ClinVar Miner

List of variants in gene COL5A1 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 315
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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.1588G>A (p.Gly530Ser) rs61735045 0.03116
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.2852A>G (p.Asn951Ser) rs61736966 0.00972
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.2439C>T (p.Asp813=) rs148648778 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.573C>T (p.Leu191=) rs116715381 0.00312
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.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000093.5(COL5A1):c.1165-43G>A rs200587485 0.00195
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
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.4065C>T (p.Pro1355=) rs61737906 0.00164
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.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
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.4066G>A (p.Ala1356Thr) rs147868179 0.00070
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
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.597C>G (p.Ile199Met) rs147008954 0.00054
NM_000093.5(COL5A1):c.3906+20G>A rs148053413 0.00047
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
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.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00028
NM_000093.5(COL5A1):c.4393-19C>T rs186732287 0.00024
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000093.5(COL5A1):c.921C>T (p.Pro307=) rs144335980 0.00021
NM_000093.5(COL5A1):c.3185G>A (p.Arg1062Gln) rs771807198 0.00018
NM_000093.5(COL5A1):c.279G>A (p.Ala93=) rs145090868 0.00017
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=) rs368551709 0.00016
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.3906+19C>T rs571788196 0.00014
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748 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.2391C>T (p.Ala797=) rs142347159 0.00010
NM_000093.5(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962 0.00009
NM_000093.5(COL5A1):c.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=) rs764683617 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000093.5(COL5A1):c.3870A>G (p.Ala1290=) rs541963919 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000093.5(COL5A1):c.1495-11C>A rs199501759 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.467G>A (p.Arg156Gln) rs770896795 0.00007
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=) rs371345820 0.00006
NM_000093.5(COL5A1):c.2655T>C (p.Ile885=) rs746323129 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 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.1228C>T (p.Arg410Trp) rs745360062 0.00005
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=) rs372082908 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.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.4239C>T (p.Ala1413=) rs537406193 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.2485-10T>C rs369553063 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.3987C>T (p.Pro1329=) rs770802769 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.1587C>T (p.Gly529=) rs529255491 0.00003
NM_000093.5(COL5A1):c.2035-10C>T rs754111650 0.00003
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171 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.3303C>T (p.Ile1101=) rs760754491 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.1284G>A (p.Ser428=) rs745575705 0.00002
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=) rs373460629 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.2526T>C (p.Pro842=) rs763634004 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.4131C>T (p.Pro1377=) rs145101509 0.00002
NM_000093.5(COL5A1):c.57G>A (p.Leu19=) rs761259908 0.00002
NM_000093.5(COL5A1):c.1005C>T (p.Ile335=) rs761397885 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.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.2649C>T (p.Gly883=) rs770622608 0.00001
NM_000093.5(COL5A1):c.2845-11T>C rs769433136 0.00001
NM_000093.5(COL5A1):c.2845-8G>A rs775063630 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.3330G>A (p.Gln1110=) rs1461218386 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.4011C>T (p.Ser1337=) rs1363178603 0.00001
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=) rs755495352 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.756A>C (p.Pro252=) rs1030582099 0.00001
NM_000093.5(COL5A1):c.801C>T (p.Asp267=) rs778401280 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.1006G>A (p.Gly336Arg)
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.1224G>A (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1290C>T (p.Ile430=) rs572136244
NM_000093.5(COL5A1):c.1296G>A (p.Pro432=)
NM_000093.5(COL5A1):c.129G>A (p.Leu43=) rs1588441009
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
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.1428C>G (p.Pro476=) rs745633063
NM_000093.5(COL5A1):c.1663-273_1663-224dup rs532542070
NM_000093.5(COL5A1):c.1827+12G>A rs1251697175
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.1977C>T (p.Asp659=) rs370766020
NM_000093.5(COL5A1):c.1989+14C>T
NM_000093.5(COL5A1):c.2088+18C>G rs889625058
NM_000093.5(COL5A1):c.2196A>G (p.Pro732=) rs1588526318
NM_000093.5(COL5A1):c.2233-99G>A rs77818497
NM_000093.5(COL5A1):c.2262A>G (p.Gly754=) rs1836755970
NM_000093.5(COL5A1):c.2286+178A>C rs146398092
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.2430+16C>T rs530385215
NM_000093.5(COL5A1):c.2463C>T (p.Asp821=) rs1588542906
NM_000093.5(COL5A1):c.2484+14G>A rs371753763
NM_000093.5(COL5A1):c.2593-273C>A rs141782203
NM_000093.5(COL5A1):c.2701-349_2701-346del rs138377947
NM_000093.5(COL5A1):c.2746-12C>G rs1554801436
NM_000093.5(COL5A1):c.277+82G>A rs116650621
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.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.3475-139A>C rs112889019
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.5(COL5A1):c.3612C>T (p.Gly1204=) rs778501874
NM_000093.5(COL5A1):c.3648T>C (p.Gly1216=) rs1588577626
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.3936C>A (p.Gly1312=) rs367804791
NM_000093.5(COL5A1):c.3945C>T (p.Gly1315=)
NM_000093.5(COL5A1):c.405T>C (p.Ser135=) rs2132569922
NM_000093.5(COL5A1):c.4068+87_4068+90del rs141938982
NM_000093.5(COL5A1):c.4158G>A (p.Ser1386=) rs1383677988
NM_000093.5(COL5A1):c.4167A>G (p.Pro1389=) rs2132858820
NM_000093.5(COL5A1):c.4230+77G>A rs146381563
NM_000093.5(COL5A1):c.4231-309C>T rs150983463
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.514G>T (p.Val172Phe) rs150147262
NM_000093.5(COL5A1):c.558G>A (p.Lys186=) rs1564397188
NM_000093.5(COL5A1):c.597C>T (p.Ile199=) rs147008954
NM_000093.5(COL5A1):c.669G>A (p.Gln223=) rs1300899218
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.762G>A (p.Ser254=) rs767928508
NM_000093.5(COL5A1):c.787-8G>A rs780803048
NM_000093.5(COL5A1):c.924+18G>C
NM_000093.5(COL5A1):c.993G>A (p.Glu331=) rs1834830929

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