Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38996981A= | CA1246123928 | SOS1 | c.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=) | |
2 | g.38996981A>C | CA346361417 | SOS1 | c.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) | |
2 | g.38996981A>G | CA261736 | SOS1 | c.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 |
2 | g.38996981A>T | CA346361418 | SOS1 | c.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) | |
2 | g.38996982A>C | CA346361419 | SOS1 | c.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) | |
2 | g.38996982A>G | CA425866305 | SOS1 | c.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=) | |
2 | g.38996982A>T | CA346361420 | SOS1 | c.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) | |
2 | g.38996983T>A | CA346361423 | SOS1 | c.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) | |
2 | g.38996983T>C | CA346361422 | SOS1 | c.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) | |
2 | g.38996983T>G | CA346361421 | SOS1 | c.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) | |
2 | g.38996984C>A | CA346361424 | SOS1 | c.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) | |
2 | g.38996984C>G | CA346361425 | SOS1 | c.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) | |
2 | g.38996984C>T | CA346361426 | SOS1 | c.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) | |
2 | g.38996985T>A | CA425866310 | SOS1 | c.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=) | |
2 | g.38996985T>C | CA425866311 | SOS1 | c.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=) | |
2 | g.38996985T>G | CA425866312 | SOS1 | c.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 |
2 | g.38996986G>A | CA346361427 | SOS1 | c.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 |
2 | g.38996986G>C | CA346361428 | SOS1 | c.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) | |
2 | g.38996986G= | CA1246123929 | SOS1 | c.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=) | |
2 | g.38996986G>T | CA346361429 | SOS1 | c.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) | |
2 | g.38996987T>A | CA346361430 | SOS1 | c.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) | |
2 | g.38996987T>C | CA346361431 | SOS1 | c.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) | |
2 | g.38996987T>G | CA346361432 | SOS1 | c.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) | |
2 | g.38996988A= | CA1246123930 | SOS1 | c.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=) | |
2 | g.38996988A>C | CA346361433 | SOS1 | c.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) | |
2 | g.38996988A>G | CA425866316 | SOS1 | c.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 |
2 | g.38996988A>T | CA346361434 | SOS1 | c.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) | |
2 | g.38996989A>C | CA346361436 | SOS1 | c.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) | |
2 | g.38996989A>G | CA346361437 | SOS1 | c.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) | |
2 | g.38996989A>T | CA346361435 | SOS1 | c.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) | |
2 | g.38996990A>C | CA346361440 | SOS1 | c.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) | |
2 | g.38996990A>G | CA346361438 | SOS1 | c.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) | |
2 | g.38996990A>T | CA346361439 | SOS1 | c.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) | |
2 | g.38996991T>A | CA346361441 | SOS1 | c.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) | |
2 | g.38996991T>C | CA425866318 | SOS1 | c.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=) | |
2 | g.38996991T>G | CA346361442 | SOS1 | c.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 |
2 | g.38996992T>A | CA346361443 | SOS1 | c.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) | |
2 | g.38996992T>C | CA346361444 | SOS1 | c.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 |
2 | g.38996992T>G | CA346361445 | SOS1 | c.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) | |
2 | g.38996993C>A | CA346361446 | SOS1 | c.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) | |
2 | g.38996993C>G | CA346361447 | SOS1 | c.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) | |
2 | g.38996993C>T | CA346361448 | SOS1 | c.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 |
2 | g.38996994C>A | CA346361449 | SOS1 | c.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 |
2 | g.38996994C= | CA1246123931 | SOS1 | c.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=) | |
2 | g.38996994C>G | CA346361450 | SOS1 | c.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) | |
2 | g.38996994C>T | CA425866323 | SOS1 | c.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 |
2 | g.38996995T>A | CA346361453 | SOS1 | c.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) | |
2 | g.38996995T>C | CA346361451 | SOS1 | c.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 |
2 | g.38996995T>G | CA346361452 | SOS1 | c.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 |
2 | g.38996995T= | CA1246123932 | SOS1 | c.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=) | |
2 | g.38996996T>A | CA1624279 | SOS1 | c.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 |
2 | g.38996996T>C | CA346361454 | SOS1 | c.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) | |
2 | g.38996996T>G | CA346361455 | SOS1 | c.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) | |
2 | g.38996996T= | CA1246123933 | SOS1 | c.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=) | |
2 | g.38996997C>A | CA346361456 | SOS1 | c.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) | |
2 | g.38996997C= | CA1246123934 | SOS1 | c.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=) | |
2 | g.38996997C>G | CA346361457 | SOS1 | c.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) | |
2 | g.38996997C>T | CA425866330 | SOS1 | c.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 |
2 | g.38996998T>A | CA346361458 | SOS1 | c.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) | |
2 | g.38996998T>C | CA346361459 | SOS1 | c.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) | |
2 | g.38996998T>G | CA346361460 | SOS1 | c.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) | |
2 | g.38996999C>A | CA346361461 | SOS1 | c.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) | |
2 | g.38996999C>G | CA346361462 | SOS1 | c.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) | |
2 | g.38996999C>T | CA346361463 | SOS1 | c.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) | |
2 | g.38997000C>A | CA346361465 | SOS1 | c.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) | |
2 | g.38997000C>G | CA346361466 | SOS1 | c.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 |
2 | g.38997000C>T | CA346361464 | SOS1 | c.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 |
2 | g.38997001A>C | CA346361467 | SOS1 | c.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) | |
2 | g.38997001A>G | CA346361468 | SOS1 | c.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 |
2 | g.38997001A>T | CA346361469 | SOS1 | c.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 |
2 | g.38997002T>A | CA346361470 | SOS1 | c.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) | |
2 | g.38997002T>C | CA45647357 | SOS1 | c.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 |
2 | g.38997002T>G | CA346361471 | SOS1 | c.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) | |
2 | g.38997002T= | CA1246123935 | SOS1 | c.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=) | |
2 | g.38997003G>A | CA425866337 | SOS1 | c.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 |
2 | g.38997003G>C | CA346361473 | SOS1 | c.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) | |
2 | g.38997003G>T | CA346361472 | SOS1 | c.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 |
2 | g.38997004C>A | CA346361474 | SOS1 | c.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) | |
2 | g.38997004C= | CA1246123936 | SOS1 | c.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=) | |
2 | g.38997004C>G | CA346361475 | SOS1 | c.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) | |
2 | g.38997004C>T | CA45647365 | SOS1 | c.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 |
2 | g.38997005T>A | CA297222 | SOS1 | c.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 |
2 | g.38997005T>C | CA1624280 | SOS1 | c.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 |
2 | g.38997005T>G | CA346361476 | SOS1 | c.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) | |
2 | g.38997005T= | CA1246123937 | SOS1 | c.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=) | |
2 | g.38997006A= | CA1246123938 | SOS1 | c.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=) | |
2 | g.38997006A>C | CA346361477 | SOS1 | c.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) | |
2 | g.38997006A>G | CA136126 | SOS1 | c.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 |
2 | g.38997006A>T | CA346361478 | SOS1 | c.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) | |
2 | g.38997007T>A | CA346361479 | SOS1 | c.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) | |
2 | g.38997007T>C | CA1624281 | SOS1 | c.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 |
2 | g.38997007T>G | CA346361480 | SOS1 | c.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) | |
2 | g.38997007T= | CA1246123939 | SOS1 | c.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=) | |
2 | g.38997008T>A | CA346361481 | SOS1 | c.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) | |
2 | g.38997008T>C | CA346361482 | SOS1 | c.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 |
2 | g.38997008T>G | CA346361483 | SOS1 | c.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) | |
2 | g.38997009T>A | CA425866344 | SOS1 | c.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=) | |
2 | g.38997009T>C | CA425866345 | SOS1 | c.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=) | |
2 | g.38997009T>G | CA425866343 | SOS1 | c.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 |
2 | g.38997010C>A | CA346361484 | SOS1 | c.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) | |
2 | g.38997010C>G | CA346361485 | SOS1 | c.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) | |
2 | g.38997010C>T | CA346361486 | SOS1 | c.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 |
2 | g.38997012del | CA2658713215 | SOS1 | c.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 |
2 | g.38997011C>A | CA346361487 | SOS1 | c.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 |
2 | g.38997011C>G | CA346361488 | SOS1 | c.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) | |
2 | g.38997011C>T | CA346361489 | SOS1 | c.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) | |
2 | g.38997012C>A | CA346361491 | SOS1 | c.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) | |
2 | g.38997012C>G | CA346361492 | SOS1 | c.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) | |
2 | g.38997012C>T | CA346361490 | SOS1 | c.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) | |
2 | g.38997013A= | CA1246123940 | SOS1 | c.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=) | |
2 | g.38997013A>C | CA346361495 | SOS1 | c.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) | |
2 | g.38997013A>G | CA346361493 | SOS1 | c.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 |
2 | g.38997013A>T | CA346361494 | SOS1 | c.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) | |
2 | g.38997014T>A | CA346361496 | SOS1 | c.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) | |
2 | g.38997014T>C | CA346361497 | SOS1 | c.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) | |
2 | g.38997014T>G | CA346361498 | SOS1 | c.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) | |
2 | g.38997015C>A | CA425866359 | SOS1 | c.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 |
2 | g.38997015C= | CA1246123941 | SOS1 | c.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=) | |
2 | g.38997015C>G | CA425866360 | SOS1 | c.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=) | |
2 | g.38997015C>T | CA136123 | SOS1 | c.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 |
2 | g.38997016G>A | CA1624282 | SOS1 | c.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 |
2 | g.38997016G>C | CA346361499 | SOS1 | c.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) | |
2 | g.38997016G= | CA1246123942 | SOS1 | c.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=) | |
2 | g.38997016G>T | CA346361500 | SOS1 | c.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 |
2 | g.38997017G>A | CA346361501 | SOS1 | c.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) | |
2 | g.38997017G>C | CA346361502 | SOS1 | c.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 |
2 | g.38997017G>T | CA346361503 | SOS1 | c.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 |
2 | g.38997018A>C | CA346361504 | SOS1 | c.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) | |
2 | g.38997018A>G | CA425866365 | SOS1 | c.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=) | |
2 | g.38997018A>T | CA346361505 | SOS1 | c.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 |
2 | g.38997019T>A | CA346361508 | SOS1 | c.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) | |
2 | g.38997019T>C | CA346361506 | SOS1 | c.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) | |
2 | g.38997019T>G | CA346361507 | SOS1 | c.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) | |
2 | g.38997024_38997031del | CA645529318 | SOS1 | c.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 |
2 | g.38997020T>A | CA346361509 | SOS1 | c.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) | |
2 | g.38997020T>C | CA346361510 | SOS1 | c.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) | |
2 | g.38997020T>G | CA346361511 | SOS1 | c.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) | |
2 | g.38997021C>A | CA346361512 | SOS1 | c.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) | |
2 | g.38997021C>G | CA346361513 | SOS1 | c.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) | |
2 | g.38997021C>T | CA425866371 | SOS1 | c.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=) | |
2 | g.38997022A>C | CA346361514 | SOS1 | c.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 |
2 | g.38997022A>G | CA346361515 | SOS1 | c.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 |
2 | g.38997022A>T | CA346361516 | SOS1 | c.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) | |
2 | g.38997023A>C | CA346361517 | SOS1 | c.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 |
2 | g.38997023A>G | CA425866375 | SOS1 | c.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 |
2 | g.38997023A>T | CA346361518 | SOS1 | c.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 |
2 | g.38997024G>A | CA425866376 | SOS1 | c.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=) | |
2 | g.38997024G>C | CA1624283 | SOS1 | c.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 |
2 | g.38997024G= | CA1246123943 | SOS1 | c.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=) | |
2 | g.38997024G>T | CA346361519 | SOS1 | c.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 |
2 | g.38997025T>A | CA346361520 | SOS1 | c.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) | |
2 | g.38997025T>C | CA346361522 | SOS1 | c.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 |
2 | g.38997025T>G | CA346361521 | SOS1 | c.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) | |
2 | g.38997026T>A | CA346361523 | SOS1 | c.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) | |
2 | g.38997026T>C | CA346361524 | SOS1 | c.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) | |
2 | g.38997026T>G | CA346361525 | SOS1 | c.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) | |
2 | g.38997027T>A | CA346361526 | SOS1 | c.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) | |
2 | g.38997027T>C | CA425866381 | SOS1 | c.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 |
2 | g.38997027T>G | CA346361527 | SOS1 | c.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) | |
2 | g.38997028T>A | CA346361528 | SOS1 | c.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) | |
2 | g.38997028T>C | CA346361529 | SOS1 | c.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 |
2 | g.38997028T>G | CA346361530 | SOS1 | c.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) | |
2 | g.38997029C>A | CA346361531 | SOS1 | c.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) | |
2 | g.38997029C= | CA1246123944 | SOS1 | c.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=) | |
2 | g.38997029C>G | CA346361532 | SOS1 | c.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) | |
2 | g.38997029C>T | CA346361533 | SOS1 | c.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 |
2 | g.38997030A= | CA1246123945 | SOS1 | c.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=) | |
2 | g.38997030A>C | CA1624284 | SOS1 | c.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 |
2 | g.38997030A>G | CA425866385 | SOS1 | c.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 |
2 | g.38997030A>T | CA346361534 | SOS1 | c.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) | |
2 | g.38997032del | CA2576945163 | SOS1 | c.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) | |
2 | g.38997031A>C | CA346361535 | SOS1 | c.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) | |
2 | g.38997031A>G | CA346361537 | SOS1 | c.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 |
2 | g.38997031A>T | CA346361536 | SOS1 | c.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) | |
2 | g.38997032A>C | CA346361538 | SOS1 | c.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) | |
2 | g.38997032A>G | CA346361539 | SOS1 | c.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) | |
2 | g.38997032A>T | CA346361540 | SOS1 | c.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) | |
2 | g.38997033G>A | CA425866390 | SOS1 | c.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 |
2 | g.38997033G>C | CA346361541 | SOS1 | c.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) | |
2 | g.38997033G>T | CA346361542 | SOS1 | c.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 |
2 | g.38997034A>C | CA346361543 | SOS1 | c.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) | |
2 | g.38997034A>G | CA346361544 | SOS1 | c.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) | |
2 | g.38997034A>T | CA346361545 | SOS1 | c.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) | |
2 | g.38997035A>C | CA346361546 | SOS1 | c.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) | |
2 | g.38997035A>G | CA346361547 | SOS1 | c.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 |
2 | g.38997035A>T | CA346361548 | SOS1 | c.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) | |
2 | g.38997036C>A | CA346361550 | SOS1 | c.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 |
2 | g.38997036C>G | CA346361549 | SOS1 | c.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) | |
2 | g.38997036C>T | CA425866394 | SOS1 | c.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 |
2 | g.38997037C>A | CA346361551 | SOS1 | c.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) | |
2 | g.38997037C= | CA1246123946 | SOS1 | c.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=) | |
2 | g.38997037C>G | CA1624285 | SOS1 | c.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 |
2 | g.38997037C>T | CA136120 | SOS1 | c.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 |
2 | g.38997038T>A | CA346361552 | SOS1 | c.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) | |
2 | g.38997038T>C | CA346361553 | SOS1 | c.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 |
2 | g.38997038T>G | CA425866399 | SOS1 | c.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 |
2 | g.38997038T= | CA1246123947 | SOS1 | c.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=) | |
2 | g.38997039C>A | CA346361554 | SOS1 | c.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) | |
2 | g.38997039C>G | CA346361555 | SOS1 | c.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) | |
2 | g.38997039C>T | CA346361556 | SOS1 | c.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) | |
2 | g.38997040T>A | CA346361557 | SOS1 | c.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 |
2 | g.38997040T>C | CA346361558 | SOS1 | c.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 |
2 | g.38997040T>G | CA346361559 | SOS1 | c.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) | |
2 | g.38997041A>G | CA2658713268 | SOS1 | c.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 |
2 | g.38997044del | CA2749574100 | SOS1 | c.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) | |
2 | g.38997041_38997045delinsAAAAT | CA1246123948 | SOS1 | c.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) | |
2 | g.38997044_38997054del | CA2749574101 | SOS1 | c.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) | |
2 | g.38997042A>C | CA2580066436 | SOS1 | c.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 |
2 | g.38997046_38997049del | CA1624286 | SOS1 | c.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 |
2 | g.38997043A>G | CA2576945164 | SOS1 | c.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 |
2 | g.38997044A>G | CA2658713276 | SOS1 | c.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 |
2 | g.38997045T>A | CA2658713278 | SOS1 | c.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 |
2 | g.38997047A>C | CA2576945165 | SOS1 | c.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) | |
2 | g.38997047A>G | CA2658713280 | SOS1 | c.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 |
2 | g.38997049del | CA2658713285 | SOS1 | c.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 |
2 | g.38997049T>A | CA2658713287 | SOS1 | c.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 |
2 | g.38997049T>C | CA532237853 | SOS1 | c.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 |
2 | g.38997049T>G | CA2499215935 | SOS1 | c.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 |
2 | g.38997049T= | CA1246123949 | SOS1 | c.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=) | |
2 | g.38997050G>A | CA2658713289 | SOS1 | c.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 |
2 | g.38997050G>T | CA2658713290 | SOS1 | c.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 |
2 | g.38997051C>A | CA2523581676 | SOS1 | c.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 |
2 | g.38997051C>T | CA2658713292 | SOS1 | c.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 |
2 | g.38997052A>C | CA2658713295 | SOS1 | c.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 |
2 | g.38997052A>G | CA2658713294 | SOS1 | c.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 |
2 | g.38997055G>A | CA2658713298 | SOS1 | c.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 |
2 | g.38997055G= | CA1246123950 | SOS1 | c.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=) | |
2 | g.38997055G>T | CA45647403 | SOS1 | c.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 |
2 | g.38997055_38997056delinsGA | CA1246123951 | SOS1 | c.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) | |
2 | g.38997056A>G | CA2658713304 | SOS1 | c.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 |
2 | g.38997061dup | CA532237854 | SOS1 | c.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 |
2 | g.38997061del | CA1246123952 | SOS1 | c.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 |
2 | g.38997057A= | CA1246123953 | SOS1 | c.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=) | |
2 | g.38997066_38997081dup | CA1624287 | SOS1 | c.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 |
2 | g.38997059A= | CA1246123954 | SOS1 | c.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=) | |
2 | g.38997059A>G | CA1624288 | SOS1 | c.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 |
2 | g.38997060_38997063delinsAATT | CA1246123955 | SOS1 | c.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) | |
2 | g.38997061_38997062insACCAAACACACCCAACACA | CA2749574102 | SOS1 | c.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) | |
2 | g.38997061_38997062insCCCAAACACACCCAACACA | CA2749574103 | SOS1 | c.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) | |
2 | g.38997065_38997067del | CA768532178 | SOS1 | c.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 |
2 | g.38997062T>G | CA1624289 | SOS1 | c.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 |
2 | g.38997062T= | CA1246123956 | SOS1 | c.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=) | |
2 | g.38997063T>C | CA1246123958 | SOS1 | c.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 |
2 | g.38997063T= | CA1246123957 | SOS1 | c.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=) | |
2 | g.38997067_38997072del | CA2658713313 | SOS1 | c.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 |
2 | g.38997064del | CA2658713315 | SOS1 | c.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 |
2 | g.38997065T>C | CA1246123959 | SOS1 | c.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 |
2 | g.38997065T= | CA1246123960 | SOS1 | c.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=) | |
2 | g.38997065_38997068delinsTTAA | CA1246123961 | SOS1 | c.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) | |
2 | g.38997065_38997066insAGTC | CA2749574104 | SOS1 | c.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) | |
2 | g.38997066T>A | CA2576945166 | SOS1 | c.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 |
2 | g.38997068_38997070del | CA1624290 | SOS1 | c.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 |
2 | g.38997067A= | CA1246123962 | SOS1 | c.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=) | |
2 | g.38997067A>T | CA532237855 | SOS1 | c.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 |
2 | g.38997068A>G | CA2658713320 | SOS1 | c.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 |
2 | g.38997069T>C | CA2658713321 | SOS1 | c.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 |
2 | g.38997071T>A | CA768532185 | SOS1 | c.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 |
2 | g.38997071T= | CA1246123963 | SOS1 | c.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=) | |
2 | g.38997072T>G | CA532237856 | SOS1 | c.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 |
2 | g.38997072T= | CA1246123964 | SOS1 | c.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=) | |
2 | g.38997073C>A | CA2658713326 | SOS1 | c.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 |
2 | g.38997074A>C | CA2576945167 | SOS1 | c.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) | |
2 | g.38997076A>G | CA2576945168 | SOS1 | c.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) | |
2 | g.38997076_38997077insCTG | CA2658713327 | SOS1 | c.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 |
2 | g.38997077A>G | CA2658713329 | SOS1 | c.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 |
2 | g.38997079T>C | CA2658713330 | SOS1 | c.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 |
2 | g.38997079T>G | CA1624291 | SOS1 | c.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 |
2 | g.38997079T= | CA1246123965 | SOS1 | c.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=) | |
2 | g.38997080A= | CA1246123966 | SOS1 | c.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=) | |
2 | g.38997080A>C | CA1624292 | SOS1 | c.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 |
2 | g.38997080A>G | CA1624293 | SOS1 | c.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 |