ClinVar Miner

List of variants in gene COL5A1 reported as likely benign for Ehlers-Danlos syndrome, classic type, 1

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Gene type:
ClinVar version:
Total variants: 894
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
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.4066G>A (p.Ala1356Thr) rs147868179 0.00070
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00067
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.2096C>T (p.Thr699Met) rs142313124 0.00057
NM_000093.5(COL5A1):c.597C>G (p.Ile199Met) rs147008954 0.00054
NM_000093.5(COL5A1):c.3690+6T>A rs375998368 0.00038
NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=) rs138251296 0.00037
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn) rs142890619 0.00034
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) rs142114921 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
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.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.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.1569+20G>A rs200690483 0.00016
NM_000093.5(COL5A1):c.2287-16T>G rs201161949 0.00016
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=) rs368551709 0.00016
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.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.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.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_000093.5(COL5A1):c.2677G>A (p.Ala893Thr) rs146195310 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.1350C>T (p.Gly450=) rs576332528 0.00010
NM_000093.5(COL5A1):c.1428C>T (p.Pro476=) rs745633063 0.00010
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754 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.1570-7C>T rs566717644 0.00009
NM_000093.5(COL5A1):c.1935+12C>T rs368245632 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.3870A>G (p.Ala1290=) rs541963919 0.00009
NM_000093.5(COL5A1):c.4068+7G>A rs587780905 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
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.3111G>A (p.Thr1037=) rs758336822 0.00007
NM_000093.5(COL5A1):c.3115-10C>T rs1018752469 0.00007
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629 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.2646+14G>A rs200583777 0.00006
NM_000093.5(COL5A1):c.2655T>C (p.Ile885=) rs746323129 0.00006
NM_000093.5(COL5A1):c.3205-18C>G rs199557977 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 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.408C>T (p.Pro136=) rs376435758 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.1165-8C>T rs770303209 0.00005
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=) rs376478864 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.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.3087G>A (p.Pro1029=) rs774035950 0.00005
NM_000093.5(COL5A1):c.3369C>T (p.Gly1123=) rs546229885 0.00005
NM_000093.5(COL5A1):c.4068+11A>G rs371926479 0.00005
NM_000093.5(COL5A1):c.4239C>T (p.Ala1413=) rs537406193 0.00005
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu) rs370311038 0.00004
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00004
NM_000093.5(COL5A1):c.1372C>T (p.Pro458Ser) rs537950589 0.00004
NM_000093.5(COL5A1):c.1527C>T (p.Ala509=) rs746510456 0.00004
NM_000093.5(COL5A1):c.219C>T (p.Val73=) rs774691915 0.00004
NM_000093.5(COL5A1):c.2268C>T (p.Pro756=) rs367755808 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.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.476A>G (p.Asn159Ser) rs551016059 0.00004
NM_000093.5(COL5A1):c.945G>A (p.Thr315=) rs149123775 0.00004
NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr) rs762108965 0.00003
NM_000093.5(COL5A1):c.1263C>T (p.Tyr421=) rs373846823 0.00003
NM_000093.5(COL5A1):c.1587C>T (p.Gly529=) rs529255491 0.00003
NM_000093.5(COL5A1):c.1827+11C>T rs374795810 0.00003
NM_000093.5(COL5A1):c.192G>A (p.Thr64=) rs746717050 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.2430+7C>A rs569413440 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.2899-13G>T rs761096695 0.00003
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=) rs760754491 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.3786T>G (p.Ala1262=) rs1233949819 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.4386C>T (p.Gly1462=) rs759256816 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.735C>T (p.Asp245=) rs746769184 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.1284G>A (p.Ser428=) rs745575705 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.1431+10C>T rs1176378428 0.00002
NM_000093.5(COL5A1):c.1431+11G>A rs768116740 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.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.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.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.2808C>T (p.Ser936=) rs142849628 0.00002
NM_000093.5(COL5A1):c.2895C>G (p.Pro965=) rs765189446 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.3627C>T (p.Phe1209=) rs748000980 0.00002
NM_000093.5(COL5A1):c.3732C>T (p.Asp1244=) rs377422775 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.3898G>A (p.Gly1300Ser) rs769814019 0.00002
NM_000093.5(COL5A1):c.3906+7G>A rs200333878 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.57G>A (p.Leu19=) rs761259908 0.00002
NM_000093.5(COL5A1):c.655-16G>A rs371301230 0.00002
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.1119G>A (p.Gly373=) rs1060504528 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.1157C>T (p.Ser386Phe) rs773041897 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.1272C>A (p.Thr424=) rs758427503 0.00001
NM_000093.5(COL5A1):c.1308G>A (p.Ala436=) rs200959477 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.1390-18C>T rs1323115421 0.00001
NM_000093.5(COL5A1):c.1401C>T (p.Ile467=) rs1452745305 0.00001
NM_000093.5(COL5A1):c.1431+20C>A rs766773815 0.00001
NM_000093.5(COL5A1):c.1497C>T (p.Gly499=) rs1473955537 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.1701A>C (p.Thr567=) rs143647239 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.186C>T (p.Cys62=) rs778516121 0.00001
NM_000093.5(COL5A1):c.1882-4G>T rs1253885983 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.1989+15G>A rs765969450 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.2073T>A (p.Gly691=) rs1037184070 0.00001
NM_000093.5(COL5A1):c.2133+9C>T rs765287192 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.2226A>G (p.Gly742=) rs1338817325 0.00001
NM_000093.5(COL5A1):c.2238C>T (p.Pro746=) rs373617798 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.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.2485-11C>T rs756350498 0.00001
NM_000093.5(COL5A1):c.2485-18C>T rs757531928 0.00001
NM_000093.5(COL5A1):c.2538G>A (p.Lys846=) rs751065864 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.2646+12C>T rs751662116 0.00001
NM_000093.5(COL5A1):c.2649C>T (p.Gly883=) rs770622608 0.00001
NM_000093.5(COL5A1):c.2701-12C>G rs751422216 0.00001
NM_000093.5(COL5A1):c.2739C>T (p.Gly913=) rs1449725761 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.2770C>T (p.Arg924Trp) rs1472700264 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.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.2907A>G (p.Pro969=) rs1281296909 0.00001
NM_000093.5(COL5A1):c.2967G>A (p.Lys989=) rs1838131061 0.00001
NM_000093.5(COL5A1):c.2985C>T (p.Pro995=) rs768883188 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.3099A>G (p.Gly1033=) rs1016663584 0.00001
NM_000093.5(COL5A1):c.3120C>T (p.Asp1040=) rs1216403908 0.00001
NM_000093.5(COL5A1):c.3167G>A (p.Arg1056His) rs778769810 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.3299C>T (p.Pro1100Leu) rs564375308 0.00001
NM_000093.5(COL5A1):c.3344C>T (p.Pro1115Leu) rs139039658 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+15G>A rs541481267 0.00001
NM_000093.5(COL5A1):c.3529-5C>T rs755227263 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.363C>T (p.Asn121=) rs369180922 0.00001
NM_000093.5(COL5A1):c.3642T>C (p.Asp1214=) rs1351482667 0.00001
NM_000093.5(COL5A1):c.3654A>G (p.Arg1218=) rs1330978908 0.00001
NM_000093.5(COL5A1):c.3669C>T (p.Pro1223=) rs770392149 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.3852+10G>A rs749190469 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.3961G>A (p.Gly1321Arg) rs1034436638 0.00001
NM_000093.5(COL5A1):c.4011C>T (p.Ser1337=) rs1363178603 0.00001
NM_000093.5(COL5A1):c.4069-4A>G rs377325113 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.4198C>T (p.Pro1400Ser) rs765217611 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.4302C>T (p.Pro1434=) rs755495352 0.00001
NM_000093.5(COL5A1):c.4338+18G>C rs781247782 0.00001
NM_000093.5(COL5A1):c.4351C>G (p.Leu1451Val) rs369740453 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.4446+16C>T rs1392869887 0.00001
NM_000093.5(COL5A1):c.456C>T (p.Tyr152=) rs1833616245 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.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.582C>T (p.Ser194=) rs563191799 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.702T>C (p.Tyr234=) rs767696801 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.801C>T (p.Asp267=) rs778401280 0.00001
NM_000093.5(COL5A1):c.825C>T (p.Tyr275=) rs771253587 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.987G>A (p.Lys329=) rs769516996 0.00001
NM_000093.5(COL5A1):c.1006G>A (p.Gly336Arg)
NM_000093.5(COL5A1):c.1008G>A (p.Gly336=) rs2132639237
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.1057G>C (p.Asp353His)
NM_000093.5(COL5A1):c.1063C>T (p.Leu355Phe)
NM_000093.5(COL5A1):c.1070A>T (p.Tyr357Phe)
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.110-10G>A rs746555918
NM_000093.5(COL5A1):c.110-14C>T
NM_000093.5(COL5A1):c.1114G>T (p.Ala372Ser) rs755289850
NM_000093.5(COL5A1):c.1115C>A (p.Ala372Asp) rs201829822
NM_000093.5(COL5A1):c.1122C>G (p.Ala374=) rs758640551
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.1170T>G (p.Ala390=) rs1588480757
NM_000093.5(COL5A1):c.1191G>A (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1224G>A (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1224G>T (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1271C>G (p.Thr424Ser) rs752619850
NM_000093.5(COL5A1):c.127C>T (p.Leu43=) rs2132550837
NM_000093.5(COL5A1):c.1290C>T (p.Ile430=) rs572136244
NM_000093.5(COL5A1):c.1296G>A (p.Pro432=)
NM_000093.5(COL5A1):c.1305G>A (p.Pro435=)
NM_000093.5(COL5A1):c.1322T>C (p.Ile441Thr)
NM_000093.5(COL5A1):c.1332+7G>A rs1834886446
NM_000093.5(COL5A1):c.1333-11A>T
NM_000093.5(COL5A1):c.1333-20C>T
NM_000093.5(COL5A1):c.1333-8A>C rs145620416
NM_000093.5(COL5A1):c.1356A>G (p.Lys452=)
NM_000093.5(COL5A1):c.1374A>G (p.Pro458=)
NM_000093.5(COL5A1):c.1377G>A (p.Ala459=) rs746091599
NM_000093.5(COL5A1):c.1384G>A (p.Glu462Lys) rs761770226
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.1390-6C>T rs1381061693
NM_000093.5(COL5A1):c.1402G>C (p.Glu468Gln)
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.1431+16del rs2132655351
NM_000093.5(COL5A1):c.1432-18C>T rs761261485
NM_000093.5(COL5A1):c.1432-8A>G
NM_000093.5(COL5A1):c.1445C>T (p.Pro482Leu) rs565329216
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.1495-6C>T
NM_000093.5(COL5A1):c.1495-7T>A rs1835738568
NM_000093.5(COL5A1):c.1521T>G (p.Pro507=) rs1835740030
NM_000093.5(COL5A1):c.1548A>G (p.Pro516=)
NM_000093.5(COL5A1):c.1569+10dup rs1394440955
NM_000093.5(COL5A1):c.1569+15C>G
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.1590C>T (p.Gly530=) rs769010469
NM_000093.5(COL5A1):c.1596G>T (p.Ala532=)
NM_000093.5(COL5A1):c.15C>A (p.Thr5=)
NM_000093.5(COL5A1):c.1617C>T (p.Val539=)
NM_000093.5(COL5A1):c.1620A>C (p.Ser540=) rs1033262221
NM_000093.5(COL5A1):c.162A>G (p.Gly54=)
NM_000093.5(COL5A1):c.1631C>T (p.Ser544Phe)
NM_000093.5(COL5A1):c.1638G>T (p.Ala546=) rs775508023
NM_000093.5(COL5A1):c.1650C>T (p.Leu550=)
NM_000093.5(COL5A1):c.1662+11C>T rs2132683374
NM_000093.5(COL5A1):c.1662+15_1662+22dup
NM_000093.5(COL5A1):c.1668A>C (p.Ala556=)
NM_000093.5(COL5A1):c.1688C>T (p.Pro563Leu) rs753260027
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.1720-14C>T
NM_000093.5(COL5A1):c.1720-16C>T
NM_000093.5(COL5A1):c.1724C>A (p.Pro575His)
NM_000093.5(COL5A1):c.1725C>T (p.Pro575=)
NM_000093.5(COL5A1):c.1749C>T (p.Gly583=)
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala) rs751649145
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.1774-7del
NM_000093.5(COL5A1):c.1774-8C>T rs1411915444
NM_000093.5(COL5A1):c.1782A>T (p.Arg594=)
NM_000093.5(COL5A1):c.1787T>C (p.Val596Ala) rs754773665
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.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.1863T>G (p.Pro621=)
NM_000093.5(COL5A1):c.1881+14C>T
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.1920C>A (p.Gly640=) rs781663334
NM_000093.5(COL5A1):c.1921G>A (p.Glu641Lys)
NM_000093.5(COL5A1):c.1929C>T (p.Gly643=)
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.1953C>A (p.Ser651=)
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=) rs370766020
NM_000093.5(COL5A1):c.1989+14C>T
NM_000093.5(COL5A1):c.1989+17C>T rs981100115
NM_000093.5(COL5A1):c.198A>G (p.Arg66=) rs1463204835
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.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.2034+16G>C
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.2047C>T (p.Leu683=)
NM_000093.5(COL5A1):c.2049G>C (p.Leu683=) rs1060504529
NM_000093.5(COL5A1):c.2070A>G (p.Pro690=) rs1060504527
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.2106C>T (p.Asp702=)
NM_000093.5(COL5A1):c.2115G>A (p.Pro705=)
NM_000093.5(COL5A1):c.2133+13G>A
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.213G>C (p.Pro71=)
NM_000093.5(COL5A1):c.213G>T (p.Pro71=) rs775666676
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.2159C>T (p.Pro720Leu)
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.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.2208T>A (p.Gly736=) rs2132729303
NM_000093.5(COL5A1):c.220G>A (p.Ala74Thr)
NM_000093.5(COL5A1):c.2232+17T>G
NM_000093.5(COL5A1):c.2232+20G>A rs2132729412
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.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.2316A>G (p.Gly772=)
NM_000093.5(COL5A1):c.2331+12C>T
NM_000093.5(COL5A1):c.2331+7G>C rs2132742244
NM_000093.5(COL5A1):c.2332-14C>G
NM_000093.5(COL5A1):c.2332-20C>T rs1588534559
NM_000093.5(COL5A1):c.2334T>C (p.Gly778=)
NM_000093.5(COL5A1):c.2346C>T (p.Pro782=)
NM_000093.5(COL5A1):c.2385+13C>A
NM_000093.5(COL5A1):c.2385+19A>G
NM_000093.5(COL5A1):c.2386-10A>C rs2132759970
NM_000093.5(COL5A1):c.2386-6G>T
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.2430+11C>T
NM_000093.5(COL5A1):c.2430+20_2430+21inv
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.2448T>G (p.Pro816=)
NM_000093.5(COL5A1):c.2451G>T (p.Gly817=) rs1554798928
NM_000093.5(COL5A1):c.2478T>C (p.Gly826=)
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.2496C>G (p.Gly832=)
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.2555A>G (p.Asn852Ser) rs148146480
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.2592+20C>A
NM_000093.5(COL5A1):c.2593-10C>G
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.2647-9C>G rs757930358
NM_000093.5(COL5A1):c.2647-9C>T
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.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+20T>G
NM_000093.5(COL5A1):c.2701-10C>T
NM_000093.5(COL5A1):c.2701-11T>C
NM_000093.5(COL5A1):c.2703G>C (p.Gly901=)
NM_000093.5(COL5A1):c.2724G>C (p.Pro908=) rs41310207
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>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.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.2793C>A (p.Gly931=)
NM_000093.5(COL5A1):c.2799+10T>C rs941515036
NM_000093.5(COL5A1):c.2799+10_2799+19del
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.2800-19C>A
NM_000093.5(COL5A1):c.2800-19C>G
NM_000093.5(COL5A1):c.2800-19C>T
NM_000093.5(COL5A1):c.2811A>G (p.Gly937=)
NM_000093.5(COL5A1):c.2841A>G (p.Glu947=)
NM_000093.5(COL5A1):c.2844+20G>C
NM_000093.5(COL5A1):c.2844+20G>T
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.2853T>C (p.Asn951=)
NM_000093.5(COL5A1):c.2895C>T (p.Pro965=)
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.291C>T (p.Pro97=)
NM_000093.5(COL5A1):c.2952+10_2952+11delinsAT
NM_000093.5(COL5A1):c.2952+16del
NM_000093.5(COL5A1):c.2952+20G>A
NM_000093.5(COL5A1):c.2953-10C>T
NM_000093.5(COL5A1):c.2953-14CT[3]
NM_000093.5(COL5A1):c.2970C>G (p.Thr990=) rs548678914
NM_000093.5(COL5A1):c.2975C>T (p.Pro992Leu)
NM_000093.5(COL5A1):c.2982C>G (p.Gly994=)
NM_000093.5(COL5A1):c.2983C>G (p.Pro995Ala) rs187022757
NM_000093.5(COL5A1):c.2986C>A (p.Pro996Thr)
NM_000093.5(COL5A1):c.2988C>T (p.Pro996=) rs374409202
NM_000093.5(COL5A1):c.2997C>G (p.Val999=)
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.3007-7C>T
NM_000093.5(COL5A1):c.3015G>T (p.Thr1005=) rs751265351
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.3084T>C (p.Leu1028=) rs2132822335
NM_000093.5(COL5A1):c.309A>T (p.Leu103=)
NM_000093.5(COL5A1):c.3114+10T>C rs1057523401
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.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.3171T>C (p.Gly1057=) rs943030077
NM_000093.5(COL5A1):c.3189G>A (p.Gly1063=)
NM_000093.5(COL5A1):c.318G>A (p.Val106=) rs372181142
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.3205-5T>C
NM_000093.5(COL5A1):c.3234G>C (p.Gly1078=)
NM_000093.5(COL5A1):c.3236C>A (p.Pro1079His)
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.3259-11C>G
NM_000093.5(COL5A1):c.3259-11C>T
NM_000093.5(COL5A1):c.3259-12G>T
NM_000093.5(COL5A1):c.3261A>T (p.Gly1087=)
NM_000093.5(COL5A1):c.3270G>A (p.Gly1090=)
NM_000093.5(COL5A1):c.3303C>A (p.Ile1101=) rs760754491
NM_000093.5(COL5A1):c.3312A>G (p.Pro1104=) rs1554803839
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.3384A>G (p.Gln1128=)
NM_000093.5(COL5A1):c.3414G>A (p.Gly1138=)
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.3442C>T (p.Pro1148Ser)
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.3475-4C>T
NM_000093.5(COL5A1):c.3475-7C>A
NM_000093.5(COL5A1):c.3487G>A (p.Glu1163Lys)
NM_000093.5(COL5A1):c.3528+13A>G
NM_000093.5(COL5A1):c.3528+14C>G
NM_000093.5(COL5A1):c.3529-16G>C
NM_000093.5(COL5A1):c.3529-8C>T
NM_000093.5(COL5A1):c.3546A>T (p.Thr1182=)
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.5(COL5A1):c.3576C>T (p.Gly1192=)
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.3583-6dup rs773032514
NM_000093.5(COL5A1):c.3597G>A (p.Glu1199=) rs2132844895
NM_000093.5(COL5A1):c.3609G>C (p.Arg1203=) rs369518896
NM_000093.5(COL5A1):c.3690+10G>A
NM_000093.5(COL5A1):c.3690+12G>A rs2132845317
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.3691-6T>C rs1187330689
NM_000093.5(COL5A1):c.3691-8del rs2132847274
NM_000093.5(COL5A1):c.36G>A (p.Ala12=) rs1029930975
NM_000093.5(COL5A1):c.3711C>A (p.Gly1237=)
NM_000093.5(COL5A1):c.3744+11C>T
NM_000093.5(COL5A1):c.3744+16A>G
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.3747C>G (p.Gly1249=)
NM_000093.5(COL5A1):c.3747C>T (p.Gly1249=)
NM_000093.5(COL5A1):c.3752C>T (p.Pro1251Leu)
NM_000093.5(COL5A1):c.3807A>G (p.Gln1269=)
NM_000093.5(COL5A1):c.3813C>T (p.Pro1271=)
NM_000093.5(COL5A1):c.3834T>C (p.Pro1278=)
NM_000093.5(COL5A1):c.3847G>A (p.Glu1283Lys)
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.3869C>G (p.Ala1290Gly)
NM_000093.5(COL5A1):c.3888G>T (p.Pro1296=) rs375631252
NM_000093.5(COL5A1):c.3896G>A (p.Gly1299Asp)
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.3936C>A (p.Gly1312=) rs367804791
NM_000093.5(COL5A1):c.3939G>A (p.Glu1313=) rs886063676
NM_000093.5(COL5A1):c.3957T>C (p.Ala1319=)
NM_000093.5(COL5A1):c.3960C>G (p.Ala1320=)
NM_000093.5(COL5A1):c.3967C>T (p.Pro1323Ser)
NM_000093.5(COL5A1):c.3984T>G (p.Pro1328=)
NM_000093.5(COL5A1):c.3987C>G (p.Pro1329=) rs770802769
NM_000093.5(COL5A1):c.3999T>C (p.Gly1333=) rs1554805651
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.4020A>C (p.Pro1340=) rs776564144
NM_000093.5(COL5A1):c.4045C>A (p.Pro1349Thr)
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.4053A>C (p.Gly1351=)
NM_000093.5(COL5A1):c.4058C>T (p.Pro1353Leu)
NM_000093.5(COL5A1):c.4068+9T>A rs2132855525
NM_000093.5(COL5A1):c.4069-17C>T
NM_000093.5(COL5A1):c.4069-6C>T rs756079712
NM_000093.5(COL5A1):c.4076A>G (p.Asp1359Gly)
NM_000093.5(COL5A1):c.4081C>A (p.Pro1361Thr)
NM_000093.5(COL5A1):c.4083C>A (p.Pro1361=)
NM_000093.5(COL5A1):c.4083C>G (p.Pro1361=) rs868648962
NM_000093.5(COL5A1):c.4095A>G (p.Lys1365=)
NM_000093.5(COL5A1):c.4122+12A>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.4158G>A (p.Ser1386=) rs1383677988
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.4191C>T (p.Pro1397=)
NM_000093.5(COL5A1):c.4200C>T (p.Pro1400=) rs752468183
NM_000093.5(COL5A1):c.4230+13G>A
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.4231-7C>G
NM_000093.5(COL5A1):c.4251C>T (p.Gly1417=)
NM_000093.5(COL5A1):c.4252C>T (p.Pro1418Ser) rs796151769
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.4326C>A (p.Ile1442=) rs942145911
NM_000093.5(COL5A1):c.432G>A (p.Thr144=) rs528963362
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.4347A>G (p.Gln1449=) rs1300586902
NM_000093.5(COL5A1):c.4368C>G (p.Gly1456=)
NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn) rs577270517
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.4393-15del
NM_000093.5(COL5A1):c.4393-16C>T
NM_000093.5(COL5A1):c.4393-6C>T rs2132865196
NM_000093.5(COL5A1):c.441T>C (p.Pro147=) rs1833615155
NM_000093.5(COL5A1):c.4446+14C>T rs1564481400
NM_000093.5(COL5A1):c.4446+9G>C
NM_000093.5(COL5A1):c.459C>A (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.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+9G>A rs752150900
NM_000093.5(COL5A1):c.492-18C>T
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.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.543C>G (p.Leu181=)
NM_000093.5(COL5A1):c.561C>G (p.Thr187=)
NM_000093.5(COL5A1):c.576C>T (p.Asp192=)
NM_000093.5(COL5A1):c.58C>T (p.Leu20=)
NM_000093.5(COL5A1):c.597C>T (p.Ile199=) rs147008954
NM_000093.5(COL5A1):c.611T>C (p.Ile204Thr) rs773693941
NM_000093.5(COL5A1):c.615C>T (p.Ile205=)
NM_000093.5(COL5A1):c.63C>T (p.Pro21=)
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.655-20G>T
NM_000093.5(COL5A1):c.655-9C>G
NM_000093.5(COL5A1):c.655-9_655-7del
NM_000093.5(COL5A1):c.675C>G (p.Leu225=)
NM_000093.5(COL5A1):c.678T>C (p.Phe226=)
NM_000093.5(COL5A1):c.67C>G (p.Leu23Val)
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.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+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.807G>A (p.Glu269=)
NM_000093.5(COL5A1):c.834C>T (p.Pro278=)
NM_000093.5(COL5A1):c.858A>G (p.Leu286=)
NM_000093.5(COL5A1):c.867G>A (p.Glu289=)
NM_000093.5(COL5A1):c.873C>A (p.Thr291=) rs1834751406
NM_000093.5(COL5A1):c.921C>A (p.Pro307=)
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.925-11T>C
NM_000093.5(COL5A1):c.925-12C>T
NM_000093.5(COL5A1):c.927G>A (p.Glu309=)
NM_000093.5(COL5A1):c.935_936delinsTC (p.Pro312Leu)
NM_000093.5(COL5A1):c.957C>T (p.Pro319=) rs2132639092
NM_000093.5(COL5A1):c.993G>A (p.Glu331=) rs1834830929

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