.Gly1065=) rs746246121 0.00001
NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys) rs539362640 0.00001
NM_000393.5(COL5A2):c.3200G>A (p.Arg1067His) rs780705330 0.00001
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser) rs761543775 0.00001
NM_000393.5(COL5A2):c.3317G>A (p.Arg1106Gln) rs369725456 0.00001
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys) rs1386081744 0.00001
NM_000393.5(COL5A2):c.3529C>T (p.Pro1177Ser) rs367939836 0.00001
NM_000393.5(COL5A2):c.353C>G (p.Pro118Arg) rs1224192066 0.00001
NM_000393.5(COL5A2):c.3583C>G (p.Pro1195Ala) rs863223496 0.00001
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu) rs1056466895 0.00001
NM_000393.5(COL5A2):c.3650C>G (p.Pro1217Arg) rs863223509 0.00001
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926 0.00001
NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg) rs773321546 0.00001
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val) rs1064795177 0.00001
NM_000393.5(COL5A2):c.3823C>T (p.Leu1275Phe) rs570175207 0.00001
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) rs752658223 0.00001
NM_000393.5(COL5A2):c.3856G>A (p.Asp1286Asn) rs1194645204 0.00001
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105 0.00001
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr) rs372897632 0.00001
NM_000393.5(COL5A2):c.4076C>T (p.Pro1359Leu) rs745580343 0.00001
NM_000393.5(COL5A2):c.4090C>A (p.Leu1364Ile) rs777866283 0.00001
NM_000393.5(COL5A2):c.4144A>G (p.Thr1382Ala) rs370026245 0.00001
NM_000393.5(COL5A2):c.4238A>G (p.Asp1413Gly) rs1685415466 0.00001
NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr) rs754240060 0.00001
NM_000393.5(COL5A2):c.4369G>A (p.Val1457Met) rs745935107 0.00001
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=) rs531204336 0.00001
NM_000393.5(COL5A2):c.490C>G (p.Pro164Ala) rs1218677057 0.00001
NM_000393.5(COL5A2):c.548G>C (p.Gly183Ala) rs1686805632 0.00001
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073 0.00001
NM_000393.5(COL5A2):c.68C>T (p.Ser23Leu) rs1335028282 0.00001
NM_000393.5(COL5A2):c.712C>T (p.Pro238Ser) rs763287143 0.00001
NM_000393.5(COL5A2):c.859C>T (p.Arg287Cys) rs779241228 0.00001
NM_000393.5(COL5A2):c.961-10T>G rs770126461 0.00001
GRCh37/hg19 2q32.2(chr2:190032724-190040435)x1
NM_000393.5(COL5A2):c.-37del rs922043222
NM_000393.5(COL5A2):c.1056T>G (p.Ala352=) rs863223488
NM_000393.5(COL5A2):c.1059+120del rs5837122
NM_000393.5(COL5A2):c.1081A>G (p.Met361Val) rs76148000
NM_000393.5(COL5A2):c.10A>C (p.Asn4His) rs1426460695
NM_000393.5(COL5A2):c.1102A>G (p.Met368Val)
NM_000393.5(COL5A2):c.1124G>A (p.Gly375Asp) rs886042913
NM_000393.5(COL5A2):c.1167_1181del (p.Gly390_Ala394del)
NM_000393.5(COL5A2):c.1175C>T (p.Thr392Ile) rs1553515880
NM_000393.5(COL5A2):c.1184G>A (p.Arg395Gln) rs766119748
NM_000393.5(COL5A2):c.1228C>T (p.Pro410Ser) rs1042644306
NM_000393.5(COL5A2):c.1238T>C (p.Val413Ala) rs1430271322
NM_000393.5(COL5A2):c.1257+5G>C rs1553515867
NM_000393.5(COL5A2):c.1258-91T>G rs184264860
NM_000393.5(COL5A2):c.1339G>C (p.Gly447Arg)
NM_000393.5(COL5A2):c.1340G>A (p.Gly447Glu) rs2105603621
NM_000393.5(COL5A2):c.1373C>G (p.Thr458Ser) rs863223489
NM_000393.5(COL5A2):c.1397A>C (p.Gln466Pro) rs1021216183
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=) rs1553515794
NM_000393.5(COL5A2):c.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000393.5(COL5A2):c.1475G>A (p.Gly492Asp) rs2105599619
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.1491C>T (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.1580G>A (p.Arg527His) rs1260469713
NM_000393.5(COL5A2):c.162G>T (p.Trp54Cys) rs863223500
NM_000393.5(COL5A2):c.1634G>A (p.Arg545Gln)
NM_000393.5(COL5A2):c.1651T>C (p.Ser551Pro) rs2105594391
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg) rs149203102
NM_000393.5(COL5A2):c.1691G>A (p.Gly564Glu) rs2105594273
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser) rs372910621
NM_000393.5(COL5A2):c.1716+5G>A rs863223504
NM_000393.5(COL5A2):c.1717-241_1717-240insACTTT rs150346155
NM_000393.5(COL5A2):c.1831C>G (p.Pro611Ala) rs1438423994
NM_000393.5(COL5A2):c.1853G>A (p.Gly618Asp) rs751229175
NM_000393.5(COL5A2):c.1924-3T>A rs794727471
NM_000393.5(COL5A2):c.2031+49dup rs369656754
NM_000393.5(COL5A2):c.2031+58T>A
NM_000393.5(COL5A2):c.2031+59del rs369656754
NM_000393.5(COL5A2):c.2031+68del rs111688859
NM_000393.5(COL5A2):c.2032-57T>C rs13416565
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=) rs1553515128
NM_000393.5(COL5A2):c.2072A>C (p.Lys691Thr) rs142224646
NM_000393.5(COL5A2):c.2072A>G (p.Lys691Arg) rs142224646
NM_000393.5(COL5A2):c.2075C>G (p.Pro692Arg) rs863223492
NM_000393.5(COL5A2):c.2086-23dup rs5837121
NM_000393.5(COL5A2):c.2104G>C (p.Gly702Arg)
NM_000393.5(COL5A2):c.2194G>A (p.Gly732Arg) rs1553514917
NM_000393.5(COL5A2):c.2264C>G (p.Thr755Arg) rs2105575372
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu) rs150260969
NM_000393.5(COL5A2):c.2297A>G (p.Glu766Gly) rs2105575251
NM_000393.5(COL5A2):c.2337+29del rs34715449
NM_000393.5(COL5A2):c.2337+9dup rs34715449
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser) rs781215270
NM_000393.5(COL5A2):c.2381A>T (p.Asp794Val) rs2105574022
NM_000393.5(COL5A2):c.2391+5G>A rs1553514799
NM_000393.5(COL5A2):c.2392-228A>C rs114497915
NM_000393.5(COL5A2):c.2471T>A (p.Val824Asp)
NM_000393.5(COL5A2):c.2494A>C (p.Asn832His) rs1576496167
NM_000393.5(COL5A2):c.2507G>C (p.Arg836Pro) rs751683516
NM_000393.5(COL5A2):c.250G>C (p.Asp84His) rs745528957
NM_000393.5(COL5A2):c.2522C>T (p.Pro841Leu) rs2105565020
NM_000393.5(COL5A2):c.2549C>T (p.Pro850Leu) rs863223493
NM_000393.5(COL5A2):c.2553+5A>T rs371072906
NM_000393.5(COL5A2):c.2557C>A (p.Pro853Thr) rs863223506
NM_000393.5(COL5A2):c.2570C>T (p.Pro857Leu) rs938162476
NM_000393.5(COL5A2):c.2614G>A (p.Ala872Thr)
NM_000393.5(COL5A2):c.2627G>A (p.Gly876Glu) rs886039694
NM_000393.5(COL5A2):c.2641G>T (p.Ala881Ser) rs760858324
NM_000393.5(COL5A2):c.2647T>A (p.Ser883Thr)
NM_000393.5(COL5A2):c.2715+4A>G rs1553514423
NM_000393.5(COL5A2):c.2762G>C (p.Gly921Ala) rs150206569
NM_000393.5(COL5A2):c.2764C>G (p.Pro922Ala) rs1349278394
NM_000393.5(COL5A2):c.2770-166_2770-162del rs144410979
NM_000393.5(COL5A2):c.2770-6T>A
NM_000393.5(COL5A2):c.2854C>A (p.Arg952Ser) rs199530997
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.2908G>A (p.Asp970Asn) rs2105558665
NM_000393.5(COL5A2):c.2929C>T (p.Pro977Ser) rs1576494351
NM_000393.5(COL5A2):c.292C>T (p.Gln98Ter) rs2105711947
NM_000393.5(COL5A2):c.2970G>A (p.Gly990=) rs933589600
NM_000393.5(COL5A2):c.2993C>T (p.Pro998Leu) rs863223494
NM_000393.5(COL5A2):c.3001C>T (p.Arg1001Cys) rs863223507
NM_000393.5(COL5A2):c.3002G>C (p.Arg1001Pro)
NM_000393.5(COL5A2):c.3039+282_3039+288del rs11277110
NM_000393.5(COL5A2):c.305G>A (p.Gly102Asp)
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr)
NM_000393.5(COL5A2):c.3109C>T (p.Pro1037Ser) rs1576493048
NM_000393.5(COL5A2):c.3116C>G (p.Ser1039Cys) rs1367927256
NM_000393.5(COL5A2):c.3128T>G (p.Val1043Gly) rs2153507890
NM_000393.5(COL5A2):c.3147+243A>C rs13383366
NM_000393.5(COL5A2):c.3147+295dup rs397811419
NM_000393.5(COL5A2):c.3147+298dup rs5837119
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val) rs778501601
NM_000393.5(COL5A2):c.3202G>A (p.Gly1068Ser) rs1332988061
NM_000393.5(COL5A2):c.3226G>C (p.Ala1076Pro) rs2153507378
NM_000393.5(COL5A2):c.329G>A (p.Gly110Glu) rs863223501
NM_000393.5(COL5A2):c.3307C>A (p.Pro1103Thr) rs1685654238
NM_000393.5(COL5A2):c.3309+5G>A rs2153507363
NM_000393.5(COL5A2):c.3310-132CA[11] rs111268949
NM_000393.5(COL5A2):c.3310-132CA[13] rs111268949
NM_000393.5(COL5A2):c.3331C>T (p.Pro1111Ser) rs1685640502
NM_000393.5(COL5A2):c.3341G>T (p.Arg1114Leu)
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=) rs1553513577
NM_000393.5(COL5A2):c.336+181del rs147860045
NM_000393.5(COL5A2):c.337-152C>G rs55905390
NM_000393.5(COL5A2):c.337-212dup rs143135434
NM_000393.5(COL5A2):c.3382G>T (p.Gly1128Cys)
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln) rs562950263
NM_000393.5(COL5A2):c.3443C>T (p.Thr1148Ile) rs762080305
NM_000393.5(COL5A2):c.3447T>C (p.Gly1149=) rs1576488965
NM_000393.5(COL5A2):c.3472-11T>G
NM_000393.5(COL5A2):c.3490G>T (p.Gly1164Ter)
NM_000393.5(COL5A2):c.3491G>A (p.Gly1164Glu) rs863223508
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe) rs768807471
NM_000393.5(COL5A2):c.3506C>A (p.Pro1169His) rs2153506953
NM_000393.5(COL5A2):c.3524G>A (p.Arg1175Lys)
NM_000393.5(COL5A2):c.3525+207G>A rs10195023
NM_000393.5(COL5A2):c.3544G>T (p.Gly1182Cys) rs1057524163
NM_000393.5(COL5A2):c.3645_3662del (p.Glu1216_Gly1221del) rs1553512960
NM_000393.5(COL5A2):c.3649C>T (p.Pro1217Ser)
NM_000393.5(COL5A2):c.3662G>A (p.Gly1221Asp) rs1064796676
NM_000393.5(COL5A2):c.3691G>A (p.Ala1231Thr)
NM_000393.5(COL5A2):c.3709A>G (p.Met1237Val) rs1685513453
NM_000393.5(COL5A2):c.3713G>A (p.Gly1238Glu) rs2153506528
NM_000393.5(COL5A2):c.3721G>A (p.Asp1241Asn) rs1576486531
NM_000393.5(COL5A2):c.3731T>A (p.Met1244Lys) rs145100971
NM_000393.5(COL5A2):c.3732G>A (p.Met1244Ile) rs780628821
NM_000393.5(COL5A2):c.3755C>T (p.Thr1252Ile)
NM_000393.5(COL5A2):c.3823C>G (p.Leu1275Val)
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val) rs772344964
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp) rs863223497
NM_000393.5(COL5A2):c.4020C>A (p.Asn1340Lys) rs771310130
NM_000393.5(COL5A2):c.403-143T>C rs72906358
NM_000393.5(COL5A2):c.4068C>A (p.Asp1356Glu) rs771590535
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu) rs863223502
NM_000393.5(COL5A2):c.4087G>A (p.Gly1363Ser) rs2153506139
NM_000393.5(COL5A2):c.4106G>A (p.Gly1369Glu) rs759631023
NM_000393.5(COL5A2):c.4113+90del rs142224900
NM_000393.5(COL5A2):c.4133A>G (p.Gln1378Arg) rs863223498
NM_000393.5(COL5A2):c.4152T>C (p.Ile1384=) rs1685417610
NM_000393.5(COL5A2):c.4172G>T (p.Arg1391Leu)
NM_000393.5(COL5A2):c.4235T>C (p.Met1412Thr) rs1037904709
NM_000393.5(COL5A2):c.4241A>G (p.Asp1414Gly)
NM_000393.5(COL5A2):c.4295A>G (p.Asp1432Gly) rs141777954
NM_000393.5(COL5A2):c.4303G>A (p.Ala1435Thr) rs2153505971
NM_000393.5(COL5A2):c.4332C>G (p.Ile1444Met) rs138837670
NM_000393.5(COL5A2):c.4343A>G (p.Asp1448Gly) rs1275257471
NM_000393.5(COL5A2):c.4368T>C (p.Asn1456=) rs1576482924
NM_000393.5(COL5A2):c.4374C>T (p.Gly1458=) rs1553512315
NM_000393.5(COL5A2):c.4417C>T (p.Pro1473Ser)
NM_000393.5(COL5A2):c.4422C>G (p.Ile1474Met)
NM_000393.5(COL5A2):c.4438G>C (p.Val1480Leu) rs863223499
NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser) rs775322653
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.568-166_568-163del rs75422763
NM_000393.5(COL5A2):c.568-276_568-272dup rs141172366
NM_000393.5(COL5A2):c.624_644del (p.Leu210_Gly216del)
NM_000393.5(COL5A2):c.638G>C (p.Gly213Ala) rs753789459
NM_000393.5(COL5A2):c.645+116CATT[6] rs5837124
NM_000393.5(COL5A2):c.682G>A (p.Gly228Arg) rs2105652981
NM_000393.5(COL5A2):c.691G>A (p.Gly231Ser) rs1396123186
NM_000393.5(COL5A2):c.698C>T (p.Ala233Val) rs863223487
NM_000393.5(COL5A2):c.744+9C>T rs1576516888
NM_000393.5(COL5A2):c.745-4T>C rs781426004
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu) rs556805686
NM_000393.5(COL5A2):c.785A>C (p.Lys262Thr) rs1064795517
NM_000393.5(COL5A2):c.852+250G>A rs10166867
NM_000393.5(COL5A2):c.852+309del rs376308674
NM_000393.5(COL5A2):c.861T>G (p.Arg287=) rs1559094497
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val) rs1211991688
NM_000393.5(COL5A2):c.905G>A (p.Arg302Gln) rs545574407
NM_000393.5(COL5A2):c.929C>T (p.Pro310Leu)
NM_000393.5(COL5A2):c.982C>T (p.Pro328Ser)
NM_000393.5(COL5A2):c.986T>C (p.Met329Thr)

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