ClinVar Miner

List of variants in gene COL5A2

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 644
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HGVS dbSNP
GRCh37/hg19 2q32.2(chr2:190032724-190040435)x1
NC_000002.11:g.(?_189964813)_(189964885_?)del
NC_000002.12:g.189036526del
NC_000002.12:g.189036569G>A
NC_000002.12:g.189049047dup
NC_000002.12:g.189050281_189050287del
NC_000002.12:g.189060822T>A
NC_000002.12:g.189078577C>T
NC_000002.12:g.189079053G>A
NC_000002.12:g.189088935_189088938del
NC_000002.12:g.189089044_189089048dup
NC_000002.12:g.189097333A>G
NM_000393.4(COL5A2):c.-176T>A rs570350400
NM_000393.4(COL5A2):c.1455+6delG rs763475800
NM_000393.4(COL5A2):c.1923+5dupA rs1553515318
NM_000393.4(COL5A2):c.2086-13_2086-12delAA rs5837121
NM_000393.4(COL5A2):c.2086-13dupA rs5837121
NM_000393.4(COL5A2):c.2770-15delT rs577038385
NM_000393.4(COL5A2):c.4113+16delT rs779762130
NM_000393.4(COL5A2):c.4114-19_4114-18delAG rs1440458273
NM_000393.4(COL5A2):c.799-9dup rs1169314276
NM_000393.4(COL5A2):c.961-3delT rs542134887
NM_000393.5(COL5A2):c.*1076G>A rs114123906
NM_000393.5(COL5A2):c.*1165G>A rs13914
NM_000393.5(COL5A2):c.*126A>G rs755412373
NM_000393.5(COL5A2):c.*1379A>G rs114330868
NM_000393.5(COL5A2):c.*1400A>G rs12886
NM_000393.5(COL5A2):c.*1402T>G rs11186
NM_000393.5(COL5A2):c.*1460A>T rs886055349
NM_000393.5(COL5A2):c.*1465G>T rs886055348
NM_000393.5(COL5A2):c.*1668C>G rs772852972
NM_000393.5(COL5A2):c.*1669G>A rs76151083
NM_000393.5(COL5A2):c.*1764G>T rs554165132
NM_000393.5(COL5A2):c.*1852T>C rs116255986
NM_000393.5(COL5A2):c.*1894C>A rs886055347
NM_000393.5(COL5A2):c.*1904C>T rs75096234
NM_000393.5(COL5A2):c.*1960A>G rs76482660
NM_000393.5(COL5A2):c.*1961T>C rs886055346
NM_000393.5(COL5A2):c.*1970T>G rs548360577
NM_000393.5(COL5A2):c.*19G>A rs199758990
NM_000393.5(COL5A2):c.*2062G>A rs77821675
NM_000393.5(COL5A2):c.*211T>A rs776264833
NM_000393.5(COL5A2):c.*2131T>A rs113513554
NM_000393.5(COL5A2):c.*298G>A rs7586
NM_000393.5(COL5A2):c.*391A>G rs143552248
NM_000393.5(COL5A2):c.*392T>C rs1131518
NM_000393.5(COL5A2):c.*401A>C rs886055352
NM_000393.5(COL5A2):c.*423C>T rs77413180
NM_000393.5(COL5A2):c.*446G>A rs570467727
NM_000393.5(COL5A2):c.*46C>A rs112739705
NM_000393.5(COL5A2):c.*515C>T rs113311693
NM_000393.5(COL5A2):c.*561T>C rs564981830
NM_000393.5(COL5A2):c.*589_*590del rs200554257
NM_000393.5(COL5A2):c.*590dup rs200554257
NM_000393.5(COL5A2):c.*639G>A rs73981487
NM_000393.5(COL5A2):c.*694_*695TA[1] rs886055351
NM_000393.5(COL5A2):c.*716A>G rs886055350
NM_000393.5(COL5A2):c.*798A>G rs116775405
NM_000393.5(COL5A2):c.*848T>C rs72902303
NM_000393.5(COL5A2):c.*904A>C rs778818824
NM_000393.5(COL5A2):c.-16_-15insCTAACCCACATCAT rs765138557
NM_000393.5(COL5A2):c.-34C>T rs114102476
NM_000393.5(COL5A2):c.-37T>G rs780293852
NM_000393.5(COL5A2):c.-50C>T rs183260194
NM_000393.5(COL5A2):c.1005+10C>T rs767297800
NM_000393.5(COL5A2):c.1006-8G>A rs200405052
NM_000393.5(COL5A2):c.1006-9C>T rs73978832
NM_000393.5(COL5A2):c.1010C>T (p.Pro337Leu) rs766349082
NM_000393.5(COL5A2):c.1011G>A (p.Pro337=) rs762983955
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser) rs538602187
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600
NM_000393.5(COL5A2):c.1056T>G (p.Ala352=) rs863223488
NM_000393.5(COL5A2):c.1059+9A>G rs776100559
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln) rs761072017
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val) rs886039197
NM_000393.5(COL5A2):c.1076A>G (p.His359Arg)
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1104+115T>C
NM_000393.5(COL5A2):c.1104+116T>C
NM_000393.5(COL5A2):c.1104+15T>C rs75486409
NM_000393.5(COL5A2):c.1105-11T>G rs1057523251
NM_000393.5(COL5A2):c.1105-3T>C rs886038289
NM_000393.5(COL5A2):c.1124G>A (p.Gly375Asp) rs886042913
NM_000393.5(COL5A2):c.1139C>T (p.Pro380Leu)
NM_000393.5(COL5A2):c.1158+14G>A rs1057523022
NM_000393.5(COL5A2):c.1158+79A>C
NM_000393.5(COL5A2):c.1159-13T>C rs756321922
NM_000393.5(COL5A2):c.1159-227A>C
NM_000393.5(COL5A2):c.1159-246T>C
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.1181C>T (p.Ala394Val) rs370121305
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627
NM_000393.5(COL5A2):c.1184G>A (p.Arg395Gln) rs766119748
NM_000393.5(COL5A2):c.1188C>T (p.Gly396=) rs863223485
NM_000393.5(COL5A2):c.118G>A (p.Ala40Thr) rs1559108874
NM_000393.5(COL5A2):c.119C>T (p.Ala40Val) rs758092388
NM_000393.5(COL5A2):c.1228C>T (p.Pro410Ser) rs1042644306
NM_000393.5(COL5A2):c.1257+12G>A rs759316090
NM_000393.5(COL5A2):c.1257+5G>C rs1553515867
NM_000393.5(COL5A2):c.1258-91T>G
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr) rs200839338
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val) rs1391129049
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.5(COL5A2):c.1302+9T>C rs1199559237
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=)
NM_000393.5(COL5A2):c.1303-16T>A rs1057524650
NM_000393.5(COL5A2):c.1311= (p.Pro437=) rs2229495
NM_000393.5(COL5A2):c.1324C>T (p.Pro442Ser) rs1008978987
NM_000393.5(COL5A2):c.1350A>G (p.Gly450=) rs886055357
NM_000393.5(COL5A2):c.1351T>C (p.Ser451Pro) rs548441536
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867
NM_000393.5(COL5A2):c.1373C>G (p.Thr458Ser) rs863223489
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.5(COL5A2):c.1391G>A (p.Arg464Gln) rs1553515798
NM_000393.5(COL5A2):c.1394G>T (p.Gly465Val) rs886039081
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=) rs1553515794
NM_000393.5(COL5A2):c.1406A>G (p.Asp469Gly) rs1553515681
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala) rs779614415
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.1454C>A (p.Pro485Gln) rs145281966
NM_000393.5(COL5A2):c.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000393.5(COL5A2):c.1456-20T>C rs150724439
NM_000393.5(COL5A2):c.1458G>A (p.Gly486=)
NM_000393.5(COL5A2):c.1463A>G (p.His488Arg)
NM_000393.5(COL5A2):c.1491C>T (p.Pro497=)
NM_000393.5(COL5A2):c.1492G>A (p.Gly498Ser) rs780495441
NM_000393.5(COL5A2):c.150C>T (p.Asn50=) rs1559108847
NM_000393.5(COL5A2):c.1518A>T (p.Arg506Ser) rs1553515645
NM_000393.5(COL5A2):c.1534G>A (p.Val512Ile) rs1022068246
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.5(COL5A2):c.153G>A (p.Arg51=) rs1057523986
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=) rs770622592
NM_000393.5(COL5A2):c.1563+217C>G
NM_000393.5(COL5A2):c.1563+262C>T
NM_000393.5(COL5A2):c.1563+5A>G rs777118100
NM_000393.5(COL5A2):c.1570C>T (p.Pro524Ser)
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser) rs1553515522
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490
NM_000393.5(COL5A2):c.1588C>G (p.Pro530Ala) rs772872008
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn)
NM_000393.5(COL5A2):c.1613C>G (p.Pro538Arg)
NM_000393.5(COL5A2):c.1617+4A>G rs1553515517
NM_000393.5(COL5A2):c.1617+9G>T rs186490845
NM_000393.5(COL5A2):c.1618-17G>A rs1272843185
NM_000393.5(COL5A2):c.1618-19C>G rs189970491
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357
NM_000393.5(COL5A2):c.162G>T (p.Trp54Cys) rs863223500
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293
NM_000393.5(COL5A2):c.1636G>A (p.Gly546Ser)
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.1681G>A (p.Gly561Arg) rs1184276149
NM_000393.5(COL5A2):c.1685G>A (p.Arg562His) rs1199481029
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.5(COL5A2):c.1697C>T (p.Pro566Leu) rs1051400743
NM_000393.5(COL5A2):c.1699G>A (p.Gly567Arg) rs863223503
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser) rs372910621
NM_000393.5(COL5A2):c.1714C>T (p.Arg572Trp) rs768322852
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln)
NM_000393.5(COL5A2):c.1716+12G>A rs745767713
NM_000393.5(COL5A2):c.1716+13C>G rs779517028
NM_000393.5(COL5A2):c.1716+5G>A rs863223504
NM_000393.5(COL5A2):c.1716+7A>G rs1057520896
NM_000393.5(COL5A2):c.1716+9A>G rs201934598
NM_000393.5(COL5A2):c.1717-241_1717-240insACTTT
NM_000393.5(COL5A2):c.1717-3C>T rs760304144
NM_000393.5(COL5A2):c.1717-76del
NM_000393.5(COL5A2):c.1717-86A>G
NM_000393.5(COL5A2):c.1738G>A (p.Val580Ile) rs771004951
NM_000393.5(COL5A2):c.173C>A (p.Pro58His) rs766925699
NM_000393.5(COL5A2):c.1766C>T (p.Pro589Leu) rs863223505
NM_000393.5(COL5A2):c.1770+287G>A
NM_000393.5(COL5A2):c.1776G>A (p.Ala592=) rs773332771
NM_000393.5(COL5A2):c.1792C>T (p.Arg598Cys) rs1060501906
NM_000393.5(COL5A2):c.1793G>A (p.Arg598His) rs529317104
NM_000393.5(COL5A2):c.1808G>C (p.Gly603Ala) rs1553515338
NM_000393.5(COL5A2):c.1814T>C (p.Ile605Thr) rs746339285
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=) rs765364009
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.186T>C (p.Cys62=) rs142832916
NM_000393.5(COL5A2):c.1923+11A>G
NM_000393.5(COL5A2):c.1923+8T>C rs191193125
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.1928C>T (p.Ala643Val) rs767643591
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg) rs1559085564
NM_000393.5(COL5A2):c.1973C>T (p.Pro658Leu) rs746458284
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.5(COL5A2):c.1977+12T>C rs202204374
NM_000393.5(COL5A2):c.1977+12T>G rs202204374
NM_000393.5(COL5A2):c.1977+1G>A
NM_000393.5(COL5A2):c.1977+61G>A
NM_000393.5(COL5A2):c.1977+6T>A rs863223486
NM_000393.5(COL5A2):c.1977+85G>C
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.1A>G (p.Met1Val) rs563606558
NM_000393.5(COL5A2):c.2002C>A (p.Gln668Lys) rs144652675
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr) rs904166744
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_000393.5(COL5A2):c.2031+1G>T rs786205104
NM_000393.5(COL5A2):c.2031+279A>G
NM_000393.5(COL5A2):c.2032-39A>T rs6414122
NM_000393.5(COL5A2):c.2032-7G>A rs141571092
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=) rs1553515128
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.2072A>C (p.Lys691Thr) rs142224646
NM_000393.5(COL5A2):c.2075C>G (p.Pro692Arg) rs863223492
NM_000393.5(COL5A2):c.2085+143C>G
NM_000393.5(COL5A2):c.2086-12del rs5837121
NM_000393.5(COL5A2):c.2092C>A (p.Pro698Thr)
NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr) rs765785677
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg) rs772811492
NM_000393.5(COL5A2):c.2111T>C (p.Val704Ala) rs542643688
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu) rs146175905
NM_000393.5(COL5A2):c.2130+141T>G
NM_000393.5(COL5A2):c.2130A>G (p.Arg710=)
NM_000393.5(COL5A2):c.2131-148A>G
NM_000393.5(COL5A2):c.2156G>A (p.Arg719Lys) rs760537680
NM_000393.5(COL5A2):c.2168G>A (p.Gly723Glu) rs1553514920
NM_000393.5(COL5A2):c.2194G>A (p.Gly732Arg) rs1553514917
NM_000393.5(COL5A2):c.2210delinsGTCC (p.His737delinsArgPro) rs1559083259
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr) rs372812220
NM_000393.5(COL5A2):c.2229+51T>C
NM_000393.5(COL5A2):c.2229+59G>A
NM_000393.5(COL5A2):c.2230-16T>A rs375334470
NM_000393.5(COL5A2):c.2230-197G>A
NM_000393.5(COL5A2):c.2230-255T>C
NM_000393.5(COL5A2):c.2230-54A>G
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097
NM_000393.5(COL5A2):c.228C>T (p.Cys76=) rs564136480
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu)
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=) rs763068575
NM_000393.5(COL5A2):c.2308G>T (p.Ala770Ser) rs1244308550
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=) rs138457003
NM_000393.5(COL5A2):c.2337+143A>G
NM_000393.5(COL5A2):c.2337+8C>T rs999144463
NM_000393.5(COL5A2):c.2338-24A>G
NM_000393.5(COL5A2):c.2338-6T>C rs375291199
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser) rs781215270
NM_000393.5(COL5A2):c.2344A>G (p.Ile782Val) rs1270917752
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val) rs746454126
NM_000393.5(COL5A2):c.2391+5G>A rs1553514799
NM_000393.5(COL5A2):c.2392-18T>C rs746722538
NM_000393.5(COL5A2):c.2392-41C>T
NM_000393.5(COL5A2):c.2392-4A>G rs758314268
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=) rs200019093
NM_000393.5(COL5A2):c.2445+98G>A
NM_000393.5(COL5A2):c.2446-84A>G
NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser) rs372904150
NM_000393.5(COL5A2):c.247G>T (p.Ala83Ser) rs1553519033
NM_000393.5(COL5A2):c.2488C>T (p.Arg830Trp) rs778544623
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030
NM_000393.5(COL5A2):c.2494A>C (p.Asn832His)
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.5(COL5A2):c.2499+10A>G rs886055356
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534
NM_000393.5(COL5A2):c.2500-134A>G
NM_000393.5(COL5A2):c.2500-17T>C rs530643338
NM_000393.5(COL5A2):c.2506C>G (p.Arg836Gly) rs367718811
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn) rs745528957
NM_000393.5(COL5A2):c.250G>C (p.Asp84His) rs745528957
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253
NM_000393.5(COL5A2):c.2549C>T (p.Pro850Leu) rs863223493
NM_000393.5(COL5A2):c.2553+2del rs1553514506
NM_000393.5(COL5A2):c.2553+52A>G
NM_000393.5(COL5A2):c.2554-14A>G rs142429770
NM_000393.5(COL5A2):c.2554-5T>C rs373495598
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.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg) rs1064795616
NM_000393.5(COL5A2):c.2597C>T (p.Pro866Leu)
NM_000393.5(COL5A2):c.2602C>A (p.Gln868Lys) rs1553514451
NM_000393.5(COL5A2):c.260C>T (p.Thr87Met)
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.5(COL5A2):c.2627G>A (p.Gly876Glu) rs886039694
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855
NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr)
NM_000393.5(COL5A2):c.2641G>T (p.Ala881Ser) rs760858324
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722
NM_000393.5(COL5A2):c.2661+13G>T rs534626192
NM_000393.5(COL5A2):c.2661+20G>A rs79623676
NM_000393.5(COL5A2):c.270G>A (p.Gly90=) rs756103588
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=) rs372869641
NM_000393.5(COL5A2):c.2715+11T>C rs371363636
NM_000393.5(COL5A2):c.2715+16G>A rs774654781
NM_000393.5(COL5A2):c.2715+213T>C
NM_000393.5(COL5A2):c.2715+236A>T
NM_000393.5(COL5A2):c.2715+237A>T
NM_000393.5(COL5A2):c.2715+238A>T
NM_000393.5(COL5A2):c.2715+42C>A
NM_000393.5(COL5A2):c.2715+4A>G rs1553514423
NM_000393.5(COL5A2):c.2716-4C>T rs111644889
NM_000393.5(COL5A2):c.271G>C (p.Glu91Gln) rs730880065
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
NM_000393.5(COL5A2):c.2769+10C>T rs777299355
NM_000393.5(COL5A2):c.2769+19A>T rs111609220
NM_000393.5(COL5A2):c.2770-190G>A
NM_000393.5(COL5A2):c.2770-20T>G rs1553514295
NM_000393.5(COL5A2):c.2770-306A>G
NM_000393.5(COL5A2):c.2770-34G>T
NM_000393.5(COL5A2):c.2770-5A>G rs370313198
NM_000393.5(COL5A2):c.2770-6T>C rs770409954
NM_000393.5(COL5A2):c.2782C>T (p.Pro928Ser)
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.5(COL5A2):c.2795T>C (p.Leu932Pro) rs730880067
NM_000393.5(COL5A2):c.2831G>C (p.Arg944Pro) rs761988412
NM_000393.5(COL5A2):c.2834G>A (p.Gly945Glu) rs868695034
NM_000393.5(COL5A2):c.2839C>A (p.Pro947Thr) rs1027615025
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu) rs1200990468
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=) rs372780282
NM_000393.5(COL5A2):c.2846C>G (p.Ser949Cys) rs201961021
NM_000393.5(COL5A2):c.2849A>G (p.His950Arg) rs761035694
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp) rs759604513
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543
NM_000393.5(COL5A2):c.2854C>A (p.Arg952Ser) rs199530997
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys) rs199530997
NM_000393.5(COL5A2):c.2855G>A (p.Arg952His) rs139264859
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn) rs754751410
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.2872C>T (p.Pro958Ser)
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser)
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151
NM_000393.5(COL5A2):c.2884C>A (p.Pro962Thr) rs754018138
NM_000393.5(COL5A2):c.288T>C (p.Cys96=) rs577308799
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=) rs760946138
NM_000393.5(COL5A2):c.2929C>T (p.Pro977Ser)
NM_000393.5(COL5A2):c.2931+11C>T rs184002749
NM_000393.5(COL5A2):c.2932-162G>A
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg)
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=) rs1060504380
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg) rs1040238147
NM_000393.5(COL5A2):c.2970G>A (p.Gly990=)
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600
NM_000393.5(COL5A2):c.2981T>C (p.Ile994Thr)
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226
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.3017T>A (p.Met1006Lys) rs930378570
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=) rs143318792
NM_000393.5(COL5A2):c.3022G>A (p.Gly1008Ser) rs909634945
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538
NM_000393.5(COL5A2):c.3039+15C>A rs114619770
NM_000393.5(COL5A2):c.3039+15C>T rs114619770
NM_000393.5(COL5A2):c.3039+7A>G rs369227715
NM_000393.5(COL5A2):c.3039G>A (p.Ala1013=) rs751945982
NM_000393.5(COL5A2):c.3040-165G>A
NM_000393.5(COL5A2):c.3040-190G>A
NM_000393.5(COL5A2):c.3040-40A>G
NM_000393.5(COL5A2):c.3040-8T>C rs886055355
NM_000393.5(COL5A2):c.3071C>T (p.Ala1024Val) rs763462242
NM_000393.5(COL5A2):c.3084A>G (p.Lys1028=) rs774936724
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser) rs187336363
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.5(COL5A2):c.3109C>T (p.Pro1037Ser)
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser) rs773168254
NM_000393.5(COL5A2):c.3147+325A>G
NM_000393.5(COL5A2):c.3148-216A>G
NM_000393.5(COL5A2):c.3148-285G>A
NM_000393.5(COL5A2):c.3148-2A>G rs1553513971
NM_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539
NM_000393.5(COL5A2):c.315C>A (p.Thr105=) rs4128539
NM_000393.5(COL5A2):c.3162T>C (p.Asn1054=) rs769755441
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala)
NM_000393.5(COL5A2):c.316A>G (p.Asn106Asp) rs1449512324
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702
NM_000393.5(COL5A2):c.3178C>A (p.Arg1060=) rs374549843
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843
NM_000393.5(COL5A2):c.3196G>A (p.Glu1066Lys)
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val)
NM_000393.5(COL5A2):c.31C>A (p.Leu11Ile)
NM_000393.5(COL5A2):c.3201+14C>T rs368713290
NM_000393.5(COL5A2):c.3202G>A (p.Gly1068Ser) rs1332988061
NM_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys) rs754429372
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) rs373288848
NM_000393.5(COL5A2):c.322+157C>T rs4128538
NM_000393.5(COL5A2):c.322+18C>G rs201708256
NM_000393.5(COL5A2):c.322+1G>C rs770598613
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=) rs149574060
NM_000393.5(COL5A2):c.323-15C>G rs766670107
NM_000393.5(COL5A2):c.323-9T>A rs1553518634
NM_000393.5(COL5A2):c.3246G>C (p.Gln1082His) rs1039715132
NM_000393.5(COL5A2):c.3248G>A (p.Gly1083Asp) rs1559076883
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser) rs761543775
NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp) rs770974455
NM_000393.5(COL5A2):c.3283G>A (p.Gly1095Arg)
NM_000393.5(COL5A2):c.3290C>T (p.Ala1097Val) rs1162768110
NM_000393.5(COL5A2):c.329G>A (p.Gly110Glu) rs863223501
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu) rs150401168
NM_000393.5(COL5A2):c.3309+100C>T
NM_000393.5(COL5A2):c.3309+107G>T
NM_000393.5(COL5A2):c.3309+16A>G rs369424272
NM_000393.5(COL5A2):c.3309+1G>A rs1553513657
NM_000393.5(COL5A2):c.3309+6G>T rs775681859
NM_000393.5(COL5A2):c.3309+7A>G rs1553513652
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.5(COL5A2):c.3311G>T (p.Gly1104Val) rs1167178682
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.5(COL5A2):c.3325A>G (p.Ile1109Val)
NM_000393.5(COL5A2):c.3338G>T (p.Gly1113Val) rs981465775
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=) rs1553513577
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys) rs1386081744
NM_000393.5(COL5A2):c.3363+2T>C rs1559076442
NM_000393.5(COL5A2):c.3364-17C>T rs201720941
NM_000393.5(COL5A2):c.337-212dup
NM_000393.5(COL5A2):c.337-26T>C rs56380683
NM_000393.5(COL5A2):c.337-310A>G
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys) rs886055354
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln) rs562950263
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro) rs144890303
NM_000393.5(COL5A2):c.3431A>G (p.His1144Arg) rs1418496907
NM_000393.5(COL5A2):c.3443C>T (p.Thr1148Ile) rs762080305
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg) rs121912930
NM_000393.5(COL5A2):c.3471+62C>T
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.3472-16T>C rs1057522404
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337
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.3513A>G (p.Pro1171=) rs754108091
NM_000393.5(COL5A2):c.3526-324C>T
NM_000393.5(COL5A2):c.3533C>A (p.Pro1178Gln) rs1060501905
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly)
NM_000393.5(COL5A2):c.3544G>T (p.Gly1182Cys) rs1057524163
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys)
NM_000393.5(COL5A2):c.3570T>C (p.Pro1190=) rs1553513205
NM_000393.5(COL5A2):c.3582G>A (p.Gly1194=) rs140022057
NM_000393.5(COL5A2):c.3583C>G (p.Pro1195Ala) rs863223496
NM_000393.5(COL5A2):c.3598G>A (p.Gly1200Ser) rs1057518566
NM_000393.5(COL5A2):c.3608G>A (p.Gly1203Asp)
NM_000393.5(COL5A2):c.3611G>A (p.Ser1204Asn) rs1060501907
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552
NM_000393.5(COL5A2):c.3633+118G>A
NM_000393.5(COL5A2):c.3633+12A>G rs886055353
NM_000393.5(COL5A2):c.3633+14G>T rs776087725
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu)
NM_000393.5(COL5A2):c.3645_3662del (p.Glu1216_Gly1221del) rs1553512960
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175
NM_000393.5(COL5A2):c.3650C>G (p.Pro1217Arg) rs863223509
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435
NM_000393.5(COL5A2):c.3662G>A (p.Gly1221Asp) rs1064796676
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.369+1G>T rs1559104199
NM_000393.5(COL5A2):c.369+20T>A rs1057523292
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.5(COL5A2):c.370-16C>T rs148220961
NM_000393.5(COL5A2):c.370-301G>A
NM_000393.5(COL5A2):c.3705T>C (p.Asp1235=) rs1057524370
NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg) rs773321546
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn) rs140851866
NM_000393.5(COL5A2):c.3733C>T (p.Pro1245Ser) rs376971803
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser) rs779153546
NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met)
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397
NM_000393.5(COL5A2):c.379A>C (p.Ile127Leu)
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val) rs1064795177
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val)
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) rs752658223
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His) rs747653593
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu) rs867460091
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=) rs199904322
NM_000393.5(COL5A2):c.3864G>A (p.Ser1288=) rs754605516
NM_000393.5(COL5A2):c.3878C>T (p.Ala1293Val) rs1251846979
NM_000393.5(COL5A2):c.3880C>T (p.Arg1294Cys) rs758136981
NM_000393.5(COL5A2):c.3883A>G (p.Thr1295Ala) rs765068787
NM_000393.5(COL5A2):c.3889G>A (p.Asp1297Asn) rs1553512886
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105
NM_000393.5(COL5A2):c.3891T>C (p.Asp1297=) rs886038290
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr) rs372897632
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184
NM_000393.5(COL5A2):c.3925+279A>G
NM_000393.5(COL5A2):c.3925+34G>A
NM_000393.5(COL5A2):c.3925+37G>T
NM_000393.5(COL5A2):c.3926-25G>C
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp) rs863223497
NM_000393.5(COL5A2):c.3969A>C (p.Ala1323=) rs1131429
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=) rs775697182
NM_000393.5(COL5A2):c.398C>T (p.Pro133Leu) rs374225489
NM_000393.5(COL5A2):c.399G>A (p.Pro133=) rs369867930
NM_000393.5(COL5A2):c.4020C>A (p.Asn1340Lys) rs771310130
NM_000393.5(COL5A2):c.403-16T>A rs117085226
NM_000393.5(COL5A2):c.403-3T>C rs369733690
NM_000393.5(COL5A2):c.403-42A>G rs73051214
NM_000393.5(COL5A2):c.4037G>A (p.Arg1346His) rs143163673
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583
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.4085A>G (p.Tyr1362Cys)
NM_000393.5(COL5A2):c.4090C>A (p.Leu1364Ile) rs777866283
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val) rs372226064
NM_000393.5(COL5A2):c.4106G>A (p.Gly1369Glu)
NM_000393.5(COL5A2):c.4113+223G>T
NM_000393.5(COL5A2):c.4113+282G>A
NM_000393.5(COL5A2):c.4113+47C>T rs12693526
NM_000393.5(COL5A2):c.4114-11T>C rs587780908
NM_000393.5(COL5A2):c.4114-14C>G
NM_000393.5(COL5A2):c.4114-17A>G rs778711548
NM_000393.5(COL5A2):c.4114-20A>G rs1057523545
NM_000393.5(COL5A2):c.4114-212G>A
NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=) rs755092575
NM_000393.5(COL5A2):c.4133A>G (p.Gln1378Arg) rs863223498
NM_000393.5(COL5A2):c.4138C>T (p.Pro1380Ser) rs145755198
NM_000393.5(COL5A2):c.4153A>G (p.Thr1385Ala) rs1169417653
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.4172G>A (p.Arg1391His) rs150931608
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=) rs78870279
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg)
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954
NM_000393.5(COL5A2):c.4298del (p.Ile1433fs) rs1553512393
NM_000393.5(COL5A2):c.4307A>G (p.Glu1436Gly) rs371259794
NM_000393.5(COL5A2):c.430G>A (p.Gly144Arg) rs869025375
NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr) rs754240060
NM_000393.5(COL5A2):c.4320A>T (p.Arg1440Ser) rs1436390158
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln) rs761126767
NM_000393.5(COL5A2):c.4332C>G (p.Ile1444Met) rs138837670
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile) rs762653511
NM_000393.5(COL5A2):c.4353+101A>G
NM_000393.5(COL5A2):c.4353+70A>G
NM_000393.5(COL5A2):c.4353+8C>G rs1057523735
NM_000393.5(COL5A2):c.4354-137T>C
NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp)
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366
NM_000393.5(COL5A2):c.4368T>C (p.Asn1456=)
NM_000393.5(COL5A2):c.4374C>T (p.Gly1458=) rs1553512315
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633
NM_000393.5(COL5A2):c.4383C>G (p.Val1461=) rs368234550
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp) rs756550702
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751
NM_000393.5(COL5A2):c.4423A>G (p.Ile1475Val) rs886039069
NM_000393.5(COL5A2):c.4438G>C (p.Val1480Leu) rs863223499
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=) rs142857608
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937
NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=) rs142895373
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile) rs200703515
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_000393.5(COL5A2):c.454C>A (p.Pro152Thr) rs1553518198
NM_000393.5(COL5A2):c.457-325C>T
NM_000393.5(COL5A2):c.457-59G>A
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys) rs767252151
NM_000393.5(COL5A2):c.490C>G (p.Pro164Ala) rs1218677057
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.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn)
NM_000393.5(COL5A2):c.567+17G>T rs780672109
NM_000393.5(COL5A2):c.567+275A>G
NM_000393.5(COL5A2):c.567+7T>C rs755666206
NM_000393.5(COL5A2):c.568-10G>A rs58106884
NM_000393.5(COL5A2):c.568-15A>G rs1057522247
NM_000393.5(COL5A2):c.568-181A>C
NM_000393.5(COL5A2):c.570G>A (p.Pro190=) rs139666335
NM_000393.5(COL5A2):c.586G>C (p.Ala196Pro) rs142855115
NM_000393.5(COL5A2):c.587C>A (p.Ala196Asp) rs746671710
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073
NM_000393.5(COL5A2):c.645+108C>T
NM_000393.5(COL5A2):c.64G>A (p.Val22Ile)
NM_000393.5(COL5A2):c.680A>G (p.Gln227Arg) rs1553517410
NM_000393.5(COL5A2):c.690+5G>T
NM_000393.5(COL5A2):c.691-261_691-260dup
NM_000393.5(COL5A2):c.698C>T (p.Ala233Val) rs863223487
NM_000393.5(COL5A2):c.712C>T (p.Pro238Ser) rs763287143
NM_000393.5(COL5A2):c.744+18A>G rs373820975
NM_000393.5(COL5A2):c.744+7G>A rs774993105
NM_000393.5(COL5A2):c.745-13G>A rs145442880
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.785A>C (p.Lys262Thr) rs1064795517
NM_000393.5(COL5A2):c.798+184C>T
NM_000393.5(COL5A2):c.798+258T>C
NM_000393.5(COL5A2):c.798+286A>G
NM_000393.5(COL5A2):c.798+43C>T
NM_000393.5(COL5A2):c.798+5G>A rs1296613540
NM_000393.5(COL5A2):c.799-6A>G rs111586240
NM_000393.5(COL5A2):c.799-7C>A rs879227018
NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser) rs1553517181
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303
NM_000393.5(COL5A2):c.852+14C>T rs56310996
NM_000393.5(COL5A2):c.853-13G>A rs1553516867
NM_000393.5(COL5A2):c.853-297A>G
NM_000393.5(COL5A2):c.853-89T>C
NM_000393.5(COL5A2):c.859C>T (p.Arg287Cys)
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val) rs1211991688
NM_000393.5(COL5A2):c.894G>C (p.Leu298=) rs186775192
NM_000393.5(COL5A2):c.905G>A (p.Arg302Gln) rs545574407
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro)
NM_000393.5(COL5A2):c.906+10A>T rs776578452
NM_000393.5(COL5A2):c.906+12C>G rs1057521955
NM_000393.5(COL5A2):c.906+14A>G rs768645507
NM_000393.5(COL5A2):c.906+28A>G
NM_000393.5(COL5A2):c.906+302C>T
NM_000393.5(COL5A2):c.907-5C>A rs756538217
NM_000393.5(COL5A2):c.955T>C (p.Ser319Pro) rs1060501908
NM_000393.5(COL5A2):c.960+228G>A
NM_000393.5(COL5A2):c.961-14T>C rs199880428
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474
NM_000393.5(COL5A2):c.98-12T>G rs117917418
NM_000393.5(COL5A2):c.98-13T>A rs376487446
NM_000393.5(COL5A2):c.98-240A>T
NM_000393.5(COL5A2):c.985A>G (p.Met329Val) rs140785678
NM_000393.5(COL5A2):c.989G>A (p.Gly330Asp) rs753514566
Single allele

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