Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49482663del | CA5495753 | ERCC6 | c.2169+27del (n.2169+27del) n.2247+27del c.2010+27del (n.2010+27del) c.*561+27del (n.*561+27del) c.279+27del (n.279+27del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49482661A= | CA1908760015 | ERCC6 | c.2169+26T= (n.2169+26T=) n.2247+26T= c.2010+26T= (n.2010+26T=) c.*561+26T= (n.*561+26T=) c.279+26T= (n.279+26T=) | |
10 | g.49482661A>G | CA666035488 | ERCC6 | c.2169+26T>C (n.2169+26T>C) n.2247+26T>C c.2010+26T>C (n.2010+26T>C) c.*561+26T>C (n.*561+26T>C) c.279+26T>C (n.279+26T>C) | dbSNP gnomAD v4 |
10 | g.49482662A= | CA1908760017 | ERCC6 | c.2169+25T= (n.2169+25T=) n.2247+25T= c.2010+25T= (n.2010+25T=) c.*561+25T= (n.*561+25T=) c.279+25T= (n.279+25T=) | |
10 | g.49482662A>G | CA593780669 | ERCC6 | c.2169+25T>C (n.2169+25T>C) n.2247+25T>C c.2010+25T>C (n.2010+25T>C) c.*561+25T>C (n.*561+25T>C) c.279+25T>C (n.279+25T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49482665T>A | CA1908760021 | ERCC6 | c.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 |
10 | g.49482665T>C | CA5495754 | ERCC6 | c.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 |
10 | g.49482665T>G | CA2721535468 | ERCC6 | c.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 |
10 | g.49482665T= | CA1908760019 | ERCC6 | c.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=) | |
10 | g.49482666A= | CA1908760027 | ERCC6 | c.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=) | |
10 | g.49482666A>G | CA593780670 | ERCC6 | c.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 |
10 | g.49482670T>C | CA593780671 | ERCC6 | c.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 |
10 | g.49482670T= | CA1908760030 | ERCC6 | c.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=) | |
10 | g.49482671C>A | CA2609138488 | ERCC6 | c.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 |
10 | g.49482671C= | CA1908760035 | ERCC6 | c.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=) | |
10 | g.49482671C>G | CA593780672 | ERCC6 | c.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 |
10 | g.49482671C>T | CA5495755 | ERCC6 | c.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 |
10 | g.49482672A>T | CA2609138501 | ERCC6 | c.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 |
10 | g.49482674C= | CA1908760038 | ERCC6 | c.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=) | |
10 | g.49482674C>T | CA1908760039 | ERCC6 | c.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 |
10 | g.49482675C= | CA1908760042 | ERCC6 | c.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=) | |
10 | g.49482675C>G | CA5495756 | ERCC6 | c.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 |
10 | g.49482675C>T | CA2739265371 | ERCC6 | c.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 |
10 | g.49482676T>C | CA2609138506 | ERCC6 | c.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 |
10 | g.49482677A>G | CA2697558382 | ERCC6 | c.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 |
10 | g.49482680A= | CA1908760047 | ERCC6 | c.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=) | |
10 | g.49482680A>G | CA1908760048 | ERCC6 | c.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 |
10 | g.49482684dup | CA2843387324 | ERCC6 | c.2169+6dup (n.2169+6dup) n.2247+6dup c.2010+6dup (n.2010+6dup) c.*561+6dup (n.*561+6dup) c.279+6dup (n.279+6dup) | |
10 | g.49482682T>A | CA2721530995 | ERCC6 | c.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 |
10 | g.49482682T>G | CA206595678 | ERCC6 | c.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 |
10 | g.49482682T= | CA1908760052 | ERCC6 | c.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=) | |
10 | g.49482684T>C | CA2609138541 | ERCC6 | c.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 |
10 | g.49482685A>C | CA376724114 | ERCC6 | c.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) | |
10 | g.49482685A>G | CA376724115 | ERCC6 | c.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) | |
10 | g.49482685A>T | CA376724116 | ERCC6 | c.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) | |
10 | g.49482686C>A | CA376724117 | ERCC6 | c.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) | |
10 | g.49482686C= | CA1908760064 | ERCC6 | c.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=) | |
10 | g.49482686C>G | CA376724118 | ERCC6 | c.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) | |
10 | g.49482686C>T | CA376724119 | ERCC6 | c.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 |
10 | g.49482687C>A | CA376724120 | ERCC6 | c.2169G>T (p.Gln723His) n.2247G>T c.2010G>T (p.Gln670His) c.*561G>T (n.*561G>T) c.279G>T (p.Gln93His) | |
10 | g.49482687C>G | CA376724121 | ERCC6 | c.2169G>C (p.Gln723His) n.2247G>C c.2010G>C (p.Gln670His) c.*561G>C (n.*561G>C) c.279G>C (p.Gln93His) | |
10 | g.49482687C>T | CA469603968 | ERCC6 | c.2169G>A (p.Gln723=) n.2247G>A c.2010G>A (p.Gln670=) c.*561G>A (n.*561G>A) c.279G>A (p.Gln93=) | |
10 | g.49482688T>A | CA376724123 | ERCC6 | c.2168A>T (p.Gln723Leu) n.2246A>T c.2009A>T (p.Gln670Leu) c.*560A>T (n.*560A>T) c.278A>T (p.Gln93Leu) | |
10 | g.49482688T>C | CA5495757 | ERCC6 | c.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 |
10 | g.49482688T>G | CA376724122 | ERCC6 | c.2168A>C (p.Gln723Pro) n.2246A>C c.2009A>C (p.Gln670Pro) c.*560A>C (n.*560A>C) c.278A>C (p.Gln93Pro) | |
10 | g.49482688T= | CA1908760070 | ERCC6 | c.2168A= (p.Gln723=) n.2246A= c.2009A= (p.Gln670=) c.*560A= (n.*560A=) c.278A= (p.Gln93=) | |
10 | g.49482689G>A | CA274701 | ERCC6 | c.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 |
10 | g.49482689G>C | CA376724124 | ERCC6 | c.2167C>G (p.Gln723Glu) n.2245C>G c.2008C>G (p.Gln670Glu) c.*559C>G (n.*559C>G) c.277C>G (p.Gln93Glu) | |
10 | g.49482689G= | CA1908760080 | ERCC6 | c.2167C= (p.Gln723=) n.2245C= c.2008C= (p.Gln670=) c.*559C= (n.*559C=) c.277C= (p.Gln93=) | |
10 | g.49482689G>T | CA376724125 | ERCC6 | c.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 |
10 | g.49482690del | CA2580081546 | ERCC6 | c.2166del (p.Gln723ArgfsTer16) n.2244del c.2007del (p.Gln670ArgfsTer16) c.*558del (n.*558del) c.276del (p.Gln93ArgfsTer16) | ClinVar |
10 | g.49482690T>A | CA469603970 | ERCC6 | c.2166A>T (p.Val722=) n.2244A>T c.2007A>T (p.Val669=) c.*558A>T (n.*558A>T) c.276A>T (p.Val92=) | |
10 | g.49482690T>C | CA469603969 | ERCC6 | c.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 |
10 | g.49482690T>G | CA469603971 | ERCC6 | c.2166A>C (p.Val722=) n.2244A>C c.2007A>C (p.Val669=) c.*558A>C (n.*558A>C) c.276A>C (p.Val92=) | |
10 | g.49482690T= | CA1908760090 | ERCC6 | c.2166A= (p.Val722=) n.2244A= c.2007A= (p.Val669=) c.*558A= (n.*558A=) c.276A= (p.Val92=) | |
10 | g.49482691A= | CA1908760109 | ERCC6 | c.2165T= (p.Val722=) n.2243T= c.2006T= (p.Val669=) c.*557T= (n.*557T=) c.275T= (p.Val92=) | |
10 | g.49482691A>C | CA376724126 | ERCC6 | c.2165T>G (p.Val722Gly) n.2243T>G c.2006T>G (p.Val669Gly) c.*557T>G (n.*557T>G) c.275T>G (p.Val92Gly) | |
10 | g.49482691A>G | CA376724127 | ERCC6 | c.2165T>C (p.Val722Ala) n.2243T>C c.2006T>C (p.Val669Ala) c.*557T>C (n.*557T>C) c.275T>C (p.Val92Ala) | dbSNP |
10 | g.49482691A>T | CA376724128 | ERCC6 | c.2165T>A (p.Val722Glu) n.2243T>A c.2006T>A (p.Val669Glu) c.*557T>A (n.*557T>A) c.275T>A (p.Val92Glu) | |
10 | g.49482692C>A | CA376724129 | ERCC6 | c.2164G>T (p.Val722Leu) n.2242G>T c.2005G>T (p.Val669Leu) c.*556G>T (n.*556G>T) c.274G>T (p.Val92Leu) | |
10 | g.49482692C= | CA1908760115 | ERCC6 | c.2164G= (p.Val722=) n.2242G= c.2005G= (p.Val669=) c.*556G= (n.*556G=) c.274G= (p.Val92=) | |
10 | g.49482692C>G | CA376724130 | ERCC6 | c.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 |
10 | g.49482692C>T | CA5495758 | ERCC6 | c.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 |
10 | g.49482693T>A | CA469603973 | ERCC6 | c.2163A>T (p.Pro721=) n.2241A>T c.2004A>T (p.Pro668=) c.*555A>T (n.*555A>T) c.273A>T (p.Pro91=) | |
10 | g.49482693T>C | CA5495759 | ERCC6 | c.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 |
10 | g.49482693T>G | CA469603972 | ERCC6 | c.2163A>C (p.Pro721=) n.2241A>C c.2004A>C (p.Pro668=) c.*555A>C (n.*555A>C) c.273A>C (p.Pro91=) | |
10 | g.49482693T= | CA1908760120 | ERCC6 | c.2163A= (p.Pro721=) n.2241A= c.2004A= (p.Pro668=) c.*555A= (n.*555A=) c.273A= (p.Pro91=) | |
10 | g.49482694G>A | CA376724131 | ERCC6 | c.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 |
10 | g.49482694G>C | CA376724132 | ERCC6 | c.2162C>G (p.Pro721Arg) n.2240C>G c.2003C>G (p.Pro668Arg) c.*554C>G (n.*554C>G) c.272C>G (p.Pro91Arg) | |
10 | g.49482694G>T | CA376724133 | ERCC6 | c.2162C>A (p.Pro721Gln) n.2240C>A c.2003C>A (p.Pro668Gln) c.*554C>A (n.*554C>A) c.272C>A (p.Pro91Gln) | |
10 | g.49482695G>A | CA376724135 | ERCC6 | c.2161C>T (p.Pro721Ser) n.2239C>T c.2002C>T (p.Pro668Ser) c.*553C>T (n.*553C>T) c.271C>T (p.Pro91Ser) | dbSNP |
10 | g.49482695G>C | CA376724136 | ERCC6 | c.2161C>G (p.Pro721Ala) n.2239C>G c.2002C>G (p.Pro668Ala) c.*553C>G (n.*553C>G) c.271C>G (p.Pro91Ala) | |
10 | g.49482695G= | CA1908760132 | ERCC6 | c.2161C= (p.Pro721=) n.2239C= c.2002C= (p.Pro668=) c.*553C= (n.*553C=) c.271C= (p.Pro91=) | |
10 | g.49482695G>T | CA376724134 | ERCC6 | c.2161C>A (p.Pro721Thr) n.2239C>A c.2002C>A (p.Pro668Thr) c.*553C>A (n.*553C>A) c.271C>A (p.Pro91Thr) | |
10 | g.49482696G>A | CA469603974 | ERCC6 | c.2160C>T (p.Ser720=) n.2238C>T c.2001C>T (p.Ser667=) c.*552C>T (n.*552C>T) c.270C>T (p.Ser90=) | |
10 | g.49482696G>C | CA469603976 | ERCC6 | c.2160C>G (p.Ser720=) n.2238C>G c.2001C>G (p.Ser667=) c.*552C>G (n.*552C>G) c.270C>G (p.Ser90=) | COSMIC |
10 | g.49482696G>T | CA469603975 | ERCC6 | c.2160C>A (p.Ser720=) n.2238C>A c.2001C>A (p.Ser667=) c.*552C>A (n.*552C>A) c.270C>A (p.Ser90=) | |
10 | g.49482697G>A | CA376724137 | ERCC6 | c.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 |
10 | g.49482697G>C | CA376724138 | ERCC6 | c.2159C>G (p.Ser720Cys) n.2237C>G c.2000C>G (p.Ser667Cys) c.*551C>G (n.*551C>G) c.269C>G (p.Ser90Cys) | |
10 | g.49482697G= | CA1908760135 | ERCC6 | c.2159C= (p.Ser720=) n.2237C= c.2000C= (p.Ser667=) c.*551C= (n.*551C=) c.269C= (p.Ser90=) | |
10 | g.49482697G>T | CA376724139 | ERCC6 | c.2159C>A (p.Ser720Tyr) n.2237C>A c.2000C>A (p.Ser667Tyr) c.*551C>A (n.*551C>A) c.269C>A (p.Ser90Tyr) | |
10 | g.49482698A>C | CA376724140 | ERCC6 | c.2158T>G (p.Ser720Ala) n.2236T>G c.1999T>G (p.Ser667Ala) c.*550T>G (n.*550T>G) c.268T>G (p.Ser90Ala) | |
10 | g.49482698A>G | CA376724141 | ERCC6 | c.2158T>C (p.Ser720Pro) n.2236T>C c.1999T>C (p.Ser667Pro) c.*550T>C (n.*550T>C) c.268T>C (p.Ser90Pro) | |
10 | g.49482698A>T | CA376724142 | ERCC6 | c.2158T>A (p.Ser720Thr) n.2236T>A c.1999T>A (p.Ser667Thr) c.*550T>A (n.*550T>A) c.268T>A (p.Ser90Thr) | |
10 | g.49482699A>C | CA469603978 | ERCC6 | c.2157T>G (p.Ala719=) n.2235T>G c.1998T>G (p.Ala666=) c.*549T>G (n.*549T>G) c.267T>G (p.Ala89=) | |
10 | g.49482699A>G | CA469603979 | ERCC6 | c.2157T>C (p.Ala719=) n.2235T>C c.1998T>C (p.Ala666=) c.*549T>C (n.*549T>C) c.267T>C (p.Ala89=) | |
10 | g.49482699A>T | CA469603977 | ERCC6 | c.2157T>A (p.Ala719=) n.2235T>A c.1998T>A (p.Ala666=) c.*549T>A (n.*549T>A) c.267T>A (p.Ala89=) | |
10 | g.49482700G>A | CA376724143 | ERCC6 | c.2156C>T (p.Ala719Val) n.2234C>T c.1997C>T (p.Ala666Val) c.*548C>T (n.*548C>T) c.266C>T (p.Ala89Val) | |
10 | g.49482700G>C | CA376724145 | ERCC6 | c.2156C>G (p.Ala719Gly) n.2234C>G c.1997C>G (p.Ala666Gly) c.*548C>G (n.*548C>G) c.266C>G (p.Ala89Gly) | |
10 | g.49482700G>T | CA376724144 | ERCC6 | c.2156C>A (p.Ala719Asp) n.2234C>A c.1997C>A (p.Ala666Asp) c.*548C>A (n.*548C>A) c.266C>A (p.Ala89Asp) | |
10 | g.49482701C>A | CA376724146 | ERCC6 | c.2155G>T (p.Ala719Ser) n.2233G>T c.1996G>T (p.Ala666Ser) c.*547G>T (n.*547G>T) c.265G>T (p.Ala89Ser) | |
10 | g.49482701C= | CA1908760137 | ERCC6 | c.2155G= (p.Ala719=) n.2233G= c.1996G= (p.Ala666=) c.*547G= (n.*547G=) c.265G= (p.Ala89=) | |
10 | g.49482701C>G | CA376724147 | ERCC6 | c.2155G>C (p.Ala719Pro) n.2233G>C c.1996G>C (p.Ala666Pro) c.*547G>C (n.*547G>C) c.265G>C (p.Ala89Pro) | |
10 | g.49482701C>T | CA376724148 | ERCC6 | c.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 |
10 | g.49482702A>C | CA376724149 | ERCC6 | c.2154T>G (p.Asn718Lys) n.2232T>G c.1995T>G (p.Asn665Lys) c.*546T>G (n.*546T>G) c.264T>G (p.Asn88Lys) | |
10 | g.49482702A>G | CA469603980 | ERCC6 | c.2154T>C (p.Asn718=) n.2232T>C c.1995T>C (p.Asn665=) c.*546T>C (n.*546T>C) c.264T>C (p.Asn88=) | |
10 | g.49482702A>T | CA376724150 | ERCC6 | c.2154T>A (p.Asn718Lys) n.2232T>A c.1995T>A (p.Asn665Lys) c.*546T>A (n.*546T>A) c.264T>A (p.Asn88Lys) | |
10 | g.49482703T>A | CA376724152 | ERCC6 | c.2153A>T (p.Asn718Ile) n.2231A>T c.1994A>T (p.Asn665Ile) c.*545A>T (n.*545A>T) c.263A>T (p.Asn88Ile) | |
10 | g.49482703T>C | CA376724153 | ERCC6 | c.2153A>G (p.Asn718Ser) n.2231A>G c.1994A>G (p.Asn665Ser) c.*545A>G (n.*545A>G) c.263A>G (p.Asn88Ser) | |
10 | g.49482703T>G | CA376724151 | ERCC6 | c.2153A>C (p.Asn718Thr) n.2231A>C c.1994A>C (p.Asn665Thr) c.*545A>C (n.*545A>C) c.263A>C (p.Asn88Thr) | |
10 | g.49482704T>A | CA376724154 | ERCC6 | c.2152A>T (p.Asn718Tyr) n.2230A>T c.1993A>T (p.Asn665Tyr) c.*544A>T (n.*544A>T) c.262A>T (p.Asn88Tyr) | |
10 | g.49482704T>C | CA376724156 | ERCC6 | c.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 |
10 | g.49482704T>G | CA376724155 | ERCC6 | c.2152A>C (p.Asn718His) n.2230A>C c.1993A>C (p.Asn665His) c.*544A>C (n.*544A>C) c.262A>C (p.Asn88His) | |
10 | g.49482705T>A | CA469603981 | ERCC6 | c.2151A>T (p.Ser717=) n.2229A>T c.1992A>T (p.Ser664=) c.*543A>T (n.*543A>T) c.261A>T (p.Ser87=) | |
10 | g.49482705T>C | CA469603982 | ERCC6 | c.2151A>G (p.Ser717=) n.2229A>G c.1992A>G (p.Ser664=) c.*543A>G (n.*543A>G) c.261A>G (p.Ser87=) | |
10 | g.49482705T>G | CA469603983 | ERCC6 | c.2151A>C (p.Ser717=) n.2229A>C c.1992A>C (p.Ser664=) c.*543A>C (n.*543A>C) c.261A>C (p.Ser87=) | |
10 | g.49482706G>A | CA376724157 | ERCC6 | c.2150C>T (p.Ser717Leu) n.2228C>T c.1991C>T (p.Ser664Leu) c.*542C>T (n.*542C>T) c.260C>T (p.Ser87Leu) | |
10 | g.49482706G>C | CA376724158 | ERCC6 | c.2150C>G (p.Ser717Ter) n.2228C>G c.1991C>G (p.Ser664Ter) c.*542C>G (n.*542C>G) c.260C>G (p.Ser87Ter) | |
10 | g.49482706G>T | CA376724159 | ERCC6 | c.2150C>A (p.Ser717Ter) n.2228C>A c.1991C>A (p.Ser664Ter) c.*542C>A (n.*542C>A) c.260C>A (p.Ser87Ter) | |
10 | g.49482707A>C | CA376724160 | ERCC6 | c.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 |
10 | g.49482707A>G | CA376724161 | ERCC6 | c.2149T>C (p.Ser717Pro) n.2227T>C c.1990T>C (p.Ser664Pro) c.*541T>C (n.*541T>C) c.259T>C (p.Ser87Pro) | |
10 | g.49482707A>T | CA376724162 | ERCC6 | c.2149T>A (p.Ser717Thr) n.2227T>A c.1990T>A (p.Ser664Thr) c.*541T>A (n.*541T>A) c.259T>A (p.Ser87Thr) | |
10 | g.49482708A>C | CA376724163 | ERCC6 | c.2148T>G (p.Tyr716Ter) n.2226T>G c.1989T>G (p.Tyr663Ter) c.*540T>G (n.*540T>G) c.258T>G (p.Tyr86Ter) | |
10 | g.49482708A>G | CA469603984 | ERCC6 | c.2148T>C (p.Tyr716=) n.2226T>C c.1989T>C (p.Tyr663=) c.*540T>C (n.*540T>C) c.258T>C (p.Tyr86=) | |
10 | g.49482708A>T | CA376724164 | ERCC6 | c.2148T>A (p.Tyr716Ter) n.2226T>A c.1989T>A (p.Tyr663Ter) c.*540T>A (n.*540T>A) c.258T>A (p.Tyr86Ter) | |
10 | g.49482709T>A | CA376724165 | ERCC6 | c.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 |
10 | g.49482709T>C | CA376724166 | ERCC6 | c.2147A>G (p.Tyr716Cys) n.2225A>G c.1988A>G (p.Tyr663Cys) c.*539A>G (n.*539A>G) c.257A>G (p.Tyr86Cys) | |
10 | g.49482709T>G | CA376724167 | ERCC6 | c.2147A>C (p.Tyr716Ser) n.2225A>C c.1988A>C (p.Tyr663Ser) c.*539A>C (n.*539A>C) c.257A>C (p.Tyr86Ser) | |
10 | g.49482709T= | CA1908760142 | ERCC6 | c.2147A= (p.Tyr716=) n.2225A= c.1988A= (p.Tyr663=) c.*539A= (n.*539A=) c.257A= (p.Tyr86=) | |
10 | g.49482710A>C | CA376724170 | ERCC6 | c.2146T>G (p.Tyr716Asp) n.2224T>G c.1987T>G (p.Tyr663Asp) c.*538T>G (n.*538T>G) c.256T>G (p.Tyr86Asp) | |
10 | g.49482710A>G | CA376724168 | ERCC6 | c.2146T>C (p.Tyr716His) n.2224T>C c.1987T>C (p.Tyr663His) c.*538T>C (n.*538T>C) c.256T>C (p.Tyr86His) | |
10 | g.49482710A>T | CA376724169 | ERCC6 | c.2146T>A (p.Tyr716Asn) n.2224T>A c.1987T>A (p.Tyr663Asn) c.*538T>A (n.*538T>A) c.256T>A (p.Tyr86Asn) | |
10 | g.49482710_49482711insC | CA645548752 | ERCC6 | c.2145_2146insG (p.Tyr716ValfsTer?) n.2223_2224insG c.1986_1987insG (p.Tyr663ValfsTer?) c.*537_*538insG (n.*537_*538insG) c.255_256insG (p.Tyr86ValfsTer?) | COSMIC |
10 | g.49482711del | CA2609138608 | ERCC6 | c.2145del (p.Tyr716IlefsTer23) n.2223del c.1986del (p.Tyr663IlefsTer23) c.*537del (n.*537del) c.255del (p.Tyr86IlefsTer23) | gnomAD v4 |
10 | g.49482711T>A | CA469603985 | ERCC6 | c.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 |
10 | g.49482711T>C | CA469603987 | ERCC6 | c.2145A>G (p.Gly715=) n.2223A>G c.1986A>G (p.Gly662=) c.*537A>G (n.*537A>G) c.255A>G (p.Gly85=) | ClinVar |
10 | g.49482711T>G | CA469603988 | ERCC6 | c.2145A>C (p.Gly715=) n.2223A>C c.1986A>C (p.Gly662=) c.*537A>C (n.*537A>C) c.255A>C (p.Gly85=) | |
10 | g.49482711_49482712delinsTC | CA1908760163 | ERCC6 | c.2144_2145delinsGA (p.Gly715=) n.2222_2223delinsGA c.1985_1986delinsGA (p.Gly662=) c.*536_*537delinsGA (n.*536_*537delinsGA) c.254_255delinsGA (p.Gly85=) | |
10 | g.49482711_49482712insG | CA469603989 | ERCC6 | c.2144_2145insC (p.Tyr716IlefsTer?) n.2222_2223insC c.1985_1986insC (p.Tyr663IlefsTer?) c.*536_*537insC (n.*536_*537insC) c.254_255insC (p.Tyr86IlefsTer?) | |
10 | g.49482712C>A | CA376724171 | ERCC6 | c.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 |
10 | g.49482712C>G | CA376724172 | ERCC6 | c.2144G>C (p.Gly715Ala) n.2222G>C c.1985G>C (p.Gly662Ala) c.*536G>C (n.*536G>C) c.254G>C (p.Gly85Ala) | |
10 | g.49482712C>T | CA376724173 | ERCC6 | c.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 |
10 | g.49482717dup | CA645548753 | ERCC6 | c.2144dup (p.Tyr716IlefsTer?) n.2222dup c.1985dup (p.Tyr663IlefsTer?) c.*536dup (n.*536dup) c.254dup (p.Tyr86IlefsTer?) | gnomAD v4 COSMIC |
10 | g.49482717del | CA1908760168 | ERCC6 | c.2144del (p.Gly715AspfsTer24) n.2222del c.1985del (p.Gly662AspfsTer24) c.*536del (n.*536del) c.254del (p.Gly85AspfsTer24) | ClinVar dbSNP |
10 | g.49482712_49482713insG | CA469603990 | ERCC6 | c.2143_2144insC (p.Gly715AlafsTer?) n.2221_2222insC c.1984_1985insC (p.Gly662AlafsTer?) c.*535_*536insC (n.*535_*536insC) c.253_254insC (p.Gly85AlafsTer?) | |
10 | g.49482713C>A | CA5495761 | ERCC6 | c.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 |
10 | g.49482713C= | CA1908760174 | ERCC6 | c.2143G= (p.Gly715=) n.2221G= c.1984G= (p.Gly662=) c.*535G= (n.*535G=) c.253G= (p.Gly85=) | |
10 | g.49482713C>G | CA376724174 | ERCC6 | c.2143G>C (p.Gly715Arg) n.2221G>C c.1984G>C (p.Gly662Arg) c.*535G>C (n.*535G>C) c.253G>C (p.Gly85Arg) | |
10 | g.49482713C>T | CA5495760 | ERCC6 | c.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 |
10 | g.49482714C>A | CA469603991 | ERCC6 | c.2142G>T (p.Gly714=) n.2220G>T c.1983G>T (p.Gly661=) c.*534G>T (n.*534G>T) c.252G>T (p.Gly84=) | |
10 | g.49482714C= | CA1908760191 | ERCC6 | c.2142G= (p.Gly714=) n.2220G= c.1983G= (p.Gly661=) c.*534G= (n.*534G=) c.252G= (p.Gly84=) | |
10 | g.49482714C>G | CA469603992 | ERCC6 | c.2142G>C (p.Gly714=) n.2220G>C c.1983G>C (p.Gly661=) c.*534G>C (n.*534G>C) c.252G>C (p.Gly84=) | |
10 | g.49482714C>T | CA5495762 | ERCC6 | c.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 |
10 | g.49482715C>A | CA376724175 | ERCC6 | c.2141G>T (p.Gly714Val) n.2219G>T c.1982G>T (p.Gly661Val) c.*533G>T (n.*533G>T) c.251G>T (p.Gly84Val) | |
10 | g.49482715C>G | CA376724176 | ERCC6 | c.2141G>C (p.Gly714Ala) n.2219G>C c.1982G>C (p.Gly661Ala) c.*533G>C (n.*533G>C) c.251G>C (p.Gly84Ala) | |
10 | g.49482715C>T | CA376724177 | ERCC6 | c.2141G>A (p.Gly714Glu) n.2219G>A c.1982G>A (p.Gly661Glu) c.*533G>A (n.*533G>A) c.251G>A (p.Gly84Glu) | |
10 | g.49482716C>A | CA376724179 | ERCC6 | c.2140G>T (p.Gly714Trp) n.2218G>T c.1981G>T (p.Gly661Trp) c.*532G>T (n.*532G>T) c.250G>T (p.Gly84Trp) | |
10 | g.49482716C>G | CA376724180 | ERCC6 | c.2140G>C (p.Gly714Arg) n.2218G>C c.1981G>C (p.Gly661Arg) c.*532G>C (n.*532G>C) c.250G>C (p.Gly84Arg) | |
10 | g.49482716C>T | CA376724178 | ERCC6 | c.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 |
10 | g.49482717C>A | CA376724181 | ERCC6 | c.2139G>T (p.Met713Ile) n.2217G>T c.1980G>T (p.Met660Ile) c.*531G>T (n.*531G>T) c.249G>T (p.Met83Ile) | |
10 | g.49482717C>G | CA376724182 | ERCC6 | c.2139G>C (p.Met713Ile) n.2217G>C c.1980G>C (p.Met660Ile) c.*531G>C (n.*531G>C) c.249G>C (p.Met83Ile) | |
10 | g.49482717C>T | CA376724183 | ERCC6 | c.2139G>A (p.Met713Ile) n.2217G>A c.1980G>A (p.Met660Ile) c.*531G>A (n.*531G>A) c.249G>A (p.Met83Ile) | COSMIC |
10 | g.49482718A= | CA1908760200 | ERCC6 | c.2138T= (p.Met713=) n.2216T= c.1979T= (p.Met660=) c.*530T= (n.*530T=) c.248T= (p.Met83=) | |
10 | g.49482718A>C | CA376724184 | ERCC6 | c.2138T>G (p.Met713Arg) n.2216T>G c.1979T>G (p.Met660Arg) c.*530T>G (n.*530T>G) c.248T>G (p.Met83Arg) | |
10 | g.49482718A>G | CA376724185 | ERCC6 | c.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 |
10 | g.49482718A>T | CA376724186 | ERCC6 | c.2138T>A (p.Met713Lys) n.2216T>A c.1979T>A (p.Met660Lys) c.*530T>A (n.*530T>A) c.248T>A (p.Met83Lys) | |
10 | g.49482719T>A | CA376724187 | ERCC6 | c.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 |
10 | g.49482719T>C | CA5495763 | ERCC6 | c.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 |
10 | g.49482719T>G | CA376724188 | ERCC6 | c.2137A>C (p.Met713Leu) n.2215A>C c.1978A>C (p.Met660Leu) c.*529A>C (n.*529A>C) c.247A>C (p.Met83Leu) | |
10 | g.49482719T= | CA1908760203 | ERCC6 | c.2137A= (p.Met713=) n.2215A= c.1978A= (p.Met660=) c.*529A= (n.*529A=) c.247A= (p.Met83=) | |
10 | g.49482720G>A | CA469603995 | ERCC6 | c.2136C>T (p.Thr712=) n.2214C>T c.1977C>T (p.Thr659=) c.*528C>T (n.*528C>T) c.246C>T (p.Thr82=) | |
10 | g.49482720G>C | CA469603993 | ERCC6 | c.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 |
10 | g.49482720G>T | CA469603994 | ERCC6 | c.2136C>A (p.Thr712=) n.2214C>A c.1977C>A (p.Thr659=) c.*528C>A (n.*528C>A) c.246C>A (p.Thr82=) | |
10 | g.49482721G>A | CA376724189 | ERCC6 | c.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 |
10 | g.49482721G>C | CA376724190 | ERCC6 | c.2135C>G (p.Thr712Ser) n.2213C>G c.1976C>G (p.Thr659Ser) c.*527C>G (n.*527C>G) c.245C>G (p.Thr82Ser) | COSMIC |
10 | g.49482721G>T | CA376724191 | ERCC6 | c.2135C>A (p.Thr712Asn) n.2213C>A c.1976C>A (p.Thr659Asn) c.*527C>A (n.*527C>A) c.245C>A (p.Thr82Asn) | COSMIC |
10 | g.49482722_49482723del | CA2580081547 | ERCC6 | c.2134_2135del (p.Thr712HisfsTer?) n.2212_2213del c.1975_1976del (p.Thr659HisfsTer?) c.*526_*527del (n.*526_*527del) c.244_245del (p.Thr82HisfsTer?) | ClinVar |
10 | g.49482722T>A | CA376724193 | ERCC6 | c.2134A>T (p.Thr712Ser) n.2212A>T c.1975A>T (p.Thr659Ser) c.*526A>T (n.*526A>T) c.244A>T (p.Thr82Ser) | |
10 | g.49482722T>C | CA376724194 | ERCC6 | c.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 |
10 | g.49482722T>G | CA376724192 | ERCC6 | c.2134A>C (p.Thr712Pro) n.2212A>C c.1975A>C (p.Thr659Pro) c.*526A>C (n.*526A>C) c.244A>C (p.Thr82Pro) | |
10 | g.49482723G>A | CA469603997 | ERCC6 | c.2133C>T (p.Ile711=) n.2211C>T c.1974C>T (p.Ile658=) c.*525C>T (n.*525C>T) c.243C>T (p.Ile81=) | |
10 | g.49482723G>C | CA376724195 | ERCC6 | c.2133C>G (p.Ile711Met) n.2211C>G c.1974C>G (p.Ile658Met) c.*525C>G (n.*525C>G) c.243C>G (p.Ile81Met) | |
10 | g.49482723G>T | CA469603998 | ERCC6 | c.2133C>A (p.Ile711=) n.2211C>A c.1974C>A (p.Ile658=) c.*525C>A (n.*525C>A) c.243C>A (p.Ile81=) | |
10 | g.49482724A>C | CA376724196 | ERCC6 | c.2132T>G (p.Ile711Ser) n.2210T>G c.1973T>G (p.Ile658Ser) c.*524T>G (n.*524T>G) c.242T>G (p.Ile81Ser) | |
10 | g.49482724A>G | CA376724197 | ERCC6 | c.2132T>C (p.Ile711Thr) n.2210T>C c.1973T>C (p.Ile658Thr) c.*524T>C (n.*524T>C) c.242T>C (p.Ile81Thr) | |
10 | g.49482724A>T | CA376724198 | ERCC6 | c.2132T>A (p.Ile711Asn) n.2210T>A c.1973T>A (p.Ile658Asn) c.*524T>A (n.*524T>A) c.242T>A (p.Ile81Asn) | |
10 | g.49482725T>A | CA376724201 | ERCC6 | c.2131A>T (p.Ile711Phe) n.2209A>T c.1972A>T (p.Ile658Phe) c.*523A>T (n.*523A>T) c.241A>T (p.Ile81Phe) | |
10 | g.49482725T>C | CA376724200 | ERCC6 | c.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 |
10 | g.49482725T>G | CA376724199 | ERCC6 | c.2131A>C (p.Ile711Leu) n.2209A>C c.1972A>C (p.Ile658Leu) c.*523A>C (n.*523A>C) c.241A>C (p.Ile81Leu) | |
10 | g.49482726G>A | CA469604000 | ERCC6 | c.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 |
10 | g.49482726G>C | CA469603999 | ERCC6 | c.2130C>G (p.Pro710=) n.2208C>G c.1971C>G (p.Pro657=) c.*522C>G (n.*522C>G) c.240C>G (p.Pro80=) | |
10 | g.49482726G>T | CA469604001 | ERCC6 | c.2130C>A (p.Pro710=) n.2208C>A c.1971C>A (p.Pro657=) c.*522C>A (n.*522C>A) c.240C>A (p.Pro80=) | |
10 | g.49482729del | CA2609138723 | ERCC6 | c.2130del (p.Ile711SerfsTer28) n.2208del c.1971del (p.Ile658SerfsTer28) c.*522del (n.*522del) c.240del (p.Ile81SerfsTer28) | gnomAD v4 |
10 | g.49482727G>A | CA376724202 | ERCC6 | c.2129C>T (p.Pro710Leu) n.2207C>T c.1970C>T (p.Pro657Leu) c.*521C>T (n.*521C>T) c.239C>T (p.Pro80Leu) | |
10 | g.49482727G>C | CA376724203 | ERCC6 | c.2129C>G (p.Pro710Arg) n.2207C>G c.1970C>G (p.Pro657Arg) c.*521C>G (n.*521C>G) c.239C>G (p.Pro80Arg) | |
10 | g.49482727G>T | CA376724204 | ERCC6 | c.2129C>A (p.Pro710His) n.2207C>A c.1970C>A (p.Pro657His) c.*521C>A (n.*521C>A) c.239C>A (p.Pro80His) | |
10 | g.49482728G>A | CA376724205 | ERCC6 | c.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 |
10 | g.49482728G>C | CA376724206 | ERCC6 | c.2128C>G (p.Pro710Ala) n.2206C>G c.1969C>G (p.Pro657Ala) c.*520C>G (n.*520C>G) c.238C>G (p.Pro80Ala) | ClinVar |
10 | g.49482728G>T | CA376724207 | ERCC6 | c.2128C>A (p.Pro710Thr) n.2206C>A c.1969C>A (p.Pro657Thr) c.*520C>A (n.*520C>A) c.238C>A (p.Pro80Thr) | |
10 | g.49482729G>A | CA469604003 | ERCC6 | c.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 |
10 | g.49482729G>C | CA469604004 | ERCC6 | c.2127C>G (p.Val709=) n.2205C>G c.1968C>G (p.Val656=) c.*519C>G (n.*519C>G) c.237C>G (p.Val79=) | |
10 | g.49482729G>T | CA469604002 | ERCC6 | c.2127C>A (p.Val709=) n.2205C>A c.1968C>A (p.Val656=) c.*519C>A (n.*519C>A) c.237C>A (p.Val79=) | |
10 | g.49482730A>C | CA376724210 | ERCC6 | c.2126T>G (p.Val709Gly) n.2204T>G c.1967T>G (p.Val656Gly) c.*518T>G (n.*518T>G) c.236T>G (p.Val79Gly) | |
10 | g.49482730A>G | CA376724209 | ERCC6 | c.2126T>C (p.Val709Ala) n.2204T>C c.1967T>C (p.Val656Ala) c.*518T>C (n.*518T>C) c.236T>C (p.Val79Ala) | |
10 | g.49482730A>T | CA376724208 | ERCC6 | c.2126T>A (p.Val709Asp) n.2204T>A c.1967T>A (p.Val656Asp) c.*518T>A (n.*518T>A) c.236T>A (p.Val79Asp) | |
10 | g.49482731C>A | CA376724211 | ERCC6 | c.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 |
10 | g.49482731C= | CA1908760208 | ERCC6 | c.2125G= (p.Val709=) n.2203G= c.1966G= (p.Val656=) c.*517G= (n.*517G=) c.235G= (p.Val79=) | |
10 | g.49482731C>G | CA376724212 | ERCC6 | c.2125G>C (p.Val709Leu) n.2203G>C c.1966G>C (p.Val656Leu) c.*517G>C (n.*517G>C) c.235G>C (p.Val79Leu) | |
10 | g.49482731C>T | CA5495764 | ERCC6 | c.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 |
10 | g.49482732G>A | CA5495765 | ERCC6 | c.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 |
10 | g.49482732G>C | CA469604005 | ERCC6 | c.2124C>G (p.Ser708=) n.2202C>G c.1965C>G (p.Ser655=) c.*516C>G (n.*516C>G) c.234C>G (p.Ser78=) | |
10 | g.49482732G= | CA1908760220 | ERCC6 | c.2124C= (p.Ser708=) n.2202C= c.1965C= (p.Ser655=) c.*516C= (n.*516C=) c.234C= (p.Ser78=) | |
10 | g.49482732G>T | CA469604006 | ERCC6 | c.2124C>A (p.Ser708=) n.2202C>A c.1965C>A (p.Ser655=) c.*516C>A (n.*516C>A) c.234C>A (p.Ser78=) | dbSNP |
10 | g.49482733G>A | CA376724213 | ERCC6 | c.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 |
10 | g.49482733G>C | CA376724214 | ERCC6 | c.2123C>G (p.Ser708Cys) n.2201C>G c.1964C>G (p.Ser655Cys) c.*515C>G (n.*515C>G) c.233C>G (p.Ser78Cys) | |
10 | g.49482733G= | CA1908760233 | ERCC6 | c.2123C= (p.Ser708=) n.2201C= c.1964C= (p.Ser655=) c.*515C= (n.*515C=) c.233C= (p.Ser78=) | |
10 | g.49482733G>T | CA376724215 | ERCC6 | c.2123C>A (p.Ser708Tyr) n.2201C>A c.1964C>A (p.Ser655Tyr) c.*515C>A (n.*515C>A) c.233C>A (p.Ser78Tyr) | |
10 | g.49482734A>C | CA376724216 | ERCC6 | c.2122T>G (p.Ser708Ala) n.2200T>G c.1963T>G (p.Ser655Ala) c.*514T>G (n.*514T>G) c.232T>G (p.Ser78Ala) | |
10 | g.49482734A>G | CA376724217 | ERCC6 | c.2122T>C (p.Ser708Pro) n.2200T>C c.1963T>C (p.Ser655Pro) c.*514T>C (n.*514T>C) c.232T>C (p.Ser78Pro) | |
10 | g.49482734A>T | CA376724218 | ERCC6 | c.2122T>A (p.Ser708Thr) n.2200T>A c.1963T>A (p.Ser655Thr) c.*514T>A (n.*514T>A) c.232T>A (p.Ser78Thr) | |
10 | g.49482734_49482738delinsAGAAC | CA1908760242 | ERCC6 | c.2118_2122delinsGTTCT (p.Gln706=) n.2196_2200delinsGTTCT c.1959_1963delinsGTTCT (p.Gln653=) c.*510_*514delinsGTTCT (n.*510_*514delinsGTTCT) c.228_232delinsGTTCT (p.Gln76=) | |
10 | g.49482735G>A | CA469604007 | ERCC6 | c.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 |
10 | g.49482735G>C | CA376724219 | ERCC6 | c.2121C>G (p.Phe707Leu) n.2199C>G c.1962C>G (p.Phe654Leu) c.*513C>G (n.*513C>G) c.231C>G (p.Phe77Leu) | |
10 | g.49482735G= | CA1908760248 | ERCC6 | c.2121C= (p.Phe707=) n.2199C= c.1962C= (p.Phe654=) c.*513C= (n.*513C=) c.231C= (p.Phe77=) | |
10 | g.49482735G>T | CA376724220 | ERCC6 | c.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 |
10 | g.49482735_49482738del | CA5495766 | ERCC6 | c.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 |
10 | g.49482736A>C | CA376724221 | ERCC6 | c.2120T>G (p.Phe707Cys) n.2198T>G c.1961T>G (p.Phe654Cys) c.*512T>G (n.*512T>G) c.230T>G (p.Phe77Cys) | |
10 | g.49482736A>G | CA376724222 | ERCC6 | c.2120T>C (p.Phe707Ser) n.2198T>C c.1961T>C (p.Phe654Ser) c.*512T>C (n.*512T>C) c.230T>C (p.Phe77Ser) | |
10 | g.49482736A>T | CA376724223 | ERCC6 | c.2120T>A (p.Phe707Tyr) n.2198T>A c.1961T>A (p.Phe654Tyr) c.*512T>A (n.*512T>A) c.230T>A (p.Phe77Tyr) | |
10 | g.49482737A= | CA1908760253 | ERCC6 | c.2119T= (p.Phe707=) n.2197T= c.1960T= (p.Phe654=) c.*511T= (n.*511T=) c.229T= (p.Phe77=) | |
10 | g.49482737A>C | CA376724224 | ERCC6 | c.2119T>G (p.Phe707Val) n.2197T>G c.1960T>G (p.Phe654Val) c.*511T>G (n.*511T>G) c.229T>G (p.Phe77Val) | |
10 | g.49482737A>G | CA376724226 | ERCC6 | c.2119T>C (p.Phe707Leu) n.2197T>C c.1960T>C (p.Phe654Leu) c.*511T>C (n.*511T>C) c.229T>C (p.Phe77Leu) | |
10 | g.49482737A>T | CA376724225 | ERCC6 | c.2119T>A (p.Phe707Ile) n.2197T>A c.1960T>A (p.Phe654Ile) c.*511T>A (n.*511T>A) c.229T>A (p.Phe77Ile) | dbSNP |
10 | g.49482738C>A | CA376724227 | ERCC6 | c.2118G>T (p.Gln706His) n.2196G>T c.1959G>T (p.Gln653His) c.*510G>T (n.*510G>T) c.228G>T (p.Gln76His) | |
10 | g.49482738C>G | CA376724228 | ERCC6 | c.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 |
10 | g.49482738C>T | CA469604008 | ERCC6 | c.2118G>A (p.Gln706=) n.2196G>A c.1959G>A (p.Gln653=) c.*510G>A (n.*510G>A) c.228G>A (p.Gln76=) | |
10 | g.49482739T>A | CA376724229 | ERCC6 | c.2117A>T (p.Gln706Leu) n.2195A>T c.1958A>T (p.Gln653Leu) c.*509A>T (n.*509A>T) c.227A>T (p.Gln76Leu) | COSMIC |
10 | g.49482739T>C | CA376724230 | ERCC6 | c.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 |
10 | g.49482739T>G | CA376724231 | ERCC6 | c.2117A>C (p.Gln706Pro) n.2195A>C c.1958A>C (p.Gln653Pro) c.*509A>C (n.*509A>C) c.227A>C (p.Gln76Pro) | |
10 | g.49482739T= | CA1908760258 | ERCC6 | c.2117A= (p.Gln706=) n.2195A= c.1958A= (p.Gln653=) c.*509A= (n.*509A=) c.227A= (p.Gln76=) | |
10 | g.49482740G>A | CA376724232 | ERCC6 | c.2116C>T (p.Gln706Ter) n.2194C>T c.1957C>T (p.Gln653Ter) c.*508C>T (n.*508C>T) c.226C>T (p.Gln76Ter) | |
10 | g.49482740G>C | CA376724233 | ERCC6 | c.2116C>G (p.Gln706Glu) n.2194C>G c.1957C>G (p.Gln653Glu) c.*508C>G (n.*508C>G) c.226C>G (p.Gln76Glu) | |
10 | g.49482740G>T | CA376724234 | ERCC6 | c.2116C>A (p.Gln706Lys) n.2194C>A c.1957C>A (p.Gln653Lys) c.*508C>A (n.*508C>A) c.226C>A (p.Gln76Lys) | |
10 | g.49482741C>A | CA376724235 | ERCC6 | c.2115G>T (p.Glu705Asp) n.2193G>T c.1956G>T (p.Glu652Asp) c.*507G>T (n.*507G>T) c.225G>T (p.Glu75Asp) | |
10 | g.49482741C>G | CA376724236 | ERCC6 | c.2115G>C (p.Glu705Asp) n.2193G>C c.1956G>C (p.Glu652Asp) c.*507G>C (n.*507G>C) c.225G>C (p.Glu75Asp) | |
10 | g.49482741C>T | CA469604009 | ERCC6 | c.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 |
10 | g.49482742T>A | CA376724238 | ERCC6 | c.2114A>T (p.Glu705Val) n.2192A>T c.1955A>T (p.Glu652Val) c.*506A>T (n.*506A>T) c.224A>T (p.Glu75Val) | |
10 | g.49482742T>C | CA5495767 | ERCC6 | c.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 |
10 | g.49482742T>G | CA376724237 | ERCC6 | c.2114A>C (p.Glu705Ala) n.2192A>C c.1955A>C (p.Glu652Ala) c.*506A>C (n.*506A>C) c.224A>C (p.Glu75Ala) | |
10 | g.49482742T= | CA1908760262 | ERCC6 | c.2114A= (p.Glu705=) n.2192A= c.1955A= (p.Glu652=) c.*506A= (n.*506A=) c.224A= (p.Glu75=) | |
10 | g.49482743C>A | CA376724241 | ERCC6 | c.2113G>T (p.Glu705Ter) n.2191G>T c.1954G>T (p.Glu652Ter) c.*505G>T (n.*505G>T) c.223G>T (p.Glu75Ter) | |
10 | g.49482743C>G | CA376724239 | ERCC6 | c.2113G>C (p.Glu705Gln) n.2191G>C c.1954G>C (p.Glu652Gln) c.*505G>C (n.*505G>C) c.223G>C (p.Glu75Gln) | |
10 | g.49482743C>T | CA376724240 | ERCC6 | c.2113G>A (p.Glu705Lys) n.2191G>A c.1954G>A (p.Glu652Lys) c.*505G>A (n.*505G>A) c.223G>A (p.Glu75Lys) | |
10 | g.49482744del | CA2609138793 | ERCC6 | c.2113del (p.Glu705SerfsTer?) n.2191del c.1954del (p.Glu652SerfsTer?) c.*505del (n.*505del) c.223del (p.Glu75SerfsTer?) | gnomAD v4 |
10 | g.49482744C>A | CA376724242 | ERCC6 | c.2112G>T (p.Met704Ile) n.2190G>T c.1953G>T (p.Met651Ile) c.*504G>T (n.*504G>T) c.222G>T (p.Met74Ile) | |
10 | g.49482744C= | CA1908760267 | ERCC6 | c.2112G= (p.Met704=) n.2190G= c.1953G= (p.Met651=) c.*504G= (n.*504G=) c.222G= (p.Met74=) | |
10 | g.49482744C>G | CA376724243 | ERCC6 | c.2112G>C (p.Met704Ile) n.2190G>C c.1953G>C (p.Met651Ile) c.*504G>C (n.*504G>C) c.222G>C (p.Met74Ile) | |
10 | g.49482744C>T | CA376724244 | ERCC6 | c.2112G>A (p.Met704Ile) n.2190G>A c.1953G>A (p.Met651Ile) c.*504G>A (n.*504G>A) c.222G>A (p.Met74Ile) | |
10 | g.49482745A>C | CA376724245 | ERCC6 | c.2111T>G (p.Met704Arg) n.2189T>G c.1952T>G (p.Met651Arg) c.*503T>G (n.*503T>G) c.221T>G (p.Met74Arg) | |
10 | g.49482745A>G | CA376724246 | ERCC6 | c.2111T>C (p.Met704Thr) n.2189T>C c.1952T>C (p.Met651Thr) c.*503T>C (n.*503T>C) c.221T>C (p.Met74Thr) | |
10 | g.49482745A>T | CA376724247 | ERCC6 | c.2111T>A (p.Met704Lys) n.2189T>A c.1952T>A (p.Met651Lys) c.*503T>A (n.*503T>A) c.221T>A (p.Met74Lys) | |
10 | g.49482745dup | CA666035635 | ERCC6 | c.2111dup (p.Met704IlefsTer?) n.2189dup c.1952dup (p.Met651IlefsTer?) c.*503dup (n.*503dup) c.221dup (p.Met74IlefsTer?) | dbSNP |
10 | g.49482746T>A | CA376724248 | ERCC6 | c.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 |
10 | g.49482746T>C | CA376724249 | ERCC6 | c.2110A>G (p.Met704Val) n.2188A>G c.1951A>G (p.Met651Val) c.*502A>G (n.*502A>G) c.220A>G (p.Met74Val) | |
10 | g.49482746T>G | CA376724250 | ERCC6 | c.2110A>C (p.Met704Leu) n.2188A>C c.1951A>C (p.Met651Leu) c.*502A>C (n.*502A>C) c.220A>C (p.Met74Leu) | |
10 | g.49482747A>C | CA376724251 | ERCC6 | c.2109T>G (p.Phe703Leu) n.2187T>G c.1950T>G (p.Phe650Leu) c.*501T>G (n.*501T>G) c.219T>G (p.Phe73Leu) | |
10 | g.49482747A>G | CA469604011 | ERCC6 | c.2109T>C (p.Phe703=) n.2187T>C c.1950T>C (p.Phe650=) c.*501T>C (n.*501T>C) c.219T>C (p.Phe73=) | |
10 | g.49482747A>T | CA376724252 | ERCC6 | c.2109T>A (p.Phe703Leu) n.2187T>A c.1950T>A (p.Phe650Leu) c.*501T>A (n.*501T>A) c.219T>A (p.Phe73Leu) | |
10 | g.49482748A>C | CA376724255 | ERCC6 | c.2108T>G (p.Phe703Cys) n.2186T>G c.1949T>G (p.Phe650Cys) c.*500T>G (n.*500T>G) c.218T>G (p.Phe73Cys) | |
10 | g.49482748A>G | CA376724253 | ERCC6 | c.2108T>C (p.Phe703Ser) n.2186T>C c.1949T>C (p.Phe650Ser) c.*500T>C (n.*500T>C) c.218T>C (p.Phe73Ser) | |
10 | g.49482748A>T | CA376724254 | ERCC6 | c.2108T>A (p.Phe703Tyr) n.2186T>A c.1949T>A (p.Phe650Tyr) c.*500T>A (n.*500T>A) c.218T>A (p.Phe73Tyr) | |
10 | g.49482749A>C | CA376724256 | ERCC6 | c.2107T>G (p.Phe703Val) n.2185T>G c.1948T>G (p.Phe650Val) c.*499T>G (n.*499T>G) c.217T>G (p.Phe73Val) | |
10 | g.49482749A>G | CA376724257 | ERCC6 | c.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 |
10 | g.49482749A>T | CA376724258 | ERCC6 | c.2107T>A (p.Phe703Ile) n.2185T>A c.1948T>A (p.Phe650Ile) c.*499T>A (n.*499T>A) c.217T>A (p.Phe73Ile) | |
10 | g.49482750del | CA2580081549 | ERCC6 | c.2106del (p.Phe703LeufsTer?) n.2184del c.1947del (p.Phe650LeufsTer?) c.*498del (n.*498del) c.216del (p.Phe73LeufsTer?) | ClinVar |
10 | g.49482750C>A | CA469604013 | ERCC6 | c.2106G>T (p.Val702=) n.2184G>T c.1947G>T (p.Val649=) c.*498G>T (n.*498G>T) c.216G>T (p.Val72=) | |
10 | g.49482750C= | CA1908760271 | ERCC6 | c.2106G= (p.Val702=) n.2184G= c.1947G= (p.Val649=) c.*498G= (n.*498G=) c.216G= (p.Val72=) | |
10 | g.49482750C>G | CA469604012 | ERCC6 | c.2106G>C (p.Val702=) n.2184G>C c.1947G>C (p.Val649=) c.*498G>C (n.*498G>C) c.216G>C (p.Val72=) | |
10 | g.49482750C>T | CA5495768 | ERCC6 | c.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 |
10 | g.49482751A>C | CA376724259 | ERCC6 | c.2105T>G (p.Val702Gly) n.2183T>G c.1946T>G (p.Val649Gly) c.*497T>G (n.*497T>G) c.215T>G (p.Val72Gly) | |
10 | g.49482751A>G | CA376724260 | ERCC6 | c.2105T>C (p.Val702Ala) n.2183T>C c.1946T>C (p.Val649Ala) c.*497T>C (n.*497T>C) c.215T>C (p.Val72Ala) | |
10 | g.49482751A>T | CA376724261 | ERCC6 | c.2105T>A (p.Val702Glu) n.2183T>A c.1946T>A (p.Val649Glu) c.*497T>A (n.*497T>A) c.215T>A (p.Val72Glu) | |
10 | g.49482752C>A | CA376724262 | ERCC6 | c.2104G>T (p.Val702Leu) n.2182G>T c.1945G>T (p.Val649Leu) c.*496G>T (n.*496G>T) c.214G>T (p.Val72Leu) | |
10 | g.49482752C>G | CA376724263 | ERCC6 | c.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 |
10 | g.49482752C>T | CA376724264 | ERCC6 | c.2104G>A (p.Val702Met) n.2182G>A c.1945G>A (p.Val649Met) c.*496G>A (n.*496G>A) c.214G>A (p.Val72Met) | |
10 | g.49482753A>C | CA469604015 | ERCC6 | c.2103T>G (p.Pro701=) n.2181T>G c.1944T>G (p.Pro648=) c.*495T>G (n.*495T>G) c.213T>G (p.Pro71=) | |
10 | g.49482753A>G | CA469604016 | ERCC6 | c.2103T>C (p.Pro701=) n.2181T>C c.1944T>C (p.Pro648=) c.*495T>C (n.*495T>C) c.213T>C (p.Pro71=) | |
10 | g.49482753A>T | CA469604014 | ERCC6 | c.2103T>A (p.Pro701=) n.2181T>A c.1944T>A (p.Pro648=) c.*495T>A (n.*495T>A) c.213T>A (p.Pro71=) | |
10 | g.49482754G>A | CA376724265 | ERCC6 | c.2102C>T (p.Pro701Leu) n.2180C>T c.1943C>T (p.Pro648Leu) c.*494C>T (n.*494C>T) c.212C>T (p.Pro71Leu) | |
10 | g.49482754G>C | CA376724266 | ERCC6 | c.2102C>G (p.Pro701Arg) n.2180C>G c.1943C>G (p.Pro648Arg) c.*494C>G (n.*494C>G) c.212C>G (p.Pro71Arg) | |
10 | g.49482754G>T | CA376724267 | ERCC6 | c.2102C>A (p.Pro701His) n.2180C>A c.1943C>A (p.Pro648His) c.*494C>A (n.*494C>A) c.212C>A (p.Pro71His) | |
10 | g.49482755_49482762del | CA2609138826 | ERCC6 | c.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 |
10 | g.49482755G>A | CA376724269 | ERCC6 | c.2101C>T (p.Pro701Ser) n.2179C>T c.1942C>T (p.Pro648Ser) c.*493C>T (n.*493C>T) c.211C>T (p.Pro71Ser) | |
10 | g.49482755G>C | CA376724270 | ERCC6 | c.2101C>G (p.Pro701Ala) n.2179C>G c.1942C>G (p.Pro648Ala) c.*493C>G (n.*493C>G) c.211C>G (p.Pro71Ala) | |
10 | g.49482755G>T | CA376724268 | ERCC6 | c.2101C>A (p.Pro701Thr) n.2179C>A c.1942C>A (p.Pro648Thr) c.*493C>A (n.*493C>A) c.211C>A (p.Pro71Thr) | |
10 | g.49482756C>A | CA376724271 | ERCC6 | c.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 |
10 | g.49482756C= | CA1908760274 | ERCC6 | c.2100G= (p.Leu700=) n.2178G= c.1941G= (p.Leu647=) c.*492G= (n.*492G=) c.210G= (p.Leu70=) | |
10 | g.49482756C>G | CA376724272 | ERCC6 | c.2100G>C (p.Leu700Phe) n.2178G>C c.1941G>C (p.Leu647Phe) c.*492G>C (n.*492G>C) c.210G>C (p.Leu70Phe) | |
10 | g.49482756C>T | CA469604017 | ERCC6 | c.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 |
10 | g.49482757A>C | CA376724273 | ERCC6 | c.2099T>G (p.Leu700Trp) n.2177T>G c.1940T>G (p.Leu647Trp) c.*491T>G (n.*491T>G) c.209T>G (p.Leu70Trp) | |
10 | g.49482757A>G | CA376724274 | ERCC6 | c.2099T>C (p.Leu700Ser) n.2177T>C c.1940T>C (p.Leu647Ser) c.*491T>C (n.*491T>C) c.209T>C (p.Leu70Ser) | COSMIC |
10 | g.49482757A>T | CA376724275 | ERCC6 | c.2099T>A (p.Leu700Ter) n.2177T>A c.1940T>A (p.Leu647Ter) c.*491T>A (n.*491T>A) c.209T>A (p.Leu70Ter) | |
10 | g.49482758A>C | CA376724276 | ERCC6 | c.2098T>G (p.Leu700Val) n.2176T>G c.1939T>G (p.Leu647Val) c.*490T>G (n.*490T>G) c.208T>G (p.Leu70Val) | |
10 | g.49482758A>G | CA469604018 | ERCC6 | c.2098T>C (p.Leu700=) n.2176T>C c.1939T>C (p.Leu647=) c.*490T>C (n.*490T>C) c.208T>C (p.Leu70=) | |
10 | g.49482758A>T | CA376724277 | ERCC6 | c.2098T>A (p.Leu700Met) n.2176T>A c.1939T>A (p.Leu647Met) c.*490T>A (n.*490T>A) c.208T>A (p.Leu70Met) | |
10 | g.49482759C>A | CA469604019 | ERCC6 | c.2097G>T (p.Thr699=) n.2175G>T c.1938G>T (p.Thr646=) c.*489G>T (n.*489G>T) c.207G>T (p.Thr69=) | |
10 | g.49482759C= | CA1908760284 | ERCC6 | c.2097G= (p.Thr699=) n.2175G= c.1938G= (p.Thr646=) c.*489G= (n.*489G=) c.207G= (p.Thr69=) | |
10 | g.49482759C>G | CA206595739 | ERCC6 | c.2097G>C (p.Thr699=) n.2175G>C c.1938G>C (p.Thr646=) c.*489G>C (n.*489G>C) c.207G>C (p.Thr69=) | dbSNP |
10 | g.49482759C>T | CA5495769 | ERCC6 | c.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 |
10 | g.49482760G>A | CA5495770 | ERCC6 | c.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 |
10 | g.49482760G>C | CA376724278 | ERCC6 | c.2096C>G (p.Thr699Arg) n.2174C>G c.1937C>G (p.Thr646Arg) c.*488C>G (n.*488C>G) c.206C>G (p.Thr69Arg) | |
10 | g.49482760G= | CA1908760296 | ERCC6 | c.2096C= (p.Thr699=) n.2174C= c.1937C= (p.Thr646=) c.*488C= (n.*488C=) c.206C= (p.Thr69=) | |
10 | g.49482760G>T | CA376724279 | ERCC6 | c.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 |
10 | g.49482760dup | CA274700 | ERCC6 | c.2096dup (p.Leu700ValfsTer?) n.2174dup c.1937dup (p.Leu647ValfsTer?) c.*488dup (n.*488dup) c.206dup (p.Leu70ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49482761T>A | CA376724282 | ERCC6 | c.2095A>T (p.Thr699Ser) n.2173A>T c.1936A>T (p.Thr646Ser) c.*487A>T (n.*487A>T) c.205A>T (p.Thr69Ser) | |
10 | g.49482761T>C | CA376724281 | ERCC6 | c.2095A>G (p.Thr699Ala) n.2173A>G c.1936A>G (p.Thr646Ala) c.*487A>G (n.*487A>G) c.205A>G (p.Thr69Ala) | dbSNP |
10 | g.49482761T>G | CA376724280 | ERCC6 | c.2095A>C (p.Thr699Pro) n.2173A>C c.1936A>C (p.Thr646Pro) c.*487A>C (n.*487A>C) c.205A>C (p.Thr69Pro) | |
10 | g.49482761T= | CA1908760304 | ERCC6 | c.2095A= (p.Thr699=) n.2173A= c.1936A= (p.Thr646=) c.*487A= (n.*487A=) c.205A= (p.Thr69=) |