Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189045805C>ACA349862466COL5A2c.3304G>T (p.Asp1102Tyr)
c.2143G>T (p.Asp715Tyr)
c.3166G>T (p.Asp1056Tyr)
2g.189045805C>GCA349862468COL5A2c.3304G>C (p.Asp1102His)
c.2143G>C (p.Asp715His)
c.3166G>C (p.Asp1056His)
2g.189045805C>TCA349862467COL5A2c.3304G>A (p.Asp1102Asn)
c.2143G>A (p.Asp715Asn)
c.3166G>A (p.Asp1056Asn)
2g.189045806T>ACA430321139COL5A2c.3303A>T (p.Gly1101=)
c.2142A>T (p.Gly714=)
c.3165A>T (p.Gly1055=)
2g.189045806T>CCA430321140COL5A2c.3303A>G (p.Gly1101=)
c.2142A>G (p.Gly714=)
c.3165A>G (p.Gly1055=)
2g.189045806T>GCA430321141COL5A2c.3303A>C (p.Gly1101=)
c.2142A>C (p.Gly714=)
c.3165A>C (p.Gly1055=)
2g.189045807C>ACA349862469COL5A2c.3302G>T (p.Gly1101Val)
c.2141G>T (p.Gly714Val)
c.3164G>T (p.Gly1055Val)
2g.189045807C>GCA349862470COL5A2c.3302G>C (p.Gly1101Ala)
c.2141G>C (p.Gly714Ala)
c.3164G>C (p.Gly1055Ala)
2g.189045807C>TCA349862471COL5A2c.3302G>A (p.Gly1101Glu)
c.2141G>A (p.Gly714Glu)
c.3164G>A (p.Gly1055Glu)
2g.189045808C>ACA349862472COL5A2c.3301G>T (p.Gly1101Ter)
c.2140G>T (p.Gly714Ter)
c.3163G>T (p.Gly1055Ter)
2g.189045808C>GCA349862473COL5A2c.3301G>C (p.Gly1101Arg)
c.2140G>C (p.Gly714Arg)
c.3163G>C (p.Gly1055Arg)
2g.189045808C>TCA349862474COL5A2c.3301G>A (p.Gly1101Arg)
c.2140G>A (p.Gly714Arg)
c.3163G>A (p.Gly1055Arg)
2g.189045809T>ACA349862475COL5A2c.3300A>T (p.Arg1100Ser)
c.2139A>T (p.Arg713Ser)
c.3162A>T (p.Arg1054Ser)
2g.189045809T>CCA2022058COL5A2c.3300A>G (p.Arg1100=)
c.2139A>G (p.Arg713=)
c.3162A>G (p.Arg1054=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189045809T>GCA349862476COL5A2c.3300A>C (p.Arg1100Ser)
c.2139A>C (p.Arg713Ser)
c.3162A>C (p.Arg1054Ser)
2g.189045809T=CA1315418737COL5A2c.3300A= (p.Arg1100=)
c.2139A= (p.Arg713=)
c.3162A= (p.Arg1054=)
2g.189045810C>ACA349862477COL5A2c.3299G>T (p.Arg1100Ile)
c.2138G>T (p.Arg713Ile)
c.3161G>T (p.Arg1054Ile)
2g.189045810C=CA1315418740COL5A2c.3299G= (p.Arg1100=)
c.2138G= (p.Arg713=)
c.3161G= (p.Arg1054=)
2g.189045810C>GCA62589988COL5A2c.3299G>C (p.Arg1100Thr)
c.2138G>C (p.Arg713Thr)
c.3161G>C (p.Arg1054Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189045810C>TCA349862478COL5A2c.3299G>A (p.Arg1100Lys)
c.2138G>A (p.Arg713Lys)
c.3161G>A (p.Arg1054Lys)
2g.189045811T>ACA349862479COL5A2c.3298A>T (p.Arg1100Ter)
c.2137A>T (p.Arg713Ter)
c.3160A>T (p.Arg1054Ter)
2g.189045811T>CCA349862480COL5A2c.3298A>G (p.Arg1100Gly)
c.2137A>G (p.Arg713Gly)
c.3160A>G (p.Arg1054Gly)
2g.189045811T>GCA430321144COL5A2c.3298A>C (p.Arg1100=)
c.2137A>C (p.Arg713=)
c.3160A>C (p.Arg1054=)
2g.189045813delCA2577186264COL5A2c.3298del (p.Arg1100GlufsTer10)
c.2137del (p.Arg713GlufsTer10)
c.3160del (p.Arg1054GlufsTer10)
2g.189045812T>ACA349862481COL5A2c.3297A>T (p.Gln1099His)
c.2136A>T (p.Gln712His)
c.3159A>T (p.Gln1053His)
2g.189045812T>CCA430321145COL5A2c.3297A>G (p.Gln1099=)
c.2136A>G (p.Gln712=)
c.3159A>G (p.Gln1053=)
2g.189045812T>GCA349862482COL5A2c.3297A>C (p.Gln1099His)
c.2136A>C (p.Gln712His)
c.3159A>C (p.Gln1053His)
 COSMIC
2g.189045813T>ACA349862483COL5A2c.3296A>T (p.Gln1099Leu)
c.2135A>T (p.Gln712Leu)
c.3158A>T (p.Gln1053Leu)
2g.189045813T>CCA62589994COL5A2c.3296A>G (p.Gln1099Arg)
c.2135A>G (p.Gln712Arg)
c.3158A>G (p.Gln1053Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189045813T>GCA349862484COL5A2c.3296A>C (p.Gln1099Pro)
c.2135A>C (p.Gln712Pro)
c.3158A>C (p.Gln1053Pro)
2g.189045813T=CA1315418743COL5A2c.3296A= (p.Gln1099=)
c.2135A= (p.Gln712=)
c.3158A= (p.Gln1053=)
2g.189045814G>ACA349862485COL5A2c.3295C>T (p.Gln1099Ter)
c.2134C>T (p.Gln712Ter)
c.3157C>T (p.Gln1053Ter)
2g.189045814G>CCA349862486COL5A2c.3295C>G (p.Gln1099Glu)
c.2134C>G (p.Gln712Glu)
c.3157C>G (p.Gln1053Glu)
 ClinVar
2g.189045814G>TCA349862487COL5A2c.3295C>A (p.Gln1099Lys)
c.2134C>A (p.Gln712Lys)
c.3157C>A (p.Gln1053Lys)
 COSMIC
2g.189045815T>ACA430321148COL5A2c.3294A>T (p.Gly1098=)
c.2133A>T (p.Gly711=)
c.3156A>T (p.Gly1052=)
2g.189045815T>CCA430321149COL5A2c.3294A>G (p.Gly1098=)
c.2133A>G (p.Gly711=)
c.3156A>G (p.Gly1052=)
 gnomAD v4
2g.189045815T>GCA430321150COL5A2c.3294A>C (p.Gly1098=)
c.2133A>C (p.Gly711=)
c.3156A>C (p.Gly1052=)
2g.189045816C>ACA349862488COL5A2c.3293G>T (p.Gly1098Val)
c.2132G>T (p.Gly711Val)
c.3155G>T (p.Gly1052Val)
2g.189045816C>GCA349862489COL5A2c.3293G>C (p.Gly1098Ala)
c.2132G>C (p.Gly711Ala)
c.3155G>C (p.Gly1052Ala)
 COSMIC
2g.189045816C>TCA349862490COL5A2c.3293G>A (p.Gly1098Glu)
c.2132G>A (p.Gly711Glu)
c.3155G>A (p.Gly1052Glu)
2g.189045817C>ACA349862491COL5A2c.3292G>T (p.Gly1098Ter)
c.2131G>T (p.Gly711Ter)
c.3154G>T (p.Gly1052Ter)
2g.189045817C>GCA349862492COL5A2c.3292G>C (p.Gly1098Arg)
c.2131G>C (p.Gly711Arg)
c.3154G>C (p.Gly1052Arg)
2g.189045817C>TCA349862493COL5A2c.3292G>A (p.Gly1098Arg)
c.2131G>A (p.Gly711Arg)
c.3154G>A (p.Gly1052Arg)
2g.189045818T>ACA430321151COL5A2c.3291A>T (p.Ala1097=)
c.2130A>T (p.Ala710=)
c.3153A>T (p.Ala1051=)
2g.189045818T>CCA430321152COL5A2c.3291A>G (p.Ala1097=)
c.2130A>G (p.Ala710=)
c.3153A>G (p.Ala1051=)
2g.189045818T>GCA430321153COL5A2c.3291A>C (p.Ala1097=)
c.2130A>C (p.Ala710=)
c.3153A>C (p.Ala1051=)
2g.189045819G>ACA349862496COL5A2c.3290C>T (p.Ala1097Val)
c.2129C>T (p.Ala710Val)
c.3152C>T (p.Ala1051Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189045819G>CCA349862495COL5A2c.3290C>G (p.Ala1097Gly)
c.2129C>G (p.Ala710Gly)
c.3152C>G (p.Ala1051Gly)
2g.189045819G=CA1315418748COL5A2c.3290C= (p.Ala1097=)
c.2129C= (p.Ala710=)
c.3152C= (p.Ala1051=)
2g.189045819G>TCA349862494COL5A2c.3290C>A (p.Ala1097Glu)
c.2129C>A (p.Ala710Glu)
c.3152C>A (p.Ala1051Glu)
2g.189045820C>ACA349862497COL5A2c.3289G>T (p.Ala1097Ser)
c.2128G>T (p.Ala710Ser)
c.3151G>T (p.Ala1051Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.189045820C=CA1315418750COL5A2c.3289G= (p.Ala1097=)
c.2128G= (p.Ala710=)
c.3151G= (p.Ala1051=)
2g.189045820C>GCA349862498COL5A2c.3289G>C (p.Ala1097Pro)
c.2128G>C (p.Ala710Pro)
c.3151G>C (p.Ala1051Pro)
2g.189045820C>TCA349862499COL5A2c.3289G>A (p.Ala1097Thr)
c.2128G>A (p.Ala710Thr)
c.3151G>A (p.Ala1051Thr)
2g.189045821A=CA1315418753COL5A2c.3288T= (p.Asp1096=)
c.2127T= (p.Asp709=)
c.3150T= (p.Asp1050=)
2g.189045821A>CCA349862500COL5A2c.3288T>G (p.Asp1096Glu)
c.2127T>G (p.Asp709Glu)
c.3150T>G (p.Asp1050Glu)
2g.189045821A>GCA62589998COL5A2c.3288T>C (p.Asp1096=)
c.2127T>C (p.Asp709=)
c.3150T>C (p.Asp1050=)
 dbSNP gnomAD v3 gnomAD v4
2g.189045821A>TCA349862501COL5A2c.3288T>A (p.Asp1096Glu)
c.2127T>A (p.Asp709Glu)
c.3150T>A (p.Asp1050Glu)
2g.189045822T>ACA349862502COL5A2c.3287A>T (p.Asp1096Val)
c.2126A>T (p.Asp709Val)
c.3149A>T (p.Asp1050Val)
2g.189045822T>CCA349862503COL5A2c.3287A>G (p.Asp1096Gly)
c.2126A>G (p.Asp709Gly)
c.3149A>G (p.Asp1050Gly)
2g.189045822T>GCA349862504COL5A2c.3287A>C (p.Asp1096Ala)
c.2126A>C (p.Asp709Ala)
c.3149A>C (p.Asp1050Ala)
2g.189045823C>ACA349862505COL5A2c.3286G>T (p.Asp1096Tyr)
c.2125G>T (p.Asp709Tyr)
c.3148G>T (p.Asp1050Tyr)
2g.189045823C=CA1315418757COL5A2c.3286G= (p.Asp1096=)
c.2125G= (p.Asp709=)
c.3148G= (p.Asp1050=)
2g.189045823C>GCA349862506COL5A2c.3286G>C (p.Asp1096His)
c.2125G>C (p.Asp709His)
c.3148G>C (p.Asp1050His)
 dbSNP gnomAD v4
2g.189045823C>TCA349862507COL5A2c.3286G>A (p.Asp1096Asn)
c.2125G>A (p.Asp709Asn)
c.3148G>A (p.Asp1050Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.189045824T>ACA430321157COL5A2c.3285A>T (p.Gly1095=)
c.2124A>T (p.Gly708=)
c.3147A>T (p.Gly1049=)
2g.189045824T>CCA430321158COL5A2c.3285A>G (p.Gly1095=)
c.2124A>G (p.Gly708=)
c.3147A>G (p.Gly1049=)
2g.189045824T>GCA430321160COL5A2c.3285A>C (p.Gly1095=)
c.2124A>C (p.Gly708=)
c.3147A>C (p.Gly1049=)
2g.189045825C>ACA349862508COL5A2c.3284G>T (p.Gly1095Val)
c.2123G>T (p.Gly708Val)
c.3146G>T (p.Gly1049Val)
 dbSNP gnomAD v4 COSMIC
2g.189045825C=CA1315418760COL5A2c.3284G= (p.Gly1095=)
c.2123G= (p.Gly708=)
c.3146G= (p.Gly1049=)
2g.189045825C>GCA349862510COL5A2c.3284G>C (p.Gly1095Ala)
c.2123G>C (p.Gly708Ala)
c.3146G>C (p.Gly1049Ala)
2g.189045825C>TCA349862509COL5A2c.3284G>A (p.Gly1095Glu)
c.2123G>A (p.Gly708Glu)
c.3146G>A (p.Gly1049Glu)
 COSMIC
2g.189045826C>ACA349862511COL5A2c.3283G>T (p.Gly1095Ter)
c.2122G>T (p.Gly708Ter)
c.3145G>T (p.Gly1049Ter)
2g.189045826C=CA1315418764COL5A2c.3283G= (p.Gly1095=)
c.2122G= (p.Gly708=)
c.3145G= (p.Gly1049=)
2g.189045826C>GCA349862513COL5A2c.3283G>C (p.Gly1095Arg)
c.2122G>C (p.Gly708Arg)
c.3145G>C (p.Gly1049Arg)
2g.189045826C>TCA349862512COL5A2c.3283G>A (p.Gly1095Arg)
c.2122G>A (p.Gly708Arg)
c.3145G>A (p.Gly1049Arg)
 ClinVar dbSNP
2g.189045827T>ACA430321161COL5A2c.3282A>T (p.Pro1094=)
c.2121A>T (p.Pro707=)
c.3144A>T (p.Pro1048=)
2g.189045827T>CCA430321162COL5A2c.3282A>G (p.Pro1094=)
c.2121A>G (p.Pro707=)
c.3144A>G (p.Pro1048=)
2g.189045827T>GCA430321163COL5A2c.3282A>C (p.Pro1094=)
c.2121A>C (p.Pro707=)
c.3144A>C (p.Pro1048=)
2g.189045828G>ACA349862514COL5A2c.3281C>T (p.Pro1094Leu)
c.2120C>T (p.Pro707Leu)
c.3143C>T (p.Pro1048Leu)
2g.189045828G>CCA349862516COL5A2c.3281C>G (p.Pro1094Arg)
c.2120C>G (p.Pro707Arg)
c.3143C>G (p.Pro1048Arg)
2g.189045828G=CA1315418768COL5A2c.3281C= (p.Pro1094=)
c.2120C= (p.Pro707=)
c.3143C= (p.Pro1048=)
2g.189045828G>TCA349862515COL5A2c.3281C>A (p.Pro1094Gln)
c.2120C>A (p.Pro707Gln)
c.3143C>A (p.Pro1048Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.189045829G>ACA349862517COL5A2c.3280C>T (p.Pro1094Ser)
c.2119C>T (p.Pro707Ser)
c.3142C>T (p.Pro1048Ser)
2g.189045829G>CCA349862518COL5A2c.3280C>G (p.Pro1094Ala)
c.2119C>G (p.Pro707Ala)
c.3142C>G (p.Pro1048Ala)
2g.189045829G>TCA349862519COL5A2c.3280C>A (p.Pro1094Thr)
c.2119C>A (p.Pro707Thr)
c.3142C>A (p.Pro1048Thr)
 gnomAD v4
2g.189045830A>CCA430321167COL5A2c.3279T>G (p.Ala1093=)
c.2118T>G (p.Ala706=)
c.3141T>G (p.Ala1047=)
2g.189045830A>GCA430321168COL5A2c.3279T>C (p.Ala1093=)
c.2118T>C (p.Ala706=)
c.3141T>C (p.Ala1047=)
2g.189045830A>TCA430321166COL5A2c.3279T>A (p.Ala1093=)
c.2118T>A (p.Ala706=)
c.3141T>A (p.Ala1047=)
2g.189045831G>ACA349862520COL5A2c.3278C>T (p.Ala1093Val)
c.2117C>T (p.Ala706Val)
c.3140C>T (p.Ala1047Val)
2g.189045831G>CCA349862521COL5A2c.3278C>G (p.Ala1093Gly)
c.2117C>G (p.Ala706Gly)
c.3140C>G (p.Ala1047Gly)
2g.189045831G>TCA349862522COL5A2c.3278C>A (p.Ala1093Asp)
c.2117C>A (p.Ala706Asp)
c.3140C>A (p.Ala1047Asp)
 ClinVar
2g.189045832C>ACA349862525COL5A2c.3277G>T (p.Ala1093Ser)
c.2116G>T (p.Ala706Ser)
c.3139G>T (p.Ala1047Ser)
2g.189045832C>GCA349862524COL5A2c.3277G>C (p.Ala1093Pro)
c.2116G>C (p.Ala706Pro)
c.3139G>C (p.Ala1047Pro)
2g.189045832C>TCA349862523COL5A2c.3277G>A (p.Ala1093Thr)
c.2116G>A (p.Ala706Thr)
c.3139G>A (p.Ala1047Thr)
 gnomAD v4
2g.189045833A>CCA430321171COL5A2c.3276T>G (p.Gly1092=)
c.2115T>G (p.Gly705=)
c.3138T>G (p.Gly1046=)
2g.189045833A>GCA430321169COL5A2c.3276T>C (p.Gly1092=)
c.2115T>C (p.Gly705=)
c.3138T>C (p.Gly1046=)
2g.189045833A>TCA430321170COL5A2c.3276T>A (p.Gly1092=)
c.2115T>A (p.Gly705=)
c.3138T>A (p.Gly1046=)
2g.189045834C>ACA349862526COL5A2c.3275G>T (p.Gly1092Val)
c.2114G>T (p.Gly705Val)
c.3137G>T (p.Gly1046Val)
 dbSNP
2g.189045834C=CA1315418772COL5A2c.3275G= (p.Gly1092=)
c.2114G= (p.Gly705=)
c.3137G= (p.Gly1046=)
2g.189045834C>GCA349862527COL5A2c.3275G>C (p.Gly1092Ala)
c.2114G>C (p.Gly705Ala)
c.3137G>C (p.Gly1046Ala)
2g.189045834C>TCA62590007COL5A2c.3275G>A (p.Gly1092Asp)
c.2114G>A (p.Gly705Asp)
c.3137G>A (p.Gly1046Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189045835C>ACA349862528COL5A2c.3274G>T (p.Gly1092Cys)
c.2113G>T (p.Gly705Cys)
c.3136G>T (p.Gly1046Cys)
2g.189045835C>GCA349862529COL5A2c.3274G>C (p.Gly1092Arg)
c.2113G>C (p.Gly705Arg)
c.3136G>C (p.Gly1046Arg)
2g.189045835C>TCA349862530COL5A2c.3274G>A (p.Gly1092Ser)
c.2113G>A (p.Gly705Ser)
c.3136G>A (p.Gly1046Ser)
2g.189045836C>ACA430321173COL5A2c.3273G>T (p.Val1091=)
c.2112G>T (p.Val704=)
c.3135G>T (p.Val1045=)
2g.189045836C>GCA430321175COL5A2c.3273G>C (p.Val1091=)
c.2112G>C (p.Val704=)
c.3135G>C (p.Val1045=)
2g.189045836C>TCA430321174COL5A2c.3273G>A (p.Val1091=)
c.2112G>A (p.Val704=)
c.3135G>A (p.Val1045=)
 gnomAD v4
2g.189045837A>CCA349862531COL5A2c.3272T>G (p.Val1091Gly)
c.2111T>G (p.Val704Gly)
c.3134T>G (p.Val1045Gly)
2g.189045837A>GCA349862533COL5A2c.3272T>C (p.Val1091Ala)
c.2111T>C (p.Val704Ala)
c.3134T>C (p.Val1045Ala)
2g.189045837A>TCA349862532COL5A2c.3272T>A (p.Val1091Glu)
c.2111T>A (p.Val704Glu)
c.3134T>A (p.Val1045Glu)
2g.189045838C>ACA349862534COL5A2c.3271G>T (p.Val1091Leu)
c.2110G>T (p.Val704Leu)
c.3133G>T (p.Val1045Leu)
2g.189045838C>GCA349862535COL5A2c.3271G>C (p.Val1091Leu)
c.2110G>C (p.Val704Leu)
c.3133G>C (p.Val1045Leu)
2g.189045838C>TCA349862536COL5A2c.3271G>A (p.Val1091Met)
c.2110G>A (p.Val704Met)
c.3133G>A (p.Val1045Met)
2g.189045839A=CA1315418775COL5A2c.3270T= (p.Pro1090=)
c.2109T= (p.Pro703=)
c.3132T= (p.Pro1044=)
2g.189045839A>CCA430321177COL5A2c.3270T>G (p.Pro1090=)
c.2109T>G (p.Pro703=)
c.3132T>G (p.Pro1044=)
2g.189045839A>GCA430321178COL5A2c.3270T>C (p.Pro1090=)
c.2109T>C (p.Pro703=)
c.3132T>C (p.Pro1044=)
 dbSNP gnomAD v3 gnomAD v4
2g.189045839A>TCA430321179COL5A2c.3270T>A (p.Pro1090=)
c.2109T>A (p.Pro703=)
c.3132T>A (p.Pro1044=)
2g.189045840G>ACA349862537COL5A2c.3269C>T (p.Pro1090Leu)
c.2108C>T (p.Pro703Leu)
c.3131C>T (p.Pro1044Leu)
 gnomAD v4
2g.189045840G>CCA349862538COL5A2c.3269C>G (p.Pro1090Arg)
c.2108C>G (p.Pro703Arg)
c.3131C>G (p.Pro1044Arg)
2g.189045840G=CA1315418778COL5A2c.3269C= (p.Pro1090=)
c.2108C= (p.Pro703=)
c.3131C= (p.Pro1044=)
2g.189045840G>TCA2022059COL5A2c.3269C>A (p.Pro1090His)
c.2108C>A (p.Pro703His)
c.3131C>A (p.Pro1044His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189045841G>ACA324267COL5A2c.3268C>T (p.Pro1090Ser)
c.2107C>T (p.Pro703Ser)
c.3130C>T (p.Pro1044Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189045841G>CCA349862541COL5A2c.3268C>G (p.Pro1090Ala)
c.2107C>G (p.Pro703Ala)
c.3130C>G (p.Pro1044Ala)
2g.189045841G=CA1315418784COL5A2c.3268C= (p.Pro1090=)
c.2107C= (p.Pro703=)
c.3130C= (p.Pro1044=)
2g.189045841G>TCA349862543COL5A2c.3268C>A (p.Pro1090Thr)
c.2107C>A (p.Pro703Thr)
c.3130C>A (p.Pro1044Thr)
 ClinVar gnomAD v4
2g.189045842G>ACA430321180COL5A2c.3267C>T (p.Gly1089=)
c.2106C>T (p.Gly702=)
c.3129C>T (p.Gly1043=)
 dbSNP gnomAD v2 gnomAD v4
2g.189045842G>CCA430321181COL5A2c.3267C>G (p.Gly1089=)
c.2106C>G (p.Gly702=)
c.3129C>G (p.Gly1043=)
2g.189045842G=CA1315418786COL5A2c.3267C= (p.Gly1089=)
c.2106C= (p.Gly702=)
c.3129C= (p.Gly1043=)
2g.189045842G>TCA430321182COL5A2c.3267C>A (p.Gly1089=)
c.2106C>A (p.Gly702=)
c.3129C>A (p.Gly1043=)
2g.189045843C>ACA349862544COL5A2c.3266G>T (p.Gly1089Val)
c.2105G>T (p.Gly702Val)
c.3128G>T (p.Gly1043Val)
2g.189045843C>GCA349862546COL5A2c.3266G>C (p.Gly1089Ala)
c.2105G>C (p.Gly702Ala)
c.3128G>C (p.Gly1043Ala)
2g.189045843C>TCA349862547COL5A2c.3266G>A (p.Gly1089Asp)
c.2105G>A (p.Gly702Asp)
c.3128G>A (p.Gly1043Asp)
2g.189045844C>ACA349862550COL5A2c.3265G>T (p.Gly1089Cys)
c.2104G>T (p.Gly702Cys)
c.3127G>T (p.Gly1043Cys)
2g.189045844C>GCA349862553COL5A2c.3265G>C (p.Gly1089Arg)
c.2104G>C (p.Gly702Arg)
c.3127G>C (p.Gly1043Arg)
2g.189045844C>TCA349862551COL5A2c.3265G>A (p.Gly1089Ser)
c.2104G>A (p.Gly702Ser)
c.3127G>A (p.Gly1043Ser)
2g.189045845A>CCA430321184COL5A2c.3264T>G (p.Pro1088=)
c.2103T>G (p.Pro701=)
c.3126T>G (p.Pro1042=)
2g.189045845A>GCA430321185COL5A2c.3264T>C (p.Pro1088=)
c.2103T>C (p.Pro701=)
c.3126T>C (p.Pro1042=)
2g.189045845A>TCA430321187COL5A2c.3264T>A (p.Pro1088=)
c.2103T>A (p.Pro701=)
c.3126T>A (p.Pro1042=)
2g.189045846G>ACA349862555COL5A2c.3263C>T (p.Pro1088Leu)
c.2102C>T (p.Pro701Leu)
c.3125C>T (p.Pro1042Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.189045846G>CCA349862557COL5A2c.3263C>G (p.Pro1088Arg)
c.2102C>G (p.Pro701Arg)
c.3125C>G (p.Pro1042Arg)
2g.189045846G=CA1315418792COL5A2c.3263C= (p.Pro1088=)
c.2102C= (p.Pro701=)
c.3125C= (p.Pro1042=)
2g.189045846G>TCA349862558COL5A2c.3263C>A (p.Pro1088His)
c.2102C>A (p.Pro701His)
c.3125C>A (p.Pro1042His)
2g.189045847G>ACA349862561COL5A2c.3262C>T (p.Pro1088Ser)
c.2101C>T (p.Pro701Ser)
c.3124C>T (p.Pro1042Ser)
 gnomAD v4
2g.189045847G>CCA349862562COL5A2c.3262C>G (p.Pro1088Ala)
c.2101C>G (p.Pro701Ala)
c.3124C>G (p.Pro1042Ala)
2g.189045847G>TCA349862563COL5A2c.3262C>A (p.Pro1088Thr)
c.2101C>A (p.Pro701Thr)
c.3124C>A (p.Pro1042Thr)
2g.189045848A>CCA430321190COL5A2c.3261T>G (p.Thr1087=)
c.2100T>G (p.Thr700=)
c.3123T>G (p.Thr1041=)
2g.189045848A>GCA430321192COL5A2c.3261T>C (p.Thr1087=)
c.2100T>C (p.Thr700=)
c.3123T>C (p.Thr1041=)
2g.189045848A>TCA430321193COL5A2c.3261T>A (p.Thr1087=)
c.2100T>A (p.Thr700=)
c.3123T>A (p.Thr1041=)
2g.189045849G>ACA349862566COL5A2c.3260C>T (p.Thr1087Ile)
c.2099C>T (p.Thr700Ile)
c.3122C>T (p.Thr1041Ile)
2g.189045849G>CCA349862567COL5A2c.3260C>G (p.Thr1087Ser)
c.2099C>G (p.Thr700Ser)
c.3122C>G (p.Thr1041Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189045849G=CA1315418796COL5A2c.3260C= (p.Thr1087=)
c.2099C= (p.Thr700=)
c.3122C= (p.Thr1041=)
2g.189045849G>TCA349862569COL5A2c.3260C>A (p.Thr1087Asn)
c.2099C>A (p.Thr700Asn)
c.3122C>A (p.Thr1041Asn)
2g.189045850T>ACA349862571COL5A2c.3259A>T (p.Thr1087Ser)
c.2098A>T (p.Thr700Ser)
c.3121A>T (p.Thr1041Ser)
2g.189045850T>CCA349862573COL5A2c.3259A>G (p.Thr1087Ala)
c.2098A>G (p.Thr700Ala)
c.3121A>G (p.Thr1041Ala)
2g.189045850T>GCA349862574COL5A2c.3259A>C (p.Thr1087Pro)
c.2098A>C (p.Thr700Pro)
c.3121A>C (p.Thr1041Pro)
 dbSNP
2g.189045850T=CA1315418799COL5A2c.3259A= (p.Thr1087=)
c.2098A= (p.Thr700=)
c.3121A= (p.Thr1041=)
2g.189045851T>ACA430321200COL5A2c.3258A>T (p.Gly1086=)
c.2097A>T (p.Gly699=)
c.3120A>T (p.Gly1040=)
2g.189045851T>CCA430321199COL5A2c.3258A>G (p.Gly1086=)
c.2097A>G (p.Gly699=)
c.3120A>G (p.Gly1040=)
2g.189045851T>GCA430321198COL5A2c.3258A>C (p.Gly1086=)
c.2097A>C (p.Gly699=)
c.3120A>C (p.Gly1040=)
2g.189045852C>ACA349862580COL5A2c.3257G>T (p.Gly1086Val)
c.2096G>T (p.Gly699Val)
c.3119G>T (p.Gly1040Val)
2g.189045852C>GCA349862577COL5A2c.3257G>C (p.Gly1086Ala)
c.2096G>C (p.Gly699Ala)
c.3119G>C (p.Gly1040Ala)
2g.189045852C>TCA349862576COL5A2c.3257G>A (p.Gly1086Glu)
c.2096G>A (p.Gly699Glu)
c.3119G>A (p.Gly1040Glu)
 COSMIC
2g.189045853C>ACA349862581COL5A2c.3256G>T (p.Gly1086Ter)
c.2095G>T (p.Gly699Ter)
c.3118G>T (p.Gly1040Ter)
2g.189045853C>GCA349862583COL5A2c.3256G>C (p.Gly1086Arg)
c.2095G>C (p.Gly699Arg)
c.3118G>C (p.Gly1040Arg)
2g.189045853C>TCA349862585COL5A2c.3256G>A (p.Gly1086Arg)
c.2095G>A (p.Gly699Arg)
c.3118G>A (p.Gly1040Arg)
2g.189045854A>CCA430321202COL5A2c.3255T>G (p.Pro1085=)
c.2094T>G (p.Pro698=)
c.3117T>G (p.Pro1039=)
2g.189045854A>GCA430321203COL5A2c.3255T>C (p.Pro1085=)
c.2094T>C (p.Pro698=)
c.3117T>C (p.Pro1039=)
2g.189045854A>TCA430321204COL5A2c.3255T>A (p.Pro1085=)
c.2094T>A (p.Pro698=)
c.3117T>A (p.Pro1039=)
2g.189045855G>ACA349862587COL5A2c.3254C>T (p.Pro1085Leu)
c.2093C>T (p.Pro698Leu)
c.3116C>T (p.Pro1039Leu)
2g.189045855G>CCA349862588COL5A2c.3254C>G (p.Pro1085Arg)
c.2093C>G (p.Pro698Arg)
c.3116C>G (p.Pro1039Arg)
2g.189045855G>TCA349862590COL5A2c.3254C>A (p.Pro1085His)
c.2093C>A (p.Pro698His)
c.3116C>A (p.Pro1039His)
2g.189045855_189045856insTCA645527004COL5A2c.3253_3254insA (p.Pro1085HisfsTer?)
c.2092_2093insA (p.Pro698HisfsTer?)
c.3115_3116insA (p.Pro1039HisfsTer?)
 COSMIC
2g.189045856G>ACA349862593COL5A2c.3253C>T (p.Pro1085Ser)
c.2092C>T (p.Pro698Ser)
c.3115C>T (p.Pro1039Ser)
 gnomAD v4
2g.189045856G>CCA349862594COL5A2c.3253C>G (p.Pro1085Ala)
c.2092C>G (p.Pro698Ala)
c.3115C>G (p.Pro1039Ala)
2g.189045856G>TCA349862596COL5A2c.3253C>A (p.Pro1085Thr)
c.2092C>A (p.Pro698Thr)
c.3115C>A (p.Pro1039Thr)
2g.189045857G>ACA430321209COL5A2c.3252C>T (p.Ala1084=)
c.2091C>T (p.Ala697=)
c.3114C>T (p.Ala1038=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189045857G>CCA430321206COL5A2c.3252C>G (p.Ala1084=)
c.2091C>G (p.Ala697=)
c.3114C>G (p.Ala1038=)
2g.189045857G=CA1315418805COL5A2c.3252C= (p.Ala1084=)
c.2091C= (p.Ala697=)
c.3114C= (p.Ala1038=)
2g.189045857G>TCA430321208COL5A2c.3252C>A (p.Ala1084=)
c.2091C>A (p.Ala697=)
c.3114C>A (p.Ala1038=)
2g.189045858G>ACA349862598COL5A2c.3251C>T (p.Ala1084Val)
c.2090C>T (p.Ala697Val)
c.3113C>T (p.Ala1038Val)
 dbSNP gnomAD v2 gnomAD v4
2g.189045858G>CCA349862600COL5A2c.3251C>G (p.Ala1084Gly)
c.2090C>G (p.Ala697Gly)
c.3113C>G (p.Ala1038Gly)
2g.189045858G=CA1315418808COL5A2c.3251C= (p.Ala1084=)
c.2090C= (p.Ala697=)
c.3113C= (p.Ala1038=)
2g.189045858G>TCA349862602COL5A2c.3251C>A (p.Ala1084Asp)
c.2090C>A (p.Ala697Asp)
c.3113C>A (p.Ala1038Asp)
2g.189045859C>ACA349862605COL5A2c.3250G>T (p.Ala1084Ser)
c.2089G>T (p.Ala697Ser)
c.3112G>T (p.Ala1038Ser)
 gnomAD v4
2g.189045859C=CA1315418809COL5A2c.3250G= (p.Ala1084=)
c.2089G= (p.Ala697=)
c.3112G= (p.Ala1038=)
2g.189045859C>GCA349862608COL5A2c.3250G>C (p.Ala1084Pro)
c.2089G>C (p.Ala697Pro)
c.3112G>C (p.Ala1038Pro)
2g.189045859C>TCA349862606COL5A2c.3250G>A (p.Ala1084Thr)
c.2089G>A (p.Ala697Thr)
c.3112G>A (p.Ala1038Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189045860A=CA1315418811COL5A2c.3249T= (p.Gly1083=)
c.2088T= (p.Gly696=)
c.3111T= (p.Gly1037=)
2g.189045860A>CCA62590026COL5A2c.3249T>G (p.Gly1083=)
c.2088T>G (p.Gly696=)
c.3111T>G (p.Gly1037=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189045860A>GCA430321213COL5A2c.3249T>C (p.Gly1083=)
c.2088T>C (p.Gly696=)
c.3111T>C (p.Gly1037=)
 COSMIC
2g.189045860A>TCA430321214COL5A2c.3249T>A (p.Gly1083=)
c.2088T>A (p.Gly696=)
c.3111T>A (p.Gly1037=)
2g.189045861C>ACA349862610COL5A2c.3248G>T (p.Gly1083Val)
c.2087G>T (p.Gly696Val)
c.3110G>T (p.Gly1037Val)
 gnomAD v4 COSMIC
2g.189045861C=CA1315418815COL5A2c.3248G= (p.Gly1083=)
c.2087G= (p.Gly696=)
c.3110G= (p.Gly1037=)
2g.189045861C>GCA349862612COL5A2c.3248G>C (p.Gly1083Ala)
c.2087G>C (p.Gly696Ala)
c.3110G>C (p.Gly1037Ala)
2g.189045861C>TCA349862611COL5A2c.3248G>A (p.Gly1083Asp)
c.2087G>A (p.Gly696Asp)
c.3110G>A (p.Gly1037Asp)
 ClinVar dbSNP gnomAD v4
2g.189045862C>ACA349862613COL5A2c.3247G>T (p.Gly1083Cys)
c.2086G>T (p.Gly696Cys)
c.3109G>T (p.Gly1037Cys)
2g.189045862C>GCA349862615COL5A2c.3247G>C (p.Gly1083Arg)
c.2086G>C (p.Gly696Arg)
c.3109G>C (p.Gly1037Arg)
2g.189045862C>TCA349862617COL5A2c.3247G>A (p.Gly1083Ser)
c.2086G>A (p.Gly696Ser)
c.3109G>A (p.Gly1037Ser)
2g.189045863C>ACA349862619COL5A2c.3246G>T (p.Gln1082His)
c.2085G>T (p.Gln695His)
c.3108G>T (p.Gln1036His)
 gnomAD v4
2g.189045863C=CA1315418821COL5A2c.3246G= (p.Gln1082=)
c.2085G= (p.Gln695=)
c.3108G= (p.Gln1036=)
2g.189045863C>GCA62590030COL5A2c.3246G>C (p.Gln1082His)
c.2085G>C (p.Gln695His)
c.3108G>C (p.Gln1036His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189045863C>TCA430321216COL5A2c.3246G>A (p.Gln1082=)
c.2085G>A (p.Gln695=)
c.3108G>A (p.Gln1036=)
2g.189045864T>ACA349862623COL5A2c.3245A>T (p.Gln1082Leu)
c.2084A>T (p.Gln695Leu)
c.3107A>T (p.Gln1036Leu)
2g.189045864T>CCA349862624COL5A2c.3245A>G (p.Gln1082Arg)
c.2084A>G (p.Gln695Arg)
c.3107A>G (p.Gln1036Arg)
2g.189045864T>GCA349862626COL5A2c.3245A>C (p.Gln1082Pro)
c.2084A>C (p.Gln695Pro)
c.3107A>C (p.Gln1036Pro)
2g.189045865G>ACA349862627COL5A2c.3244C>T (p.Gln1082Ter)
c.2083C>T (p.Gln695Ter)
c.3106C>T (p.Gln1036Ter)
2g.189045865G>CCA349862629COL5A2c.3244C>G (p.Gln1082Glu)
c.2083C>G (p.Gln695Glu)
c.3106C>G (p.Gln1036Glu)
2g.189045865G>TCA349862632COL5A2c.3244C>A (p.Gln1082Lys)
c.2083C>A (p.Gln695Lys)
c.3106C>A (p.Gln1036Lys)
2g.189045866A>CCA430321222COL5A2c.3243T>G (p.Ser1081=)
c.2082T>G (p.Ser694=)
c.3105T>G (p.Ser1035=)
2g.189045866A>GCA430321224COL5A2c.3243T>C (p.Ser1081=)
c.2082T>C (p.Ser694=)
c.3105T>C (p.Ser1035=)
2g.189045866A>TCA430321225COL5A2c.3243T>A (p.Ser1081=)
c.2082T>A (p.Ser694=)
c.3105T>A (p.Ser1035=)
2g.189045867G>ACA349862635COL5A2c.3242C>T (p.Ser1081Phe)
c.2081C>T (p.Ser694Phe)
c.3104C>T (p.Ser1035Phe)
 gnomAD v4
2g.189045867G>CCA349862640COL5A2c.3242C>G (p.Ser1081Cys)
c.2081C>G (p.Ser694Cys)
c.3104C>G (p.Ser1035Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.189045867G=CA1315418826COL5A2c.3242C= (p.Ser1081=)
c.2081C= (p.Ser694=)
c.3104C= (p.Ser1035=)
2g.189045867G>TCA349862637COL5A2c.3242C>A (p.Ser1081Tyr)
c.2081C>A (p.Ser694Tyr)
c.3104C>A (p.Ser1035Tyr)
2g.189045868A=CA1315418830COL5A2c.3241T= (p.Ser1081=)
c.2080T= (p.Ser694=)
c.3103T= (p.Ser1035=)
2g.189045868A>CCA349862642COL5A2c.3241T>G (p.Ser1081Ala)
c.2080T>G (p.Ser694Ala)
c.3103T>G (p.Ser1035Ala)
2g.189045868A>GCA349862646COL5A2c.3241T>C (p.Ser1081Pro)
c.2080T>C (p.Ser694Pro)
c.3103T>C (p.Ser1035Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.189045868A>TCA349862649COL5A2c.3241T>A (p.Ser1081Thr)
c.2080T>A (p.Ser694Thr)
c.3103T>A (p.Ser1035Thr)
2g.189045869G>ACA430321226COL5A2c.3240C>T (p.Gly1080=)
c.2079C>T (p.Gly693=)
c.3102C>T (p.Gly1034=)
 dbSNP gnomAD v3 gnomAD v4
2g.189045869G>CCA430321227COL5A2c.3240C>G (p.Gly1080=)
c.2079C>G (p.Gly693=)
c.3102C>G (p.Gly1034=)
2g.189045869G=CA1315418836COL5A2c.3240C= (p.Gly1080=)
c.2079C= (p.Gly693=)
c.3102C= (p.Gly1034=)
2g.189045869G>TCA430321229COL5A2c.3240C>A (p.Gly1080=)
c.2079C>A (p.Gly693=)
c.3102C>A (p.Gly1034=)
2g.189045870C>ACA349862653COL5A2c.3239G>T (p.Gly1080Val)
c.2078G>T (p.Gly693Val)
c.3101G>T (p.Gly1034Val)
2g.189045870C=CA1315418841COL5A2c.3239G= (p.Gly1080=)
c.2078G= (p.Gly693=)
c.3101G= (p.Gly1034=)
2g.189045870C>GCA349862656COL5A2c.3239G>C (p.Gly1080Ala)
c.2078G>C (p.Gly693Ala)
c.3101G>C (p.Gly1034Ala)
2g.189045870C>TCA349862659COL5A2c.3239G>A (p.Gly1080Asp)
c.2078G>A (p.Gly693Asp)
c.3101G>A (p.Gly1034Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.189045871C>ACA349862663COL5A2c.3238G>T (p.Gly1080Cys)
c.2077G>T (p.Gly693Cys)
c.3100G>T (p.Gly1034Cys)
2g.189045871C>GCA349862666COL5A2c.3238G>C (p.Gly1080Arg)
c.2077G>C (p.Gly693Arg)
c.3100G>C (p.Gly1034Arg)
2g.189045871C>TCA349862669COL5A2c.3238G>A (p.Gly1080Ser)
c.2077G>A (p.Gly693Ser)
c.3100G>A (p.Gly1034Ser)
2g.189045872T>ACA430321233COL5A2c.3237A>T (p.Pro1079=)
c.2076A>T (p.Pro692=)
c.3099A>T (p.Pro1033=)
2g.189045872T>CCA430321234COL5A2c.3237A>G (p.Pro1079=)
c.2076A>G (p.Pro692=)
c.3099A>G (p.Pro1033=)
2g.189045872T>GCA430321235COL5A2c.3237A>C (p.Pro1079=)
c.2076A>C (p.Pro692=)
c.3099A>C (p.Pro1033=)
 gnomAD v4
2g.189045873G>ACA349862676COL5A2c.3236C>T (p.Pro1079Leu)
c.2075C>T (p.Pro692Leu)
c.3098C>T (p.Pro1033Leu)
2g.189045873G>CCA349862680COL5A2c.3236C>G (p.Pro1079Arg)
c.2075C>G (p.Pro692Arg)
c.3098C>G (p.Pro1033Arg)
2g.189045873G>TCA349862673COL5A2c.3236C>A (p.Pro1079Gln)
c.2075C>A (p.Pro692Gln)
c.3098C>A (p.Pro1033Gln)
 gnomAD v4
2g.189045874G>ACA349862682COL5A2c.3235C>T (p.Pro1079Ser)
c.2074C>T (p.Pro692Ser)
c.3097C>T (p.Pro1033Ser)
2g.189045874G>CCA349862684COL5A2c.3235C>G (p.Pro1079Ala)
c.2074C>G (p.Pro692Ala)
c.3097C>G (p.Pro1033Ala)
2g.189045874G>TCA349862687COL5A2c.3235C>A (p.Pro1079Thr)
c.2074C>A (p.Pro692Thr)
c.3097C>A (p.Pro1033Thr)
2g.189045875C>ACA430321240COL5A2c.3234G>T (p.Leu1078=)
c.2073G>T (p.Leu691=)
c.3096G>T (p.Leu1032=)
2g.189045875C>GCA430321241COL5A2c.3234G>C (p.Leu1078=)
c.2073G>C (p.Leu691=)
c.3096G>C (p.Leu1032=)
2g.189045875C>TCA430321242COL5A2c.3234G>A (p.Leu1078=)
c.2073G>A (p.Leu691=)
c.3096G>A (p.Leu1032=)
 gnomAD v4
2g.189045876A>CCA349862691COL5A2c.3233T>G (p.Leu1078Arg)
c.2072T>G (p.Leu691Arg)
c.3095T>G (p.Leu1032Arg)
2g.189045876A>GCA349862693COL5A2c.3233T>C (p.Leu1078Pro)
c.2072T>C (p.Leu691Pro)
c.3095T>C (p.Leu1032Pro)
2g.189045876A>TCA349862696COL5A2c.3233T>A (p.Leu1078Gln)
c.2072T>A (p.Leu691Gln)
c.3095T>A (p.Leu1032Gln)
2g.189045877G>ACA430321243COL5A2c.3232C>T (p.Leu1078=)
c.2071C>T (p.Leu691=)
c.3094C>T (p.Leu1032=)
 dbSNP
2g.189045877G>CCA349862699COL5A2c.3232C>G (p.Leu1078Val)
c.2071C>G (p.Leu691Val)
c.3094C>G (p.Leu1032Val)
 ClinVar gnomAD v4
2g.189045877G=CA1315418844COL5A2c.3232C= (p.Leu1078=)
c.2071C= (p.Leu691=)
c.3094C= (p.Leu1032=)
2g.189045877G>TCA349862700COL5A2c.3232C>A (p.Leu1078Met)
c.2071C>A (p.Leu691Met)
c.3094C>A (p.Leu1032Met)
2g.189045878A>CCA430321245COL5A2c.3231T>G (p.Gly1077=)
c.2070T>G (p.Gly690=)
c.3093T>G (p.Gly1031=)
2g.189045878A>GCA430321246COL5A2c.3231T>C (p.Gly1077=)
c.2070T>C (p.Gly690=)
c.3093T>C (p.Gly1031=)
2g.189045878A>TCA430321247COL5A2c.3231T>A (p.Gly1077=)
c.2070T>A (p.Gly690=)
c.3093T>A (p.Gly1031=)
2g.189045879C>ACA349862701COL5A2c.3230G>T (p.Gly1077Val)
c.2069G>T (p.Gly690Val)
c.3092G>T (p.Gly1031Val)
2g.189045879C=CA1315418846COL5A2c.3230G= (p.Gly1077=)
c.2069G= (p.Gly690=)
c.3092G= (p.Gly1031=)
2g.189045879C>GCA349862702COL5A2c.3230G>C (p.Gly1077Ala)
c.2069G>C (p.Gly690Ala)
c.3092G>C (p.Gly1031Ala)
2g.189045879C>TCA349862703COL5A2c.3230G>A (p.Gly1077Asp)
c.2069G>A (p.Gly690Asp)
c.3092G>A (p.Gly1031Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189045880delCA2586963963COL5A2c.3230del (p.Gly1077ValfsTer?)
c.2069del (p.Gly690ValfsTer?)
c.3092del (p.Gly1031ValfsTer?)
 ClinVar
2g.189045880C>ACA349862705COL5A2c.3229G>T (p.Gly1077Cys)
c.2068G>T (p.Gly690Cys)
c.3091G>T (p.Gly1031Cys)
2g.189045880C=CA1315418848COL5A2c.3229G= (p.Gly1077=)
c.2068G= (p.Gly690=)
c.3091G= (p.Gly1031=)
2g.189045880C>GCA349862707COL5A2c.3229G>C (p.Gly1077Arg)
c.2068G>C (p.Gly690Arg)
c.3091G>C (p.Gly1031Arg)
 dbSNP
2g.189045880C>TCA2022060COL5A2c.3229G>A (p.Gly1077Ser)
c.2068G>A (p.Gly690Ser)
c.3091G>A (p.Gly1031Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189045881T>ACA430321249COL5A2c.3228A>T (p.Ala1076=)
c.2067A>T (p.Ala689=)
c.3090A>T (p.Ala1030=)
 dbSNP gnomAD v4
2g.189045881T>CCA430321250COL5A2c.3228A>G (p.Ala1076=)
c.2067A>G (p.Ala689=)
c.3090A>G (p.Ala1030=)
2g.189045881T>GCA430321251COL5A2c.3228A>C (p.Ala1076=)
c.2067A>C (p.Ala689=)
c.3090A>C (p.Ala1030=)
2g.189045881T=CA1315418852COL5A2c.3228A= (p.Ala1076=)
c.2067A= (p.Ala689=)
c.3090A= (p.Ala1030=)
2g.189045882G>ACA2022061COL5A2c.3227C>T (p.Ala1076Val)
c.2066C>T (p.Ala689Val)
c.3089C>T (p.Ala1030Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189045882G>CCA349862711COL5A2c.3227C>G (p.Ala1076Gly)
c.2066C>G (p.Ala689Gly)
c.3089C>G (p.Ala1030Gly)
2g.189045882G=CA1315418856COL5A2c.3227C= (p.Ala1076=)
c.2066C= (p.Ala689=)
c.3089C= (p.Ala1030=)
2g.189045882G>TCA349862714COL5A2c.3227C>A (p.Ala1076Glu)
c.2066C>A (p.Ala689Glu)
c.3089C>A (p.Ala1030Glu)
 gnomAD v4
2g.189045883C>ACA349862717COL5A2c.3226G>T (p.Ala1076Ser)
c.2065G>T (p.Ala689Ser)
c.3088G>T (p.Ala1030Ser)
2g.189045883C>GCA349862721COL5A2c.3226G>C (p.Ala1076Pro)
c.2065G>C (p.Ala689Pro)
c.3088G>C (p.Ala1030Pro)
 ClinVar dbSNP
2g.189045883C>TCA349862723COL5A2c.3226G>A (p.Ala1076Thr)
c.2065G>A (p.Ala689Thr)
c.3088G>A (p.Ala1030Thr)
2g.189045884A>CCA430321255COL5A2c.3225T>G (p.Pro1075=)
c.2064T>G (p.Pro688=)
c.3087T>G (p.Pro1029=)
2g.189045884A>GCA430321257COL5A2c.3225T>C (p.Pro1075=)
c.2064T>C (p.Pro688=)
c.3087T>C (p.Pro1029=)
2g.189045884A>TCA430321256COL5A2c.3225T>A (p.Pro1075=)
c.2064T>A (p.Pro688=)
c.3087T>A (p.Pro1029=)
2g.189045885G>ACA349862727COL5A2c.3224C>T (p.Pro1075Leu)
c.2063C>T (p.Pro688Leu)
c.3086C>T (p.Pro1029Leu)
2g.189045885G>CCA349862732COL5A2c.3224C>G (p.Pro1075Arg)
c.2063C>G (p.Pro688Arg)
c.3086C>G (p.Pro1029Arg)
 gnomAD v4
2g.189045885G>TCA349862729COL5A2c.3224C>A (p.Pro1075His)
c.2063C>A (p.Pro688His)
c.3086C>A (p.Pro1029His)
2g.189045886G>ACA62590031COL5A2c.3223C>T (p.Pro1075Ser)
c.2062C>T (p.Pro688Ser)
c.3085C>T (p.Pro1029Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.189045886G>CCA349862736COL5A2c.3223C>G (p.Pro1075Ala)
c.2062C>G (p.Pro688Ala)
c.3085C>G (p.Pro1029Ala)
2g.189045886G=CA1315418863COL5A2c.3223C= (p.Pro1075=)
c.2062C= (p.Pro688=)
c.3085C= (p.Pro1029=)
2g.189045886G>TCA349862738COL5A2c.3223C>A (p.Pro1075Thr)
c.2062C>A (p.Pro688Thr)
c.3085C>A (p.Pro1029Thr)
2g.189045887C>ACA2022063COL5A2c.3222G>T (p.Gly1074=)
c.2061G>T (p.Gly687=)
c.3084G>T (p.Gly1028=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189045887C=CA1315418874COL5A2c.3222G= (p.Gly1074=)
c.2061G= (p.Gly687=)
c.3084G= (p.Gly1028=)
2g.189045887C>GCA430321258COL5A2c.3222G>C (p.Gly1074=)
c.2061G>C (p.Gly687=)
c.3084G>C (p.Gly1028=)
2g.189045887C>TCA2022062COL5A2c.3222G>A (p.Gly1074=)
c.2061G>A (p.Gly687=)
c.3084G>A (p.Gly1028=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189045888C>ACA349862750COL5A2c.3221G>T (p.Gly1074Val)
c.2060G>T (p.Gly687Val)
c.3083G>T (p.Gly1028Val)
2g.189045888C>GCA349862754COL5A2c.3221G>C (p.Gly1074Ala)
c.2060G>C (p.Gly687Ala)
c.3083G>C (p.Gly1028Ala)
2g.189045888C>TCA349862748COL5A2c.3221G>A (p.Gly1074Glu)
c.2060G>A (p.Gly687Glu)
c.3083G>A (p.Gly1028Glu)
2g.189045889C>ACA349862765COL5A2c.3220G>T (p.Gly1074Trp)
c.2059G>T (p.Gly687Trp)
c.3082G>T (p.Gly1028Trp)
2g.189045889C>GCA349862758COL5A2c.3220G>C (p.Gly1074Arg)
c.2059G>C (p.Gly687Arg)
c.3082G>C (p.Gly1028Arg)
2g.189045889C>TCA349862761COL5A2c.3220G>A (p.Gly1074Arg)
c.2059G>A (p.Gly687Arg)
c.3082G>A (p.Gly1028Arg)
2g.189045890A>CCA430321262COL5A2c.3219T>G (p.Pro1073=)
c.2058T>G (p.Pro686=)
c.3081T>G (p.Pro1027=)
2g.189045890A>GCA430321263COL5A2c.3219T>C (p.Pro1073=)
c.2058T>C (p.Pro686=)
c.3081T>C (p.Pro1027=)
 COSMIC
2g.189045890A>TCA430321264COL5A2c.3219T>A (p.Pro1073=)
c.2058T>A (p.Pro686=)
c.3081T>A (p.Pro1027=)
2g.189045891G>ACA349862768COL5A2c.3218C>T (p.Pro1073Leu)
c.2057C>T (p.Pro686Leu)
c.3080C>T (p.Pro1027Leu)
2g.189045891G>CCA62590057COL5A2c.3218C>G (p.Pro1073Arg)
c.2057C>G (p.Pro686Arg)
c.3080C>G (p.Pro1027Arg)
 dbSNP
2g.189045891G=CA1315418879COL5A2c.3218C= (p.Pro1073=)
c.2057C= (p.Pro686=)
c.3080C= (p.Pro1027=)
2g.189045891G>TCA349862771COL5A2c.3218C>A (p.Pro1073His)
c.2057C>A (p.Pro686His)
c.3080C>A (p.Pro1027His)
 gnomAD v4
2g.189045892G>ACA349862774COL5A2c.3217C>T (p.Pro1073Ser)
c.2056C>T (p.Pro686Ser)
c.3079C>T (p.Pro1027Ser)
2g.189045892G>CCA349862776COL5A2c.3217C>G (p.Pro1073Ala)
c.2056C>G (p.Pro686Ala)
c.3079C>G (p.Pro1027Ala)
2g.189045892G>TCA349862779COL5A2c.3217C>A (p.Pro1073Thr)
c.2056C>A (p.Pro686Thr)
c.3079C>A (p.Pro1027Thr)
2g.189045893G>ACA430321265COL5A2c.3216C>T (p.Asp1072=)
c.2055C>T (p.Asp685=)
c.3078C>T (p.Asp1026=)
2g.189045893G>CCA349862782COL5A2c.3216C>G (p.Asp1072Glu)
c.2055C>G (p.Asp685Glu)
c.3078C>G (p.Asp1026Glu)
2g.189045893G>TCA349862785COL5A2c.3216C>A (p.Asp1072Glu)
c.2055C>A (p.Asp685Glu)
c.3078C>A (p.Asp1026Glu)
2g.189045894T>ACA349862791COL5A2c.3215A>T (p.Asp1072Val)
c.2054A>T (p.Asp685Val)
c.3077A>T (p.Asp1026Val)
2g.189045894T>CCA349862792COL5A2c.3215A>G (p.Asp1072Gly)
c.2054A>G (p.Asp685Gly)
c.3077A>G (p.Asp1026Gly)
2g.189045894T>GCA349862796COL5A2c.3215A>C (p.Asp1072Ala)
c.2054A>C (p.Asp685Ala)
c.3077A>C (p.Asp1026Ala)
2g.189045895C>ACA349862808COL5A2c.3214G>T (p.Asp1072Tyr)
c.2053G>T (p.Asp685Tyr)
c.3076G>T (p.Asp1026Tyr)
 gnomAD v4
2g.189045895C>GCA349862805COL5A2c.3214G>C (p.Asp1072His)
c.2053G>C (p.Asp685His)
c.3076G>C (p.Asp1026His)
2g.189045895C>TCA349862800COL5A2c.3214G>A (p.Asp1072Asn)
c.2053G>A (p.Asp685Asn)
c.3076G>A (p.Asp1026Asn)
 ClinVar
2g.189045896T>ACA430321266COL5A2c.3213A>T (p.Gly1071=)
c.2052A>T (p.Gly684=)
c.3075A>T (p.Gly1025=)
2g.189045896T>CCA430321268COL5A2c.3213A>G (p.Gly1071=)
c.2052A>G (p.Gly684=)
c.3075A>G (p.Gly1025=)
2g.189045896T>GCA430321267COL5A2c.3213A>C (p.Gly1071=)
c.2052A>C (p.Gly684=)
c.3075A>C (p.Gly1025=)
2g.189045897C>ACA349862815COL5A2c.3212G>T (p.Gly1071Val)
c.2051G>T (p.Gly684Val)
c.3074G>T (p.Gly1025Val)
2g.189045897C>GCA349862818COL5A2c.3212G>C (p.Gly1071Ala)
c.2051G>C (p.Gly684Ala)
c.3074G>C (p.Gly1025Ala)
2g.189045897C>TCA349862833COL5A2c.3212G>A (p.Gly1071Glu)
c.2051G>A (p.Gly684Glu)
c.3074G>A (p.Gly1025Glu)
2g.189045898C>ACA349862837COL5A2c.3211G>T (p.Gly1071Ter)
c.2050G>T (p.Gly684Ter)
c.3073G>T (p.Gly1025Ter)
2g.189045898C>GCA349862839COL5A2c.3211G>C (p.Gly1071Arg)
c.2050G>C (p.Gly684Arg)
c.3073G>C (p.Gly1025Arg)
2g.189045898C>TCA349862840COL5A2c.3211G>A (p.Gly1071Arg)
c.2050G>A (p.Gly684Arg)
c.3073G>A (p.Gly1025Arg)
2g.189045899A>CCA430321270COL5A2c.3210T>G (p.Arg1070=)
c.2049T>G (p.Arg683=)
c.3072T>G (p.Arg1024=)
2g.189045899A>GCA430321271COL5A2c.3210T>C (p.Arg1070=)
c.2049T>C (p.Arg683=)
c.3072T>C (p.Arg1024=)
2g.189045899A>TCA430321272COL5A2c.3210T>A (p.Arg1070=)
c.2049T>A (p.Arg683=)
c.3072T>A (p.Arg1024=)
2g.189045900C>ACA349862844COL5A2c.3209G>T (p.Arg1070Leu)
c.2048G>T (p.Arg683Leu)
c.3071G>T (p.Arg1024Leu)
2g.189045900C=CA1315418884COL5A2c.3209G= (p.Arg1070=)
c.2048G= (p.Arg683=)
c.3071G= (p.Arg1024=)
2g.189045900C>GCA349862847COL5A2c.3209G>C (p.Arg1070Pro)
c.2048G>C (p.Arg683Pro)
c.3071G>C (p.Arg1024Pro)
2g.189045900C>TCA245756COL5A2c.3209G>A (p.Arg1070His)
c.2048G>A (p.Arg683His)
c.3071G>A (p.Arg1024His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189045901G>ACA324192COL5A2c.3208C>T (p.Arg1070Cys)
c.2047C>T (p.Arg683Cys)
c.3070C>T (p.Arg1024Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189045901G>CCA349862858COL5A2c.3208C>G (p.Arg1070Gly)
c.2047C>G (p.Arg683Gly)
c.3070C>G (p.Arg1024Gly)
2g.189045901G=CA1315418891COL5A2c.3208C= (p.Arg1070=)
c.2047C= (p.Arg683=)
c.3070C= (p.Arg1024=)
2g.189045901G>TCA349862860COL5A2c.3208C>A (p.Arg1070Ser)
c.2047C>A (p.Arg683Ser)
c.3070C>A (p.Arg1024Ser)
2g.189045902A>CCA349862864COL5A2c.3207T>G (p.Asp1069Glu)
c.2046T>G (p.Asp682Glu)
c.3069T>G (p.Asp1023Glu)
2g.189045902A>GCA430321273COL5A2c.3207T>C (p.Asp1069=)
c.2046T>C (p.Asp682=)
c.3069T>C (p.Asp1023=)
 ClinVar gnomAD v4
2g.189045902A>TCA349862867COL5A2c.3207T>A (p.Asp1069Glu)
c.2046T>A (p.Asp682Glu)
c.3069T>A (p.Asp1023Glu)
2g.189045903T>ACA349862895COL5A2c.3206A>T (p.Asp1069Val)
c.2045A>T (p.Asp682Val)
c.3068A>T (p.Asp1023Val)
2g.189045903T>CCA349862899COL5A2c.3206A>G (p.Asp1069Gly)
c.2045A>G (p.Asp682Gly)
c.3068A>G (p.Asp1023Gly)
 gnomAD v4
2g.189045903T>GCA349862881COL5A2c.3206A>C (p.Asp1069Ala)
c.2045A>C (p.Asp682Ala)
c.3068A>C (p.Asp1023Ala)
2g.189045904C>ACA349862903COL5A2c.3205G>T (p.Asp1069Tyr)
c.2044G>T (p.Asp682Tyr)
c.3067G>T (p.Asp1023Tyr)
2g.189045904C>GCA349862905COL5A2c.3205G>C (p.Asp1069His)
c.2044G>C (p.Asp682His)
c.3067G>C (p.Asp1023His)
2g.189045904C>TCA349862913COL5A2c.3205G>A (p.Asp1069Asn)
c.2044G>A (p.Asp682Asn)
c.3067G>A (p.Asp1023Asn)
2g.189045905A>CCA430321278COL5A2c.3204T>G (p.Gly1068=)
c.2043T>G (p.Gly681=)
c.3066T>G (p.Gly1022=)
2g.189045905A>GCA430321279COL5A2c.3204T>C (p.Gly1068=)
c.2043T>C (p.Gly681=)
c.3066T>C (p.Gly1022=)
2g.189045905A>TCA430321277COL5A2c.3204T>A (p.Gly1068=)
c.2043T>A (p.Gly681=)
c.3066T>A (p.Gly1022=)

Number of alleles fetched