| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39013524G>A | CA425730895 | SOS1 | c.870C>T (p.Phe290=) n.2324C>T n.2110C>T n.192C>T c.1992C>T (p.Phe664=) c.2103C>T (p.Phe701=) c.2196C>T (p.Phe732=) c.2082C>T (p.Phe694=) c.2079C>T (p.Phe693=) c.1932C>T (p.Phe644=) c.1038C>T (p.Phe346=) | |
| 2 | g.39013524G>C | CA346364641 | SOS1 | c.870C>G (p.Phe290Leu) n.2324C>G n.2110C>G n.192C>G c.1992C>G (p.Phe664Leu) c.2103C>G (p.Phe701Leu) c.2196C>G (p.Phe732Leu) c.2082C>G (p.Phe694Leu) c.2079C>G (p.Phe693Leu) c.1932C>G (p.Phe644Leu) c.1038C>G (p.Phe346Leu) | ClinVar dbSNP |
| 2 | g.39013524G= | CA3090197930 | SOS1 | c.870C= (p.Phe290=) n.2324C= n.2110C= n.192C= c.1992C= (p.Phe664=) c.2103C= (p.Phe701=) c.2196C= (p.Phe732=) c.2082C= (p.Phe694=) c.2079C= (p.Phe693=) c.1932C= (p.Phe644=) c.1038C= (p.Phe346=) | dbSNP |
| 2 | g.39013524G>T | CA346364642 | SOS1 | c.870C>A (p.Phe290Leu) n.2324C>A n.2110C>A n.192C>A c.1992C>A (p.Phe664Leu) c.2103C>A (p.Phe701Leu) c.2196C>A (p.Phe732Leu) c.2082C>A (p.Phe694Leu) c.2079C>A (p.Phe693Leu) c.1932C>A (p.Phe644Leu) c.1038C>A (p.Phe346Leu) | |
| 2 | g.39013525A= | CA3098631974 | SOS1 | c.869T= (p.Phe290=) n.2323T= n.2109T= n.191T= c.1991T= (p.Phe664=) c.2102T= (p.Phe701=) c.2195T= (p.Phe732=) c.2081T= (p.Phe694=) c.2078T= (p.Phe693=) c.1931T= (p.Phe644=) c.1037T= (p.Phe346=) | dbSNP |
| 2 | g.39013525A>C | CA346364645 | SOS1 | c.869T>G (p.Phe290Cys) n.2323T>G n.2109T>G n.191T>G c.1991T>G (p.Phe664Cys) c.2102T>G (p.Phe701Cys) c.2195T>G (p.Phe732Cys) c.2081T>G (p.Phe694Cys) c.2078T>G (p.Phe693Cys) c.1931T>G (p.Phe644Cys) c.1037T>G (p.Phe346Cys) | |
| 2 | g.39013525A>G | CA346364644 | SOS1 | c.869T>C (p.Phe290Ser) n.2323T>C n.2109T>C n.191T>C c.1991T>C (p.Phe664Ser) c.2102T>C (p.Phe701Ser) c.2195T>C (p.Phe732Ser) c.2081T>C (p.Phe694Ser) c.2078T>C (p.Phe693Ser) c.1931T>C (p.Phe644Ser) c.1037T>C (p.Phe346Ser) | dbSNP gnomAD v4 |
| 2 | g.39013525A>T | CA346364643 | SOS1 | c.869T>A (p.Phe290Tyr) n.2323T>A n.2109T>A n.191T>A c.1991T>A (p.Phe664Tyr) c.2102T>A (p.Phe701Tyr) c.2195T>A (p.Phe732Tyr) c.2081T>A (p.Phe694Tyr) c.2078T>A (p.Phe693Tyr) c.1931T>A (p.Phe644Tyr) c.1037T>A (p.Phe346Tyr) | |
| 2 | g.39013526A>C | CA346364646 | SOS1 | c.868T>G (p.Phe290Val) n.2322T>G n.2108T>G n.190T>G c.1990T>G (p.Phe664Val) c.2101T>G (p.Phe701Val) c.2194T>G (p.Phe732Val) c.2080T>G (p.Phe694Val) c.2077T>G (p.Phe693Val) c.1930T>G (p.Phe644Val) c.1036T>G (p.Phe346Val) | |
| 2 | g.39013526A>G | CA346364647 | SOS1 | c.868T>C (p.Phe290Leu) n.2322T>C n.2108T>C n.190T>C c.1990T>C (p.Phe664Leu) c.2101T>C (p.Phe701Leu) c.2194T>C (p.Phe732Leu) c.2080T>C (p.Phe694Leu) c.2077T>C (p.Phe693Leu) c.1930T>C (p.Phe644Leu) c.1036T>C (p.Phe346Leu) | |
| 2 | g.39013526A>T | CA346364648 | SOS1 | c.868T>A (p.Phe290Ile) n.2322T>A n.2108T>A n.190T>A c.1990T>A (p.Phe664Ile) c.2101T>A (p.Phe701Ile) c.2194T>A (p.Phe732Ile) c.2080T>A (p.Phe694Ile) c.2077T>A (p.Phe693Ile) c.1930T>A (p.Phe644Ile) c.1036T>A (p.Phe346Ile) | |
| 2 | g.39013527G>A | CA425730902 | SOS1 | c.867C>T (p.His289=) n.2321C>T n.2107C>T n.189C>T c.1989C>T (p.His663=) c.2100C>T (p.His700=) c.2193C>T (p.His731=) c.2079C>T (p.His693=) c.2076C>T (p.His692=) c.1929C>T (p.His643=) c.1035C>T (p.His345=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.39013527G>C | CA346364649 | SOS1 | c.867C>G (p.His289Gln) n.2321C>G n.2107C>G n.189C>G c.1989C>G (p.His663Gln) c.2100C>G (p.His700Gln) c.2193C>G (p.His731Gln) c.2079C>G (p.His693Gln) c.2076C>G (p.His692Gln) c.1929C>G (p.His643Gln) c.1035C>G (p.His345Gln) | ClinVar dbSNP |
| 2 | g.39013527G= | CA1246131887 | SOS1 | c.867C= (p.His289=) n.2321C= n.2107C= n.189C= c.1989C= (p.His663=) c.2100C= (p.His700=) c.2193C= (p.His731=) c.2079C= (p.His693=) c.2076C= (p.His692=) c.1929C= (p.His643=) c.1035C= (p.His345=) | dbSNP |
| 2 | g.39013527G>T | CA346364650 | SOS1 | c.867C>A (p.His289Gln) n.2321C>A n.2107C>A n.189C>A c.1989C>A (p.His663Gln) c.2100C>A (p.His700Gln) c.2193C>A (p.His731Gln) c.2079C>A (p.His693Gln) c.2076C>A (p.His692Gln) c.1929C>A (p.His643Gln) c.1035C>A (p.His345Gln) | |
| 2 | g.39013528T>A | CA346364651 | SOS1 | c.866A>T (p.His289Leu) n.2320A>T n.2106A>T n.188A>T c.1988A>T (p.His663Leu) c.2099A>T (p.His700Leu) c.2192A>T (p.His731Leu) c.2078A>T (p.His693Leu) c.2075A>T (p.His692Leu) c.1928A>T (p.His643Leu) c.1034A>T (p.His345Leu) | |
| 2 | g.39013528T>C | CA346364652 | SOS1 | c.866A>G (p.His289Arg) n.2320A>G n.2106A>G n.188A>G c.1988A>G (p.His663Arg) c.2099A>G (p.His700Arg) c.2192A>G (p.His731Arg) c.2078A>G (p.His693Arg) c.2075A>G (p.His692Arg) c.1928A>G (p.His643Arg) c.1034A>G (p.His345Arg) | |
| 2 | g.39013528T>G | CA346364653 | SOS1 | c.866A>C (p.His289Pro) n.2320A>C n.2106A>C n.188A>C c.1988A>C (p.His663Pro) c.2099A>C (p.His700Pro) c.2192A>C (p.His731Pro) c.2078A>C (p.His693Pro) c.2075A>C (p.His692Pro) c.1928A>C (p.His643Pro) c.1034A>C (p.His345Pro) | |
| 2 | g.39013529G>A | CA346364654 | SOS1 | c.865C>T (p.His289Tyr) n.2319C>T n.2105C>T n.187C>T c.1987C>T (p.His663Tyr) c.2098C>T (p.His700Tyr) c.2191C>T (p.His731Tyr) c.2077C>T (p.His693Tyr) c.2074C>T (p.His692Tyr) c.1927C>T (p.His643Tyr) c.1033C>T (p.His345Tyr) | |
| 2 | g.39013529G>C | CA346364655 | SOS1 | c.865C>G (p.His289Asp) n.2319C>G n.2105C>G n.187C>G c.1987C>G (p.His663Asp) c.2098C>G (p.His700Asp) c.2191C>G (p.His731Asp) c.2077C>G (p.His693Asp) c.2074C>G (p.His692Asp) c.1927C>G (p.His643Asp) c.1033C>G (p.His345Asp) | ClinVar dbSNP |
| 2 | g.39013529G= | CA3098632021 | SOS1 | c.865C= (p.His289=) n.2319C= n.2105C= n.187C= c.1987C= (p.His663=) c.2098C= (p.His700=) c.2191C= (p.His731=) c.2077C= (p.His693=) c.2074C= (p.His692=) c.1927C= (p.His643=) c.1033C= (p.His345=) | dbSNP |
| 2 | g.39013529G>T | CA346364656 | SOS1 | c.865C>A (p.His289Asn) n.2319C>A n.2105C>A n.187C>A c.1987C>A (p.His663Asn) c.2098C>A (p.His700Asn) c.2191C>A (p.His731Asn) c.2077C>A (p.His693Asn) c.2074C>A (p.His692Asn) c.1927C>A (p.His643Asn) c.1033C>A (p.His345Asn) | |
| 2 | g.39013530G>A | CA1624463 | SOS1 | c.864C>T (p.His288=) n.2318C>T n.2104C>T n.186C>T c.1986C>T (p.His662=) c.2097C>T (p.His699=) c.2190C>T (p.His730=) c.2076C>T (p.His692=) c.2073C>T (p.His691=) c.1926C>T (p.His642=) c.1032C>T (p.His344=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.39013530G>C | CA346364657 | SOS1 | c.864C>G (p.His288Gln) n.2318C>G n.2104C>G n.186C>G c.1986C>G (p.His662Gln) c.2097C>G (p.His699Gln) c.2190C>G (p.His730Gln) c.2076C>G (p.His692Gln) c.2073C>G (p.His691Gln) c.1926C>G (p.His642Gln) c.1032C>G (p.His344Gln) | |
| 2 | g.39013530G= | CA1246131888 | SOS1 | c.864C= (p.His288=) n.2318C= n.2104C= n.186C= c.1986C= (p.His662=) c.2097C= (p.His699=) c.2190C= (p.His730=) c.2076C= (p.His692=) c.2073C= (p.His691=) c.1926C= (p.His642=) c.1032C= (p.His344=) | dbSNP |
| 2 | g.39013530G>T | CA45661533 | SOS1 | c.864C>A (p.His288Gln) n.2318C>A n.2104C>A n.186C>A c.1986C>A (p.His662Gln) c.2097C>A (p.His699Gln) c.2190C>A (p.His730Gln) c.2076C>A (p.His692Gln) c.2073C>A (p.His691Gln) c.1926C>A (p.His642Gln) c.1032C>A (p.His344Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.39013530_39013538delinsTTGCTCTAA | CA2499215941 | SOS1 | c.856_864delinsTTAGAGCAA (p.Val286_His288delinsLeuGluGln) n.2310_2318delinsTTAGAGCAA n.2096_2104delinsTTAGAGCAA n.178_186delinsTTAGAGCAA c.1978_1986delinsTTAGAGCAA (p.Val660_His662delinsLeuGluGln) c.2089_2097delinsTTAGAGCAA (p.Val697_His699delinsLeuGluGln) c.2182_2190delinsTTAGAGCAA (p.Val728_His730delinsLeuGluGln) c.2068_2076delinsTTAGAGCAA (p.Val690_His692delinsLeuGluGln) c.2065_2073delinsTTAGAGCAA (p.Val689_His691delinsLeuGluGln) c.1918_1926delinsTTAGAGCAA (p.Val640_His642delinsLeuGluGln) c.1024_1032delinsTTAGAGCAA (p.Val342_His344delinsLeuGluGln) | ClinVar dbSNP |
| 2 | g.39013531T>A | CA346364659 | SOS1 | c.863A>T (p.His288Leu) n.2317A>T n.2103A>T n.185A>T c.1985A>T (p.His662Leu) c.2096A>T (p.His699Leu) c.2189A>T (p.His730Leu) c.2075A>T (p.His692Leu) c.2072A>T (p.His691Leu) c.1925A>T (p.His642Leu) c.1031A>T (p.His344Leu) | |
| 2 | g.39013531T>C | CA346364660 | SOS1 | c.863A>G (p.His288Arg) n.2317A>G n.2103A>G n.185A>G c.1985A>G (p.His662Arg) c.2096A>G (p.His699Arg) c.2189A>G (p.His730Arg) c.2075A>G (p.His692Arg) c.2072A>G (p.His691Arg) c.1925A>G (p.His642Arg) c.1031A>G (p.His344Arg) | |
| 2 | g.39013531T>G | CA346364658 | SOS1 | c.863A>C (p.His288Pro) n.2317A>C n.2103A>C n.185A>C c.1985A>C (p.His662Pro) c.2096A>C (p.His699Pro) c.2189A>C (p.His730Pro) c.2075A>C (p.His692Pro) c.2072A>C (p.His691Pro) c.1925A>C (p.His642Pro) c.1031A>C (p.His344Pro) | |
| 2 | g.39013532G>A | CA346364661 | SOS1 | c.862C>T (p.His288Tyr) n.2316C>T n.2102C>T n.184C>T c.1984C>T (p.His662Tyr) c.2095C>T (p.His699Tyr) c.2188C>T (p.His730Tyr) c.2074C>T (p.His692Tyr) c.2071C>T (p.His691Tyr) c.1924C>T (p.His642Tyr) c.1030C>T (p.His344Tyr) | dbSNP |
| 2 | g.39013532G>C | CA346364662 | SOS1 | c.862C>G (p.His288Asp) n.2316C>G n.2102C>G n.184C>G c.1984C>G (p.His662Asp) c.2095C>G (p.His699Asp) c.2188C>G (p.His730Asp) c.2074C>G (p.His692Asp) c.2071C>G (p.His691Asp) c.1924C>G (p.His642Asp) c.1030C>G (p.His344Asp) | |
| 2 | g.39013532G= | CA1246131889 | SOS1 | c.862C= (p.His288=) n.2316C= n.2102C= n.184C= c.1984C= (p.His662=) c.2095C= (p.His699=) c.2188C= (p.His730=) c.2074C= (p.His692=) c.2071C= (p.His691=) c.1924C= (p.His642=) c.1030C= (p.His344=) | dbSNP |
| 2 | g.39013532G>T | CA346364663 | SOS1 | c.862C>A (p.His288Asn) n.2316C>A n.2102C>A n.184C>A c.1984C>A (p.His662Asn) c.2095C>A (p.His699Asn) c.2188C>A (p.His730Asn) c.2074C>A (p.His692Asn) c.2071C>A (p.His691Asn) c.1924C>A (p.His642Asn) c.1030C>A (p.His344Asn) | |
| 2 | g.39013533C>A | CA346364664 | SOS1 | c.861G>T (p.Glu287Asp) n.2315G>T n.2101G>T n.183G>T c.1983G>T (p.Glu661Asp) c.2094G>T (p.Glu698Asp) c.2187G>T (p.Glu729Asp) c.2073G>T (p.Glu691Asp) c.2070G>T (p.Glu690Asp) c.1923G>T (p.Glu641Asp) c.1029G>T (p.Glu343Asp) | |
| 2 | g.39013533C= | CA1246131890 | SOS1 | c.861G= (p.Glu287=) n.2315G= n.2101G= n.183G= c.1983G= (p.Glu661=) c.2094G= (p.Glu698=) c.2187G= (p.Glu729=) c.2073G= (p.Glu691=) c.2070G= (p.Glu690=) c.1923G= (p.Glu641=) c.1029G= (p.Glu343=) | dbSNP |
| 2 | g.39013533C>G | CA346364665 | SOS1 | c.861G>C (p.Glu287Asp) n.2315G>C n.2101G>C n.183G>C c.1983G>C (p.Glu661Asp) c.2094G>C (p.Glu698Asp) c.2187G>C (p.Glu729Asp) c.2073G>C (p.Glu691Asp) c.2070G>C (p.Glu690Asp) c.1923G>C (p.Glu641Asp) c.1029G>C (p.Glu343Asp) | |
| 2 | g.39013533C>T | CA425730924 | SOS1 | c.861G>A (p.Glu287=) n.2315G>A n.2101G>A n.183G>A c.1983G>A (p.Glu661=) c.2094G>A (p.Glu698=) c.2187G>A (p.Glu729=) c.2073G>A (p.Glu691=) c.2070G>A (p.Glu690=) c.1923G>A (p.Glu641=) c.1029G>A (p.Glu343=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.39013534T>A | CA346364666 | SOS1 | c.860A>T (p.Glu287Val) n.2314A>T n.2100A>T n.182A>T c.1982A>T (p.Glu661Val) c.2093A>T (p.Glu698Val) c.2186A>T (p.Glu729Val) c.2072A>T (p.Glu691Val) c.2069A>T (p.Glu690Val) c.1922A>T (p.Glu641Val) c.1028A>T (p.Glu343Val) | |
| 2 | g.39013534T>C | CA346364667 | SOS1 | c.860A>G (p.Glu287Gly) n.2314A>G n.2100A>G n.182A>G c.1982A>G (p.Glu661Gly) c.2093A>G (p.Glu698Gly) c.2186A>G (p.Glu729Gly) c.2072A>G (p.Glu691Gly) c.2069A>G (p.Glu690Gly) c.1922A>G (p.Glu641Gly) c.1028A>G (p.Glu343Gly) | |
| 2 | g.39013534T>G | CA346364668 | SOS1 | c.860A>C (p.Glu287Ala) n.2314A>C n.2100A>C n.182A>C c.1982A>C (p.Glu661Ala) c.2093A>C (p.Glu698Ala) c.2186A>C (p.Glu729Ala) c.2072A>C (p.Glu691Ala) c.2069A>C (p.Glu690Ala) c.1922A>C (p.Glu641Ala) c.1028A>C (p.Glu343Ala) | |
| 2 | g.39013535C>A | CA346364669 | SOS1 | c.859G>T (p.Glu287Ter) n.2313G>T n.2099G>T n.181G>T c.1981G>T (p.Glu661Ter) c.2092G>T (p.Glu698Ter) c.2185G>T (p.Glu729Ter) c.2071G>T (p.Glu691Ter) c.2068G>T (p.Glu690Ter) c.1921G>T (p.Glu641Ter) c.1027G>T (p.Glu343Ter) | |
| 2 | g.39013535C= | CA3090197943 | SOS1 | c.859G= (p.Glu287=) n.2313G= n.2099G= n.181G= c.1981G= (p.Glu661=) c.2092G= (p.Glu698=) c.2185G= (p.Glu729=) c.2071G= (p.Glu691=) c.2068G= (p.Glu690=) c.1921G= (p.Glu641=) c.1027G= (p.Glu343=) | dbSNP |
| 2 | g.39013535C>G | CA346364670 | SOS1 | c.859G>C (p.Glu287Gln) n.2313G>C n.2099G>C n.181G>C c.1981G>C (p.Glu661Gln) c.2092G>C (p.Glu698Gln) c.2185G>C (p.Glu729Gln) c.2071G>C (p.Glu691Gln) c.2068G>C (p.Glu690Gln) c.1921G>C (p.Glu641Gln) c.1027G>C (p.Glu343Gln) | dbSNP |
| 2 | g.39013535C>T | CA346364671 | SOS1 | c.859G>A (p.Glu287Lys) n.2313G>A n.2099G>A n.181G>A c.1981G>A (p.Glu661Lys) c.2092G>A (p.Glu698Lys) c.2185G>A (p.Glu729Lys) c.2071G>A (p.Glu691Lys) c.2068G>A (p.Glu690Lys) c.1921G>A (p.Glu641Lys) c.1027G>A (p.Glu343Lys) | |
| 2 | g.39013536T>A | CA425730931 | SOS1 | c.858A>T (p.Val286=) n.2312A>T n.2098A>T n.180A>T c.1980A>T (p.Val660=) c.2091A>T (p.Val697=) c.2184A>T (p.Val728=) c.2070A>T (p.Val690=) c.2067A>T (p.Val689=) c.1920A>T (p.Val640=) c.1026A>T (p.Val342=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.39013536T>C | CA425730932 | SOS1 | c.858A>G (p.Val286=) n.2312A>G n.2098A>G n.180A>G c.1980A>G (p.Val660=) c.2091A>G (p.Val697=) c.2184A>G (p.Val728=) c.2070A>G (p.Val690=) c.2067A>G (p.Val689=) c.1920A>G (p.Val640=) c.1026A>G (p.Val342=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.39013536T>G | CA425730933 | SOS1 | c.858A>C (p.Val286=) n.2312A>C n.2098A>C n.180A>C c.1980A>C (p.Val660=) c.2091A>C (p.Val697=) c.2184A>C (p.Val728=) c.2070A>C (p.Val690=) c.2067A>C (p.Val689=) c.1920A>C (p.Val640=) c.1026A>C (p.Val342=) | |
| 2 | g.39013536T= | CA1246131891 | SOS1 | c.858A= (p.Val286=) n.2312A= n.2098A= n.180A= c.1980A= (p.Val660=) c.2091A= (p.Val697=) c.2184A= (p.Val728=) c.2070A= (p.Val690=) c.2067A= (p.Val689=) c.1920A= (p.Val640=) c.1026A= (p.Val342=) | dbSNP |
| 2 | g.39013537A>C | CA346364674 | SOS1 | c.857T>G (p.Val286Gly) n.2311T>G n.2097T>G n.179T>G c.1979T>G (p.Val660Gly) c.2090T>G (p.Val697Gly) c.2183T>G (p.Val728Gly) c.2069T>G (p.Val690Gly) c.2066T>G (p.Val689Gly) c.1919T>G (p.Val640Gly) c.1025T>G (p.Val342Gly) |