Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.46125794_46125801delCA2654974006COL6A2c.1979_1986del (p.Val660GlyfsTer10)
c.650_657del (p.Val217GlyfsTer10)
n.2056_2063del
n.2063_2070del
 gnomAD v4
21g.46125798C>ACA513170560COL6A2c.1983C>A (p.Gly661=)
c.654C>A (p.Gly218=)
n.2060C>A
n.2067C>A
21g.46125798C=CA2392507573COL6A2c.1983C= (p.Gly661=)
c.654C= (p.Gly218=)
n.2060C=
n.2067C=
21g.46125798C>GCA513170559COL6A2c.1983C>G (p.Gly661=)
c.654C>G (p.Gly218=)
n.2060C>G
n.2067C>G
21g.46125798C>TCA10072404COL6A2c.1983C>T (p.Gly661=)
c.654C>T (p.Gly218=)
n.2060C>T
n.2067C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125799G>ACA10072405COL6A2c.1984G>A (p.Val662Met)
c.655G>A (p.Val219Met)
n.2061G>A
n.2068G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
21g.46125799G>CCA410539576COL6A2c.1984G>C (p.Val662Leu)
c.655G>C (p.Val219Leu)
n.2061G>C
n.2068G>C
21g.46125799G=CA2392507574COL6A2c.1984G= (p.Val662=)
c.655G= (p.Val219=)
n.2061G=
n.2068G=
21g.46125799G>TCA410539577COL6A2c.1984G>T (p.Val662Leu)
c.655G>T (p.Val219Leu)
n.2061G>T
n.2068G>T
 dbSNP gnomAD v2 gnomAD v4
21g.46125800T>ACA410539581COL6A2c.1985T>A (p.Val662Glu)
c.656T>A (p.Val219Glu)
n.2062T>A
n.2069T>A
21g.46125800T>CCA321972576COL6A2c.1985T>C (p.Val662Ala)
c.656T>C (p.Val219Ala)
n.2062T>C
n.2069T>C
 dbSNP gnomAD v4
21g.46125800T>GCA410539582COL6A2c.1985T>G (p.Val662Gly)
c.656T>G (p.Val219Gly)
n.2062T>G
n.2069T>G
21g.46125800T=CA2392507575COL6A2c.1985T= (p.Val662=)
c.656T= (p.Val219=)
n.2062T=
n.2069T=
21g.46125801G>ACA513170561COL6A2c.1986G>A (p.Val662=)
c.657G>A (p.Val219=)
n.2063G>A
n.2070G>A
 gnomAD v4
21g.46125801G>CCA513170563COL6A2c.1986G>C (p.Val662=)
c.657G>C (p.Val219=)
n.2063G>C
n.2070G>C
21g.46125801G>TCA513170562COL6A2c.1986G>T (p.Val662=)
c.657G>T (p.Val219=)
n.2063G>T
n.2070G>T
21g.46125802G>ACA410539587COL6A2c.1987G>A (p.Val663Met)
c.658G>A (p.Val220Met)
n.2064G>A
n.2071G>A
 ClinVar dbSNP gnomAD v4
21g.46125802G>CCA410539592COL6A2c.1987G>C (p.Val663Leu)
c.658G>C (p.Val220Leu)
n.2064G>C
n.2071G>C
 gnomAD v4
21g.46125802G>TCA410539589COL6A2c.1987G>T (p.Val663Leu)
c.658G>T (p.Val220Leu)
n.2064G>T
n.2071G>T
21g.46125803T>ACA410539595COL6A2c.1988T>A (p.Val663Glu)
c.659T>A (p.Val220Glu)
n.2065T>A
n.2072T>A
21g.46125803T>CCA410539600COL6A2c.1988T>C (p.Val663Ala)
c.659T>C (p.Val220Ala)
n.2065T>C
n.2072T>C
21g.46125803T>GCA410539596COL6A2c.1988T>G (p.Val663Gly)
c.659T>G (p.Val220Gly)
n.2065T>G
n.2072T>G
21g.46125804G>ACA321972578COL6A2c.1989G>A (p.Val663=)
c.660G>A (p.Val220=)
n.2066G>A
n.2073G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46125804G>CCA513170564COL6A2c.1989G>C (p.Val663=)
c.660G>C (p.Val220=)
n.2066G>C
n.2073G>C
21g.46125804G=CA2392507576COL6A2c.1989G= (p.Val663=)
c.660G= (p.Val220=)
n.2066G=
n.2073G=
21g.46125804G>TCA513170565COL6A2c.1989G>T (p.Val663=)
c.660G>T (p.Val220=)
n.2066G>T
n.2073G>T
21g.46125805C>ACA410539604COL6A2c.1990C>A (p.Gln664Lys)
c.661C>A (p.Gln221Lys)
n.2067C>A
n.2074C>A
21g.46125805C=CA2392507577COL6A2c.1990C= (p.Gln664=)
c.661C= (p.Gln221=)
n.2067C=
n.2074C=
21g.46125805C>GCA410539605COL6A2c.1990C>G (p.Gln664Glu)
c.661C>G (p.Gln221Glu)
n.2067C>G
n.2074C>G
21g.46125805C>TCA410539608COL6A2c.1990C>T (p.Gln664Ter)
c.661C>T (p.Gln221Ter)
n.2067C>T
n.2074C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.46125806A=CA2392507578COL6A2c.1991A= (p.Gln664=)
c.662A= (p.Gln221=)
n.2068A=
n.2075A=
21g.46125806A>CCA410539611COL6A2c.1991A>C (p.Gln664Pro)
c.662A>C (p.Gln221Pro)
n.2068A>C
n.2075A>C
 dbSNP
21g.46125806A>GCA410539613COL6A2c.1991A>G (p.Gln664Arg)
c.662A>G (p.Gln221Arg)
n.2068A>G
n.2075A>G
21g.46125806A>TCA410539615COL6A2c.1991A>T (p.Gln664Leu)
c.662A>T (p.Gln221Leu)
n.2068A>T
n.2075A>T
21g.46125807G>ACA513170566COL6A2c.1992G>A (p.Gln664=)
c.663G>A (p.Gln221=)
n.2069G>A
n.2076G>A
 gnomAD v4
21g.46125807G>CCA410539620COL6A2c.1992G>C (p.Gln664His)
c.663G>C (p.Gln221His)
n.2069G>C
n.2076G>C
 gnomAD v4
21g.46125807G>TCA410539623COL6A2c.1992G>T (p.Gln664His)
c.663G>T (p.Gln221His)
n.2069G>T
n.2076G>T
21g.46125808T>ACA410539626COL6A2c.1993T>A (p.Tyr665Asn)
c.664T>A (p.Tyr222Asn)
n.2070T>A
n.2077T>A
21g.46125808T>CCA410539629COL6A2c.1993T>C (p.Tyr665His)
c.664T>C (p.Tyr222His)
n.2070T>C
n.2077T>C
21g.46125808T>GCA410539632COL6A2c.1993T>G (p.Tyr665Asp)
c.664T>G (p.Tyr222Asp)
n.2070T>G
n.2077T>G
21g.46125809A>CCA410539642COL6A2c.1994A>C (p.Tyr665Ser)
c.665A>C (p.Tyr222Ser)
n.2071A>C
n.2078A>C
21g.46125809A>GCA410539640COL6A2c.1994A>G (p.Tyr665Cys)
c.665A>G (p.Tyr222Cys)
n.2071A>G
n.2078A>G
 gnomAD v4
21g.46125809A>TCA410539636COL6A2c.1994A>T (p.Tyr665Phe)
c.665A>T (p.Tyr222Phe)
n.2071A>T
n.2078A>T
21g.46125810C>ACA410539647COL6A2c.1995C>A (p.Tyr665Ter)
c.666C>A (p.Tyr222Ter)
n.2072C>A
n.2079C>A
21g.46125810C=CA2392507579COL6A2c.1995C= (p.Tyr665=)
c.666C= (p.Tyr222=)
n.2072C=
n.2079C=
21g.46125810C>GCA410539650COL6A2c.1995C>G (p.Tyr665Ter)
c.666C>G (p.Tyr222Ter)
n.2072C>G
n.2079C>G
21g.46125810C>TCA321972580COL6A2c.1995C>T (p.Tyr665=)
c.666C>T (p.Tyr222=)
n.2072C>T
n.2079C>T
 dbSNP gnomAD v2 gnomAD v4
21g.46125811delCA2654974007COL6A2c.1996del (p.Ser666AlafsTer?)
c.667del (p.Ser223AlafsTer?)
n.2073del
n.2080del
 gnomAD v4
21g.46125811A>CCA410539653COL6A2c.1996A>C (p.Ser666Arg)
c.667A>C (p.Ser223Arg)
n.2073A>C
n.2080A>C
21g.46125811A>GCA410539655COL6A2c.1996A>G (p.Ser666Gly)
c.667A>G (p.Ser223Gly)
n.2073A>G
n.2080A>G
21g.46125811A>TCA410539657COL6A2c.1996A>T (p.Ser666Cys)
c.667A>T (p.Ser223Cys)
n.2073A>T
n.2080A>T
21g.46125812G>ACA236432COL6A2c.1997G>A (p.Ser666Asn)
c.668G>A (p.Ser223Asn)
n.2074G>A
n.2081G>A
 ClinVar dbSNP
21g.46125812G>CCA410539668COL6A2c.1997G>C (p.Ser666Thr)
c.668G>C (p.Ser223Thr)
n.2074G>C
n.2081G>C
21g.46125812G=CA2392507580COL6A2c.1997G= (p.Ser666=)
c.668G= (p.Ser223=)
n.2074G=
n.2081G=
21g.46125812G>TCA410539672COL6A2c.1997G>T (p.Ser666Ile)
c.668G>T (p.Ser223Ile)
n.2074G>T
n.2081G>T
21g.46125812_46125835delinsGCCACGAGGGCACCTTTGAGGCCACA2392507581COL6A2c.1997_2020delinsGCCACGAGGGCACCTTTGAGGCCA (p.Ser666=)
c.668_691delinsGCCACGAGGGCACCTTTGAGGCCA (p.Ser223=)
n.2074_2097delinsGCCACGAGGGCACCTTTGAGGCCA
n.2081_2104delinsGCCACGAGGGCACCTTTGAGGCCA
21g.46125813C>ACA410539676COL6A2c.1998C>A (p.Ser666Arg)
c.669C>A (p.Ser223Arg)
n.2075C>A
n.2082C>A
21g.46125813C=CA2392507583COL6A2c.1998C= (p.Ser666=)
c.669C= (p.Ser223=)
n.2075C=
n.2082C=
21g.46125813C>GCA221816COL6A2c.1998C>G (p.Ser666Arg)
c.669C>G (p.Ser223Arg)
n.2075C>G
n.2082C>G
 ClinVar dbSNP
21g.46125813C>TCA10072406COL6A2c.1998C>T (p.Ser666=)
c.669C>T (p.Ser223=)
n.2075C>T
n.2082C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46125813_46125835delCA2392507582COL6A2c.1998_2020del (p.His667ProfsTer?)
c.669_691del (p.His224ProfsTer?)
n.2075_2097del
n.2082_2104del
 dbSNP gnomAD v4
21g.46125814C>ACA410539690COL6A2c.1999C>A (p.His667Asn)
c.670C>A (p.His224Asn)
n.2076C>A
n.2083C>A
21g.46125814C>GCA410539688COL6A2c.1999C>G (p.His667Asp)
c.670C>G (p.His224Asp)
n.2076C>G
n.2083C>G
21g.46125814C>TCA410539685COL6A2c.1999C>T (p.His667Tyr)
c.670C>T (p.His224Tyr)
n.2076C>T
n.2083C>T
21g.46125815A=CA2392507584COL6A2c.2000A= (p.His667=)
c.671A= (p.His224=)
n.2077A=
n.2084A=
21g.46125815A>CCA410539693COL6A2c.2000A>C (p.His667Pro)
c.671A>C (p.His224Pro)
n.2077A>C
n.2084A>C
21g.46125815A>GCA410539694COL6A2c.2000A>G (p.His667Arg)
c.671A>G (p.His224Arg)
n.2077A>G
n.2084A>G
 ClinVar dbSNP gnomAD v2
21g.46125815A>TCA410539699COL6A2c.2000A>T (p.His667Leu)
c.671A>T (p.His224Leu)
n.2077A>T
n.2084A>T
21g.46125816C>ACA410539704COL6A2c.2001C>A (p.His667Gln)
c.672C>A (p.His224Gln)
n.2078C>A
n.2085C>A
 dbSNP
21g.46125816C=CA2392507585COL6A2c.2001C= (p.His667=)
c.672C= (p.His224=)
n.2078C=
n.2085C=
21g.46125816C>GCA410539708COL6A2c.2001C>G (p.His667Gln)
c.672C>G (p.His224Gln)
n.2078C>G
n.2085C>G
21g.46125816C>TCA10603897COL6A2c.2001C>T (p.His667=)
c.672C>T (p.His224=)
n.2078C>T
n.2085C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46125817G>ACA295279COL6A2c.2002G>A (p.Glu668Lys)
c.673G>A (p.Glu225Lys)
n.2079G>A
n.2086G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125817G>CCA410539716COL6A2c.2002G>C (p.Glu668Gln)
c.673G>C (p.Glu225Gln)
n.2079G>C
n.2086G>C
 COSMIC COSMIC COSMIC
21g.46125817G=CA2392507586COL6A2c.2002G= (p.Glu668=)
c.673G= (p.Glu225=)
n.2079G=
n.2086G=
21g.46125817G>TCA410539722COL6A2c.2002G>T (p.Glu668Ter)
c.673G>T (p.Glu225Ter)
n.2079G>T
n.2086G>T
 ClinVar dbSNP
21g.46125818A>CCA410539726COL6A2c.2003A>C (p.Glu668Ala)
c.674A>C (p.Glu225Ala)
n.2080A>C
n.2087A>C
21g.46125818A>GCA410539729COL6A2c.2003A>G (p.Glu668Gly)
c.674A>G (p.Glu225Gly)
n.2080A>G
n.2087A>G
21g.46125818A>TCA410539734COL6A2c.2003A>T (p.Glu668Val)
c.674A>T (p.Glu225Val)
n.2080A>T
n.2087A>T
21g.46125819G>ACA513170569COL6A2c.2004G>A (p.Glu668=)
c.675G>A (p.Glu225=)
n.2081G>A
n.2088G>A
 dbSNP gnomAD v4
21g.46125819G>CCA410539740COL6A2c.2004G>C (p.Glu668Asp)
c.675G>C (p.Glu225Asp)
n.2081G>C
n.2088G>C
 dbSNP gnomAD v3 gnomAD v4
21g.46125819G=CA2392507587COL6A2c.2004G= (p.Glu668=)
c.675G= (p.Glu225=)
n.2081G=
n.2088G=
21g.46125819G>TCA410539737COL6A2c.2004G>T (p.Glu668Asp)
c.675G>T (p.Glu225Asp)
n.2081G>T
n.2088G>T
21g.46125820G>ACA410539745COL6A2c.2005G>A (p.Gly669Ser)
c.676G>A (p.Gly226Ser)
n.2082G>A
n.2089G>A
 gnomAD v4
21g.46125820G>CCA410539749COL6A2c.2005G>C (p.Gly669Arg)
c.676G>C (p.Gly226Arg)
n.2082G>C
n.2089G>C
21g.46125820G>TCA410539754COL6A2c.2005G>T (p.Gly669Cys)
c.676G>T (p.Gly226Cys)
n.2082G>T
n.2089G>T
21g.46125821G>ACA410539756COL6A2c.2006G>A (p.Gly669Asp)
c.677G>A (p.Gly226Asp)
n.2083G>A
n.2090G>A
 dbSNP gnomAD v4
21g.46125821G>CCA410539758COL6A2c.2006G>C (p.Gly669Ala)
c.677G>C (p.Gly226Ala)
n.2083G>C
n.2090G>C
21g.46125821G=CA2392507588COL6A2c.2006G= (p.Gly669=)
c.677G= (p.Gly226=)
n.2083G=
n.2090G=
21g.46125821G>TCA410539763COL6A2c.2006G>T (p.Gly669Val)
c.677G>T (p.Gly226Val)
n.2083G>T
n.2090G>T
21g.46125822C>ACA513170571COL6A2c.2007C>A (p.Gly669=)
c.678C>A (p.Gly226=)
n.2084C>A
n.2091C>A
 gnomAD v4
21g.46125822C=CA2392507589COL6A2c.2007C= (p.Gly669=)
c.678C= (p.Gly226=)
n.2084C=
n.2091C=
21g.46125822C>GCA513170572COL6A2c.2007C>G (p.Gly669=)
c.678C>G (p.Gly226=)
n.2084C>G
n.2091C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46125822C>TCA10072407COL6A2c.2007C>T (p.Gly669=)
c.678C>T (p.Gly226=)
n.2084C>T
n.2091C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46125823A=CA2392507590COL6A2c.2008A= (p.Thr670=)
c.679A= (p.Thr227=)
n.2085A=
n.2092A=
21g.46125823A>CCA410539769COL6A2c.2008A>C (p.Thr670Pro)
c.679A>C (p.Thr227Pro)
n.2085A>C
n.2092A>C
21g.46125823A>GCA10072408COL6A2c.2008A>G (p.Thr670Ala)
c.679A>G (p.Thr227Ala)
n.2085A>G
n.2092A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125823A>TCA410539772COL6A2c.2008A>T (p.Thr670Ser)
c.679A>T (p.Thr227Ser)
n.2085A>T
n.2092A>T
21g.46125824C>ACA10604812COL6A2c.2009C>A (p.Thr670Asn)
c.680C>A (p.Thr227Asn)
n.2086C>A
n.2093C>A
 ClinVar dbSNP
21g.46125824C=CA2392507591COL6A2c.2009C= (p.Thr670=)
c.680C= (p.Thr227=)
n.2086C=
n.2093C=
21g.46125824C>GCA410539776COL6A2c.2009C>G (p.Thr670Ser)
c.680C>G (p.Thr227Ser)
n.2086C>G
n.2093C>G
21g.46125824C>TCA410539779COL6A2c.2009C>T (p.Thr670Ile)
c.680C>T (p.Thr227Ile)
n.2086C>T
n.2093C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.46125824_46125832delinsCCTTTGAGGCA2392507592COL6A2c.2009_2017delinsCCTTTGAGG (p.Thr670=)
c.680_688delinsCCTTTGAGG (p.Thr227=)
n.2086_2094delinsCCTTTGAGG
n.2093_2101delinsCCTTTGAGG
21g.46125825C>ACA10072409COL6A2c.2010C>A (p.Thr670=)
c.681C>A (p.Thr227=)
n.2087C>A
n.2094C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125825C=CA2392507593COL6A2c.2010C= (p.Thr670=)
c.681C= (p.Thr227=)
n.2087C=
n.2094C=
21g.46125825C>GCA513170573COL6A2c.2010C>G (p.Thr670=)
c.681C>G (p.Thr227=)
n.2087C>G
n.2094C>G
 gnomAD v4
21g.46125825C>TCA513170574COL6A2c.2010C>T (p.Thr670=)
c.681C>T (p.Thr227=)
n.2087C>T
n.2094C>T
 dbSNP gnomAD v4
21g.46125826_46125833delCA638497894COL6A2c.2011_2018del (p.Phe671HisfsTer?)
c.682_689del (p.Phe228HisfsTer?)
n.2088_2095del
n.2095_2102del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46125826T>ACA410539785COL6A2c.2011T>A (p.Phe671Ile)
c.682T>A (p.Phe228Ile)
n.2088T>A
n.2095T>A
21g.46125826T>CCA410539783COL6A2c.2011T>C (p.Phe671Leu)
c.682T>C (p.Phe228Leu)
n.2088T>C
n.2095T>C
 ClinVar
21g.46125826T>GCA410539789COL6A2c.2011T>G (p.Phe671Val)
c.682T>G (p.Phe228Val)
n.2088T>G
n.2095T>G
21g.46125827T>ACA410539793COL6A2c.2012T>A (p.Phe671Tyr)
c.683T>A (p.Phe228Tyr)
n.2089T>A
n.2096T>A
21g.46125827T>CCA410539796COL6A2c.2012T>C (p.Phe671Ser)
c.683T>C (p.Phe228Ser)
n.2089T>C
n.2096T>C
21g.46125827T>GCA410539800COL6A2c.2012T>G (p.Phe671Cys)
c.683T>G (p.Phe228Cys)
n.2089T>G
n.2096T>G
21g.46125828T>ACA410539805COL6A2c.2013T>A (p.Phe671Leu)
c.684T>A (p.Phe228Leu)
n.2090T>A
n.2097T>A
21g.46125828T>CCA513170576COL6A2c.2013T>C (p.Phe671=)
c.684T>C (p.Phe228=)
n.2090T>C
n.2097T>C
21g.46125828T>GCA410539809COL6A2c.2013T>G (p.Phe671Leu)
c.684T>G (p.Phe228Leu)
n.2090T>G
n.2097T>G
21g.46125829G>ACA410539812COL6A2c.2014G>A (p.Glu672Lys)
c.685G>A (p.Glu229Lys)
n.2091G>A
n.2098G>A
21g.46125829G>CCA410539816COL6A2c.2014G>C (p.Glu672Gln)
c.685G>C (p.Glu229Gln)
n.2091G>C
n.2098G>C
 dbSNP gnomAD v2 gnomAD v4
21g.46125829G=CA2392507594COL6A2c.2014G= (p.Glu672=)
c.685G= (p.Glu229=)
n.2091G=
n.2098G=
21g.46125829G>TCA410539820COL6A2c.2014G>T (p.Glu672Ter)
c.685G>T (p.Glu229Ter)
n.2091G>T
n.2098G>T
21g.46125830A>CCA410539823COL6A2c.2015A>C (p.Glu672Ala)
c.686A>C (p.Glu229Ala)
n.2092A>C
n.2099A>C
 gnomAD v4
21g.46125830A>GCA410539825COL6A2c.2015A>G (p.Glu672Gly)
c.686A>G (p.Glu229Gly)
n.2092A>G
n.2099A>G
 gnomAD v4
21g.46125830A>TCA410539828COL6A2c.2015A>T (p.Glu672Val)
c.686A>T (p.Glu229Val)
n.2092A>T
n.2099A>T
21g.46125831G>ACA10072410COL6A2c.2016G>A (p.Glu672=)
c.687G>A (p.Glu229=)
n.2093G>A
n.2100G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125831G>CCA410539834COL6A2c.2016G>C (p.Glu672Asp)
c.687G>C (p.Glu229Asp)
n.2093G>C
n.2100G>C
21g.46125831G=CA2392507595COL6A2c.2016G= (p.Glu672=)
c.687G= (p.Glu229=)
n.2093G=
n.2100G=
21g.46125831G>TCA410539831COL6A2c.2016G>T (p.Glu672Asp)
c.687G>T (p.Glu229Asp)
n.2093G>T
n.2100G>T
21g.46125832G>ACA410539841COL6A2c.2017G>A (p.Ala673Thr)
c.688G>A (p.Ala230Thr)
n.2094G>A
n.2101G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46125832G>CCA410539844COL6A2c.2017G>C (p.Ala673Pro)
c.688G>C (p.Ala230Pro)
n.2094G>C
n.2101G>C
21g.46125832G=CA2392507596COL6A2c.2017G= (p.Ala673=)
c.688G= (p.Ala230=)
n.2094G=
n.2101G=
21g.46125832G>TCA410539847COL6A2c.2017G>T (p.Ala673Ser)
c.688G>T (p.Ala230Ser)
n.2094G>T
n.2101G>T
21g.46125833C>ACA10072411COL6A2c.2018C>A (p.Ala673Asp)
c.689C>A (p.Ala230Asp)
n.2095C>A
n.2102C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125833C=CA2392507597COL6A2c.2018C= (p.Ala673=)
c.689C= (p.Ala230=)
n.2095C=
n.2102C=
21g.46125833C>GCA410539853COL6A2c.2018C>G (p.Ala673Gly)
c.689C>G (p.Ala230Gly)
n.2095C>G
n.2102C>G
21g.46125833C>TCA321972609COL6A2c.2018C>T (p.Ala673Val)
c.689C>T (p.Ala230Val)
n.2095C>T
n.2102C>T
 dbSNP gnomAD v3 gnomAD v4
21g.46125834C>ACA513170578COL6A2c.2019C>A (p.Ala673=)
c.690C>A (p.Ala230=)
n.2096C>A
n.2103C>A
21g.46125834C=CA2392507598COL6A2c.2019C= (p.Ala673=)
c.690C= (p.Ala230=)
n.2096C=
n.2103C=
21g.46125834C>GCA513170579COL6A2c.2019C>G (p.Ala673=)
c.690C>G (p.Ala230=)
n.2096C>G
n.2103C>G
21g.46125834C>TCA10072412COL6A2c.2019C>T (p.Ala673=)
c.690C>T (p.Ala230=)
n.2096C>T
n.2103C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125835A=CA2392507599COL6A2c.2020A= (p.Ile674=)
c.691A= (p.Ile231=)
n.2097A=
n.2104A=
21g.46125835A>CCA410539857COL6A2c.2020A>C (p.Ile674Leu)
c.691A>C (p.Ile231Leu)
n.2097A>C
n.2104A>C
 dbSNP gnomAD v3 gnomAD v4
21g.46125835A>GCA410539858COL6A2c.2020A>G (p.Ile674Val)
c.691A>G (p.Ile231Val)
n.2097A>G
n.2104A>G
21g.46125835A>TCA410539861COL6A2c.2020A>T (p.Ile674Phe)
c.691A>T (p.Ile231Phe)
n.2097A>T
n.2104A>T
21g.46125836T>ACA410539862COL6A2c.2021T>A (p.Ile674Asn)
c.692T>A (p.Ile231Asn)
n.2098T>A
n.2105T>A
21g.46125836T>CCA10072413COL6A2c.2021T>C (p.Ile674Thr)
c.692T>C (p.Ile231Thr)
n.2098T>C
n.2105T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125836T>GCA410539868COL6A2c.2021T>G (p.Ile674Ser)
c.692T>G (p.Ile231Ser)
n.2098T>G
n.2105T>G
21g.46125836T=CA2392507600COL6A2c.2021T= (p.Ile674=)
c.692T= (p.Ile231=)
n.2098T=
n.2105T=
21g.46125837C>ACA513170583COL6A2c.2022C>A (p.Ile674=)
c.693C>A (p.Ile231=)
n.2099C>A
n.2106C>A
21g.46125837C=CA2392507601COL6A2c.2022C= (p.Ile674=)
c.693C= (p.Ile231=)
n.2099C=
n.2106C=
21g.46125837C>GCA410539876COL6A2c.2022C>G (p.Ile674Met)
c.693C>G (p.Ile231Met)
n.2099C>G
n.2106C>G
21g.46125837C>TCA10072414COL6A2c.2022C>T (p.Ile674=)
c.693C>T (p.Ile231=)
n.2099C>T
n.2106C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125838C>ACA410539880COL6A2c.2023C>A (p.Gln675Lys)
c.694C>A (p.Gln232Lys)
n.2100C>A
n.2107C>A
21g.46125838C=CA2392507602COL6A2c.2023C= (p.Gln675=)
c.694C= (p.Gln232=)
n.2100C=
n.2107C=
21g.46125838C>GCA410539882COL6A2c.2023C>G (p.Gln675Glu)
c.694C>G (p.Gln232Glu)
n.2100C>G
n.2107C>G
 gnomAD v4
21g.46125838C>TCA410539885COL6A2c.2023C>T (p.Gln675Ter)
c.694C>T (p.Gln232Ter)
n.2100C>T
n.2107C>T
 ClinVar dbSNP
21g.46125839A=CA2392507603COL6A2c.2024A= (p.Gln675=)
c.695A= (p.Gln232=)
n.2101A=
n.2108A=
21g.46125839A>CCA10072415COL6A2c.2024A>C (p.Gln675Pro)
c.695A>C (p.Gln232Pro)
n.2101A>C
n.2108A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125839A>GCA410539890COL6A2c.2024A>G (p.Gln675Arg)
c.695A>G (p.Gln232Arg)
n.2101A>G
n.2108A>G
 dbSNP gnomAD v2 gnomAD v4
21g.46125839A>TCA410539895COL6A2c.2024A>T (p.Gln675Leu)
c.695A>T (p.Gln232Leu)
n.2101A>T
n.2108A>T
21g.46125840G>ACA513170585COL6A2c.2025G>A (p.Gln675=)
c.696G>A (p.Gln232=)
n.2102G>A
n.2109G>A
21g.46125840G>CCA410539902COL6A2c.2025G>C (p.Gln675His)
c.696G>C (p.Gln232His)
n.2102G>C
n.2109G>C
21g.46125840G>TCA410539909COL6A2c.2025G>T (p.Gln675His)
c.696G>T (p.Gln232His)
n.2102G>T
n.2109G>T
 gnomAD v4
21g.46125841C>ACA410539911COL6A2c.2026C>A (p.Leu676Met)
c.697C>A (p.Leu233Met)
n.2103C>A
n.2110C>A
 gnomAD v4
21g.46125841C=CA2392507604COL6A2c.2026C= (p.Leu676=)
c.697C= (p.Leu233=)
n.2103C=
n.2110C=
21g.46125841C>GCA10072416COL6A2c.2026C>G (p.Leu676Val)
c.697C>G (p.Leu233Val)
n.2103C>G
n.2110C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46125841C>TCA513170588COL6A2c.2026C>T (p.Leu676=)
c.697C>T (p.Leu233=)
n.2103C>T
n.2110C>T
21g.46125842T>ACA410539919COL6A2c.2027T>A (p.Leu676Gln)
c.698T>A (p.Leu233Gln)
n.2104T>A
n.2111T>A
21g.46125842T>CCA410539923COL6A2c.2027T>C (p.Leu676Pro)
c.698T>C (p.Leu233Pro)
n.2104T>C
n.2111T>C
21g.46125842T>GCA410539928COL6A2c.2027T>G (p.Leu676Arg)
c.698T>G (p.Leu233Arg)
n.2104T>G
n.2111T>G
21g.46125843G>ACA513170591COL6A2c.2028G>A (p.Leu676=)
c.699G>A (p.Leu233=)
n.2105G>A
n.2112G>A
21g.46125843G>CCA513170590COL6A2c.2028G>C (p.Leu676=)
c.699G>C (p.Leu233=)
n.2105G>C
n.2112G>C
 dbSNP gnomAD v2 gnomAD v4
21g.46125843G=CA2392507605COL6A2c.2028G= (p.Leu676=)
c.699G= (p.Leu233=)
n.2105G=
n.2112G=
21g.46125843G>TCA513170589COL6A2c.2028G>T (p.Leu676=)
c.699G>T (p.Leu233=)
n.2105G>T
n.2112G>T
21g.46125844G>ACA410539941COL6A2c.2029G>A (p.Asp677Asn)
c.700G>A (p.Asp234Asn)
n.2106G>A
n.2113G>A
 gnomAD v4 COSMIC COSMIC COSMIC
21g.46125844G>CCA410539935COL6A2c.2029G>C (p.Asp677His)
c.700G>C (p.Asp234His)
n.2106G>C
n.2113G>C
21g.46125844G>TCA410539938COL6A2c.2029G>T (p.Asp677Tyr)
c.700G>T (p.Asp234Tyr)
n.2106G>T
n.2113G>T
 gnomAD v4
21g.46125845A=CA2392507606COL6A2c.2030A= (p.Asp677=)
c.701A= (p.Asp234=)
n.2107A=
n.2114A=
21g.46125845A>CCA410539945COL6A2c.2030A>C (p.Asp677Ala)
c.701A>C (p.Asp234Ala)
n.2107A>C
n.2114A>C
21g.46125845A>GCA410539946COL6A2c.2030A>G (p.Asp677Gly)
c.701A>G (p.Asp234Gly)
n.2107A>G
n.2114A>G
21g.46125845A>TCA410539954COL6A2c.2030A>T (p.Asp677Val)
c.701A>T (p.Asp234Val)
n.2107A>T
n.2114A>T
21g.46125845_46125846insTCA10072417COL6A2c.2030_2031insT (p.Asp678ArgfsTer?)
c.701_702insT (p.Asp235ArgfsTer?)
n.2107_2108insT
n.2114_2115insT
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46125846C>ACA410539967COL6A2c.2031C>A (p.Asp677Glu)
c.702C>A (p.Asp234Glu)
n.2108C>A
n.2115C>A
21g.46125846C=CA2392507607COL6A2c.2031C= (p.Asp677=)
c.702C= (p.Asp234=)
n.2108C=
n.2115C=
21g.46125846C>GCA410539968COL6A2c.2031C>G (p.Asp677Glu)
c.702C>G (p.Asp234Glu)
n.2108C>G
n.2115C>G
21g.46125846C>TCA10072418COL6A2c.2031C>T (p.Asp677=)
c.702C>T (p.Asp234=)
n.2108C>T
n.2115C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46125847G>ACA10072419COL6A2c.2032G>A (p.Asp678Asn)
c.703G>A (p.Asp235Asn)
n.2109G>A
n.2116G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46125847G>CCA410539991COL6A2c.2032G>C (p.Asp678His)
c.703G>C (p.Asp235His)
n.2109G>C
n.2116G>C
21g.46125847G=CA2392507608COL6A2c.2032G= (p.Asp678=)
c.703G= (p.Asp235=)
n.2109G=
n.2116G=
21g.46125847G>TCA410539992COL6A2c.2032G>T (p.Asp678Tyr)
c.703G>T (p.Asp235Tyr)
n.2109G>T
n.2116G>T
21g.46125848A>CCA410539993COL6A2c.2033A>C (p.Asp678Ala)
c.704A>C (p.Asp235Ala)
n.2110A>C
n.2117A>C
21g.46125848A>GCA410539994COL6A2c.2033A>G (p.Asp678Gly)
c.704A>G (p.Asp235Gly)
n.2110A>G
n.2117A>G
21g.46125848A>TCA410539997COL6A2c.2033A>T (p.Asp678Val)
c.704A>T (p.Asp235Val)
n.2110A>T
n.2117A>T
21g.46125849C>ACA410540007COL6A2c.2034C>A (p.Asp678Glu)
c.705C>A (p.Asp235Glu)
n.2111C>A
n.2118C>A
21g.46125849C=CA2392507609COL6A2c.2034C= (p.Asp678=)
c.705C= (p.Asp235=)
n.2111C=
n.2118C=
21g.46125849C>GCA410540012COL6A2c.2034C>G (p.Asp678Glu)
c.705C>G (p.Asp235Glu)
n.2111C>G
n.2118C>G
21g.46125849C>TCA10072420COL6A2c.2034C>T (p.Asp678=)
c.705C>T (p.Asp235=)
n.2111C>T
n.2118C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125850G>ACA10072421COL6A2c.2035G>A (p.Glu679Lys)
c.706G>A (p.Glu236Lys)
n.2112G>A
n.2119G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125850G>CCA410541274COL6A2c.2035G>C (p.Glu679Gln)
c.706G>C (p.Glu236Gln)
n.2112G>C
n.2119G>C
21g.46125850G=CA2392507610COL6A2c.2035G= (p.Glu679=)
c.706G= (p.Glu236=)
n.2112G=
n.2119G=
21g.46125850G>TCA410541278COL6A2c.2035G>T (p.Glu679Ter)
c.706G>T (p.Glu236Ter)
n.2112G>T
n.2119G>T
 gnomAD v4
21g.46125851A>CCA410541279COL6A2c.2036A>C (p.Glu679Ala)
c.707A>C (p.Glu236Ala)
n.2113A>C
n.2120A>C
21g.46125851A>GCA410541281COL6A2c.2036A>G (p.Glu679Gly)
c.707A>G (p.Glu236Gly)
n.2113A>G
n.2120A>G
21g.46125851A>TCA410541280COL6A2c.2036A>T (p.Glu679Val)
c.707A>T (p.Glu236Val)
n.2113A>T
n.2120A>T
21g.46125852A=CA2392507612COL6A2c.2037A= (p.Glu679=)
c.708A= (p.Glu236=)
n.2114A=
n.2121A=
21g.46125852A>CCA410541284COL6A2c.2037A>C (p.Glu679Asp)
c.708A>C (p.Glu236Asp)
n.2114A>C
n.2121A>C
21g.46125852A>GCA513170297COL6A2c.2037A>G (p.Glu679=)
c.708A>G (p.Glu236=)
n.2114A>G
n.2121A>G
 ClinVar dbSNP gnomAD v4
21g.46125852A>TCA410541285COL6A2c.2037A>T (p.Glu679Asp)
c.708A>T (p.Glu236Asp)
n.2114A>T
n.2121A>T
21g.46125852_46125854delinsACGCA2392507611COL6A2c.2037_2039delinsACG (p.Glu679=)
c.708_710delinsACG (p.Glu236=)
n.2114_2116delinsACG
n.2121_2123delinsACG
21g.46125853C>ACA410541287COL6A2c.2038C>A (p.Arg680Ser)
c.709C>A (p.Arg237Ser)
n.2115C>A
n.2122C>A
21g.46125853C=CA2392507613COL6A2c.2038C= (p.Arg680=)
c.709C= (p.Arg237=)
n.2115C=
n.2122C=
21g.46125853C>GCA410541289COL6A2c.2038C>G (p.Arg680Gly)
c.709C>G (p.Arg237Gly)
n.2115C>G
n.2122C>G
21g.46125853C>TCA10072422COL6A2c.2038C>T (p.Arg680Cys)
c.709C>T (p.Arg237Cys)
n.2115C>T
n.2122C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
21g.46125853_46125854delinsACA16621031COL6A2c.2038_2039delinsA (p.Arg680IlefsTer?)
c.709_710delinsA (p.Arg237IlefsTer?)
n.2115_2116delinsA
n.2122_2123delinsA
 ClinVar dbSNP
21g.46125854G>ACA147453COL6A2c.2039G>A (p.Arg680His)
c.710G>A (p.Arg237His)
n.2116G>A
n.2123G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125854G>CCA410541293COL6A2c.2039G>C (p.Arg680Pro)
c.710G>C (p.Arg237Pro)
n.2116G>C
n.2123G>C
21g.46125854G=CA2392507614COL6A2c.2039G= (p.Arg680=)
c.710G= (p.Arg237=)
n.2116G=
n.2123G=
21g.46125854G>TCA321972632COL6A2c.2039G>T (p.Arg680Leu)
c.710G>T (p.Arg237Leu)
n.2116G>T
n.2123G>T
 dbSNP gnomAD v3 gnomAD v4
21g.46125855T>ACA513170299COL6A2c.2040T>A (p.Arg680=)
c.711T>A (p.Arg237=)
n.2117T>A
n.2124T>A
21g.46125855T>CCA513170300COL6A2c.2040T>C (p.Arg680=)
c.711T>C (p.Arg237=)
n.2117T>C
n.2124T>C
 dbSNP gnomAD v4
21g.46125855T>GCA513170301COL6A2c.2040T>G (p.Arg680=)
c.711T>G (p.Arg237=)
n.2117T>G
n.2124T>G
21g.46125855T=CA2392507615COL6A2c.2040T= (p.Arg680=)
c.711T= (p.Arg237=)
n.2117T=
n.2124T=
21g.46125855dupCA10588991COL6A2c.2040dup (p.Ile681TyrfsTer?)
c.711dup (p.Ile238TyrfsTer?)
n.2117dup
n.2124dup
 ClinVar dbSNP gnomAD v4
21g.46125856A>CCA410541296COL6A2c.2041A>C (p.Ile681Leu)
c.712A>C (p.Ile238Leu)
n.2118A>C
n.2125A>C
21g.46125856A>GCA410541298COL6A2c.2041A>G (p.Ile681Val)
c.712A>G (p.Ile238Val)
n.2118A>G
n.2125A>G
 gnomAD v4 COSMIC COSMIC COSMIC
21g.46125856A>TCA410541299COL6A2c.2041A>T (p.Ile681Phe)
c.712A>T (p.Ile238Phe)
n.2118A>T
n.2125A>T
21g.46125857T>ACA410541306COL6A2c.2042T>A (p.Ile681Asn)
c.713T>A (p.Ile238Asn)
n.2119T>A
n.2126T>A
21g.46125857T>CCA410541302COL6A2c.2042T>C (p.Ile681Thr)
c.713T>C (p.Ile238Thr)
n.2119T>C
n.2126T>C
 gnomAD v4
21g.46125857T>GCA410541304COL6A2c.2042T>G (p.Ile681Ser)
c.713T>G (p.Ile238Ser)
n.2119T>G
n.2126T>G
21g.46125858C>ACA513170305COL6A2c.2043C>A (p.Ile681=)
c.714C>A (p.Ile238=)
n.2120C>A
n.2127C>A
21g.46125858C=CA2392507616COL6A2c.2043C= (p.Ile681=)
c.714C= (p.Ile238=)
n.2120C=
n.2127C=
21g.46125858C>GCA10072424COL6A2c.2043C>G (p.Ile681Met)
c.714C>G (p.Ile238Met)
n.2120C>G
n.2127C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46125858C>TCA10072423COL6A2c.2043C>T (p.Ile681=)
c.714C>T (p.Ile238=)
n.2120C>T
n.2127C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125859G>ACA10072425COL6A2c.2044G>A (p.Asp682Asn)
c.715G>A (p.Asp239Asn)
n.2121G>A
n.2128G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125859G>CCA10072426COL6A2c.2044G>C (p.Asp682His)
c.715G>C (p.Asp239His)
n.2121G>C
n.2128G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125859G=CA2392507617COL6A2c.2044G= (p.Asp682=)
c.715G= (p.Asp239=)
n.2121G=
n.2128G=
21g.46125859G>TCA410541313COL6A2c.2044G>T (p.Asp682Tyr)
c.715G>T (p.Asp239Tyr)
n.2121G>T
n.2128G>T
21g.46125860A=CA2392507618COL6A2c.2045A= (p.Asp682=)
c.716A= (p.Asp239=)
n.2122A=
n.2129A=
21g.46125860A>CCA410541314COL6A2c.2045A>C (p.Asp682Ala)
c.716A>C (p.Asp239Ala)
n.2122A>C
n.2129A>C
 dbSNP gnomAD v3 gnomAD v4
21g.46125860A>GCA410541316COL6A2c.2045A>G (p.Asp682Gly)
c.716A>G (p.Asp239Gly)
n.2122A>G
n.2129A>G
21g.46125860A>TCA410541318COL6A2c.2045A>T (p.Asp682Val)
c.716A>T (p.Asp239Val)
n.2122A>T
n.2129A>T
21g.46125861C>ACA410541319COL6A2c.2046C>A (p.Asp682Glu)
c.717C>A (p.Asp239Glu)
n.2123C>A
n.2130C>A
21g.46125861C=CA2392507619COL6A2c.2046C= (p.Asp682=)
c.717C= (p.Asp239=)
n.2123C=
n.2130C=
21g.46125861C>GCA410541320COL6A2c.2046C>G (p.Asp682Glu)
c.717C>G (p.Asp239Glu)
n.2123C>G
n.2130C>G
 dbSNP gnomAD v3 gnomAD v4
21g.46125861C>TCA513170308COL6A2c.2046C>T (p.Asp682=)
c.717C>T (p.Asp239=)
n.2123C>T
n.2130C>T
 dbSNP gnomAD v3 gnomAD v4
21g.46125862T>ACA410541324COL6A2c.2047T>A (p.Ser683Thr)
c.718T>A (p.Ser240Thr)
n.2124T>A
n.2131T>A
21g.46125862T>CCA410541325COL6A2c.2047T>C (p.Ser683Pro)
c.718T>C (p.Ser240Pro)
n.2124T>C
n.2131T>C
 ClinVar
21g.46125862T>GCA410541323COL6A2c.2047T>G (p.Ser683Ala)
c.718T>G (p.Ser240Ala)
n.2124T>G
n.2131T>G
21g.46125863C>ACA410541328COL6A2c.2048C>A (p.Ser683Tyr)
c.719C>A (p.Ser240Tyr)
n.2125C>A
n.2132C>A
21g.46125863C=CA2392507620COL6A2c.2048C= (p.Ser683=)
c.719C= (p.Ser240=)
n.2125C=
n.2132C=
21g.46125863C>GCA410541329COL6A2c.2048C>G (p.Ser683Cys)
c.719C>G (p.Ser240Cys)
n.2125C>G
n.2132C>G
21g.46125863C>TCA410541331COL6A2c.2048C>T (p.Ser683Phe)
c.719C>T (p.Ser240Phe)
n.2125C>T
n.2132C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
21g.46125864C>ACA513170312COL6A2c.2049C>A (p.Ser683=)
c.720C>A (p.Ser240=)
n.2126C>A
n.2133C>A
21g.46125864C=CA2392507621COL6A2c.2049C= (p.Ser683=)
c.720C= (p.Ser240=)
n.2126C=
n.2133C=
21g.46125864C>GCA513170313COL6A2c.2049C>G (p.Ser683=)
c.720C>G (p.Ser240=)
n.2126C>G
n.2133C>G
21g.46125864C>TCA513170314COL6A2c.2049C>T (p.Ser683=)
c.720C>T (p.Ser240=)
n.2126C>T
n.2133C>T
 dbSNP
21g.46125865C>ACA410541333COL6A2c.2050C>A (p.Leu684Met)
c.721C>A (p.Leu241Met)
n.2127C>A
n.2134C>A
21g.46125865C>GCA410541335COL6A2c.2050C>G (p.Leu684Val)
c.721C>G (p.Leu241Val)
n.2127C>G
n.2134C>G
21g.46125865C>TCA513170317COL6A2c.2050C>T (p.Leu684=)
c.721C>T (p.Leu241=)
n.2127C>T
n.2134C>T
 gnomAD v4
21g.46125865_46125866delCA2577630030COL6A2c.2050_2051del (p.Leu684ValfsTer?)
c.721_722del (p.Leu241ValfsTer?)
n.2127_2128del
n.2134_2135del
21g.46125866T>ACA410541337COL6A2c.2051T>A (p.Leu684Gln)
c.722T>A (p.Leu241Gln)
n.2128T>A
n.2135T>A
21g.46125866T>CCA410541338COL6A2c.2051T>C (p.Leu684Pro)
c.722T>C (p.Leu241Pro)
n.2128T>C
n.2135T>C
 dbSNP gnomAD v3 gnomAD v4
21g.46125866T>GCA410541340COL6A2c.2051T>G (p.Leu684Arg)
c.722T>G (p.Leu241Arg)
n.2128T>G
n.2135T>G
 dbSNP gnomAD v2 gnomAD v4
21g.46125866T=CA2392507622COL6A2c.2051T= (p.Leu684=)
c.722T= (p.Leu241=)
n.2128T=
n.2135T=
21g.46125867G>ACA10072427COL6A2c.2052G>A (p.Leu684=)
c.723G>A (p.Leu241=)
n.2129G>A
n.2136G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125867G>CCA513170319COL6A2c.2052G>C (p.Leu684=)
c.723G>C (p.Leu241=)
n.2129G>C
n.2136G>C
21g.46125867G=CA2392507623COL6A2c.2052G= (p.Leu684=)
c.723G= (p.Leu241=)
n.2129G=
n.2136G=
21g.46125867G>TCA513170320COL6A2c.2052G>T (p.Leu684=)
c.723G>T (p.Leu241=)
n.2129G>T
n.2136G>T
21g.46125868T>ACA410541343COL6A2c.2053T>A (p.Ser685Thr)
c.724T>A (p.Ser242Thr)
n.2130T>A
n.2137T>A
21g.46125868T>CCA410541344COL6A2c.2053T>C (p.Ser685Pro)
c.724T>C (p.Ser242Pro)
n.2130T>C
n.2137T>C
21g.46125868T>GCA410541345COL6A2c.2053T>G (p.Ser685Ala)
c.724T>G (p.Ser242Ala)
n.2130T>G
n.2137T>G
21g.46125869C>ACA410541349COL6A2c.2054C>A (p.Ser685Ter)
c.725C>A (p.Ser242Ter)
n.2131C>A
n.2138C>A
 dbSNP gnomAD v2 gnomAD v4
21g.46125869C=CA2392507624COL6A2c.2054C= (p.Ser685=)
c.725C= (p.Ser242=)
n.2131C=
n.2138C=
21g.46125869C>GCA410541347COL6A2c.2054C>G (p.Ser685Trp)
c.725C>G (p.Ser242Trp)
n.2131C>G
n.2138C>G
 ClinVar dbSNP
21g.46125869C>TCA321972637COL6A2c.2054C>T (p.Ser685Leu)
c.725C>T (p.Ser242Leu)
n.2131C>T
n.2138C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46125870G>ACA10072428COL6A2c.2055G>A (p.Ser685=)
c.726G>A (p.Ser242=)
n.2132G>A
n.2139G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46125870G>CCA513170321COL6A2c.2055G>C (p.Ser685=)
c.726G>C (p.Ser242=)
n.2132G>C
n.2139G>C
 gnomAD v4
21g.46125870G=CA2392507625COL6A2c.2055G= (p.Ser685=)
c.726G= (p.Ser242=)
n.2132G=
n.2139G=
21g.46125870G>TCA513170322COL6A2c.2055G>T (p.Ser685=)
c.726G>T (p.Ser242=)
n.2132G>T
n.2139G>T
21g.46125871A>CCA410541353COL6A2c.2056A>C (p.Ser686Arg)
c.727A>C (p.Ser243Arg)
n.2133A>C
n.2140A>C
 ClinVar
21g.46125871A>GCA410541355COL6A2c.2056A>G (p.Ser686Gly)
c.727A>G (p.Ser243Gly)
n.2133A>G
n.2140A>G
 gnomAD v4
21g.46125871A>TCA410541357COL6A2c.2056A>T (p.Ser686Cys)
c.727A>T (p.Ser243Cys)
n.2133A>T
n.2140A>T
21g.46125872G>ACA410541359COL6A2c.2057G>A (p.Ser686Asn)
c.728G>A (p.Ser243Asn)
n.2134G>A
n.2141G>A
 gnomAD v4
21g.46125872G>CCA410541361COL6A2c.2057G>C (p.Ser686Thr)
c.728G>C (p.Ser243Thr)
n.2134G>C
n.2141G>C
21g.46125872G>TCA410541363COL6A2c.2057G>T (p.Ser686Ile)
c.728G>T (p.Ser243Ile)
n.2134G>T
n.2141G>T
21g.46125873C>ACA410541365COL6A2c.2058C>A (p.Ser686Arg)
c.729C>A (p.Ser243Arg)
n.2135C>A
n.2142C>A
21g.46125873C=CA2392507626COL6A2c.2058C= (p.Ser686=)
c.729C= (p.Ser243=)
n.2135C=
n.2142C=
21g.46125873C>GCA410541367COL6A2c.2058C>G (p.Ser686Arg)
c.729C>G (p.Ser243Arg)
n.2135C>G
n.2142C>G
21g.46125873C>TCA10072429COL6A2c.2058C>T (p.Ser686=)
c.729C>T (p.Ser243=)
n.2135C>T
n.2142C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125874T>ACA410541370COL6A2c.2059T>A (p.Phe687Ile)
c.730T>A (p.Phe244Ile)
n.2136T>A
n.2143T>A
21g.46125874T>CCA410541371COL6A2c.2059T>C (p.Phe687Leu)
c.730T>C (p.Phe244Leu)
n.2136T>C
n.2143T>C
21g.46125874T>GCA410541372COL6A2c.2059T>G (p.Phe687Val)
c.730T>G (p.Phe244Val)
n.2136T>G
n.2143T>G
21g.46125875T>ACA410541376COL6A2c.2060T>A (p.Phe687Tyr)
c.731T>A (p.Phe244Tyr)
n.2137T>A
n.2144T>A
21g.46125875T>CCA10072430COL6A2c.2060T>C (p.Phe687Ser)
c.731T>C (p.Phe244Ser)
n.2137T>C
n.2144T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46125875T>GCA410541374COL6A2c.2060T>G (p.Phe687Cys)
c.731T>G (p.Phe244Cys)
n.2137T>G
n.2144T>G
21g.46125875T=CA2392507627COL6A2c.2060T= (p.Phe687=)
c.731T= (p.Phe244=)
n.2137T=
n.2144T=
21g.46125876C>ACA410541381COL6A2c.2061C>A (p.Phe687Leu)
c.732C>A (p.Phe244Leu)
n.2138C>A
n.2145C>A
21g.46125876C>GCA410541379COL6A2c.2061C>G (p.Phe687Leu)
c.732C>G (p.Phe244Leu)
n.2138C>G
n.2145C>G
21g.46125876C>TCA513170326COL6A2c.2061C>T (p.Phe687=)
c.732C>T (p.Phe244=)
n.2138C>T
n.2145C>T
 gnomAD v4
21g.46125877A>CCA410541383COL6A2c.2062A>C (p.Lys688Gln)
c.733A>C (p.Lys245Gln)
n.2139A>C
n.2146A>C
21g.46125877A>GCA410541384COL6A2c.2062A>G (p.Lys688Glu)
c.733A>G (p.Lys245Glu)
n.2139A>G
n.2146A>G
 gnomAD v4
21g.46125877A>TCA410541385COL6A2c.2062A>T (p.Lys688Ter)
c.733A>T (p.Lys245Ter)
n.2139A>T
n.2146A>T
21g.46125878A=CA2392507628COL6A2c.2063A= (p.Lys688=)
c.734A= (p.Lys245=)
n.2140A=
n.2147A=
21g.46125878A>CCA410541386COL6A2c.2063A>C (p.Lys688Thr)
c.734A>C (p.Lys245Thr)
n.2140A>C
n.2147A>C
21g.46125878A>GCA410541388COL6A2c.2063A>G (p.Lys688Arg)
c.734A>G (p.Lys245Arg)
n.2140A>G
n.2147A>G
 dbSNP gnomAD v3 gnomAD v4
21g.46125878A>TCA410541390COL6A2c.2063A>T (p.Lys688Met)
c.734A>T (p.Lys245Met)
n.2140A>T
n.2147A>T
21g.46125879G>ACA513170327COL6A2c.2064G>A (p.Lys688=)
c.735G>A (p.Lys245=)
n.2141G>A
n.2148G>A
 gnomAD v4
21g.46125879G>CCA10072431COL6A2c.2064G>C (p.Lys688Asn)
c.735G>C (p.Lys245Asn)
n.2141G>C
n.2148G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46125879G=CA2392507629COL6A2c.2064G= (p.Lys688=)
c.735G= (p.Lys245=)
n.2141G=
n.2148G=
21g.46125879G>TCA410541393COL6A2c.2064G>T (p.Lys688Asn)
c.735G>T (p.Lys245Asn)
n.2141G>T
n.2148G>T
21g.46125880G>ACA10072432COL6A2c.2065G>A (p.Glu689Lys)
c.736G>A (p.Glu246Lys)
n.2142G>A
n.2149G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125880G>CCA410541395COL6A2c.2065G>C (p.Glu689Gln)
c.736G>C (p.Glu246Gln)
n.2142G>C
n.2149G>C
21g.46125880G=CA2392507630COL6A2c.2065G= (p.Glu689=)
c.736G= (p.Glu246=)
n.2142G=
n.2149G=
21g.46125880G>TCA410541397COL6A2c.2065G>T (p.Glu689Ter)
c.736G>T (p.Glu246Ter)
n.2142G>T
n.2149G>T
21g.46125881A=CA2392507631COL6A2c.2066A= (p.Glu689=)
c.737A= (p.Glu246=)
n.2143A=
n.2150A=
21g.46125881A>CCA410541403COL6A2c.2066A>C (p.Glu689Ala)
c.737A>C (p.Glu246Ala)
n.2143A>C
n.2150A>C
 dbSNP
21g.46125881A>GCA410541400COL6A2c.2066A>G (p.Glu689Gly)
c.737A>G (p.Glu246Gly)
n.2143A>G
n.2150A>G
21g.46125881A>TCA410541402COL6A2c.2066A>T (p.Glu689Val)
c.737A>T (p.Glu246Val)
n.2143A>T
n.2150A>T
21g.46125882G>ACA513170331COL6A2c.2067G>A (p.Glu689=)
c.738G>A (p.Glu246=)
n.2144G>A
n.2151G>A
 dbSNP gnomAD v4
21g.46125882G>CCA410541406COL6A2c.2067G>C (p.Glu689Asp)
c.738G>C (p.Glu246Asp)
n.2144G>C
n.2151G>C
21g.46125882G=CA2392507632COL6A2c.2067G= (p.Glu689=)
c.738G= (p.Glu246=)
n.2144G=
n.2151G=
21g.46125882G>TCA410541408COL6A2c.2067G>T (p.Glu689Asp)
c.738G>T (p.Glu246Asp)
n.2144G>T
n.2151G>T
21g.46125883dupCA2654974008COL6A2c.2068dup (p.Ala690GlyfsTer?)
c.739dup (p.Ala247GlyfsTer?)
n.2145dup
n.2152dup
 gnomAD v4
21g.46125883G>ACA321972648COL6A2c.2068G>A (p.Ala690Thr)
c.739G>A (p.Ala247Thr)
n.2145G>A
n.2152G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46125883G>CCA410541410COL6A2c.2068G>C (p.Ala690Pro)
c.739G>C (p.Ala247Pro)
n.2145G>C
n.2152G>C
21g.46125883G=CA2392507633COL6A2c.2068G= (p.Ala690=)
c.739G= (p.Ala247=)
n.2145G=
n.2152G=
21g.46125883G>TCA410541412COL6A2c.2068G>T (p.Ala690Ser)
c.739G>T (p.Ala247Ser)
n.2145G>T
n.2152G>T
 gnomAD v4
21g.46125884C>ACA410541415COL6A2c.2069C>A (p.Ala690Asp)
c.740C>A (p.Ala247Asp)
n.2146C>A
n.2153C>A
21g.46125884C=CA2392507634COL6A2c.2069C= (p.Ala690=)
c.740C= (p.Ala247=)
n.2146C=
n.2153C=
21g.46125884C>GCA410541416COL6A2c.2069C>G (p.Ala690Gly)
c.740C>G (p.Ala247Gly)
n.2146C>G
n.2153C>G
 ClinVar dbSNP
21g.46125884C>TCA410541418COL6A2c.2069C>T (p.Ala690Val)
c.740C>T (p.Ala247Val)
n.2146C>T
n.2153C>T
 gnomAD v4
21g.46125885T>ACA513170335COL6A2c.2070T>A (p.Ala690=)
c.741T>A (p.Ala247=)
n.2147T>A
n.2154T>A
21g.46125885T>CCA10072433COL6A2c.2070T>C (p.Ala690=)
c.741T>C (p.Ala247=)
n.2147T>C
n.2154T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46125885T>GCA513170336COL6A2c.2070T>G (p.Ala690=)
c.741T>G (p.Ala247=)
n.2147T>G
n.2154T>G
 gnomAD v4
21g.46125885T=CA2392507635COL6A2c.2070T= (p.Ala690=)
c.741T= (p.Ala247=)
n.2147T=
n.2154T=
21g.46125886G>ACA410541422COL6A2c.2071G>A (p.Val691Ile)
c.742G>A (p.Val248Ile)
n.2148G>A
n.2155G>A
 dbSNP gnomAD v4
21g.46125886G>CCA410541424COL6A2c.2071G>C (p.Val691Leu)
c.742G>C (p.Val248Leu)
n.2148G>C
n.2155G>C
21g.46125886G=CA2392507636COL6A2c.2071G= (p.Val691=)
c.742G= (p.Val248=)
n.2148G=
n.2155G=
21g.46125886G>TCA410541425COL6A2c.2071G>T (p.Val691Phe)
c.742G>T (p.Val248Phe)
n.2148G>T
n.2155G>T
21g.46125887T>ACA410541427COL6A2c.2072T>A (p.Val691Asp)
c.743T>A (p.Val248Asp)
n.2149T>A
n.2156T>A
21g.46125887T>CCA410541429COL6A2c.2072T>C (p.Val691Ala)
c.743T>C (p.Val248Ala)
n.2149T>C
n.2156T>C
21g.46125887T>GCA410541426COL6A2c.2072T>G (p.Val691Gly)
c.743T>G (p.Val248Gly)
n.2149T>G
n.2156T>G
21g.46125888C>ACA513170340COL6A2c.2073C>A (p.Val691=)
c.744C>A (p.Val248=)
n.2150C>A
n.2157C>A
21g.46125888C=CA2392507637COL6A2c.2073C= (p.Val691=)
c.744C= (p.Val248=)
n.2150C=
n.2157C=
21g.46125888C>GCA10072434COL6A2c.2073C>G (p.Val691=)
c.744C>G (p.Val248=)
n.2150C>G
n.2157C>G
 dbSNP ExAC gnomAD v2
21g.46125888C>TCA513170341COL6A2c.2073C>T (p.Val691=)
c.744C>T (p.Val248=)
n.2150C>T
n.2157C>T
21g.46125888_46125891delinsCAAGCA2392507638COL6A2c.2073_2076delinsCAAG (p.Val691=)
c.744_747delinsCAAG (p.Val248=)
n.2150_2153delinsCAAG
n.2157_2160delinsCAAG
21g.46125889A=CA2392507639COL6A2c.2074A= (p.Lys692=)
c.745A= (p.Lys249=)
n.2151A=
n.2158A=
21g.46125889A>CCA410541431COL6A2c.2074A>C (p.Lys692Gln)
c.745A>C (p.Lys249Gln)
n.2151A>C
n.2158A>C
21g.46125889A>GCA321972651COL6A2c.2074A>G (p.Lys692Glu)
c.745A>G (p.Lys249Glu)
n.2151A>G
n.2158A>G
 dbSNP
21g.46125889A>TCA410541434COL6A2c.2074A>T (p.Lys692Ter)
c.745A>T (p.Lys249Ter)
n.2151A>T
n.2158A>T
21g.46125891_46125893delCA1139666904COL6A2c.2076_2078del (p.Lys692del)
c.747_749del (p.Lys249del)
n.2153_2155del
n.2160_2162del
 ClinVar dbSNP
21g.46125890A>CCA410541438COL6A2c.2075A>C (p.Lys692Thr)
c.746A>C (p.Lys249Thr)
n.2152A>C
n.2159A>C
21g.46125890A>GCA410541439COL6A2c.2075A>G (p.Lys692Arg)
c.746A>G (p.Lys249Arg)
n.2152A>G
n.2159A>G
 gnomAD v4
21g.46125890A>TCA410541441COL6A2c.2075A>T (p.Lys692Met)
c.746A>T (p.Lys249Met)
n.2152A>T
n.2159A>T
21g.46125891G>ACA10072435COL6A2c.2076G>A (p.Lys692=)
c.747G>A (p.Lys249=)
n.2153G>A
n.2160G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46125891G>CCA410541444COL6A2c.2076G>C (p.Lys692Asn)
c.747G>C (p.Lys249Asn)
n.2153G>C
n.2160G>C
21g.46125891G=CA2392507640COL6A2c.2076G= (p.Lys692=)
c.747G= (p.Lys249=)
n.2153G=
n.2160G=
21g.46125891G>TCA410541446COL6A2c.2076G>T (p.Lys692Asn)
c.747G>T (p.Lys249Asn)
n.2153G>T
n.2160G>T
21g.46125892A>CCA410541448COL6A2c.2077A>C (p.Asn693His)
c.748A>C (p.Asn250His)
n.2154A>C
n.2161A>C
21g.46125892A>GCA410541449COL6A2c.2077A>G (p.Asn693Asp)
c.748A>G (p.Asn250Asp)
n.2154A>G
n.2161A>G
21g.46125892A>TCA410541451COL6A2c.2077A>T (p.Asn693Tyr)
c.748A>T (p.Asn250Tyr)
n.2154A>T
n.2161A>T
21g.46125893A>CCA410541455COL6A2c.2078A>C (p.Asn693Thr)
c.749A>C (p.Asn250Thr)
n.2155A>C
n.2162A>C
21g.46125893A>GCA410541456COL6A2c.2078A>G (p.Asn693Ser)
c.749A>G (p.Asn250Ser)
n.2155A>G
n.2162A>G
21g.46125893A>TCA410541454COL6A2c.2078A>T (p.Asn693Ile)
c.749A>T (p.Asn250Ile)
n.2155A>T
n.2162A>T
21g.46125894C>ACA10072436COL6A2c.2079C>A (p.Asn693Lys)
c.750C>A (p.Asn250Lys)
n.2156C>A
n.2163C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46125894C=CA2392507641COL6A2c.2079C= (p.Asn693=)
c.750C= (p.Asn250=)
n.2156C=
n.2163C=
21g.46125894C>GCA410541458COL6A2c.2079C>G (p.Asn693Lys)
c.750C>G (p.Asn250Lys)
n.2156C>G
n.2163C>G
21g.46125894C>TCA513170343COL6A2c.2079C>T (p.Asn693=)
c.750C>T (p.Asn250=)
n.2156C>T
n.2163C>T
21g.46125895C>ACA410541460COL6A2c.2080C>A (p.Leu694Ile)
n.2157C>A
n.2164C>A
21g.46125895C>GCA410541461COL6A2c.2080C>G (p.Leu694Val)
n.2157C>G
n.2164C>G
 gnomAD v4
21g.46125895C>TCA410541463COL6A2c.2080C>T (p.Leu694Phe)
n.2157C>T
n.2164C>T
 gnomAD v4 COSMIC COSMIC COSMIC
21g.46125896T>ACA410541469COL6A2c.2081T>A (p.Leu694His)
n.2158T>A
n.2165T>A
21g.46125896T>CCA410541467COL6A2c.2081T>C (p.Leu694Pro)
n.2158T>C
n.2165T>C
21g.46125896T>GCA410541466COL6A2c.2081T>G (p.Leu694Arg)
n.2158T>G
n.2165T>G
21g.46125897C>ACA513170347COL6A2c.2082C>A (p.Leu694=)
n.2159C>A
n.2166C>A
21g.46125897C=CA2392507642COL6A2c.2082C= (p.Leu694=)
n.2159C=
n.2166C=
21g.46125897C>GCA513170348COL6A2c.2082C>G (p.Leu694=)
n.2159C>G
n.2166C>G
21g.46125897C>TCA10072437COL6A2c.2082C>T (p.Leu694=)
n.2159C>T
n.2166C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125897_46125898dupCA2573054956COL6A2c.2082_2083dup (p.Glu695AlafsTer?)
n.2159_2160dup
n.2166_2167dup
 ClinVar dbSNP
21g.46125898G>ACA10072438COL6A2c.2083G>A (p.Glu695Lys)
n.2160G>A
n.2167G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46125898G>CCA410541473COL6A2c.2083G>C (p.Glu695Gln)
n.2160G>C
n.2167G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
21g.46125898G=CA2392507643COL6A2c.2083G= (p.Glu695=)
n.2160G=
n.2167G=
21g.46125898G>TCA410541475COL6A2c.2083G>T (p.Glu695Ter)
n.2160G>T
n.2167G>T

Number of alleles fetched