Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49482767A>C | CA376724294 | ERCC6 | c.2089T>G (p.Leu697Val) n.2167T>G c.1930T>G (p.Leu644Val) c.*481T>G (n.*481T>G) c.199T>G (p.Leu67Val) | |
10 | g.49482767A>G | CA469604024 | ERCC6 | c.2089T>C (p.Leu697=) n.2167T>C c.1930T>C (p.Leu644=) c.*481T>C (n.*481T>C) c.199T>C (p.Leu67=) | COSMIC |
10 | g.49482767A>T | CA376724295 | ERCC6 | c.2089T>A (p.Leu697Ile) n.2167T>A c.1930T>A (p.Leu644Ile) c.*481T>A (n.*481T>A) c.199T>A (p.Leu67Ile) | |
10 | g.49482768C>A | CA376724296 | ERCC6 | c.2088G>T (p.Lys696Asn) n.2166G>T c.1929G>T (p.Lys643Asn) c.*480G>T (n.*480G>T) c.198G>T (p.Lys66Asn) | |
10 | g.49482768C>G | CA376724297 | ERCC6 | c.2088G>C (p.Lys696Asn) n.2166G>C c.1929G>C (p.Lys643Asn) c.*480G>C (n.*480G>C) c.198G>C (p.Lys66Asn) | |
10 | g.49482768C>T | CA469604025 | ERCC6 | c.2088G>A (p.Lys696=) n.2166G>A c.1929G>A (p.Lys643=) c.*480G>A (n.*480G>A) c.198G>A (p.Lys66=) | |
10 | g.49482769T>A | CA376724298 | ERCC6 | c.2087A>T (p.Lys696Met) n.2165A>T c.1928A>T (p.Lys643Met) c.*479A>T (n.*479A>T) c.197A>T (p.Lys66Met) | |
10 | g.49482769T>C | CA376724299 | ERCC6 | c.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 |
10 | g.49482769T>G | CA376724300 | ERCC6 | c.2087A>C (p.Lys696Thr) n.2165A>C c.1928A>C (p.Lys643Thr) c.*479A>C (n.*479A>C) c.197A>C (p.Lys66Thr) | |
10 | g.49482769T= | CA1908760321 | ERCC6 | c.2087A= (p.Lys696=) n.2165A= c.1928A= (p.Lys643=) c.*479A= (n.*479A=) c.197A= (p.Lys66=) | |
10 | g.49482770T>A | CA376724301 | ERCC6 | c.2086A>T (p.Lys696Ter) n.2164A>T c.1927A>T (p.Lys643Ter) c.*478A>T (n.*478A>T) c.196A>T (p.Lys66Ter) | |
10 | g.49482770T>C | CA376724302 | ERCC6 | c.2086A>G (p.Lys696Glu) n.2164A>G c.1927A>G (p.Lys643Glu) c.*478A>G (n.*478A>G) c.196A>G (p.Lys66Glu) | |
10 | g.49482770T>G | CA376724303 | ERCC6 | c.2086A>C (p.Lys696Gln) n.2164A>C c.1927A>C (p.Lys643Gln) c.*478A>C (n.*478A>C) c.196A>C (p.Lys66Gln) | |
10 | g.49482771T>A | CA469604026 | ERCC6 | c.2085A>T (p.Gly695=) n.2163A>T c.1926A>T (p.Gly642=) c.*477A>T (n.*477A>T) c.195A>T (p.Gly65=) | |
10 | g.49482771T>C | CA206595743 | ERCC6 | c.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 |
10 | g.49482771T>G | CA469604027 | ERCC6 | c.2085A>C (p.Gly695=) n.2163A>C c.1926A>C (p.Gly642=) c.*477A>C (n.*477A>C) c.195A>C (p.Gly65=) | |
10 | g.49482771T= | CA1908760328 | ERCC6 | c.2085A= (p.Gly695=) n.2163A= c.1926A= (p.Gly642=) c.*477A= (n.*477A=) c.195A= (p.Gly65=) | |
10 | g.49482772C>A | CA376724304 | ERCC6 | c.2084G>T (p.Gly695Val) n.2162G>T c.1925G>T (p.Gly642Val) c.*476G>T (n.*476G>T) c.194G>T (p.Gly65Val) | COSMIC |
10 | g.49482772C>G | CA376724305 | ERCC6 | c.2084G>C (p.Gly695Ala) n.2162G>C c.1925G>C (p.Gly642Ala) c.*476G>C (n.*476G>C) c.194G>C (p.Gly65Ala) | |
10 | g.49482772C>T | CA376724306 | ERCC6 | c.2084G>A (p.Gly695Glu) n.2162G>A c.1925G>A (p.Gly642Glu) c.*476G>A (n.*476G>A) c.194G>A (p.Gly65Glu) | |
10 | g.49482773C>A | CA376724307 | ERCC6 | c.2083G>T (p.Gly695Ter) n.2161G>T c.1924G>T (p.Gly642Ter) c.*475G>T (n.*475G>T) c.193G>T (p.Gly65Ter) | |
10 | g.49482773C>G | CA376724308 | ERCC6 | c.2083G>C (p.Gly695Arg) n.2161G>C c.1924G>C (p.Gly642Arg) c.*475G>C (n.*475G>C) c.193G>C (p.Gly65Arg) | |
10 | g.49482773C>T | CA376724309 | ERCC6 | c.2083G>A (p.Gly695Arg) n.2161G>A c.1924G>A (p.Gly642Arg) c.*475G>A (n.*475G>A) c.193G>A (p.Gly65Arg) | |
10 | g.49482774C>A | CA469604029 | ERCC6 | c.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 |
10 | g.49482774C= | CA1908760335 | ERCC6 | c.2082G= (p.Pro694=) n.2160G= c.1923G= (p.Pro641=) c.*474G= (n.*474G=) c.192G= (p.Pro64=) | |
10 | g.49482774C>G | CA469604028 | ERCC6 | c.2082G>C (p.Pro694=) n.2160G>C c.1923G>C (p.Pro641=) c.*474G>C (n.*474G>C) c.192G>C (p.Pro64=) | |
10 | g.49482774C>T | CA5495771 | ERCC6 | c.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 |
10 | g.49482775G>A | CA5495772 | ERCC6 | c.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 |
10 | g.49482775G>C | CA376724310 | ERCC6 | c.2081C>G (p.Pro694Arg) n.2159C>G c.1922C>G (p.Pro641Arg) c.*473C>G (n.*473C>G) c.191C>G (p.Pro64Arg) | |
10 | g.49482775G= | CA1908760341 | ERCC6 | c.2081C= (p.Pro694=) n.2159C= c.1922C= (p.Pro641=) c.*473C= (n.*473C=) c.191C= (p.Pro64=) | |
10 | g.49482775G>T | CA376724311 | ERCC6 | c.2081C>A (p.Pro694Gln) n.2159C>A c.1922C>A (p.Pro641Gln) c.*473C>A (n.*473C>A) c.191C>A (p.Pro64Gln) | |
10 | g.49482776G>A | CA376724312 | ERCC6 | c.2080C>T (p.Pro694Ser) n.2158C>T c.1921C>T (p.Pro641Ser) c.*472C>T (n.*472C>T) c.190C>T (p.Pro64Ser) | ClinVar |
10 | g.49482776G>C | CA376724313 | ERCC6 | c.2080C>G (p.Pro694Ala) n.2158C>G c.1921C>G (p.Pro641Ala) c.*472C>G (n.*472C>G) c.190C>G (p.Pro64Ala) | |
10 | g.49482776G>T | CA376724314 | ERCC6 | c.2080C>A (p.Pro694Thr) n.2158C>A c.1921C>A (p.Pro641Thr) c.*472C>A (n.*472C>A) c.190C>A (p.Pro64Thr) | |
10 | g.49482777G>A | CA5495773 | ERCC6 | c.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 |
10 | g.49482777G>C | CA376724315 | ERCC6 | c.2079C>G (p.Phe693Leu) n.2157C>G c.1920C>G (p.Phe640Leu) c.*471C>G (n.*471C>G) c.189C>G (p.Phe63Leu) | |
10 | g.49482777G= | CA1908760347 | ERCC6 | c.2079C= (p.Phe693=) n.2157C= c.1920C= (p.Phe640=) c.*471C= (n.*471C=) c.189C= (p.Phe63=) | |
10 | g.49482777G>T | CA376724316 | ERCC6 | c.2079C>A (p.Phe693Leu) n.2157C>A c.1920C>A (p.Phe640Leu) c.*471C>A (n.*471C>A) c.189C>A (p.Phe63Leu) | |
10 | g.49482778A>C | CA376724317 | ERCC6 | c.2078T>G (p.Phe693Cys) n.2156T>G c.1919T>G (p.Phe640Cys) c.*470T>G (n.*470T>G) c.188T>G (p.Phe63Cys) | |
10 | g.49482778A>G | CA376724318 | ERCC6 | c.2078T>C (p.Phe693Ser) n.2156T>C c.1919T>C (p.Phe640Ser) c.*470T>C (n.*470T>C) c.188T>C (p.Phe63Ser) | |
10 | g.49482778A>T | CA376724319 | ERCC6 | c.2078T>A (p.Phe693Tyr) n.2156T>A c.1919T>A (p.Phe640Tyr) c.*470T>A (n.*470T>A) c.188T>A (p.Phe63Tyr) | |
10 | g.49482779A= | CA1908760352 | ERCC6 | c.2077T= (p.Phe693=) n.2155T= c.1918T= (p.Phe640=) c.*469T= (n.*469T=) c.187T= (p.Phe63=) | |
10 | g.49482779A>C | CA376724320 | ERCC6 | c.2077T>G (p.Phe693Val) n.2155T>G c.1918T>G (p.Phe640Val) c.*469T>G (n.*469T>G) c.187T>G (p.Phe63Val) | |
10 | g.49482779A>G | CA376724321 | ERCC6 | c.2077T>C (p.Phe693Leu) n.2155T>C c.1918T>C (p.Phe640Leu) c.*469T>C (n.*469T>C) c.187T>C (p.Phe63Leu) | |
10 | g.49482779A>T | CA5495774 | ERCC6 | c.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 |
10 | g.49482780G>A | CA5495775 | ERCC6 | c.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 |
10 | g.49482780G>C | CA376724322 | ERCC6 | c.2076C>G (p.Ile692Met) n.2154C>G c.1917C>G (p.Ile639Met) c.*468C>G (n.*468C>G) c.186C>G (p.Ile62Met) | |
10 | g.49482780G= | CA1908760359 | ERCC6 | c.2076C= (p.Ile692=) n.2154C= c.1917C= (p.Ile639=) c.*468C= (n.*468C=) c.186C= (p.Ile62=) | |
10 | g.49482780G>T | CA469604030 | ERCC6 | c.2076C>A (p.Ile692=) n.2154C>A c.1917C>A (p.Ile639=) c.*468C>A (n.*468C>A) c.186C>A (p.Ile62=) | |
10 | g.49482781A>C | CA376724323 | ERCC6 | c.2075T>G (p.Ile692Ser) n.2153T>G c.1916T>G (p.Ile639Ser) c.*467T>G (n.*467T>G) c.185T>G (p.Ile62Ser) | |
10 | g.49482781A>G | CA376724325 | ERCC6 | c.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 |
10 | g.49482781A>T | CA376724324 | ERCC6 | c.2075T>A (p.Ile692Asn) n.2153T>A c.1916T>A (p.Ile639Asn) c.*467T>A (n.*467T>A) c.185T>A (p.Ile62Asn) | |
10 | g.49482782T>A | CA376724326 | ERCC6 | c.2074A>T (p.Ile692Phe) n.2152A>T c.1915A>T (p.Ile639Phe) c.*466A>T (n.*466A>T) c.184A>T (p.Ile62Phe) | |
10 | g.49482782T>C | CA376724328 | ERCC6 | c.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 |
10 | g.49482782T>G | CA376724327 | ERCC6 | c.2074A>C (p.Ile692Leu) n.2152A>C c.1915A>C (p.Ile639Leu) c.*466A>C (n.*466A>C) c.184A>C (p.Ile62Leu) | |
10 | g.49482782T= | CA1908760369 | ERCC6 | c.2074A= (p.Ile692=) n.2152A= c.1915A= (p.Ile639=) c.*466A= (n.*466A=) c.184A= (p.Ile62=) | |
10 | g.49482783G>A | CA469604031 | ERCC6 | c.2073C>T (p.Phe691=) n.2151C>T c.1914C>T (p.Phe638=) c.*465C>T (n.*465C>T) c.183C>T (p.Phe61=) | COSMIC |
10 | g.49482783G>C | CA376724329 | ERCC6 | c.2073C>G (p.Phe691Leu) n.2151C>G c.1914C>G (p.Phe638Leu) c.*465C>G (n.*465C>G) c.183C>G (p.Phe61Leu) | |
10 | g.49482783G>T | CA376724330 | ERCC6 | c.2073C>A (p.Phe691Leu) n.2151C>A c.1914C>A (p.Phe638Leu) c.*465C>A (n.*465C>A) c.183C>A (p.Phe61Leu) | |
10 | g.49482796_49482797insGGAAGTCAAAGAGCG | CA915945905 | ERCC6 | c.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 |
10 | g.49482784A>C | CA376724331 | ERCC6 | c.2072T>G (p.Phe691Cys) n.2150T>G c.1913T>G (p.Phe638Cys) c.*464T>G (n.*464T>G) c.182T>G (p.Phe61Cys) | |
10 | g.49482784A>G | CA376724333 | ERCC6 | c.2072T>C (p.Phe691Ser) n.2150T>C c.1913T>C (p.Phe638Ser) c.*464T>C (n.*464T>C) c.182T>C (p.Phe61Ser) | |
10 | g.49482784A>T | CA376724332 | ERCC6 | c.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 |
10 | g.49482785A= | CA1908760377 | ERCC6 | c.2071T= (p.Phe691=) n.2149T= c.1912T= (p.Phe638=) c.*463T= (n.*463T=) c.181T= (p.Phe61=) | |
10 | g.49482785A>C | CA376724334 | ERCC6 | c.2071T>G (p.Phe691Val) n.2149T>G c.1912T>G (p.Phe638Val) c.*463T>G (n.*463T>G) c.181T>G (p.Phe61Val) | dbSNP |
10 | g.49482785A>G | CA376724335 | ERCC6 | c.2071T>C (p.Phe691Leu) n.2149T>C c.1912T>C (p.Phe638Leu) c.*463T>C (n.*463T>C) c.181T>C (p.Phe61Leu) | |
10 | g.49482785A>T | CA376724336 | ERCC6 | c.2071T>A (p.Phe691Ile) n.2149T>A c.1912T>A (p.Phe638Ile) c.*463T>A (n.*463T>A) c.181T>A (p.Phe61Ile) | |
10 | g.49482786G>A | CA469604032 | ERCC6 | c.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 |
10 | g.49482786G>C | CA376724337 | ERCC6 | c.2070C>G (p.Asp690Glu) n.2148C>G c.1911C>G (p.Asp637Glu) c.*462C>G (n.*462C>G) c.180C>G (p.Asp60Glu) | |
10 | g.49482786G= | CA1908760386 | ERCC6 | c.2070C= (p.Asp690=) n.2148C= c.1911C= (p.Asp637=) c.*462C= (n.*462C=) c.180C= (p.Asp60=) | |
10 | g.49482786G>T | CA376724338 | ERCC6 | c.2070C>A (p.Asp690Glu) n.2148C>A c.1911C>A (p.Asp637Glu) c.*462C>A (n.*462C>A) c.180C>A (p.Asp60Glu) | |
10 | g.49482787T>A | CA376724339 | ERCC6 | c.2069A>T (p.Asp690Val) n.2147A>T c.1910A>T (p.Asp637Val) c.*461A>T (n.*461A>T) c.179A>T (p.Asp60Val) | |
10 | g.49482787T>C | CA376724340 | ERCC6 | c.2069A>G (p.Asp690Gly) n.2147A>G c.1910A>G (p.Asp637Gly) c.*461A>G (n.*461A>G) c.179A>G (p.Asp60Gly) | |
10 | g.49482787T>G | CA376724341 | ERCC6 | c.2069A>C (p.Asp690Ala) n.2147A>C c.1910A>C (p.Asp637Ala) c.*461A>C (n.*461A>C) c.179A>C (p.Asp60Ala) | |
10 | g.49482788C>A | CA376724342 | ERCC6 | c.2068G>T (p.Asp690Tyr) n.2146G>T c.1909G>T (p.Asp637Tyr) c.*460G>T (n.*460G>T) c.178G>T (p.Asp60Tyr) | |
10 | g.49482788C>G | CA376724343 | ERCC6 | c.2068G>C (p.Asp690His) n.2146G>C c.1909G>C (p.Asp637His) c.*460G>C (n.*460G>C) c.178G>C (p.Asp60His) | |
10 | g.49482788C>T | CA376724344 | ERCC6 | c.2068G>A (p.Asp690Asn) n.2146G>A c.1909G>A (p.Asp637Asn) c.*460G>A (n.*460G>A) c.178G>A (p.Asp60Asn) | |
10 | g.49482789A>C | CA376724345 | ERCC6 | c.2067T>G (p.Phe689Leu) n.2145T>G c.1908T>G (p.Phe636Leu) c.*459T>G (n.*459T>G) c.177T>G (p.Phe59Leu) | |
10 | g.49482789A>G | CA469604033 | ERCC6 | c.2067T>C (p.Phe689=) n.2145T>C c.1908T>C (p.Phe636=) c.*459T>C (n.*459T>C) c.177T>C (p.Phe59=) | |
10 | g.49482789A>T | CA376724346 | ERCC6 | c.2067T>A (p.Phe689Leu) n.2145T>A c.1908T>A (p.Phe636Leu) c.*459T>A (n.*459T>A) c.177T>A (p.Phe59Leu) | |
10 | g.49482790_49482791del | CA2573145160 | ERCC6 | c.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 |
10 | g.49482790A>C | CA376724347 | ERCC6 | c.2066T>G (p.Phe689Cys) n.2144T>G c.1907T>G (p.Phe636Cys) c.*458T>G (n.*458T>G) c.176T>G (p.Phe59Cys) | |
10 | g.49482790A>G | CA376724349 | ERCC6 | c.2066T>C (p.Phe689Ser) n.2144T>C c.1907T>C (p.Phe636Ser) c.*458T>C (n.*458T>C) c.176T>C (p.Phe59Ser) | |
10 | g.49482790A>T | CA376724348 | ERCC6 | c.2066T>A (p.Phe689Tyr) n.2144T>A c.1907T>A (p.Phe636Tyr) c.*458T>A (n.*458T>A) c.176T>A (p.Phe59Tyr) | |
10 | g.49482791A>C | CA376724350 | ERCC6 | c.2065T>G (p.Phe689Val) n.2143T>G c.1906T>G (p.Phe636Val) c.*457T>G (n.*457T>G) c.175T>G (p.Phe59Val) | |
10 | g.49482791A>G | CA376724351 | ERCC6 | c.2065T>C (p.Phe689Leu) n.2143T>C c.1906T>C (p.Phe636Leu) c.*457T>C (n.*457T>C) c.175T>C (p.Phe59Leu) | |
10 | g.49482791A>T | CA376724352 | ERCC6 | c.2065T>A (p.Phe689Ile) n.2143T>A c.1906T>A (p.Phe636Ile) c.*457T>A (n.*457T>A) c.175T>A (p.Phe59Ile) | |
10 | g.49482792G>A | CA469604036 | ERCC6 | c.2064C>T (p.Leu688=) n.2142C>T c.1905C>T (p.Leu635=) c.*456C>T (n.*456C>T) c.174C>T (p.Leu58=) | |
10 | g.49482792G>C | CA469604035 | ERCC6 | c.2064C>G (p.Leu688=) n.2142C>G c.1905C>G (p.Leu635=) c.*456C>G (n.*456C>G) c.174C>G (p.Leu58=) | |
10 | g.49482792G>T | CA469604034 | ERCC6 | c.2064C>A (p.Leu688=) n.2142C>A c.1905C>A (p.Leu635=) c.*456C>A (n.*456C>A) c.174C>A (p.Leu58=) | |
10 | g.49482793A= | CA1908760388 | ERCC6 | c.2063T= (p.Leu688=) n.2141T= c.1904T= (p.Leu635=) c.*455T= (n.*455T=) c.173T= (p.Leu58=) | |
10 | g.49482793A>C | CA376724353 | ERCC6 | c.2063T>G (p.Leu688Arg) n.2141T>G c.1904T>G (p.Leu635Arg) c.*455T>G (n.*455T>G) c.173T>G (p.Leu58Arg) | |
10 | g.49482793A>G | CA376724354 | ERCC6 | c.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 |
10 | g.49482793A>T | CA376724355 | ERCC6 | c.2063T>A (p.Leu688His) n.2141T>A c.1904T>A (p.Leu635His) c.*455T>A (n.*455T>A) c.173T>A (p.Leu58His) | |
10 | g.49482794G>A | CA5495776 | ERCC6 | c.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 |
10 | g.49482794G>C | CA376724356 | ERCC6 | c.2062C>G (p.Leu688Val) n.2140C>G c.1903C>G (p.Leu635Val) c.*454C>G (n.*454C>G) c.172C>G (p.Leu58Val) | |
10 | g.49482794G= | CA1908760391 | ERCC6 | c.2062C= (p.Leu688=) n.2140C= c.1903C= (p.Leu635=) c.*454C= (n.*454C=) c.172C= (p.Leu58=) | |
10 | g.49482794G>T | CA376724357 | ERCC6 | c.2062C>A (p.Leu688Ile) n.2140C>A c.1903C>A (p.Leu635Ile) c.*454C>A (n.*454C>A) c.172C>A (p.Leu58Ile) | |
10 | g.49482795C>A | CA5495778 | ERCC6 | c.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 |
10 | g.49482795C= | CA1908760397 | ERCC6 | c.2061G= (p.Ser687=) n.2139G= c.1902G= (p.Ser634=) c.*453G= (n.*453G=) c.171G= (p.Ser57=) | |
10 | g.49482795C>G | CA469604037 | ERCC6 | c.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 |
10 | g.49482795C>T | CA5495777 | ERCC6 | c.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 |
10 | g.49482796G>A | CA206595753 | ERCC6 | c.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 |
10 | g.49482796G>C | CA376724359 | ERCC6 | c.2060C>G (p.Ser687Trp) n.2138C>G c.1901C>G (p.Ser634Trp) c.*452C>G (n.*452C>G) c.170C>G (p.Ser57Trp) | COSMIC |
10 | g.49482796G= | CA1908760404 | ERCC6 | c.2060C= (p.Ser687=) n.2138C= c.1901C= (p.Ser634=) c.*452C= (n.*452C=) c.170C= (p.Ser57=) | |
10 | g.49482796G>T | CA376724358 | ERCC6 | c.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 |
10 | g.49482797A>C | CA376724362 | ERCC6 | c.2059T>G (p.Ser687Ala) n.2137T>G c.1900T>G (p.Ser634Ala) c.*451T>G (n.*451T>G) c.169T>G (p.Ser57Ala) | |
10 | g.49482797A>G | CA376724360 | ERCC6 | c.2059T>C (p.Ser687Pro) n.2137T>C c.1900T>C (p.Ser634Pro) c.*451T>C (n.*451T>C) c.169T>C (p.Ser57Pro) | |
10 | g.49482797A>T | CA376724361 | ERCC6 | c.2059T>A (p.Ser687Thr) n.2137T>A c.1900T>A (p.Ser634Thr) c.*451T>A (n.*451T>A) c.169T>A (p.Ser57Thr) | |
10 | g.49482798C>A | CA376724363 | ERCC6 | c.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 |
10 | g.49482798C= | CA1908760416 | ERCC6 | c.2058G= (p.Trp686=) n.2136G= c.1899G= (p.Trp633=) c.*450G= (n.*450G=) c.168G= (p.Trp56=) | |
10 | g.49482798C>G | CA5495779 | ERCC6 | c.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 |
10 | g.49482798C>T | CA376724364 | ERCC6 | c.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 |
10 | g.49482799C>A | CA376724365 | ERCC6 | c.2057G>T (p.Trp686Leu) n.2135G>T c.1898G>T (p.Trp633Leu) c.*449G>T (n.*449G>T) c.167G>T (p.Trp56Leu) | |
10 | g.49482799C>G | CA376724366 | ERCC6 | c.2057G>C (p.Trp686Ser) n.2135G>C c.1898G>C (p.Trp633Ser) c.*449G>C (n.*449G>C) c.167G>C (p.Trp56Ser) | |
10 | g.49482799C>T | CA376724367 | ERCC6 | c.2057G>A (p.Trp686Ter) n.2135G>A c.1898G>A (p.Trp633Ter) c.*449G>A (n.*449G>A) c.167G>A (p.Trp56Ter) | |
10 | g.49482800A= | CA1908760424 | ERCC6 | c.2056T= (p.Trp686=) n.2134T= c.1897T= (p.Trp633=) c.*448T= (n.*448T=) c.166T= (p.Trp56=) | |
10 | g.49482800A>C | CA376724368 | ERCC6 | c.2056T>G (p.Trp686Gly) n.2134T>G c.1897T>G (p.Trp633Gly) c.*448T>G (n.*448T>G) c.166T>G (p.Trp56Gly) | |
10 | g.49482800A>G | CA376724369 | ERCC6 | c.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 |
10 | g.49482800A>T | CA376724370 | ERCC6 | c.2056T>A (p.Trp686Arg) n.2134T>A c.1897T>A (p.Trp633Arg) c.*448T>A (n.*448T>A) c.166T>A (p.Trp56Arg) | |
10 | g.49482801C>A | CA469604040 | ERCC6 | c.2055G>T (p.Leu685=) n.2133G>T c.1896G>T (p.Leu632=) c.*447G>T (n.*447G>T) c.165G>T (p.Leu55=) | |
10 | g.49482801C= | CA1908760428 | ERCC6 | c.2055G= (p.Leu685=) n.2133G= c.1896G= (p.Leu632=) c.*447G= (n.*447G=) c.165G= (p.Leu55=) | |
10 | g.49482801C>G | CA469604038 | ERCC6 | c.2055G>C (p.Leu685=) n.2133G>C c.1896G>C (p.Leu632=) c.*447G>C (n.*447G>C) c.165G>C (p.Leu55=) | |
10 | g.49482801C>T | CA469604039 | ERCC6 | c.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 |
10 | g.49482802A= | CA1908760431 | ERCC6 | c.2054T= (p.Leu685=) n.2132T= c.1895T= (p.Leu632=) c.*446T= (n.*446T=) c.164T= (p.Leu55=) | |
10 | g.49482802A>C | CA376724371 | ERCC6 | c.2054T>G (p.Leu685Arg) n.2132T>G c.1895T>G (p.Leu632Arg) c.*446T>G (n.*446T>G) c.164T>G (p.Leu55Arg) | |
10 | g.49482802A>G | CA376724372 | ERCC6 | c.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 |
10 | g.49482802A>T | CA376724373 | ERCC6 | c.2054T>A (p.Leu685Gln) n.2132T>A c.1895T>A (p.Leu632Gln) c.*446T>A (n.*446T>A) c.164T>A (p.Leu55Gln) | |
10 | g.49482803G>A | CA469604041 | ERCC6 | c.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 |
10 | g.49482803G>C | CA206595759 | ERCC6 | c.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 |
10 | g.49482803G= | CA1908760441 | ERCC6 | c.2053C= (p.Leu685=) n.2131C= c.1894C= (p.Leu632=) c.*445C= (n.*445C=) c.163C= (p.Leu55=) | |
10 | g.49482803G>T | CA376724374 | ERCC6 | c.2053C>A (p.Leu685Met) n.2131C>A c.1894C>A (p.Leu632Met) c.*445C>A (n.*445C>A) c.163C>A (p.Leu55Met) | |
10 | g.49482804C>A | CA376724375 | ERCC6 | c.2052G>T (p.Glu684Asp) n.2130G>T c.1893G>T (p.Glu631Asp) c.*444G>T (n.*444G>T) c.162G>T (p.Glu54Asp) | |
10 | g.49482804C>G | CA376724376 | ERCC6 | c.2052G>C (p.Glu684Asp) n.2130G>C c.1893G>C (p.Glu631Asp) c.*444G>C (n.*444G>C) c.162G>C (p.Glu54Asp) | |
10 | g.49482804C>T | CA469604042 | ERCC6 | c.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 |
10 | g.49482805T>A | CA376724377 | ERCC6 | c.2051A>T (p.Glu684Val) n.2129A>T c.1892A>T (p.Glu631Val) c.*443A>T (n.*443A>T) c.161A>T (p.Glu54Val) | |
10 | g.49482805T>C | CA376724378 | ERCC6 | c.2051A>G (p.Glu684Gly) n.2129A>G c.1892A>G (p.Glu631Gly) c.*443A>G (n.*443A>G) c.161A>G (p.Glu54Gly) | |
10 | g.49482805T>G | CA376724379 | ERCC6 | c.2051A>C (p.Glu684Ala) n.2129A>C c.1892A>C (p.Glu631Ala) c.*443A>C (n.*443A>C) c.161A>C (p.Glu54Ala) | |
10 | g.49482806C>A | CA376724380 | ERCC6 | c.2050G>T (p.Glu684Ter) n.2128G>T c.1891G>T (p.Glu631Ter) c.*442G>T (n.*442G>T) c.160G>T (p.Glu54Ter) | |
10 | g.49482806C>G | CA376724381 | ERCC6 | c.2050G>C (p.Glu684Gln) n.2128G>C c.1891G>C (p.Glu631Gln) c.*442G>C (n.*442G>C) c.160G>C (p.Glu54Gln) | |
10 | g.49482806C>T | CA376724382 | ERCC6 | c.2050G>A (p.Glu684Lys) n.2128G>A c.1891G>A (p.Glu631Lys) c.*442G>A (n.*442G>A) c.160G>A (p.Glu54Lys) | |
10 | g.49482807T>A | CA469604043 | ERCC6 | c.2049A>T (p.Arg683=) n.2127A>T c.1890A>T (p.Arg630=) c.*441A>T (n.*441A>T) c.159A>T (p.Arg53=) | |
10 | g.49482807T>C | CA469604044 | ERCC6 | c.2049A>G (p.Arg683=) n.2127A>G c.1890A>G (p.Arg630=) c.*441A>G (n.*441A>G) c.159A>G (p.Arg53=) | |
10 | g.49482807T>G | CA469604045 | ERCC6 | c.2049A>C (p.Arg683=) n.2127A>C c.1890A>C (p.Arg630=) c.*441A>C (n.*441A>C) c.159A>C (p.Arg53=) | |
10 | g.49482808C>A | CA376724383 | ERCC6 | c.2048G>T (p.Arg683Leu) n.2126G>T c.1889G>T (p.Arg630Leu) c.*440G>T (n.*440G>T) c.158G>T (p.Arg53Leu) | |
10 | g.49482808C= | CA1908760451 | ERCC6 | c.2048G= (p.Arg683=) n.2126G= c.1889G= (p.Arg630=) c.*440G= (n.*440G=) c.158G= (p.Arg53=) | |
10 | g.49482808C>G | CA376724384 | ERCC6 | c.2048G>C (p.Arg683Pro) n.2126G>C c.1889G>C (p.Arg630Pro) c.*440G>C (n.*440G>C) c.158G>C (p.Arg53Pro) | |
10 | g.49482808C>T | CA239092 | ERCC6 | c.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 |
10 | g.49482809G>A | CA115159 | ERCC6 | c.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 |
10 | g.49482809G>C | CA376724385 | ERCC6 | c.2047C>G (p.Arg683Gly) n.2125C>G c.1888C>G (p.Arg630Gly) c.*439C>G (n.*439C>G) c.157C>G (p.Arg53Gly) | ClinVar |
10 | g.49482809G= | CA1908760460 | ERCC6 | c.2047C= (p.Arg683=) n.2125C= c.1888C= (p.Arg630=) c.*439C= (n.*439C=) c.157C= (p.Arg53=) | |
10 | g.49482809G>T | CA469604046 | ERCC6 | c.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 |
10 | g.49482810G>A | CA469604048 | ERCC6 | c.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 |
10 | g.49482810G>C | CA469604047 | ERCC6 | c.2046C>G (p.Leu682=) n.2124C>G c.1887C>G (p.Leu629=) c.*438C>G (n.*438C>G) c.156C>G (p.Leu52=) | |
10 | g.49482810G>T | CA469604049 | ERCC6 | c.2046C>A (p.Leu682=) n.2124C>A c.1887C>A (p.Leu629=) c.*438C>A (n.*438C>A) c.156C>A (p.Leu52=) | |
10 | g.49482811A>C | CA376724387 | ERCC6 | c.2045T>G (p.Leu682Arg) n.2123T>G c.1886T>G (p.Leu629Arg) c.*437T>G (n.*437T>G) c.155T>G (p.Leu52Arg) | COSMIC |
10 | g.49482811A>G | CA376724388 | ERCC6 | c.2045T>C (p.Leu682Pro) n.2123T>C c.1886T>C (p.Leu629Pro) c.*437T>C (n.*437T>C) c.155T>C (p.Leu52Pro) | |
10 | g.49482811A>T | CA376724386 | ERCC6 | c.2045T>A (p.Leu682His) n.2123T>A c.1886T>A (p.Leu629His) c.*437T>A (n.*437T>A) c.155T>A (p.Leu52His) | |
10 | g.49482812G>A | CA5495780 | ERCC6 | c.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 |
10 | g.49482812G>C | CA376724390 | ERCC6 | c.2044C>G (p.Leu682Val) n.2122C>G c.1885C>G (p.Leu629Val) c.*436C>G (n.*436C>G) c.154C>G (p.Leu52Val) | |
10 | g.49482812G= | CA1908760468 | ERCC6 | c.2044C= (p.Leu682=) n.2122C= c.1885C= (p.Leu629=) c.*436C= (n.*436C=) c.154C= (p.Leu52=) | |
10 | g.49482812G>T | CA376724389 | ERCC6 | c.2044C>A (p.Leu682Ile) n.2122C>A c.1885C>A (p.Leu629Ile) c.*436C>A (n.*436C>A) c.154C>A (p.Leu52Ile) | |
10 | g.49482813G>A | CA469604050 | ERCC6 | c.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 |
10 | g.49482813G>C | CA376724391 | ERCC6 | c.2043C>G (p.Asn681Lys) n.2121C>G c.1884C>G (p.Asn628Lys) c.*435C>G (n.*435C>G) c.153C>G (p.Asn51Lys) | |
10 | g.49482813G= | CA1908760473 | ERCC6 | c.2043C= (p.Asn681=) n.2121C= c.1884C= (p.Asn628=) c.*435C= (n.*435C=) c.153C= (p.Asn51=) | |
10 | g.49482813G>T | CA376724392 | ERCC6 | c.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 |
10 | g.49482814T>A | CA376724393 | ERCC6 | c.2042A>T (p.Asn681Ile) n.2120A>T c.1883A>T (p.Asn628Ile) c.*434A>T (n.*434A>T) c.152A>T (p.Asn51Ile) | |
10 | g.49482814T>C | CA376724394 | ERCC6 | c.2042A>G (p.Asn681Ser) n.2120A>G c.1883A>G (p.Asn628Ser) c.*434A>G (n.*434A>G) c.152A>G (p.Asn51Ser) | |
10 | g.49482814T>G | CA376724395 | ERCC6 | c.2042A>C (p.Asn681Thr) n.2120A>C c.1883A>C (p.Asn628Thr) c.*434A>C (n.*434A>C) c.152A>C (p.Asn51Thr) | |
10 | g.49482815T>A | CA376724396 | ERCC6 | c.2041A>T (p.Asn681Tyr) n.2119A>T c.1882A>T (p.Asn628Tyr) c.*433A>T (n.*433A>T) c.151A>T (p.Asn51Tyr) | |
10 | g.49482815T>C | CA376724397 | ERCC6 | c.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 |
10 | g.49482815T>G | CA376724398 | ERCC6 | c.2041A>C (p.Asn681His) n.2119A>C c.1882A>C (p.Asn628His) c.*433A>C (n.*433A>C) c.151A>C (p.Asn51His) | |
10 | g.49482816A>C | CA376724399 | ERCC6 | c.2040T>G (p.Asn680Lys) n.2118T>G c.1881T>G (p.Asn627Lys) c.*432T>G (n.*432T>G) c.150T>G (p.Asn50Lys) | |
10 | g.49482816A>G | CA469604051 | ERCC6 | c.2040T>C (p.Asn680=) n.2118T>C c.1881T>C (p.Asn627=) c.*432T>C (n.*432T>C) c.150T>C (p.Asn50=) | |
10 | g.49482816A>T | CA376724400 | ERCC6 | c.2040T>A (p.Asn680Lys) n.2118T>A c.1881T>A (p.Asn627Lys) c.*432T>A (n.*432T>A) c.150T>A (p.Asn50Lys) | |
10 | g.49482817T>A | CA376724403 | ERCC6 | c.2039A>T (p.Asn680Ile) n.2117A>T c.1880A>T (p.Asn627Ile) c.*431A>T (n.*431A>T) c.149A>T (p.Asn50Ile) | |
10 | g.49482817T>C | CA376724402 | ERCC6 | c.2039A>G (p.Asn680Ser) n.2117A>G c.1880A>G (p.Asn627Ser) c.*431A>G (n.*431A>G) c.149A>G (p.Asn50Ser) | |
10 | g.49482817T>G | CA376724401 | ERCC6 | c.2039A>C (p.Asn680Thr) n.2117A>C c.1880A>C (p.Asn627Thr) c.*431A>C (n.*431A>C) c.149A>C (p.Asn50Thr) | |
10 | g.49482818T>A | CA376724404 | ERCC6 | c.2038A>T (p.Asn680Tyr) n.2116A>T c.1879A>T (p.Asn627Tyr) c.*430A>T (n.*430A>T) c.148A>T (p.Asn50Tyr) | |
10 | g.49482818T>C | CA376724405 | ERCC6 | c.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 |
10 | g.49482818T>G | CA376724406 | ERCC6 | c.2038A>C (p.Asn680His) n.2116A>C c.1879A>C (p.Asn627His) c.*430A>C (n.*430A>C) c.148A>C (p.Asn50His) | |
10 | g.49482818T= | CA1908760478 | ERCC6 | c.2038A= (p.Asn680=) n.2116A= c.1879A= (p.Asn627=) c.*430A= (n.*430A=) c.148A= (p.Asn50=) | |
10 | g.49482819T>A | CA376724407 | ERCC6 | c.2037A>T (p.Gln679His) n.2115A>T c.1878A>T (p.Gln626His) c.*429A>T (n.*429A>T) c.147A>T (p.Gln49His) | |
10 | g.49482819T>C | CA5495781 | ERCC6 | c.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 |
10 | g.49482819T>G | CA376724408 | ERCC6 | c.2037A>C (p.Gln679His) n.2115A>C c.1878A>C (p.Gln626His) c.*429A>C (n.*429A>C) c.147A>C (p.Gln49His) | |
10 | g.49482819T= | CA1908760481 | ERCC6 | c.2037A= (p.Gln679=) n.2115A= c.1878A= (p.Gln626=) c.*429A= (n.*429A=) c.147A= (p.Gln49=) | |
10 | g.49482820T>A | CA376724409 | ERCC6 | c.2036A>T (p.Gln679Leu) n.2114A>T c.1877A>T (p.Gln626Leu) c.*428A>T (n.*428A>T) c.146A>T (p.Gln49Leu) | |
10 | g.49482820T>C | CA376724410 | ERCC6 | c.2036A>G (p.Gln679Arg) n.2114A>G c.1877A>G (p.Gln626Arg) c.*428A>G (n.*428A>G) c.146A>G (p.Gln49Arg) | |
10 | g.49482820T>G | CA376724411 | ERCC6 | c.2036A>C (p.Gln679Pro) n.2114A>C c.1877A>C (p.Gln626Pro) c.*428A>C (n.*428A>C) c.146A>C (p.Gln49Pro) | ClinVar |
10 | g.49482821G>A | CA376724412 | ERCC6 | c.2035C>T (p.Gln679Ter) n.2113C>T c.1876C>T (p.Gln626Ter) c.*427C>T (n.*427C>T) c.145C>T (p.Gln49Ter) | ClinVar |
10 | g.49482821G>C | CA376724413 | ERCC6 | c.2035C>G (p.Gln679Glu) n.2113C>G c.1876C>G (p.Gln626Glu) c.*427C>G (n.*427C>G) c.145C>G (p.Gln49Glu) | |
10 | g.49482821G>T | CA376724414 | ERCC6 | c.2035C>A (p.Gln679Lys) n.2113C>A c.1876C>A (p.Gln626Lys) c.*427C>A (n.*427C>A) c.145C>A (p.Gln49Lys) | |
10 | g.49482822C>A | CA376724416 | ERCC6 | c.2034G>T (p.Met678Ile) n.2112G>T c.1875G>T (p.Met625Ile) c.*426G>T (n.*426G>T) c.144G>T (p.Met48Ile) | |
10 | g.49482822C>G | CA376724417 | ERCC6 | c.2034G>C (p.Met678Ile) n.2112G>C c.1875G>C (p.Met625Ile) c.*426G>C (n.*426G>C) c.144G>C (p.Met48Ile) | |
10 | g.49482822C>T | CA376724415 | ERCC6 | c.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 |
10 | g.49482823A= | CA1908760487 | ERCC6 | c.2033T= (p.Met678=) n.2111T= c.1874T= (p.Met625=) c.*425T= (n.*425T=) c.143T= (p.Met48=) | |
10 | g.49482823A>C | CA376724418 | ERCC6 | c.2033T>G (p.Met678Arg) n.2111T>G c.1874T>G (p.Met625Arg) c.*425T>G (n.*425T>G) c.143T>G (p.Met48Arg) | |
10 | g.49482823A>G | CA5495782 | ERCC6 | c.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 |
10 | g.49482823A>T | CA376724419 | ERCC6 | c.2033T>A (p.Met678Lys) n.2111T>A c.1874T>A (p.Met625Lys) c.*425T>A (n.*425T>A) c.143T>A (p.Met48Lys) | |
10 | g.49482824T>A | CA376724420 | ERCC6 | c.2032A>T (p.Met678Leu) n.2110A>T c.1873A>T (p.Met625Leu) c.*424A>T (n.*424A>T) c.142A>T (p.Met48Leu) | |
10 | g.49482824T>C | CA376724421 | ERCC6 | c.2032A>G (p.Met678Val) n.2110A>G c.1873A>G (p.Met625Val) c.*424A>G (n.*424A>G) c.142A>G (p.Met48Val) | |
10 | g.49482824T>G | CA376724422 | ERCC6 | c.2032A>C (p.Met678Leu) n.2110A>C c.1873A>C (p.Met625Leu) c.*424A>C (n.*424A>C) c.142A>C (p.Met48Leu) | |
10 | g.49482825C>A | CA469604052 | ERCC6 | c.2031G>T (p.Pro677=) n.2109G>T c.1872G>T (p.Pro624=) c.*423G>T (n.*423G>T) c.141G>T (p.Pro47=) | |
10 | g.49482825C= | CA1908760493 | ERCC6 | c.2031G= (p.Pro677=) n.2109G= c.1872G= (p.Pro624=) c.*423G= (n.*423G=) c.141G= (p.Pro47=) | |
10 | g.49482825C>G | CA469604054 | ERCC6 | c.2031G>C (p.Pro677=) n.2109G>C c.1872G>C (p.Pro624=) c.*423G>C (n.*423G>C) c.141G>C (p.Pro47=) | ClinVar |
10 | g.49482825C>T | CA469604053 | ERCC6 | c.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 |
10 | g.49482826G>A | CA206595768 | ERCC6 | c.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 |
10 | g.49482826G>C | CA376724423 | ERCC6 | c.2030C>G (p.Pro677Arg) n.2108C>G c.1871C>G (p.Pro624Arg) c.*422C>G (n.*422C>G) c.140C>G (p.Pro47Arg) | |
10 | g.49482826G= | CA1908760499 | ERCC6 | c.2030C= (p.Pro677=) n.2108C= c.1871C= (p.Pro624=) c.*422C= (n.*422C=) c.140C= (p.Pro47=) | |
10 | g.49482826G>T | CA376724424 | ERCC6 | c.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 |
10 | g.49482827G>A | CA376724425 | ERCC6 | c.2029C>T (p.Pro677Ser) n.2107C>T c.1870C>T (p.Pro624Ser) c.*421C>T (n.*421C>T) c.139C>T (p.Pro47Ser) | ClinVar |
10 | g.49482827G>C | CA376724426 | ERCC6 | c.2029C>G (p.Pro677Ala) n.2107C>G c.1870C>G (p.Pro624Ala) c.*421C>G (n.*421C>G) c.139C>G (p.Pro47Ala) | |
10 | g.49482827G>T | CA376724427 | ERCC6 | c.2029C>A (p.Pro677Thr) n.2107C>A c.1870C>A (p.Pro624Thr) c.*421C>A (n.*421C>A) c.139C>A (p.Pro47Thr) | |
10 | g.49482828T>A | CA469604055 | ERCC6 | c.2028A>T (p.Ser676=) n.2106A>T c.1869A>T (p.Ser623=) c.*420A>T (n.*420A>T) c.138A>T (p.Ser46=) | |
10 | g.49482828T>C | CA469604057 | ERCC6 | c.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 |
10 | g.49482828T>G | CA469604056 | ERCC6 | c.2028A>C (p.Ser676=) n.2106A>C c.1869A>C (p.Ser623=) c.*420A>C (n.*420A>C) c.138A>C (p.Ser46=) | |
10 | g.49482828T= | CA1908760505 | ERCC6 | c.2028A= (p.Ser676=) n.2106A= c.1869A= (p.Ser623=) c.*420A= (n.*420A=) c.138A= (p.Ser46=) | |
10 | g.49482829G>A | CA376724429 | ERCC6 | c.2027C>T (p.Ser676Leu) n.2105C>T c.1868C>T (p.Ser623Leu) c.*419C>T (n.*419C>T) c.137C>T (p.Ser46Leu) | |
10 | g.49482829G>C | CA376724430 | ERCC6 | c.2027C>G (p.Ser676Ter) n.2105C>G c.1868C>G (p.Ser623Ter) c.*419C>G (n.*419C>G) c.137C>G (p.Ser46Ter) | |
10 | g.49482829G>T | CA376724428 | ERCC6 | c.2027C>A (p.Ser676Ter) n.2105C>A c.1868C>A (p.Ser623Ter) c.*419C>A (n.*419C>A) c.137C>A (p.Ser46Ter) | |
10 | g.49482830A>C | CA376724431 | ERCC6 | c.2026T>G (p.Ser676Ala) n.2104T>G c.1867T>G (p.Ser623Ala) c.*418T>G (n.*418T>G) c.136T>G (p.Ser46Ala) | |
10 | g.49482830A>G | CA376724432 | ERCC6 | c.2026T>C (p.Ser676Pro) n.2104T>C c.1867T>C (p.Ser623Pro) c.*418T>C (n.*418T>C) c.136T>C (p.Ser46Pro) | |
10 | g.49482830A>T | CA376724433 | ERCC6 | c.2026T>A (p.Ser676Thr) n.2104T>A c.1867T>A (p.Ser623Thr) c.*418T>A (n.*418T>A) c.136T>A (p.Ser46Thr) | |
10 | g.49482831G>A | CA469604058 | ERCC6 | c.2025C>T (p.Gly675=) n.2103C>T c.1866C>T (p.Gly622=) c.*417C>T (n.*417C>T) c.135C>T (p.Gly45=) | |
10 | g.49482831G>C | CA469604059 | ERCC6 | c.2025C>G (p.Gly675=) n.2103C>G c.1866C>G (p.Gly622=) c.*417C>G (n.*417C>G) c.135C>G (p.Gly45=) | |
10 | g.49482831G>T | CA469604060 | ERCC6 | c.2025C>A (p.Gly675=) n.2103C>A c.1866C>A (p.Gly622=) c.*417C>A (n.*417C>A) c.135C>A (p.Gly45=) | |
10 | g.49482832C>A | CA376724434 | ERCC6 | c.2024G>T (p.Gly675Val) n.2102G>T c.1865G>T (p.Gly622Val) c.*416G>T (n.*416G>T) c.134G>T (p.Gly45Val) | |
10 | g.49482832C>G | CA376724435 | ERCC6 | c.2024G>C (p.Gly675Ala) n.2102G>C c.1865G>C (p.Gly622Ala) c.*416G>C (n.*416G>C) c.134G>C (p.Gly45Ala) | |
10 | g.49482832C>T | CA376724436 | ERCC6 | c.2024G>A (p.Gly675Asp) n.2102G>A c.1865G>A (p.Gly622Asp) c.*416G>A (n.*416G>A) c.134G>A (p.Gly45Asp) | |
10 | g.49482833C>A | CA376724437 | ERCC6 | c.2023G>T (p.Gly675Cys) n.2101G>T c.1864G>T (p.Gly622Cys) c.*415G>T (n.*415G>T) c.133G>T (p.Gly45Cys) | |
10 | g.49482833C= | CA1908760508 | ERCC6 | c.2023G= (p.Gly675=) n.2101G= c.1864G= (p.Gly622=) c.*415G= (n.*415G=) c.133G= (p.Gly45=) | |
10 | g.49482833C>G | CA376724439 | ERCC6 | c.2023G>C (p.Gly675Arg) n.2101G>C c.1864G>C (p.Gly622Arg) c.*415G>C (n.*415G>C) c.133G>C (p.Gly45Arg) | |
10 | g.49482833C>T | CA376724438 | ERCC6 | c.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 |
10 | g.49482834A= | CA1908760512 | ERCC6 | c.2022T= (p.Ser674=) n.2100T= c.1863T= (p.Ser621=) c.*414T= (n.*414T=) c.132T= (p.Ser44=) | |
10 | g.49482834A>C | CA469604062 | ERCC6 | c.2022T>G (p.Ser674=) n.2100T>G c.1863T>G (p.Ser621=) c.*414T>G (n.*414T>G) c.132T>G (p.Ser44=) | |
10 | g.49482834A>G | CA469604061 | ERCC6 | c.2022T>C (p.Ser674=) n.2100T>C c.1863T>C (p.Ser621=) c.*414T>C (n.*414T>C) c.132T>C (p.Ser44=) | |
10 | g.49482834A>T | CA5495783 | ERCC6 | c.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 |
10 | g.49482835G>A | CA376724440 | ERCC6 | c.2021C>T (p.Ser674Phe) n.2099C>T c.1862C>T (p.Ser621Phe) c.*413C>T (n.*413C>T) c.131C>T (p.Ser44Phe) | |
10 | g.49482835G>C | CA376724441 | ERCC6 | c.2021C>G (p.Ser674Cys) n.2099C>G c.1862C>G (p.Ser621Cys) c.*413C>G (n.*413C>G) c.131C>G (p.Ser44Cys) | |
10 | g.49482835G>T | CA376724442 | ERCC6 | c.2021C>A (p.Ser674Tyr) n.2099C>A c.1862C>A (p.Ser621Tyr) c.*413C>A (n.*413C>A) c.131C>A (p.Ser44Tyr) | |
10 | g.49482836A>C | CA376724443 | ERCC6 | c.2020T>G (p.Ser674Ala) n.2098T>G c.1861T>G (p.Ser621Ala) c.*412T>G (n.*412T>G) c.130T>G (p.Ser44Ala) | |
10 | g.49482836A>G | CA376724445 | ERCC6 | c.2020T>C (p.Ser674Pro) n.2098T>C c.1861T>C (p.Ser621Pro) c.*412T>C (n.*412T>C) c.130T>C (p.Ser44Pro) | |
10 | g.49482836A>T | CA376724444 | ERCC6 | c.2020T>A (p.Ser674Thr) n.2098T>A c.1861T>A (p.Ser621Thr) c.*412T>A (n.*412T>A) c.130T>A (p.Ser44Thr) | |
10 | g.49482837C>A | CA469604063 | ERCC6 | c.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 |
10 | g.49482837C= | CA1908760520 | ERCC6 | c.2019G= (p.Leu673=) n.2097G= c.1860G= (p.Leu620=) c.*411G= (n.*411G=) c.129G= (p.Leu43=) | |
10 | g.49482837C>G | CA469604064 | ERCC6 | c.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 |
10 | g.49482837C>T | CA5495784 | ERCC6 | c.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 |
10 | g.49482838A>C | CA376724448 | ERCC6 | c.2018T>G (p.Leu673Arg) n.2096T>G c.1859T>G (p.Leu620Arg) c.*410T>G (n.*410T>G) c.128T>G (p.Leu43Arg) | |
10 | g.49482838A>G | CA376724446 | ERCC6 | c.2018T>C (p.Leu673Pro) n.2096T>C c.1859T>C (p.Leu620Pro) c.*410T>C (n.*410T>C) c.128T>C (p.Leu43Pro) | |
10 | g.49482838A>T | CA376724447 | ERCC6 | c.2018T>A (p.Leu673Gln) n.2096T>A c.1859T>A (p.Leu620Gln) c.*410T>A (n.*410T>A) c.128T>A (p.Leu43Gln) | |
10 | g.49482839G>A | CA469604065 | ERCC6 | c.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 |
10 | g.49482839G>C | CA376724449 | ERCC6 | c.2017C>G (p.Leu673Val) n.2095C>G c.1858C>G (p.Leu620Val) c.*409C>G (n.*409C>G) c.127C>G (p.Leu43Val) | |
10 | g.49482839G>T | CA376724450 | ERCC6 | c.2017C>A (p.Leu673Met) n.2095C>A c.1858C>A (p.Leu620Met) c.*409C>A (n.*409C>A) c.127C>A (p.Leu43Met) | |
10 | g.49482840A>C | CA376724451 | ERCC6 | c.2016T>G (p.Ile672Met) n.2094T>G c.1857T>G (p.Ile619Met) c.*408T>G (n.*408T>G) c.126T>G (p.Ile42Met) | |
10 | g.49482840A>G | CA469604066 | ERCC6 | c.2016T>C (p.Ile672=) n.2094T>C c.1857T>C (p.Ile619=) c.*408T>C (n.*408T>C) c.126T>C (p.Ile42=) | ClinVar |
10 | g.49482840A>T | CA469604067 | ERCC6 | c.2016T>A (p.Ile672=) n.2094T>A c.1857T>A (p.Ile619=) c.*408T>A (n.*408T>A) c.126T>A (p.Ile42=) | |
10 | g.49482841A>C | CA376724452 | ERCC6 | c.2015T>G (p.Ile672Ser) n.2093T>G c.1856T>G (p.Ile619Ser) c.*407T>G (n.*407T>G) c.125T>G (p.Ile42Ser) | |
10 | g.49482841A>G | CA376724453 | ERCC6 | c.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 |
10 | g.49482841A>T | CA376724454 | ERCC6 | c.2015T>A (p.Ile672Asn) n.2093T>A c.1856T>A (p.Ile619Asn) c.*407T>A (n.*407T>A) c.125T>A (p.Ile42Asn) | |
10 | g.49482842T>A | CA376724455 | ERCC6 | c.2014A>T (p.Ile672Phe) n.2092A>T c.1855A>T (p.Ile619Phe) c.*406A>T (n.*406A>T) c.124A>T (p.Ile42Phe) | |
10 | g.49482842T>C | CA376724456 | ERCC6 | c.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 |
10 | g.49482842T>G | CA376724457 | ERCC6 | c.2014A>C (p.Ile672Leu) n.2092A>C c.1855A>C (p.Ile619Leu) c.*406A>C (n.*406A>C) c.124A>C (p.Ile42Leu) | |
10 | g.49482843G>A | CA5495785 | ERCC6 | c.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 |
10 | g.49482843G>C | CA376724458 | ERCC6 | c.2013C>G (p.Ile671Met) n.2091C>G c.1854C>G (p.Ile618Met) c.*405C>G (n.*405C>G) c.123C>G (p.Ile41Met) | |
10 | g.49482843G= | CA1908760533 | ERCC6 | c.2013C= (p.Ile671=) n.2091C= c.1854C= (p.Ile618=) c.*405C= (n.*405C=) c.123C= (p.Ile41=) | |
10 | g.49482843G>T | CA469604068 | ERCC6 | c.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 |
10 | g.49482844A>C | CA376724459 | ERCC6 | c.2012T>G (p.Ile671Ser) n.2090T>G c.1853T>G (p.Ile618Ser) c.*404T>G (n.*404T>G) c.122T>G (p.Ile41Ser) | |
10 | g.49482844A>G | CA376724461 | ERCC6 | c.2012T>C (p.Ile671Thr) n.2090T>C c.1853T>C (p.Ile618Thr) c.*404T>C (n.*404T>C) c.122T>C (p.Ile41Thr) | |
10 | g.49482844A>T | CA376724460 | ERCC6 | c.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 |
10 | g.49482845T>A | CA376724462 | ERCC6 | c.2011A>T (p.Ile671Phe) n.2089A>T c.1852A>T (p.Ile618Phe) c.*403A>T (n.*403A>T) c.121A>T (p.Ile41Phe) | |
10 | g.49482845T>C | CA5495786 | ERCC6 | c.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 |
10 | g.49482845T>G | CA376724463 | ERCC6 | c.2011A>C (p.Ile671Leu) n.2089A>C c.1852A>C (p.Ile618Leu) c.*403A>C (n.*403A>C) c.121A>C (p.Ile41Leu) | |
10 | g.49482845T= | CA1908760542 | ERCC6 | c.2011A= (p.Ile671=) n.2089A= c.1852A= (p.Ile618=) c.*403A= (n.*403A=) c.121A= (p.Ile41=) | |
10 | g.49482846C>A | CA206595788 | ERCC6 | c.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 |
10 | g.49482846C= | CA1908760546 | ERCC6 | c.2010G= (p.Arg670=) n.2088G= c.1851G= (p.Arg617=) c.*402G= (n.*402G=) c.120G= (p.Arg40=) | |
10 | g.49482846C>G | CA469604069 | ERCC6 | c.2010G>C (p.Arg670=) n.2088G>C c.1851G>C (p.Arg617=) c.*402G>C (n.*402G>C) c.120G>C (p.Arg40=) | |
10 | g.49482846C>T | CA469604070 | ERCC6 | c.2010G>A (p.Arg670=) n.2088G>A c.1851G>A (p.Arg617=) c.*402G>A (n.*402G>A) c.120G>A (p.Arg40=) | |
10 | g.49482847C>A | CA206595798 | ERCC6 | c.2009G>T (p.Arg670Leu) n.2087G>T c.1850G>T (p.Arg617Leu) c.*401G>T (n.*401G>T) c.119G>T (p.Arg40Leu) | dbSNP |
10 | g.49482847C= | CA1908760554 | ERCC6 | c.2009G= (p.Arg670=) n.2087G= c.1850G= (p.Arg617=) c.*401G= (n.*401G=) c.119G= (p.Arg40=) | |
10 | g.49482847C>G | CA376724464 | ERCC6 | c.2009G>C (p.Arg670Pro) n.2087G>C c.1850G>C (p.Arg617Pro) c.*401G>C (n.*401G>C) c.119G>C (p.Arg40Pro) | |
10 | g.49482847C>T | CA376724465 | ERCC6 | c.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 |
10 | g.49482848G>A | CA274698 | ERCC6 | c.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 |
10 | g.49482848G>C | CA376724466 | ERCC6 | c.2008C>G (p.Arg670Gly) n.2086C>G c.1849C>G (p.Arg617Gly) c.*400C>G (n.*400C>G) c.118C>G (p.Arg40Gly) | COSMIC |
10 | g.49482848G= | CA1908760559 | ERCC6 | c.2008C= (p.Arg670=) n.2086C= c.1849C= (p.Arg617=) c.*400C= (n.*400C=) c.118C= (p.Arg40=) | |
10 | g.49482848G>T | CA469604071 | ERCC6 | c.2008C>A (p.Arg670=) n.2086C>A c.1849C>A (p.Arg617=) c.*400C>A (n.*400C>A) c.118C>A (p.Arg40=) | |
10 | g.49482849A= | CA1908760564 | ERCC6 | c.2007T= (p.His669=) n.2085T= c.1848T= (p.His616=) c.*399T= (n.*399T=) c.117T= (p.His39=) | |
10 | g.49482849A>C | CA376724467 | ERCC6 | c.2007T>G (p.His669Gln) n.2085T>G c.1848T>G (p.His616Gln) c.*399T>G (n.*399T>G) c.117T>G (p.His39Gln) | |
10 | g.49482849A>G | CA469604072 | ERCC6 | c.2007T>C (p.His669=) n.2085T>C c.1848T>C (p.His616=) c.*399T>C (n.*399T>C) c.117T>C (p.His39=) | dbSNP |
10 | g.49482849A>T | CA376724468 | ERCC6 | c.2007T>A (p.His669Gln) n.2085T>A c.1848T>A (p.His616Gln) c.*399T>A (n.*399T>A) c.117T>A (p.His39Gln) | |
10 | g.49482850T>A | CA376724470 | ERCC6 | c.2006A>T (p.His669Leu) n.2084A>T c.1847A>T (p.His616Leu) c.*398A>T (n.*398A>T) c.116A>T (p.His39Leu) | |
10 | g.49482850T>C | CA5495787 | ERCC6 | c.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 |
10 | g.49482850T>G | CA376724469 | ERCC6 | c.2006A>C (p.His669Pro) n.2084A>C c.1847A>C (p.His616Pro) c.*398A>C (n.*398A>C) c.116A>C (p.His39Pro) | |
10 | g.49482850T= | CA1908760572 | ERCC6 | c.2006A= (p.His669=) n.2084A= c.1847A= (p.His616=) c.*398A= (n.*398A=) c.116A= (p.His39=) | |
10 | g.49482851G>A | CA376724473 | ERCC6 | c.2005C>T (p.His669Tyr) n.2083C>T c.1846C>T (p.His616Tyr) c.*397C>T (n.*397C>T) c.115C>T (p.His39Tyr) | |
10 | g.49482851G>C | CA376724471 | ERCC6 | c.2005C>G (p.His669Asp) n.2083C>G c.1846C>G (p.His616Asp) c.*397C>G (n.*397C>G) c.115C>G (p.His39Asp) | |
10 | g.49482851G>T | CA376724472 | ERCC6 | c.2005C>A (p.His669Asn) n.2083C>A c.1846C>A (p.His616Asn) c.*397C>A (n.*397C>A) c.115C>A (p.His39Asn) | |
10 | g.49482852A>C | CA469604073 | ERCC6 | c.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 |
10 | g.49482852A>G | CA469604075 | ERCC6 | c.2004T>C (p.Pro668=) n.2082T>C c.1845T>C (p.Pro615=) c.*396T>C (n.*396T>C) c.114T>C (p.Pro38=) | |
10 | g.49482852A>T | CA469604074 | ERCC6 | c.2004T>A (p.Pro668=) n.2082T>A c.1845T>A (p.Pro615=) c.*396T>A (n.*396T>A) c.114T>A (p.Pro38=) | |
10 | g.49482853G>A | CA376724474 | ERCC6 | c.2003C>T (p.Pro668Leu) n.2081C>T c.1844C>T (p.Pro615Leu) c.*395C>T (n.*395C>T) c.113C>T (p.Pro38Leu) | |
10 | g.49482853G>C | CA376724475 | ERCC6 | c.2003C>G (p.Pro668Arg) n.2081C>G c.1844C>G (p.Pro615Arg) c.*395C>G (n.*395C>G) c.113C>G (p.Pro38Arg) | |
10 | g.49482853G>T | CA376724476 | ERCC6 | c.2003C>A (p.Pro668His) n.2081C>A c.1844C>A (p.Pro615His) c.*395C>A (n.*395C>A) c.113C>A (p.Pro38His) | |
10 | g.49482854G>A | CA376724477 | ERCC6 | c.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 |
10 | g.49482854G>C | CA376724478 | ERCC6 | c.2002C>G (p.Pro668Ala) n.2080C>G c.1843C>G (p.Pro615Ala) c.*394C>G (n.*394C>G) c.112C>G (p.Pro38Ala) | |
10 | g.49482854G>T | CA376724479 | ERCC6 | c.2002C>A (p.Pro668Thr) n.2080C>A c.1843C>A (p.Pro615Thr) c.*394C>A (n.*394C>A) c.112C>A (p.Pro38Thr) | |
10 | g.49482855G>A | CA5495788 | ERCC6 | c.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 |
10 | g.49482855G>C | CA469604077 | ERCC6 | c.2001C>G (p.Thr667=) n.2079C>G c.1842C>G (p.Thr614=) c.*393C>G (n.*393C>G) c.111C>G (p.Thr37=) | |
10 | g.49482855G= | CA1908760579 | ERCC6 | c.2001C= (p.Thr667=) n.2079C= c.1842C= (p.Thr614=) c.*393C= (n.*393C=) c.111C= (p.Thr37=) | |
10 | g.49482855G>T | CA469604076 | ERCC6 | c.2001C>A (p.Thr667=) n.2079C>A c.1842C>A (p.Thr614=) c.*393C>A (n.*393C>A) c.111C>A (p.Thr37=) | |
10 | g.49482856G>A | CA376724480 | ERCC6 | c.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 |
10 | g.49482856G>C | CA376724481 | ERCC6 | c.2000C>G (p.Thr667Ser) n.2078C>G c.1841C>G (p.Thr614Ser) c.*392C>G (n.*392C>G) c.110C>G (p.Thr37Ser) | dbSNP |
10 | g.49482856G= | CA1908760584 | ERCC6 | c.2000C= (p.Thr667=) n.2078C= c.1841C= (p.Thr614=) c.*392C= (n.*392C=) c.110C= (p.Thr37=) | |
10 | g.49482856G>T | CA376724482 | ERCC6 | c.2000C>A (p.Thr667Asn) n.2078C>A c.1841C>A (p.Thr614Asn) c.*392C>A (n.*392C>A) c.110C>A (p.Thr37Asn) | |
10 | g.49482856_49482857delinsGT | CA1908760583 | ERCC6 | c.1999_2000delinsAC (p.Thr667=) n.2077_2078delinsAC c.1840_1841delinsAC (p.Thr614=) c.*391_*392delinsAC (n.*391_*392delinsAC) c.109_110delinsAC (p.Thr37=) | |
10 | g.49482857del | CA274697 | ERCC6 | c.1999del (p.Thr667ProfsTer?) n.2077del c.1840del (p.Thr614ProfsTer?) c.*391del (n.*391del) c.109del (p.Thr37ProfsTer?) | ClinVar dbSNP |
10 | g.49482857T>A | CA376724485 | ERCC6 | c.1999A>T (p.Thr667Ser) n.2077A>T c.1840A>T (p.Thr614Ser) c.*391A>T (n.*391A>T) c.109A>T (p.Thr37Ser) | |
10 | g.49482857T>C | CA376724484 | ERCC6 | c.1999A>G (p.Thr667Ala) n.2077A>G c.1840A>G (p.Thr614Ala) c.*391A>G (n.*391A>G) c.109A>G (p.Thr37Ala) | |
10 | g.49482857T>G | CA376724483 | ERCC6 | c.1999A>C (p.Thr667Pro) n.2077A>C c.1840A>C (p.Thr614Pro) c.*391A>C (n.*391A>C) c.109A>C (p.Thr37Pro) | |
10 | g.49482858G>A | CA5495789 | ERCC6 | c.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 |
10 | g.49482858G>C | CA469604079 | ERCC6 | c.1998C>G (p.Arg666=) n.2076C>G c.1839C>G (p.Arg613=) c.*390C>G (n.*390C>G) c.108C>G (p.Arg36=) | |
10 | g.49482858G= | CA1908760600 | ERCC6 | c.1998C= (p.Arg666=) n.2076C= c.1839C= (p.Arg613=) c.*390C= (n.*390C=) c.108C= (p.Arg36=) | |
10 | g.49482858G>T | CA469604078 | ERCC6 | c.1998C>A (p.Arg666=) n.2076C>A c.1839C>A (p.Arg613=) c.*390C>A (n.*390C>A) c.108C>A (p.Arg36=) | |
10 | g.49482859C>A | CA376724486 | ERCC6 | c.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 |
10 | g.49482859C= | CA1908760609 | ERCC6 | c.1997G= (p.Arg666=) n.2075G= c.1838G= (p.Arg613=) c.*389G= (n.*389G=) c.107G= (p.Arg36=) | |
10 | g.49482859C>G | CA376724487 | ERCC6 | c.1997G>C (p.Arg666Pro) n.2075G>C c.1838G>C (p.Arg613Pro) c.*389G>C (n.*389G>C) c.107G>C (p.Arg36Pro) | |
10 | g.49482859C>T | CA5495790 | ERCC6 | c.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 |
10 | g.49482860G>A | CA199585 | ERCC6 | c.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 |
10 | g.49482860G>C | CA376724491 | ERCC6 | c.1996C>G (p.Arg666Gly) n.2074C>G c.1837C>G (p.Arg613Gly) c.*388C>G (n.*388C>G) c.106C>G (p.Arg36Gly) | |
10 | g.49482860G= | CA1908760621 | ERCC6 | c.1996C= (p.Arg666=) n.2074C= c.1837C= (p.Arg613=) c.*388C= (n.*388C=) c.106C= (p.Arg36=) | |
10 | g.49482860G>T | CA376724492 | ERCC6 | c.1996C>A (p.Arg666Ser) n.2074C>A c.1837C>A (p.Arg613Ser) c.*388C>A (n.*388C>A) c.106C>A (p.Arg36Ser) | |
10 | g.49482861A>C | CA376724495 | ERCC6 | c.1995T>G (p.Phe665Leu) n.2073T>G c.1836T>G (p.Phe612Leu) c.*387T>G (n.*387T>G) c.105T>G (p.Phe35Leu) | |
10 | g.49482861A>G | CA469604080 | ERCC6 | c.1995T>C (p.Phe665=) n.2073T>C c.1836T>C (p.Phe612=) c.*387T>C (n.*387T>C) c.105T>C (p.Phe35=) | |
10 | g.49482861A>T | CA376724499 | ERCC6 | c.1995T>A (p.Phe665Leu) n.2073T>A c.1836T>A (p.Phe612Leu) c.*387T>A (n.*387T>A) c.105T>A (p.Phe35Leu) | |
10 | g.49482862A>C | CA376724501 | ERCC6 | c.1994T>G (p.Phe665Cys) n.2072T>G c.1835T>G (p.Phe612Cys) c.*386T>G (n.*386T>G) c.104T>G (p.Phe35Cys) | |
10 | g.49482862A>G | CA376724503 | ERCC6 | c.1994T>C (p.Phe665Ser) n.2072T>C c.1835T>C (p.Phe612Ser) c.*386T>C (n.*386T>C) c.104T>C (p.Phe35Ser) | |
10 | g.49482862A>T | CA376724505 | ERCC6 | c.1994T>A (p.Phe665Tyr) n.2072T>A c.1835T>A (p.Phe612Tyr) c.*386T>A (n.*386T>A) c.104T>A (p.Phe35Tyr) | |
10 | g.49482863A= | CA1908760631 | ERCC6 | c.1993T= (p.Phe665=) n.2071T= c.1834T= (p.Phe612=) c.*385T= (n.*385T=) c.103T= (p.Phe35=) | |
10 | g.49482863A>C | CA376724508 | ERCC6 | c.1993T>G (p.Phe665Val) n.2071T>G c.1834T>G (p.Phe612Val) c.*385T>G (n.*385T>G) c.103T>G (p.Phe35Val) | |
10 | g.49482863A>G | CA5495791 | ERCC6 | c.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 |
10 | g.49482863A>T | CA376724507 | ERCC6 | c.1993T>A (p.Phe665Ile) n.2071T>A c.1834T>A (p.Phe612Ile) c.*385T>A (n.*385T>A) c.103T>A (p.Phe35Ile) | |
10 | g.49482864C>A | CA376724511 | ERCC6 | c.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) | |
10 | g.49482864C>G | CA376724516 | ERCC6 | c.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) | |
10 | g.49482864C>T | CA376724513 | ERCC6 | c.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) | |
10 | g.49482865T>A | CA376724518 | ERCC6 | c.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) | |
10 | g.49482865T>C | CA376724520 | ERCC6 | c.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) | |
10 | g.49482865T>G | CA376724521 | ERCC6 | c.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) | |
10 | g.49482866A= | CA1908760634 | ERCC6 | c.1993-3T= (n.1993-3T=) n.2071-3T= c.1834-3T= (n.1834-3T=) c.*385-3T= (n.*385-3T=) c.103-3T= (n.103-3T=) | |
10 | g.49482866A>G | CA593780615 | ERCC6 | c.1993-3T>C (n.1993-3T>C) n.2071-3T>C c.1834-3T>C (n.1834-3T>C) c.*385-3T>C (n.*385-3T>C) c.103-3T>C (n.103-3T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49482866A>T | CA593780614 | ERCC6 | c.1993-3T>A (n.1993-3T>A) n.2071-3T>A c.1834-3T>A (n.1834-3T>A) c.*385-3T>A (n.*385-3T>A) c.103-3T>A (n.103-3T>A) | dbSNP gnomAD v2 gnomAD v4 |