ClinVar Miner

List of variants in gene COL5A2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1756
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.3411T>C (p.Gly1137=) rs6434312 0.96092
NM_000393.5(COL5A2):c.1311A>G (p.Pro437=) rs2229495 0.95762
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.315C>A (p.Thr105=) rs4128539 0.93266
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.*1402T>G rs11186 0.09269
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.*392T>C rs1131518 0.07495
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.*639G>A rs73981487 0.05878
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.*1165G>A rs13914 0.04890
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.1311= (p.Pro437=) rs2229495 0.04238
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.*2131T>A rs113513554 0.02206
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.4449C>T (p.Gly1483=) rs78905646 0.01586
NM_000393.5(COL5A2):c.*1400A>G rs12886 0.01556
NM_000393.5(COL5A2):c.1006-9C>T rs73978832 0.01552
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.*2062G>A rs77821675 0.01359
NM_000393.5(COL5A2):c.*1904C>T rs75096234 0.01358
NM_000393.5(COL5A2):c.*423C>T rs77413180 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.*1379A>G rs114330868 0.01303
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.*515C>T rs113311693 0.01221
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.98-12T>G rs117917418 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.1400C>T (p.Pro467Leu) rs115570272 0.01007
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.2661+20G>A rs79623676 0.00876
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.-34C>T rs114102476 0.00807
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.2554-14A>G rs142429770 0.00703
NM_000393.5(COL5A2):c.*476T>C rs138670180 0.00689
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.249C>T (p.Ala83=) rs142388534 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.*798A>G rs116775405 0.00567
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.*391A>G rs143552248 0.00486
NM_000393.5(COL5A2):c.3926-149C>T rs73049467 0.00483
NM_000393.5(COL5A2):c.2769+19A>T rs111609220 0.00481
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.2716-4C>T rs111644889 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.*525A>G rs10195176 0.00418
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.*1076G>A rs114123906 0.00382
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.198T>C (p.Asn66=) rs76511879 0.00306
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.4197G>A (p.Gln1399=) rs78870279 0.00221
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00199
NM_000393.5(COL5A2):c.-50C>T rs183260194 0.00192
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.33C>T (p.Leu11=) rs140108893 0.00130
NM_000393.5(COL5A2):c.3039+15C>T rs114619770 0.00125
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.1035G>C (p.Gly345=) rs148786600 0.00118
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_000393.5(COL5A2):c.*436A>G rs149313073 0.00110
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.4173C>G (p.Arg1391=) rs148590409 0.00087
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.3098C>T (p.Pro1033Leu) rs75542756 0.00076
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954 0.00075
NM_000393.5(COL5A2):c.2931+11C>T rs184002749 0.00073
NM_000393.5(COL5A2):c.3364-17C>T rs201720941 0.00070
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.2770-5A>G rs370313198 0.00060
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.798+10C>T rs368165817 0.00047
NM_000393.5(COL5A2):c.1456-20T>C rs150724439 0.00046
NM_000393.5(COL5A2):c.322+18C>G rs201708256 0.00045
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_000393.5(COL5A2):c.-96G>T rs28384400 0.00040
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.3310-17T>A rs201791446 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.*446G>A rs570467727 0.00032
NM_000393.5(COL5A2):c.2230-16T>A rs375334470 0.00031
NM_000393.5(COL5A2):c.852G>A (p.Pro284=) rs150092345 0.00031
NM_000393.5(COL5A2):c.98-13T>A rs376487446 0.00031
NM_000393.5(COL5A2):c.1923+8T>C rs191193125 0.00029
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.1433A>T (p.Glu478Val) rs559110283 0.00024
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765 0.00022
NM_000393.4(COL5A2):c.-176T>A rs570350400 0.00021
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.3885G>A (p.Thr1295=) rs375110673 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.2884C>A (p.Pro962Thr) rs754018138 0.00017
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.961-14T>C rs199880428 0.00016
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn) rs140851866 0.00015
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=) rs763068575 0.00014
NM_000393.5(COL5A2):c.322+1G>C rs770598613 0.00014
NM_000393.5(COL5A2):c.3733C>T (p.Pro1245Ser) rs376971803 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.228C>T (p.Cys76=) rs564136480 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.*561T>C rs564981830 0.00011
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000393.5(COL5A2):c.1977+12T>G rs202204374 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.906+9A>G rs761662868 0.00011
NM_000393.5(COL5A2):c.3039+7A>G rs369227715 0.00010
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.*126A>G rs755412373 0.00009
NM_000393.5(COL5A2):c.*19G>A rs199758990 0.00009
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=) rs372869641 0.00009
NM_000393.5(COL5A2):c.2715+11T>C rs371363636 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.570G>A (p.Pro190=) rs139666335 0.00009
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=) rs760946138 0.00008
NM_000393.5(COL5A2):c.*1961T>C rs886055346 0.00007
NM_000393.5(COL5A2):c.*401A>C rs886055352 0.00007
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.2931+18G>A rs369992922 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.4354-20A>G rs568113641 0.00007
NM_000393.5(COL5A2):c.4383C>G (p.Val1461=) rs368234550 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.1716+9A>G rs201934598 0.00006
NM_000393.5(COL5A2):c.1776G>A (p.Ala592=) rs773332771 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.3969A>C (p.Ala1323=) rs1131429 0.00006
NM_000393.5(COL5A2):c.4114-11T>C rs587780908 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.567+17G>T rs780672109 0.00006
NM_000393.5(COL5A2):c.735T>G (p.Pro245=) rs148851552 0.00006
NM_000393.5(COL5A2):c.906+14A>G rs768645507 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.3201+14C>T rs368713290 0.00005
NM_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys) rs754429372 0.00005
NM_000393.5(COL5A2):c.3309+16A>G rs369424272 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.*211T>A rs776264833 0.00004
NM_000393.5(COL5A2):c.1005+11G>A rs371296580 0.00004
NM_000393.5(COL5A2):c.1105-18T>C rs930742709 0.00004
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu) rs755909523 0.00004
NM_000393.5(COL5A2):c.2292G>A (p.Pro764=) rs751503520 0.00004
NM_000393.5(COL5A2):c.233A>T (p.Asp78Val) rs201022138 0.00004
NM_000393.5(COL5A2):c.2343C>T (p.Gly781=) rs762976916 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.3310-3T>A rs752705717 0.00004
NM_000393.5(COL5A2):c.3525+9del rs1279747855 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.3613G>A (p.Val1205Ile) rs377660244 0.00004
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552 0.00004
NM_000393.5(COL5A2):c.3669G>A (p.Pro1223=) rs760353505 0.00004
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=) rs199904322 0.00004
NM_000393.5(COL5A2):c.3864G>A (p.Ser1288=) rs754605516 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.4453A>C (p.Thr1485Pro) rs11553463 0.00004
NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=) rs371225266 0.00004
NM_000393.5(COL5A2):c.567+7T>C rs755666206 0.00004
NM_000393.5(COL5A2):c.744+18A>G rs373820975 0.00004
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303 0.00004
NM_000393.5(COL5A2):c.907-5C>A rs756538217 0.00004
NM_000393.5(COL5A2):c.-37T>G rs780293852 0.00003
NM_000393.5(COL5A2):c.1005+3A>G rs375809563 0.00003
NM_000393.5(COL5A2):c.1006-8G>A rs200405052 0.00003
NM_000393.5(COL5A2):c.1059+8T>C rs200968159 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.1463A>G (p.His488Arg) rs149305351 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.1869+17A>G rs776780834 0.00003
NM_000393.5(COL5A2):c.1923+11A>G rs368776400 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.2846C>G (p.Ser949Cys) rs201961021 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.3148-15C>T rs901541312 0.00003
NM_000393.5(COL5A2):c.3246G>C (p.Gln1082His) rs1039715132 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.3412G>A (p.Asp1138Asn) rs750574093 0.00003
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064 0.00003
NM_000393.5(COL5A2):c.3717C>T (p.His1239=) rs769790821 0.00003
NM_000393.5(COL5A2):c.3768G>A (p.Ala1256=) rs767144730 0.00003
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His) rs747653593 0.00003
NM_000393.5(COL5A2):c.399G>A (p.Pro133=) rs369867930 0.00003
NM_000393.5(COL5A2):c.4037G>A (p.Arg1346His) rs143163673 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.4333G>A (p.Val1445Ile) rs762653511 0.00003
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp) rs756550702 0.00003
NM_000393.5(COL5A2):c.4408G>A (p.Ala1470Thr) rs753194366 0.00003
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937 0.00003
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys) rs767252151 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.691-4G>A rs767803370 0.00003
NM_000393.5(COL5A2):c.697G>A (p.Ala233Thr) rs148005959 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.1564-8A>T rs776187028 0.00002
NM_000393.5(COL5A2):c.1570C>T (p.Pro524Ser) rs200205564 0.00002
NM_000393.5(COL5A2):c.1618-7G>A rs77456219 0.00002
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357 0.00002
NM_000393.5(COL5A2):c.1716+13C>G rs779517028 0.00002
NM_000393.5(COL5A2):c.1717-3C>T rs760304144 0.00002
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=) rs765364009 0.00002
NM_000393.5(COL5A2):c.2031+3A>G rs201947903 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.2446-17T>G rs774566945 0.00002
NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser) rs372904150 0.00002
NM_000393.5(COL5A2):c.2550C>A (p.Pro850=) rs375877757 0.00002
NM_000393.5(COL5A2):c.2552A>G (p.Gln851Arg) rs1286805423 0.00002
NM_000393.5(COL5A2):c.2661+13G>T rs534626192 0.00002
NM_000393.5(COL5A2):c.2662-13T>G rs764874823 0.00002
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151 0.00002
NM_000393.5(COL5A2):c.293A>G (p.Gln98Arg) rs374402209 0.00002
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=) rs1060504380 0.00002
NM_000393.5(COL5A2):c.3022G>A (p.Gly1008Ser) rs909634945 0.00002
NM_000393.5(COL5A2):c.3040-8T>C rs886055355 0.00002
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser) rs773168254 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.3325A>G (p.Ile1109Val) rs766499543 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.3363+18G>T rs1465568437 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.3739C>A (p.Pro1247Thr) rs1243023432 0.00002
NM_000393.5(COL5A2):c.3792G>A (p.Thr1264=) rs773058827 0.00002
NM_000393.5(COL5A2):c.3826A>G (p.Ser1276Gly) rs555111281 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.4163C>G (p.Thr1388Ser) rs771415085 0.00002
NM_000393.5(COL5A2):c.4239C>T (p.Asp1413=) rs529257786 0.00002
NM_000393.5(COL5A2):c.4251G>A (p.Lys1417=) rs965891508 0.00002
NM_000393.5(COL5A2):c.4346C>A (p.Thr1449Asn) rs550723518 0.00002
NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp) rs760569641 0.00002
NM_000393.5(COL5A2):c.44T>C (p.Ile15Thr) rs369394572 0.00002
NM_000393.5(COL5A2):c.568-11C>T rs375129913 0.00002
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198 0.00002
NM_000393.5(COL5A2):c.799-6A>G rs111586240 0.00002
NM_000393.5(COL5A2):c.906+10A>T rs776578452 0.00002
NM_000393.5(COL5A2):c.*1460A>T rs886055349 0.00001
NM_000393.5(COL5A2):c.*1970T>G rs548360577 0.00001
NM_000393.5(COL5A2):c.1010C>T (p.Pro337Leu) rs766349082 0.00001
NM_000393.5(COL5A2):c.1011G>A (p.Pro337=) rs762983955 0.00001
NM_000393.5(COL5A2):c.1040T>A (p.Leu347His) rs1356274894 0.00001
NM_000393.5(COL5A2):c.1059+13G>C rs1559093269 0.00001
NM_000393.5(COL5A2):c.1059+15T>C rs772728428 0.00001
NM_000393.5(COL5A2):c.1059+9A>G rs776100559 0.00001
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln) rs761072017 0.00001
NM_000393.5(COL5A2):c.1076A>G (p.His359Arg) rs760117362 0.00001
NM_000393.5(COL5A2):c.1158+14G>A rs1057523022 0.00001
NM_000393.5(COL5A2):c.1159-10A>G rs767892138 0.00001
NM_000393.5(COL5A2):c.1159-13T>C rs756321922 0.00001
NM_000393.5(COL5A2):c.1188C>T (p.Gly396=) rs863223485 0.00001
NM_000393.5(COL5A2):c.1246C>G (p.Pro416Ala) rs1412825331 0.00001
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val) rs1391129049 0.00001
NM_000393.5(COL5A2):c.1302+9T>C rs1199559237 0.00001
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=) rs376170776 0.00001
NM_000393.5(COL5A2):c.1303-16T>A rs1057524650 0.00001
NM_000393.5(COL5A2):c.1343C>T (p.Pro448Leu) rs757674141 0.00001
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867 0.00001
NM_000393.5(COL5A2):c.1365G>A (p.Gln455=) rs1200615943 0.00001
NM_000393.5(COL5A2):c.1391G>A (p.Arg464Gln) rs1553515798 0.00001
NM_000393.5(COL5A2):c.142T>C (p.Tyr48His) rs750126490 0.00001
NM_000393.5(COL5A2):c.1456-10T>C rs918840882 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.1527A>C (p.Pro509=) rs202234821 0.00001
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=) rs770622592 0.00001
NM_000393.5(COL5A2):c.1563+5A>G rs777118100 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.1611G>A (p.Gly537=) rs1686117535 0.00001
NM_000393.5(COL5A2):c.1618-17G>A rs1272843185 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.1681G>A (p.Gly561Arg) rs1184276149 0.00001
NM_000393.5(COL5A2):c.1685G>A (p.Arg562His) rs1199481029 0.00001
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys) rs730880066 0.00001
NM_000393.5(COL5A2):c.1698T>G (p.Pro566=) rs1483483512 0.00001
NM_000393.5(COL5A2):c.1699G>A (p.Gly567Arg) rs863223503 0.00001
NM_000393.5(COL5A2):c.1704T>C (p.Leu568=) rs776228988 0.00001
NM_000393.5(COL5A2):c.1714C>T (p.Arg572Trp) rs768322852 0.00001
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln) rs760408439 0.00001
NM_000393.5(COL5A2):c.1716+12G>A rs745767713 0.00001
NM_000393.5(COL5A2):c.1738G>A (p.Val580Ile) rs771004951 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.2002C>A (p.Gln668Lys) rs144652675 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.2031+14C>T rs749030256 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.2121A>G (p.Leu707=) rs1247190308 0.00001
NM_000393.5(COL5A2):c.2130A>G (p.Arg710=) rs1451386429 0.00001
NM_000393.5(COL5A2):c.2131-16C>T rs1187598016 0.00001
NM_000393.5(COL5A2):c.2131-5G>T rs1219841781 0.00001
NM_000393.5(COL5A2):c.2138G>A (p.Arg713Gln) rs776302656 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.2229+10A>G rs1269243284 0.00001
NM_000393.5(COL5A2):c.2272C>G (p.Pro758Ala) rs753363765 0.00001
NM_000393.5(COL5A2):c.2308G>T (p.Ala770Ser) rs1244308550 0.00001
NM_000393.5(COL5A2):c.2322C>A (p.Gly774=) rs549187703 0.00001
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=) rs138457003 0.00001
NM_000393.5(COL5A2):c.2338-10G>A rs1017894646 0.00001
NM_000393.5(COL5A2):c.2344A>G (p.Ile782Val) rs1270917752 0.00001
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val) rs746454126 0.00001
NM_000393.5(COL5A2):c.2392-18T>C rs746722538 0.00001
NM_000393.5(COL5A2):c.2392-4A>G rs758314268 0.00001
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln) rs1458760818 0.00001
NM_000393.5(COL5A2):c.2400A>G (p.Pro800=) rs1335810893 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.2486C>T (p.Ser829Phe) rs771633594 0.00001
NM_000393.5(COL5A2):c.2488C>T (p.Arg830Trp) rs778544623 0.00001
NM_000393.5(COL5A2):c.2499+18G>T rs1275018864 0.00001
NM_000393.5(COL5A2):c.2500-12G>T rs749087232 0.00001
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn) rs745528957 0.00001
NM_000393.5(COL5A2):c.2511T>C (p.Gly837=) rs1192759045 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.2595G>C (p.Glu865Asp) rs746155819 0.00001
NM_000393.5(COL5A2):c.260C>T (p.Thr87Met) rs778591411 0.00001
NM_000393.5(COL5A2):c.2623C>T (p.Pro875Ser) rs754389345 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.270G>A (p.Gly90=) rs756103588 0.00001
NM_000393.5(COL5A2):c.2715+12T>G rs369677461 0.00001
NM_000393.5(COL5A2):c.2715+16G>A rs774654781 0.00001
NM_000393.5(COL5A2):c.2715+18T>G rs781686307 0.00001
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=) rs773825862 0.00001
NM_000393.5(COL5A2):c.2745C>A (p.Gly915=) rs778360315 0.00001
NM_000393.5(COL5A2):c.2756C>T (p.Pro919Leu) rs1388047059 0.00001
NM_000393.5(COL5A2):c.2782C>T (p.Pro928Ser) rs1189019903 0.00001
NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val) rs747843876 0.00001
NM_000393.5(COL5A2):c.2791C>T (p.Pro931Ser) rs1182035468 0.00001
NM_000393.5(COL5A2):c.2800G>C (p.Glu934Gln) rs751499848 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.283G>C (p.Val95Leu) rs1200990468 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.2940T>C (p.Asp980=) rs1685766903 0.00001
NM_000393.5(COL5A2):c.2943C>T (p.Gly981=) rs771950850 0.00001
NM_000393.5(COL5A2):c.2967C>T (p.Thr989=) rs757271535 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.2988C>T (p.Gly996=) rs201299226 0.00001
NM_000393.5(COL5A2):c.2997G>A (p.Gly999=) rs777896102 0.00001
NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=) rs756259584 0.00001
NM_000393.5(COL5A2):c.302G>A (p.Gly101Glu) rs777070552 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.3162T>C (p.Asn1054=) rs769755441 0.00001
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala) rs768663426 0.00001
NM_000393.5(COL5A2):c.316A>G (p.Asn106Asp) rs1449512324 0.00001
NM_000393.5(COL5A2):c.3195A>G (p.Gly1065=) rs746246121 0.00001
NM_000393.5(COL5A2):c.3196G>A (p.Glu1066Lys) rs779213867 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.3201+8C>A rs751150447 0.00001
NM_000393.5(COL5A2):c.323-15C>G rs766670107 0.00001
NM_000393.5(COL5A2):c.324T>C (p.Gly108=) rs201881801 0.00001
NM_000393.5(COL5A2):c.3250G>A (p.Ala1084Thr) rs1432653441 0.00001
NM_000393.5(COL5A2):c.3252C>T (p.Ala1084=) rs1576490715 0.00001
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser) rs761543775 0.00001
NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp) rs770974455 0.00001
NM_000393.5(COL5A2):c.3290C>T (p.Ala1097Val) rs1162768110 0.00001
NM_000393.5(COL5A2):c.3299G>C (p.Arg1100Thr) rs942673350 0.00001
NM_000393.5(COL5A2):c.3317G>A (p.Arg1106Gln) rs369725456 0.00001
NM_000393.5(COL5A2):c.3330A>G (p.Gly1110=) rs928228342 0.00001
NM_000393.5(COL5A2):c.3336T>A (p.Pro1112=) rs773532298 0.00001
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys) rs1386081744 0.00001
NM_000393.5(COL5A2):c.3363+2T>C rs1559076442 0.00001
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys) rs886055354 0.00001
NM_000393.5(COL5A2):c.3406C>A (p.Arg1136=) rs754843093 0.00001
NM_000393.5(COL5A2):c.3465C>T (p.Gly1155=) rs574148843 0.00001
NM_000393.5(COL5A2):c.3472-16T>C rs1057522404 0.00001
NM_000393.5(COL5A2):c.3513A>G (p.Pro1171=) rs754108091 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.3582G>A (p.Gly1194=) rs140022057 0.00001
NM_000393.5(COL5A2):c.3583C>G (p.Pro1195Ala) rs863223496 0.00001
NM_000393.5(COL5A2):c.3586A>G (p.Ile1196Val) rs1271802995 0.00001
NM_000393.5(COL5A2):c.3611G>A (p.Ser1204Asn) rs1060501907 0.00001
NM_000393.5(COL5A2):c.3633+12A>G rs886055353 0.00001
NM_000393.5(COL5A2):c.3633+14G>T rs776087725 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.3791C>T (p.Thr1264Met) rs762902468 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.3832C>A (p.Gln1278Lys) rs147767226 0.00001
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) rs752658223 0.00001
NM_000393.5(COL5A2):c.383G>A (p.Arg128His) rs757439328 0.00001
NM_000393.5(COL5A2):c.3856G>A (p.Asp1286Asn) rs1194645204 0.00001
NM_000393.5(COL5A2):c.3877G>T (p.Ala1293Ser) rs766162092 0.00001
NM_000393.5(COL5A2):c.3880C>T (p.Arg1294Cys) rs758136981 0.00001
NM_000393.5(COL5A2):c.3881G>A (p.Arg1294His) rs150063612 0.00001
NM_000393.5(COL5A2):c.3883A>G (p.Thr1295Ala) rs765068787 0.00001
NM_000393.5(COL5A2):c.3889G>A (p.Asp1297Asn) rs1553512886 0.00001
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105 0.00001
NM_000393.5(COL5A2):c.3908A>G (p.His1303Arg) rs138900123 0.00001
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr) rs372897632 0.00001
NM_000393.5(COL5A2):c.3925+17C>T rs1685506449 0.00001
NM_000393.5(COL5A2):c.4076C>T (p.Pro1359Leu) rs745580343 0.00001
NM_000393.5(COL5A2):c.4085A>G (p.Tyr1362Cys) rs141206016 0.00001
NM_000393.5(COL5A2):c.4089T>G (p.Gly1363=) rs753760854 0.00001
NM_000393.5(COL5A2):c.4090C>A (p.Leu1364Ile) rs777866283 0.00001
NM_000393.5(COL5A2):c.4114-17A>G rs778711548 0.00001
NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=) rs755092575 0.00001
NM_000393.5(COL5A2):c.4144A>G (p.Thr1382Ala) rs370026245 0.00001
NM_000393.5(COL5A2):c.4153A>G (p.Thr1385Ala) rs1169417653 0.00001
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg) rs754932150 0.00001
NM_000393.5(COL5A2):c.4238A>G (p.Asp1413Gly) rs1685415466 0.00001
NM_000393.5(COL5A2):c.4297A>T (p.Ile1433Phe) rs1409867440 0.00001
NM_000393.5(COL5A2):c.4307A>G (p.Glu1436Gly) rs371259794 0.00001
NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr) rs754240060 0.00001
NM_000393.5(COL5A2):c.4324C>T (p.Arg1442Trp) rs146982082 0.00001
NM_000393.5(COL5A2):c.4353+9T>C rs776352996 0.00001
NM_000393.5(COL5A2):c.4369G>A (p.Val1457Met) rs745935107 0.00001
NM_000393.5(COL5A2):c.4411C>T (p.Arg1471Cys) rs1430667498 0.00001
NM_000393.5(COL5A2):c.4412G>A (p.Arg1471His) rs781760462 0.00001
NM_000393.5(COL5A2):c.4416G>A (p.Leu1472=) rs1193385199 0.00001
NM_000393.5(COL5A2):c.4420A>G (p.Ile1474Val) rs1163031439 0.00001
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=) rs531204336 0.00001
NM_000393.5(COL5A2):c.464G>A (p.Arg155His) rs754702218 0.00001
NM_000393.5(COL5A2):c.490C>G (p.Pro164Ala) rs1218677057 0.00001
NM_000393.5(COL5A2):c.491C>A (p.Pro164Gln) rs1288294024 0.00001
NM_000393.5(COL5A2):c.528T>A (p.Pro176=) rs751404827 0.00001
NM_000393.5(COL5A2):c.536C>T (p.Pro179Leu) rs766179958 0.00001
NM_000393.5(COL5A2):c.548G>C (p.Gly183Ala) rs1686805632 0.00001
NM_000393.5(COL5A2):c.587C>A (p.Ala196Asp) rs746671710 0.00001
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073 0.00001
NM_000393.5(COL5A2):c.615G>A (p.Gly205=) rs757199738 0.00001
NM_000393.5(COL5A2):c.64G>A (p.Val22Ile) rs746289356 0.00001
NM_000393.5(COL5A2):c.687G>A (p.Gln229=) rs1010903537 0.00001
NM_000393.5(COL5A2):c.68C>T (p.Ser23Leu) rs1335028282 0.00001
NM_000393.5(COL5A2):c.690+17T>C rs1171215082 0.00001
NM_000393.5(COL5A2):c.690+9C>G rs745863682 0.00001
NM_000393.5(COL5A2):c.691-15T>G rs756189756 0.00001
NM_000393.5(COL5A2):c.712C>T (p.Pro238Ser) rs763287143 0.00001
NM_000393.5(COL5A2):c.722A>G (p.Glu241Gly) rs773748617 0.00001
NM_000393.5(COL5A2):c.798+15C>T rs1476791697 0.00001
NM_000393.5(COL5A2):c.798+5G>A rs1296613540 0.00001
NM_000393.5(COL5A2):c.799-7C>A rs879227018 0.00001
NM_000393.5(COL5A2):c.852+4A>T rs376981154 0.00001
NM_000393.5(COL5A2):c.856G>A (p.Ala286Thr) rs146648810 0.00001
NM_000393.5(COL5A2):c.859C>T (p.Arg287Cys) rs779241228 0.00001
NM_000393.5(COL5A2):c.86A>G (p.Glu29Gly) rs780865605 0.00001
NM_000393.5(COL5A2):c.878C>T (p.Pro293Leu) rs754230712 0.00001
NM_000393.5(COL5A2):c.911A>G (p.His304Arg) rs1576513195 0.00001
NM_000393.5(COL5A2):c.961-10T>G rs770126461 0.00001
NM_000393.5(COL5A2):c.969T>C (p.Ala323=) rs781515066 0.00001
GRCh37/hg19 2q32.2(chr2:189895110-189961917)
GRCh37/hg19 2q32.2(chr2:190032724-190040435)x1
NC_000002.11:g.(?_189898796)_(189953518_?)dup
NC_000002.11:g.(?_189913190)_(189918176_?)del
NC_000002.12:g.(?_189078506)_(189081053_?)del
NC_000002.12:g.(?_189100087)_(189100159_?)del
NM_000393.5(COL5A2):c.*1331C>G rs146947961
NM_000393.5(COL5A2):c.*1465G>T rs886055348
NM_000393.5(COL5A2):c.*1668C>G rs772852972
NM_000393.5(COL5A2):c.*1764G>T rs554165132
NM_000393.5(COL5A2):c.*1894C>A rs886055347
NM_000393.5(COL5A2):c.*589_*590del rs200554257
NM_000393.5(COL5A2):c.*590dup rs200554257
NM_000393.5(COL5A2):c.*694TA[1] rs886055351
NM_000393.5(COL5A2):c.*716A>G rs886055350
NM_000393.5(COL5A2):c.-16_-15insCTAACCCACATCAT rs765138557
NM_000393.5(COL5A2):c.-37del rs922043222
NM_000393.5(COL5A2):c.1005+4T>C
NM_000393.5(COL5A2):c.1005+5G>T rs752557532
NM_000393.5(COL5A2):c.1005+7G>A rs1402008959
NM_000393.5(COL5A2):c.1006-11A>G
NM_000393.5(COL5A2):c.1006-19del
NM_000393.5(COL5A2):c.1006-20T>C
NM_000393.5(COL5A2):c.1006-9C>G rs73978832
NM_000393.5(COL5A2):c.1010C>A (p.Pro337Gln) rs766349082
NM_000393.5(COL5A2):c.1015G>A (p.Gly339Arg)
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser) rs538602187
NM_000393.5(COL5A2):c.1035G>A (p.Gly345=)
NM_000393.5(COL5A2):c.1045C>T (p.Pro349Ser)
NM_000393.5(COL5A2):c.1056T>G (p.Ala352=) rs863223488
NM_000393.5(COL5A2):c.1059+11_1059+12del
NM_000393.5(COL5A2):c.1059+120del rs5837122
NM_000393.5(COL5A2):c.1059+6T>C
NM_000393.5(COL5A2):c.1059+8T>G
NM_000393.5(COL5A2):c.1060-7T>C rs754055737
NM_000393.5(COL5A2):c.1065A>C (p.Gln355His)
NM_000393.5(COL5A2):c.1066C>T (p.Arg356Ter)
NM_000393.5(COL5A2):c.1070G>A (p.Gly357Asp)
NM_000393.5(COL5A2):c.1074A>C (p.Ala358=)
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.10A>G (p.Asn4Asp)
NM_000393.5(COL5A2):c.1102A>C (p.Met368Leu) rs776312058
NM_000393.5(COL5A2):c.1102A>G (p.Met368Val)
NM_000393.5(COL5A2):c.1105-11T>G rs1057523251
NM_000393.5(COL5A2):c.1105-13T>A
NM_000393.5(COL5A2):c.1105-3T>C rs886038289
NM_000393.5(COL5A2):c.1105G>A (p.Gly369Ser)
NM_000393.5(COL5A2):c.1106G>C (p.Gly369Ala)
NM_000393.5(COL5A2):c.1119A>G (p.Ile373Met)
NM_000393.5(COL5A2):c.1122A>G (p.Pro374=)
NM_000393.5(COL5A2):c.1124G>A (p.Gly375Asp) rs886042913
NM_000393.5(COL5A2):c.1126T>C (p.Ser376Pro)
NM_000393.5(COL5A2):c.1139C>T (p.Pro380Leu) rs1576507871
NM_000393.5(COL5A2):c.1158+20A>G
NM_000393.5(COL5A2):c.1158+3A>G
NM_000393.5(COL5A2):c.1158G>A (p.Lys386=) rs2105613322
NM_000393.5(COL5A2):c.1159-11C>T
NM_000393.5(COL5A2):c.1159-12G>C
NM_000393.5(COL5A2):c.1159-16C>T
NM_000393.5(COL5A2):c.1159-18C>T
NM_000393.5(COL5A2):c.1159-1G>A
NM_000393.5(COL5A2):c.1159-60_2031+62dup
NM_000393.5(COL5A2):c.1159-8C>T rs1273116792
NM_000393.5(COL5A2):c.1165G>T (p.Ala389Ser)
NM_000393.5(COL5A2):c.1167_1181del (p.Gly390_Ala394del)
NM_000393.5(COL5A2):c.1171C>T (p.Pro391Ser) rs2105605678
NM_000393.5(COL5A2):c.1171_1172delinsGT (p.Pro391Val)
NM_000393.5(COL5A2):c.1175C>T (p.Thr392Ile) rs1553515880
NM_000393.5(COL5A2):c.1179G>A (p.Gly393=) rs1553515878
NM_000393.5(COL5A2):c.117A>T (p.Ile39=) rs1060504379
NM_000393.5(COL5A2):c.1184G>A (p.Arg395Gln) rs766119748
NM_000393.5(COL5A2):c.1186G>C (p.Gly396Arg) rs1686209873
NM_000393.5(COL5A2):c.118G>A (p.Ala40Thr) rs1559108874
NM_000393.5(COL5A2):c.1190C>T (p.Pro397Leu) rs1189039397
NM_000393.5(COL5A2):c.1198C>G (p.Pro400Ala)
NM_000393.5(COL5A2):c.119C>T (p.Ala40Val) rs758092388
NM_000393.5(COL5A2):c.1203G>A (p.Gln401=)
NM_000393.5(COL5A2):c.1205G>A (p.Gly402Glu)
NM_000393.5(COL5A2):c.1210A>G (p.Arg404Gly) rs1686209467
NM_000393.5(COL5A2):c.1216G>A (p.Glu406Lys)
NM_000393.5(COL5A2):c.1217A>T (p.Glu406Val)
NM_000393.5(COL5A2):c.1228C>T (p.Pro410Ser) rs1042644306
NM_000393.5(COL5A2):c.1229C>T (p.Pro410Leu)
NM_000393.5(COL5A2):c.1238T>C (p.Val413Ala) rs1430271322
NM_000393.5(COL5A2):c.1244C>G (p.Ser415Cys)
NM_000393.5(COL5A2):c.1244C>T (p.Ser415Phe)
NM_000393.5(COL5A2):c.1246C>T (p.Pro416Ser) rs1412825331
NM_000393.5(COL5A2):c.1255C>T (p.Pro419Ser) rs1245178744
NM_000393.5(COL5A2):c.1257+11A>G
NM_000393.5(COL5A2):c.1257+12G>A rs759316090
NM_000393.5(COL5A2):c.1257+13C>A
NM_000393.5(COL5A2):c.1257+5G>C rs1553515867
NM_000393.5(COL5A2):c.1258-91T>G rs184264860
NM_000393.5(COL5A2):c.1261G>T (p.Ala421Ser)
NM_000393.5(COL5A2):c.1289C>G (p.Ala430Gly)
NM_000393.5(COL5A2):c.1301C>A (p.Thr434Lys) rs145850743
NM_000393.5(COL5A2):c.1302+17T>C
NM_000393.5(COL5A2):c.1302+20C>T
NM_000393.5(COL5A2):c.1303-8T>C
NM_000393.5(COL5A2):c.1303G>A (p.Gly435Ser)
NM_000393.5(COL5A2):c.1307C>T (p.Ser436Phe)
NM_000393.5(COL5A2):c.1308T>C (p.Ser436=)
NM_000393.5(COL5A2):c.1310_1311inv (p.Pro437Leu)
NM_000393.5(COL5A2):c.131A>C (p.Asn44Thr)
NM_000393.5(COL5A2):c.1324C>T (p.Pro442Ser) rs1008978987
NM_000393.5(COL5A2):c.1332_1349del (p.Ala446_Ser451del) rs1686191596
NM_000393.5(COL5A2):c.1339G>C (p.Gly447Arg)
NM_000393.5(COL5A2):c.1340G>A (p.Gly447Glu) rs2105603621
NM_000393.5(COL5A2):c.134G>A (p.Gly45Asp)
NM_000393.5(COL5A2):c.1350A>G (p.Gly450=) rs886055357
NM_000393.5(COL5A2):c.1350A>T (p.Gly450=)
NM_000393.5(COL5A2):c.1351T>C (p.Ser451Pro) rs548441536
NM_000393.5(COL5A2):c.1354C>T (p.Pro452Ser)
NM_000393.5(COL5A2):c.1360C>T (p.Pro454Ser) rs1686191057
NM_000393.5(COL5A2):c.1361C>T (p.Pro454Leu)
NM_000393.5(COL5A2):c.1366G>T (p.Gly456Cys) rs2105603501
NM_000393.5(COL5A2):c.1369A>G (p.Ser457Gly) rs1686190878
NM_000393.5(COL5A2):c.136C>G (p.Gln46Glu)
NM_000393.5(COL5A2):c.1372A>T (p.Thr458Ser)
NM_000393.5(COL5A2):c.1373C>G (p.Thr458Ser) rs863223489
NM_000393.5(COL5A2):c.1379C>T (p.Pro460Leu) rs2105603424
NM_000393.5(COL5A2):c.1394G>T (p.Gly465Val) rs886039081
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.1402-10T>A
NM_000393.5(COL5A2):c.1402-13A>G
NM_000393.5(COL5A2):c.1402-17C>T
NM_000393.5(COL5A2):c.1402-2A>G
NM_000393.5(COL5A2):c.1402-3C>T
NM_000393.5(COL5A2):c.1402-5T>C
NM_000393.5(COL5A2):c.1404T>C (p.Gly468=) rs1686161677
NM_000393.5(COL5A2):c.1406A>G (p.Asp469Gly) rs1553515681
NM_000393.5(COL5A2):c.1414G>A (p.Val472Ile)
NM_000393.5(COL5A2):c.141G>A (p.Met47Ile) rs1553519048
NM_000393.5(COL5A2):c.1440C>T (p.Gly480=) rs368133226
NM_000393.5(COL5A2):c.1442C>T (p.Pro481Leu)
NM_000393.5(COL5A2):c.1443A>C (p.Pro481=) rs1686160458
NM_000393.5(COL5A2):c.1451A>C (p.Glu484Ala)
NM_000393.5(COL5A2):c.1453C>A (p.Pro485Thr)
NM_000393.5(COL5A2):c.1453C>G (p.Pro485Ala)
NM_000393.5(COL5A2):c.1455+20A>T rs2105600190
NM_000393.5(COL5A2):c.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000393.5(COL5A2):c.1455+6del rs763475800
NM_000393.5(COL5A2):c.1456-11G>A
NM_000393.5(COL5A2):c.1456-16C>T
NM_000393.5(COL5A2):c.1456-17C>A
NM_000393.5(COL5A2):c.1456-3C>G
NM_000393.5(COL5A2):c.1456G>A (p.Gly486Arg)
NM_000393.5(COL5A2):c.1458G>T (p.Gly486=)
NM_000393.5(COL5A2):c.1459C>T (p.Pro487Ser)
NM_000393.5(COL5A2):c.1463A>C (p.His488Pro) rs149305351
NM_000393.5(COL5A2):c.1464T>C (p.His488=)
NM_000393.5(COL5A2):c.1466G>A (p.Gly489Asp)
NM_000393.5(COL5A2):c.1475G>A (p.Gly492Asp) rs2105599619
NM_000393.5(COL5A2):c.1479G>A (p.Pro493=)
NM_000393.5(COL5A2):c.1487C>A (p.Pro496Gln)
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.1494T>C (p.Gly498=)
NM_000393.5(COL5A2):c.1502G>A (p.Gly501Asp)
NM_000393.5(COL5A2):c.150C>T (p.Asn50=) rs1559108847
NM_000393.5(COL5A2):c.1514C>T (p.Pro505Leu) rs1234716349
NM_000393.5(COL5A2):c.1515C>T (p.Pro505=)
NM_000393.5(COL5A2):c.1518A>T (p.Arg506Ser) rs1553515645
NM_000393.5(COL5A2):c.151A>C (p.Arg51=)
NM_000393.5(COL5A2):c.1524C>T (p.Asp508=)
NM_000393.5(COL5A2):c.1529G>A (p.Gly510Glu)
NM_000393.5(COL5A2):c.1532C>G (p.Thr511Arg)
NM_000393.5(COL5A2):c.1534G>A (p.Val512Ile) rs1022068246
NM_000393.5(COL5A2):c.1539T>C (p.Gly513=)
NM_000393.5(COL5A2):c.153G>A (p.Arg51=) rs1057523986
NM_000393.5(COL5A2):c.1541C>T (p.Pro514Leu)
NM_000393.5(COL5A2):c.1550C>T (p.Pro517Leu) rs371125581
NM_000393.5(COL5A2):c.1555G>A (p.Gly519Arg)
NM_000393.5(COL5A2):c.1561A>G (p.Arg521Gly)
NM_000393.5(COL5A2):c.1563+11A>G
NM_000393.5(COL5A2):c.1563+2T>G
NM_000393.5(COL5A2):c.1575C>T (p.Gly525=)
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser) rs1553515522
NM_000393.5(COL5A2):c.1580G>A (p.Arg527His) rs1260469713
NM_000393.5(COL5A2):c.1583G>A (p.Gly528Asp) rs2105595796
NM_000393.5(COL5A2):c.1588C>G (p.Pro530Ala) rs772872008
NM_000393.5(COL5A2):c.1596T>G (p.Ser532=)
NM_000393.5(COL5A2):c.1613C>G (p.Pro538Arg) rs1576503605
NM_000393.5(COL5A2):c.1617+12del
NM_000393.5(COL5A2):c.1617+17A>G
NM_000393.5(COL5A2):c.1617+4A>G rs1553515517
NM_000393.5(COL5A2):c.1617+8T>G
NM_000393.5(COL5A2):c.1617+9G>A
NM_000393.5(COL5A2):c.1617G>T (p.Lys539Asn)
NM_000393.5(COL5A2):c.1621G>A (p.Ala541Thr)
NM_000393.5(COL5A2):c.1625A>T (p.Gln542Leu)
NM_000393.5(COL5A2):c.1626A>G (p.Gln542=) rs745880832
NM_000393.5(COL5A2):c.1627G>A (p.Gly543Arg)
NM_000393.5(COL5A2):c.162G>T (p.Trp54Cys) rs863223500
NM_000393.5(COL5A2):c.1634G>A (p.Arg545Gln)
NM_000393.5(COL5A2):c.1642G>A (p.Val548Ile)
NM_000393.5(COL5A2):c.1645G>C (p.Gly549Arg) rs778171609
NM_000393.5(COL5A2):c.1651T>C (p.Ser551Pro) rs2105594391
NM_000393.5(COL5A2):c.1653A>G (p.Ser551=)
NM_000393.5(COL5A2):c.1658C>A (p.Pro553His) rs149203102
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg) rs149203102
NM_000393.5(COL5A2):c.1674G>T (p.Gly558=)
NM_000393.5(COL5A2):c.1677T>A (p.Asp559Glu)
NM_000393.5(COL5A2):c.167C>T (p.Pro56Leu)
NM_000393.5(COL5A2):c.1680A>C (p.Pro560=)
NM_000393.5(COL5A2):c.1684C>G (p.Arg562Gly)
NM_000393.5(COL5A2):c.1691G>A (p.Gly564Glu) rs2105594273
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.5(COL5A2):c.16G>A (p.Ala6Thr)
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser) rs372910621
NM_000393.5(COL5A2):c.1701G>A (p.Gly567=) rs1576503230
NM_000393.5(COL5A2):c.1715G>C (p.Arg572Pro) rs760408439
NM_000393.5(COL5A2):c.1716+13C>T
NM_000393.5(COL5A2):c.1716+5G>A rs863223504
NM_000393.5(COL5A2):c.1716+7A>G rs1057520896
NM_000393.5(COL5A2):c.1717-10T>G
NM_000393.5(COL5A2):c.1717-15G>T
NM_000393.5(COL5A2):c.1717-241_1717-240insACTTT rs150346155
NM_000393.5(COL5A2):c.1717-9dup
NM_000393.5(COL5A2):c.1718G>T (p.Gly573Val)
NM_000393.5(COL5A2):c.1728A>C (p.Gly576=)
NM_000393.5(COL5A2):c.1737T>C (p.Gly579=)
NM_000393.5(COL5A2):c.173C>A (p.Pro58His) rs766925699
NM_000393.5(COL5A2):c.1753G>A (p.Gly585Arg) rs1686090076
NM_000393.5(COL5A2):c.1770+12A>T rs915090349
NM_000393.5(COL5A2):c.1770+14A>G
NM_000393.5(COL5A2):c.1770+4A>G
NM_000393.5(COL5A2):c.1770+6T>C rs1686089547
NM_000393.5(COL5A2):c.1770G>A (p.Leu590=)
NM_000393.5(COL5A2):c.1771-7T>A
NM_000393.5(COL5A2):c.1771-7_1771-6insTA rs777484785
NM_000393.5(COL5A2):c.1773T>A (p.Gly591=) rs2105591117
NM_000393.5(COL5A2):c.1775C>G (p.Ala592Gly)
NM_000393.5(COL5A2):c.1775C>T (p.Ala592Val) rs145169816
NM_000393.5(COL5A2):c.1787A>T (p.Asp596Val) rs768939237
NM_000393.5(COL5A2):c.1792C>T (p.Arg598Cys) rs1060501906
NM_000393.5(COL5A2):c.1796C>T (p.Pro599Leu)
NM_000393.5(COL5A2):c.1798_1800dup (p.Gly600_Pro601insGly)
NM_000393.5(COL5A2):c.1799G>T (p.Gly600Val) rs2105590990
NM_000393.5(COL5A2):c.17C>A (p.Ala6Glu)
NM_000393.5(COL5A2):c.1801C>A (p.Pro601Thr)
NM_000393.5(COL5A2):c.1808G>A (p.Gly603Asp)
NM_000393.5(COL5A2):c.1808G>C (p.Gly603Ala) rs1553515338
NM_000393.5(COL5A2):c.1809C>A (p.Gly603=)
NM_000393.5(COL5A2):c.180G>A (p.Gln60=) rs759303686
NM_000393.5(COL5A2):c.1812C>T (p.Ser604=) rs1576502365
NM_000393.5(COL5A2):c.1813A>G (p.Ile605Val) rs2105590952
NM_000393.5(COL5A2):c.1818A>G (p.Gly606=)
NM_000393.5(COL5A2):c.181A>G (p.Ile61Val)
NM_000393.5(COL5A2):c.182TCTGTG[1] (p.Val63_Cys64del) rs1687236750
NM_000393.5(COL5A2):c.1830G>A (p.Gln610=)
NM_000393.5(COL5A2):c.1830G>T (p.Gln610His)
NM_000393.5(COL5A2):c.1831C>G (p.Pro611Ala) rs1438423994
NM_000393.5(COL5A2):c.1832C>T (p.Pro611Leu)
NM_000393.5(COL5A2):c.1833C>G (p.Pro611=)
NM_000393.5(COL5A2):c.1834G>A (p.Gly612Arg)
NM_000393.5(COL5A2):c.1842G>A (p.Met614Ile) rs1559085751
NM_000393.5(COL5A2):c.1853G>A (p.Gly618Asp) rs751229175
NM_000393.5(COL5A2):c.1854C>A (p.Gly618=)
NM_000393.5(COL5A2):c.1865G>A (p.Ser622Asn)
NM_000393.5(COL5A2):c.1868G>A (p.Ser623Asn) rs2105590768
NM_000393.5(COL5A2):c.1869+12G>A
NM_000393.5(COL5A2):c.1869+14A>G
NM_000393.5(COL5A2):c.1869+16A>G
NM_000393.5(COL5A2):c.1869+3G>A
NM_000393.5(COL5A2):c.1898G>A (p.Gly633Glu)
NM_000393.5(COL5A2):c.1900A>C (p.Asn634His)
NM_000393.5(COL5A2):c.1900A>T (p.Asn634Tyr)
NM_000393.5(COL5A2):c.1907G>C (p.Gly636Ala)
NM_000393.5(COL5A2):c.1913C>T (p.Pro638Leu)
NM_000393.5(COL5A2):c.191G>C (p.Cys64Ser)
NM_000393.5(COL5A2):c.1923+3dup rs1553515318
NM_000393.5(COL5A2):c.1923G>T (p.Arg641Ser)
NM_000393.5(COL5A2):c.1924-11T>C
NM_000393.5(COL5A2):c.1924-17T>C
NM_000393.5(COL5A2):c.1924-2_1928del rs786205103
NM_000393.5(COL5A2):c.1924-3T>A rs794727471
NM_000393.5(COL5A2):c.1924-4C>G rs1559085578
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg) rs1559085564
NM_000393.5(COL5A2):c.1945G>A (p.Glu649Lys)
NM_000393.5(COL5A2):c.1954C>A (p.Pro652Thr)
NM_000393.5(COL5A2):c.1955C>T (p.Pro652Leu) rs766743234
NM_000393.5(COL5A2):c.1959T>C (p.Ser653=)
NM_000393.5(COL5A2):c.1971C>T (p.Gly657=) rs1686065633
NM_000393.5(COL5A2):c.1972C>T (p.Pro658Ser) rs1686065578
NM_000393.5(COL5A2):c.1973C>A (p.Pro658Gln) rs746458284
NM_000393.5(COL5A2):c.1974G>A (p.Pro658=)
NM_000393.5(COL5A2):c.1977+10T>C
NM_000393.5(COL5A2):c.1977+12T>C rs202204374
NM_000393.5(COL5A2):c.1977+13dup
NM_000393.5(COL5A2):c.1977+1G>A rs1576502045
NM_000393.5(COL5A2):c.1977+4T>C rs1686064895
NM_000393.5(COL5A2):c.1977+6T>A rs863223486
NM_000393.5(COL5A2):c.1977+8A>G
NM_000393.5(COL5A2):c.1977+9T>C
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.1978-6A>G
NM_000393.5(COL5A2):c.1979G>T (p.Gly660Val)
NM_000393.5(COL5A2):c.1989T>C (p.Gly663=)
NM_000393.5(COL5A2):c.2009C>A (p.Pro670His)
NM_000393.5(COL5A2):c.2013A>G (p.Pro671=) rs2105586702
NM_000393.5(COL5A2):c.2019C>T (p.Pro673=) rs2105586689
NM_000393.5(COL5A2):c.2031+1G>A
NM_000393.5(COL5A2):c.2031+1G>T rs786205104
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.2031+6C>T rs1686033754
NM_000393.5(COL5A2):c.2032-13A>T
NM_000393.5(COL5A2):c.2032-3T>C
NM_000393.5(COL5A2):c.2032-3T>G
NM_000393.5(COL5A2):c.2032-57T>C rs13416565
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=) rs1553515128
NM_000393.5(COL5A2):c.2048C>T (p.Pro683Leu) rs1019506931
NM_000393.5(COL5A2):c.204C>A (p.Ala68=) rs1553519038
NM_000393.5(COL5A2):c.2055_2057delinsAGG (p.Pro686Gly) rs1064795111
NM_000393.5(COL5A2):c.2061A>C (p.Gly687=) rs2105584664
NM_000393.5(COL5A2):c.2062G>A (p.Glu688Lys)
NM_000393.5(COL5A2):c.2066G>C (p.Gly689Ala) rs541711311
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.2085+10T>C
NM_000393.5(COL5A2):c.2085+19A>G rs2105584543
NM_000393.5(COL5A2):c.2086-12del rs5837121
NM_000393.5(COL5A2):c.2086-13_2086-12del rs5837121
NM_000393.5(COL5A2):c.2086-13_2086-12dup
NM_000393.5(COL5A2):c.2086-23dup rs5837121
NM_000393.5(COL5A2):c.208C>T (p.Leu70Phe)
NM_000393.5(COL5A2):c.2092C>A (p.Pro698Thr) rs146005731
NM_000393.5(COL5A2):c.2104G>C (p.Gly702Arg)
NM_000393.5(COL5A2):c.2107G>A (p.Ala703Thr)
NM_000393.5(COL5A2):c.2118G>A (p.Pro706=)
NM_000393.5(COL5A2):c.2129G>C (p.Arg710Thr)
NM_000393.5(COL5A2):c.212G>C (p.Cys71Ser)
NM_000393.5(COL5A2):c.2130+13A>G
NM_000393.5(COL5A2):c.2130+16T>G
NM_000393.5(COL5A2):c.2130+1G>A rs2105579086
NM_000393.5(COL5A2):c.2131-15C>A
NM_000393.5(COL5A2):c.2137C>T (p.Arg713Ter)
NM_000393.5(COL5A2):c.2140G>A (p.Gly714Arg)
NM_000393.5(COL5A2):c.2151G>A (p.Gly717=)
NM_000393.5(COL5A2):c.2168G>A (p.Gly723Glu) rs1553514920
NM_000393.5(COL5A2):c.2169G>A (p.Gly723=) rs1272808206
NM_000393.5(COL5A2):c.2178A>T (p.Gly726=) rs1307423893
NM_000393.5(COL5A2):c.217A>G (p.Lys73Glu)
NM_000393.5(COL5A2):c.2181C>T (p.Leu727=)
NM_000393.5(COL5A2):c.2189A>T (p.Glu730Val)
NM_000393.5(COL5A2):c.2193G>A (p.Lys731=)
NM_000393.5(COL5A2):c.2194G>A (p.Gly732Arg) rs1553514917
NM_000393.5(COL5A2):c.2200G>A (p.Ala734Thr)
NM_000393.5(COL5A2):c.2210delinsGTCC (p.His737delinsArgPro) rs1559083259
NM_000393.5(COL5A2):c.2223C>G (p.Gly741=)
NM_000393.5(COL5A2):c.2229+14T>G
NM_000393.5(COL5A2):c.2229+15G>A
NM_000393.5(COL5A2):c.2229+8T>C
NM_000393.5(COL5A2):c.2232C>A (p.Gly744=)
NM_000393.5(COL5A2):c.2234G>T (p.Ser745Ile) rs2105575470
NM_000393.5(COL5A2):c.2253C>G (p.Thr751=) rs928855762
NM_000393.5(COL5A2):c.2261A>G (p.Asp754Gly)
NM_000393.5(COL5A2):c.2264C>G (p.Thr755Arg) rs2105575372
NM_000393.5(COL5A2):c.227G>A (p.Cys76Tyr)
NM_000393.5(COL5A2):c.2281C>G (p.Gln761Glu)
NM_000393.5(COL5A2):c.2283A>G (p.Gln761=)
NM_000393.5(COL5A2):c.2285G>A (p.Gly762Asp)
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu) rs150260969
NM_000393.5(COL5A2):c.2295A>G (p.Gly765=)
NM_000393.5(COL5A2):c.2297A>G (p.Glu766Gly) rs2105575251
NM_000393.5(COL5A2):c.2298A>G (p.Glu766=) rs369130743
NM_000393.5(COL5A2):c.2310A>G (p.Ala770=)
NM_000393.5(COL5A2):c.2311G>A (p.Gly771Arg) rs1357408674
NM_000393.5(COL5A2):c.2322C>T (p.Gly774=)
NM_000393.5(COL5A2):c.2329G>T (p.Gly777Cys)
NM_000393.5(COL5A2):c.2335A>G (p.Arg779Gly) rs1032000194
NM_000393.5(COL5A2):c.2337+11T>C
NM_000393.5(COL5A2):c.2337+18_2337+29del
NM_000393.5(COL5A2):c.2337+29del rs34715449
NM_000393.5(COL5A2):c.2337+8C>T rs999144463
NM_000393.5(COL5A2):c.2337+8_2337+10del
NM_000393.5(COL5A2):c.2337+8_2337+11del rs2105574989
NM_000393.5(COL5A2):c.2337+9dup rs34715449
NM_000393.5(COL5A2):c.2338-12G>T
NM_000393.5(COL5A2):c.2338-15T>G
NM_000393.5(COL5A2):c.233A>G (p.Asp78Gly)
NM_000393.5(COL5A2):c.2340T>A (p.Gly780=)
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser) rs781215270
NM_000393.5(COL5A2):c.2345T>A (p.Ile782Lys) rs1198104925
NM_000393.5(COL5A2):c.2355A>G (p.Lys785=)
NM_000393.5(COL5A2):c.235G>A (p.Val79Met)
NM_000393.5(COL5A2):c.2381A>T (p.Asp794Val) rs2105574022
NM_000393.5(COL5A2):c.2386G>A (p.Ala796Thr)
NM_000393.5(COL5A2):c.2389A>G (p.Arg797Gly) rs2105573986
NM_000393.5(COL5A2):c.2391+5G>A rs1553514799
NM_000393.5(COL5A2):c.2392-15_2392-14insTGTTG
NM_000393.5(COL5A2):c.2392-228A>C rs114497915
NM_000393.5(COL5A2):c.2393G>T (p.Gly798Val)
NM_000393.5(COL5A2):c.2394T>C (p.Gly798=)
NM_000393.5(COL5A2):c.2404C>A (p.Pro802Thr)
NM_000393.5(COL5A2):c.2412C>T (p.Gly804=)
NM_000393.5(COL5A2):c.241G>A (p.Asp81Asn)
NM_000393.5(COL5A2):c.2429G>T (p.Gly810Val)
NM_000393.5(COL5A2):c.2431C>A (p.Pro811Thr)
NM_000393.5(COL5A2):c.2434A>C (p.Thr812Pro)
NM_000393.5(COL5A2):c.2445+15G>A rs767821578
NM_000393.5(COL5A2):c.2445+19A>C
NM_000393.5(COL5A2):c.2445+8A>G
NM_000393.5(COL5A2):c.2446-11C>T
NM_000393.5(COL5A2):c.2446-13A>G
NM_000393.5(COL5A2):c.2446-35_2446-9del rs2105566377
NM_000393.5(COL5A2):c.2446-5T>C rs1685846142
NM_000393.5(COL5A2):c.2446-7T>C rs1685846268
NM_000393.5(COL5A2):c.2462G>A (p.Arg821Gln)
NM_000393.5(COL5A2):c.2471T>A (p.Val824Asp)
NM_000393.5(COL5A2):c.247G>T (p.Ala83Ser) rs1553519033
NM_000393.5(COL5A2):c.2481T>C (p.Pro827=) rs749675749
NM_000393.5(COL5A2):c.2489G>C (p.Arg830Pro)
NM_000393.5(COL5A2):c.2493C>G (p.Gly831=)
NM_000393.5(COL5A2):c.2494A>C (p.Asn832His) rs1576496167
NM_000393.5(COL5A2):c.2499+10A>G rs886055356
NM_000393.5(COL5A2):c.2499+16_2499+17dup
NM_000393.5(COL5A2):c.2499+19G>C
NM_000393.5(COL5A2):c.2499+6T>G
NM_000393.5(COL5A2):c.2499+8A>G
NM_000393.5(COL5A2):c.2499+9C>G
NM_000393.5(COL5A2):c.2500-14_2500-13del rs2105565157
NM_000393.5(COL5A2):c.2500-16C>G
NM_000393.5(COL5A2):c.2500-17T>C rs530643338
NM_000393.5(COL5A2):c.2500-5C>T rs1306555149
NM_000393.5(COL5A2):c.2506C>G (p.Arg836Gly) rs367718811
NM_000393.5(COL5A2):c.2507G>A (p.Arg836Gln) rs751683516
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.2512G>A (p.Glu838Lys)
NM_000393.5(COL5A2):c.2521C>T (p.Pro841Ser)
NM_000393.5(COL5A2):c.2522C>T (p.Pro841Leu) rs2105565020
NM_000393.5(COL5A2):c.2531C>T (p.Ala844Val)
NM_000393.5(COL5A2):c.2538T>A (p.Gly846=)
NM_000393.5(COL5A2):c.2545G>A (p.Gly849Arg) rs368239207
NM_000393.5(COL5A2):c.2549C>G (p.Pro850Arg)
NM_000393.5(COL5A2):c.2549C>T (p.Pro850Leu) rs863223493
NM_000393.5(COL5A2):c.2553+11C>T
NM_000393.5(COL5A2):c.2553+1G>T
NM_000393.5(COL5A2):c.2553+20C>T
NM_000393.5(COL5A2):c.2553+2del rs1553514506
NM_000393.5(COL5A2):c.2553+5A>T rs371072906
NM_000393.5(COL5A2):c.2554-10T>A
NM_000393.5(COL5A2):c.2557C>A (p.Pro853Thr) rs863223506
NM_000393.5(COL5A2):c.2562C>A (p.Asp854Glu) rs148430780
NM_000393.5(COL5A2):c.256G>A (p.Val86Ile) rs1387694873
NM_000393.5(COL5A2):c.2570C>T (p.Pro857Leu) rs938162476
NM_000393.5(COL5A2):c.2571T>C (p.Pro857=)
NM_000393.5(COL5A2):c.2584G>A (p.Glu862Lys) rs1685823479
NM_000393.5(COL5A2):c.2587C>A (p.Pro863Thr)
NM_000393.5(COL5A2):c.2597C>T (p.Pro866Leu) rs143261719
NM_000393.5(COL5A2):c.2598A>G (p.Pro866=) rs757721541
NM_000393.5(COL5A2):c.259A>C (p.Thr87Pro) rs1687234505
NM_000393.5(COL5A2):c.2602C>A (p.Gln868Lys) rs1553514451
NM_000393.5(COL5A2):c.2614G>A (p.Ala872Thr)
NM_000393.5(COL5A2):c.2614G>T (p.Ala872Ser)
NM_000393.5(COL5A2):c.261G>T (p.Thr87=)
NM_000393.5(COL5A2):c.2627G>A (p.Gly876Glu) rs886039694
NM_000393.5(COL5A2):c.2633A>G (p.Gln878Arg)
NM_000393.5(COL5A2):c.2634A>T (p.Gln878His)
NM_000393.5(COL5A2):c.2641G>T (p.Ala881Ser) rs760858324
NM_000393.5(COL5A2):c.2642C>T (p.Ala881Val) rs1685821871
NM_000393.5(COL5A2):c.2647T>A (p.Ser883Thr)
NM_000393.5(COL5A2):c.2650C>A (p.Pro884Thr)
NM_000393.5(COL5A2):c.2653G>A (p.Gly885Ser)
NM_000393.5(COL5A2):c.2661+10C>A
NM_000393.5(COL5A2):c.2661+10C>T
NM_000393.5(COL5A2):c.2661+11A>G
NM_000393.5(COL5A2):c.2661+16_2661+17insCTTGAGTC
NM_000393.5(COL5A2):c.2661+17_2661+20delinsCTTGAGTCAAGTTAA
NM_000393.5(COL5A2):c.2661+20G>T rs79623676
NM_000393.5(COL5A2):c.2661T>C (p.His887=)
NM_000393.5(COL5A2):c.2662-16G>C
NM_000393.5(COL5A2):c.2662-2A>G
NM_000393.5(COL5A2):c.2662-6A>G
NM_000393.5(COL5A2):c.2668A>G (p.Asn890Asp)
NM_000393.5(COL5A2):c.2680G>C (p.Gly894Arg) rs2105563064
NM_000393.5(COL5A2):c.2703C>A (p.Thr901=)
NM_000393.5(COL5A2):c.2711C>A (p.Pro904Gln)
NM_000393.5(COL5A2):c.2715+14A>G
NM_000393.5(COL5A2):c.2715+15T>C
NM_000393.5(COL5A2):c.2715+4A>G rs1553514423
NM_000393.5(COL5A2):c.2716-20A>G
NM_000393.5(COL5A2):c.271G>C (p.Glu91Gln) rs730880065
NM_000393.5(COL5A2):c.273A>G (p.Glu91=)
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.2769+10C>T rs777299355
NM_000393.5(COL5A2):c.2769+13A>C
NM_000393.5(COL5A2):c.2769+14G>C
NM_000393.5(COL5A2):c.2769+20C>T
NM_000393.5(COL5A2):c.2769+2dup
NM_000393.5(COL5A2):c.2770-14_2770-11del
NM_000393.5(COL5A2):c.2770-14del
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.2770-166_2770-162del rs144410979
NM_000393.5(COL5A2):c.2770-18C>T
NM_000393.5(COL5A2):c.2770-20T>G rs1553514295
NM_000393.5(COL5A2):c.2770-4C>T rs1576494559
NM_000393.5(COL5A2):c.2770-6T>A
NM_000393.5(COL5A2):c.2780G>C (p.Gly927Ala)
NM_000393.5(COL5A2):c.2786C>A (p.Ala929Glu) rs747843876
NM_000393.5(COL5A2):c.2789G>A (p.Gly930Glu)
NM_000393.5(COL5A2):c.2789G>T (p.Gly930Val)
NM_000393.5(COL5A2):c.2793C>T (p.Pro931=)
NM_000393.5(COL5A2):c.2795T>C (p.Leu932Pro) rs730880067
NM_000393.5(COL5A2):c.27A>G (p.Arg9=)
NM_000393.5(COL5A2):c.2806G>A (p.Gly936Arg) rs1471655044
NM_000393.5(COL5A2):c.2812G>A (p.Glu938Lys) rs2105559330
NM_000393.5(COL5A2):c.2816G>A (p.Gly939Glu)
NM_000393.5(COL5A2):c.281C>T (p.Pro94Leu)
NM_000393.5(COL5A2):c.2829T>C (p.Leu943=) rs1576494477
NM_000393.5(COL5A2):c.2830C>T (p.Arg944Cys)
NM_000393.5(COL5A2):c.2831G>C (p.Arg944Pro) rs761988412
NM_000393.5(COL5A2):c.2833G>A (p.Gly945Arg) rs1685785467
NM_000393.5(COL5A2):c.2834G>A (p.Gly945Glu) rs868695034
NM_000393.5(COL5A2):c.2835G>A (p.Gly945=)
NM_000393.5(COL5A2):c.2838C>T (p.Asp946=)
NM_000393.5(COL5A2):c.2839C>G (p.Pro947Ala) rs1027615025
NM_000393.5(COL5A2):c.2849A>G (p.His950Arg) rs761035694
NM_000393.5(COL5A2):c.2851G>A (p.Gly951Arg)
NM_000393.5(COL5A2):c.2854C>A (p.Arg952Ser) rs199530997
NM_000393.5(COL5A2):c.2859G>A (p.Val953=) rs1685784025
NM_000393.5(COL5A2):c.2862A>G (p.Gly954=)
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn) rs754751410
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.2871A>G (p.Gly957=)
NM_000393.5(COL5A2):c.2872C>T (p.Pro958Ser) rs957007431
NM_000393.5(COL5A2):c.2880C>T (p.Gly960=)
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)
NM_000393.5(COL5A2):c.2885C>T (p.Pro962Leu)
NM_000393.5(COL5A2):c.2892C>A (p.Gly964=)
NM_000393.5(COL5A2):c.2892C>T (p.Gly964=) rs2105558761
NM_000393.5(COL5A2):c.289T>A (p.Ser97Thr)
NM_000393.5(COL5A2):c.28C>A (p.Pro10Thr) rs1457897938
NM_000393.5(COL5A2):c.2900A>T (p.Asp967Val)
NM_000393.5(COL5A2):c.2901C>T (p.Asp967=) rs2105558694
NM_000393.5(COL5A2):c.2903A>G (p.Lys968Arg)
NM_000393.5(COL5A2):c.2907G>C (p.Gly969=) rs2105558672
NM_000393.5(COL5A2):c.2908G>A (p.Asp970Asn) rs2105558665
NM_000393.5(COL5A2):c.2919dup (p.Asp974fs) rs1685782021
NM_000393.5(COL5A2):c.291A>G (p.Ser97=)
NM_000393.5(COL5A2):c.2922T>C (p.Asp974=)
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.2931+10G>A
NM_000393.5(COL5A2):c.2931+12G>A
NM_000393.5(COL5A2):c.2931+17C>T
NM_000393.5(COL5A2):c.2931+5G>T
NM_000393.5(COL5A2):c.2932-11C>T rs1158417509
NM_000393.5(COL5A2):c.2932G>C (p.Gly978Arg) rs2153508067
NM_000393.5(COL5A2):c.2941G>A (p.Gly981Ser) rs2153508066
NM_000393.5(COL5A2):c.2945C>A (p.Pro982His)
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg) rs1576493931
NM_000393.5(COL5A2):c.2955A>G (p.Pro985=) rs1685766586
NM_000393.5(COL5A2):c.296C>T (p.Thr99Ile)
NM_000393.5(COL5A2):c.2970G>A (p.Gly990=) rs933589600
NM_000393.5(COL5A2):c.2970G>T (p.Gly990=) rs933589600
NM_000393.5(COL5A2):c.2980A>T (p.Ile994Phe)
NM_000393.5(COL5A2):c.2983G>C (p.Val995Leu)
NM_000393.5(COL5A2):c.2993C>T (p.Pro998Leu) rs863223494
NM_000393.5(COL5A2):c.2997G>C (p.Gly999=)
NM_000393.5(COL5A2):c.3001C>G (p.Arg1001Gly)
NM_000393.5(COL5A2):c.3001C>T (p.Arg1001Cys) rs863223507
NM_000393.5(COL5A2):c.3002G>A (p.Arg1001His)
NM_000393.5(COL5A2):c.3002G>C (p.Arg1001Pro)
NM_000393.5(COL5A2):c.3003T>A (p.Arg1001=)
NM_000393.5(COL5A2):c.3015C>T (p.Gly1005=)
NM_000393.5(COL5A2):c.3035C>A (p.Pro1012Gln)
NM_000393.5(COL5A2):c.3039+13A>G
NM_000393.5(COL5A2):c.3039+15C>A rs114619770
NM_000393.5(COL5A2):c.3039+16G>A
NM_000393.5(COL5A2):c.3039+282_3039+288del rs11277110
NM_000393.5(COL5A2):c.3039+8G>A
NM_000393.5(COL5A2):c.3039G>A (p.Ala1013=) rs751945982
NM_000393.5(COL5A2):c.303A>G (p.Gly101=)
NM_000393.5(COL5A2):c.3040-19A>G
NM_000393.5(COL5A2):c.3040-7A>G rs1236877990
NM_000393.5(COL5A2):c.3041G>T (p.Gly1014Val)
NM_000393.5(COL5A2):c.3044C>A (p.Thr1015Lys)
NM_000393.5(COL5A2):c.3044C>T (p.Thr1015Ile)
NM_000393.5(COL5A2):c.3049G>C (p.Gly1017Arg)
NM_000393.5(COL5A2):c.3056T>C (p.Val1019Ala)
NM_000393.5(COL5A2):c.305G>A (p.Gly102Asp)
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr)
NM_000393.5(COL5A2):c.3064A>C (p.Thr1022Pro)
NM_000393.5(COL5A2):c.3068G>T (p.Gly1023Val) rs1685736900
NM_000393.5(COL5A2):c.306T>C (p.Gly102=)
NM_000393.5(COL5A2):c.3070G>A (p.Ala1024Thr)
NM_000393.5(COL5A2):c.3084A>C (p.Lys1028Asn) rs774936724
NM_000393.5(COL5A2):c.3084A>G (p.Lys1028=) rs774936724
NM_000393.5(COL5A2):c.3093T>C (p.Pro1031=)
NM_000393.5(COL5A2):c.3103G>A (p.Gly1035Arg) rs1685735868
NM_000393.5(COL5A2):c.3108C>A (p.Pro1036=) rs2153507896
NM_000393.5(COL5A2):c.3109C>T (p.Pro1037Ser) rs1576493048
NM_000393.5(COL5A2):c.3114C>T (p.Gly1038=)
NM_000393.5(COL5A2):c.3116C>G (p.Ser1039Cys) rs1367927256
NM_000393.5(COL5A2):c.3122G>A (p.Gly1041Asp)
NM_000393.5(COL5A2):c.3127G>A (p.Val1043Ile) rs1186405696
NM_000393.5(COL5A2):c.3128T>G (p.Val1043Gly) rs2153507890
NM_000393.5(COL5A2):c.3136C>A (p.Pro1046Thr)
NM_000393.5(COL5A2):c.3143C>A (p.Pro1048Gln) rs1685734191
NM_000393.5(COL5A2):c.3147+12A>G
NM_000393.5(COL5A2):c.3147+1G>A rs1685734160
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.3147+5_3147+16del
NM_000393.5(COL5A2):c.3148-2A>G rs1553513971
NM_000393.5(COL5A2):c.3148-6T>G
NM_000393.5(COL5A2):c.3148-9T>A
NM_000393.5(COL5A2):c.3151C>T (p.Pro1051Ser) rs2153507740
NM_000393.5(COL5A2):c.3154G>T (p.Ala1052Ser)
NM_000393.5(COL5A2):c.3159C>A (p.Gly1053=)
NM_000393.5(COL5A2):c.3171C>A (p.Thr1057=)
NM_000393.5(COL5A2):c.3171C>G (p.Thr1057=)
NM_000393.5(COL5A2):c.3178C>A (p.Arg1060=) rs374549843
NM_000393.5(COL5A2):c.3179G>C (p.Arg1060Pro)
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val) rs778501601
NM_000393.5(COL5A2):c.31C>A (p.Leu11Ile) rs1576577162
NM_000393.5(COL5A2):c.3200G>C (p.Arg1067Pro)
NM_000393.5(COL5A2):c.3201+15A>C
NM_000393.5(COL5A2):c.3201+17T>A
NM_000393.5(COL5A2):c.3201+1G>T
NM_000393.5(COL5A2):c.3202-17A>G
NM_000393.5(COL5A2):c.3202G>A (p.Gly1068Ser) rs1332988061
NM_000393.5(COL5A2):c.3207T>C (p.Asp1069=)
NM_000393.5(COL5A2):c.3214G>A (p.Asp1072Asn)
NM_000393.5(COL5A2):c.322+10T>A rs2105711790
NM_000393.5(COL5A2):c.322+7A>G
NM_000393.5(COL5A2):c.3226G>C (p.Ala1076Pro) rs2153507378
NM_000393.5(COL5A2):c.323-9T>A rs1553518634
NM_000393.5(COL5A2):c.3230G>A (p.Gly1077Asp)
NM_000393.5(COL5A2):c.3230del (p.Gly1077fs)
NM_000393.5(COL5A2):c.3232C>G (p.Leu1078Val)
NM_000393.5(COL5A2):c.3248G>A (p.Gly1083Asp) rs1559076883
NM_000393.5(COL5A2):c.3249T>G (p.Gly1083=)
NM_000393.5(COL5A2):c.3260C>G (p.Thr1087Ser)
NM_000393.5(COL5A2):c.3268C>A (p.Pro1090Thr)
NM_000393.5(COL5A2):c.326G>A (p.Arg109Lys)
NM_000393.5(COL5A2):c.3278C>A (p.Ala1093Asp)
NM_000393.5(COL5A2):c.3283G>A (p.Gly1095Arg) rs1576490680
NM_000393.5(COL5A2):c.3295C>G (p.Gln1099Glu)
NM_000393.5(COL5A2):c.3296A>G (p.Gln1099Arg)
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+1G>A rs1553513657
NM_000393.5(COL5A2):c.3309+20C>T rs2153507358
NM_000393.5(COL5A2):c.3309+5G>A rs2153507363
NM_000393.5(COL5A2):c.3309+6G>A rs775681859
NM_000393.5(COL5A2):c.3309+6G>T rs775681859
NM_000393.5(COL5A2):c.3309+7A>G rs1553513652
NM_000393.5(COL5A2):c.3309+9G>A
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.5(COL5A2):c.3310-132CA[11] rs111268949
NM_000393.5(COL5A2):c.3310-132CA[13] rs111268949
NM_000393.5(COL5A2):c.3310-19dup rs767565265
NM_000393.5(COL5A2):c.3310-4T>G rs2153507285
NM_000393.5(COL5A2):c.3311G>T (p.Gly1104Val) rs1167178682
NM_000393.5(COL5A2):c.3322C>A (p.Pro1108Thr)
NM_000393.5(COL5A2):c.3331C>T (p.Pro1111Ser) rs1685640502
NM_000393.5(COL5A2):c.3334C>A (p.Pro1112Thr)
NM_000393.5(COL5A2):c.3334C>T (p.Pro1112Ser)
NM_000393.5(COL5A2):c.3338G>T (p.Gly1113Val) rs981465775
NM_000393.5(COL5A2):c.3341G>T (p.Arg1114Leu)
NM_000393.5(COL5A2):c.3347G>A (p.Gly1116Glu)
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=) rs1553513577
NM_000393.5(COL5A2):c.3351A>G (p.Lys1117=)
NM_000393.5(COL5A2):c.336+181del rs147860045
NM_000393.5(COL5A2):c.336+3A>T rs762140704
NM_000393.5(COL5A2):c.3363+17del
NM_000393.5(COL5A2):c.3363+18_3363+21del
NM_000393.5(COL5A2):c.3364-10C>G
NM_000393.5(COL5A2):c.3364-18C>T
NM_000393.5(COL5A2):c.3364-5T>A
NM_000393.5(COL5A2):c.3364G>A (p.Gly1122Arg)
NM_000393.5(COL5A2):c.337-152C>G rs55905390
NM_000393.5(COL5A2):c.337-15T>C
NM_000393.5(COL5A2):c.337-17T>C
NM_000393.5(COL5A2):c.337-212dup rs143135434
NM_000393.5(COL5A2):c.3373G>C (p.Gly1125Arg)
NM_000393.5(COL5A2):c.3380G>A (p.Arg1127His)
NM_000393.5(COL5A2):c.3382G>T (p.Gly1128Cys)
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.5(COL5A2):c.3394G>A (p.Asp1132Asn)
NM_000393.5(COL5A2):c.3395A>G (p.Asp1132Gly)
NM_000393.5(COL5A2):c.3399T>C (p.His1133=)
NM_000393.5(COL5A2):c.3406C>T (p.Arg1136Ter)
NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln) rs562950263
NM_000393.5(COL5A2):c.3426G>A (p.Lys1142=)
NM_000393.5(COL5A2):c.3428G>A (p.Gly1143Asp) rs1685595072
NM_000393.5(COL5A2):c.3432C>T (p.His1144=) rs1685594948
NM_000393.5(COL5A2):c.3438C>G (p.Gly1146=)
NM_000393.5(COL5A2):c.3443C>T (p.Thr1148Ile) rs762080305
NM_000393.5(COL5A2):c.3444T>G (p.Thr1148=) rs2153507006
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg) rs121912930
NM_000393.5(COL5A2):c.3447T>C (p.Gly1149=) rs1576488965
NM_000393.5(COL5A2):c.345G>C (p.Lys115Asn) rs2105690115
NM_000393.5(COL5A2):c.3465C>A (p.Gly1155=)
NM_000393.5(COL5A2):c.3465C>G (p.Gly1155=)
NM_000393.5(COL5A2):c.3466C>G (p.Pro1156Ala)
NM_000393.5(COL5A2):c.3471+11C>T
NM_000393.5(COL5A2):c.3471+17_3471+20del
NM_000393.5(COL5A2):c.3472-11T>G
NM_000393.5(COL5A2):c.3472-3T>A
NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg) rs1685586746
NM_000393.5(COL5A2):c.3490G>T (p.Gly1164Ter)
NM_000393.5(COL5A2):c.3491G>A (p.Gly1164Glu) rs863223508
NM_000393.5(COL5A2):c.3493A>G (p.Ser1165Gly)
NM_000393.5(COL5A2):c.3497C>G (p.Ala1166Gly)
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.3521C>T (p.Pro1174Leu)
NM_000393.5(COL5A2):c.3524G>A (p.Arg1175Lys)
NM_000393.5(COL5A2):c.3525+15G>A
NM_000393.5(COL5A2):c.3525+15G>T rs2153506949
NM_000393.5(COL5A2):c.3525+207G>A rs10195023
NM_000393.5(COL5A2):c.3525+20A>C
NM_000393.5(COL5A2):c.3526-17G>C
NM_000393.5(COL5A2):c.3526-5T>G
NM_000393.5(COL5A2):c.3533C>A (p.Pro1178Gln) rs1060501905
NM_000393.5(COL5A2):c.3538C>T (p.Pro1180Ser)
NM_000393.5(COL5A2):c.3544G>T (p.Gly1182Cys) rs1057524163
NM_000393.5(COL5A2):c.3570T>C (p.Pro1190=) rs1553513205
NM_000393.5(COL5A2):c.3573G>T (p.Gly1191=) rs2153506821
NM_000393.5(COL5A2):c.3576A>G (p.Pro1192=)
NM_000393.5(COL5A2):c.3589G>A (p.Gly1197Arg)
NM_000393.5(COL5A2):c.3592C>T (p.Pro1198Ser)
NM_000393.5(COL5A2):c.3598G>A (p.Gly1200Ser) rs1057518566
NM_000393.5(COL5A2):c.3599G>T (p.Gly1200Val) rs1685564185
NM_000393.5(COL5A2):c.3601G>A (p.Val1201Ile) rs1685564109
NM_000393.5(COL5A2):c.3605G>A (p.Arg1202Gln)
NM_000393.5(COL5A2):c.3608G>A (p.Gly1203Asp) rs1576488066
NM_000393.5(COL5A2):c.3613G>T (p.Val1205Leu) rs377660244
NM_000393.5(COL5A2):c.3625G>C (p.Gly1209Arg)
NM_000393.5(COL5A2):c.3631G>A (p.Glu1211Lys)
NM_000393.5(COL5A2):c.3633+14G>A
NM_000393.5(COL5A2):c.3633+17T>C
NM_000393.5(COL5A2):c.3633+9A>T
NM_000393.5(COL5A2):c.3634-3T>C
NM_000393.5(COL5A2):c.3634-4T>C
NM_000393.5(COL5A2):c.3634G>C (p.Gly1212Arg)
NM_000393.5(COL5A2):c.3635G>A (p.Gly1212Asp)
NM_000393.5(COL5A2):c.3641C>A (p.Pro1214His)
NM_000393.5(COL5A2):c.3642T>A (p.Pro1214=)
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.3656C>A (p.Pro1219Gln)
NM_000393.5(COL5A2):c.3656C>T (p.Pro1219Leu) rs1685515304
NM_000393.5(COL5A2):c.3662G>A (p.Gly1221Asp) rs1064796676
NM_000393.5(COL5A2):c.3675C>T (p.Pro1225=) rs1576486602
NM_000393.5(COL5A2):c.3688A>G (p.Thr1230Ala)
NM_000393.5(COL5A2):c.3689C>T (p.Thr1230Ile)
NM_000393.5(COL5A2):c.369+1G>T rs1559104199
NM_000393.5(COL5A2):c.369+20T>A rs1057523292
NM_000393.5(COL5A2):c.3690A>T (p.Thr1230=)
NM_000393.5(COL5A2):c.3690_3691delinsCA (p.Ala1231Thr)
NM_000393.5(COL5A2):c.3691G>A (p.Ala1231Thr)
NM_000393.5(COL5A2):c.3694G>C (p.Ala1232Pro) rs1263127952
NM_000393.5(COL5A2):c.370-9A>T rs2105686943
NM_000393.5(COL5A2):c.3705T>C (p.Asp1235=) rs1057524370
NM_000393.5(COL5A2):c.3707T>A (p.Ile1236Asn)
NM_000393.5(COL5A2):c.3709A>G (p.Met1237Val) rs1685513453
NM_000393.5(COL5A2):c.3712G>A (p.Gly1238Arg)
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.3731T>C (p.Met1244Thr) rs145100971
NM_000393.5(COL5A2):c.3732G>A (p.Met1244Ile) rs780628821
NM_000393.5(COL5A2):c.3736G>A (p.Asp1246Asn)
NM_000393.5(COL5A2):c.3737A>G (p.Asp1246Gly)
NM_000393.5(COL5A2):c.3743T>C (p.Leu1248Pro) rs2153506518
NM_000393.5(COL5A2):c.3747T>C (p.Pro1249=)
NM_000393.5(COL5A2):c.3748G>A (p.Glu1250Lys)
NM_000393.5(COL5A2):c.3751T>C (p.Phe1251Leu)
NM_000393.5(COL5A2):c.3755C>T (p.Thr1252Ile)
NM_000393.5(COL5A2):c.3756T>C (p.Thr1252=) rs1576486483
NM_000393.5(COL5A2):c.3766G>A (p.Ala1256Thr)
NM_000393.5(COL5A2):c.3787A>G (p.Lys1263Glu)
NM_000393.5(COL5A2):c.3798A>G (p.Pro1266=)
NM_000393.5(COL5A2):c.379A>C (p.Ile127Leu) rs1064795177
NM_000393.5(COL5A2):c.3800G>T (p.Gly1267Val)
NM_000393.5(COL5A2):c.3802G>T (p.Val1268Phe)
NM_000393.5(COL5A2):c.3823C>G (p.Leu1275Val)
NM_000393.5(COL5A2):c.3829A>G (p.Ser1277Gly)
NM_000393.5(COL5A2):c.3834G>A (p.Gln1278=) rs2153506504
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val) rs772344964
NM_000393.5(COL5A2):c.3847C>T (p.Arg1283Cys)
NM_000393.5(COL5A2):c.3852C>T (p.Ser1284=)
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu) rs867460091
NM_000393.5(COL5A2):c.386del (p.Gly129fs) rs2105686874
NM_000393.5(COL5A2):c.3878C>T (p.Ala1293Val) rs1251846979
NM_000393.5(COL5A2):c.3879C>T (p.Ala1293=) rs1685508284
NM_000393.5(COL5A2):c.387del (p.Arg130fs) rs2105686869
NM_000393.5(COL5A2):c.3890A>T (p.Asp1297Val)
NM_000393.5(COL5A2):c.3891T>C (p.Asp1297=) rs886038290
NM_000393.5(COL5A2):c.3895C>T (p.Leu1299=)
NM_000393.5(COL5A2):c.3903T>C (p.Leu1301=)
NM_000393.5(COL5A2):c.3906C>T (p.Cys1302=) rs532409377
NM_000393.5(COL5A2):c.3912C>T (p.Ser1304=)
NM_000393.5(COL5A2):c.3918G>A (p.Lys1306=)
NM_000393.5(COL5A2):c.3925+17C>G rs1685506449
NM_000393.5(COL5A2):c.3926-14A>G rs1377852358
NM_000393.5(COL5A2):c.3926-3T>C rs1685452266
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp) rs863223497
NM_000393.5(COL5A2):c.3933C>G (p.Tyr1311Ter)
NM_000393.5(COL5A2):c.3944C>T (p.Pro1315Leu)
NM_000393.5(COL5A2):c.3948C>T (p.Asn1316=)
NM_000393.5(COL5A2):c.3949C>A (p.Gln1317Lys) rs2153506166
NM_000393.5(COL5A2):c.3950A>G (p.Gln1317Arg) rs2153506165
NM_000393.5(COL5A2):c.3953G>A (p.Gly1318Glu) rs1685452114
NM_000393.5(COL5A2):c.3967G>A (p.Ala1323Thr)
NM_000393.5(COL5A2):c.3969A>G (p.Ala1323=) rs1131429
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=) rs775697182
NM_000393.5(COL5A2):c.400G>C (p.Ala134Pro)
NM_000393.5(COL5A2):c.402+15C>T
NM_000393.5(COL5A2):c.402+17A>G
NM_000393.5(COL5A2):c.4020C>A (p.Asn1340Lys) rs771310130
NM_000393.5(COL5A2):c.403-143T>C rs72906358
NM_000393.5(COL5A2):c.403-15C>G
NM_000393.5(COL5A2):c.4035A>T (p.Pro1345=) rs2153506152
NM_000393.5(COL5A2):c.4044C>A (p.Thr1348=) rs1430568106
NM_000393.5(COL5A2):c.4057A>G (p.Lys1353Glu) rs1685449943
NM_000393.5(COL5A2):c.4068C>A (p.Asp1356Glu) rs771590535
NM_000393.5(COL5A2):c.4069A>T (p.Asn1357Tyr) rs1157866285
NM_000393.5(COL5A2):c.4076C>A (p.Pro1359His) rs745580343
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu) rs863223502
NM_000393.5(COL5A2):c.4081T>C (p.Trp1361Arg) rs761506002
NM_000393.5(COL5A2):c.4087G>A (p.Gly1363Ser) rs2153506139
NM_000393.5(COL5A2):c.4093G>A (p.Asp1365Asn)
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val) rs372226064
NM_000393.5(COL5A2):c.4105G>C (p.Gly1369Arg) rs767685753
NM_000393.5(COL5A2):c.4106G>A (p.Gly1369Glu) rs759631023
NM_000393.5(COL5A2):c.4107G>A (p.Gly1369=)
NM_000393.5(COL5A2):c.4113+16del rs779762130
NM_000393.5(COL5A2):c.4113+17A>C
NM_000393.5(COL5A2):c.4113+18C>G
NM_000393.5(COL5A2):c.4113+3A>G rs1685448298
NM_000393.5(COL5A2):c.4113+90del rs142224900
NM_000393.5(COL5A2):c.4114-18_4114-17del rs1440458273
NM_000393.5(COL5A2):c.4114-20A>G rs1057523545
NM_000393.5(COL5A2):c.4114-20_4114-19del
NM_000393.5(COL5A2):c.4117G>A (p.Ala1373Thr) rs1685418656
NM_000393.5(COL5A2):c.4122T>C (p.Tyr1374=)
NM_000393.5(COL5A2):c.412G>A (p.Gly138Arg)
NM_000393.5(COL5A2):c.4133A>G (p.Gln1378Arg) rs863223498
NM_000393.5(COL5A2):c.4137A>G (p.Ser1379=) rs2153505989
NM_000393.5(COL5A2):c.4140T>A (p.Pro1380=)
NM_000393.5(COL5A2):c.414A>T (p.Gly138=)
NM_000393.5(COL5A2):c.4152T>C (p.Ile1384=) rs1685417610
NM_000393.5(COL5A2):c.4154C>T (p.Thr1385Ile)
NM_000393.5(COL5A2):c.4161G>A (p.Met1387Ile) rs1424971937
NM_000393.5(COL5A2):c.4163C>A (p.Thr1388Asn) rs771415085
NM_000393.5(COL5A2):c.4163C>T (p.Thr1388Ile) rs771415085
NM_000393.5(COL5A2):c.4164T>A (p.Thr1388=)
NM_000393.5(COL5A2):c.4172G>T (p.Arg1391Leu)
NM_000393.5(COL5A2):c.4174C>A (p.Leu1392Ile) rs748999143
NM_000393.5(COL5A2):c.4176T>A (p.Leu1392=)
NM_000393.5(COL5A2):c.4179A>C (p.Leu1393Phe)
NM_000393.5(COL5A2):c.4179A>G (p.Leu1393=) rs200888890
NM_000393.5(COL5A2):c.4183A>G (p.Lys1395Glu)
NM_000393.5(COL5A2):c.4185A>G (p.Lys1395=)
NM_000393.5(COL5A2):c.4187A>G (p.Glu1396Gly)
NM_000393.5(COL5A2):c.4189G>A (p.Ala1397Thr)
NM_000393.5(COL5A2):c.4194C>G (p.Ser1398=)
NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=) rs979486002
NM_000393.5(COL5A2):c.4207T>A (p.Tyr1403Asn)
NM_000393.5(COL5A2):c.4213T>G (p.Cys1405Gly) rs1685415940
NM_000393.5(COL5A2):c.4223G>T (p.Ser1408Ile)
NM_000393.5(COL5A2):c.4235T>C (p.Met1412Thr) rs1037904709
NM_000393.5(COL5A2):c.4241A>G (p.Asp1414Gly)
NM_000393.5(COL5A2):c.4257C>G (p.Leu1419=)
NM_000393.5(COL5A2):c.426A>G (p.Pro142=)
NM_000393.5(COL5A2):c.4283C>T (p.Ala1428Val)
NM_000393.5(COL5A2):c.4284A>C (p.Ala1428=)
NM_000393.5(COL5A2):c.4295A>G (p.Asp1432Gly) rs141777954
NM_000393.5(COL5A2):c.4298del (p.Ile1433fs) rs1553512393
NM_000393.5(COL5A2):c.4299C>A (p.Ile1433=)
NM_000393.5(COL5A2):c.429A>G (p.Arg143=) rs1488001302
NM_000393.5(COL5A2):c.4303G>A (p.Ala1435Thr) rs2153505971
NM_000393.5(COL5A2):c.4308G>A (p.Glu1436=)
NM_000393.5(COL5A2):c.430G>A (p.Gly144Arg) rs869025375
NM_000393.5(COL5A2):c.4314T>C (p.Asn1438=)
NM_000393.5(COL5A2):c.4326G>A (p.Arg1442=)
NM_000393.5(COL5A2):c.4326G>T (p.Arg1442=) rs1685413573
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.4349G>T (p.Cys1450Phe)
NM_000393.5(COL5A2):c.4350C>T (p.Cys1450=)
NM_000393.5(COL5A2):c.4353+13T>A
NM_000393.5(COL5A2):c.4353+14G>C
NM_000393.5(COL5A2):c.4353+15A>T rs375110145
NM_000393.5(COL5A2):c.4353+16T>C
NM_000393.5(COL5A2):c.4353+20C>T
NM_000393.5(COL5A2):c.4353+8C>G rs1057523735
NM_000393.5(COL5A2):c.4354-6T>A rs1576482939
NM_000393.5(COL5A2):c.4364G>A (p.Gly1455Glu)
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.4379C>T (p.Thr1460Ile)
NM_000393.5(COL5A2):c.437G>C (p.Arg146Pro) rs144430633
NM_000393.5(COL5A2):c.4388A>G (p.Glu1463Gly) rs1685396293
NM_000393.5(COL5A2):c.4395A>G (p.Arg1465=)
NM_000393.5(COL5A2):c.439G>A (p.Gly147Arg)
NM_000393.5(COL5A2):c.4400A>G (p.Gln1467Arg)
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751
NM_000393.5(COL5A2):c.4417C>T (p.Pro1473Ser)
NM_000393.5(COL5A2):c.441G>A (p.Gly147=)
NM_000393.5(COL5A2):c.4422C>G (p.Ile1474Met)
NM_000393.5(COL5A2):c.4423A>G (p.Ile1475Val) rs886039069
NM_000393.5(COL5A2):c.4424T>C (p.Ile1475Thr)
NM_000393.5(COL5A2):c.4427A>G (p.Asp1476Gly) rs2153505892
NM_000393.5(COL5A2):c.4428T>C (p.Asp1476=)
NM_000393.5(COL5A2):c.4437T>C (p.Pro1479=)
NM_000393.5(COL5A2):c.4438G>C (p.Val1480Leu) rs863223499
NM_000393.5(COL5A2):c.4449C>A (p.Gly1483=) rs78905646
NM_000393.5(COL5A2):c.4464A>G (p.Glu1488=)
NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser) rs775322653
NM_000393.5(COL5A2):c.4476A>C (p.Glu1492Asp)
NM_000393.5(COL5A2):c.4478T>C (p.Ile1493Thr)
NM_000393.5(COL5A2):c.4485A>T (p.Pro1495=)
NM_000393.5(COL5A2):c.4491T>C (p.Cys1497=)
NM_000393.5(COL5A2):c.4497G>A (p.Val1499=) rs1249280287
NM_000393.5(COL5A2):c.450A>C (p.Gly150=)
NM_000393.5(COL5A2):c.454C>A (p.Pro152Thr) rs1553518198
NM_000393.5(COL5A2):c.456+10C>T
NM_000393.5(COL5A2):c.456+18C>T rs887004952
NM_000393.5(COL5A2):c.456+3A>C
NM_000393.5(COL5A2):c.457-12C>T rs1387666560
NM_000393.5(COL5A2):c.457-18A>G
NM_000393.5(COL5A2):c.457-6T>A rs756707881
NM_000393.5(COL5A2):c.459C>T (p.Gly153=) rs2105668392
NM_000393.5(COL5A2):c.470C>T (p.Pro157Leu)
NM_000393.5(COL5A2):c.476G>C (p.Gly159Ala) rs1686807213
NM_000393.5(COL5A2):c.479T>C (p.Ile160Thr) rs1177082898
NM_000393.5(COL5A2):c.500C>A (p.Pro167His)
NM_000393.5(COL5A2):c.507A>G (p.Gln169=)
NM_000393.5(COL5A2):c.519A>C (p.Pro173=) rs1553517803
NM_000393.5(COL5A2):c.532C>T (p.His178Tyr) rs886055358
NM_000393.5(COL5A2):c.534T>A (p.His178Gln)
NM_000393.5(COL5A2):c.534T>C (p.His178=)
NM_000393.5(COL5A2):c.537G>C (p.Pro179=)
NM_000393.5(COL5A2):c.537G>T (p.Pro179=)
NM_000393.5(COL5A2):c.539C>A (p.Ser180Tyr)
NM_000393.5(COL5A2):c.54A>C (p.Leu18Phe) rs2105831569
NM_000393.5(COL5A2):c.54A>G (p.Leu18=) rs2105831569
NM_000393.5(COL5A2):c.552C>G (p.Pro184=)
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn) rs775933907
NM_000393.5(COL5A2):c.559T>C (p.Leu187=)
NM_000393.5(COL5A2):c.567+15T>C
NM_000393.5(COL5A2):c.567+16T>G
NM_000393.5(COL5A2):c.567+3G>A
NM_000393.5(COL5A2):c.568-15A>G rs1057522247
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.568-316_3525+41del
NM_000393.5(COL5A2):c.569C>T (p.Pro190Leu) rs774969990
NM_000393.5(COL5A2):c.586G>C (p.Ala196Pro) rs142855115
NM_000393.5(COL5A2):c.609A>G (p.Gly203=)
NM_000393.5(COL5A2):c.615G>C (p.Gly205=) rs757199738
NM_000393.5(COL5A2):c.622G>A (p.Val208Ile) rs2105658300
NM_000393.5(COL5A2):c.624_644del (p.Leu210_Gly216del)
NM_000393.5(COL5A2):c.635C>T (p.Pro212Leu) rs1686718032
NM_000393.5(COL5A2):c.638G>C (p.Gly213Ala) rs753789459
NM_000393.5(COL5A2):c.645+116CATT[6] rs5837124
NM_000393.5(COL5A2):c.645+12T>G rs2105658220
NM_000393.5(COL5A2):c.645+5G>A
NM_000393.5(COL5A2):c.659C>G (p.Pro220Arg)
NM_000393.5(COL5A2):c.668C>A (p.Pro223Gln)
NM_000393.5(COL5A2):c.668C>T (p.Pro223Leu) rs201941612
NM_000393.5(COL5A2):c.680A>G (p.Gln227Arg) rs1553517410
NM_000393.5(COL5A2):c.682G>A (p.Gly228Arg) rs2105652981
NM_000393.5(COL5A2):c.686A>G (p.Gln229Arg) rs1686671999
NM_000393.5(COL5A2):c.690+12T>G
NM_000393.5(COL5A2):c.690+13A>G
NM_000393.5(COL5A2):c.690+14T>C
NM_000393.5(COL5A2):c.690+5G>T rs1576517517
NM_000393.5(COL5A2):c.690A>G (p.Gln230=)
NM_000393.5(COL5A2):c.691-18C>A rs1440268271
NM_000393.5(COL5A2):c.691-20T>C
NM_000393.5(COL5A2):c.691G>A (p.Gly231Ser) rs1396123186
NM_000393.5(COL5A2):c.693T>A (p.Gly231=)
NM_000393.5(COL5A2):c.698C>T (p.Ala233Val) rs863223487
NM_000393.5(COL5A2):c.724C>T (p.Pro242Ser) rs2105650411
NM_000393.5(COL5A2):c.727G>C (p.Gly243Arg)
NM_000393.5(COL5A2):c.731A>C (p.Asp244Ala)
NM_000393.5(COL5A2):c.73A>C (p.Lys25Gln) rs1688743702
NM_000393.5(COL5A2):c.743T>C (p.Met248Thr) rs1686643340
NM_000393.5(COL5A2):c.744+13_744+16del
NM_000393.5(COL5A2):c.744+17C>G
NM_000393.5(COL5A2):c.744+19T>C
NM_000393.5(COL5A2):c.744+7G>A rs774993105
NM_000393.5(COL5A2):c.744+8T>A rs2105650306
NM_000393.5(COL5A2):c.744+9C>T rs1576516888
NM_000393.5(COL5A2):c.745-19T>C
NM_000393.5(COL5A2):c.745-4T>C rs781426004
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu) rs556805686
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323
NM_000393.5(COL5A2):c.761G>A (p.Arg254His)
NM_000393.5(COL5A2):c.785A>C (p.Lys262Thr) rs1064795517
NM_000393.5(COL5A2):c.797A>T (p.Asp266Val)
NM_000393.5(COL5A2):c.798+10C>A
NM_000393.5(COL5A2):c.798+10del
NM_000393.5(COL5A2):c.798+6C>T
NM_000393.5(COL5A2):c.799-13T>A rs2105645853
NM_000393.5(COL5A2):c.799-15dup rs1169314276
NM_000393.5(COL5A2):c.799-18A>G
NM_000393.5(COL5A2):c.799-7C>T rs879227018
NM_000393.5(COL5A2):c.799-8C>T
NM_000393.5(COL5A2):c.806C>G (p.Pro269Arg)
NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser) rs1553517181
NM_000393.5(COL5A2):c.834G>A (p.Val278=)
NM_000393.5(COL5A2):c.852+13T>G rs2105645578
NM_000393.5(COL5A2):c.852+250G>A rs10166867
NM_000393.5(COL5A2):c.852+309del rs376308674
NM_000393.5(COL5A2):c.852+8T>C rs2105645627
NM_000393.5(COL5A2):c.853-13G>A rs1553516867
NM_000393.5(COL5A2):c.853-17_853-14del
NM_000393.5(COL5A2):c.853-3C>G
NM_000393.5(COL5A2):c.853-8C>T
NM_000393.5(COL5A2):c.860G>A (p.Arg287His)
NM_000393.5(COL5A2):c.861T>G (p.Arg287=) rs1559094497
NM_000393.5(COL5A2):c.868C>T (p.Pro290Ser)
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val) rs1211991688
NM_000393.5(COL5A2):c.889G>A (p.Gly297Ser) rs1686522348
NM_000393.5(COL5A2):c.894G>C (p.Leu298=) rs186775192
NM_000393.5(COL5A2):c.897G>A (p.Lys299=)
NM_000393.5(COL5A2):c.897G>C (p.Lys299Asn)
NM_000393.5(COL5A2):c.902A>G (p.His301Arg)
NM_000393.5(COL5A2):c.905G>A (p.Arg302Gln) rs545574407
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro) rs545574407
NM_000393.5(COL5A2):c.905G>T (p.Arg302Leu) rs545574407
NM_000393.5(COL5A2):c.906+12C>G rs1057521955
NM_000393.5(COL5A2):c.906+20A>G
NM_000393.5(COL5A2):c.907-12T>G
NM_000393.5(COL5A2):c.907-18T>C
NM_000393.5(COL5A2):c.907-19T>C
NM_000393.5(COL5A2):c.90C>T (p.Asp30=)
NM_000393.5(COL5A2):c.917G>C (p.Gly306Ala)
NM_000393.5(COL5A2):c.918T>A (p.Gly306=)
NM_000393.5(COL5A2):c.926G>A (p.Gly309Asp)
NM_000393.5(COL5A2):c.928C>A (p.Pro310Thr)
NM_000393.5(COL5A2):c.929C>T (p.Pro310Leu)
NM_000393.5(COL5A2):c.939A>G (p.Glu313=)
NM_000393.5(COL5A2):c.93G>A (p.Glu31=)
NM_000393.5(COL5A2):c.946G>A (p.Ala316Thr)
NM_000393.5(COL5A2):c.948A>C (p.Ala316=)
NM_000393.5(COL5A2):c.955T>C (p.Ser319Pro) rs1060501908
NM_000393.5(COL5A2):c.960+11A>G
NM_000393.5(COL5A2):c.961-11dup rs542134887
NM_000393.5(COL5A2):c.961-15C>T
NM_000393.5(COL5A2):c.961-18A>G
NM_000393.5(COL5A2):c.961-3del rs542134887
NM_000393.5(COL5A2):c.964G>A (p.Glu322Lys)
NM_000393.5(COL5A2):c.967G>C (p.Ala323Pro) rs2105632778
NM_000393.5(COL5A2):c.97+10C>T
NM_000393.5(COL5A2):c.97+15T>C
NM_000393.5(COL5A2):c.971G>A (p.Gly324Asp) rs2105632746
NM_000393.5(COL5A2):c.978T>C (p.Thr326=) rs1053327487
NM_000393.5(COL5A2):c.98-10C>T rs2105712624
NM_000393.5(COL5A2):c.98-1G>T rs2105712615
NM_000393.5(COL5A2):c.98-22_98-18del
NM_000393.5(COL5A2):c.982C>T (p.Pro328Ser)
NM_000393.5(COL5A2):c.983C>T (p.Pro328Leu)
NM_000393.5(COL5A2):c.986T>C (p.Met329Thr)
NM_000393.5(COL5A2):c.989G>A (p.Gly330Asp) rs753514566
NM_000393.5(COL5A2):c.994A>T (p.Met332Leu)
Single allele

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