| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49482755_49482762del | CA2609138826 | ERCC6 | c.2095_2102del (p.Thr699CysfsTer?) n.2173_2180del c.1936_1943del (p.Thr646CysfsTer?) c.*487_*494del (n.*487_*494del) c.205_212del (p.Thr69CysfsTer?) | gnomAD v4 |
| 10 | g.49482761T>A | CA376724282 | ERCC6 | c.2095A>T (p.Thr699Ser) n.2173A>T c.1936A>T (p.Thr646Ser) c.*487A>T (n.*487A>T) c.205A>T (p.Thr69Ser) | |
| 10 | g.49482761T>C | CA376724281 | ERCC6 | c.2095A>G (p.Thr699Ala) n.2173A>G c.1936A>G (p.Thr646Ala) c.*487A>G (n.*487A>G) c.205A>G (p.Thr69Ala) | dbSNP |
| 10 | g.49482761T>G | CA376724280 | ERCC6 | c.2095A>C (p.Thr699Pro) n.2173A>C c.1936A>C (p.Thr646Pro) c.*487A>C (n.*487A>C) c.205A>C (p.Thr69Pro) | |
| 10 | g.49482761T= | CA1908760304 | ERCC6 | c.2095A= (p.Thr699=) n.2173A= c.1936A= (p.Thr646=) c.*487A= (n.*487A=) c.205A= (p.Thr69=) | |
| 10 | g.49482762G>A | CA469604021 | ERCC6 | c.2094C>T (p.Gly698=) n.2172C>T c.1935C>T (p.Gly645=) c.*486C>T (n.*486C>T) c.204C>T (p.Gly68=) | |
| 10 | g.49482762G>C | CA469604022 | ERCC6 | c.2094C>G (p.Gly698=) n.2172C>G c.1935C>G (p.Gly645=) c.*486C>G (n.*486C>G) c.204C>G (p.Gly68=) | |
| 10 | g.49482762G= | CA1908760309 | ERCC6 | c.2094C= (p.Gly698=) n.2172C= c.1935C= (p.Gly645=) c.*486C= (n.*486C=) c.204C= (p.Gly68=) | |
| 10 | g.49482762G>T | CA469604020 | ERCC6 | c.2094C>A (p.Gly698=) n.2172C>A c.1935C>A (p.Gly645=) c.*486C>A (n.*486C>A) c.204C>A (p.Gly68=) | ClinVar |
| 10 | g.49482763C>A | CA376724283 | ERCC6 | c.2093G>T (p.Gly698Val) n.2171G>T c.1934G>T (p.Gly645Val) c.*485G>T (n.*485G>T) c.203G>T (p.Gly68Val) | |
| 10 | g.49482763C>G | CA376724284 | ERCC6 | c.2093G>C (p.Gly698Ala) n.2171G>C c.1934G>C (p.Gly645Ala) c.*485G>C (n.*485G>C) c.203G>C (p.Gly68Ala) | |
| 10 | g.49482763C>T | CA376724285 | ERCC6 | c.2093G>A (p.Gly698Asp) n.2171G>A c.1934G>A (p.Gly645Asp) c.*485G>A (n.*485G>A) c.203G>A (p.Gly68Asp) | ClinVar |
| 10 | g.49482764dup | CA593780673 | ERCC6 | c.2093dup (p.Thr699HisfsTer?) n.2171dup c.1934dup (p.Thr646HisfsTer?) c.*485dup (n.*485dup) c.203dup (p.Thr69HisfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49482764C>A | CA376724286 | ERCC6 | c.2092G>T (p.Gly698Cys) n.2170G>T c.1933G>T (p.Gly645Cys) c.*484G>T (n.*484G>T) c.202G>T (p.Gly68Cys) | |
| 10 | g.49482764C>G | CA376724287 | ERCC6 | c.2092G>C (p.Gly698Arg) n.2170G>C c.1933G>C (p.Gly645Arg) c.*484G>C (n.*484G>C) c.202G>C (p.Gly68Arg) | |
| 10 | g.49482764C>T | CA376724288 | ERCC6 | c.2092G>A (p.Gly698Ser) n.2170G>A c.1933G>A (p.Gly645Ser) c.*484G>A (n.*484G>A) c.202G>A (p.Gly68Ser) | |
| 10 | g.49482765T>A | CA376724289 | ERCC6 | c.2091A>T (p.Leu697Phe) n.2169A>T c.1932A>T (p.Leu644Phe) c.*483A>T (n.*483A>T) c.201A>T (p.Leu67Phe) | COSMIC |
| 10 | g.49482765T>C | CA469604023 | ERCC6 | c.2091A>G (p.Leu697=) n.2169A>G c.1932A>G (p.Leu644=) c.*483A>G (n.*483A>G) c.201A>G (p.Leu67=) | |
| 10 | g.49482765T>G | CA376724290 | ERCC6 | c.2091A>C (p.Leu697Phe) n.2169A>C c.1932A>C (p.Leu644Phe) c.*483A>C (n.*483A>C) c.201A>C (p.Leu67Phe) | |
| 10 | g.49482766A>C | CA376724291 | ERCC6 | c.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 |
| 10 | g.49482766A>G | CA376724292 | ERCC6 | c.2090T>C (p.Leu697Ser) n.2168T>C c.1931T>C (p.Leu644Ser) c.*482T>C (n.*482T>C) c.200T>C (p.Leu67Ser) | |
| 10 | g.49482766A>T | CA376724293 | ERCC6 | c.2090T>A (p.Leu697Ter) n.2168T>A c.1931T>A (p.Leu644Ter) c.*482T>A (n.*482T>A) c.200T>A (p.Leu67Ter) | |
| 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 |