UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49482754G>A | CA376724265 | ERCC6 | c.2102C>T (p.Pro701Leu) n.2180C>T c.1943C>T (p.Pro648Leu) c.*494C>T (n.*494C>T) c.212C>T (p.Pro71Leu) | |
| 10 | g.49482754G>C | CA376724266 | ERCC6 | c.2102C>G (p.Pro701Arg) n.2180C>G c.1943C>G (p.Pro648Arg) c.*494C>G (n.*494C>G) c.212C>G (p.Pro71Arg) | |
| 10 | g.49482754G>T | CA376724267 | ERCC6 | c.2102C>A (p.Pro701His) n.2180C>A c.1943C>A (p.Pro648His) c.*494C>A (n.*494C>A) c.212C>A (p.Pro71His) | |
| 10 | g.49482755_49482762del | CA2609138826 | ERCC6 | c.2095_2102del (p.Thr699CysfsTer?) n.2173_2180del c.1936_1943del (p.Thr646CysfsTer?) c.*487_*494del (n.*487_*494del) c.205_212del (p.Thr69CysfsTer?) | gnomAD v4 |
| 10 | g.49482755G>A | CA376724269 | ERCC6 | c.2101C>T (p.Pro701Ser) n.2179C>T c.1942C>T (p.Pro648Ser) c.*493C>T (n.*493C>T) c.211C>T (p.Pro71Ser) | |
| 10 | g.49482755G>C | CA376724270 | ERCC6 | c.2101C>G (p.Pro701Ala) n.2179C>G c.1942C>G (p.Pro648Ala) c.*493C>G (n.*493C>G) c.211C>G (p.Pro71Ala) | |
| 10 | g.49482755G>T | CA376724268 | ERCC6 | c.2101C>A (p.Pro701Thr) n.2179C>A c.1942C>A (p.Pro648Thr) c.*493C>A (n.*493C>A) c.211C>A (p.Pro71Thr) | |
| 10 | g.49482756C>A | CA376724271 | ERCC6 | c.2100G>T (p.Leu700Phe) n.2178G>T c.1941G>T (p.Leu647Phe) c.*492G>T (n.*492G>T) c.210G>T (p.Leu70Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49482756C= | CA1908760274 | ERCC6 | c.2100G= (p.Leu700=) n.2178G= c.1941G= (p.Leu647=) c.*492G= (n.*492G=) c.210G= (p.Leu70=) | |
| 10 | g.49482756C>G | CA376724272 | ERCC6 | c.2100G>C (p.Leu700Phe) n.2178G>C c.1941G>C (p.Leu647Phe) c.*492G>C (n.*492G>C) c.210G>C (p.Leu70Phe) | |
| 10 | g.49482756C>T | CA469604017 | ERCC6 | c.2100G>A (p.Leu700=) n.2178G>A c.1941G>A (p.Leu647=) c.*492G>A (n.*492G>A) c.210G>A (p.Leu70=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49482757A>C | CA376724273 | ERCC6 | c.2099T>G (p.Leu700Trp) n.2177T>G c.1940T>G (p.Leu647Trp) c.*491T>G (n.*491T>G) c.209T>G (p.Leu70Trp) | |
| 10 | g.49482757A>G | CA376724274 | ERCC6 | c.2099T>C (p.Leu700Ser) n.2177T>C c.1940T>C (p.Leu647Ser) c.*491T>C (n.*491T>C) c.209T>C (p.Leu70Ser) | COSMIC |
| 10 | g.49482757A>T | CA376724275 | ERCC6 | c.2099T>A (p.Leu700Ter) n.2177T>A c.1940T>A (p.Leu647Ter) c.*491T>A (n.*491T>A) c.209T>A (p.Leu70Ter) | |
| 10 | g.49482758A>C | CA376724276 | ERCC6 | c.2098T>G (p.Leu700Val) n.2176T>G c.1939T>G (p.Leu647Val) c.*490T>G (n.*490T>G) c.208T>G (p.Leu70Val) | |
| 10 | g.49482758A>G | CA469604018 | ERCC6 | c.2098T>C (p.Leu700=) n.2176T>C c.1939T>C (p.Leu647=) c.*490T>C (n.*490T>C) c.208T>C (p.Leu70=) | |
| 10 | g.49482758A>T | CA376724277 | ERCC6 | c.2098T>A (p.Leu700Met) n.2176T>A c.1939T>A (p.Leu647Met) c.*490T>A (n.*490T>A) c.208T>A (p.Leu70Met) | |
| 10 | g.49482759C>A | CA469604019 | ERCC6 | c.2097G>T (p.Thr699=) n.2175G>T c.1938G>T (p.Thr646=) c.*489G>T (n.*489G>T) c.207G>T (p.Thr69=) | |
| 10 | g.49482759C= | CA1908760284 | ERCC6 | c.2097G= (p.Thr699=) n.2175G= c.1938G= (p.Thr646=) c.*489G= (n.*489G=) c.207G= (p.Thr69=) | |
| 10 | g.49482759C>G | CA206595739 | ERCC6 | c.2097G>C (p.Thr699=) n.2175G>C c.1938G>C (p.Thr646=) c.*489G>C (n.*489G>C) c.207G>C (p.Thr69=) | dbSNP |
| 10 | g.49482759C>T | CA5495769 | ERCC6 | c.2097G>A (p.Thr699=) n.2175G>A c.1938G>A (p.Thr646=) c.*489G>A (n.*489G>A) c.207G>A (p.Thr69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49482760G>A | CA5495770 | ERCC6 | c.2096C>T (p.Thr699Met) n.2174C>T c.1937C>T (p.Thr646Met) c.*488C>T (n.*488C>T) c.206C>T (p.Thr69Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49482760G>C | CA376724278 | ERCC6 | c.2096C>G (p.Thr699Arg) n.2174C>G c.1937C>G (p.Thr646Arg) c.*488C>G (n.*488C>G) c.206C>G (p.Thr69Arg) | |
| 10 | g.49482760G= | CA1908760296 | ERCC6 | c.2096C= (p.Thr699=) n.2174C= c.1937C= (p.Thr646=) c.*488C= (n.*488C=) c.206C= (p.Thr69=) | |
| 10 | g.49482760G>T | CA376724279 | ERCC6 | c.2096C>A (p.Thr699Lys) n.2174C>A c.1937C>A (p.Thr646Lys) c.*488C>A (n.*488C>A) c.206C>A (p.Thr69Lys) | gnomAD v4 |
| 10 | g.49482760dup | CA274700 | ERCC6 | c.2096dup (p.Leu700ValfsTer?) n.2174dup c.1937dup (p.Leu647ValfsTer?) c.*488dup (n.*488dup) c.206dup (p.Leu70ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49482761T>A | CA376724282 | ERCC6 | c.2095A>T (p.Thr699Ser) n.2173A>T c.1936A>T (p.Thr646Ser) c.*487A>T (n.*487A>T) c.205A>T (p.Thr69Ser) | |
| 10 | g.49482761T>C | CA376724281 | ERCC6 | c.2095A>G (p.Thr699Ala) n.2173A>G c.1936A>G (p.Thr646Ala) c.*487A>G (n.*487A>G) c.205A>G (p.Thr69Ala) | dbSNP |
| 10 | g.49482761T>G | CA376724280 | ERCC6 | c.2095A>C (p.Thr699Pro) n.2173A>C c.1936A>C (p.Thr646Pro) c.*487A>C (n.*487A>C) c.205A>C (p.Thr69Pro) | |
| 10 | g.49482761T= | CA1908760304 | ERCC6 | c.2095A= (p.Thr699=) n.2173A= c.1936A= (p.Thr646=) c.*487A= (n.*487A=) c.205A= (p.Thr69=) | |
| 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) |