ClinVar Miner

List of variants in gene COL5A1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 501
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HGVS dbSNP
GRCh37/hg19 9q34.3(chr9:137434514-137638766)x3
GRCh37/hg19 9q34.3(chr9:137648314-137664433)x1
GRCh37/hg19 9q34.3(chr9:137721555-137730384)x1
NC_000009.11:g.137703445A>C
NC_000009.12:g.134641788C>G rs12002679
NC_000009.12:g.134796356dup rs749260939
NC_000009.12:g.134829854del rs57187666
NM_000093.4(COL5A1):c.309_311AAC[1] (p.Thr105del) rs863223476
NM_000093.5(COL5A1):c.1170T>G (p.Ala390=) rs1588480757
NM_000093.5(COL5A1):c.1224G>T (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1230G>A (p.Arg410=) rs1272170006
NM_000093.5(COL5A1):c.1251C>T (p.Tyr417=) rs746576822
NM_000093.5(COL5A1):c.1272C>A (p.Thr424=) rs758427503
NM_000093.5(COL5A1):c.129G>A (p.Leu43=) rs1588441009
NM_000093.5(COL5A1):c.1333-8A>C rs145620416
NM_000093.5(COL5A1):c.1390-6C>T rs1381061693
NM_000093.5(COL5A1):c.1428C>G (p.Pro476=) rs745633063
NM_000093.5(COL5A1):c.1428C>T (p.Pro476=) rs745633063
NM_000093.5(COL5A1):c.1569+10dup rs1394440955
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.5(COL5A1):c.1989+1G>A
NM_000093.5(COL5A1):c.2019G>C (p.Gly673=) rs139822656
NM_000093.5(COL5A1):c.2019G>T (p.Gly673=) rs139822656
NM_000093.5(COL5A1):c.2035-10C>T rs754111650
NM_000093.5(COL5A1):c.2237C>G (p.Pro746Arg) rs1588527590
NM_000093.5(COL5A1):c.2463C>T (p.Asp821=) rs1588542906
NM_000093.5(COL5A1):c.2559T>C (p.Gly853=) rs1588545978
NM_000093.5(COL5A1):c.2601C>T (p.Leu867=) rs767014646
NM_000093.5(COL5A1):c.2655T>C (p.Ile885=) rs746323129
NM_000093.5(COL5A1):c.2706C>T (p.Thr902=) rs781027757
NM_000093.5(COL5A1):c.2808C>T (p.Ser936=) rs142849628
NM_000093.5(COL5A1):c.2845-8G>A rs775063630
NM_000093.5(COL5A1):c.2907A>G (p.Pro969=) rs1281296909
NM_000093.5(COL5A1):c.2952+9C>T rs955068180
NM_000093.5(COL5A1):c.2970C>G (p.Thr990=) rs548678914
NM_000093.5(COL5A1):c.2985C>T (p.Pro995=) rs768883188
NM_000093.5(COL5A1):c.2988C>T (p.Pro996=) rs374409202
NM_000093.5(COL5A1):c.3060del (p.Gly1021fs)
NM_000093.5(COL5A1):c.3099A>G (p.Gly1033=) rs1016663584
NM_000093.5(COL5A1):c.3165A>G (p.Leu1055=) rs1588569724
NM_000093.5(COL5A1):c.3330G>A (p.Gln1110=) rs1461218386
NM_000093.5(COL5A1):c.3367-4C>T rs1411238332
NM_000093.5(COL5A1):c.3612C>T (p.Gly1204=)
NM_000093.5(COL5A1):c.3648T>C (p.Gly1216=) rs1588577626
NM_000093.5(COL5A1):c.364G>A (p.Glu122Lys) rs1588448757
NM_000093.5(COL5A1):c.3691-6T>C rs1187330689
NM_000093.5(COL5A1):c.3804dup (p.Gln1269fs) rs1588578971
NM_000093.5(COL5A1):c.3933G>A (p.Lys1311=) rs1331038066
NM_000093.5(COL5A1):c.3936C>A (p.Gly1312=) rs367804791
NM_000093.5(COL5A1):c.3987C>G (p.Pro1329=) rs770802769
NM_000093.5(COL5A1):c.4020A>C (p.Pro1340=) rs776564144
NM_000093.5(COL5A1):c.4085C>T (p.Pro1362Leu) rs1170899907
NM_000093.5(COL5A1):c.4131C>T (p.Pro1377=) rs145101509
NM_000093.5(COL5A1):c.4231-10C>T rs772316957
NM_000093.5(COL5A1):c.4239C>T (p.Ala1413=) rs537406193
NM_000093.5(COL5A1):c.432G>A (p.Thr144=) rs528963362
NM_000093.5(COL5A1):c.669G>A (p.Gln223=) rs1300899218
NM_000093.5(COL5A1):c.756A>C (p.Pro252=) rs1030582099
NM_000093.5(COL5A1):c.762G>A (p.Ser254=) rs767928508
NM_000093.5(COL5A1):c.780T>C (p.Asp260=) rs1588476059
NM_001278074.1(COL5A1):c.-110A>G rs180741151
NM_001278074.1(COL5A1):c.-247T>G rs71483234
NM_001278074.1(COL5A1):c.109+296A>G rs117721261
NM_001278074.1(COL5A1):c.109+37G>A rs186654380
NM_001278074.1(COL5A1):c.1092C>T (p.Pro364=) rs41306391
NM_001278074.1(COL5A1):c.110-10G>A rs746555918
NM_001278074.1(COL5A1):c.110-178G>A rs16832
NM_001278074.1(COL5A1):c.110-271C>T rs10858268
NM_001278074.1(COL5A1):c.1140C>T (p.Thr380=) rs749315207
NM_001278074.1(COL5A1):c.1147A>G (p.Thr383Ala) rs747758069
NM_001278074.1(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_001278074.1(COL5A1):c.1163A>G (p.Asn388Ser) rs150837465
NM_001278074.1(COL5A1):c.1164+134A>C rs3128600
NM_001278074.1(COL5A1):c.1164+87T>A rs142673093
NM_001278074.1(COL5A1):c.1164+94C>T rs113401160
NM_001278074.1(COL5A1):c.1165-149C>T rs3124309
NM_001278074.1(COL5A1):c.1165-39G>A rs76548907
NM_001278074.1(COL5A1):c.1183G>T (p.Glu395Ter) rs1554788339
NM_001278074.1(COL5A1):c.1189G>A (p.Ala397Thr) rs762108965
NM_001278074.1(COL5A1):c.1207G>T (p.Glu403Ter) rs886043641
NM_001278074.1(COL5A1):c.1210T>C (p.Phe404Leu) rs1052185173
NM_001278074.1(COL5A1):c.1222A>G (p.Thr408Ala) rs1588480833
NM_001278074.1(COL5A1):c.1224G>A (p.Thr408=) rs139406076
NM_001278074.1(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_001278074.1(COL5A1):c.1246_1257TACTACGACCCC[1] (p.416_419YYDP[1]) rs745934765
NM_001278074.1(COL5A1):c.1263C>T (p.Tyr421=) rs373846823
NM_001278074.1(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962
NM_001278074.1(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010
NM_001278074.1(COL5A1):c.1308G>A (p.Ala436=) rs200959477
NM_001278074.1(COL5A1):c.1332+1G>T rs1064796684
NM_001278074.1(COL5A1):c.1332+46T>C rs3109675
NM_001278074.1(COL5A1):c.1332+92C>G rs3124310
NM_001278074.1(COL5A1):c.1345C>T (p.Arg449Trp) rs374020067
NM_001278074.1(COL5A1):c.1351G>A (p.Glu451Lys) rs755546104
NM_001278074.1(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_001278074.1(COL5A1):c.1389+139G>A rs114940455
NM_001278074.1(COL5A1):c.1389G>A (p.Pro463=) rs1057518771
NM_001278074.1(COL5A1):c.1390-259G>A rs78731511
NM_001278074.1(COL5A1):c.1390-277C>T rs79210210
NM_001278074.1(COL5A1):c.1390-305C>T rs7031437
NM_001278074.1(COL5A1):c.1410G>A (p.Pro470=) rs148389741
NM_001278074.1(COL5A1):c.1410G>C (p.Pro470=) rs148389741
NM_001278074.1(COL5A1):c.1429G>A (p.Ala477Thr) rs774936702
NM_001278074.1(COL5A1):c.1431G>A (p.Ala477=) rs61729545
NM_001278074.1(COL5A1):c.1432-24C>T rs3109677
NM_001278074.1(COL5A1):c.1432-5T>C rs3128612
NM_001278074.1(COL5A1):c.145C>T (p.His49Tyr) rs372168541
NM_001278074.1(COL5A1):c.1465A>G (p.Thr489Ala) rs863223468
NM_001278074.1(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_001278074.1(COL5A1):c.1502del (p.Pro501fs) rs1085307855
NM_001278074.1(COL5A1):c.1503del (p.Gly502fs) rs1554792011
NM_001278074.1(COL5A1):c.1507C>T (p.Arg503Cys) rs781485753
NM_001278074.1(COL5A1):c.1528G>A (p.Asp510Asn) rs374204025
NM_001278074.1(COL5A1):c.1535T>C (p.Leu512Pro) rs863223442
NM_001278074.1(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
NM_001278074.1(COL5A1):c.1561A>G (p.Met521Val) rs535161301
NM_001278074.1(COL5A1):c.1570-59T>C rs12686426
NM_001278074.1(COL5A1):c.1574G>A (p.Arg525Gln) rs375762619
NM_001278074.1(COL5A1):c.157G>C (p.Asp53His) rs763026096
NM_001278074.1(COL5A1):c.1595C>T (p.Ala532Val) rs369000939
NM_001278074.1(COL5A1):c.1637C>T (p.Ala546Val) rs557361751
NM_001278074.1(COL5A1):c.1662+252G>A rs12345547
NM_001278074.1(COL5A1):c.1663-1G>C rs794727114
NM_001278074.1(COL5A1):c.1688C>T (p.Pro563Leu) rs753260027
NM_001278074.1(COL5A1):c.170A>G (p.Lys57Arg) rs1131691360
NM_001278074.1(COL5A1):c.1720-111G>A rs73558066
NM_001278074.1(COL5A1):c.1720-11T>A rs863223444
NM_001278074.1(COL5A1):c.1720-157C>T rs73664130
NM_001278074.1(COL5A1):c.1720-158C>G rs73664129
NM_001278074.1(COL5A1):c.1720-34C>T rs73558067
NM_001278074.1(COL5A1):c.1720-48T>C rs10123014
NM_001278074.1(COL5A1):c.1726C>T (p.Pro576Ser) rs763246328
NM_001278074.1(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_001278074.1(COL5A1):c.1773+130C>T rs78092926
NM_001278074.1(COL5A1):c.1774-73A>G rs11103501
NM_001278074.1(COL5A1):c.1787T>C (p.Val596Ala) rs754773665
NM_001278074.1(COL5A1):c.1805C>T (p.Pro602Leu) rs749007253
NM_001278074.1(COL5A1):c.1827+295A>G rs12685536
NM_001278074.1(COL5A1):c.1827+94G>T rs78098946
NM_001278074.1(COL5A1):c.1828-170C>T rs12004527
NM_001278074.1(COL5A1):c.1828-297T>C rs10124864
NM_001278074.1(COL5A1):c.1840A>C (p.Ser614Arg) rs863223477
NM_001278074.1(COL5A1):c.1881+173G>A rs143376583
NM_001278074.1(COL5A1):c.1881+292G>A rs7025035
NM_001278074.1(COL5A1):c.1882-133A>G rs113765880
NM_001278074.1(COL5A1):c.1882-256C>T rs75558962
NM_001278074.1(COL5A1):c.1882-272C>T rs116091044
NM_001278074.1(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553
NM_001278074.1(COL5A1):c.1896C>T (p.Phe632=) rs376478864
NM_001278074.1(COL5A1):c.191C>T (p.Thr64Met) rs777376620
NM_001278074.1(COL5A1):c.1935+127G>C rs56125517
NM_001278074.1(COL5A1):c.1935+133A>T rs79294927
NM_001278074.1(COL5A1):c.1936-170G>A rs143621182
NM_001278074.1(COL5A1):c.1936-299C>T rs77630402
NM_001278074.1(COL5A1):c.1989+279T>C rs11103509
NM_001278074.1(COL5A1):c.1990-219G>A rs11103510
NM_001278074.1(COL5A1):c.2032C>T (p.Pro678Ser) rs756190610
NM_001278074.1(COL5A1):c.2034+1G>A rs886042173
NM_001278074.1(COL5A1):c.2034+24C>T rs41298367
NM_001278074.1(COL5A1):c.2034+256C>T rs73664133
NM_001278074.1(COL5A1):c.2038C>T (p.Pro680Ser) rs376920171
NM_001278074.1(COL5A1):c.2044G>A (p.Gly682Ser) rs1588524307
NM_001278074.1(COL5A1):c.2049G>C (p.Leu683=) rs1060504529
NM_001278074.1(COL5A1):c.2070A>G (p.Pro690=) rs1060504527
NM_001278074.1(COL5A1):c.2079C>T (p.Pro693=) rs186098435
NM_001278074.1(COL5A1):c.2088+227G>A rs12351175
NM_001278074.1(COL5A1):c.2089-288C>T rs79878246
NM_001278074.1(COL5A1):c.2089-8G>A rs368595229
NM_001278074.1(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_001278074.1(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811
NM_001278074.1(COL5A1):c.212C>T (p.Pro71Leu) rs779540528
NM_001278074.1(COL5A1):c.2133+73G>A rs41306800
NM_001278074.1(COL5A1):c.2134-116T>C rs4842159
NM_001278074.1(COL5A1):c.2134-238A>G rs4842157
NM_001278074.1(COL5A1):c.2140C>T (p.Gln714Ter) rs1554796176
NM_001278074.1(COL5A1):c.2159dup (p.Gly721fs) rs863223469
NM_001278074.1(COL5A1):c.2162dup (p.Gln722fs) rs863223470
NM_001278074.1(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655
NM_001278074.1(COL5A1):c.2181C>T (p.Gly727=) rs201298716
NM_001278074.1(COL5A1):c.2187+101C>T rs72774432
NM_001278074.1(COL5A1):c.2196A>G (p.Pro732=) rs1588526318
NM_001278074.1(COL5A1):c.219C>T (p.Val73=) rs774691915
NM_001278074.1(COL5A1):c.2232+36C>T rs45622539
NM_001278074.1(COL5A1):c.2233-62G>T rs4842162
NM_001278074.1(COL5A1):c.2253C>T (p.Gly751=) rs772257562
NM_001278074.1(COL5A1):c.2281C>T (p.Pro761Ser) rs140486644
NM_001278074.1(COL5A1):c.2285C>T (p.Pro762Leu) rs138259992
NM_001278074.1(COL5A1):c.2286+146T>C rs10776901
NM_001278074.1(COL5A1):c.2286+223G>C rs72774437
NM_001278074.1(COL5A1):c.2286+66A>G rs10776900
NM_001278074.1(COL5A1):c.2287-180G>A rs147488096
NM_001278074.1(COL5A1):c.2287-260T>G rs12685359
NM_001278074.1(COL5A1):c.2331+11G>A rs753145256
NM_001278074.1(COL5A1):c.2331+191G>C rs7470855
NM_001278074.1(COL5A1):c.2332-177G>A rs72774444
NM_001278074.1(COL5A1):c.2332-20C>T rs1588534559
NM_001278074.1(COL5A1):c.2332-291G>A rs4842165
NM_001278074.1(COL5A1):c.2332-9T>G rs1554797620
NM_001278074.1(COL5A1):c.2347_2348insT (p.Gln783fs) rs863223471
NM_001278074.1(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229
NM_001278074.1(COL5A1):c.2382C>T (p.Val794=) rs758190171
NM_001278074.1(COL5A1):c.2385+15C>T rs937874882
NM_001278074.1(COL5A1):c.2385+250G>T rs72774445
NM_001278074.1(COL5A1):c.2385G>A (p.Lys795=) rs1554797638
NM_001278074.1(COL5A1):c.2424C>T (p.Gly808=) rs139343205
NM_001278074.1(COL5A1):c.2430+196C>T rs75545068
NM_001278074.1(COL5A1):c.2430+20C>T rs3124932
NM_001278074.1(COL5A1):c.2430+290A>G rs34226173
NM_001278074.1(COL5A1):c.2430+4A>C rs772211603
NM_001278074.1(COL5A1):c.2431-25G>A rs41310213
NM_001278074.1(COL5A1):c.2431-289C>G rs62574086
NM_001278074.1(COL5A1):c.2431-295_2431-294del rs552255261
NM_001278074.1(COL5A1):c.2431-57C>T rs117990742
NM_001278074.1(COL5A1):c.2431-7T>C rs1060504531
NM_001278074.1(COL5A1):c.2434G>A (p.Glu812Lys) rs1554798924
NM_001278074.1(COL5A1):c.2482C>T (p.Arg828Trp) rs185912761
NM_001278074.1(COL5A1):c.2483G>A (p.Arg828Gln) rs781317910
NM_001278074.1(COL5A1):c.2484+118G>A rs55633279
NM_001278074.1(COL5A1):c.2484+14G>A rs371753763
NM_001278074.1(COL5A1):c.2485-146T>C rs7865186
NM_001278074.1(COL5A1):c.2485-147G>C rs7873607
NM_001278074.1(COL5A1):c.2485-160C>T rs7855854
NM_001278074.1(COL5A1):c.2485-183T>A rs7865167
NM_001278074.1(COL5A1):c.2485-191C>A rs7855838
NM_001278074.1(COL5A1):c.2485-199G>A rs141771518
NM_001278074.1(COL5A1):c.2485-201C>T rs138282798
NM_001278074.1(COL5A1):c.2485-34_2485-33insGGCA rs376936600
NM_001278074.1(COL5A1):c.2485-39_2485-38insT rs779225921
NM_001278074.1(COL5A1):c.2485-39_2485-38insTGT rs779225921
NM_001278074.1(COL5A1):c.2485-90T>C rs62571363
NM_001278074.1(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_001278074.1(COL5A1):c.2524C>A (p.Pro842Thr) rs1588545921
NM_001278074.1(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_001278074.1(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264
NM_001278074.1(COL5A1):c.2592+209T>C rs12005214
NM_001278074.1(COL5A1):c.2592+288C>T rs12003876
NM_001278074.1(COL5A1):c.2592+293A>G rs12004736
NM_001278074.1(COL5A1):c.2592+298G>A rs71506922
NM_001278074.1(COL5A1):c.2592+314C>T rs3124933
NM_001278074.1(COL5A1):c.2593-253A>C rs34089816
NM_001278074.1(COL5A1):c.2593-3C>T rs199895142
NM_001278074.1(COL5A1):c.2593-45G>A rs45497895
NM_001278074.1(COL5A1):c.2646+144T>C rs3124934
NM_001278074.1(COL5A1):c.2646+216G>A rs147295959
NM_001278074.1(COL5A1):c.2646+287G>A rs13286048
NM_001278074.1(COL5A1):c.2646+91C>T rs62571364
NM_001278074.1(COL5A1):c.2647-250C>T rs377726116
NM_001278074.1(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_001278074.1(COL5A1):c.2701-103C>A rs41306388
NM_001278074.1(COL5A1):c.2701-186T>C rs114433844
NM_001278074.1(COL5A1):c.2701-22C>T rs4072883
NM_001278074.1(COL5A1):c.2701-301G>A rs75633644
NM_001278074.1(COL5A1):c.2708C>T (p.Pro903Leu) rs780406577
NM_001278074.1(COL5A1):c.2709T>C (p.Pro903=) rs749844592
NM_001278074.1(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_001278074.1(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_001278074.1(COL5A1):c.273C>A (p.Tyr91Ter) rs1341789008
NM_001278074.1(COL5A1):c.2745+15A>T rs79481146
NM_001278074.1(COL5A1):c.2745+66A>G rs4072882
NM_001278074.1(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865
NM_001278074.1(COL5A1):c.2765G>T (p.Gly922Val) rs1564463870
NM_001278074.1(COL5A1):c.277+146G>A rs78716219
NM_001278074.1(COL5A1):c.278-224T>C rs79433864
NM_001278074.1(COL5A1):c.278-50T>C rs372237723
NM_001278074.1(COL5A1):c.2784del (p.Lys929fs) rs863223472
NM_001278074.1(COL5A1):c.2799+153C>T rs4842167
NM_001278074.1(COL5A1):c.2799+22C>T rs76855839
NM_001278074.1(COL5A1):c.2799+33G>A rs111253752
NM_001278074.1(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_001278074.1(COL5A1):c.2800-172T>C rs10776902
NM_001278074.1(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874
NM_001278074.1(COL5A1):c.2844+163T>G rs3811162
NM_001278074.1(COL5A1):c.2844+41G>T rs76043837
NM_001278074.1(COL5A1):c.2845-117A>G rs3811161
NM_001278074.1(COL5A1):c.2845-11T>C rs769433136
NM_001278074.1(COL5A1):c.2845-37A>G rs3811159
NM_001278074.1(COL5A1):c.2845-70A>G rs3811160
NM_001278074.1(COL5A1):c.2845-90G>A rs140168393
NM_001278074.1(COL5A1):c.2892C>T (p.Gly964=) rs78511105
NM_001278074.1(COL5A1):c.2894C>T (p.Pro965Leu) rs376435205
NM_001278074.1(COL5A1):c.2898+114C>T rs139330287
NM_001278074.1(COL5A1):c.2898+116G>A rs72774465
NM_001278074.1(COL5A1):c.2898+287TC[3] rs10636721
NM_001278074.1(COL5A1):c.2899-261G>A rs10776905
NM_001278074.1(COL5A1):c.2899-273C>T rs62571397
NM_001278074.1(COL5A1):c.2899-318A>G rs10745385
NM_001278074.1(COL5A1):c.2899-72G>A rs73561905
NM_001278074.1(COL5A1):c.292G>A (p.Glu98Lys) rs369126350
NM_001278074.1(COL5A1):c.292G>T (p.Glu98Ter) rs369126350
NM_001278074.1(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246
NM_001278074.1(COL5A1):c.2952+11A>T rs4240707
NM_001278074.1(COL5A1):c.2953-235AG[3] rs56665904
NM_001278074.1(COL5A1):c.2953-301G>C rs62571400
NM_001278074.1(COL5A1):c.2983C>A (p.Pro995Thr) rs187022757
NM_001278074.1(COL5A1):c.2989G>A (p.Gly997Ser) rs863223445
NM_001278074.1(COL5A1):c.298T>G (p.Phe100Val) rs761639579
NM_001278074.1(COL5A1):c.3007-36C>G rs73561924
NM_001278074.1(COL5A1):c.3007-96G>A rs41311216
NM_001278074.1(COL5A1):c.3013A>G (p.Thr1005Ala) rs863223446
NM_001278074.1(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010
NM_001278074.1(COL5A1):c.3055C>T (p.Pro1019Ser) rs193920927
NM_001278074.1(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_001278074.1(COL5A1):c.3069dup (p.Gly1024fs) rs863223473
NM_001278074.1(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609
NM_001278074.1(COL5A1):c.3115-108C>T rs62571403
NM_001278074.1(COL5A1):c.3115-67G>A rs114607788
NM_001278074.1(COL5A1):c.315T>C (p.Thr105=) rs1232024630
NM_001278074.1(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_001278074.1(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796
NM_001278074.1(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
NM_001278074.1(COL5A1):c.3236C>T (p.Pro1079Leu) rs863223447
NM_001278074.1(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707
NM_001278074.1(COL5A1):c.3254C>T (p.Pro1085Leu) rs1588570027
NM_001278074.1(COL5A1):c.3258+150A>G rs62571404
NM_001278074.1(COL5A1):c.3258+258T>C rs72774468
NM_001278074.1(COL5A1):c.3258G>A (p.Ala1086=) rs372844807
NM_001278074.1(COL5A1):c.3259-22C>T rs78743504
NM_001278074.1(COL5A1):c.3259-99A>T rs78713145
NM_001278074.1(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_001278074.1(COL5A1):c.3312A>G (p.Pro1104=) rs1554803839
NM_001278074.1(COL5A1):c.3341G>C (p.Gly1114Ala) rs926426117
NM_001278074.1(COL5A1):c.3344C>T (p.Pro1115Leu) rs139039658
NM_001278074.1(COL5A1):c.3350G>C (p.Gly1117Ala) rs863223448
NM_001278074.1(COL5A1):c.3361G>C (p.Ala1121Pro) rs863223449
NM_001278074.1(COL5A1):c.3366+245C>A rs138196691
NM_001278074.1(COL5A1):c.3367-280T>G rs11103534
NM_001278074.1(COL5A1):c.3367-281C>T rs188531160
NM_001278074.1(COL5A1):c.3367-86C>T rs62571406
NM_001278074.1(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_001278074.1(COL5A1):c.3398G>A (p.Arg1133Gln) rs759580799
NM_001278074.1(COL5A1):c.3402C>T (p.Asp1134=) rs138251296
NM_001278074.1(COL5A1):c.3403G>A (p.Gly1135Ser) rs775559638
NM_001278074.1(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206
NM_001278074.1(COL5A1):c.3465C>T (p.Asp1155=) rs145134399
NM_001278074.1(COL5A1):c.3474+255G>A rs11103536
NM_001278074.1(COL5A1):c.3474+64G>A rs41310211
NM_001278074.1(COL5A1):c.3475-299A>G rs3811153
NM_001278074.1(COL5A1):c.3528+295T>C rs34766531
NM_001278074.1(COL5A1):c.3529-172G>A rs73664146
NM_001278074.1(COL5A1):c.3545C>T (p.Thr1182Ile) rs1057524867
NM_001278074.1(COL5A1):c.354C>T (p.Ser118=) rs748711211
NM_001278074.1(COL5A1):c.3551C>T (p.Pro1184Leu) rs749093832
NM_001278074.1(COL5A1):c.3564C>A (p.Ile1188=) rs766961124
NM_001278074.1(COL5A1):c.3582+4A>C rs1064796967
NM_001278074.1(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_001278074.1(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079
NM_001278074.1(COL5A1):c.3622C>T (p.Leu1208Phe) rs863223450
NM_001278074.1(COL5A1):c.3627C>T (p.Phe1209=) rs748000980
NM_001278074.1(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_001278074.1(COL5A1):c.36G>A (p.Ala12=) rs1029930975
NM_001278074.1(COL5A1):c.3720T>C (p.Gly1240=) rs1554805072
NM_001278074.1(COL5A1):c.3726_3732del (p.Gly1243fs) rs1554805076
NM_001278074.1(COL5A1):c.3744+39C>T rs192855430
NM_001278074.1(COL5A1):c.3745-18G>A rs45556931
NM_001278074.1(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_001278074.1(COL5A1):c.3764G>A (p.Gly1255Asp) rs1064796975
NM_001278074.1(COL5A1):c.3770G>A (p.Arg1257Gln) rs141768094
NM_001278074.1(COL5A1):c.3780C>T (p.Ser1260=) rs150591401
NM_001278074.1(COL5A1):c.3781G>A (p.Gly1261Arg) rs772445337
NM_001278074.1(COL5A1):c.3788C>T (p.Pro1263Leu) rs140244245
NM_001278074.1(COL5A1):c.3815C>A (p.Pro1272Gln) rs369684394
NM_001278074.1(COL5A1):c.3815C>T (p.Pro1272Leu) rs369684394
NM_001278074.1(COL5A1):c.383T>C (p.Ile128Thr) rs863223464
NM_001278074.1(COL5A1):c.3852+181A>G rs73664148
NM_001278074.1(COL5A1):c.3853-125C>A rs191746934
NM_001278074.1(COL5A1):c.3853-50G>A rs7849016
NM_001278074.1(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_001278074.1(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451
NM_001278074.1(COL5A1):c.3870A>G (p.Ala1290=) rs541963919
NM_001278074.1(COL5A1):c.3905C>T (p.Pro1302Leu) rs201920777
NM_001278074.1(COL5A1):c.3906+10C>T rs183881247
NM_001278074.1(COL5A1):c.3906+34A>G rs113940604
NM_001278074.1(COL5A1):c.3906+3G>T rs786200922
NM_001278074.1(COL5A1):c.3907-258A>G rs4841933
NM_001278074.1(COL5A1):c.3936C>T (p.Gly1312=) rs367804791
NM_001278074.1(COL5A1):c.3960C>T (p.Ala1320=) rs1057524173
NM_001278074.1(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_001278074.1(COL5A1):c.3987C>T (p.Pro1329=) rs770802769
NM_001278074.1(COL5A1):c.4014+209A>G rs62571407
NM_001278074.1(COL5A1):c.4015-212C>T rs144404774
NM_001278074.1(COL5A1):c.4015-30C>T rs375387898
NM_001278074.1(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_001278074.1(COL5A1):c.4050C>A (p.Pro1350=) rs773853291
NM_001278074.1(COL5A1):c.4050C>T (p.Pro1350=) rs773853291
NM_001278074.1(COL5A1):c.4067C>T (p.Ala1356Val) rs766796504
NM_001278074.1(COL5A1):c.4068+11A>G rs371926479
NM_001278074.1(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_001278074.1(COL5A1):c.409G>T (p.Val137Phe) rs145757313
NM_001278074.1(COL5A1):c.4113C>T (p.Pro1371=) rs143794669
NM_001278074.1(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748
NM_001278074.1(COL5A1):c.4122+287G>A rs9942862
NM_001278074.1(COL5A1):c.4122+97C>A rs79991766
NM_001278074.1(COL5A1):c.4122G>A (p.Thr1374=) rs3827848
NM_001278074.1(COL5A1):c.4123-302C>G rs115918918
NM_001278074.1(COL5A1):c.4123-303C>A rs116404572
NM_001278074.1(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_001278074.1(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_001278074.1(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942
NM_001278074.1(COL5A1):c.4172A>G (p.Lys1391Arg) rs201801000
NM_001278074.1(COL5A1):c.4175G>A (p.Arg1392Lys) rs863223479
NM_001278074.1(COL5A1):c.4176+257C>G rs11103537
NM_001278074.1(COL5A1):c.4176+3A>T rs1554806134
NM_001278074.1(COL5A1):c.4176+9T>G rs10858282
NM_001278074.1(COL5A1):c.4177-151G>T rs113755365
NM_001278074.1(COL5A1):c.4184del (p.Pro1395fs) rs794727760
NM_001278074.1(COL5A1):c.420C>T (p.Tyr140=) rs540553997
NM_001278074.1(COL5A1):c.4230G>C (p.Lys1410Asn) rs863223453
NM_001278074.1(COL5A1):c.4231-183G>A rs73664150
NM_001278074.1(COL5A1):c.4231-228G>A rs77174824
NM_001278074.1(COL5A1):c.4234G>A (p.Glu1412Lys) rs376893441
NM_001278074.1(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663
NM_001278074.1(COL5A1):c.4241G>C (p.Gly1414Ala) rs556167410
NM_001278074.1(COL5A1):c.427C>A (p.His143Asn) rs863223465
NM_001278074.1(COL5A1):c.4282C>T (p.Gln1428Ter) rs863223454
NM_001278074.1(COL5A1):c.4283del (p.Gln1428fs) rs863223474
NM_001278074.1(COL5A1):c.4288G>A (p.Ala1430Thr) rs863223455
NM_001278074.1(COL5A1):c.4290C>T (p.Ala1430=) rs368011067
NM_001278074.1(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702
NM_001278074.1(COL5A1):c.4319G>A (p.Arg1440Gln) rs758650140
NM_001278074.1(COL5A1):c.4326C>A (p.Ile1442=) rs942145911
NM_001278074.1(COL5A1):c.4366G>A (p.Gly1456Ser) rs1564481153
NM_001278074.1(COL5A1):c.4367G>T (p.Gly1456Val) rs1564481157
NM_001278074.1(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250
NM_001278074.1(COL5A1):c.4371G>A (p.Pro1457=) rs756096066
NM_001278074.1(COL5A1):c.4378C>A (p.Pro1460Thr) rs773125713
NM_001278074.1(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
NM_001278074.1(COL5A1):c.4392+4A>C rs863223456
NM_001278074.1(COL5A1):c.4392+5G>A rs886043312
NM_001278074.1(COL5A1):c.4402G>A (p.Gly1468Arg) rs1554806670
NM_001278074.1(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_001278074.1(COL5A1):c.4446+134A>C rs9696591
NM_001278074.1(COL5A1):c.458C>T (p.Pro153Leu) rs771925785
NM_001278074.1(COL5A1):c.467G>A (p.Arg156Gln) rs770896795
NM_001278074.1(COL5A1):c.491+271C>T rs11103470
NM_001278074.1(COL5A1):c.491+92C>T rs11103469
NM_001278074.1(COL5A1):c.492-16A>G rs775028310
NM_001278074.1(COL5A1):c.492-280C>T rs10858272
NM_001278074.1(COL5A1):c.492-56T>C rs4341231
NM_001278074.1(COL5A1):c.492-76C>G rs73665738
NM_001278074.1(COL5A1):c.497A>G (p.His166Arg) rs1057524357
NM_001278074.1(COL5A1):c.514G>A (p.Val172Ile) rs150147262
NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_001278074.1(COL5A1):c.526A>C (p.Asn176His) rs369396868
NM_001278074.1(COL5A1):c.528T>C (p.Asn176=) rs769674770
NM_001278074.1(COL5A1):c.52C>T (p.Pro18Ser) rs1060502260
NM_001278074.1(COL5A1):c.543C>T (p.Leu181=) rs368485498
NM_001278074.1(COL5A1):c.558G>A (p.Lys186=) rs1564397188
NM_001278074.1(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_001278074.1(COL5A1):c.654+105G>A rs138162275
NM_001278074.1(COL5A1):c.654+213C>T rs3922644
NM_001278074.1(COL5A1):c.654+73G>A rs4523334
NM_001278074.1(COL5A1):c.655-106G>A rs116164506
NM_001278074.1(COL5A1):c.655-142G>A rs3124298
NM_001278074.1(COL5A1):c.655-320G>A rs62571354
NM_001278074.1(COL5A1):c.65C>A (p.Pro22Gln) rs863223467
NM_001278074.1(COL5A1):c.65C>G (p.Pro22Arg) rs863223467
NM_001278074.1(COL5A1):c.660C>G (p.Asp220Glu) rs570691491
NM_001278074.1(COL5A1):c.67_69CTG[7] (p.Leu28dup) rs773994971
NM_001278074.1(COL5A1):c.680T>C (p.Val227Ala) rs376144196
NM_001278074.1(COL5A1):c.683C>T (p.Ser228Leu) rs770737485
NM_001278074.1(COL5A1):c.691C>T (p.Arg231Trp) rs775853003
NM_001278074.1(COL5A1):c.6C>G (p.Asp2Glu) rs1064796482
NM_001278074.1(COL5A1):c.727G>A (p.Asp243Asn) rs758431206
NM_001278074.1(COL5A1):c.730_731TG[1] (p.Cys244_Asp245delinsTer) rs1554787557
NM_001278074.1(COL5A1):c.738C>T (p.Thr246=) rs3124299
NM_001278074.1(COL5A1):c.739G>A (p.Ala247Thr) rs769115550
NM_001278074.1(COL5A1):c.753C>T (p.Thr251=) rs374813957
NM_001278074.1(COL5A1):c.754C>T (p.Pro252Ser) rs369781295
NM_001278074.1(COL5A1):c.786+182T>G rs3109683
NM_001278074.1(COL5A1):c.786+271G>C rs3128587
NM_001278074.1(COL5A1):c.787-15G>A rs150200872
NM_001278074.1(COL5A1):c.787-180G>A rs3128595
NM_001278074.1(COL5A1):c.787-181C>T rs111936833
NM_001278074.1(COL5A1):c.787-42C>T rs3124302
NM_001278074.1(COL5A1):c.787-8G>A rs780803048
NM_001278074.1(COL5A1):c.787-99G>A rs41310209
NM_001278074.1(COL5A1):c.792G>T (p.Thr264=) rs757360763
NM_001278074.1(COL5A1):c.802G>A (p.Gly268Ser) rs748603743
NM_001278074.1(COL5A1):c.804C>T (p.Gly268=) rs147729713
NM_001278074.1(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_001278074.1(COL5A1):c.849C>T (p.Pro283=) rs761805821
NM_001278074.1(COL5A1):c.850G>A (p.Glu284Lys) rs75648697
NM_001278074.1(COL5A1):c.888C>T (p.Pro296=) rs747624704
NM_001278074.1(COL5A1):c.904G>T (p.Glu302Ter) rs1554787811
NM_001278074.1(COL5A1):c.921C>T (p.Pro307=) rs144335980
NM_001278074.1(COL5A1):c.924+148G>C rs114738957
NM_001278074.1(COL5A1):c.924+194A>C rs3128597
NM_001278074.1(COL5A1):c.924+297C>A rs146783021
NM_001278074.1(COL5A1):c.924+35C>A rs112243377
NM_001278074.1(COL5A1):c.925-180C>T rs187927679
NM_001278074.1(COL5A1):c.925-43G>A rs3128598
NM_001278074.1(COL5A1):c.925-49A>G rs3124308
NM_001278074.1(COL5A1):c.925-63C>T rs77043106
NM_001278074.1(COL5A1):c.944C>T (p.Thr315Met) rs145093766
NM_001278074.1(COL5A1):c.945G>A (p.Thr315=) rs149123775
NM_001278074.1(COL5A1):c.94C>T (p.Pro32Ser) rs886042620
NM_001278074.1(COL5A1):c.962C>T (p.Pro321Leu) rs1085307805
NM_001278074.1(COL5A1):c.964G>A (p.Glu322Lys) rs199857770
NM_001278074.1(COL5A1):c.977G>A (p.Gly326Glu) rs748152732
NM_001278074.1(COL5A1):c.987G>A (p.Lys329=) rs769516996
NM_001278074.1(COL5A1):c.999C>T (p.Val333=) rs138702819

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