Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.94435864_94435867delinsGTCT | CA1992426132 | MRE11 | c.1959_1962delinsAGAC (p.Glu653=) c.1875_1878delinsAGAC (p.Glu625=) c.1956_1959delinsAGAC (p.Glu652=) c.1968_1971delinsAGAC (p.Glu656=) c.1491_1494delinsAGAC (p.Glu497=) n.2255_2258delinsAGAC | |
11 | g.94435870_94435872del | CA1992426134 | MRE11 | c.1959_1961del (p.Glu653del) c.1875_1877del (p.Glu625del) c.1956_1958del (p.Glu652del) c.1968_1970del (p.Glu656del) c.1491_1493del (p.Glu497del) n.2255_2257del | dbSNP |
11 | g.94435867T>A | CA382374090 | MRE11 | c.1959A>T (p.Glu653Asp) c.1875A>T (p.Glu625Asp) c.1956A>T (p.Glu652Asp) c.1968A>T (p.Glu656Asp) c.1491A>T (p.Glu497Asp) n.2255A>T | |
11 | g.94435867T>C | CA476287131 | MRE11 | c.1959A>G (p.Glu653=) c.1875A>G (p.Glu625=) c.1956A>G (p.Glu652=) c.1968A>G (p.Glu656=) c.1491A>G (p.Glu497=) n.2255A>G | |
11 | g.94435867T>G | CA382374091 | MRE11 | c.1959A>C (p.Glu653Asp) c.1875A>C (p.Glu625Asp) c.1956A>C (p.Glu652Asp) c.1968A>C (p.Glu656Asp) c.1491A>C (p.Glu497Asp) n.2255A>C | |
11 | g.94435868T>A | CA382374092 | MRE11 | c.1958A>T (p.Glu653Val) c.1874A>T (p.Glu625Val) c.1955A>T (p.Glu652Val) c.1967A>T (p.Glu656Val) c.1490A>T (p.Glu497Val) n.2254A>T | |
11 | g.94435868T>C | CA382374093 | MRE11 | c.1958A>G (p.Glu653Gly) c.1874A>G (p.Glu625Gly) c.1955A>G (p.Glu652Gly) c.1967A>G (p.Glu656Gly) c.1490A>G (p.Glu497Gly) n.2254A>G | |
11 | g.94435868T>G | CA382374094 | MRE11 | c.1958A>C (p.Glu653Ala) c.1874A>C (p.Glu625Ala) c.1955A>C (p.Glu652Ala) c.1967A>C (p.Glu656Ala) c.1490A>C (p.Glu497Ala) n.2254A>C | |
11 | g.94435869C>A | CA382374095 | MRE11 | c.1957G>T (p.Glu653Ter) c.1873G>T (p.Glu625Ter) c.1954G>T (p.Glu652Ter) c.1966G>T (p.Glu656Ter) c.1489G>T (p.Glu497Ter) n.2253G>T | ClinVar |
11 | g.94435869C>G | CA382374096 | MRE11 | c.1957G>C (p.Glu653Gln) c.1873G>C (p.Glu625Gln) c.1954G>C (p.Glu652Gln) c.1966G>C (p.Glu656Gln) c.1489G>C (p.Glu497Gln) n.2253G>C | |
11 | g.94435869C>T | CA382374097 | MRE11 | c.1957G>A (p.Glu653Lys) c.1873G>A (p.Glu625Lys) c.1954G>A (p.Glu652Lys) c.1966G>A (p.Glu656Lys) c.1489G>A (p.Glu497Lys) n.2253G>A | |
11 | g.94435870T>A | CA382374098 | MRE11 | c.1956A>T (p.Glu652Asp) c.1872A>T (p.Glu624Asp) c.1953A>T (p.Glu651Asp) c.1965A>T (p.Glu655Asp) c.1488A>T (p.Glu496Asp) n.2252A>T | |
11 | g.94435870T>C | CA476287134 | MRE11 | c.1956A>G (p.Glu652=) c.1872A>G (p.Glu624=) c.1953A>G (p.Glu651=) c.1965A>G (p.Glu655=) c.1488A>G (p.Glu496=) n.2252A>G | ClinVar dbSNP |
11 | g.94435870T>G | CA382374099 | MRE11 | c.1956A>C (p.Glu652Asp) c.1872A>C (p.Glu624Asp) c.1953A>C (p.Glu651Asp) c.1965A>C (p.Glu655Asp) c.1488A>C (p.Glu496Asp) n.2252A>C | |
11 | g.94435870T= | CA1992426148 | MRE11 | c.1956A= (p.Glu652=) c.1872A= (p.Glu624=) c.1953A= (p.Glu651=) c.1965A= (p.Glu655=) c.1488A= (p.Glu496=) n.2252A= | |
11 | g.94435871T>A | CA382374102 | MRE11 | c.1955A>T (p.Glu652Val) c.1871A>T (p.Glu624Val) c.1952A>T (p.Glu651Val) c.1964A>T (p.Glu655Val) c.1487A>T (p.Glu496Val) n.2251A>T | |
11 | g.94435871T>C | CA382374101 | MRE11 | c.1955A>G (p.Glu652Gly) c.1871A>G (p.Glu624Gly) c.1952A>G (p.Glu651Gly) c.1964A>G (p.Glu655Gly) c.1487A>G (p.Glu496Gly) n.2251A>G | |
11 | g.94435871T>G | CA382374100 | MRE11 | c.1955A>C (p.Glu652Ala) c.1871A>C (p.Glu624Ala) c.1952A>C (p.Glu651Ala) c.1964A>C (p.Glu655Ala) c.1487A>C (p.Glu496Ala) n.2251A>C | |
11 | g.94435871_94435872delinsTC | CA1992426151 | MRE11 | c.1954_1955delinsGA (p.Glu652=) c.1870_1871delinsGA (p.Glu624=) c.1951_1952delinsGA (p.Glu651=) c.1963_1964delinsGA (p.Glu655=) c.1486_1487delinsGA (p.Glu496=) n.2250_2251delinsGA | |
11 | g.94435872C>A | CA382374103 | MRE11 | c.1954G>T (p.Glu652Ter) c.1870G>T (p.Glu624Ter) c.1951G>T (p.Glu651Ter) c.1963G>T (p.Glu655Ter) c.1486G>T (p.Glu496Ter) n.2250G>T | COSMIC COSMIC |
11 | g.94435872C>G | CA382374104 | MRE11 | c.1954G>C (p.Glu652Gln) c.1870G>C (p.Glu624Gln) c.1951G>C (p.Glu651Gln) c.1963G>C (p.Glu655Gln) c.1486G>C (p.Glu496Gln) n.2250G>C | |
11 | g.94435872C>T | CA382374105 | MRE11 | c.1954G>A (p.Glu652Lys) c.1870G>A (p.Glu624Lys) c.1951G>A (p.Glu651Lys) c.1963G>A (p.Glu655Lys) c.1486G>A (p.Glu496Lys) n.2250G>A | gnomAD v4 COSMIC COSMIC |
11 | g.94435873del | CA682015902 | MRE11 | c.1954del (p.Glu652LysfsTer?) c.1870del (p.Glu624LysfsTer?) c.1951del (p.Glu651LysfsTer?) c.1963del (p.Glu655LysfsTer?) c.1486del (p.Glu496LysfsTer?) n.2250del | dbSNP |
11 | g.94435873C>A | CA476287138 | MRE11 | c.1953G>T (p.Val651=) c.1869G>T (p.Val623=) c.1950G>T (p.Val650=) c.1962G>T (p.Val654=) c.1485G>T (p.Val495=) n.2249G>T | |
11 | g.94435873C>G | CA476287139 | MRE11 | c.1953G>C (p.Val651=) c.1869G>C (p.Val623=) c.1950G>C (p.Val650=) c.1962G>C (p.Val654=) c.1485G>C (p.Val495=) n.2249G>C | |
11 | g.94435873C>T | CA476287140 | MRE11 | c.1953G>A (p.Val651=) c.1869G>A (p.Val623=) c.1950G>A (p.Val650=) c.1962G>A (p.Val654=) c.1485G>A (p.Val495=) n.2249G>A | ClinVar dbSNP |
11 | g.94435874A= | CA1992426155 | MRE11 | c.1952T= (p.Val651=) c.1868T= (p.Val623=) c.1949T= (p.Val650=) c.1961T= (p.Val654=) c.1484T= (p.Val495=) n.2248T= | |
11 | g.94435874A>C | CA382374106 | MRE11 | c.1952T>G (p.Val651Gly) c.1868T>G (p.Val623Gly) c.1949T>G (p.Val650Gly) c.1961T>G (p.Val654Gly) c.1484T>G (p.Val495Gly) n.2248T>G | |
11 | g.94435874A>G | CA382374107 | MRE11 | c.1952T>C (p.Val651Ala) c.1868T>C (p.Val623Ala) c.1949T>C (p.Val650Ala) c.1961T>C (p.Val654Ala) c.1484T>C (p.Val495Ala) n.2248T>C | |
11 | g.94435874A>T | CA10579359 | MRE11 | c.1952T>A (p.Val651Glu) c.1868T>A (p.Val623Glu) c.1949T>A (p.Val650Glu) c.1961T>A (p.Val654Glu) c.1484T>A (p.Val495Glu) n.2248T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.94435875C>A | CA382374110 | MRE11 | c.1951G>T (p.Val651Leu) c.1867G>T (p.Val623Leu) c.1948G>T (p.Val650Leu) c.1960G>T (p.Val654Leu) c.1483G>T (p.Val495Leu) n.2247G>T | |
11 | g.94435875C= | CA1992426158 | MRE11 | c.1951G= (p.Val651=) c.1867G= (p.Val623=) c.1948G= (p.Val650=) c.1960G= (p.Val654=) c.1483G= (p.Val495=) n.2247G= | |
11 | g.94435875C>G | CA382374108 | MRE11 | c.1951G>C (p.Val651Leu) c.1867G>C (p.Val623Leu) c.1948G>C (p.Val650Leu) c.1960G>C (p.Val654Leu) c.1483G>C (p.Val495Leu) n.2247G>C | |
11 | g.94435875C>T | CA382374109 | MRE11 | c.1951G>A (p.Val651Met) c.1867G>A (p.Val623Met) c.1948G>A (p.Val650Met) c.1960G>A (p.Val654Met) c.1483G>A (p.Val495Met) n.2247G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.94435876A>C | CA382374111 | MRE11 | c.1950T>G (p.Asp650Glu) c.1866T>G (p.Asp622Glu) c.1947T>G (p.Asp649Glu) c.1959T>G (p.Asp653Glu) c.1482T>G (p.Asp494Glu) n.2246T>G | |
11 | g.94435876A>G | CA476287143 | MRE11 | c.1950T>C (p.Asp650=) c.1866T>C (p.Asp622=) c.1947T>C (p.Asp649=) c.1959T>C (p.Asp653=) c.1482T>C (p.Asp494=) n.2246T>C | ClinVar |
11 | g.94435876A>T | CA382374112 | MRE11 | c.1950T>A (p.Asp650Glu) c.1866T>A (p.Asp622Glu) c.1947T>A (p.Asp649Glu) c.1959T>A (p.Asp653Glu) c.1482T>A (p.Asp494Glu) n.2246T>A | |
11 | g.94435877T>A | CA382374113 | MRE11 | c.1949A>T (p.Asp650Val) c.1865A>T (p.Asp622Val) c.1946A>T (p.Asp649Val) c.1958A>T (p.Asp653Val) c.1481A>T (p.Asp494Val) n.2245A>T | |
11 | g.94435877T>C | CA382374114 | MRE11 | c.1949A>G (p.Asp650Gly) c.1865A>G (p.Asp622Gly) c.1946A>G (p.Asp649Gly) c.1958A>G (p.Asp653Gly) c.1481A>G (p.Asp494Gly) n.2245A>G | |
11 | g.94435877T>G | CA382374115 | MRE11 | c.1949A>C (p.Asp650Ala) c.1865A>C (p.Asp622Ala) c.1946A>C (p.Asp649Ala) c.1958A>C (p.Asp653Ala) c.1481A>C (p.Asp494Ala) n.2245A>C | gnomAD v4 |
11 | g.94435878C>A | CA382374116 | MRE11 | c.1948G>T (p.Asp650Tyr) c.1864G>T (p.Asp622Tyr) c.1945G>T (p.Asp649Tyr) c.1957G>T (p.Asp653Tyr) c.1480G>T (p.Asp494Tyr) n.2244G>T | |
11 | g.94435878C= | CA1992426161 | MRE11 | c.1948G= (p.Asp650=) c.1864G= (p.Asp622=) c.1945G= (p.Asp649=) c.1957G= (p.Asp653=) c.1480G= (p.Asp494=) n.2244G= | |
11 | g.94435878C>G | CA382374118 | MRE11 | c.1948G>C (p.Asp650His) c.1864G>C (p.Asp622His) c.1945G>C (p.Asp649His) c.1957G>C (p.Asp653His) c.1480G>C (p.Asp494His) n.2244G>C | ClinVar dbSNP gnomAD v4 |
11 | g.94435878C>T | CA382374117 | MRE11 | c.1948G>A (p.Asp650Asn) c.1864G>A (p.Asp622Asn) c.1945G>A (p.Asp649Asn) c.1957G>A (p.Asp653Asn) c.1480G>A (p.Asp494Asn) n.2244G>A | |
11 | g.94435879T>A | CA476287144 | MRE11 | c.1947A>T (p.Ser649=) c.1863A>T (p.Ser621=) c.1944A>T (p.Ser648=) c.1956A>T (p.Ser652=) c.1479A>T (p.Ser493=) n.2243A>T | |
11 | g.94435879T>C | CA476287145 | MRE11 | c.1947A>G (p.Ser649=) c.1863A>G (p.Ser621=) c.1944A>G (p.Ser648=) c.1956A>G (p.Ser652=) c.1479A>G (p.Ser493=) n.2243A>G | |
11 | g.94435879T>G | CA476287146 | MRE11 | c.1947A>C (p.Ser649=) c.1863A>C (p.Ser621=) c.1944A>C (p.Ser648=) c.1956A>C (p.Ser652=) c.1479A>C (p.Ser493=) n.2243A>C | |
11 | g.94435880G>A | CA382374119 | MRE11 | c.1946C>T (p.Ser649Leu) c.1862C>T (p.Ser621Leu) c.1943C>T (p.Ser648Leu) c.1955C>T (p.Ser652Leu) c.1478C>T (p.Ser493Leu) n.2242C>T | ClinVar dbSNP gnomAD v4 |
11 | g.94435880G>C | CA382374120 | MRE11 | c.1946C>G (p.Ser649Ter) c.1862C>G (p.Ser621Ter) c.1943C>G (p.Ser648Ter) c.1955C>G (p.Ser652Ter) c.1478C>G (p.Ser493Ter) n.2242C>G | |
11 | g.94435880G= | CA1992426164 | MRE11 | c.1946C= (p.Ser649=) c.1862C= (p.Ser621=) c.1943C= (p.Ser648=) c.1955C= (p.Ser652=) c.1478C= (p.Ser493=) n.2242C= |