Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189052884A=CA1315426024COL5A2c.2661+27T= (n.2661+27T=)
c.1500+27T= (n.1500+27T=)
c.2523+27T= (n.2523+27T=)
2g.189052884A>CCA1315426025COL5A2c.2661+27T>G (n.2661+27T>G)
c.1500+27T>G (n.1500+27T>G)
c.2523+27T>G (n.2523+27T>G)
 dbSNP gnomAD v4
2g.189052884A>GCA2662318317COL5A2c.2661+27T>C (n.2661+27T>C)
c.1500+27T>C (n.1500+27T>C)
c.2523+27T>C (n.2523+27T>C)
 gnomAD v4
2g.189052885G>ACA2577186592COL5A2c.2661+26C>T (n.2661+26C>T)
c.1500+26C>T (n.1500+26C>T)
c.2523+26C>T (n.2523+26C>T)
2g.189052886T>CCA2662318318COL5A2c.2661+25A>G (n.2661+25A>G)
c.1500+25A>G (n.1500+25A>G)
c.2523+25A>G (n.2523+25A>G)
 gnomAD v4
2g.189052889T>CCA762258185COL5A2c.2661+22A>G (n.2661+22A>G)
c.1500+22A>G (n.1500+22A>G)
c.2523+22A>G (n.2523+22A>G)
 dbSNP
2g.189052889T=CA1315426026COL5A2c.2661+22A= (n.2661+22A=)
c.1500+22A= (n.1500+22A=)
c.2523+22A= (n.2523+22A=)
2g.189052890G=CA1315426027COL5A2c.2661+21C= (n.2661+21C=)
c.1500+21C= (n.1500+21C=)
c.2523+21C= (n.2523+21C=)
2g.189052890G>TCA762258188COL5A2c.2661+21C>A (n.2661+21C>A)
c.1500+21C>A (n.1500+21C>A)
c.2523+21C>A (n.2523+21C>A)
 dbSNP
2g.189052890_189052891insTTACA2022246COL5A2c.2661+20_2661+21insTAA (n.2661+20_2661+21insTAA)
c.1500+20_1500+21insTAA (n.1500+20_1500+21insTAA)
c.2523+20_2523+21insTAA (n.2523+20_2523+21insTAA)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052891C>ACA2022247COL5A2c.2661+20G>T (n.2661+20G>T)
c.1500+20G>T (n.1500+20G>T)
c.2523+20G>T (n.2523+20G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052891C=CA1315426028COL5A2c.2661+20G= (n.2661+20G=)
c.1500+20G= (n.1500+20G=)
c.2523+20G= (n.2523+20G=)
2g.189052891C>TCA290383COL5A2c.2661+20G>A (n.2661+20G>A)
c.1500+20G>A (n.1500+20G>A)
c.2523+20G>A (n.2523+20G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052891_189052894delinsTTAACTTGACTCAAGCA2739278112COL5A2c.2661+17_2661+20delinsCTTGAGTCAAGTTAA (n.2661+17_2661+20delinsCTTGAGTCAAGTTAA)
c.1500+17_1500+20delinsCTTGAGTCAAGTTAA (n.1500+17_1500+20delinsCTTGAGTCAAGTTAA)
c.2523+17_2523+20delinsCTTGAGTCAAGTTAA (n.2523+17_2523+20delinsCTTGAGTCAAGTTAA)
 ClinVar
2g.189052893T>ACA2701153262COL5A2c.2661+18A>T (n.2661+18A>T)
c.1500+18A>T (n.1500+18A>T)
c.2523+18A>T (n.2523+18A>T)
 dbSNP
2g.189052893T>CCA2662318319COL5A2c.2661+18A>G (n.2661+18A>G)
c.1500+18A>G (n.1500+18A>G)
c.2523+18A>G (n.2523+18A>G)
 gnomAD v4
2g.189052894T=CA1315426029COL5A2c.2661+17A= (n.2661+17A=)
c.1500+17A= (n.1500+17A=)
c.2523+17A= (n.2523+17A=)
2g.189052894_189052895insGACTCAAGCA2022248COL5A2c.2661+16_2661+17insCTTGAGTC (n.2661+16_2661+17insCTTGAGTC)
c.1500+16_1500+17insCTTGAGTC (n.1500+16_1500+17insCTTGAGTC)
c.2523+16_2523+17insCTTGAGTC (n.2523+16_2523+17insCTTGAGTC)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052897T>CCA2662318320COL5A2c.2661+14A>G (n.2661+14A>G)
c.1500+14A>G (n.1500+14A>G)
c.2523+14A>G (n.2523+14A>G)
 gnomAD v4
2g.189052898C>ACA2022249COL5A2c.2661+13G>T (n.2661+13G>T)
c.1500+13G>T (n.1500+13G>T)
c.2523+13G>T (n.2523+13G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052898C=CA1315426030COL5A2c.2661+13G= (n.2661+13G=)
c.1500+13G= (n.1500+13G=)
c.2523+13G= (n.2523+13G=)
2g.189052899T>CCA2577186593COL5A2c.2661+12A>G (n.2661+12A>G)
c.1500+12A>G (n.1500+12A>G)
c.2523+12A>G (n.2523+12A>G)
2g.189052900T>CCA2022250COL5A2c.2661+11A>G (n.2661+11A>G)
c.1500+11A>G (n.1500+11A>G)
c.2523+11A>G (n.2523+11A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052900T=CA1315426031COL5A2c.2661+11A= (n.2661+11A=)
c.1500+11A= (n.1500+11A=)
c.2523+11A= (n.2523+11A=)
2g.189052901G>ACA2580065305COL5A2c.2661+10C>T (n.2661+10C>T)
c.1500+10C>T (n.1500+10C>T)
c.2523+10C>T (n.2523+10C>T)
 ClinVar
2g.189052901G>TCA2740096387COL5A2c.2661+10C>A (n.2661+10C>A)
c.1500+10C>A (n.1500+10C>A)
c.2523+10C>A (n.2523+10C>A)
 ClinVar
2g.189052903T>CCA2022251COL5A2c.2661+8A>G (n.2661+8A>G)
c.1500+8A>G (n.1500+8A>G)
c.2523+8A>G (n.2523+8A>G)
 dbSNP ExAC gnomAD v2
2g.189052903T=CA1315426032COL5A2c.2661+8A= (n.2661+8A=)
c.1500+8A= (n.1500+8A=)
c.2523+8A= (n.2523+8A=)
2g.189052904A>GCA2577186594COL5A2c.2661+7T>C (n.2661+7T>C)
c.1500+7T>C (n.1500+7T>C)
c.2523+7T>C (n.2523+7T>C)
2g.189052907T>CCA2662318321COL5A2c.2661+4A>G (n.2661+4A>G)
c.1500+4A>G (n.1500+4A>G)
c.2523+4A>G (n.2523+4A>G)
 gnomAD v4
2g.189052908T>GCA2662318322COL5A2c.2661+3A>C (n.2661+3A>C)
c.1500+3A>C (n.1500+3A>C)
c.2523+3A>C (n.2523+3A>C)
 gnomAD v4
2g.189052909A>CCA349870858COL5A2c.2661+2T>G (n.2661+2T>G)
c.1500+2T>G (n.1500+2T>G)
c.2523+2T>G (n.2523+2T>G)
2g.189052909A>GCA349870859COL5A2c.2661+2T>C (n.2661+2T>C)
c.1500+2T>C (n.1500+2T>C)
c.2523+2T>C (n.2523+2T>C)
2g.189052909A>TCA349870860COL5A2c.2661+2T>A (n.2661+2T>A)
c.1500+2T>A (n.1500+2T>A)
c.2523+2T>A (n.2523+2T>A)
2g.189052910C>ACA349870863COL5A2c.2661+1G>T (n.2661+1G>T)
c.1500+1G>T (n.1500+1G>T)
c.2523+1G>T (n.2523+1G>T)
2g.189052910C>GCA349870866COL5A2c.2661+1G>C (n.2661+1G>C)
c.1500+1G>C (n.1500+1G>C)
c.2523+1G>C (n.2523+1G>C)
2g.189052910C>TCA349870868COL5A2c.2661+1G>A (n.2661+1G>A)
c.1500+1G>A (n.1500+1G>A)
c.2523+1G>A (n.2523+1G>A)
2g.189052911A=CA1315426033COL5A2c.2661T= (p.His887=)
c.1500T= (p.His500=)
c.2523T= (p.His841=)
2g.189052911A>CCA349870870COL5A2c.2661T>G (p.His887Gln)
c.1500T>G (p.His500Gln)
c.2523T>G (p.His841Gln)
2g.189052911A>GCA2022252COL5A2c.2661T>C (p.His887=)
c.1500T>C (p.His500=)
c.2523T>C (p.His841=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052911A>TCA349870874COL5A2c.2661T>A (p.His887Gln)
c.1500T>A (p.His500Gln)
c.2523T>A (p.His841Gln)
 ClinVar gnomAD v4
2g.189052912T>ACA349870877COL5A2c.2660A>T (p.His887Leu)
c.1499A>T (p.His500Leu)
c.2522A>T (p.His841Leu)
2g.189052912T>CCA349870879COL5A2c.2660A>G (p.His887Arg)
c.1499A>G (p.His500Arg)
c.2522A>G (p.His841Arg)
2g.189052912T>GCA349870881COL5A2c.2660A>C (p.His887Pro)
c.1499A>C (p.His500Pro)
c.2522A>C (p.His841Pro)
2g.189052913G>ACA349870887COL5A2c.2659C>T (p.His887Tyr)
c.1498C>T (p.His500Tyr)
c.2521C>T (p.His841Tyr)
 gnomAD v4
2g.189052913G>CCA349870885COL5A2c.2659C>G (p.His887Asp)
c.1498C>G (p.His500Asp)
c.2521C>G (p.His841Asp)
2g.189052913G>TCA349870883COL5A2c.2659C>A (p.His887Asn)
c.1498C>A (p.His500Asn)
c.2521C>A (p.His841Asn)
2g.189052914A>CCA430322997COL5A2c.2658T>G (p.Pro886=)
c.1497T>G (p.Pro499=)
c.2520T>G (p.Pro840=)
2g.189052914A>GCA430322998COL5A2c.2658T>C (p.Pro886=)
c.1497T>C (p.Pro499=)
c.2520T>C (p.Pro840=)
2g.189052914A>TCA430323000COL5A2c.2658T>A (p.Pro886=)
c.1497T>A (p.Pro499=)
c.2520T>A (p.Pro840=)
2g.189052915G>ACA349870893COL5A2c.2657C>T (p.Pro886Leu)
c.1496C>T (p.Pro499Leu)
c.2519C>T (p.Pro840Leu)
2g.189052915G>CCA349870892COL5A2c.2657C>G (p.Pro886Arg)
c.1496C>G (p.Pro499Arg)
c.2519C>G (p.Pro840Arg)
2g.189052915G>TCA349870895COL5A2c.2657C>A (p.Pro886His)
c.1496C>A (p.Pro499His)
c.2519C>A (p.Pro840His)
2g.189052916G>ACA349870897COL5A2c.2656C>T (p.Pro886Ser)
c.1495C>T (p.Pro499Ser)
c.2518C>T (p.Pro840Ser)
 COSMIC
2g.189052916G>CCA349870898COL5A2c.2656C>G (p.Pro886Ala)
c.1495C>G (p.Pro499Ala)
c.2518C>G (p.Pro840Ala)
2g.189052916G>TCA349870900COL5A2c.2656C>A (p.Pro886Thr)
c.1495C>A (p.Pro499Thr)
c.2518C>A (p.Pro840Thr)
2g.189052917G>ACA430323002COL5A2c.2655C>T (p.Gly885=)
c.1494C>T (p.Gly498=)
c.2517C>T (p.Gly839=)
2g.189052917G>CCA430323005COL5A2c.2655C>G (p.Gly885=)
c.1494C>G (p.Gly498=)
c.2517C>G (p.Gly839=)
2g.189052917G>TCA430323004COL5A2c.2655C>A (p.Gly885=)
c.1494C>A (p.Gly498=)
c.2517C>A (p.Gly839=)
2g.189052918C>ACA349870901COL5A2c.2654G>T (p.Gly885Val)
c.1493G>T (p.Gly498Val)
c.2516G>T (p.Gly839Val)
2g.189052918C>GCA349870903COL5A2c.2654G>C (p.Gly885Ala)
c.1493G>C (p.Gly498Ala)
c.2516G>C (p.Gly839Ala)
2g.189052918C>TCA349870905COL5A2c.2654G>A (p.Gly885Asp)
c.1493G>A (p.Gly498Asp)
c.2516G>A (p.Gly839Asp)
2g.189052919C>ACA349870907COL5A2c.2653G>T (p.Gly885Cys)
c.1492G>T (p.Gly498Cys)
c.2515G>T (p.Gly839Cys)
2g.189052919C>GCA349870908COL5A2c.2653G>C (p.Gly885Arg)
c.1492G>C (p.Gly498Arg)
c.2515G>C (p.Gly839Arg)
2g.189052919C>TCA349870910COL5A2c.2653G>A (p.Gly885Ser)
c.1492G>A (p.Gly498Ser)
c.2515G>A (p.Gly839Ser)
 ClinVar
2g.189052920A>CCA430323009COL5A2c.2652T>G (p.Pro884=)
c.1491T>G (p.Pro497=)
c.2514T>G (p.Pro838=)
2g.189052920A>GCA430323011COL5A2c.2652T>C (p.Pro884=)
c.1491T>C (p.Pro497=)
c.2514T>C (p.Pro838=)
2g.189052920A>TCA430323010COL5A2c.2652T>A (p.Pro884=)
c.1491T>A (p.Pro497=)
c.2514T>A (p.Pro838=)
2g.189052921G>ACA349870912COL5A2c.2651C>T (p.Pro884Leu)
c.1490C>T (p.Pro497Leu)
c.2513C>T (p.Pro838Leu)
 dbSNP
2g.189052921G>CCA349870914COL5A2c.2651C>G (p.Pro884Arg)
c.1490C>G (p.Pro497Arg)
c.2513C>G (p.Pro838Arg)
2g.189052921G=CA1315426034COL5A2c.2651C= (p.Pro884=)
c.1490C= (p.Pro497=)
c.2513C= (p.Pro838=)
2g.189052921G>TCA349870915COL5A2c.2651C>A (p.Pro884His)
c.1490C>A (p.Pro497His)
c.2513C>A (p.Pro838His)
2g.189052922G>ACA349870921COL5A2c.2650C>T (p.Pro884Ser)
c.1489C>T (p.Pro497Ser)
c.2512C>T (p.Pro838Ser)
 COSMIC
2g.189052922G>CCA349870919COL5A2c.2650C>G (p.Pro884Ala)
c.1489C>G (p.Pro497Ala)
c.2512C>G (p.Pro838Ala)
2g.189052922G>TCA349870917COL5A2c.2650C>A (p.Pro884Thr)
c.1489C>A (p.Pro497Thr)
c.2512C>A (p.Pro838Thr)
 ClinVar
2g.189052923G>ACA430323017COL5A2c.2649C>T (p.Ser883=)
c.1488C>T (p.Ser496=)
c.2511C>T (p.Ser837=)
2g.189052923G>CCA430323015COL5A2c.2649C>G (p.Ser883=)
c.1488C>G (p.Ser496=)
c.2511C>G (p.Ser837=)
2g.189052923G=CA1315426035COL5A2c.2649C= (p.Ser883=)
c.1488C= (p.Ser496=)
c.2511C= (p.Ser837=)
2g.189052923G>TCA430323013COL5A2c.2649C>A (p.Ser883=)
c.1488C>A (p.Ser496=)
c.2511C>A (p.Ser837=)
 dbSNP gnomAD v3 gnomAD v4
2g.189052924G>ACA349870923COL5A2c.2648C>T (p.Ser883Phe)
c.1487C>T (p.Ser496Phe)
c.2510C>T (p.Ser837Phe)
 gnomAD v4
2g.189052924G>CCA349870924COL5A2c.2648C>G (p.Ser883Cys)
c.1487C>G (p.Ser496Cys)
c.2510C>G (p.Ser837Cys)
2g.189052924G=CA1315426036COL5A2c.2648C= (p.Ser883=)
c.1487C= (p.Ser496=)
c.2510C= (p.Ser837=)
2g.189052924G>TCA323893COL5A2c.2648C>A (p.Ser883Tyr)
c.1487C>A (p.Ser496Tyr)
c.2510C>A (p.Ser837Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189052925A>CCA349870929COL5A2c.2647T>G (p.Ser883Ala)
c.1486T>G (p.Ser496Ala)
c.2509T>G (p.Ser837Ala)
2g.189052925A>GCA349870930COL5A2c.2647T>C (p.Ser883Pro)
c.1486T>C (p.Ser496Pro)
c.2509T>C (p.Ser837Pro)
2g.189052925A>TCA349870933COL5A2c.2647T>A (p.Ser883Thr)
c.1486T>A (p.Ser496Thr)
c.2509T>A (p.Ser837Thr)
 ClinVar gnomAD v4
2g.189052926T>ACA430323018COL5A2c.2646A>T (p.Gly882=)
c.1485A>T (p.Gly495=)
c.2508A>T (p.Gly836=)
2g.189052926T>CCA430323020COL5A2c.2646A>G (p.Gly882=)
c.1485A>G (p.Gly495=)
c.2508A>G (p.Gly836=)
2g.189052926T>GCA430323019COL5A2c.2646A>C (p.Gly882=)
c.1485A>C (p.Gly495=)
c.2508A>C (p.Gly836=)
2g.189052927C>ACA349870937COL5A2c.2645G>T (p.Gly882Val)
c.1484G>T (p.Gly495Val)
c.2507G>T (p.Gly836Val)
2g.189052927C>GCA349870940COL5A2c.2645G>C (p.Gly882Ala)
c.1484G>C (p.Gly495Ala)
c.2507G>C (p.Gly836Ala)
2g.189052927C>TCA349870943COL5A2c.2645G>A (p.Gly882Glu)
c.1484G>A (p.Gly495Glu)
c.2507G>A (p.Gly836Glu)
2g.189052928C>ACA349870947COL5A2c.2644G>T (p.Gly882Ter)
c.1483G>T (p.Gly495Ter)
c.2506G>T (p.Gly836Ter)
2g.189052928C>GCA349870950COL5A2c.2644G>C (p.Gly882Arg)
c.1483G>C (p.Gly495Arg)
c.2506G>C (p.Gly836Arg)
2g.189052928C>TCA349870954COL5A2c.2644G>A (p.Gly882Arg)
c.1483G>A (p.Gly495Arg)
c.2506G>A (p.Gly836Arg)
 gnomAD v4
2g.189052929T>ACA430323024COL5A2c.2643A>T (p.Ala881=)
c.1482A>T (p.Ala494=)
c.2505A>T (p.Ala835=)
2g.189052929T>CCA430323025COL5A2c.2643A>G (p.Ala881=)
c.1482A>G (p.Ala494=)
c.2505A>G (p.Ala835=)
 gnomAD v4
2g.189052929T>GCA430323026COL5A2c.2643A>C (p.Ala881=)
c.1482A>C (p.Ala494=)
c.2505A>C (p.Ala835=)
2g.189052930G>ACA349870963COL5A2c.2642C>T (p.Ala881Val)
c.1481C>T (p.Ala494Val)
c.2504C>T (p.Ala835Val)
 ClinVar dbSNP gnomAD v4
2g.189052930G>CCA349870961COL5A2c.2642C>G (p.Ala881Gly)
c.1481C>G (p.Ala494Gly)
c.2504C>G (p.Ala835Gly)
2g.189052930G=CA1315426037COL5A2c.2642C= (p.Ala881=)
c.1481C= (p.Ala494=)
c.2504C= (p.Ala835=)
2g.189052930G>TCA349870958COL5A2c.2642C>A (p.Ala881Glu)
c.1481C>A (p.Ala494Glu)
c.2504C>A (p.Ala835Glu)
2g.189052931C>ACA349870965COL5A2c.2641G>T (p.Ala881Ser)
c.1480G>T (p.Ala494Ser)
c.2503G>T (p.Ala835Ser)
 ClinVar dbSNP gnomAD v4
2g.189052931C=CA1315426038COL5A2c.2641G= (p.Ala881=)
c.1480G= (p.Ala494=)
c.2503G= (p.Ala835=)
2g.189052931C>GCA349870968COL5A2c.2641G>C (p.Ala881Pro)
c.1480G>C (p.Ala494Pro)
c.2503G>C (p.Ala835Pro)
2g.189052931C>TCA2022253COL5A2c.2641G>A (p.Ala881Thr)
c.1480G>A (p.Ala494Thr)
c.2503G>A (p.Ala835Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052932T>ACA349870974COL5A2c.2640A>T (p.Leu880Phe)
c.1479A>T (p.Leu493Phe)
c.2502A>T (p.Leu834Phe)
2g.189052932T>CCA430323028COL5A2c.2640A>G (p.Leu880=)
c.1479A>G (p.Leu493=)
c.2502A>G (p.Leu834=)
 dbSNP gnomAD v3 gnomAD v4
2g.189052932T>GCA349870976COL5A2c.2640A>C (p.Leu880Phe)
c.1479A>C (p.Leu493Phe)
c.2502A>C (p.Leu834Phe)
2g.189052932T=CA1315426039COL5A2c.2640A= (p.Leu880=)
c.1479A= (p.Leu493=)
c.2502A= (p.Leu834=)
2g.189052933A>CCA349870980COL5A2c.2639T>G (p.Leu880Ter)
c.1478T>G (p.Leu493Ter)
c.2501T>G (p.Leu834Ter)
2g.189052933A>GCA349870983COL5A2c.2639T>C (p.Leu880Ser)
c.1478T>C (p.Leu493Ser)
c.2501T>C (p.Leu834Ser)
2g.189052933A>TCA349870985COL5A2c.2639T>A (p.Leu880Ter)
c.1478T>A (p.Leu493Ter)
c.2501T>A (p.Leu834Ter)
2g.189052934A>CCA349870988COL5A2c.2638T>G (p.Leu880Val)
c.1477T>G (p.Leu493Val)
c.2500T>G (p.Leu834Val)
2g.189052934A>GCA430323030COL5A2c.2638T>C (p.Leu880=)
c.1477T>C (p.Leu493=)
c.2500T>C (p.Leu834=)
2g.189052934A>TCA349870991COL5A2c.2638T>A (p.Leu880Ile)
c.1477T>A (p.Leu493Ile)
c.2500T>A (p.Leu834Ile)
2g.189052935A>CCA430323031COL5A2c.2637T>G (p.Gly879=)
c.1476T>G (p.Gly492=)
c.2499T>G (p.Gly833=)
 dbSNP
2g.189052935A>GCA430323032COL5A2c.2637T>C (p.Gly879=)
c.1476T>C (p.Gly492=)
c.2499T>C (p.Gly833=)
2g.189052935A>TCA430323033COL5A2c.2637T>A (p.Gly879=)
c.1476T>A (p.Gly492=)
c.2499T>A (p.Gly833=)
2g.189052936C>ACA349870995COL5A2c.2636G>T (p.Gly879Val)
c.1475G>T (p.Gly492Val)
c.2498G>T (p.Gly833Val)
2g.189052936C>GCA349870998COL5A2c.2636G>C (p.Gly879Ala)
c.1475G>C (p.Gly492Ala)
c.2498G>C (p.Gly833Ala)
2g.189052936C>TCA349870999COL5A2c.2636G>A (p.Gly879Asp)
c.1475G>A (p.Gly492Asp)
c.2498G>A (p.Gly833Asp)
2g.189052937C>ACA349871007COL5A2c.2635G>T (p.Gly879Cys)
c.1474G>T (p.Gly492Cys)
c.2497G>T (p.Gly833Cys)
2g.189052937C>GCA349871002COL5A2c.2635G>C (p.Gly879Arg)
c.1474G>C (p.Gly492Arg)
c.2497G>C (p.Gly833Arg)
2g.189052937C>TCA349871004COL5A2c.2635G>A (p.Gly879Ser)
c.1474G>A (p.Gly492Ser)
c.2497G>A (p.Gly833Ser)
2g.189052938T>ACA349871010COL5A2c.2634A>T (p.Gln878His)
c.1473A>T (p.Gln491His)
c.2496A>T (p.Gln832His)
 ClinVar gnomAD v4
2g.189052938T>CCA2022254COL5A2c.2634A>G (p.Gln878=)
c.1473A>G (p.Gln491=)
c.2496A>G (p.Gln832=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052938T>GCA349871014COL5A2c.2634A>C (p.Gln878His)
c.1473A>C (p.Gln491His)
c.2496A>C (p.Gln832His)
2g.189052938T=CA1315426040COL5A2c.2634A= (p.Gln878=)
c.1473A= (p.Gln491=)
c.2496A= (p.Gln832=)
2g.189052939T>ACA349871020COL5A2c.2633A>T (p.Gln878Leu)
c.1472A>T (p.Gln491Leu)
c.2495A>T (p.Gln832Leu)
2g.189052939T>CCA2022255COL5A2c.2633A>G (p.Gln878Arg)
c.1472A>G (p.Gln491Arg)
c.2495A>G (p.Gln832Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189052939T>GCA349871023COL5A2c.2633A>C (p.Gln878Pro)
c.1472A>C (p.Gln491Pro)
c.2495A>C (p.Gln832Pro)
2g.189052939T=CA1315426041COL5A2c.2633A= (p.Gln878=)
c.1472A= (p.Gln491=)
c.2495A= (p.Gln832=)
2g.189052940G>ACA349871027COL5A2c.2632C>T (p.Gln878Ter)
c.1471C>T (p.Gln491Ter)
c.2494C>T (p.Gln832Ter)
2g.189052940G>CCA349871029COL5A2c.2632C>G (p.Gln878Glu)
c.1471C>G (p.Gln491Glu)
c.2494C>G (p.Gln832Glu)
2g.189052940G>TCA349871032COL5A2c.2632C>A (p.Gln878Lys)
c.1471C>A (p.Gln491Lys)
c.2494C>A (p.Gln832Lys)
2g.189052941T>ACA430323035COL5A2c.2631A>T (p.Pro877=)
c.1470A>T (p.Pro490=)
c.2493A>T (p.Pro831=)
2g.189052941T>CCA430323037COL5A2c.2631A>G (p.Pro877=)
c.1470A>G (p.Pro490=)
c.2493A>G (p.Pro831=)
2g.189052941T>GCA430323036COL5A2c.2631A>C (p.Pro877=)
c.1470A>C (p.Pro490=)
c.2493A>C (p.Pro831=)
2g.189052941T=CA1315426042COL5A2c.2631A= (p.Pro877=)
c.1470A= (p.Pro490=)
c.2493A= (p.Pro831=)
2g.189052941_189052942insTTACA538452226COL5A2c.2630_2631insTAA (p.Pro877_Gln878insLys)
c.1469_1470insTAA (p.Pro490_Gln491insLys)
c.2492_2493insTAA (p.Pro831_Gln832insLys)
 dbSNP gnomAD v2 gnomAD v4
2g.189052942G>ACA349871036COL5A2c.2630C>T (p.Pro877Leu)
c.1469C>T (p.Pro490Leu)
c.2492C>T (p.Pro831Leu)
2g.189052942G>CCA349871039COL5A2c.2630C>G (p.Pro877Arg)
c.1469C>G (p.Pro490Arg)
c.2492C>G (p.Pro831Arg)
2g.189052942G>TCA349871041COL5A2c.2630C>A (p.Pro877Gln)
c.1469C>A (p.Pro490Gln)
c.2492C>A (p.Pro831Gln)
2g.189052942_189052945delinsGGTCCA1315426043COL5A2c.2627_2630delinsGACC (p.Gly876=)
c.1466_1469delinsGACC (p.Gly489=)
c.2489_2492delinsGACC (p.Gly830=)
2g.189052943G>ACA349871047COL5A2c.2629C>T (p.Pro877Ser)
c.1468C>T (p.Pro490Ser)
c.2491C>T (p.Pro831Ser)
2g.189052943G>CCA349871052COL5A2c.2629C>G (p.Pro877Ala)
c.1468C>G (p.Pro490Ala)
c.2491C>G (p.Pro831Ala)
2g.189052943G>TCA349871046COL5A2c.2629C>A (p.Pro877Thr)
c.1468C>A (p.Pro490Thr)
c.2491C>A (p.Pro831Thr)
2g.189052943_189052945delCA538452228COL5A2c.2627_2629del (p.Gly876_Pro877delinsAla)
c.1466_1468del (p.Gly489_Pro490delinsAla)
c.2489_2491del (p.Gly830_Pro831delinsAla)
 dbSNP gnomAD v2 gnomAD v4
2g.189052944T>ACA430323039COL5A2c.2628A>T (p.Gly876=)
c.1467A>T (p.Gly489=)
c.2490A>T (p.Gly830=)
2g.189052944T>CCA430323040COL5A2c.2628A>G (p.Gly876=)
c.1467A>G (p.Gly489=)
c.2490A>G (p.Gly830=)
2g.189052944T>GCA430323041COL5A2c.2628A>C (p.Gly876=)
c.1467A>C (p.Gly489=)
c.2490A>C (p.Gly830=)
2g.189052945C>ACA349871055COL5A2c.2627G>T (p.Gly876Val)
c.1466G>T (p.Gly489Val)
c.2489G>T (p.Gly830Val)
2g.189052945C=CA1315426044COL5A2c.2627G= (p.Gly876=)
c.1466G= (p.Gly489=)
c.2489G= (p.Gly830=)
2g.189052945C>GCA349871059COL5A2c.2627G>C (p.Gly876Ala)
c.1466G>C (p.Gly489Ala)
c.2489G>C (p.Gly830Ala)
 gnomAD v4
2g.189052945C>TCA10588328COL5A2c.2627G>A (p.Gly876Glu)
c.1466G>A (p.Gly489Glu)
c.2489G>A (p.Gly830Glu)
 ClinVar dbSNP
2g.189052946C>ACA349871063COL5A2c.2626G>T (p.Gly876Ter)
c.1465G>T (p.Gly489Ter)
c.2488G>T (p.Gly830Ter)
2g.189052946C>GCA349871066COL5A2c.2626G>C (p.Gly876Arg)
c.1465G>C (p.Gly489Arg)
c.2488G>C (p.Gly830Arg)
2g.189052946C>TCA349871067COL5A2c.2626G>A (p.Gly876Arg)
c.1465G>A (p.Gly489Arg)
c.2488G>A (p.Gly830Arg)
2g.189052947A=CA1315426045COL5A2c.2625T= (p.Pro875=)
c.1464T= (p.Pro488=)
c.2487T= (p.Pro829=)
2g.189052947A>CCA430323044COL5A2c.2625T>G (p.Pro875=)
c.1464T>G (p.Pro488=)
c.2487T>G (p.Pro829=)
2g.189052947A>GCA2022256COL5A2c.2625T>C (p.Pro875=)
c.1464T>C (p.Pro488=)
c.2487T>C (p.Pro829=)
 dbSNP ExAC gnomAD v2
2g.189052947A>TCA430323046COL5A2c.2625T>A (p.Pro875=)
c.1464T>A (p.Pro488=)
c.2487T>A (p.Pro829=)
 gnomAD v4
2g.189052948G>ACA349871070COL5A2c.2624C>T (p.Pro875Leu)
c.1463C>T (p.Pro488Leu)
c.2486C>T (p.Pro829Leu)
2g.189052948G>CCA349871071COL5A2c.2624C>G (p.Pro875Arg)
c.1463C>G (p.Pro488Arg)
c.2486C>G (p.Pro829Arg)
2g.189052948G>TCA349871073COL5A2c.2624C>A (p.Pro875His)
c.1463C>A (p.Pro488His)
c.2486C>A (p.Pro829His)
2g.189052949G>ACA2022257COL5A2c.2623C>T (p.Pro875Ser)
c.1462C>T (p.Pro488Ser)
c.2485C>T (p.Pro829Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052949G>CCA349871077COL5A2c.2623C>G (p.Pro875Ala)
c.1462C>G (p.Pro488Ala)
c.2485C>G (p.Pro829Ala)
 dbSNP gnomAD v4
2g.189052949G=CA1315426046COL5A2c.2623C= (p.Pro875=)
c.1462C= (p.Pro488=)
c.2485C= (p.Pro829=)
2g.189052949G>TCA349871079COL5A2c.2623C>A (p.Pro875Thr)
c.1462C>A (p.Pro488Thr)
c.2485C>A (p.Pro829Thr)
2g.189052950A=CA1315426047COL5A2c.2622T= (p.Ser874=)
c.1461T= (p.Ser487=)
c.2484T= (p.Ser828=)
2g.189052950A>CCA430323048COL5A2c.2622T>G (p.Ser874=)
c.1461T>G (p.Ser487=)
c.2484T>G (p.Ser828=)
2g.189052950A>GCA430323049COL5A2c.2622T>C (p.Ser874=)
c.1461T>C (p.Ser487=)
c.2484T>C (p.Ser828=)
2g.189052950A>TCA430323050COL5A2c.2622T>A (p.Ser874=)
c.1461T>A (p.Ser487=)
c.2484T>A (p.Ser828=)
 dbSNP gnomAD v2 gnomAD v4
2g.189052951G>ACA349871087COL5A2c.2621C>T (p.Ser874Phe)
c.1460C>T (p.Ser487Phe)
c.2483C>T (p.Ser828Phe)
2g.189052951G>CCA349871089COL5A2c.2621C>G (p.Ser874Cys)
c.1460C>G (p.Ser487Cys)
c.2483C>G (p.Ser828Cys)
2g.189052951G>TCA349871091COL5A2c.2621C>A (p.Ser874Tyr)
c.1460C>A (p.Ser487Tyr)
c.2483C>A (p.Ser828Tyr)
2g.189052952A>CCA349871100COL5A2c.2620T>G (p.Ser874Ala)
c.1459T>G (p.Ser487Ala)
c.2482T>G (p.Ser828Ala)
2g.189052952A>GCA349871093COL5A2c.2620T>C (p.Ser874Pro)
c.1459T>C (p.Ser487Pro)
c.2482T>C (p.Ser828Pro)
2g.189052952A>TCA349871095COL5A2c.2620T>A (p.Ser874Thr)
c.1459T>A (p.Ser487Thr)
c.2482T>A (p.Ser828Thr)
2g.189052953A>CCA430323052COL5A2c.2619T>G (p.Gly873=)
c.1458T>G (p.Gly486=)
c.2481T>G (p.Gly827=)
2g.189052953A>GCA430323053COL5A2c.2619T>C (p.Gly873=)
c.1458T>C (p.Gly486=)
c.2481T>C (p.Gly827=)
2g.189052953A>TCA430323054COL5A2c.2619T>A (p.Gly873=)
c.1458T>A (p.Gly486=)
c.2481T>A (p.Gly827=)
2g.189052954C>ACA349871103COL5A2c.2618G>T (p.Gly873Val)
c.1457G>T (p.Gly486Val)
c.2480G>T (p.Gly827Val)
2g.189052954C=CA1315426048COL5A2c.2618G= (p.Gly873=)
c.1457G= (p.Gly486=)
c.2480G= (p.Gly827=)
2g.189052954C>GCA349871106COL5A2c.2618G>C (p.Gly873Ala)
c.1457G>C (p.Gly486Ala)
c.2480G>C (p.Gly827Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.189052954C>TCA349871108COL5A2c.2618G>A (p.Gly873Asp)
c.1457G>A (p.Gly486Asp)
c.2480G>A (p.Gly827Asp)
2g.189052955C>ACA349871111COL5A2c.2617G>T (p.Gly873Cys)
c.1456G>T (p.Gly486Cys)
c.2479G>T (p.Gly827Cys)
2g.189052955C>GCA349871113COL5A2c.2617G>C (p.Gly873Arg)
c.1456G>C (p.Gly486Arg)
c.2479G>C (p.Gly827Arg)
2g.189052955C>TCA349871115COL5A2c.2617G>A (p.Gly873Ser)
c.1456G>A (p.Gly486Ser)
c.2479G>A (p.Gly827Ser)
2g.189052956A>CCA430323057COL5A2c.2616T>G (p.Ala872=)
c.1455T>G (p.Ala485=)
c.2478T>G (p.Ala826=)
2g.189052956A>GCA430323055COL5A2c.2616T>C (p.Ala872=)
c.1455T>C (p.Ala485=)
c.2478T>C (p.Ala826=)
 gnomAD v4
2g.189052956A>TCA430323056COL5A2c.2616T>A (p.Ala872=)
c.1455T>A (p.Ala485=)
c.2478T>A (p.Ala826=)
2g.189052957G>ACA349871118COL5A2c.2615C>T (p.Ala872Val)
c.1454C>T (p.Ala485Val)
c.2477C>T (p.Ala826Val)
 gnomAD v4
2g.189052957G>CCA349871120COL5A2c.2615C>G (p.Ala872Gly)
c.1454C>G (p.Ala485Gly)
c.2477C>G (p.Ala826Gly)
2g.189052957G>TCA349871122COL5A2c.2615C>A (p.Ala872Asp)
c.1454C>A (p.Ala485Asp)
c.2477C>A (p.Ala826Asp)
2g.189052958C>ACA2022258COL5A2c.2614G>T (p.Ala872Ser)
c.1453G>T (p.Ala485Ser)
c.2476G>T (p.Ala826Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052958C=CA1315426049COL5A2c.2614G= (p.Ala872=)
c.1453G= (p.Ala485=)
c.2476G= (p.Ala826=)
2g.189052958C>GCA349871129COL5A2c.2614G>C (p.Ala872Pro)
c.1453G>C (p.Ala485Pro)
c.2476G>C (p.Ala826Pro)
2g.189052958C>TCA349871130COL5A2c.2614G>A (p.Ala872Thr)
c.1453G>A (p.Ala485Thr)
c.2476G>A (p.Ala826Thr)
 ClinVar
2g.189052959A>CCA349871131COL5A2c.2613T>G (p.Asp871Glu)
c.1452T>G (p.Asp484Glu)
c.2475T>G (p.Asp825Glu)
2g.189052959A>GCA430323061COL5A2c.2613T>C (p.Asp871=)
c.1452T>C (p.Asp484=)
c.2475T>C (p.Asp825=)
2g.189052959A>TCA349871132COL5A2c.2613T>A (p.Asp871Glu)
c.1452T>A (p.Asp484Glu)
c.2475T>A (p.Asp825Glu)
2g.189052960T>ACA349871134COL5A2c.2612A>T (p.Asp871Val)
c.1451A>T (p.Asp484Val)
c.2474A>T (p.Asp825Val)
 dbSNP
2g.189052960T>CCA349871136COL5A2c.2612A>G (p.Asp871Gly)
c.1451A>G (p.Asp484Gly)
c.2474A>G (p.Asp825Gly)
2g.189052960T>GCA349871138COL5A2c.2612A>C (p.Asp871Ala)
c.1451A>C (p.Asp484Ala)
c.2474A>C (p.Asp825Ala)
2g.189052960T=CA1315426050COL5A2c.2612A= (p.Asp871=)
c.1451A= (p.Asp484=)
c.2474A= (p.Asp825=)
2g.189052961C>ACA349871140COL5A2c.2611G>T (p.Asp871Tyr)
c.1450G>T (p.Asp484Tyr)
c.2473G>T (p.Asp825Tyr)
2g.189052961C>GCA349871142COL5A2c.2611G>C (p.Asp871His)
c.1450G>C (p.Asp484His)
c.2473G>C (p.Asp825His)
2g.189052961C>TCA349871144COL5A2c.2611G>A (p.Asp871Asn)
c.1450G>A (p.Asp484Asn)
c.2473G>A (p.Asp825Asn)
2g.189052962T>ACA430323066COL5A2c.2610A>T (p.Gly870=)
c.1449A>T (p.Gly483=)
c.2472A>T (p.Gly824=)
2g.189052962T>CCA430323064COL5A2c.2610A>G (p.Gly870=)
c.1449A>G (p.Gly483=)
c.2472A>G (p.Gly824=)
2g.189052962T>GCA430323067COL5A2c.2610A>C (p.Gly870=)
c.1449A>C (p.Gly483=)
c.2472A>C (p.Gly824=)
2g.189052963C>ACA349871149COL5A2c.2609G>T (p.Gly870Val)
c.1448G>T (p.Gly483Val)
c.2471G>T (p.Gly824Val)
2g.189052963C>GCA349871146COL5A2c.2609G>C (p.Gly870Ala)
c.1448G>C (p.Gly483Ala)
c.2471G>C (p.Gly824Ala)
2g.189052963C>TCA349871148COL5A2c.2609G>A (p.Gly870Glu)
c.1448G>A (p.Gly483Glu)
c.2471G>A (p.Gly824Glu)
2g.189052964C>ACA349871150COL5A2c.2608G>T (p.Gly870Ter)
c.1447G>T (p.Gly483Ter)
c.2470G>T (p.Gly824Ter)
2g.189052964C>GCA349871151COL5A2c.2608G>C (p.Gly870Arg)
c.1447G>C (p.Gly483Arg)
c.2470G>C (p.Gly824Arg)
2g.189052964C>TCA349871153COL5A2c.2608G>A (p.Gly870Arg)
c.1447G>A (p.Gly483Arg)
c.2470G>A (p.Gly824Arg)
 COSMIC
2g.189052965C>ACA349871156COL5A2c.2607G>T (p.Lys869Asn)
c.1446G>T (p.Lys482Asn)
c.2469G>T (p.Lys823Asn)
2g.189052965C>GCA349871157COL5A2c.2607G>C (p.Lys869Asn)
c.1446G>C (p.Lys482Asn)
c.2469G>C (p.Lys823Asn)
2g.189052965C>TCA430323068COL5A2c.2607G>A (p.Lys869=)
c.1446G>A (p.Lys482=)
c.2469G>A (p.Lys823=)
2g.189052966T>ACA349871160COL5A2c.2606A>T (p.Lys869Met)
c.1445A>T (p.Lys482Met)
c.2468A>T (p.Lys823Met)
2g.189052966T>CCA349871164COL5A2c.2606A>G (p.Lys869Arg)
c.1445A>G (p.Lys482Arg)
c.2468A>G (p.Lys823Arg)
 dbSNP
2g.189052966T>GCA349871162COL5A2c.2606A>C (p.Lys869Thr)
c.1445A>C (p.Lys482Thr)
c.2468A>C (p.Lys823Thr)
2g.189052966T=CA1315426051COL5A2c.2606A= (p.Lys869=)
c.1445A= (p.Lys482=)
c.2468A= (p.Lys823=)
2g.189052967T>ACA349871165COL5A2c.2605A>T (p.Lys869Ter)
c.1444A>T (p.Lys482Ter)
c.2467A>T (p.Lys823Ter)
2g.189052967T>CCA349871168COL5A2c.2605A>G (p.Lys869Glu)
c.1444A>G (p.Lys482Glu)
c.2467A>G (p.Lys823Glu)
 gnomAD v4
2g.189052967T>GCA349871170COL5A2c.2605A>C (p.Lys869Gln)
c.1444A>C (p.Lys482Gln)
c.2467A>C (p.Lys823Gln)
2g.189052968C>ACA349871171COL5A2c.2604G>T (p.Gln868His)
c.1443G>T (p.Gln481His)
c.2466G>T (p.Gln822His)
2g.189052968C>GCA349871173COL5A2c.2604G>C (p.Gln868His)
c.1443G>C (p.Gln481His)
c.2466G>C (p.Gln822His)
2g.189052968C>TCA430323072COL5A2c.2604G>A (p.Gln868=)
c.1443G>A (p.Gln481=)
c.2466G>A (p.Gln822=)
2g.189052969T>ACA349871175COL5A2c.2603A>T (p.Gln868Leu)
c.1442A>T (p.Gln481Leu)
c.2465A>T (p.Gln822Leu)
 gnomAD v4
2g.189052969T>CCA349871177COL5A2c.2603A>G (p.Gln868Arg)
c.1442A>G (p.Gln481Arg)
c.2465A>G (p.Gln822Arg)
2g.189052969T>GCA349871179COL5A2c.2603A>C (p.Gln868Pro)
c.1442A>C (p.Gln481Pro)
c.2465A>C (p.Gln822Pro)
2g.189052970G>ACA349871182COL5A2c.2602C>T (p.Gln868Ter)
c.1441C>T (p.Gln481Ter)
c.2464C>T (p.Gln822Ter)
2g.189052970G>CCA349871184COL5A2c.2602C>G (p.Gln868Glu)
c.1441C>G (p.Gln481Glu)
c.2464C>G (p.Gln822Glu)
2g.189052970G=CA1315426052COL5A2c.2602C= (p.Gln868=)
c.1441C= (p.Gln481=)
c.2464C= (p.Gln822=)
2g.189052970G>TCA349871186COL5A2c.2602C>A (p.Gln868Lys)
c.1441C>A (p.Gln481Lys)
c.2464C>A (p.Gln822Lys)
 ClinVar dbSNP
2g.189052971T>ACA430323073COL5A2c.2601A>T (p.Gly867=)
c.1440A>T (p.Gly480=)
c.2463A>T (p.Gly821=)
 COSMIC
2g.189052971T>CCA430323075COL5A2c.2601A>G (p.Gly867=)
c.1440A>G (p.Gly480=)
c.2463A>G (p.Gly821=)
2g.189052971T>GCA430323076COL5A2c.2601A>C (p.Gly867=)
c.1440A>C (p.Gly480=)
c.2463A>C (p.Gly821=)
2g.189052972C>ACA349871188COL5A2c.2600G>T (p.Gly867Val)
c.1439G>T (p.Gly480Val)
c.2462G>T (p.Gly821Val)
2g.189052972C=CA1315426053COL5A2c.2600G= (p.Gly867=)
c.1439G= (p.Gly480=)
c.2462G= (p.Gly821=)
2g.189052972C>GCA2022259COL5A2c.2600G>C (p.Gly867Ala)
c.1439G>C (p.Gly480Ala)
c.2462G>C (p.Gly821Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052972C>TCA349871190COL5A2c.2600G>A (p.Gly867Glu)
c.1439G>A (p.Gly480Glu)
c.2462G>A (p.Gly821Glu)
2g.189052973C>ACA349871194COL5A2c.2599G>T (p.Gly867Ter)
c.1438G>T (p.Gly480Ter)
c.2461G>T (p.Gly821Ter)
 COSMIC
2g.189052973C>GCA349871197COL5A2c.2599G>C (p.Gly867Arg)
c.1438G>C (p.Gly480Arg)
c.2461G>C (p.Gly821Arg)
2g.189052973C>TCA349871195COL5A2c.2599G>A (p.Gly867Arg)
c.1438G>A (p.Gly480Arg)
c.2461G>A (p.Gly821Arg)
2g.189052974T>ACA430323079COL5A2c.2598A>T (p.Pro866=)
c.1437A>T (p.Pro479=)
c.2460A>T (p.Pro820=)
2g.189052974T>CCA2022260COL5A2c.2598A>G (p.Pro866=)
c.1437A>G (p.Pro479=)
c.2460A>G (p.Pro820=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189052974T>GCA430323080COL5A2c.2598A>C (p.Pro866=)
c.1437A>C (p.Pro479=)
c.2460A>C (p.Pro820=)
2g.189052974T=CA1315426054COL5A2c.2598A= (p.Pro866=)
c.1437A= (p.Pro479=)
c.2460A= (p.Pro820=)
2g.189052975G>ACA2022261COL5A2c.2597C>T (p.Pro866Leu)
c.1436C>T (p.Pro479Leu)
c.2459C>T (p.Pro820Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189052975G>CCA349871200COL5A2c.2597C>G (p.Pro866Arg)
c.1436C>G (p.Pro479Arg)
c.2459C>G (p.Pro820Arg)
2g.189052975G=CA1315426055COL5A2c.2597C= (p.Pro866=)
c.1436C= (p.Pro479=)
c.2459C= (p.Pro820=)
2g.189052975G>TCA349871203COL5A2c.2597C>A (p.Pro866Gln)
c.1436C>A (p.Pro479Gln)
c.2459C>A (p.Pro820Gln)
2g.189052976G>ACA349871204COL5A2c.2596C>T (p.Pro866Ser)
c.1435C>T (p.Pro479Ser)
c.2458C>T (p.Pro820Ser)
2g.189052976G>CCA349871206COL5A2c.2596C>G (p.Pro866Ala)
c.1435C>G (p.Pro479Ala)
c.2458C>G (p.Pro820Ala)
 dbSNP
2g.189052976G=CA1315426056COL5A2c.2596C= (p.Pro866=)
c.1435C= (p.Pro479=)
c.2458C= (p.Pro820=)
2g.189052976G>TCA349871208COL5A2c.2596C>A (p.Pro866Thr)
c.1435C>A (p.Pro479Thr)
c.2458C>A (p.Pro820Thr)
2g.189052977C>ACA349871211COL5A2c.2595G>T (p.Glu865Asp)
c.1434G>T (p.Glu478Asp)
c.2457G>T (p.Glu819Asp)
2g.189052977C=CA1315426057COL5A2c.2595G= (p.Glu865=)
c.1434G= (p.Glu478=)
c.2457G= (p.Glu819=)
2g.189052977C>GCA2022262COL5A2c.2595G>C (p.Glu865Asp)
c.1434G>C (p.Glu478Asp)
c.2457G>C (p.Glu819Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052977C>TCA430323082COL5A2c.2595G>A (p.Glu865=)
c.1434G>A (p.Glu478=)
c.2457G>A (p.Glu819=)
 dbSNP gnomAD v2 gnomAD v4
2g.189052978T>ACA349871215COL5A2c.2594A>T (p.Glu865Val)
c.1433A>T (p.Glu478Val)
c.2456A>T (p.Glu819Val)
2g.189052978T>CCA349871216COL5A2c.2594A>G (p.Glu865Gly)
c.1433A>G (p.Glu478Gly)
c.2456A>G (p.Glu819Gly)
2g.189052978T>GCA349871218COL5A2c.2594A>C (p.Glu865Ala)
c.1433A>C (p.Glu478Ala)
c.2456A>C (p.Glu819Ala)
2g.189052979C>ACA349871221COL5A2c.2593G>T (p.Glu865Ter)
c.1432G>T (p.Glu478Ter)
c.2455G>T (p.Glu819Ter)
2g.189052979C>GCA349871230COL5A2c.2593G>C (p.Glu865Gln)
c.1432G>C (p.Glu478Gln)
c.2455G>C (p.Glu819Gln)
2g.189052979C>TCA349871223COL5A2c.2593G>A (p.Glu865Lys)
c.1432G>A (p.Glu478Lys)
c.2455G>A (p.Glu819Lys)
2g.189052980T>ACA430323083COL5A2c.2592A>T (p.Gly864=)
c.1431A>T (p.Gly477=)
c.2454A>T (p.Gly818=)
2g.189052980T>CCA430323084COL5A2c.2592A>G (p.Gly864=)
c.1431A>G (p.Gly477=)
c.2454A>G (p.Gly818=)
2g.189052980T>GCA430323085COL5A2c.2592A>C (p.Gly864=)
c.1431A>C (p.Gly477=)
c.2454A>C (p.Gly818=)
2g.189052981C>ACA349871233COL5A2c.2591G>T (p.Gly864Val)
c.1430G>T (p.Gly477Val)
c.2453G>T (p.Gly818Val)
2g.189052981C>GCA349871234COL5A2c.2591G>C (p.Gly864Ala)
c.1430G>C (p.Gly477Ala)
c.2453G>C (p.Gly818Ala)
2g.189052981C>TCA349871235COL5A2c.2591G>A (p.Gly864Glu)
c.1430G>A (p.Gly477Glu)
c.2453G>A (p.Gly818Glu)
2g.189052982C>ACA349871236COL5A2c.2590G>T (p.Gly864Ter)
c.1429G>T (p.Gly477Ter)
c.2452G>T (p.Gly818Ter)
2g.189052982C>GCA349871237COL5A2c.2590G>C (p.Gly864Arg)
c.1429G>C (p.Gly477Arg)
c.2452G>C (p.Gly818Arg)
2g.189052982C>TCA349871239COL5A2c.2590G>A (p.Gly864Arg)
c.1429G>A (p.Gly477Arg)
c.2452G>A (p.Gly818Arg)
2g.189052983A=CA1315426058COL5A2c.2589T= (p.Pro863=)
c.1428T= (p.Pro476=)
c.2451T= (p.Pro817=)
2g.189052983A>CCA430323087COL5A2c.2589T>G (p.Pro863=)
c.1428T>G (p.Pro476=)
c.2451T>G (p.Pro817=)
 dbSNP
2g.189052983A>GCA430323088COL5A2c.2589T>C (p.Pro863=)
c.1428T>C (p.Pro476=)
c.2451T>C (p.Pro817=)
2g.189052983A>TCA430323089COL5A2c.2589T>A (p.Pro863=)
c.1428T>A (p.Pro476=)
c.2451T>A (p.Pro817=)
2g.189052984G>ACA349871242COL5A2c.2588C>T (p.Pro863Leu)
c.1427C>T (p.Pro476Leu)
c.2450C>T (p.Pro817Leu)
2g.189052984G>CCA349871244COL5A2c.2588C>G (p.Pro863Arg)
c.1427C>G (p.Pro476Arg)
c.2450C>G (p.Pro817Arg)
2g.189052984G>TCA349871246COL5A2c.2588C>A (p.Pro863His)
c.1427C>A (p.Pro476His)
c.2450C>A (p.Pro817His)
 gnomAD v4

Number of alleles fetched