ClinVar Miner

List of variants in gene COL5A1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 344
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.3258+258T>C rs72774468 0.04204
NM_000093.5(COL5A1):c.491+92C>T rs11103469 0.03985
NM_000093.5(COL5A1):c.3007-96G>A rs41311216 0.03030
NM_000093.5(COL5A1):c.1827+94G>T rs78098946 0.03020
NM_000093.5(COL5A1):c.787-99G>A rs41310209 0.02988
NM_000093.5(COL5A1):c.1390-277C>T rs79210210 0.02804
NM_000093.5(COL5A1):c.2286+223G>C rs72774437 0.02606
NM_000093.5(COL5A1):c.787-181C>T rs111936833 0.02537
NM_000093.5(COL5A1):c.2485-90T>C rs62571363 0.02483
NM_000093.5(COL5A1):c.3367-86C>T rs62571406 0.02305
NM_000093.5(COL5A1):c.2646+91C>T rs62571364 0.02213
NM_000093.5(COL5A1):c.2332-177G>A rs72774444 0.02183
NM_000093.5(COL5A1):c.1164+94C>T rs113401160 0.02154
NM_000093.5(COL5A1):c.924+148G>C rs114738957 0.02067
NM_000093.5(COL5A1):c.655-106G>A rs116164506 0.02060
NM_000093.5(COL5A1):c.2034+24C>T rs41298367 0.02041
NM_000093.5(COL5A1):c.3853-125C>A rs191746934 0.01995
NM_000093.5(COL5A1):c.2431-289C>G rs62574086 0.01960
NM_000093.5(COL5A1):c.2187+101C>T rs72774432 0.01912
NM_000093.5(COL5A1):c.3366+245C>A rs138196691 0.01790
NM_000093.5(COL5A1):c.654+105G>A rs138162275 0.01724
NM_000093.5(COL5A1):c.4014+209A>G rs62571407 0.01660
NM_000093.5(COL5A1):c.2953-301G>C rs62571400 0.01645
NM_000093.5(COL5A1):c.3115-108C>T rs62571403 0.01641
NM_000093.5(COL5A1):c.1389+139G>A rs114940455 0.01478
NM_000093.5(COL5A1):c.492-274C>T rs72772558 0.01458
NM_000093.5(COL5A1):c.2799+33G>A rs111253752 0.01433
NM_000093.5(COL5A1):c.109+296A>G rs117721261 0.01402
NM_000093.5(COL5A1):c.1773+130C>T rs78092926 0.01398
NM_000093.5(COL5A1):c.925-63C>T rs77043106 0.01369
NM_000093.5(COL5A1):c.-180C>A rs188194985 0.01327
NM_000093.5(COL5A1):c.492-76C>G rs73665738 0.01306
NM_000093.5(COL5A1):c.2592+314C>T rs3124933 0.01279
NM_000093.5(COL5A1):c.2287-180G>A rs147488096 0.01273
NM_000093.5(COL5A1):c.1828-79T>G rs112173023 0.01267
NM_000093.5(COL5A1):c.277+146G>A rs78716219 0.01253
NM_000093.5(COL5A1):c.924+297C>A rs146783021 0.01226
NM_000093.5(COL5A1):c.1882-272C>T rs116091044 0.01224
NM_000093.5(COL5A1):c.2646+138G>A rs114207653 0.01179
NM_000093.5(COL5A1):c.2646+260A>G rs148809103 0.01178
NM_000093.5(COL5A1):c.3906+34A>G rs113940604 0.01101
NM_000093.5(COL5A1):c.4230+52C>T rs72774474 0.01068
NM_000093.5(COL5A1):c.925-180C>T rs187927679 0.01000
NM_000093.5(COL5A1):c.2953-46C>T rs138964558 0.00995
NM_000093.5(COL5A1):c.2485-201C>T rs138282798 0.00959
NM_000093.5(COL5A1):c.2952+216C>T rs142981679 0.00959
NM_000093.5(COL5A1):c.4123-302C>G rs115918918 0.00920
NM_000093.5(COL5A1):c.4123-303C>A rs116404572 0.00920
NM_000093.5(COL5A1):c.4122+97C>A rs79991766 0.00913
NM_000093.5(COL5A1):c.4177-151G>T rs113755365 0.00893
NM_000093.5(COL5A1):c.4015-212C>T rs144404774 0.00881
NM_000093.5(COL5A1):c.-110A>G rs180741151 0.00852
NM_000093.5(COL5A1):c.2647-250C>T rs377726116 0.00748
NM_000093.5(COL5A1):c.2431-295_2431-294del rs552255261 0.00730
NM_000093.5(COL5A1):c.1773+146G>A rs144431377 0.00709
NM_000093.5(COL5A1):c.3258+292G>A rs148175755 0.00707
NM_000093.5(COL5A1):c.3853-50G>A rs7849016 0.00706
NM_000093.5(COL5A1):c.1881+173G>A rs143376583 0.00687
NM_000093.5(COL5A1):c.1936-170G>A rs143621182 0.00682
NM_000093.5(COL5A1):c.2485-199G>A rs141771518 0.00656
NM_000093.5(COL5A1):c.3259-99A>T rs78713145 0.00651
NC_000009.12:g.134641511C>G rs77163533 0.00640
NM_000093.5(COL5A1):c.1165-68G>A rs371233552 0.00634
NM_000093.5(COL5A1):c.2134-182G>C rs76511953 0.00629
NM_000093.5(COL5A1):c.4068+117A>G rs148792483 0.00613
NM_000093.5(COL5A1):c.2898+114C>T rs139330287 0.00599
NM_000093.5(COL5A1):c.2430+41C>T rs149516949 0.00568
NM_000093.5(COL5A1):c.1390-306G>C rs188218083 0.00563
NM_000093.5(COL5A1):c.3367-281C>T rs188531160 0.00546
NM_000093.5(COL5A1):c.1989+182C>T rs41306393 0.00528
NM_000093.5(COL5A1):c.1719+264C>T rs142513996 0.00519
NM_000093.5(COL5A1):c.4230+219A>G rs146586401 0.00519
NM_000093.5(COL5A1):c.787-41G>A rs141083858 0.00513
NM_000093.5(COL5A1):c.655-328G>T rs112927487 0.00511
NM_000093.5(COL5A1):c.4339-22G>T rs193107550 0.00508
NM_000093.5(COL5A1):c.4446+209C>T rs142107844 0.00508
NM_000093.5(COL5A1):c.4177-187C>G rs115441854 0.00504
NM_000093.5(COL5A1):c.3115-67G>A rs114607788 0.00498
NM_000093.5(COL5A1):c.924+293C>G rs80138457 0.00495
NM_000093.5(COL5A1):c.3852+303C>T rs58905574 0.00494
NM_000093.5(COL5A1):c.1935+75C>T rs76579401 0.00482
NM_000093.5(COL5A1):c.2700+187T>C rs117568331 0.00471
NM_000093.5(COL5A1):c.-382C>G rs555826102 0.00465
NM_000093.5(COL5A1):c.3744+39C>T rs192855430 0.00459
NM_000093.5(COL5A1):c.924+322G>A rs113627102 0.00436
NM_000093.5(COL5A1):c.4015-30C>T rs375387898 0.00427
NM_000093.5(COL5A1):c.277+157G>A rs116455469 0.00425
NM_000093.5(COL5A1):c.2593-252G>T rs139465852 0.00415
NM_000093.5(COL5A1):c.3258+153C>T rs190630304 0.00400
NM_000093.5(COL5A1):c.2646+216G>A rs147295959 0.00390
NM_000093.5(COL5A1):c.110-148C>T rs149632687 0.00379
NM_000093.5(COL5A1):c.491+36G>C rs150536688 0.00372
NM_000093.5(COL5A1):c.3744+47G>A rs147508352 0.00358
NM_000093.5(COL5A1):c.1720-208G>A rs149251155 0.00349
NM_000093.5(COL5A1):c.4068+28G>A rs76835381 0.00343
NC_000009.12:g.134641590C>T rs12002283 0.00340
NM_000093.5(COL5A1):c.277+70G>A rs146331857 0.00340
NM_000093.5(COL5A1):c.277+294C>T rs76266800 0.00337
NM_000093.5(COL5A1):c.-249G>A rs574222596 0.00331
NM_000093.5(COL5A1):c.491+124C>T rs575232283 0.00324
NM_000093.5(COL5A1):c.4069-43T>A rs200969184 0.00320
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000093.5(COL5A1):c.1495-106A>G rs12349813 0.00314
NM_000093.5(COL5A1):c.2089-236C>T rs189006287 0.00298
NM_000093.5(COL5A1):c.4446+298G>A rs139747118 0.00277
NM_000093.5(COL5A1):c.2484+25G>C rs200239457 0.00253
NM_000093.5(COL5A1):c.1165-43G>A rs200587485 0.00195
NM_000093.5(COL5A1):c.4446+39G>A rs113451014 0.00178
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln) rs116003670 0.00162
NM_000093.5(COL5A1):c.3259-8C>T rs146461106 0.00159
NM_000093.5(COL5A1):c.3204+3G>A rs202054108 0.00112
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val) rs139788610 0.00087
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met) rs149616140 0.00087
NM_000093.5(COL5A1):c.3528+14C>T rs371865645 0.00086
NM_000093.5(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179 0.00070
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp) rs147589613 0.00058
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met) rs142313124 0.00057
NM_000093.5(COL5A1):c.2700+16C>T rs371771646 0.00056
NM_000093.5(COL5A1):c.597C>G (p.Ile199Met) rs147008954 0.00054
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=) rs200319017 0.00044
NM_000093.5(COL5A1):c.2431-57C>T rs117990742 0.00038
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000093.5(COL5A1):c.3690+6T>A rs375998368 0.00038
NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=) rs138251296 0.00037
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn) rs142890619 0.00034
NM_000093.5(COL5A1):c.3006+17C>T rs140528268 0.00031
NM_000093.5(COL5A1):c.921C>T (p.Pro307=) rs144335980 0.00021
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000093.5(COL5A1):c.3185G>A (p.Arg1062Gln) rs771807198 0.00018
NM_000093.5(COL5A1):c.2233-21G>C rs201112363 0.00014
NM_000093.5(COL5A1):c.36G>C (p.Ala12=) rs1029930975 0.00014
NM_000093.5(COL5A1):c.1476C>T (p.Val492=) rs141093527 0.00013
NM_000093.5(COL5A1):c.2845-17C>A rs368737278 0.00013
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=) rs199630108 0.00011
NM_000093.5(COL5A1):c.3006+40G>A rs118152606 0.00011
NM_000093.5(COL5A1):c.3528+19G>T rs200672136 0.00011
NM_000093.5(COL5A1):c.3750C>G (p.Pro1250=) rs192806271 0.00011
NM_000093.5(COL5A1):c.2391C>T (p.Ala797=) rs142347159 0.00010
NM_000093.5(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962 0.00009
NM_000093.5(COL5A1):c.2331+15C>T rs369093559 0.00009
NM_000093.5(COL5A1):c.3744+19C>T rs200498760 0.00009
NM_000093.5(COL5A1):c.3870A>G (p.Ala1290=) rs541963919 0.00009
NM_000093.5(COL5A1):c.1495-11C>A rs199501759 0.00008
NM_000093.5(COL5A1):c.2088C>T (p.Pro696=) rs146757272 0.00008
NM_000093.5(COL5A1):c.684G>A (p.Ser228=) rs139705205 0.00008
NM_000093.5(COL5A1):c.-4C>G rs769694875 0.00007
NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=) rs758336822 0.00007
NM_000093.5(COL5A1):c.3115-10C>T rs1018752469 0.00007
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=) rs564398230 0.00007
NM_000093.5(COL5A1):c.467G>A (p.Arg156Gln) rs770896795 0.00007
NM_000093.5(COL5A1):c.934C>G (p.Pro312Ala) rs140105243 0.00007
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=) rs371345820 0.00006
NM_000093.5(COL5A1):c.2646+14G>A rs200583777 0.00006
NM_000093.5(COL5A1):c.2655T>C (p.Ile885=) rs746323129 0.00006
NM_000093.5(COL5A1):c.3205-18C>G rs199557977 0.00006
NM_000093.5(COL5A1):c.3465C>T (p.Asp1155=) rs145134399 0.00006
NM_000093.5(COL5A1):c.408C>T (p.Pro136=) rs376435758 0.00006
NM_000093.5(COL5A1):c.4231-9G>A rs570545638 0.00006
NM_000093.5(COL5A1):c.753C>T (p.Thr251=) rs374813957 0.00006
NM_000093.5(COL5A1):c.1165-8C>T rs770303209 0.00005
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=) rs372082908 0.00005
NM_000093.5(COL5A1):c.2034+18G>C rs200055343 0.00005
NM_000093.5(COL5A1):c.2482C>T (p.Arg828Trp) rs185912761 0.00005
NM_000093.5(COL5A1):c.2502C>T (p.Pro834=) rs144775947 0.00005
NM_000093.5(COL5A1):c.2593-15T>C rs747677530 0.00005
NM_000093.5(COL5A1):c.3087G>A (p.Pro1029=) rs774035950 0.00005
NM_000093.5(COL5A1):c.3369C>T (p.Gly1123=) rs546229885 0.00005
NM_000093.5(COL5A1):c.4068+11A>G rs371926479 0.00005
NM_000093.5(COL5A1):c.1527C>T (p.Ala509=) rs746510456 0.00004
NM_000093.5(COL5A1):c.219C>T (p.Val73=) rs774691915 0.00004
NM_000093.5(COL5A1):c.2253C>T (p.Gly751=) rs772257562 0.00004
NM_000093.5(COL5A1):c.2398A>G (p.Ile800Val) rs146870918 0.00004
NM_000093.5(COL5A1):c.2485-10T>C rs369553063 0.00004
NM_000093.5(COL5A1):c.2592+17G>A rs750947144 0.00004
NM_000093.5(COL5A1):c.2700+47G>C rs533232763 0.00004
NM_000093.5(COL5A1):c.278-50T>C rs372237723 0.00004
NM_000093.5(COL5A1):c.2997C>T (p.Val999=) rs201897490 0.00004
NM_000093.5(COL5A1):c.3987C>T (p.Pro1329=) rs770802769 0.00004
NM_000093.5(COL5A1):c.4393-7C>T rs947083271 0.00004
NM_000093.5(COL5A1):c.945G>A (p.Thr315=) rs149123775 0.00004
NM_000093.5(COL5A1):c.1263C>T (p.Tyr421=) rs373846823 0.00003
NM_000093.5(COL5A1):c.2079C>T (p.Pro693=) rs186098435 0.00003
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171 0.00003
NM_000093.5(COL5A1):c.2415C>T (p.Gly805=) rs769239532 0.00003
NM_000093.5(COL5A1):c.2484+6C>T rs576976549 0.00003
NM_000093.5(COL5A1):c.2899-13G>T rs761096695 0.00003
NM_000093.5(COL5A1):c.2991C>T (p.Gly997=) rs766208976 0.00003
NM_000093.5(COL5A1):c.3564C>A (p.Ile1188=) rs766961124 0.00003
NM_000093.5(COL5A1):c.3912C>T (p.Pro1304=) rs773909152 0.00003
NM_000093.5(COL5A1):c.4386C>T (p.Gly1462=) rs759256816 0.00003
NM_000093.5(COL5A1):c.513C>T (p.Ser171=) rs754997436 0.00003
NM_000093.5(COL5A1):c.615C>A (p.Ile205=) rs201286195 0.00003
NM_000093.5(COL5A1):c.735C>T (p.Asp245=) rs746769184 0.00003
NM_000093.5(COL5A1):c.-14C>T rs1334351036 0.00002
NM_000093.5(COL5A1):c.1284G>A (p.Ser428=) rs745575705 0.00002
NM_000093.5(COL5A1):c.1332+20C>T rs935688642 0.00002
NM_000093.5(COL5A1):c.1431+11G>A rs768116740 0.00002
NM_000093.5(COL5A1):c.1734C>T (p.Ser578=) rs148094039 0.00002
NM_000093.5(COL5A1):c.1818C>T (p.Pro606=) rs761257919 0.00002
NM_000093.5(COL5A1):c.1827+16G>A rs745897562 0.00002
NM_000093.5(COL5A1):c.2526T>C (p.Pro842=) rs763634004 0.00002
NM_000093.5(COL5A1):c.3366+18T>C rs751538872 0.00002
NM_000093.5(COL5A1):c.3732C>T (p.Asp1244=) rs377422775 0.00002
NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe) rs762625123 0.00002
NM_000093.5(COL5A1):c.3960C>T (p.Ala1320=) rs1057524173 0.00002
NM_000093.5(COL5A1):c.420C>T (p.Tyr140=) rs540553997 0.00002
NM_000093.5(COL5A1):c.528T>C (p.Asn176=) rs769674770 0.00002
NM_000093.5(COL5A1):c.655-16G>A rs371301230 0.00002
NM_000093.5(COL5A1):c.-17G>A rs1554772552 0.00001
NM_000093.5(COL5A1):c.1044G>A (p.Thr348=) rs1246095864 0.00001
NM_000093.5(COL5A1):c.1053G>A (p.Pro351=) rs370018361 0.00001
NM_000093.5(COL5A1):c.1239C>T (p.Asp413=) rs775974461 0.00001
NM_000093.5(COL5A1):c.1308G>A (p.Ala436=) rs200959477 0.00001
NM_000093.5(COL5A1):c.1701A>C (p.Thr567=) rs143647239 0.00001
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=) rs376865199 0.00001
NM_000093.5(COL5A1):c.1936-10C>T rs779506561 0.00001
NM_000093.5(COL5A1):c.1936-15C>G rs755787951 0.00001
NM_000093.5(COL5A1):c.1990-12T>C rs776163211 0.00001
NM_000093.5(COL5A1):c.2181C>T (p.Gly727=) rs201298716 0.00001
NM_000093.5(COL5A1):c.2188-8C>T rs369789387 0.00001
NM_000093.5(COL5A1):c.2238C>T (p.Pro746=) rs373617798 0.00001
NM_000093.5(COL5A1):c.2331+11G>A rs753145256 0.00001
NM_000093.5(COL5A1):c.2385+15C>T rs937874882 0.00001
NM_000093.5(COL5A1):c.2430+4A>C rs772211603 0.00001
NM_000093.5(COL5A1):c.243G>A (p.Ala81=) rs540291731 0.00001
NM_000093.5(COL5A1):c.2485-18C>T rs757531928 0.00001
NM_000093.5(COL5A1):c.2580C>A (p.Pro860=) rs762553184 0.00001
NM_000093.5(COL5A1):c.2593-3C>T rs199895142 0.00001
NM_000093.5(COL5A1):c.2646+12C>T rs751662116 0.00001
NM_000093.5(COL5A1):c.2649C>T (p.Gly883=) rs770622608 0.00001
NM_000093.5(COL5A1):c.2701-12C>G rs751422216 0.00001
NM_000093.5(COL5A1):c.277+20G>C rs772363522 0.00001
NM_000093.5(COL5A1):c.2817C>T (p.Asp939=) rs750716466 0.00001
NM_000093.5(COL5A1):c.2845-11T>C rs769433136 0.00001
NM_000093.5(COL5A1):c.2898+20C>T rs781174331 0.00001
NM_000093.5(COL5A1):c.324C>T (p.Ala108=) rs765929345 0.00001
NM_000093.5(COL5A1):c.3276A>G (p.Arg1092=) rs1554803828 0.00001
NM_000093.5(COL5A1):c.3294T>C (p.Ala1098=) rs949276689 0.00001
NM_000093.5(COL5A1):c.3441C>A (p.Gly1147=) rs755982747 0.00001
NM_000093.5(COL5A1):c.3529-5C>T rs755227263 0.00001
NM_000093.5(COL5A1):c.363C>T (p.Asn121=) rs369180922 0.00001
NM_000093.5(COL5A1):c.3642T>C (p.Asp1214=) rs1351482667 0.00001
NM_000093.5(COL5A1):c.3900C>T (p.Gly1300=) rs879205988 0.00001
NM_000093.5(COL5A1):c.4011C>T (p.Ser1337=) rs1363178603 0.00001
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=) rs755495352 0.00001
NM_000093.5(COL5A1):c.4338+18G>C rs781247782 0.00001
NM_000093.5(COL5A1):c.474C>T (p.Ile158=) rs372769772 0.00001
NM_000093.5(COL5A1):c.492-16A>G rs775028310 0.00001
NM_000093.5(COL5A1):c.825C>T (p.Tyr275=) rs771253587 0.00001
NM_000093.5(COL5A1):c.849C>T (p.Pro283=) rs761805821 0.00001
NM_000093.5(COL5A1):c.888C>T (p.Pro296=) rs747624704 0.00001
NM_000093.5(COL5A1):c.987G>A (p.Lys329=) rs769516996 0.00001
NM_000093.5(COL5A1):c.-28_-7del rs1554772545
NM_000093.5(COL5A1):c.-33G>T rs1057523091
NM_000093.5(COL5A1):c.1011C>G (p.Asp337Glu) rs1834832160
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1197C>T (p.Asp399=) rs1024770210
NM_000093.5(COL5A1):c.1224G>A (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1290C>T (p.Ile430=) rs572136244
NM_000093.5(COL5A1):c.1368A>G (p.Gly456=) rs1554788483
NM_000093.5(COL5A1):c.1390-4C>T rs1382134438
NM_000093.5(COL5A1):c.1410G>A (p.Pro470=) rs148389741
NM_000093.5(COL5A1):c.1410G>C (p.Pro470=) rs148389741
NM_000093.5(COL5A1):c.1432-18C>T rs761261485
NM_000093.5(COL5A1):c.1663-273_1663-224dup rs532542070
NM_000093.5(COL5A1):c.1720-3T>C rs960627780
NM_000093.5(COL5A1):c.1774-16C>T rs755041858
NM_000093.5(COL5A1):c.1794C>G (p.Gly598=) rs370565229
NM_000093.5(COL5A1):c.1827+134C>T rs528098067
NM_000093.5(COL5A1):c.1828-147G>A rs150730683
NM_000093.5(COL5A1):c.1828-263G>A rs114326916
NM_000093.5(COL5A1):c.1881+287G>A rs116268806
NM_000093.5(COL5A1):c.1936-16C>G rs199694949
NM_000093.5(COL5A1):c.1936-21G>C rs77716946
NM_000093.5(COL5A1):c.2049G>C (p.Leu683=) rs1060504529
NM_000093.5(COL5A1):c.210C>T (p.Gly70=) rs1161786135
NM_000093.5(COL5A1):c.2181C>A (p.Gly727=) rs201298716
NM_000093.5(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_000093.5(COL5A1):c.2187+10C>T rs1057521575
NM_000093.5(COL5A1):c.2196A>G (p.Pro732=) rs1588526318
NM_000093.5(COL5A1):c.2233-99G>A rs77818497
NM_000093.5(COL5A1):c.2286+178A>C rs146398092
NM_000093.5(COL5A1):c.231C>T (p.Val77=) rs767430471
NM_000093.5(COL5A1):c.2331+109G>A rs10125874
NM_000093.5(COL5A1):c.2332-20C>T rs1588534559
NM_000093.5(COL5A1):c.2332-9T>G rs1554797620
NM_000093.5(COL5A1):c.2386-9C>T rs1057523879
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=) rs1554798918
NM_000093.5(COL5A1):c.2484+14G>A rs371753763
NM_000093.5(COL5A1):c.2544C>A (p.Arg848=) rs201556585
NM_000093.5(COL5A1):c.2593-273C>A rs141782203
NM_000093.5(COL5A1):c.2676C>T (p.Gly892=) rs143161140
NM_000093.5(COL5A1):c.2701-14T>C rs1554801400
NM_000093.5(COL5A1):c.2701-349_2701-346del rs138377947
NM_000093.5(COL5A1):c.2746-12C>G rs1554801436
NM_000093.5(COL5A1):c.2754G>A (p.Arg918=) rs776715400
NM_000093.5(COL5A1):c.277+82G>A rs116650621
NM_000093.5(COL5A1):c.278-4C>A rs1057522143
NM_000093.5(COL5A1):c.2800-18C>T rs73664144
NM_000093.5(COL5A1):c.2800-18dup rs749260939
NM_000093.5(COL5A1):c.2826T>C (p.Ala942=) rs1837911181
NM_000093.5(COL5A1):c.2845-90G>A rs140168393
NM_000093.5(COL5A1):c.2899-72G>A rs73561905
NM_000093.5(COL5A1):c.3007-18C>G rs775358866
NM_000093.5(COL5A1):c.3054G>A (p.Gly1018=) rs369163868
NM_000093.5(COL5A1):c.3114+10T>C rs1057523401
NM_000093.5(COL5A1):c.3171T>C (p.Gly1057=) rs943030077
NM_000093.5(COL5A1):c.3201A>G (p.Pro1067=) rs773094034
NM_000093.5(COL5A1):c.3303C>A (p.Ile1101=) rs760754491
NM_000093.5(COL5A1):c.3367-14_3367-12del rs750002182
NM_000093.5(COL5A1):c.3475-139A>C rs112889019
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.5(COL5A1):c.3852+48GT[10] rs375849402
NM_000093.5(COL5A1):c.3852+62_3852+63del rs112541886
NM_000093.5(COL5A1):c.3873T>A (p.Gly1291=) rs1005323480
NM_000093.5(COL5A1):c.3906+15G>A rs370937109
NM_000093.5(COL5A1):c.3906+15G>C rs370937109
NM_000093.5(COL5A1):c.3936C>A (p.Gly1312=) rs367804791
NM_000093.5(COL5A1):c.4014+7A>G rs1554805661
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000093.5(COL5A1):c.405T>C (p.Ser135=) rs2132569922
NM_000093.5(COL5A1):c.4068+17G>A rs1554805806
NM_000093.5(COL5A1):c.4068+87_4068+90del rs141938982
NM_000093.5(COL5A1):c.4123-10C>T rs1057524402
NM_000093.5(COL5A1):c.4139C>A (p.Thr1380Asn) rs863223439
NM_000093.5(COL5A1):c.4167A>G (p.Pro1389=) rs2132858820
NM_000093.5(COL5A1):c.4197C>T (p.Gly1399=) rs1397888531
NM_000093.5(COL5A1):c.4230+77G>A rs146381563
NM_000093.5(COL5A1):c.4231-16C>T rs1057522679
NM_000093.5(COL5A1):c.4231-309C>T rs150983463
NM_000093.5(COL5A1):c.4287G>C (p.Gly1429=) rs936839849
NM_000093.5(COL5A1):c.42C>T (p.Arg14=) rs1554772576
NM_000093.5(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn) rs577270517
NM_000093.5(COL5A1):c.514G>A (p.Val172Ile) rs150147262
NM_000093.5(COL5A1):c.534C>T (p.Thr178=) rs1554781685
NM_000093.5(COL5A1):c.597C>T (p.Ile199=) rs147008954
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del) rs773994971
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup) rs773994971
NM_000093.5(COL5A1):c.787-8G>A rs780803048
NM_000093.5(COL5A1):c.993G>A (p.Glu331=) rs1834830929
NM_000093.5(COL5A1):c.9C>A (p.Val3=) rs1554772559

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