ClinVar Miner

List of variants in gene COL5A1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1880
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.1432-5T>C rs3128612 0.57159
NM_000093.5(COL5A1):c.2952+11A>T rs4240707 0.51337
NM_000093.5(COL5A1):c.2430+20C>T rs3124932 0.36473
NM_000093.5(COL5A1):c.738C>T (p.Thr246=) rs3124299 0.34823
NM_000093.5(COL5A1):c.4176+9T>G rs10858282 0.31743
NM_000093.5(COL5A1):c.1569+16A>G rs12685946 0.29746
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_000093.5(COL5A1):c.3745-18G>A rs45556931 0.10766
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=) rs41306391 0.08110
NM_000093.5(COL5A1):c.1569+15C>T rs62574081 0.07860
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) rs61729545 0.06122
NM_000093.5(COL5A1):c.2745+15A>T rs79481146 0.04340
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03168
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02700
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02555
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=) rs61737941 0.00682
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=) rs61737708 0.00634
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_000093.5(COL5A1):c.4393-17C>T rs141152269 0.00515
NM_000093.5(COL5A1):c.2799+13C>A rs75668257 0.00443
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00360
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00288
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000093.5(COL5A1):c.110-19T>C rs148294644 0.00239
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_000093.5(COL5A1):c.277+6T>G rs201910803 0.00174
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.1539C>T (p.Pro513=) rs151173863 0.00129
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) rs201166370 0.00124
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
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.924+13C>T rs199836060 0.00106
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=) rs78215347 0.00101
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
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.1998C>T (p.Asp666=) rs143858735 0.00071
NM_000093.5(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179 0.00070
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00067
NM_000093.5(COL5A1):c.252C>T (p.Ser84=) rs151293601 0.00066
NM_000093.5(COL5A1):c.3115-14G>A rs368945793 0.00065
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264 0.00061
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp) rs147589613 0.00058
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 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.3906+20G>A rs148053413 0.00047
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=) rs200319017 0.00044
NM_000093.5(COL5A1):c.2089-9C>T rs181246690 0.00041
NM_000093.5(COL5A1):c.924+14G>A rs200595318 0.00041
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000093.5(COL5A1):c.1281G>A (p.Pro427=) rs147292897 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.3991G>A (p.Asp1331Asn) rs545973022 0.00033
NM_000093.5(COL5A1):c.3006+17C>T rs140528268 0.00031
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) rs142114921 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000093.5(COL5A1):c.2331+16G>A rs199654385 0.00028
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.1637C>T (p.Ala546Val) rs557361751 0.00022
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000093.5(COL5A1):c.1774-7C>A rs371941850 0.00021
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=) rs375631252 0.00021
NM_000093.5(COL5A1):c.921C>T (p.Pro307=) rs144335980 0.00021
NM_000093.5(COL5A1):c.999C>T (p.Val333=) rs138702819 0.00020
NM_000093.5(COL5A1):c.2844+20G>A rs200916696 0.00019
NM_000093.5(COL5A1):c.3649C>T (p.Pro1217Ser) rs139116598 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942 0.00019
NM_000093.5(COL5A1):c.944C>T (p.Thr315Met) rs145093766 0.00019
NM_000093.5(COL5A1):c.2799+11G>A rs377322092 0.00018
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.417C>T (p.Leu139=) rs138687282 0.00017
NM_000093.5(COL5A1):c.803G>T (p.Gly268Val) rs145552797 0.00017
NM_000093.5(COL5A1):c.1569+20G>A rs200690483 0.00016
NM_000093.5(COL5A1):c.2287-16T>G rs201161949 0.00016
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr) rs370143255 0.00016
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=) rs368551709 0.00016
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala) rs376144196 0.00015
NM_000093.5(COL5A1):c.1295C>T (p.Pro432Leu) rs140943202 0.00014
NM_000093.5(COL5A1):c.2089-8G>A rs368595229 0.00014
NM_000093.5(COL5A1):c.3114+12G>C rs528913410 0.00014
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=) rs371821655 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.4308G>A (p.Pro1436=) rs200073020 0.00014
NM_000093.5(COL5A1):c.1476C>T (p.Val492=) rs141093527 0.00013
NM_000093.5(COL5A1):c.1720-12A>C rs372891725 0.00013
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448 0.00013
NM_000093.5(COL5A1):c.2332-16T>A rs369948898 0.00013
NM_000093.5(COL5A1):c.2845-17C>A rs368737278 0.00013
NM_000093.5(COL5A1):c.3576C>A (p.Gly1192=) rs141676973 0.00013
NM_000093.5(COL5A1):c.409G>A (p.Val137Ile) rs145757313 0.00013
NM_000093.5(COL5A1):c.4290C>T (p.Ala1430=) rs368011067 0.00013
NM_000093.5(COL5A1):c.502A>G (p.Ile168Val) rs112858705 0.00013
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp) rs374020067 0.00011
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln) rs200590188 0.00011
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=) rs199630108 0.00011
NM_000093.5(COL5A1):c.2677G>A (p.Ala893Thr) rs146195310 0.00011
NM_000093.5(COL5A1):c.3528+19G>T rs200672136 0.00011
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=) rs146176718 0.00011
NM_000093.5(COL5A1):c.3750C>G (p.Pro1250=) rs192806271 0.00011
NM_000093.5(COL5A1):c.4113C>T (p.Pro1371=) rs143794669 0.00011
NM_000093.5(COL5A1):c.4433C>T (p.Pro1478Leu) rs377062537 0.00011
NM_000093.5(COL5A1):c.1120G>A (p.Ala374Thr) rs370499963 0.00010
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=) rs576332528 0.00010
NM_000093.5(COL5A1):c.1428C>T (p.Pro476=) rs745633063 0.00010
NM_000093.5(COL5A1):c.1754C>T (p.Pro585Leu) rs530442560 0.00010
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754 0.00010
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828 0.00010
NM_000093.5(COL5A1):c.2038C>T (p.Pro680Ser) rs376920171 0.00010
NM_000093.5(COL5A1):c.2386-7C>T rs746845504 0.00010
NM_000093.5(COL5A1):c.2391C>T (p.Ala797=) rs142347159 0.00010
NM_000093.5(COL5A1):c.3936C>T (p.Gly1312=) rs367804791 0.00010
NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val) rs766796504 0.00010
NM_000093.5(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962 0.00009
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010 0.00009
NM_000093.5(COL5A1):c.1570-7C>T rs566717644 0.00009
NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser) rs763246328 0.00009
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met) rs777376620 0.00009
NM_000093.5(COL5A1):c.1935+12C>T rs368245632 0.00009
NM_000093.5(COL5A1):c.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.2331+15C>T rs369093559 0.00009
NM_000093.5(COL5A1):c.2844+19C>T rs370610276 0.00009
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys) rs369126350 0.00009
NM_000093.5(COL5A1):c.3007-19A>G rs370503113 0.00009
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010 0.00009
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=) rs764683617 0.00009
NM_000093.5(COL5A1):c.3491C>T (p.Pro1164Leu) rs368305377 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 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.4068+7G>A rs587780905 0.00009
NM_000093.5(COL5A1):c.4172A>G (p.Lys1391Arg) rs201801000 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.1507C>T (p.Arg503Cys) rs781485753 0.00008
NM_000093.5(COL5A1):c.2088C>T (p.Pro696=) rs146757272 0.00008
NM_000093.5(COL5A1):c.3014C>T (p.Thr1005Met) rs201220311 0.00008
NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609 0.00008
NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796 0.00008
NM_000093.5(COL5A1):c.3852+9C>T rs548696863 0.00008
NM_000093.5(COL5A1):c.4241G>C (p.Gly1414Ala) rs556167410 0.00008
NM_000093.5(COL5A1):c.4275C>T (p.Ile1425=) rs767372665 0.00008
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702 0.00008
NM_000093.5(COL5A1):c.684G>A (p.Ser228=) rs139705205 0.00008
NM_000093.5(COL5A1):c.1149C>T (p.Thr383=) rs771885855 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.3592G>A (p.Gly1198Ser) rs372499629 0.00007
NM_000093.5(COL5A1):c.4157C>T (p.Ser1386Leu) rs141605663 0.00007
NM_000093.5(COL5A1):c.4188C>T (p.Gly1396=) rs145363211 0.00007
NM_000093.5(COL5A1):c.467G>A (p.Arg156Gln) rs770896795 0.00007
NM_000093.5(COL5A1):c.65C>G (p.Pro22Arg) rs863223467 0.00007
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser) rs369781295 0.00007
NM_000093.5(COL5A1):c.934C>G (p.Pro312Ala) rs140105243 0.00007
NM_000093.5(COL5A1):c.1409C>T (p.Pro470Leu) rs746905443 0.00006
NM_000093.5(COL5A1):c.1668A>G (p.Ala556=) rs750022273 0.00006
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=) rs371345820 0.00006
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970 0.00006
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811 0.00006
NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser) rs140486644 0.00006
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=) rs139343205 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.2983C>A (p.Pro995Thr) rs187022757 0.00006
NM_000093.5(COL5A1):c.3024G>A (p.Thr1008=) rs767002656 0.00006
NM_000093.5(COL5A1):c.3205-18C>G rs199557977 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 0.00006
NM_000093.5(COL5A1):c.3258G>A (p.Ala1086=) rs372844807 0.00006
NM_000093.5(COL5A1):c.3465C>T (p.Asp1155=) rs145134399 0.00006
NM_000093.5(COL5A1):c.3510G>A (p.Lys1170=) rs543950268 0.00006
NM_000093.5(COL5A1):c.3600G>A (p.Pro1200=) rs187345008 0.00006
NM_000093.5(COL5A1):c.3780C>T (p.Ser1260=) rs150591401 0.00006
NM_000093.5(COL5A1):c.3906+11G>A rs372939968 0.00006
NM_000093.5(COL5A1):c.3906+14C>T rs377136680 0.00006
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676 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.447G>A (p.Pro149=) rs200290973 0.00006
NM_000093.5(COL5A1):c.753C>T (p.Thr251=) rs374813957 0.00006
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu) rs144844792 0.00006
NM_000093.5(COL5A1):c.791C>T (p.Thr264Met) rs148548209 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000093.5(COL5A1):c.936G>A (p.Pro312=) rs150364815 0.00006
NM_000093.5(COL5A1):c.1143C>T (p.Ala381=) rs200245996 0.00005
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.1896C>T (p.Phe632=) rs376478864 0.00005
NM_000093.5(COL5A1):c.1971G>A (p.Pro657=) rs981088114 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.2034C>T (p.Pro678=) rs373100663 0.00005
NM_000093.5(COL5A1):c.2097G>A (p.Thr699=) rs368590323 0.00005
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=) rs377123592 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.2722C>T (p.Pro908Ser) rs144985214 0.00005
NM_000093.5(COL5A1):c.28C>T (p.Arg10Cys) rs1457110544 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.3398G>A (p.Arg1133Gln) rs759580799 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.65C>A (p.Pro22Gln) rs863223467 0.00005
NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser) rs150837465 0.00004
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu) rs370311038 0.00004
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00004
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val) rs144269434 0.00004
NM_000093.5(COL5A1):c.1346G>A (p.Arg449Gln) rs778297413 0.00004
NM_000093.5(COL5A1):c.1372C>T (p.Pro458Ser) rs537950589 0.00004
NM_000093.5(COL5A1):c.145C>T (p.His49Tyr) rs372168541 0.00004
NM_000093.5(COL5A1):c.1527C>T (p.Ala509=) rs746510456 0.00004
NM_000093.5(COL5A1):c.1528G>A (p.Asp510Asn) rs374204025 0.00004
NM_000093.5(COL5A1):c.1569+19C>T rs373086315 0.00004
NM_000093.5(COL5A1):c.1569C>T (p.Pro523=) rs138803413 0.00004
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val) rs369000939 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.2268C>T (p.Pro756=) rs367755808 0.00004
NM_000093.5(COL5A1):c.2285C>T (p.Pro762Leu) rs138259992 0.00004
NM_000093.5(COL5A1):c.2286G>A (p.Pro762=) rs766817444 0.00004
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229 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.2997C>T (p.Val999=) rs201897490 0.00004
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707 0.00004
NM_000093.5(COL5A1):c.3987C>T (p.Pro1329=) rs770802769 0.00004
NM_000093.5(COL5A1):c.4044C>T (p.Gly1348=) rs369945188 0.00004
NM_000093.5(COL5A1):c.4123-20G>A rs751725995 0.00004
NM_000093.5(COL5A1):c.4155A>G (p.Pro1385=) rs1476164063 0.00004
NM_000093.5(COL5A1):c.4231-19G>T rs1002531122 0.00004
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=) rs201335857 0.00004
NM_000093.5(COL5A1):c.4375G>A (p.Gly1459Ser) rs183114696 0.00004
NM_000093.5(COL5A1):c.446C>T (p.Pro149Leu) rs369971694 0.00004
NM_000093.5(COL5A1):c.476A>G (p.Asn159Ser) rs551016059 0.00004
NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu) rs770737485 0.00004
NM_000093.5(COL5A1):c.945G>A (p.Thr315=) rs149123775 0.00004
NM_000093.5(COL5A1):c.997G>A (p.Val333Ile) rs762624092 0.00004
NM_000093.5(COL5A1):c.1075G>A (p.Glu359Lys) rs769752636 0.00003
NM_000093.5(COL5A1):c.1114G>A (p.Ala372Thr) rs755289850 0.00003
NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr) rs762108965 0.00003
NM_000093.5(COL5A1):c.1252G>C (p.Asp418His) rs767752804 0.00003
NM_000093.5(COL5A1):c.1263C>T (p.Tyr421=) rs373846823 0.00003
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala) rs535363331 0.00003
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu) rs772379819 0.00003
NM_000093.5(COL5A1):c.1587C>T (p.Gly529=) rs529255491 0.00003
NM_000093.5(COL5A1):c.1827+11C>T rs374795810 0.00003
NM_000093.5(COL5A1):c.192G>A (p.Thr64=) rs746717050 0.00003
NM_000093.5(COL5A1):c.2035-10C>T rs754111650 0.00003
NM_000093.5(COL5A1):c.2042G>A (p.Arg681His) rs371580094 0.00003
NM_000093.5(COL5A1):c.2079C>T (p.Pro693=) rs186098435 0.00003
NM_000093.5(COL5A1):c.212C>T (p.Pro71Leu) rs779540528 0.00003
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171 0.00003
NM_000093.5(COL5A1):c.2386-6G>A rs373383768 0.00003
NM_000093.5(COL5A1):c.2415C>T (p.Gly805=) rs769239532 0.00003
NM_000093.5(COL5A1):c.2430+7C>A rs569413440 0.00003
NM_000093.5(COL5A1):c.2484+6C>T rs576976549 0.00003
NM_000093.5(COL5A1):c.2542C>T (p.Arg848Cys) rs762336160 0.00003
NM_000093.5(COL5A1):c.2706C>T (p.Thr902=) rs781027757 0.00003
NM_000093.5(COL5A1):c.2726G>A (p.Arg909Gln) rs747046727 0.00003
NM_000093.5(COL5A1):c.2899-13G>T rs761096695 0.00003
NM_000093.5(COL5A1):c.2905C>G (p.Pro969Ala) rs759627305 0.00003
NM_000093.5(COL5A1):c.2946C>T (p.Gly982=) rs1060502253 0.00003
NM_000093.5(COL5A1):c.2991C>T (p.Gly997=) rs766208976 0.00003
NM_000093.5(COL5A1):c.3086C>T (p.Pro1029Leu) rs768531108 0.00003
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517 0.00003
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=) rs760754491 0.00003
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206 0.00003
NM_000093.5(COL5A1):c.3529-4G>A rs779064113 0.00003
NM_000093.5(COL5A1):c.3564C>A (p.Ile1188=) rs766961124 0.00003
NM_000093.5(COL5A1):c.3745-17T>C rs376808101 0.00003
NM_000093.5(COL5A1):c.3770G>A (p.Arg1257Gln) rs141768094 0.00003
NM_000093.5(COL5A1):c.3786T>G (p.Ala1262=) rs1233949819 0.00003
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu) rs140244245 0.00003
NM_000093.5(COL5A1):c.3864C>T (p.Gly1288=) rs551695730 0.00003
NM_000093.5(COL5A1):c.3887C>T (p.Pro1296Leu) rs771130127 0.00003
NM_000093.5(COL5A1):c.3912C>T (p.Pro1304=) rs773909152 0.00003
NM_000093.5(COL5A1):c.4069-16G>A rs201267375 0.00003
NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala) rs749162303 0.00003
NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr) rs759464073 0.00003
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663 0.00003
NM_000093.5(COL5A1):c.4386C>T (p.Gly1462=) rs759256816 0.00003
NM_000093.5(COL5A1):c.4392+8A>G rs764596365 0.00003
NM_000093.5(COL5A1):c.513C>T (p.Ser171=) rs754997436 0.00003
NM_000093.5(COL5A1):c.603C>T (p.Ile201=) rs747624923 0.00003
NM_000093.5(COL5A1):c.615C>A (p.Ile205=) rs201286195 0.00003
NM_000093.5(COL5A1):c.654+11G>A rs750385038 0.00003
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu) rs570691491 0.00003
NM_000093.5(COL5A1):c.700T>C (p.Tyr234His) rs757434449 0.00003
NM_000093.5(COL5A1):c.735C>T (p.Asp245=) rs746769184 0.00003
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr) rs769115550 0.00003
NM_000093.5(COL5A1):c.774T>C (p.Asn258=) rs199742873 0.00003
NM_000093.5(COL5A1):c.1122C>T (p.Ala374=) rs758640551 0.00002
NM_000093.5(COL5A1):c.1144G>A (p.Asp382Asn) rs148288567 0.00002
NM_000093.5(COL5A1):c.1147A>G (p.Thr383Ala) rs747758069 0.00002
NM_000093.5(COL5A1):c.1190C>T (p.Ala397Val) rs537424110 0.00002
NM_000093.5(COL5A1):c.1208A>T (p.Glu403Val) rs752746395 0.00002
NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys) rs763456705 0.00002
NM_000093.5(COL5A1):c.1284G>A (p.Ser428=) rs745575705 0.00002
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg) rs962170388 0.00002
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=) rs373460629 0.00002
NM_000093.5(COL5A1):c.1332+20C>T rs935688642 0.00002
NM_000093.5(COL5A1):c.1351G>A (p.Glu451Lys) rs755546104 0.00002
NM_000093.5(COL5A1):c.1388C>T (p.Pro463Leu) rs201375465 0.00002
NM_000093.5(COL5A1):c.1431+10C>T rs1176378428 0.00002
NM_000093.5(COL5A1):c.1431+11G>A rs768116740 0.00002
NM_000093.5(COL5A1):c.1495-3C>T rs943808454 0.00002
NM_000093.5(COL5A1):c.1508G>A (p.Arg503His) rs146716315 0.00002
NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln) rs375762619 0.00002
NM_000093.5(COL5A1):c.1591G>A (p.Asp531Asn) rs779170635 0.00002
NM_000093.5(COL5A1):c.170A>G (p.Lys57Arg) rs1131691360 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.187G>A (p.Ala63Thr) rs749697867 0.00002
NM_000093.5(COL5A1):c.1882-20C>G rs774254944 0.00002
NM_000093.5(COL5A1):c.1899C>T (p.Asp633=) rs757951119 0.00002
NM_000093.5(COL5A1):c.2088+15C>T rs896840592 0.00002
NM_000093.5(COL5A1):c.2133+18C>T rs751486483 0.00002
NM_000093.5(COL5A1):c.217G>A (p.Val73Ile) rs148793863 0.00002
NM_000093.5(COL5A1):c.2483G>A (p.Arg828Gln) rs781317910 0.00002
NM_000093.5(COL5A1):c.2508C>T (p.Pro836=) rs373285312 0.00002
NM_000093.5(COL5A1):c.2526T>C (p.Pro842=) rs763634004 0.00002
NM_000093.5(COL5A1):c.2601C>T (p.Leu867=) rs767014646 0.00002
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys) rs758475317 0.00002
NM_000093.5(COL5A1):c.2646+18T>A rs754790166 0.00002
NM_000093.5(COL5A1):c.2694C>T (p.Gly898=) rs139394549 0.00002
NM_000093.5(COL5A1):c.2708C>T (p.Pro903Leu) rs780406577 0.00002
NM_000093.5(COL5A1):c.2715G>A (p.Lys905=) rs533217850 0.00002
NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865 0.00002
NM_000093.5(COL5A1):c.2808C>T (p.Ser936=) rs142849628 0.00002
NM_000093.5(COL5A1):c.2895C>G (p.Pro965=) rs765189446 0.00002
NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246 0.00002
NM_000093.5(COL5A1):c.2952+9C>T rs955068180 0.00002
NM_000093.5(COL5A1):c.3040C>T (p.Arg1014Cys) rs780601499 0.00002
NM_000093.5(COL5A1):c.3041G>A (p.Arg1014His) rs754184016 0.00002
NM_000093.5(COL5A1):c.3258+7C>A rs750710374 0.00002
NM_000093.5(COL5A1):c.3366+18T>C rs751538872 0.00002
NM_000093.5(COL5A1):c.3483C>T (p.Ile1161=) rs576483507 0.00002
NM_000093.5(COL5A1):c.3599C>T (p.Pro1200Leu) rs781363147 0.00002
NM_000093.5(COL5A1):c.3627C>T (p.Phe1209=) rs748000980 0.00002
NM_000093.5(COL5A1):c.3732C>T (p.Asp1244=) rs377422775 0.00002
NM_000093.5(COL5A1):c.3753G>A (p.Pro1251=) rs779638584 0.00002
NM_000093.5(COL5A1):c.3774A>G (p.Gly1258=) rs938941709 0.00002
NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe) rs762625123 0.00002
NM_000093.5(COL5A1):c.3852+3G>A rs1220391738 0.00002
NM_000093.5(COL5A1):c.3856G>A (p.Glu1286Lys) rs149717587 0.00002
NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=) rs745918663 0.00002
NM_000093.5(COL5A1):c.3898G>A (p.Gly1300Ser) rs769814019 0.00002
NM_000093.5(COL5A1):c.3906+7G>A rs200333878 0.00002
NM_000093.5(COL5A1):c.3960C>T (p.Ala1320=) rs1057524173 0.00002
NM_000093.5(COL5A1):c.3975C>T (p.Pro1325=) rs951777673 0.00002
NM_000093.5(COL5A1):c.4131C>T (p.Pro1377=) rs145101509 0.00002
NM_000093.5(COL5A1):c.420C>T (p.Tyr140=) rs540553997 0.00002
NM_000093.5(COL5A1):c.4319G>A (p.Arg1440Gln) rs758650140 0.00002
NM_000093.5(COL5A1):c.4378C>A (p.Pro1460Thr) rs773125713 0.00002
NM_000093.5(COL5A1):c.526A>C (p.Asn176His) rs369396868 0.00002
NM_000093.5(COL5A1):c.528T>C (p.Asn176=) rs769674770 0.00002
NM_000093.5(COL5A1):c.52C>T (p.Pro18Ser) rs1060502260 0.00002
NM_000093.5(COL5A1):c.57G>A (p.Leu19=) rs761259908 0.00002
NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn) rs781248560 0.00002
NM_000093.5(COL5A1):c.655-16G>A rs371301230 0.00002
NM_000093.5(COL5A1):c.1000G>A (p.Gly334Ser) rs751277764 0.00001
NM_000093.5(COL5A1):c.1005C>T (p.Ile335=) rs761397885 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.1067C>T (p.Thr356Ile) rs777844099 0.00001
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=) rs561440698 0.00001
NM_000093.5(COL5A1):c.1093G>A (p.Asp365Asn) rs1420950002 0.00001
NM_000093.5(COL5A1):c.1119G>A (p.Gly373=) rs1060504528 0.00001
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys) rs777789161 0.00001
NM_000093.5(COL5A1):c.1131C>T (p.Pro377=) rs747058182 0.00001
NM_000093.5(COL5A1):c.1134C>T (p.Thr378=) rs373594322 0.00001
NM_000093.5(COL5A1):c.1140C>T (p.Thr380=) rs749315207 0.00001
NM_000093.5(COL5A1):c.1141G>A (p.Ala381Thr) rs768269251 0.00001
NM_000093.5(COL5A1):c.1157C>T (p.Ser386Phe) rs773041897 0.00001
NM_000093.5(COL5A1):c.1172C>T (p.Pro391Leu) rs373102877 0.00001
NM_000093.5(COL5A1):c.1175C>T (p.Pro392Leu) rs1290737803 0.00001
NM_000093.5(COL5A1):c.1229G>A (p.Arg410Gln) rs769244075 0.00001
NM_000093.5(COL5A1):c.1230G>A (p.Arg410=) rs1272170006 0.00001
NM_000093.5(COL5A1):c.1239C>T (p.Asp413=) rs775974461 0.00001
NM_000093.5(COL5A1):c.1251C>T (p.Tyr417=) rs746576822 0.00001
NM_000093.5(COL5A1):c.1264G>C (p.Asp422His) rs760798318 0.00001
NM_000093.5(COL5A1):c.1272C>A (p.Thr424=) rs758427503 0.00001
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133 0.00001
NM_000093.5(COL5A1):c.1308G>A (p.Ala436=) rs200959477 0.00001
NM_000093.5(COL5A1):c.1332+4dup rs886063674 0.00001
NM_000093.5(COL5A1):c.1333-7C>T rs767294965 0.00001
NM_000093.5(COL5A1):c.1340G>A (p.Gly447Glu) rs753549769 0.00001
NM_000093.5(COL5A1):c.1389+14C>T rs1219979772 0.00001
NM_000093.5(COL5A1):c.1389+7A>T rs1281999280 0.00001
NM_000093.5(COL5A1):c.1389G>A (p.Pro463=) rs1057518771 0.00001
NM_000093.5(COL5A1):c.1390-18C>T rs1323115421 0.00001
NM_000093.5(COL5A1):c.1401C>T (p.Ile467=) rs1452745305 0.00001
NM_000093.5(COL5A1):c.1430C>T (p.Ala477Val) rs763650548 0.00001
NM_000093.5(COL5A1):c.1431+20C>A rs766773815 0.00001
NM_000093.5(COL5A1):c.1462C>T (p.Pro488Ser) rs1238395732 0.00001
NM_000093.5(COL5A1):c.1497C>T (p.Gly499=) rs1473955537 0.00001
NM_000093.5(COL5A1):c.1499C>T (p.Pro500Leu) rs778866843 0.00001
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val) rs535161301 0.00001
NM_000093.5(COL5A1):c.1570-10A>T rs530036079 0.00001
NM_000093.5(COL5A1):c.1638G>A (p.Ala546=) rs775508023 0.00001
NM_000093.5(COL5A1):c.1657G>A (p.Ala553Thr) rs761717025 0.00001
NM_000093.5(COL5A1):c.1663-10T>C rs767306262 0.00001
NM_000093.5(COL5A1):c.1674G>A (p.Arg558=) rs746502968 0.00001
NM_000093.5(COL5A1):c.1678C>G (p.Pro560Ala) rs1321926947 0.00001
NM_000093.5(COL5A1):c.16C>G (p.Arg6Gly) rs1460929040 0.00001
NM_000093.5(COL5A1):c.1701A>C (p.Thr567=) rs143647239 0.00001
NM_000093.5(COL5A1):c.1717G>A (p.Val573Met) rs1304946894 0.00001
NM_000093.5(COL5A1):c.1720-11T>A rs863223444 0.00001
NM_000093.5(COL5A1):c.1750G>A (p.Glu584Lys) rs764609002 0.00001
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=) rs376865199 0.00001
NM_000093.5(COL5A1):c.1755G>A (p.Pro585=) rs779658584 0.00001
NM_000093.5(COL5A1):c.1761C>T (p.Asp587=) rs974596853 0.00001
NM_000093.5(COL5A1):c.1797G>A (p.Pro599=) rs201463583 0.00001
NM_000093.5(COL5A1):c.1805C>T (p.Pro602Leu) rs749007253 0.00001
NM_000093.5(COL5A1):c.1825C>T (p.Arg609Trp) rs772579783 0.00001
NM_000093.5(COL5A1):c.1828-3C>G rs369608154 0.00001
NM_000093.5(COL5A1):c.186C>T (p.Cys62=) rs778516121 0.00001
NM_000093.5(COL5A1):c.1882-4G>T rs1253885983 0.00001
NM_000093.5(COL5A1):c.1900G>A (p.Gly634Ser) rs183627101 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.1943C>G (p.Pro648Arg) rs143211526 0.00001
NM_000093.5(COL5A1):c.1978G>A (p.Asp660Asn) rs990265730 0.00001
NM_000093.5(COL5A1):c.197G>A (p.Arg66Gln) rs146074704 0.00001
NM_000093.5(COL5A1):c.1989+15G>A rs765969450 0.00001
NM_000093.5(COL5A1):c.1989+4G>A rs1307138217 0.00001
NM_000093.5(COL5A1):c.198A>C (p.Arg66=) rs1463204835 0.00001
NM_000093.5(COL5A1):c.1990-12T>C rs776163211 0.00001
NM_000093.5(COL5A1):c.1995C>T (p.Asp665=) rs765776659 0.00001
NM_000093.5(COL5A1):c.2002G>A (p.Glu668Lys) rs764603796 0.00001
NM_000093.5(COL5A1):c.2019G>T (p.Gly673=) rs139822656 0.00001
NM_000093.5(COL5A1):c.2057C>T (p.Pro686Leu) rs775102627 0.00001
NM_000093.5(COL5A1):c.2066C>T (p.Pro689Leu) rs1389473144 0.00001
NM_000093.5(COL5A1):c.2073T>A (p.Gly691=) rs1037184070 0.00001
NM_000093.5(COL5A1):c.2133+9C>T rs765287192 0.00001
NM_000093.5(COL5A1):c.214G>A (p.Asp72Asn) rs376115028 0.00001
NM_000093.5(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655 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.2222C>T (p.Pro741Leu) rs1422097890 0.00001
NM_000093.5(COL5A1):c.2226A>G (p.Gly742=) rs1338817325 0.00001
NM_000093.5(COL5A1):c.2238C>T (p.Pro746=) rs373617798 0.00001
NM_000093.5(COL5A1):c.2264T>G (p.Met755Arg) rs769653444 0.00001
NM_000093.5(COL5A1):c.2269G>A (p.Gly757Ser) rs1464394247 0.00001
NM_000093.5(COL5A1):c.2282C>T (p.Pro761Leu) rs150434732 0.00001
NM_000093.5(COL5A1):c.2331+11G>A rs753145256 0.00001
NM_000093.5(COL5A1):c.2331+4G>A rs1588532335 0.00001
NM_000093.5(COL5A1):c.2343C>T (p.Gly781=) rs1384349031 0.00001
NM_000093.5(COL5A1):c.2382C>T (p.Val794=) rs758190171 0.00001
NM_000093.5(COL5A1):c.2385+15C>T rs937874882 0.00001
NM_000093.5(COL5A1):c.2388G>T (p.Gly796=) rs1432407799 0.00001
NM_000093.5(COL5A1):c.2390C>T (p.Ala797Val) rs745370910 0.00001
NM_000093.5(COL5A1):c.2425G>A (p.Glu809Lys) rs1032017865 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.2464A>G (p.Met822Val) rs1060502262 0.00001
NM_000093.5(COL5A1):c.2485-11C>T rs756350498 0.00001
NM_000093.5(COL5A1):c.2485-18C>T rs757531928 0.00001
NM_000093.5(COL5A1):c.2501C>T (p.Pro834Leu) rs558752105 0.00001
NM_000093.5(COL5A1):c.2527G>C (p.Glu843Gln) rs1837405294 0.00001
NM_000093.5(COL5A1):c.2538G>A (p.Lys846=) rs751065864 0.00001
NM_000093.5(COL5A1):c.253G>A (p.Ala85Thr) rs756903629 0.00001
NM_000093.5(COL5A1):c.2543G>A (p.Arg848His) rs767925708 0.00001
NM_000093.5(COL5A1):c.256C>T (p.Pro86Ser) rs1277995091 0.00001
NM_000093.5(COL5A1):c.2580C>A (p.Pro860=) rs762553184 0.00001
NM_000093.5(COL5A1):c.2593-14C>G rs771529245 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.2653A>G (p.Ile885Val) rs781756159 0.00001
NM_000093.5(COL5A1):c.2681A>G (p.Asn894Ser) rs542939338 0.00001
NM_000093.5(COL5A1):c.2696G>T (p.Gly899Val) rs759338898 0.00001
NM_000093.5(COL5A1):c.2701-12C>G rs751422216 0.00001
NM_000093.5(COL5A1):c.2709T>C (p.Pro903=) rs749844592 0.00001
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu) rs772211736 0.00001
NM_000093.5(COL5A1):c.2725C>T (p.Arg909Trp) rs1257715072 0.00001
NM_000093.5(COL5A1):c.2739C>T (p.Gly913=) rs1449725761 0.00001
NM_000093.5(COL5A1):c.2744C>T (p.Thr915Met) rs771090557 0.00001
NM_000093.5(COL5A1):c.2746-5T>C rs777834778 0.00001
NM_000093.5(COL5A1):c.277+10G>T rs774861340 0.00001
NM_000093.5(COL5A1):c.277+20G>C rs772363522 0.00001
NM_000093.5(COL5A1):c.277+9C>T rs748589808 0.00001
NM_000093.5(COL5A1):c.2770C>T (p.Arg924Trp) rs1472700264 0.00001
NM_000093.5(COL5A1):c.2771G>A (p.Arg924Gln) rs768711320 0.00001
NM_000093.5(COL5A1):c.2784G>A (p.Gly928=) rs774491536 0.00001
NM_000093.5(COL5A1):c.2800-17del rs1168930103 0.00001
NM_000093.5(COL5A1):c.2812G>C (p.Gly938Arg) rs751950836 0.00001
NM_000093.5(COL5A1):c.2817C>T (p.Asp939=) rs750716466 0.00001
NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874 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.2847A>T (p.Gly949=) rs898479012 0.00001
NM_000093.5(COL5A1):c.2880T>G (p.Pro960=) rs560755167 0.00001
NM_000093.5(COL5A1):c.2883A>G (p.Gly961=) rs1244102860 0.00001
NM_000093.5(COL5A1):c.2898+20C>T rs781174331 0.00001
NM_000093.5(COL5A1):c.289C>T (p.Pro97Ser) rs1189111524 0.00001
NM_000093.5(COL5A1):c.2907A>G (p.Pro969=) rs1281296909 0.00001
NM_000093.5(COL5A1):c.2951C>G (p.Thr984Ser) rs1205167823 0.00001
NM_000093.5(COL5A1):c.295G>T (p.Asp99Tyr) rs774095835 0.00001
NM_000093.5(COL5A1):c.2967G>A (p.Lys989=) rs1838131061 0.00001
NM_000093.5(COL5A1):c.2971G>A (p.Gly991Ser) rs777368013 0.00001
NM_000093.5(COL5A1):c.2985C>T (p.Pro995=) rs768883188 0.00001
NM_000093.5(COL5A1):c.298T>G (p.Phe100Val) rs761639579 0.00001
NM_000093.5(COL5A1):c.2992G>A (p.Val998Met) rs776676564 0.00001
NM_000093.5(COL5A1):c.3006+11G>A rs749946777 0.00001
NM_000093.5(COL5A1):c.3059C>T (p.Pro1020Leu) rs1001786208 0.00001
NM_000093.5(COL5A1):c.3064C>T (p.Pro1022Ser) rs536758248 0.00001
NM_000093.5(COL5A1):c.3082C>T (p.Leu1028Phe) rs762810181 0.00001
NM_000093.5(COL5A1):c.3096T>A (p.Ala1032=) rs140590510 0.00001
NM_000093.5(COL5A1):c.3099A>G (p.Gly1033=) rs1016663584 0.00001
NM_000093.5(COL5A1):c.3112A>G (p.Lys1038Glu) rs766852875 0.00001
NM_000093.5(COL5A1):c.3120C>T (p.Asp1040=) rs1216403908 0.00001
NM_000093.5(COL5A1):c.3166C>T (p.Arg1056Cys) rs367905915 0.00001
NM_000093.5(COL5A1):c.3167G>A (p.Arg1056His) rs778769810 0.00001
NM_000093.5(COL5A1):c.3227A>G (p.Asn1076Ser) rs1838252619 0.00001
NM_000093.5(COL5A1):c.3235C>T (p.Pro1079Ser) rs763310793 0.00001
NM_000093.5(COL5A1):c.324C>T (p.Ala108=) rs765929345 0.00001
NM_000093.5(COL5A1):c.3294T>C (p.Ala1098=) rs949276689 0.00001
NM_000093.5(COL5A1):c.3296G>C (p.Gly1099Ala) rs1315080321 0.00001
NM_000093.5(COL5A1):c.3299C>T (p.Pro1100Leu) rs564375308 0.00001
NM_000093.5(COL5A1):c.3326C>A (p.Pro1109His) rs1482501113 0.00001
NM_000093.5(COL5A1):c.3330G>A (p.Gln1110=) rs1461218386 0.00001
NM_000093.5(COL5A1):c.3341G>C (p.Gly1114Ala) rs926426117 0.00001
NM_000093.5(COL5A1):c.3344C>T (p.Pro1115Leu) rs139039658 0.00001
NM_000093.5(COL5A1):c.3346G>T (p.Ala1116Ser) rs1838294621 0.00001
NM_000093.5(COL5A1):c.3361G>C (p.Ala1121Pro) rs863223449 0.00001
NM_000093.5(COL5A1):c.3366+11C>T rs863223438 0.00001
NM_000093.5(COL5A1):c.3367-16C>G rs1166753078 0.00001
NM_000093.5(COL5A1):c.3441C>A (p.Gly1147=) rs755982747 0.00001
NM_000093.5(COL5A1):c.3453C>T (p.Pro1151=) rs753485525 0.00001
NM_000093.5(COL5A1):c.3492G>A (p.Pro1164=) rs774312418 0.00001
NM_000093.5(COL5A1):c.3528+12C>T rs927953209 0.00001
NM_000093.5(COL5A1):c.3528+15G>A rs541481267 0.00001
NM_000093.5(COL5A1):c.3529-5C>T rs755227263 0.00001
NM_000093.5(COL5A1):c.3545C>T (p.Thr1182Ile) rs1057524867 0.00001
NM_000093.5(COL5A1):c.354C>T (p.Ser118=) rs748711211 0.00001
NM_000093.5(COL5A1):c.3551C>T (p.Pro1184Leu) rs749093832 0.00001
NM_000093.5(COL5A1):c.3582+20G>T rs375930756 0.00001
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079 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.364G>A (p.Glu122Lys) rs1588448757 0.00001
NM_000093.5(COL5A1):c.3654A>G (p.Arg1218=) rs1330978908 0.00001
NM_000093.5(COL5A1):c.3656G>C (p.Gly1219Ala) rs1564475073 0.00001
NM_000093.5(COL5A1):c.3669C>T (p.Pro1223=) rs770392149 0.00001
NM_000093.5(COL5A1):c.368A>G (p.Gln123Arg) rs771075651 0.00001
NM_000093.5(COL5A1):c.370G>A (p.Gly124Ser) rs1356081271 0.00001
NM_000093.5(COL5A1):c.3733G>A (p.Val1245Met) rs1435045393 0.00001
NM_000093.5(COL5A1):c.3744+12T>G rs750453604 0.00001
NM_000093.5(COL5A1):c.3745-20T>A rs760842092 0.00001
NM_000093.5(COL5A1):c.3771A>G (p.Arg1257=) rs1042269053 0.00001
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu) rs771146636 0.00001
NM_000093.5(COL5A1):c.3852+10G>A rs749190469 0.00001
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451 0.00001
NM_000093.5(COL5A1):c.3900C>T (p.Gly1300=) rs879205988 0.00001
NM_000093.5(COL5A1):c.3921A>G (p.Glu1307=) rs1322220087 0.00001
NM_000093.5(COL5A1):c.3933G>A (p.Lys1311=) rs1331038066 0.00001
NM_000093.5(COL5A1):c.3947C>G (p.Pro1316Arg) rs371550819 0.00001
NM_000093.5(COL5A1):c.3961G>A (p.Gly1321Arg) rs1034436638 0.00001
NM_000093.5(COL5A1):c.4011C>T (p.Ser1337=) rs1363178603 0.00001
NM_000093.5(COL5A1):c.4015-19C>T rs527971001 0.00001
NM_000093.5(COL5A1):c.4069-4A>G rs377325113 0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NM_000093.5(COL5A1):c.4176+19A>C rs746397034 0.00001
NM_000093.5(COL5A1):c.4177-8T>A rs1838818747 0.00001
NM_000093.5(COL5A1):c.4180C>T (p.Pro1394Ser) rs761962890 0.00001
NM_000093.5(COL5A1):c.4198C>T (p.Pro1400Ser) rs765217611 0.00001
NM_000093.5(COL5A1):c.4201G>A (p.Glu1401Lys) rs1370262542 0.00001
NM_000093.5(COL5A1):c.4231-10C>T rs772316957 0.00001
NM_000093.5(COL5A1):c.4231-13C>T rs558048358 0.00001
NM_000093.5(COL5A1):c.4234G>A (p.Glu1412Lys) rs376893441 0.00001
NM_000093.5(COL5A1):c.4267G>A (p.Gly1423Ser) rs370151534 0.00001
NM_000093.5(COL5A1):c.4276G>A (p.Gly1426Ser) rs374868484 0.00001
NM_000093.5(COL5A1):c.427C>A (p.His143Asn) rs863223465 0.00001
NM_000093.5(COL5A1):c.4289C>G (p.Ala1430Gly) rs765920886 0.00001
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=) rs755495352 0.00001
NM_000093.5(COL5A1):c.4333C>T (p.Pro1445Ser) rs757989702 0.00001
NM_000093.5(COL5A1):c.4338+18G>C rs781247782 0.00001
NM_000093.5(COL5A1):c.4345C>A (p.Gln1449Lys) rs1838876394 0.00001
NM_000093.5(COL5A1):c.4351C>G (p.Leu1451Val) rs369740453 0.00001
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250 0.00001
NM_000093.5(COL5A1):c.4371G>A (p.Pro1457=) rs756096066 0.00001
NM_000093.5(COL5A1):c.4392+16C>T rs763448522 0.00001
NM_000093.5(COL5A1):c.4411G>A (p.Gly1471Ser) rs750864661 0.00001
NM_000093.5(COL5A1):c.4446+16C>T rs1392869887 0.00001
NM_000093.5(COL5A1):c.456C>T (p.Tyr152=) rs1833616245 0.00001
NM_000093.5(COL5A1):c.458C>A (p.Pro153His) rs771925785 0.00001
NM_000093.5(COL5A1):c.460C>T (p.Leu154Phe) rs1554781521 0.00001
NM_000093.5(COL5A1):c.474C>T (p.Ile158=) rs372769772 0.00001
NM_000093.5(COL5A1):c.487G>A (p.Gly163Ser) rs764543567 0.00001
NM_000093.5(COL5A1):c.492-16A>G rs775028310 0.00001
NM_000093.5(COL5A1):c.492-3C>T rs1027866868 0.00001
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val) rs188120737 0.00001
NM_000093.5(COL5A1):c.540C>A (p.Ile180=) rs374994926 0.00001
NM_000093.5(COL5A1):c.543C>T (p.Leu181=) rs368485498 0.00001
NM_000093.5(COL5A1):c.544G>A (p.Asp182Asn) rs761005141 0.00001
NM_000093.5(COL5A1):c.551A>G (p.Lys184Arg) rs1833662587 0.00001
NM_000093.5(COL5A1):c.577C>T (p.Arg193Cys) rs765170704 0.00001
NM_000093.5(COL5A1):c.582C>T (p.Ser194=) rs563191799 0.00001
NM_000093.5(COL5A1):c.595A>G (p.Ile199Val) rs1041369357 0.00001
NM_000093.5(COL5A1):c.609C>T (p.Gly203=) rs146054551 0.00001
NM_000093.5(COL5A1):c.610A>G (p.Ile204Val) rs1060502245 0.00001
NM_000093.5(COL5A1):c.629G>A (p.Arg210Gln) rs1382944823 0.00001
NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp) rs775853003 0.00001
NM_000093.5(COL5A1):c.692G>A (p.Arg231Gln) rs373597685 0.00001
NM_000093.5(COL5A1):c.702T>C (p.Tyr234=) rs767696801 0.00001
NM_000093.5(COL5A1):c.713A>G (p.Glu238Gly) rs1433120962 0.00001
NM_000093.5(COL5A1):c.723C>T (p.Ser241=) rs1554787555 0.00001
NM_000093.5(COL5A1):c.727G>A (p.Asp243Asn) rs758431206 0.00001
NM_000093.5(COL5A1):c.756A>C (p.Pro252=) rs1030582099 0.00001
NM_000093.5(COL5A1):c.762G>T (p.Ser254=) rs767928508 0.00001
NM_000093.5(COL5A1):c.786+11T>G rs766319028 0.00001
NM_000093.5(COL5A1):c.787-9C>G rs751472921 0.00001
NM_000093.5(COL5A1):c.790A>C (p.Thr264Pro) rs863223440 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.82C>A (p.Leu28Met) rs1312200383 0.00001
NM_000093.5(COL5A1):c.846C>T (p.Asp282=) rs775736911 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.901A>G (p.Lys301Glu) rs1445863121 0.00001
NM_000093.5(COL5A1):c.964G>A (p.Glu322Lys) rs199857770 0.00001
NM_000093.5(COL5A1):c.987G>A (p.Lys329=) rs769516996 0.00001
NC_000009.11:g.(?_137533651)_(137534142_?)dup
NC_000009.11:g.(?_137534024)_(137620663_?)del
NC_000009.11:g.(?_137534028)_(137534148_?)dup
NC_000009.11:g.(?_137534034)_(137582945_?)del
NC_000009.11:g.(?_137534034)_(137630674_?)dup
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NC_000009.11:g.(?_137582748)_(137677904_?)del
NC_000009.11:g.(?_137591735)_(137593199_?)del
NC_000009.11:g.(?_137593011)_(137727056_?)del
NC_000009.11:g.(?_137619102)_(137619253_?)del
NC_000009.11:g.(?_137619102)_(137698152_?)dup
NC_000009.11:g.(?_137623322)_(137623993_?)del
NC_000009.11:g.(?_137645560)_137650136del
NC_000009.11:g.(?_137664616)_(137734149_?)del
NC_000009.11:g.(?_137676815)_(137677914_?)del
NC_000009.11:g.(?_137703323)_(137734200_?)del
NC_000009.11:g.(?_137709604)_(137717770_?)del
NC_000009.11:g.(?_137733983)_(137734149_?)del
NC_000009.12:g.(?_134642178)_(134701343_?)del
NC_000009.12:g.(?_134690892)_(134691099_?)del
NC_000009.12:g.(?_134690892)_(134763757_?)del
NC_000009.12:g.(?_134690902)_(134727407_?)del
NC_000009.12:g.(?_134699889)_(134700142_?)del
NC_000009.12:g.(?_134727246)_(134728827_?)del
NC_000009.12:g.(?_134752569)_(134752665_?)del
NC_000009.12:g.(?_134782657)_(134842313_?)del
NC_000009.12:g.(?_134789143)_(134789218_?)dup
NC_000009.12:g.(?_134842147)_(134842313_?)del
NC_000009.12:g.134765683del
NM_000093.4(COL5A1):c.2389delG rs1564453833
NM_000093.4(COL5A1):c.2594dup rs1837444858
NM_000093.4(COL5A1):c.3746delG rs35002351
NM_000093.4(COL5A1):c.4232delG rs1060502259
NM_000093.5(COL5A1):c.1006G>A (p.Gly336Arg)
NM_000093.5(COL5A1):c.1008G>A (p.Gly336=) rs2132639237
NM_000093.5(COL5A1):c.1011C>G (p.Asp337Glu) rs1834832160
NM_000093.5(COL5A1):c.1013A>G (p.Tyr338Cys)
NM_000093.5(COL5A1):c.1020C>T (p.Tyr340=)
NM_000093.5(COL5A1):c.1023G>A (p.Val341=)
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met) rs1339426358
NM_000093.5(COL5A1):c.1044G>T (p.Thr348=) rs1246095864
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro) rs1588479393
NM_000093.5(COL5A1):c.1049C>T (p.Ser350Leu)
NM_000093.5(COL5A1):c.104G>A (p.Arg35His)
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln) rs887190843
NM_000093.5(COL5A1):c.1052C>T (p.Pro351Leu) rs887190843
NM_000093.5(COL5A1):c.1057G>C (p.Asp353His)
NM_000093.5(COL5A1):c.105del (p.Ala36fs) rs2132455125
NM_000093.5(COL5A1):c.1060G>A (p.Asp354Asn) rs1834835178
NM_000093.5(COL5A1):c.1063C>T (p.Leu355Phe)
NM_000093.5(COL5A1):c.1066_1068del (p.Thr356del)
NM_000093.5(COL5A1):c.1070A>T (p.Tyr357Phe)
NM_000093.5(COL5A1):c.1075G>C (p.Glu359Gln)
NM_000093.5(COL5A1):c.1075G>T (p.Glu359Ter) rs769752636
NM_000093.5(COL5A1):c.1077G>C (p.Glu359Asp)
NM_000093.5(COL5A1):c.1078G>A (p.Gly360Arg)
NM_000093.5(COL5A1):c.1078G>T (p.Gly360Trp)
NM_000093.5(COL5A1):c.1084G>A (p.Glu362Lys)
NM_000093.5(COL5A1):c.1089C>T (p.Asn363=)
NM_000093.5(COL5A1):c.109+10C>A rs2132455152
NM_000093.5(COL5A1):c.109+10C>T rs2132455152
NM_000093.5(COL5A1):c.109+11C>G
NM_000093.5(COL5A1):c.109+14G>A rs1831318716
NM_000093.5(COL5A1):c.109+16G>A
NM_000093.5(COL5A1):c.109+18C>A
NM_000093.5(COL5A1):c.109+7G>A rs1429209325
NM_000093.5(COL5A1):c.1092C>A (p.Pro364=)
NM_000093.5(COL5A1):c.1094_1095del (p.Asp365fs) rs1834837756
NM_000093.5(COL5A1):c.1097A>G (p.Gln366Arg) rs761227399
NM_000093.5(COL5A1):c.109G>C (p.Ala37Pro) rs2132455136
NM_000093.5(COL5A1):c.110-10G>A rs746555918
NM_000093.5(COL5A1):c.110-14C>T
NM_000093.5(COL5A1):c.110-1G>C rs1833255504
NM_000093.5(COL5A1):c.110-3C>G rs1554780148
NM_000093.5(COL5A1):c.1100C>T (p.Pro367Leu) rs1834838212
NM_000093.5(COL5A1):c.1102A>C (p.Thr368Pro) rs766771487
NM_000093.5(COL5A1):c.1106A>T (p.Asp369Val)
NM_000093.5(COL5A1):c.1113C>T (p.Gly371=)
NM_000093.5(COL5A1):c.1114G>T (p.Ala372Ser) rs755289850
NM_000093.5(COL5A1):c.1114_1115del (p.Ala372fs)
NM_000093.5(COL5A1):c.1115C>A (p.Ala372Asp) rs201829822
NM_000093.5(COL5A1):c.1115C>G (p.Ala372Gly)
NM_000093.5(COL5A1):c.1122C>G (p.Ala374=) rs758640551
NM_000093.5(COL5A1):c.1130C>A (p.Pro377His) rs868555520
NM_000093.5(COL5A1):c.1141G>T (p.Ala381Ser)
NM_000093.5(COL5A1):c.1144G>T (p.Asp382Tyr)
NM_000093.5(COL5A1):c.1161C>T (p.Ser387=)
NM_000093.5(COL5A1):c.1162A>G (p.Asn388Asp)
NM_000093.5(COL5A1):c.1164+13C>A rs1298341224
NM_000093.5(COL5A1):c.1164+19A>G rs1207484470
NM_000093.5(COL5A1):c.1164+19A>T
NM_000093.5(COL5A1):c.1164+8del
NM_000093.5(COL5A1):c.1165-11T>C
NM_000093.5(COL5A1):c.1165-14dup
NM_000093.5(COL5A1):c.1165-20G>A
NM_000093.5(COL5A1):c.1165-2_1169dup rs2132641901
NM_000093.5(COL5A1):c.1165-4G>T rs1834877909
NM_000093.5(COL5A1):c.1170T>G (p.Ala390=) rs1588480757
NM_000093.5(COL5A1):c.1173G>A (p.Pro391=)
NM_000093.5(COL5A1):c.1191G>A (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1193A>G (p.Asp398Gly)
NM_000093.5(COL5A1):c.1194_1196delinsG (p.Asp398fs) rs1834879370
NM_000093.5(COL5A1):c.1197C>G (p.Asp399Glu)
NM_000093.5(COL5A1):c.1201G>C (p.Glu401Gln)
NM_000093.5(COL5A1):c.1204G>T (p.Gly402Trp)
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met) rs758197769
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.1224G>T (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1228C>G (p.Arg410Gly)
NM_000093.5(COL5A1):c.122A>G (p.Asp41Gly)
NM_000093.5(COL5A1):c.1239C>G (p.Asp413Glu) rs775974461
NM_000093.5(COL5A1):c.1239_1241del (p.Asp413del) rs2132642108
NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1]) rs745934765
NM_000093.5(COL5A1):c.1246TACTACGACCCC[3] (p.416YYDP[3]) rs745934765
NM_000093.5(COL5A1):c.1252G>A (p.Asp418Asn)
NM_000093.5(COL5A1):c.1266C>G (p.Asp422Glu)
NM_000093.5(COL5A1):c.126_128del (p.Leu43del) rs1564390373
NM_000093.5(COL5A1):c.1271C>G (p.Thr424Ser) rs752619850
NM_000093.5(COL5A1):c.1274G>A (p.Ser425Asn)
NM_000093.5(COL5A1):c.127C>T (p.Leu43=) rs2132550837
NM_000093.5(COL5A1):c.1287G>T (p.Glu429Asp) rs2132642256
NM_000093.5(COL5A1):c.128T>G (p.Leu43Arg) rs2132550843
NM_000093.5(COL5A1):c.1290C>T (p.Ile430=) rs572136244
NM_000093.5(COL5A1):c.1296G>A (p.Pro432=)
NM_000093.5(COL5A1):c.1298G>C (p.Gly433Ala) rs2132642300
NM_000093.5(COL5A1):c.129G>A (p.Leu43=) rs1588441009
NM_000093.5(COL5A1):c.1305G>A (p.Pro435=)
NM_000093.5(COL5A1):c.1316A>T (p.Asp439Val) rs1060502244
NM_000093.5(COL5A1):c.1318A>C (p.Thr440Pro)
NM_000093.5(COL5A1):c.1322T>C (p.Ile441Thr)
NM_000093.5(COL5A1):c.1332+3G>A
NM_000093.5(COL5A1):c.1332+5G>A rs1564417882
NM_000093.5(COL5A1):c.1332+7G>A rs1834886446
NM_000093.5(COL5A1):c.1333-11A>T
NM_000093.5(COL5A1):c.1333-19T>A rs2132643213
NM_000093.5(COL5A1):c.1333-20C>T
NM_000093.5(COL5A1):c.1333-3dup rs773903401
NM_000093.5(COL5A1):c.1333-6_1333-5insAGATTGTC rs1588481731
NM_000093.5(COL5A1):c.1333-8A>C rs145620416
NM_000093.5(COL5A1):c.1352A>T (p.Glu451Val) rs1060502243
NM_000093.5(COL5A1):c.1356A>G (p.Lys452=)
NM_000093.5(COL5A1):c.1361A>G (p.Gln454Arg)
NM_000093.5(COL5A1):c.1364del (p.Lys455fs) rs1564418237
NM_000093.5(COL5A1):c.1374A>G (p.Pro458=)
NM_000093.5(COL5A1):c.1377G>A (p.Ala459=) rs746091599
NM_000093.5(COL5A1):c.1383C>G (p.Ile461Met) rs61736827
NM_000093.5(COL5A1):c.1384G>A (p.Glu462Lys) rs761770226
NM_000093.5(COL5A1):c.1384G>C (p.Glu462Gln) rs761770226
NM_000093.5(COL5A1):c.1387C>G (p.Pro463Ala)
NM_000093.5(COL5A1):c.1387C>T (p.Pro463Ser) rs368168386
NM_000093.5(COL5A1):c.1389+10T>C rs2132643477
NM_000093.5(COL5A1):c.1389+15T>C
NM_000093.5(COL5A1):c.1389+17A>T rs1298311702
NM_000093.5(COL5A1):c.1389+8C>G
NM_000093.5(COL5A1):c.1390-14C>G
NM_000093.5(COL5A1):c.1390-14C>T rs750785912
NM_000093.5(COL5A1):c.1390-17T>C
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1390-6C>T rs1381061693
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys) rs754948598
NM_000093.5(COL5A1):c.1402G>C (p.Glu468Gln)
NM_000093.5(COL5A1):c.1406_1407delinsAA (p.Gly469Glu)
NM_000093.5(COL5A1):c.1407C>T (p.Gly469=)
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.1429G>A (p.Ala477Thr) rs774936702
NM_000093.5(COL5A1):c.1429G>T (p.Ala477Ser) rs774936702
NM_000093.5(COL5A1):c.1431+16del rs2132655351
NM_000093.5(COL5A1):c.1431+1G>A
NM_000093.5(COL5A1):c.1431+5G>C rs1835185397
NM_000093.5(COL5A1):c.1432-18C>T rs761261485
NM_000093.5(COL5A1):c.1432-8A>G
NM_000093.5(COL5A1):c.1432G>A (p.Gly478Ser)
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys) rs1835194794
NM_000093.5(COL5A1):c.1435C>T (p.Leu479Phe)
NM_000093.5(COL5A1):c.1441G>A (p.Gly481Arg) rs1835194865
NM_000093.5(COL5A1):c.1442G>T (p.Gly481Val) rs1588488587
NM_000093.5(COL5A1):c.1445C>T (p.Pro482Leu) rs565329216
NM_000093.5(COL5A1):c.1454C>T (p.Thr485Ile)
NM_000093.5(COL5A1):c.1455C>T (p.Thr485=)
NM_000093.5(COL5A1):c.1463C>G (p.Pro488Arg) rs2132655977
NM_000093.5(COL5A1):c.1464C>T (p.Pro488=) rs1835195730
NM_000093.5(COL5A1):c.1470C>T (p.Gly490=) rs2132655989
NM_000093.5(COL5A1):c.1475T>C (p.Val492Ala)
NM_000093.5(COL5A1):c.1495-6C>T
NM_000093.5(COL5A1):c.1495-7T>A rs1835738568
NM_000093.5(COL5A1):c.149A>C (p.Asn50Thr)
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_000093.5(COL5A1):c.1503del (p.Gly502fs) rs1554792011
NM_000093.5(COL5A1):c.150C>T (p.Asn50=)
NM_000093.5(COL5A1):c.1521T>G (p.Pro507=) rs1835740030
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
NM_000093.5(COL5A1):c.1548A>G (p.Pro516=)
NM_000093.5(COL5A1):c.1553C>T (p.Thr518Ile)
NM_000093.5(COL5A1):c.1556T>C (p.Met519Thr) rs202069285
NM_000093.5(COL5A1):c.1569+10dup rs1394440955
NM_000093.5(COL5A1):c.1569+15C>G
NM_000093.5(COL5A1):c.1569+15_1569+16inv
NM_000093.5(COL5A1):c.1569+1G>A rs2132682690
NM_000093.5(COL5A1):c.1569+6T>C rs1588502477
NM_000093.5(COL5A1):c.1570-10dup
NM_000093.5(COL5A1):c.1570-9C>T rs548393414
NM_000093.5(COL5A1):c.1573C>T (p.Arg525Trp)
NM_000093.5(COL5A1):c.1578T>C (p.Phe526=) rs1835749798
NM_000093.5(COL5A1):c.1581A>G (p.Gly527=) rs547134376
NM_000093.5(COL5A1):c.1583G>T (p.Gly528Val)
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.5(COL5A1):c.1596G>A (p.Ala532=)
NM_000093.5(COL5A1):c.1596G>T (p.Ala532=)
NM_000093.5(COL5A1):c.15C>A (p.Thr5=)
NM_000093.5(COL5A1):c.1608C>A (p.Gly536=)
NM_000093.5(COL5A1):c.1611dup (p.Met538fs)
NM_000093.5(COL5A1):c.1617C>T (p.Val539=)
NM_000093.5(COL5A1):c.1620A>C (p.Ser540=) rs1033262221
NM_000093.5(COL5A1):c.1628_1630dup (p.Ser544Ter) rs2132683271
NM_000093.5(COL5A1):c.162A>G (p.Gly54=)
NM_000093.5(COL5A1):c.162A>T (p.Gly54=) rs764431997
NM_000093.5(COL5A1):c.1630del (p.Ser544fs) rs2132683277
NM_000093.5(COL5A1):c.1631C>T (p.Ser544Phe)
NM_000093.5(COL5A1):c.1638G>T (p.Ala546=) rs775508023
NM_000093.5(COL5A1):c.1639C>T (p.Gln547Ter) rs201625736
NM_000093.5(COL5A1):c.1648C>T (p.Leu550Phe)
NM_000093.5(COL5A1):c.164T>A (p.Ile55Lys)
NM_000093.5(COL5A1):c.1650C>T (p.Leu550=)
NM_000093.5(COL5A1):c.1654C>T (p.Gln552Ter)
NM_000093.5(COL5A1):c.1658C>T (p.Ala553Val) rs767143136
NM_000093.5(COL5A1):c.1662+11C>T rs2132683374
NM_000093.5(COL5A1):c.1662+15_1662+22dup
NM_000093.5(COL5A1):c.1662+1G>A rs1835753446
NM_000093.5(COL5A1):c.1662+6T>C
NM_000093.5(COL5A1):c.1668A>C (p.Ala556=)
NM_000093.5(COL5A1):c.1687C>T (p.Pro563Ser)
NM_000093.5(COL5A1):c.1688C>T (p.Pro563Leu) rs753260027
NM_000093.5(COL5A1):c.1691T>A (p.Met564Lys) rs1258095362
NM_000093.5(COL5A1):c.16C>T (p.Arg6Cys)
NM_000093.5(COL5A1):c.1716T>G (p.Pro572=) rs2132687220
NM_000093.5(COL5A1):c.1719+13C>A
NM_000093.5(COL5A1):c.1719+13C>G rs938125770
NM_000093.5(COL5A1):c.1719+19T>G rs1048557481
NM_000093.5(COL5A1):c.1719+7C>A rs1384002863
NM_000093.5(COL5A1):c.1719+8A>T rs747192480
NM_000093.5(COL5A1):c.1720-136_1929del
NM_000093.5(COL5A1):c.1720-14C>T
NM_000093.5(COL5A1):c.1720-16C>T
NM_000093.5(COL5A1):c.1720-1G>A rs1835880166
NM_000093.5(COL5A1):c.1720-3T>C rs960627780
NM_000093.5(COL5A1):c.1724C>A (p.Pro575His)
NM_000093.5(COL5A1):c.1725C>T (p.Pro575=)
NM_000093.5(COL5A1):c.1727del (p.Pro576fs) rs1488498065
NM_000093.5(COL5A1):c.1728del (p.Ser578fs) rs2132689832
NM_000093.5(COL5A1):c.1733G>A (p.Ser578Asn)
NM_000093.5(COL5A1):c.1735G>A (p.Gly579Arg)
NM_000093.5(COL5A1):c.1749C>T (p.Gly583=)
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala) rs751649145
NM_000093.5(COL5A1):c.1762G>A (p.Val588Met)
NM_000093.5(COL5A1):c.1773+15T>G
NM_000093.5(COL5A1):c.1773+17C>A
NM_000093.5(COL5A1):c.1773+9G>A
NM_000093.5(COL5A1):c.1774-16C>A rs755041858
NM_000093.5(COL5A1):c.1774-16C>T rs755041858
NM_000093.5(COL5A1):c.1774-1G>A rs2132690733
NM_000093.5(COL5A1):c.1774-7del
NM_000093.5(COL5A1):c.1774-8C>T rs1411915444
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_000093.5(COL5A1):c.1782A>T (p.Arg594=)
NM_000093.5(COL5A1):c.1787T>C (p.Val596Ala) rs754773665
NM_000093.5(COL5A1):c.1789C>T (p.Gln597Ter) rs2132690786
NM_000093.5(COL5A1):c.1794C>G (p.Gly598=) rs370565229
NM_000093.5(COL5A1):c.1796C>T (p.Pro599Leu)
NM_000093.5(COL5A1):c.1806G>A (p.Pro602=)
NM_000093.5(COL5A1):c.180C>A (p.Gly60=)
NM_000093.5(COL5A1):c.1810G>A (p.Gly604Arg)
NM_000093.5(COL5A1):c.1816C>T (p.Pro606Ser) rs1588506358
NM_000093.5(COL5A1):c.1819G>A (p.Gly607Arg)
NM_000093.5(COL5A1):c.1826G>A (p.Arg609Gln)
NM_000093.5(COL5A1):c.1827+8G>T
NM_000093.5(COL5A1):c.1828-11C>T
NM_000093.5(COL5A1):c.1828-12C>G
NM_000093.5(COL5A1):c.1836T>C (p.Ala612=)
NM_000093.5(COL5A1):c.1842T>G (p.Ser614Arg)
NM_000093.5(COL5A1):c.1850C>T (p.Ala617Val) rs1588508705
NM_000093.5(COL5A1):c.1863T>G (p.Pro621=)
NM_000093.5(COL5A1):c.1869A>C (p.Gln623His)
NM_000093.5(COL5A1):c.1881+14C>T
NM_000093.5(COL5A1):c.1881+3A>G
NM_000093.5(COL5A1):c.1881+4G>A
NM_000093.5(COL5A1):c.1881+9C>T rs1030738880
NM_000093.5(COL5A1):c.1882-5del rs1554793544
NM_000093.5(COL5A1):c.1882-9T>C rs1836058051
NM_000093.5(COL5A1):c.1886A>G (p.Asp629Gly) rs2132698898
NM_000093.5(COL5A1):c.188C>T (p.Ala63Val)
NM_000093.5(COL5A1):c.1910G>T (p.Gly637Val) rs777506210
NM_000093.5(COL5A1):c.1920C>A (p.Gly640=) rs781663334
NM_000093.5(COL5A1):c.1920C>T (p.Gly640=) rs781663334
NM_000093.5(COL5A1):c.1921G>A (p.Glu641Lys)
NM_000093.5(COL5A1):c.1923G>T (p.Glu641Asp) rs780322561
NM_000093.5(COL5A1):c.1926G>T (p.Lys642Asn) rs918992441
NM_000093.5(COL5A1):c.1929C>T (p.Gly643=)
NM_000093.5(COL5A1):c.1930C>T (p.His644Tyr) rs1836060732
NM_000093.5(COL5A1):c.1935+14C>G rs2132699069
NM_000093.5(COL5A1):c.1935+18G>A
NM_000093.5(COL5A1):c.1936-16C>G rs199694949
NM_000093.5(COL5A1):c.1937_1946del rs2132717812
NM_000093.5(COL5A1):c.1949C>T (p.Pro650Leu) rs150890005
NM_000093.5(COL5A1):c.1953C>A (p.Ser651=)
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter) rs1833258579
NM_000093.5(COL5A1):c.1970C>A (p.Pro657Gln)
NM_000093.5(COL5A1):c.1977C>A (p.Asp659Glu) rs370766020
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=) rs370766020
NM_000093.5(COL5A1):c.197G>C (p.Arg66Pro) rs146074704
NM_000093.5(COL5A1):c.1989+14C>T
NM_000093.5(COL5A1):c.1989+17C>T rs981100115
NM_000093.5(COL5A1):c.1989+1G>C rs1836462685
NM_000093.5(COL5A1):c.1989+5G>C
NM_000093.5(COL5A1):c.198A>G (p.Arg66=) rs1463204835
NM_000093.5(COL5A1):c.1990-12del
NM_000093.5(COL5A1):c.1990-12dup rs1445580029
NM_000093.5(COL5A1):c.1990-5T>C
NM_000093.5(COL5A1):c.1990-6C>G
NM_000093.5(COL5A1):c.1990-7T>C
NM_000093.5(COL5A1):c.1990-9C>T
NM_000093.5(COL5A1):c.1A>G (p.Met1Val) rs2132454722
NM_000093.5(COL5A1):c.2002G>C (p.Glu668Gln) rs764603796
NM_000093.5(COL5A1):c.2016G>A (p.Arg672=)
NM_000093.5(COL5A1):c.2019G>A (p.Gly673=) rs139822656
NM_000093.5(COL5A1):c.2019G>C (p.Gly673=) rs139822656
NM_000093.5(COL5A1):c.2031G>T (p.Glu677Asp)
NM_000093.5(COL5A1):c.2034+16G>C
NM_000093.5(COL5A1):c.2034+1G>A rs886042173
NM_000093.5(COL5A1):c.2034+2T>A
NM_000093.5(COL5A1):c.2035-13T>C
NM_000093.5(COL5A1):c.2035-14C>A
NM_000093.5(COL5A1):c.2041C>G (p.Arg681Gly)
NM_000093.5(COL5A1):c.2041C>T (p.Arg681Cys) rs1564445192
NM_000093.5(COL5A1):c.2042G>T (p.Arg681Leu)
NM_000093.5(COL5A1):c.2047C>T (p.Leu683=)
NM_000093.5(COL5A1):c.2049G>C (p.Leu683=) rs1060504529
NM_000093.5(COL5A1):c.2068C>G (p.Pro690Ala)
NM_000093.5(COL5A1):c.2070A>G (p.Pro690=) rs1060504527
NM_000093.5(COL5A1):c.2071G>T (p.Gly691Cys)
NM_000093.5(COL5A1):c.2082A>G (p.Gly694=)
NM_000093.5(COL5A1):c.2088+16G>A
NM_000093.5(COL5A1):c.2088+18C>T
NM_000093.5(COL5A1):c.2088+4dup rs1836638328
NM_000093.5(COL5A1):c.2088+5G>T
NM_000093.5(COL5A1):c.2092_2093delinsCA (p.Val698His) rs1554796087
NM_000093.5(COL5A1):c.2106C>T (p.Asp702=)
NM_000093.5(COL5A1):c.2109C>T (p.Gly703=)
NM_000093.5(COL5A1):c.2115G>A (p.Pro705=)
NM_000093.5(COL5A1):c.2118G>T (p.Gly706=)
NM_000093.5(COL5A1):c.2119C>A (p.Pro707Thr)
NM_000093.5(COL5A1):c.2133+13G>A
NM_000093.5(COL5A1):c.2133+14del
NM_000093.5(COL5A1):c.2133+19G>A rs757103259
NM_000093.5(COL5A1):c.2134-14C>G
NM_000093.5(COL5A1):c.2134-4G>T
NM_000093.5(COL5A1):c.2138C>T (p.Pro713Leu)
NM_000093.5(COL5A1):c.213G>C (p.Pro71=)
NM_000093.5(COL5A1):c.213G>T (p.Pro71=) rs775666676
NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter) rs1554796176
NM_000093.5(COL5A1):c.2143G>T (p.Gly715Ter) rs1060502258
NM_000093.5(COL5A1):c.2148G>A (p.Glu716=) rs368917234
NM_000093.5(COL5A1):c.2151T>C (p.Pro717=)
NM_000093.5(COL5A1):c.2154C>T (p.Gly718=) rs201785573
NM_000093.5(COL5A1):c.2155C>T (p.Pro719Ser) rs1564446104
NM_000093.5(COL5A1):c.2159C>T (p.Pro720Leu)
NM_000093.5(COL5A1):c.2159del (p.Pro720fs) rs863223469
NM_000093.5(COL5A1):c.2159dup (p.Gly721fs) rs863223469
NM_000093.5(COL5A1):c.2162G>A (p.Gly721Glu)
NM_000093.5(COL5A1):c.2164C>T (p.Gln722Ter) rs1564446117
NM_000093.5(COL5A1):c.216T>C (p.Asp72=)
NM_000093.5(COL5A1):c.2177del (p.Pro726fs)
NM_000093.5(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_000093.5(COL5A1):c.2184C>T (p.Ala728=) rs150993138
NM_000093.5(COL5A1):c.2187+20G>A
NM_000093.5(COL5A1):c.2187+4A>G rs919497204
NM_000093.5(COL5A1):c.2187+6T>C rs1836698236
NM_000093.5(COL5A1):c.2188-11C>A
NM_000093.5(COL5A1):c.2188-15C>G rs1308708773
NM_000093.5(COL5A1):c.2188-15_2188-14del rs2132729217
NM_000093.5(COL5A1):c.2188-6T>G
NM_000093.5(COL5A1):c.2188-9C>T
NM_000093.5(COL5A1):c.2202C>T (p.Pro734=)
NM_000093.5(COL5A1):c.2208T>A (p.Gly736=) rs2132729303
NM_000093.5(COL5A1):c.2209G>A (p.Ala737Thr) rs2132729311
NM_000093.5(COL5A1):c.220G>A (p.Ala74Thr)
NM_000093.5(COL5A1):c.2210C>G (p.Ala737Gly)
NM_000093.5(COL5A1):c.2232+17T>G
NM_000093.5(COL5A1):c.2232+20G>A rs2132729412
NM_000093.5(COL5A1):c.2232+4G>C rs1060502257
NM_000093.5(COL5A1):c.2232+7G>A rs2132729384
NM_000093.5(COL5A1):c.2232+8G>A
NM_000093.5(COL5A1):c.2233-11G>A
NM_000093.5(COL5A1):c.2233-13T>G
NM_000093.5(COL5A1):c.2233-15T>C
NM_000093.5(COL5A1):c.225_226del (p.Tyr75_Arg76delinsTer)
NM_000093.5(COL5A1):c.2262A>T (p.Gly754=) rs1836755970
NM_000093.5(COL5A1):c.2266C>T (p.Pro756Ser)
NM_000093.5(COL5A1):c.2275G>C (p.Asp759His)
NM_000093.5(COL5A1):c.2277C>T (p.Asp759=)
NM_000093.5(COL5A1):c.2284C>A (p.Pro762Thr)
NM_000093.5(COL5A1):c.2285C>A (p.Pro762Gln)
NM_000093.5(COL5A1):c.2286+8G>A
NM_000093.5(COL5A1):c.2287-11T>C
NM_000093.5(COL5A1):c.2287-12C>T
NM_000093.5(COL5A1):c.2287-7G>C
NM_000093.5(COL5A1):c.228_229del (p.Arg76fs) rs1060502242
NM_000093.5(COL5A1):c.2294C>G (p.Pro765Arg)
NM_000093.5(COL5A1):c.2312C>G (p.Pro771Arg) rs1554797269
NM_000093.5(COL5A1):c.2312delinsTGGCAAAGA (p.Pro771fs)
NM_000093.5(COL5A1):c.2316A>G (p.Gly772=)
NM_000093.5(COL5A1):c.2318A>T (p.Glu773Val) rs759963647
NM_000093.5(COL5A1):c.2321A>C (p.Lys774Thr) rs1564449370
NM_000093.5(COL5A1):c.2331+12C>T
NM_000093.5(COL5A1):c.2331+4G>C rs1588532335
NM_000093.5(COL5A1):c.2331+4_2331+5dup
NM_000093.5(COL5A1):c.2331+7G>C rs2132742244
NM_000093.5(COL5A1):c.2331G>A (p.Gln777=) rs1588532322
NM_000093.5(COL5A1):c.2332-14C>G
NM_000093.5(COL5A1):c.2332-20C>T rs1588534559
NM_000093.5(COL5A1):c.2332-3del rs2132747868
NM_000093.5(COL5A1):c.2332-5T>G rs2132747878
NM_000093.5(COL5A1):c.2332-9T>G rs1554797620
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys) rs2132747882
NM_000093.5(COL5A1):c.2334T>C (p.Gly778=)
NM_000093.5(COL5A1):c.2346C>T (p.Pro782=)
NM_000093.5(COL5A1):c.2365C>G (p.Pro789Ala)
NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_000093.5(COL5A1):c.2375G>A (p.Arg792Gln)
NM_000093.5(COL5A1):c.2383A>G (p.Lys795Glu) rs2132748056
NM_000093.5(COL5A1):c.2385+13C>A
NM_000093.5(COL5A1):c.2385+19A>G
NM_000093.5(COL5A1):c.2385+3G>A
NM_000093.5(COL5A1):c.2386-10A>C rs2132759970
NM_000093.5(COL5A1):c.2386-3C>G rs1564453831
NM_000093.5(COL5A1):c.2386-6G>T
NM_000093.5(COL5A1):c.2386-8C>A rs1588539610
NM_000093.5(COL5A1):c.2390C>A (p.Ala797Asp)
NM_000093.5(COL5A1):c.2394T>C (p.Asp798=) rs2132760049
NM_000093.5(COL5A1):c.2406T>G (p.Gly802=)
NM_000093.5(COL5A1):c.2409G>A (p.Leu803=) rs2132760095
NM_000093.5(COL5A1):c.2419A>G (p.Lys807Glu)
NM_000093.5(COL5A1):c.2425G>T (p.Glu809Ter) rs1032017865
NM_000093.5(COL5A1):c.2426A>G (p.Glu809Gly)
NM_000093.5(COL5A1):c.2429_2430+26del
NM_000093.5(COL5A1):c.2430+11C>T
NM_000093.5(COL5A1):c.2430+16C>T rs530385215
NM_000093.5(COL5A1):c.2430+19_2430+20delinsTT
NM_000093.5(COL5A1):c.2430+1G>A rs1060502248
NM_000093.5(COL5A1):c.2430+1G>C
NM_000093.5(COL5A1):c.2430+20_2430+21inv
NM_000093.5(COL5A1):c.2430+5G>T
NM_000093.5(COL5A1):c.2431-13G>A
NM_000093.5(COL5A1):c.2431-13G>T
NM_000093.5(COL5A1):c.2431-20C>T
NM_000093.5(COL5A1):c.2431-7T>C rs1060504531
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=) rs1554798918
NM_000093.5(COL5A1):c.2434G>A (p.Glu812Lys) rs1554798924
NM_000093.5(COL5A1):c.2437G>T (p.Asp813Tyr) rs1837306111
NM_000093.5(COL5A1):c.2448T>G (p.Pro816=)
NM_000093.5(COL5A1):c.2451G>T (p.Gly817=) rs1554798928
NM_000093.5(COL5A1):c.2463C>T (p.Asp821=) rs1588542906
NM_000093.5(COL5A1):c.246G>T (p.Gln82His) rs777607116
NM_000093.5(COL5A1):c.2478T>C (p.Gly826=)
NM_000093.5(COL5A1):c.2484+14G>A rs371753763
NM_000093.5(COL5A1):c.2484+1G>T rs1564455577
NM_000093.5(COL5A1):c.2485-14T>C
NM_000093.5(COL5A1):c.2485-18_2485-16del
NM_000093.5(COL5A1):c.2487G>A (p.Gly829=)
NM_000093.5(COL5A1):c.2489A>G (p.Glu830Gly)
NM_000093.5(COL5A1):c.2492T>G (p.Ile831Ser)
NM_000093.5(COL5A1):c.2496C>G (p.Gly832=)
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser) rs370547479
NM_000093.5(COL5A1):c.2518G>C (p.Asp840His) rs1564457054
NM_000093.5(COL5A1):c.2535A>G (p.Pro845=)
NM_000093.5(COL5A1):c.2544C>A (p.Arg848=) rs201556585
NM_000093.5(COL5A1):c.2544C>T (p.Arg848=) rs201556585
NM_000093.5(COL5A1):c.2545G>A (p.Gly849Arg)
NM_000093.5(COL5A1):c.2553del (p.Asn852fs) rs1837406273
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_000093.5(COL5A1):c.2558G>A (p.Gly853Asp)
NM_000093.5(COL5A1):c.2559T>C (p.Gly853=) rs1588545978
NM_000093.5(COL5A1):c.2563C>T (p.Pro855Ser)
NM_000093.5(COL5A1):c.2564C>A (p.Pro855His)
NM_000093.5(COL5A1):c.2565C>T (p.Pro855=)
NM_000093.5(COL5A1):c.2565del (p.Gly856fs) rs1564457102
NM_000093.5(COL5A1):c.2569C>T (p.Pro857Ser) rs1254955559
NM_000093.5(COL5A1):c.257C>G (p.Pro86Arg)
NM_000093.5(COL5A1):c.257CCA[1] (p.Thr87del) rs2132551178
NM_000093.5(COL5A1):c.2586G>A (p.Gly862=)
NM_000093.5(COL5A1):c.2592+16C>G rs145429817
NM_000093.5(COL5A1):c.2592+16C>T rs145429817
NM_000093.5(COL5A1):c.2592+20C>A
NM_000093.5(COL5A1):c.2593-10C>G
NM_000093.5(COL5A1):c.2602G>A (p.Gly868Arg)
NM_000093.5(COL5A1):c.2633G>C (p.Arg878Thr)
NM_000093.5(COL5A1):c.2646+13C>T
NM_000093.5(COL5A1):c.2646+30_2646+93del
NM_000093.5(COL5A1):c.2647-12A>T
NM_000093.5(COL5A1):c.2647-16T>G
NM_000093.5(COL5A1):c.2647-3C>G rs746511717
NM_000093.5(COL5A1):c.2647-3C>T
NM_000093.5(COL5A1):c.2647-9C>G rs757930358
NM_000093.5(COL5A1):c.2647-9C>T
NM_000093.5(COL5A1):c.2647G>A (p.Gly883Ser)
NM_000093.5(COL5A1):c.2653A>C (p.Ile885Leu)
NM_000093.5(COL5A1):c.265C>T (p.Gln89Ter) rs1833261804
NM_000093.5(COL5A1):c.2660del (p.Phe887fs) rs1588551159
NM_000093.5(COL5A1):c.266A>G (p.Gln89Arg) rs1554780187
NM_000093.5(COL5A1):c.2670T>G (p.Phe890Leu)
NM_000093.5(COL5A1):c.2674_2675delinsCT (p.Gly892Leu) rs2132784450
NM_000093.5(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_000093.5(COL5A1):c.2676C>T (p.Gly892=) rs143161140
NM_000093.5(COL5A1):c.2688G>A (p.Glu896=)
NM_000093.5(COL5A1):c.268C>T (p.Leu90=)
NM_000093.5(COL5A1):c.2693G>T (p.Gly898Val) rs910417046
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu) rs900216804
NM_000093.5(COL5A1):c.2700+12C>T rs752367004
NM_000093.5(COL5A1):c.2700+16C>A
NM_000093.5(COL5A1):c.2700+18C>T
NM_000093.5(COL5A1):c.2700+19C>G
NM_000093.5(COL5A1):c.2700+19dup
NM_000093.5(COL5A1):c.2700+20T>G
NM_000093.5(COL5A1):c.2700+2T>C rs1588551226
NM_000093.5(COL5A1):c.2701-10C>T
NM_000093.5(COL5A1):c.2701-11T>C
NM_000093.5(COL5A1):c.2701-15dup
NM_000093.5(COL5A1):c.2701-1G>A
NM_000093.5(COL5A1):c.2701-25T>G rs765079080
NM_000093.5(COL5A1):c.2703G>C (p.Gly901=)
NM_000093.5(COL5A1):c.2705C>T (p.Thr902Ile) rs1239938844
NM_000093.5(COL5A1):c.2715G>T (p.Lys905Asn) rs533217850
NM_000093.5(COL5A1):c.2724G>C (p.Pro908=) rs41310207
NM_000093.5(COL5A1):c.2730dup (p.Gln911fs) rs2132802457
NM_000093.5(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_000093.5(COL5A1):c.2735G>A (p.Arg912Gln) rs1437668038
NM_000093.5(COL5A1):c.273C>T (p.Tyr91=) rs1341789008
NM_000093.5(COL5A1):c.2745+7A>G rs1588558338
NM_000093.5(COL5A1):c.2745+9C>T rs1837850960
NM_000093.5(COL5A1):c.2746-11C>G
NM_000093.5(COL5A1):c.2746-11C>T
NM_000093.5(COL5A1):c.2746-12C>A
NM_000093.5(COL5A1):c.2746-12C>T
NM_000093.5(COL5A1):c.2746-15C>T rs2132802979
NM_000093.5(COL5A1):c.2746-19T>G
NM_000093.5(COL5A1):c.2746-6G>T
NM_000093.5(COL5A1):c.2746-8C>T
NM_000093.5(COL5A1):c.2754G>A (p.Arg918=) rs776715400
NM_000093.5(COL5A1):c.277+10G>A
NM_000093.5(COL5A1):c.277+6T>C
NM_000093.5(COL5A1):c.2777T>C (p.Ile926Thr)
NM_000093.5(COL5A1):c.278-13_278-12del
NM_000093.5(COL5A1):c.278-4C>T
NM_000093.5(COL5A1):c.278-9C>G
NM_000093.5(COL5A1):c.2789C>G (p.Pro930Arg)
NM_000093.5(COL5A1):c.278C>G (p.Ala93Gly) rs41306397
NM_000093.5(COL5A1):c.2793C>A (p.Gly931=)
NM_000093.5(COL5A1):c.2798A>G (p.Lys933Arg)
NM_000093.5(COL5A1):c.2799+10T>C rs941515036
NM_000093.5(COL5A1):c.2799+10_2799+19del
NM_000093.5(COL5A1):c.2799+12_2799+13delinsCT
NM_000093.5(COL5A1):c.2799+13C>T rs75668257
NM_000093.5(COL5A1):c.2799+14C>T rs1837863011
NM_000093.5(COL5A1):c.2800-13_2800-4del
NM_000093.5(COL5A1):c.2800-15_2800-14del
NM_000093.5(COL5A1):c.2800-18C>A rs73664144
NM_000093.5(COL5A1):c.2800-18C>T rs73664144
NM_000093.5(COL5A1):c.2800-19C>A
NM_000093.5(COL5A1):c.2800-19C>G
NM_000093.5(COL5A1):c.2800-19C>T
NM_000093.5(COL5A1):c.2809G>A (p.Gly937Arg) rs1330022009
NM_000093.5(COL5A1):c.2811A>G (p.Gly937=)
NM_000093.5(COL5A1):c.2830C>T (p.Pro944Ser)
NM_000093.5(COL5A1):c.2831C>T (p.Pro944Leu) rs756440511
NM_000093.5(COL5A1):c.2841A>G (p.Glu947=)
NM_000093.5(COL5A1):c.2842C>T (p.Arg948Trp) rs1030105888
NM_000093.5(COL5A1):c.2844+20G>C
NM_000093.5(COL5A1):c.2844+20G>T
NM_000093.5(COL5A1):c.2844+3A>G rs2132806641
NM_000093.5(COL5A1):c.2844G>A (p.Arg948=) rs1421835224
NM_000093.5(COL5A1):c.2845-13T>C
NM_000093.5(COL5A1):c.2845-17C>T
NM_000093.5(COL5A1):c.2845-18G>A
NM_000093.5(COL5A1):c.2845-19G>A
NM_000093.5(COL5A1):c.2851A>C (p.Asn951His) rs1588560410
NM_000093.5(COL5A1):c.2853T>C (p.Asn951=)
NM_000093.5(COL5A1):c.2857C>T (p.Pro953Ser) rs773946732
NM_000093.5(COL5A1):c.2870C>T (p.Thr957Ile)
NM_000093.5(COL5A1):c.2891G>T (p.Gly964Val)
NM_000093.5(COL5A1):c.2893C>T (p.Pro965Ser) rs755051823
NM_000093.5(COL5A1):c.2894C>T (p.Pro965Leu) rs376435205
NM_000093.5(COL5A1):c.2895C>T (p.Pro965=)
NM_000093.5(COL5A1):c.2897del (p.Pro966fs) rs1179967153
NM_000093.5(COL5A1):c.2898+10G>T
NM_000093.5(COL5A1):c.2898+16C>G
NM_000093.5(COL5A1):c.2898+18T>C
NM_000093.5(COL5A1):c.2898+19G>C
NM_000093.5(COL5A1):c.2898+19G>T
NM_000093.5(COL5A1):c.2899-12T>C
NM_000093.5(COL5A1):c.2899-19C>T
NM_000093.5(COL5A1):c.2899-20T>C
NM_000093.5(COL5A1):c.2899-6C>A
NM_000093.5(COL5A1):c.2899-7T>C
NM_000093.5(COL5A1):c.2899-7dup
NM_000093.5(COL5A1):c.2902C>G (p.Pro968Ala) rs1564466152
NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser) rs759627305
NM_000093.5(COL5A1):c.2918dup (p.Leu974fs)
NM_000093.5(COL5A1):c.291C>T (p.Pro97=)
NM_000093.5(COL5A1):c.2925_2926dup (p.Gly976fs)
NM_000093.5(COL5A1):c.2929C>G (p.His977Asp)
NM_000093.5(COL5A1):c.2929C>T (p.His977Tyr)
NM_000093.5(COL5A1):c.2931C>A (p.His977Gln) rs1564466171
NM_000093.5(COL5A1):c.2950A>T (p.Thr984Ser) rs1837995693
NM_000093.5(COL5A1):c.2952+10_2952+11delinsAT
NM_000093.5(COL5A1):c.2952+16del
NM_000093.5(COL5A1):c.2952+1G>C
NM_000093.5(COL5A1):c.2952+20G>A
NM_000093.5(COL5A1):c.2952+2_2952+3del rs1588562135
NM_000093.5(COL5A1):c.2952T>C (p.Thr984=)
NM_000093.5(COL5A1):c.2953-10C>T
NM_000093.5(COL5A1):c.2953-14CT[3]
NM_000093.5(COL5A1):c.296A>G (p.Asp99Gly) rs2132569560
NM_000093.5(COL5A1):c.2970C>G (p.Thr990=) rs548678914
NM_000093.5(COL5A1):c.2970C>T (p.Thr990=)
NM_000093.5(COL5A1):c.2975C>T (p.Pro992Leu)
NM_000093.5(COL5A1):c.297_304dup (p.Ile102fs) rs1588448655
NM_000093.5(COL5A1):c.2982C>G (p.Gly994=)
NM_000093.5(COL5A1):c.2983C>G (p.Pro995Ala) rs187022757
NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser) rs187022757
NM_000093.5(COL5A1):c.2984C>T (p.Pro995Leu)
NM_000093.5(COL5A1):c.2986C>A (p.Pro996Thr)
NM_000093.5(COL5A1):c.2986C>G (p.Pro996Ala) rs774351619
NM_000093.5(COL5A1):c.2986C>T (p.Pro996Ser) rs774351619
NM_000093.5(COL5A1):c.2988C>A (p.Pro996=) rs374409202
NM_000093.5(COL5A1):c.2988C>T (p.Pro996=) rs374409202
NM_000093.5(COL5A1):c.2988del (p.Gly997fs) rs764693725
NM_000093.5(COL5A1):c.2988dup (p.Gly997fs) rs764693725
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser) rs863223445
NM_000093.5(COL5A1):c.2997C>G (p.Val999=)
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser) rs765082093
NM_000093.5(COL5A1):c.2T>G (p.Met1Arg)
NM_000093.5(COL5A1):c.3006+1G>A
NM_000093.5(COL5A1):c.3006+5G>A
NM_000093.5(COL5A1):c.3006+8C>A rs1386029156
NM_000093.5(COL5A1):c.3007-15T>C
NM_000093.5(COL5A1):c.3007-17A>G
NM_000093.5(COL5A1):c.3007-6_3007-5delinsAG
NM_000093.5(COL5A1):c.3007-7C>T
NM_000093.5(COL5A1):c.3015G>T (p.Thr1005=) rs751265351
NM_000093.5(COL5A1):c.301T>C (p.Ser101Pro) rs1554781476
NM_000093.5(COL5A1):c.3031A>G (p.Met1011Val)
NM_000093.5(COL5A1):c.3037G>A (p.Glu1013Lys) rs1060502249
NM_000093.5(COL5A1):c.3045C>T (p.Gly1015=)
NM_000093.5(COL5A1):c.3054G>T (p.Gly1018=) rs369163868
NM_000093.5(COL5A1):c.3055C>A (p.Pro1019Thr)
NM_000093.5(COL5A1):c.3067C>A (p.Pro1023Thr) rs1838166559
NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs) rs863223473
NM_000093.5(COL5A1):c.3084T>C (p.Leu1028=) rs2132822335
NM_000093.5(COL5A1):c.3085C>T (p.Pro1029Ser)
NM_000093.5(COL5A1):c.309A>T (p.Leu103=)
NM_000093.5(COL5A1):c.309AAC[1] (p.Thr105del) rs863223476
NM_000093.5(COL5A1):c.3114+10T>C rs1057523401
NM_000093.5(COL5A1):c.3114+1G>A rs1838169083
NM_000093.5(COL5A1):c.3114G>A (p.Lys1038=)
NM_000093.5(COL5A1):c.3115-10_3115-9del
NM_000093.5(COL5A1):c.3115-12C>T
NM_000093.5(COL5A1):c.3115-4T>G
NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala) rs751792216
NM_000093.5(COL5A1):c.3125G>T (p.Gly1042Val) rs2132827065
NM_000093.5(COL5A1):c.3132A>G (p.Ala1044=) rs2132827122
NM_000093.5(COL5A1):c.315T>C (p.Thr105=) rs1232024630
NM_000093.5(COL5A1):c.3162A>T (p.Gly1054=) rs2132827198
NM_000093.5(COL5A1):c.3163T>C (p.Leu1055=)
NM_000093.5(COL5A1):c.3165A>G (p.Leu1055=) rs1588569724
NM_000093.5(COL5A1):c.3170G>A (p.Gly1057Asp) rs1554803568
NM_000093.5(COL5A1):c.3171T>C (p.Gly1057=) rs943030077
NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_000093.5(COL5A1):c.3185G>C (p.Arg1062Pro) rs771807198
NM_000093.5(COL5A1):c.3185G>T (p.Arg1062Leu) rs771807198
NM_000093.5(COL5A1):c.3189G>A (p.Gly1063=)
NM_000093.5(COL5A1):c.318G>A (p.Val106=) rs372181142
NM_000093.5(COL5A1):c.3194C>T (p.Pro1065Leu) rs2132827329
NM_000093.5(COL5A1):c.3204+18C>T
NM_000093.5(COL5A1):c.3204+19G>A
NM_000093.5(COL5A1):c.3205-12A>T
NM_000093.5(COL5A1):c.3205-18C>A rs199557977
NM_000093.5(COL5A1):c.3205-1G>C
NM_000093.5(COL5A1):c.3205-20A>G rs1198283460
NM_000093.5(COL5A1):c.3205-5T>C
NM_000093.5(COL5A1):c.3209C>T (p.Ala1070Val) rs2132827686
NM_000093.5(COL5A1):c.3211C>T (p.Leu1071Phe)
NM_000093.5(COL5A1):c.321del (p.Ala108fs) rs2132569651
NM_000093.5(COL5A1):c.3228T>C (p.Asn1076=)
NM_000093.5(COL5A1):c.3233G>A (p.Gly1078Glu) rs1554803631
NM_000093.5(COL5A1):c.3234G>C (p.Gly1078=)
NM_000093.5(COL5A1):c.3236C>A (p.Pro1079His)
NM_000093.5(COL5A1):c.3236C>T (p.Pro1079Leu) rs863223447
NM_000093.5(COL5A1):c.3255T>C (p.Pro1085=)
NM_000093.5(COL5A1):c.3258+13C>G
NM_000093.5(COL5A1):c.3258+20C>T
NM_000093.5(COL5A1):c.3258G>T (p.Ala1086=)
NM_000093.5(COL5A1):c.3259-11C>G
NM_000093.5(COL5A1):c.3259-11C>T
NM_000093.5(COL5A1):c.3259-12G>T
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.3261A>T (p.Gly1087=)
NM_000093.5(COL5A1):c.3263C>G (p.Ser1088Cys) rs1383949759
NM_000093.5(COL5A1):c.3270G>A (p.Gly1090=)
NM_000093.5(COL5A1):c.3272del (p.Glu1091fs)
NM_000093.5(COL5A1):c.3287G>A (p.Gly1096Glu)
NM_000093.5(COL5A1):c.3290C>T (p.Ala1097Val)
NM_000093.5(COL5A1):c.3292G>T (p.Ala1098Ser)
NM_000093.5(COL5A1):c.3297del (p.Ile1101fs) rs1838291478
NM_000093.5(COL5A1):c.32G>T (p.Ser11Ile)
NM_000093.5(COL5A1):c.3303C>A (p.Ile1101=) rs760754491
NM_000093.5(COL5A1):c.3309_3325dup (p.Pro1109fs) rs1564471440
NM_000093.5(COL5A1):c.3310C>T (p.Pro1104Ser) rs1838292124
NM_000093.5(COL5A1):c.3312A>G (p.Pro1104=) rs1554803839
NM_000093.5(COL5A1):c.3313G>A (p.Gly1105Arg)
NM_000093.5(COL5A1):c.3317G>A (p.Arg1106Lys) rs1838292501
NM_000093.5(COL5A1):c.3317_3333del (p.Arg1106fs)
NM_000093.5(COL5A1):c.3333A>C (p.Gly1111=)
NM_000093.5(COL5A1):c.3334C>T (p.Pro1112Ser) rs1204892518
NM_000093.5(COL5A1):c.3335C>T (p.Pro1112Leu)
NM_000093.5(COL5A1):c.3337C>T (p.Pro1113Ser) rs1342258419
NM_000093.5(COL5A1):c.3344C>A (p.Pro1115Gln) rs139039658
NM_000093.5(COL5A1):c.3353A>T (p.Glu1118Val)
NM_000093.5(COL5A1):c.3354G>A (p.Glu1118=) rs2132830826
NM_000093.5(COL5A1):c.3360G>T (p.Gly1120=)
NM_000093.5(COL5A1):c.3366+12C>A
NM_000093.5(COL5A1):c.3366+20G>T
NM_000093.5(COL5A1):c.3367-11G>C
NM_000093.5(COL5A1):c.3367-13C>G
NM_000093.5(COL5A1):c.3367-14_3367-12del rs750002182
NM_000093.5(COL5A1):c.3367-15T>G
NM_000093.5(COL5A1):c.3367-16C>T
NM_000093.5(COL5A1):c.3367-4C>T rs1411238332
NM_000093.5(COL5A1):c.3367-7T>A
NM_000093.5(COL5A1):c.3373A>G (p.Lys1125Glu)
NM_000093.5(COL5A1):c.337C>T (p.Gln113Ter) rs2132569692
NM_000093.5(COL5A1):c.3382C>A (p.Gln1128Lys) rs1838417062
NM_000093.5(COL5A1):c.3383A>G (p.Gln1128Arg)
NM_000093.5(COL5A1):c.3384A>G (p.Gln1128=)
NM_000093.5(COL5A1):c.3385G>A (p.Gly1129Ser)
NM_000093.5(COL5A1):c.3386G>T (p.Gly1129Val)
NM_000093.5(COL5A1):c.338A>G (p.Gln113Arg)
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.5(COL5A1):c.3403G>A (p.Gly1135Ser) rs775559638
NM_000093.5(COL5A1):c.3412G>T (p.Gly1138Trp) rs2132838695
NM_000093.5(COL5A1):c.3414G>A (p.Gly1138=)
NM_000093.5(COL5A1):c.3421G>C (p.Gly1141Arg) rs1269224473
NM_000093.5(COL5A1):c.3426C>T (p.Leu1142=)
NM_000093.5(COL5A1):c.3429G>A (p.Pro1143=) rs750169623
NM_000093.5(COL5A1):c.342C>G (p.Ala114=) rs2132569714
NM_000093.5(COL5A1):c.343T>A (p.Phe115Ile) rs1564396163
NM_000093.5(COL5A1):c.3442C>T (p.Pro1148Ser)
NM_000093.5(COL5A1):c.3443dup (p.Val1149fs)
NM_000093.5(COL5A1):c.3452C>T (p.Pro1151Leu)
NM_000093.5(COL5A1):c.3454C>T (p.Pro1152Ser) rs1424921275
NM_000093.5(COL5A1):c.3455dup (p.Gly1153fs) rs2132838808
NM_000093.5(COL5A1):c.3466G>A (p.Gly1156Arg)
NM_000093.5(COL5A1):c.3468A>C (p.Gly1156=) rs1296980747
NM_000093.5(COL5A1):c.346C>T (p.Leu116=)
NM_000093.5(COL5A1):c.3474+20A>G
NM_000093.5(COL5A1):c.3474+5G>A
NM_000093.5(COL5A1):c.3474+6G>A
NM_000093.5(COL5A1):c.3475-4C>T
NM_000093.5(COL5A1):c.3475-7C>A
NM_000093.5(COL5A1):c.3476G>A (p.Gly1159Glu) rs1838466921
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg) rs1838467288
NM_000093.5(COL5A1):c.3487G>A (p.Glu1163Lys)
NM_000093.5(COL5A1):c.3488A>C (p.Glu1163Ala)
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr) rs1160540030
NM_000093.5(COL5A1):c.3509A>G (p.Lys1170Arg) rs2132841141
NM_000093.5(COL5A1):c.3511G>A (p.Gly1171Arg) rs2132841157
NM_000093.5(COL5A1):c.3514dup (p.Asp1172fs) rs2132841152
NM_000093.5(COL5A1):c.3528+13A>G
NM_000093.5(COL5A1):c.3528+14C>G
NM_000093.5(COL5A1):c.3528+5G>A
NM_000093.5(COL5A1):c.3529-16G>C
NM_000093.5(COL5A1):c.3529-1G>T rs1588577214
NM_000093.5(COL5A1):c.3529-8C>T
NM_000093.5(COL5A1):c.3535C>T (p.Pro1179Ser)
NM_000093.5(COL5A1):c.353C>G (p.Ser118Cys) rs1554781494
NM_000093.5(COL5A1):c.3546A>T (p.Thr1182=)
NM_000093.5(COL5A1):c.3553C>T (p.Gln1185Ter)
NM_000093.5(COL5A1):c.3560C>T (p.Pro1187Leu)
NM_000093.5(COL5A1):c.3562A>G (p.Ile1188Val) rs1588577285
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.5(COL5A1):c.3566del (p.Gly1189fs)
NM_000093.5(COL5A1):c.3570G>T (p.Gln1190His)
NM_000093.5(COL5A1):c.3576C>T (p.Gly1192=)
NM_000093.5(COL5A1):c.3578C>T (p.Pro1193Leu) rs2132844501
NM_000093.5(COL5A1):c.3582+7A>G
NM_000093.5(COL5A1):c.3582+9C>T rs1838518099
NM_000093.5(COL5A1):c.3583-17C>T
NM_000093.5(COL5A1):c.3583-33_3583-15del
NM_000093.5(COL5A1):c.3583-6dup rs773032514
NM_000093.5(COL5A1):c.3583-7C>G rs1330304599
NM_000093.5(COL5A1):c.3584_3585delinsAT (p.Gly1195Asp) rs1060502247
NM_000093.5(COL5A1):c.3597G>A (p.Glu1199=) rs2132844895
NM_000093.5(COL5A1):c.35C>A (p.Ala12Glu) rs995895784
NM_000093.5(COL5A1):c.3607C>T (p.Arg1203Trp)
NM_000093.5(COL5A1):c.3608G>A (p.Arg1203Gln) rs1838524385
NM_000093.5(COL5A1):c.3609G>C (p.Arg1203=) rs369518896
NM_000093.5(COL5A1):c.3613C>T (p.Gln1205Ter) rs2132844990
NM_000093.5(COL5A1):c.3617A>G (p.Gln1206Arg) rs1838524740
NM_000093.5(COL5A1):c.3627C>A (p.Phe1209Leu) rs748000980
NM_000093.5(COL5A1):c.3631C>T (p.Gln1211Ter) rs1307084213
NM_000093.5(COL5A1):c.3637G>A (p.Gly1213Ser)
NM_000093.5(COL5A1):c.3643G>A (p.Glu1215Lys) rs2132845104
NM_000093.5(COL5A1):c.3648T>C (p.Gly1216=) rs1588577626
NM_000093.5(COL5A1):c.364G>C (p.Glu122Gln) rs1588448757
NM_000093.5(COL5A1):c.365A>G (p.Glu122Gly) rs886063673
NM_000093.5(COL5A1):c.3662C>T (p.Pro1221Leu)
NM_000093.5(COL5A1):c.3667C>T (p.Pro1223Ser) rs1411675246
NM_000093.5(COL5A1):c.3671dup (p.Gly1225fs) rs2132845192
NM_000093.5(COL5A1):c.3684del (p.Leu1229fs) rs1564475090
NM_000093.5(COL5A1):c.3690+10G>A
NM_000093.5(COL5A1):c.3690+12G>A rs2132845317
NM_000093.5(COL5A1):c.3690+2dup rs2132845264
NM_000093.5(COL5A1):c.3690+8T>G
NM_000093.5(COL5A1):c.3690+8_3690+9del
NM_000093.5(COL5A1):c.3691-13T>G
NM_000093.5(COL5A1):c.3691-3C>A
NM_000093.5(COL5A1):c.3691-6T>C rs1187330689
NM_000093.5(COL5A1):c.3691-8del rs2132847274
NM_000093.5(COL5A1):c.3698C>T (p.Pro1233Leu) rs886039091
NM_000093.5(COL5A1):c.36G>A (p.Ala12=) rs1029930975
NM_000093.5(COL5A1):c.3703C>T (p.Pro1235Ser)
NM_000093.5(COL5A1):c.3711C>A (p.Gly1237=)
NM_000093.5(COL5A1):c.3711C>T (p.Gly1237=) rs763583510
NM_000093.5(COL5A1):c.3738C>A (p.Gly1246=)
NM_000093.5(COL5A1):c.3742A>G (p.Met1248Val) rs767843442
NM_000093.5(COL5A1):c.3744+11C>T
NM_000093.5(COL5A1):c.3744+16A>G
NM_000093.5(COL5A1):c.3744+6T>A
NM_000093.5(COL5A1):c.3744+9G>T
NM_000093.5(COL5A1):c.3745-15T>A
NM_000093.5(COL5A1):c.3745-4C>G
NM_000093.5(COL5A1):c.3746G>C (p.Gly1249Ala) rs533597740
NM_000093.5(COL5A1):c.3747C>G (p.Gly1249=)
NM_000093.5(COL5A1):c.3747C>T (p.Gly1249=)
NM_000093.5(COL5A1):c.374T>G (p.Ile125Ser) rs1833612402
NM_000093.5(COL5A1):c.3752C>T (p.Pro1251Leu)
NM_000093.5(COL5A1):c.3752del (p.Pro1251fs) rs786205100
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.5(COL5A1):c.3757C>T (p.Pro1253Ser)
NM_000093.5(COL5A1):c.3760C>T (p.Pro1254Ser) rs1554805125
NM_000093.5(COL5A1):c.3769C>T (p.Arg1257Ter) rs748870349
NM_000093.5(COL5A1):c.3772G>T (p.Gly1258Ter)
NM_000093.5(COL5A1):c.3781G>A (p.Gly1261Arg) rs772445337
NM_000093.5(COL5A1):c.3784G>A (p.Ala1262Thr) rs1211791316
NM_000093.5(COL5A1):c.3788del (p.Pro1263fs)
NM_000093.5(COL5A1):c.3805C>T (p.Gln1269Ter) rs1554805142
NM_000093.5(COL5A1):c.3807A>G (p.Gln1269=)
NM_000093.5(COL5A1):c.3811C>T (p.Pro1271Ser)
NM_000093.5(COL5A1):c.3812C>G (p.Pro1271Arg) rs771146636
NM_000093.5(COL5A1):c.3813C>T (p.Pro1271=)
NM_000093.5(COL5A1):c.3815C>T (p.Pro1272Leu) rs369684394
NM_000093.5(COL5A1):c.3827G>T (p.Gly1276Val) rs2132848301
NM_000093.5(COL5A1):c.3833_3846del (p.Pro1278fs) rs2132848313
NM_000093.5(COL5A1):c.3834T>C (p.Pro1278=)
NM_000093.5(COL5A1):c.3847G>A (p.Glu1283Lys)
NM_000093.5(COL5A1):c.3852+4A>T
NM_000093.5(COL5A1):c.3853-14C>A
NM_000093.5(COL5A1):c.3853-19A>G
NM_000093.5(COL5A1):c.3853-20C>T
NM_000093.5(COL5A1):c.3853-33_3853-17del
NM_000093.5(COL5A1):c.3853-8C>T
NM_000093.5(COL5A1):c.3859C>A (p.Pro1287Thr)
NM_000093.5(COL5A1):c.385G>A (p.Gly129Arg) rs2132569874
NM_000093.5(COL5A1):c.3869C>G (p.Ala1290Gly)
NM_000093.5(COL5A1):c.386G>A (p.Gly129Glu) rs1833612785
NM_000093.5(COL5A1):c.3873T>C (p.Gly1291=)
NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys) rs1319735007
NM_000093.5(COL5A1):c.3878C>T (p.Pro1293Leu)
NM_000093.5(COL5A1):c.3888G>T (p.Pro1296=) rs375631252
NM_000093.5(COL5A1):c.388C>G (p.Leu130Val)
NM_000093.5(COL5A1):c.3896G>A (p.Gly1299Asp)
NM_000093.5(COL5A1):c.3899G>C (p.Gly1300Ala)
NM_000093.5(COL5A1):c.3905C>G (p.Pro1302Arg) rs201920777
NM_000093.5(COL5A1):c.3905C>T (p.Pro1302Leu) rs201920777
NM_000093.5(COL5A1):c.3906+15G>A rs370937109
NM_000093.5(COL5A1):c.3906+15G>C rs370937109
NM_000093.5(COL5A1):c.3906+8A>G
NM_000093.5(COL5A1):c.3907-15G>C
NM_000093.5(COL5A1):c.3907-18C>G rs1838675880
NM_000093.5(COL5A1):c.3907-20C>T
NM_000093.5(COL5A1):c.3911C>T (p.Pro1304Leu) rs1554805618
NM_000093.5(COL5A1):c.3916G>A (p.Gly1306Arg) rs1588581652
NM_000093.5(COL5A1):c.3928G>A (p.Glu1310Lys)
NM_000093.5(COL5A1):c.3936C>A (p.Gly1312=) rs367804791
NM_000093.5(COL5A1):c.3939G>A (p.Glu1313=) rs886063676
NM_000093.5(COL5A1):c.3941C>T (p.Ser1314Leu) rs2132853691
NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser) rs1838678972
NM_000093.5(COL5A1):c.3953G>T (p.Gly1318Val)
NM_000093.5(COL5A1):c.3957T>C (p.Ala1319=)
NM_000093.5(COL5A1):c.3958G>T (p.Ala1320Ser)
NM_000093.5(COL5A1):c.3960C>G (p.Ala1320=)
NM_000093.5(COL5A1):c.3964C>A (p.Pro1322Thr)
NM_000093.5(COL5A1):c.3967C>T (p.Pro1323Ser)
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu) rs2132853817
NM_000093.5(COL5A1):c.3983C>T (p.Pro1328Leu)
NM_000093.5(COL5A1):c.3984T>G (p.Pro1328=)
NM_000093.5(COL5A1):c.3985C>T (p.Pro1329Ser) rs1462221629
NM_000093.5(COL5A1):c.3987C>G (p.Pro1329=) rs770802769
NM_000093.5(COL5A1):c.3988G>A (p.Gly1330Arg) rs1060502254
NM_000093.5(COL5A1):c.3999T>C (p.Gly1333=) rs1554805651
NM_000093.5(COL5A1):c.3G>T (p.Met1Ile)
NM_000093.5(COL5A1):c.4000C>T (p.Pro1334Ser) rs759198874
NM_000093.5(COL5A1):c.4005A>G (p.Lys1335=) rs2132853979
NM_000093.5(COL5A1):c.4014+10C>T rs1434635162
NM_000093.5(COL5A1):c.4014+12A>G
NM_000093.5(COL5A1):c.4015-13T>G
NM_000093.5(COL5A1):c.4015-18_4015-15del rs1360635637
NM_000093.5(COL5A1):c.4015-1G>A
NM_000093.5(COL5A1):c.401G>A (p.Arg134His) rs1442400098
NM_000093.5(COL5A1):c.4020A>C (p.Pro1340=) rs776564144
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000093.5(COL5A1):c.4039C>G (p.Pro1347Ala)
NM_000093.5(COL5A1):c.4039C>T (p.Pro1347Ser) rs769470285
NM_000093.5(COL5A1):c.4043G>C (p.Gly1348Ala) rs1060502252
NM_000093.5(COL5A1):c.4045C>A (p.Pro1349Thr)
NM_000093.5(COL5A1):c.4048C>A (p.Pro1350Thr)
NM_000093.5(COL5A1):c.4048C>G (p.Pro1350Ala) rs762699995
NM_000093.5(COL5A1):c.4049C>T (p.Pro1350Leu) rs1255890421
NM_000093.5(COL5A1):c.404C>T (p.Ser135Phe) rs201997623
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=) rs773853291
NM_000093.5(COL5A1):c.4050C>T (p.Pro1350=) rs773853291
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) rs758337699
NM_000093.5(COL5A1):c.4051G>A (p.Gly1351Arg)
NM_000093.5(COL5A1):c.4053A>C (p.Gly1351=)
NM_000093.5(COL5A1):c.4058C>T (p.Pro1353Leu)
NM_000093.5(COL5A1):c.4064C>T (p.Pro1355Leu) rs2132855475
NM_000093.5(COL5A1):c.4068+9T>A rs2132855525
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.5(COL5A1):c.4069-17C>T
NM_000093.5(COL5A1):c.4069-1G>T rs1564478485
NM_000093.5(COL5A1):c.4069-6C>T rs756079712
NM_000093.5(COL5A1):c.4073A>C (p.Gln1358Pro)
NM_000093.5(COL5A1):c.4076A>G (p.Asp1359Gly)
NM_000093.5(COL5A1):c.4081C>A (p.Pro1361Thr)
NM_000093.5(COL5A1):c.4081C>T (p.Pro1361Ser)
NM_000093.5(COL5A1):c.4082C>T (p.Pro1361Leu)
NM_000093.5(COL5A1):c.4083C>A (p.Pro1361=)
NM_000093.5(COL5A1):c.4083C>G (p.Pro1361=) rs868648962
NM_000093.5(COL5A1):c.4084C>T (p.Pro1362Ser) rs2132856128
NM_000093.5(COL5A1):c.4088del (p.Gly1363fs) rs2132856138
NM_000093.5(COL5A1):c.4095A>G (p.Lys1365=)
NM_000093.5(COL5A1):c.409G>T (p.Val137Phe) rs145757313
NM_000093.5(COL5A1):c.40C>T (p.Arg14Cys)
NM_000093.5(COL5A1):c.4110A>G (p.Glu1370=) rs1588583076
NM_000093.5(COL5A1):c.4114G>A (p.Gly1372Arg) rs1838729952
NM_000093.5(COL5A1):c.4122+12A>G
NM_000093.5(COL5A1):c.4122+1_4122+42dup rs2132856269
NM_000093.5(COL5A1):c.4122+4A>C
NM_000093.5(COL5A1):c.4122+4A>G
NM_000093.5(COL5A1):c.4123-10C>T rs1057524402
NM_000093.5(COL5A1):c.4123-11C>T
NM_000093.5(COL5A1):c.4123-17C>A
NM_000093.5(COL5A1):c.4123-4C>T
NM_000093.5(COL5A1):c.4123-6T>A
NM_000093.5(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_000093.5(COL5A1):c.4132G>T (p.Gly1378Cys)
NM_000093.5(COL5A1):c.4139C>A (p.Thr1380Asn) rs863223439
NM_000093.5(COL5A1):c.4144G>A (p.Glu1382Lys) rs1554806121
NM_000093.5(COL5A1):c.4150G>C (p.Gly1384Arg) rs2132858757
NM_000093.5(COL5A1):c.4158G>A (p.Ser1386=) rs1383677988
NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys) rs863223479
NM_000093.5(COL5A1):c.4176+11C>G
NM_000093.5(COL5A1):c.4176+17G>C
NM_000093.5(COL5A1):c.4176+20C>T rs2132858882
NM_000093.5(COL5A1):c.4177-11G>C
NM_000093.5(COL5A1):c.4177-16C>G
NM_000093.5(COL5A1):c.4177-18T>C rs922274540
NM_000093.5(COL5A1):c.4177-8T>G rs1838818747
NM_000093.5(COL5A1):c.4184CAGGCCCCG[3] (p.Ala1398_Pro1400dup) rs2132861348
NM_000093.5(COL5A1):c.4189C>T (p.Pro1397Ser) rs1838819571
NM_000093.5(COL5A1):c.4190C>G (p.Pro1397Arg)
NM_000093.5(COL5A1):c.4191C>T (p.Pro1397=)
NM_000093.5(COL5A1):c.4192G>T (p.Ala1398Ser) rs759464073
NM_000093.5(COL5A1):c.4197C>T (p.Gly1399=) rs1397888531
NM_000093.5(COL5A1):c.4200C>T (p.Pro1400=) rs752468183
NM_000093.5(COL5A1):c.4203del (p.Gly1402fs) rs1060502255
NM_000093.5(COL5A1):c.4212G>C (p.Gln1404His) rs1554806295
NM_000093.5(COL5A1):c.4214del (p.Gly1405fs)
NM_000093.5(COL5A1):c.4230+13G>A
NM_000093.5(COL5A1):c.4230+5C>A
NM_000093.5(COL5A1):c.4230+5_4230+6delinsTA
NM_000093.5(COL5A1):c.4230+7T>C
NM_000093.5(COL5A1):c.4231-11C>T
NM_000093.5(COL5A1):c.4231-12G>C
NM_000093.5(COL5A1):c.4231-16C>T rs1057522679
NM_000093.5(COL5A1):c.4231-2A>G
NM_000093.5(COL5A1):c.4231-3C>T
NM_000093.5(COL5A1):c.4231-7C>G
NM_000093.5(COL5A1):c.4238C>A (p.Ala1413Asp) rs1564480902
NM_000093.5(COL5A1):c.423G>A (p.Glu141=) rs2132569993
NM_000093.5(COL5A1):c.4245G>C (p.Leu1415Phe)
NM_000093.5(COL5A1):c.4251C>T (p.Gly1417=)
NM_000093.5(COL5A1):c.4252C>T (p.Pro1418Ser) rs796151769
NM_000093.5(COL5A1):c.4255C>T (p.Pro1419Ser)
NM_000093.5(COL5A1):c.4256C>T (p.Pro1419Leu) rs2132864006
NM_000093.5(COL5A1):c.4259G>A (p.Gly1420Glu)
NM_000093.5(COL5A1):c.4262A>T (p.Lys1421Met) rs1838864887
NM_000093.5(COL5A1):c.4266_4285del (p.Ile1425fs)
NM_000093.5(COL5A1):c.4273A>T (p.Ile1425Phe)
NM_000093.5(COL5A1):c.4275C>G (p.Ile1425Met) rs767372665
NM_000093.5(COL5A1):c.4282C>G (p.Gln1428Glu)
NM_000093.5(COL5A1):c.4282del (p.Gln1428fs) rs2132864123
NM_000093.5(COL5A1):c.4285_4286delinsTT (p.Gly1429Leu)
NM_000093.5(COL5A1):c.4287G>A (p.Gly1429=) rs936839849
NM_000093.5(COL5A1):c.4287G>C (p.Gly1429=) rs936839849
NM_000093.5(COL5A1):c.4289C>A (p.Ala1430Asp)
NM_000093.5(COL5A1):c.4297A>G (p.Lys1433Glu) rs1554806543
NM_000093.5(COL5A1):c.4315C>T (p.Leu1439Phe)
NM_000093.5(COL5A1):c.4318C>T (p.Arg1440Ter) rs2132864295
NM_000093.5(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_000093.5(COL5A1):c.431_432delinsAT (p.Thr144Asn) rs864622040
NM_000093.5(COL5A1):c.4326C>A (p.Ile1442=) rs942145911
NM_000093.5(COL5A1):c.432G>A (p.Thr144=) rs528963362
NM_000093.5(COL5A1):c.4338+5G>A rs1352729728
NM_000093.5(COL5A1):c.4338+7A>G
NM_000093.5(COL5A1):c.4338+9G>A
NM_000093.5(COL5A1):c.4339-15G>A
NM_000093.5(COL5A1):c.4339-3C>G rs545993723
NM_000093.5(COL5A1):c.4346A>G (p.Gln1449Arg)
NM_000093.5(COL5A1):c.4347A>G (p.Gln1449=) rs1300586902
NM_000093.5(COL5A1):c.4351C>A (p.Leu1451Ile) rs369740453
NM_000093.5(COL5A1):c.4351C>T (p.Leu1451Phe)
NM_000093.5(COL5A1):c.4358G>T (p.Gly1453Val) rs1588587440
NM_000093.5(COL5A1):c.4367G>T (p.Gly1456Val) rs1564481157
NM_000093.5(COL5A1):c.4368C>G (p.Gly1456=)
NM_000093.5(COL5A1):c.4368C>T (p.Gly1456=) rs1213186421
NM_000093.5(COL5A1):c.4369C>T (p.Pro1457Ser)
NM_000093.5(COL5A1):c.4370del (p.Pro1457fs)
NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn) rs577270517
NM_000093.5(COL5A1):c.4374C>A (p.Asp1458Glu) rs201335857
NM_000093.5(COL5A1):c.4378C>T (p.Pro1460Ser) rs773125713
NM_000093.5(COL5A1):c.4381C>G (p.Pro1461Ala)
NM_000093.5(COL5A1):c.4383dup (p.Gly1462fs) rs2132864817
NM_000093.5(COL5A1):c.4385del (p.Gly1462fs) rs2132864836
NM_000093.5(COL5A1):c.4387C>G (p.Pro1463Ala)
NM_000093.5(COL5A1):c.4389del (p.Met1464fs) rs2132864849
NM_000093.5(COL5A1):c.4392+10A>G
NM_000093.5(COL5A1):c.4392+11T>C
NM_000093.5(COL5A1):c.4392+14C>T
NM_000093.5(COL5A1):c.4392+6_4392+24dup
NM_000093.5(COL5A1):c.4393-13C>A
NM_000093.5(COL5A1):c.4393-15del
NM_000093.5(COL5A1):c.4393-16C>T
NM_000093.5(COL5A1):c.4393-1G>A
NM_000093.5(COL5A1):c.4393-6C>T rs2132865196
NM_000093.5(COL5A1):c.43C>T (p.Pro15Ser)
NM_000093.5(COL5A1):c.4408C>G (p.Pro1470Ala)
NM_000093.5(COL5A1):c.4415_4416insTTTG (p.Lys1473fs)
NM_000093.5(COL5A1):c.441T>C (p.Pro147=) rs1833615155
NM_000093.5(COL5A1):c.4423G>C (p.Asp1475His) rs1554806674
NM_000093.5(COL5A1):c.4426T>C (p.Ser1476Pro)
NM_000093.5(COL5A1):c.4446+14C>T rs1564481400
NM_000093.5(COL5A1):c.4446+9G>C
NM_000093.5(COL5A1):c.452A>G (p.Asp151Gly)
NM_000093.5(COL5A1):c.453C>G (p.Asp151Glu) rs373089071
NM_000093.5(COL5A1):c.456C>A (p.Tyr152Ter)
NM_000093.5(COL5A1):c.459C>A (p.Pro153=) rs1588448882
NM_000093.5(COL5A1):c.459C>T (p.Pro153=) rs1588448882
NM_000093.5(COL5A1):c.45G>A (p.Pro15=)
NM_000093.5(COL5A1):c.463T>C (p.Phe155Leu)
NM_000093.5(COL5A1):c.466C>T (p.Arg156Trp)
NM_000093.5(COL5A1):c.474_491+24del
NM_000093.5(COL5A1):c.484G>C (p.Asp162His) rs1564396342
NM_000093.5(COL5A1):c.491+10C>A rs757598488
NM_000093.5(COL5A1):c.491+11A>G
NM_000093.5(COL5A1):c.491+20C>T
NM_000093.5(COL5A1):c.491+3A>C rs1554781526
NM_000093.5(COL5A1):c.491+9G>A rs752150900
NM_000093.5(COL5A1):c.492-18C>T
NM_000093.5(COL5A1):c.494G>A (p.Trp165Ter) rs1588449879
NM_000093.5(COL5A1):c.495G>A (p.Trp165Ter)
NM_000093.5(COL5A1):c.499A>G (p.Arg167Gly)
NM_000093.5(COL5A1):c.49G>T (p.Ala17Ser)
NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[1] (p.Pro21_Leu24del)
NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[3] (p.Pro21_Leu24dup) rs1444295577
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.515T>A (p.Val172Asp) rs1554781678
NM_000093.5(COL5A1):c.519C>T (p.His173=)
NM_000093.5(COL5A1):c.527A>G (p.Asn176Ser)
NM_000093.5(COL5A1):c.531C>G (p.Val177=)
NM_000093.5(COL5A1):c.539T>C (p.Ile180Thr)
NM_000093.5(COL5A1):c.53C>G (p.Pro18Arg)
NM_000093.5(COL5A1):c.543C>G (p.Leu181=)
NM_000093.5(COL5A1):c.544G>T (p.Asp182Tyr)
NM_000093.5(COL5A1):c.547_576dup (p.Asp192_Arg193insCysLysLysLysThrThrLysPheLeuAsp)
NM_000093.5(COL5A1):c.548G>A (p.Cys183Tyr) rs1060502251
NM_000093.5(COL5A1):c.561C>G (p.Thr187=)
NM_000093.5(COL5A1):c.576C>A (p.Asp192Glu)
NM_000093.5(COL5A1):c.576C>T (p.Asp192=)
NM_000093.5(COL5A1):c.589C>T (p.Pro197Ser)
NM_000093.5(COL5A1):c.58C>T (p.Leu20=)
NM_000093.5(COL5A1):c.590C>T (p.Pro197Leu) rs1365787866
NM_000093.5(COL5A1):c.592A>G (p.Met198Val) rs1833664488
NM_000093.5(COL5A1):c.597C>T (p.Ile199=) rs147008954
NM_000093.5(COL5A1):c.601A>C (p.Ile201Leu) rs371351417
NM_000093.5(COL5A1):c.608G>A (p.Gly203Asp)
NM_000093.5(COL5A1):c.611T>C (p.Ile204Thr) rs773693941
NM_000093.5(COL5A1):c.615C>T (p.Ile205=)
NM_000093.5(COL5A1):c.616G>A (p.Val206Met)
NM_000093.5(COL5A1):c.621T>G (p.Phe207Leu)
NM_000093.5(COL5A1):c.626C>T (p.Thr209Ile)
NM_000093.5(COL5A1):c.63C>T (p.Pro21=)
NM_000093.5(COL5A1):c.640G>A (p.Glu214Lys) rs763107415
NM_000093.5(COL5A1):c.643G>T (p.Glu215Ter) rs2132573338
NM_000093.5(COL5A1):c.646G>T (p.Val216Leu)
NM_000093.5(COL5A1):c.654+14C>T
NM_000093.5(COL5A1):c.655-17C>A
NM_000093.5(COL5A1):c.655-17C>T rs560814216
NM_000093.5(COL5A1):c.655-1917_690del
NM_000093.5(COL5A1):c.655-20G>T
NM_000093.5(COL5A1):c.655-2A>G rs786205101
NM_000093.5(COL5A1):c.655-2A>T rs786205101
NM_000093.5(COL5A1):c.655-9C>G
NM_000093.5(COL5A1):c.655-9_655-7del
NM_000093.5(COL5A1):c.668A>C (p.Gln223Pro)
NM_000093.5(COL5A1):c.668A>G (p.Gln223Arg) rs1554787531
NM_000093.5(COL5A1):c.669G>A (p.Gln223=) rs1300899218
NM_000093.5(COL5A1):c.675C>G (p.Leu225=)
NM_000093.5(COL5A1):c.678T>C (p.Phe226=)
NM_000093.5(COL5A1):c.67CTG[4] (p.Leu27_Leu28del)
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.67CTG[9] (p.Leu26_Leu28dup) rs773994971
NM_000093.5(COL5A1):c.707A>G (p.Tyr236Cys) rs2132632715
NM_000093.5(COL5A1):c.708C>A (p.Tyr236Ter)
NM_000093.5(COL5A1):c.710G>A (p.Cys237Tyr) rs1588475947
NM_000093.5(COL5A1):c.716A>G (p.His239Arg)
NM_000093.5(COL5A1):c.71T>A (p.Leu24Gln)
NM_000093.5(COL5A1):c.722G>A (p.Ser241Asn)
NM_000093.5(COL5A1):c.729C>G (p.Asp243Glu) rs1834700553
NM_000093.5(COL5A1):c.730T>C (p.Cys244Arg)
NM_000093.5(COL5A1):c.731G>A (p.Cys244Tyr)
NM_000093.5(COL5A1):c.731G>C (p.Cys244Ser)
NM_000093.5(COL5A1):c.74T>G (p.Leu25Arg) rs1831316527
NM_000093.5(COL5A1):c.753C>A (p.Thr251=) rs374813957
NM_000093.5(COL5A1):c.75G>A (p.Leu25=) rs2132455041
NM_000093.5(COL5A1):c.761C>A (p.Ser254Ter) rs144844792
NM_000093.5(COL5A1):c.762G>A (p.Ser254=) rs767928508
NM_000093.5(COL5A1):c.775C>G (p.Pro259Ala)
NM_000093.5(COL5A1):c.77_85del (p.Leu26_Trp29delinsArg) rs1831316736
NM_000093.5(COL5A1):c.780T>C (p.Asp260=) rs1588476059
NM_000093.5(COL5A1):c.786+11T>C
NM_000093.5(COL5A1):c.786+15G>T
NM_000093.5(COL5A1):c.786+18G>A
NM_000093.5(COL5A1):c.786+1G>A
NM_000093.5(COL5A1):c.786+5G>A rs2132632978
NM_000093.5(COL5A1):c.786+5G>T
NM_000093.5(COL5A1):c.786+8_786+12del rs1564414492
NM_000093.5(COL5A1):c.787-13A>G
NM_000093.5(COL5A1):c.787-15G>T
NM_000093.5(COL5A1):c.787-16del
NM_000093.5(COL5A1):c.787-8G>A rs780803048
NM_000093.5(COL5A1):c.787-8G>C rs780803048
NM_000093.5(COL5A1):c.787-8G>T
NM_000093.5(COL5A1):c.787-9C>T rs751472921
NM_000093.5(COL5A1):c.792G>A (p.Thr264=) rs757360763
NM_000093.5(COL5A1):c.792G>T (p.Thr264=) rs757360763
NM_000093.5(COL5A1):c.7G>T (p.Val3Phe) rs1383699147
NM_000093.5(COL5A1):c.802G>A (p.Gly268Ser) rs748603743
NM_000093.5(COL5A1):c.807G>A (p.Glu269=)
NM_000093.5(COL5A1):c.808G>T (p.Gly270Cys) rs1834748686
NM_000093.5(COL5A1):c.830A>G (p.Tyr277Cys)
NM_000093.5(COL5A1):c.834C>T (p.Pro278=)
NM_000093.5(COL5A1):c.838T>G (p.Tyr280Asp) rs1834749472
NM_000093.5(COL5A1):c.840C>T (p.Tyr280=)
NM_000093.5(COL5A1):c.841G>A (p.Glu281Lys)
NM_000093.5(COL5A1):c.849del (p.Glu284fs) rs1588477255
NM_000093.5(COL5A1):c.851A>G (p.Glu284Gly)
NM_000093.5(COL5A1):c.857T>C (p.Leu286Pro)
NM_000093.5(COL5A1):c.858A>G (p.Leu286=)
NM_000093.5(COL5A1):c.860G>A (p.Gly287Glu) rs1588477287
NM_000093.5(COL5A1):c.861G>T (p.Gly287=)
NM_000093.5(COL5A1):c.865G>T (p.Glu289Ter)
NM_000093.5(COL5A1):c.867G>A (p.Glu289=)
NM_000093.5(COL5A1):c.868C>T (p.Pro290Ser) rs754640324
NM_000093.5(COL5A1):c.873C>A (p.Thr291=) rs1834751406
NM_000093.5(COL5A1):c.876dup (p.Ser293fs) rs1834751333
NM_000093.5(COL5A1):c.889G>A (p.Val297Met)
NM_000093.5(COL5A1):c.891G>A (p.Val297=)
NM_000093.5(COL5A1):c.904G>T (p.Glu302Ter) rs1554787811
NM_000093.5(COL5A1):c.91C>A (p.Pro31Thr)
NM_000093.5(COL5A1):c.921C>A (p.Pro307=)
NM_000093.5(COL5A1):c.922G>A (p.Glu308Lys) rs770173348
NM_000093.5(COL5A1):c.924+14G>C
NM_000093.5(COL5A1):c.924+15G>A
NM_000093.5(COL5A1):c.924+16G>C
NM_000093.5(COL5A1):c.924+17G>A
NM_000093.5(COL5A1):c.924+18G>A
NM_000093.5(COL5A1):c.924+8C>G rs2132635461
NM_000093.5(COL5A1):c.925-11T>C
NM_000093.5(COL5A1):c.925-11T>G
NM_000093.5(COL5A1):c.925-12C>T
NM_000093.5(COL5A1):c.925-2A>C rs2132639011
NM_000093.5(COL5A1):c.927G>A (p.Glu309=)
NM_000093.5(COL5A1):c.92C>A (p.Pro31Gln) rs1410664123
NM_000093.5(COL5A1):c.935C>G (p.Pro312Arg) rs367726185
NM_000093.5(COL5A1):c.935C>T (p.Pro312Leu) rs367726185
NM_000093.5(COL5A1):c.935_936delinsTC (p.Pro312Leu)
NM_000093.5(COL5A1):c.940C>G (p.Pro314Ala)
NM_000093.5(COL5A1):c.957C>T (p.Pro319=) rs2132639092
NM_000093.5(COL5A1):c.959T>A (p.Met320Lys)
NM_000093.5(COL5A1):c.95C>A (p.Pro32His)
NM_000093.5(COL5A1):c.960G>A (p.Met320Ile)
NM_000093.5(COL5A1):c.983G>A (p.Gly328Glu) rs576742644
NM_000093.5(COL5A1):c.993G>A (p.Glu331=) rs1834830929
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) rs1554803622

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