Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237380905A=CA1337627182COL6A3c.1279+10T= (n.1279+10T=)
c.1897+10T= (n.1897+10T=)
c.676+10T= (n.676+10T=)
c.92-3561T= (n.92-3561T=)
2g.237380905A>CCA1337627183COL6A3c.1279+10T>G (n.1279+10T>G)
c.1897+10T>G (n.1897+10T>G)
c.676+10T>G (n.676+10T>G)
c.92-3561T>G (n.92-3561T>G)
 dbSNP
2g.237380909C=CA1337627184COL6A3c.1279+6G= (n.1279+6G=)
c.1897+6G= (n.1897+6G=)
c.676+6G= (n.676+6G=)
c.92-3565G= (n.92-3565G=)
2g.237380909C>TCA540448806COL6A3c.1279+6G>A (n.1279+6G>A)
c.1897+6G>A (n.1897+6G>A)
c.676+6G>A (n.676+6G>A)
c.92-3565G>A (n.92-3565G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237380910C>ACA2577290180COL6A3c.1279+5G>T (n.1279+5G>T)
c.1897+5G>T (n.1897+5G>T)
c.676+5G>T (n.676+5G>T)
c.92-3566G>T (n.92-3566G>T)
2g.237380910C>TCA2663799115COL6A3c.1279+5G>A (n.1279+5G>A)
c.1897+5G>A (n.1897+5G>A)
c.676+5G>A (n.676+5G>A)
c.92-3566G>A (n.92-3566G>A)
 gnomAD v4
2g.237380911delCA2577290181COL6A3c.1279+4del (n.1279+4del)
c.1897+4del (n.1897+4del)
c.676+4del (n.676+4del)
c.92-3567del (n.92-3567del)
2g.237380911A>GCA2663799116COL6A3c.1279+4T>C (n.1279+4T>C)
c.1897+4T>C (n.1897+4T>C)
c.676+4T>C (n.676+4T>C)
c.92-3567T>C (n.92-3567T>C)
 gnomAD v4
2g.237380912T>CCA2189533COL6A3c.1279+3A>G (n.1279+3A>G)
c.1897+3A>G (n.1897+3A>G)
c.676+3A>G (n.676+3A>G)
c.92-3568A>G (n.92-3568A>G)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.237380912T=CA1337627185COL6A3c.1279+3A= (n.1279+3A=)
c.1897+3A= (n.1897+3A=)
c.676+3A= (n.676+3A=)
c.92-3568A= (n.92-3568A=)
2g.237380913A>CCA351215354COL6A3c.1279+2T>G (n.1279+2T>G)
c.1897+2T>G (n.1897+2T>G)
c.676+2T>G (n.676+2T>G)
c.92-3569T>G (n.92-3569T>G)
2g.237380913A>GCA351215356COL6A3c.1279+2T>C (n.1279+2T>C)
c.1897+2T>C (n.1897+2T>C)
c.676+2T>C (n.676+2T>C)
c.92-3569T>C (n.92-3569T>C)
2g.237380913A>TCA351215358COL6A3c.1279+2T>A (n.1279+2T>A)
c.1897+2T>A (n.1897+2T>A)
c.676+2T>A (n.676+2T>A)
c.92-3569T>A (n.92-3569T>A)
2g.237380914C>ACA351215360COL6A3c.1279+1G>T (n.1279+1G>T)
c.1897+1G>T (n.1897+1G>T)
c.676+1G>T (n.676+1G>T)
c.92-3570G>T (n.92-3570G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237380914C=CA1337627186COL6A3c.1279+1G= (n.1279+1G=)
c.1897+1G= (n.1897+1G=)
c.676+1G= (n.676+1G=)
c.92-3570G= (n.92-3570G=)
2g.237380914C>GCA351215362COL6A3c.1279+1G>C (n.1279+1G>C)
c.1897+1G>C (n.1897+1G>C)
c.676+1G>C (n.676+1G>C)
c.92-3570G>C (n.92-3570G>C)
2g.237380914C>TCA351215364COL6A3c.1279+1G>A (n.1279+1G>A)
c.1897+1G>A (n.1897+1G>A)
c.676+1G>A (n.676+1G>A)
c.92-3570G>A (n.92-3570G>A)
 gnomAD v4
2g.237380915delCA2663799117COL6A3c.1279+1del
c.1897+1del
c.676+1del
c.92-3570del (n.92-3570del)
 gnomAD v4
2g.237380915C>ACA351215371COL6A3c.1279G>T (p.Val427Phe)
c.1897G>T (p.Val633Phe)
c.676G>T (p.Glu226Ter)
c.676G>T (p.Val226Phe)
c.1897G>T (p.Glu633Ter)
c.92-3571G>T (n.92-3571G>T)
2g.237380915C>GCA351215368COL6A3c.1279G>C (p.Val427Leu)
c.1897G>C (p.Val633Leu)
c.676G>C (p.Glu226Gln)
c.676G>C (p.Val226Leu)
c.1897G>C (p.Glu633Gln)
c.92-3571G>C (n.92-3571G>C)
2g.237380915C>TCA351215366COL6A3c.1279G>A (p.Val427Ile)
c.1897G>A (p.Val633Ile)
c.676G>A (p.Glu226Lys)
c.676G>A (p.Val226Ile)
c.1897G>A (p.Glu633Lys)
c.92-3571G>A (n.92-3571G>A)
 gnomAD v4
2g.237380916T>ACA351215373COL6A3c.1278A>T (p.Glu426Asp)
c.1896A>T (p.Glu632Asp)
c.675A>T (p.Glu225Asp)
c.92-3572A>T (n.92-3572A>T)
2g.237380916T>CCA431674642COL6A3c.1278A>G (p.Glu426=)
c.1896A>G (p.Glu632=)
c.675A>G (p.Glu225=)
c.92-3572A>G (n.92-3572A>G)
2g.237380916T>GCA351215376COL6A3c.1278A>C (p.Glu426Asp)
c.1896A>C (p.Glu632Asp)
c.675A>C (p.Glu225Asp)
c.92-3572A>C (n.92-3572A>C)
2g.237380917T>ACA351215378COL6A3c.1277A>T (p.Glu426Val)
c.1895A>T (p.Glu632Val)
c.674A>T (p.Glu225Val)
c.92-3573A>T (n.92-3573A>T)
2g.237380917T>CCA351215380COL6A3c.1277A>G (p.Glu426Gly)
c.1895A>G (p.Glu632Gly)
c.674A>G (p.Glu225Gly)
c.92-3573A>G (n.92-3573A>G)
2g.237380917T>GCA351215383COL6A3c.1277A>C (p.Glu426Ala)
c.1895A>C (p.Glu632Ala)
c.674A>C (p.Glu225Ala)
c.92-3573A>C (n.92-3573A>C)
2g.237380918C>ACA351215385COL6A3c.1276G>T (p.Glu426Ter)
c.1894G>T (p.Glu632Ter)
c.673G>T (p.Glu225Ter)
c.92-3574G>T (n.92-3574G>T)
2g.237380918C>GCA351215387COL6A3c.1276G>C (p.Glu426Gln)
c.1894G>C (p.Glu632Gln)
c.673G>C (p.Glu225Gln)
c.92-3574G>C (n.92-3574G>C)
2g.237380918C>TCA351215389COL6A3c.1276G>A (p.Glu426Lys)
c.1894G>A (p.Glu632Lys)
c.673G>A (p.Glu225Lys)
c.92-3574G>A (n.92-3574G>A)
2g.237380919A>CCA431674643COL6A3c.1275T>G (p.Pro425=)
c.1893T>G (p.Pro631=)
c.672T>G (p.Pro224=)
c.92-3575T>G (n.92-3575T>G)
2g.237380919A>GCA431674644COL6A3c.1275T>C (p.Pro425=)
c.1893T>C (p.Pro631=)
c.672T>C (p.Pro224=)
c.92-3575T>C (n.92-3575T>C)
2g.237380919A>TCA431674645COL6A3c.1275T>A (p.Pro425=)
c.1893T>A (p.Pro631=)
c.672T>A (p.Pro224=)
c.92-3575T>A (n.92-3575T>A)
2g.237380920G>ACA351215392COL6A3c.1274C>T (p.Pro425Leu)
c.1892C>T (p.Pro631Leu)
c.671C>T (p.Pro224Leu)
c.92-3576C>T (n.92-3576C>T)
2g.237380920G>CCA351215394COL6A3c.1274C>G (p.Pro425Arg)
c.1892C>G (p.Pro631Arg)
c.671C>G (p.Pro224Arg)
c.92-3576C>G (n.92-3576C>G)
2g.237380920G>TCA351215395COL6A3c.1274C>A (p.Pro425His)
c.1892C>A (p.Pro631His)
c.671C>A (p.Pro224His)
c.92-3576C>A (n.92-3576C>A)
2g.237380921G>ACA351215397COL6A3c.1273C>T (p.Pro425Ser)
c.1891C>T (p.Pro631Ser)
c.670C>T (p.Pro224Ser)
c.92-3577C>T (n.92-3577C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.237380921G>CCA351215399COL6A3c.1273C>G (p.Pro425Ala)
c.1891C>G (p.Pro631Ala)
c.670C>G (p.Pro224Ala)
c.92-3577C>G (n.92-3577C>G)
2g.237380921G=CA1337627187COL6A3c.1273C= (p.Pro425=)
c.1891C= (p.Pro631=)
c.670C= (p.Pro224=)
c.92-3577C= (n.92-3577C=)
2g.237380921G>TCA351215401COL6A3c.1273C>A (p.Pro425Thr)
c.1891C>A (p.Pro631Thr)
c.670C>A (p.Pro224Thr)
c.92-3577C>A (n.92-3577C>A)
2g.237380922G>ACA431674647COL6A3c.1272C>T (p.Thr424=)
c.1890C>T (p.Thr630=)
c.669C>T (p.Thr223=)
c.92-3578C>T (n.92-3578C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.237380922G>CCA431674649COL6A3c.1272C>G (p.Thr424=)
c.1890C>G (p.Thr630=)
c.669C>G (p.Thr223=)
c.92-3578C>G (n.92-3578C>G)
2g.237380922G=CA1337627188COL6A3c.1272C= (p.Thr424=)
c.1890C= (p.Thr630=)
c.669C= (p.Thr223=)
c.92-3578C= (n.92-3578C=)
2g.237380922G>TCA431674648COL6A3c.1272C>A (p.Thr424=)
c.1890C>A (p.Thr630=)
c.669C>A (p.Thr223=)
c.92-3578C>A (n.92-3578C>A)
2g.237380923G>ACA351215405COL6A3c.1271C>T (p.Thr424Ile)
c.1889C>T (p.Thr630Ile)
c.668C>T (p.Thr223Ile)
c.92-3579C>T (n.92-3579C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.237380923G>CCA351215410COL6A3c.1271C>G (p.Thr424Ser)
c.1889C>G (p.Thr630Ser)
c.668C>G (p.Thr223Ser)
c.92-3579C>G (n.92-3579C>G)
 gnomAD v4
2g.237380923G=CA1337627189COL6A3c.1271C= (p.Thr424=)
c.1889C= (p.Thr630=)
c.668C= (p.Thr223=)
c.92-3579C= (n.92-3579C=)
2g.237380923G>TCA351215403COL6A3c.1271C>A (p.Thr424Asn)
c.1889C>A (p.Thr630Asn)
c.668C>A (p.Thr223Asn)
c.92-3579C>A (n.92-3579C>A)
2g.237380924T>ACA351215412COL6A3c.1270A>T (p.Thr424Ser)
c.1888A>T (p.Thr630Ser)
c.667A>T (p.Thr223Ser)
c.92-3580A>T (n.92-3580A>T)
2g.237380924T>CCA351215414COL6A3c.1270A>G (p.Thr424Ala)
c.1888A>G (p.Thr630Ala)
c.667A>G (p.Thr223Ala)
c.92-3580A>G (n.92-3580A>G)
2g.237380924T>GCA351215416COL6A3c.1270A>C (p.Thr424Pro)
c.1888A>C (p.Thr630Pro)
c.667A>C (p.Thr223Pro)
c.92-3580A>C (n.92-3580A>C)
2g.237380925T>ACA431674650COL6A3c.1269A>T (p.Gly423=)
c.1887A>T (p.Gly629=)
c.666A>T (p.Gly222=)
c.92-3581A>T (n.92-3581A>T)
2g.237380925T>CCA431674652COL6A3c.1269A>G (p.Gly423=)
c.1887A>G (p.Gly629=)
c.666A>G (p.Gly222=)
c.92-3581A>G (n.92-3581A>G)
 gnomAD v4
2g.237380925T>GCA431674653COL6A3c.1269A>C (p.Gly423=)
c.1887A>C (p.Gly629=)
c.666A>C (p.Gly222=)
c.92-3581A>C (n.92-3581A>C)
2g.237380926C>ACA351215418COL6A3c.1268G>T (p.Gly423Val)
c.1886G>T (p.Gly629Val)
c.665G>T (p.Gly222Val)
c.92-3582G>T (n.92-3582G>T)
2g.237380926C=CA1337627190COL6A3c.1268G= (p.Gly423=)
c.1886G= (p.Gly629=)
c.665G= (p.Gly222=)
c.92-3582G= (n.92-3582G=)
2g.237380926C>GCA351215423COL6A3c.1268G>C (p.Gly423Ala)
c.1886G>C (p.Gly629Ala)
c.665G>C (p.Gly222Ala)
c.92-3582G>C (n.92-3582G>C)
2g.237380926C>TCA2189534COL6A3c.1268G>A (p.Gly423Glu)
c.1886G>A (p.Gly629Glu)
c.665G>A (p.Gly222Glu)
c.92-3582G>A (n.92-3582G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380927C>ACA351215426COL6A3c.1267G>T (p.Gly423Ter)
c.1885G>T (p.Gly629Ter)
c.664G>T (p.Gly222Ter)
c.92-3583G>T (n.92-3583G>T)
2g.237380927C>GCA351215427COL6A3c.1267G>C (p.Gly423Arg)
c.1885G>C (p.Gly629Arg)
c.664G>C (p.Gly222Arg)
c.92-3583G>C (n.92-3583G>C)
2g.237380927C>TCA351215428COL6A3c.1267G>A (p.Gly423Arg)
c.1885G>A (p.Gly629Arg)
c.664G>A (p.Gly222Arg)
c.92-3583G>A (n.92-3583G>A)
2g.237380928A>CCA431674654COL6A3c.1266T>G (p.Ser422=)
c.1884T>G (p.Ser628=)
c.663T>G (p.Ser221=)
c.92-3584T>G (n.92-3584T>G)
2g.237380928A>GCA431674655COL6A3c.1266T>C (p.Ser422=)
c.1884T>C (p.Ser628=)
c.663T>C (p.Ser221=)
c.92-3584T>C (n.92-3584T>C)
2g.237380928A>TCA431674656COL6A3c.1266T>A (p.Ser422=)
c.1884T>A (p.Ser628=)
c.663T>A (p.Ser221=)
c.92-3584T>A (n.92-3584T>A)
2g.237380929G>ACA351215431COL6A3c.1265C>T (p.Ser422Phe)
c.1883C>T (p.Ser628Phe)
c.662C>T (p.Ser221Phe)
c.92-3585C>T (n.92-3585C>T)
2g.237380929G>CCA351215432COL6A3c.1265C>G (p.Ser422Cys)
c.1883C>G (p.Ser628Cys)
c.662C>G (p.Ser221Cys)
c.92-3585C>G (n.92-3585C>G)
2g.237380929G>TCA351215434COL6A3c.1265C>A (p.Ser422Tyr)
c.1883C>A (p.Ser628Tyr)
c.662C>A (p.Ser221Tyr)
c.92-3585C>A (n.92-3585C>A)
2g.237380930A>CCA351215439COL6A3c.1264T>G (p.Ser422Ala)
c.1882T>G (p.Ser628Ala)
c.661T>G (p.Ser221Ala)
c.92-3586T>G (n.92-3586T>G)
2g.237380930A>GCA351215437COL6A3c.1264T>C (p.Ser422Pro)
c.1882T>C (p.Ser628Pro)
c.661T>C (p.Ser221Pro)
c.92-3586T>C (n.92-3586T>C)
2g.237380930A>TCA351215436COL6A3c.1264T>A (p.Ser422Thr)
c.1882T>A (p.Ser628Thr)
c.661T>A (p.Ser221Thr)
c.92-3586T>A (n.92-3586T>A)
2g.237380931G>ACA2189535COL6A3c.1263C>T (p.Leu421=)
c.1881C>T (p.Leu627=)
c.660C>T (p.Leu220=)
c.92-3587C>T (n.92-3587C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380931G>CCA431674657COL6A3c.1263C>G (p.Leu421=)
c.1881C>G (p.Leu627=)
c.660C>G (p.Leu220=)
c.92-3587C>G (n.92-3587C>G)
2g.237380931G=CA1337627191COL6A3c.1263C= (p.Leu421=)
c.1881C= (p.Leu627=)
c.660C= (p.Leu220=)
c.92-3587C= (n.92-3587C=)
2g.237380931G>TCA431674659COL6A3c.1263C>A (p.Leu421=)
c.1881C>A (p.Leu627=)
c.660C>A (p.Leu220=)
c.92-3587C>A (n.92-3587C>A)
 gnomAD v4
2g.237380932A>CCA351215442COL6A3c.1262T>G (p.Leu421Arg)
c.1880T>G (p.Leu627Arg)
c.659T>G (p.Leu220Arg)
c.92-3588T>G (n.92-3588T>G)
2g.237380932A>GCA351215444COL6A3c.1262T>C (p.Leu421Pro)
c.1880T>C (p.Leu627Pro)
c.659T>C (p.Leu220Pro)
c.92-3588T>C (n.92-3588T>C)
2g.237380932A>TCA351215446COL6A3c.1262T>A (p.Leu421His)
c.1880T>A (p.Leu627His)
c.659T>A (p.Leu220His)
c.92-3588T>A (n.92-3588T>A)
2g.237380933G>ACA351215448COL6A3c.1261C>T (p.Leu421Phe)
c.1879C>T (p.Leu627Phe)
c.658C>T (p.Leu220Phe)
c.92-3589C>T (n.92-3589C>T)
2g.237380933G>CCA351215450COL6A3c.1261C>G (p.Leu421Val)
c.1879C>G (p.Leu627Val)
c.658C>G (p.Leu220Val)
c.92-3589C>G (n.92-3589C>G)
2g.237380933G>TCA351215451COL6A3c.1261C>A (p.Leu421Ile)
c.1879C>A (p.Leu627Ile)
c.658C>A (p.Leu220Ile)
c.92-3589C>A (n.92-3589C>A)
2g.237380934G>ACA431674660COL6A3c.1260C>T (p.Thr420=)
c.1878C>T (p.Thr626=)
c.657C>T (p.Thr219=)
c.92-3590C>T (n.92-3590C>T)
2g.237380934G>CCA431674663COL6A3c.1260C>G (p.Thr420=)
c.1878C>G (p.Thr626=)
c.657C>G (p.Thr219=)
c.92-3590C>G (n.92-3590C>G)
2g.237380934G>TCA431674661COL6A3c.1260C>A (p.Thr420=)
c.1878C>A (p.Thr626=)
c.657C>A (p.Thr219=)
c.92-3590C>A (n.92-3590C>A)
2g.237380935G>ACA351215454COL6A3c.1259C>T (p.Thr420Ile)
c.1877C>T (p.Thr626Ile)
c.656C>T (p.Thr219Ile)
c.92-3591C>T (n.92-3591C>T)
 gnomAD v4
2g.237380935G>CCA351215455COL6A3c.1259C>G (p.Thr420Ser)
c.1877C>G (p.Thr626Ser)
c.656C>G (p.Thr219Ser)
c.92-3591C>G (n.92-3591C>G)
2g.237380935G>TCA351215457COL6A3c.1259C>A (p.Thr420Asn)
c.1877C>A (p.Thr626Asn)
c.656C>A (p.Thr219Asn)
c.92-3591C>A (n.92-3591C>A)
2g.237380936T>ACA351215460COL6A3c.1258A>T (p.Thr420Ser)
c.1876A>T (p.Thr626Ser)
c.655A>T (p.Thr219Ser)
c.92-3592A>T (n.92-3592A>T)
2g.237380936T>CCA351215461COL6A3c.1258A>G (p.Thr420Ala)
c.1876A>G (p.Thr626Ala)
c.655A>G (p.Thr219Ala)
c.92-3592A>G (n.92-3592A>G)
2g.237380936T>GCA351215462COL6A3c.1258A>C (p.Thr420Pro)
c.1876A>C (p.Thr626Pro)
c.655A>C (p.Thr219Pro)
c.92-3592A>C (n.92-3592A>C)
2g.237380937C>ACA351215464COL6A3c.1257G>T (p.Arg419Ser)
c.1875G>T (p.Arg625Ser)
c.654G>T (p.Arg218Ser)
c.92-3593G>T (n.92-3593G>T)
2g.237380937C=CA1337627192COL6A3c.1257G= (p.Arg419=)
c.1875G= (p.Arg625=)
c.654G= (p.Arg218=)
c.92-3593G= (n.92-3593G=)
2g.237380937C>GCA351215466COL6A3c.1257G>C (p.Arg419Ser)
c.1875G>C (p.Arg625Ser)
c.654G>C (p.Arg218Ser)
c.92-3593G>C (n.92-3593G>C)
2g.237380937C>TCA431674665COL6A3c.1257G>A (p.Arg419=)
c.1875G>A (p.Arg625=)
c.654G>A (p.Arg218=)
c.92-3593G>A (n.92-3593G>A)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.237380938C>ACA351215469COL6A3c.1256G>T (p.Arg419Met)
c.1874G>T (p.Arg625Met)
c.653G>T (p.Arg218Met)
c.92-3594G>T (n.92-3594G>T)
2g.237380938C=CA1337627193COL6A3c.1256G= (p.Arg419=)
c.1874G= (p.Arg625=)
c.653G= (p.Arg218=)
c.92-3594G= (n.92-3594G=)
2g.237380938C>GCA2189536COL6A3c.1256G>C (p.Arg419Thr)
c.1874G>C (p.Arg625Thr)
c.653G>C (p.Arg218Thr)
c.92-3594G>C (n.92-3594G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380938C>TCA351215470COL6A3c.1256G>A (p.Arg419Lys)
c.1874G>A (p.Arg625Lys)
c.653G>A (p.Arg218Lys)
c.92-3594G>A (n.92-3594G>A)
2g.237380939T>ACA351215473COL6A3c.1255A>T (p.Arg419Trp)
c.1873A>T (p.Arg625Trp)
c.652A>T (p.Arg218Trp)
c.92-3595A>T (n.92-3595A>T)
2g.237380939T>CCA351215475COL6A3c.1255A>G (p.Arg419Gly)
c.1873A>G (p.Arg625Gly)
c.652A>G (p.Arg218Gly)
c.92-3595A>G (n.92-3595A>G)
2g.237380939T>GCA431674668COL6A3c.1255A>C (p.Arg419=)
c.1873A>C (p.Arg625=)
c.652A>C (p.Arg218=)
c.92-3595A>C (n.92-3595A>C)
2g.237380940G>ACA431674669COL6A3c.1254C>T (p.Leu418=)
c.1872C>T (p.Leu624=)
c.651C>T (p.Leu217=)
c.92-3596C>T (n.92-3596C>T)
 gnomAD v4
2g.237380940G>CCA431674670COL6A3c.1254C>G (p.Leu418=)
c.1872C>G (p.Leu624=)
c.651C>G (p.Leu217=)
c.92-3596C>G (n.92-3596C>G)
 gnomAD v4
2g.237380940G=CA1337627194COL6A3c.1254C= (p.Leu418=)
c.1872C= (p.Leu624=)
c.651C= (p.Leu217=)
c.92-3596C= (n.92-3596C=)
2g.237380940G>TCA10606233COL6A3c.1254C>A (p.Leu418=)
c.1872C>A (p.Leu624=)
c.651C>A (p.Leu217=)
c.92-3596C>A (n.92-3596C>A)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.237380941A>CCA351215477COL6A3c.1253T>G (p.Leu418Arg)
c.1871T>G (p.Leu624Arg)
c.650T>G (p.Leu217Arg)
c.92-3597T>G (n.92-3597T>G)
2g.237380941A>GCA351215479COL6A3c.1253T>C (p.Leu418Pro)
c.1871T>C (p.Leu624Pro)
c.650T>C (p.Leu217Pro)
c.92-3597T>C (n.92-3597T>C)
2g.237380941A>TCA351215481COL6A3c.1253T>A (p.Leu418His)
c.1871T>A (p.Leu624His)
c.650T>A (p.Leu217His)
c.92-3597T>A (n.92-3597T>A)
2g.237380942G>ACA351215483COL6A3c.1252C>T (p.Leu418Phe)
c.1870C>T (p.Leu624Phe)
c.649C>T (p.Leu217Phe)
c.92-3598C>T (n.92-3598C>T)
 COSMIC COSMIC
2g.237380942G>CCA351215485COL6A3c.1252C>G (p.Leu418Val)
c.1870C>G (p.Leu624Val)
c.649C>G (p.Leu217Val)
c.92-3598C>G (n.92-3598C>G)
2g.237380942G>TCA351215487COL6A3c.1252C>A (p.Leu418Ile)
c.1870C>A (p.Leu624Ile)
c.649C>A (p.Leu217Ile)
c.92-3598C>A (n.92-3598C>A)
2g.237380943A>CCA431674671COL6A3c.1251T>G (p.Pro417=)
c.1869T>G (p.Pro623=)
c.648T>G (p.Pro216=)
c.92-3599T>G (n.92-3599T>G)
2g.237380943A>GCA431674672COL6A3c.1251T>C (p.Pro417=)
c.1869T>C (p.Pro623=)
c.648T>C (p.Pro216=)
c.92-3599T>C (n.92-3599T>C)
2g.237380943A>TCA431674674COL6A3c.1251T>A (p.Pro417=)
c.1869T>A (p.Pro623=)
c.648T>A (p.Pro216=)
c.92-3599T>A (n.92-3599T>A)
2g.237380944G>ACA351215490COL6A3c.1250C>T (p.Pro417Leu)
c.1868C>T (p.Pro623Leu)
c.647C>T (p.Pro216Leu)
c.92-3600C>T (n.92-3600C>T)
2g.237380944G>CCA351215492COL6A3c.1250C>G (p.Pro417Arg)
c.1868C>G (p.Pro623Arg)
c.647C>G (p.Pro216Arg)
c.92-3600C>G (n.92-3600C>G)
 ClinVar gnomAD v4 COSMIC COSMIC
2g.237380944G>TCA351215493COL6A3c.1250C>A (p.Pro417His)
c.1868C>A (p.Pro623His)
c.647C>A (p.Pro216His)
c.92-3600C>A (n.92-3600C>A)
2g.237380945G>ACA2189537COL6A3c.1249C>T (p.Pro417Ser)
c.1867C>T (p.Pro623Ser)
c.646C>T (p.Pro216Ser)
c.92-3601C>T (n.92-3601C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380945G>CCA351215499COL6A3c.1249C>G (p.Pro417Ala)
c.1867C>G (p.Pro623Ala)
c.646C>G (p.Pro216Ala)
c.92-3601C>G (n.92-3601C>G)
2g.237380945G=CA1337627195COL6A3c.1249C= (p.Pro417=)
c.1867C= (p.Pro623=)
c.646C= (p.Pro216=)
c.92-3601C= (n.92-3601C=)
2g.237380945G>TCA351215497COL6A3c.1249C>A (p.Pro417Thr)
c.1867C>A (p.Pro623Thr)
c.646C>A (p.Pro216Thr)
c.92-3601C>A (n.92-3601C>A)
2g.237380946T>ACA431674675COL6A3c.1248A>T (p.Ala416=)
c.1866A>T (p.Ala622=)
c.645A>T (p.Ala215=)
c.92-3602A>T (n.92-3602A>T)
2g.237380946T>CCA2189538COL6A3c.1248A>G (p.Ala416=)
c.1866A>G (p.Ala622=)
c.645A>G (p.Ala215=)
c.92-3602A>G (n.92-3602A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237380946T>GCA431674677COL6A3c.1248A>C (p.Ala416=)
c.1866A>C (p.Ala622=)
c.645A>C (p.Ala215=)
c.92-3602A>C (n.92-3602A>C)
2g.237380946T=CA1337627196COL6A3c.1248A= (p.Ala416=)
c.1866A= (p.Ala622=)
c.645A= (p.Ala215=)
c.92-3602A= (n.92-3602A=)
2g.237380947G>ACA351215502COL6A3c.1247C>T (p.Ala416Val)
c.1865C>T (p.Ala622Val)
c.644C>T (p.Ala215Val)
c.92-3603C>T (n.92-3603C>T)
 COSMIC
2g.237380947G>CCA351215503COL6A3c.1247C>G (p.Ala416Gly)
c.1865C>G (p.Ala622Gly)
c.644C>G (p.Ala215Gly)
c.92-3603C>G (n.92-3603C>G)
2g.237380947G=CA1337627197COL6A3c.1247C= (p.Ala416=)
c.1865C= (p.Ala622=)
c.644C= (p.Ala215=)
c.92-3603C= (n.92-3603C=)
2g.237380947G>TCA351215504COL6A3c.1247C>A (p.Ala416Glu)
c.1865C>A (p.Ala622Glu)
c.644C>A (p.Ala215Glu)
c.92-3603C>A (n.92-3603C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.237380952_237380959delCA2577290182COL6A3c.1240_1247del (p.Leu414ThrfsTer10)
c.1858_1865del (p.Leu620ThrfsTer10)
c.637_644del (p.Leu213ThrfsTer10)
c.92-3610_92-3603del (n.92-3610_92-3603del)
2g.237380948C>ACA351215505COL6A3c.1246G>T (p.Ala416Ser)
c.1864G>T (p.Ala622Ser)
c.643G>T (p.Ala215Ser)
c.92-3604G>T (n.92-3604G>T)
2g.237380948C=CA1337627198COL6A3c.1246G= (p.Ala416=)
c.1864G= (p.Ala622=)
c.643G= (p.Ala215=)
c.92-3604G= (n.92-3604G=)
2g.237380948C>GCA351215506COL6A3c.1246G>C (p.Ala416Pro)
c.1864G>C (p.Ala622Pro)
c.643G>C (p.Ala215Pro)
c.92-3604G>C (n.92-3604G>C)
2g.237380948C>TCA2189539COL6A3c.1246G>A (p.Ala416Thr)
c.1864G>A (p.Ala622Thr)
c.643G>A (p.Ala215Thr)
c.92-3604G>A (n.92-3604G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237380949C>ACA431674682COL6A3c.1245G>T (p.Leu415=)
c.1863G>T (p.Leu621=)
c.642G>T (p.Leu214=)
c.92-3605G>T (n.92-3605G>T)
2g.237380949C>GCA431674679COL6A3c.1245G>C (p.Leu415=)
c.1863G>C (p.Leu621=)
c.642G>C (p.Leu214=)
c.92-3605G>C (n.92-3605G>C)
2g.237380949C>TCA431674680COL6A3c.1245G>A (p.Leu415=)
c.1863G>A (p.Leu621=)
c.642G>A (p.Leu214=)
c.92-3605G>A (n.92-3605G>A)
2g.237380949_237380950insCGCA2561546323COL6A3c.1244_1245insCG (p.Ala416GlyfsTer?)
c.1862_1863insCG (p.Ala622GlyfsTer?)
c.641_642insCG (p.Ala215GlyfsTer?)
c.92-3606_92-3605insCG (n.92-3606_92-3605insCG)
2g.237380950A>CCA351215507COL6A3c.1244T>G (p.Leu415Arg)
c.1862T>G (p.Leu621Arg)
c.641T>G (p.Leu214Arg)
c.92-3606T>G (n.92-3606T>G)
2g.237380950A>GCA351215508COL6A3c.1244T>C (p.Leu415Pro)
c.1862T>C (p.Leu621Pro)
c.641T>C (p.Leu214Pro)
c.92-3606T>C (n.92-3606T>C)
2g.237380950A>TCA351215509COL6A3c.1244T>A (p.Leu415Gln)
c.1862T>A (p.Leu621Gln)
c.641T>A (p.Leu214Gln)
c.92-3606T>A (n.92-3606T>A)
2g.237380951G>ACA2189540COL6A3c.1243C>T (p.Leu415=)
c.1861C>T (p.Leu621=)
c.640C>T (p.Leu214=)
c.92-3607C>T (n.92-3607C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380951G>CCA351215511COL6A3c.1243C>G (p.Leu415Val)
c.1861C>G (p.Leu621Val)
c.640C>G (p.Leu214Val)
c.92-3607C>G (n.92-3607C>G)
2g.237380951G=CA1337627199COL6A3c.1243C= (p.Leu415=)
c.1861C= (p.Leu621=)
c.640C= (p.Leu214=)
c.92-3607C= (n.92-3607C=)
2g.237380951G>TCA351215510COL6A3c.1243C>A (p.Leu415Met)
c.1861C>A (p.Leu621Met)
c.640C>A (p.Leu214Met)
c.92-3607C>A (n.92-3607C>A)
2g.237380952C>ACA351215512COL6A3c.1242G>T (p.Leu414Phe)
c.1860G>T (p.Leu620Phe)
c.639G>T (p.Leu213Phe)
c.92-3608G>T (n.92-3608G>T)
 gnomAD v4
2g.237380952C>GCA351215513COL6A3c.1242G>C (p.Leu414Phe)
c.1860G>C (p.Leu620Phe)
c.639G>C (p.Leu213Phe)
c.92-3608G>C (n.92-3608G>C)
2g.237380952C>TCA431674683COL6A3c.1242G>A (p.Leu414=)
c.1860G>A (p.Leu620=)
c.639G>A (p.Leu213=)
c.92-3608G>A (n.92-3608G>A)
2g.237380953A>CCA351215514COL6A3c.1241T>G (p.Leu414Trp)
c.1859T>G (p.Leu620Trp)
c.638T>G (p.Leu213Trp)
c.92-3609T>G (n.92-3609T>G)
2g.237380953A>GCA351215515COL6A3c.1241T>C (p.Leu414Ser)
c.1859T>C (p.Leu620Ser)
c.638T>C (p.Leu213Ser)
c.92-3609T>C (n.92-3609T>C)
2g.237380953A>TCA351215516COL6A3c.1241T>A (p.Leu414Ter)
c.1859T>A (p.Leu620Ter)
c.638T>A (p.Leu213Ter)
c.92-3609T>A (n.92-3609T>A)
2g.237380954A>CCA351215517COL6A3c.1240T>G (p.Leu414Val)
c.1858T>G (p.Leu620Val)
c.637T>G (p.Leu213Val)
c.92-3610T>G (n.92-3610T>G)
2g.237380954A>GCA431674685COL6A3c.1240T>C (p.Leu414=)
c.1858T>C (p.Leu620=)
c.637T>C (p.Leu213=)
c.92-3610T>C (n.92-3610T>C)
2g.237380954A>TCA351215518COL6A3c.1240T>A (p.Leu414Met)
c.1858T>A (p.Leu620Met)
c.637T>A (p.Leu213Met)
c.92-3610T>A (n.92-3610T>A)
2g.237380955G>ACA2189541COL6A3c.1239C>T (p.Gly413=)
c.1857C>T (p.Gly619=)
c.636C>T (p.Gly212=)
c.92-3611C>T (n.92-3611C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380955G>CCA431674686COL6A3c.1239C>G (p.Gly413=)
c.1857C>G (p.Gly619=)
c.636C>G (p.Gly212=)
c.92-3611C>G (n.92-3611C>G)
2g.237380955G=CA1337627200COL6A3c.1239C= (p.Gly413=)
c.1857C= (p.Gly619=)
c.636C= (p.Gly212=)
c.92-3611C= (n.92-3611C=)
2g.237380955G>TCA431674687COL6A3c.1239C>A (p.Gly413=)
c.1857C>A (p.Gly619=)
c.636C>A (p.Gly212=)
c.92-3611C>A (n.92-3611C>A)
2g.237380956C>ACA351215519COL6A3c.1238G>T (p.Gly413Val)
c.1856G>T (p.Gly619Val)
c.635G>T (p.Gly212Val)
c.92-3612G>T (n.92-3612G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.237380956C=CA1337627201COL6A3c.1238G= (p.Gly413=)
c.1856G= (p.Gly619=)
c.635G= (p.Gly212=)
c.92-3612G= (n.92-3612G=)
2g.237380956C>GCA351215520COL6A3c.1238G>C (p.Gly413Ala)
c.1856G>C (p.Gly619Ala)
c.635G>C (p.Gly212Ala)
c.92-3612G>C (n.92-3612G>C)
 dbSNP gnomAD v4
2g.237380956C>TCA351215521COL6A3c.1238G>A (p.Gly413Asp)
c.1856G>A (p.Gly619Asp)
c.635G>A (p.Gly212Asp)
c.92-3612G>A (n.92-3612G>A)
2g.237380957delCA2663799120COL6A3c.1238del (p.Gly413AlafsTer?)
c.1856del (p.Gly619AlafsTer?)
c.635del (p.Gly212AlafsTer?)
c.92-3612del (n.92-3612del)
 gnomAD v4
2g.237380957C>ACA351215522COL6A3c.1237G>T (p.Gly413Cys)
c.1855G>T (p.Gly619Cys)
c.634G>T (p.Gly212Cys)
c.92-3613G>T (n.92-3613G>T)
2g.237380957C>GCA351215523COL6A3c.1237G>C (p.Gly413Arg)
c.1855G>C (p.Gly619Arg)
c.634G>C (p.Gly212Arg)
c.92-3613G>C (n.92-3613G>C)
2g.237380957C>TCA351215524COL6A3c.1237G>A (p.Gly413Ser)
c.1855G>A (p.Gly619Ser)
c.634G>A (p.Gly212Ser)
c.92-3613G>A (n.92-3613G>A)
2g.237380958A>CCA431674688COL6A3c.1236T>G (p.Pro412=)
c.1854T>G (p.Pro618=)
c.633T>G (p.Pro211=)
c.92-3614T>G (n.92-3614T>G)
2g.237380958A>GCA431674690COL6A3c.1236T>C (p.Pro412=)
c.1854T>C (p.Pro618=)
c.633T>C (p.Pro211=)
c.92-3614T>C (n.92-3614T>C)
2g.237380958A>TCA431674689COL6A3c.1236T>A (p.Pro412=)
c.1854T>A (p.Pro618=)
c.633T>A (p.Pro211=)
c.92-3614T>A (n.92-3614T>A)
2g.237380959G>ACA351215525COL6A3c.1235C>T (p.Pro412Leu)
c.1853C>T (p.Pro618Leu)
c.632C>T (p.Pro211Leu)
c.92-3615C>T (n.92-3615C>T)
2g.237380959G>CCA351215527COL6A3c.1235C>G (p.Pro412Arg)
c.1853C>G (p.Pro618Arg)
c.632C>G (p.Pro211Arg)
c.92-3615C>G (n.92-3615C>G)
2g.237380959G>TCA351215526COL6A3c.1235C>A (p.Pro412His)
c.1853C>A (p.Pro618His)
c.632C>A (p.Pro211His)
c.92-3615C>A (n.92-3615C>A)
2g.237380960delCA2663799121COL6A3c.1235del (p.Pro412LeufsTer?)
c.1853del (p.Pro618LeufsTer?)
c.632del (p.Pro211LeufsTer?)
c.92-3615del (n.92-3615del)
 gnomAD v4
2g.237380960G>ACA67828100COL6A3c.1234C>T (p.Pro412Ser)
c.1852C>T (p.Pro618Ser)
c.631C>T (p.Pro211Ser)
c.92-3616C>T (n.92-3616C>T)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.237380960G>CCA351215528COL6A3c.1234C>G (p.Pro412Ala)
c.1852C>G (p.Pro618Ala)
c.631C>G (p.Pro211Ala)
c.92-3616C>G (n.92-3616C>G)
2g.237380960G=CA1337627202COL6A3c.1234C= (p.Pro412=)
c.1852C= (p.Pro618=)
c.631C= (p.Pro211=)
c.92-3616C= (n.92-3616C=)
2g.237380960G>TCA351215530COL6A3c.1234C>A (p.Pro412Thr)
c.1852C>A (p.Pro618Thr)
c.631C>A (p.Pro211Thr)
c.92-3616C>A (n.92-3616C>A)
2g.237380961C>ACA431674693COL6A3c.1233G>T (p.Leu411=)
c.1851G>T (p.Leu617=)
c.630G>T (p.Leu210=)
c.92-3617G>T (n.92-3617G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237380961C=CA1337627203COL6A3c.1233G= (p.Leu411=)
c.1851G= (p.Leu617=)
c.630G= (p.Leu210=)
c.92-3617G= (n.92-3617G=)
2g.237380961C>GCA431674691COL6A3c.1233G>C (p.Leu411=)
c.1851G>C (p.Leu617=)
c.630G>C (p.Leu210=)
c.92-3617G>C (n.92-3617G>C)
2g.237380961C>TCA431674692COL6A3c.1233G>A (p.Leu411=)
c.1851G>A (p.Leu617=)
c.630G>A (p.Leu210=)
c.92-3617G>A (n.92-3617G>A)
 COSMIC COSMIC
2g.237380962A=CA1337627204COL6A3c.1232T= (p.Leu411=)
c.1850T= (p.Leu617=)
c.629T= (p.Leu210=)
c.92-3618T= (n.92-3618T=)
2g.237380962A>CCA351215533COL6A3c.1232T>G (p.Leu411Arg)
c.1850T>G (p.Leu617Arg)
c.629T>G (p.Leu210Arg)
c.92-3618T>G (n.92-3618T>G)
2g.237380962A>GCA351215534COL6A3c.1232T>C (p.Leu411Pro)
c.1850T>C (p.Leu617Pro)
c.629T>C (p.Leu210Pro)
c.92-3618T>C (n.92-3618T>C)
2g.237380962A>TCA351215536COL6A3c.1232T>A (p.Leu411Gln)
c.1850T>A (p.Leu617Gln)
c.629T>A (p.Leu210Gln)
c.92-3618T>A (n.92-3618T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.237380963G>ACA2189542COL6A3c.1231C>T (p.Leu411=)
c.1849C>T (p.Leu617=)
c.628C>T (p.Leu210=)
c.92-3619C>T (n.92-3619C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380963G>CCA351215540COL6A3c.1231C>G (p.Leu411Val)
c.1849C>G (p.Leu617Val)
c.628C>G (p.Leu210Val)
c.92-3619C>G (n.92-3619C>G)
2g.237380963G=CA1337627205COL6A3c.1231C= (p.Leu411=)
c.1849C= (p.Leu617=)
c.628C= (p.Leu210=)
c.92-3619C= (n.92-3619C=)
2g.237380963G>TCA351215542COL6A3c.1231C>A (p.Leu411Met)
c.1849C>A (p.Leu617Met)
c.628C>A (p.Leu210Met)
c.92-3619C>A (n.92-3619C>A)
2g.237380964C>ACA351215545COL6A3c.1230G>T (p.Met410Ile)
c.1848G>T (p.Met616Ile)
c.627G>T (p.Met209Ile)
c.92-3620G>T (n.92-3620G>T)
2g.237380964C=CA1337627206COL6A3c.1230G= (p.Met410=)
c.1848G= (p.Met616=)
c.627G= (p.Met209=)
c.92-3620G= (n.92-3620G=)
2g.237380964C>GCA351215548COL6A3c.1230G>C (p.Met410Ile)
c.1848G>C (p.Met616Ile)
c.627G>C (p.Met209Ile)
c.92-3620G>C (n.92-3620G>C)
2g.237380964C>TCA351215550COL6A3c.1230G>A (p.Met410Ile)
c.1848G>A (p.Met616Ile)
c.627G>A (p.Met209Ile)
c.92-3620G>A (n.92-3620G>A)
 dbSNP gnomAD v4
2g.237380965A>CCA351215554COL6A3c.1229T>G (p.Met410Arg)
c.1847T>G (p.Met616Arg)
c.626T>G (p.Met209Arg)
c.92-3621T>G (n.92-3621T>G)
2g.237380965A>GCA351215560COL6A3c.1229T>C (p.Met410Thr)
c.1847T>C (p.Met616Thr)
c.626T>C (p.Met209Thr)
c.92-3621T>C (n.92-3621T>C)
2g.237380965A>TCA351215556COL6A3c.1229T>A (p.Met410Lys)
c.1847T>A (p.Met616Lys)
c.626T>A (p.Met209Lys)
c.92-3621T>A (n.92-3621T>A)
2g.237380966T>ACA351215562COL6A3c.1228A>T (p.Met410Leu)
c.1846A>T (p.Met616Leu)
c.625A>T (p.Met209Leu)
c.92-3622A>T (n.92-3622A>T)
 gnomAD v4
2g.237380966T>CCA10606203COL6A3c.1228A>G (p.Met410Val)
c.1846A>G (p.Met616Val)
c.625A>G (p.Met209Val)
c.92-3622A>G (n.92-3622A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237380966T>GCA351215565COL6A3c.1228A>C (p.Met410Leu)
c.1846A>C (p.Met616Leu)
c.625A>C (p.Met209Leu)
c.92-3622A>C (n.92-3622A>C)
 dbSNP gnomAD v3 gnomAD v4
2g.237380966T=CA1337627207COL6A3c.1228A= (p.Met410=)
c.1846A= (p.Met616=)
c.625A= (p.Met209=)
c.92-3622A= (n.92-3622A=)
2g.237380967G>ACA431674694COL6A3c.1227C>T (p.Gly409=)
c.1845C>T (p.Gly615=)
c.624C>T (p.Gly208=)
c.92-3623C>T (n.92-3623C>T)
2g.237380967G>CCA431674695COL6A3c.1227C>G (p.Gly409=)
c.1845C>G (p.Gly615=)
c.624C>G (p.Gly208=)
c.92-3623C>G (n.92-3623C>G)
2g.237380967G>TCA431674696COL6A3c.1227C>A (p.Gly409=)
c.1845C>A (p.Gly615=)
c.624C>A (p.Gly208=)
c.92-3623C>A (n.92-3623C>A)
 gnomAD v4
2g.237380968C>ACA351215567COL6A3c.1226G>T (p.Gly409Val)
c.1844G>T (p.Gly615Val)
c.623G>T (p.Gly208Val)
c.92-3624G>T (n.92-3624G>T)
 gnomAD v4
2g.237380968C=CA1337627208COL6A3c.1226G= (p.Gly409=)
c.1844G= (p.Gly615=)
c.623G= (p.Gly208=)
c.92-3624G= (n.92-3624G=)
2g.237380968C>GCA2189543COL6A3c.1226G>C (p.Gly409Ala)
c.1844G>C (p.Gly615Ala)
c.623G>C (p.Gly208Ala)
c.92-3624G>C (n.92-3624G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380968C>TCA351215572COL6A3c.1226G>A (p.Gly409Asp)
c.1844G>A (p.Gly615Asp)
c.623G>A (p.Gly208Asp)
c.92-3624G>A (n.92-3624G>A)
 dbSNP gnomAD v4
2g.237380969C>ACA351215576COL6A3c.1225G>T (p.Gly409Cys)
c.1843G>T (p.Gly615Cys)
c.622G>T (p.Gly208Cys)
c.92-3625G>T (n.92-3625G>T)
 COSMIC COSMIC
2g.237380969C>GCA351215578COL6A3c.1225G>C (p.Gly409Arg)
c.1843G>C (p.Gly615Arg)
c.622G>C (p.Gly208Arg)
c.92-3625G>C (n.92-3625G>C)
2g.237380969C>TCA351215581COL6A3c.1225G>A (p.Gly409Ser)
c.1843G>A (p.Gly615Ser)
c.622G>A (p.Gly208Ser)
c.92-3625G>A (n.92-3625G>A)
2g.237380970T>ACA351215599COL6A3c.1224A>T (p.Gln408His)
c.1842A>T (p.Gln614His)
c.621A>T (p.Gln207His)
c.92-3626A>T (n.92-3626A>T)
2g.237380970T>CCA431674697COL6A3c.1224A>G (p.Gln408=)
c.1842A>G (p.Gln614=)
c.621A>G (p.Gln207=)
c.92-3626A>G (n.92-3626A>G)
 dbSNP
2g.237380970T>GCA351215584COL6A3c.1224A>C (p.Gln408His)
c.1842A>C (p.Gln614His)
c.621A>C (p.Gln207His)
c.92-3626A>C (n.92-3626A>C)
2g.237380971T>ACA351215603COL6A3c.1223A>T (p.Gln408Leu)
c.1841A>T (p.Gln614Leu)
c.620A>T (p.Gln207Leu)
c.92-3627A>T (n.92-3627A>T)
2g.237380971T>CCA351215606COL6A3c.1223A>G (p.Gln408Arg)
c.1841A>G (p.Gln614Arg)
c.620A>G (p.Gln207Arg)
c.92-3627A>G (n.92-3627A>G)
 gnomAD v4
2g.237380971T>GCA351215610COL6A3c.1223A>C (p.Gln408Pro)
c.1841A>C (p.Gln614Pro)
c.620A>C (p.Gln207Pro)
c.92-3627A>C (n.92-3627A>C)
2g.237380972G>ACA351215616COL6A3c.1222C>T (p.Gln408Ter)
c.1840C>T (p.Gln614Ter)
c.619C>T (p.Gln207Ter)
c.92-3628C>T (n.92-3628C>T)
 ClinVar dbSNP
2g.237380972G>CCA351215617COL6A3c.1222C>G (p.Gln408Glu)
c.1840C>G (p.Gln614Glu)
c.619C>G (p.Gln207Glu)
c.92-3628C>G (n.92-3628C>G)
2g.237380972G=CA1337627209COL6A3c.1222C= (p.Gln408=)
c.1840C= (p.Gln614=)
c.619C= (p.Gln207=)
c.92-3628C= (n.92-3628C=)
2g.237380972G>TCA351215624COL6A3c.1222C>A (p.Gln408Lys)
c.1840C>A (p.Gln614Lys)
c.619C>A (p.Gln207Lys)
c.92-3628C>A (n.92-3628C>A)
2g.237380973C>ACA351215630COL6A3c.1221G>T (p.Leu407Phe)
c.1839G>T (p.Leu613Phe)
c.618G>T (p.Leu206Phe)
c.92-3629G>T (n.92-3629G>T)
 ClinVar gnomAD v4
2g.237380973C=CA1337627210COL6A3c.1221G= (p.Leu407=)
c.1839G= (p.Leu613=)
c.618G= (p.Leu206=)
c.92-3629G= (n.92-3629G=)
2g.237380973C>GCA351215626COL6A3c.1221G>C (p.Leu407Phe)
c.1839G>C (p.Leu613Phe)
c.618G>C (p.Leu206Phe)
c.92-3629G>C (n.92-3629G>C)
2g.237380973C>TCA67828112COL6A3c.1221G>A (p.Leu407=)
c.1839G>A (p.Leu613=)
c.618G>A (p.Leu206=)
c.92-3629G>A (n.92-3629G>A)
 ClinVar dbSNP gnomAD v4
2g.237380974A=CA1337627211COL6A3c.1220T= (p.Leu407=)
c.1838T= (p.Leu613=)
c.617T= (p.Leu206=)
c.92-3630T= (n.92-3630T=)
2g.237380974A>CCA351215633COL6A3c.1220T>G (p.Leu407Trp)
c.1838T>G (p.Leu613Trp)
c.617T>G (p.Leu206Trp)
c.92-3630T>G (n.92-3630T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237380974A>GCA351215635COL6A3c.1220T>C (p.Leu407Ser)
c.1838T>C (p.Leu613Ser)
c.617T>C (p.Leu206Ser)
c.92-3630T>C (n.92-3630T>C)
2g.237380974A>TCA351215638COL6A3c.1220T>A (p.Leu407Ter)
c.1838T>A (p.Leu613Ter)
c.617T>A (p.Leu206Ter)
c.92-3630T>A (n.92-3630T>A)
2g.237380975A>CCA351215641COL6A3c.1219T>G (p.Leu407Val)
c.1837T>G (p.Leu613Val)
c.616T>G (p.Leu206Val)
c.92-3631T>G (n.92-3631T>G)
2g.237380975A>GCA431674698COL6A3c.1219T>C (p.Leu407=)
c.1837T>C (p.Leu613=)
c.616T>C (p.Leu206=)
c.92-3631T>C (n.92-3631T>C)
 gnomAD v4
2g.237380975A>TCA351215642COL6A3c.1219T>A (p.Leu407Met)
c.1837T>A (p.Leu613Met)
c.616T>A (p.Leu206Met)
c.92-3631T>A (n.92-3631T>A)
2g.237380976T>ACA431674699COL6A3c.1218A>T (p.Pro406=)
c.1836A>T (p.Pro612=)
c.615A>T (p.Pro205=)
c.92-3632A>T (n.92-3632A>T)
2g.237380976T>CCA431674700COL6A3c.1218A>G (p.Pro406=)
c.1836A>G (p.Pro612=)
c.615A>G (p.Pro205=)
c.92-3632A>G (n.92-3632A>G)
 dbSNP gnomAD v4
2g.237380976T>GCA431674701COL6A3c.1218A>C (p.Pro406=)
c.1836A>C (p.Pro612=)
c.615A>C (p.Pro205=)
c.92-3632A>C (n.92-3632A>C)
2g.237380976T=CA1337627212COL6A3c.1218A= (p.Pro406=)
c.1836A= (p.Pro612=)
c.615A= (p.Pro205=)
c.92-3632A= (n.92-3632A=)
2g.237380977G>ACA351215645COL6A3c.1217C>T (p.Pro406Leu)
c.1835C>T (p.Pro612Leu)
c.614C>T (p.Pro205Leu)
c.92-3633C>T (n.92-3633C>T)
2g.237380977G>CCA351215648COL6A3c.1217C>G (p.Pro406Arg)
c.1835C>G (p.Pro612Arg)
c.614C>G (p.Pro205Arg)
c.92-3633C>G (n.92-3633C>G)
2g.237380977G>TCA351215650COL6A3c.1217C>A (p.Pro406Gln)
c.1835C>A (p.Pro612Gln)
c.614C>A (p.Pro205Gln)
c.92-3633C>A (n.92-3633C>A)
2g.237380978G>ACA2189545COL6A3c.1216C>T (p.Pro406Ser)
c.1834C>T (p.Pro612Ser)
c.613C>T (p.Pro205Ser)
c.92-3634C>T (n.92-3634C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237380978G>CCA2189544COL6A3c.1216C>G (p.Pro406Ala)
c.1834C>G (p.Pro612Ala)
c.613C>G (p.Pro205Ala)
c.92-3634C>G (n.92-3634C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380978G=CA1337627213COL6A3c.1216C= (p.Pro406=)
c.1834C= (p.Pro612=)
c.613C= (p.Pro205=)
c.92-3634C= (n.92-3634C=)
2g.237380978G>TCA351215658COL6A3c.1216C>A (p.Pro406Thr)
c.1834C>A (p.Pro612Thr)
c.613C>A (p.Pro205Thr)
c.92-3634C>A (n.92-3634C>A)
2g.237380979G>ACA2189546COL6A3c.1215C>T (p.Ala405=)
c.1833C>T (p.Ala611=)
c.612C>T (p.Ala204=)
c.92-3635C>T (n.92-3635C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380979G>CCA431674702COL6A3c.1215C>G (p.Ala405=)
c.1833C>G (p.Ala611=)
c.612C>G (p.Ala204=)
c.92-3635C>G (n.92-3635C>G)
2g.237380979G=CA1337627214COL6A3c.1215C= (p.Ala405=)
c.1833C= (p.Ala611=)
c.612C= (p.Ala204=)
c.92-3635C= (n.92-3635C=)
2g.237380979G>TCA431674703COL6A3c.1215C>A (p.Ala405=)
c.1833C>A (p.Ala611=)
c.612C>A (p.Ala204=)
c.92-3635C>A (n.92-3635C>A)
 ClinVar dbSNP gnomAD v4
2g.237380980G>ACA351215671COL6A3c.1214C>T (p.Ala405Val)
c.1832C>T (p.Ala611Val)
c.611C>T (p.Ala204Val)
c.92-3636C>T (n.92-3636C>T)
2g.237380980G>CCA351215684COL6A3c.1214C>G (p.Ala405Gly)
c.1832C>G (p.Ala611Gly)
c.611C>G (p.Ala204Gly)
c.92-3636C>G (n.92-3636C>G)
2g.237380980G>TCA351215674COL6A3c.1214C>A (p.Ala405Asp)
c.1832C>A (p.Ala611Asp)
c.611C>A (p.Ala204Asp)
c.92-3636C>A (n.92-3636C>A)
2g.237380981C>ACA351215686COL6A3c.1213G>T (p.Ala405Ser)
c.1831G>T (p.Ala611Ser)
c.610G>T (p.Ala204Ser)
c.92-3637G>T (n.92-3637G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.237380981C=CA1337627215COL6A3c.1213G= (p.Ala405=)
c.1831G= (p.Ala611=)
c.610G= (p.Ala204=)
c.92-3637G= (n.92-3637G=)
2g.237380981C>GCA351215687COL6A3c.1213G>C (p.Ala405Pro)
c.1831G>C (p.Ala611Pro)
c.610G>C (p.Ala204Pro)
c.92-3637G>C (n.92-3637G>C)
2g.237380981C>TCA2189547COL6A3c.1213G>A (p.Ala405Thr)
c.1831G>A (p.Ala611Thr)
c.610G>A (p.Ala204Thr)
c.92-3637G>A (n.92-3637G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.237380982G>ACA2189548COL6A3c.1212C>T (p.Ala404=)
c.1830C>T (p.Ala610=)
c.609C>T (p.Ala203=)
c.92-3638C>T (n.92-3638C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380982G>CCA431674705COL6A3c.1212C>G (p.Ala404=)
c.1830C>G (p.Ala610=)
c.609C>G (p.Ala203=)
c.92-3638C>G (n.92-3638C>G)
 gnomAD v4
2g.237380982G=CA1337627216COL6A3c.1212C= (p.Ala404=)
c.1830C= (p.Ala610=)
c.609C= (p.Ala203=)
c.92-3638C= (n.92-3638C=)
2g.237380982G>TCA431674704COL6A3c.1212C>A (p.Ala404=)
c.1830C>A (p.Ala610=)
c.609C>A (p.Ala203=)
c.92-3638C>A (n.92-3638C>A)
 ClinVar dbSNP
2g.237380983G>ACA351215692COL6A3c.1211C>T (p.Ala404Val)
c.1829C>T (p.Ala610Val)
c.608C>T (p.Ala203Val)
c.92-3639C>T (n.92-3639C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237380983G>CCA351215695COL6A3c.1211C>G (p.Ala404Gly)
c.1829C>G (p.Ala610Gly)
c.608C>G (p.Ala203Gly)
c.92-3639C>G (n.92-3639C>G)
2g.237380983G=CA1337627217COL6A3c.1211C= (p.Ala404=)
c.1829C= (p.Ala610=)
c.608C= (p.Ala203=)
c.92-3639C= (n.92-3639C=)
2g.237380983G>TCA351215697COL6A3c.1211C>A (p.Ala404Asp)
c.1829C>A (p.Ala610Asp)
c.608C>A (p.Ala203Asp)
c.92-3639C>A (n.92-3639C>A)
2g.237380984C>ACA351215700COL6A3c.1210G>T (p.Ala404Ser)
c.1828G>T (p.Ala610Ser)
c.607G>T (p.Ala203Ser)
c.92-3640G>T (n.92-3640G>T)
2g.237380984C>GCA351215703COL6A3c.1210G>C (p.Ala404Pro)
c.1828G>C (p.Ala610Pro)
c.607G>C (p.Ala203Pro)
c.92-3640G>C (n.92-3640G>C)
2g.237380984C>TCA351215705COL6A3c.1210G>A (p.Ala404Thr)
c.1828G>A (p.Ala610Thr)
c.607G>A (p.Ala203Thr)
c.92-3640G>A (n.92-3640G>A)
2g.237380985T>ACA431674708COL6A3c.1209A>T (p.Arg403=)
c.1827A>T (p.Arg609=)
c.606A>T (p.Arg202=)
c.92-3641A>T (n.92-3641A>T)
2g.237380985T>CCA431674706COL6A3c.1209A>G (p.Arg403=)
c.1827A>G (p.Arg609=)
c.606A>G (p.Arg202=)
c.92-3641A>G (n.92-3641A>G)
2g.237380985T>GCA431674707COL6A3c.1209A>C (p.Arg403=)
c.1827A>C (p.Arg609=)
c.606A>C (p.Arg202=)
c.92-3641A>C (n.92-3641A>C)
2g.237380986C>ACA351215709COL6A3c.1208G>T (p.Arg403Leu)
c.1826G>T (p.Arg609Leu)
c.605G>T (p.Arg202Leu)
c.92-3642G>T (n.92-3642G>T)
 gnomAD v4
2g.237380986C=CA1337627218COL6A3c.1208G= (p.Arg403=)
c.1826G= (p.Arg609=)
c.605G= (p.Arg202=)
c.92-3642G= (n.92-3642G=)
2g.237380986C>GCA2189549COL6A3c.1208G>C (p.Arg403Pro)
c.1826G>C (p.Arg609Pro)
c.605G>C (p.Arg202Pro)
c.92-3642G>C (n.92-3642G>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.237380986C>TCA295305COL6A3c.1208G>A (p.Arg403Gln)
c.1826G>A (p.Arg609Gln)
c.605G>A (p.Arg202Gln)
c.92-3642G>A (n.92-3642G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380987G>ACA2189550COL6A3c.1207C>T (p.Arg403Ter)
c.1825C>T (p.Arg609Ter)
c.604C>T (p.Arg202Ter)
c.92-3643C>T (n.92-3643C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237380987G>CCA351215717COL6A3c.1207C>G (p.Arg403Gly)
c.1825C>G (p.Arg609Gly)
c.604C>G (p.Arg202Gly)
c.92-3643C>G (n.92-3643C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.237380987G=CA1337627219COL6A3c.1207C= (p.Arg403=)
c.1825C= (p.Arg609=)
c.604C= (p.Arg202=)
c.92-3643C= (n.92-3643C=)
2g.237380987G>TCA431674709COL6A3c.1207C>A (p.Arg403=)
c.1825C>A (p.Arg609=)
c.604C>A (p.Arg202=)
c.92-3643C>A (n.92-3643C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237380988G>ACA431674710COL6A3c.1206C>T (p.Phe402=)
c.1824C>T (p.Phe608=)
c.603C>T (p.Phe201=)
c.92-3644C>T (n.92-3644C>T)
2g.237380988G>CCA351215721COL6A3c.1206C>G (p.Phe402Leu)
c.1824C>G (p.Phe608Leu)
c.603C>G (p.Phe201Leu)
c.92-3644C>G (n.92-3644C>G)
2g.237380988G>TCA351215723COL6A3c.1206C>A (p.Phe402Leu)
c.1824C>A (p.Phe608Leu)
c.603C>A (p.Phe201Leu)
c.92-3644C>A (n.92-3644C>A)
2g.237380989A>CCA351215725COL6A3c.1205T>G (p.Phe402Cys)
c.1823T>G (p.Phe608Cys)
c.602T>G (p.Phe201Cys)
c.92-3645T>G (n.92-3645T>G)
2g.237380989A>GCA351215727COL6A3c.1205T>C (p.Phe402Ser)
c.1823T>C (p.Phe608Ser)
c.602T>C (p.Phe201Ser)
c.92-3645T>C (n.92-3645T>C)
2g.237380989A>TCA351215730COL6A3c.1205T>A (p.Phe402Tyr)
c.1823T>A (p.Phe608Tyr)
c.602T>A (p.Phe201Tyr)
c.92-3645T>A (n.92-3645T>A)
2g.237380990A>CCA351215732COL6A3c.1204T>G (p.Phe402Val)
c.1822T>G (p.Phe608Val)
c.601T>G (p.Phe201Val)
c.92-3646T>G (n.92-3646T>G)
2g.237380990A>GCA351215735COL6A3c.1204T>C (p.Phe402Leu)
c.1822T>C (p.Phe608Leu)
c.601T>C (p.Phe201Leu)
c.92-3646T>C (n.92-3646T>C)
2g.237380990A>TCA351215736COL6A3c.1204T>A (p.Phe402Ile)
c.1822T>A (p.Phe608Ile)
c.601T>A (p.Phe201Ile)
c.92-3646T>A (n.92-3646T>A)
2g.237380991C>ACA351215738COL6A3c.1203G>T (p.Glu401Asp)
c.1821G>T (p.Glu607Asp)
c.600G>T (p.Glu200Asp)
c.92-3647G>T (n.92-3647G>T)
2g.237380991C=CA1337627220COL6A3c.1203G= (p.Glu401=)
c.1821G= (p.Glu607=)
c.600G= (p.Glu200=)
c.92-3647G= (n.92-3647G=)
2g.237380991C>GCA351215740COL6A3c.1203G>C (p.Glu401Asp)
c.1821G>C (p.Glu607Asp)
c.600G>C (p.Glu200Asp)
c.92-3647G>C (n.92-3647G>C)
 gnomAD v4
2g.237380991C>TCA431674711COL6A3c.1203G>A (p.Glu401=)
c.1821G>A (p.Glu607=)
c.600G>A (p.Glu200=)
c.92-3647G>A (n.92-3647G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.237380992T>ACA351215748COL6A3c.1202A>T (p.Glu401Val)
c.1820A>T (p.Glu607Val)
c.599A>T (p.Glu200Val)
c.92-3648A>T (n.92-3648A>T)
2g.237380992T>CCA351215746COL6A3c.1202A>G (p.Glu401Gly)
c.1820A>G (p.Glu607Gly)
c.599A>G (p.Glu200Gly)
c.92-3648A>G (n.92-3648A>G)
2g.237380992T>GCA351215743COL6A3c.1202A>C (p.Glu401Ala)
c.1820A>C (p.Glu607Ala)
c.599A>C (p.Glu200Ala)
c.92-3648A>C (n.92-3648A>C)
2g.237380993C>ACA351215751COL6A3c.1201G>T (p.Glu401Ter)
c.1819G>T (p.Glu607Ter)
c.598G>T (p.Glu200Ter)
c.92-3649G>T (n.92-3649G>T)
2g.237380993C>GCA351215754COL6A3c.1201G>C (p.Glu401Gln)
c.1819G>C (p.Glu607Gln)
c.598G>C (p.Glu200Gln)
c.92-3649G>C (n.92-3649G>C)
2g.237380993C>TCA351215752COL6A3c.1201G>A (p.Glu401Lys)
c.1819G>A (p.Glu607Lys)
c.598G>A (p.Glu200Lys)
c.92-3649G>A (n.92-3649G>A)
2g.237380994delCA2561902965COL6A3c.1200del (p.Glu401SerfsTer?)
c.1818del (p.Glu607SerfsTer?)
c.597del (p.Glu200SerfsTer?)
c.92-3650del (n.92-3650del)
2g.237380994A>CCA431674712COL6A3c.1200T>G (p.Ala400=)
c.1818T>G (p.Ala606=)
c.597T>G (p.Ala199=)
c.92-3650T>G (n.92-3650T>G)
2g.237380994A>GCA431674713COL6A3c.1200T>C (p.Ala400=)
c.1818T>C (p.Ala606=)
c.597T>C (p.Ala199=)
c.92-3650T>C (n.92-3650T>C)
2g.237380994A>TCA431674714COL6A3c.1200T>A (p.Ala400=)
c.1818T>A (p.Ala606=)
c.597T>A (p.Ala199=)
c.92-3650T>A (n.92-3650T>A)
2g.237380995G>ACA351216643COL6A3c.1199C>T (p.Ala400Val)
c.1817C>T (p.Ala606Val)
c.596C>T (p.Ala199Val)
c.92-3651C>T (n.92-3651C>T)
 COSMIC COSMIC
2g.237380995G>CCA351216646COL6A3c.1199C>G (p.Ala400Gly)
c.1817C>G (p.Ala606Gly)
c.596C>G (p.Ala199Gly)
c.92-3651C>G (n.92-3651C>G)
2g.237380995G>TCA351216649COL6A3c.1199C>A (p.Ala400Asp)
c.1817C>A (p.Ala606Asp)
c.596C>A (p.Ala199Asp)
c.92-3651C>A (n.92-3651C>A)
2g.237380996C>ACA351216651COL6A3c.1198G>T (p.Ala400Ser)
c.1816G>T (p.Ala606Ser)
c.595G>T (p.Ala199Ser)
c.92-3652G>T (n.92-3652G>T)
 dbSNP gnomAD v4
2g.237380996C=CA1337627221COL6A3c.1198G= (p.Ala400=)
c.1816G= (p.Ala606=)
c.595G= (p.Ala199=)
c.92-3652G= (n.92-3652G=)
2g.237380996C>GCA351216653COL6A3c.1198G>C (p.Ala400Pro)
c.1816G>C (p.Ala606Pro)
c.595G>C (p.Ala199Pro)
c.92-3652G>C (n.92-3652G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237380996C>TCA351216655COL6A3c.1198G>A (p.Ala400Thr)
c.1816G>A (p.Ala606Thr)
c.595G>A (p.Ala199Thr)
c.92-3652G>A (n.92-3652G>A)
2g.237380997T>ACA431712466COL6A3c.1197A>T (p.Pro399=)
c.1815A>T (p.Pro605=)
c.594A>T (p.Pro198=)
c.92-3653A>T (n.92-3653A>T)
2g.237380997T>CCA431712462COL6A3c.1197A>G (p.Pro399=)
c.1815A>G (p.Pro605=)
c.594A>G (p.Pro198=)
c.92-3653A>G (n.92-3653A>G)
2g.237380997T>GCA431712464COL6A3c.1197A>C (p.Pro399=)
c.1815A>C (p.Pro605=)
c.594A>C (p.Pro198=)
c.92-3653A>C (n.92-3653A>C)
2g.237380998G>ACA351216668COL6A3c.1196C>T (p.Pro399Leu)
c.1814C>T (p.Pro605Leu)
c.593C>T (p.Pro198Leu)
c.92-3654C>T (n.92-3654C>T)
2g.237380998G>CCA351216670COL6A3c.1196C>G (p.Pro399Arg)
c.1814C>G (p.Pro605Arg)
c.593C>G (p.Pro198Arg)
c.92-3654C>G (n.92-3654C>G)
2g.237380998G>TCA351216672COL6A3c.1196C>A (p.Pro399Gln)
c.1814C>A (p.Pro605Gln)
c.593C>A (p.Pro198Gln)
c.92-3654C>A (n.92-3654C>A)
2g.237380999G>ACA351216675COL6A3c.1195C>T (p.Pro399Ser)
c.1813C>T (p.Pro605Ser)
c.592C>T (p.Pro198Ser)
c.92-3655C>T (n.92-3655C>T)
2g.237380999G>CCA351216676COL6A3c.1195C>G (p.Pro399Ala)
c.1813C>G (p.Pro605Ala)
c.592C>G (p.Pro198Ala)
c.92-3655C>G (n.92-3655C>G)
2g.237380999G>TCA351216677COL6A3c.1195C>A (p.Pro399Thr)
c.1813C>A (p.Pro605Thr)
c.592C>A (p.Pro198Thr)
c.92-3655C>A (n.92-3655C>A)
2g.237381000G>ACA2189551COL6A3c.1194C>T (p.Ile398=)
c.1812C>T (p.Ile604=)
c.591C>T (p.Ile197=)
c.92-3656C>T (n.92-3656C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237381000G>CCA351216683COL6A3c.1194C>G (p.Ile398Met)
c.1812C>G (p.Ile604Met)
c.591C>G (p.Ile197Met)
c.92-3656C>G (n.92-3656C>G)
2g.237381000G=CA1337627222COL6A3c.1194C= (p.Ile398=)
c.1812C= (p.Ile604=)
c.591C= (p.Ile197=)
c.92-3656C= (n.92-3656C=)
2g.237381000G>TCA431712468COL6A3c.1194C>A (p.Ile398=)
c.1812C>A (p.Ile604=)
c.591C>A (p.Ile197=)
c.92-3656C>A (n.92-3656C>A)
 gnomAD v4
2g.237381001A>CCA351216691COL6A3c.1193T>G (p.Ile398Ser)
c.1811T>G (p.Ile604Ser)
c.590T>G (p.Ile197Ser)
c.92-3657T>G (n.92-3657T>G)
2g.237381001A>GCA351216699COL6A3c.1193T>C (p.Ile398Thr)
c.1811T>C (p.Ile604Thr)
c.590T>C (p.Ile197Thr)
c.92-3657T>C (n.92-3657T>C)
2g.237381001A>TCA351216700COL6A3c.1193T>A (p.Ile398Asn)
c.1811T>A (p.Ile604Asn)
c.590T>A (p.Ile197Asn)
c.92-3657T>A (n.92-3657T>A)
2g.237381001_237381002insGCA2508298946COL6A3c.1192_1193insC (p.Ile398ThrfsTer4)
c.1810_1811insC (p.Ile604ThrfsTer4)
c.589_590insC (p.Ile197ThrfsTer4)
c.92-3658_92-3657insC (n.92-3658_92-3657insC)
2g.237381002T>ACA351216703COL6A3c.1192A>T (p.Ile398Phe)
c.1810A>T (p.Ile604Phe)
c.589A>T (p.Ile197Phe)
c.92-3658A>T (n.92-3658A>T)
2g.237381002T>CCA351216709COL6A3c.1192A>G (p.Ile398Val)
c.1810A>G (p.Ile604Val)
c.589A>G (p.Ile197Val)
c.92-3658A>G (n.92-3658A>G)
2g.237381002T>GCA351216712COL6A3c.1192A>C (p.Ile398Leu)
c.1810A>C (p.Ile604Leu)
c.589A>C (p.Ile197Leu)
c.92-3658A>C (n.92-3658A>C)
 dbSNP
2g.237381002T=CA1337627223COL6A3c.1192A= (p.Ile398=)
c.1810A= (p.Ile604=)
c.589A= (p.Ile197=)
c.92-3658A= (n.92-3658A=)
2g.237381003G>ACA431712472COL6A3c.1191C>T (p.Phe397=)
c.1809C>T (p.Phe603=)
c.588C>T (p.Phe196=)
c.92-3659C>T (n.92-3659C>T)
2g.237381003G>CCA351216714COL6A3c.1191C>G (p.Phe397Leu)
c.1809C>G (p.Phe603Leu)
c.588C>G (p.Phe196Leu)
c.92-3659C>G (n.92-3659C>G)
 gnomAD v4
2g.237381003G>TCA351216721COL6A3c.1191C>A (p.Phe397Leu)
c.1809C>A (p.Phe603Leu)
c.588C>A (p.Phe196Leu)
c.92-3659C>A (n.92-3659C>A)
2g.237381004A>CCA351216724COL6A3c.1190T>G (p.Phe397Cys)
c.1808T>G (p.Phe603Cys)
c.587T>G (p.Phe196Cys)
c.92-3660T>G (n.92-3660T>G)
2g.237381004A>GCA351216727COL6A3c.1190T>C (p.Phe397Ser)
c.1808T>C (p.Phe603Ser)
c.587T>C (p.Phe196Ser)
c.92-3660T>C (n.92-3660T>C)
2g.237381004A>TCA351216728COL6A3c.1190T>A (p.Phe397Tyr)
c.1808T>A (p.Phe603Tyr)
c.587T>A (p.Phe196Tyr)
c.92-3660T>A (n.92-3660T>A)
2g.237381005A>CCA351216730COL6A3c.1189T>G (p.Phe397Val)
c.1807T>G (p.Phe603Val)
c.586T>G (p.Phe196Val)
c.92-3661T>G (n.92-3661T>G)
2g.237381005A>GCA351216731COL6A3c.1189T>C (p.Phe397Leu)
c.1807T>C (p.Phe603Leu)
c.586T>C (p.Phe196Leu)
c.92-3661T>C (n.92-3661T>C)
2g.237381005A>TCA351216729COL6A3c.1189T>A (p.Phe397Ile)
c.1807T>A (p.Phe603Ile)
c.586T>A (p.Phe196Ile)
c.92-3661T>A (n.92-3661T>A)

Number of alleles fetched