Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.39012161_39012251dupCA1139656886SOS1c.1032_1122dup (p.Arg375GlufsTer7)
n.3597_3687dup
n.2272_2362dup
n.354_444dup
c.2154_2244dup (p.Arg749GlufsTer7)
c.934+1209_934+1299dup (n.934+1209_934+1299dup)
c.2265_2355dup (p.Arg786GlufsTer7)
c.2358_2448dup (p.Arg817GlufsTer7)
c.2244_2334dup (p.Arg779GlufsTer7)
c.2241_2331dup (p.Arg778GlufsTer7)
c.2094_2184dup (p.Arg729GlufsTer7)
c.1200_1290dup (p.Arg431GlufsTer7)
 ClinVar dbSNP
2g.39012233A>CCA425730239SOS1c.1050T>G (p.Val350=)
n.3615T>G
n.2290T>G
n.372T>G
c.2172T>G (p.Val724=)
c.934+1227T>G (n.934+1227T>G)
c.2283T>G (p.Val761=)
c.2376T>G (p.Val792=)
c.2262T>G (p.Val754=)
c.2259T>G (p.Val753=)
c.2112T>G (p.Val704=)
c.1218T>G (p.Val406=)
2g.39012233A>GCA425730237SOS1c.1050T>C (p.Val350=)
n.3615T>C
n.2290T>C
n.372T>C
c.2172T>C (p.Val724=)
c.934+1227T>C (n.934+1227T>C)
c.2283T>C (p.Val761=)
c.2376T>C (p.Val792=)
c.2262T>C (p.Val754=)
c.2259T>C (p.Val753=)
c.2112T>C (p.Val704=)
c.1218T>C (p.Val406=)
2g.39012233A>TCA425730238SOS1c.1050T>A (p.Val350=)
n.3615T>A
n.2290T>A
n.372T>A
c.2172T>A (p.Val724=)
c.934+1227T>A (n.934+1227T>A)
c.2283T>A (p.Val761=)
c.2376T>A (p.Val792=)
c.2262T>A (p.Val754=)
c.2259T>A (p.Val753=)
c.2112T>A (p.Val704=)
c.1218T>A (p.Val406=)
2g.39012234A=CA1246131342SOS1c.1049T= (p.Val350=)
n.3614T=
n.2289T=
n.371T=
c.2171T= (p.Val724=)
c.934+1226T= (n.934+1226T=)
c.2282T= (p.Val761=)
c.2375T= (p.Val792=)
c.2261T= (p.Val754=)
c.2258T= (p.Val753=)
c.2111T= (p.Val704=)
c.1217T= (p.Val406=)
2g.39012234A>CCA1624435SOS1c.1049T>G (p.Val350Gly)
n.3614T>G
n.2289T>G
n.371T>G
c.2171T>G (p.Val724Gly)
c.934+1226T>G (n.934+1226T>G)
c.2282T>G (p.Val761Gly)
c.2375T>G (p.Val792Gly)
c.2261T>G (p.Val754Gly)
c.2258T>G (p.Val753Gly)
c.2111T>G (p.Val704Gly)
c.1217T>G (p.Val406Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.39012234A>GCA346364226SOS1c.1049T>C (p.Val350Ala)
n.3614T>C
n.2289T>C
n.371T>C
c.2171T>C (p.Val724Ala)
c.934+1226T>C (n.934+1226T>C)
c.2282T>C (p.Val761Ala)
c.2375T>C (p.Val792Ala)
c.2261T>C (p.Val754Ala)
c.2258T>C (p.Val753Ala)
c.2111T>C (p.Val704Ala)
c.1217T>C (p.Val406Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.39012234A>TCA346364227SOS1c.1049T>A (p.Val350Asp)
n.3614T>A
n.2289T>A
n.371T>A
c.2171T>A (p.Val724Asp)
c.934+1226T>A (n.934+1226T>A)
c.2282T>A (p.Val761Asp)
c.2375T>A (p.Val792Asp)
c.2261T>A (p.Val754Asp)
c.2258T>A (p.Val753Asp)
c.2111T>A (p.Val704Asp)
c.1217T>A (p.Val406Asp)
2g.39012235C>ACA346364230SOS1c.1048G>T (p.Val350Phe)
n.3613G>T
n.2288G>T
n.370G>T
c.2170G>T (p.Val724Phe)
c.934+1225G>T (n.934+1225G>T)
c.2281G>T (p.Val761Phe)
c.2374G>T (p.Val792Phe)
c.2260G>T (p.Val754Phe)
c.2257G>T (p.Val753Phe)
c.2110G>T (p.Val704Phe)
c.1216G>T (p.Val406Phe)
2g.39012235C>GCA346364228SOS1c.1048G>C (p.Val350Leu)
n.3613G>C
n.2288G>C
n.370G>C
c.2170G>C (p.Val724Leu)
c.934+1225G>C (n.934+1225G>C)
c.2281G>C (p.Val761Leu)
c.2374G>C (p.Val792Leu)
c.2260G>C (p.Val754Leu)
c.2257G>C (p.Val753Leu)
c.2110G>C (p.Val704Leu)
c.1216G>C (p.Val406Leu)
2g.39012235C>TCA346364229SOS1c.1048G>A (p.Val350Ile)
n.3613G>A
n.2288G>A
n.370G>A
c.2170G>A (p.Val724Ile)
c.934+1225G>A (n.934+1225G>A)
c.2281G>A (p.Val761Ile)
c.2374G>A (p.Val792Ile)
c.2260G>A (p.Val754Ile)
c.2257G>A (p.Val753Ile)
c.2110G>A (p.Val704Ile)
c.1216G>A (p.Val406Ile)
2g.39012236T>ACA425730240SOS1c.1047A>T (p.Thr349=)
n.3612A>T
n.2287A>T
n.369A>T
c.2169A>T (p.Thr723=)
c.934+1224A>T (n.934+1224A>T)
c.2280A>T (p.Thr760=)
c.2373A>T (p.Thr791=)
c.2259A>T (p.Thr753=)
c.2256A>T (p.Thr752=)
c.2109A>T (p.Thr703=)
c.1215A>T (p.Thr405=)
 ClinVar dbSNP gnomAD v2
2g.39012236T>CCA425730241SOS1c.1047A>G (p.Thr349=)
n.3612A>G
n.2287A>G
n.369A>G
c.2169A>G (p.Thr723=)
c.934+1224A>G (n.934+1224A>G)
c.2280A>G (p.Thr760=)
c.2373A>G (p.Thr791=)
c.2259A>G (p.Thr753=)
c.2256A>G (p.Thr752=)
c.2109A>G (p.Thr703=)
c.1215A>G (p.Thr405=)
2g.39012236T>GCA425730242SOS1c.1047A>C (p.Thr349=)
n.3612A>C
n.2287A>C
n.369A>C
c.2169A>C (p.Thr723=)
c.934+1224A>C (n.934+1224A>C)
c.2280A>C (p.Thr760=)
c.2373A>C (p.Thr791=)
c.2259A>C (p.Thr753=)
c.2256A>C (p.Thr752=)
c.2109A>C (p.Thr703=)
c.1215A>C (p.Thr405=)
2g.39012236T=CA1246131343SOS1c.1047A= (p.Thr349=)
n.3612A=
n.2287A=
n.369A=
c.2169A= (p.Thr723=)
c.934+1224A= (n.934+1224A=)
c.2280A= (p.Thr760=)
c.2373A= (p.Thr791=)
c.2259A= (p.Thr753=)
c.2256A= (p.Thr752=)
c.2109A= (p.Thr703=)
c.1215A= (p.Thr405=)
2g.39012237G>ACA297207SOS1c.1046C>T (p.Thr349Ile)
n.3611C>T
n.2286C>T
n.368C>T
c.2168C>T (p.Thr723Ile)
c.934+1223C>T (n.934+1223C>T)
c.2279C>T (p.Thr760Ile)
c.2372C>T (p.Thr791Ile)
c.2258C>T (p.Thr753Ile)
c.2255C>T (p.Thr752Ile)
c.2108C>T (p.Thr703Ile)
c.1214C>T (p.Thr405Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.39012237G>CCA346364231SOS1c.1046C>G (p.Thr349Arg)
n.3611C>G
n.2286C>G
n.368C>G
c.2168C>G (p.Thr723Arg)
c.934+1223C>G (n.934+1223C>G)
c.2279C>G (p.Thr760Arg)
c.2372C>G (p.Thr791Arg)
c.2258C>G (p.Thr753Arg)
c.2255C>G (p.Thr752Arg)
c.2108C>G (p.Thr703Arg)
c.1214C>G (p.Thr405Arg)
2g.39012237G=CA1246131344SOS1c.1046C= (p.Thr349=)
n.3611C=
n.2286C=
n.368C=
c.2168C= (p.Thr723=)
c.934+1223C= (n.934+1223C=)
c.2279C= (p.Thr760=)
c.2372C= (p.Thr791=)
c.2258C= (p.Thr753=)
c.2255C= (p.Thr752=)
c.2108C= (p.Thr703=)
c.1214C= (p.Thr405=)
2g.39012237G>TCA346364232SOS1c.1046C>A (p.Thr349Lys)
n.3611C>A
n.2286C>A
n.368C>A
c.2168C>A (p.Thr723Lys)
c.934+1223C>A (n.934+1223C>A)
c.2279C>A (p.Thr760Lys)
c.2372C>A (p.Thr791Lys)
c.2258C>A (p.Thr753Lys)
c.2255C>A (p.Thr752Lys)
c.2108C>A (p.Thr703Lys)
c.1214C>A (p.Thr405Lys)
 gnomAD v4
2g.39012238T>ACA346364233SOS1c.1045A>T (p.Thr349Ser)
n.3610A>T
n.2285A>T
n.367A>T
c.2167A>T (p.Thr723Ser)
c.934+1222A>T (n.934+1222A>T)
c.2278A>T (p.Thr760Ser)
c.2371A>T (p.Thr791Ser)
c.2257A>T (p.Thr753Ser)
c.2254A>T (p.Thr752Ser)
c.2107A>T (p.Thr703Ser)
c.1213A>T (p.Thr405Ser)
2g.39012238T>CCA346364234SOS1c.1045A>G (p.Thr349Ala)
n.3610A>G
n.2285A>G
n.367A>G
c.2167A>G (p.Thr723Ala)
c.934+1222A>G (n.934+1222A>G)
c.2278A>G (p.Thr760Ala)
c.2371A>G (p.Thr791Ala)
c.2257A>G (p.Thr753Ala)
c.2254A>G (p.Thr752Ala)
c.2107A>G (p.Thr703Ala)
c.1213A>G (p.Thr405Ala)
2g.39012238T>GCA346364235SOS1c.1045A>C (p.Thr349Pro)
n.3610A>C
n.2285A>C
n.367A>C
c.2167A>C (p.Thr723Pro)
c.934+1222A>C (n.934+1222A>C)
c.2278A>C (p.Thr760Pro)
c.2371A>C (p.Thr791Pro)
c.2257A>C (p.Thr753Pro)
c.2254A>C (p.Thr752Pro)
c.2107A>C (p.Thr703Pro)
c.1213A>C (p.Thr405Pro)
2g.39012239G>ACA1624436SOS1c.1044C>T (p.Pro348=)
n.3609C>T
n.2284C>T
n.366C>T
c.2166C>T (p.Pro722=)
c.934+1221C>T (n.934+1221C>T)
c.2277C>T (p.Pro759=)
c.2370C>T (p.Pro790=)
c.2256C>T (p.Pro752=)
c.2253C>T (p.Pro751=)
c.2106C>T (p.Pro702=)
c.1212C>T (p.Pro404=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.39012239G>CCA425730243SOS1c.1044C>G (p.Pro348=)
n.3609C>G
n.2284C>G
n.366C>G
c.2166C>G (p.Pro722=)
c.934+1221C>G (n.934+1221C>G)
c.2277C>G (p.Pro759=)
c.2370C>G (p.Pro790=)
c.2256C>G (p.Pro752=)
c.2253C>G (p.Pro751=)
c.2106C>G (p.Pro702=)
c.1212C>G (p.Pro404=)
2g.39012239G=CA1246131345SOS1c.1044C= (p.Pro348=)
n.3609C=
n.2284C=
n.366C=
c.2166C= (p.Pro722=)
c.934+1221C= (n.934+1221C=)
c.2277C= (p.Pro759=)
c.2370C= (p.Pro790=)
c.2256C= (p.Pro752=)
c.2253C= (p.Pro751=)
c.2106C= (p.Pro702=)
c.1212C= (p.Pro404=)
2g.39012239G>TCA425730244SOS1c.1044C>A (p.Pro348=)
n.3609C>A
n.2284C>A
n.366C>A
c.2166C>A (p.Pro722=)
c.934+1221C>A (n.934+1221C>A)
c.2277C>A (p.Pro759=)
c.2370C>A (p.Pro790=)
c.2256C>A (p.Pro752=)
c.2253C>A (p.Pro751=)
c.2106C>A (p.Pro702=)
c.1212C>A (p.Pro404=)
2g.39012240G>ACA346364236SOS1c.1043C>T (p.Pro348Leu)
n.3608C>T
n.2283C>T
n.365C>T
c.2165C>T (p.Pro722Leu)
c.934+1220C>T (n.934+1220C>T)
c.2276C>T (p.Pro759Leu)
c.2369C>T (p.Pro790Leu)
c.2255C>T (p.Pro752Leu)
c.2252C>T (p.Pro751Leu)
c.2105C>T (p.Pro702Leu)
c.1211C>T (p.Pro404Leu)
2g.39012240G>CCA346364237SOS1c.1043C>G (p.Pro348Arg)
n.3608C>G
n.2283C>G
n.365C>G
c.2165C>G (p.Pro722Arg)
c.934+1220C>G (n.934+1220C>G)
c.2276C>G (p.Pro759Arg)
c.2369C>G (p.Pro790Arg)
c.2255C>G (p.Pro752Arg)
c.2252C>G (p.Pro751Arg)
c.2105C>G (p.Pro702Arg)
c.1211C>G (p.Pro404Arg)
2g.39012240G>TCA346364238SOS1c.1043C>A (p.Pro348His)
n.3608C>A
n.2283C>A
n.365C>A
c.2165C>A (p.Pro722His)
c.934+1220C>A (n.934+1220C>A)
c.2276C>A (p.Pro759His)
c.2369C>A (p.Pro790His)
c.2255C>A (p.Pro752His)
c.2252C>A (p.Pro751His)
c.2105C>A (p.Pro702His)
c.1211C>A (p.Pro404His)
2g.39012241G>ACA346364239SOS1c.1042C>T (p.Pro348Ser)
n.3607C>T
n.2282C>T
n.364C>T
c.2164C>T (p.Pro722Ser)
c.934+1219C>T (n.934+1219C>T)
c.2275C>T (p.Pro759Ser)
c.2368C>T (p.Pro790Ser)
c.2254C>T (p.Pro752Ser)
c.2251C>T (p.Pro751Ser)
c.2104C>T (p.Pro702Ser)
c.1210C>T (p.Pro404Ser)
2g.39012241G>CCA346364240SOS1c.1042C>G (p.Pro348Ala)
n.3607C>G
n.2282C>G
n.364C>G
c.2164C>G (p.Pro722Ala)
c.934+1219C>G (n.934+1219C>G)
c.2275C>G (p.Pro759Ala)
c.2368C>G (p.Pro790Ala)
c.2254C>G (p.Pro752Ala)
c.2251C>G (p.Pro751Ala)
c.2104C>G (p.Pro702Ala)
c.1210C>G (p.Pro404Ala)
2g.39012241G>TCA346364241SOS1c.1042C>A (p.Pro348Thr)
n.3607C>A
n.2282C>A
n.364C>A
c.2164C>A (p.Pro722Thr)
c.934+1219C>A (n.934+1219C>A)
c.2275C>A (p.Pro759Thr)
c.2368C>A (p.Pro790Thr)
c.2254C>A (p.Pro752Thr)
c.2251C>A (p.Pro751Thr)
c.2104C>A (p.Pro702Thr)
c.1210C>A (p.Pro404Thr)
2g.39012242A>CCA425730245SOS1c.1041T>G (p.Pro347=)
n.3606T>G
n.2281T>G
n.363T>G
c.2163T>G (p.Pro721=)
c.934+1218T>G (n.934+1218T>G)
c.2274T>G (p.Pro758=)
c.2367T>G (p.Pro789=)
c.2253T>G (p.Pro751=)
c.2250T>G (p.Pro750=)
c.2103T>G (p.Pro701=)
c.1209T>G (p.Pro403=)
2g.39012242A>GCA425730246SOS1c.1041T>C (p.Pro347=)
n.3606T>C
n.2281T>C
n.363T>C
c.2163T>C (p.Pro721=)
c.934+1218T>C (n.934+1218T>C)
c.2274T>C (p.Pro758=)
c.2367T>C (p.Pro789=)
c.2253T>C (p.Pro751=)
c.2250T>C (p.Pro750=)
c.2103T>C (p.Pro701=)
c.1209T>C (p.Pro403=)
2g.39012242A>TCA425730247SOS1c.1041T>A (p.Pro347=)
n.3606T>A
n.2281T>A
n.363T>A
c.2163T>A (p.Pro721=)
c.934+1218T>A (n.934+1218T>A)
c.2274T>A (p.Pro758=)
c.2367T>A (p.Pro789=)
c.2253T>A (p.Pro751=)
c.2250T>A (p.Pro750=)
c.2103T>A (p.Pro701=)
c.1209T>A (p.Pro403=)
2g.39012243G>ACA346364242SOS1c.1040C>T (p.Pro347Leu)
n.3605C>T
n.2280C>T
n.362C>T
c.2162C>T (p.Pro721Leu)
c.934+1217C>T (n.934+1217C>T)
c.2273C>T (p.Pro758Leu)
c.2366C>T (p.Pro789Leu)
c.2252C>T (p.Pro751Leu)
c.2249C>T (p.Pro750Leu)
c.2102C>T (p.Pro701Leu)
c.1208C>T (p.Pro403Leu)
2g.39012243G>CCA346364244SOS1c.1040C>G (p.Pro347Arg)
n.3605C>G
n.2280C>G
n.362C>G
c.2162C>G (p.Pro721Arg)
c.934+1217C>G (n.934+1217C>G)
c.2273C>G (p.Pro758Arg)
c.2366C>G (p.Pro789Arg)
c.2252C>G (p.Pro751Arg)
c.2249C>G (p.Pro750Arg)
c.2102C>G (p.Pro701Arg)
c.1208C>G (p.Pro403Arg)
2g.39012243G>TCA346364243SOS1c.1040C>A (p.Pro347His)
n.3605C>A
n.2280C>A
n.362C>A
c.2162C>A (p.Pro721His)
c.934+1217C>A (n.934+1217C>A)
c.2273C>A (p.Pro758His)
c.2366C>A (p.Pro789His)
c.2252C>A (p.Pro751His)
c.2249C>A (p.Pro750His)
c.2102C>A (p.Pro701His)
c.1208C>A (p.Pro403His)
2g.39012244G>ACA346364245SOS1c.1039C>T (p.Pro347Ser)
n.3604C>T
n.2279C>T
n.361C>T
c.2161C>T (p.Pro721Ser)
c.934+1216C>T (n.934+1216C>T)
c.2272C>T (p.Pro758Ser)
c.2365C>T (p.Pro789Ser)
c.2251C>T (p.Pro751Ser)
c.2248C>T (p.Pro750Ser)
c.2101C>T (p.Pro701Ser)
c.1207C>T (p.Pro403Ser)
2g.39012244G>CCA346364246SOS1c.1039C>G (p.Pro347Ala)
n.3604C>G
n.2279C>G
n.361C>G
c.2161C>G (p.Pro721Ala)
c.934+1216C>G (n.934+1216C>G)
c.2272C>G (p.Pro758Ala)
c.2365C>G (p.Pro789Ala)
c.2251C>G (p.Pro751Ala)
c.2248C>G (p.Pro750Ala)
c.2101C>G (p.Pro701Ala)
c.1207C>G (p.Pro403Ala)
2g.39012244G>TCA346364247SOS1c.1039C>A (p.Pro347Thr)
n.3604C>A
n.2279C>A
n.361C>A
c.2161C>A (p.Pro721Thr)
c.934+1216C>A (n.934+1216C>A)
c.2272C>A (p.Pro758Thr)
c.2365C>A (p.Pro789Thr)
c.2251C>A (p.Pro751Thr)
c.2248C>A (p.Pro750Thr)
c.2101C>A (p.Pro701Thr)
c.1207C>A (p.Pro403Thr)
2g.39012245T>ACA425730248SOS1c.1038A>T (p.Ser346=)
n.3603A>T
n.2278A>T
n.360A>T
c.2160A>T (p.Ser720=)
c.934+1215A>T (n.934+1215A>T)
c.2271A>T (p.Ser757=)
c.2364A>T (p.Ser788=)
c.2250A>T (p.Ser750=)
c.2247A>T (p.Ser749=)
c.2100A>T (p.Ser700=)
c.1206A>T (p.Ser402=)
2g.39012245T>CCA425730249SOS1c.1038A>G (p.Ser346=)
n.3603A>G
n.2278A>G
n.360A>G
c.2160A>G (p.Ser720=)
c.934+1215A>G (n.934+1215A>G)
c.2271A>G (p.Ser757=)
c.2364A>G (p.Ser788=)
c.2250A>G (p.Ser750=)
c.2247A>G (p.Ser749=)
c.2100A>G (p.Ser700=)
c.1206A>G (p.Ser402=)
 dbSNP gnomAD v2 gnomAD v4
2g.39012245T>GCA45660504SOS1c.1038A>C (p.Ser346=)
n.3603A>C
n.2278A>C
n.360A>C
c.2160A>C (p.Ser720=)
c.934+1215A>C (n.934+1215A>C)
c.2271A>C (p.Ser757=)
c.2364A>C (p.Ser788=)
c.2250A>C (p.Ser750=)
c.2247A>C (p.Ser749=)
c.2100A>C (p.Ser700=)
c.1206A>C (p.Ser402=)
 dbSNP
2g.39012245T=CA1246131346SOS1c.1038A= (p.Ser346=)
n.3603A=
n.2278A=
n.360A=
c.2160A= (p.Ser720=)
c.934+1215A= (n.934+1215A=)
c.2271A= (p.Ser757=)
c.2364A= (p.Ser788=)
c.2250A= (p.Ser750=)
c.2247A= (p.Ser749=)
c.2100A= (p.Ser700=)
c.1206A= (p.Ser402=)
2g.39012246G>ACA346364248SOS1c.1037C>T (p.Ser346Leu)
n.3602C>T
n.2277C>T
n.359C>T
c.2159C>T (p.Ser720Leu)
c.934+1214C>T (n.934+1214C>T)
c.2270C>T (p.Ser757Leu)
c.2363C>T (p.Ser788Leu)
c.2249C>T (p.Ser750Leu)
c.2246C>T (p.Ser749Leu)
c.2099C>T (p.Ser700Leu)
c.1205C>T (p.Ser402Leu)
 dbSNP
2g.39012246G>CCA346364249SOS1c.1037C>G (p.Ser346Ter)
n.3602C>G
n.2277C>G
n.359C>G
c.2159C>G (p.Ser720Ter)
c.934+1214C>G (n.934+1214C>G)
c.2270C>G (p.Ser757Ter)
c.2363C>G (p.Ser788Ter)
c.2249C>G (p.Ser750Ter)
c.2246C>G (p.Ser749Ter)
c.2099C>G (p.Ser700Ter)
c.1205C>G (p.Ser402Ter)
2g.39012246G=CA1246131347SOS1c.1037C= (p.Ser346=)
n.3602C=
n.2277C=
n.359C=
c.2159C= (p.Ser720=)
c.934+1214C= (n.934+1214C=)
c.2270C= (p.Ser757=)
c.2363C= (p.Ser788=)
c.2249C= (p.Ser750=)
c.2246C= (p.Ser749=)
c.2099C= (p.Ser700=)
c.1205C= (p.Ser402=)
2g.39012246G>TCA346364250SOS1c.1037C>A (p.Ser346Ter)
n.3602C>A
n.2277C>A
n.359C>A
c.2159C>A (p.Ser720Ter)
c.934+1214C>A (n.934+1214C>A)
c.2270C>A (p.Ser757Ter)
c.2363C>A (p.Ser788Ter)
c.2249C>A (p.Ser750Ter)
c.2246C>A (p.Ser749Ter)
c.2099C>A (p.Ser700Ter)
c.1205C>A (p.Ser402Ter)
2g.39012247A>CCA346364251SOS1c.1036T>G (p.Ser346Ala)
n.3601T>G
n.2276T>G
n.358T>G
c.2158T>G (p.Ser720Ala)
c.934+1213T>G (n.934+1213T>G)
c.2269T>G (p.Ser757Ala)
c.2362T>G (p.Ser788Ala)
c.2248T>G (p.Ser750Ala)
c.2245T>G (p.Ser749Ala)
c.2098T>G (p.Ser700Ala)
c.1204T>G (p.Ser402Ala)

Number of alleles fetched