| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49482748A>C | CA376724255 | ERCC6 | c.2108T>G (p.Phe703Cys) n.2186T>G c.1949T>G (p.Phe650Cys) c.*500T>G (n.*500T>G) c.218T>G (p.Phe73Cys) | |
| 10 | g.49482748A>G | CA376724253 | ERCC6 | c.2108T>C (p.Phe703Ser) n.2186T>C c.1949T>C (p.Phe650Ser) c.*500T>C (n.*500T>C) c.218T>C (p.Phe73Ser) | |
| 10 | g.49482748A>T | CA376724254 | ERCC6 | c.2108T>A (p.Phe703Tyr) n.2186T>A c.1949T>A (p.Phe650Tyr) c.*500T>A (n.*500T>A) c.218T>A (p.Phe73Tyr) | |
| 10 | g.49482749A>C | CA376724256 | ERCC6 | c.2107T>G (p.Phe703Val) n.2185T>G c.1948T>G (p.Phe650Val) c.*499T>G (n.*499T>G) c.217T>G (p.Phe73Val) | |
| 10 | g.49482749A>G | CA376724257 | ERCC6 | c.2107T>C (p.Phe703Leu) n.2185T>C c.1948T>C (p.Phe650Leu) c.*499T>C (n.*499T>C) c.217T>C (p.Phe73Leu) | gnomAD v4 |
| 10 | g.49482749A>T | CA376724258 | ERCC6 | c.2107T>A (p.Phe703Ile) n.2185T>A c.1948T>A (p.Phe650Ile) c.*499T>A (n.*499T>A) c.217T>A (p.Phe73Ile) | |
| 10 | g.49482750del | CA2580081549 | ERCC6 | c.2106del (p.Phe703LeufsTer?) n.2184del c.1947del (p.Phe650LeufsTer?) c.*498del (n.*498del) c.216del (p.Phe73LeufsTer?) | ClinVar |
| 10 | g.49482750C>A | CA469604013 | ERCC6 | c.2106G>T (p.Val702=) n.2184G>T c.1947G>T (p.Val649=) c.*498G>T (n.*498G>T) c.216G>T (p.Val72=) | |
| 10 | g.49482750C= | CA1908760271 | ERCC6 | c.2106G= (p.Val702=) n.2184G= c.1947G= (p.Val649=) c.*498G= (n.*498G=) c.216G= (p.Val72=) | |
| 10 | g.49482750C>G | CA469604012 | ERCC6 | c.2106G>C (p.Val702=) n.2184G>C c.1947G>C (p.Val649=) c.*498G>C (n.*498G>C) c.216G>C (p.Val72=) | |
| 10 | g.49482750C>T | CA5495768 | ERCC6 | c.2106G>A (p.Val702=) n.2184G>A c.1947G>A (p.Val649=) c.*498G>A (n.*498G>A) c.216G>A (p.Val72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49482751A>C | CA376724259 | ERCC6 | c.2105T>G (p.Val702Gly) n.2183T>G c.1946T>G (p.Val649Gly) c.*497T>G (n.*497T>G) c.215T>G (p.Val72Gly) | |
| 10 | g.49482751A>G | CA376724260 | ERCC6 | c.2105T>C (p.Val702Ala) n.2183T>C c.1946T>C (p.Val649Ala) c.*497T>C (n.*497T>C) c.215T>C (p.Val72Ala) | |
| 10 | g.49482751A>T | CA376724261 | ERCC6 | c.2105T>A (p.Val702Glu) n.2183T>A c.1946T>A (p.Val649Glu) c.*497T>A (n.*497T>A) c.215T>A (p.Val72Glu) | |
| 10 | g.49482752C>A | CA376724262 | ERCC6 | c.2104G>T (p.Val702Leu) n.2182G>T c.1945G>T (p.Val649Leu) c.*496G>T (n.*496G>T) c.214G>T (p.Val72Leu) | |
| 10 | g.49482752C>G | CA376724263 | ERCC6 | c.2104G>C (p.Val702Leu) n.2182G>C c.1945G>C (p.Val649Leu) c.*496G>C (n.*496G>C) c.214G>C (p.Val72Leu) | gnomAD v4 |
| 10 | g.49482752C>T | CA376724264 | ERCC6 | c.2104G>A (p.Val702Met) n.2182G>A c.1945G>A (p.Val649Met) c.*496G>A (n.*496G>A) c.214G>A (p.Val72Met) | |
| 10 | g.49482753A>C | CA469604015 | ERCC6 | c.2103T>G (p.Pro701=) n.2181T>G c.1944T>G (p.Pro648=) c.*495T>G (n.*495T>G) c.213T>G (p.Pro71=) | |
| 10 | g.49482753A>G | CA469604016 | ERCC6 | c.2103T>C (p.Pro701=) n.2181T>C c.1944T>C (p.Pro648=) c.*495T>C (n.*495T>C) c.213T>C (p.Pro71=) | |
| 10 | g.49482753A>T | CA469604014 | ERCC6 | c.2103T>A (p.Pro701=) n.2181T>A c.1944T>A (p.Pro648=) c.*495T>A (n.*495T>A) c.213T>A (p.Pro71=) | |
| 10 | g.49482754G>A | CA376724265 | ERCC6 | c.2102C>T (p.Pro701Leu) n.2180C>T c.1943C>T (p.Pro648Leu) c.*494C>T (n.*494C>T) c.212C>T (p.Pro71Leu) | |
| 10 | g.49482754G>C | CA376724266 | ERCC6 | c.2102C>G (p.Pro701Arg) n.2180C>G c.1943C>G (p.Pro648Arg) c.*494C>G (n.*494C>G) c.212C>G (p.Pro71Arg) | |
| 10 | g.49482754G>T | CA376724267 | ERCC6 | c.2102C>A (p.Pro701His) n.2180C>A c.1943C>A (p.Pro648His) c.*494C>A (n.*494C>A) c.212C>A (p.Pro71His) | |
| 10 | g.49482755_49482762del | CA2609138826 | ERCC6 | c.2095_2102del (p.Thr699CysfsTer?) n.2173_2180del c.1936_1943del (p.Thr646CysfsTer?) c.*487_*494del (n.*487_*494del) c.205_212del (p.Thr69CysfsTer?) | gnomAD v4 |
| 10 | g.49482755G>A | CA376724269 | ERCC6 | c.2101C>T (p.Pro701Ser) n.2179C>T c.1942C>T (p.Pro648Ser) c.*493C>T (n.*493C>T) c.211C>T (p.Pro71Ser) | |
| 10 | g.49482755G>C | CA376724270 | ERCC6 | c.2101C>G (p.Pro701Ala) n.2179C>G c.1942C>G (p.Pro648Ala) c.*493C>G (n.*493C>G) c.211C>G (p.Pro71Ala) | |
| 10 | g.49482755G>T | CA376724268 | ERCC6 | c.2101C>A (p.Pro701Thr) n.2179C>A c.1942C>A (p.Pro648Thr) c.*493C>A (n.*493C>A) c.211C>A (p.Pro71Thr) | |
| 10 | g.49482756C>A | CA376724271 | ERCC6 | c.2100G>T (p.Leu700Phe) n.2178G>T c.1941G>T (p.Leu647Phe) c.*492G>T (n.*492G>T) c.210G>T (p.Leu70Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49482756C= | CA1908760274 | ERCC6 | c.2100G= (p.Leu700=) n.2178G= c.1941G= (p.Leu647=) c.*492G= (n.*492G=) c.210G= (p.Leu70=) | |
| 10 | g.49482756C>G | CA376724272 | ERCC6 | c.2100G>C (p.Leu700Phe) n.2178G>C c.1941G>C (p.Leu647Phe) c.*492G>C (n.*492G>C) c.210G>C (p.Leu70Phe) | |
| 10 | g.49482756C>T | CA469604017 | ERCC6 | c.2100G>A (p.Leu700=) n.2178G>A c.1941G>A (p.Leu647=) c.*492G>A (n.*492G>A) c.210G>A (p.Leu70=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49482757A>C | CA376724273 | ERCC6 | c.2099T>G (p.Leu700Trp) n.2177T>G c.1940T>G (p.Leu647Trp) c.*491T>G (n.*491T>G) c.209T>G (p.Leu70Trp) | |
| 10 | g.49482757A>G | CA376724274 | ERCC6 | c.2099T>C (p.Leu700Ser) n.2177T>C c.1940T>C (p.Leu647Ser) c.*491T>C (n.*491T>C) c.209T>C (p.Leu70Ser) | COSMIC |
| 10 | g.49482757A>T | CA376724275 | ERCC6 | c.2099T>A (p.Leu700Ter) n.2177T>A c.1940T>A (p.Leu647Ter) c.*491T>A (n.*491T>A) c.209T>A (p.Leu70Ter) | |
| 10 | g.49482758A>C | CA376724276 | ERCC6 | c.2098T>G (p.Leu700Val) n.2176T>G c.1939T>G (p.Leu647Val) c.*490T>G (n.*490T>G) c.208T>G (p.Leu70Val) | |
| 10 | g.49482758A>G | CA469604018 | ERCC6 | c.2098T>C (p.Leu700=) n.2176T>C c.1939T>C (p.Leu647=) c.*490T>C (n.*490T>C) c.208T>C (p.Leu70=) | |
| 10 | g.49482758A>T | CA376724277 | ERCC6 | c.2098T>A (p.Leu700Met) n.2176T>A c.1939T>A (p.Leu647Met) c.*490T>A (n.*490T>A) c.208T>A (p.Leu70Met) | |
| 10 | g.49482759C>A | CA469604019 | ERCC6 | c.2097G>T (p.Thr699=) n.2175G>T c.1938G>T (p.Thr646=) c.*489G>T (n.*489G>T) c.207G>T (p.Thr69=) | |
| 10 | g.49482759C= | CA1908760284 | ERCC6 | c.2097G= (p.Thr699=) n.2175G= c.1938G= (p.Thr646=) c.*489G= (n.*489G=) c.207G= (p.Thr69=) | |
| 10 | g.49482759C>G | CA206595739 | ERCC6 | c.2097G>C (p.Thr699=) n.2175G>C c.1938G>C (p.Thr646=) c.*489G>C (n.*489G>C) c.207G>C (p.Thr69=) | dbSNP |
| 10 | g.49482759C>T | CA5495769 | ERCC6 | c.2097G>A (p.Thr699=) n.2175G>A c.1938G>A (p.Thr646=) c.*489G>A (n.*489G>A) c.207G>A (p.Thr69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49482760G>A | CA5495770 | ERCC6 | c.2096C>T (p.Thr699Met) n.2174C>T c.1937C>T (p.Thr646Met) c.*488C>T (n.*488C>T) c.206C>T (p.Thr69Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49482760G>C | CA376724278 | ERCC6 | c.2096C>G (p.Thr699Arg) n.2174C>G c.1937C>G (p.Thr646Arg) c.*488C>G (n.*488C>G) c.206C>G (p.Thr69Arg) | |
| 10 | g.49482760G= | CA1908760296 | ERCC6 | c.2096C= (p.Thr699=) n.2174C= c.1937C= (p.Thr646=) c.*488C= (n.*488C=) c.206C= (p.Thr69=) | |
| 10 | g.49482760G>T | CA376724279 | ERCC6 | c.2096C>A (p.Thr699Lys) n.2174C>A c.1937C>A (p.Thr646Lys) c.*488C>A (n.*488C>A) c.206C>A (p.Thr69Lys) | gnomAD v4 |
| 10 | g.49482760dup | CA274700 | ERCC6 | c.2096dup (p.Leu700ValfsTer?) n.2174dup c.1937dup (p.Leu647ValfsTer?) c.*488dup (n.*488dup) c.206dup (p.Leu70ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49482761T>A | CA376724282 | ERCC6 | c.2095A>T (p.Thr699Ser) n.2173A>T c.1936A>T (p.Thr646Ser) c.*487A>T (n.*487A>T) c.205A>T (p.Thr69Ser) | |
| 10 | g.49482761T>C | CA376724281 | ERCC6 | c.2095A>G (p.Thr699Ala) n.2173A>G c.1936A>G (p.Thr646Ala) c.*487A>G (n.*487A>G) c.205A>G (p.Thr69Ala) | dbSNP |
| 10 | g.49482761T>G | CA376724280 | ERCC6 | c.2095A>C (p.Thr699Pro) n.2173A>C c.1936A>C (p.Thr646Pro) c.*487A>C (n.*487A>C) c.205A>C (p.Thr69Pro) | |
| 10 | g.49482761T= | CA1908760304 | ERCC6 | c.2095A= (p.Thr699=) n.2173A= c.1936A= (p.Thr646=) c.*487A= (n.*487A=) c.205A= (p.Thr69=) |