ClinVar Miner

List of variants in gene COL5A1 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 390
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HGVS dbSNP
NC_000009.12:g.134796356dup
NM_000093.4(COL5A1):c.-110A>G rs180741151
NM_000093.4(COL5A1):c.-14C>T rs1334351036
NM_000093.4(COL5A1):c.-17G>A rs1554772552
NM_000093.4(COL5A1):c.-28_-7del rs1554772545
NM_000093.4(COL5A1):c.-33G>T rs1057523091
NM_000093.4(COL5A1):c.-382C>G rs555826102
NM_000093.4(COL5A1):c.-4C>G rs769694875
NM_000093.4(COL5A1):c.1044G>A (p.Thr348=) rs1246095864
NM_000093.4(COL5A1):c.1044G>T (p.Thr348=) rs1246095864
NM_000093.4(COL5A1):c.1053G>A (p.Pro351=) rs370018361
NM_000093.4(COL5A1):c.1062C>T (p.Asp354=) rs61737708
NM_000093.4(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_000093.4(COL5A1):c.109+296A>G
NM_000093.4(COL5A1):c.110-10G>A rs746555918
NM_000093.4(COL5A1):c.110-19T>C rs148294644
NM_000093.4(COL5A1):c.1119G>A (p.Gly373=) rs1060504528
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.1164+94C>T
NM_000093.4(COL5A1):c.1165-8C>T rs770303209
NM_000093.4(COL5A1):c.1197C>T (p.Asp399=) rs1024770210
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.1263C>T (p.Tyr421=) rs373846823
NM_000093.4(COL5A1):c.1270A>G (p.Thr424Ala) rs535363331
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.12T>C (p.His4=) rs368818087
NM_000093.4(COL5A1):c.1308G>A (p.Ala436=) rs200959477
NM_000093.4(COL5A1):c.1332+20C>T rs935688642
NM_000093.4(COL5A1):c.1333-8A>G rs145620416
NM_000093.4(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_000093.4(COL5A1):c.1368A>G (p.Gly456=) rs1554788483
NM_000093.4(COL5A1):c.1389+139G>A
NM_000093.4(COL5A1):c.1390-277C>T
NM_000093.4(COL5A1):c.1390-4C>T rs1382134438
NM_000093.4(COL5A1):c.1401C>T (p.Ile467=) rs1452745305
NM_000093.4(COL5A1):c.1410G>A (p.Pro470=) rs148389741
NM_000093.4(COL5A1):c.1410G>C (p.Pro470=) rs148389741
NM_000093.4(COL5A1):c.1431+10C>T rs1176378428
NM_000093.4(COL5A1):c.1431+11G>A rs768116740
NM_000093.4(COL5A1):c.1432-18C>T rs761261485
NM_000093.4(COL5A1):c.1440C>T (p.Pro480=) rs150940930
NM_000093.4(COL5A1):c.1527C>T (p.Ala509=) rs746510456
NM_000093.4(COL5A1):c.1539C>T (p.Pro513=) rs151173863
NM_000093.4(COL5A1):c.1566G>A (p.Leu522=) rs61737941
NM_000093.4(COL5A1):c.1569+15C>T rs62574081
NM_000093.4(COL5A1):c.1569+3G>A rs886038232
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.1674G>A (p.Arg558=) rs746502968
NM_000093.4(COL5A1):c.1701A>C (p.Thr567=) rs143647239
NM_000093.4(COL5A1):c.1719+10T>C rs202231659
NM_000093.4(COL5A1):c.1719+8A>T rs747192480
NM_000093.4(COL5A1):c.1720-3T>C rs960627780
NM_000093.4(COL5A1):c.1734C>T (p.Ser578=) rs148094039
NM_000093.4(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_000093.4(COL5A1):c.1773+130C>T
NM_000093.4(COL5A1):c.1774-16C>T rs755041858
NM_000093.4(COL5A1):c.1774-7C>A rs371941850
NM_000093.4(COL5A1):c.1794C>G (p.Gly598=) rs370565229
NM_000093.4(COL5A1):c.1797G>A (p.Pro599=) rs201463583
NM_000093.4(COL5A1):c.1809C>T (p.Ala603=) rs371345820
NM_000093.4(COL5A1):c.1818C>T (p.Pro606=) rs761257919
NM_000093.4(COL5A1):c.1827+16G>A rs745897562
NM_000093.4(COL5A1):c.1827+94G>T
NM_000093.4(COL5A1):c.186C>T (p.Cys62=) rs778516121
NM_000093.4(COL5A1):c.1881+13C>T rs753635328
NM_000093.4(COL5A1):c.1881+173G>A
NM_000093.4(COL5A1):c.1882-272C>T
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.1935+8T>G rs79195626
NM_000093.4(COL5A1):c.1936-10C>T rs779506561
NM_000093.4(COL5A1):c.1936-15C>G rs755787951
NM_000093.4(COL5A1):c.1936-16C>G rs199694949
NM_000093.4(COL5A1):c.1936-170G>A
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.2022G>C (p.Leu674=) rs552160454
NM_000093.4(COL5A1):c.2034+18G>C rs200055343
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.2079C>T (p.Pro693=) rs186098435
NM_000093.4(COL5A1):c.2088C>T (p.Pro696=) rs146757272
NM_000093.4(COL5A1):c.2089-8G>A rs368595229
NM_000093.4(COL5A1):c.210C>T (p.Gly70=) rs1161786135
NM_000093.4(COL5A1):c.2133+73G>A
NM_000093.4(COL5A1):c.2134-11G>C rs369317619
NM_000093.4(COL5A1):c.2181C>A (p.Gly727=) rs201298716
NM_000093.4(COL5A1):c.2181C>T (p.Gly727=)
NM_000093.4(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171
NM_000093.4(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_000093.4(COL5A1):c.2187+101C>T
NM_000093.4(COL5A1):c.2187+10C>T rs1057521575
NM_000093.4(COL5A1):c.2196A>G (p.Pro732=)
NM_000093.4(COL5A1):c.219C>T (p.Val73=) rs774691915
NM_000093.4(COL5A1):c.2238C>T (p.Pro746=) rs373617798
NM_000093.4(COL5A1):c.2253C>T (p.Gly751=)
NM_000093.4(COL5A1):c.2268C>T (p.Pro756=) rs367755808
NM_000093.4(COL5A1):c.2286+223G>C
NM_000093.4(COL5A1):c.2287-180G>A
NM_000093.4(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_000093.4(COL5A1):c.231C>T (p.Val77=) rs767430471
NM_000093.4(COL5A1):c.2331+11G>A
NM_000093.4(COL5A1):c.2331+15C>T rs369093559
NM_000093.4(COL5A1):c.2332-177G>A
NM_000093.4(COL5A1):c.2332-20C>T
NM_000093.4(COL5A1):c.2332-9T>G rs1554797620
NM_000093.4(COL5A1):c.233C>T (p.Thr78Ile) rs555131723
NM_000093.4(COL5A1):c.2385+15C>T
NM_000093.4(COL5A1):c.2386-6G>A rs373383768
NM_000093.4(COL5A1):c.2386-9C>T rs1057523879
NM_000093.4(COL5A1):c.2391C>T (p.Ala797=) rs142347159
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.2430+4A>C
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.2431-7T>C rs1060504531
NM_000093.4(COL5A1):c.2433T>C (p.Gly811=) rs1554798918
NM_000093.4(COL5A1):c.2451G>T (p.Gly817=) rs1554798928
NM_000093.4(COL5A1):c.2482C>T (p.Arg828Trp) rs185912761
NM_000093.4(COL5A1):c.2484+14G>A
NM_000093.4(COL5A1):c.2484+6C>T rs576976549
NM_000093.4(COL5A1):c.2485-18C>T rs757531928
NM_000093.4(COL5A1):c.2485-199G>A
NM_000093.4(COL5A1):c.2485-201C>T
NM_000093.4(COL5A1):c.2485-90T>C
NM_000093.4(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_000093.4(COL5A1):c.2526T>C (p.Pro842=) rs763634004
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.2544C>A (p.Arg848=) rs201556585
NM_000093.4(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264
NM_000093.4(COL5A1):c.2580C>A (p.Pro860=) rs762553184
NM_000093.4(COL5A1):c.2588A>T (p.Glu863Val) rs139788610
NM_000093.4(COL5A1):c.2592+16C>T rs145429817
NM_000093.4(COL5A1):c.2592+17G>A rs750947144
NM_000093.4(COL5A1):c.2592+314C>T
NM_000093.4(COL5A1):c.2593-15T>C rs747677530
NM_000093.4(COL5A1):c.2593-3C>T rs199895142
NM_000093.4(COL5A1):c.2646+14G>A rs200583777
NM_000093.4(COL5A1):c.2646+216G>A
NM_000093.4(COL5A1):c.2646+91C>T
NM_000093.4(COL5A1):c.2647-250C>T
NM_000093.4(COL5A1):c.2647-9C>G rs757930358
NM_000093.4(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_000093.4(COL5A1):c.2676C>T (p.Gly892=) rs143161140
NM_000093.4(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491
NM_000093.4(COL5A1):c.2700+16C>T rs371771646
NM_000093.4(COL5A1):c.2701-12C>G rs751422216
NM_000093.4(COL5A1):c.2701-14T>C rs1554801400
NM_000093.4(COL5A1):c.2724G>C (p.Pro908=) rs41310207
NM_000093.4(COL5A1):c.2745+15A>T rs79481146
NM_000093.4(COL5A1):c.2746-12C>G rs1554801436
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+146G>A
NM_000093.4(COL5A1):c.277+20G>C rs772363522
NM_000093.4(COL5A1):c.278-4C>A rs1057522143
NM_000093.4(COL5A1):c.278-50T>C
NM_000093.4(COL5A1):c.2799+33G>A
NM_000093.4(COL5A1):c.2799+4T>C rs75815945
NM_000093.4(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_000093.4(COL5A1):c.2800-18C>T rs73664144
NM_000093.4(COL5A1):c.2817C>T (p.Asp939=) rs750716466
NM_000093.4(COL5A1):c.2844+20G>A rs200916696
NM_000093.4(COL5A1):c.2845-11T>C
NM_000093.4(COL5A1):c.2845-15T>C rs886038233
NM_000093.4(COL5A1):c.2845-17C>A rs368737278
NM_000093.4(COL5A1):c.2845-90G>A
NM_000093.4(COL5A1):c.2883A>G (p.Gly961=) rs1244102860
NM_000093.4(COL5A1):c.2898+114C>T
NM_000093.4(COL5A1):c.2898+20C>T rs781174331
NM_000093.4(COL5A1):c.2899-13G>T rs761096695
NM_000093.4(COL5A1):c.2899-72G>A
NM_000093.4(COL5A1):c.2953-301G>C
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.3006+17C>T rs140528268
NM_000093.4(COL5A1):c.3007-18C>G rs775358866
NM_000093.4(COL5A1):c.3007-19A>G rs370503113
NM_000093.4(COL5A1):c.3007-96G>A
NM_000093.4(COL5A1):c.3015G>T (p.Thr1005=) rs751265351
NM_000093.4(COL5A1):c.3054G>A (p.Gly1018=) rs369163868
NM_000093.4(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_000093.4(COL5A1):c.3087G>A (p.Pro1029=) rs774035950
NM_000093.4(COL5A1):c.3096T>A (p.Ala1032=) rs140590510
NM_000093.4(COL5A1):c.3114+10T>C rs1057523401
NM_000093.4(COL5A1):c.3114+12G>C rs528913410
NM_000093.4(COL5A1):c.3115-108C>T
NM_000093.4(COL5A1):c.3115-10C>T rs1018752469
NM_000093.4(COL5A1):c.3115-67G>A
NM_000093.4(COL5A1):c.315T>C (p.Thr105=) rs1232024630
NM_000093.4(COL5A1):c.3171T>C (p.Gly1057=) rs943030077
NM_000093.4(COL5A1):c.3201A>G (p.Pro1067=) rs773094034
NM_000093.4(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796
NM_000093.4(COL5A1):c.3204+3G>A rs202054108
NM_000093.4(COL5A1):c.3205-18C>G rs199557977
NM_000093.4(COL5A1):c.3225C>T (p.Gly1075=) rs1554803625
NM_000093.4(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
NM_000093.4(COL5A1):c.3258+258T>C
NM_000093.4(COL5A1):c.3258+7C>A rs750710374
NM_000093.4(COL5A1):c.3259-8C>T rs146461106
NM_000093.4(COL5A1):c.3259-99A>T
NM_000093.4(COL5A1):c.3276A>G (p.Arg1092=) rs1554803828
NM_000093.4(COL5A1):c.3291C>T (p.Ala1097=) rs371821655
NM_000093.4(COL5A1):c.3294T>C (p.Ala1098=) rs949276689
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.3312A>G (p.Pro1104=) rs1554803839
NM_000093.4(COL5A1):c.3366+18T>C rs751538872
NM_000093.4(COL5A1):c.3366+245C>A
NM_000093.4(COL5A1):c.3367-281C>T
NM_000093.4(COL5A1):c.3367-86C>T
NM_000093.4(COL5A1):c.3369C>T (p.Gly1123=) rs546229885
NM_000093.4(COL5A1):c.3418G>A (p.Val1140Met) rs149616140
NM_000093.4(COL5A1):c.3441C>A (p.Gly1147=) rs755982747
NM_000093.4(COL5A1):c.3465C>T (p.Asp1155=) rs145134399
NM_000093.4(COL5A1):c.3474+7C>T rs550497696
NM_000093.4(COL5A1):c.3495G>A (p.Gly1165=) rs886038234
NM_000093.4(COL5A1):c.3510G>A (p.Lys1170=) rs543950268
NM_000093.4(COL5A1):c.3528+14C>T rs371865645
NM_000093.4(COL5A1):c.3528+19G>T rs200672136
NM_000093.4(COL5A1):c.3529-5C>T rs755227263
NM_000093.4(COL5A1):c.354C>T (p.Ser118=) rs748711211
NM_000093.4(COL5A1):c.3564C>A (p.Ile1188=) rs766961124
NM_000093.4(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.4(COL5A1):c.3573A>G (p.Pro1191=) rs564398230
NM_000093.4(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_000093.4(COL5A1):c.3600G>A (p.Pro1200=) rs187345008
NM_000093.4(COL5A1):c.363C>T (p.Asn121=) rs369180922
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.36G>C (p.Ala12=) rs1029930975
NM_000093.4(COL5A1):c.3732C>T (p.Asp1244=) rs377422775
NM_000093.4(COL5A1):c.3744+19C>T rs200498760
NM_000093.4(COL5A1):c.3744+39C>T
NM_000093.4(COL5A1):c.3750C>G (p.Pro1250=) rs192806271
NM_000093.4(COL5A1):c.3753G>A (p.Pro1251=) rs779638584
NM_000093.4(COL5A1):c.3780C>T (p.Ser1260=) rs150591401
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.3852+10G>A rs749190469
NM_000093.4(COL5A1):c.3852+9C>T rs548696863
NM_000093.4(COL5A1):c.3853-125C>A
NM_000093.4(COL5A1):c.3853-50G>A
NM_000093.4(COL5A1):c.3870A>G (p.Ala1290=)
NM_000093.4(COL5A1):c.3888G>A (p.Pro1296=) rs375631252
NM_000093.4(COL5A1):c.3897C>T (p.Gly1299=) rs745918663
NM_000093.4(COL5A1):c.3900C>T (p.Gly1300=) rs879205988
NM_000093.4(COL5A1):c.3906+10C>T rs183881247
NM_000093.4(COL5A1):c.3906+15G>A rs370937109
NM_000093.4(COL5A1):c.3906+15G>C rs370937109
NM_000093.4(COL5A1):c.3906+19C>T rs571788196
NM_000093.4(COL5A1):c.3906+20G>A rs148053413
NM_000093.4(COL5A1):c.3906+34A>G
NM_000093.4(COL5A1):c.3906+7G>A rs200333878
NM_000093.4(COL5A1):c.3912C>T (p.Pro1304=) rs773909152
NM_000093.4(COL5A1):c.3921A>G (p.Glu1307=) rs1322220087
NM_000093.4(COL5A1):c.3960C>T (p.Ala1320=) rs1057524173
NM_000093.4(COL5A1):c.3987C>T (p.Pro1329=) rs770802769
NM_000093.4(COL5A1):c.3999T>C (p.Gly1333=) rs1554805651
NM_000093.4(COL5A1):c.4014+209A>G
NM_000093.4(COL5A1):c.4014+7A>G rs1554805661
NM_000093.4(COL5A1):c.4015-212C>T
NM_000093.4(COL5A1):c.4015-30C>T
NM_000093.4(COL5A1):c.4044C>T (p.Gly1348=) rs369945188
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.4068+11A>G
NM_000093.4(COL5A1):c.4068+17G>A rs1554805806
NM_000093.4(COL5A1):c.408C>T (p.Pro136=) rs376435758
NM_000093.4(COL5A1):c.4113C>T (p.Pro1371=) rs143794669
NM_000093.4(COL5A1):c.4122+97C>A
NM_000093.4(COL5A1):c.4123-10C>T rs1057524402
NM_000093.4(COL5A1):c.4123-302C>G
NM_000093.4(COL5A1):c.4123-303C>A
NM_000093.4(COL5A1):c.4139C>A (p.Thr1380Asn) rs863223439
NM_000093.4(COL5A1):c.4158G>A (p.Ser1386=) rs1383677988
NM_000093.4(COL5A1):c.4176+19A>C rs746397034
NM_000093.4(COL5A1):c.4177-151G>T
NM_000093.4(COL5A1):c.417C>T (p.Leu139=) rs138687282
NM_000093.4(COL5A1):c.4197C>T (p.Gly1399=) rs1397888531
NM_000093.4(COL5A1):c.4200C>T (p.Pro1400=) rs752468183
NM_000093.4(COL5A1):c.420C>T (p.Tyr140=) rs540553997
NM_000093.4(COL5A1):c.4231-12G>A rs188473199
NM_000093.4(COL5A1):c.4231-16C>T rs1057522679
NM_000093.4(COL5A1):c.4287G>C (p.Gly1429=) rs936839849
NM_000093.4(COL5A1):c.4290C>T (p.Ala1430=) rs368011067
NM_000093.4(COL5A1):c.42C>T (p.Arg14=) rs1554772576
NM_000093.4(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_000093.4(COL5A1):c.431_432delinsAT (p.Thr144Asn) rs864622040
NM_000093.4(COL5A1):c.4326C>A (p.Ile1442=) rs942145911
NM_000093.4(COL5A1):c.4338+18G>C rs781247782
NM_000093.4(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
NM_000093.4(COL5A1):c.4386C>T (p.Gly1462=) rs759256816
NM_000093.4(COL5A1):c.4393-7C>T rs947083271
NM_000093.4(COL5A1):c.4393-9C>T rs11792181
NM_000093.4(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_000093.4(COL5A1):c.4446+14C>T rs1564481400
NM_000093.4(COL5A1):c.491+92C>T
NM_000093.4(COL5A1):c.491+9G>A rs752150900
NM_000093.4(COL5A1):c.492-16A>G
NM_000093.4(COL5A1):c.492-76C>G
NM_000093.4(COL5A1):c.513C>T (p.Ser171=) rs754997436
NM_000093.4(COL5A1):c.514G>A (p.Val172Ile) rs150147262
NM_000093.4(COL5A1):c.528T>C (p.Asn176=) rs769674770
NM_000093.4(COL5A1):c.534C>T (p.Thr178=) rs1554781685
NM_000093.4(COL5A1):c.543C>T (p.Leu181=) rs368485498
NM_000093.4(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_000093.4(COL5A1):c.597C>G (p.Ile199Met) rs147008954
NM_000093.4(COL5A1):c.597C>T (p.Ile199=) 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.615C>A (p.Ile205=) rs201286195
NM_000093.4(COL5A1):c.654+105G>A
NM_000093.4(COL5A1):c.655-106G>A
NM_000093.4(COL5A1):c.655-16G>A rs371301230
NM_000093.4(COL5A1):c.67_69CTG[7] (p.Leu28dup) rs773994971
NM_000093.4(COL5A1):c.723C>T (p.Ser241=) rs1554787555
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.761C>T (p.Ser254Leu) rs144844792
NM_000093.4(COL5A1):c.766G>A (p.Asp256Asn) rs886038237
NM_000093.4(COL5A1):c.787-15G>A rs150200872
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.790A>C (p.Thr264Pro) rs863223440
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.825C>T (p.Tyr275=) rs771253587
NM_000093.4(COL5A1):c.849C>T (p.Pro283=)
NM_000093.4(COL5A1):c.888C>T (p.Pro296=)
NM_000093.4(COL5A1):c.921C>T (p.Pro307=) rs144335980
NM_000093.4(COL5A1):c.924+13C>T rs199836060
NM_000093.4(COL5A1):c.924+148G>C
NM_000093.4(COL5A1):c.924+14G>A rs200595318
NM_000093.4(COL5A1):c.924+297C>A
NM_000093.4(COL5A1):c.925-180C>T
NM_000093.4(COL5A1):c.925-63C>T
NM_000093.4(COL5A1):c.934C>G (p.Pro312Ala) rs140105243
NM_000093.4(COL5A1):c.936G>A (p.Pro312=) rs150364815
NM_000093.4(COL5A1):c.945G>A (p.Thr315=) rs149123775
NM_000093.4(COL5A1):c.987G>A (p.Lys329=)
NM_000093.4(COL5A1):c.996C>T (p.Asp332=) rs144763302
NM_000093.4(COL5A1):c.999C>T (p.Val333=) rs138702819
NM_000093.4(COL5A1):c.9C>A (p.Val3=) rs1554772559
NM_001278074.1(COL5A1):c.-37G>A rs374979485
NM_001278074.1(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_001278074.1(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_001278074.1(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_001278074.1(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_001278074.1(COL5A1):c.1390-18CT[3] rs863223441
NM_001278074.1(COL5A1):c.1476C>T (p.Val492=) rs141093527
NM_001278074.1(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_001278074.1(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_001278074.1(COL5A1):c.2031G>A (p.Glu677=) rs61737719
NM_001278074.1(COL5A1):c.2034+24C>T rs41298367
NM_001278074.1(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_001278074.1(COL5A1):c.2646+12C>T rs751662116
NM_001278074.1(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_001278074.1(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_001278074.1(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966
NM_001278074.1(COL5A1):c.2892C>T (p.Gly964=) rs78511105
NM_001278074.1(COL5A1):c.3367-14_3367-12del rs750002182
NM_001278074.1(COL5A1):c.3402C>T (p.Asp1134=) rs138251296
NM_001278074.1(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_001278074.1(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_001278074.1(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_001278074.1(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_001278074.1(COL5A1):c.4122G>A (p.Thr1374=) rs3827848
NM_001278074.1(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_001278074.1(COL5A1):c.4230+5C>T rs142248898
NM_001278074.1(COL5A1):c.4230+6G>A rs77176843
NM_001278074.1(COL5A1):c.4302C>T (p.Pro1434=) rs755495352
NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe) rs150147262
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.61C>T (p.Pro21Ser) rs548525119
NM_001278074.1(COL5A1):c.850G>A (p.Glu284Lys) rs75648697

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