Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49482665T>ACA1908760021ERCC6c.2169+22A>T (n.2169+22A>T)
n.2247+22A>T
c.2010+22A>T (n.2010+22A>T)
c.*561+22A>T (n.*561+22A>T)
c.279+22A>T (n.279+22A>T)
 dbSNP gnomAD v4
10g.49482665T>CCA5495754ERCC6c.2169+22A>G (n.2169+22A>G)
n.2247+22A>G
c.2010+22A>G (n.2010+22A>G)
c.*561+22A>G (n.*561+22A>G)
c.279+22A>G (n.279+22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482665T>GCA2721535468ERCC6c.2169+22A>C (n.2169+22A>C)
n.2247+22A>C
c.2010+22A>C (n.2010+22A>C)
c.*561+22A>C (n.*561+22A>C)
c.279+22A>C (n.279+22A>C)
 dbSNP
10g.49482665T=CA1908760019ERCC6c.2169+22A= (n.2169+22A=)
n.2247+22A=
c.2010+22A= (n.2010+22A=)
c.*561+22A= (n.*561+22A=)
c.279+22A= (n.279+22A=)
10g.49482666A=CA1908760027ERCC6c.2169+21T= (n.2169+21T=)
n.2247+21T=
c.2010+21T= (n.2010+21T=)
c.*561+21T= (n.*561+21T=)
c.279+21T= (n.279+21T=)
10g.49482666A>GCA593780670ERCC6c.2169+21T>C (n.2169+21T>C)
n.2247+21T>C
c.2010+21T>C (n.2010+21T>C)
c.*561+21T>C (n.*561+21T>C)
c.279+21T>C (n.279+21T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49482670T>CCA593780671ERCC6c.2169+17A>G (n.2169+17A>G)
n.2247+17A>G
c.2010+17A>G (n.2010+17A>G)
c.*561+17A>G (n.*561+17A>G)
c.279+17A>G (n.279+17A>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49482670T=CA1908760030ERCC6c.2169+17A= (n.2169+17A=)
n.2247+17A=
c.2010+17A= (n.2010+17A=)
c.*561+17A= (n.*561+17A=)
c.279+17A= (n.279+17A=)
10g.49482671C>ACA2609138488ERCC6c.2169+16G>T (n.2169+16G>T)
n.2247+16G>T
c.2010+16G>T (n.2010+16G>T)
c.*561+16G>T (n.*561+16G>T)
c.279+16G>T (n.279+16G>T)
 gnomAD v4
10g.49482671C=CA1908760035ERCC6c.2169+16G= (n.2169+16G=)
n.2247+16G=
c.2010+16G= (n.2010+16G=)
c.*561+16G= (n.*561+16G=)
c.279+16G= (n.279+16G=)
10g.49482671C>GCA593780672ERCC6c.2169+16G>C (n.2169+16G>C)
n.2247+16G>C
c.2010+16G>C (n.2010+16G>C)
c.*561+16G>C (n.*561+16G>C)
c.279+16G>C (n.279+16G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49482671C>TCA5495755ERCC6c.2169+16G>A (n.2169+16G>A)
n.2247+16G>A
c.2010+16G>A (n.2010+16G>A)
c.*561+16G>A (n.*561+16G>A)
c.279+16G>A (n.279+16G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482672A>TCA2609138501ERCC6c.2169+15T>A (n.2169+15T>A)
n.2247+15T>A
c.2010+15T>A (n.2010+15T>A)
c.*561+15T>A (n.*561+15T>A)
c.279+15T>A (n.279+15T>A)
 gnomAD v4
10g.49482674C=CA1908760038ERCC6c.2169+13G= (n.2169+13G=)
n.2247+13G=
c.2010+13G= (n.2010+13G=)
c.*561+13G= (n.*561+13G=)
c.279+13G= (n.279+13G=)
10g.49482674C>TCA1908760039ERCC6c.2169+13G>A (n.2169+13G>A)
n.2247+13G>A
c.2010+13G>A (n.2010+13G>A)
c.*561+13G>A (n.*561+13G>A)
c.279+13G>A (n.279+13G>A)
 ClinVar dbSNP gnomAD v4
10g.49482675C=CA1908760042ERCC6c.2169+12G= (n.2169+12G=)
n.2247+12G=
c.2010+12G= (n.2010+12G=)
c.*561+12G= (n.*561+12G=)
c.279+12G= (n.279+12G=)
10g.49482675C>GCA5495756ERCC6c.2169+12G>C (n.2169+12G>C)
n.2247+12G>C
c.2010+12G>C (n.2010+12G>C)
c.*561+12G>C (n.*561+12G>C)
c.279+12G>C (n.279+12G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482675C>TCA2739265371ERCC6c.2169+12G>A (n.2169+12G>A)
n.2247+12G>A
c.2010+12G>A (n.2010+12G>A)
c.*561+12G>A (n.*561+12G>A)
c.279+12G>A (n.279+12G>A)
 ClinVar
10g.49482676T>CCA2609138506ERCC6c.2169+11A>G (n.2169+11A>G)
n.2247+11A>G
c.2010+11A>G (n.2010+11A>G)
c.*561+11A>G (n.*561+11A>G)
c.279+11A>G (n.279+11A>G)
 gnomAD v4
10g.49482677A>GCA2697558382ERCC6c.2169+10T>C (n.2169+10T>C)
n.2247+10T>C
c.2010+10T>C (n.2010+10T>C)
c.*561+10T>C (n.*561+10T>C)
c.279+10T>C (n.279+10T>C)
 ClinVar
10g.49482680A=CA1908760047ERCC6c.2169+7T= (n.2169+7T=)
n.2247+7T=
c.2010+7T= (n.2010+7T=)
c.*561+7T= (n.*561+7T=)
c.279+7T= (n.279+7T=)
10g.49482680A>GCA1908760048ERCC6c.2169+7T>C (n.2169+7T>C)
n.2247+7T>C
c.2010+7T>C (n.2010+7T>C)
c.*561+7T>C (n.*561+7T>C)
c.279+7T>C (n.279+7T>C)
 dbSNP
10g.49482682T>ACA2721530995ERCC6c.2169+5A>T (n.2169+5A>T)
n.2247+5A>T
c.2010+5A>T (n.2010+5A>T)
c.*561+5A>T (n.*561+5A>T)
c.279+5A>T (n.279+5A>T)
 dbSNP
10g.49482682T>GCA206595678ERCC6c.2169+5A>C (n.2169+5A>C)
n.2247+5A>C
c.2010+5A>C (n.2010+5A>C)
c.*561+5A>C (n.*561+5A>C)
c.279+5A>C (n.279+5A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49482682T=CA1908760052ERCC6c.2169+5A= (n.2169+5A=)
n.2247+5A=
c.2010+5A= (n.2010+5A=)
c.*561+5A= (n.*561+5A=)
c.279+5A= (n.279+5A=)
10g.49482684T>CCA2609138541ERCC6c.2169+3A>G (n.2169+3A>G)
n.2247+3A>G
c.2010+3A>G (n.2010+3A>G)
c.*561+3A>G (n.*561+3A>G)
c.279+3A>G (n.279+3A>G)
 gnomAD v4
10g.49482685A>CCA376724114ERCC6c.2169+2T>G (n.2169+2T>G)
n.2247+2T>G
c.2010+2T>G (n.2010+2T>G)
c.*561+2T>G (n.*561+2T>G)
c.279+2T>G (n.279+2T>G)
10g.49482685A>GCA376724115ERCC6c.2169+2T>C (n.2169+2T>C)
n.2247+2T>C
c.2010+2T>C (n.2010+2T>C)
c.*561+2T>C (n.*561+2T>C)
c.279+2T>C (n.279+2T>C)
10g.49482685A>TCA376724116ERCC6c.2169+2T>A (n.2169+2T>A)
n.2247+2T>A
c.2010+2T>A (n.2010+2T>A)
c.*561+2T>A (n.*561+2T>A)
c.279+2T>A (n.279+2T>A)
10g.49482686C>ACA376724117ERCC6c.2169+1G>T (n.2169+1G>T)
n.2247+1G>T
c.2010+1G>T (n.2010+1G>T)
c.*561+1G>T (n.*561+1G>T)
c.279+1G>T (n.279+1G>T)
10g.49482686C=CA1908760064ERCC6c.2169+1G= (n.2169+1G=)
n.2247+1G=
c.2010+1G= (n.2010+1G=)
c.*561+1G= (n.*561+1G=)
c.279+1G= (n.279+1G=)
10g.49482686C>GCA376724118ERCC6c.2169+1G>C (n.2169+1G>C)
n.2247+1G>C
c.2010+1G>C (n.2010+1G>C)
c.*561+1G>C (n.*561+1G>C)
c.279+1G>C (n.279+1G>C)
10g.49482686C>TCA376724119ERCC6c.2169+1G>A (n.2169+1G>A)
n.2247+1G>A
c.2010+1G>A (n.2010+1G>A)
c.*561+1G>A (n.*561+1G>A)
c.279+1G>A (n.279+1G>A)
 ClinVar dbSNP
10g.49482687C>ACA376724120ERCC6c.2169G>T (p.Gln723His)
n.2247G>T
c.2010G>T (p.Gln670His)
c.*561G>T (n.*561G>T)
c.279G>T (p.Gln93His)
10g.49482687C>GCA376724121ERCC6c.2169G>C (p.Gln723His)
n.2247G>C
c.2010G>C (p.Gln670His)
c.*561G>C (n.*561G>C)
c.279G>C (p.Gln93His)
10g.49482687C>TCA469603968ERCC6c.2169G>A (p.Gln723=)
n.2247G>A
c.2010G>A (p.Gln670=)
c.*561G>A (n.*561G>A)
c.279G>A (p.Gln93=)
10g.49482688T>ACA376724123ERCC6c.2168A>T (p.Gln723Leu)
n.2246A>T
c.2009A>T (p.Gln670Leu)
c.*560A>T (n.*560A>T)
c.278A>T (p.Gln93Leu)
10g.49482688T>CCA5495757ERCC6c.2168A>G (p.Gln723Arg)
n.2246A>G
c.2009A>G (p.Gln670Arg)
c.*560A>G (n.*560A>G)
c.278A>G (p.Gln93Arg)
 dbSNP ExAC gnomAD v4
10g.49482688T>GCA376724122ERCC6c.2168A>C (p.Gln723Pro)
n.2246A>C
c.2009A>C (p.Gln670Pro)
c.*560A>C (n.*560A>C)
c.278A>C (p.Gln93Pro)
10g.49482688T=CA1908760070ERCC6c.2168A= (p.Gln723=)
n.2246A=
c.2009A= (p.Gln670=)
c.*560A= (n.*560A=)
c.278A= (p.Gln93=)
10g.49482689G>ACA274701ERCC6c.2167C>T (p.Gln723Ter)
n.2245C>T
c.2008C>T (p.Gln670Ter)
c.*559C>T (n.*559C>T)
c.277C>T (p.Gln93Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482689G>CCA376724124ERCC6c.2167C>G (p.Gln723Glu)
n.2245C>G
c.2008C>G (p.Gln670Glu)
c.*559C>G (n.*559C>G)
c.277C>G (p.Gln93Glu)
10g.49482689G=CA1908760080ERCC6c.2167C= (p.Gln723=)
n.2245C=
c.2008C= (p.Gln670=)
c.*559C= (n.*559C=)
c.277C= (p.Gln93=)
10g.49482689G>TCA376724125ERCC6c.2167C>A (p.Gln723Lys)
n.2245C>A
c.2008C>A (p.Gln670Lys)
c.*559C>A (n.*559C>A)
c.277C>A (p.Gln93Lys)
 dbSNP gnomAD v4
10g.49482690delCA2580081546ERCC6c.2166del (p.Gln723ArgfsTer16)
n.2244del
c.2007del (p.Gln670ArgfsTer16)
c.*558del (n.*558del)
c.276del (p.Gln93ArgfsTer16)
 ClinVar
10g.49482690T>ACA469603970ERCC6c.2166A>T (p.Val722=)
n.2244A>T
c.2007A>T (p.Val669=)
c.*558A>T (n.*558A>T)
c.276A>T (p.Val92=)
10g.49482690T>CCA469603969ERCC6c.2166A>G (p.Val722=)
n.2244A>G
c.2007A>G (p.Val669=)
c.*558A>G (n.*558A>G)
c.276A>G (p.Val92=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49482690T>GCA469603971ERCC6c.2166A>C (p.Val722=)
n.2244A>C
c.2007A>C (p.Val669=)
c.*558A>C (n.*558A>C)
c.276A>C (p.Val92=)
10g.49482690T=CA1908760090ERCC6c.2166A= (p.Val722=)
n.2244A=
c.2007A= (p.Val669=)
c.*558A= (n.*558A=)
c.276A= (p.Val92=)
10g.49482691A=CA1908760109ERCC6c.2165T= (p.Val722=)
n.2243T=
c.2006T= (p.Val669=)
c.*557T= (n.*557T=)
c.275T= (p.Val92=)
10g.49482691A>CCA376724126ERCC6c.2165T>G (p.Val722Gly)
n.2243T>G
c.2006T>G (p.Val669Gly)
c.*557T>G (n.*557T>G)
c.275T>G (p.Val92Gly)
10g.49482691A>GCA376724127ERCC6c.2165T>C (p.Val722Ala)
n.2243T>C
c.2006T>C (p.Val669Ala)
c.*557T>C (n.*557T>C)
c.275T>C (p.Val92Ala)
 dbSNP
10g.49482691A>TCA376724128ERCC6c.2165T>A (p.Val722Glu)
n.2243T>A
c.2006T>A (p.Val669Glu)
c.*557T>A (n.*557T>A)
c.275T>A (p.Val92Glu)
10g.49482692C>ACA376724129ERCC6c.2164G>T (p.Val722Leu)
n.2242G>T
c.2005G>T (p.Val669Leu)
c.*556G>T (n.*556G>T)
c.274G>T (p.Val92Leu)
10g.49482692C=CA1908760115ERCC6c.2164G= (p.Val722=)
n.2242G=
c.2005G= (p.Val669=)
c.*556G= (n.*556G=)
c.274G= (p.Val92=)
10g.49482692C>GCA376724130ERCC6c.2164G>C (p.Val722Leu)
n.2242G>C
c.2005G>C (p.Val669Leu)
c.*556G>C (n.*556G>C)
c.274G>C (p.Val92Leu)
 gnomAD v4
10g.49482692C>TCA5495758ERCC6c.2164G>A (p.Val722Ile)
n.2242G>A
c.2005G>A (p.Val669Ile)
c.*556G>A (n.*556G>A)
c.274G>A (p.Val92Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482693T>ACA469603973ERCC6c.2163A>T (p.Pro721=)
n.2241A>T
c.2004A>T (p.Pro668=)
c.*555A>T (n.*555A>T)
c.273A>T (p.Pro91=)
10g.49482693T>CCA5495759ERCC6c.2163A>G (p.Pro721=)
n.2241A>G
c.2004A>G (p.Pro668=)
c.*555A>G (n.*555A>G)
c.273A>G (p.Pro91=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482693T>GCA469603972ERCC6c.2163A>C (p.Pro721=)
n.2241A>C
c.2004A>C (p.Pro668=)
c.*555A>C (n.*555A>C)
c.273A>C (p.Pro91=)
10g.49482693T=CA1908760120ERCC6c.2163A= (p.Pro721=)
n.2241A=
c.2004A= (p.Pro668=)
c.*555A= (n.*555A=)
c.273A= (p.Pro91=)
10g.49482694G>ACA376724131ERCC6c.2162C>T (p.Pro721Leu)
n.2240C>T
c.2003C>T (p.Pro668Leu)
c.*554C>T (n.*554C>T)
c.272C>T (p.Pro91Leu)
 gnomAD v4
10g.49482694G>CCA376724132ERCC6c.2162C>G (p.Pro721Arg)
n.2240C>G
c.2003C>G (p.Pro668Arg)
c.*554C>G (n.*554C>G)
c.272C>G (p.Pro91Arg)
10g.49482694G>TCA376724133ERCC6c.2162C>A (p.Pro721Gln)
n.2240C>A
c.2003C>A (p.Pro668Gln)
c.*554C>A (n.*554C>A)
c.272C>A (p.Pro91Gln)
10g.49482695G>ACA376724135ERCC6c.2161C>T (p.Pro721Ser)
n.2239C>T
c.2002C>T (p.Pro668Ser)
c.*553C>T (n.*553C>T)
c.271C>T (p.Pro91Ser)
 dbSNP
10g.49482695G>CCA376724136ERCC6c.2161C>G (p.Pro721Ala)
n.2239C>G
c.2002C>G (p.Pro668Ala)
c.*553C>G (n.*553C>G)
c.271C>G (p.Pro91Ala)
10g.49482695G=CA1908760132ERCC6c.2161C= (p.Pro721=)
n.2239C=
c.2002C= (p.Pro668=)
c.*553C= (n.*553C=)
c.271C= (p.Pro91=)
10g.49482695G>TCA376724134ERCC6c.2161C>A (p.Pro721Thr)
n.2239C>A
c.2002C>A (p.Pro668Thr)
c.*553C>A (n.*553C>A)
c.271C>A (p.Pro91Thr)
10g.49482696G>ACA469603974ERCC6c.2160C>T (p.Ser720=)
n.2238C>T
c.2001C>T (p.Ser667=)
c.*552C>T (n.*552C>T)
c.270C>T (p.Ser90=)
10g.49482696G>CCA469603976ERCC6c.2160C>G (p.Ser720=)
n.2238C>G
c.2001C>G (p.Ser667=)
c.*552C>G (n.*552C>G)
c.270C>G (p.Ser90=)
 COSMIC
10g.49482696G>TCA469603975ERCC6c.2160C>A (p.Ser720=)
n.2238C>A
c.2001C>A (p.Ser667=)
c.*552C>A (n.*552C>A)
c.270C>A (p.Ser90=)
10g.49482697G>ACA376724137ERCC6c.2159C>T (p.Ser720Phe)
n.2237C>T
c.2000C>T (p.Ser667Phe)
c.*551C>T (n.*551C>T)
c.269C>T (p.Ser90Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49482697G>CCA376724138ERCC6c.2159C>G (p.Ser720Cys)
n.2237C>G
c.2000C>G (p.Ser667Cys)
c.*551C>G (n.*551C>G)
c.269C>G (p.Ser90Cys)
10g.49482697G=CA1908760135ERCC6c.2159C= (p.Ser720=)
n.2237C=
c.2000C= (p.Ser667=)
c.*551C= (n.*551C=)
c.269C= (p.Ser90=)
10g.49482697G>TCA376724139ERCC6c.2159C>A (p.Ser720Tyr)
n.2237C>A
c.2000C>A (p.Ser667Tyr)
c.*551C>A (n.*551C>A)
c.269C>A (p.Ser90Tyr)
10g.49482698A>CCA376724140ERCC6c.2158T>G (p.Ser720Ala)
n.2236T>G
c.1999T>G (p.Ser667Ala)
c.*550T>G (n.*550T>G)
c.268T>G (p.Ser90Ala)
10g.49482698A>GCA376724141ERCC6c.2158T>C (p.Ser720Pro)
n.2236T>C
c.1999T>C (p.Ser667Pro)
c.*550T>C (n.*550T>C)
c.268T>C (p.Ser90Pro)
10g.49482698A>TCA376724142ERCC6c.2158T>A (p.Ser720Thr)
n.2236T>A
c.1999T>A (p.Ser667Thr)
c.*550T>A (n.*550T>A)
c.268T>A (p.Ser90Thr)
10g.49482699A>CCA469603978ERCC6c.2157T>G (p.Ala719=)
n.2235T>G
c.1998T>G (p.Ala666=)
c.*549T>G (n.*549T>G)
c.267T>G (p.Ala89=)
10g.49482699A>GCA469603979ERCC6c.2157T>C (p.Ala719=)
n.2235T>C
c.1998T>C (p.Ala666=)
c.*549T>C (n.*549T>C)
c.267T>C (p.Ala89=)
10g.49482699A>TCA469603977ERCC6c.2157T>A (p.Ala719=)
n.2235T>A
c.1998T>A (p.Ala666=)
c.*549T>A (n.*549T>A)
c.267T>A (p.Ala89=)
10g.49482700G>ACA376724143ERCC6c.2156C>T (p.Ala719Val)
n.2234C>T
c.1997C>T (p.Ala666Val)
c.*548C>T (n.*548C>T)
c.266C>T (p.Ala89Val)
10g.49482700G>CCA376724145ERCC6c.2156C>G (p.Ala719Gly)
n.2234C>G
c.1997C>G (p.Ala666Gly)
c.*548C>G (n.*548C>G)
c.266C>G (p.Ala89Gly)
10g.49482700G>TCA376724144ERCC6c.2156C>A (p.Ala719Asp)
n.2234C>A
c.1997C>A (p.Ala666Asp)
c.*548C>A (n.*548C>A)
c.266C>A (p.Ala89Asp)
10g.49482701C>ACA376724146ERCC6c.2155G>T (p.Ala719Ser)
n.2233G>T
c.1996G>T (p.Ala666Ser)
c.*547G>T (n.*547G>T)
c.265G>T (p.Ala89Ser)
10g.49482701C=CA1908760137ERCC6c.2155G= (p.Ala719=)
n.2233G=
c.1996G= (p.Ala666=)
c.*547G= (n.*547G=)
c.265G= (p.Ala89=)
10g.49482701C>GCA376724147ERCC6c.2155G>C (p.Ala719Pro)
n.2233G>C
c.1996G>C (p.Ala666Pro)
c.*547G>C (n.*547G>C)
c.265G>C (p.Ala89Pro)
10g.49482701C>TCA376724148ERCC6c.2155G>A (p.Ala719Thr)
n.2233G>A
c.1996G>A (p.Ala666Thr)
c.*547G>A (n.*547G>A)
c.265G>A (p.Ala89Thr)
 dbSNP gnomAD v4
10g.49482702A>CCA376724149ERCC6c.2154T>G (p.Asn718Lys)
n.2232T>G
c.1995T>G (p.Asn665Lys)
c.*546T>G (n.*546T>G)
c.264T>G (p.Asn88Lys)
10g.49482702A>GCA469603980ERCC6c.2154T>C (p.Asn718=)
n.2232T>C
c.1995T>C (p.Asn665=)
c.*546T>C (n.*546T>C)
c.264T>C (p.Asn88=)
10g.49482702A>TCA376724150ERCC6c.2154T>A (p.Asn718Lys)
n.2232T>A
c.1995T>A (p.Asn665Lys)
c.*546T>A (n.*546T>A)
c.264T>A (p.Asn88Lys)
10g.49482703T>ACA376724152ERCC6c.2153A>T (p.Asn718Ile)
n.2231A>T
c.1994A>T (p.Asn665Ile)
c.*545A>T (n.*545A>T)
c.263A>T (p.Asn88Ile)
10g.49482703T>CCA376724153ERCC6c.2153A>G (p.Asn718Ser)
n.2231A>G
c.1994A>G (p.Asn665Ser)
c.*545A>G (n.*545A>G)
c.263A>G (p.Asn88Ser)
10g.49482703T>GCA376724151ERCC6c.2153A>C (p.Asn718Thr)
n.2231A>C
c.1994A>C (p.Asn665Thr)
c.*545A>C (n.*545A>C)
c.263A>C (p.Asn88Thr)
10g.49482704T>ACA376724154ERCC6c.2152A>T (p.Asn718Tyr)
n.2230A>T
c.1993A>T (p.Asn665Tyr)
c.*544A>T (n.*544A>T)
c.262A>T (p.Asn88Tyr)
10g.49482704T>CCA376724156ERCC6c.2152A>G (p.Asn718Asp)
n.2230A>G
c.1993A>G (p.Asn665Asp)
c.*544A>G (n.*544A>G)
c.262A>G (p.Asn88Asp)
 gnomAD v4
10g.49482704T>GCA376724155ERCC6c.2152A>C (p.Asn718His)
n.2230A>C
c.1993A>C (p.Asn665His)
c.*544A>C (n.*544A>C)
c.262A>C (p.Asn88His)
10g.49482705T>ACA469603981ERCC6c.2151A>T (p.Ser717=)
n.2229A>T
c.1992A>T (p.Ser664=)
c.*543A>T (n.*543A>T)
c.261A>T (p.Ser87=)
10g.49482705T>CCA469603982ERCC6c.2151A>G (p.Ser717=)
n.2229A>G
c.1992A>G (p.Ser664=)
c.*543A>G (n.*543A>G)
c.261A>G (p.Ser87=)
10g.49482705T>GCA469603983ERCC6c.2151A>C (p.Ser717=)
n.2229A>C
c.1992A>C (p.Ser664=)
c.*543A>C (n.*543A>C)
c.261A>C (p.Ser87=)
10g.49482706G>ACA376724157ERCC6c.2150C>T (p.Ser717Leu)
n.2228C>T
c.1991C>T (p.Ser664Leu)
c.*542C>T (n.*542C>T)
c.260C>T (p.Ser87Leu)
10g.49482706G>CCA376724158ERCC6c.2150C>G (p.Ser717Ter)
n.2228C>G
c.1991C>G (p.Ser664Ter)
c.*542C>G (n.*542C>G)
c.260C>G (p.Ser87Ter)
10g.49482706G>TCA376724159ERCC6c.2150C>A (p.Ser717Ter)
n.2228C>A
c.1991C>A (p.Ser664Ter)
c.*542C>A (n.*542C>A)
c.260C>A (p.Ser87Ter)
10g.49482707A>CCA376724160ERCC6c.2149T>G (p.Ser717Ala)
n.2227T>G
c.1990T>G (p.Ser664Ala)
c.*541T>G (n.*541T>G)
c.259T>G (p.Ser87Ala)
 gnomAD v4
10g.49482707A>GCA376724161ERCC6c.2149T>C (p.Ser717Pro)
n.2227T>C
c.1990T>C (p.Ser664Pro)
c.*541T>C (n.*541T>C)
c.259T>C (p.Ser87Pro)
10g.49482707A>TCA376724162ERCC6c.2149T>A (p.Ser717Thr)
n.2227T>A
c.1990T>A (p.Ser664Thr)
c.*541T>A (n.*541T>A)
c.259T>A (p.Ser87Thr)
10g.49482708A>CCA376724163ERCC6c.2148T>G (p.Tyr716Ter)
n.2226T>G
c.1989T>G (p.Tyr663Ter)
c.*540T>G (n.*540T>G)
c.258T>G (p.Tyr86Ter)
10g.49482708A>GCA469603984ERCC6c.2148T>C (p.Tyr716=)
n.2226T>C
c.1989T>C (p.Tyr663=)
c.*540T>C (n.*540T>C)
c.258T>C (p.Tyr86=)
10g.49482708A>TCA376724164ERCC6c.2148T>A (p.Tyr716Ter)
n.2226T>A
c.1989T>A (p.Tyr663Ter)
c.*540T>A (n.*540T>A)
c.258T>A (p.Tyr86Ter)
10g.49482709T>ACA376724165ERCC6c.2147A>T (p.Tyr716Phe)
n.2225A>T
c.1988A>T (p.Tyr663Phe)
c.*539A>T (n.*539A>T)
c.257A>T (p.Tyr86Phe)
 dbSNP gnomAD v2 gnomAD v4
10g.49482709T>CCA376724166ERCC6c.2147A>G (p.Tyr716Cys)
n.2225A>G
c.1988A>G (p.Tyr663Cys)
c.*539A>G (n.*539A>G)
c.257A>G (p.Tyr86Cys)
10g.49482709T>GCA376724167ERCC6c.2147A>C (p.Tyr716Ser)
n.2225A>C
c.1988A>C (p.Tyr663Ser)
c.*539A>C (n.*539A>C)
c.257A>C (p.Tyr86Ser)
10g.49482709T=CA1908760142ERCC6c.2147A= (p.Tyr716=)
n.2225A=
c.1988A= (p.Tyr663=)
c.*539A= (n.*539A=)
c.257A= (p.Tyr86=)
10g.49482710A>CCA376724170ERCC6c.2146T>G (p.Tyr716Asp)
n.2224T>G
c.1987T>G (p.Tyr663Asp)
c.*538T>G (n.*538T>G)
c.256T>G (p.Tyr86Asp)
10g.49482710A>GCA376724168ERCC6c.2146T>C (p.Tyr716His)
n.2224T>C
c.1987T>C (p.Tyr663His)
c.*538T>C (n.*538T>C)
c.256T>C (p.Tyr86His)
10g.49482710A>TCA376724169ERCC6c.2146T>A (p.Tyr716Asn)
n.2224T>A
c.1987T>A (p.Tyr663Asn)
c.*538T>A (n.*538T>A)
c.256T>A (p.Tyr86Asn)
10g.49482710_49482711insCCA645548752ERCC6c.2145_2146insG (p.Tyr716ValfsTer?)
n.2223_2224insG
c.1986_1987insG (p.Tyr663ValfsTer?)
c.*537_*538insG (n.*537_*538insG)
c.255_256insG (p.Tyr86ValfsTer?)
 COSMIC
10g.49482711delCA2609138608ERCC6c.2145del (p.Tyr716IlefsTer23)
n.2223del
c.1986del (p.Tyr663IlefsTer23)
c.*537del (n.*537del)
c.255del (p.Tyr86IlefsTer23)
 gnomAD v4
10g.49482711T>ACA469603985ERCC6c.2145A>T (p.Gly715=)
n.2223A>T
c.1986A>T (p.Gly662=)
c.*537A>T (n.*537A>T)
c.255A>T (p.Gly85=)
 ClinVar gnomAD v4
10g.49482711T>CCA469603987ERCC6c.2145A>G (p.Gly715=)
n.2223A>G
c.1986A>G (p.Gly662=)
c.*537A>G (n.*537A>G)
c.255A>G (p.Gly85=)
 ClinVar
10g.49482711T>GCA469603988ERCC6c.2145A>C (p.Gly715=)
n.2223A>C
c.1986A>C (p.Gly662=)
c.*537A>C (n.*537A>C)
c.255A>C (p.Gly85=)
10g.49482711_49482712delinsTCCA1908760163ERCC6c.2144_2145delinsGA (p.Gly715=)
n.2222_2223delinsGA
c.1985_1986delinsGA (p.Gly662=)
c.*536_*537delinsGA (n.*536_*537delinsGA)
c.254_255delinsGA (p.Gly85=)
10g.49482711_49482712insGCA469603989ERCC6c.2144_2145insC (p.Tyr716IlefsTer?)
n.2222_2223insC
c.1985_1986insC (p.Tyr663IlefsTer?)
c.*536_*537insC (n.*536_*537insC)
c.254_255insC (p.Tyr86IlefsTer?)
10g.49482712C>ACA376724171ERCC6c.2144G>T (p.Gly715Val)
n.2222G>T
c.1985G>T (p.Gly662Val)
c.*536G>T (n.*536G>T)
c.254G>T (p.Gly85Val)
 gnomAD v4
10g.49482712C>GCA376724172ERCC6c.2144G>C (p.Gly715Ala)
n.2222G>C
c.1985G>C (p.Gly662Ala)
c.*536G>C (n.*536G>C)
c.254G>C (p.Gly85Ala)
10g.49482712C>TCA376724173ERCC6c.2144G>A (p.Gly715Glu)
n.2222G>A
c.1985G>A (p.Gly662Glu)
c.*536G>A (n.*536G>A)
c.254G>A (p.Gly85Glu)
 gnomAD v4
10g.49482717dupCA645548753ERCC6c.2144dup (p.Tyr716IlefsTer?)
n.2222dup
c.1985dup (p.Tyr663IlefsTer?)
c.*536dup (n.*536dup)
c.254dup (p.Tyr86IlefsTer?)
 gnomAD v4 COSMIC
10g.49482717delCA1908760168ERCC6c.2144del (p.Gly715AspfsTer24)
n.2222del
c.1985del (p.Gly662AspfsTer24)
c.*536del (n.*536del)
c.254del (p.Gly85AspfsTer24)
 ClinVar dbSNP
10g.49482712_49482713insGCA469603990ERCC6c.2143_2144insC (p.Gly715AlafsTer?)
n.2221_2222insC
c.1984_1985insC (p.Gly662AlafsTer?)
c.*535_*536insC (n.*535_*536insC)
c.253_254insC (p.Gly85AlafsTer?)
10g.49482713C>ACA5495761ERCC6c.2143G>T (p.Gly715Ter)
n.2221G>T
c.1984G>T (p.Gly662Ter)
c.*535G>T (n.*535G>T)
c.253G>T (p.Gly85Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482713C=CA1908760174ERCC6c.2143G= (p.Gly715=)
n.2221G=
c.1984G= (p.Gly662=)
c.*535G= (n.*535G=)
c.253G= (p.Gly85=)
10g.49482713C>GCA376724174ERCC6c.2143G>C (p.Gly715Arg)
n.2221G>C
c.1984G>C (p.Gly662Arg)
c.*535G>C (n.*535G>C)
c.253G>C (p.Gly85Arg)
10g.49482713C>TCA5495760ERCC6c.2143G>A (p.Gly715Arg)
n.2221G>A
c.1984G>A (p.Gly662Arg)
c.*535G>A (n.*535G>A)
c.253G>A (p.Gly85Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482714C>ACA469603991ERCC6c.2142G>T (p.Gly714=)
n.2220G>T
c.1983G>T (p.Gly661=)
c.*534G>T (n.*534G>T)
c.252G>T (p.Gly84=)
10g.49482714C=CA1908760191ERCC6c.2142G= (p.Gly714=)
n.2220G=
c.1983G= (p.Gly661=)
c.*534G= (n.*534G=)
c.252G= (p.Gly84=)
10g.49482714C>GCA469603992ERCC6c.2142G>C (p.Gly714=)
n.2220G>C
c.1983G>C (p.Gly661=)
c.*534G>C (n.*534G>C)
c.252G>C (p.Gly84=)
10g.49482714C>TCA5495762ERCC6c.2142G>A (p.Gly714=)
n.2220G>A
c.1983G>A (p.Gly661=)
c.*534G>A (n.*534G>A)
c.252G>A (p.Gly84=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482715C>ACA376724175ERCC6c.2141G>T (p.Gly714Val)
n.2219G>T
c.1982G>T (p.Gly661Val)
c.*533G>T (n.*533G>T)
c.251G>T (p.Gly84Val)
10g.49482715C>GCA376724176ERCC6c.2141G>C (p.Gly714Ala)
n.2219G>C
c.1982G>C (p.Gly661Ala)
c.*533G>C (n.*533G>C)
c.251G>C (p.Gly84Ala)
10g.49482715C>TCA376724177ERCC6c.2141G>A (p.Gly714Glu)
n.2219G>A
c.1982G>A (p.Gly661Glu)
c.*533G>A (n.*533G>A)
c.251G>A (p.Gly84Glu)
10g.49482716C>ACA376724179ERCC6c.2140G>T (p.Gly714Trp)
n.2218G>T
c.1981G>T (p.Gly661Trp)
c.*532G>T (n.*532G>T)
c.250G>T (p.Gly84Trp)
10g.49482716C>GCA376724180ERCC6c.2140G>C (p.Gly714Arg)
n.2218G>C
c.1981G>C (p.Gly661Arg)
c.*532G>C (n.*532G>C)
c.250G>C (p.Gly84Arg)
10g.49482716C>TCA376724178ERCC6c.2140G>A (p.Gly714Arg)
n.2218G>A
c.1981G>A (p.Gly661Arg)
c.*532G>A (n.*532G>A)
c.250G>A (p.Gly84Arg)
 gnomAD v4
10g.49482717C>ACA376724181ERCC6c.2139G>T (p.Met713Ile)
n.2217G>T
c.1980G>T (p.Met660Ile)
c.*531G>T (n.*531G>T)
c.249G>T (p.Met83Ile)
10g.49482717C>GCA376724182ERCC6c.2139G>C (p.Met713Ile)
n.2217G>C
c.1980G>C (p.Met660Ile)
c.*531G>C (n.*531G>C)
c.249G>C (p.Met83Ile)
10g.49482717C>TCA376724183ERCC6c.2139G>A (p.Met713Ile)
n.2217G>A
c.1980G>A (p.Met660Ile)
c.*531G>A (n.*531G>A)
c.249G>A (p.Met83Ile)
 COSMIC
10g.49482718A=CA1908760200ERCC6c.2138T= (p.Met713=)
n.2216T=
c.1979T= (p.Met660=)
c.*530T= (n.*530T=)
c.248T= (p.Met83=)
10g.49482718A>CCA376724184ERCC6c.2138T>G (p.Met713Arg)
n.2216T>G
c.1979T>G (p.Met660Arg)
c.*530T>G (n.*530T>G)
c.248T>G (p.Met83Arg)
10g.49482718A>GCA376724185ERCC6c.2138T>C (p.Met713Thr)
n.2216T>C
c.1979T>C (p.Met660Thr)
c.*530T>C (n.*530T>C)
c.248T>C (p.Met83Thr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.49482718A>TCA376724186ERCC6c.2138T>A (p.Met713Lys)
n.2216T>A
c.1979T>A (p.Met660Lys)
c.*530T>A (n.*530T>A)
c.248T>A (p.Met83Lys)
10g.49482719T>ACA376724187ERCC6c.2137A>T (p.Met713Leu)
n.2215A>T
c.1978A>T (p.Met660Leu)
c.*529A>T (n.*529A>T)
c.247A>T (p.Met83Leu)
 gnomAD v4
10g.49482719T>CCA5495763ERCC6c.2137A>G (p.Met713Val)
n.2215A>G
c.1978A>G (p.Met660Val)
c.*529A>G (n.*529A>G)
c.247A>G (p.Met83Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482719T>GCA376724188ERCC6c.2137A>C (p.Met713Leu)
n.2215A>C
c.1978A>C (p.Met660Leu)
c.*529A>C (n.*529A>C)
c.247A>C (p.Met83Leu)
10g.49482719T=CA1908760203ERCC6c.2137A= (p.Met713=)
n.2215A=
c.1978A= (p.Met660=)
c.*529A= (n.*529A=)
c.247A= (p.Met83=)
10g.49482720G>ACA469603995ERCC6c.2136C>T (p.Thr712=)
n.2214C>T
c.1977C>T (p.Thr659=)
c.*528C>T (n.*528C>T)
c.246C>T (p.Thr82=)
10g.49482720G>CCA469603993ERCC6c.2136C>G (p.Thr712=)
n.2214C>G
c.1977C>G (p.Thr659=)
c.*528C>G (n.*528C>G)
c.246C>G (p.Thr82=)
 ClinVar dbSNP
10g.49482720G>TCA469603994ERCC6c.2136C>A (p.Thr712=)
n.2214C>A
c.1977C>A (p.Thr659=)
c.*528C>A (n.*528C>A)
c.246C>A (p.Thr82=)
10g.49482721G>ACA376724189ERCC6c.2135C>T (p.Thr712Ile)
n.2213C>T
c.1976C>T (p.Thr659Ile)
c.*527C>T (n.*527C>T)
c.245C>T (p.Thr82Ile)
 gnomAD v4
10g.49482721G>CCA376724190ERCC6c.2135C>G (p.Thr712Ser)
n.2213C>G
c.1976C>G (p.Thr659Ser)
c.*527C>G (n.*527C>G)
c.245C>G (p.Thr82Ser)
 COSMIC
10g.49482721G>TCA376724191ERCC6c.2135C>A (p.Thr712Asn)
n.2213C>A
c.1976C>A (p.Thr659Asn)
c.*527C>A (n.*527C>A)
c.245C>A (p.Thr82Asn)
 COSMIC
10g.49482722_49482723delCA2580081547ERCC6c.2134_2135del (p.Thr712HisfsTer?)
n.2212_2213del
c.1975_1976del (p.Thr659HisfsTer?)
c.*526_*527del (n.*526_*527del)
c.244_245del (p.Thr82HisfsTer?)
 ClinVar
10g.49482722T>ACA376724193ERCC6c.2134A>T (p.Thr712Ser)
n.2212A>T
c.1975A>T (p.Thr659Ser)
c.*526A>T (n.*526A>T)
c.244A>T (p.Thr82Ser)
10g.49482722T>CCA376724194ERCC6c.2134A>G (p.Thr712Ala)
n.2212A>G
c.1975A>G (p.Thr659Ala)
c.*526A>G (n.*526A>G)
c.244A>G (p.Thr82Ala)
 gnomAD v4
10g.49482722T>GCA376724192ERCC6c.2134A>C (p.Thr712Pro)
n.2212A>C
c.1975A>C (p.Thr659Pro)
c.*526A>C (n.*526A>C)
c.244A>C (p.Thr82Pro)
10g.49482723G>ACA469603997ERCC6c.2133C>T (p.Ile711=)
n.2211C>T
c.1974C>T (p.Ile658=)
c.*525C>T (n.*525C>T)
c.243C>T (p.Ile81=)
10g.49482723G>CCA376724195ERCC6c.2133C>G (p.Ile711Met)
n.2211C>G
c.1974C>G (p.Ile658Met)
c.*525C>G (n.*525C>G)
c.243C>G (p.Ile81Met)
10g.49482723G>TCA469603998ERCC6c.2133C>A (p.Ile711=)
n.2211C>A
c.1974C>A (p.Ile658=)
c.*525C>A (n.*525C>A)
c.243C>A (p.Ile81=)
10g.49482724A>CCA376724196ERCC6c.2132T>G (p.Ile711Ser)
n.2210T>G
c.1973T>G (p.Ile658Ser)
c.*524T>G (n.*524T>G)
c.242T>G (p.Ile81Ser)
10g.49482724A>GCA376724197ERCC6c.2132T>C (p.Ile711Thr)
n.2210T>C
c.1973T>C (p.Ile658Thr)
c.*524T>C (n.*524T>C)
c.242T>C (p.Ile81Thr)
10g.49482724A>TCA376724198ERCC6c.2132T>A (p.Ile711Asn)
n.2210T>A
c.1973T>A (p.Ile658Asn)
c.*524T>A (n.*524T>A)
c.242T>A (p.Ile81Asn)
10g.49482725T>ACA376724201ERCC6c.2131A>T (p.Ile711Phe)
n.2209A>T
c.1972A>T (p.Ile658Phe)
c.*523A>T (n.*523A>T)
c.241A>T (p.Ile81Phe)
10g.49482725T>CCA376724200ERCC6c.2131A>G (p.Ile711Val)
n.2209A>G
c.1972A>G (p.Ile658Val)
c.*523A>G (n.*523A>G)
c.241A>G (p.Ile81Val)
 ClinVar dbSNP gnomAD v4
10g.49482725T>GCA376724199ERCC6c.2131A>C (p.Ile711Leu)
n.2209A>C
c.1972A>C (p.Ile658Leu)
c.*523A>C (n.*523A>C)
c.241A>C (p.Ile81Leu)
10g.49482726G>ACA469604000ERCC6c.2130C>T (p.Pro710=)
n.2208C>T
c.1971C>T (p.Pro657=)
c.*522C>T (n.*522C>T)
c.240C>T (p.Pro80=)
 ClinVar dbSNP gnomAD v4
10g.49482726G>CCA469603999ERCC6c.2130C>G (p.Pro710=)
n.2208C>G
c.1971C>G (p.Pro657=)
c.*522C>G (n.*522C>G)
c.240C>G (p.Pro80=)
10g.49482726G>TCA469604001ERCC6c.2130C>A (p.Pro710=)
n.2208C>A
c.1971C>A (p.Pro657=)
c.*522C>A (n.*522C>A)
c.240C>A (p.Pro80=)
10g.49482729delCA2609138723ERCC6c.2130del (p.Ile711SerfsTer28)
n.2208del
c.1971del (p.Ile658SerfsTer28)
c.*522del (n.*522del)
c.240del (p.Ile81SerfsTer28)
 gnomAD v4
10g.49482727G>ACA376724202ERCC6c.2129C>T (p.Pro710Leu)
n.2207C>T
c.1970C>T (p.Pro657Leu)
c.*521C>T (n.*521C>T)
c.239C>T (p.Pro80Leu)
10g.49482727G>CCA376724203ERCC6c.2129C>G (p.Pro710Arg)
n.2207C>G
c.1970C>G (p.Pro657Arg)
c.*521C>G (n.*521C>G)
c.239C>G (p.Pro80Arg)
10g.49482727G>TCA376724204ERCC6c.2129C>A (p.Pro710His)
n.2207C>A
c.1970C>A (p.Pro657His)
c.*521C>A (n.*521C>A)
c.239C>A (p.Pro80His)
10g.49482728G>ACA376724205ERCC6c.2128C>T (p.Pro710Ser)
n.2206C>T
c.1969C>T (p.Pro657Ser)
c.*520C>T (n.*520C>T)
c.238C>T (p.Pro80Ser)
 gnomAD v4
10g.49482728G>CCA376724206ERCC6c.2128C>G (p.Pro710Ala)
n.2206C>G
c.1969C>G (p.Pro657Ala)
c.*520C>G (n.*520C>G)
c.238C>G (p.Pro80Ala)
 ClinVar
10g.49482728G>TCA376724207ERCC6c.2128C>A (p.Pro710Thr)
n.2206C>A
c.1969C>A (p.Pro657Thr)
c.*520C>A (n.*520C>A)
c.238C>A (p.Pro80Thr)
10g.49482729G>ACA469604003ERCC6c.2127C>T (p.Val709=)
n.2205C>T
c.1968C>T (p.Val656=)
c.*519C>T (n.*519C>T)
c.237C>T (p.Val79=)
 ClinVar gnomAD v4
10g.49482729G>CCA469604004ERCC6c.2127C>G (p.Val709=)
n.2205C>G
c.1968C>G (p.Val656=)
c.*519C>G (n.*519C>G)
c.237C>G (p.Val79=)
10g.49482729G>TCA469604002ERCC6c.2127C>A (p.Val709=)
n.2205C>A
c.1968C>A (p.Val656=)
c.*519C>A (n.*519C>A)
c.237C>A (p.Val79=)
10g.49482730A>CCA376724210ERCC6c.2126T>G (p.Val709Gly)
n.2204T>G
c.1967T>G (p.Val656Gly)
c.*518T>G (n.*518T>G)
c.236T>G (p.Val79Gly)
10g.49482730A>GCA376724209ERCC6c.2126T>C (p.Val709Ala)
n.2204T>C
c.1967T>C (p.Val656Ala)
c.*518T>C (n.*518T>C)
c.236T>C (p.Val79Ala)
10g.49482730A>TCA376724208ERCC6c.2126T>A (p.Val709Asp)
n.2204T>A
c.1967T>A (p.Val656Asp)
c.*518T>A (n.*518T>A)
c.236T>A (p.Val79Asp)
10g.49482731C>ACA376724211ERCC6c.2125G>T (p.Val709Phe)
n.2203G>T
c.1966G>T (p.Val656Phe)
c.*517G>T (n.*517G>T)
c.235G>T (p.Val79Phe)
 gnomAD v4
10g.49482731C=CA1908760208ERCC6c.2125G= (p.Val709=)
n.2203G=
c.1966G= (p.Val656=)
c.*517G= (n.*517G=)
c.235G= (p.Val79=)
10g.49482731C>GCA376724212ERCC6c.2125G>C (p.Val709Leu)
n.2203G>C
c.1966G>C (p.Val656Leu)
c.*517G>C (n.*517G>C)
c.235G>C (p.Val79Leu)
10g.49482731C>TCA5495764ERCC6c.2125G>A (p.Val709Ile)
n.2203G>A
c.1966G>A (p.Val656Ile)
c.*517G>A (n.*517G>A)
c.235G>A (p.Val79Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49482732G>ACA5495765ERCC6c.2124C>T (p.Ser708=)
n.2202C>T
c.1965C>T (p.Ser655=)
c.*516C>T (n.*516C>T)
c.234C>T (p.Ser78=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49482732G>CCA469604005ERCC6c.2124C>G (p.Ser708=)
n.2202C>G
c.1965C>G (p.Ser655=)
c.*516C>G (n.*516C>G)
c.234C>G (p.Ser78=)
10g.49482732G=CA1908760220ERCC6c.2124C= (p.Ser708=)
n.2202C=
c.1965C= (p.Ser655=)
c.*516C= (n.*516C=)
c.234C= (p.Ser78=)
10g.49482732G>TCA469604006ERCC6c.2124C>A (p.Ser708=)
n.2202C>A
c.1965C>A (p.Ser655=)
c.*516C>A (n.*516C>A)
c.234C>A (p.Ser78=)
 dbSNP
10g.49482733G>ACA376724213ERCC6c.2123C>T (p.Ser708Phe)
n.2201C>T
c.1964C>T (p.Ser655Phe)
c.*515C>T (n.*515C>T)
c.233C>T (p.Ser78Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49482733G>CCA376724214ERCC6c.2123C>G (p.Ser708Cys)
n.2201C>G
c.1964C>G (p.Ser655Cys)
c.*515C>G (n.*515C>G)
c.233C>G (p.Ser78Cys)
10g.49482733G=CA1908760233ERCC6c.2123C= (p.Ser708=)
n.2201C=
c.1964C= (p.Ser655=)
c.*515C= (n.*515C=)
c.233C= (p.Ser78=)
10g.49482733G>TCA376724215ERCC6c.2123C>A (p.Ser708Tyr)
n.2201C>A
c.1964C>A (p.Ser655Tyr)
c.*515C>A (n.*515C>A)
c.233C>A (p.Ser78Tyr)
10g.49482734A>CCA376724216ERCC6c.2122T>G (p.Ser708Ala)
n.2200T>G
c.1963T>G (p.Ser655Ala)
c.*514T>G (n.*514T>G)
c.232T>G (p.Ser78Ala)
10g.49482734A>GCA376724217ERCC6c.2122T>C (p.Ser708Pro)
n.2200T>C
c.1963T>C (p.Ser655Pro)
c.*514T>C (n.*514T>C)
c.232T>C (p.Ser78Pro)
10g.49482734A>TCA376724218ERCC6c.2122T>A (p.Ser708Thr)
n.2200T>A
c.1963T>A (p.Ser655Thr)
c.*514T>A (n.*514T>A)
c.232T>A (p.Ser78Thr)
10g.49482734_49482738delinsAGAACCA1908760242ERCC6c.2118_2122delinsGTTCT (p.Gln706=)
n.2196_2200delinsGTTCT
c.1959_1963delinsGTTCT (p.Gln653=)
c.*510_*514delinsGTTCT (n.*510_*514delinsGTTCT)
c.228_232delinsGTTCT (p.Gln76=)
10g.49482735G>ACA469604007ERCC6c.2121C>T (p.Phe707=)
n.2199C>T
c.1962C>T (p.Phe654=)
c.*513C>T (n.*513C>T)
c.231C>T (p.Phe77=)
 gnomAD v4
10g.49482735G>CCA376724219ERCC6c.2121C>G (p.Phe707Leu)
n.2199C>G
c.1962C>G (p.Phe654Leu)
c.*513C>G (n.*513C>G)
c.231C>G (p.Phe77Leu)
10g.49482735G=CA1908760248ERCC6c.2121C= (p.Phe707=)
n.2199C=
c.1962C= (p.Phe654=)
c.*513C= (n.*513C=)
c.231C= (p.Phe77=)
10g.49482735G>TCA376724220ERCC6c.2121C>A (p.Phe707Leu)
n.2199C>A
c.1962C>A (p.Phe654Leu)
c.*513C>A (n.*513C>A)
c.231C>A (p.Phe77Leu)
 dbSNP gnomAD v2 gnomAD v4
10g.49482735_49482738delCA5495766ERCC6c.2118_2121del (p.Gln706HisfsTer?)
n.2196_2199del
c.1959_1962del (p.Gln653HisfsTer?)
c.*510_*513del (n.*510_*513del)
c.228_231del (p.Gln76HisfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482736A>CCA376724221ERCC6c.2120T>G (p.Phe707Cys)
n.2198T>G
c.1961T>G (p.Phe654Cys)
c.*512T>G (n.*512T>G)
c.230T>G (p.Phe77Cys)
10g.49482736A>GCA376724222ERCC6c.2120T>C (p.Phe707Ser)
n.2198T>C
c.1961T>C (p.Phe654Ser)
c.*512T>C (n.*512T>C)
c.230T>C (p.Phe77Ser)
10g.49482736A>TCA376724223ERCC6c.2120T>A (p.Phe707Tyr)
n.2198T>A
c.1961T>A (p.Phe654Tyr)
c.*512T>A (n.*512T>A)
c.230T>A (p.Phe77Tyr)
10g.49482737A=CA1908760253ERCC6c.2119T= (p.Phe707=)
n.2197T=
c.1960T= (p.Phe654=)
c.*511T= (n.*511T=)
c.229T= (p.Phe77=)
10g.49482737A>CCA376724224ERCC6c.2119T>G (p.Phe707Val)
n.2197T>G
c.1960T>G (p.Phe654Val)
c.*511T>G (n.*511T>G)
c.229T>G (p.Phe77Val)
10g.49482737A>GCA376724226ERCC6c.2119T>C (p.Phe707Leu)
n.2197T>C
c.1960T>C (p.Phe654Leu)
c.*511T>C (n.*511T>C)
c.229T>C (p.Phe77Leu)
10g.49482737A>TCA376724225ERCC6c.2119T>A (p.Phe707Ile)
n.2197T>A
c.1960T>A (p.Phe654Ile)
c.*511T>A (n.*511T>A)
c.229T>A (p.Phe77Ile)
 dbSNP
10g.49482738C>ACA376724227ERCC6c.2118G>T (p.Gln706His)
n.2196G>T
c.1959G>T (p.Gln653His)
c.*510G>T (n.*510G>T)
c.228G>T (p.Gln76His)
10g.49482738C>GCA376724228ERCC6c.2118G>C (p.Gln706His)
n.2196G>C
c.1959G>C (p.Gln653His)
c.*510G>C (n.*510G>C)
c.228G>C (p.Gln76His)
 gnomAD v4
10g.49482738C>TCA469604008ERCC6c.2118G>A (p.Gln706=)
n.2196G>A
c.1959G>A (p.Gln653=)
c.*510G>A (n.*510G>A)
c.228G>A (p.Gln76=)
10g.49482739T>ACA376724229ERCC6c.2117A>T (p.Gln706Leu)
n.2195A>T
c.1958A>T (p.Gln653Leu)
c.*509A>T (n.*509A>T)
c.227A>T (p.Gln76Leu)
 COSMIC
10g.49482739T>CCA376724230ERCC6c.2117A>G (p.Gln706Arg)
n.2195A>G
c.1958A>G (p.Gln653Arg)
c.*509A>G (n.*509A>G)
c.227A>G (p.Gln76Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.49482739T>GCA376724231ERCC6c.2117A>C (p.Gln706Pro)
n.2195A>C
c.1958A>C (p.Gln653Pro)
c.*509A>C (n.*509A>C)
c.227A>C (p.Gln76Pro)
10g.49482739T=CA1908760258ERCC6c.2117A= (p.Gln706=)
n.2195A=
c.1958A= (p.Gln653=)
c.*509A= (n.*509A=)
c.227A= (p.Gln76=)
10g.49482740G>ACA376724232ERCC6c.2116C>T (p.Gln706Ter)
n.2194C>T
c.1957C>T (p.Gln653Ter)
c.*508C>T (n.*508C>T)
c.226C>T (p.Gln76Ter)
10g.49482740G>CCA376724233ERCC6c.2116C>G (p.Gln706Glu)
n.2194C>G
c.1957C>G (p.Gln653Glu)
c.*508C>G (n.*508C>G)
c.226C>G (p.Gln76Glu)
10g.49482740G>TCA376724234ERCC6c.2116C>A (p.Gln706Lys)
n.2194C>A
c.1957C>A (p.Gln653Lys)
c.*508C>A (n.*508C>A)
c.226C>A (p.Gln76Lys)
10g.49482741C>ACA376724235ERCC6c.2115G>T (p.Glu705Asp)
n.2193G>T
c.1956G>T (p.Glu652Asp)
c.*507G>T (n.*507G>T)
c.225G>T (p.Glu75Asp)
10g.49482741C>GCA376724236ERCC6c.2115G>C (p.Glu705Asp)
n.2193G>C
c.1956G>C (p.Glu652Asp)
c.*507G>C (n.*507G>C)
c.225G>C (p.Glu75Asp)
10g.49482741C>TCA469604009ERCC6c.2115G>A (p.Glu705=)
n.2193G>A
c.1956G>A (p.Glu652=)
c.*507G>A (n.*507G>A)
c.225G>A (p.Glu75=)
 ClinVar dbSNP gnomAD v4
10g.49482742T>ACA376724238ERCC6c.2114A>T (p.Glu705Val)
n.2192A>T
c.1955A>T (p.Glu652Val)
c.*506A>T (n.*506A>T)
c.224A>T (p.Glu75Val)
10g.49482742T>CCA5495767ERCC6c.2114A>G (p.Glu705Gly)
n.2192A>G
c.1955A>G (p.Glu652Gly)
c.*506A>G (n.*506A>G)
c.224A>G (p.Glu75Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482742T>GCA376724237ERCC6c.2114A>C (p.Glu705Ala)
n.2192A>C
c.1955A>C (p.Glu652Ala)
c.*506A>C (n.*506A>C)
c.224A>C (p.Glu75Ala)
10g.49482742T=CA1908760262ERCC6c.2114A= (p.Glu705=)
n.2192A=
c.1955A= (p.Glu652=)
c.*506A= (n.*506A=)
c.224A= (p.Glu75=)
10g.49482743C>ACA376724241ERCC6c.2113G>T (p.Glu705Ter)
n.2191G>T
c.1954G>T (p.Glu652Ter)
c.*505G>T (n.*505G>T)
c.223G>T (p.Glu75Ter)
10g.49482743C>GCA376724239ERCC6c.2113G>C (p.Glu705Gln)
n.2191G>C
c.1954G>C (p.Glu652Gln)
c.*505G>C (n.*505G>C)
c.223G>C (p.Glu75Gln)
10g.49482743C>TCA376724240ERCC6c.2113G>A (p.Glu705Lys)
n.2191G>A
c.1954G>A (p.Glu652Lys)
c.*505G>A (n.*505G>A)
c.223G>A (p.Glu75Lys)
10g.49482744delCA2609138793ERCC6c.2113del (p.Glu705SerfsTer?)
n.2191del
c.1954del (p.Glu652SerfsTer?)
c.*505del (n.*505del)
c.223del (p.Glu75SerfsTer?)
 gnomAD v4
10g.49482744C>ACA376724242ERCC6c.2112G>T (p.Met704Ile)
n.2190G>T
c.1953G>T (p.Met651Ile)
c.*504G>T (n.*504G>T)
c.222G>T (p.Met74Ile)
10g.49482744C=CA1908760267ERCC6c.2112G= (p.Met704=)
n.2190G=
c.1953G= (p.Met651=)
c.*504G= (n.*504G=)
c.222G= (p.Met74=)
10g.49482744C>GCA376724243ERCC6c.2112G>C (p.Met704Ile)
n.2190G>C
c.1953G>C (p.Met651Ile)
c.*504G>C (n.*504G>C)
c.222G>C (p.Met74Ile)
10g.49482744C>TCA376724244ERCC6c.2112G>A (p.Met704Ile)
n.2190G>A
c.1953G>A (p.Met651Ile)
c.*504G>A (n.*504G>A)
c.222G>A (p.Met74Ile)
10g.49482745A>CCA376724245ERCC6c.2111T>G (p.Met704Arg)
n.2189T>G
c.1952T>G (p.Met651Arg)
c.*503T>G (n.*503T>G)
c.221T>G (p.Met74Arg)
10g.49482745A>GCA376724246ERCC6c.2111T>C (p.Met704Thr)
n.2189T>C
c.1952T>C (p.Met651Thr)
c.*503T>C (n.*503T>C)
c.221T>C (p.Met74Thr)
10g.49482745A>TCA376724247ERCC6c.2111T>A (p.Met704Lys)
n.2189T>A
c.1952T>A (p.Met651Lys)
c.*503T>A (n.*503T>A)
c.221T>A (p.Met74Lys)
10g.49482745dupCA666035635ERCC6c.2111dup (p.Met704IlefsTer?)
n.2189dup
c.1952dup (p.Met651IlefsTer?)
c.*503dup (n.*503dup)
c.221dup (p.Met74IlefsTer?)
 dbSNP
10g.49482746T>ACA376724248ERCC6c.2110A>T (p.Met704Leu)
n.2188A>T
c.1951A>T (p.Met651Leu)
c.*502A>T (n.*502A>T)
c.220A>T (p.Met74Leu)
 gnomAD v4
10g.49482746T>CCA376724249ERCC6c.2110A>G (p.Met704Val)
n.2188A>G
c.1951A>G (p.Met651Val)
c.*502A>G (n.*502A>G)
c.220A>G (p.Met74Val)
10g.49482746T>GCA376724250ERCC6c.2110A>C (p.Met704Leu)
n.2188A>C
c.1951A>C (p.Met651Leu)
c.*502A>C (n.*502A>C)
c.220A>C (p.Met74Leu)
10g.49482747A>CCA376724251ERCC6c.2109T>G (p.Phe703Leu)
n.2187T>G
c.1950T>G (p.Phe650Leu)
c.*501T>G (n.*501T>G)
c.219T>G (p.Phe73Leu)
10g.49482747A>GCA469604011ERCC6c.2109T>C (p.Phe703=)
n.2187T>C
c.1950T>C (p.Phe650=)
c.*501T>C (n.*501T>C)
c.219T>C (p.Phe73=)
10g.49482747A>TCA376724252ERCC6c.2109T>A (p.Phe703Leu)
n.2187T>A
c.1950T>A (p.Phe650Leu)
c.*501T>A (n.*501T>A)
c.219T>A (p.Phe73Leu)
10g.49482748A>CCA376724255ERCC6c.2108T>G (p.Phe703Cys)
n.2186T>G
c.1949T>G (p.Phe650Cys)
c.*500T>G (n.*500T>G)
c.218T>G (p.Phe73Cys)
10g.49482748A>GCA376724253ERCC6c.2108T>C (p.Phe703Ser)
n.2186T>C
c.1949T>C (p.Phe650Ser)
c.*500T>C (n.*500T>C)
c.218T>C (p.Phe73Ser)
10g.49482748A>TCA376724254ERCC6c.2108T>A (p.Phe703Tyr)
n.2186T>A
c.1949T>A (p.Phe650Tyr)
c.*500T>A (n.*500T>A)
c.218T>A (p.Phe73Tyr)
10g.49482749A>CCA376724256ERCC6c.2107T>G (p.Phe703Val)
n.2185T>G
c.1948T>G (p.Phe650Val)
c.*499T>G (n.*499T>G)
c.217T>G (p.Phe73Val)
10g.49482749A>GCA376724257ERCC6c.2107T>C (p.Phe703Leu)
n.2185T>C
c.1948T>C (p.Phe650Leu)
c.*499T>C (n.*499T>C)
c.217T>C (p.Phe73Leu)
 gnomAD v4
10g.49482749A>TCA376724258ERCC6c.2107T>A (p.Phe703Ile)
n.2185T>A
c.1948T>A (p.Phe650Ile)
c.*499T>A (n.*499T>A)
c.217T>A (p.Phe73Ile)
10g.49482750delCA2580081549ERCC6c.2106del (p.Phe703LeufsTer?)
n.2184del
c.1947del (p.Phe650LeufsTer?)
c.*498del (n.*498del)
c.216del (p.Phe73LeufsTer?)
 ClinVar
10g.49482750C>ACA469604013ERCC6c.2106G>T (p.Val702=)
n.2184G>T
c.1947G>T (p.Val649=)
c.*498G>T (n.*498G>T)
c.216G>T (p.Val72=)
10g.49482750C=CA1908760271ERCC6c.2106G= (p.Val702=)
n.2184G=
c.1947G= (p.Val649=)
c.*498G= (n.*498G=)
c.216G= (p.Val72=)
10g.49482750C>GCA469604012ERCC6c.2106G>C (p.Val702=)
n.2184G>C
c.1947G>C (p.Val649=)
c.*498G>C (n.*498G>C)
c.216G>C (p.Val72=)
10g.49482750C>TCA5495768ERCC6c.2106G>A (p.Val702=)
n.2184G>A
c.1947G>A (p.Val649=)
c.*498G>A (n.*498G>A)
c.216G>A (p.Val72=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482751A>CCA376724259ERCC6c.2105T>G (p.Val702Gly)
n.2183T>G
c.1946T>G (p.Val649Gly)
c.*497T>G (n.*497T>G)
c.215T>G (p.Val72Gly)
10g.49482751A>GCA376724260ERCC6c.2105T>C (p.Val702Ala)
n.2183T>C
c.1946T>C (p.Val649Ala)
c.*497T>C (n.*497T>C)
c.215T>C (p.Val72Ala)
10g.49482751A>TCA376724261ERCC6c.2105T>A (p.Val702Glu)
n.2183T>A
c.1946T>A (p.Val649Glu)
c.*497T>A (n.*497T>A)
c.215T>A (p.Val72Glu)
10g.49482752C>ACA376724262ERCC6c.2104G>T (p.Val702Leu)
n.2182G>T
c.1945G>T (p.Val649Leu)
c.*496G>T (n.*496G>T)
c.214G>T (p.Val72Leu)
10g.49482752C>GCA376724263ERCC6c.2104G>C (p.Val702Leu)
n.2182G>C
c.1945G>C (p.Val649Leu)
c.*496G>C (n.*496G>C)
c.214G>C (p.Val72Leu)
 gnomAD v4
10g.49482752C>TCA376724264ERCC6c.2104G>A (p.Val702Met)
n.2182G>A
c.1945G>A (p.Val649Met)
c.*496G>A (n.*496G>A)
c.214G>A (p.Val72Met)
10g.49482753A>CCA469604015ERCC6c.2103T>G (p.Pro701=)
n.2181T>G
c.1944T>G (p.Pro648=)
c.*495T>G (n.*495T>G)
c.213T>G (p.Pro71=)
10g.49482753A>GCA469604016ERCC6c.2103T>C (p.Pro701=)
n.2181T>C
c.1944T>C (p.Pro648=)
c.*495T>C (n.*495T>C)
c.213T>C (p.Pro71=)
10g.49482753A>TCA469604014ERCC6c.2103T>A (p.Pro701=)
n.2181T>A
c.1944T>A (p.Pro648=)
c.*495T>A (n.*495T>A)
c.213T>A (p.Pro71=)
10g.49482754G>ACA376724265ERCC6c.2102C>T (p.Pro701Leu)
n.2180C>T
c.1943C>T (p.Pro648Leu)
c.*494C>T (n.*494C>T)
c.212C>T (p.Pro71Leu)
10g.49482754G>CCA376724266ERCC6c.2102C>G (p.Pro701Arg)
n.2180C>G
c.1943C>G (p.Pro648Arg)
c.*494C>G (n.*494C>G)
c.212C>G (p.Pro71Arg)
10g.49482754G>TCA376724267ERCC6c.2102C>A (p.Pro701His)
n.2180C>A
c.1943C>A (p.Pro648His)
c.*494C>A (n.*494C>A)
c.212C>A (p.Pro71His)
10g.49482755_49482762delCA2609138826ERCC6c.2095_2102del (p.Thr699CysfsTer?)
n.2173_2180del
c.1936_1943del (p.Thr646CysfsTer?)
c.*487_*494del (n.*487_*494del)
c.205_212del (p.Thr69CysfsTer?)
 gnomAD v4
10g.49482755G>ACA376724269ERCC6c.2101C>T (p.Pro701Ser)
n.2179C>T
c.1942C>T (p.Pro648Ser)
c.*493C>T (n.*493C>T)
c.211C>T (p.Pro71Ser)
10g.49482755G>CCA376724270ERCC6c.2101C>G (p.Pro701Ala)
n.2179C>G
c.1942C>G (p.Pro648Ala)
c.*493C>G (n.*493C>G)
c.211C>G (p.Pro71Ala)
10g.49482755G>TCA376724268ERCC6c.2101C>A (p.Pro701Thr)
n.2179C>A
c.1942C>A (p.Pro648Thr)
c.*493C>A (n.*493C>A)
c.211C>A (p.Pro71Thr)
10g.49482756C>ACA376724271ERCC6c.2100G>T (p.Leu700Phe)
n.2178G>T
c.1941G>T (p.Leu647Phe)
c.*492G>T (n.*492G>T)
c.210G>T (p.Leu70Phe)
 dbSNP gnomAD v2 gnomAD v4
10g.49482756C=CA1908760274ERCC6c.2100G= (p.Leu700=)
n.2178G=
c.1941G= (p.Leu647=)
c.*492G= (n.*492G=)
c.210G= (p.Leu70=)
10g.49482756C>GCA376724272ERCC6c.2100G>C (p.Leu700Phe)
n.2178G>C
c.1941G>C (p.Leu647Phe)
c.*492G>C (n.*492G>C)
c.210G>C (p.Leu70Phe)
10g.49482756C>TCA469604017ERCC6c.2100G>A (p.Leu700=)
n.2178G>A
c.1941G>A (p.Leu647=)
c.*492G>A (n.*492G>A)
c.210G>A (p.Leu70=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49482757A>CCA376724273ERCC6c.2099T>G (p.Leu700Trp)
n.2177T>G
c.1940T>G (p.Leu647Trp)
c.*491T>G (n.*491T>G)
c.209T>G (p.Leu70Trp)
10g.49482757A>GCA376724274ERCC6c.2099T>C (p.Leu700Ser)
n.2177T>C
c.1940T>C (p.Leu647Ser)
c.*491T>C (n.*491T>C)
c.209T>C (p.Leu70Ser)
 COSMIC
10g.49482757A>TCA376724275ERCC6c.2099T>A (p.Leu700Ter)
n.2177T>A
c.1940T>A (p.Leu647Ter)
c.*491T>A (n.*491T>A)
c.209T>A (p.Leu70Ter)
10g.49482758A>CCA376724276ERCC6c.2098T>G (p.Leu700Val)
n.2176T>G
c.1939T>G (p.Leu647Val)
c.*490T>G (n.*490T>G)
c.208T>G (p.Leu70Val)
10g.49482758A>GCA469604018ERCC6c.2098T>C (p.Leu700=)
n.2176T>C
c.1939T>C (p.Leu647=)
c.*490T>C (n.*490T>C)
c.208T>C (p.Leu70=)
10g.49482758A>TCA376724277ERCC6c.2098T>A (p.Leu700Met)
n.2176T>A
c.1939T>A (p.Leu647Met)
c.*490T>A (n.*490T>A)
c.208T>A (p.Leu70Met)
10g.49482759C>ACA469604019ERCC6c.2097G>T (p.Thr699=)
n.2175G>T
c.1938G>T (p.Thr646=)
c.*489G>T (n.*489G>T)
c.207G>T (p.Thr69=)
10g.49482759C=CA1908760284ERCC6c.2097G= (p.Thr699=)
n.2175G=
c.1938G= (p.Thr646=)
c.*489G= (n.*489G=)
c.207G= (p.Thr69=)
10g.49482759C>GCA206595739ERCC6c.2097G>C (p.Thr699=)
n.2175G>C
c.1938G>C (p.Thr646=)
c.*489G>C (n.*489G>C)
c.207G>C (p.Thr69=)
 dbSNP
10g.49482759C>TCA5495769ERCC6c.2097G>A (p.Thr699=)
n.2175G>A
c.1938G>A (p.Thr646=)
c.*489G>A (n.*489G>A)
c.207G>A (p.Thr69=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49482760G>ACA5495770ERCC6c.2096C>T (p.Thr699Met)
n.2174C>T
c.1937C>T (p.Thr646Met)
c.*488C>T (n.*488C>T)
c.206C>T (p.Thr69Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482760G>CCA376724278ERCC6c.2096C>G (p.Thr699Arg)
n.2174C>G
c.1937C>G (p.Thr646Arg)
c.*488C>G (n.*488C>G)
c.206C>G (p.Thr69Arg)
10g.49482760G=CA1908760296ERCC6c.2096C= (p.Thr699=)
n.2174C=
c.1937C= (p.Thr646=)
c.*488C= (n.*488C=)
c.206C= (p.Thr69=)
10g.49482760G>TCA376724279ERCC6c.2096C>A (p.Thr699Lys)
n.2174C>A
c.1937C>A (p.Thr646Lys)
c.*488C>A (n.*488C>A)
c.206C>A (p.Thr69Lys)
 gnomAD v4
10g.49482760dupCA274700ERCC6c.2096dup (p.Leu700ValfsTer?)
n.2174dup
c.1937dup (p.Leu647ValfsTer?)
c.*488dup (n.*488dup)
c.206dup (p.Leu70ValfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482761T>ACA376724282ERCC6c.2095A>T (p.Thr699Ser)
n.2173A>T
c.1936A>T (p.Thr646Ser)
c.*487A>T (n.*487A>T)
c.205A>T (p.Thr69Ser)
10g.49482761T>CCA376724281ERCC6c.2095A>G (p.Thr699Ala)
n.2173A>G
c.1936A>G (p.Thr646Ala)
c.*487A>G (n.*487A>G)
c.205A>G (p.Thr69Ala)
 dbSNP
10g.49482761T>GCA376724280ERCC6c.2095A>C (p.Thr699Pro)
n.2173A>C
c.1936A>C (p.Thr646Pro)
c.*487A>C (n.*487A>C)
c.205A>C (p.Thr69Pro)
10g.49482761T=CA1908760304ERCC6c.2095A= (p.Thr699=)
n.2173A=
c.1936A= (p.Thr646=)
c.*487A= (n.*487A=)
c.205A= (p.Thr69=)
10g.49482762G>ACA469604021ERCC6c.2094C>T (p.Gly698=)
n.2172C>T
c.1935C>T (p.Gly645=)
c.*486C>T (n.*486C>T)
c.204C>T (p.Gly68=)
10g.49482762G>CCA469604022ERCC6c.2094C>G (p.Gly698=)
n.2172C>G
c.1935C>G (p.Gly645=)
c.*486C>G (n.*486C>G)
c.204C>G (p.Gly68=)
10g.49482762G=CA1908760309ERCC6c.2094C= (p.Gly698=)
n.2172C=
c.1935C= (p.Gly645=)
c.*486C= (n.*486C=)
c.204C= (p.Gly68=)
10g.49482762G>TCA469604020ERCC6c.2094C>A (p.Gly698=)
n.2172C>A
c.1935C>A (p.Gly645=)
c.*486C>A (n.*486C>A)
c.204C>A (p.Gly68=)
 ClinVar
10g.49482763C>ACA376724283ERCC6c.2093G>T (p.Gly698Val)
n.2171G>T
c.1934G>T (p.Gly645Val)
c.*485G>T (n.*485G>T)
c.203G>T (p.Gly68Val)
10g.49482763C>GCA376724284ERCC6c.2093G>C (p.Gly698Ala)
n.2171G>C
c.1934G>C (p.Gly645Ala)
c.*485G>C (n.*485G>C)
c.203G>C (p.Gly68Ala)
10g.49482763C>TCA376724285ERCC6c.2093G>A (p.Gly698Asp)
n.2171G>A
c.1934G>A (p.Gly645Asp)
c.*485G>A (n.*485G>A)
c.203G>A (p.Gly68Asp)
 ClinVar
10g.49482764dupCA593780673ERCC6c.2093dup (p.Thr699HisfsTer?)
n.2171dup
c.1934dup (p.Thr646HisfsTer?)
c.*485dup (n.*485dup)
c.203dup (p.Thr69HisfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49482764C>ACA376724286ERCC6c.2092G>T (p.Gly698Cys)
n.2170G>T
c.1933G>T (p.Gly645Cys)
c.*484G>T (n.*484G>T)
c.202G>T (p.Gly68Cys)
10g.49482764C>GCA376724287ERCC6c.2092G>C (p.Gly698Arg)
n.2170G>C
c.1933G>C (p.Gly645Arg)
c.*484G>C (n.*484G>C)
c.202G>C (p.Gly68Arg)
10g.49482764C>TCA376724288ERCC6c.2092G>A (p.Gly698Ser)
n.2170G>A
c.1933G>A (p.Gly645Ser)
c.*484G>A (n.*484G>A)
c.202G>A (p.Gly68Ser)
10g.49482765T>ACA376724289ERCC6c.2091A>T (p.Leu697Phe)
n.2169A>T
c.1932A>T (p.Leu644Phe)
c.*483A>T (n.*483A>T)
c.201A>T (p.Leu67Phe)
 COSMIC
10g.49482765T>CCA469604023ERCC6c.2091A>G (p.Leu697=)
n.2169A>G
c.1932A>G (p.Leu644=)
c.*483A>G (n.*483A>G)
c.201A>G (p.Leu67=)
10g.49482765T>GCA376724290ERCC6c.2091A>C (p.Leu697Phe)
n.2169A>C
c.1932A>C (p.Leu644Phe)
c.*483A>C (n.*483A>C)
c.201A>C (p.Leu67Phe)

Number of alleles fetched