| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50153118C>A | CA16042859 | SOS2 | c.2113G>T (p.Asp705Tyr) c.2014G>T (p.Asp672Tyr) c.1933G>T (p.Asp645Tyr) c.2074G>T (p.Asp692Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50153118C= | CA2136066073 | SOS2 | c.2113G= (p.Asp705=) c.2014G= (p.Asp672=) c.1933G= (p.Asp645=) c.2074G= (p.Asp692=) | |
| 14 | g.50153118C>G | CA389644187 | SOS2 | c.2113G>C (p.Asp705His) c.2014G>C (p.Asp672His) c.1933G>C (p.Asp645His) c.2074G>C (p.Asp692His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50153118C>T | CA389644188 | SOS2 | c.2113G>A (p.Asp705Asn) c.2014G>A (p.Asp672Asn) c.1933G>A (p.Asp645Asn) c.2074G>A (p.Asp692Asn) | |
| 14 | g.50153119T>A | CA389644189 | SOS2 | c.2112A>T (p.Arg704Ser) c.2013A>T (p.Arg671Ser) c.1932A>T (p.Arg644Ser) c.2073A>T (p.Arg691Ser) | |
| 14 | g.50153119T>C | CA486175136 | SOS2 | c.2112A>G (p.Arg704=) c.2013A>G (p.Arg671=) c.1932A>G (p.Arg644=) c.2073A>G (p.Arg691=) | |
| 14 | g.50153119T>G | CA389644190 | SOS2 | c.2112A>C (p.Arg704Ser) c.2013A>C (p.Arg671Ser) c.1932A>C (p.Arg644Ser) c.2073A>C (p.Arg691Ser) | gnomAD v4 |
| 14 | g.50153120C>A | CA389644191 | SOS2 | c.2111G>T (p.Arg704Ile) c.2012G>T (p.Arg671Ile) c.1931G>T (p.Arg644Ile) c.2072G>T (p.Arg691Ile) | |
| 14 | g.50153120C>G | CA389644193 | SOS2 | c.2111G>C (p.Arg704Thr) c.2012G>C (p.Arg671Thr) c.1931G>C (p.Arg644Thr) c.2072G>C (p.Arg691Thr) | |
| 14 | g.50153120C>T | CA389644192 | SOS2 | c.2111G>A (p.Arg704Lys) c.2012G>A (p.Arg671Lys) c.1931G>A (p.Arg644Lys) c.2072G>A (p.Arg691Lys) | |
| 14 | g.50153121T>A | CA389644194 | SOS2 | c.2110A>T (p.Arg704Ter) c.2011A>T (p.Arg671Ter) c.1930A>T (p.Arg644Ter) c.2071A>T (p.Arg691Ter) | |
| 14 | g.50153121T>C | CA389644195 | SOS2 | c.2110A>G (p.Arg704Gly) c.2011A>G (p.Arg671Gly) c.1930A>G (p.Arg644Gly) c.2071A>G (p.Arg691Gly) | |
| 14 | g.50153121T>G | CA486175137 | SOS2 | c.2110A>C (p.Arg704=) c.2011A>C (p.Arg671=) c.1930A>C (p.Arg644=) c.2071A>C (p.Arg691=) | |
| 14 | g.50153122T>A | CA389644196 | SOS2 | c.2109A>T (p.Glu703Asp) c.2010A>T (p.Glu670Asp) c.1929A>T (p.Glu643Asp) c.2070A>T (p.Glu690Asp) | |
| 14 | g.50153122T>C | CA486175138 | SOS2 | c.2109A>G (p.Glu703=) c.2010A>G (p.Glu670=) c.1929A>G (p.Glu643=) c.2070A>G (p.Glu690=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.50153122T>G | CA389644197 | SOS2 | c.2109A>C (p.Glu703Asp) c.2010A>C (p.Glu670Asp) c.1929A>C (p.Glu643Asp) c.2070A>C (p.Glu690Asp) | |
| 14 | g.50153122T= | CA2136066074 | SOS2 | c.2109A= (p.Glu703=) c.2010A= (p.Glu670=) c.1929A= (p.Glu643=) c.2070A= (p.Glu690=) | |
| 14 | g.50153123T>A | CA389644198 | SOS2 | c.2108A>T (p.Glu703Val) c.2009A>T (p.Glu670Val) c.1928A>T (p.Glu643Val) c.2069A>T (p.Glu690Val) | |
| 14 | g.50153123T>C | CA389644199 | SOS2 | c.2108A>G (p.Glu703Gly) c.2009A>G (p.Glu670Gly) c.1928A>G (p.Glu643Gly) c.2069A>G (p.Glu690Gly) | |
| 14 | g.50153123T>G | CA389644200 | SOS2 | c.2108A>C (p.Glu703Ala) c.2009A>C (p.Glu670Ala) c.1928A>C (p.Glu643Ala) c.2069A>C (p.Glu690Ala) | |
| 14 | g.50153124C>A | CA389644201 | SOS2 | c.2107G>T (p.Glu703Ter) c.2008G>T (p.Glu670Ter) c.1927G>T (p.Glu643Ter) c.2068G>T (p.Glu690Ter) | gnomAD v4 |
| 14 | g.50153124C>G | CA389644202 | SOS2 | c.2107G>C (p.Glu703Gln) c.2008G>C (p.Glu670Gln) c.1927G>C (p.Glu643Gln) c.2068G>C (p.Glu690Gln) | |
| 14 | g.50153124C>T | CA389644203 | SOS2 | c.2107G>A (p.Glu703Lys) c.2008G>A (p.Glu670Lys) c.1927G>A (p.Glu643Lys) c.2068G>A (p.Glu690Lys) | |
| 14 | g.50153125A= | CA2136066075 | SOS2 | c.2106T= (p.Phe702=) c.2007T= (p.Phe669=) c.1926T= (p.Phe642=) c.2067T= (p.Phe689=) | |
| 14 | g.50153125A>C | CA389644204 | SOS2 | c.2106T>G (p.Phe702Leu) c.2007T>G (p.Phe669Leu) c.1926T>G (p.Phe642Leu) c.2067T>G (p.Phe689Leu) | |
| 14 | g.50153125A>G | CA486175139 | SOS2 | c.2106T>C (p.Phe702=) c.2007T>C (p.Phe669=) c.1926T>C (p.Phe642=) c.2067T>C (p.Phe689=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.50153125A>T | CA389644205 | SOS2 | c.2106T>A (p.Phe702Leu) c.2007T>A (p.Phe669Leu) c.1926T>A (p.Phe642Leu) c.2067T>A (p.Phe689Leu) | |
| 14 | g.50153126A>C | CA389644207 | SOS2 | c.2105T>G (p.Phe702Cys) c.2006T>G (p.Phe669Cys) c.1925T>G (p.Phe642Cys) c.2066T>G (p.Phe689Cys) | |
| 14 | g.50153126A>G | CA389644208 | SOS2 | c.2105T>C (p.Phe702Ser) c.2006T>C (p.Phe669Ser) c.1925T>C (p.Phe642Ser) c.2066T>C (p.Phe689Ser) | |
| 14 | g.50153126A>T | CA389644206 | SOS2 | c.2105T>A (p.Phe702Tyr) c.2006T>A (p.Phe669Tyr) c.1925T>A (p.Phe642Tyr) c.2066T>A (p.Phe689Tyr) | gnomAD v4 |
| 14 | g.50153127A>C | CA389644209 | SOS2 | c.2104T>G (p.Phe702Val) c.2005T>G (p.Phe669Val) c.1924T>G (p.Phe642Val) c.2065T>G (p.Phe689Val) | |
| 14 | g.50153127A>G | CA389644210 | SOS2 | c.2104T>C (p.Phe702Leu) c.2005T>C (p.Phe669Leu) c.1924T>C (p.Phe642Leu) c.2065T>C (p.Phe689Leu) | ClinVar dbSNP |
| 14 | g.50153127A>T | CA389644211 | SOS2 | c.2104T>A (p.Phe702Ile) c.2005T>A (p.Phe669Ile) c.1924T>A (p.Phe642Ile) c.2065T>A (p.Phe689Ile) | |
| 14 | g.50153128G>A | CA486175140 | SOS2 | c.2103C>T (p.Asp701=) c.2004C>T (p.Asp668=) c.1923C>T (p.Asp641=) c.2064C>T (p.Asp688=) | gnomAD v4 |
| 14 | g.50153128G>C | CA389644212 | SOS2 | c.2103C>G (p.Asp701Glu) c.2004C>G (p.Asp668Glu) c.1923C>G (p.Asp641Glu) c.2064C>G (p.Asp688Glu) | gnomAD v4 |
| 14 | g.50153128G>T | CA389644213 | SOS2 | c.2103C>A (p.Asp701Glu) c.2004C>A (p.Asp668Glu) c.1923C>A (p.Asp641Glu) c.2064C>A (p.Asp688Glu) | |
| 14 | g.50153129T>A | CA389644216 | SOS2 | c.2102A>T (p.Asp701Val) c.2003A>T (p.Asp668Val) c.1922A>T (p.Asp641Val) c.2063A>T (p.Asp688Val) | |
| 14 | g.50153129T>C | CA389644214 | SOS2 | c.2102A>G (p.Asp701Gly) c.2003A>G (p.Asp668Gly) c.1922A>G (p.Asp641Gly) c.2063A>G (p.Asp688Gly) | |
| 14 | g.50153129T>G | CA389644215 | SOS2 | c.2102A>C (p.Asp701Ala) c.2003A>C (p.Asp668Ala) c.1922A>C (p.Asp641Ala) c.2063A>C (p.Asp688Ala) | |
| 14 | g.50153130C>A | CA389644217 | SOS2 | c.2101G>T (p.Asp701Tyr) c.2002G>T (p.Asp668Tyr) c.1921G>T (p.Asp641Tyr) c.2062G>T (p.Asp688Tyr) | |
| 14 | g.50153130C>G | CA389644218 | SOS2 | c.2101G>C (p.Asp701His) c.2002G>C (p.Asp668His) c.1921G>C (p.Asp641His) c.2062G>C (p.Asp688His) | |
| 14 | g.50153130C>T | CA389644219 | SOS2 | c.2101G>A (p.Asp701Asn) c.2002G>A (p.Asp668Asn) c.1921G>A (p.Asp641Asn) c.2062G>A (p.Asp688Asn) | |
| 14 | g.50153131A>C | CA389644220 | SOS2 | c.2100T>G (p.Tyr700Ter) c.2001T>G (p.Tyr667Ter) c.1920T>G (p.Tyr640Ter) c.2061T>G (p.Tyr687Ter) | |
| 14 | g.50153131A>G | CA486175141 | SOS2 | c.2100T>C (p.Tyr700=) c.2001T>C (p.Tyr667=) c.1920T>C (p.Tyr640=) c.2061T>C (p.Tyr687=) | gnomAD v4 |
| 14 | g.50153131A>T | CA389644221 | SOS2 | c.2100T>A (p.Tyr700Ter) c.2001T>A (p.Tyr667Ter) c.1920T>A (p.Tyr640Ter) c.2061T>A (p.Tyr687Ter) | gnomAD v4 |
| 14 | g.50153132T>A | CA389644222 | SOS2 | c.2099A>T (p.Tyr700Phe) c.2000A>T (p.Tyr667Phe) c.1919A>T (p.Tyr640Phe) c.2060A>T (p.Tyr687Phe) | |
| 14 | g.50153132T>C | CA7177128 | SOS2 | c.2099A>G (p.Tyr700Cys) c.2000A>G (p.Tyr667Cys) c.1919A>G (p.Tyr640Cys) c.2060A>G (p.Tyr687Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50153132T>G | CA389644223 | SOS2 | c.2099A>C (p.Tyr700Ser) c.2000A>C (p.Tyr667Ser) c.1919A>C (p.Tyr640Ser) c.2060A>C (p.Tyr687Ser) | |
| 14 | g.50153132T= | CA2136066076 | SOS2 | c.2099A= (p.Tyr700=) c.2000A= (p.Tyr667=) c.1919A= (p.Tyr640=) c.2060A= (p.Tyr687=) | |
| 14 | g.50153133A>C | CA389644224 | SOS2 | c.2098T>G (p.Tyr700Asp) c.1999T>G (p.Tyr667Asp) c.1918T>G (p.Tyr640Asp) c.2059T>G (p.Tyr687Asp) |