Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.50153042G>ACA2624771411SOS2c.2161+28C>T (n.2161+28C>T)
c.2062+28C>T (n.2062+28C>T)
c.1981+28C>T (n.1981+28C>T)
c.2122+28C>T (n.2122+28C>T)
gnomAD v4
14g.50153042G>TCA2575520453SOS2c.2161+28C>A (n.2161+28C>A)
c.2062+28C>A (n.2062+28C>A)
c.1981+28C>A (n.1981+28C>A)
c.2122+28C>A (n.2122+28C>A)
gnomAD v4
14g.50153044T>CCA2624771412SOS2c.2161+26A>G (n.2161+26A>G)
c.2062+26A>G (n.2062+26A>G)
c.1981+26A>G (n.1981+26A>G)
c.2122+26A>G (n.2122+26A>G)
gnomAD v4
14g.50153044_50153048delinsTTCAACA2136066044SOS2c.2161+22_2161+26delinsTTGAA (n.2161+22_2161+26delinsTTGAA)
c.2062+22_2062+26delinsTTGAA (n.2062+22_2062+26delinsTTGAA)
c.1981+22_1981+26delinsTTGAA (n.1981+22_1981+26delinsTTGAA)
c.2122+22_2122+26delinsTTGAA (n.2122+22_2122+26delinsTTGAA)
14g.50153045T>CCA2624771413SOS2c.2161+25A>G (n.2161+25A>G)
c.2062+25A>G (n.2062+25A>G)
c.1981+25A>G (n.1981+25A>G)
c.2122+25A>G (n.2122+25A>G)
gnomAD v4
14g.50153045T>GCA613848285SOS2c.2161+25A>C (n.2161+25A>C)
c.2062+25A>C (n.2062+25A>C)
c.1981+25A>C (n.1981+25A>C)
c.2122+25A>C (n.2122+25A>C)
dbSNP gnomAD v2 gnomAD v4
14g.50153045T=CA2136066045SOS2c.2161+25A= (n.2161+25A=)
c.2062+25A= (n.2062+25A=)
c.1981+25A= (n.1981+25A=)
c.2122+25A= (n.2122+25A=)
14g.50153049_50153052delCA613848287SOS2c.2161+22_2161+25del (n.2161+22_2161+25del)
c.2062+22_2062+25del (n.2062+22_2062+25del)
c.1981+22_1981+25del (n.1981+22_1981+25del)
c.2122+22_2122+25del (n.2122+22_2122+25del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50153046C>ACA963008689SOS2c.2161+24G>T (n.2161+24G>T)
c.2062+24G>T (n.2062+24G>T)
c.1981+24G>T (n.1981+24G>T)
c.2122+24G>T (n.2122+24G>T)
dbSNP gnomAD v3 gnomAD v4
14g.50153046C=CA2136066046SOS2c.2161+24G= (n.2161+24G=)
c.2062+24G= (n.2062+24G=)
c.1981+24G= (n.1981+24G=)
c.2122+24G= (n.2122+24G=)
14g.50153046C>GCA706558253SOS2c.2161+24G>C (n.2161+24G>C)
c.2062+24G>C (n.2062+24G>C)
c.1981+24G>C (n.1981+24G>C)
c.2122+24G>C (n.2122+24G>C)
dbSNP gnomAD v3 gnomAD v4
14g.50153046C>TCA2624771417SOS2c.2161+24G>A (n.2161+24G>A)
c.2062+24G>A (n.2062+24G>A)
c.1981+24G>A (n.1981+24G>A)
c.2122+24G>A (n.2122+24G>A)
gnomAD v4
14g.50153047A>TCA2624771418SOS2c.2161+23T>A (n.2161+23T>A)
c.2062+23T>A (n.2062+23T>A)
c.1981+23T>A (n.1981+23T>A)
c.2122+23T>A (n.2122+23T>A)
gnomAD v4
14g.50153048A>GCA2575520454SOS2c.2161+22T>C (n.2161+22T>C)
c.2062+22T>C (n.2062+22T>C)
c.1981+22T>C (n.1981+22T>C)
c.2122+22T>C (n.2122+22T>C)
14g.50153049T>CCA2624771420SOS2c.2161+21A>G (n.2161+21A>G)
c.2062+21A>G (n.2062+21A>G)
c.1981+21A>G (n.1981+21A>G)
c.2122+21A>G (n.2122+21A>G)
gnomAD v4
14g.50153050C>ACA2624771422SOS2c.2161+20G>T (n.2161+20G>T)
c.2062+20G>T (n.2062+20G>T)
c.1981+20G>T (n.1981+20G>T)
c.2122+20G>T (n.2122+20G>T)
gnomAD v4
14g.50153050_50153051delinsCACA2136066047SOS2c.2161+19_2161+20delinsTG (n.2161+19_2161+20delinsTG)
c.2062+19_2062+20delinsTG (n.2062+19_2062+20delinsTG)
c.1981+19_1981+20delinsTG (n.1981+19_1981+20delinsTG)
c.2122+19_2122+20delinsTG (n.2122+19_2122+20delinsTG)
14g.50153051A>CCA2624771426SOS2c.2161+19T>G (n.2161+19T>G)
c.2062+19T>G (n.2062+19T>G)
c.1981+19T>G (n.1981+19T>G)
c.2122+19T>G (n.2122+19T>G)
dbSNP gnomAD v4
14g.50153053delCA389644074SOS2c.2161+19del (n.2161+19del)
c.2062+19del (n.2062+19del)
c.1981+19del (n.1981+19del)
c.2122+19del (n.2122+19del)
ClinVar dbSNP gnomAD v4
14g.50153052A=CA2136066048SOS2c.2161+18T= (n.2161+18T=)
c.2062+18T= (n.2062+18T=)
c.1981+18T= (n.1981+18T=)
c.2122+18T= (n.2122+18T=)
14g.50153052A>GCA2136066049SOS2c.2161+18T>C (n.2161+18T>C)
c.2062+18T>C (n.2062+18T>C)
c.1981+18T>C (n.1981+18T>C)
c.2122+18T>C (n.2122+18T>C)
dbSNP gnomAD v4
14g.50153053A=CA2136066051SOS2c.2161+17T= (n.2161+17T=)
c.2062+17T= (n.2062+17T=)
c.1981+17T= (n.1981+17T=)
c.2122+17T= (n.2122+17T=)
14g.50153053A>CCA613848288SOS2c.2161+17T>G (n.2161+17T>G)
c.2062+17T>G (n.2062+17T>G)
c.1981+17T>G (n.1981+17T>G)
c.2122+17T>G (n.2122+17T>G)
dbSNP gnomAD v2
14g.50153053A>GCA7177118SOS2c.2161+17T>C (n.2161+17T>C)
c.2062+17T>C (n.2062+17T>C)
c.1981+17T>C (n.1981+17T>C)
c.2122+17T>C (n.2122+17T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.50153053_50153054delinsACCA2136066050SOS2c.2161+16_2161+17delinsGT (n.2161+16_2161+17delinsGT)
c.2062+16_2062+17delinsGT (n.2062+16_2062+17delinsGT)
c.1981+16_1981+17delinsGT (n.1981+16_1981+17delinsGT)
c.2122+16_2122+17delinsGT (n.2122+16_2122+17delinsGT)
14g.50153054C>ACA260731645SOS2c.2161+16G>T (n.2161+16G>T)
c.2062+16G>T (n.2062+16G>T)
c.1981+16G>T (n.1981+16G>T)
c.2122+16G>T (n.2122+16G>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50153054C=CA2136066052SOS2c.2161+16G= (n.2161+16G=)
c.2062+16G= (n.2062+16G=)
c.1981+16G= (n.1981+16G=)
c.2122+16G= (n.2122+16G=)
14g.50153054C>TCA2136066053SOS2c.2161+16G>A (n.2161+16G>A)
c.2062+16G>A (n.2062+16G>A)
c.1981+16G>A (n.1981+16G>A)
c.2122+16G>A (n.2122+16G>A)
dbSNP
14g.50153055delCA7177117SOS2c.2161+16del (n.2161+16del)
c.2062+16del (n.2062+16del)
c.1981+16del (n.1981+16del)
c.2122+16del (n.2122+16del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50153055C>ACA2136066055SOS2c.2161+15G>T (n.2161+15G>T)
c.2062+15G>T (n.2062+15G>T)
c.1981+15G>T (n.1981+15G>T)
c.2122+15G>T (n.2122+15G>T)
dbSNP gnomAD v4
14g.50153055C=CA2136066054SOS2c.2161+15G= (n.2161+15G=)
c.2062+15G= (n.2062+15G=)
c.1981+15G= (n.1981+15G=)
c.2122+15G= (n.2122+15G=)
14g.50153055C>GCA2624771434SOS2c.2161+15G>C (n.2161+15G>C)
c.2062+15G>C (n.2062+15G>C)
c.1981+15G>C (n.1981+15G>C)
c.2122+15G>C (n.2122+15G>C)
gnomAD v4
14g.50153056T>ACA7177119SOS2c.2161+14A>T (n.2161+14A>T)
c.2062+14A>T (n.2062+14A>T)
c.1981+14A>T (n.1981+14A>T)
c.2122+14A>T (n.2122+14A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.50153056T>CCA2624771437SOS2c.2161+14A>G (n.2161+14A>G)
c.2062+14A>G (n.2062+14A>G)
c.1981+14A>G (n.1981+14A>G)
c.2122+14A>G (n.2122+14A>G)
gnomAD v4
14g.50153056T=CA2136066056SOS2c.2161+14A= (n.2161+14A=)
c.2062+14A= (n.2062+14A=)
c.1981+14A= (n.1981+14A=)
c.2122+14A= (n.2122+14A=)
14g.50153057T>CCA2624771439SOS2c.2161+13A>G (n.2161+13A>G)
c.2062+13A>G (n.2062+13A>G)
c.1981+13A>G (n.1981+13A>G)
c.2122+13A>G (n.2122+13A>G)
gnomAD v4
14g.50153058T>CCA2624771442SOS2c.2161+12A>G (n.2161+12A>G)
c.2062+12A>G (n.2062+12A>G)
c.1981+12A>G (n.1981+12A>G)
c.2122+12A>G (n.2122+12A>G)
gnomAD v4
14g.50153058_50153063delinsTATATACA2136066057SOS2c.2161+7_2161+12delinsTATATA (n.2161+7_2161+12delinsTATATA)
c.2062+7_2062+12delinsTATATA (n.2062+7_2062+12delinsTATATA)
c.1981+7_1981+12delinsTATATA (n.1981+7_1981+12delinsTATATA)
c.2122+7_2122+12delinsTATATA (n.2122+7_2122+12delinsTATATA)
14g.50153059A>GCA2575520455SOS2c.2161+11T>C (n.2161+11T>C)
c.2062+11T>C (n.2062+11T>C)
c.1981+11T>C (n.1981+11T>C)
c.2122+11T>C (n.2122+11T>C)
14g.50153059A>TCA2624771444SOS2c.2161+11T>A (n.2161+11T>A)
c.2062+11T>A (n.2062+11T>A)
c.1981+11T>A (n.1981+11T>A)
c.2122+11T>A (n.2122+11T>A)
gnomAD v4
14g.50153064_50153068delCA7177120SOS2c.2161+7_2161+11del (n.2161+7_2161+11del)
c.2062+7_2062+11del (n.2062+7_2062+11del)
c.1981+7_1981+11del (n.1981+7_1981+11del)
c.2122+7_2122+11del (n.2122+7_2122+11del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50153060T>ACA2575520456SOS2c.2161+10A>T (n.2161+10A>T)
c.2062+10A>T (n.2062+10A>T)
c.1981+10A>T (n.1981+10A>T)
c.2122+10A>T (n.2122+10A>T)
14g.50153060T>CCA260731650SOS2c.2161+10A>G (n.2161+10A>G)
c.2062+10A>G (n.2062+10A>G)
c.1981+10A>G (n.1981+10A>G)
c.2122+10A>G (n.2122+10A>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50153060T=CA2136066058SOS2c.2161+10A= (n.2161+10A=)
c.2062+10A= (n.2062+10A=)
c.1981+10A= (n.1981+10A=)
c.2122+10A= (n.2122+10A=)
14g.50153061A>GCA2624771447SOS2c.2161+9T>C (n.2161+9T>C)
c.2062+9T>C (n.2062+9T>C)
c.1981+9T>C (n.1981+9T>C)
c.2122+9T>C (n.2122+9T>C)
gnomAD v4
14g.50153062T>ACA2624771448SOS2c.2161+8A>T (n.2161+8A>T)
c.2062+8A>T (n.2062+8A>T)
c.1981+8A>T (n.1981+8A>T)
c.2122+8A>T (n.2122+8A>T)
gnomAD v4
14g.50153062T>CCA2624771449SOS2c.2161+8A>G (n.2161+8A>G)
c.2062+8A>G (n.2062+8A>G)
c.1981+8A>G (n.1981+8A>G)
c.2122+8A>G (n.2122+8A>G)
gnomAD v4
14g.50153063A>GCA2624771451SOS2c.2161+7T>C (n.2161+7T>C)
c.2062+7T>C (n.2062+7T>C)
c.1981+7T>C (n.1981+7T>C)
c.2122+7T>C (n.2122+7T>C)
gnomAD v4
14g.50153064A>GCA2624771454SOS2c.2161+6T>C (n.2161+6T>C)
c.2062+6T>C (n.2062+6T>C)
c.1981+6T>C (n.1981+6T>C)
c.2122+6T>C (n.2122+6T>C)
gnomAD v4
14g.50153065T>CCA613848295SOS2c.2161+5A>G (n.2161+5A>G)
c.2062+5A>G (n.2062+5A>G)
c.1981+5A>G (n.1981+5A>G)
c.2122+5A>G (n.2122+5A>G)
dbSNP gnomAD v2 gnomAD v4
14g.50153065T=CA2136066059SOS2c.2161+5A= (n.2161+5A=)
c.2062+5A= (n.2062+5A=)
c.1981+5A= (n.1981+5A=)
c.2122+5A= (n.2122+5A=)
14g.50153066A=CA2136066060SOS2c.2161+4T= (n.2161+4T=)
c.2062+4T= (n.2062+4T=)
c.1981+4T= (n.1981+4T=)
c.2122+4T= (n.2122+4T=)
14g.50153066A>GCA2136066061SOS2c.2161+4T>C (n.2161+4T>C)
c.2062+4T>C (n.2062+4T>C)
c.1981+4T>C (n.1981+4T>C)
c.2122+4T>C (n.2122+4T>C)
dbSNP gnomAD v4
14g.50153067T>CCA2624771459SOS2c.2161+3A>G (n.2161+3A>G)
c.2062+3A>G (n.2062+3A>G)
c.1981+3A>G (n.1981+3A>G)
c.2122+3A>G (n.2122+3A>G)
gnomAD v4
14g.50153068A>CCA389644075SOS2c.2161+2T>G (n.2161+2T>G)
c.2062+2T>G (n.2062+2T>G)
c.1981+2T>G (n.1981+2T>G)
c.2122+2T>G (n.2122+2T>G)
14g.50153068A>GCA389644077SOS2c.2161+2T>C (n.2161+2T>C)
c.2062+2T>C (n.2062+2T>C)
c.1981+2T>C (n.1981+2T>C)
c.2122+2T>C (n.2122+2T>C)
gnomAD v4
14g.50153068A>TCA389644076SOS2c.2161+2T>A (n.2161+2T>A)
c.2062+2T>A (n.2062+2T>A)
c.1981+2T>A (n.1981+2T>A)
c.2122+2T>A (n.2122+2T>A)
14g.50153069C>ACA389644078SOS2c.2161+1G>T (n.2161+1G>T)
c.2062+1G>T (n.2062+1G>T)
c.1981+1G>T (n.1981+1G>T)
c.2122+1G>T (n.2122+1G>T)
14g.50153069C>GCA389644079SOS2c.2161+1G>C (n.2161+1G>C)
c.2062+1G>C (n.2062+1G>C)
c.1981+1G>C (n.1981+1G>C)
c.2122+1G>C (n.2122+1G>C)
14g.50153069C>TCA389644080SOS2c.2161+1G>A (n.2161+1G>A)
c.2062+1G>A (n.2062+1G>A)
c.1981+1G>A (n.1981+1G>A)
c.2122+1G>A (n.2122+1G>A)
14g.50153070C>ACA389644081SOS2c.2161G>T (p.Gly721Trp)
c.2062G>T (p.Gly688Trp)
c.1981G>T (p.Gly661Trp)
c.2122G>T (p.Gly708Trp)
14g.50153070C>GCA389644082SOS2c.2161G>C (p.Gly721Arg)
c.2062G>C (p.Gly688Arg)
c.1981G>C (p.Gly661Arg)
c.2122G>C (p.Gly708Arg)
14g.50153070C>TCA389644083SOS2c.2161G>A (p.Gly721Arg)
c.2062G>A (p.Gly688Arg)
c.1981G>A (p.Gly661Arg)
c.2122G>A (p.Gly708Arg)
gnomAD v4
14g.50153071T>ACA389644084SOS2c.2160A>T (p.Arg720Ser)
c.2061A>T (p.Arg687Ser)
c.1980A>T (p.Arg660Ser)
c.2121A>T (p.Arg707Ser)
14g.50153071T>CCA486175107SOS2c.2160A>G (p.Arg720=)
c.2061A>G (p.Arg687=)
c.1980A>G (p.Arg660=)
c.2121A>G (p.Arg707=)
gnomAD v4
14g.50153071T>GCA389644085SOS2c.2160A>C (p.Arg720Ser)
c.2061A>C (p.Arg687Ser)
c.1980A>C (p.Arg660Ser)
c.2121A>C (p.Arg707Ser)
14g.50153072C>ACA389644086SOS2c.2159G>T (p.Arg720Ile)
c.2060G>T (p.Arg687Ile)
c.1979G>T (p.Arg660Ile)
c.2120G>T (p.Arg707Ile)
gnomAD v4
14g.50153072C>GCA389644087SOS2c.2159G>C (p.Arg720Thr)
c.2060G>C (p.Arg687Thr)
c.1979G>C (p.Arg660Thr)
c.2120G>C (p.Arg707Thr)
14g.50153072C>TCA389644088SOS2c.2159G>A (p.Arg720Lys)
c.2060G>A (p.Arg687Lys)
c.1979G>A (p.Arg660Lys)
c.2120G>A (p.Arg707Lys)
14g.50153073T>ACA389644089SOS2c.2158A>T (p.Arg720Ter)
c.2059A>T (p.Arg687Ter)
c.1978A>T (p.Arg660Ter)
c.2119A>T (p.Arg707Ter)
14g.50153073T>CCA389644090SOS2c.2158A>G (p.Arg720Gly)
c.2059A>G (p.Arg687Gly)
c.1978A>G (p.Arg660Gly)
c.2119A>G (p.Arg707Gly)
gnomAD v4
14g.50153073T>GCA486175108SOS2c.2158A>C (p.Arg720=)
c.2059A>C (p.Arg687=)
c.1978A>C (p.Arg660=)
c.2119A>C (p.Arg707=)
14g.50153074delCA2624771463SOS2c.2158del (p.Arg720GlufsTer5)
c.2059del (p.Arg687GlufsTer5)
c.1978del (p.Arg660GlufsTer5)
c.2119del (p.Arg707GlufsTer5)
gnomAD v4
14g.50153074T>ACA486175109SOS2c.2157A>T (p.Val719=)
c.2058A>T (p.Val686=)
c.1977A>T (p.Val659=)
c.2118A>T (p.Val706=)
14g.50153074T>CCA486175110SOS2c.2157A>G (p.Val719=)
c.2058A>G (p.Val686=)
c.1977A>G (p.Val659=)
c.2118A>G (p.Val706=)
gnomAD v4
14g.50153074T>GCA486175111SOS2c.2157A>C (p.Val719=)
c.2058A>C (p.Val686=)
c.1977A>C (p.Val659=)
c.2118A>C (p.Val706=)
dbSNP
14g.50153075A>CCA389644093SOS2c.2156T>G (p.Val719Gly)
c.2057T>G (p.Val686Gly)
c.1976T>G (p.Val659Gly)
c.2117T>G (p.Val706Gly)
14g.50153075A>GCA389644091SOS2c.2156T>C (p.Val719Ala)
c.2057T>C (p.Val686Ala)
c.1976T>C (p.Val659Ala)
c.2117T>C (p.Val706Ala)
14g.50153075A>TCA389644092SOS2c.2156T>A (p.Val719Glu)
c.2057T>A (p.Val686Glu)
c.1976T>A (p.Val659Glu)
c.2117T>A (p.Val706Glu)
14g.50153076C>ACA389644094SOS2c.2155G>T (p.Val719Leu)
c.2056G>T (p.Val686Leu)
c.1975G>T (p.Val659Leu)
c.2116G>T (p.Val706Leu)
gnomAD v4
14g.50153076C=CA2136066062SOS2c.2155G= (p.Val719=)
c.2056G= (p.Val686=)
c.1975G= (p.Val659=)
c.2116G= (p.Val706=)
14g.50153076C>GCA389644095SOS2c.2155G>C (p.Val719Leu)
c.2056G>C (p.Val686Leu)
c.1975G>C (p.Val659Leu)
c.2116G>C (p.Val706Leu)
COSMIC COSMIC
14g.50153076C>TCA389644096SOS2c.2155G>A (p.Val719Ile)
c.2056G>A (p.Val686Ile)
c.1975G>A (p.Val659Ile)
c.2116G>A (p.Val706Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
14g.50153077A=CA2136066063SOS2c.2154T= (p.Ser718=)
c.2055T= (p.Ser685=)
c.1974T= (p.Ser658=)
c.2115T= (p.Ser705=)
14g.50153077A>CCA389644097SOS2c.2154T>G (p.Ser718Arg)
c.2055T>G (p.Ser685Arg)
c.1974T>G (p.Ser658Arg)
c.2115T>G (p.Ser705Arg)
14g.50153077A>GCA7177121SOS2c.2154T>C (p.Ser718=)
c.2055T>C (p.Ser685=)
c.1974T>C (p.Ser658=)
c.2115T>C (p.Ser705=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50153077A>TCA389644098SOS2c.2154T>A (p.Ser718Arg)
c.2055T>A (p.Ser685Arg)
c.1974T>A (p.Ser658Arg)
c.2115T>A (p.Ser705Arg)
14g.50153078C>ACA389644099SOS2c.2153G>T (p.Ser718Ile)
c.2054G>T (p.Ser685Ile)
c.1973G>T (p.Ser658Ile)
c.2114G>T (p.Ser705Ile)
14g.50153078C>GCA389644100SOS2c.2153G>C (p.Ser718Thr)
c.2054G>C (p.Ser685Thr)
c.1973G>C (p.Ser658Thr)
c.2114G>C (p.Ser705Thr)
14g.50153078C>TCA389644101SOS2c.2153G>A (p.Ser718Asn)
c.2054G>A (p.Ser685Asn)
c.1973G>A (p.Ser658Asn)
c.2114G>A (p.Ser705Asn)
14g.50153079T>ACA389644102SOS2c.2152A>T (p.Ser718Cys)
c.2053A>T (p.Ser685Cys)
c.1972A>T (p.Ser658Cys)
c.2113A>T (p.Ser705Cys)
14g.50153079T>CCA389644103SOS2c.2152A>G (p.Ser718Gly)
c.2053A>G (p.Ser685Gly)
c.1972A>G (p.Ser658Gly)
c.2113A>G (p.Ser705Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50153079T>GCA389644104SOS2c.2152A>C (p.Ser718Arg)
c.2053A>C (p.Ser685Arg)
c.1972A>C (p.Ser658Arg)
c.2113A>C (p.Ser705Arg)
14g.50153079T=CA2136066064SOS2c.2152A= (p.Ser718=)
c.2053A= (p.Ser685=)
c.1972A= (p.Ser658=)
c.2113A= (p.Ser705=)
14g.50153080T>ACA486175112SOS2c.2151A>T (p.Ser717=)
c.2052A>T (p.Ser684=)
c.1971A>T (p.Ser657=)
c.2112A>T (p.Ser704=)
14g.50153080T>CCA486175114SOS2c.2151A>G (p.Ser717=)
c.2052A>G (p.Ser684=)
c.1971A>G (p.Ser657=)
c.2112A>G (p.Ser704=)
gnomAD v4
14g.50153080T>GCA486175113SOS2c.2151A>C (p.Ser717=)
c.2052A>C (p.Ser684=)
c.1971A>C (p.Ser657=)
c.2112A>C (p.Ser704=)
14g.50153081G>ACA389644105SOS2c.2150C>T (p.Ser717Leu)
c.2051C>T (p.Ser684Leu)
c.1970C>T (p.Ser657Leu)
c.2111C>T (p.Ser704Leu)
gnomAD v4
14g.50153081G>CCA389644107SOS2c.2150C>G (p.Ser717Ter)
c.2051C>G (p.Ser684Ter)
c.1970C>G (p.Ser657Ter)
c.2111C>G (p.Ser704Ter)
14g.50153081G>TCA389644106SOS2c.2150C>A (p.Ser717Ter)
c.2051C>A (p.Ser684Ter)
c.1970C>A (p.Ser657Ter)
c.2111C>A (p.Ser704Ter)
gnomAD v4
14g.50153082A>CCA389644108SOS2c.2149T>G (p.Ser717Ala)
c.2050T>G (p.Ser684Ala)
c.1969T>G (p.Ser657Ala)
c.2110T>G (p.Ser704Ala)
14g.50153082A>GCA389644109SOS2c.2149T>C (p.Ser717Pro)
c.2050T>C (p.Ser684Pro)
c.1969T>C (p.Ser657Pro)
c.2110T>C (p.Ser704Pro)
gnomAD v4
14g.50153082A>TCA389644110SOS2c.2149T>A (p.Ser717Thr)
c.2050T>A (p.Ser684Thr)
c.1969T>A (p.Ser657Thr)
c.2110T>A (p.Ser704Thr)
14g.50153083A>CCA389644111SOS2c.2148T>G (p.Ile716Met)
c.2049T>G (p.Ile683Met)
c.1968T>G (p.Ile656Met)
c.2109T>G (p.Ile703Met)
ClinVar gnomAD v4
14g.50153083A>GCA486175115SOS2c.2148T>C (p.Ile716=)
c.2049T>C (p.Ile683=)
c.1968T>C (p.Ile656=)
c.2109T>C (p.Ile703=)
gnomAD v4
14g.50153083A>TCA486175116SOS2c.2148T>A (p.Ile716=)
c.2049T>A (p.Ile683=)
c.1968T>A (p.Ile656=)
c.2109T>A (p.Ile703=)
14g.50153084A>CCA389644112SOS2c.2147T>G (p.Ile716Ser)
c.2048T>G (p.Ile683Ser)
c.1967T>G (p.Ile656Ser)
c.2108T>G (p.Ile703Ser)
14g.50153084A>GCA389644113SOS2c.2147T>C (p.Ile716Thr)
c.2048T>C (p.Ile683Thr)
c.1967T>C (p.Ile656Thr)
c.2108T>C (p.Ile703Thr)
14g.50153084A>TCA389644114SOS2c.2147T>A (p.Ile716Asn)
c.2048T>A (p.Ile683Asn)
c.1967T>A (p.Ile656Asn)
c.2108T>A (p.Ile703Asn)
14g.50153085T>ACA389644116SOS2c.2146A>T (p.Ile716Phe)
c.2047A>T (p.Ile683Phe)
c.1966A>T (p.Ile656Phe)
c.2107A>T (p.Ile703Phe)
14g.50153085T>CCA389644115SOS2c.2146A>G (p.Ile716Val)
c.2047A>G (p.Ile683Val)
c.1966A>G (p.Ile656Val)
c.2107A>G (p.Ile703Val)
gnomAD v4
14g.50153085T>GCA7177122SOS2c.2146A>C (p.Ile716Leu)
c.2047A>C (p.Ile683Leu)
c.1966A>C (p.Ile656Leu)
c.2107A>C (p.Ile703Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50153085T=CA2136066065SOS2c.2146A= (p.Ile716=)
c.2047A= (p.Ile683=)
c.1966A= (p.Ile656=)
c.2107A= (p.Ile703=)
14g.50153086G>ACA486175117SOS2c.2145C>T (p.Phe715=)
c.2046C>T (p.Phe682=)
c.1965C>T (p.Phe655=)
c.2106C>T (p.Phe702=)
14g.50153086G>CCA389644117SOS2c.2145C>G (p.Phe715Leu)
c.2046C>G (p.Phe682Leu)
c.1965C>G (p.Phe655Leu)
c.2106C>G (p.Phe702Leu)
14g.50153086G>TCA389644118SOS2c.2145C>A (p.Phe715Leu)
c.2046C>A (p.Phe682Leu)
c.1965C>A (p.Phe655Leu)
c.2106C>A (p.Phe702Leu)
gnomAD v4
14g.50153087A>CCA389644119SOS2c.2144T>G (p.Phe715Cys)
c.2045T>G (p.Phe682Cys)
c.1964T>G (p.Phe655Cys)
c.2105T>G (p.Phe702Cys)
14g.50153087A>GCA389644120SOS2c.2144T>C (p.Phe715Ser)
c.2045T>C (p.Phe682Ser)
c.1964T>C (p.Phe655Ser)
c.2105T>C (p.Phe702Ser)
14g.50153087A>TCA389644121SOS2c.2144T>A (p.Phe715Tyr)
c.2045T>A (p.Phe682Tyr)
c.1964T>A (p.Phe655Tyr)
c.2105T>A (p.Phe702Tyr)
gnomAD v4
14g.50153088A>CCA389644122SOS2c.2143T>G (p.Phe715Val)
c.2044T>G (p.Phe682Val)
c.1963T>G (p.Phe655Val)
c.2104T>G (p.Phe702Val)
14g.50153088A>GCA389644124SOS2c.2143T>C (p.Phe715Leu)
c.2044T>C (p.Phe682Leu)
c.1963T>C (p.Phe655Leu)
c.2104T>C (p.Phe702Leu)
gnomAD v4
14g.50153088A>TCA389644123SOS2c.2143T>A (p.Phe715Ile)
c.2044T>A (p.Phe682Ile)
c.1963T>A (p.Phe655Ile)
c.2104T>A (p.Phe702Ile)
14g.50153089G>ACA486175118SOS2c.2142C>T (p.Ser714=)
c.2043C>T (p.Ser681=)
c.1962C>T (p.Ser654=)
c.2103C>T (p.Ser701=)
14g.50153089G>CCA486175119SOS2c.2142C>G (p.Ser714=)
c.2043C>G (p.Ser681=)
c.1962C>G (p.Ser654=)
c.2103C>G (p.Ser701=)
14g.50153089G>TCA486175120SOS2c.2142C>A (p.Ser714=)
c.2043C>A (p.Ser681=)
c.1962C>A (p.Ser654=)
c.2103C>A (p.Ser701=)
gnomAD v4
14g.50153090G>ACA389644125SOS2c.2141C>T (p.Ser714Phe)
c.2042C>T (p.Ser681Phe)
c.1961C>T (p.Ser654Phe)
c.2102C>T (p.Ser701Phe)
14g.50153090G>CCA389644126SOS2c.2141C>G (p.Ser714Cys)
c.2042C>G (p.Ser681Cys)
c.1961C>G (p.Ser654Cys)
c.2102C>G (p.Ser701Cys)
14g.50153090G>TCA389644127SOS2c.2141C>A (p.Ser714Tyr)
c.2042C>A (p.Ser681Tyr)
c.1961C>A (p.Ser654Tyr)
c.2102C>A (p.Ser701Tyr)
gnomAD v4
14g.50153091A>CCA389644128SOS2c.2140T>G (p.Ser714Ala)
c.2041T>G (p.Ser681Ala)
c.1960T>G (p.Ser654Ala)
c.2101T>G (p.Ser701Ala)
14g.50153091A>GCA389644129SOS2c.2140T>C (p.Ser714Pro)
c.2041T>C (p.Ser681Pro)
c.1960T>C (p.Ser654Pro)
c.2101T>C (p.Ser701Pro)
14g.50153091A>TCA389644130SOS2c.2140T>A (p.Ser714Thr)
c.2041T>A (p.Ser681Thr)
c.1960T>A (p.Ser654Thr)
c.2101T>A (p.Ser701Thr)
14g.50153092T>ACA389644131SOS2c.2139A>T (p.Glu713Asp)
c.2040A>T (p.Glu680Asp)
c.1959A>T (p.Glu653Asp)
c.2100A>T (p.Glu700Asp)
14g.50153092T>CCA486175121SOS2c.2139A>G (p.Glu713=)
c.2040A>G (p.Glu680=)
c.1959A>G (p.Glu653=)
c.2100A>G (p.Glu700=)
gnomAD v4
14g.50153092T>GCA389644132SOS2c.2139A>C (p.Glu713Asp)
c.2040A>C (p.Glu680Asp)
c.1959A>C (p.Glu653Asp)
c.2100A>C (p.Glu700Asp)
14g.50153093T>ACA389644133SOS2c.2138A>T (p.Glu713Val)
c.2039A>T (p.Glu680Val)
c.1958A>T (p.Glu653Val)
c.2099A>T (p.Glu700Val)
14g.50153093T>CCA389644134SOS2c.2138A>G (p.Glu713Gly)
c.2039A>G (p.Glu680Gly)
c.1958A>G (p.Glu653Gly)
c.2099A>G (p.Glu700Gly)
gnomAD v4
14g.50153093T>GCA389644135SOS2c.2138A>C (p.Glu713Ala)
c.2039A>C (p.Glu680Ala)
c.1958A>C (p.Glu653Ala)
c.2099A>C (p.Glu700Ala)
14g.50153094C>ACA389644136SOS2c.2137G>T (p.Glu713Ter)
c.2038G>T (p.Glu680Ter)
c.1957G>T (p.Glu653Ter)
c.2098G>T (p.Glu700Ter)
14g.50153094C=CA2136066066SOS2c.2137G= (p.Glu713=)
c.2038G= (p.Glu680=)
c.1957G= (p.Glu653=)
c.2098G= (p.Glu700=)
14g.50153094C>GCA7177123SOS2c.2137G>C (p.Glu713Gln)
c.2038G>C (p.Glu680Gln)
c.1957G>C (p.Glu653Gln)
c.2098G>C (p.Glu700Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50153094C>TCA389644137SOS2c.2137G>A (p.Glu713Lys)
c.2038G>A (p.Glu680Lys)
c.1957G>A (p.Glu653Lys)
c.2098G>A (p.Glu700Lys)
14g.50153095T>ACA486175122SOS2c.2136A>T (p.Leu712=)
c.2037A>T (p.Leu679=)
c.1956A>T (p.Leu652=)
c.2097A>T (p.Leu699=)
14g.50153095T>CCA7177124SOS2c.2136A>G (p.Leu712=)
c.2037A>G (p.Leu679=)
c.1956A>G (p.Leu652=)
c.2097A>G (p.Leu699=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.50153095T>GCA486175123SOS2c.2136A>C (p.Leu712=)
c.2037A>C (p.Leu679=)
c.1956A>C (p.Leu652=)
c.2097A>C (p.Leu699=)
14g.50153095T=CA2136066067SOS2c.2136A= (p.Leu712=)
c.2037A= (p.Leu679=)
c.1956A= (p.Leu652=)
c.2097A= (p.Leu699=)
14g.50153096A>CCA389644138SOS2c.2135T>G (p.Leu712Arg)
c.2036T>G (p.Leu679Arg)
c.1955T>G (p.Leu652Arg)
c.2096T>G (p.Leu699Arg)
14g.50153096A>GCA389644139SOS2c.2135T>C (p.Leu712Pro)
c.2036T>C (p.Leu679Pro)
c.1955T>C (p.Leu652Pro)
c.2096T>C (p.Leu699Pro)
gnomAD v4
14g.50153096A>TCA389644140SOS2c.2135T>A (p.Leu712Gln)
c.2036T>A (p.Leu679Gln)
c.1955T>A (p.Leu652Gln)
c.2096T>A (p.Leu699Gln)
14g.50153097G>ACA486175124SOS2c.2134C>T (p.Leu712=)
c.2035C>T (p.Leu679=)
c.1954C>T (p.Leu652=)
c.2095C>T (p.Leu699=)
gnomAD v4
14g.50153097G>CCA389644141SOS2c.2134C>G (p.Leu712Val)
c.2035C>G (p.Leu679Val)
c.1954C>G (p.Leu652Val)
c.2095C>G (p.Leu699Val)
14g.50153097G>TCA389644142SOS2c.2134C>A (p.Leu712Ile)
c.2035C>A (p.Leu679Ile)
c.1954C>A (p.Leu652Ile)
c.2095C>A (p.Leu699Ile)
gnomAD v4
14g.50153098T>ACA389644143SOS2c.2133A>T (p.Arg711Ser)
c.2034A>T (p.Arg678Ser)
c.1953A>T (p.Arg651Ser)
c.2094A>T (p.Arg698Ser)
14g.50153098T>CCA486175125SOS2c.2133A>G (p.Arg711=)
c.2034A>G (p.Arg678=)
c.1953A>G (p.Arg651=)
c.2094A>G (p.Arg698=)
dbSNP gnomAD v4
14g.50153098T>GCA389644144SOS2c.2133A>C (p.Arg711Ser)
c.2034A>C (p.Arg678Ser)
c.1953A>C (p.Arg651Ser)
c.2094A>C (p.Arg698Ser)
14g.50153099C>ACA389644145SOS2c.2132G>T (p.Arg711Ile)
c.2033G>T (p.Arg678Ile)
c.1952G>T (p.Arg651Ile)
c.2093G>T (p.Arg698Ile)
14g.50153099C=CA2136066068SOS2c.2132G= (p.Arg711=)
c.2033G= (p.Arg678=)
c.1952G= (p.Arg651=)
c.2093G= (p.Arg698=)
14g.50153099C>GCA260731659SOS2c.2132G>C (p.Arg711Thr)
c.2033G>C (p.Arg678Thr)
c.1952G>C (p.Arg651Thr)
c.2093G>C (p.Arg698Thr)
dbSNP
14g.50153099C>TCA389644146SOS2c.2132G>A (p.Arg711Lys)
c.2033G>A (p.Arg678Lys)
c.1952G>A (p.Arg651Lys)
c.2093G>A (p.Arg698Lys)
14g.50153100T>ACA389644147SOS2c.2131A>T (p.Arg711Ter)
c.2032A>T (p.Arg678Ter)
c.1951A>T (p.Arg651Ter)
c.2092A>T (p.Arg698Ter)
14g.50153100T>CCA389644148SOS2c.2131A>G (p.Arg711Gly)
c.2032A>G (p.Arg678Gly)
c.1951A>G (p.Arg651Gly)
c.2092A>G (p.Arg698Gly)
14g.50153100T>GCA486175126SOS2c.2131A>C (p.Arg711=)
c.2032A>C (p.Arg678=)
c.1951A>C (p.Arg651=)
c.2092A>C (p.Arg698=)
14g.50153101T>ACA389644149SOS2c.2130A>T (p.Glu710Asp)
c.2031A>T (p.Glu677Asp)
c.1950A>T (p.Glu650Asp)
c.2091A>T (p.Glu697Asp)
14g.50153101T>CCA486175127SOS2c.2130A>G (p.Glu710=)
c.2031A>G (p.Glu677=)
c.1950A>G (p.Glu650=)
c.2091A>G (p.Glu697=)
14g.50153101T>GCA389644150SOS2c.2130A>C (p.Glu710Asp)
c.2031A>C (p.Glu677Asp)
c.1950A>C (p.Glu650Asp)
c.2091A>C (p.Glu697Asp)
14g.50153102T>ACA389644151SOS2c.2129A>T (p.Glu710Val)
c.2030A>T (p.Glu677Val)
c.1949A>T (p.Glu650Val)
c.2090A>T (p.Glu697Val)
14g.50153102T>CCA260731664SOS2c.2129A>G (p.Glu710Gly)
c.2030A>G (p.Glu677Gly)
c.1949A>G (p.Glu650Gly)
c.2090A>G (p.Glu697Gly)
dbSNP gnomAD v4
14g.50153102T>GCA389644152SOS2c.2129A>C (p.Glu710Ala)
c.2030A>C (p.Glu677Ala)
c.1949A>C (p.Glu650Ala)
c.2090A>C (p.Glu697Ala)
14g.50153102T=CA2136066069SOS2c.2129A= (p.Glu710=)
c.2030A= (p.Glu677=)
c.1949A= (p.Glu650=)
c.2090A= (p.Glu697=)
14g.50153103C>ACA389644153SOS2c.2128G>T (p.Glu710Ter)
c.2029G>T (p.Glu677Ter)
c.1948G>T (p.Glu650Ter)
c.2089G>T (p.Glu697Ter)
14g.50153103C=CA2136066070SOS2c.2128G= (p.Glu710=)
c.2029G= (p.Glu677=)
c.1948G= (p.Glu650=)
c.2089G= (p.Glu697=)
14g.50153103C>GCA7177125SOS2c.2128G>C (p.Glu710Gln)
c.2029G>C (p.Glu677Gln)
c.1948G>C (p.Glu650Gln)
c.2089G>C (p.Glu697Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.50153103C>TCA389644154SOS2c.2128G>A (p.Glu710Lys)
c.2029G>A (p.Glu677Lys)
c.1948G>A (p.Glu650Lys)
c.2089G>A (p.Glu697Lys)
dbSNP gnomAD v3 gnomAD v4
14g.50153104A>CCA486175128SOS2c.2127T>G (p.Leu709=)
c.2028T>G (p.Leu676=)
c.1947T>G (p.Leu649=)
c.2088T>G (p.Leu696=)
14g.50153104A>GCA486175129SOS2c.2127T>C (p.Leu709=)
c.2028T>C (p.Leu676=)
c.1947T>C (p.Leu649=)
c.2088T>C (p.Leu696=)
gnomAD v4
14g.50153104A>TCA486175130SOS2c.2127T>A (p.Leu709=)
c.2028T>A (p.Leu676=)
c.1947T>A (p.Leu649=)
c.2088T>A (p.Leu696=)
14g.50153105delCA2575520457SOS2c.2127del (p.Glu710LysfsTer3)
c.2028del (p.Glu677LysfsTer3)
c.1947del (p.Glu650LysfsTer3)
c.2088del (p.Glu697LysfsTer3)
14g.50153105A>CCA389644155SOS2c.2126T>G (p.Leu709Arg)
c.2027T>G (p.Leu676Arg)
c.1946T>G (p.Leu649Arg)
c.2087T>G (p.Leu696Arg)
14g.50153105A>GCA389644156SOS2c.2126T>C (p.Leu709Pro)
c.2027T>C (p.Leu676Pro)
c.1946T>C (p.Leu649Pro)
c.2087T>C (p.Leu696Pro)
gnomAD v4
14g.50153105A>TCA389644157SOS2c.2126T>A (p.Leu709His)
c.2027T>A (p.Leu676His)
c.1946T>A (p.Leu649His)
c.2087T>A (p.Leu696His)
14g.50153106G>ACA389644158SOS2c.2125C>T (p.Leu709Phe)
c.2026C>T (p.Leu676Phe)
c.1945C>T (p.Leu649Phe)
c.2086C>T (p.Leu696Phe)
14g.50153106G>CCA389644159SOS2c.2125C>G (p.Leu709Val)
c.2026C>G (p.Leu676Val)
c.1945C>G (p.Leu649Val)
c.2086C>G (p.Leu696Val)
14g.50153106G>TCA389644160SOS2c.2125C>A (p.Leu709Ile)
c.2026C>A (p.Leu676Ile)
c.1945C>A (p.Leu649Ile)
c.2086C>A (p.Leu696Ile)
gnomAD v4
14g.50153107C>ACA389644161SOS2c.2124G>T (p.Leu708Phe)
c.2025G>T (p.Leu675Phe)
c.1944G>T (p.Leu648Phe)
c.2085G>T (p.Leu695Phe)
14g.50153107C>GCA389644162SOS2c.2124G>C (p.Leu708Phe)
c.2025G>C (p.Leu675Phe)
c.1944G>C (p.Leu648Phe)
c.2085G>C (p.Leu695Phe)
gnomAD v4
14g.50153107C>TCA486175131SOS2c.2124G>A (p.Leu708=)
c.2025G>A (p.Leu675=)
c.1944G>A (p.Leu648=)
c.2085G>A (p.Leu695=)
gnomAD v4
14g.50153108A>CCA389644163SOS2c.2123T>G (p.Leu708Trp)
c.2024T>G (p.Leu675Trp)
c.1943T>G (p.Leu648Trp)
c.2084T>G (p.Leu695Trp)
14g.50153108A>GCA389644164SOS2c.2123T>C (p.Leu708Ser)
c.2024T>C (p.Leu675Ser)
c.1943T>C (p.Leu648Ser)
c.2084T>C (p.Leu695Ser)
14g.50153108A>TCA389644165SOS2c.2123T>A (p.Leu708Ter)
c.2024T>A (p.Leu675Ter)
c.1943T>A (p.Leu648Ter)
c.2084T>A (p.Leu695Ter)
14g.50153109A>CCA389644166SOS2c.2122T>G (p.Leu708Val)
c.2023T>G (p.Leu675Val)
c.1942T>G (p.Leu648Val)
c.2083T>G (p.Leu695Val)
14g.50153109A>GCA486175132SOS2c.2122T>C (p.Leu708=)
c.2023T>C (p.Leu675=)
c.1942T>C (p.Leu648=)
c.2083T>C (p.Leu695=)
14g.50153109A>TCA389644167SOS2c.2122T>A (p.Leu708Met)
c.2023T>A (p.Leu675Met)
c.1942T>A (p.Leu648Met)
c.2083T>A (p.Leu695Met)
14g.50153110T>ACA389644168SOS2c.2121A>T (p.Glu707Asp)
c.2022A>T (p.Glu674Asp)
c.1941A>T (p.Glu647Asp)
c.2082A>T (p.Glu694Asp)
14g.50153110T>CCA486175133SOS2c.2121A>G (p.Glu707=)
c.2022A>G (p.Glu674=)
c.1941A>G (p.Glu647=)
c.2082A>G (p.Glu694=)
14g.50153110T>GCA389644169SOS2c.2121A>C (p.Glu707Asp)
c.2022A>C (p.Glu674Asp)
c.1941A>C (p.Glu647Asp)
c.2082A>C (p.Glu694Asp)
14g.50153111T>ACA389644171SOS2c.2120A>T (p.Glu707Val)
c.2021A>T (p.Glu674Val)
c.1940A>T (p.Glu647Val)
c.2081A>T (p.Glu694Val)
14g.50153111T>CCA7177126SOS2c.2120A>G (p.Glu707Gly)
c.2021A>G (p.Glu674Gly)
c.1940A>G (p.Glu647Gly)
c.2081A>G (p.Glu694Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50153111T>GCA389644170SOS2c.2120A>C (p.Glu707Ala)
c.2021A>C (p.Glu674Ala)
c.1940A>C (p.Glu647Ala)
c.2081A>C (p.Glu694Ala)
14g.50153111T=CA2136066071SOS2c.2120A= (p.Glu707=)
c.2021A= (p.Glu674=)
c.1940A= (p.Glu647=)
c.2081A= (p.Glu694=)
14g.50153112C>ACA389644172SOS2c.2119G>T (p.Glu707Ter)
c.2020G>T (p.Glu674Ter)
c.1939G>T (p.Glu647Ter)
c.2080G>T (p.Glu694Ter)
14g.50153112C>GCA389644173SOS2c.2119G>C (p.Glu707Gln)
c.2020G>C (p.Glu674Gln)
c.1939G>C (p.Glu647Gln)
c.2080G>C (p.Glu694Gln)
14g.50153112C>TCA389644174SOS2c.2119G>A (p.Glu707Lys)
c.2020G>A (p.Glu674Lys)
c.1939G>A (p.Glu647Lys)
c.2080G>A (p.Glu694Lys)
14g.50153113C>ACA389644175SOS2c.2118G>T (p.Leu706Phe)
c.2019G>T (p.Leu673Phe)
c.1938G>T (p.Leu646Phe)
c.2079G>T (p.Leu693Phe)
14g.50153113C>GCA389644176SOS2c.2118G>C (p.Leu706Phe)
c.2019G>C (p.Leu673Phe)
c.1938G>C (p.Leu646Phe)
c.2079G>C (p.Leu693Phe)
14g.50153113C>TCA486175134SOS2c.2118G>A (p.Leu706=)
c.2019G>A (p.Leu673=)
c.1938G>A (p.Leu646=)
c.2079G>A (p.Leu693=)
ClinVar dbSNP
14g.50153114A>CCA389644179SOS2c.2117T>G (p.Leu706Trp)
c.2018T>G (p.Leu673Trp)
c.1937T>G (p.Leu646Trp)
c.2078T>G (p.Leu693Trp)
14g.50153114A>GCA389644177SOS2c.2117T>C (p.Leu706Ser)
c.2018T>C (p.Leu673Ser)
c.1937T>C (p.Leu646Ser)
c.2078T>C (p.Leu693Ser)
14g.50153114A>TCA389644178SOS2c.2117T>A (p.Leu706Ter)
c.2018T>A (p.Leu673Ter)
c.1937T>A (p.Leu646Ter)
c.2078T>A (p.Leu693Ter)
14g.50153115A>CCA389644180SOS2c.2116T>G (p.Leu706Val)
c.2017T>G (p.Leu673Val)
c.1936T>G (p.Leu646Val)
c.2077T>G (p.Leu693Val)
14g.50153115A>GCA486175135SOS2c.2116T>C (p.Leu706=)
c.2017T>C (p.Leu673=)
c.1936T>C (p.Leu646=)
c.2077T>C (p.Leu693=)
14g.50153115A>TCA389644181SOS2c.2116T>A (p.Leu706Met)
c.2017T>A (p.Leu673Met)
c.1936T>A (p.Leu646Met)
c.2077T>A (p.Leu693Met)
14g.50153116G>ACA7177127SOS2c.2115C>T (p.Asp705=)
c.2016C>T (p.Asp672=)
c.1935C>T (p.Asp645=)
c.2076C>T (p.Asp692=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50153116G>CCA389644182SOS2c.2115C>G (p.Asp705Glu)
c.2016C>G (p.Asp672Glu)
c.1935C>G (p.Asp645Glu)
c.2076C>G (p.Asp692Glu)
14g.50153116G=CA2136066072SOS2c.2115C= (p.Asp705=)
c.2016C= (p.Asp672=)
c.1935C= (p.Asp645=)
c.2076C= (p.Asp692=)
14g.50153116G>TCA389644183SOS2c.2115C>A (p.Asp705Glu)
c.2016C>A (p.Asp672Glu)
c.1935C>A (p.Asp645Glu)
c.2076C>A (p.Asp692Glu)
gnomAD v4
14g.50153117T>ACA389644184SOS2c.2114A>T (p.Asp705Val)
c.2015A>T (p.Asp672Val)
c.1934A>T (p.Asp645Val)
c.2075A>T (p.Asp692Val)
14g.50153117T>CCA389644185SOS2c.2114A>G (p.Asp705Gly)
c.2015A>G (p.Asp672Gly)
c.1934A>G (p.Asp645Gly)
c.2075A>G (p.Asp692Gly)
14g.50153117T>GCA389644186SOS2c.2114A>C (p.Asp705Ala)
c.2015A>C (p.Asp672Ala)
c.1934A>C (p.Asp645Ala)
c.2075A>C (p.Asp692Ala)
14g.50153118C>ACA16042859SOS2c.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
14g.50153118C=CA2136066073SOS2c.2113G= (p.Asp705=)
c.2014G= (p.Asp672=)
c.1933G= (p.Asp645=)
c.2074G= (p.Asp692=)
14g.50153118C>GCA389644187SOS2c.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
14g.50153118C>TCA389644188SOS2c.2113G>A (p.Asp705Asn)
c.2014G>A (p.Asp672Asn)
c.1933G>A (p.Asp645Asn)
c.2074G>A (p.Asp692Asn)
14g.50153119T>ACA389644189SOS2c.2112A>T (p.Arg704Ser)
c.2013A>T (p.Arg671Ser)
c.1932A>T (p.Arg644Ser)
c.2073A>T (p.Arg691Ser)
14g.50153119T>CCA486175136SOS2c.2112A>G (p.Arg704=)
c.2013A>G (p.Arg671=)
c.1932A>G (p.Arg644=)
c.2073A>G (p.Arg691=)
14g.50153119T>GCA389644190SOS2c.2112A>C (p.Arg704Ser)
c.2013A>C (p.Arg671Ser)
c.1932A>C (p.Arg644Ser)
c.2073A>C (p.Arg691Ser)
gnomAD v4
14g.50153120C>ACA389644191SOS2c.2111G>T (p.Arg704Ile)
c.2012G>T (p.Arg671Ile)
c.1931G>T (p.Arg644Ile)
c.2072G>T (p.Arg691Ile)
14g.50153120C>GCA389644193SOS2c.2111G>C (p.Arg704Thr)
c.2012G>C (p.Arg671Thr)
c.1931G>C (p.Arg644Thr)
c.2072G>C (p.Arg691Thr)
14g.50153120C>TCA389644192SOS2c.2111G>A (p.Arg704Lys)
c.2012G>A (p.Arg671Lys)
c.1931G>A (p.Arg644Lys)
c.2072G>A (p.Arg691Lys)
14g.50153121T>ACA389644194SOS2c.2110A>T (p.Arg704Ter)
c.2011A>T (p.Arg671Ter)
c.1930A>T (p.Arg644Ter)
c.2071A>T (p.Arg691Ter)
14g.50153121T>CCA389644195SOS2c.2110A>G (p.Arg704Gly)
c.2011A>G (p.Arg671Gly)
c.1930A>G (p.Arg644Gly)
c.2071A>G (p.Arg691Gly)
14g.50153121T>GCA486175137SOS2c.2110A>C (p.Arg704=)
c.2011A>C (p.Arg671=)
c.1930A>C (p.Arg644=)
c.2071A>C (p.Arg691=)
14g.50153122T>ACA389644196SOS2c.2109A>T (p.Glu703Asp)
c.2010A>T (p.Glu670Asp)
c.1929A>T (p.Glu643Asp)
c.2070A>T (p.Glu690Asp)
14g.50153122T>CCA486175138SOS2c.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
14g.50153122T>GCA389644197SOS2c.2109A>C (p.Glu703Asp)
c.2010A>C (p.Glu670Asp)
c.1929A>C (p.Glu643Asp)
c.2070A>C (p.Glu690Asp)
14g.50153122T=CA2136066074SOS2c.2109A= (p.Glu703=)
c.2010A= (p.Glu670=)
c.1929A= (p.Glu643=)
c.2070A= (p.Glu690=)
14g.50153123T>ACA389644198SOS2c.2108A>T (p.Glu703Val)
c.2009A>T (p.Glu670Val)
c.1928A>T (p.Glu643Val)
c.2069A>T (p.Glu690Val)
14g.50153123T>CCA389644199SOS2c.2108A>G (p.Glu703Gly)
c.2009A>G (p.Glu670Gly)
c.1928A>G (p.Glu643Gly)
c.2069A>G (p.Glu690Gly)
14g.50153123T>GCA389644200SOS2c.2108A>C (p.Glu703Ala)
c.2009A>C (p.Glu670Ala)
c.1928A>C (p.Glu643Ala)
c.2069A>C (p.Glu690Ala)
14g.50153124C>ACA389644201SOS2c.2107G>T (p.Glu703Ter)
c.2008G>T (p.Glu670Ter)
c.1927G>T (p.Glu643Ter)
c.2068G>T (p.Glu690Ter)
gnomAD v4
14g.50153124C>GCA389644202SOS2c.2107G>C (p.Glu703Gln)
c.2008G>C (p.Glu670Gln)
c.1927G>C (p.Glu643Gln)
c.2068G>C (p.Glu690Gln)
14g.50153124C>TCA389644203SOS2c.2107G>A (p.Glu703Lys)
c.2008G>A (p.Glu670Lys)
c.1927G>A (p.Glu643Lys)
c.2068G>A (p.Glu690Lys)
14g.50153125A=CA2136066075SOS2c.2106T= (p.Phe702=)
c.2007T= (p.Phe669=)
c.1926T= (p.Phe642=)
c.2067T= (p.Phe689=)
14g.50153125A>CCA389644204SOS2c.2106T>G (p.Phe702Leu)
c.2007T>G (p.Phe669Leu)
c.1926T>G (p.Phe642Leu)
c.2067T>G (p.Phe689Leu)
14g.50153125A>GCA486175139SOS2c.2106T>C (p.Phe702=)
c.2007T>C (p.Phe669=)
c.1926T>C (p.Phe642=)
c.2067T>C (p.Phe689=)
ClinVar dbSNP gnomAD v4
14g.50153125A>TCA389644205SOS2c.2106T>A (p.Phe702Leu)
c.2007T>A (p.Phe669Leu)
c.1926T>A (p.Phe642Leu)
c.2067T>A (p.Phe689Leu)
14g.50153126A>CCA389644207SOS2c.2105T>G (p.Phe702Cys)
c.2006T>G (p.Phe669Cys)
c.1925T>G (p.Phe642Cys)
c.2066T>G (p.Phe689Cys)
14g.50153126A>GCA389644208SOS2c.2105T>C (p.Phe702Ser)
c.2006T>C (p.Phe669Ser)
c.1925T>C (p.Phe642Ser)
c.2066T>C (p.Phe689Ser)
14g.50153126A>TCA389644206SOS2c.2105T>A (p.Phe702Tyr)
c.2006T>A (p.Phe669Tyr)
c.1925T>A (p.Phe642Tyr)
c.2066T>A (p.Phe689Tyr)
gnomAD v4
14g.50153127A>CCA389644209SOS2c.2104T>G (p.Phe702Val)
c.2005T>G (p.Phe669Val)
c.1924T>G (p.Phe642Val)
c.2065T>G (p.Phe689Val)
14g.50153127A>GCA389644210SOS2c.2104T>C (p.Phe702Leu)
c.2005T>C (p.Phe669Leu)
c.1924T>C (p.Phe642Leu)
c.2065T>C (p.Phe689Leu)
ClinVar dbSNP
14g.50153127A>TCA389644211SOS2c.2104T>A (p.Phe702Ile)
c.2005T>A (p.Phe669Ile)
c.1924T>A (p.Phe642Ile)
c.2065T>A (p.Phe689Ile)
14g.50153128G>ACA486175140SOS2c.2103C>T (p.Asp701=)
c.2004C>T (p.Asp668=)
c.1923C>T (p.Asp641=)
c.2064C>T (p.Asp688=)
gnomAD v4
14g.50153128G>CCA389644212SOS2c.2103C>G (p.Asp701Glu)
c.2004C>G (p.Asp668Glu)
c.1923C>G (p.Asp641Glu)
c.2064C>G (p.Asp688Glu)
gnomAD v4
14g.50153128G>TCA389644213SOS2c.2103C>A (p.Asp701Glu)
c.2004C>A (p.Asp668Glu)
c.1923C>A (p.Asp641Glu)
c.2064C>A (p.Asp688Glu)
14g.50153129T>ACA389644216SOS2c.2102A>T (p.Asp701Val)
c.2003A>T (p.Asp668Val)
c.1922A>T (p.Asp641Val)
c.2063A>T (p.Asp688Val)
14g.50153129T>CCA389644214SOS2c.2102A>G (p.Asp701Gly)
c.2003A>G (p.Asp668Gly)
c.1922A>G (p.Asp641Gly)
c.2063A>G (p.Asp688Gly)
14g.50153129T>GCA389644215SOS2c.2102A>C (p.Asp701Ala)
c.2003A>C (p.Asp668Ala)
c.1922A>C (p.Asp641Ala)
c.2063A>C (p.Asp688Ala)
14g.50153130C>ACA389644217SOS2c.2101G>T (p.Asp701Tyr)
c.2002G>T (p.Asp668Tyr)
c.1921G>T (p.Asp641Tyr)
c.2062G>T (p.Asp688Tyr)
14g.50153130C>GCA389644218SOS2c.2101G>C (p.Asp701His)
c.2002G>C (p.Asp668His)
c.1921G>C (p.Asp641His)
c.2062G>C (p.Asp688His)
14g.50153130C>TCA389644219SOS2c.2101G>A (p.Asp701Asn)
c.2002G>A (p.Asp668Asn)
c.1921G>A (p.Asp641Asn)
c.2062G>A (p.Asp688Asn)
14g.50153131A>CCA389644220SOS2c.2100T>G (p.Tyr700Ter)
c.2001T>G (p.Tyr667Ter)
c.1920T>G (p.Tyr640Ter)
c.2061T>G (p.Tyr687Ter)
14g.50153131A>GCA486175141SOS2c.2100T>C (p.Tyr700=)
c.2001T>C (p.Tyr667=)
c.1920T>C (p.Tyr640=)
c.2061T>C (p.Tyr687=)
gnomAD v4
14g.50153131A>TCA389644221SOS2c.2100T>A (p.Tyr700Ter)
c.2001T>A (p.Tyr667Ter)
c.1920T>A (p.Tyr640Ter)
c.2061T>A (p.Tyr687Ter)
gnomAD v4
14g.50153132T>ACA389644222SOS2c.2099A>T (p.Tyr700Phe)
c.2000A>T (p.Tyr667Phe)
c.1919A>T (p.Tyr640Phe)
c.2060A>T (p.Tyr687Phe)
14g.50153132T>CCA7177128SOS2c.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
14g.50153132T>GCA389644223SOS2c.2099A>C (p.Tyr700Ser)
c.2000A>C (p.Tyr667Ser)
c.1919A>C (p.Tyr640Ser)
c.2060A>C (p.Tyr687Ser)
14g.50153132T=CA2136066076SOS2c.2099A= (p.Tyr700=)
c.2000A= (p.Tyr667=)
c.1919A= (p.Tyr640=)
c.2060A= (p.Tyr687=)
14g.50153133A>CCA389644224SOS2c.2098T>G (p.Tyr700Asp)
c.1999T>G (p.Tyr667Asp)
c.1918T>G (p.Tyr640Asp)
c.2059T>G (p.Tyr687Asp)
14g.50153133A>GCA389644226SOS2c.2098T>C (p.Tyr700His)
c.1999T>C (p.Tyr667His)
c.1918T>C (p.Tyr640His)
c.2059T>C (p.Tyr687His)
14g.50153133A>TCA389644225SOS2c.2098T>A (p.Tyr700Asn)
c.1999T>A (p.Tyr667Asn)
c.1918T>A (p.Tyr640Asn)
c.2059T>A (p.Tyr687Asn)
14g.50153137delCA2624771480SOS2c.2098del (p.Tyr700MetfsTer13)
c.1999del (p.Tyr667MetfsTer13)
c.1918del (p.Tyr640MetfsTer13)
c.2059del (p.Tyr687MetfsTer13)
gnomAD v4
14g.50153134A>CCA389644227SOS2c.2097T>G (p.Phe699Leu)
c.1998T>G (p.Phe666Leu)
c.1917T>G (p.Phe639Leu)
c.2058T>G (p.Phe686Leu)
14g.50153134A>GCA486175142SOS2c.2097T>C (p.Phe699=)
c.1998T>C (p.Phe666=)
c.1917T>C (p.Phe639=)
c.2058T>C (p.Phe686=)
14g.50153134A>TCA389644228SOS2c.2097T>A (p.Phe699Leu)
c.1998T>A (p.Phe666Leu)
c.1917T>A (p.Phe639Leu)
c.2058T>A (p.Phe686Leu)
14g.50153135A>CCA389644229SOS2c.2096T>G (p.Phe699Cys)
c.1997T>G (p.Phe666Cys)
c.1916T>G (p.Phe639Cys)
c.2057T>G (p.Phe686Cys)
14g.50153135A>GCA389644230SOS2c.2096T>C (p.Phe699Ser)
c.1997T>C (p.Phe666Ser)
c.1916T>C (p.Phe639Ser)
c.2057T>C (p.Phe686Ser)
14g.50153135A>TCA389644231SOS2c.2096T>A (p.Phe699Tyr)
c.1997T>A (p.Phe666Tyr)
c.1916T>A (p.Phe639Tyr)
c.2057T>A (p.Phe686Tyr)
14g.50153136A>CCA389644232SOS2c.2095T>G (p.Phe699Val)
c.1996T>G (p.Phe666Val)
c.1915T>G (p.Phe639Val)
c.2056T>G (p.Phe686Val)
14g.50153136A>GCA389644233SOS2c.2095T>C (p.Phe699Leu)
c.1996T>C (p.Phe666Leu)
c.1915T>C (p.Phe639Leu)
c.2056T>C (p.Phe686Leu)
14g.50153136A>TCA389644234SOS2c.2095T>A (p.Phe699Ile)
c.1996T>A (p.Phe666Ile)
c.1915T>A (p.Phe639Ile)
c.2056T>A (p.Phe686Ile)
14g.50153137A=CA2136066077SOS2c.2094T= (p.His698=)
c.1995T= (p.His665=)
c.1914T= (p.His638=)
c.2055T= (p.His685=)
14g.50153137A>CCA389644235SOS2c.2094T>G (p.His698Gln)
c.1995T>G (p.His665Gln)
c.1914T>G (p.His638Gln)
c.2055T>G (p.His685Gln)
14g.50153137A>GCA7177129SOS2c.2094T>C (p.His698=)
c.1995T>C (p.His665=)
c.1914T>C (p.His638=)
c.2055T>C (p.His685=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.50153137A>TCA389644236SOS2c.2094T>A (p.His698Gln)
c.1995T>A (p.His665Gln)
c.1914T>A (p.His638Gln)
c.2055T>A (p.His685Gln)
14g.50153140_50153142delCA2624771481SOS2c.2092_2094del (p.His698del)
c.1993_1995del (p.His665del)
c.1912_1914del (p.His638del)
c.2053_2055del (p.His685del)
gnomAD v4
14g.50153138T>ACA389644239SOS2c.2093A>T (p.His698Leu)
c.1994A>T (p.His665Leu)
c.1913A>T (p.His638Leu)
c.2054A>T (p.His685Leu)
14g.50153138T>CCA389644237SOS2c.2093A>G (p.His698Arg)
c.1994A>G (p.His665Arg)
c.1913A>G (p.His638Arg)
c.2054A>G (p.His685Arg)
14g.50153138T>GCA389644238SOS2c.2093A>C (p.His698Pro)
c.1994A>C (p.His665Pro)
c.1913A>C (p.His638Pro)
c.2054A>C (p.His685Pro)
14g.50153139G>ACA389644240SOS2c.2092C>T (p.His698Tyr)
c.1993C>T (p.His665Tyr)
c.1912C>T (p.His638Tyr)
c.2053C>T (p.His685Tyr)
COSMIC COSMIC
14g.50153139G>CCA389644241SOS2c.2092C>G (p.His698Asp)
c.1993C>G (p.His665Asp)
c.1912C>G (p.His638Asp)
c.2053C>G (p.His685Asp)
dbSNP
14g.50153139G=CA2136066078SOS2c.2092C= (p.His698=)
c.1993C= (p.His665=)
c.1912C= (p.His638=)
c.2053C= (p.His685=)
14g.50153139G>TCA389644242SOS2c.2092C>A (p.His698Asn)
c.1993C>A (p.His665Asn)
c.1912C>A (p.His638Asn)
c.2053C>A (p.His685Asn)
14g.50153140A>CCA389644243SOS2c.2091T>G (p.His697Gln)
c.1992T>G (p.His664Gln)
c.1911T>G (p.His637Gln)
c.2052T>G (p.His684Gln)
gnomAD v4
14g.50153140A>GCA486175143SOS2c.2091T>C (p.His697=)
c.1992T>C (p.His664=)
c.1911T>C (p.His637=)
c.2052T>C (p.His684=)
14g.50153140A>TCA389644244SOS2c.2091T>A (p.His697Gln)
c.1992T>A (p.His664Gln)
c.1911T>A (p.His637Gln)
c.2052T>A (p.His684Gln)
14g.50153141T>ACA389644245SOS2c.2090A>T (p.His697Leu)
c.1991A>T (p.His664Leu)
c.1910A>T (p.His637Leu)
c.2051A>T (p.His684Leu)
gnomAD v4
14g.50153141T>CCA389644246SOS2c.2090A>G (p.His697Arg)
c.1991A>G (p.His664Arg)
c.1910A>G (p.His637Arg)
c.2051A>G (p.His684Arg)
14g.50153141T>GCA389644247SOS2c.2090A>C (p.His697Pro)
c.1991A>C (p.His664Pro)
c.1910A>C (p.His637Pro)
c.2051A>C (p.His684Pro)
gnomAD v4
14g.50153142G>ACA389644248SOS2c.2089C>T (p.His697Tyr)
c.1990C>T (p.His664Tyr)
c.1909C>T (p.His637Tyr)
c.2050C>T (p.His684Tyr)
gnomAD v4
14g.50153142G>CCA389644249SOS2c.2089C>G (p.His697Asp)
c.1990C>G (p.His664Asp)
c.1909C>G (p.His637Asp)
c.2050C>G (p.His684Asp)
14g.50153142G>TCA389644250SOS2c.2089C>A (p.His697Asn)
c.1990C>A (p.His664Asn)
c.1909C>A (p.His637Asn)
c.2050C>A (p.His684Asn)

Number of alleles fetched