ClinVar Miner

List of variants in gene COL5A1 studied for Ehlers-Danlos syndrome, classic type

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Gene type:
ClinVar version:
Total variants: 441
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HGVS dbSNP
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NC_000009.11:g.(?_137533651)_(137534142_?)dup
NC_000009.11:g.(?_137534024)_(137660319_?)del
NC_000009.11:g.(?_137582738)_(137582945_?)del
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NC_000009.11:g.(?_137582738)_(137655603_?)del
NC_000009.11:g.(?_137582748)_(137619253_?)del
NC_000009.11:g.(?_137591735)_(137591988_?)del
NC_000009.11:g.(?_137619092)_(137620673_?)del
NC_000009.11:g.(?_137644415)_(137644511_?)del
NM_000093.4(COL5A1):c.1044G>T (p.Thr348=) rs1246095864
NM_000093.4(COL5A1):c.1048T>C (p.Ser350Pro)
NM_000093.4(COL5A1):c.1052C>A (p.Pro351Gln)
NM_000093.4(COL5A1):c.1062C>T (p.Asp354=) rs61737708
NM_000093.4(COL5A1):c.1075G>A (p.Glu359Lys)
NM_000093.4(COL5A1):c.1075G>T (p.Glu359Ter) rs769752636
NM_000093.4(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_000093.4(COL5A1):c.1092C>T (p.Pro364=) rs41306391
NM_000093.4(COL5A1):c.110-10G>A rs746555918
NM_000093.4(COL5A1):c.110-3C>G rs1554780148
NM_000093.4(COL5A1):c.1114G>A (p.Ala372Thr)
NM_000093.4(COL5A1):c.1119G>A (p.Gly373=) rs1060504528
NM_000093.4(COL5A1):c.1120G>A (p.Ala374Thr)
NM_000093.4(COL5A1):c.1140C>T (p.Thr380=) rs749315207
NM_000093.4(COL5A1):c.1143C>T (p.Ala381=) rs200245996
NM_000093.4(COL5A1):c.1144G>A (p.Asp382Asn)
NM_000093.4(COL5A1):c.1147A>G (p.Thr383Ala) rs747758069
NM_000093.4(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_000093.4(COL5A1):c.1175C>T (p.Pro392Leu) rs1290737803
NM_000093.4(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.4(COL5A1):c.1224G>A (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.1228C>T (p.Arg410Trp)
NM_000093.4(COL5A1):c.1239C>G (p.Asp413Glu)
NM_000093.4(COL5A1):c.1240G>A (p.Glu414Lys)
NM_000093.4(COL5A1):c.1246_1257TACTACGACCCC[1] (p.416_419YYDP[1]) rs745934765
NM_000093.4(COL5A1):c.1246_1257TACTACGACCCC[3] (p.416_419YYDP[3])
NM_000093.4(COL5A1):c.1263C>T (p.Tyr421=) rs373846823
NM_000093.4(COL5A1):c.1264G>C (p.Asp422His) rs760798318
NM_000093.4(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_000093.4(COL5A1):c.126_128del (p.Leu43del) rs1564390373
NM_000093.4(COL5A1):c.1271C>G (p.Thr424Ser) rs752619850
NM_000093.4(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133
NM_000093.4(COL5A1):c.1281G>A (p.Pro427=) rs147292897
NM_000093.4(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962
NM_000093.4(COL5A1):c.1291G>A (p.Gly431Arg) rs962170388
NM_000093.4(COL5A1):c.1292G>A (p.Gly431Glu)
NM_000093.4(COL5A1):c.1295C>T (p.Pro432Leu) rs140943202
NM_000093.4(COL5A1):c.12T>C (p.His4=) rs368818087
NM_000093.4(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010
NM_000093.4(COL5A1):c.1307C>T (p.Ala436Val) rs144269434
NM_000093.4(COL5A1):c.1308G>A (p.Ala436=) rs200959477
NM_000093.4(COL5A1):c.1316A>T (p.Asp439Val) rs1060502244
NM_000093.4(COL5A1):c.1333-6_1333-5insAGATTGTC
NM_000093.4(COL5A1):c.1333-8A>G rs145620416
NM_000093.4(COL5A1):c.1340G>A (p.Gly447Glu)
NM_000093.4(COL5A1):c.1345C>T (p.Arg449Trp) rs374020067
NM_000093.4(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_000093.4(COL5A1):c.1352A>T (p.Glu451Val) rs1060502243
NM_000093.4(COL5A1):c.1364del (p.Lys455fs) rs1564418237
NM_000093.4(COL5A1):c.1383C>G (p.Ile461Met)
NM_000093.4(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_000093.4(COL5A1):c.1384G>C (p.Glu462Gln)
NM_000093.4(COL5A1):c.1388C>T (p.Pro463Leu) rs201375465
NM_000093.4(COL5A1):c.1389+7A>T rs1281999280
NM_000093.4(COL5A1):c.1401C>T (p.Ile467=) rs1452745305
NM_000093.4(COL5A1):c.1402G>A (p.Glu468Lys) rs754948598
NM_000093.4(COL5A1):c.1429G>A (p.Ala477Thr) rs774936702
NM_000093.4(COL5A1):c.1431+10C>T rs1176378428
NM_000093.4(COL5A1):c.1431G>A (p.Ala477=) rs61729545
NM_000093.4(COL5A1):c.1440C>T (p.Pro480=) rs150940930
NM_000093.4(COL5A1):c.1442G>T (p.Gly481Val)
NM_000093.4(COL5A1):c.145C>T (p.His49Tyr) rs372168541
NM_000093.4(COL5A1):c.1462C>T (p.Pro488Ser) rs1238395732
NM_000093.4(COL5A1):c.1476C>T (p.Val492=) rs141093527
NM_000093.4(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_000093.4(COL5A1):c.1507C>T (p.Arg503Cys) rs781485753
NM_000093.4(COL5A1):c.1508G>A (p.Arg503His)
NM_000093.4(COL5A1):c.1539C>T (p.Pro513=) rs151173863
NM_000093.4(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
NM_000093.4(COL5A1):c.1561A>G (p.Met521Val) rs535161301
NM_000093.4(COL5A1):c.1566G>A (p.Leu522=) rs61737941
NM_000093.4(COL5A1):c.1569+6T>C
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.4(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.4(COL5A1):c.1591G>A (p.Asp531Asn)
NM_000093.4(COL5A1):c.1595C>T (p.Ala532Val) rs369000939
NM_000093.4(COL5A1):c.1637C>T (p.Ala546Val) rs557361751
NM_000093.4(COL5A1):c.1638G>A (p.Ala546=) rs775508023
NM_000093.4(COL5A1):c.1668A>G (p.Ala556=) rs750022273
NM_000093.4(COL5A1):c.1701A>C (p.Thr567=) rs143647239
NM_000093.4(COL5A1):c.1719+8A>T rs747192480
NM_000093.4(COL5A1):c.1720-136_1929del
NM_000093.4(COL5A1):c.1726C>T (p.Pro576Ser) rs763246328
NM_000093.4(COL5A1):c.1734C>T (p.Ser578=) rs148094039
NM_000093.4(COL5A1):c.1754C>T (p.Pro585Leu) rs530442560
NM_000093.4(COL5A1):c.1774-7C>A rs371941850
NM_000093.4(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_000093.4(COL5A1):c.1787T>C (p.Val596Ala) rs754773665
NM_000093.4(COL5A1):c.1797G>A (p.Pro599=) rs201463583
NM_000093.4(COL5A1):c.1805C>T (p.Pro602Leu) rs749007253
NM_000093.4(COL5A1):c.1816C>T (p.Pro606Ser)
NM_000093.4(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970
NM_000093.4(COL5A1):c.1832G>A (p.Arg611Gln)
NM_000093.4(COL5A1):c.1850C>T (p.Ala617Val)
NM_000093.4(COL5A1):c.186C>T (p.Cys62=) rs778516121
NM_000093.4(COL5A1):c.1882-5delT rs1554793544
NM_000093.4(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553
NM_000093.4(COL5A1):c.1896C>T (p.Phe632=) rs376478864
NM_000093.4(COL5A1):c.1899C>T (p.Asp633=) rs757951119
NM_000093.4(COL5A1):c.1920C>T (p.Gly640=) rs781663334
NM_000093.4(COL5A1):c.1923G>T (p.Glu641Asp)
NM_000093.4(COL5A1):c.1926G>T (p.Lys642Asn) rs918992441
NM_000093.4(COL5A1):c.1935+8T>G rs79195626
NM_000093.4(COL5A1):c.1936-10C>T rs779506561
NM_000093.4(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_000093.4(COL5A1):c.194G>A (p.Arg65Gln) rs116003670
NM_000093.4(COL5A1):c.1953C>T (p.Ser651=) rs78215347
NM_000093.4(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828
NM_000093.4(COL5A1):c.197G>C (p.Arg66Pro)
NM_000093.4(COL5A1):c.1998C>T (p.Asp666=) rs143858735
NM_000093.4(COL5A1):c.2030A>T (p.Glu677Val) rs1564443811
NM_000093.4(COL5A1):c.2031G>A (p.Glu677=) rs61737719
NM_000093.4(COL5A1):c.2034+1G>A rs886042173
NM_000093.4(COL5A1):c.2042G>A (p.Arg681His)
NM_000093.4(COL5A1):c.2049G>C (p.Leu683=) rs1060504529
NM_000093.4(COL5A1):c.2058G>A (p.Pro686=) rs143443499
NM_000093.4(COL5A1):c.2070A>G (p.Pro690=) rs1060504527
NM_000093.4(COL5A1):c.2088C>T (p.Pro696=) rs146757272
NM_000093.4(COL5A1):c.2089-8G>A rs368595229
NM_000093.4(COL5A1):c.2089-9C>T rs181246690
NM_000093.4(COL5A1):c.2092_2093delinsCA (p.Val698His) rs1554796087
NM_000093.4(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_000093.4(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811
NM_000093.4(COL5A1):c.2143G>T (p.Gly715Ter) rs1060502258
NM_000093.4(COL5A1):c.2155C>T (p.Pro719Ser) rs1564446104
NM_000093.4(COL5A1):c.2164C>T (p.Gln722Ter) rs1564446117
NM_000093.4(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655
NM_000093.4(COL5A1):c.2181C>T (p.Gly727=)
NM_000093.4(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_000093.4(COL5A1):c.2187+4A>G
NM_000093.4(COL5A1):c.2203dup (p.Gln735fs) rs1057519596
NM_000093.4(COL5A1):c.2222C>T (p.Pro741Leu) rs1422097890
NM_000093.4(COL5A1):c.2232+4G>C rs1060502257
NM_000093.4(COL5A1):c.2268C>T (p.Pro756=) rs367755808
NM_000093.4(COL5A1):c.2269G>A (p.Gly757Ser) rs1464394247
NM_000093.4(COL5A1):c.226_227AG[1] (p.Arg76fs) rs1060502242
NM_000093.4(COL5A1):c.2285C>T (p.Pro762Leu) rs138259992
NM_000093.4(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_000093.4(COL5A1):c.2312C>G (p.Pro771Arg) rs1554797269
NM_000093.4(COL5A1):c.2318A>T (p.Glu773Val)
NM_000093.4(COL5A1):c.2321A>C (p.Lys774Thr) rs1564449370
NM_000093.4(COL5A1):c.2331+16G>A rs199654385
NM_000093.4(COL5A1):c.2331+4G>C
NM_000093.4(COL5A1):c.2331G>A (p.Gln777=)
NM_000093.4(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229
NM_000093.4(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_000093.4(COL5A1):c.2386-3C>G rs1564453831
NM_000093.4(COL5A1):c.2386-6G>A rs373383768
NM_000093.4(COL5A1):c.2386-7C>T rs746845504
NM_000093.4(COL5A1):c.2386-8C>A
NM_000093.4(COL5A1):c.2389delG rs1564453833
NM_000093.4(COL5A1):c.2390C>T (p.Ala797Val)
NM_000093.4(COL5A1):c.2398A>G (p.Ile800Val) rs146870918
NM_000093.4(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_000093.4(COL5A1):c.2415C>T (p.Gly805=) rs769239532
NM_000093.4(COL5A1):c.2425G>A (p.Glu809Lys) rs1032017865
NM_000093.4(COL5A1):c.2425G>T (p.Glu809Ter)
NM_000093.4(COL5A1):c.2430+1G>A rs1060502248
NM_000093.4(COL5A1):c.2431-7T>C rs1060504531
NM_000093.4(COL5A1):c.2439C>T (p.Asp813=) rs148648778
NM_000093.4(COL5A1):c.2451G>T (p.Gly817=) rs1554798928
NM_000093.4(COL5A1):c.2464A>G (p.Met822Val) rs1060502262
NM_000093.4(COL5A1):c.2482C>T (p.Arg828Trp) rs185912761
NM_000093.4(COL5A1):c.2484+1G>T rs1564455577
NM_000093.4(COL5A1):c.2484+6C>T rs576976549
NM_000093.4(COL5A1):c.2497C>T (p.Pro833Ser) rs370547479
NM_000093.4(COL5A1):c.2518G>C (p.Asp840His) rs1564457054
NM_000093.4(COL5A1):c.252C>T (p.Ser84=) rs151293601
NM_000093.4(COL5A1):c.2538G>A (p.Lys846=) rs751065864
NM_000093.4(COL5A1):c.2543G>A (p.Arg848His) rs767925708
NM_000093.4(COL5A1):c.2544C>A (p.Arg848=) rs201556585
NM_000093.4(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000093.4(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_000093.4(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264
NM_000093.4(COL5A1):c.2565del (p.Gly856fs) rs1564457102
NM_000093.4(COL5A1):c.256C>T (p.Pro86Ser) rs1277995091
NM_000093.4(COL5A1):c.2588A>T (p.Glu863Val) rs139788610
NM_000093.4(COL5A1):c.2647-9C>G rs757930358
NM_000093.4(COL5A1):c.2660del (p.Phe887fs)
NM_000093.4(COL5A1):c.266A>G (p.Gln89Arg) rs1554780187
NM_000093.4(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_000093.4(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491
NM_000093.4(COL5A1):c.2700+2T>C
NM_000093.4(COL5A1):c.2701-25T>G rs765079080
NM_000093.4(COL5A1):c.2708C>T (p.Pro903Leu) rs780406577
NM_000093.4(COL5A1):c.2723C>T (p.Pro908Leu) rs772211736
NM_000093.4(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_000093.4(COL5A1):c.2724G>C (p.Pro908=) rs41310207
NM_000093.4(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_000093.4(COL5A1):c.2744C>T (p.Thr915Met) rs771090557
NM_000093.4(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865
NM_000093.4(COL5A1):c.2751G>A (p.Pro917=) rs200319017
NM_000093.4(COL5A1):c.2754G>A (p.Arg918=) rs776715400
NM_000093.4(COL5A1):c.277+6T>G rs201910803
NM_000093.4(COL5A1):c.278C>G (p.Ala93Gly)
NM_000093.4(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_000093.4(COL5A1):c.2799+4T>C rs75815945
NM_000093.4(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_000093.4(COL5A1):c.2809G>A (p.Gly937Arg)
NM_000093.4(COL5A1):c.2812G>C (p.Gly938Arg) rs751950836
NM_000093.4(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874
NM_000093.4(COL5A1):c.2851A>C (p.Asn951His)
NM_000093.4(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966
NM_000093.4(COL5A1):c.2892C>T (p.Gly964=) rs78511105
NM_000093.4(COL5A1):c.2897del (p.Pro966fs) rs1179967153
NM_000093.4(COL5A1):c.28C>T (p.Arg10Cys) rs1457110544
NM_000093.4(COL5A1):c.2902C>G (p.Pro968Ala) rs1564466152
NM_000093.4(COL5A1):c.2905C>G (p.Pro969Ala)
NM_000093.4(COL5A1):c.292G>A (p.Glu98Lys) rs369126350
NM_000093.4(COL5A1):c.2931C>A (p.His977Gln) rs1564466171
NM_000093.4(COL5A1):c.2946C>T (p.Gly982=) rs1060502253
NM_000093.4(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246
NM_000093.4(COL5A1):c.2952+2_2952+3del
NM_000093.4(COL5A1):c.295G>T (p.Asp99Tyr) rs774095835
NM_000093.4(COL5A1):c.2971G>A (p.Gly991Ser) rs777368013
NM_000093.4(COL5A1):c.297_304dup (p.Ile102fs)
NM_000093.4(COL5A1):c.2983C>A (p.Pro995Thr) rs187022757
NM_000093.4(COL5A1):c.2983C>G (p.Pro995Ala) rs187022757
NM_000093.4(COL5A1):c.2988C>A (p.Pro996=)
NM_000093.4(COL5A1):c.2988del (p.Gly997fs) rs764693725
NM_000093.4(COL5A1):c.2988dup (p.Gly997fs) rs764693725
NM_000093.4(COL5A1):c.2991C>T (p.Gly997=) rs766208976
NM_000093.4(COL5A1):c.2997C>T (p.Val999=) rs201897490
NM_000093.4(COL5A1):c.3015G>T (p.Thr1005=) rs751265351
NM_000093.4(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010
NM_000093.4(COL5A1):c.3037G>A (p.Glu1013Lys) rs1060502249
NM_000093.4(COL5A1):c.3059C>T (p.Pro1020Leu) rs1001786208
NM_000093.4(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_000093.4(COL5A1):c.3082C>T (p.Leu1028Phe) rs762810181
NM_000093.4(COL5A1):c.3086C>T (p.Pro1029Leu)
NM_000093.4(COL5A1):c.3087G>A (p.Pro1029=) rs774035950
NM_000093.4(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609
NM_000093.4(COL5A1):c.3115-10C>T rs1018752469
NM_000093.4(COL5A1):c.3130G>A (p.Ala1044Thr)
NM_000093.4(COL5A1):c.315T>C (p.Thr105=) rs1232024630
NM_000093.4(COL5A1):c.3170G>A (p.Gly1057Asp) rs1554803568
NM_000093.4(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_000093.4(COL5A1):c.3185G>A (p.Arg1062Gln) rs771807198
NM_000093.4(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796
NM_000093.4(COL5A1):c.3204+3G>A rs202054108
NM_000093.4(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
NM_000093.4(COL5A1):c.3233G>A (p.Gly1078Glu) rs1554803631
NM_000093.4(COL5A1):c.3235C>T (p.Pro1079Ser)
NM_000093.4(COL5A1):c.3236C>T (p.Pro1079Leu) rs863223447
NM_000093.4(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707
NM_000093.4(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517
NM_000093.4(COL5A1):c.3259-8C>T rs146461106
NM_000093.4(COL5A1):c.3259_3366del (p.Ser1088_Gly1123del)
NM_000093.4(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.4(COL5A1):c.3263C>G (p.Ser1088Cys) rs1383949759
NM_000093.4(COL5A1):c.3291C>T (p.Ala1097=) rs371821655
NM_000093.4(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985
NM_000093.4(COL5A1):c.3299C>T (p.Pro1100Leu)
NM_000093.4(COL5A1):c.3303C>A (p.Ile1101=) rs760754491
NM_000093.4(COL5A1):c.3303C>T (p.Ile1101=) rs760754491
NM_000093.4(COL5A1):c.3309_3325dup (p.Pro1109fs) rs1564471440
NM_000093.4(COL5A1):c.3312A>G (p.Pro1104=) rs1554803839
NM_000093.4(COL5A1):c.3369C>T (p.Gly1123=) rs546229885
NM_000093.4(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.4(COL5A1):c.3398G>A (p.Arg1133Gln) rs759580799
NM_000093.4(COL5A1):c.3402C>T (p.Asp1134=) rs138251296
NM_000093.4(COL5A1):c.3418G>A (p.Val1140Met) rs149616140
NM_000093.4(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_000093.4(COL5A1):c.3421G>C (p.Gly1141Arg) rs1269224473
NM_000093.4(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206
NM_000093.4(COL5A1):c.343T>A (p.Phe115Ile) rs1564396163
NM_000093.4(COL5A1):c.3465C>T (p.Asp1155=) rs145134399
NM_000093.4(COL5A1):c.3474+7C>T rs550497696
NM_000093.4(COL5A1):c.3491C>T (p.Pro1164Leu)
NM_000093.4(COL5A1):c.34G>A (p.Ala12Thr) rs1160540030
NM_000093.4(COL5A1):c.3510G>A (p.Lys1170=) rs543950268
NM_000093.4(COL5A1):c.3529-1G>T
NM_000093.4(COL5A1):c.3551C>T (p.Pro1184Leu) rs749093832
NM_000093.4(COL5A1):c.3562A>G (p.Ile1188Val)
NM_000093.4(COL5A1):c.3564C>A (p.Ile1188=) rs766961124
NM_000093.4(COL5A1):c.3584_3585delinsAT (p.Gly1195Asp) rs1060502247
NM_000093.4(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_000093.4(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629
NM_000093.4(COL5A1):c.35C>A (p.Ala12Glu)
NM_000093.4(COL5A1):c.3656G>C (p.Gly1219Ala) rs1564475073
NM_000093.4(COL5A1):c.3667C>T (p.Pro1223Ser)
NM_000093.4(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_000093.4(COL5A1):c.3684del (p.Leu1229fs) rs1564475090
NM_000093.4(COL5A1):c.3690+6T>A rs375998368
NM_000093.4(COL5A1):c.3691-9T>C rs187584029
NM_000093.4(COL5A1):c.36G>A (p.Ala12=) rs1029930975
NM_000093.4(COL5A1):c.3732C>T (p.Asp1244=) rs377422775
NM_000093.4(COL5A1):c.3733G>A (p.Val1245Met) rs1435045393
NM_000093.4(COL5A1):c.3746delG rs35002351
NM_000093.4(COL5A1):c.3752del (p.Pro1251fs) rs786205100
NM_000093.4(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.4(COL5A1):c.3762del (p.Gly1255fs) rs1057518653
NM_000093.4(COL5A1):c.3770G>A (p.Arg1257Gln) rs141768094
NM_000093.4(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_000093.4(COL5A1):c.37C>T (p.Leu13Phe) rs762625123
NM_000093.4(COL5A1):c.3805C>T (p.Gln1269Ter) rs1554805142
NM_000093.4(COL5A1):c.3812C>G (p.Pro1271Arg) rs771146636
NM_000093.4(COL5A1):c.3812C>T (p.Pro1271Leu) rs771146636
NM_000093.4(COL5A1):c.3852+10G>A rs749190469
NM_000093.4(COL5A1):c.3852+9C>T rs548696863
NM_000093.4(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_000093.4(COL5A1):c.3864C>T (p.Gly1288=)
NM_000093.4(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451
NM_000093.4(COL5A1):c.3887C>T (p.Pro1296Leu)
NM_000093.4(COL5A1):c.3888G>A (p.Pro1296=) rs375631252
NM_000093.4(COL5A1):c.3905C>T (p.Pro1302Leu) rs201920777
NM_000093.4(COL5A1):c.3906+10C>T rs183881247
NM_000093.4(COL5A1):c.3906+3G>T rs786200922
NM_000093.4(COL5A1):c.3906+7G>A rs200333878
NM_000093.4(COL5A1):c.3911C>T (p.Pro1304Leu) rs1554805618
NM_000093.4(COL5A1):c.3916G>A (p.Gly1306Arg)
NM_000093.4(COL5A1):c.3921A>G (p.Glu1307=) rs1322220087
NM_000093.4(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676
NM_000093.4(COL5A1):c.3960C>T (p.Ala1320=) rs1057524173
NM_000093.4(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_000093.4(COL5A1):c.3987C>T (p.Pro1329=) rs770802769
NM_000093.4(COL5A1):c.3988G>A (p.Gly1330Arg) rs1060502254
NM_000093.4(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_000093.4(COL5A1):c.3999T>C (p.Gly1333=) rs1554805651
NM_000093.4(COL5A1):c.4039C>T (p.Pro1347Ser) rs769470285
NM_000093.4(COL5A1):c.4043G>C (p.Gly1348Ala) rs1060502252
NM_000093.4(COL5A1):c.4044C>T (p.Gly1348=) rs369945188
NM_000093.4(COL5A1):c.4050C>A (p.Pro1350=) rs773853291
NM_000093.4(COL5A1):c.4050C>T (p.Pro1350=) rs773853291
NM_000093.4(COL5A1):c.4065C>T (p.Pro1355=) rs61737906
NM_000093.4(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179
NM_000093.4(COL5A1):c.4067C>T (p.Ala1356Val) rs766796504
NM_000093.4(COL5A1):c.4068+7G>A rs587780905
NM_000093.4(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.4(COL5A1):c.4069-1G>T rs1564478485
NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_000093.4(COL5A1):c.409G>A (p.Val137Ile) rs145757313
NM_000093.4(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748
NM_000093.4(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_000093.4(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_000093.4(COL5A1):c.4144G>A (p.Glu1382Lys) rs1554806121
NM_000093.4(COL5A1):c.4158G>A (p.Ser1386=) rs1383677988
NM_000093.4(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942
NM_000093.4(COL5A1):c.4172A>G (p.Lys1391Arg) rs201801000
NM_000093.4(COL5A1):c.4175G>A (p.Arg1392Lys) rs863223479
NM_000093.4(COL5A1):c.417C>T (p.Leu139=) rs138687282
NM_000093.4(COL5A1):c.4188C>T (p.Gly1396=)
NM_000093.4(COL5A1):c.4192G>A (p.Ala1398Thr) rs759464073
NM_000093.4(COL5A1):c.4192G>T (p.Ala1398Ser) rs759464073
NM_000093.4(COL5A1):c.4200C>T (p.Pro1400=) rs752468183
NM_000093.4(COL5A1):c.4203del (p.Gly1402fs) rs1060502255
NM_000093.4(COL5A1):c.420C>T (p.Tyr140=) rs540553997
NM_000093.4(COL5A1):c.4212G>C (p.Gln1404His) rs1554806295
NM_000093.4(COL5A1):c.4230+5C>T rs142248898
NM_000093.4(COL5A1):c.4230+6G>A rs77176843
NM_000093.4(COL5A1):c.4231-9G>A rs570545638
NM_000093.4(COL5A1):c.4232delG rs1060502259
NM_000093.4(COL5A1):c.4238C>A (p.Ala1413Asp) rs1564480902
NM_000093.4(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663
NM_000093.4(COL5A1):c.4275C>G (p.Ile1425Met) rs767372665
NM_000093.4(COL5A1):c.4276G>A (p.Gly1426Ser) rs374868484
NM_000093.4(COL5A1):c.4297A>G (p.Lys1433Glu) rs1554806543
NM_000093.4(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702
NM_000093.4(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_000093.4(COL5A1):c.4326C>A (p.Ile1442=) rs942145911
NM_000093.4(COL5A1):c.4333C>T (p.Pro1445Ser)
NM_000093.4(COL5A1):c.4338+1G>A rs1564481053
NM_000093.4(COL5A1):c.4339-1delG rs786205102
NM_000093.4(COL5A1):c.4339-3C>G
NM_000093.4(COL5A1):c.4351C>A (p.Leu1451Ile) rs369740453
NM_000093.4(COL5A1):c.4358G>T (p.Gly1453Val)
NM_000093.4(COL5A1):c.4393-9C>T rs11792181
NM_000093.4(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_000093.4(COL5A1):c.4423G>C (p.Asp1475His) rs1554806674
NM_000093.4(COL5A1):c.4433C>T (p.Pro1478Leu) rs377062537
NM_000093.4(COL5A1):c.446C>T (p.Pro149Leu) rs369971694
NM_000093.4(COL5A1):c.460C>T (p.Leu154Phe) rs1554781521
NM_000093.4(COL5A1):c.484G>C (p.Asp162His) rs1564396342
NM_000093.4(COL5A1):c.491+3A>C rs1554781526
NM_000093.4(COL5A1):c.491+9G>A rs752150900
NM_000093.4(COL5A1):c.492-3C>T rs1027866868
NM_000093.4(COL5A1):c.494G>A (p.Trp165Ter)
NM_000093.4(COL5A1):c.502A>G (p.Ile168Val) rs112858705
NM_000093.4(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.4(COL5A1):c.515T>A (p.Val172Asp) rs1554781678
NM_000093.4(COL5A1):c.526A>C (p.Asn176His) rs369396868
NM_000093.4(COL5A1):c.528T>C (p.Asn176=) rs769674770
NM_000093.4(COL5A1):c.52C>T (p.Pro18Ser) rs1060502260
NM_000093.4(COL5A1):c.543C>T (p.Leu181=) rs368485498
NM_000093.4(COL5A1):c.548G>A (p.Cys183Tyr) rs1060502251
NM_000093.4(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_000093.4(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_000093.4(COL5A1):c.583G>A (p.Asp195Asn) rs781248560
NM_000093.4(COL5A1):c.597C>G (p.Ile199Met) rs147008954
NM_000093.4(COL5A1):c.598G>A (p.Asp200Asn) rs142890619
NM_000093.4(COL5A1):c.603C>T (p.Ile201=) rs747624923
NM_000093.4(COL5A1):c.610A>G (p.Ile204Val) rs1060502245
NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_000093.4(COL5A1):c.655-1917_690del
NM_000093.4(COL5A1):c.655-2A>G rs786205101
NM_000093.4(COL5A1):c.668A>G (p.Gln223Arg) rs1554787531
NM_000093.4(COL5A1):c.67_69CTG[5] (p.Leu28del) rs773994971
NM_000093.4(COL5A1):c.67_69CTG[7] (p.Leu28dup) rs773994971
NM_000093.4(COL5A1):c.680T>C (p.Val227Ala) rs376144196
NM_000093.4(COL5A1):c.683C>T (p.Ser228Leu) rs770737485
NM_000093.4(COL5A1):c.684G>A (p.Ser228=) rs139705205
NM_000093.4(COL5A1):c.692G>A (p.Arg231Gln)
NM_000093.4(COL5A1):c.710G>A (p.Cys237Tyr)
NM_000093.4(COL5A1):c.723C>T (p.Ser241=) rs1554787555
NM_000093.4(COL5A1):c.727G>A (p.Asp243Asn) rs758431206
NM_000093.4(COL5A1):c.735C>T (p.Asp245=) rs746769184
NM_000093.4(COL5A1):c.753C>A (p.Thr251=) rs374813957
NM_000093.4(COL5A1):c.753C>T (p.Thr251=) rs374813957
NM_000093.4(COL5A1):c.754C>T (p.Pro252Ser) rs369781295
NM_000093.4(COL5A1):c.761C>T (p.Ser254Leu) rs144844792
NM_000093.4(COL5A1):c.787-15G>A rs150200872
NM_000093.4(COL5A1):c.787-9C>G rs751472921
NM_000093.4(COL5A1):c.792G>A (p.Thr264=) rs757360763
NM_000093.4(COL5A1):c.792G>T (p.Thr264=) rs757360763
NM_000093.4(COL5A1):c.803G>T (p.Gly268Val) rs145552797
NM_000093.4(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_000093.4(COL5A1):c.850G>A (p.Glu284Lys) rs75648697
NM_000093.4(COL5A1):c.860G>A (p.Gly287Glu)
NM_000093.4(COL5A1):c.868C>T (p.Pro290Ser)
NM_000093.4(COL5A1):c.921C>T (p.Pro307=) rs144335980
NM_000093.4(COL5A1):c.922G>A (p.Glu308Lys) rs770173348
NM_000093.4(COL5A1):c.92C>A (p.Pro31Gln)
NM_000093.4(COL5A1):c.935C>T (p.Pro312Leu)
NM_000093.4(COL5A1):c.944C>T (p.Thr315Met) rs145093766
NM_000093.4(COL5A1):c.945G>A (p.Thr315=) rs149123775
NM_000093.4(COL5A1):c.983G>A (p.Gly328Glu) rs576742644
NM_000093.4(COL5A1):c.996C>T (p.Asp332=) rs144763302
NM_000093.4(COL5A1):c.999C>T (p.Val333=) rs138702819
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) rs1554803622
NM_001278074.1(COL5A1):c.3583-6dup rs773032514

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