Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.38996981A=CA1246123928SOS1c.1789T= (p.Tyr597=)
n.3029T=
c.*328T= (n.*328T=)
c.2791T= (p.Tyr931=)
c.2911T= (p.Tyr971=)
c.718T= (p.Tyr240=)
c.*609T= (n.*609T=)
c.3022T= (p.Tyr1008=)
c.3115T= (p.Tyr1039=)
c.3001T= (p.Tyr1001=)
c.2998T= (p.Tyr1000=)
c.2851T= (p.Tyr951=)
c.1957T= (p.Tyr653=)
2g.38996981A>CCA346361417SOS1c.1789T>G (p.Tyr597Asp)
n.3029T>G
c.*328T>G (n.*328T>G)
c.2791T>G (p.Tyr931Asp)
c.2911T>G (p.Tyr971Asp)
c.718T>G (p.Tyr240Asp)
c.*609T>G (n.*609T>G)
c.3022T>G (p.Tyr1008Asp)
c.3115T>G (p.Tyr1039Asp)
c.3001T>G (p.Tyr1001Asp)
c.2998T>G (p.Tyr1000Asp)
c.2851T>G (p.Tyr951Asp)
c.1957T>G (p.Tyr653Asp)
2g.38996981A>GCA261736SOS1c.1789T>C (p.Tyr597His)
n.3029T>C
c.*328T>C (n.*328T>C)
c.2791T>C (p.Tyr931His)
c.2911T>C (p.Tyr971His)
c.718T>C (p.Tyr240His)
c.*609T>C (n.*609T>C)
c.3022T>C (p.Tyr1008His)
c.3115T>C (p.Tyr1039His)
c.3001T>C (p.Tyr1001His)
c.2998T>C (p.Tyr1000His)
c.2851T>C (p.Tyr951His)
c.1957T>C (p.Tyr653His)
ClinVar dbSNP
2g.38996981A>TCA346361418SOS1c.1789T>A (p.Tyr597Asn)
n.3029T>A
c.*328T>A (n.*328T>A)
c.2791T>A (p.Tyr931Asn)
c.2911T>A (p.Tyr971Asn)
c.718T>A (p.Tyr240Asn)
c.*609T>A (n.*609T>A)
c.3022T>A (p.Tyr1008Asn)
c.3115T>A (p.Tyr1039Asn)
c.3001T>A (p.Tyr1001Asn)
c.2998T>A (p.Tyr1000Asn)
c.2851T>A (p.Tyr951Asn)
c.1957T>A (p.Tyr653Asn)
2g.38996982A>CCA346361419SOS1c.1788T>G (p.Asp596Glu)
n.3028T>G
c.*327T>G (n.*327T>G)
c.2790T>G (p.Asp930Glu)
c.2910T>G (p.Asp970Glu)
c.717T>G (p.Asp239Glu)
c.*608T>G (n.*608T>G)
c.3021T>G (p.Asp1007Glu)
c.3114T>G (p.Asp1038Glu)
c.3000T>G (p.Asp1000Glu)
c.2997T>G (p.Asp999Glu)
c.2850T>G (p.Asp950Glu)
c.1956T>G (p.Asp652Glu)
2g.38996982A>GCA425866305SOS1c.1788T>C (p.Asp596=)
n.3028T>C
c.*327T>C (n.*327T>C)
c.2790T>C (p.Asp930=)
c.2910T>C (p.Asp970=)
c.717T>C (p.Asp239=)
c.*608T>C (n.*608T>C)
c.3021T>C (p.Asp1007=)
c.3114T>C (p.Asp1038=)
c.3000T>C (p.Asp1000=)
c.2997T>C (p.Asp999=)
c.2850T>C (p.Asp950=)
c.1956T>C (p.Asp652=)
2g.38996982A>TCA346361420SOS1c.1788T>A (p.Asp596Glu)
n.3028T>A
c.*327T>A (n.*327T>A)
c.2790T>A (p.Asp930Glu)
c.2910T>A (p.Asp970Glu)
c.717T>A (p.Asp239Glu)
c.*608T>A (n.*608T>A)
c.3021T>A (p.Asp1007Glu)
c.3114T>A (p.Asp1038Glu)
c.3000T>A (p.Asp1000Glu)
c.2997T>A (p.Asp999Glu)
c.2850T>A (p.Asp950Glu)
c.1956T>A (p.Asp652Glu)
2g.38996983T>ACA346361423SOS1c.1787A>T (p.Asp596Val)
n.3027A>T
c.*326A>T (n.*326A>T)
c.2789A>T (p.Asp930Val)
c.2909A>T (p.Asp970Val)
c.716A>T (p.Asp239Val)
c.*607A>T (n.*607A>T)
c.3020A>T (p.Asp1007Val)
c.3113A>T (p.Asp1038Val)
c.2999A>T (p.Asp1000Val)
c.2996A>T (p.Asp999Val)
c.2849A>T (p.Asp950Val)
c.1955A>T (p.Asp652Val)
2g.38996983T>CCA346361422SOS1c.1787A>G (p.Asp596Gly)
n.3027A>G
c.*326A>G (n.*326A>G)
c.2789A>G (p.Asp930Gly)
c.2909A>G (p.Asp970Gly)
c.716A>G (p.Asp239Gly)
c.*607A>G (n.*607A>G)
c.3020A>G (p.Asp1007Gly)
c.3113A>G (p.Asp1038Gly)
c.2999A>G (p.Asp1000Gly)
c.2996A>G (p.Asp999Gly)
c.2849A>G (p.Asp950Gly)
c.1955A>G (p.Asp652Gly)
2g.38996983T>GCA346361421SOS1c.1787A>C (p.Asp596Ala)
n.3027A>C
c.*326A>C (n.*326A>C)
c.2789A>C (p.Asp930Ala)
c.2909A>C (p.Asp970Ala)
c.716A>C (p.Asp239Ala)
c.*607A>C (n.*607A>C)
c.3020A>C (p.Asp1007Ala)
c.3113A>C (p.Asp1038Ala)
c.2999A>C (p.Asp1000Ala)
c.2996A>C (p.Asp999Ala)
c.2849A>C (p.Asp950Ala)
c.1955A>C (p.Asp652Ala)
2g.38996984C>ACA346361424SOS1c.1786G>T (p.Asp596Tyr)
n.3026G>T
c.*325G>T (n.*325G>T)
c.2788G>T (p.Asp930Tyr)
c.2908G>T (p.Asp970Tyr)
c.715G>T (p.Asp239Tyr)
c.*606G>T (n.*606G>T)
c.3019G>T (p.Asp1007Tyr)
c.3112G>T (p.Asp1038Tyr)
c.2998G>T (p.Asp1000Tyr)
c.2995G>T (p.Asp999Tyr)
c.2848G>T (p.Asp950Tyr)
c.1954G>T (p.Asp652Tyr)
2g.38996984C>GCA346361425SOS1c.1786G>C (p.Asp596His)
n.3026G>C
c.*325G>C (n.*325G>C)
c.2788G>C (p.Asp930His)
c.2908G>C (p.Asp970His)
c.715G>C (p.Asp239His)
c.*606G>C (n.*606G>C)
c.3019G>C (p.Asp1007His)
c.3112G>C (p.Asp1038His)
c.2998G>C (p.Asp1000His)
c.2995G>C (p.Asp999His)
c.2848G>C (p.Asp950His)
c.1954G>C (p.Asp652His)
2g.38996984C>TCA346361426SOS1c.1786G>A (p.Asp596Asn)
n.3026G>A
c.*325G>A (n.*325G>A)
c.2788G>A (p.Asp930Asn)
c.2908G>A (p.Asp970Asn)
c.715G>A (p.Asp239Asn)
c.*606G>A (n.*606G>A)
c.3019G>A (p.Asp1007Asn)
c.3112G>A (p.Asp1038Asn)
c.2998G>A (p.Asp1000Asn)
c.2995G>A (p.Asp999Asn)
c.2848G>A (p.Asp950Asn)
c.1954G>A (p.Asp652Asn)
2g.38996985T>ACA425866310SOS1c.1785A>T (p.Thr595=)
n.3025A>T
c.*324A>T (n.*324A>T)
c.2787A>T (p.Thr929=)
c.2907A>T (p.Thr969=)
c.714A>T (p.Thr238=)
c.*605A>T (n.*605A>T)
c.3018A>T (p.Thr1006=)
c.3111A>T (p.Thr1037=)
c.2997A>T (p.Thr999=)
c.2994A>T (p.Thr998=)
c.2847A>T (p.Thr949=)
c.1953A>T (p.Thr651=)
2g.38996985T>CCA425866311SOS1c.1785A>G (p.Thr595=)
n.3025A>G
c.*324A>G (n.*324A>G)
c.2787A>G (p.Thr929=)
c.2907A>G (p.Thr969=)
c.714A>G (p.Thr238=)
c.*605A>G (n.*605A>G)
c.3018A>G (p.Thr1006=)
c.3111A>G (p.Thr1037=)
c.2997A>G (p.Thr999=)
c.2994A>G (p.Thr998=)
c.2847A>G (p.Thr949=)
c.1953A>G (p.Thr651=)
2g.38996985T>GCA425866312SOS1c.1785A>C (p.Thr595=)
n.3025A>C
c.*324A>C (n.*324A>C)
c.2787A>C (p.Thr929=)
c.2907A>C (p.Thr969=)
c.714A>C (p.Thr238=)
c.*605A>C (n.*605A>C)
c.3018A>C (p.Thr1006=)
c.3111A>C (p.Thr1037=)
c.2997A>C (p.Thr999=)
c.2994A>C (p.Thr998=)
c.2847A>C (p.Thr949=)
c.1953A>C (p.Thr651=)
ClinVar
2g.38996986G>ACA346361427SOS1c.1784C>T (p.Thr595Ile)
n.3024C>T
c.*323C>T (n.*323C>T)
c.2786C>T (p.Thr929Ile)
c.2906C>T (p.Thr969Ile)
c.713C>T (p.Thr238Ile)
c.*604C>T (n.*604C>T)
c.3017C>T (p.Thr1006Ile)
c.3110C>T (p.Thr1037Ile)
c.2996C>T (p.Thr999Ile)
c.2993C>T (p.Thr998Ile)
c.2846C>T (p.Thr949Ile)
c.1952C>T (p.Thr651Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.38996986G>CCA346361428SOS1c.1784C>G (p.Thr595Arg)
n.3024C>G
c.*323C>G (n.*323C>G)
c.2786C>G (p.Thr929Arg)
c.2906C>G (p.Thr969Arg)
c.713C>G (p.Thr238Arg)
c.*604C>G (n.*604C>G)
c.3017C>G (p.Thr1006Arg)
c.3110C>G (p.Thr1037Arg)
c.2996C>G (p.Thr999Arg)
c.2993C>G (p.Thr998Arg)
c.2846C>G (p.Thr949Arg)
c.1952C>G (p.Thr651Arg)
2g.38996986G=CA1246123929SOS1c.1784C= (p.Thr595=)
n.3024C=
c.*323C= (n.*323C=)
c.2786C= (p.Thr929=)
c.2906C= (p.Thr969=)
c.713C= (p.Thr238=)
c.*604C= (n.*604C=)
c.3017C= (p.Thr1006=)
c.3110C= (p.Thr1037=)
c.2996C= (p.Thr999=)
c.2993C= (p.Thr998=)
c.2846C= (p.Thr949=)
c.1952C= (p.Thr651=)
2g.38996986G>TCA346361429SOS1c.1784C>A (p.Thr595Lys)
n.3024C>A
c.*323C>A (n.*323C>A)
c.2786C>A (p.Thr929Lys)
c.2906C>A (p.Thr969Lys)
c.713C>A (p.Thr238Lys)
c.*604C>A (n.*604C>A)
c.3017C>A (p.Thr1006Lys)
c.3110C>A (p.Thr1037Lys)
c.2996C>A (p.Thr999Lys)
c.2993C>A (p.Thr998Lys)
c.2846C>A (p.Thr949Lys)
c.1952C>A (p.Thr651Lys)
2g.38996987T>ACA346361430SOS1c.1783A>T (p.Thr595Ser)
n.3023A>T
c.*322A>T (n.*322A>T)
c.2785A>T (p.Thr929Ser)
c.2905A>T (p.Thr969Ser)
c.712A>T (p.Thr238Ser)
c.*603A>T (n.*603A>T)
c.3016A>T (p.Thr1006Ser)
c.3109A>T (p.Thr1037Ser)
c.2995A>T (p.Thr999Ser)
c.2992A>T (p.Thr998Ser)
c.2845A>T (p.Thr949Ser)
c.1951A>T (p.Thr651Ser)
2g.38996987T>CCA346361431SOS1c.1783A>G (p.Thr595Ala)
n.3023A>G
c.*322A>G (n.*322A>G)
c.2785A>G (p.Thr929Ala)
c.2905A>G (p.Thr969Ala)
c.712A>G (p.Thr238Ala)
c.*603A>G (n.*603A>G)
c.3016A>G (p.Thr1006Ala)
c.3109A>G (p.Thr1037Ala)
c.2995A>G (p.Thr999Ala)
c.2992A>G (p.Thr998Ala)
c.2845A>G (p.Thr949Ala)
c.1951A>G (p.Thr651Ala)
2g.38996987T>GCA346361432SOS1c.1783A>C (p.Thr595Pro)
n.3023A>C
c.*322A>C (n.*322A>C)
c.2785A>C (p.Thr929Pro)
c.2905A>C (p.Thr969Pro)
c.712A>C (p.Thr238Pro)
c.*603A>C (n.*603A>C)
c.3016A>C (p.Thr1006Pro)
c.3109A>C (p.Thr1037Pro)
c.2995A>C (p.Thr999Pro)
c.2992A>C (p.Thr998Pro)
c.2845A>C (p.Thr949Pro)
c.1951A>C (p.Thr651Pro)
2g.38996988A=CA1246123930SOS1c.1782T= (p.Phe594=)
n.3022T=
c.*321T= (n.*321T=)
c.2784T= (p.Phe928=)
c.2904T= (p.Phe968=)
c.711T= (p.Phe237=)
c.*602T= (n.*602T=)
c.3015T= (p.Phe1005=)
c.3108T= (p.Phe1036=)
c.2994T= (p.Phe998=)
c.2991T= (p.Phe997=)
c.2844T= (p.Phe948=)
c.1950T= (p.Phe650=)
2g.38996988A>CCA346361433SOS1c.1782T>G (p.Phe594Leu)
n.3022T>G
c.*321T>G (n.*321T>G)
c.2784T>G (p.Phe928Leu)
c.2904T>G (p.Phe968Leu)
c.711T>G (p.Phe237Leu)
c.*602T>G (n.*602T>G)
c.3015T>G (p.Phe1005Leu)
c.3108T>G (p.Phe1036Leu)
c.2994T>G (p.Phe998Leu)
c.2991T>G (p.Phe997Leu)
c.2844T>G (p.Phe948Leu)
c.1950T>G (p.Phe650Leu)
2g.38996988A>GCA425866316SOS1c.1782T>C (p.Phe594=)
n.3022T>C
c.*321T>C (n.*321T>C)
c.2784T>C (p.Phe928=)
c.2904T>C (p.Phe968=)
c.711T>C (p.Phe237=)
c.*602T>C (n.*602T>C)
c.3015T>C (p.Phe1005=)
c.3108T>C (p.Phe1036=)
c.2994T>C (p.Phe998=)
c.2991T>C (p.Phe997=)
c.2844T>C (p.Phe948=)
c.1950T>C (p.Phe650=)
dbSNP
2g.38996988A>TCA346361434SOS1c.1782T>A (p.Phe594Leu)
n.3022T>A
c.*321T>A (n.*321T>A)
c.2784T>A (p.Phe928Leu)
c.2904T>A (p.Phe968Leu)
c.711T>A (p.Phe237Leu)
c.*602T>A (n.*602T>A)
c.3015T>A (p.Phe1005Leu)
c.3108T>A (p.Phe1036Leu)
c.2994T>A (p.Phe998Leu)
c.2991T>A (p.Phe997Leu)
c.2844T>A (p.Phe948Leu)
c.1950T>A (p.Phe650Leu)
2g.38996989A>CCA346361436SOS1c.1781T>G (p.Phe594Cys)
n.3021T>G
c.*320T>G (n.*320T>G)
c.2783T>G (p.Phe928Cys)
c.2903T>G (p.Phe968Cys)
c.710T>G (p.Phe237Cys)
c.*601T>G (n.*601T>G)
c.3014T>G (p.Phe1005Cys)
c.3107T>G (p.Phe1036Cys)
c.2993T>G (p.Phe998Cys)
c.2990T>G (p.Phe997Cys)
c.2843T>G (p.Phe948Cys)
c.1949T>G (p.Phe650Cys)
2g.38996989A>GCA346361437SOS1c.1781T>C (p.Phe594Ser)
n.3021T>C
c.*320T>C (n.*320T>C)
c.2783T>C (p.Phe928Ser)
c.2903T>C (p.Phe968Ser)
c.710T>C (p.Phe237Ser)
c.*601T>C (n.*601T>C)
c.3014T>C (p.Phe1005Ser)
c.3107T>C (p.Phe1036Ser)
c.2993T>C (p.Phe998Ser)
c.2990T>C (p.Phe997Ser)
c.2843T>C (p.Phe948Ser)
c.1949T>C (p.Phe650Ser)
2g.38996989A>TCA346361435SOS1c.1781T>A (p.Phe594Tyr)
n.3021T>A
c.*320T>A (n.*320T>A)
c.2783T>A (p.Phe928Tyr)
c.2903T>A (p.Phe968Tyr)
c.710T>A (p.Phe237Tyr)
c.*601T>A (n.*601T>A)
c.3014T>A (p.Phe1005Tyr)
c.3107T>A (p.Phe1036Tyr)
c.2993T>A (p.Phe998Tyr)
c.2990T>A (p.Phe997Tyr)
c.2843T>A (p.Phe948Tyr)
c.1949T>A (p.Phe650Tyr)
2g.38996990A>CCA346361440SOS1c.1780T>G (p.Phe594Val)
n.3020T>G
c.*319T>G (n.*319T>G)
c.2782T>G (p.Phe928Val)
c.2902T>G (p.Phe968Val)
c.709T>G (p.Phe237Val)
c.*600T>G (n.*600T>G)
c.3013T>G (p.Phe1005Val)
c.3106T>G (p.Phe1036Val)
c.2992T>G (p.Phe998Val)
c.2989T>G (p.Phe997Val)
c.2842T>G (p.Phe948Val)
c.1948T>G (p.Phe650Val)
2g.38996990A>GCA346361438SOS1c.1780T>C (p.Phe594Leu)
n.3020T>C
c.*319T>C (n.*319T>C)
c.2782T>C (p.Phe928Leu)
c.2902T>C (p.Phe968Leu)
c.709T>C (p.Phe237Leu)
c.*600T>C (n.*600T>C)
c.3013T>C (p.Phe1005Leu)
c.3106T>C (p.Phe1036Leu)
c.2992T>C (p.Phe998Leu)
c.2989T>C (p.Phe997Leu)
c.2842T>C (p.Phe948Leu)
c.1948T>C (p.Phe650Leu)
2g.38996990A>TCA346361439SOS1c.1780T>A (p.Phe594Ile)
n.3020T>A
c.*319T>A (n.*319T>A)
c.2782T>A (p.Phe928Ile)
c.2902T>A (p.Phe968Ile)
c.709T>A (p.Phe237Ile)
c.*600T>A (n.*600T>A)
c.3013T>A (p.Phe1005Ile)
c.3106T>A (p.Phe1036Ile)
c.2992T>A (p.Phe998Ile)
c.2989T>A (p.Phe997Ile)
c.2842T>A (p.Phe948Ile)
c.1948T>A (p.Phe650Ile)
2g.38996991T>ACA346361441SOS1c.1779A>T (p.Glu593Asp)
n.3019A>T
c.*318A>T (n.*318A>T)
c.2781A>T (p.Glu927Asp)
c.2901A>T (p.Glu967Asp)
c.708A>T (p.Glu236Asp)
c.*599A>T (n.*599A>T)
c.3012A>T (p.Glu1004Asp)
c.3105A>T (p.Glu1035Asp)
c.2991A>T (p.Glu997Asp)
c.2988A>T (p.Glu996Asp)
c.2841A>T (p.Glu947Asp)
c.1947A>T (p.Glu649Asp)
2g.38996991T>CCA425866318SOS1c.1779A>G (p.Glu593=)
n.3019A>G
c.*318A>G (n.*318A>G)
c.2781A>G (p.Glu927=)
c.2901A>G (p.Glu967=)
c.708A>G (p.Glu236=)
c.*599A>G (n.*599A>G)
c.3012A>G (p.Glu1004=)
c.3105A>G (p.Glu1035=)
c.2991A>G (p.Glu997=)
c.2988A>G (p.Glu996=)
c.2841A>G (p.Glu947=)
c.1947A>G (p.Glu649=)
2g.38996991T>GCA346361442SOS1c.1779A>C (p.Glu593Asp)
n.3019A>C
c.*318A>C (n.*318A>C)
c.2781A>C (p.Glu927Asp)
c.2901A>C (p.Glu967Asp)
c.708A>C (p.Glu236Asp)
c.*599A>C (n.*599A>C)
c.3012A>C (p.Glu1004Asp)
c.3105A>C (p.Glu1035Asp)
c.2991A>C (p.Glu997Asp)
c.2988A>C (p.Glu996Asp)
c.2841A>C (p.Glu947Asp)
c.1947A>C (p.Glu649Asp)
ClinVar gnomAD v4
2g.38996992T>ACA346361443SOS1c.1778A>T (p.Glu593Val)
n.3018A>T
c.*317A>T (n.*317A>T)
c.2780A>T (p.Glu927Val)
c.2900A>T (p.Glu967Val)
c.707A>T (p.Glu236Val)
c.*598A>T (n.*598A>T)
c.3011A>T (p.Glu1004Val)
c.3104A>T (p.Glu1035Val)
c.2990A>T (p.Glu997Val)
c.2987A>T (p.Glu996Val)
c.2840A>T (p.Glu947Val)
c.1946A>T (p.Glu649Val)
2g.38996992T>CCA346361444SOS1c.1778A>G (p.Glu593Gly)
n.3018A>G
c.*317A>G (n.*317A>G)
c.2780A>G (p.Glu927Gly)
c.2900A>G (p.Glu967Gly)
c.707A>G (p.Glu236Gly)
c.*598A>G (n.*598A>G)
c.3011A>G (p.Glu1004Gly)
c.3104A>G (p.Glu1035Gly)
c.2990A>G (p.Glu997Gly)
c.2987A>G (p.Glu996Gly)
c.2840A>G (p.Glu947Gly)
c.1946A>G (p.Glu649Gly)
ClinVar dbSNP gnomAD v4
2g.38996992T>GCA346361445SOS1c.1778A>C (p.Glu593Ala)
n.3018A>C
c.*317A>C (n.*317A>C)
c.2780A>C (p.Glu927Ala)
c.2900A>C (p.Glu967Ala)
c.707A>C (p.Glu236Ala)
c.*598A>C (n.*598A>C)
c.3011A>C (p.Glu1004Ala)
c.3104A>C (p.Glu1035Ala)
c.2990A>C (p.Glu997Ala)
c.2987A>C (p.Glu996Ala)
c.2840A>C (p.Glu947Ala)
c.1946A>C (p.Glu649Ala)
2g.38996993C>ACA346361446SOS1c.1777G>T (p.Glu593Ter)
n.3017G>T
c.*316G>T (n.*316G>T)
c.2779G>T (p.Glu927Ter)
c.2899G>T (p.Glu967Ter)
c.706G>T (p.Glu236Ter)
c.*597G>T (n.*597G>T)
c.3010G>T (p.Glu1004Ter)
c.3103G>T (p.Glu1035Ter)
c.2989G>T (p.Glu997Ter)
c.2986G>T (p.Glu996Ter)
c.2839G>T (p.Glu947Ter)
c.1945G>T (p.Glu649Ter)
2g.38996993C>GCA346361447SOS1c.1777G>C (p.Glu593Gln)
n.3017G>C
c.*316G>C (n.*316G>C)
c.2779G>C (p.Glu927Gln)
c.2899G>C (p.Glu967Gln)
c.706G>C (p.Glu236Gln)
c.*597G>C (n.*597G>C)
c.3010G>C (p.Glu1004Gln)
c.3103G>C (p.Glu1035Gln)
c.2989G>C (p.Glu997Gln)
c.2986G>C (p.Glu996Gln)
c.2839G>C (p.Glu947Gln)
c.1945G>C (p.Glu649Gln)
2g.38996993C>TCA346361448SOS1c.1777G>A (p.Glu593Lys)
n.3017G>A
c.*316G>A (n.*316G>A)
c.2779G>A (p.Glu927Lys)
c.2899G>A (p.Glu967Lys)
c.706G>A (p.Glu236Lys)
c.*597G>A (n.*597G>A)
c.3010G>A (p.Glu1004Lys)
c.3103G>A (p.Glu1035Lys)
c.2989G>A (p.Glu997Lys)
c.2986G>A (p.Glu996Lys)
c.2839G>A (p.Glu947Lys)
c.1945G>A (p.Glu649Lys)
ClinVar
2g.38996994C>ACA346361449SOS1c.1776G>T (p.Lys592Asn)
n.3016G>T
c.*315G>T (n.*315G>T)
c.2778G>T (p.Lys926Asn)
c.2898G>T (p.Lys966Asn)
c.705G>T (p.Lys235Asn)
c.*596G>T (n.*596G>T)
c.3009G>T (p.Lys1003Asn)
c.3102G>T (p.Lys1034Asn)
c.2988G>T (p.Lys996Asn)
c.2985G>T (p.Lys995Asn)
c.2838G>T (p.Lys946Asn)
c.1944G>T (p.Lys648Asn)
gnomAD v4
2g.38996994C=CA1246123931SOS1c.1776G= (p.Lys592=)
n.3016G=
c.*315G= (n.*315G=)
c.2778G= (p.Lys926=)
c.2898G= (p.Lys966=)
c.705G= (p.Lys235=)
c.*596G= (n.*596G=)
c.3009G= (p.Lys1003=)
c.3102G= (p.Lys1034=)
c.2988G= (p.Lys996=)
c.2985G= (p.Lys995=)
c.2838G= (p.Lys946=)
c.1944G= (p.Lys648=)
2g.38996994C>GCA346361450SOS1c.1776G>C (p.Lys592Asn)
n.3016G>C
c.*315G>C (n.*315G>C)
c.2778G>C (p.Lys926Asn)
c.2898G>C (p.Lys966Asn)
c.705G>C (p.Lys235Asn)
c.*596G>C (n.*596G>C)
c.3009G>C (p.Lys1003Asn)
c.3102G>C (p.Lys1034Asn)
c.2988G>C (p.Lys996Asn)
c.2985G>C (p.Lys995Asn)
c.2838G>C (p.Lys946Asn)
c.1944G>C (p.Lys648Asn)
2g.38996994C>TCA425866323SOS1c.1776G>A (p.Lys592=)
n.3016G>A
c.*315G>A (n.*315G>A)
c.2778G>A (p.Lys926=)
c.2898G>A (p.Lys966=)
c.705G>A (p.Lys235=)
c.*596G>A (n.*596G>A)
c.3009G>A (p.Lys1003=)
c.3102G>A (p.Lys1034=)
c.2988G>A (p.Lys996=)
c.2985G>A (p.Lys995=)
c.2838G>A (p.Lys946=)
c.1944G>A (p.Lys648=)
dbSNP gnomAD v4
2g.38996995T>ACA346361453SOS1c.1775A>T (p.Lys592Met)
n.3015A>T
c.*314A>T (n.*314A>T)
c.2777A>T (p.Lys926Met)
c.2897A>T (p.Lys966Met)
c.704A>T (p.Lys235Met)
c.*595A>T (n.*595A>T)
c.3008A>T (p.Lys1003Met)
c.3101A>T (p.Lys1034Met)
c.2987A>T (p.Lys996Met)
c.2984A>T (p.Lys995Met)
c.2837A>T (p.Lys946Met)
c.1943A>T (p.Lys648Met)
2g.38996995T>CCA346361451SOS1c.1775A>G (p.Lys592Arg)
n.3015A>G
c.*314A>G (n.*314A>G)
c.2777A>G (p.Lys926Arg)
c.2897A>G (p.Lys966Arg)
c.704A>G (p.Lys235Arg)
c.*595A>G (n.*595A>G)
c.3008A>G (p.Lys1003Arg)
c.3101A>G (p.Lys1034Arg)
c.2987A>G (p.Lys996Arg)
c.2984A>G (p.Lys995Arg)
c.2837A>G (p.Lys946Arg)
c.1943A>G (p.Lys648Arg)
ClinVar
2g.38996995T>GCA346361452SOS1c.1775A>C (p.Lys592Thr)
n.3015A>C
c.*314A>C (n.*314A>C)
c.2777A>C (p.Lys926Thr)
c.2897A>C (p.Lys966Thr)
c.704A>C (p.Lys235Thr)
c.*595A>C (n.*595A>C)
c.3008A>C (p.Lys1003Thr)
c.3101A>C (p.Lys1034Thr)
c.2987A>C (p.Lys996Thr)
c.2984A>C (p.Lys995Thr)
c.2837A>C (p.Lys946Thr)
c.1943A>C (p.Lys648Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38996995T=CA1246123932SOS1c.1775A= (p.Lys592=)
n.3015A=
c.*314A= (n.*314A=)
c.2777A= (p.Lys926=)
c.2897A= (p.Lys966=)
c.704A= (p.Lys235=)
c.*595A= (n.*595A=)
c.3008A= (p.Lys1003=)
c.3101A= (p.Lys1034=)
c.2987A= (p.Lys996=)
c.2984A= (p.Lys995=)
c.2837A= (p.Lys946=)
c.1943A= (p.Lys648=)
2g.38996996T>ACA1624279SOS1c.1774A>T (p.Lys592Ter)
n.3014A>T
c.*313A>T (n.*313A>T)
c.2776A>T (p.Lys926Ter)
c.2896A>T (p.Lys966Ter)
c.703A>T (p.Lys235Ter)
c.*594A>T (n.*594A>T)
c.3007A>T (p.Lys1003Ter)
c.3100A>T (p.Lys1034Ter)
c.2986A>T (p.Lys996Ter)
c.2983A>T (p.Lys995Ter)
c.2836A>T (p.Lys946Ter)
c.1942A>T (p.Lys648Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.38996996T>CCA346361454SOS1c.1774A>G (p.Lys592Glu)
n.3014A>G
c.*313A>G (n.*313A>G)
c.2776A>G (p.Lys926Glu)
c.2896A>G (p.Lys966Glu)
c.703A>G (p.Lys235Glu)
c.*594A>G (n.*594A>G)
c.3007A>G (p.Lys1003Glu)
c.3100A>G (p.Lys1034Glu)
c.2986A>G (p.Lys996Glu)
c.2983A>G (p.Lys995Glu)
c.2836A>G (p.Lys946Glu)
c.1942A>G (p.Lys648Glu)
2g.38996996T>GCA346361455SOS1c.1774A>C (p.Lys592Gln)
n.3014A>C
c.*313A>C (n.*313A>C)
c.2776A>C (p.Lys926Gln)
c.2896A>C (p.Lys966Gln)
c.703A>C (p.Lys235Gln)
c.*594A>C (n.*594A>C)
c.3007A>C (p.Lys1003Gln)
c.3100A>C (p.Lys1034Gln)
c.2986A>C (p.Lys996Gln)
c.2983A>C (p.Lys995Gln)
c.2836A>C (p.Lys946Gln)
c.1942A>C (p.Lys648Gln)
2g.38996996T=CA1246123933SOS1c.1774A= (p.Lys592=)
n.3014A=
c.*313A= (n.*313A=)
c.2776A= (p.Lys926=)
c.2896A= (p.Lys966=)
c.703A= (p.Lys235=)
c.*594A= (n.*594A=)
c.3007A= (p.Lys1003=)
c.3100A= (p.Lys1034=)
c.2986A= (p.Lys996=)
c.2983A= (p.Lys995=)
c.2836A= (p.Lys946=)
c.1942A= (p.Lys648=)
2g.38996997C>ACA346361456SOS1c.1773G>T (p.Glu591Asp)
n.3013G>T
c.*312G>T (n.*312G>T)
c.2775G>T (p.Glu925Asp)
c.2895G>T (p.Glu965Asp)
c.702G>T (p.Glu234Asp)
c.*593G>T (n.*593G>T)
c.3006G>T (p.Glu1002Asp)
c.3099G>T (p.Glu1033Asp)
c.2985G>T (p.Glu995Asp)
c.2982G>T (p.Glu994Asp)
c.2835G>T (p.Glu945Asp)
c.1941G>T (p.Glu647Asp)
2g.38996997C=CA1246123934SOS1c.1773G= (p.Glu591=)
n.3013G=
c.*312G= (n.*312G=)
c.2775G= (p.Glu925=)
c.2895G= (p.Glu965=)
c.702G= (p.Glu234=)
c.*593G= (n.*593G=)
c.3006G= (p.Glu1002=)
c.3099G= (p.Glu1033=)
c.2985G= (p.Glu995=)
c.2982G= (p.Glu994=)
c.2835G= (p.Glu945=)
c.1941G= (p.Glu647=)
2g.38996997C>GCA346361457SOS1c.1773G>C (p.Glu591Asp)
n.3013G>C
c.*312G>C (n.*312G>C)
c.2775G>C (p.Glu925Asp)
c.2895G>C (p.Glu965Asp)
c.702G>C (p.Glu234Asp)
c.*593G>C (n.*593G>C)
c.3006G>C (p.Glu1002Asp)
c.3099G>C (p.Glu1033Asp)
c.2985G>C (p.Glu995Asp)
c.2982G>C (p.Glu994Asp)
c.2835G>C (p.Glu945Asp)
c.1941G>C (p.Glu647Asp)
2g.38996997C>TCA425866330SOS1c.1773G>A (p.Glu591=)
n.3013G>A
c.*312G>A (n.*312G>A)
c.2775G>A (p.Glu925=)
c.2895G>A (p.Glu965=)
c.702G>A (p.Glu234=)
c.*593G>A (n.*593G>A)
c.3006G>A (p.Glu1002=)
c.3099G>A (p.Glu1033=)
c.2985G>A (p.Glu995=)
c.2982G>A (p.Glu994=)
c.2835G>A (p.Glu945=)
c.1941G>A (p.Glu647=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.38996998T>ACA346361458SOS1c.1772A>T (p.Glu591Val)
n.3012A>T
c.*311A>T (n.*311A>T)
c.2774A>T (p.Glu925Val)
c.2894A>T (p.Glu965Val)
c.701A>T (p.Glu234Val)
c.*592A>T (n.*592A>T)
c.3005A>T (p.Glu1002Val)
c.3098A>T (p.Glu1033Val)
c.2984A>T (p.Glu995Val)
c.2981A>T (p.Glu994Val)
c.2834A>T (p.Glu945Val)
c.1940A>T (p.Glu647Val)
2g.38996998T>CCA346361459SOS1c.1772A>G (p.Glu591Gly)
n.3012A>G
c.*311A>G (n.*311A>G)
c.2774A>G (p.Glu925Gly)
c.2894A>G (p.Glu965Gly)
c.701A>G (p.Glu234Gly)
c.*592A>G (n.*592A>G)
c.3005A>G (p.Glu1002Gly)
c.3098A>G (p.Glu1033Gly)
c.2984A>G (p.Glu995Gly)
c.2981A>G (p.Glu994Gly)
c.2834A>G (p.Glu945Gly)
c.1940A>G (p.Glu647Gly)
2g.38996998T>GCA346361460SOS1c.1772A>C (p.Glu591Ala)
n.3012A>C
c.*311A>C (n.*311A>C)
c.2774A>C (p.Glu925Ala)
c.2894A>C (p.Glu965Ala)
c.701A>C (p.Glu234Ala)
c.*592A>C (n.*592A>C)
c.3005A>C (p.Glu1002Ala)
c.3098A>C (p.Glu1033Ala)
c.2984A>C (p.Glu995Ala)
c.2981A>C (p.Glu994Ala)
c.2834A>C (p.Glu945Ala)
c.1940A>C (p.Glu647Ala)
2g.38996999C>ACA346361461SOS1c.1771G>T (p.Glu591Ter)
n.3011G>T
c.*310G>T (n.*310G>T)
c.2773G>T (p.Glu925Ter)
c.2893G>T (p.Glu965Ter)
c.700G>T (p.Glu234Ter)
c.*591G>T (n.*591G>T)
c.3004G>T (p.Glu1002Ter)
c.3097G>T (p.Glu1033Ter)
c.2983G>T (p.Glu995Ter)
c.2980G>T (p.Glu994Ter)
c.2833G>T (p.Glu945Ter)
c.1939G>T (p.Glu647Ter)
2g.38996999C>GCA346361462SOS1c.1771G>C (p.Glu591Gln)
n.3011G>C
c.*310G>C (n.*310G>C)
c.2773G>C (p.Glu925Gln)
c.2893G>C (p.Glu965Gln)
c.700G>C (p.Glu234Gln)
c.*591G>C (n.*591G>C)
c.3004G>C (p.Glu1002Gln)
c.3097G>C (p.Glu1033Gln)
c.2983G>C (p.Glu995Gln)
c.2980G>C (p.Glu994Gln)
c.2833G>C (p.Glu945Gln)
c.1939G>C (p.Glu647Gln)
2g.38996999C>TCA346361463SOS1c.1771G>A (p.Glu591Lys)
n.3011G>A
c.*310G>A (n.*310G>A)
c.2773G>A (p.Glu925Lys)
c.2893G>A (p.Glu965Lys)
c.700G>A (p.Glu234Lys)
c.*591G>A (n.*591G>A)
c.3004G>A (p.Glu1002Lys)
c.3097G>A (p.Glu1033Lys)
c.2983G>A (p.Glu995Lys)
c.2980G>A (p.Glu994Lys)
c.2833G>A (p.Glu945Lys)
c.1939G>A (p.Glu647Lys)
2g.38997000C>ACA346361465SOS1c.1770G>T (p.Met590Ile)
n.3010G>T
c.*309G>T (n.*309G>T)
c.2772G>T (p.Met924Ile)
c.2892G>T (p.Met964Ile)
c.699G>T (p.Met233Ile)
c.*590G>T (n.*590G>T)
c.3003G>T (p.Met1001Ile)
c.3096G>T (p.Met1032Ile)
c.2982G>T (p.Met994Ile)
c.2979G>T (p.Met993Ile)
c.2832G>T (p.Met944Ile)
c.1938G>T (p.Met646Ile)
2g.38997000C>GCA346361466SOS1c.1770G>C (p.Met590Ile)
n.3010G>C
c.*309G>C (n.*309G>C)
c.2772G>C (p.Met924Ile)
c.2892G>C (p.Met964Ile)
c.699G>C (p.Met233Ile)
c.*590G>C (n.*590G>C)
c.3003G>C (p.Met1001Ile)
c.3096G>C (p.Met1032Ile)
c.2982G>C (p.Met994Ile)
c.2979G>C (p.Met993Ile)
c.2832G>C (p.Met944Ile)
c.1938G>C (p.Met646Ile)
COSMIC
2g.38997000C>TCA346361464SOS1c.1770G>A (p.Met590Ile)
n.3010G>A
c.*309G>A (n.*309G>A)
c.2772G>A (p.Met924Ile)
c.2892G>A (p.Met964Ile)
c.699G>A (p.Met233Ile)
c.*590G>A (n.*590G>A)
c.3003G>A (p.Met1001Ile)
c.3096G>A (p.Met1032Ile)
c.2982G>A (p.Met994Ile)
c.2979G>A (p.Met993Ile)
c.2832G>A (p.Met944Ile)
c.1938G>A (p.Met646Ile)
gnomAD v4
2g.38997001A>CCA346361467SOS1c.1769T>G (p.Met590Arg)
n.3009T>G
c.*308T>G (n.*308T>G)
c.2771T>G (p.Met924Arg)
c.2891T>G (p.Met964Arg)
c.698T>G (p.Met233Arg)
c.*589T>G (n.*589T>G)
c.3002T>G (p.Met1001Arg)
c.3095T>G (p.Met1032Arg)
c.2981T>G (p.Met994Arg)
c.2978T>G (p.Met993Arg)
c.2831T>G (p.Met944Arg)
c.1937T>G (p.Met646Arg)
2g.38997001A>GCA346361468SOS1c.1769T>C (p.Met590Thr)
n.3009T>C
c.*308T>C (n.*308T>C)
c.2771T>C (p.Met924Thr)
c.2891T>C (p.Met964Thr)
c.698T>C (p.Met233Thr)
c.*589T>C (n.*589T>C)
c.3002T>C (p.Met1001Thr)
c.3095T>C (p.Met1032Thr)
c.2981T>C (p.Met994Thr)
c.2978T>C (p.Met993Thr)
c.2831T>C (p.Met944Thr)
c.1937T>C (p.Met646Thr)
ClinVar dbSNP gnomAD v4
2g.38997001A>TCA346361469SOS1c.1769T>A (p.Met590Lys)
n.3009T>A
c.*308T>A (n.*308T>A)
c.2771T>A (p.Met924Lys)
c.2891T>A (p.Met964Lys)
c.698T>A (p.Met233Lys)
c.*589T>A (n.*589T>A)
c.3002T>A (p.Met1001Lys)
c.3095T>A (p.Met1032Lys)
c.2981T>A (p.Met994Lys)
c.2978T>A (p.Met993Lys)
c.2831T>A (p.Met944Lys)
c.1937T>A (p.Met646Lys)
gnomAD v4
2g.38997002T>ACA346361470SOS1c.1768A>T (p.Met590Leu)
n.3008A>T
c.*307A>T (n.*307A>T)
c.2770A>T (p.Met924Leu)
c.2890A>T (p.Met964Leu)
c.697A>T (p.Met233Leu)
c.*588A>T (n.*588A>T)
c.3001A>T (p.Met1001Leu)
c.3094A>T (p.Met1032Leu)
c.2980A>T (p.Met994Leu)
c.2977A>T (p.Met993Leu)
c.2830A>T (p.Met944Leu)
c.1936A>T (p.Met646Leu)
2g.38997002T>CCA45647357SOS1c.1768A>G (p.Met590Val)
n.3008A>G
c.*307A>G (n.*307A>G)
c.2770A>G (p.Met924Val)
c.2890A>G (p.Met964Val)
c.697A>G (p.Met233Val)
c.*588A>G (n.*588A>G)
c.3001A>G (p.Met1001Val)
c.3094A>G (p.Met1032Val)
c.2980A>G (p.Met994Val)
c.2977A>G (p.Met993Val)
c.2830A>G (p.Met944Val)
c.1936A>G (p.Met646Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38997002T>GCA346361471SOS1c.1768A>C (p.Met590Leu)
n.3008A>C
c.*307A>C (n.*307A>C)
c.2770A>C (p.Met924Leu)
c.2890A>C (p.Met964Leu)
c.697A>C (p.Met233Leu)
c.*588A>C (n.*588A>C)
c.3001A>C (p.Met1001Leu)
c.3094A>C (p.Met1032Leu)
c.2980A>C (p.Met994Leu)
c.2977A>C (p.Met993Leu)
c.2830A>C (p.Met944Leu)
c.1936A>C (p.Met646Leu)
2g.38997002T=CA1246123935SOS1c.1768A= (p.Met590=)
n.3008A=
c.*307A= (n.*307A=)
c.2770A= (p.Met924=)
c.2890A= (p.Met964=)
c.697A= (p.Met233=)
c.*588A= (n.*588A=)
c.3001A= (p.Met1001=)
c.3094A= (p.Met1032=)
c.2980A= (p.Met994=)
c.2977A= (p.Met993=)
c.2830A= (p.Met944=)
c.1936A= (p.Met646=)
2g.38997003G>ACA425866337SOS1c.1767C>T (p.Ser589=)
n.3007C>T
c.*306C>T (n.*306C>T)
c.2769C>T (p.Ser923=)
c.2889C>T (p.Ser963=)
c.696C>T (p.Ser232=)
c.*587C>T (n.*587C>T)
c.3000C>T (p.Ser1000=)
c.3093C>T (p.Ser1031=)
c.2979C>T (p.Ser993=)
c.2976C>T (p.Ser992=)
c.2829C>T (p.Ser943=)
c.1935C>T (p.Ser645=)
gnomAD v4
2g.38997003G>CCA346361473SOS1c.1767C>G (p.Ser589Arg)
n.3007C>G
c.*306C>G (n.*306C>G)
c.2769C>G (p.Ser923Arg)
c.2889C>G (p.Ser963Arg)
c.696C>G (p.Ser232Arg)
c.*587C>G (n.*587C>G)
c.3000C>G (p.Ser1000Arg)
c.3093C>G (p.Ser1031Arg)
c.2979C>G (p.Ser993Arg)
c.2976C>G (p.Ser992Arg)
c.2829C>G (p.Ser943Arg)
c.1935C>G (p.Ser645Arg)
2g.38997003G>TCA346361472SOS1c.1767C>A (p.Ser589Arg)
n.3007C>A
c.*306C>A (n.*306C>A)
c.2769C>A (p.Ser923Arg)
c.2889C>A (p.Ser963Arg)
c.696C>A (p.Ser232Arg)
c.*587C>A (n.*587C>A)
c.3000C>A (p.Ser1000Arg)
c.3093C>A (p.Ser1031Arg)
c.2979C>A (p.Ser993Arg)
c.2976C>A (p.Ser992Arg)
c.2829C>A (p.Ser943Arg)
c.1935C>A (p.Ser645Arg)
gnomAD v4
2g.38997004C>ACA346361474SOS1c.1766G>T (p.Ser589Ile)
n.3006G>T
c.*305G>T (n.*305G>T)
c.2768G>T (p.Ser923Ile)
c.2888G>T (p.Ser963Ile)
c.695G>T (p.Ser232Ile)
c.*586G>T (n.*586G>T)
c.2999G>T (p.Ser1000Ile)
c.3092G>T (p.Ser1031Ile)
c.2978G>T (p.Ser993Ile)
c.2975G>T (p.Ser992Ile)
c.2828G>T (p.Ser943Ile)
c.1934G>T (p.Ser645Ile)
2g.38997004C=CA1246123936SOS1c.1766G= (p.Ser589=)
n.3006G=
c.*305G= (n.*305G=)
c.2768G= (p.Ser923=)
c.2888G= (p.Ser963=)
c.695G= (p.Ser232=)
c.*586G= (n.*586G=)
c.2999G= (p.Ser1000=)
c.3092G= (p.Ser1031=)
c.2978G= (p.Ser993=)
c.2975G= (p.Ser992=)
c.2828G= (p.Ser943=)
c.1934G= (p.Ser645=)
2g.38997004C>GCA346361475SOS1c.1766G>C (p.Ser589Thr)
n.3006G>C
c.*305G>C (n.*305G>C)
c.2768G>C (p.Ser923Thr)
c.2888G>C (p.Ser963Thr)
c.695G>C (p.Ser232Thr)
c.*586G>C (n.*586G>C)
c.2999G>C (p.Ser1000Thr)
c.3092G>C (p.Ser1031Thr)
c.2978G>C (p.Ser993Thr)
c.2975G>C (p.Ser992Thr)
c.2828G>C (p.Ser943Thr)
c.1934G>C (p.Ser645Thr)
2g.38997004C>TCA45647365SOS1c.1766G>A (p.Ser589Asn)
n.3006G>A
c.*305G>A (n.*305G>A)
c.2768G>A (p.Ser923Asn)
c.2888G>A (p.Ser963Asn)
c.695G>A (p.Ser232Asn)
c.*586G>A (n.*586G>A)
c.2999G>A (p.Ser1000Asn)
c.3092G>A (p.Ser1031Asn)
c.2978G>A (p.Ser993Asn)
c.2975G>A (p.Ser992Asn)
c.2828G>A (p.Ser943Asn)
c.1934G>A (p.Ser645Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.38997005T>ACA297222SOS1c.1765A>T (p.Ser589Cys)
n.3005A>T
c.*304A>T (n.*304A>T)
c.2767A>T (p.Ser923Cys)
c.2887A>T (p.Ser963Cys)
c.694A>T (p.Ser232Cys)
c.*585A>T (n.*585A>T)
c.2998A>T (p.Ser1000Cys)
c.3091A>T (p.Ser1031Cys)
c.2977A>T (p.Ser993Cys)
c.2974A>T (p.Ser992Cys)
c.2827A>T (p.Ser943Cys)
c.1933A>T (p.Ser645Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38997005T>CCA1624280SOS1c.1765A>G (p.Ser589Gly)
n.3005A>G
c.*304A>G (n.*304A>G)
c.2767A>G (p.Ser923Gly)
c.2887A>G (p.Ser963Gly)
c.694A>G (p.Ser232Gly)
c.*585A>G (n.*585A>G)
c.2998A>G (p.Ser1000Gly)
c.3091A>G (p.Ser1031Gly)
c.2977A>G (p.Ser993Gly)
c.2974A>G (p.Ser992Gly)
c.2827A>G (p.Ser943Gly)
c.1933A>G (p.Ser645Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.38997005T>GCA346361476SOS1c.1765A>C (p.Ser589Arg)
n.3005A>C
c.*304A>C (n.*304A>C)
c.2767A>C (p.Ser923Arg)
c.2887A>C (p.Ser963Arg)
c.694A>C (p.Ser232Arg)
c.*585A>C (n.*585A>C)
c.2998A>C (p.Ser1000Arg)
c.3091A>C (p.Ser1031Arg)
c.2977A>C (p.Ser993Arg)
c.2974A>C (p.Ser992Arg)
c.2827A>C (p.Ser943Arg)
c.1933A>C (p.Ser645Arg)
2g.38997005T=CA1246123937SOS1c.1765A= (p.Ser589=)
n.3005A=
c.*304A= (n.*304A=)
c.2767A= (p.Ser923=)
c.2887A= (p.Ser963=)
c.694A= (p.Ser232=)
c.*585A= (n.*585A=)
c.2998A= (p.Ser1000=)
c.3091A= (p.Ser1031=)
c.2977A= (p.Ser993=)
c.2974A= (p.Ser992=)
c.2827A= (p.Ser943=)
c.1933A= (p.Ser645=)
2g.38997006A=CA1246123938SOS1c.1764T= (p.Asn588=)
n.3004T=
c.*303T= (n.*303T=)
c.2766T= (p.Asn922=)
c.2886T= (p.Asn962=)
c.693T= (p.Asn231=)
c.*584T= (n.*584T=)
c.2997T= (p.Asn999=)
c.3090T= (p.Asn1030=)
c.2976T= (p.Asn992=)
c.2973T= (p.Asn991=)
c.2826T= (p.Asn942=)
c.1932T= (p.Asn644=)
2g.38997006A>CCA346361477SOS1c.1764T>G (p.Asn588Lys)
n.3004T>G
c.*303T>G (n.*303T>G)
c.2766T>G (p.Asn922Lys)
c.2886T>G (p.Asn962Lys)
c.693T>G (p.Asn231Lys)
c.*584T>G (n.*584T>G)
c.2997T>G (p.Asn999Lys)
c.3090T>G (p.Asn1030Lys)
c.2976T>G (p.Asn992Lys)
c.2973T>G (p.Asn991Lys)
c.2826T>G (p.Asn942Lys)
c.1932T>G (p.Asn644Lys)
2g.38997006A>GCA136126SOS1c.1764T>C (p.Asn588=)
n.3004T>C
c.*303T>C (n.*303T>C)
c.2766T>C (p.Asn922=)
c.2886T>C (p.Asn962=)
c.693T>C (p.Asn231=)
c.*584T>C (n.*584T>C)
c.2997T>C (p.Asn999=)
c.3090T>C (p.Asn1030=)
c.2976T>C (p.Asn992=)
c.2973T>C (p.Asn991=)
c.2826T>C (p.Asn942=)
c.1932T>C (p.Asn644=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38997006A>TCA346361478SOS1c.1764T>A (p.Asn588Lys)
n.3004T>A
c.*303T>A (n.*303T>A)
c.2766T>A (p.Asn922Lys)
c.2886T>A (p.Asn962Lys)
c.693T>A (p.Asn231Lys)
c.*584T>A (n.*584T>A)
c.2997T>A (p.Asn999Lys)
c.3090T>A (p.Asn1030Lys)
c.2976T>A (p.Asn992Lys)
c.2973T>A (p.Asn991Lys)
c.2826T>A (p.Asn942Lys)
c.1932T>A (p.Asn644Lys)
2g.38997007T>ACA346361479SOS1c.1763A>T (p.Asn588Ile)
n.3003A>T
c.*302A>T (n.*302A>T)
c.2765A>T (p.Asn922Ile)
c.2885A>T (p.Asn962Ile)
c.692A>T (p.Asn231Ile)
c.*583A>T (n.*583A>T)
c.2996A>T (p.Asn999Ile)
c.3089A>T (p.Asn1030Ile)
c.2975A>T (p.Asn992Ile)
c.2972A>T (p.Asn991Ile)
c.2825A>T (p.Asn942Ile)
c.1931A>T (p.Asn644Ile)
2g.38997007T>CCA1624281SOS1c.1763A>G (p.Asn588Ser)
n.3003A>G
c.*302A>G (n.*302A>G)
c.2765A>G (p.Asn922Ser)
c.2885A>G (p.Asn962Ser)
c.692A>G (p.Asn231Ser)
c.*583A>G (n.*583A>G)
c.2996A>G (p.Asn999Ser)
c.3089A>G (p.Asn1030Ser)
c.2975A>G (p.Asn992Ser)
c.2972A>G (p.Asn991Ser)
c.2825A>G (p.Asn942Ser)
c.1931A>G (p.Asn644Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38997007T>GCA346361480SOS1c.1763A>C (p.Asn588Thr)
n.3003A>C
c.*302A>C (n.*302A>C)
c.2765A>C (p.Asn922Thr)
c.2885A>C (p.Asn962Thr)
c.692A>C (p.Asn231Thr)
c.*583A>C (n.*583A>C)
c.2996A>C (p.Asn999Thr)
c.3089A>C (p.Asn1030Thr)
c.2975A>C (p.Asn992Thr)
c.2972A>C (p.Asn991Thr)
c.2825A>C (p.Asn942Thr)
c.1931A>C (p.Asn644Thr)
2g.38997007T=CA1246123939SOS1c.1763A= (p.Asn588=)
n.3003A=
c.*302A= (n.*302A=)
c.2765A= (p.Asn922=)
c.2885A= (p.Asn962=)
c.692A= (p.Asn231=)
c.*583A= (n.*583A=)
c.2996A= (p.Asn999=)
c.3089A= (p.Asn1030=)
c.2975A= (p.Asn992=)
c.2972A= (p.Asn991=)
c.2825A= (p.Asn942=)
c.1931A= (p.Asn644=)
2g.38997008T>ACA346361481SOS1c.1762A>T (p.Asn588Tyr)
n.3002A>T
c.*301A>T (n.*301A>T)
c.2764A>T (p.Asn922Tyr)
c.2884A>T (p.Asn962Tyr)
c.691A>T (p.Asn231Tyr)
c.*582A>T (n.*582A>T)
c.2995A>T (p.Asn999Tyr)
c.3088A>T (p.Asn1030Tyr)
c.2974A>T (p.Asn992Tyr)
c.2971A>T (p.Asn991Tyr)
c.2824A>T (p.Asn942Tyr)
c.1930A>T (p.Asn644Tyr)
2g.38997008T>CCA346361482SOS1c.1762A>G (p.Asn588Asp)
n.3002A>G
c.*301A>G (n.*301A>G)
c.2764A>G (p.Asn922Asp)
c.2884A>G (p.Asn962Asp)
c.691A>G (p.Asn231Asp)
c.*582A>G (n.*582A>G)
c.2995A>G (p.Asn999Asp)
c.3088A>G (p.Asn1030Asp)
c.2974A>G (p.Asn992Asp)
c.2971A>G (p.Asn991Asp)
c.2824A>G (p.Asn942Asp)
c.1930A>G (p.Asn644Asp)
gnomAD v4
2g.38997008T>GCA346361483SOS1c.1762A>C (p.Asn588His)
n.3002A>C
c.*301A>C (n.*301A>C)
c.2764A>C (p.Asn922His)
c.2884A>C (p.Asn962His)
c.691A>C (p.Asn231His)
c.*582A>C (n.*582A>C)
c.2995A>C (p.Asn999His)
c.3088A>C (p.Asn1030His)
c.2974A>C (p.Asn992His)
c.2971A>C (p.Asn991His)
c.2824A>C (p.Asn942His)
c.1930A>C (p.Asn644His)
2g.38997009T>ACA425866344SOS1c.1761A>T (p.Gly587=)
n.3001A>T
c.*300A>T (n.*300A>T)
c.2763A>T (p.Gly921=)
c.2883A>T (p.Gly961=)
c.690A>T (p.Gly230=)
c.*581A>T (n.*581A>T)
c.2994A>T (p.Gly998=)
c.3087A>T (p.Gly1029=)
c.2973A>T (p.Gly991=)
c.2970A>T (p.Gly990=)
c.2823A>T (p.Gly941=)
c.1929A>T (p.Gly643=)
2g.38997009T>CCA425866345SOS1c.1761A>G (p.Gly587=)
n.3001A>G
c.*300A>G (n.*300A>G)
c.2763A>G (p.Gly921=)
c.2883A>G (p.Gly961=)
c.690A>G (p.Gly230=)
c.*581A>G (n.*581A>G)
c.2994A>G (p.Gly998=)
c.3087A>G (p.Gly1029=)
c.2973A>G (p.Gly991=)
c.2970A>G (p.Gly990=)
c.2823A>G (p.Gly941=)
c.1929A>G (p.Gly643=)
2g.38997009T>GCA425866343SOS1c.1761A>C (p.Gly587=)
n.3001A>C
c.*300A>C (n.*300A>C)
c.2763A>C (p.Gly921=)
c.2883A>C (p.Gly961=)
c.690A>C (p.Gly230=)
c.*581A>C (n.*581A>C)
c.2994A>C (p.Gly998=)
c.3087A>C (p.Gly1029=)
c.2973A>C (p.Gly991=)
c.2970A>C (p.Gly990=)
c.2823A>C (p.Gly941=)
c.1929A>C (p.Gly643=)
gnomAD v4
2g.38997010C>ACA346361484SOS1c.1760G>T (p.Gly587Val)
n.3000G>T
c.*299G>T (n.*299G>T)
c.2762G>T (p.Gly921Val)
c.2882G>T (p.Gly961Val)
c.689G>T (p.Gly230Val)
c.*580G>T (n.*580G>T)
c.2993G>T (p.Gly998Val)
c.3086G>T (p.Gly1029Val)
c.2972G>T (p.Gly991Val)
c.2969G>T (p.Gly990Val)
c.2822G>T (p.Gly941Val)
c.1928G>T (p.Gly643Val)
2g.38997010C>GCA346361485SOS1c.1760G>C (p.Gly587Ala)
n.3000G>C
c.*299G>C (n.*299G>C)
c.2762G>C (p.Gly921Ala)
c.2882G>C (p.Gly961Ala)
c.689G>C (p.Gly230Ala)
c.*580G>C (n.*580G>C)
c.2993G>C (p.Gly998Ala)
c.3086G>C (p.Gly1029Ala)
c.2972G>C (p.Gly991Ala)
c.2969G>C (p.Gly990Ala)
c.2822G>C (p.Gly941Ala)
c.1928G>C (p.Gly643Ala)
2g.38997010C>TCA346361486SOS1c.1760G>A (p.Gly587Glu)
n.3000G>A
c.*299G>A (n.*299G>A)
c.2762G>A (p.Gly921Glu)
c.2882G>A (p.Gly961Glu)
c.689G>A (p.Gly230Glu)
c.*580G>A (n.*580G>A)
c.2993G>A (p.Gly998Glu)
c.3086G>A (p.Gly1029Glu)
c.2972G>A (p.Gly991Glu)
c.2969G>A (p.Gly990Glu)
c.2822G>A (p.Gly941Glu)
c.1928G>A (p.Gly643Glu)
gnomAD v4
2g.38997012delCA2658713215SOS1c.1760del (p.Gly587GlufsTer17)
n.3000del
c.*299del (n.*299del)
c.2762del (p.Gly921GlufsTer17)
c.2882del (p.Gly961GlufsTer17)
c.689del (p.Gly230GlufsTer17)
c.*580del (n.*580del)
c.2993del (p.Gly998GlufsTer17)
c.3086del (p.Gly1029GlufsTer17)
c.2972del (p.Gly991GlufsTer17)
c.2969del (p.Gly990GlufsTer17)
c.2822del (p.Gly941GlufsTer17)
c.1928del (p.Gly643GlufsTer17)
gnomAD v4
2g.38997011C>ACA346361487SOS1c.1759G>T (p.Gly587Ter)
n.2999G>T
c.*298G>T (n.*298G>T)
c.2761G>T (p.Gly921Ter)
c.2881G>T (p.Gly961Ter)
c.688G>T (p.Gly230Ter)
c.*579G>T (n.*579G>T)
c.2992G>T (p.Gly998Ter)
c.3085G>T (p.Gly1029Ter)
c.2971G>T (p.Gly991Ter)
c.2968G>T (p.Gly990Ter)
c.2821G>T (p.Gly941Ter)
c.1927G>T (p.Gly643Ter)
gnomAD v4
2g.38997011C>GCA346361488SOS1c.1759G>C (p.Gly587Arg)
n.2999G>C
c.*298G>C (n.*298G>C)
c.2761G>C (p.Gly921Arg)
c.2881G>C (p.Gly961Arg)
c.688G>C (p.Gly230Arg)
c.*579G>C (n.*579G>C)
c.2992G>C (p.Gly998Arg)
c.3085G>C (p.Gly1029Arg)
c.2971G>C (p.Gly991Arg)
c.2968G>C (p.Gly990Arg)
c.2821G>C (p.Gly941Arg)
c.1927G>C (p.Gly643Arg)
2g.38997011C>TCA346361489SOS1c.1759G>A (p.Gly587Arg)
n.2999G>A
c.*298G>A (n.*298G>A)
c.2761G>A (p.Gly921Arg)
c.2881G>A (p.Gly961Arg)
c.688G>A (p.Gly230Arg)
c.*579G>A (n.*579G>A)
c.2992G>A (p.Gly998Arg)
c.3085G>A (p.Gly1029Arg)
c.2971G>A (p.Gly991Arg)
c.2968G>A (p.Gly990Arg)
c.2821G>A (p.Gly941Arg)
c.1927G>A (p.Gly643Arg)
2g.38997012C>ACA346361491SOS1c.1758G>T (p.Met586Ile)
n.2998G>T
c.*297G>T (n.*297G>T)
c.2760G>T (p.Met920Ile)
c.2880G>T (p.Met960Ile)
c.687G>T (p.Met229Ile)
c.*578G>T (n.*578G>T)
c.2991G>T (p.Met997Ile)
c.3084G>T (p.Met1028Ile)
c.2970G>T (p.Met990Ile)
c.2967G>T (p.Met989Ile)
c.2820G>T (p.Met940Ile)
c.1926G>T (p.Met642Ile)
2g.38997012C>GCA346361492SOS1c.1758G>C (p.Met586Ile)
n.2998G>C
c.*297G>C (n.*297G>C)
c.2760G>C (p.Met920Ile)
c.2880G>C (p.Met960Ile)
c.687G>C (p.Met229Ile)
c.*578G>C (n.*578G>C)
c.2991G>C (p.Met997Ile)
c.3084G>C (p.Met1028Ile)
c.2970G>C (p.Met990Ile)
c.2967G>C (p.Met989Ile)
c.2820G>C (p.Met940Ile)
c.1926G>C (p.Met642Ile)
2g.38997012C>TCA346361490SOS1c.1758G>A (p.Met586Ile)
n.2998G>A
c.*297G>A (n.*297G>A)
c.2760G>A (p.Met920Ile)
c.2880G>A (p.Met960Ile)
c.687G>A (p.Met229Ile)
c.*578G>A (n.*578G>A)
c.2991G>A (p.Met997Ile)
c.3084G>A (p.Met1028Ile)
c.2970G>A (p.Met990Ile)
c.2967G>A (p.Met989Ile)
c.2820G>A (p.Met940Ile)
c.1926G>A (p.Met642Ile)
2g.38997013A=CA1246123940SOS1c.1757T= (p.Met586=)
n.2997T=
c.*296T= (n.*296T=)
c.2759T= (p.Met920=)
c.2879T= (p.Met960=)
c.686T= (p.Met229=)
c.*577T= (n.*577T=)
c.2990T= (p.Met997=)
c.3083T= (p.Met1028=)
c.2969T= (p.Met990=)
c.2966T= (p.Met989=)
c.2819T= (p.Met940=)
c.1925T= (p.Met642=)
2g.38997013A>CCA346361495SOS1c.1757T>G (p.Met586Arg)
n.2997T>G
c.*296T>G (n.*296T>G)
c.2759T>G (p.Met920Arg)
c.2879T>G (p.Met960Arg)
c.686T>G (p.Met229Arg)
c.*577T>G (n.*577T>G)
c.2990T>G (p.Met997Arg)
c.3083T>G (p.Met1028Arg)
c.2969T>G (p.Met990Arg)
c.2966T>G (p.Met989Arg)
c.2819T>G (p.Met940Arg)
c.1925T>G (p.Met642Arg)
2g.38997013A>GCA346361493SOS1c.1757T>C (p.Met586Thr)
n.2997T>C
c.*296T>C (n.*296T>C)
c.2759T>C (p.Met920Thr)
c.2879T>C (p.Met960Thr)
c.686T>C (p.Met229Thr)
c.*577T>C (n.*577T>C)
c.2990T>C (p.Met997Thr)
c.3083T>C (p.Met1028Thr)
c.2969T>C (p.Met990Thr)
c.2966T>C (p.Met989Thr)
c.2819T>C (p.Met940Thr)
c.1925T>C (p.Met642Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38997013A>TCA346361494SOS1c.1757T>A (p.Met586Lys)
n.2997T>A
c.*296T>A (n.*296T>A)
c.2759T>A (p.Met920Lys)
c.2879T>A (p.Met960Lys)
c.686T>A (p.Met229Lys)
c.*577T>A (n.*577T>A)
c.2990T>A (p.Met997Lys)
c.3083T>A (p.Met1028Lys)
c.2969T>A (p.Met990Lys)
c.2966T>A (p.Met989Lys)
c.2819T>A (p.Met940Lys)
c.1925T>A (p.Met642Lys)
2g.38997014T>ACA346361496SOS1c.1756A>T (p.Met586Leu)
n.2996A>T
c.*295A>T (n.*295A>T)
c.2758A>T (p.Met920Leu)
c.2878A>T (p.Met960Leu)
c.685A>T (p.Met229Leu)
c.*576A>T (n.*576A>T)
c.2989A>T (p.Met997Leu)
c.3082A>T (p.Met1028Leu)
c.2968A>T (p.Met990Leu)
c.2965A>T (p.Met989Leu)
c.2818A>T (p.Met940Leu)
c.1924A>T (p.Met642Leu)
2g.38997014T>CCA346361497SOS1c.1756A>G (p.Met586Val)
n.2996A>G
c.*295A>G (n.*295A>G)
c.2758A>G (p.Met920Val)
c.2878A>G (p.Met960Val)
c.685A>G (p.Met229Val)
c.*576A>G (n.*576A>G)
c.2989A>G (p.Met997Val)
c.3082A>G (p.Met1028Val)
c.2968A>G (p.Met990Val)
c.2965A>G (p.Met989Val)
c.2818A>G (p.Met940Val)
c.1924A>G (p.Met642Val)
2g.38997014T>GCA346361498SOS1c.1756A>C (p.Met586Leu)
n.2996A>C
c.*295A>C (n.*295A>C)
c.2758A>C (p.Met920Leu)
c.2878A>C (p.Met960Leu)
c.685A>C (p.Met229Leu)
c.*576A>C (n.*576A>C)
c.2989A>C (p.Met997Leu)
c.3082A>C (p.Met1028Leu)
c.2968A>C (p.Met990Leu)
c.2965A>C (p.Met989Leu)
c.2818A>C (p.Met940Leu)
c.1924A>C (p.Met642Leu)
2g.38997015C>ACA425866359SOS1c.1755G>T (p.Pro585=)
n.2995G>T
c.*294G>T (n.*294G>T)
c.2757G>T (p.Pro919=)
c.2877G>T (p.Pro959=)
c.684G>T (p.Pro228=)
c.*575G>T (n.*575G>T)
c.2988G>T (p.Pro996=)
c.3081G>T (p.Pro1027=)
c.2967G>T (p.Pro989=)
c.2964G>T (p.Pro988=)
c.2817G>T (p.Pro939=)
c.1923G>T (p.Pro641=)
gnomAD v4
2g.38997015C=CA1246123941SOS1c.1755G= (p.Pro585=)
n.2995G=
c.*294G= (n.*294G=)
c.2757G= (p.Pro919=)
c.2877G= (p.Pro959=)
c.684G= (p.Pro228=)
c.*575G= (n.*575G=)
c.2988G= (p.Pro996=)
c.3081G= (p.Pro1027=)
c.2967G= (p.Pro989=)
c.2964G= (p.Pro988=)
c.2817G= (p.Pro939=)
c.1923G= (p.Pro641=)
2g.38997015C>GCA425866360SOS1c.1755G>C (p.Pro585=)
n.2995G>C
c.*294G>C (n.*294G>C)
c.2757G>C (p.Pro919=)
c.2877G>C (p.Pro959=)
c.684G>C (p.Pro228=)
c.*575G>C (n.*575G>C)
c.2988G>C (p.Pro996=)
c.3081G>C (p.Pro1027=)
c.2967G>C (p.Pro989=)
c.2964G>C (p.Pro988=)
c.2817G>C (p.Pro939=)
c.1923G>C (p.Pro641=)
2g.38997015C>TCA136123SOS1c.1755G>A (p.Pro585=)
n.2995G>A
c.*294G>A (n.*294G>A)
c.2757G>A (p.Pro919=)
c.2877G>A (p.Pro959=)
c.684G>A (p.Pro228=)
c.*575G>A (n.*575G>A)
c.2988G>A (p.Pro996=)
c.3081G>A (p.Pro1027=)
c.2967G>A (p.Pro989=)
c.2964G>A (p.Pro988=)
c.2817G>A (p.Pro939=)
c.1923G>A (p.Pro641=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38997016G>ACA1624282SOS1c.1754C>T (p.Pro585Leu)
n.2994C>T
c.*293C>T (n.*293C>T)
c.2756C>T (p.Pro919Leu)
c.2876C>T (p.Pro959Leu)
c.683C>T (p.Pro228Leu)
c.*574C>T (n.*574C>T)
c.2987C>T (p.Pro996Leu)
c.3080C>T (p.Pro1027Leu)
c.2966C>T (p.Pro989Leu)
c.2963C>T (p.Pro988Leu)
c.2816C>T (p.Pro939Leu)
c.1922C>T (p.Pro641Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.38997016G>CCA346361499SOS1c.1754C>G (p.Pro585Arg)
n.2994C>G
c.*293C>G (n.*293C>G)
c.2756C>G (p.Pro919Arg)
c.2876C>G (p.Pro959Arg)
c.683C>G (p.Pro228Arg)
c.*574C>G (n.*574C>G)
c.2987C>G (p.Pro996Arg)
c.3080C>G (p.Pro1027Arg)
c.2966C>G (p.Pro989Arg)
c.2963C>G (p.Pro988Arg)
c.2816C>G (p.Pro939Arg)
c.1922C>G (p.Pro641Arg)
2g.38997016G=CA1246123942SOS1c.1754C= (p.Pro585=)
n.2994C=
c.*293C= (n.*293C=)
c.2756C= (p.Pro919=)
c.2876C= (p.Pro959=)
c.683C= (p.Pro228=)
c.*574C= (n.*574C=)
c.2987C= (p.Pro996=)
c.3080C= (p.Pro1027=)
c.2966C= (p.Pro989=)
c.2963C= (p.Pro988=)
c.2816C= (p.Pro939=)
c.1922C= (p.Pro641=)
2g.38997016G>TCA346361500SOS1c.1754C>A (p.Pro585Gln)
n.2994C>A
c.*293C>A (n.*293C>A)
c.2756C>A (p.Pro919Gln)
c.2876C>A (p.Pro959Gln)
c.683C>A (p.Pro228Gln)
c.*574C>A (n.*574C>A)
c.2987C>A (p.Pro996Gln)
c.3080C>A (p.Pro1027Gln)
c.2966C>A (p.Pro989Gln)
c.2963C>A (p.Pro988Gln)
c.2816C>A (p.Pro939Gln)
c.1922C>A (p.Pro641Gln)
gnomAD v4
2g.38997017G>ACA346361501SOS1c.1753C>T (p.Pro585Ser)
n.2993C>T
c.*292C>T (n.*292C>T)
c.2755C>T (p.Pro919Ser)
c.2875C>T (p.Pro959Ser)
c.682C>T (p.Pro228Ser)
c.*573C>T (n.*573C>T)
c.2986C>T (p.Pro996Ser)
c.3079C>T (p.Pro1027Ser)
c.2965C>T (p.Pro989Ser)
c.2962C>T (p.Pro988Ser)
c.2815C>T (p.Pro939Ser)
c.1921C>T (p.Pro641Ser)
2g.38997017G>CCA346361502SOS1c.1753C>G (p.Pro585Ala)
n.2993C>G
c.*292C>G (n.*292C>G)
c.2755C>G (p.Pro919Ala)
c.2875C>G (p.Pro959Ala)
c.682C>G (p.Pro228Ala)
c.*573C>G (n.*573C>G)
c.2986C>G (p.Pro996Ala)
c.3079C>G (p.Pro1027Ala)
c.2965C>G (p.Pro989Ala)
c.2962C>G (p.Pro988Ala)
c.2815C>G (p.Pro939Ala)
c.1921C>G (p.Pro641Ala)
gnomAD v4
2g.38997017G>TCA346361503SOS1c.1753C>A (p.Pro585Thr)
n.2993C>A
c.*292C>A (n.*292C>A)
c.2755C>A (p.Pro919Thr)
c.2875C>A (p.Pro959Thr)
c.682C>A (p.Pro228Thr)
c.*573C>A (n.*573C>A)
c.2986C>A (p.Pro996Thr)
c.3079C>A (p.Pro1027Thr)
c.2965C>A (p.Pro989Thr)
c.2962C>A (p.Pro988Thr)
c.2815C>A (p.Pro939Thr)
c.1921C>A (p.Pro641Thr)
gnomAD v4
2g.38997018A>CCA346361504SOS1c.1752T>G (p.Asn584Lys)
n.2992T>G
c.*291T>G (n.*291T>G)
c.2754T>G (p.Asn918Lys)
c.2874T>G (p.Asn958Lys)
c.681T>G (p.Asn227Lys)
c.*572T>G (n.*572T>G)
c.2985T>G (p.Asn995Lys)
c.3078T>G (p.Asn1026Lys)
c.2964T>G (p.Asn988Lys)
c.2961T>G (p.Asn987Lys)
c.2814T>G (p.Asn938Lys)
c.1920T>G (p.Asn640Lys)
2g.38997018A>GCA425866365SOS1c.1752T>C (p.Asn584=)
n.2992T>C
c.*291T>C (n.*291T>C)
c.2754T>C (p.Asn918=)
c.2874T>C (p.Asn958=)
c.681T>C (p.Asn227=)
c.*572T>C (n.*572T>C)
c.2985T>C (p.Asn995=)
c.3078T>C (p.Asn1026=)
c.2964T>C (p.Asn988=)
c.2961T>C (p.Asn987=)
c.2814T>C (p.Asn938=)
c.1920T>C (p.Asn640=)
2g.38997018A>TCA346361505SOS1c.1752T>A (p.Asn584Lys)
n.2992T>A
c.*291T>A (n.*291T>A)
c.2754T>A (p.Asn918Lys)
c.2874T>A (p.Asn958Lys)
c.681T>A (p.Asn227Lys)
c.*572T>A (n.*572T>A)
c.2985T>A (p.Asn995Lys)
c.3078T>A (p.Asn1026Lys)
c.2964T>A (p.Asn988Lys)
c.2961T>A (p.Asn987Lys)
c.2814T>A (p.Asn938Lys)
c.1920T>A (p.Asn640Lys)
gnomAD v4
2g.38997019T>ACA346361508SOS1c.1751A>T (p.Asn584Ile)
n.2991A>T
c.*290A>T (n.*290A>T)
c.2753A>T (p.Asn918Ile)
c.2873A>T (p.Asn958Ile)
c.680A>T (p.Asn227Ile)
c.*571A>T (n.*571A>T)
c.2984A>T (p.Asn995Ile)
c.3077A>T (p.Asn1026Ile)
c.2963A>T (p.Asn988Ile)
c.2960A>T (p.Asn987Ile)
c.2813A>T (p.Asn938Ile)
c.1919A>T (p.Asn640Ile)
2g.38997019T>CCA346361506SOS1c.1751A>G (p.Asn584Ser)
n.2991A>G
c.*290A>G (n.*290A>G)
c.2753A>G (p.Asn918Ser)
c.2873A>G (p.Asn958Ser)
c.680A>G (p.Asn227Ser)
c.*571A>G (n.*571A>G)
c.2984A>G (p.Asn995Ser)
c.3077A>G (p.Asn1026Ser)
c.2963A>G (p.Asn988Ser)
c.2960A>G (p.Asn987Ser)
c.2813A>G (p.Asn938Ser)
c.1919A>G (p.Asn640Ser)
2g.38997019T>GCA346361507SOS1c.1751A>C (p.Asn584Thr)
n.2991A>C
c.*290A>C (n.*290A>C)
c.2753A>C (p.Asn918Thr)
c.2873A>C (p.Asn958Thr)
c.680A>C (p.Asn227Thr)
c.*571A>C (n.*571A>C)
c.2984A>C (p.Asn995Thr)
c.3077A>C (p.Asn1026Thr)
c.2963A>C (p.Asn988Thr)
c.2960A>C (p.Asn987Thr)
c.2813A>C (p.Asn938Thr)
c.1919A>C (p.Asn640Thr)
2g.38997024_38997031delCA645529318SOS1c.1744_1751del (p.Asn582SerfsTer5)
n.2984_2991del
c.*283_*290del (n.*283_*290del)
c.2746_2753del (p.Asn916SerfsTer5)
c.2866_2873del (p.Asn956SerfsTer5)
c.673_680del (p.Asn225SerfsTer5)
c.*564_*571del (n.*564_*571del)
c.2977_2984del (p.Asn993SerfsTer5)
c.3070_3077del (p.Asn1024SerfsTer5)
c.2956_2963del (p.Asn986SerfsTer5)
c.2953_2960del (p.Asn985SerfsTer5)
c.2806_2813del (p.Asn936SerfsTer5)
c.1912_1919del (p.Asn638SerfsTer5)
COSMIC
2g.38997020T>ACA346361509SOS1c.1750A>T (p.Asn584Tyr)
n.2990A>T
c.*289A>T (n.*289A>T)
c.2752A>T (p.Asn918Tyr)
c.2872A>T (p.Asn958Tyr)
c.679A>T (p.Asn227Tyr)
c.*570A>T (n.*570A>T)
c.2983A>T (p.Asn995Tyr)
c.3076A>T (p.Asn1026Tyr)
c.2962A>T (p.Asn988Tyr)
c.2959A>T (p.Asn987Tyr)
c.2812A>T (p.Asn938Tyr)
c.1918A>T (p.Asn640Tyr)
2g.38997020T>CCA346361510SOS1c.1750A>G (p.Asn584Asp)
n.2990A>G
c.*289A>G (n.*289A>G)
c.2752A>G (p.Asn918Asp)
c.2872A>G (p.Asn958Asp)
c.679A>G (p.Asn227Asp)
c.*570A>G (n.*570A>G)
c.2983A>G (p.Asn995Asp)
c.3076A>G (p.Asn1026Asp)
c.2962A>G (p.Asn988Asp)
c.2959A>G (p.Asn987Asp)
c.2812A>G (p.Asn938Asp)
c.1918A>G (p.Asn640Asp)
2g.38997020T>GCA346361511SOS1c.1750A>C (p.Asn584His)
n.2990A>C
c.*289A>C (n.*289A>C)
c.2752A>C (p.Asn918His)
c.2872A>C (p.Asn958His)
c.679A>C (p.Asn227His)
c.*570A>C (n.*570A>C)
c.2983A>C (p.Asn995His)
c.3076A>C (p.Asn1026His)
c.2962A>C (p.Asn988His)
c.2959A>C (p.Asn987His)
c.2812A>C (p.Asn938His)
c.1918A>C (p.Asn640His)
2g.38997021C>ACA346361512SOS1c.1749G>T (p.Leu583Phe)
n.2989G>T
c.*288G>T (n.*288G>T)
c.2751G>T (p.Leu917Phe)
c.2871G>T (p.Leu957Phe)
c.678G>T (p.Leu226Phe)
c.*569G>T (n.*569G>T)
c.2982G>T (p.Leu994Phe)
c.3075G>T (p.Leu1025Phe)
c.2961G>T (p.Leu987Phe)
c.2958G>T (p.Leu986Phe)
c.2811G>T (p.Leu937Phe)
c.1917G>T (p.Leu639Phe)
2g.38997021C>GCA346361513SOS1c.1749G>C (p.Leu583Phe)
n.2989G>C
c.*288G>C (n.*288G>C)
c.2751G>C (p.Leu917Phe)
c.2871G>C (p.Leu957Phe)
c.678G>C (p.Leu226Phe)
c.*569G>C (n.*569G>C)
c.2982G>C (p.Leu994Phe)
c.3075G>C (p.Leu1025Phe)
c.2961G>C (p.Leu987Phe)
c.2958G>C (p.Leu986Phe)
c.2811G>C (p.Leu937Phe)
c.1917G>C (p.Leu639Phe)
2g.38997021C>TCA425866371SOS1c.1749G>A (p.Leu583=)
n.2989G>A
c.*288G>A (n.*288G>A)
c.2751G>A (p.Leu917=)
c.2871G>A (p.Leu957=)
c.678G>A (p.Leu226=)
c.*569G>A (n.*569G>A)
c.2982G>A (p.Leu994=)
c.3075G>A (p.Leu1025=)
c.2961G>A (p.Leu987=)
c.2958G>A (p.Leu986=)
c.2811G>A (p.Leu937=)
c.1917G>A (p.Leu639=)
2g.38997022A>CCA346361514SOS1c.1748T>G (p.Leu583Trp)
n.2988T>G
c.*287T>G (n.*287T>G)
c.2750T>G (p.Leu917Trp)
c.2870T>G (p.Leu957Trp)
c.677T>G (p.Leu226Trp)
c.*568T>G (n.*568T>G)
c.2981T>G (p.Leu994Trp)
c.3074T>G (p.Leu1025Trp)
c.2960T>G (p.Leu987Trp)
c.2957T>G (p.Leu986Trp)
c.2810T>G (p.Leu937Trp)
c.1916T>G (p.Leu639Trp)
gnomAD v4
2g.38997022A>GCA346361515SOS1c.1748T>C (p.Leu583Ser)
n.2988T>C
c.*287T>C (n.*287T>C)
c.2750T>C (p.Leu917Ser)
c.2870T>C (p.Leu957Ser)
c.677T>C (p.Leu226Ser)
c.*568T>C (n.*568T>C)
c.2981T>C (p.Leu994Ser)
c.3074T>C (p.Leu1025Ser)
c.2960T>C (p.Leu987Ser)
c.2957T>C (p.Leu986Ser)
c.2810T>C (p.Leu937Ser)
c.1916T>C (p.Leu639Ser)
gnomAD v4
2g.38997022A>TCA346361516SOS1c.1748T>A (p.Leu583Ter)
n.2988T>A
c.*287T>A (n.*287T>A)
c.2750T>A (p.Leu917Ter)
c.2870T>A (p.Leu957Ter)
c.677T>A (p.Leu226Ter)
c.*568T>A (n.*568T>A)
c.2981T>A (p.Leu994Ter)
c.3074T>A (p.Leu1025Ter)
c.2960T>A (p.Leu987Ter)
c.2957T>A (p.Leu986Ter)
c.2810T>A (p.Leu937Ter)
c.1916T>A (p.Leu639Ter)
2g.38997023A>CCA346361517SOS1c.1747T>G (p.Leu583Val)
n.2987T>G
c.*286T>G (n.*286T>G)
c.2749T>G (p.Leu917Val)
c.2869T>G (p.Leu957Val)
c.676T>G (p.Leu226Val)
c.*567T>G (n.*567T>G)
c.2980T>G (p.Leu994Val)
c.3073T>G (p.Leu1025Val)
c.2959T>G (p.Leu987Val)
c.2956T>G (p.Leu986Val)
c.2809T>G (p.Leu937Val)
c.1915T>G (p.Leu639Val)
ClinVar gnomAD v4
2g.38997023A>GCA425866375SOS1c.1747T>C (p.Leu583=)
n.2987T>C
c.*286T>C (n.*286T>C)
c.2749T>C (p.Leu917=)
c.2869T>C (p.Leu957=)
c.676T>C (p.Leu226=)
c.*567T>C (n.*567T>C)
c.2980T>C (p.Leu994=)
c.3073T>C (p.Leu1025=)
c.2959T>C (p.Leu987=)
c.2956T>C (p.Leu986=)
c.2809T>C (p.Leu937=)
c.1915T>C (p.Leu639=)
gnomAD v4
2g.38997023A>TCA346361518SOS1c.1747T>A (p.Leu583Met)
n.2987T>A
c.*286T>A (n.*286T>A)
c.2749T>A (p.Leu917Met)
c.2869T>A (p.Leu957Met)
c.676T>A (p.Leu226Met)
c.*567T>A (n.*567T>A)
c.2980T>A (p.Leu994Met)
c.3073T>A (p.Leu1025Met)
c.2959T>A (p.Leu987Met)
c.2956T>A (p.Leu986Met)
c.2809T>A (p.Leu937Met)
c.1915T>A (p.Leu639Met)
gnomAD v4
2g.38997024G>ACA425866376SOS1c.1746C>T (p.Asn582=)
n.2986C>T
c.*285C>T (n.*285C>T)
c.2748C>T (p.Asn916=)
c.2868C>T (p.Asn956=)
c.675C>T (p.Asn225=)
c.*566C>T (n.*566C>T)
c.2979C>T (p.Asn993=)
c.3072C>T (p.Asn1024=)
c.2958C>T (p.Asn986=)
c.2955C>T (p.Asn985=)
c.2808C>T (p.Asn936=)
c.1914C>T (p.Asn638=)
2g.38997024G>CCA1624283SOS1c.1746C>G (p.Asn582Lys)
n.2986C>G
c.*285C>G (n.*285C>G)
c.2748C>G (p.Asn916Lys)
c.2868C>G (p.Asn956Lys)
c.675C>G (p.Asn225Lys)
c.*566C>G (n.*566C>G)
c.2979C>G (p.Asn993Lys)
c.3072C>G (p.Asn1024Lys)
c.2958C>G (p.Asn986Lys)
c.2955C>G (p.Asn985Lys)
c.2808C>G (p.Asn936Lys)
c.1914C>G (p.Asn638Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.38997024G=CA1246123943SOS1c.1746C= (p.Asn582=)
n.2986C=
c.*285C= (n.*285C=)
c.2748C= (p.Asn916=)
c.2868C= (p.Asn956=)
c.675C= (p.Asn225=)
c.*566C= (n.*566C=)
c.2979C= (p.Asn993=)
c.3072C= (p.Asn1024=)
c.2958C= (p.Asn986=)
c.2955C= (p.Asn985=)
c.2808C= (p.Asn936=)
c.1914C= (p.Asn638=)
2g.38997024G>TCA346361519SOS1c.1746C>A (p.Asn582Lys)
n.2986C>A
c.*285C>A (n.*285C>A)
c.2748C>A (p.Asn916Lys)
c.2868C>A (p.Asn956Lys)
c.675C>A (p.Asn225Lys)
c.*566C>A (n.*566C>A)
c.2979C>A (p.Asn993Lys)
c.3072C>A (p.Asn1024Lys)
c.2958C>A (p.Asn986Lys)
c.2955C>A (p.Asn985Lys)
c.2808C>A (p.Asn936Lys)
c.1914C>A (p.Asn638Lys)
gnomAD v4
2g.38997025T>ACA346361520SOS1c.1745A>T (p.Asn582Ile)
n.2985A>T
c.*284A>T (n.*284A>T)
c.2747A>T (p.Asn916Ile)
c.2867A>T (p.Asn956Ile)
c.674A>T (p.Asn225Ile)
c.*565A>T (n.*565A>T)
c.2978A>T (p.Asn993Ile)
c.3071A>T (p.Asn1024Ile)
c.2957A>T (p.Asn986Ile)
c.2954A>T (p.Asn985Ile)
c.2807A>T (p.Asn936Ile)
c.1913A>T (p.Asn638Ile)
2g.38997025T>CCA346361522SOS1c.1745A>G (p.Asn582Ser)
n.2985A>G
c.*284A>G (n.*284A>G)
c.2747A>G (p.Asn916Ser)
c.2867A>G (p.Asn956Ser)
c.674A>G (p.Asn225Ser)
c.*565A>G (n.*565A>G)
c.2978A>G (p.Asn993Ser)
c.3071A>G (p.Asn1024Ser)
c.2957A>G (p.Asn986Ser)
c.2954A>G (p.Asn985Ser)
c.2807A>G (p.Asn936Ser)
c.1913A>G (p.Asn638Ser)
gnomAD v4
2g.38997025T>GCA346361521SOS1c.1745A>C (p.Asn582Thr)
n.2985A>C
c.*284A>C (n.*284A>C)
c.2747A>C (p.Asn916Thr)
c.2867A>C (p.Asn956Thr)
c.674A>C (p.Asn225Thr)
c.*565A>C (n.*565A>C)
c.2978A>C (p.Asn993Thr)
c.3071A>C (p.Asn1024Thr)
c.2957A>C (p.Asn986Thr)
c.2954A>C (p.Asn985Thr)
c.2807A>C (p.Asn936Thr)
c.1913A>C (p.Asn638Thr)
2g.38997026T>ACA346361523SOS1c.1744A>T (p.Asn582Tyr)
n.2984A>T
c.*283A>T (n.*283A>T)
c.2746A>T (p.Asn916Tyr)
c.2866A>T (p.Asn956Tyr)
c.673A>T (p.Asn225Tyr)
c.*564A>T (n.*564A>T)
c.2977A>T (p.Asn993Tyr)
c.3070A>T (p.Asn1024Tyr)
c.2956A>T (p.Asn986Tyr)
c.2953A>T (p.Asn985Tyr)
c.2806A>T (p.Asn936Tyr)
c.1912A>T (p.Asn638Tyr)
2g.38997026T>CCA346361524SOS1c.1744A>G (p.Asn582Asp)
n.2984A>G
c.*283A>G (n.*283A>G)
c.2746A>G (p.Asn916Asp)
c.2866A>G (p.Asn956Asp)
c.673A>G (p.Asn225Asp)
c.*564A>G (n.*564A>G)
c.2977A>G (p.Asn993Asp)
c.3070A>G (p.Asn1024Asp)
c.2956A>G (p.Asn986Asp)
c.2953A>G (p.Asn985Asp)
c.2806A>G (p.Asn936Asp)
c.1912A>G (p.Asn638Asp)
2g.38997026T>GCA346361525SOS1c.1744A>C (p.Asn582His)
n.2984A>C
c.*283A>C (n.*283A>C)
c.2746A>C (p.Asn916His)
c.2866A>C (p.Asn956His)
c.673A>C (p.Asn225His)
c.*564A>C (n.*564A>C)
c.2977A>C (p.Asn993His)
c.3070A>C (p.Asn1024His)
c.2956A>C (p.Asn986His)
c.2953A>C (p.Asn985His)
c.2806A>C (p.Asn936His)
c.1912A>C (p.Asn638His)
2g.38997027T>ACA346361526SOS1c.1743A>T (p.Glu581Asp)
n.2983A>T
c.*282A>T (n.*282A>T)
c.2745A>T (p.Glu915Asp)
c.2865A>T (p.Glu955Asp)
c.672A>T (p.Glu224Asp)
c.*563A>T (n.*563A>T)
c.2976A>T (p.Glu992Asp)
c.3069A>T (p.Glu1023Asp)
c.2955A>T (p.Glu985Asp)
c.2952A>T (p.Glu984Asp)
c.2805A>T (p.Glu935Asp)
c.1911A>T (p.Glu637Asp)
2g.38997027T>CCA425866381SOS1c.1743A>G (p.Glu581=)
n.2983A>G
c.*282A>G (n.*282A>G)
c.2745A>G (p.Glu915=)
c.2865A>G (p.Glu955=)
c.672A>G (p.Glu224=)
c.*563A>G (n.*563A>G)
c.2976A>G (p.Glu992=)
c.3069A>G (p.Glu1023=)
c.2955A>G (p.Glu985=)
c.2952A>G (p.Glu984=)
c.2805A>G (p.Glu935=)
c.1911A>G (p.Glu637=)
gnomAD v4
2g.38997027T>GCA346361527SOS1c.1743A>C (p.Glu581Asp)
n.2983A>C
c.*282A>C (n.*282A>C)
c.2745A>C (p.Glu915Asp)
c.2865A>C (p.Glu955Asp)
c.672A>C (p.Glu224Asp)
c.*563A>C (n.*563A>C)
c.2976A>C (p.Glu992Asp)
c.3069A>C (p.Glu1023Asp)
c.2955A>C (p.Glu985Asp)
c.2952A>C (p.Glu984Asp)
c.2805A>C (p.Glu935Asp)
c.1911A>C (p.Glu637Asp)
2g.38997028T>ACA346361528SOS1c.1742A>T (p.Glu581Val)
n.2982A>T
c.*281A>T (n.*281A>T)
c.2744A>T (p.Glu915Val)
c.2864A>T (p.Glu955Val)
c.671A>T (p.Glu224Val)
c.*562A>T (n.*562A>T)
c.2975A>T (p.Glu992Val)
c.3068A>T (p.Glu1023Val)
c.2954A>T (p.Glu985Val)
c.2951A>T (p.Glu984Val)
c.2804A>T (p.Glu935Val)
c.1910A>T (p.Glu637Val)
2g.38997028T>CCA346361529SOS1c.1742A>G (p.Glu581Gly)
n.2982A>G
c.*281A>G (n.*281A>G)
c.2744A>G (p.Glu915Gly)
c.2864A>G (p.Glu955Gly)
c.671A>G (p.Glu224Gly)
c.*562A>G (n.*562A>G)
c.2975A>G (p.Glu992Gly)
c.3068A>G (p.Glu1023Gly)
c.2954A>G (p.Glu985Gly)
c.2951A>G (p.Glu984Gly)
c.2804A>G (p.Glu935Gly)
c.1910A>G (p.Glu637Gly)
gnomAD v4
2g.38997028T>GCA346361530SOS1c.1742A>C (p.Glu581Ala)
n.2982A>C
c.*281A>C (n.*281A>C)
c.2744A>C (p.Glu915Ala)
c.2864A>C (p.Glu955Ala)
c.671A>C (p.Glu224Ala)
c.*562A>C (n.*562A>C)
c.2975A>C (p.Glu992Ala)
c.3068A>C (p.Glu1023Ala)
c.2954A>C (p.Glu985Ala)
c.2951A>C (p.Glu984Ala)
c.2804A>C (p.Glu935Ala)
c.1910A>C (p.Glu637Ala)
2g.38997029C>ACA346361531SOS1c.1741G>T (p.Glu581Ter)
n.2981G>T
c.*280G>T (n.*280G>T)
c.2743G>T (p.Glu915Ter)
c.2863G>T (p.Glu955Ter)
c.670G>T (p.Glu224Ter)
c.*561G>T (n.*561G>T)
c.2974G>T (p.Glu992Ter)
c.3067G>T (p.Glu1023Ter)
c.2953G>T (p.Glu985Ter)
c.2950G>T (p.Glu984Ter)
c.2803G>T (p.Glu935Ter)
c.1909G>T (p.Glu637Ter)
2g.38997029C=CA1246123944SOS1c.1741G= (p.Glu581=)
n.2981G=
c.*280G= (n.*280G=)
c.2743G= (p.Glu915=)
c.2863G= (p.Glu955=)
c.670G= (p.Glu224=)
c.*561G= (n.*561G=)
c.2974G= (p.Glu992=)
c.3067G= (p.Glu1023=)
c.2953G= (p.Glu985=)
c.2950G= (p.Glu984=)
c.2803G= (p.Glu935=)
c.1909G= (p.Glu637=)
2g.38997029C>GCA346361532SOS1c.1741G>C (p.Glu581Gln)
n.2981G>C
c.*280G>C (n.*280G>C)
c.2743G>C (p.Glu915Gln)
c.2863G>C (p.Glu955Gln)
c.670G>C (p.Glu224Gln)
c.*561G>C (n.*561G>C)
c.2974G>C (p.Glu992Gln)
c.3067G>C (p.Glu1023Gln)
c.2953G>C (p.Glu985Gln)
c.2950G>C (p.Glu984Gln)
c.2803G>C (p.Glu935Gln)
c.1909G>C (p.Glu637Gln)
2g.38997029C>TCA346361533SOS1c.1741G>A (p.Glu581Lys)
n.2981G>A
c.*280G>A (n.*280G>A)
c.2743G>A (p.Glu915Lys)
c.2863G>A (p.Glu955Lys)
c.670G>A (p.Glu224Lys)
c.*561G>A (n.*561G>A)
c.2974G>A (p.Glu992Lys)
c.3067G>A (p.Glu1023Lys)
c.2953G>A (p.Glu985Lys)
c.2950G>A (p.Glu984Lys)
c.2803G>A (p.Glu935Lys)
c.1909G>A (p.Glu637Lys)
dbSNP gnomAD v4
2g.38997030A=CA1246123945SOS1c.1740T= (p.Phe580=)
n.2980T=
c.*279T= (n.*279T=)
c.2742T= (p.Phe914=)
c.2862T= (p.Phe954=)
c.669T= (p.Phe223=)
c.*560T= (n.*560T=)
c.2973T= (p.Phe991=)
c.3066T= (p.Phe1022=)
c.2952T= (p.Phe984=)
c.2949T= (p.Phe983=)
c.2802T= (p.Phe934=)
c.1908T= (p.Phe636=)
2g.38997030A>CCA1624284SOS1c.1740T>G (p.Phe580Leu)
n.2980T>G
c.*279T>G (n.*279T>G)
c.2742T>G (p.Phe914Leu)
c.2862T>G (p.Phe954Leu)
c.669T>G (p.Phe223Leu)
c.*560T>G (n.*560T>G)
c.2973T>G (p.Phe991Leu)
c.3066T>G (p.Phe1022Leu)
c.2952T>G (p.Phe984Leu)
c.2949T>G (p.Phe983Leu)
c.2802T>G (p.Phe934Leu)
c.1908T>G (p.Phe636Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.38997030A>GCA425866385SOS1c.1740T>C (p.Phe580=)
n.2980T>C
c.*279T>C (n.*279T>C)
c.2742T>C (p.Phe914=)
c.2862T>C (p.Phe954=)
c.669T>C (p.Phe223=)
c.*560T>C (n.*560T>C)
c.2973T>C (p.Phe991=)
c.3066T>C (p.Phe1022=)
c.2952T>C (p.Phe984=)
c.2949T>C (p.Phe983=)
c.2802T>C (p.Phe934=)
c.1908T>C (p.Phe636=)
ClinVar gnomAD v4
2g.38997030A>TCA346361534SOS1c.1740T>A (p.Phe580Leu)
n.2980T>A
c.*279T>A (n.*279T>A)
c.2742T>A (p.Phe914Leu)
c.2862T>A (p.Phe954Leu)
c.669T>A (p.Phe223Leu)
c.*560T>A (n.*560T>A)
c.2973T>A (p.Phe991Leu)
c.3066T>A (p.Phe1022Leu)
c.2952T>A (p.Phe984Leu)
c.2949T>A (p.Phe983Leu)
c.2802T>A (p.Phe934Leu)
c.1908T>A (p.Phe636Leu)
2g.38997032delCA2576945163SOS1c.1740del (p.Phe580LeufsTer4)
n.2980del
c.*279del (n.*279del)
c.2742del (p.Phe914LeufsTer4)
c.2862del (p.Phe954LeufsTer4)
c.669del (p.Phe223LeufsTer4)
c.*560del (n.*560del)
c.2973del (p.Phe991LeufsTer4)
c.3066del (p.Phe1022LeufsTer4)
c.2952del (p.Phe984LeufsTer4)
c.2949del (p.Phe983LeufsTer4)
c.2802del (p.Phe934LeufsTer4)
c.1908del (p.Phe636LeufsTer4)
2g.38997031A>CCA346361535SOS1c.1739T>G (p.Phe580Cys)
n.2979T>G
c.*278T>G (n.*278T>G)
c.2741T>G (p.Phe914Cys)
c.2861T>G (p.Phe954Cys)
c.668T>G (p.Phe223Cys)
c.*559T>G (n.*559T>G)
c.2972T>G (p.Phe991Cys)
c.3065T>G (p.Phe1022Cys)
c.2951T>G (p.Phe984Cys)
c.2948T>G (p.Phe983Cys)
c.2801T>G (p.Phe934Cys)
c.1907T>G (p.Phe636Cys)
2g.38997031A>GCA346361537SOS1c.1739T>C (p.Phe580Ser)
n.2979T>C
c.*278T>C (n.*278T>C)
c.2741T>C (p.Phe914Ser)
c.2861T>C (p.Phe954Ser)
c.668T>C (p.Phe223Ser)
c.*559T>C (n.*559T>C)
c.2972T>C (p.Phe991Ser)
c.3065T>C (p.Phe1022Ser)
c.2951T>C (p.Phe984Ser)
c.2948T>C (p.Phe983Ser)
c.2801T>C (p.Phe934Ser)
c.1907T>C (p.Phe636Ser)
gnomAD v4
2g.38997031A>TCA346361536SOS1c.1739T>A (p.Phe580Tyr)
n.2979T>A
c.*278T>A (n.*278T>A)
c.2741T>A (p.Phe914Tyr)
c.2861T>A (p.Phe954Tyr)
c.668T>A (p.Phe223Tyr)
c.*559T>A (n.*559T>A)
c.2972T>A (p.Phe991Tyr)
c.3065T>A (p.Phe1022Tyr)
c.2951T>A (p.Phe984Tyr)
c.2948T>A (p.Phe983Tyr)
c.2801T>A (p.Phe934Tyr)
c.1907T>A (p.Phe636Tyr)
2g.38997032A>CCA346361538SOS1c.1738T>G (p.Phe580Val)
n.2978T>G
c.*277T>G (n.*277T>G)
c.2740T>G (p.Phe914Val)
c.2860T>G (p.Phe954Val)
c.667T>G (p.Phe223Val)
c.*558T>G (n.*558T>G)
c.2971T>G (p.Phe991Val)
c.3064T>G (p.Phe1022Val)
c.2950T>G (p.Phe984Val)
c.2947T>G (p.Phe983Val)
c.2800T>G (p.Phe934Val)
c.1906T>G (p.Phe636Val)
2g.38997032A>GCA346361539SOS1c.1738T>C (p.Phe580Leu)
n.2978T>C
c.*277T>C (n.*277T>C)
c.2740T>C (p.Phe914Leu)
c.2860T>C (p.Phe954Leu)
c.667T>C (p.Phe223Leu)
c.*558T>C (n.*558T>C)
c.2971T>C (p.Phe991Leu)
c.3064T>C (p.Phe1022Leu)
c.2950T>C (p.Phe984Leu)
c.2947T>C (p.Phe983Leu)
c.2800T>C (p.Phe934Leu)
c.1906T>C (p.Phe636Leu)
2g.38997032A>TCA346361540SOS1c.1738T>A (p.Phe580Ile)
n.2978T>A
c.*277T>A (n.*277T>A)
c.2740T>A (p.Phe914Ile)
c.2860T>A (p.Phe954Ile)
c.667T>A (p.Phe223Ile)
c.*558T>A (n.*558T>A)
c.2971T>A (p.Phe991Ile)
c.3064T>A (p.Phe1022Ile)
c.2950T>A (p.Phe984Ile)
c.2947T>A (p.Phe983Ile)
c.2800T>A (p.Phe934Ile)
c.1906T>A (p.Phe636Ile)
2g.38997033G>ACA425866390SOS1c.1737C>T (p.Phe579=)
n.2977C>T
c.*276C>T (n.*276C>T)
c.2739C>T (p.Phe913=)
c.2859C>T (p.Phe953=)
c.666C>T (p.Phe222=)
c.*557C>T (n.*557C>T)
c.2970C>T (p.Phe990=)
c.3063C>T (p.Phe1021=)
c.2949C>T (p.Phe983=)
c.2946C>T (p.Phe982=)
c.2799C>T (p.Phe933=)
c.1905C>T (p.Phe635=)
gnomAD v4
2g.38997033G>CCA346361541SOS1c.1737C>G (p.Phe579Leu)
n.2977C>G
c.*276C>G (n.*276C>G)
c.2739C>G (p.Phe913Leu)
c.2859C>G (p.Phe953Leu)
c.666C>G (p.Phe222Leu)
c.*557C>G (n.*557C>G)
c.2970C>G (p.Phe990Leu)
c.3063C>G (p.Phe1021Leu)
c.2949C>G (p.Phe983Leu)
c.2946C>G (p.Phe982Leu)
c.2799C>G (p.Phe933Leu)
c.1905C>G (p.Phe635Leu)
2g.38997033G>TCA346361542SOS1c.1737C>A (p.Phe579Leu)
n.2977C>A
c.*276C>A (n.*276C>A)
c.2739C>A (p.Phe913Leu)
c.2859C>A (p.Phe953Leu)
c.666C>A (p.Phe222Leu)
c.*557C>A (n.*557C>A)
c.2970C>A (p.Phe990Leu)
c.3063C>A (p.Phe1021Leu)
c.2949C>A (p.Phe983Leu)
c.2946C>A (p.Phe982Leu)
c.2799C>A (p.Phe933Leu)
c.1905C>A (p.Phe635Leu)
gnomAD v4
2g.38997034A>CCA346361543SOS1c.1736T>G (p.Phe579Cys)
n.2976T>G
c.*275T>G (n.*275T>G)
c.2738T>G (p.Phe913Cys)
c.2858T>G (p.Phe953Cys)
c.665T>G (p.Phe222Cys)
c.*556T>G (n.*556T>G)
c.2969T>G (p.Phe990Cys)
c.3062T>G (p.Phe1021Cys)
c.2948T>G (p.Phe983Cys)
c.2945T>G (p.Phe982Cys)
c.2798T>G (p.Phe933Cys)
c.1904T>G (p.Phe635Cys)
2g.38997034A>GCA346361544SOS1c.1736T>C (p.Phe579Ser)
n.2976T>C
c.*275T>C (n.*275T>C)
c.2738T>C (p.Phe913Ser)
c.2858T>C (p.Phe953Ser)
c.665T>C (p.Phe222Ser)
c.*556T>C (n.*556T>C)
c.2969T>C (p.Phe990Ser)
c.3062T>C (p.Phe1021Ser)
c.2948T>C (p.Phe983Ser)
c.2945T>C (p.Phe982Ser)
c.2798T>C (p.Phe933Ser)
c.1904T>C (p.Phe635Ser)
2g.38997034A>TCA346361545SOS1c.1736T>A (p.Phe579Tyr)
n.2976T>A
c.*275T>A (n.*275T>A)
c.2738T>A (p.Phe913Tyr)
c.2858T>A (p.Phe953Tyr)
c.665T>A (p.Phe222Tyr)
c.*556T>A (n.*556T>A)
c.2969T>A (p.Phe990Tyr)
c.3062T>A (p.Phe1021Tyr)
c.2948T>A (p.Phe983Tyr)
c.2945T>A (p.Phe982Tyr)
c.2798T>A (p.Phe933Tyr)
c.1904T>A (p.Phe635Tyr)
2g.38997035A>CCA346361546SOS1c.1735T>G (p.Phe579Val)
n.2975T>G
c.*274T>G (n.*274T>G)
c.2737T>G (p.Phe913Val)
c.2857T>G (p.Phe953Val)
c.664T>G (p.Phe222Val)
c.*555T>G (n.*555T>G)
c.2968T>G (p.Phe990Val)
c.3061T>G (p.Phe1021Val)
c.2947T>G (p.Phe983Val)
c.2944T>G (p.Phe982Val)
c.2797T>G (p.Phe933Val)
c.1903T>G (p.Phe635Val)
2g.38997035A>GCA346361547SOS1c.1735T>C (p.Phe579Leu)
n.2975T>C
c.*274T>C (n.*274T>C)
c.2737T>C (p.Phe913Leu)
c.2857T>C (p.Phe953Leu)
c.664T>C (p.Phe222Leu)
c.*555T>C (n.*555T>C)
c.2968T>C (p.Phe990Leu)
c.3061T>C (p.Phe1021Leu)
c.2947T>C (p.Phe983Leu)
c.2944T>C (p.Phe982Leu)
c.2797T>C (p.Phe933Leu)
c.1903T>C (p.Phe635Leu)
gnomAD v4
2g.38997035A>TCA346361548SOS1c.1735T>A (p.Phe579Ile)
n.2975T>A
c.*274T>A (n.*274T>A)
c.2737T>A (p.Phe913Ile)
c.2857T>A (p.Phe953Ile)
c.664T>A (p.Phe222Ile)
c.*555T>A (n.*555T>A)
c.2968T>A (p.Phe990Ile)
c.3061T>A (p.Phe1021Ile)
c.2947T>A (p.Phe983Ile)
c.2944T>A (p.Phe982Ile)
c.2797T>A (p.Phe933Ile)
c.1903T>A (p.Phe635Ile)
2g.38997036C>ACA346361550SOS1c.1734G>T (p.Arg578Ser)
n.2974G>T
c.*273G>T (n.*273G>T)
c.2736G>T (p.Arg912Ser)
c.2856G>T (p.Arg952Ser)
c.663G>T (p.Arg221Ser)
c.*554G>T (n.*554G>T)
c.2967G>T (p.Arg989Ser)
c.3060G>T (p.Arg1020Ser)
c.2946G>T (p.Arg982Ser)
c.2943G>T (p.Arg981Ser)
c.2796G>T (p.Arg932Ser)
c.1902G>T (p.Arg634Ser)
gnomAD v4
2g.38997036C>GCA346361549SOS1c.1734G>C (p.Arg578Ser)
n.2974G>C
c.*273G>C (n.*273G>C)
c.2736G>C (p.Arg912Ser)
c.2856G>C (p.Arg952Ser)
c.663G>C (p.Arg221Ser)
c.*554G>C (n.*554G>C)
c.2967G>C (p.Arg989Ser)
c.3060G>C (p.Arg1020Ser)
c.2946G>C (p.Arg982Ser)
c.2943G>C (p.Arg981Ser)
c.2796G>C (p.Arg932Ser)
c.1902G>C (p.Arg634Ser)
2g.38997036C>TCA425866394SOS1c.1734G>A (p.Arg578=)
n.2974G>A
c.*273G>A (n.*273G>A)
c.2736G>A (p.Arg912=)
c.2856G>A (p.Arg952=)
c.663G>A (p.Arg221=)
c.*554G>A (n.*554G>A)
c.2967G>A (p.Arg989=)
c.3060G>A (p.Arg1020=)
c.2946G>A (p.Arg982=)
c.2943G>A (p.Arg981=)
c.2796G>A (p.Arg932=)
c.1902G>A (p.Arg634=)
ClinVar gnomAD v4
2g.38997037C>ACA346361551SOS1c.1733G>T (p.Arg578Met)
n.2973G>T
c.*272G>T (n.*272G>T)
c.2735G>T (p.Arg912Met)
c.2855G>T (p.Arg952Met)
c.662G>T (p.Arg221Met)
c.*553G>T (n.*553G>T)
c.2966G>T (p.Arg989Met)
c.3059G>T (p.Arg1020Met)
c.2945G>T (p.Arg982Met)
c.2942G>T (p.Arg981Met)
c.2795G>T (p.Arg932Met)
c.1901G>T (p.Arg634Met)
2g.38997037C=CA1246123946SOS1c.1733G= (p.Arg578=)
n.2973G=
c.*272G= (n.*272G=)
c.2735G= (p.Arg912=)
c.2855G= (p.Arg952=)
c.662G= (p.Arg221=)
c.*553G= (n.*553G=)
c.2966G= (p.Arg989=)
c.3059G= (p.Arg1020=)
c.2945G= (p.Arg982=)
c.2942G= (p.Arg981=)
c.2795G= (p.Arg932=)
c.1901G= (p.Arg634=)
2g.38997037C>GCA1624285SOS1c.1733G>C (p.Arg578Thr)
n.2973G>C
c.*272G>C (n.*272G>C)
c.2735G>C (p.Arg912Thr)
c.2855G>C (p.Arg952Thr)
c.662G>C (p.Arg221Thr)
c.*553G>C (n.*553G>C)
c.2966G>C (p.Arg989Thr)
c.3059G>C (p.Arg1020Thr)
c.2945G>C (p.Arg982Thr)
c.2942G>C (p.Arg981Thr)
c.2795G>C (p.Arg932Thr)
c.1901G>C (p.Arg634Thr)
dbSNP ExAC gnomAD v2
2g.38997037C>TCA136120SOS1c.1733G>A (p.Arg578Lys)
n.2973G>A
c.*272G>A (n.*272G>A)
c.2735G>A (p.Arg912Lys)
c.2855G>A (p.Arg952Lys)
c.662G>A (p.Arg221Lys)
c.*553G>A (n.*553G>A)
c.2966G>A (p.Arg989Lys)
c.3059G>A (p.Arg1020Lys)
c.2945G>A (p.Arg982Lys)
c.2942G>A (p.Arg981Lys)
c.2795G>A (p.Arg932Lys)
c.1901G>A (p.Arg634Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38997038T>ACA346361552SOS1c.1732A>T (p.Arg578Trp)
n.2972A>T
c.*271A>T (n.*271A>T)
c.2734A>T (p.Arg912Trp)
c.2854A>T (p.Arg952Trp)
c.661A>T (p.Arg221Trp)
c.*552A>T (n.*552A>T)
c.2965A>T (p.Arg989Trp)
c.3058A>T (p.Arg1020Trp)
c.2944A>T (p.Arg982Trp)
c.2941A>T (p.Arg981Trp)
c.2794A>T (p.Arg932Trp)
c.1900A>T (p.Arg634Trp)
2g.38997038T>CCA346361553SOS1c.1732A>G (p.Arg578Gly)
n.2972A>G
c.*271A>G (n.*271A>G)
c.2734A>G (p.Arg912Gly)
c.2854A>G (p.Arg952Gly)
c.661A>G (p.Arg221Gly)
c.*552A>G (n.*552A>G)
c.2965A>G (p.Arg989Gly)
c.3058A>G (p.Arg1020Gly)
c.2944A>G (p.Arg982Gly)
c.2941A>G (p.Arg981Gly)
c.2794A>G (p.Arg932Gly)
c.1900A>G (p.Arg634Gly)
gnomAD v4
2g.38997038T>GCA425866399SOS1c.1732A>C (p.Arg578=)
n.2972A>C
c.*271A>C (n.*271A>C)
c.2734A>C (p.Arg912=)
c.2854A>C (p.Arg952=)
c.661A>C (p.Arg221=)
c.*552A>C (n.*552A>C)
c.2965A>C (p.Arg989=)
c.3058A>C (p.Arg1020=)
c.2944A>C (p.Arg982=)
c.2941A>C (p.Arg981=)
c.2794A>C (p.Arg932=)
c.1900A>C (p.Arg634=)
dbSNP gnomAD v3 gnomAD v4
2g.38997038T=CA1246123947SOS1c.1732A= (p.Arg578=)
n.2972A=
c.*271A= (n.*271A=)
c.2734A= (p.Arg912=)
c.2854A= (p.Arg952=)
c.661A= (p.Arg221=)
c.*552A= (n.*552A=)
c.2965A= (p.Arg989=)
c.3058A= (p.Arg1020=)
c.2944A= (p.Arg982=)
c.2941A= (p.Arg981=)
c.2794A= (p.Arg932=)
c.1900A= (p.Arg634=)
2g.38997039C>ACA346361554SOS1c.1732-1G>T (n.1732-1G>T)
n.2972-1G>T
c.*271-1G>T (n.*271-1G>T)
c.2734-1G>T (n.2734-1G>T)
c.2854-1G>T (n.2854-1G>T)
c.661-1G>T (n.661-1G>T)
c.*552-1G>T (n.*552-1G>T)
c.2965-1G>T (n.2965-1G>T)
c.3058-1G>T (n.3058-1G>T)
c.2944-1G>T (n.2944-1G>T)
c.2941-1G>T (n.2941-1G>T)
c.2794-1G>T (n.2794-1G>T)
c.1900-1G>T (n.1900-1G>T)
2g.38997039C>GCA346361555SOS1c.1732-1G>C (n.1732-1G>C)
n.2972-1G>C
c.*271-1G>C (n.*271-1G>C)
c.2734-1G>C (n.2734-1G>C)
c.2854-1G>C (n.2854-1G>C)
c.661-1G>C (n.661-1G>C)
c.*552-1G>C (n.*552-1G>C)
c.2965-1G>C (n.2965-1G>C)
c.3058-1G>C (n.3058-1G>C)
c.2944-1G>C (n.2944-1G>C)
c.2941-1G>C (n.2941-1G>C)
c.2794-1G>C (n.2794-1G>C)
c.1900-1G>C (n.1900-1G>C)
2g.38997039C>TCA346361556SOS1c.1732-1G>A (n.1732-1G>A)
n.2972-1G>A
c.*271-1G>A (n.*271-1G>A)
c.2734-1G>A (n.2734-1G>A)
c.2854-1G>A (n.2854-1G>A)
c.661-1G>A (n.661-1G>A)
c.*552-1G>A (n.*552-1G>A)
c.2965-1G>A (n.2965-1G>A)
c.3058-1G>A (n.3058-1G>A)
c.2944-1G>A (n.2944-1G>A)
c.2941-1G>A (n.2941-1G>A)
c.2794-1G>A (n.2794-1G>A)
c.1900-1G>A (n.1900-1G>A)
2g.38997040T>ACA346361557SOS1c.1732-2A>T (n.1732-2A>T)
n.2972-2A>T
c.*271-2A>T (n.*271-2A>T)
c.2734-2A>T (n.2734-2A>T)
c.2854-2A>T (n.2854-2A>T)
c.661-2A>T (n.661-2A>T)
c.*552-2A>T (n.*552-2A>T)
c.2965-2A>T (n.2965-2A>T)
c.3058-2A>T (n.3058-2A>T)
c.2944-2A>T (n.2944-2A>T)
c.2941-2A>T (n.2941-2A>T)
c.2794-2A>T (n.2794-2A>T)
c.1900-2A>T (n.1900-2A>T)
gnomAD v4
2g.38997040T>CCA346361558SOS1c.1732-2A>G (n.1732-2A>G)
n.2972-2A>G
c.*271-2A>G (n.*271-2A>G)
c.2734-2A>G (n.2734-2A>G)
c.2854-2A>G (n.2854-2A>G)
c.661-2A>G (n.661-2A>G)
c.*552-2A>G (n.*552-2A>G)
c.2965-2A>G (n.2965-2A>G)
c.3058-2A>G (n.3058-2A>G)
c.2944-2A>G (n.2944-2A>G)
c.2941-2A>G (n.2941-2A>G)
c.2794-2A>G (n.2794-2A>G)
c.1900-2A>G (n.1900-2A>G)
gnomAD v4
2g.38997040T>GCA346361559SOS1c.1732-2A>C (n.1732-2A>C)
n.2972-2A>C
c.*271-2A>C (n.*271-2A>C)
c.2734-2A>C (n.2734-2A>C)
c.2854-2A>C (n.2854-2A>C)
c.661-2A>C (n.661-2A>C)
c.*552-2A>C (n.*552-2A>C)
c.2965-2A>C (n.2965-2A>C)
c.3058-2A>C (n.3058-2A>C)
c.2944-2A>C (n.2944-2A>C)
c.2941-2A>C (n.2941-2A>C)
c.2794-2A>C (n.2794-2A>C)
c.1900-2A>C (n.1900-2A>C)
2g.38997041A>GCA2658713268SOS1c.1732-3T>C (n.1732-3T>C)
n.2972-3T>C
c.*271-3T>C (n.*271-3T>C)
c.2734-3T>C (n.2734-3T>C)
c.2854-3T>C (n.2854-3T>C)
c.661-3T>C (n.661-3T>C)
c.*552-3T>C (n.*552-3T>C)
c.2965-3T>C (n.2965-3T>C)
c.3058-3T>C (n.3058-3T>C)
c.2944-3T>C (n.2944-3T>C)
c.2941-3T>C (n.2941-3T>C)
c.2794-3T>C (n.2794-3T>C)
c.1900-3T>C (n.1900-3T>C)
gnomAD v4
2g.38997044delCA2749574100SOS1c.1732-3del (n.1732-3del)
n.2972-3del
c.*271-3del (n.*271-3del)
c.2734-3del (n.2734-3del)
c.2854-3del (n.2854-3del)
c.661-3del (n.661-3del)
c.*552-3del (n.*552-3del)
c.2965-3del (n.2965-3del)
c.3058-3del (n.3058-3del)
c.2944-3del (n.2944-3del)
c.2941-3del (n.2941-3del)
c.2794-3del (n.2794-3del)
c.1900-3del (n.1900-3del)
2g.38997041_38997045delinsAAAATCA1246123948SOS1c.1732-7_1732-3delinsATTTT (n.1732-7_1732-3delinsATTTT)
n.2972-7_2972-3delinsATTTT
c.*271-7_*271-3delinsATTTT (n.*271-7_*271-3delinsATTTT)
c.2734-7_2734-3delinsATTTT (n.2734-7_2734-3delinsATTTT)
c.2854-7_2854-3delinsATTTT (n.2854-7_2854-3delinsATTTT)
c.661-7_661-3delinsATTTT (n.661-7_661-3delinsATTTT)
c.*552-7_*552-3delinsATTTT (n.*552-7_*552-3delinsATTTT)
c.2965-7_2965-3delinsATTTT (n.2965-7_2965-3delinsATTTT)
c.3058-7_3058-3delinsATTTT (n.3058-7_3058-3delinsATTTT)
c.2944-7_2944-3delinsATTTT (n.2944-7_2944-3delinsATTTT)
c.2941-7_2941-3delinsATTTT (n.2941-7_2941-3delinsATTTT)
c.2794-7_2794-3delinsATTTT (n.2794-7_2794-3delinsATTTT)
c.1900-7_1900-3delinsATTTT (n.1900-7_1900-3delinsATTTT)
2g.38997044_38997054delCA2749574101SOS1c.1732-13_1732-3del (n.1732-13_1732-3del)
n.2972-13_2972-3del
c.*271-13_*271-3del (n.*271-13_*271-3del)
c.2734-13_2734-3del (n.2734-13_2734-3del)
c.2854-13_2854-3del (n.2854-13_2854-3del)
c.661-13_661-3del (n.661-13_661-3del)
c.*552-13_*552-3del (n.*552-13_*552-3del)
c.2965-13_2965-3del (n.2965-13_2965-3del)
c.3058-13_3058-3del (n.3058-13_3058-3del)
c.2944-13_2944-3del (n.2944-13_2944-3del)
c.2941-13_2941-3del (n.2941-13_2941-3del)
c.2794-13_2794-3del (n.2794-13_2794-3del)
c.1900-13_1900-3del (n.1900-13_1900-3del)
2g.38997042A>CCA2580066436SOS1c.1732-4T>G (n.1732-4T>G)
n.2972-4T>G
c.*271-4T>G (n.*271-4T>G)
c.2734-4T>G (n.2734-4T>G)
c.2854-4T>G (n.2854-4T>G)
c.661-4T>G (n.661-4T>G)
c.*552-4T>G (n.*552-4T>G)
c.2965-4T>G (n.2965-4T>G)
c.3058-4T>G (n.3058-4T>G)
c.2944-4T>G (n.2944-4T>G)
c.2941-4T>G (n.2941-4T>G)
c.2794-4T>G (n.2794-4T>G)
c.1900-4T>G (n.1900-4T>G)
ClinVar
2g.38997046_38997049delCA1624286SOS1c.1732-7_1732-4del (n.1732-7_1732-4del)
n.2972-7_2972-4del
c.*271-7_*271-4del (n.*271-7_*271-4del)
c.2734-7_2734-4del (n.2734-7_2734-4del)
c.2854-7_2854-4del (n.2854-7_2854-4del)
c.661-7_661-4del (n.661-7_661-4del)
c.*552-7_*552-4del (n.*552-7_*552-4del)
c.2965-7_2965-4del (n.2965-7_2965-4del)
c.3058-7_3058-4del (n.3058-7_3058-4del)
c.2944-7_2944-4del (n.2944-7_2944-4del)
c.2941-7_2941-4del (n.2941-7_2941-4del)
c.2794-7_2794-4del (n.2794-7_2794-4del)
c.1900-7_1900-4del (n.1900-7_1900-4del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.38997043A>GCA2576945164SOS1c.1732-5T>C (n.1732-5T>C)
n.2972-5T>C
c.*271-5T>C (n.*271-5T>C)
c.2734-5T>C (n.2734-5T>C)
c.2854-5T>C (n.2854-5T>C)
c.661-5T>C (n.661-5T>C)
c.*552-5T>C (n.*552-5T>C)
c.2965-5T>C (n.2965-5T>C)
c.3058-5T>C (n.3058-5T>C)
c.2944-5T>C (n.2944-5T>C)
c.2941-5T>C (n.2941-5T>C)
c.2794-5T>C (n.2794-5T>C)
c.1900-5T>C (n.1900-5T>C)
dbSNP gnomAD v4
2g.38997044A>GCA2658713276SOS1c.1732-6T>C (n.1732-6T>C)
n.2972-6T>C
c.*271-6T>C (n.*271-6T>C)
c.2734-6T>C (n.2734-6T>C)
c.2854-6T>C (n.2854-6T>C)
c.661-6T>C (n.661-6T>C)
c.*552-6T>C (n.*552-6T>C)
c.2965-6T>C (n.2965-6T>C)
c.3058-6T>C (n.3058-6T>C)
c.2944-6T>C (n.2944-6T>C)
c.2941-6T>C (n.2941-6T>C)
c.2794-6T>C (n.2794-6T>C)
c.1900-6T>C (n.1900-6T>C)
gnomAD v4
2g.38997045T>ACA2658713278SOS1c.1732-7A>T (n.1732-7A>T)
n.2972-7A>T
c.*271-7A>T (n.*271-7A>T)
c.2734-7A>T (n.2734-7A>T)
c.2854-7A>T (n.2854-7A>T)
c.661-7A>T (n.661-7A>T)
c.*552-7A>T (n.*552-7A>T)
c.2965-7A>T (n.2965-7A>T)
c.3058-7A>T (n.3058-7A>T)
c.2944-7A>T (n.2944-7A>T)
c.2941-7A>T (n.2941-7A>T)
c.2794-7A>T (n.2794-7A>T)
c.1900-7A>T (n.1900-7A>T)
gnomAD v4
2g.38997047A>CCA2576945165SOS1c.1732-9T>G (n.1732-9T>G)
n.2972-9T>G
c.*271-9T>G (n.*271-9T>G)
c.2734-9T>G (n.2734-9T>G)
c.2854-9T>G (n.2854-9T>G)
c.661-9T>G (n.661-9T>G)
c.*552-9T>G (n.*552-9T>G)
c.2965-9T>G (n.2965-9T>G)
c.3058-9T>G (n.3058-9T>G)
c.2944-9T>G (n.2944-9T>G)
c.2941-9T>G (n.2941-9T>G)
c.2794-9T>G (n.2794-9T>G)
c.1900-9T>G (n.1900-9T>G)
2g.38997047A>GCA2658713280SOS1c.1732-9T>C (n.1732-9T>C)
n.2972-9T>C
c.*271-9T>C (n.*271-9T>C)
c.2734-9T>C (n.2734-9T>C)
c.2854-9T>C (n.2854-9T>C)
c.661-9T>C (n.661-9T>C)
c.*552-9T>C (n.*552-9T>C)
c.2965-9T>C (n.2965-9T>C)
c.3058-9T>C (n.3058-9T>C)
c.2944-9T>C (n.2944-9T>C)
c.2941-9T>C (n.2941-9T>C)
c.2794-9T>C (n.2794-9T>C)
c.1900-9T>C (n.1900-9T>C)
gnomAD v4
2g.38997049delCA2658713285SOS1c.1732-11del (n.1732-11del)
n.2972-11del
c.*271-11del (n.*271-11del)
c.2734-11del (n.2734-11del)
c.2854-11del (n.2854-11del)
c.661-11del (n.661-11del)
c.*552-11del (n.*552-11del)
c.2965-11del (n.2965-11del)
c.3058-11del (n.3058-11del)
c.2944-11del (n.2944-11del)
c.2941-11del (n.2941-11del)
c.2794-11del (n.2794-11del)
c.1900-11del (n.1900-11del)
gnomAD v4
2g.38997049T>ACA2658713287SOS1c.1732-11A>T (n.1732-11A>T)
n.2972-11A>T
c.*271-11A>T (n.*271-11A>T)
c.2734-11A>T (n.2734-11A>T)
c.2854-11A>T (n.2854-11A>T)
c.661-11A>T (n.661-11A>T)
c.*552-11A>T (n.*552-11A>T)
c.2965-11A>T (n.2965-11A>T)
c.3058-11A>T (n.3058-11A>T)
c.2944-11A>T (n.2944-11A>T)
c.2941-11A>T (n.2941-11A>T)
c.2794-11A>T (n.2794-11A>T)
c.1900-11A>T (n.1900-11A>T)
gnomAD v4
2g.38997049T>CCA532237853SOS1c.1732-11A>G (n.1732-11A>G)
n.2972-11A>G
c.*271-11A>G (n.*271-11A>G)
c.2734-11A>G (n.2734-11A>G)
c.2854-11A>G (n.2854-11A>G)
c.661-11A>G (n.661-11A>G)
c.*552-11A>G (n.*552-11A>G)
c.2965-11A>G (n.2965-11A>G)
c.3058-11A>G (n.3058-11A>G)
c.2944-11A>G (n.2944-11A>G)
c.2941-11A>G (n.2941-11A>G)
c.2794-11A>G (n.2794-11A>G)
c.1900-11A>G (n.1900-11A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38997049T>GCA2499215935SOS1c.1732-11A>C (n.1732-11A>C)
n.2972-11A>C
c.*271-11A>C (n.*271-11A>C)
c.2734-11A>C (n.2734-11A>C)
c.2854-11A>C (n.2854-11A>C)
c.661-11A>C (n.661-11A>C)
c.*552-11A>C (n.*552-11A>C)
c.2965-11A>C (n.2965-11A>C)
c.3058-11A>C (n.3058-11A>C)
c.2944-11A>C (n.2944-11A>C)
c.2941-11A>C (n.2941-11A>C)
c.2794-11A>C (n.2794-11A>C)
c.1900-11A>C (n.1900-11A>C)
ClinVar dbSNP
2g.38997049T=CA1246123949SOS1c.1732-11A= (n.1732-11A=)
n.2972-11A=
c.*271-11A= (n.*271-11A=)
c.2734-11A= (n.2734-11A=)
c.2854-11A= (n.2854-11A=)
c.661-11A= (n.661-11A=)
c.*552-11A= (n.*552-11A=)
c.2965-11A= (n.2965-11A=)
c.3058-11A= (n.3058-11A=)
c.2944-11A= (n.2944-11A=)
c.2941-11A= (n.2941-11A=)
c.2794-11A= (n.2794-11A=)
c.1900-11A= (n.1900-11A=)
2g.38997050G>ACA2658713289SOS1c.1732-12C>T (n.1732-12C>T)
n.2972-12C>T
c.*271-12C>T (n.*271-12C>T)
c.2734-12C>T (n.2734-12C>T)
c.2854-12C>T (n.2854-12C>T)
c.661-12C>T (n.661-12C>T)
c.*552-12C>T (n.*552-12C>T)
c.2965-12C>T (n.2965-12C>T)
c.3058-12C>T (n.3058-12C>T)
c.2944-12C>T (n.2944-12C>T)
c.2941-12C>T (n.2941-12C>T)
c.2794-12C>T (n.2794-12C>T)
c.1900-12C>T (n.1900-12C>T)
gnomAD v4
2g.38997050G>TCA2658713290SOS1c.1732-12C>A (n.1732-12C>A)
n.2972-12C>A
c.*271-12C>A (n.*271-12C>A)
c.2734-12C>A (n.2734-12C>A)
c.2854-12C>A (n.2854-12C>A)
c.661-12C>A (n.661-12C>A)
c.*552-12C>A (n.*552-12C>A)
c.2965-12C>A (n.2965-12C>A)
c.3058-12C>A (n.3058-12C>A)
c.2944-12C>A (n.2944-12C>A)
c.2941-12C>A (n.2941-12C>A)
c.2794-12C>A (n.2794-12C>A)
c.1900-12C>A (n.1900-12C>A)
gnomAD v4
2g.38997051C>ACA2523581676SOS1c.1732-13G>T (n.1732-13G>T)
n.2972-13G>T
c.*271-13G>T (n.*271-13G>T)
c.2734-13G>T (n.2734-13G>T)
c.2854-13G>T (n.2854-13G>T)
c.661-13G>T (n.661-13G>T)
c.*552-13G>T (n.*552-13G>T)
c.2965-13G>T (n.2965-13G>T)
c.3058-13G>T (n.3058-13G>T)
c.2944-13G>T (n.2944-13G>T)
c.2941-13G>T (n.2941-13G>T)
c.2794-13G>T (n.2794-13G>T)
c.1900-13G>T (n.1900-13G>T)
gnomAD v4
2g.38997051C>TCA2658713292SOS1c.1732-13G>A (n.1732-13G>A)
n.2972-13G>A
c.*271-13G>A (n.*271-13G>A)
c.2734-13G>A (n.2734-13G>A)
c.2854-13G>A (n.2854-13G>A)
c.661-13G>A (n.661-13G>A)
c.*552-13G>A (n.*552-13G>A)
c.2965-13G>A (n.2965-13G>A)
c.3058-13G>A (n.3058-13G>A)
c.2944-13G>A (n.2944-13G>A)
c.2941-13G>A (n.2941-13G>A)
c.2794-13G>A (n.2794-13G>A)
c.1900-13G>A (n.1900-13G>A)
gnomAD v4
2g.38997052A>CCA2658713295SOS1c.1732-14T>G (n.1732-14T>G)
n.2972-14T>G
c.*271-14T>G (n.*271-14T>G)
c.2734-14T>G (n.2734-14T>G)
c.2854-14T>G (n.2854-14T>G)
c.661-14T>G (n.661-14T>G)
c.*552-14T>G (n.*552-14T>G)
c.2965-14T>G (n.2965-14T>G)
c.3058-14T>G (n.3058-14T>G)
c.2944-14T>G (n.2944-14T>G)
c.2941-14T>G (n.2941-14T>G)
c.2794-14T>G (n.2794-14T>G)
c.1900-14T>G (n.1900-14T>G)
gnomAD v4
2g.38997052A>GCA2658713294SOS1c.1732-14T>C (n.1732-14T>C)
n.2972-14T>C
c.*271-14T>C (n.*271-14T>C)
c.2734-14T>C (n.2734-14T>C)
c.2854-14T>C (n.2854-14T>C)
c.661-14T>C (n.661-14T>C)
c.*552-14T>C (n.*552-14T>C)
c.2965-14T>C (n.2965-14T>C)
c.3058-14T>C (n.3058-14T>C)
c.2944-14T>C (n.2944-14T>C)
c.2941-14T>C (n.2941-14T>C)
c.2794-14T>C (n.2794-14T>C)
c.1900-14T>C (n.1900-14T>C)
gnomAD v4
2g.38997055G>ACA2658713298SOS1c.1732-17C>T (n.1732-17C>T)
n.2972-17C>T
c.*271-17C>T (n.*271-17C>T)
c.2734-17C>T (n.2734-17C>T)
c.2854-17C>T (n.2854-17C>T)
c.661-17C>T (n.661-17C>T)
c.*552-17C>T (n.*552-17C>T)
c.2965-17C>T (n.2965-17C>T)
c.3058-17C>T (n.3058-17C>T)
c.2944-17C>T (n.2944-17C>T)
c.2941-17C>T (n.2941-17C>T)
c.2794-17C>T (n.2794-17C>T)
c.1900-17C>T (n.1900-17C>T)
gnomAD v4
2g.38997055G=CA1246123950SOS1c.1732-17C= (n.1732-17C=)
n.2972-17C=
c.*271-17C= (n.*271-17C=)
c.2734-17C= (n.2734-17C=)
c.2854-17C= (n.2854-17C=)
c.661-17C= (n.661-17C=)
c.*552-17C= (n.*552-17C=)
c.2965-17C= (n.2965-17C=)
c.3058-17C= (n.3058-17C=)
c.2944-17C= (n.2944-17C=)
c.2941-17C= (n.2941-17C=)
c.2794-17C= (n.2794-17C=)
c.1900-17C= (n.1900-17C=)
2g.38997055G>TCA45647403SOS1c.1732-17C>A (n.1732-17C>A)
n.2972-17C>A
c.*271-17C>A (n.*271-17C>A)
c.2734-17C>A (n.2734-17C>A)
c.2854-17C>A (n.2854-17C>A)
c.661-17C>A (n.661-17C>A)
c.*552-17C>A (n.*552-17C>A)
c.2965-17C>A (n.2965-17C>A)
c.3058-17C>A (n.3058-17C>A)
c.2944-17C>A (n.2944-17C>A)
c.2941-17C>A (n.2941-17C>A)
c.2794-17C>A (n.2794-17C>A)
c.1900-17C>A (n.1900-17C>A)
ClinVar dbSNP gnomAD v4
2g.38997055_38997056delinsGACA1246123951SOS1c.1732-18_1732-17delinsTC (n.1732-18_1732-17delinsTC)
n.2972-18_2972-17delinsTC
c.*271-18_*271-17delinsTC (n.*271-18_*271-17delinsTC)
c.2734-18_2734-17delinsTC (n.2734-18_2734-17delinsTC)
c.2854-18_2854-17delinsTC (n.2854-18_2854-17delinsTC)
c.661-18_661-17delinsTC (n.661-18_661-17delinsTC)
c.*552-18_*552-17delinsTC (n.*552-18_*552-17delinsTC)
c.2965-18_2965-17delinsTC (n.2965-18_2965-17delinsTC)
c.3058-18_3058-17delinsTC (n.3058-18_3058-17delinsTC)
c.2944-18_2944-17delinsTC (n.2944-18_2944-17delinsTC)
c.2941-18_2941-17delinsTC (n.2941-18_2941-17delinsTC)
c.2794-18_2794-17delinsTC (n.2794-18_2794-17delinsTC)
c.1900-18_1900-17delinsTC (n.1900-18_1900-17delinsTC)
2g.38997056A>GCA2658713304SOS1c.1732-18T>C (n.1732-18T>C)
n.2972-18T>C
c.*271-18T>C (n.*271-18T>C)
c.2734-18T>C (n.2734-18T>C)
c.2854-18T>C (n.2854-18T>C)
c.661-18T>C (n.661-18T>C)
c.*552-18T>C (n.*552-18T>C)
c.2965-18T>C (n.2965-18T>C)
c.3058-18T>C (n.3058-18T>C)
c.2944-18T>C (n.2944-18T>C)
c.2941-18T>C (n.2941-18T>C)
c.2794-18T>C (n.2794-18T>C)
c.1900-18T>C (n.1900-18T>C)
gnomAD v4
2g.38997061dupCA532237854SOS1c.1732-18dup (n.1732-18dup)
n.2972-18dup
c.*271-18dup (n.*271-18dup)
c.2734-18dup (n.2734-18dup)
c.2854-18dup (n.2854-18dup)
c.661-18dup (n.661-18dup)
c.*552-18dup (n.*552-18dup)
c.2965-18dup (n.2965-18dup)
c.3058-18dup (n.3058-18dup)
c.2944-18dup (n.2944-18dup)
c.2941-18dup (n.2941-18dup)
c.2794-18dup (n.2794-18dup)
c.1900-18dup (n.1900-18dup)
dbSNP gnomAD v2 gnomAD v4
2g.38997061delCA1246123952SOS1c.1732-18del (n.1732-18del)
n.2972-18del
c.*271-18del (n.*271-18del)
c.2734-18del (n.2734-18del)
c.2854-18del (n.2854-18del)
c.661-18del (n.661-18del)
c.*552-18del (n.*552-18del)
c.2965-18del (n.2965-18del)
c.3058-18del (n.3058-18del)
c.2944-18del (n.2944-18del)
c.2941-18del (n.2941-18del)
c.2794-18del (n.2794-18del)
c.1900-18del (n.1900-18del)
dbSNP gnomAD v4
2g.38997057A=CA1246123953SOS1c.1732-19T= (n.1732-19T=)
n.2972-19T=
c.*271-19T= (n.*271-19T=)
c.2734-19T= (n.2734-19T=)
c.2854-19T= (n.2854-19T=)
c.661-19T= (n.661-19T=)
c.*552-19T= (n.*552-19T=)
c.2965-19T= (n.2965-19T=)
c.3058-19T= (n.3058-19T=)
c.2944-19T= (n.2944-19T=)
c.2941-19T= (n.2941-19T=)
c.2794-19T= (n.2794-19T=)
c.1900-19T= (n.1900-19T=)
2g.38997066_38997081dupCA1624287SOS1c.1732-35_1732-20dup (n.1732-35_1732-20dup)
n.2972-35_2972-20dup
c.*271-35_*271-20dup (n.*271-35_*271-20dup)
c.2734-35_2734-20dup (n.2734-35_2734-20dup)
c.2854-35_2854-20dup (n.2854-35_2854-20dup)
c.661-35_661-20dup (n.661-35_661-20dup)
c.*552-35_*552-20dup (n.*552-35_*552-20dup)
c.2965-35_2965-20dup (n.2965-35_2965-20dup)
c.3058-35_3058-20dup (n.3058-35_3058-20dup)
c.2944-35_2944-20dup (n.2944-35_2944-20dup)
c.2941-35_2941-20dup (n.2941-35_2941-20dup)
c.2794-35_2794-20dup (n.2794-35_2794-20dup)
c.1900-35_1900-20dup (n.1900-35_1900-20dup)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.38997059A=CA1246123954SOS1c.1732-21T= (n.1732-21T=)
n.2972-21T=
c.*271-21T= (n.*271-21T=)
c.2734-21T= (n.2734-21T=)
c.2854-21T= (n.2854-21T=)
c.661-21T= (n.661-21T=)
c.*552-21T= (n.*552-21T=)
c.2965-21T= (n.2965-21T=)
c.3058-21T= (n.3058-21T=)
c.2944-21T= (n.2944-21T=)
c.2941-21T= (n.2941-21T=)
c.2794-21T= (n.2794-21T=)
c.1900-21T= (n.1900-21T=)
2g.38997059A>GCA1624288SOS1c.1732-21T>C (n.1732-21T>C)
n.2972-21T>C
c.*271-21T>C (n.*271-21T>C)
c.2734-21T>C (n.2734-21T>C)
c.2854-21T>C (n.2854-21T>C)
c.661-21T>C (n.661-21T>C)
c.*552-21T>C (n.*552-21T>C)
c.2965-21T>C (n.2965-21T>C)
c.3058-21T>C (n.3058-21T>C)
c.2944-21T>C (n.2944-21T>C)
c.2941-21T>C (n.2941-21T>C)
c.2794-21T>C (n.2794-21T>C)
c.1900-21T>C (n.1900-21T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.38997060_38997063delinsAATTCA1246123955SOS1c.1732-25_1732-22delinsAATT (n.1732-25_1732-22delinsAATT)
n.2972-25_2972-22delinsAATT
c.*271-25_*271-22delinsAATT (n.*271-25_*271-22delinsAATT)
c.2734-25_2734-22delinsAATT (n.2734-25_2734-22delinsAATT)
c.2854-25_2854-22delinsAATT (n.2854-25_2854-22delinsAATT)
c.661-25_661-22delinsAATT (n.661-25_661-22delinsAATT)
c.*552-25_*552-22delinsAATT (n.*552-25_*552-22delinsAATT)
c.2965-25_2965-22delinsAATT (n.2965-25_2965-22delinsAATT)
c.3058-25_3058-22delinsAATT (n.3058-25_3058-22delinsAATT)
c.2944-25_2944-22delinsAATT (n.2944-25_2944-22delinsAATT)
c.2941-25_2941-22delinsAATT (n.2941-25_2941-22delinsAATT)
c.2794-25_2794-22delinsAATT (n.2794-25_2794-22delinsAATT)
c.1900-25_1900-22delinsAATT (n.1900-25_1900-22delinsAATT)
2g.38997061_38997062insACCAAACACACCCAACACACA2749574102SOS1c.1732-23_1732-22insGTGTTGGGTGTGTTTGGTT (n.1732-23_1732-22insGTGTTGGGTGTGTTTGGTT)
n.2972-23_2972-22insGTGTTGGGTGTGTTTGGTT
c.*271-23_*271-22insGTGTTGGGTGTGTTTGGTT (n.*271-23_*271-22insGTGTTGGGTGTGTTTGGTT)
c.2734-23_2734-22insGTGTTGGGTGTGTTTGGTT (n.2734-23_2734-22insGTGTTGGGTGTGTTTGGTT)
c.2854-23_2854-22insGTGTTGGGTGTGTTTGGTT (n.2854-23_2854-22insGTGTTGGGTGTGTTTGGTT)
c.661-23_661-22insGTGTTGGGTGTGTTTGGTT (n.661-23_661-22insGTGTTGGGTGTGTTTGGTT)
c.*552-23_*552-22insGTGTTGGGTGTGTTTGGTT (n.*552-23_*552-22insGTGTTGGGTGTGTTTGGTT)
c.2965-23_2965-22insGTGTTGGGTGTGTTTGGTT (n.2965-23_2965-22insGTGTTGGGTGTGTTTGGTT)
c.3058-23_3058-22insGTGTTGGGTGTGTTTGGTT (n.3058-23_3058-22insGTGTTGGGTGTGTTTGGTT)
c.2944-23_2944-22insGTGTTGGGTGTGTTTGGTT (n.2944-23_2944-22insGTGTTGGGTGTGTTTGGTT)
c.2941-23_2941-22insGTGTTGGGTGTGTTTGGTT (n.2941-23_2941-22insGTGTTGGGTGTGTTTGGTT)
c.2794-23_2794-22insGTGTTGGGTGTGTTTGGTT (n.2794-23_2794-22insGTGTTGGGTGTGTTTGGTT)
c.1900-23_1900-22insGTGTTGGGTGTGTTTGGTT (n.1900-23_1900-22insGTGTTGGGTGTGTTTGGTT)
2g.38997061_38997062insCCCAAACACACCCAACACACA2749574103SOS1c.1732-23_1732-22insGTGTTGGGTGTGTTTGGGT (n.1732-23_1732-22insGTGTTGGGTGTGTTTGGGT)
n.2972-23_2972-22insGTGTTGGGTGTGTTTGGGT
c.*271-23_*271-22insGTGTTGGGTGTGTTTGGGT (n.*271-23_*271-22insGTGTTGGGTGTGTTTGGGT)
c.2734-23_2734-22insGTGTTGGGTGTGTTTGGGT (n.2734-23_2734-22insGTGTTGGGTGTGTTTGGGT)
c.2854-23_2854-22insGTGTTGGGTGTGTTTGGGT (n.2854-23_2854-22insGTGTTGGGTGTGTTTGGGT)
c.661-23_661-22insGTGTTGGGTGTGTTTGGGT (n.661-23_661-22insGTGTTGGGTGTGTTTGGGT)
c.*552-23_*552-22insGTGTTGGGTGTGTTTGGGT (n.*552-23_*552-22insGTGTTGGGTGTGTTTGGGT)
c.2965-23_2965-22insGTGTTGGGTGTGTTTGGGT (n.2965-23_2965-22insGTGTTGGGTGTGTTTGGGT)
c.3058-23_3058-22insGTGTTGGGTGTGTTTGGGT (n.3058-23_3058-22insGTGTTGGGTGTGTTTGGGT)
c.2944-23_2944-22insGTGTTGGGTGTGTTTGGGT (n.2944-23_2944-22insGTGTTGGGTGTGTTTGGGT)
c.2941-23_2941-22insGTGTTGGGTGTGTTTGGGT (n.2941-23_2941-22insGTGTTGGGTGTGTTTGGGT)
c.2794-23_2794-22insGTGTTGGGTGTGTTTGGGT (n.2794-23_2794-22insGTGTTGGGTGTGTTTGGGT)
c.1900-23_1900-22insGTGTTGGGTGTGTTTGGGT (n.1900-23_1900-22insGTGTTGGGTGTGTTTGGGT)
2g.38997065_38997067delCA768532178SOS1c.1732-25_1732-23del (n.1732-25_1732-23del)
n.2972-25_2972-23del
c.*271-25_*271-23del (n.*271-25_*271-23del)
c.2734-25_2734-23del (n.2734-25_2734-23del)
c.2854-25_2854-23del (n.2854-25_2854-23del)
c.661-25_661-23del (n.661-25_661-23del)
c.*552-25_*552-23del (n.*552-25_*552-23del)
c.2965-25_2965-23del (n.2965-25_2965-23del)
c.3058-25_3058-23del (n.3058-25_3058-23del)
c.2944-25_2944-23del (n.2944-25_2944-23del)
c.2941-25_2941-23del (n.2941-25_2941-23del)
c.2794-25_2794-23del (n.2794-25_2794-23del)
c.1900-25_1900-23del (n.1900-25_1900-23del)
dbSNP gnomAD v3 gnomAD v4
2g.38997062T>GCA1624289SOS1c.1732-24A>C (n.1732-24A>C)
n.2972-24A>C
c.*271-24A>C (n.*271-24A>C)
c.2734-24A>C (n.2734-24A>C)
c.2854-24A>C (n.2854-24A>C)
c.661-24A>C (n.661-24A>C)
c.*552-24A>C (n.*552-24A>C)
c.2965-24A>C (n.2965-24A>C)
c.3058-24A>C (n.3058-24A>C)
c.2944-24A>C (n.2944-24A>C)
c.2941-24A>C (n.2941-24A>C)
c.2794-24A>C (n.2794-24A>C)
c.1900-24A>C (n.1900-24A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.38997062T=CA1246123956SOS1c.1732-24A= (n.1732-24A=)
n.2972-24A=
c.*271-24A= (n.*271-24A=)
c.2734-24A= (n.2734-24A=)
c.2854-24A= (n.2854-24A=)
c.661-24A= (n.661-24A=)
c.*552-24A= (n.*552-24A=)
c.2965-24A= (n.2965-24A=)
c.3058-24A= (n.3058-24A=)
c.2944-24A= (n.2944-24A=)
c.2941-24A= (n.2941-24A=)
c.2794-24A= (n.2794-24A=)
c.1900-24A= (n.1900-24A=)
2g.38997063T>CCA1246123958SOS1c.1732-25A>G (n.1732-25A>G)
n.2972-25A>G
c.*271-25A>G (n.*271-25A>G)
c.2734-25A>G (n.2734-25A>G)
c.2854-25A>G (n.2854-25A>G)
c.661-25A>G (n.661-25A>G)
c.*552-25A>G (n.*552-25A>G)
c.2965-25A>G (n.2965-25A>G)
c.3058-25A>G (n.3058-25A>G)
c.2944-25A>G (n.2944-25A>G)
c.2941-25A>G (n.2941-25A>G)
c.2794-25A>G (n.2794-25A>G)
c.1900-25A>G (n.1900-25A>G)
dbSNP
2g.38997063T=CA1246123957SOS1c.1732-25A= (n.1732-25A=)
n.2972-25A=
c.*271-25A= (n.*271-25A=)
c.2734-25A= (n.2734-25A=)
c.2854-25A= (n.2854-25A=)
c.661-25A= (n.661-25A=)
c.*552-25A= (n.*552-25A=)
c.2965-25A= (n.2965-25A=)
c.3058-25A= (n.3058-25A=)
c.2944-25A= (n.2944-25A=)
c.2941-25A= (n.2941-25A=)
c.2794-25A= (n.2794-25A=)
c.1900-25A= (n.1900-25A=)
2g.38997067_38997072delCA2658713313SOS1c.1732-30_1732-25del (n.1732-30_1732-25del)
n.2972-30_2972-25del
c.*271-30_*271-25del (n.*271-30_*271-25del)
c.2734-30_2734-25del (n.2734-30_2734-25del)
c.2854-30_2854-25del (n.2854-30_2854-25del)
c.661-30_661-25del (n.661-30_661-25del)
c.*552-30_*552-25del (n.*552-30_*552-25del)
c.2965-30_2965-25del (n.2965-30_2965-25del)
c.3058-30_3058-25del (n.3058-30_3058-25del)
c.2944-30_2944-25del (n.2944-30_2944-25del)
c.2941-30_2941-25del (n.2941-30_2941-25del)
c.2794-30_2794-25del (n.2794-30_2794-25del)
c.1900-30_1900-25del (n.1900-30_1900-25del)
gnomAD v4
2g.38997064delCA2658713315SOS1c.1732-26del (n.1732-26del)
n.2972-26del
c.*271-26del (n.*271-26del)
c.2734-26del (n.2734-26del)
c.2854-26del (n.2854-26del)
c.661-26del (n.661-26del)
c.*552-26del (n.*552-26del)
c.2965-26del (n.2965-26del)
c.3058-26del (n.3058-26del)
c.2944-26del (n.2944-26del)
c.2941-26del (n.2941-26del)
c.2794-26del (n.2794-26del)
c.1900-26del (n.1900-26del)
gnomAD v4
2g.38997065T>CCA1246123959SOS1c.1732-27A>G (n.1732-27A>G)
n.2972-27A>G
c.*271-27A>G (n.*271-27A>G)
c.2734-27A>G (n.2734-27A>G)
c.2854-27A>G (n.2854-27A>G)
c.661-27A>G (n.661-27A>G)
c.*552-27A>G (n.*552-27A>G)
c.2965-27A>G (n.2965-27A>G)
c.3058-27A>G (n.3058-27A>G)
c.2944-27A>G (n.2944-27A>G)
c.2941-27A>G (n.2941-27A>G)
c.2794-27A>G (n.2794-27A>G)
c.1900-27A>G (n.1900-27A>G)
dbSNP gnomAD v4
2g.38997065T=CA1246123960SOS1c.1732-27A= (n.1732-27A=)
n.2972-27A=
c.*271-27A= (n.*271-27A=)
c.2734-27A= (n.2734-27A=)
c.2854-27A= (n.2854-27A=)
c.661-27A= (n.661-27A=)
c.*552-27A= (n.*552-27A=)
c.2965-27A= (n.2965-27A=)
c.3058-27A= (n.3058-27A=)
c.2944-27A= (n.2944-27A=)
c.2941-27A= (n.2941-27A=)
c.2794-27A= (n.2794-27A=)
c.1900-27A= (n.1900-27A=)
2g.38997065_38997068delinsTTAACA1246123961SOS1c.1732-30_1732-27delinsTTAA (n.1732-30_1732-27delinsTTAA)
n.2972-30_2972-27delinsTTAA
c.*271-30_*271-27delinsTTAA (n.*271-30_*271-27delinsTTAA)
c.2734-30_2734-27delinsTTAA (n.2734-30_2734-27delinsTTAA)
c.2854-30_2854-27delinsTTAA (n.2854-30_2854-27delinsTTAA)
c.661-30_661-27delinsTTAA (n.661-30_661-27delinsTTAA)
c.*552-30_*552-27delinsTTAA (n.*552-30_*552-27delinsTTAA)
c.2965-30_2965-27delinsTTAA (n.2965-30_2965-27delinsTTAA)
c.3058-30_3058-27delinsTTAA (n.3058-30_3058-27delinsTTAA)
c.2944-30_2944-27delinsTTAA (n.2944-30_2944-27delinsTTAA)
c.2941-30_2941-27delinsTTAA (n.2941-30_2941-27delinsTTAA)
c.2794-30_2794-27delinsTTAA (n.2794-30_2794-27delinsTTAA)
c.1900-30_1900-27delinsTTAA (n.1900-30_1900-27delinsTTAA)
2g.38997065_38997066insAGTCCA2749574104SOS1c.1732-28_1732-27insGACT (n.1732-28_1732-27insGACT)
n.2972-28_2972-27insGACT
c.*271-28_*271-27insGACT (n.*271-28_*271-27insGACT)
c.2734-28_2734-27insGACT (n.2734-28_2734-27insGACT)
c.2854-28_2854-27insGACT (n.2854-28_2854-27insGACT)
c.661-28_661-27insGACT (n.661-28_661-27insGACT)
c.*552-28_*552-27insGACT (n.*552-28_*552-27insGACT)
c.2965-28_2965-27insGACT (n.2965-28_2965-27insGACT)
c.3058-28_3058-27insGACT (n.3058-28_3058-27insGACT)
c.2944-28_2944-27insGACT (n.2944-28_2944-27insGACT)
c.2941-28_2941-27insGACT (n.2941-28_2941-27insGACT)
c.2794-28_2794-27insGACT (n.2794-28_2794-27insGACT)
c.1900-28_1900-27insGACT (n.1900-28_1900-27insGACT)
2g.38997066T>ACA2576945166SOS1c.1732-28A>T (n.1732-28A>T)
n.2972-28A>T
c.*271-28A>T (n.*271-28A>T)
c.2734-28A>T (n.2734-28A>T)
c.2854-28A>T (n.2854-28A>T)
c.661-28A>T (n.661-28A>T)
c.*552-28A>T (n.*552-28A>T)
c.2965-28A>T (n.2965-28A>T)
c.3058-28A>T (n.3058-28A>T)
c.2944-28A>T (n.2944-28A>T)
c.2941-28A>T (n.2941-28A>T)
c.2794-28A>T (n.2794-28A>T)
c.1900-28A>T (n.1900-28A>T)
gnomAD v4
2g.38997068_38997070delCA1624290SOS1c.1732-30_1732-28del (n.1732-30_1732-28del)
n.2972-30_2972-28del
c.*271-30_*271-28del (n.*271-30_*271-28del)
c.2734-30_2734-28del (n.2734-30_2734-28del)
c.2854-30_2854-28del (n.2854-30_2854-28del)
c.661-30_661-28del (n.661-30_661-28del)
c.*552-30_*552-28del (n.*552-30_*552-28del)
c.2965-30_2965-28del (n.2965-30_2965-28del)
c.3058-30_3058-28del (n.3058-30_3058-28del)
c.2944-30_2944-28del (n.2944-30_2944-28del)
c.2941-30_2941-28del (n.2941-30_2941-28del)
c.2794-30_2794-28del (n.2794-30_2794-28del)
c.1900-30_1900-28del (n.1900-30_1900-28del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38997067A=CA1246123962SOS1c.1732-29T= (n.1732-29T=)
n.2972-29T=
c.*271-29T= (n.*271-29T=)
c.2734-29T= (n.2734-29T=)
c.2854-29T= (n.2854-29T=)
c.661-29T= (n.661-29T=)
c.*552-29T= (n.*552-29T=)
c.2965-29T= (n.2965-29T=)
c.3058-29T= (n.3058-29T=)
c.2944-29T= (n.2944-29T=)
c.2941-29T= (n.2941-29T=)
c.2794-29T= (n.2794-29T=)
c.1900-29T= (n.1900-29T=)
2g.38997067A>TCA532237855SOS1c.1732-29T>A (n.1732-29T>A)
n.2972-29T>A
c.*271-29T>A (n.*271-29T>A)
c.2734-29T>A (n.2734-29T>A)
c.2854-29T>A (n.2854-29T>A)
c.661-29T>A (n.661-29T>A)
c.*552-29T>A (n.*552-29T>A)
c.2965-29T>A (n.2965-29T>A)
c.3058-29T>A (n.3058-29T>A)
c.2944-29T>A (n.2944-29T>A)
c.2941-29T>A (n.2941-29T>A)
c.2794-29T>A (n.2794-29T>A)
c.1900-29T>A (n.1900-29T>A)
dbSNP gnomAD v2 gnomAD v4
2g.38997068A>GCA2658713320SOS1c.1732-30T>C (n.1732-30T>C)
n.2972-30T>C
c.*271-30T>C (n.*271-30T>C)
c.2734-30T>C (n.2734-30T>C)
c.2854-30T>C (n.2854-30T>C)
c.661-30T>C (n.661-30T>C)
c.*552-30T>C (n.*552-30T>C)
c.2965-30T>C (n.2965-30T>C)
c.3058-30T>C (n.3058-30T>C)
c.2944-30T>C (n.2944-30T>C)
c.2941-30T>C (n.2941-30T>C)
c.2794-30T>C (n.2794-30T>C)
c.1900-30T>C (n.1900-30T>C)
gnomAD v4
2g.38997069T>CCA2658713321SOS1c.1732-31A>G (n.1732-31A>G)
n.2972-31A>G
c.*271-31A>G (n.*271-31A>G)
c.2734-31A>G (n.2734-31A>G)
c.2854-31A>G (n.2854-31A>G)
c.661-31A>G (n.661-31A>G)
c.*552-31A>G (n.*552-31A>G)
c.2965-31A>G (n.2965-31A>G)
c.3058-31A>G (n.3058-31A>G)
c.2944-31A>G (n.2944-31A>G)
c.2941-31A>G (n.2941-31A>G)
c.2794-31A>G (n.2794-31A>G)
c.1900-31A>G (n.1900-31A>G)
gnomAD v4
2g.38997071T>ACA768532185SOS1c.1732-33A>T (n.1732-33A>T)
n.2972-33A>T
c.*271-33A>T (n.*271-33A>T)
c.2734-33A>T (n.2734-33A>T)
c.2854-33A>T (n.2854-33A>T)
c.661-33A>T (n.661-33A>T)
c.*552-33A>T (n.*552-33A>T)
c.2965-33A>T (n.2965-33A>T)
c.3058-33A>T (n.3058-33A>T)
c.2944-33A>T (n.2944-33A>T)
c.2941-33A>T (n.2941-33A>T)
c.2794-33A>T (n.2794-33A>T)
c.1900-33A>T (n.1900-33A>T)
dbSNP gnomAD v4
2g.38997071T=CA1246123963SOS1c.1732-33A= (n.1732-33A=)
n.2972-33A=
c.*271-33A= (n.*271-33A=)
c.2734-33A= (n.2734-33A=)
c.2854-33A= (n.2854-33A=)
c.661-33A= (n.661-33A=)
c.*552-33A= (n.*552-33A=)
c.2965-33A= (n.2965-33A=)
c.3058-33A= (n.3058-33A=)
c.2944-33A= (n.2944-33A=)
c.2941-33A= (n.2941-33A=)
c.2794-33A= (n.2794-33A=)
c.1900-33A= (n.1900-33A=)
2g.38997072T>GCA532237856SOS1c.1732-34A>C (n.1732-34A>C)
n.2972-34A>C
c.*271-34A>C (n.*271-34A>C)
c.2734-34A>C (n.2734-34A>C)
c.2854-34A>C (n.2854-34A>C)
c.661-34A>C (n.661-34A>C)
c.*552-34A>C (n.*552-34A>C)
c.2965-34A>C (n.2965-34A>C)
c.3058-34A>C (n.3058-34A>C)
c.2944-34A>C (n.2944-34A>C)
c.2941-34A>C (n.2941-34A>C)
c.2794-34A>C (n.2794-34A>C)
c.1900-34A>C (n.1900-34A>C)
dbSNP gnomAD v2 gnomAD v4
2g.38997072T=CA1246123964SOS1c.1732-34A= (n.1732-34A=)
n.2972-34A=
c.*271-34A= (n.*271-34A=)
c.2734-34A= (n.2734-34A=)
c.2854-34A= (n.2854-34A=)
c.661-34A= (n.661-34A=)
c.*552-34A= (n.*552-34A=)
c.2965-34A= (n.2965-34A=)
c.3058-34A= (n.3058-34A=)
c.2944-34A= (n.2944-34A=)
c.2941-34A= (n.2941-34A=)
c.2794-34A= (n.2794-34A=)
c.1900-34A= (n.1900-34A=)
2g.38997073C>ACA2658713326SOS1c.1732-35G>T (n.1732-35G>T)
n.2972-35G>T
c.*271-35G>T (n.*271-35G>T)
c.2734-35G>T (n.2734-35G>T)
c.2854-35G>T (n.2854-35G>T)
c.661-35G>T (n.661-35G>T)
c.*552-35G>T (n.*552-35G>T)
c.2965-35G>T (n.2965-35G>T)
c.3058-35G>T (n.3058-35G>T)
c.2944-35G>T (n.2944-35G>T)
c.2941-35G>T (n.2941-35G>T)
c.2794-35G>T (n.2794-35G>T)
c.1900-35G>T (n.1900-35G>T)
gnomAD v4
2g.38997074A>CCA2576945167SOS1c.1732-36T>G (n.1732-36T>G)
n.2972-36T>G
c.*271-36T>G (n.*271-36T>G)
c.2734-36T>G (n.2734-36T>G)
c.2854-36T>G (n.2854-36T>G)
c.661-36T>G (n.661-36T>G)
c.*552-36T>G (n.*552-36T>G)
c.2965-36T>G (n.2965-36T>G)
c.3058-36T>G (n.3058-36T>G)
c.2944-36T>G (n.2944-36T>G)
c.2941-36T>G (n.2941-36T>G)
c.2794-36T>G (n.2794-36T>G)
c.1900-36T>G (n.1900-36T>G)
2g.38997076A>GCA2576945168SOS1c.1732-38T>C (n.1732-38T>C)
n.2972-38T>C
c.*271-38T>C (n.*271-38T>C)
c.2734-38T>C (n.2734-38T>C)
c.2854-38T>C (n.2854-38T>C)
c.661-38T>C (n.661-38T>C)
c.*552-38T>C (n.*552-38T>C)
c.2965-38T>C (n.2965-38T>C)
c.3058-38T>C (n.3058-38T>C)
c.2944-38T>C (n.2944-38T>C)
c.2941-38T>C (n.2941-38T>C)
c.2794-38T>C (n.2794-38T>C)
c.1900-38T>C (n.1900-38T>C)
2g.38997076_38997077insCTGCA2658713327SOS1c.1732-39_1732-38insCAG (n.1732-39_1732-38insCAG)
n.2972-39_2972-38insCAG
c.*271-39_*271-38insCAG (n.*271-39_*271-38insCAG)
c.2734-39_2734-38insCAG (n.2734-39_2734-38insCAG)
c.2854-39_2854-38insCAG (n.2854-39_2854-38insCAG)
c.661-39_661-38insCAG (n.661-39_661-38insCAG)
c.*552-39_*552-38insCAG (n.*552-39_*552-38insCAG)
c.2965-39_2965-38insCAG (n.2965-39_2965-38insCAG)
c.3058-39_3058-38insCAG (n.3058-39_3058-38insCAG)
c.2944-39_2944-38insCAG (n.2944-39_2944-38insCAG)
c.2941-39_2941-38insCAG (n.2941-39_2941-38insCAG)
c.2794-39_2794-38insCAG (n.2794-39_2794-38insCAG)
c.1900-39_1900-38insCAG (n.1900-39_1900-38insCAG)
gnomAD v4
2g.38997077A>GCA2658713329SOS1c.1732-39T>C (n.1732-39T>C)
n.2972-39T>C
c.*271-39T>C (n.*271-39T>C)
c.2734-39T>C (n.2734-39T>C)
c.2854-39T>C (n.2854-39T>C)
c.661-39T>C (n.661-39T>C)
c.*552-39T>C (n.*552-39T>C)
c.2965-39T>C (n.2965-39T>C)
c.3058-39T>C (n.3058-39T>C)
c.2944-39T>C (n.2944-39T>C)
c.2941-39T>C (n.2941-39T>C)
c.2794-39T>C (n.2794-39T>C)
c.1900-39T>C (n.1900-39T>C)
gnomAD v4
2g.38997079T>CCA2658713330SOS1c.1732-41A>G (n.1732-41A>G)
n.2972-41A>G
c.*271-41A>G (n.*271-41A>G)
c.2734-41A>G (n.2734-41A>G)
c.2854-41A>G (n.2854-41A>G)
c.661-41A>G (n.661-41A>G)
c.*552-41A>G (n.*552-41A>G)
c.2965-41A>G (n.2965-41A>G)
c.3058-41A>G (n.3058-41A>G)
c.2944-41A>G (n.2944-41A>G)
c.2941-41A>G (n.2941-41A>G)
c.2794-41A>G (n.2794-41A>G)
c.1900-41A>G (n.1900-41A>G)
gnomAD v4
2g.38997079T>GCA1624291SOS1c.1732-41A>C (n.1732-41A>C)
n.2972-41A>C
c.*271-41A>C (n.*271-41A>C)
c.2734-41A>C (n.2734-41A>C)
c.2854-41A>C (n.2854-41A>C)
c.661-41A>C (n.661-41A>C)
c.*552-41A>C (n.*552-41A>C)
c.2965-41A>C (n.2965-41A>C)
c.3058-41A>C (n.3058-41A>C)
c.2944-41A>C (n.2944-41A>C)
c.2941-41A>C (n.2941-41A>C)
c.2794-41A>C (n.2794-41A>C)
c.1900-41A>C (n.1900-41A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38997079T=CA1246123965SOS1c.1732-41A= (n.1732-41A=)
n.2972-41A=
c.*271-41A= (n.*271-41A=)
c.2734-41A= (n.2734-41A=)
c.2854-41A= (n.2854-41A=)
c.661-41A= (n.661-41A=)
c.*552-41A= (n.*552-41A=)
c.2965-41A= (n.2965-41A=)
c.3058-41A= (n.3058-41A=)
c.2944-41A= (n.2944-41A=)
c.2941-41A= (n.2941-41A=)
c.2794-41A= (n.2794-41A=)
c.1900-41A= (n.1900-41A=)
2g.38997080A=CA1246123966SOS1c.1732-42T= (n.1732-42T=)
n.2972-42T=
c.*271-42T= (n.*271-42T=)
c.2734-42T= (n.2734-42T=)
c.2854-42T= (n.2854-42T=)
c.661-42T= (n.661-42T=)
c.*552-42T= (n.*552-42T=)
c.2965-42T= (n.2965-42T=)
c.3058-42T= (n.3058-42T=)
c.2944-42T= (n.2944-42T=)
c.2941-42T= (n.2941-42T=)
c.2794-42T= (n.2794-42T=)
c.1900-42T= (n.1900-42T=)
2g.38997080A>CCA1624292SOS1c.1732-42T>G (n.1732-42T>G)
n.2972-42T>G
c.*271-42T>G (n.*271-42T>G)
c.2734-42T>G (n.2734-42T>G)
c.2854-42T>G (n.2854-42T>G)
c.661-42T>G (n.661-42T>G)
c.*552-42T>G (n.*552-42T>G)
c.2965-42T>G (n.2965-42T>G)
c.3058-42T>G (n.3058-42T>G)
c.2944-42T>G (n.2944-42T>G)
c.2941-42T>G (n.2941-42T>G)
c.2794-42T>G (n.2794-42T>G)
c.1900-42T>G (n.1900-42T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38997080A>GCA1624293SOS1c.1732-42T>C (n.1732-42T>C)
n.2972-42T>C
c.*271-42T>C (n.*271-42T>C)
c.2734-42T>C (n.2734-42T>C)
c.2854-42T>C (n.2854-42T>C)
c.661-42T>C (n.661-42T>C)
c.*552-42T>C (n.*552-42T>C)
c.2965-42T>C (n.2965-42T>C)
c.3058-42T>C (n.3058-42T>C)
c.2944-42T>C (n.2944-42T>C)
c.2941-42T>C (n.2941-42T>C)
c.2794-42T>C (n.2794-42T>C)
c.1900-42T>C (n.1900-42T>C)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched