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: 409
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HGVS dbSNP
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
NC_000009.12:g.134728628C>T
NC_000009.12:g.134730187A>G
NC_000009.12:g.134730193G>A
NC_000009.12:g.134731709T>C
NC_000009.12:g.134738722C>T
NC_000009.12:g.134753802T>C
NC_000009.12:g.134753816C>T
NC_000009.12:g.134763761C>T
NC_000009.12:g.134767390C>T
NC_000009.12:g.134785950G>A
NC_000009.12:g.134795060C>T
NC_000009.12:g.134796356dup
NC_000009.12:g.134796811A>G
NC_000009.12:g.134820071G>A
NC_000009.12:g.134825764T>C
NC_000009.12:g.134829854del
NM_000093.4(COL5A1):c.-110A>G rs180741151
NM_000093.4(COL5A1):c.-247T>G rs71483234
NM_000093.4(COL5A1):c.109+296A>G
NM_000093.4(COL5A1):c.109+37G>A
NM_000093.4(COL5A1):c.1092C>T (p.Pro364=) rs41306391
NM_000093.4(COL5A1):c.110-178G>A
NM_000093.4(COL5A1):c.110-271C>T
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.1163A>G (p.Asn388Ser) rs150837465
NM_000093.4(COL5A1):c.1164+134A>C
NM_000093.4(COL5A1):c.1164+87T>A
NM_000093.4(COL5A1):c.1164+94C>T
NM_000093.4(COL5A1):c.1165-149C>T
NM_000093.4(COL5A1):c.1165-39G>A
NM_000093.4(COL5A1):c.1183G>T (p.Glu395Ter) rs1554788339
NM_000093.4(COL5A1):c.1189G>A (p.Ala397Thr) rs762108965
NM_000093.4(COL5A1):c.1207G>T (p.Glu403Ter) rs886043641
NM_000093.4(COL5A1):c.1210T>C (p.Phe404Leu) rs1052185173
NM_000093.4(COL5A1):c.1222A>G (p.Thr408Ala)
NM_000093.4(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.1263C>T (p.Tyr421=) rs373846823
NM_000093.4(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962
NM_000093.4(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010
NM_000093.4(COL5A1):c.1332+1G>T rs1064796684
NM_000093.4(COL5A1):c.1332+92C>G rs3124310
NM_000093.4(COL5A1):c.1345C>T (p.Arg449Trp) rs374020067
NM_000093.4(COL5A1):c.1351G>A (p.Glu451Lys) rs755546104
NM_000093.4(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_000093.4(COL5A1):c.1389+139G>A
NM_000093.4(COL5A1):c.1389G>A (p.Pro463=) rs1057518771
NM_000093.4(COL5A1):c.1390-259G>A
NM_000093.4(COL5A1):c.1390-277C>T
NM_000093.4(COL5A1):c.1390-305C>T
NM_000093.4(COL5A1):c.1429G>A (p.Ala477Thr) rs774936702
NM_000093.4(COL5A1):c.1431G>A (p.Ala477=) rs61729545
NM_000093.4(COL5A1):c.1432-5T>C rs3128612
NM_000093.4(COL5A1):c.145C>T (p.His49Tyr) rs372168541
NM_000093.4(COL5A1):c.1465A>G (p.Thr489Ala) rs863223468
NM_000093.4(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_000093.4(COL5A1):c.1502del (p.Pro501fs) rs1085307855
NM_000093.4(COL5A1):c.1503del (p.Gly502fs) rs1554792011
NM_000093.4(COL5A1):c.1507C>T (p.Arg503Cys) rs781485753
NM_000093.4(COL5A1):c.1528G>A (p.Asp510Asn) rs374204025
NM_000093.4(COL5A1):c.1535T>C (p.Leu512Pro) rs863223442
NM_000093.4(COL5A1):c.1561A>G (p.Met521Val) rs535161301
NM_000093.4(COL5A1):c.1570-59T>C rs12686426
NM_000093.4(COL5A1):c.1574G>A (p.Arg525Gln) rs375762619
NM_000093.4(COL5A1):c.157G>C (p.Asp53His) rs763026096
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
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.1662+252G>A
NM_000093.4(COL5A1):c.1663-1G>C rs794727114
NM_000093.4(COL5A1):c.1688C>T (p.Pro563Leu) rs753260027
NM_000093.4(COL5A1):c.170A>G (p.Lys57Arg) rs1131691360
NM_000093.4(COL5A1):c.1720-111G>A
NM_000093.4(COL5A1):c.1720-11T>A rs863223444
NM_000093.4(COL5A1):c.1720-157C>T
NM_000093.4(COL5A1):c.1720-158C>G
NM_000093.4(COL5A1):c.1726C>T (p.Pro576Ser) rs763246328
NM_000093.4(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_000093.4(COL5A1):c.1773+130C>T
NM_000093.4(COL5A1):c.1774-73A>G
NM_000093.4(COL5A1):c.1787T>C (p.Val596Ala) rs754773665
NM_000093.4(COL5A1):c.1805C>T (p.Pro602Leu) rs749007253
NM_000093.4(COL5A1):c.1827+295A>G
NM_000093.4(COL5A1):c.1827+94G>T
NM_000093.4(COL5A1):c.1828-170C>T
NM_000093.4(COL5A1):c.1828-297T>C
NM_000093.4(COL5A1):c.1840A>C (p.Ser614Arg) rs863223477
NM_000093.4(COL5A1):c.1881+173G>A
NM_000093.4(COL5A1):c.1881+292G>A
NM_000093.4(COL5A1):c.1882-133A>G
NM_000093.4(COL5A1):c.1882-256C>T
NM_000093.4(COL5A1):c.1882-272C>T
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.191C>T (p.Thr64Met) rs777376620
NM_000093.4(COL5A1):c.1935+127G>C
NM_000093.4(COL5A1):c.1935+133A>T
NM_000093.4(COL5A1):c.1936-170G>A
NM_000093.4(COL5A1):c.1936-299C>T
NM_000093.4(COL5A1):c.1989+279T>C
NM_000093.4(COL5A1):c.1990-219G>A
NM_000093.4(COL5A1):c.2032C>T (p.Pro678Ser) rs756190610
NM_000093.4(COL5A1):c.2034+1G>A rs886042173
NM_000093.4(COL5A1):c.2034+256C>T
NM_000093.4(COL5A1):c.2038C>T (p.Pro680Ser) rs376920171
NM_000093.4(COL5A1):c.2044G>A (p.Gly682Ser)
NM_000093.4(COL5A1):c.2088+227G>A
NM_000093.4(COL5A1):c.2089-288C>T
NM_000093.4(COL5A1):c.2089-8G>A rs368595229
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.212C>T (p.Pro71Leu) rs779540528
NM_000093.4(COL5A1):c.2133+73G>A
NM_000093.4(COL5A1):c.2134-116T>C
NM_000093.4(COL5A1):c.2134-238A>G
NM_000093.4(COL5A1):c.2140C>T (p.Gln714Ter) rs1554796176
NM_000093.4(COL5A1):c.2159dup (p.Gly721fs) rs863223469
NM_000093.4(COL5A1):c.2162dup (p.Gln722fs) rs863223470
NM_000093.4(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655
NM_000093.4(COL5A1):c.2181C>T (p.Gly727=)
NM_000093.4(COL5A1):c.2187+101C>T
NM_000093.4(COL5A1):c.2196A>G (p.Pro732=)
NM_000093.4(COL5A1):c.2233-62G>T
NM_000093.4(COL5A1):c.2253C>T (p.Gly751=)
NM_000093.4(COL5A1):c.2281C>T (p.Pro761Ser) rs140486644
NM_000093.4(COL5A1):c.2285C>T (p.Pro762Leu) rs138259992
NM_000093.4(COL5A1):c.2286+146T>C
NM_000093.4(COL5A1):c.2286+223G>C
NM_000093.4(COL5A1):c.2286+66A>G
NM_000093.4(COL5A1):c.2287-180G>A
NM_000093.4(COL5A1):c.2287-260T>G
NM_000093.4(COL5A1):c.2331+11G>A
NM_000093.4(COL5A1):c.2331+191G>C
NM_000093.4(COL5A1):c.2332-177G>A
NM_000093.4(COL5A1):c.2332-20C>T
NM_000093.4(COL5A1):c.2332-291G>A
NM_000093.4(COL5A1):c.2347_2348insT (p.Gln783fs) rs863223471
NM_000093.4(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229
NM_000093.4(COL5A1):c.2382C>T (p.Val794=) rs758190171
NM_000093.4(COL5A1):c.2385+15C>T
NM_000093.4(COL5A1):c.2385+250G>T
NM_000093.4(COL5A1):c.2385G>A (p.Lys795=) rs1554797638
NM_000093.4(COL5A1):c.2424C>T (p.Gly808=) rs139343205
NM_000093.4(COL5A1):c.2430+196C>T
NM_000093.4(COL5A1):c.2430+20C>T rs3124932
NM_000093.4(COL5A1):c.2430+290A>G
NM_000093.4(COL5A1):c.2430+4A>C
NM_000093.4(COL5A1):c.2431-25G>A rs41310213
NM_000093.4(COL5A1):c.2431-289C>G
NM_000093.4(COL5A1):c.2431-295_2431-294del
NM_000093.4(COL5A1):c.2431-57C>T
NM_000093.4(COL5A1):c.2434G>A (p.Glu812Lys) rs1554798924
NM_000093.4(COL5A1):c.2483G>A (p.Arg828Gln) rs781317910
NM_000093.4(COL5A1):c.2484+118G>A
NM_000093.4(COL5A1):c.2484+14G>A
NM_000093.4(COL5A1):c.2485-146T>C
NM_000093.4(COL5A1):c.2485-147G>C
NM_000093.4(COL5A1):c.2485-160C>T
NM_000093.4(COL5A1):c.2485-183T>A
NM_000093.4(COL5A1):c.2485-191C>A
NM_000093.4(COL5A1):c.2485-199G>A
NM_000093.4(COL5A1):c.2485-201C>T
NM_000093.4(COL5A1):c.2485-34_2485-33insGGCA
NM_000093.4(COL5A1):c.2485-39_2485-38insT
NM_000093.4(COL5A1):c.2485-39_2485-38insTGT
NM_000093.4(COL5A1):c.2485-90T>C
NM_000093.4(COL5A1):c.2524C>A (p.Pro842Thr)
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.2592+209T>C
NM_000093.4(COL5A1):c.2592+288C>T
NM_000093.4(COL5A1):c.2592+293A>G
NM_000093.4(COL5A1):c.2592+298G>A
NM_000093.4(COL5A1):c.2592+314C>T
NM_000093.4(COL5A1):c.2593-253A>C
NM_000093.4(COL5A1):c.2593-3C>T rs199895142
NM_000093.4(COL5A1):c.2646+144T>C
NM_000093.4(COL5A1):c.2646+216G>A
NM_000093.4(COL5A1):c.2646+287G>A
NM_000093.4(COL5A1):c.2646+91C>T
NM_000093.4(COL5A1):c.2647-250C>T
NM_000093.4(COL5A1):c.2701-103C>A
NM_000093.4(COL5A1):c.2701-186T>C
NM_000093.4(COL5A1):c.2701-301G>A
NM_000093.4(COL5A1):c.2708C>T (p.Pro903Leu) rs780406577
NM_000093.4(COL5A1):c.2709T>C (p.Pro903=) rs749844592
NM_000093.4(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_000093.4(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_000093.4(COL5A1):c.273C>A (p.Tyr91Ter) rs1341789008
NM_000093.4(COL5A1):c.2745+15A>T rs79481146
NM_000093.4(COL5A1):c.2745+66A>G
NM_000093.4(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865
NM_000093.4(COL5A1):c.2765G>T (p.Gly922Val) rs1564463870
NM_000093.4(COL5A1):c.277+146G>A
NM_000093.4(COL5A1):c.278-224T>C
NM_000093.4(COL5A1):c.278-50T>C
NM_000093.4(COL5A1):c.2784del (p.Lys929fs) rs863223472
NM_000093.4(COL5A1):c.2799+153C>T
NM_000093.4(COL5A1):c.2799+22C>T
NM_000093.4(COL5A1):c.2799+33G>A
NM_000093.4(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_000093.4(COL5A1):c.2800-172T>C
NM_000093.4(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874
NM_000093.4(COL5A1):c.2844+163T>G
NM_000093.4(COL5A1):c.2844+41G>T
NM_000093.4(COL5A1):c.2845-117A>G
NM_000093.4(COL5A1):c.2845-11T>C
NM_000093.4(COL5A1):c.2845-70A>G
NM_000093.4(COL5A1):c.2845-90G>A
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.2894C>T (p.Pro965Leu) rs376435205
NM_000093.4(COL5A1):c.2898+114C>T
NM_000093.4(COL5A1):c.2898+116G>A
NM_000093.4(COL5A1):c.2898+287TC[3]
NM_000093.4(COL5A1):c.2899-261G>A
NM_000093.4(COL5A1):c.2899-273C>T
NM_000093.4(COL5A1):c.2899-318A>G
NM_000093.4(COL5A1):c.2899-72G>A
NM_000093.4(COL5A1):c.292G>A (p.Glu98Lys) rs369126350
NM_000093.4(COL5A1):c.292G>T (p.Glu98Ter) rs369126350
NM_000093.4(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246
NM_000093.4(COL5A1):c.2952+11A>T rs4240707
NM_000093.4(COL5A1):c.2953-235AG[3]
NM_000093.4(COL5A1):c.2953-301G>C
NM_000093.4(COL5A1):c.2983C>A (p.Pro995Thr) rs187022757
NM_000093.4(COL5A1):c.2989G>A (p.Gly997Ser) rs863223445
NM_000093.4(COL5A1):c.298T>G (p.Phe100Val) rs761639579
NM_000093.4(COL5A1):c.3007-36C>G
NM_000093.4(COL5A1):c.3007-96G>A
NM_000093.4(COL5A1):c.3013A>G (p.Thr1005Ala) rs863223446
NM_000093.4(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010
NM_000093.4(COL5A1):c.3055C>T (p.Pro1019Ser)
NM_000093.4(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_000093.4(COL5A1):c.3069dup (p.Gly1024fs) rs863223473
NM_000093.4(COL5A1):c.309_311AAC[1] (p.Thr105del) rs863223476
NM_000093.4(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609
NM_000093.4(COL5A1):c.3115-108C>T
NM_000093.4(COL5A1):c.3115-67G>A
NM_000093.4(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_000093.4(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796
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.3254C>T (p.Pro1085Leu)
NM_000093.4(COL5A1):c.3258+150A>G
NM_000093.4(COL5A1):c.3258+258T>C
NM_000093.4(COL5A1):c.3258G>A (p.Ala1086=) rs372844807
NM_000093.4(COL5A1):c.3259-22C>T
NM_000093.4(COL5A1):c.3259-99A>T
NM_000093.4(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.4(COL5A1):c.3341G>C (p.Gly1114Ala) rs926426117
NM_000093.4(COL5A1):c.3344C>T (p.Pro1115Leu) rs139039658
NM_000093.4(COL5A1):c.3350G>C (p.Gly1117Ala) rs863223448
NM_000093.4(COL5A1):c.3361G>C (p.Ala1121Pro) rs863223449
NM_000093.4(COL5A1):c.3366+245C>A
NM_000093.4(COL5A1):c.3367-280T>G
NM_000093.4(COL5A1):c.3367-281C>T
NM_000093.4(COL5A1):c.3367-86C>T
NM_000093.4(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.4(COL5A1):c.3402C>T (p.Asp1134=) rs138251296
NM_000093.4(COL5A1):c.3403G>A (p.Gly1135Ser) rs775559638
NM_000093.4(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_000093.4(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206
NM_000093.4(COL5A1):c.3465C>T (p.Asp1155=) rs145134399
NM_000093.4(COL5A1):c.3474+255G>A
NM_000093.4(COL5A1):c.3474+64G>A
NM_000093.4(COL5A1):c.3475-299A>G
NM_000093.4(COL5A1):c.3528+295T>C
NM_000093.4(COL5A1):c.3529-172G>A
NM_000093.4(COL5A1):c.3545C>T (p.Thr1182Ile) rs1057524867
NM_000093.4(COL5A1):c.3551C>T (p.Pro1184Leu) rs749093832
NM_000093.4(COL5A1):c.3582+4A>C rs1064796967
NM_000093.4(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079
NM_000093.4(COL5A1):c.3622C>T (p.Leu1208Phe) rs863223450
NM_000093.4(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_000093.4(COL5A1):c.3720T>C (p.Gly1240=) rs1554805072
NM_000093.4(COL5A1):c.3726_3732del (p.Gly1243fs) rs1554805076
NM_000093.4(COL5A1):c.3744+39C>T
NM_000093.4(COL5A1):c.3745-18G>A rs45556931
NM_000093.4(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.4(COL5A1):c.3764G>A (p.Gly1255Asp) rs1064796975
NM_000093.4(COL5A1):c.3770G>A (p.Arg1257Gln) rs141768094
NM_000093.4(COL5A1):c.3781G>A (p.Gly1261Arg) rs772445337
NM_000093.4(COL5A1):c.3788C>T (p.Pro1263Leu) rs140244245
NM_000093.4(COL5A1):c.3815C>A (p.Pro1272Gln) rs369684394
NM_000093.4(COL5A1):c.3815C>T (p.Pro1272Leu) rs369684394
NM_000093.4(COL5A1):c.383T>C (p.Ile128Thr) rs863223464
NM_000093.4(COL5A1):c.3852+181A>G
NM_000093.4(COL5A1):c.3853-125C>A
NM_000093.4(COL5A1):c.3853-50G>A
NM_000093.4(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_000093.4(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451
NM_000093.4(COL5A1):c.3870A>G (p.Ala1290=)
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+34A>G
NM_000093.4(COL5A1):c.3906+3G>T rs786200922
NM_000093.4(COL5A1):c.3907-258A>G
NM_000093.4(COL5A1):c.3936C>T (p.Gly1312=) rs367804791
NM_000093.4(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_000093.4(COL5A1):c.4014+209A>G
NM_000093.4(COL5A1):c.4015-212C>T
NM_000093.4(COL5A1):c.4015-30C>T
NM_000093.4(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000093.4(COL5A1):c.4067C>T (p.Ala1356Val) rs766796504
NM_000093.4(COL5A1):c.4068+11A>G
NM_000093.4(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.4(COL5A1):c.409G>T (p.Val137Phe)
NM_000093.4(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748
NM_000093.4(COL5A1):c.4122+287G>A
NM_000093.4(COL5A1):c.4122+97C>A
NM_000093.4(COL5A1):c.4122G>A (p.Thr1374=) rs3827848
NM_000093.4(COL5A1):c.4123-302C>G
NM_000093.4(COL5A1):c.4123-303C>A
NM_000093.4(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_000093.4(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
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.4176+257C>G
NM_000093.4(COL5A1):c.4176+3A>T rs1554806134
NM_000093.4(COL5A1):c.4176+9T>G rs10858282
NM_000093.4(COL5A1):c.4177-151G>T
NM_000093.4(COL5A1):c.4184del (p.Pro1395fs) rs794727760
NM_000093.4(COL5A1):c.4230G>C (p.Lys1410Asn) rs863223453
NM_000093.4(COL5A1):c.4231-183G>A
NM_000093.4(COL5A1):c.4231-228G>A
NM_000093.4(COL5A1):c.4234G>A (p.Glu1412Lys) rs376893441
NM_000093.4(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663
NM_000093.4(COL5A1):c.4241G>C (p.Gly1414Ala) rs556167410
NM_000093.4(COL5A1):c.427C>A (p.His143Asn) rs863223465
NM_000093.4(COL5A1):c.4282C>T (p.Gln1428Ter) rs863223454
NM_000093.4(COL5A1):c.4283del (p.Gln1428fs) rs863223474
NM_000093.4(COL5A1):c.4288G>A (p.Ala1430Thr) rs863223455
NM_000093.4(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702
NM_000093.4(COL5A1):c.4319G>A (p.Arg1440Gln)
NM_000093.4(COL5A1):c.4366G>A (p.Gly1456Ser) rs1564481153
NM_000093.4(COL5A1):c.4367G>T (p.Gly1456Val) rs1564481157
NM_000093.4(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250
NM_000093.4(COL5A1):c.4378C>A (p.Pro1460Thr) rs773125713
NM_000093.4(COL5A1):c.4392+4A>C rs863223456
NM_000093.4(COL5A1):c.4392+5G>A rs886043312
NM_000093.4(COL5A1):c.4402G>A (p.Gly1468Arg) rs1554806670
NM_000093.4(COL5A1):c.4446+134A>C
NM_000093.4(COL5A1):c.458C>T (p.Pro153Leu) rs771925785
NM_000093.4(COL5A1):c.467G>A (p.Arg156Gln) rs770896795
NM_000093.4(COL5A1):c.491+271C>T
NM_000093.4(COL5A1):c.491+92C>T
NM_000093.4(COL5A1):c.492-16A>G
NM_000093.4(COL5A1):c.492-280C>T
NM_000093.4(COL5A1):c.492-56T>C
NM_000093.4(COL5A1):c.492-76C>G
NM_000093.4(COL5A1):c.497A>G (p.His166Arg) rs1057524357
NM_000093.4(COL5A1):c.514G>A (p.Val172Ile) rs150147262
NM_000093.4(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.4(COL5A1):c.526A>C (p.Asn176His) rs369396868
NM_000093.4(COL5A1):c.52C>T (p.Pro18Ser) rs1060502260
NM_000093.4(COL5A1):c.558G>A (p.Lys186=) rs1564397188
NM_000093.4(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_000093.4(COL5A1):c.654+105G>A
NM_000093.4(COL5A1):c.654+213C>T
NM_000093.4(COL5A1):c.654+73G>A
NM_000093.4(COL5A1):c.655-106G>A
NM_000093.4(COL5A1):c.655-142G>A
NM_000093.4(COL5A1):c.655-320G>A
NM_000093.4(COL5A1):c.65C>A (p.Pro22Gln) rs863223467
NM_000093.4(COL5A1):c.65C>G (p.Pro22Arg) rs863223467
NM_000093.4(COL5A1):c.660C>G (p.Asp220Glu) rs570691491
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.691C>T (p.Arg231Trp) rs775853003
NM_000093.4(COL5A1):c.6C>G (p.Asp2Glu) rs1064796482
NM_000093.4(COL5A1):c.727G>A (p.Asp243Asn) rs758431206
NM_000093.4(COL5A1):c.730_731TG[1] (p.Cys244_Asp245delinsTer) rs1554787557
NM_000093.4(COL5A1):c.738C>T (p.Thr246=) rs3124299
NM_000093.4(COL5A1):c.739G>A (p.Ala247Thr) rs769115550
NM_000093.4(COL5A1):c.754C>T (p.Pro252Ser) rs369781295
NM_000093.4(COL5A1):c.786+182T>G
NM_000093.4(COL5A1):c.786+271G>C
NM_000093.4(COL5A1):c.787-15G>A rs150200872
NM_000093.4(COL5A1):c.787-180G>A
NM_000093.4(COL5A1):c.787-181C>T
NM_000093.4(COL5A1):c.787-8G>A
NM_000093.4(COL5A1):c.787-99G>A
NM_000093.4(COL5A1):c.802G>A (p.Gly268Ser) rs748603743
NM_000093.4(COL5A1):c.804C>T (p.Gly268=) rs147729713
NM_000093.4(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_000093.4(COL5A1):c.849C>T (p.Pro283=)
NM_000093.4(COL5A1):c.850G>A (p.Glu284Lys) rs75648697
NM_000093.4(COL5A1):c.888C>T (p.Pro296=)
NM_000093.4(COL5A1):c.904G>T (p.Glu302Ter) rs1554787811
NM_000093.4(COL5A1):c.921C>T (p.Pro307=) rs144335980
NM_000093.4(COL5A1):c.924+148G>C
NM_000093.4(COL5A1):c.924+194A>C
NM_000093.4(COL5A1):c.924+297C>A
NM_000093.4(COL5A1):c.924+35C>A
NM_000093.4(COL5A1):c.925-180C>T
NM_000093.4(COL5A1):c.925-63C>T
NM_000093.4(COL5A1):c.944C>T (p.Thr315Met) rs145093766
NM_000093.4(COL5A1):c.94C>T (p.Pro32Ser) rs886042620
NM_000093.4(COL5A1):c.962C>T (p.Pro321Leu) rs1085307805
NM_000093.4(COL5A1):c.964G>A (p.Glu322Lys) rs199857770
NM_000093.4(COL5A1):c.977G>A (p.Gly326Glu) rs748152732
NM_000093.4(COL5A1):c.987G>A (p.Lys329=)

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