Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
10g.49482766A>CCA376724291ERCC6c.2090T>G (p.Leu697Ter)
n.2168T>G
c.1931T>G (p.Leu644Ter)
c.*482T>G (n.*482T>G)
c.200T>G (p.Leu67Ter)
 gnomAD v4
10g.49482766A>GCA376724292ERCC6c.2090T>C (p.Leu697Ser)
n.2168T>C
c.1931T>C (p.Leu644Ser)
c.*482T>C (n.*482T>C)
c.200T>C (p.Leu67Ser)
10g.49482766A>TCA376724293ERCC6c.2090T>A (p.Leu697Ter)
n.2168T>A
c.1931T>A (p.Leu644Ter)
c.*482T>A (n.*482T>A)
c.200T>A (p.Leu67Ter)
10g.49482767A>CCA376724294ERCC6c.2089T>G (p.Leu697Val)
n.2167T>G
c.1930T>G (p.Leu644Val)
c.*481T>G (n.*481T>G)
c.199T>G (p.Leu67Val)
10g.49482767A>GCA469604024ERCC6c.2089T>C (p.Leu697=)
n.2167T>C
c.1930T>C (p.Leu644=)
c.*481T>C (n.*481T>C)
c.199T>C (p.Leu67=)
 COSMIC
10g.49482767A>TCA376724295ERCC6c.2089T>A (p.Leu697Ile)
n.2167T>A
c.1930T>A (p.Leu644Ile)
c.*481T>A (n.*481T>A)
c.199T>A (p.Leu67Ile)
10g.49482768C>ACA376724296ERCC6c.2088G>T (p.Lys696Asn)
n.2166G>T
c.1929G>T (p.Lys643Asn)
c.*480G>T (n.*480G>T)
c.198G>T (p.Lys66Asn)
10g.49482768C>GCA376724297ERCC6c.2088G>C (p.Lys696Asn)
n.2166G>C
c.1929G>C (p.Lys643Asn)
c.*480G>C (n.*480G>C)
c.198G>C (p.Lys66Asn)
10g.49482768C>TCA469604025ERCC6c.2088G>A (p.Lys696=)
n.2166G>A
c.1929G>A (p.Lys643=)
c.*480G>A (n.*480G>A)
c.198G>A (p.Lys66=)
10g.49482769T>ACA376724298ERCC6c.2087A>T (p.Lys696Met)
n.2165A>T
c.1928A>T (p.Lys643Met)
c.*479A>T (n.*479A>T)
c.197A>T (p.Lys66Met)
10g.49482769T>CCA376724299ERCC6c.2087A>G (p.Lys696Arg)
n.2165A>G
c.1928A>G (p.Lys643Arg)
c.*479A>G (n.*479A>G)
c.197A>G (p.Lys66Arg)
 dbSNP gnomAD v2
10g.49482769T>GCA376724300ERCC6c.2087A>C (p.Lys696Thr)
n.2165A>C
c.1928A>C (p.Lys643Thr)
c.*479A>C (n.*479A>C)
c.197A>C (p.Lys66Thr)
10g.49482769T=CA1908760321ERCC6c.2087A= (p.Lys696=)
n.2165A=
c.1928A= (p.Lys643=)
c.*479A= (n.*479A=)
c.197A= (p.Lys66=)
10g.49482770T>ACA376724301ERCC6c.2086A>T (p.Lys696Ter)
n.2164A>T
c.1927A>T (p.Lys643Ter)
c.*478A>T (n.*478A>T)
c.196A>T (p.Lys66Ter)
10g.49482770T>CCA376724302ERCC6c.2086A>G (p.Lys696Glu)
n.2164A>G
c.1927A>G (p.Lys643Glu)
c.*478A>G (n.*478A>G)
c.196A>G (p.Lys66Glu)
10g.49482770T>GCA376724303ERCC6c.2086A>C (p.Lys696Gln)
n.2164A>C
c.1927A>C (p.Lys643Gln)
c.*478A>C (n.*478A>C)
c.196A>C (p.Lys66Gln)
10g.49482771T>ACA469604026ERCC6c.2085A>T (p.Gly695=)
n.2163A>T
c.1926A>T (p.Gly642=)
c.*477A>T (n.*477A>T)
c.195A>T (p.Gly65=)
10g.49482771T>CCA206595743ERCC6c.2085A>G (p.Gly695=)
n.2163A>G
c.1926A>G (p.Gly642=)
c.*477A>G (n.*477A>G)
c.195A>G (p.Gly65=)
 ClinVar dbSNP gnomAD v4
10g.49482771T>GCA469604027ERCC6c.2085A>C (p.Gly695=)
n.2163A>C
c.1926A>C (p.Gly642=)
c.*477A>C (n.*477A>C)
c.195A>C (p.Gly65=)
10g.49482771T=CA1908760328ERCC6c.2085A= (p.Gly695=)
n.2163A=
c.1926A= (p.Gly642=)
c.*477A= (n.*477A=)
c.195A= (p.Gly65=)
10g.49482772C>ACA376724304ERCC6c.2084G>T (p.Gly695Val)
n.2162G>T
c.1925G>T (p.Gly642Val)
c.*476G>T (n.*476G>T)
c.194G>T (p.Gly65Val)
 COSMIC
10g.49482772C>GCA376724305ERCC6c.2084G>C (p.Gly695Ala)
n.2162G>C
c.1925G>C (p.Gly642Ala)
c.*476G>C (n.*476G>C)
c.194G>C (p.Gly65Ala)
10g.49482772C>TCA376724306ERCC6c.2084G>A (p.Gly695Glu)
n.2162G>A
c.1925G>A (p.Gly642Glu)
c.*476G>A (n.*476G>A)
c.194G>A (p.Gly65Glu)
10g.49482773C>ACA376724307ERCC6c.2083G>T (p.Gly695Ter)
n.2161G>T
c.1924G>T (p.Gly642Ter)
c.*475G>T (n.*475G>T)
c.193G>T (p.Gly65Ter)
10g.49482773C>GCA376724308ERCC6c.2083G>C (p.Gly695Arg)
n.2161G>C
c.1924G>C (p.Gly642Arg)
c.*475G>C (n.*475G>C)
c.193G>C (p.Gly65Arg)
10g.49482773C>TCA376724309ERCC6c.2083G>A (p.Gly695Arg)
n.2161G>A
c.1924G>A (p.Gly642Arg)
c.*475G>A (n.*475G>A)
c.193G>A (p.Gly65Arg)
10g.49482774C>ACA469604029ERCC6c.2082G>T (p.Pro694=)
n.2160G>T
c.1923G>T (p.Pro641=)
c.*474G>T (n.*474G>T)
c.192G>T (p.Pro64=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49482774C=CA1908760335ERCC6c.2082G= (p.Pro694=)
n.2160G=
c.1923G= (p.Pro641=)
c.*474G= (n.*474G=)
c.192G= (p.Pro64=)
10g.49482774C>GCA469604028ERCC6c.2082G>C (p.Pro694=)
n.2160G>C
c.1923G>C (p.Pro641=)
c.*474G>C (n.*474G>C)
c.192G>C (p.Pro64=)
10g.49482774C>TCA5495771ERCC6c.2082G>A (p.Pro694=)
n.2160G>A
c.1923G>A (p.Pro641=)
c.*474G>A (n.*474G>A)
c.192G>A (p.Pro64=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482775G>ACA5495772ERCC6c.2081C>T (p.Pro694Leu)
n.2159C>T
c.1922C>T (p.Pro641Leu)
c.*473C>T (n.*473C>T)
c.191C>T (p.Pro64Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482775G>CCA376724310ERCC6c.2081C>G (p.Pro694Arg)
n.2159C>G
c.1922C>G (p.Pro641Arg)
c.*473C>G (n.*473C>G)
c.191C>G (p.Pro64Arg)
10g.49482775G=CA1908760341ERCC6c.2081C= (p.Pro694=)
n.2159C=
c.1922C= (p.Pro641=)
c.*473C= (n.*473C=)
c.191C= (p.Pro64=)
10g.49482775G>TCA376724311ERCC6c.2081C>A (p.Pro694Gln)
n.2159C>A
c.1922C>A (p.Pro641Gln)
c.*473C>A (n.*473C>A)
c.191C>A (p.Pro64Gln)
10g.49482776G>ACA376724312ERCC6c.2080C>T (p.Pro694Ser)
n.2158C>T
c.1921C>T (p.Pro641Ser)
c.*472C>T (n.*472C>T)
c.190C>T (p.Pro64Ser)
 ClinVar
10g.49482776G>CCA376724313ERCC6c.2080C>G (p.Pro694Ala)
n.2158C>G
c.1921C>G (p.Pro641Ala)
c.*472C>G (n.*472C>G)
c.190C>G (p.Pro64Ala)
10g.49482776G>TCA376724314ERCC6c.2080C>A (p.Pro694Thr)
n.2158C>A
c.1921C>A (p.Pro641Thr)
c.*472C>A (n.*472C>A)
c.190C>A (p.Pro64Thr)
10g.49482777G>ACA5495773ERCC6c.2079C>T (p.Phe693=)
n.2157C>T
c.1920C>T (p.Phe640=)
c.*471C>T (n.*471C>T)
c.189C>T (p.Phe63=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482777G>CCA376724315ERCC6c.2079C>G (p.Phe693Leu)
n.2157C>G
c.1920C>G (p.Phe640Leu)
c.*471C>G (n.*471C>G)
c.189C>G (p.Phe63Leu)
10g.49482777G=CA1908760347ERCC6c.2079C= (p.Phe693=)
n.2157C=
c.1920C= (p.Phe640=)
c.*471C= (n.*471C=)
c.189C= (p.Phe63=)
10g.49482777G>TCA376724316ERCC6c.2079C>A (p.Phe693Leu)
n.2157C>A
c.1920C>A (p.Phe640Leu)
c.*471C>A (n.*471C>A)
c.189C>A (p.Phe63Leu)
10g.49482778A>CCA376724317ERCC6c.2078T>G (p.Phe693Cys)
n.2156T>G
c.1919T>G (p.Phe640Cys)
c.*470T>G (n.*470T>G)
c.188T>G (p.Phe63Cys)
10g.49482778A>GCA376724318ERCC6c.2078T>C (p.Phe693Ser)
n.2156T>C
c.1919T>C (p.Phe640Ser)
c.*470T>C (n.*470T>C)
c.188T>C (p.Phe63Ser)
10g.49482778A>TCA376724319ERCC6c.2078T>A (p.Phe693Tyr)
n.2156T>A
c.1919T>A (p.Phe640Tyr)
c.*470T>A (n.*470T>A)
c.188T>A (p.Phe63Tyr)
10g.49482779A=CA1908760352ERCC6c.2077T= (p.Phe693=)
n.2155T=
c.1918T= (p.Phe640=)
c.*469T= (n.*469T=)
c.187T= (p.Phe63=)
10g.49482779A>CCA376724320ERCC6c.2077T>G (p.Phe693Val)
n.2155T>G
c.1918T>G (p.Phe640Val)
c.*469T>G (n.*469T>G)
c.187T>G (p.Phe63Val)
10g.49482779A>GCA376724321ERCC6c.2077T>C (p.Phe693Leu)
n.2155T>C
c.1918T>C (p.Phe640Leu)
c.*469T>C (n.*469T>C)
c.187T>C (p.Phe63Leu)
10g.49482779A>TCA5495774ERCC6c.2077T>A (p.Phe693Ile)
n.2155T>A
c.1918T>A (p.Phe640Ile)
c.*469T>A (n.*469T>A)
c.187T>A (p.Phe63Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482780G>ACA5495775ERCC6c.2076C>T (p.Ile692=)
n.2154C>T
c.1917C>T (p.Ile639=)
c.*468C>T (n.*468C>T)
c.186C>T (p.Ile62=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482780G>CCA376724322ERCC6c.2076C>G (p.Ile692Met)
n.2154C>G
c.1917C>G (p.Ile639Met)
c.*468C>G (n.*468C>G)
c.186C>G (p.Ile62Met)
10g.49482780G=CA1908760359ERCC6c.2076C= (p.Ile692=)
n.2154C=
c.1917C= (p.Ile639=)
c.*468C= (n.*468C=)
c.186C= (p.Ile62=)
10g.49482780G>TCA469604030ERCC6c.2076C>A (p.Ile692=)
n.2154C>A
c.1917C>A (p.Ile639=)
c.*468C>A (n.*468C>A)
c.186C>A (p.Ile62=)
10g.49482781A>CCA376724323ERCC6c.2075T>G (p.Ile692Ser)
n.2153T>G
c.1916T>G (p.Ile639Ser)
c.*467T>G (n.*467T>G)
c.185T>G (p.Ile62Ser)
10g.49482781A>GCA376724325ERCC6c.2075T>C (p.Ile692Thr)
n.2153T>C
c.1916T>C (p.Ile639Thr)
c.*467T>C (n.*467T>C)
c.185T>C (p.Ile62Thr)
 gnomAD v4
10g.49482781A>TCA376724324ERCC6c.2075T>A (p.Ile692Asn)
n.2153T>A
c.1916T>A (p.Ile639Asn)
c.*467T>A (n.*467T>A)
c.185T>A (p.Ile62Asn)
10g.49482782T>ACA376724326ERCC6c.2074A>T (p.Ile692Phe)
n.2152A>T
c.1915A>T (p.Ile639Phe)
c.*466A>T (n.*466A>T)
c.184A>T (p.Ile62Phe)
10g.49482782T>CCA376724328ERCC6c.2074A>G (p.Ile692Val)
n.2152A>G
c.1915A>G (p.Ile639Val)
c.*466A>G (n.*466A>G)
c.184A>G (p.Ile62Val)
 gnomAD v4
10g.49482782T>GCA376724327ERCC6c.2074A>C (p.Ile692Leu)
n.2152A>C
c.1915A>C (p.Ile639Leu)
c.*466A>C (n.*466A>C)
c.184A>C (p.Ile62Leu)
10g.49482782T=CA1908760369ERCC6c.2074A= (p.Ile692=)
n.2152A=
c.1915A= (p.Ile639=)
c.*466A= (n.*466A=)
c.184A= (p.Ile62=)
10g.49482783G>ACA469604031ERCC6c.2073C>T (p.Phe691=)
n.2151C>T
c.1914C>T (p.Phe638=)
c.*465C>T (n.*465C>T)
c.183C>T (p.Phe61=)
 COSMIC
10g.49482783G>CCA376724329ERCC6c.2073C>G (p.Phe691Leu)
n.2151C>G
c.1914C>G (p.Phe638Leu)
c.*465C>G (n.*465C>G)
c.183C>G (p.Phe61Leu)
10g.49482783G>TCA376724330ERCC6c.2073C>A (p.Phe691Leu)
n.2151C>A
c.1914C>A (p.Phe638Leu)
c.*465C>A (n.*465C>A)
c.183C>A (p.Phe61Leu)
10g.49482796_49482797insGGAAGTCAAAGAGCGCA915945905ERCC6c.2073_2074insCCGCTCTTTGACTTC (p.Phe691_Ile692insProLeuPheAspPhe)
n.2151_2152insCCGCTCTTTGACTTC
c.1914_1915insCCGCTCTTTGACTTC (p.Phe638_Ile639insProLeuPheAspPhe)
c.*465_*466insCCGCTCTTTGACTTC (n.*465_*466insCCGCTCTTTGACTTC)
c.183_184insCCGCTCTTTGACTTC (p.Phe61_Ile62insProLeuPheAspPhe)
 ClinVar dbSNP
10g.49482784A>CCA376724331ERCC6c.2072T>G (p.Phe691Cys)
n.2150T>G
c.1913T>G (p.Phe638Cys)
c.*464T>G (n.*464T>G)
c.182T>G (p.Phe61Cys)
10g.49482784A>GCA376724333ERCC6c.2072T>C (p.Phe691Ser)
n.2150T>C
c.1913T>C (p.Phe638Ser)
c.*464T>C (n.*464T>C)
c.182T>C (p.Phe61Ser)
10g.49482784A>TCA376724332ERCC6c.2072T>A (p.Phe691Tyr)
n.2150T>A
c.1913T>A (p.Phe638Tyr)
c.*464T>A (n.*464T>A)
c.182T>A (p.Phe61Tyr)
 gnomAD v4
10g.49482785A=CA1908760377ERCC6c.2071T= (p.Phe691=)
n.2149T=
c.1912T= (p.Phe638=)
c.*463T= (n.*463T=)
c.181T= (p.Phe61=)
10g.49482785A>CCA376724334ERCC6c.2071T>G (p.Phe691Val)
n.2149T>G
c.1912T>G (p.Phe638Val)
c.*463T>G (n.*463T>G)
c.181T>G (p.Phe61Val)
 dbSNP
10g.49482785A>GCA376724335ERCC6c.2071T>C (p.Phe691Leu)
n.2149T>C
c.1912T>C (p.Phe638Leu)
c.*463T>C (n.*463T>C)
c.181T>C (p.Phe61Leu)
10g.49482785A>TCA376724336ERCC6c.2071T>A (p.Phe691Ile)
n.2149T>A
c.1912T>A (p.Phe638Ile)
c.*463T>A (n.*463T>A)
c.181T>A (p.Phe61Ile)
10g.49482786G>ACA469604032ERCC6c.2070C>T (p.Asp690=)
n.2148C>T
c.1911C>T (p.Asp637=)
c.*462C>T (n.*462C>T)
c.180C>T (p.Asp60=)
 ClinVar dbSNP gnomAD v4
10g.49482786G>CCA376724337ERCC6c.2070C>G (p.Asp690Glu)
n.2148C>G
c.1911C>G (p.Asp637Glu)
c.*462C>G (n.*462C>G)
c.180C>G (p.Asp60Glu)
10g.49482786G=CA1908760386ERCC6c.2070C= (p.Asp690=)
n.2148C=
c.1911C= (p.Asp637=)
c.*462C= (n.*462C=)
c.180C= (p.Asp60=)
10g.49482786G>TCA376724338ERCC6c.2070C>A (p.Asp690Glu)
n.2148C>A
c.1911C>A (p.Asp637Glu)
c.*462C>A (n.*462C>A)
c.180C>A (p.Asp60Glu)
10g.49482787T>ACA376724339ERCC6c.2069A>T (p.Asp690Val)
n.2147A>T
c.1910A>T (p.Asp637Val)
c.*461A>T (n.*461A>T)
c.179A>T (p.Asp60Val)
10g.49482787T>CCA376724340ERCC6c.2069A>G (p.Asp690Gly)
n.2147A>G
c.1910A>G (p.Asp637Gly)
c.*461A>G (n.*461A>G)
c.179A>G (p.Asp60Gly)
10g.49482787T>GCA376724341ERCC6c.2069A>C (p.Asp690Ala)
n.2147A>C
c.1910A>C (p.Asp637Ala)
c.*461A>C (n.*461A>C)
c.179A>C (p.Asp60Ala)
10g.49482788C>ACA376724342ERCC6c.2068G>T (p.Asp690Tyr)
n.2146G>T
c.1909G>T (p.Asp637Tyr)
c.*460G>T (n.*460G>T)
c.178G>T (p.Asp60Tyr)
10g.49482788C>GCA376724343ERCC6c.2068G>C (p.Asp690His)
n.2146G>C
c.1909G>C (p.Asp637His)
c.*460G>C (n.*460G>C)
c.178G>C (p.Asp60His)
10g.49482788C>TCA376724344ERCC6c.2068G>A (p.Asp690Asn)
n.2146G>A
c.1909G>A (p.Asp637Asn)
c.*460G>A (n.*460G>A)
c.178G>A (p.Asp60Asn)
10g.49482789A>CCA376724345ERCC6c.2067T>G (p.Phe689Leu)
n.2145T>G
c.1908T>G (p.Phe636Leu)
c.*459T>G (n.*459T>G)
c.177T>G (p.Phe59Leu)
10g.49482789A>GCA469604033ERCC6c.2067T>C (p.Phe689=)
n.2145T>C
c.1908T>C (p.Phe636=)
c.*459T>C (n.*459T>C)
c.177T>C (p.Phe59=)
10g.49482789A>TCA376724346ERCC6c.2067T>A (p.Phe689Leu)
n.2145T>A
c.1908T>A (p.Phe636Leu)
c.*459T>A (n.*459T>A)
c.177T>A (p.Phe59Leu)
10g.49482790_49482791delCA2573145160ERCC6c.2066_2067del (p.Phe689Ter)
n.2144_2145del
c.1907_1908del (p.Phe636Ter)
c.*458_*459del (n.*458_*459del)
c.176_177del (p.Phe59Ter)
 ClinVar dbSNP
10g.49482790A>CCA376724347ERCC6c.2066T>G (p.Phe689Cys)
n.2144T>G
c.1907T>G (p.Phe636Cys)
c.*458T>G (n.*458T>G)
c.176T>G (p.Phe59Cys)
10g.49482790A>GCA376724349ERCC6c.2066T>C (p.Phe689Ser)
n.2144T>C
c.1907T>C (p.Phe636Ser)
c.*458T>C (n.*458T>C)
c.176T>C (p.Phe59Ser)
10g.49482790A>TCA376724348ERCC6c.2066T>A (p.Phe689Tyr)
n.2144T>A
c.1907T>A (p.Phe636Tyr)
c.*458T>A (n.*458T>A)
c.176T>A (p.Phe59Tyr)
10g.49482791A>CCA376724350ERCC6c.2065T>G (p.Phe689Val)
n.2143T>G
c.1906T>G (p.Phe636Val)
c.*457T>G (n.*457T>G)
c.175T>G (p.Phe59Val)
10g.49482791A>GCA376724351ERCC6c.2065T>C (p.Phe689Leu)
n.2143T>C
c.1906T>C (p.Phe636Leu)
c.*457T>C (n.*457T>C)
c.175T>C (p.Phe59Leu)
10g.49482791A>TCA376724352ERCC6c.2065T>A (p.Phe689Ile)
n.2143T>A
c.1906T>A (p.Phe636Ile)
c.*457T>A (n.*457T>A)
c.175T>A (p.Phe59Ile)
10g.49482792G>ACA469604036ERCC6c.2064C>T (p.Leu688=)
n.2142C>T
c.1905C>T (p.Leu635=)
c.*456C>T (n.*456C>T)
c.174C>T (p.Leu58=)
10g.49482792G>CCA469604035ERCC6c.2064C>G (p.Leu688=)
n.2142C>G
c.1905C>G (p.Leu635=)
c.*456C>G (n.*456C>G)
c.174C>G (p.Leu58=)
10g.49482792G>TCA469604034ERCC6c.2064C>A (p.Leu688=)
n.2142C>A
c.1905C>A (p.Leu635=)
c.*456C>A (n.*456C>A)
c.174C>A (p.Leu58=)
10g.49482793A=CA1908760388ERCC6c.2063T= (p.Leu688=)
n.2141T=
c.1904T= (p.Leu635=)
c.*455T= (n.*455T=)
c.173T= (p.Leu58=)
10g.49482793A>CCA376724353ERCC6c.2063T>G (p.Leu688Arg)
n.2141T>G
c.1904T>G (p.Leu635Arg)
c.*455T>G (n.*455T>G)
c.173T>G (p.Leu58Arg)
10g.49482793A>GCA376724354ERCC6c.2063T>C (p.Leu688Pro)
n.2141T>C
c.1904T>C (p.Leu635Pro)
c.*455T>C (n.*455T>C)
c.173T>C (p.Leu58Pro)
 dbSNP gnomAD v4
10g.49482793A>TCA376724355ERCC6c.2063T>A (p.Leu688His)
n.2141T>A
c.1904T>A (p.Leu635His)
c.*455T>A (n.*455T>A)
c.173T>A (p.Leu58His)
10g.49482794G>ACA5495776ERCC6c.2062C>T (p.Leu688Phe)
n.2140C>T
c.1903C>T (p.Leu635Phe)
c.*454C>T (n.*454C>T)
c.172C>T (p.Leu58Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482794G>CCA376724356ERCC6c.2062C>G (p.Leu688Val)
n.2140C>G
c.1903C>G (p.Leu635Val)
c.*454C>G (n.*454C>G)
c.172C>G (p.Leu58Val)
10g.49482794G=CA1908760391ERCC6c.2062C= (p.Leu688=)
n.2140C=
c.1903C= (p.Leu635=)
c.*454C= (n.*454C=)
c.172C= (p.Leu58=)
10g.49482794G>TCA376724357ERCC6c.2062C>A (p.Leu688Ile)
n.2140C>A
c.1903C>A (p.Leu635Ile)
c.*454C>A (n.*454C>A)
c.172C>A (p.Leu58Ile)
10g.49482795C>ACA5495778ERCC6c.2061G>T (p.Ser687=)
n.2139G>T
c.1902G>T (p.Ser634=)
c.*453G>T (n.*453G>T)
c.171G>T (p.Ser57=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482795C=CA1908760397ERCC6c.2061G= (p.Ser687=)
n.2139G=
c.1902G= (p.Ser634=)
c.*453G= (n.*453G=)
c.171G= (p.Ser57=)
10g.49482795C>GCA469604037ERCC6c.2061G>C (p.Ser687=)
n.2139G>C
c.1902G>C (p.Ser634=)
c.*453G>C (n.*453G>C)
c.171G>C (p.Ser57=)
 gnomAD v4
10g.49482795C>TCA5495777ERCC6c.2061G>A (p.Ser687=)
n.2139G>A
c.1902G>A (p.Ser634=)
c.*453G>A (n.*453G>A)
c.171G>A (p.Ser57=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482796G>ACA206595753ERCC6c.2060C>T (p.Ser687Leu)
n.2138C>T
c.1901C>T (p.Ser634Leu)
c.*452C>T (n.*452C>T)
c.170C>T (p.Ser57Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49482796G>CCA376724359ERCC6c.2060C>G (p.Ser687Trp)
n.2138C>G
c.1901C>G (p.Ser634Trp)
c.*452C>G (n.*452C>G)
c.170C>G (p.Ser57Trp)
 COSMIC
10g.49482796G=CA1908760404ERCC6c.2060C= (p.Ser687=)
n.2138C=
c.1901C= (p.Ser634=)
c.*452C= (n.*452C=)
c.170C= (p.Ser57=)
10g.49482796G>TCA376724358ERCC6c.2060C>A (p.Ser687Ter)
n.2138C>A
c.1901C>A (p.Ser634Ter)
c.*452C>A (n.*452C>A)
c.170C>A (p.Ser57Ter)
 gnomAD v4
10g.49482797A>CCA376724362ERCC6c.2059T>G (p.Ser687Ala)
n.2137T>G
c.1900T>G (p.Ser634Ala)
c.*451T>G (n.*451T>G)
c.169T>G (p.Ser57Ala)
10g.49482797A>GCA376724360ERCC6c.2059T>C (p.Ser687Pro)
n.2137T>C
c.1900T>C (p.Ser634Pro)
c.*451T>C (n.*451T>C)
c.169T>C (p.Ser57Pro)
10g.49482797A>TCA376724361ERCC6c.2059T>A (p.Ser687Thr)
n.2137T>A
c.1900T>A (p.Ser634Thr)
c.*451T>A (n.*451T>A)
c.169T>A (p.Ser57Thr)
10g.49482798C>ACA376724363ERCC6c.2058G>T (p.Trp686Cys)
n.2136G>T
c.1899G>T (p.Trp633Cys)
c.*450G>T (n.*450G>T)
c.168G>T (p.Trp56Cys)
 gnomAD v4
10g.49482798C=CA1908760416ERCC6c.2058G= (p.Trp686=)
n.2136G=
c.1899G= (p.Trp633=)
c.*450G= (n.*450G=)
c.168G= (p.Trp56=)
10g.49482798C>GCA5495779ERCC6c.2058G>C (p.Trp686Cys)
n.2136G>C
c.1899G>C (p.Trp633Cys)
c.*450G>C (n.*450G>C)
c.168G>C (p.Trp56Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482798C>TCA376724364ERCC6c.2058G>A (p.Trp686Ter)
n.2136G>A
c.1899G>A (p.Trp633Ter)
c.*450G>A (n.*450G>A)
c.168G>A (p.Trp56Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49482799C>ACA376724365ERCC6c.2057G>T (p.Trp686Leu)
n.2135G>T
c.1898G>T (p.Trp633Leu)
c.*449G>T (n.*449G>T)
c.167G>T (p.Trp56Leu)
10g.49482799C>GCA376724366ERCC6c.2057G>C (p.Trp686Ser)
n.2135G>C
c.1898G>C (p.Trp633Ser)
c.*449G>C (n.*449G>C)
c.167G>C (p.Trp56Ser)
10g.49482799C>TCA376724367ERCC6c.2057G>A (p.Trp686Ter)
n.2135G>A
c.1898G>A (p.Trp633Ter)
c.*449G>A (n.*449G>A)
c.167G>A (p.Trp56Ter)
10g.49482800A=CA1908760424ERCC6c.2056T= (p.Trp686=)
n.2134T=
c.1897T= (p.Trp633=)
c.*448T= (n.*448T=)
c.166T= (p.Trp56=)
10g.49482800A>CCA376724368ERCC6c.2056T>G (p.Trp686Gly)
n.2134T>G
c.1897T>G (p.Trp633Gly)
c.*448T>G (n.*448T>G)
c.166T>G (p.Trp56Gly)
10g.49482800A>GCA376724369ERCC6c.2056T>C (p.Trp686Arg)
n.2134T>C
c.1897T>C (p.Trp633Arg)
c.*448T>C (n.*448T>C)
c.166T>C (p.Trp56Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49482800A>TCA376724370ERCC6c.2056T>A (p.Trp686Arg)
n.2134T>A
c.1897T>A (p.Trp633Arg)
c.*448T>A (n.*448T>A)
c.166T>A (p.Trp56Arg)
10g.49482801C>ACA469604040ERCC6c.2055G>T (p.Leu685=)
n.2133G>T
c.1896G>T (p.Leu632=)
c.*447G>T (n.*447G>T)
c.165G>T (p.Leu55=)
10g.49482801C=CA1908760428ERCC6c.2055G= (p.Leu685=)
n.2133G=
c.1896G= (p.Leu632=)
c.*447G= (n.*447G=)
c.165G= (p.Leu55=)
10g.49482801C>GCA469604038ERCC6c.2055G>C (p.Leu685=)
n.2133G>C
c.1896G>C (p.Leu632=)
c.*447G>C (n.*447G>C)
c.165G>C (p.Leu55=)
10g.49482801C>TCA469604039ERCC6c.2055G>A (p.Leu685=)
n.2133G>A
c.1896G>A (p.Leu632=)
c.*447G>A (n.*447G>A)
c.165G>A (p.Leu55=)
 dbSNP gnomAD v3 gnomAD v4
10g.49482802A=CA1908760431ERCC6c.2054T= (p.Leu685=)
n.2132T=
c.1895T= (p.Leu632=)
c.*446T= (n.*446T=)
c.164T= (p.Leu55=)
10g.49482802A>CCA376724371ERCC6c.2054T>G (p.Leu685Arg)
n.2132T>G
c.1895T>G (p.Leu632Arg)
c.*446T>G (n.*446T>G)
c.164T>G (p.Leu55Arg)
10g.49482802A>GCA376724372ERCC6c.2054T>C (p.Leu685Pro)
n.2132T>C
c.1895T>C (p.Leu632Pro)
c.*446T>C (n.*446T>C)
c.164T>C (p.Leu55Pro)
 ClinVar dbSNP
10g.49482802A>TCA376724373ERCC6c.2054T>A (p.Leu685Gln)
n.2132T>A
c.1895T>A (p.Leu632Gln)
c.*446T>A (n.*446T>A)
c.164T>A (p.Leu55Gln)
10g.49482803G>ACA469604041ERCC6c.2053C>T (p.Leu685=)
n.2131C>T
c.1894C>T (p.Leu632=)
c.*445C>T (n.*445C>T)
c.163C>T (p.Leu55=)
 ClinVar gnomAD v4
10g.49482803G>CCA206595759ERCC6c.2053C>G (p.Leu685Val)
n.2131C>G
c.1894C>G (p.Leu632Val)
c.*445C>G (n.*445C>G)
c.163C>G (p.Leu55Val)
 dbSNP gnomAD v2 gnomAD v4
10g.49482803G=CA1908760441ERCC6c.2053C= (p.Leu685=)
n.2131C=
c.1894C= (p.Leu632=)
c.*445C= (n.*445C=)
c.163C= (p.Leu55=)
10g.49482803G>TCA376724374ERCC6c.2053C>A (p.Leu685Met)
n.2131C>A
c.1894C>A (p.Leu632Met)
c.*445C>A (n.*445C>A)
c.163C>A (p.Leu55Met)
10g.49482804C>ACA376724375ERCC6c.2052G>T (p.Glu684Asp)
n.2130G>T
c.1893G>T (p.Glu631Asp)
c.*444G>T (n.*444G>T)
c.162G>T (p.Glu54Asp)
10g.49482804C>GCA376724376ERCC6c.2052G>C (p.Glu684Asp)
n.2130G>C
c.1893G>C (p.Glu631Asp)
c.*444G>C (n.*444G>C)
c.162G>C (p.Glu54Asp)
10g.49482804C>TCA469604042ERCC6c.2052G>A (p.Glu684=)
n.2130G>A
c.1893G>A (p.Glu631=)
c.*444G>A (n.*444G>A)
c.162G>A (p.Glu54=)
 ClinVar dbSNP gnomAD v4
10g.49482805T>ACA376724377ERCC6c.2051A>T (p.Glu684Val)
n.2129A>T
c.1892A>T (p.Glu631Val)
c.*443A>T (n.*443A>T)
c.161A>T (p.Glu54Val)
10g.49482805T>CCA376724378ERCC6c.2051A>G (p.Glu684Gly)
n.2129A>G
c.1892A>G (p.Glu631Gly)
c.*443A>G (n.*443A>G)
c.161A>G (p.Glu54Gly)
10g.49482805T>GCA376724379ERCC6c.2051A>C (p.Glu684Ala)
n.2129A>C
c.1892A>C (p.Glu631Ala)
c.*443A>C (n.*443A>C)
c.161A>C (p.Glu54Ala)
10g.49482806C>ACA376724380ERCC6c.2050G>T (p.Glu684Ter)
n.2128G>T
c.1891G>T (p.Glu631Ter)
c.*442G>T (n.*442G>T)
c.160G>T (p.Glu54Ter)
10g.49482806C>GCA376724381ERCC6c.2050G>C (p.Glu684Gln)
n.2128G>C
c.1891G>C (p.Glu631Gln)
c.*442G>C (n.*442G>C)
c.160G>C (p.Glu54Gln)
10g.49482806C>TCA376724382ERCC6c.2050G>A (p.Glu684Lys)
n.2128G>A
c.1891G>A (p.Glu631Lys)
c.*442G>A (n.*442G>A)
c.160G>A (p.Glu54Lys)
10g.49482807T>ACA469604043ERCC6c.2049A>T (p.Arg683=)
n.2127A>T
c.1890A>T (p.Arg630=)
c.*441A>T (n.*441A>T)
c.159A>T (p.Arg53=)
10g.49482807T>CCA469604044ERCC6c.2049A>G (p.Arg683=)
n.2127A>G
c.1890A>G (p.Arg630=)
c.*441A>G (n.*441A>G)
c.159A>G (p.Arg53=)
10g.49482807T>GCA469604045ERCC6c.2049A>C (p.Arg683=)
n.2127A>C
c.1890A>C (p.Arg630=)
c.*441A>C (n.*441A>C)
c.159A>C (p.Arg53=)
10g.49482808C>ACA376724383ERCC6c.2048G>T (p.Arg683Leu)
n.2126G>T
c.1889G>T (p.Arg630Leu)
c.*440G>T (n.*440G>T)
c.158G>T (p.Arg53Leu)
10g.49482808C=CA1908760451ERCC6c.2048G= (p.Arg683=)
n.2126G=
c.1889G= (p.Arg630=)
c.*440G= (n.*440G=)
c.158G= (p.Arg53=)
10g.49482808C>GCA376724384ERCC6c.2048G>C (p.Arg683Pro)
n.2126G>C
c.1889G>C (p.Arg630Pro)
c.*440G>C (n.*440G>C)
c.158G>C (p.Arg53Pro)
10g.49482808C>TCA239092ERCC6c.2048G>A (p.Arg683Gln)
n.2126G>A
c.1889G>A (p.Arg630Gln)
c.*440G>A (n.*440G>A)
c.158G>A (p.Arg53Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482809G>ACA115159ERCC6c.2047C>T (p.Arg683Ter)
n.2125C>T
c.1888C>T (p.Arg630Ter)
c.*439C>T (n.*439C>T)
c.157C>T (p.Arg53Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482809G>CCA376724385ERCC6c.2047C>G (p.Arg683Gly)
n.2125C>G
c.1888C>G (p.Arg630Gly)
c.*439C>G (n.*439C>G)
c.157C>G (p.Arg53Gly)
 ClinVar
10g.49482809G=CA1908760460ERCC6c.2047C= (p.Arg683=)
n.2125C=
c.1888C= (p.Arg630=)
c.*439C= (n.*439C=)
c.157C= (p.Arg53=)
10g.49482809G>TCA469604046ERCC6c.2047C>A (p.Arg683=)
n.2125C>A
c.1888C>A (p.Arg630=)
c.*439C>A (n.*439C>A)
c.157C>A (p.Arg53=)
 gnomAD v4
10g.49482810G>ACA469604048ERCC6c.2046C>T (p.Leu682=)
n.2124C>T
c.1887C>T (p.Leu629=)
c.*438C>T (n.*438C>T)
c.156C>T (p.Leu52=)
 ClinVar dbSNP COSMIC
10g.49482810G>CCA469604047ERCC6c.2046C>G (p.Leu682=)
n.2124C>G
c.1887C>G (p.Leu629=)
c.*438C>G (n.*438C>G)
c.156C>G (p.Leu52=)
10g.49482810G>TCA469604049ERCC6c.2046C>A (p.Leu682=)
n.2124C>A
c.1887C>A (p.Leu629=)
c.*438C>A (n.*438C>A)
c.156C>A (p.Leu52=)
10g.49482811A>CCA376724387ERCC6c.2045T>G (p.Leu682Arg)
n.2123T>G
c.1886T>G (p.Leu629Arg)
c.*437T>G (n.*437T>G)
c.155T>G (p.Leu52Arg)
 COSMIC
10g.49482811A>GCA376724388ERCC6c.2045T>C (p.Leu682Pro)
n.2123T>C
c.1886T>C (p.Leu629Pro)
c.*437T>C (n.*437T>C)
c.155T>C (p.Leu52Pro)
10g.49482811A>TCA376724386ERCC6c.2045T>A (p.Leu682His)
n.2123T>A
c.1886T>A (p.Leu629His)
c.*437T>A (n.*437T>A)
c.155T>A (p.Leu52His)
10g.49482812G>ACA5495780ERCC6c.2044C>T (p.Leu682Phe)
n.2122C>T
c.1885C>T (p.Leu629Phe)
c.*436C>T (n.*436C>T)
c.154C>T (p.Leu52Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482812G>CCA376724390ERCC6c.2044C>G (p.Leu682Val)
n.2122C>G
c.1885C>G (p.Leu629Val)
c.*436C>G (n.*436C>G)
c.154C>G (p.Leu52Val)
10g.49482812G=CA1908760468ERCC6c.2044C= (p.Leu682=)
n.2122C=
c.1885C= (p.Leu629=)
c.*436C= (n.*436C=)
c.154C= (p.Leu52=)
10g.49482812G>TCA376724389ERCC6c.2044C>A (p.Leu682Ile)
n.2122C>A
c.1885C>A (p.Leu629Ile)
c.*436C>A (n.*436C>A)
c.154C>A (p.Leu52Ile)
10g.49482813G>ACA469604050ERCC6c.2043C>T (p.Asn681=)
n.2121C>T
c.1884C>T (p.Asn628=)
c.*435C>T (n.*435C>T)
c.153C>T (p.Asn51=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49482813G>CCA376724391ERCC6c.2043C>G (p.Asn681Lys)
n.2121C>G
c.1884C>G (p.Asn628Lys)
c.*435C>G (n.*435C>G)
c.153C>G (p.Asn51Lys)
10g.49482813G=CA1908760473ERCC6c.2043C= (p.Asn681=)
n.2121C=
c.1884C= (p.Asn628=)
c.*435C= (n.*435C=)
c.153C= (p.Asn51=)
10g.49482813G>TCA376724392ERCC6c.2043C>A (p.Asn681Lys)
n.2121C>A
c.1884C>A (p.Asn628Lys)
c.*435C>A (n.*435C>A)
c.153C>A (p.Asn51Lys)
 dbSNP gnomAD v4
10g.49482814T>ACA376724393ERCC6c.2042A>T (p.Asn681Ile)
n.2120A>T
c.1883A>T (p.Asn628Ile)
c.*434A>T (n.*434A>T)
c.152A>T (p.Asn51Ile)
10g.49482814T>CCA376724394ERCC6c.2042A>G (p.Asn681Ser)
n.2120A>G
c.1883A>G (p.Asn628Ser)
c.*434A>G (n.*434A>G)
c.152A>G (p.Asn51Ser)
10g.49482814T>GCA376724395ERCC6c.2042A>C (p.Asn681Thr)
n.2120A>C
c.1883A>C (p.Asn628Thr)
c.*434A>C (n.*434A>C)
c.152A>C (p.Asn51Thr)
10g.49482815T>ACA376724396ERCC6c.2041A>T (p.Asn681Tyr)
n.2119A>T
c.1882A>T (p.Asn628Tyr)
c.*433A>T (n.*433A>T)
c.151A>T (p.Asn51Tyr)
10g.49482815T>CCA376724397ERCC6c.2041A>G (p.Asn681Asp)
n.2119A>G
c.1882A>G (p.Asn628Asp)
c.*433A>G (n.*433A>G)
c.151A>G (p.Asn51Asp)
 gnomAD v4
10g.49482815T>GCA376724398ERCC6c.2041A>C (p.Asn681His)
n.2119A>C
c.1882A>C (p.Asn628His)
c.*433A>C (n.*433A>C)
c.151A>C (p.Asn51His)
10g.49482816A>CCA376724399ERCC6c.2040T>G (p.Asn680Lys)
n.2118T>G
c.1881T>G (p.Asn627Lys)
c.*432T>G (n.*432T>G)
c.150T>G (p.Asn50Lys)
10g.49482816A>GCA469604051ERCC6c.2040T>C (p.Asn680=)
n.2118T>C
c.1881T>C (p.Asn627=)
c.*432T>C (n.*432T>C)
c.150T>C (p.Asn50=)
10g.49482816A>TCA376724400ERCC6c.2040T>A (p.Asn680Lys)
n.2118T>A
c.1881T>A (p.Asn627Lys)
c.*432T>A (n.*432T>A)
c.150T>A (p.Asn50Lys)
10g.49482817T>ACA376724403ERCC6c.2039A>T (p.Asn680Ile)
n.2117A>T
c.1880A>T (p.Asn627Ile)
c.*431A>T (n.*431A>T)
c.149A>T (p.Asn50Ile)
10g.49482817T>CCA376724402ERCC6c.2039A>G (p.Asn680Ser)
n.2117A>G
c.1880A>G (p.Asn627Ser)
c.*431A>G (n.*431A>G)
c.149A>G (p.Asn50Ser)
10g.49482817T>GCA376724401ERCC6c.2039A>C (p.Asn680Thr)
n.2117A>C
c.1880A>C (p.Asn627Thr)
c.*431A>C (n.*431A>C)
c.149A>C (p.Asn50Thr)
10g.49482818T>ACA376724404ERCC6c.2038A>T (p.Asn680Tyr)
n.2116A>T
c.1879A>T (p.Asn627Tyr)
c.*430A>T (n.*430A>T)
c.148A>T (p.Asn50Tyr)
10g.49482818T>CCA376724405ERCC6c.2038A>G (p.Asn680Asp)
n.2116A>G
c.1879A>G (p.Asn627Asp)
c.*430A>G (n.*430A>G)
c.148A>G (p.Asn50Asp)
 ClinVar dbSNP gnomAD v4
10g.49482818T>GCA376724406ERCC6c.2038A>C (p.Asn680His)
n.2116A>C
c.1879A>C (p.Asn627His)
c.*430A>C (n.*430A>C)
c.148A>C (p.Asn50His)
10g.49482818T=CA1908760478ERCC6c.2038A= (p.Asn680=)
n.2116A=
c.1879A= (p.Asn627=)
c.*430A= (n.*430A=)
c.148A= (p.Asn50=)
10g.49482819T>ACA376724407ERCC6c.2037A>T (p.Gln679His)
n.2115A>T
c.1878A>T (p.Gln626His)
c.*429A>T (n.*429A>T)
c.147A>T (p.Gln49His)
10g.49482819T>CCA5495781ERCC6c.2037A>G (p.Gln679=)
n.2115A>G
c.1878A>G (p.Gln626=)
c.*429A>G (n.*429A>G)
c.147A>G (p.Gln49=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482819T>GCA376724408ERCC6c.2037A>C (p.Gln679His)
n.2115A>C
c.1878A>C (p.Gln626His)
c.*429A>C (n.*429A>C)
c.147A>C (p.Gln49His)
10g.49482819T=CA1908760481ERCC6c.2037A= (p.Gln679=)
n.2115A=
c.1878A= (p.Gln626=)
c.*429A= (n.*429A=)
c.147A= (p.Gln49=)
10g.49482820T>ACA376724409ERCC6c.2036A>T (p.Gln679Leu)
n.2114A>T
c.1877A>T (p.Gln626Leu)
c.*428A>T (n.*428A>T)
c.146A>T (p.Gln49Leu)
10g.49482820T>CCA376724410ERCC6c.2036A>G (p.Gln679Arg)
n.2114A>G
c.1877A>G (p.Gln626Arg)
c.*428A>G (n.*428A>G)
c.146A>G (p.Gln49Arg)
10g.49482820T>GCA376724411ERCC6c.2036A>C (p.Gln679Pro)
n.2114A>C
c.1877A>C (p.Gln626Pro)
c.*428A>C (n.*428A>C)
c.146A>C (p.Gln49Pro)
 ClinVar
10g.49482821G>ACA376724412ERCC6c.2035C>T (p.Gln679Ter)
n.2113C>T
c.1876C>T (p.Gln626Ter)
c.*427C>T (n.*427C>T)
c.145C>T (p.Gln49Ter)
 ClinVar
10g.49482821G>CCA376724413ERCC6c.2035C>G (p.Gln679Glu)
n.2113C>G
c.1876C>G (p.Gln626Glu)
c.*427C>G (n.*427C>G)
c.145C>G (p.Gln49Glu)
10g.49482821G>TCA376724414ERCC6c.2035C>A (p.Gln679Lys)
n.2113C>A
c.1876C>A (p.Gln626Lys)
c.*427C>A (n.*427C>A)
c.145C>A (p.Gln49Lys)
10g.49482822C>ACA376724416ERCC6c.2034G>T (p.Met678Ile)
n.2112G>T
c.1875G>T (p.Met625Ile)
c.*426G>T (n.*426G>T)
c.144G>T (p.Met48Ile)
10g.49482822C>GCA376724417ERCC6c.2034G>C (p.Met678Ile)
n.2112G>C
c.1875G>C (p.Met625Ile)
c.*426G>C (n.*426G>C)
c.144G>C (p.Met48Ile)
10g.49482822C>TCA376724415ERCC6c.2034G>A (p.Met678Ile)
n.2112G>A
c.1875G>A (p.Met625Ile)
c.*426G>A (n.*426G>A)
c.144G>A (p.Met48Ile)
 gnomAD v4
10g.49482823A=CA1908760487ERCC6c.2033T= (p.Met678=)
n.2111T=
c.1874T= (p.Met625=)
c.*425T= (n.*425T=)
c.143T= (p.Met48=)
10g.49482823A>CCA376724418ERCC6c.2033T>G (p.Met678Arg)
n.2111T>G
c.1874T>G (p.Met625Arg)
c.*425T>G (n.*425T>G)
c.143T>G (p.Met48Arg)
10g.49482823A>GCA5495782ERCC6c.2033T>C (p.Met678Thr)
n.2111T>C
c.1874T>C (p.Met625Thr)
c.*425T>C (n.*425T>C)
c.143T>C (p.Met48Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482823A>TCA376724419ERCC6c.2033T>A (p.Met678Lys)
n.2111T>A
c.1874T>A (p.Met625Lys)
c.*425T>A (n.*425T>A)
c.143T>A (p.Met48Lys)
10g.49482824T>ACA376724420ERCC6c.2032A>T (p.Met678Leu)
n.2110A>T
c.1873A>T (p.Met625Leu)
c.*424A>T (n.*424A>T)
c.142A>T (p.Met48Leu)
10g.49482824T>CCA376724421ERCC6c.2032A>G (p.Met678Val)
n.2110A>G
c.1873A>G (p.Met625Val)
c.*424A>G (n.*424A>G)
c.142A>G (p.Met48Val)
10g.49482824T>GCA376724422ERCC6c.2032A>C (p.Met678Leu)
n.2110A>C
c.1873A>C (p.Met625Leu)
c.*424A>C (n.*424A>C)
c.142A>C (p.Met48Leu)
10g.49482825C>ACA469604052ERCC6c.2031G>T (p.Pro677=)
n.2109G>T
c.1872G>T (p.Pro624=)
c.*423G>T (n.*423G>T)
c.141G>T (p.Pro47=)
10g.49482825C=CA1908760493ERCC6c.2031G= (p.Pro677=)
n.2109G=
c.1872G= (p.Pro624=)
c.*423G= (n.*423G=)
c.141G= (p.Pro47=)
10g.49482825C>GCA469604054ERCC6c.2031G>C (p.Pro677=)
n.2109G>C
c.1872G>C (p.Pro624=)
c.*423G>C (n.*423G>C)
c.141G>C (p.Pro47=)
 ClinVar
10g.49482825C>TCA469604053ERCC6c.2031G>A (p.Pro677=)
n.2109G>A
c.1872G>A (p.Pro624=)
c.*423G>A (n.*423G>A)
c.141G>A (p.Pro47=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49482826G>ACA206595768ERCC6c.2030C>T (p.Pro677Leu)
n.2108C>T
c.1871C>T (p.Pro624Leu)
c.*422C>T (n.*422C>T)
c.140C>T (p.Pro47Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.49482826G>CCA376724423ERCC6c.2030C>G (p.Pro677Arg)
n.2108C>G
c.1871C>G (p.Pro624Arg)
c.*422C>G (n.*422C>G)
c.140C>G (p.Pro47Arg)
10g.49482826G=CA1908760499ERCC6c.2030C= (p.Pro677=)
n.2108C=
c.1871C= (p.Pro624=)
c.*422C= (n.*422C=)
c.140C= (p.Pro47=)
10g.49482826G>TCA376724424ERCC6c.2030C>A (p.Pro677Gln)
n.2108C>A
c.1871C>A (p.Pro624Gln)
c.*422C>A (n.*422C>A)
c.140C>A (p.Pro47Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49482827G>ACA376724425ERCC6c.2029C>T (p.Pro677Ser)
n.2107C>T
c.1870C>T (p.Pro624Ser)
c.*421C>T (n.*421C>T)
c.139C>T (p.Pro47Ser)
 ClinVar
10g.49482827G>CCA376724426ERCC6c.2029C>G (p.Pro677Ala)
n.2107C>G
c.1870C>G (p.Pro624Ala)
c.*421C>G (n.*421C>G)
c.139C>G (p.Pro47Ala)
10g.49482827G>TCA376724427ERCC6c.2029C>A (p.Pro677Thr)
n.2107C>A
c.1870C>A (p.Pro624Thr)
c.*421C>A (n.*421C>A)
c.139C>A (p.Pro47Thr)
10g.49482828T>ACA469604055ERCC6c.2028A>T (p.Ser676=)
n.2106A>T
c.1869A>T (p.Ser623=)
c.*420A>T (n.*420A>T)
c.138A>T (p.Ser46=)
10g.49482828T>CCA469604057ERCC6c.2028A>G (p.Ser676=)
n.2106A>G
c.1869A>G (p.Ser623=)
c.*420A>G (n.*420A>G)
c.138A>G (p.Ser46=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49482828T>GCA469604056ERCC6c.2028A>C (p.Ser676=)
n.2106A>C
c.1869A>C (p.Ser623=)
c.*420A>C (n.*420A>C)
c.138A>C (p.Ser46=)
10g.49482828T=CA1908760505ERCC6c.2028A= (p.Ser676=)
n.2106A=
c.1869A= (p.Ser623=)
c.*420A= (n.*420A=)
c.138A= (p.Ser46=)
10g.49482829G>ACA376724429ERCC6c.2027C>T (p.Ser676Leu)
n.2105C>T
c.1868C>T (p.Ser623Leu)
c.*419C>T (n.*419C>T)
c.137C>T (p.Ser46Leu)
10g.49482829G>CCA376724430ERCC6c.2027C>G (p.Ser676Ter)
n.2105C>G
c.1868C>G (p.Ser623Ter)
c.*419C>G (n.*419C>G)
c.137C>G (p.Ser46Ter)
10g.49482829G>TCA376724428ERCC6c.2027C>A (p.Ser676Ter)
n.2105C>A
c.1868C>A (p.Ser623Ter)
c.*419C>A (n.*419C>A)
c.137C>A (p.Ser46Ter)
10g.49482830A>CCA376724431ERCC6c.2026T>G (p.Ser676Ala)
n.2104T>G
c.1867T>G (p.Ser623Ala)
c.*418T>G (n.*418T>G)
c.136T>G (p.Ser46Ala)
10g.49482830A>GCA376724432ERCC6c.2026T>C (p.Ser676Pro)
n.2104T>C
c.1867T>C (p.Ser623Pro)
c.*418T>C (n.*418T>C)
c.136T>C (p.Ser46Pro)
10g.49482830A>TCA376724433ERCC6c.2026T>A (p.Ser676Thr)
n.2104T>A
c.1867T>A (p.Ser623Thr)
c.*418T>A (n.*418T>A)
c.136T>A (p.Ser46Thr)
10g.49482831G>ACA469604058ERCC6c.2025C>T (p.Gly675=)
n.2103C>T
c.1866C>T (p.Gly622=)
c.*417C>T (n.*417C>T)
c.135C>T (p.Gly45=)
10g.49482831G>CCA469604059ERCC6c.2025C>G (p.Gly675=)
n.2103C>G
c.1866C>G (p.Gly622=)
c.*417C>G (n.*417C>G)
c.135C>G (p.Gly45=)
10g.49482831G>TCA469604060ERCC6c.2025C>A (p.Gly675=)
n.2103C>A
c.1866C>A (p.Gly622=)
c.*417C>A (n.*417C>A)
c.135C>A (p.Gly45=)
10g.49482832C>ACA376724434ERCC6c.2024G>T (p.Gly675Val)
n.2102G>T
c.1865G>T (p.Gly622Val)
c.*416G>T (n.*416G>T)
c.134G>T (p.Gly45Val)
10g.49482832C>GCA376724435ERCC6c.2024G>C (p.Gly675Ala)
n.2102G>C
c.1865G>C (p.Gly622Ala)
c.*416G>C (n.*416G>C)
c.134G>C (p.Gly45Ala)
10g.49482832C>TCA376724436ERCC6c.2024G>A (p.Gly675Asp)
n.2102G>A
c.1865G>A (p.Gly622Asp)
c.*416G>A (n.*416G>A)
c.134G>A (p.Gly45Asp)
10g.49482833C>ACA376724437ERCC6c.2023G>T (p.Gly675Cys)
n.2101G>T
c.1864G>T (p.Gly622Cys)
c.*415G>T (n.*415G>T)
c.133G>T (p.Gly45Cys)
10g.49482833C=CA1908760508ERCC6c.2023G= (p.Gly675=)
n.2101G=
c.1864G= (p.Gly622=)
c.*415G= (n.*415G=)
c.133G= (p.Gly45=)
10g.49482833C>GCA376724439ERCC6c.2023G>C (p.Gly675Arg)
n.2101G>C
c.1864G>C (p.Gly622Arg)
c.*415G>C (n.*415G>C)
c.133G>C (p.Gly45Arg)
10g.49482833C>TCA376724438ERCC6c.2023G>A (p.Gly675Ser)
n.2101G>A
c.1864G>A (p.Gly622Ser)
c.*415G>A (n.*415G>A)
c.133G>A (p.Gly45Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.49482834A=CA1908760512ERCC6c.2022T= (p.Ser674=)
n.2100T=
c.1863T= (p.Ser621=)
c.*414T= (n.*414T=)
c.132T= (p.Ser44=)
10g.49482834A>CCA469604062ERCC6c.2022T>G (p.Ser674=)
n.2100T>G
c.1863T>G (p.Ser621=)
c.*414T>G (n.*414T>G)
c.132T>G (p.Ser44=)
10g.49482834A>GCA469604061ERCC6c.2022T>C (p.Ser674=)
n.2100T>C
c.1863T>C (p.Ser621=)
c.*414T>C (n.*414T>C)
c.132T>C (p.Ser44=)
10g.49482834A>TCA5495783ERCC6c.2022T>A (p.Ser674=)
n.2100T>A
c.1863T>A (p.Ser621=)
c.*414T>A (n.*414T>A)
c.132T>A (p.Ser44=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482835G>ACA376724440ERCC6c.2021C>T (p.Ser674Phe)
n.2099C>T
c.1862C>T (p.Ser621Phe)
c.*413C>T (n.*413C>T)
c.131C>T (p.Ser44Phe)
10g.49482835G>CCA376724441ERCC6c.2021C>G (p.Ser674Cys)
n.2099C>G
c.1862C>G (p.Ser621Cys)
c.*413C>G (n.*413C>G)
c.131C>G (p.Ser44Cys)
10g.49482835G>TCA376724442ERCC6c.2021C>A (p.Ser674Tyr)
n.2099C>A
c.1862C>A (p.Ser621Tyr)
c.*413C>A (n.*413C>A)
c.131C>A (p.Ser44Tyr)
10g.49482836A>CCA376724443ERCC6c.2020T>G (p.Ser674Ala)
n.2098T>G
c.1861T>G (p.Ser621Ala)
c.*412T>G (n.*412T>G)
c.130T>G (p.Ser44Ala)
10g.49482836A>GCA376724445ERCC6c.2020T>C (p.Ser674Pro)
n.2098T>C
c.1861T>C (p.Ser621Pro)
c.*412T>C (n.*412T>C)
c.130T>C (p.Ser44Pro)
10g.49482836A>TCA376724444ERCC6c.2020T>A (p.Ser674Thr)
n.2098T>A
c.1861T>A (p.Ser621Thr)
c.*412T>A (n.*412T>A)
c.130T>A (p.Ser44Thr)
10g.49482837C>ACA469604063ERCC6c.2019G>T (p.Leu673=)
n.2097G>T
c.1860G>T (p.Leu620=)
c.*411G>T (n.*411G>T)
c.129G>T (p.Leu43=)
 ClinVar dbSNP gnomAD v4 COSMIC
10g.49482837C=CA1908760520ERCC6c.2019G= (p.Leu673=)
n.2097G=
c.1860G= (p.Leu620=)
c.*411G= (n.*411G=)
c.129G= (p.Leu43=)
10g.49482837C>GCA469604064ERCC6c.2019G>C (p.Leu673=)
n.2097G>C
c.1860G>C (p.Leu620=)
c.*411G>C (n.*411G>C)
c.129G>C (p.Leu43=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49482837C>TCA5495784ERCC6c.2019G>A (p.Leu673=)
n.2097G>A
c.1860G>A (p.Leu620=)
c.*411G>A (n.*411G>A)
c.129G>A (p.Leu43=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.49482838A>CCA376724448ERCC6c.2018T>G (p.Leu673Arg)
n.2096T>G
c.1859T>G (p.Leu620Arg)
c.*410T>G (n.*410T>G)
c.128T>G (p.Leu43Arg)
10g.49482838A>GCA376724446ERCC6c.2018T>C (p.Leu673Pro)
n.2096T>C
c.1859T>C (p.Leu620Pro)
c.*410T>C (n.*410T>C)
c.128T>C (p.Leu43Pro)
10g.49482838A>TCA376724447ERCC6c.2018T>A (p.Leu673Gln)
n.2096T>A
c.1859T>A (p.Leu620Gln)
c.*410T>A (n.*410T>A)
c.128T>A (p.Leu43Gln)
10g.49482839G>ACA469604065ERCC6c.2017C>T (p.Leu673=)
n.2095C>T
c.1858C>T (p.Leu620=)
c.*409C>T (n.*409C>T)
c.127C>T (p.Leu43=)
 gnomAD v4
10g.49482839G>CCA376724449ERCC6c.2017C>G (p.Leu673Val)
n.2095C>G
c.1858C>G (p.Leu620Val)
c.*409C>G (n.*409C>G)
c.127C>G (p.Leu43Val)
10g.49482839G>TCA376724450ERCC6c.2017C>A (p.Leu673Met)
n.2095C>A
c.1858C>A (p.Leu620Met)
c.*409C>A (n.*409C>A)
c.127C>A (p.Leu43Met)
10g.49482840A>CCA376724451ERCC6c.2016T>G (p.Ile672Met)
n.2094T>G
c.1857T>G (p.Ile619Met)
c.*408T>G (n.*408T>G)
c.126T>G (p.Ile42Met)
10g.49482840A>GCA469604066ERCC6c.2016T>C (p.Ile672=)
n.2094T>C
c.1857T>C (p.Ile619=)
c.*408T>C (n.*408T>C)
c.126T>C (p.Ile42=)
 ClinVar
10g.49482840A>TCA469604067ERCC6c.2016T>A (p.Ile672=)
n.2094T>A
c.1857T>A (p.Ile619=)
c.*408T>A (n.*408T>A)
c.126T>A (p.Ile42=)
10g.49482841A>CCA376724452ERCC6c.2015T>G (p.Ile672Ser)
n.2093T>G
c.1856T>G (p.Ile619Ser)
c.*407T>G (n.*407T>G)
c.125T>G (p.Ile42Ser)
10g.49482841A>GCA376724453ERCC6c.2015T>C (p.Ile672Thr)
n.2093T>C
c.1856T>C (p.Ile619Thr)
c.*407T>C (n.*407T>C)
c.125T>C (p.Ile42Thr)
 gnomAD v4
10g.49482841A>TCA376724454ERCC6c.2015T>A (p.Ile672Asn)
n.2093T>A
c.1856T>A (p.Ile619Asn)
c.*407T>A (n.*407T>A)
c.125T>A (p.Ile42Asn)
10g.49482842T>ACA376724455ERCC6c.2014A>T (p.Ile672Phe)
n.2092A>T
c.1855A>T (p.Ile619Phe)
c.*406A>T (n.*406A>T)
c.124A>T (p.Ile42Phe)
10g.49482842T>CCA376724456ERCC6c.2014A>G (p.Ile672Val)
n.2092A>G
c.1855A>G (p.Ile619Val)
c.*406A>G (n.*406A>G)
c.124A>G (p.Ile42Val)
 gnomAD v4
10g.49482842T>GCA376724457ERCC6c.2014A>C (p.Ile672Leu)
n.2092A>C
c.1855A>C (p.Ile619Leu)
c.*406A>C (n.*406A>C)
c.124A>C (p.Ile42Leu)
10g.49482843G>ACA5495785ERCC6c.2013C>T (p.Ile671=)
n.2091C>T
c.1854C>T (p.Ile618=)
c.*405C>T (n.*405C>T)
c.123C>T (p.Ile41=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49482843G>CCA376724458ERCC6c.2013C>G (p.Ile671Met)
n.2091C>G
c.1854C>G (p.Ile618Met)
c.*405C>G (n.*405C>G)
c.123C>G (p.Ile41Met)
10g.49482843G=CA1908760533ERCC6c.2013C= (p.Ile671=)
n.2091C=
c.1854C= (p.Ile618=)
c.*405C= (n.*405C=)
c.123C= (p.Ile41=)
10g.49482843G>TCA469604068ERCC6c.2013C>A (p.Ile671=)
n.2091C>A
c.1854C>A (p.Ile618=)
c.*405C>A (n.*405C>A)
c.123C>A (p.Ile41=)
 gnomAD v4
10g.49482844A>CCA376724459ERCC6c.2012T>G (p.Ile671Ser)
n.2090T>G
c.1853T>G (p.Ile618Ser)
c.*404T>G (n.*404T>G)
c.122T>G (p.Ile41Ser)
10g.49482844A>GCA376724461ERCC6c.2012T>C (p.Ile671Thr)
n.2090T>C
c.1853T>C (p.Ile618Thr)
c.*404T>C (n.*404T>C)
c.122T>C (p.Ile41Thr)
10g.49482844A>TCA376724460ERCC6c.2012T>A (p.Ile671Asn)
n.2090T>A
c.1853T>A (p.Ile618Asn)
c.*404T>A (n.*404T>A)
c.122T>A (p.Ile41Asn)
 gnomAD v4
10g.49482845T>ACA376724462ERCC6c.2011A>T (p.Ile671Phe)
n.2089A>T
c.1852A>T (p.Ile618Phe)
c.*403A>T (n.*403A>T)
c.121A>T (p.Ile41Phe)
10g.49482845T>CCA5495786ERCC6c.2011A>G (p.Ile671Val)
n.2089A>G
c.1852A>G (p.Ile618Val)
c.*403A>G (n.*403A>G)
c.121A>G (p.Ile41Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482845T>GCA376724463ERCC6c.2011A>C (p.Ile671Leu)
n.2089A>C
c.1852A>C (p.Ile618Leu)
c.*403A>C (n.*403A>C)
c.121A>C (p.Ile41Leu)
10g.49482845T=CA1908760542ERCC6c.2011A= (p.Ile671=)
n.2089A=
c.1852A= (p.Ile618=)
c.*403A= (n.*403A=)
c.121A= (p.Ile41=)
10g.49482846C>ACA206595788ERCC6c.2010G>T (p.Arg670=)
n.2088G>T
c.1851G>T (p.Arg617=)
c.*402G>T (n.*402G>T)
c.120G>T (p.Arg40=)
 ClinVar dbSNP gnomAD v4
10g.49482846C=CA1908760546ERCC6c.2010G= (p.Arg670=)
n.2088G=
c.1851G= (p.Arg617=)
c.*402G= (n.*402G=)
c.120G= (p.Arg40=)
10g.49482846C>GCA469604069ERCC6c.2010G>C (p.Arg670=)
n.2088G>C
c.1851G>C (p.Arg617=)
c.*402G>C (n.*402G>C)
c.120G>C (p.Arg40=)
10g.49482846C>TCA469604070ERCC6c.2010G>A (p.Arg670=)
n.2088G>A
c.1851G>A (p.Arg617=)
c.*402G>A (n.*402G>A)
c.120G>A (p.Arg40=)
10g.49482847C>ACA206595798ERCC6c.2009G>T (p.Arg670Leu)
n.2087G>T
c.1850G>T (p.Arg617Leu)
c.*401G>T (n.*401G>T)
c.119G>T (p.Arg40Leu)
 dbSNP
10g.49482847C=CA1908760554ERCC6c.2009G= (p.Arg670=)
n.2087G=
c.1850G= (p.Arg617=)
c.*401G= (n.*401G=)
c.119G= (p.Arg40=)
10g.49482847C>GCA376724464ERCC6c.2009G>C (p.Arg670Pro)
n.2087G>C
c.1850G>C (p.Arg617Pro)
c.*401G>C (n.*401G>C)
c.119G>C (p.Arg40Pro)
10g.49482847C>TCA376724465ERCC6c.2009G>A (p.Arg670Gln)
n.2087G>A
c.1850G>A (p.Arg617Gln)
c.*401G>A (n.*401G>A)
c.119G>A (p.Arg40Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49482848G>ACA274698ERCC6c.2008C>T (p.Arg670Trp)
n.2086C>T
c.1849C>T (p.Arg617Trp)
c.*400C>T (n.*400C>T)
c.118C>T (p.Arg40Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.49482848G>CCA376724466ERCC6c.2008C>G (p.Arg670Gly)
n.2086C>G
c.1849C>G (p.Arg617Gly)
c.*400C>G (n.*400C>G)
c.118C>G (p.Arg40Gly)
 COSMIC
10g.49482848G=CA1908760559ERCC6c.2008C= (p.Arg670=)
n.2086C=
c.1849C= (p.Arg617=)
c.*400C= (n.*400C=)
c.118C= (p.Arg40=)
10g.49482848G>TCA469604071ERCC6c.2008C>A (p.Arg670=)
n.2086C>A
c.1849C>A (p.Arg617=)
c.*400C>A (n.*400C>A)
c.118C>A (p.Arg40=)
10g.49482849A=CA1908760564ERCC6c.2007T= (p.His669=)
n.2085T=
c.1848T= (p.His616=)
c.*399T= (n.*399T=)
c.117T= (p.His39=)
10g.49482849A>CCA376724467ERCC6c.2007T>G (p.His669Gln)
n.2085T>G
c.1848T>G (p.His616Gln)
c.*399T>G (n.*399T>G)
c.117T>G (p.His39Gln)
10g.49482849A>GCA469604072ERCC6c.2007T>C (p.His669=)
n.2085T>C
c.1848T>C (p.His616=)
c.*399T>C (n.*399T>C)
c.117T>C (p.His39=)
 dbSNP
10g.49482849A>TCA376724468ERCC6c.2007T>A (p.His669Gln)
n.2085T>A
c.1848T>A (p.His616Gln)
c.*399T>A (n.*399T>A)
c.117T>A (p.His39Gln)
10g.49482850T>ACA376724470ERCC6c.2006A>T (p.His669Leu)
n.2084A>T
c.1847A>T (p.His616Leu)
c.*398A>T (n.*398A>T)
c.116A>T (p.His39Leu)
10g.49482850T>CCA5495787ERCC6c.2006A>G (p.His669Arg)
n.2084A>G
c.1847A>G (p.His616Arg)
c.*398A>G (n.*398A>G)
c.116A>G (p.His39Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482850T>GCA376724469ERCC6c.2006A>C (p.His669Pro)
n.2084A>C
c.1847A>C (p.His616Pro)
c.*398A>C (n.*398A>C)
c.116A>C (p.His39Pro)
10g.49482850T=CA1908760572ERCC6c.2006A= (p.His669=)
n.2084A=
c.1847A= (p.His616=)
c.*398A= (n.*398A=)
c.116A= (p.His39=)
10g.49482851G>ACA376724473ERCC6c.2005C>T (p.His669Tyr)
n.2083C>T
c.1846C>T (p.His616Tyr)
c.*397C>T (n.*397C>T)
c.115C>T (p.His39Tyr)
10g.49482851G>CCA376724471ERCC6c.2005C>G (p.His669Asp)
n.2083C>G
c.1846C>G (p.His616Asp)
c.*397C>G (n.*397C>G)
c.115C>G (p.His39Asp)
10g.49482851G>TCA376724472ERCC6c.2005C>A (p.His669Asn)
n.2083C>A
c.1846C>A (p.His616Asn)
c.*397C>A (n.*397C>A)
c.115C>A (p.His39Asn)
10g.49482852A>CCA469604073ERCC6c.2004T>G (p.Pro668=)
n.2082T>G
c.1845T>G (p.Pro615=)
c.*396T>G (n.*396T>G)
c.114T>G (p.Pro38=)
 gnomAD v4
10g.49482852A>GCA469604075ERCC6c.2004T>C (p.Pro668=)
n.2082T>C
c.1845T>C (p.Pro615=)
c.*396T>C (n.*396T>C)
c.114T>C (p.Pro38=)
10g.49482852A>TCA469604074ERCC6c.2004T>A (p.Pro668=)
n.2082T>A
c.1845T>A (p.Pro615=)
c.*396T>A (n.*396T>A)
c.114T>A (p.Pro38=)
10g.49482853G>ACA376724474ERCC6c.2003C>T (p.Pro668Leu)
n.2081C>T
c.1844C>T (p.Pro615Leu)
c.*395C>T (n.*395C>T)
c.113C>T (p.Pro38Leu)
10g.49482853G>CCA376724475ERCC6c.2003C>G (p.Pro668Arg)
n.2081C>G
c.1844C>G (p.Pro615Arg)
c.*395C>G (n.*395C>G)
c.113C>G (p.Pro38Arg)
10g.49482853G>TCA376724476ERCC6c.2003C>A (p.Pro668His)
n.2081C>A
c.1844C>A (p.Pro615His)
c.*395C>A (n.*395C>A)
c.113C>A (p.Pro38His)
10g.49482854G>ACA376724477ERCC6c.2002C>T (p.Pro668Ser)
n.2080C>T
c.1843C>T (p.Pro615Ser)
c.*394C>T (n.*394C>T)
c.112C>T (p.Pro38Ser)
 gnomAD v4
10g.49482854G>CCA376724478ERCC6c.2002C>G (p.Pro668Ala)
n.2080C>G
c.1843C>G (p.Pro615Ala)
c.*394C>G (n.*394C>G)
c.112C>G (p.Pro38Ala)
10g.49482854G>TCA376724479ERCC6c.2002C>A (p.Pro668Thr)
n.2080C>A
c.1843C>A (p.Pro615Thr)
c.*394C>A (n.*394C>A)
c.112C>A (p.Pro38Thr)
10g.49482855G>ACA5495788ERCC6c.2001C>T (p.Thr667=)
n.2079C>T
c.1842C>T (p.Thr614=)
c.*393C>T (n.*393C>T)
c.111C>T (p.Thr37=)
 dbSNP ExAC gnomAD v2 COSMIC
10g.49482855G>CCA469604077ERCC6c.2001C>G (p.Thr667=)
n.2079C>G
c.1842C>G (p.Thr614=)
c.*393C>G (n.*393C>G)
c.111C>G (p.Thr37=)
10g.49482855G=CA1908760579ERCC6c.2001C= (p.Thr667=)
n.2079C=
c.1842C= (p.Thr614=)
c.*393C= (n.*393C=)
c.111C= (p.Thr37=)
10g.49482855G>TCA469604076ERCC6c.2001C>A (p.Thr667=)
n.2079C>A
c.1842C>A (p.Thr614=)
c.*393C>A (n.*393C>A)
c.111C>A (p.Thr37=)
10g.49482856G>ACA376724480ERCC6c.2000C>T (p.Thr667Ile)
n.2078C>T
c.1841C>T (p.Thr614Ile)
c.*392C>T (n.*392C>T)
c.110C>T (p.Thr37Ile)
 gnomAD v4
10g.49482856G>CCA376724481ERCC6c.2000C>G (p.Thr667Ser)
n.2078C>G
c.1841C>G (p.Thr614Ser)
c.*392C>G (n.*392C>G)
c.110C>G (p.Thr37Ser)
 dbSNP
10g.49482856G=CA1908760584ERCC6c.2000C= (p.Thr667=)
n.2078C=
c.1841C= (p.Thr614=)
c.*392C= (n.*392C=)
c.110C= (p.Thr37=)
10g.49482856G>TCA376724482ERCC6c.2000C>A (p.Thr667Asn)
n.2078C>A
c.1841C>A (p.Thr614Asn)
c.*392C>A (n.*392C>A)
c.110C>A (p.Thr37Asn)
10g.49482856_49482857delinsGTCA1908760583ERCC6c.1999_2000delinsAC (p.Thr667=)
n.2077_2078delinsAC
c.1840_1841delinsAC (p.Thr614=)
c.*391_*392delinsAC (n.*391_*392delinsAC)
c.109_110delinsAC (p.Thr37=)
10g.49482857delCA274697ERCC6c.1999del (p.Thr667ProfsTer?)
n.2077del
c.1840del (p.Thr614ProfsTer?)
c.*391del (n.*391del)
c.109del (p.Thr37ProfsTer?)
 ClinVar dbSNP
10g.49482857T>ACA376724485ERCC6c.1999A>T (p.Thr667Ser)
n.2077A>T
c.1840A>T (p.Thr614Ser)
c.*391A>T (n.*391A>T)
c.109A>T (p.Thr37Ser)
10g.49482857T>CCA376724484ERCC6c.1999A>G (p.Thr667Ala)
n.2077A>G
c.1840A>G (p.Thr614Ala)
c.*391A>G (n.*391A>G)
c.109A>G (p.Thr37Ala)
10g.49482857T>GCA376724483ERCC6c.1999A>C (p.Thr667Pro)
n.2077A>C
c.1840A>C (p.Thr614Pro)
c.*391A>C (n.*391A>C)
c.109A>C (p.Thr37Pro)
10g.49482858G>ACA5495789ERCC6c.1998C>T (p.Arg666=)
n.2076C>T
c.1839C>T (p.Arg613=)
c.*390C>T (n.*390C>T)
c.108C>T (p.Arg36=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482858G>CCA469604079ERCC6c.1998C>G (p.Arg666=)
n.2076C>G
c.1839C>G (p.Arg613=)
c.*390C>G (n.*390C>G)
c.108C>G (p.Arg36=)
10g.49482858G=CA1908760600ERCC6c.1998C= (p.Arg666=)
n.2076C=
c.1839C= (p.Arg613=)
c.*390C= (n.*390C=)
c.108C= (p.Arg36=)
10g.49482858G>TCA469604078ERCC6c.1998C>A (p.Arg666=)
n.2076C>A
c.1839C>A (p.Arg613=)
c.*390C>A (n.*390C>A)
c.108C>A (p.Arg36=)
10g.49482859C>ACA376724486ERCC6c.1997G>T (p.Arg666Leu)
n.2075G>T
c.1838G>T (p.Arg613Leu)
c.*389G>T (n.*389G>T)
c.107G>T (p.Arg36Leu)
 dbSNP gnomAD v3 gnomAD v4
10g.49482859C=CA1908760609ERCC6c.1997G= (p.Arg666=)
n.2075G=
c.1838G= (p.Arg613=)
c.*389G= (n.*389G=)
c.107G= (p.Arg36=)
10g.49482859C>GCA376724487ERCC6c.1997G>C (p.Arg666Pro)
n.2075G>C
c.1838G>C (p.Arg613Pro)
c.*389G>C (n.*389G>C)
c.107G>C (p.Arg36Pro)
10g.49482859C>TCA5495790ERCC6c.1997G>A (p.Arg666His)
n.2075G>A
c.1838G>A (p.Arg613His)
c.*389G>A (n.*389G>A)
c.107G>A (p.Arg36His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49482860G>ACA199585ERCC6c.1996C>T (p.Arg666Cys)
n.2074C>T
c.1837C>T (p.Arg613Cys)
c.*388C>T (n.*388C>T)
c.106C>T (p.Arg36Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49482860G>CCA376724491ERCC6c.1996C>G (p.Arg666Gly)
n.2074C>G
c.1837C>G (p.Arg613Gly)
c.*388C>G (n.*388C>G)
c.106C>G (p.Arg36Gly)
10g.49482860G=CA1908760621ERCC6c.1996C= (p.Arg666=)
n.2074C=
c.1837C= (p.Arg613=)
c.*388C= (n.*388C=)
c.106C= (p.Arg36=)
10g.49482860G>TCA376724492ERCC6c.1996C>A (p.Arg666Ser)
n.2074C>A
c.1837C>A (p.Arg613Ser)
c.*388C>A (n.*388C>A)
c.106C>A (p.Arg36Ser)
10g.49482861A>CCA376724495ERCC6c.1995T>G (p.Phe665Leu)
n.2073T>G
c.1836T>G (p.Phe612Leu)
c.*387T>G (n.*387T>G)
c.105T>G (p.Phe35Leu)
10g.49482861A>GCA469604080ERCC6c.1995T>C (p.Phe665=)
n.2073T>C
c.1836T>C (p.Phe612=)
c.*387T>C (n.*387T>C)
c.105T>C (p.Phe35=)
10g.49482861A>TCA376724499ERCC6c.1995T>A (p.Phe665Leu)
n.2073T>A
c.1836T>A (p.Phe612Leu)
c.*387T>A (n.*387T>A)
c.105T>A (p.Phe35Leu)
10g.49482862A>CCA376724501ERCC6c.1994T>G (p.Phe665Cys)
n.2072T>G
c.1835T>G (p.Phe612Cys)
c.*386T>G (n.*386T>G)
c.104T>G (p.Phe35Cys)
10g.49482862A>GCA376724503ERCC6c.1994T>C (p.Phe665Ser)
n.2072T>C
c.1835T>C (p.Phe612Ser)
c.*386T>C (n.*386T>C)
c.104T>C (p.Phe35Ser)
10g.49482862A>TCA376724505ERCC6c.1994T>A (p.Phe665Tyr)
n.2072T>A
c.1835T>A (p.Phe612Tyr)
c.*386T>A (n.*386T>A)
c.104T>A (p.Phe35Tyr)
10g.49482863A=CA1908760631ERCC6c.1993T= (p.Phe665=)
n.2071T=
c.1834T= (p.Phe612=)
c.*385T= (n.*385T=)
c.103T= (p.Phe35=)
10g.49482863A>CCA376724508ERCC6c.1993T>G (p.Phe665Val)
n.2071T>G
c.1834T>G (p.Phe612Val)
c.*385T>G (n.*385T>G)
c.103T>G (p.Phe35Val)
10g.49482863A>GCA5495791ERCC6c.1993T>C (p.Phe665Leu)
n.2071T>C
c.1834T>C (p.Phe612Leu)
c.*385T>C (n.*385T>C)
c.103T>C (p.Phe35Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49482863A>TCA376724507ERCC6c.1993T>A (p.Phe665Ile)
n.2071T>A
c.1834T>A (p.Phe612Ile)
c.*385T>A (n.*385T>A)
c.103T>A (p.Phe35Ile)
10g.49482864C>ACA376724511ERCC6c.1993-1G>T (n.1993-1G>T)
n.2071-1G>T
c.1834-1G>T (n.1834-1G>T)
c.*385-1G>T (n.*385-1G>T)
c.103-1G>T (n.103-1G>T)
10g.49482864C>GCA376724516ERCC6c.1993-1G>C (n.1993-1G>C)
n.2071-1G>C
c.1834-1G>C (n.1834-1G>C)
c.*385-1G>C (n.*385-1G>C)
c.103-1G>C (n.103-1G>C)
10g.49482864C>TCA376724513ERCC6c.1993-1G>A (n.1993-1G>A)
n.2071-1G>A
c.1834-1G>A (n.1834-1G>A)
c.*385-1G>A (n.*385-1G>A)
c.103-1G>A (n.103-1G>A)
10g.49482865T>ACA376724518ERCC6c.1993-2A>T (n.1993-2A>T)
n.2071-2A>T
c.1834-2A>T (n.1834-2A>T)
c.*385-2A>T (n.*385-2A>T)
c.103-2A>T (n.103-2A>T)
10g.49482865T>CCA376724520ERCC6c.1993-2A>G (n.1993-2A>G)
n.2071-2A>G
c.1834-2A>G (n.1834-2A>G)
c.*385-2A>G (n.*385-2A>G)
c.103-2A>G (n.103-2A>G)
10g.49482865T>GCA376724521ERCC6c.1993-2A>C (n.1993-2A>C)
n.2071-2A>C
c.1834-2A>C (n.1834-2A>C)
c.*385-2A>C (n.*385-2A>C)
c.103-2A>C (n.103-2A>C)

Number of alleles fetched