Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.50796406G>A | CA495466431 | CYLD,CYLD-AS2 | c.2769G>A (p.Leu923=) c.2760G>A (p.Leu920=) c.177+1936G>A c.2214G>A (p.Leu738=) c.2730G>A (p.Leu910=) c.2677+1978G>A (n.2677+1978G>A) n.3053G>A n.2450+5717C>T n.2887G>A n.4187+5717C>T c.2094G>A (p.Leu698=) n.2858G>A | dbSNP |
16 | g.50796406G>C | CA495466429 | CYLD,CYLD-AS2 | c.2769G>C (p.Leu923=) c.2760G>C (p.Leu920=) c.177+1936G>C c.2214G>C (p.Leu738=) c.2730G>C (p.Leu910=) c.2677+1978G>C (n.2677+1978G>C) n.3053G>C n.2450+5717C>G n.2887G>C n.4187+5717C>G c.2094G>C (p.Leu698=) n.2858G>C | gnomAD v4 |
16 | g.50796406G= | CA2221882494 | CYLD,CYLD-AS2 | c.2769G= (p.Leu923=) c.2760G= (p.Leu920=) c.177+1936G= c.2214G= (p.Leu738=) c.2730G= (p.Leu910=) c.2677+1978G= (n.2677+1978G=) n.3053G= n.2450+5717C= n.2887G= n.4187+5717C= c.2094G= (p.Leu698=) n.2858G= | |
16 | g.50796406G>T | CA8052718 | CYLD,CYLD-AS2 | c.2769G>T (p.Leu923=) c.2760G>T (p.Leu920=) c.177+1936G>T c.2214G>T (p.Leu738=) c.2730G>T (p.Leu910=) c.2677+1978G>T (n.2677+1978G>T) n.3053G>T n.2450+5717C>A n.2887G>T n.4187+5717C>A c.2094G>T (p.Leu698=) n.2858G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50796407C>A | CA395885901 | CYLD,CYLD-AS2 | c.2770C>A (p.His924Asn) c.2761C>A (p.His921Asn) c.177+1937C>A c.2215C>A (p.His739Asn) c.2731C>A (p.His911Asn) c.2677+1979C>A (n.2677+1979C>A) n.3054C>A n.2450+5716G>T n.2888C>A n.4187+5716G>T c.2095C>A (p.His699Asn) n.2859C>A | dbSNP |
16 | g.50796407C= | CA2221882499 | CYLD,CYLD-AS2 | c.2770C= (p.His924=) c.2761C= (p.His921=) c.177+1937C= c.2215C= (p.His739=) c.2731C= (p.His911=) c.2677+1979C= (n.2677+1979C=) n.3054C= n.2450+5716G= n.2888C= n.4187+5716G= c.2095C= (p.His699=) n.2859C= | |
16 | g.50796407C>G | CA395885899 | CYLD,CYLD-AS2 | c.2770C>G (p.His924Asp) c.2761C>G (p.His921Asp) c.177+1937C>G c.2215C>G (p.His739Asp) c.2731C>G (p.His911Asp) c.2677+1979C>G (n.2677+1979C>G) n.3054C>G n.2450+5716G>C n.2888C>G n.4187+5716G>C c.2095C>G (p.His699Asp) n.2859C>G | gnomAD v4 |
16 | g.50796407C>T | CA395885903 | CYLD,CYLD-AS2 | c.2770C>T (p.His924Tyr) c.2761C>T (p.His921Tyr) c.177+1937C>T c.2215C>T (p.His739Tyr) c.2731C>T (p.His911Tyr) c.2677+1979C>T (n.2677+1979C>T) n.3054C>T n.2450+5716G>A n.2888C>T n.4187+5716G>A c.2095C>T (p.His699Tyr) n.2859C>T | |
16 | g.50796408A>C | CA395885906 | CYLD,CYLD-AS2 | c.2771A>C (p.His924Pro) c.2762A>C (p.His921Pro) c.177+1938A>C c.2216A>C (p.His739Pro) c.2732A>C (p.His911Pro) c.2677+1980A>C (n.2677+1980A>C) n.3055A>C n.2450+5715T>G n.2889A>C n.4187+5715T>G c.2096A>C (p.His699Pro) n.2860A>C | |
16 | g.50796408A>G | CA395885908 | CYLD,CYLD-AS2 | c.2771A>G (p.His924Arg) c.2762A>G (p.His921Arg) c.177+1938A>G c.2216A>G (p.His739Arg) c.2732A>G (p.His911Arg) c.2677+1980A>G (n.2677+1980A>G) n.3055A>G n.2450+5715T>C n.2889A>G n.4187+5715T>C c.2096A>G (p.His699Arg) n.2860A>G | |
16 | g.50796408A>T | CA395885910 | CYLD,CYLD-AS2 | c.2771A>T (p.His924Leu) c.2762A>T (p.His921Leu) c.177+1938A>T c.2216A>T (p.His739Leu) c.2732A>T (p.His911Leu) c.2677+1980A>T (n.2677+1980A>T) n.3055A>T n.2450+5715T>A n.2889A>T n.4187+5715T>A c.2096A>T (p.His699Leu) n.2860A>T | |
16 | g.50796409T>A | CA395885913 | CYLD,CYLD-AS2 | c.2772T>A (p.His924Gln) c.2763T>A (p.His921Gln) c.177+1939T>A c.2217T>A (p.His739Gln) c.2733T>A (p.His911Gln) c.2677+1981T>A (n.2677+1981T>A) n.3056T>A n.2450+5714A>T n.2890T>A n.4187+5714A>T c.2097T>A (p.His699Gln) n.2861T>A | |
16 | g.50796409T>C | CA495466473 | CYLD,CYLD-AS2 | c.2772T>C (p.His924=) c.2763T>C (p.His921=) c.177+1939T>C c.2217T>C (p.His739=) c.2733T>C (p.His911=) c.2677+1981T>C (n.2677+1981T>C) n.3056T>C n.2450+5714A>G n.2890T>C n.4187+5714A>G c.2097T>C (p.His699=) n.2861T>C | |
16 | g.50796409T>G | CA395885915 | CYLD,CYLD-AS2 | c.2772T>G (p.His924Gln) c.2763T>G (p.His921Gln) c.177+1939T>G c.2217T>G (p.His739Gln) c.2733T>G (p.His911Gln) c.2677+1981T>G (n.2677+1981T>G) n.3056T>G n.2450+5714A>C n.2890T>G n.4187+5714A>C c.2097T>G (p.His699Gln) n.2861T>G | |
16 | g.50796410T>A | CA395885919 | CYLD,CYLD-AS2 | c.2773T>A (p.Ser925Thr) c.2764T>A (p.Ser922Thr) c.177+1940T>A c.2218T>A (p.Ser740Thr) c.2734T>A (p.Ser912Thr) c.2677+1982T>A (n.2677+1982T>A) n.3057T>A n.2450+5713A>T n.2891T>A n.4187+5713A>T c.2098T>A (p.Ser700Thr) n.2862T>A | |
16 | g.50796410T>C | CA395885921 | CYLD,CYLD-AS2 | c.2773T>C (p.Ser925Pro) c.2764T>C (p.Ser922Pro) c.177+1940T>C c.2218T>C (p.Ser740Pro) c.2734T>C (p.Ser912Pro) c.2677+1982T>C (n.2677+1982T>C) n.3057T>C n.2450+5713A>G n.2891T>C n.4187+5713A>G c.2098T>C (p.Ser700Pro) n.2862T>C | |
16 | g.50796410T>G | CA395885924 | CYLD,CYLD-AS2 | c.2773T>G (p.Ser925Ala) c.2764T>G (p.Ser922Ala) c.177+1940T>G c.2218T>G (p.Ser740Ala) c.2734T>G (p.Ser912Ala) c.2677+1982T>G (n.2677+1982T>G) n.3057T>G n.2450+5713A>C n.2891T>G n.4187+5713A>C c.2098T>G (p.Ser700Ala) n.2862T>G | |
16 | g.50796411C>A | CA395885927 | CYLD,CYLD-AS2 | c.2774C>A (p.Ser925Tyr) c.2765C>A (p.Ser922Tyr) c.177+1941C>A c.2219C>A (p.Ser740Tyr) c.2735C>A (p.Ser912Tyr) c.2677+1983C>A (n.2677+1983C>A) n.3058C>A n.2450+5712G>T n.2892C>A n.4187+5712G>T c.2099C>A (p.Ser700Tyr) n.2863C>A | COSMIC |
16 | g.50796411C>G | CA395885928 | CYLD,CYLD-AS2 | c.2774C>G (p.Ser925Cys) c.2765C>G (p.Ser922Cys) c.177+1941C>G c.2219C>G (p.Ser740Cys) c.2735C>G (p.Ser912Cys) c.2677+1983C>G (n.2677+1983C>G) n.3058C>G n.2450+5712G>C n.2892C>G n.4187+5712G>C c.2099C>G (p.Ser700Cys) n.2863C>G | |
16 | g.50796411C>T | CA395885930 | CYLD,CYLD-AS2 | c.2774C>T (p.Ser925Phe) c.2765C>T (p.Ser922Phe) c.177+1941C>T c.2219C>T (p.Ser740Phe) c.2735C>T (p.Ser912Phe) c.2677+1983C>T (n.2677+1983C>T) n.3058C>T n.2450+5712G>A n.2892C>T n.4187+5712G>A c.2099C>T (p.Ser700Phe) n.2863C>T | |
16 | g.50796412C>A | CA495466493 | CYLD,CYLD-AS2 | c.2775C>A (p.Ser925=) c.2766C>A (p.Ser922=) c.177+1942C>A c.2220C>A (p.Ser740=) c.2736C>A (p.Ser912=) c.2677+1984C>A (n.2677+1984C>A) n.3059C>A n.2450+5711G>T n.2893C>A n.4187+5711G>T c.2100C>A (p.Ser700=) n.2864C>A | dbSNP |
16 | g.50796412C= | CA2221882505 | CYLD,CYLD-AS2 | c.2775C= (p.Ser925=) c.2766C= (p.Ser922=) c.177+1942C= c.2220C= (p.Ser740=) c.2736C= (p.Ser912=) c.2677+1984C= (n.2677+1984C=) n.3059C= n.2450+5711G= n.2893C= n.4187+5711G= c.2100C= (p.Ser700=) n.2864C= | |
16 | g.50796412C>G | CA495466497 | CYLD,CYLD-AS2 | c.2775C>G (p.Ser925=) c.2766C>G (p.Ser922=) c.177+1942C>G c.2220C>G (p.Ser740=) c.2736C>G (p.Ser912=) c.2677+1984C>G (n.2677+1984C>G) n.3059C>G n.2450+5711G>C n.2893C>G n.4187+5711G>C c.2100C>G (p.Ser700=) n.2864C>G | |
16 | g.50796412C>T | CA495466499 | CYLD,CYLD-AS2 | c.2775C>T (p.Ser925=) c.2766C>T (p.Ser922=) c.177+1942C>T c.2220C>T (p.Ser740=) c.2736C>T (p.Ser912=) c.2677+1984C>T (n.2677+1984C>T) n.3059C>T n.2450+5711G>A n.2893C>T n.4187+5711G>A c.2100C>T (p.Ser700=) n.2864C>T | dbSNP |
16 | g.50796413T>A | CA395885933 | CYLD,CYLD-AS2 | c.2776T>A (p.Leu926Met) c.2767T>A (p.Leu923Met) c.177+1943T>A c.2221T>A (p.Leu741Met) c.2737T>A (p.Leu913Met) c.2677+1985T>A (n.2677+1985T>A) n.3060T>A n.2450+5710A>T n.2894T>A n.4187+5710A>T c.2101T>A (p.Leu701Met) n.2865T>A | |
16 | g.50796413T>C | CA281280119 | CYLD,CYLD-AS2 | c.2776T>C (p.Leu926=) c.2767T>C (p.Leu923=) c.177+1943T>C c.2221T>C (p.Leu741=) c.2737T>C (p.Leu913=) c.2677+1985T>C (n.2677+1985T>C) n.3060T>C n.2450+5710A>G n.2894T>C n.4187+5710A>G c.2101T>C (p.Leu701=) n.2865T>C | dbSNP gnomAD v4 |
16 | g.50796413T>G | CA395885935 | CYLD,CYLD-AS2 | c.2776T>G (p.Leu926Val) c.2767T>G (p.Leu923Val) c.177+1943T>G c.2221T>G (p.Leu741Val) c.2737T>G (p.Leu913Val) c.2677+1985T>G (n.2677+1985T>G) n.3060T>G n.2450+5710A>C n.2894T>G n.4187+5710A>C c.2101T>G (p.Leu701Val) n.2865T>G | |
16 | g.50796413T= | CA2221882510 | CYLD,CYLD-AS2 | c.2776T= (p.Leu926=) c.2767T= (p.Leu923=) c.177+1943T= c.2221T= (p.Leu741=) c.2737T= (p.Leu913=) c.2677+1985T= (n.2677+1985T=) n.3060T= n.2450+5710A= n.2894T= n.4187+5710A= c.2101T= (p.Leu701=) n.2865T= | |
16 | g.50796414T>A | CA395885942 | CYLD,CYLD-AS2 | c.2777T>A (p.Leu926Ter) c.2768T>A (p.Leu923Ter) c.177+1944T>A c.2222T>A (p.Leu741Ter) c.2738T>A (p.Leu913Ter) c.2677+1986T>A (n.2677+1986T>A) n.3061T>A n.2450+5709A>T n.2895T>A n.4187+5709A>T c.2102T>A (p.Leu701Ter) n.2866T>A | |
16 | g.50796414T>C | CA395885940 | CYLD,CYLD-AS2 | c.2777T>C (p.Leu926Ser) c.2768T>C (p.Leu923Ser) c.177+1944T>C c.2222T>C (p.Leu741Ser) c.2738T>C (p.Leu913Ser) c.2677+1986T>C (n.2677+1986T>C) n.3061T>C n.2450+5709A>G n.2895T>C n.4187+5709A>G c.2102T>C (p.Leu701Ser) n.2866T>C | |
16 | g.50796414T>G | CA395885938 | CYLD,CYLD-AS2 | c.2777T>G (p.Leu926Trp) c.2768T>G (p.Leu923Trp) c.177+1944T>G c.2222T>G (p.Leu741Trp) c.2738T>G (p.Leu913Trp) c.2677+1986T>G (n.2677+1986T>G) n.3061T>G n.2450+5709A>C n.2895T>G n.4187+5709A>C c.2102T>G (p.Leu701Trp) n.2866T>G | |
16 | g.50796415G>A | CA8052720 | CYLD,CYLD-AS2 | c.2778G>A (p.Leu926=) c.2769G>A (p.Leu923=) c.177+1945G>A c.2223G>A (p.Leu741=) c.2739G>A (p.Leu913=) c.2677+1987G>A (n.2677+1987G>A) n.3062G>A n.2450+5708C>T n.2896G>A n.4187+5708C>T c.2103G>A (p.Leu701=) n.2867G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50796415G>C | CA8052719 | CYLD,CYLD-AS2 | c.2778G>C (p.Leu926Phe) c.2769G>C (p.Leu923Phe) c.177+1945G>C c.2223G>C (p.Leu741Phe) c.2739G>C (p.Leu913Phe) c.2677+1987G>C (n.2677+1987G>C) n.3062G>C n.2450+5708C>G n.2896G>C n.4187+5708C>G c.2103G>C (p.Leu701Phe) n.2867G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50796415G= | CA2221882514 | CYLD,CYLD-AS2 | c.2778G= (p.Leu926=) c.2769G= (p.Leu923=) c.177+1945G= c.2223G= (p.Leu741=) c.2739G= (p.Leu913=) c.2677+1987G= (n.2677+1987G=) n.3062G= n.2450+5708C= n.2896G= n.4187+5708C= c.2103G= (p.Leu701=) n.2867G= | |
16 | g.50796415G>T | CA395885949 | CYLD,CYLD-AS2 | c.2778G>T (p.Leu926Phe) c.2769G>T (p.Leu923Phe) c.177+1945G>T c.2223G>T (p.Leu741Phe) c.2739G>T (p.Leu913Phe) c.2677+1987G>T (n.2677+1987G>T) n.3062G>T n.2450+5708C>A n.2896G>T n.4187+5708C>A c.2103G>T (p.Leu701Phe) n.2867G>T | |
16 | g.50796416G>A | CA395885953 | CYLD,CYLD-AS2 | c.2779G>A (p.Asp927Asn) c.2770G>A (p.Asp924Asn) c.177+1946G>A c.2224G>A (p.Asp742Asn) c.2740G>A (p.Asp914Asn) c.2677+1988G>A (n.2677+1988G>A) n.3063G>A n.2450+5707C>T n.2897G>A n.4187+5707C>T c.2104G>A (p.Asp702Asn) n.2868G>A | |
16 | g.50796416G>C | CA395885955 | CYLD,CYLD-AS2 | c.2779G>C (p.Asp927His) c.2770G>C (p.Asp924His) c.177+1946G>C c.2224G>C (p.Asp742His) c.2740G>C (p.Asp914His) c.2677+1988G>C (n.2677+1988G>C) n.3063G>C n.2450+5707C>G n.2897G>C n.4187+5707C>G c.2104G>C (p.Asp702His) n.2868G>C | |
16 | g.50796416G>T | CA395885957 | CYLD,CYLD-AS2 | c.2779G>T (p.Asp927Tyr) c.2770G>T (p.Asp924Tyr) c.177+1946G>T c.2224G>T (p.Asp742Tyr) c.2740G>T (p.Asp914Tyr) c.2677+1988G>T (n.2677+1988G>T) n.3063G>T n.2450+5707C>A n.2897G>T n.4187+5707C>A c.2104G>T (p.Asp702Tyr) n.2868G>T | |
16 | g.50796417A>C | CA395885961 | CYLD,CYLD-AS2 | c.2780A>C (p.Asp927Ala) c.2771A>C (p.Asp924Ala) c.177+1947A>C c.2225A>C (p.Asp742Ala) c.2741A>C (p.Asp914Ala) c.2677+1989A>C (n.2677+1989A>C) n.3064A>C n.2450+5706T>G n.2898A>C n.4187+5706T>G c.2105A>C (p.Asp702Ala) n.2869A>C | |
16 | g.50796417A>G | CA395885963 | CYLD,CYLD-AS2 | c.2780A>G (p.Asp927Gly) c.2771A>G (p.Asp924Gly) c.177+1947A>G c.2225A>G (p.Asp742Gly) c.2741A>G (p.Asp914Gly) c.2677+1989A>G (n.2677+1989A>G) n.3064A>G n.2450+5706T>C n.2898A>G n.4187+5706T>C c.2105A>G (p.Asp702Gly) n.2869A>G | gnomAD v4 |
16 | g.50796417A>T | CA395885966 | CYLD,CYLD-AS2 | c.2780A>T (p.Asp927Val) c.2771A>T (p.Asp924Val) c.177+1947A>T c.2225A>T (p.Asp742Val) c.2741A>T (p.Asp914Val) c.2677+1989A>T (n.2677+1989A>T) n.3064A>T n.2450+5706T>A n.2898A>T n.4187+5706T>A c.2105A>T (p.Asp702Val) n.2869A>T | gnomAD v4 |
16 | g.50796417_50796418insTT | CA2830557535 | CYLD,CYLD-AS2 | c.2780_2781insTT (p.Arg929ProfsTer25) c.2771_2772insTT (p.Arg926ProfsTer25) c.177+1947_177+1948insTT c.2225_2226insTT (p.Arg744ProfsTer25) c.2741_2742insTT (p.Arg916ProfsTer25) c.2677+1989_2677+1990insTT (n.2677+1989_2677+1990insTT) n.3064_3065insTT n.2450+5705_2450+5706insAA n.2898_2899insTT n.4187+5705_4187+5706insAA c.2105_2106insTT (p.Arg704ProfsTer25) n.2869_2870insTT | |
16 | g.50796418C>A | CA395885969 | CYLD,CYLD-AS2 | c.2781C>A (p.Asp927Glu) c.2772C>A (p.Asp924Glu) c.177+1948C>A c.2226C>A (p.Asp742Glu) c.2742C>A (p.Asp914Glu) c.2677+1990C>A (n.2677+1990C>A) n.3065C>A n.2450+5705G>T n.2899C>A n.4187+5705G>T c.2106C>A (p.Asp702Glu) n.2870C>A | dbSNP COSMIC COSMIC |
16 | g.50796418C>G | CA395885971 | CYLD,CYLD-AS2 | c.2781C>G (p.Asp927Glu) c.2772C>G (p.Asp924Glu) c.177+1948C>G c.2226C>G (p.Asp742Glu) c.2742C>G (p.Asp914Glu) c.2677+1990C>G (n.2677+1990C>G) n.3065C>G n.2450+5705G>C n.2899C>G n.4187+5705G>C c.2106C>G (p.Asp702Glu) n.2870C>G | |
16 | g.50796418C>T | CA495466543 | CYLD,CYLD-AS2 | c.2781C>T (p.Asp927=) c.2772C>T (p.Asp924=) c.177+1948C>T c.2226C>T (p.Asp742=) c.2742C>T (p.Asp914=) c.2677+1990C>T (n.2677+1990C>T) n.3065C>T n.2450+5705G>A n.2899C>T n.4187+5705G>A c.2106C>T (p.Asp702=) n.2870C>T | |
16 | g.50796419T>A | CA395885974 | CYLD,CYLD-AS2 | c.2782T>A (p.Ser928Thr) c.2773T>A (p.Ser925Thr) c.177+1949T>A c.2227T>A (p.Ser743Thr) c.2743T>A (p.Ser915Thr) c.2677+1991T>A (n.2677+1991T>A) n.3066T>A n.2450+5704A>T n.2900T>A n.4187+5704A>T c.2107T>A (p.Ser703Thr) n.2871T>A | |
16 | g.50796419T>C | CA395885976 | CYLD,CYLD-AS2 | c.2782T>C (p.Ser928Pro) c.2773T>C (p.Ser925Pro) c.177+1949T>C c.2227T>C (p.Ser743Pro) c.2743T>C (p.Ser915Pro) c.2677+1991T>C (n.2677+1991T>C) n.3066T>C n.2450+5704A>G n.2900T>C n.4187+5704A>G c.2107T>C (p.Ser703Pro) n.2871T>C | |
16 | g.50796419T>G | CA395885978 | CYLD,CYLD-AS2 | c.2782T>G (p.Ser928Ala) c.2773T>G (p.Ser925Ala) c.177+1949T>G c.2227T>G (p.Ser743Ala) c.2743T>G (p.Ser915Ala) c.2677+1991T>G (n.2677+1991T>G) n.3066T>G n.2450+5704A>C n.2900T>G n.4187+5704A>C c.2107T>G (p.Ser703Ala) n.2871T>G | |
16 | g.50796420C>A | CA395885984 | CYLD,CYLD-AS2 | c.2783C>A (p.Ser928Tyr) c.2774C>A (p.Ser925Tyr) c.177+1950C>A c.2228C>A (p.Ser743Tyr) c.2744C>A (p.Ser915Tyr) c.2677+1992C>A (n.2677+1992C>A) n.3067C>A n.2450+5703G>T n.2901C>A n.4187+5703G>T c.2108C>A (p.Ser703Tyr) n.2872C>A | |
16 | g.50796420C>G | CA395885987 | CYLD,CYLD-AS2 | c.2783C>G (p.Ser928Cys) c.2774C>G (p.Ser925Cys) c.177+1950C>G c.2228C>G (p.Ser743Cys) c.2744C>G (p.Ser915Cys) c.2677+1992C>G (n.2677+1992C>G) n.3067C>G n.2450+5703G>C n.2901C>G n.4187+5703G>C c.2108C>G (p.Ser703Cys) n.2872C>G | dbSNP |
16 | g.50796420C>T | CA395885982 | CYLD,CYLD-AS2 | c.2783C>T (p.Ser928Phe) c.2774C>T (p.Ser925Phe) c.177+1950C>T c.2228C>T (p.Ser743Phe) c.2744C>T (p.Ser915Phe) c.2677+1992C>T (n.2677+1992C>T) n.3067C>T n.2450+5703G>A n.2901C>T n.4187+5703G>A c.2108C>T (p.Ser703Phe) n.2872C>T | gnomAD v4 |
16 | g.50796421C>A | CA495466562 | CYLD,CYLD-AS2 | c.2784C>A (p.Ser928=) c.2775C>A (p.Ser925=) c.177+1951C>A c.2229C>A (p.Ser743=) c.2745C>A (p.Ser915=) c.2677+1993C>A (n.2677+1993C>A) n.3068C>A n.2450+5702G>T n.2902C>A n.4187+5702G>T c.2109C>A (p.Ser703=) n.2873C>A | |
16 | g.50796421C>G | CA495466563 | CYLD,CYLD-AS2 | c.2784C>G (p.Ser928=) c.2775C>G (p.Ser925=) c.177+1951C>G c.2229C>G (p.Ser743=) c.2745C>G (p.Ser915=) c.2677+1993C>G (n.2677+1993C>G) n.3068C>G n.2450+5702G>C n.2902C>G n.4187+5702G>C c.2109C>G (p.Ser703=) n.2873C>G | |
16 | g.50796421C>T | CA495466566 | CYLD,CYLD-AS2 | c.2784C>T (p.Ser928=) c.2775C>T (p.Ser925=) c.177+1951C>T c.2229C>T (p.Ser743=) c.2745C>T (p.Ser915=) c.2677+1993C>T (n.2677+1993C>T) n.3068C>T n.2450+5702G>A n.2902C>T n.4187+5702G>A c.2109C>T (p.Ser703=) n.2873C>T | dbSNP gnomAD v4 |
16 | g.50796422A>C | CA495466568 | CYLD,CYLD-AS2 | c.2785A>C (p.Arg929=) c.2776A>C (p.Arg926=) c.177+1952A>C c.2230A>C (p.Arg744=) c.2746A>C (p.Arg916=) c.2677+1994A>C (n.2677+1994A>C) n.3069A>C n.2450+5701T>G n.2903A>C n.4187+5701T>G c.2110A>C (p.Arg704=) n.2874A>C | gnomAD v4 |
16 | g.50796422A>G | CA395885990 | CYLD,CYLD-AS2 | c.2785A>G (p.Arg929Gly) c.2776A>G (p.Arg926Gly) c.177+1952A>G c.2230A>G (p.Arg744Gly) c.2746A>G (p.Arg916Gly) c.2677+1994A>G (n.2677+1994A>G) n.3069A>G n.2450+5701T>C n.2903A>G n.4187+5701T>C c.2110A>G (p.Arg704Gly) n.2874A>G | |
16 | g.50796422A>T | CA395885992 | CYLD,CYLD-AS2 | c.2785A>T (p.Arg929Trp) c.2776A>T (p.Arg926Trp) c.177+1952A>T c.2230A>T (p.Arg744Trp) c.2746A>T (p.Arg916Trp) c.2677+1994A>T (n.2677+1994A>T) n.3069A>T n.2450+5701T>A n.2903A>T n.4187+5701T>A c.2110A>T (p.Arg704Trp) n.2874A>T | |
16 | g.50796423G>A | CA395885995 | CYLD,CYLD-AS2 | c.2786G>A (p.Arg929Lys) c.2777G>A (p.Arg926Lys) c.177+1953G>A c.2231G>A (p.Arg744Lys) c.2747G>A (p.Arg916Lys) c.2677+1995G>A (n.2677+1995G>A) n.3070G>A n.2450+5700C>T n.2904G>A n.4187+5700C>T c.2111G>A (p.Arg704Lys) n.2875G>A | |
16 | g.50796423G>C | CA395885996 | CYLD,CYLD-AS2 | c.2786G>C (p.Arg929Thr) c.2777G>C (p.Arg926Thr) c.177+1953G>C c.2231G>C (p.Arg744Thr) c.2747G>C (p.Arg916Thr) c.2677+1995G>C (n.2677+1995G>C) n.3070G>C n.2450+5700C>G n.2904G>C n.4187+5700C>G c.2111G>C (p.Arg704Thr) n.2875G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50796423G= | CA2221882520 | CYLD,CYLD-AS2 | c.2786G= (p.Arg929=) c.2777G= (p.Arg926=) c.177+1953G= c.2231G= (p.Arg744=) c.2747G= (p.Arg916=) c.2677+1995G= (n.2677+1995G=) n.3070G= n.2450+5700C= n.2904G= n.4187+5700C= c.2111G= (p.Arg704=) n.2875G= | |
16 | g.50796423G>T | CA395885999 | CYLD,CYLD-AS2 | c.2786G>T (p.Arg929Met) c.2777G>T (p.Arg926Met) c.177+1953G>T c.2231G>T (p.Arg744Met) c.2747G>T (p.Arg916Met) c.2677+1995G>T (n.2677+1995G>T) n.3070G>T n.2450+5700C>A n.2904G>T n.4187+5700C>A c.2111G>T (p.Arg704Met) n.2875G>T | |
16 | g.50796424G>A | CA495466597 | CYLD,CYLD-AS2 | c.2787G>A (p.Arg929=) c.2778G>A (p.Arg926=) c.177+1954G>A c.2232G>A (p.Arg744=) c.2748G>A (p.Arg916=) c.2677+1996G>A (n.2677+1996G>A) n.3071G>A n.2450+5699C>T n.2905G>A n.4187+5699C>T c.2112G>A (p.Arg704=) n.2876G>A | |
16 | g.50796424G>C | CA395886002 | CYLD,CYLD-AS2 | c.2787G>C (p.Arg929Ser) c.2778G>C (p.Arg926Ser) c.177+1954G>C c.2232G>C (p.Arg744Ser) c.2748G>C (p.Arg916Ser) c.2677+1996G>C (n.2677+1996G>C) n.3071G>C n.2450+5699C>G n.2905G>C n.4187+5699C>G c.2112G>C (p.Arg704Ser) n.2876G>C | |
16 | g.50796424G= | CA2221882523 | CYLD,CYLD-AS2 | c.2787G= (p.Arg929=) c.2778G= (p.Arg926=) c.177+1954G= c.2232G= (p.Arg744=) c.2748G= (p.Arg916=) c.2677+1996G= (n.2677+1996G=) n.3071G= n.2450+5699C= n.2905G= n.4187+5699C= c.2112G= (p.Arg704=) n.2876G= | |
16 | g.50796424G>T | CA395886004 | CYLD,CYLD-AS2 | c.2787G>T (p.Arg929Ser) c.2778G>T (p.Arg926Ser) c.177+1954G>T c.2232G>T (p.Arg744Ser) c.2748G>T (p.Arg916Ser) c.2677+1996G>T (n.2677+1996G>T) n.3071G>T n.2450+5699C>A n.2905G>T n.4187+5699C>A c.2112G>T (p.Arg704Ser) n.2876G>T | dbSNP |
16 | g.50796425del | CA2575992012 | CYLD,CYLD-AS2 | c.2788del (p.Arg930GlufsTer23) c.2779del (p.Arg927GlufsTer23) c.177+1955del c.2233del (p.Arg745GlufsTer23) c.2749del (p.Arg917GlufsTer23) c.2677+1997del (n.2677+1997del) n.3072del n.2450+5698del n.2906del n.4187+5698del c.2113del (p.Arg705GlufsTer23) n.2877del | |
16 | g.50796425A= | CA2221882524 | CYLD,CYLD-AS2 | c.2788A= (p.Arg930=) c.2779A= (p.Arg927=) c.177+1955A= c.2233A= (p.Arg745=) c.2749A= (p.Arg917=) c.2677+1997A= (n.2677+1997A=) n.3072A= n.2450+5698T= n.2906A= n.4187+5698T= c.2113A= (p.Arg705=) n.2877A= | |
16 | g.50796425A>C | CA495466613 | CYLD,CYLD-AS2 | c.2788A>C (p.Arg930=) c.2779A>C (p.Arg927=) c.177+1955A>C c.2233A>C (p.Arg745=) c.2749A>C (p.Arg917=) c.2677+1997A>C (n.2677+1997A>C) n.3072A>C n.2450+5698T>G n.2906A>C n.4187+5698T>G c.2113A>C (p.Arg705=) n.2877A>C | |
16 | g.50796425A>G | CA8052721 | CYLD,CYLD-AS2 | c.2788A>G (p.Arg930Gly) c.2779A>G (p.Arg927Gly) c.177+1955A>G c.2233A>G (p.Arg745Gly) c.2749A>G (p.Arg917Gly) c.2677+1997A>G (n.2677+1997A>G) n.3072A>G n.2450+5698T>C n.2906A>G n.4187+5698T>C c.2113A>G (p.Arg705Gly) n.2877A>G | dbSNP ExAC |
16 | g.50796425A>T | CA395886008 | CYLD,CYLD-AS2 | c.2788A>T (p.Arg930Ter) c.2779A>T (p.Arg927Ter) c.177+1955A>T c.2233A>T (p.Arg745Ter) c.2749A>T (p.Arg917Ter) c.2677+1997A>T (n.2677+1997A>T) n.3072A>T n.2450+5698T>A n.2906A>T n.4187+5698T>A c.2113A>T (p.Arg705Ter) n.2877A>T | |
16 | g.50796426G>A | CA395886012 | CYLD,CYLD-AS2 | c.2789G>A (p.Arg930Lys) c.2780G>A (p.Arg927Lys) c.177+1956G>A c.2234G>A (p.Arg745Lys) c.2750G>A (p.Arg917Lys) c.2677+1998G>A (n.2677+1998G>A) n.3073G>A n.2450+5697C>T n.2907G>A n.4187+5697C>T c.2114G>A (p.Arg705Lys) n.2878G>A | dbSNP gnomAD v4 |
16 | g.50796426G>C | CA395886014 | CYLD,CYLD-AS2 | c.2789G>C (p.Arg930Thr) c.2780G>C (p.Arg927Thr) c.177+1956G>C c.2234G>C (p.Arg745Thr) c.2750G>C (p.Arg917Thr) c.2677+1998G>C (n.2677+1998G>C) n.3073G>C n.2450+5697C>G n.2907G>C n.4187+5697C>G c.2114G>C (p.Arg705Thr) n.2878G>C | |
16 | g.50796426G>T | CA395886016 | CYLD,CYLD-AS2 | c.2789G>T (p.Arg930Ile) c.2780G>T (p.Arg927Ile) c.177+1956G>T c.2234G>T (p.Arg745Ile) c.2750G>T (p.Arg917Ile) c.2677+1998G>T (n.2677+1998G>T) n.3073G>T n.2450+5697C>A n.2907G>T n.4187+5697C>A c.2114G>T (p.Arg705Ile) n.2878G>T | |
16 | g.50796427A>C | CA395886022 | CYLD,CYLD-AS2 | c.2790A>C (p.Arg930Ser) c.2781A>C (p.Arg927Ser) c.177+1957A>C c.2235A>C (p.Arg745Ser) c.2751A>C (p.Arg917Ser) c.2677+1999A>C (n.2677+1999A>C) n.3074A>C n.2450+5696T>G n.2908A>C n.4187+5696T>G c.2115A>C (p.Arg705Ser) n.2879A>C | |
16 | g.50796427A>G | CA495466634 | CYLD,CYLD-AS2 | c.2790A>G (p.Arg930=) c.2781A>G (p.Arg927=) c.177+1957A>G c.2235A>G (p.Arg745=) c.2751A>G (p.Arg917=) c.2677+1999A>G (n.2677+1999A>G) n.3074A>G n.2450+5696T>C n.2908A>G n.4187+5696T>C c.2115A>G (p.Arg705=) n.2879A>G | |
16 | g.50796427A>T | CA395886019 | CYLD,CYLD-AS2 | c.2790A>T (p.Arg930Ser) c.2781A>T (p.Arg927Ser) c.177+1957A>T c.2235A>T (p.Arg745Ser) c.2751A>T (p.Arg917Ser) c.2677+1999A>T (n.2677+1999A>T) n.3074A>T n.2450+5696T>A n.2908A>T n.4187+5696T>A c.2115A>T (p.Arg705Ser) n.2879A>T | |
16 | g.50796427_50796428del | CA2830557536 | CYLD,CYLD-AS2 | c.2790_2791del (p.Arg930SerfsTer11) c.2781_2782del (p.Arg927SerfsTer11) c.177+1957_177+1958del c.2235_2236del (p.Arg745SerfsTer11) c.2751_2752del (p.Arg917SerfsTer11) c.2677+1999_2677+2000del (n.2677+1999_2677+2000del) n.3074_3075del n.2450+5695_2450+5696del n.2908_2909del n.4187+5695_4187+5696del c.2115_2116del (p.Arg705SerfsTer11) n.2879_2880del | |
16 | g.50796428A>C | CA395886025 | CYLD,CYLD-AS2 | c.2791A>C (p.Ile931Leu) c.2782A>C (p.Ile928Leu) c.177+1958A>C c.2236A>C (p.Ile746Leu) c.2752A>C (p.Ile918Leu) c.2677+2000A>C (n.2677+2000A>C) n.3075A>C n.2450+5695T>G n.2909A>C n.4187+5695T>G c.2116A>C (p.Ile706Leu) n.2880A>C | |
16 | g.50796428A>G | CA395886028 | CYLD,CYLD-AS2 | c.2791A>G (p.Ile931Val) c.2782A>G (p.Ile928Val) c.177+1958A>G c.2236A>G (p.Ile746Val) c.2752A>G (p.Ile918Val) c.2677+2000A>G (n.2677+2000A>G) n.3075A>G n.2450+5695T>C n.2909A>G n.4187+5695T>C c.2116A>G (p.Ile706Val) n.2880A>G | |
16 | g.50796428A>T | CA395886029 | CYLD,CYLD-AS2 | c.2791A>T (p.Ile931Phe) c.2782A>T (p.Ile928Phe) c.177+1958A>T c.2236A>T (p.Ile746Phe) c.2752A>T (p.Ile918Phe) c.2677+2000A>T (n.2677+2000A>T) n.3075A>T n.2450+5695T>A n.2909A>T n.4187+5695T>A c.2116A>T (p.Ile706Phe) n.2880A>T | |
16 | g.50796429T>A | CA395886032 | CYLD,CYLD-AS2 | c.2792T>A (p.Ile931Asn) c.2783T>A (p.Ile928Asn) c.177+1959T>A c.2237T>A (p.Ile746Asn) c.2753T>A (p.Ile918Asn) c.2677+2001T>A (n.2677+2001T>A) n.3076T>A n.2450+5694A>T n.2910T>A n.4187+5694A>T c.2117T>A (p.Ile706Asn) n.2881T>A | |
16 | g.50796429T>C | CA395886034 | CYLD,CYLD-AS2 | c.2792T>C (p.Ile931Thr) c.2783T>C (p.Ile928Thr) c.177+1959T>C c.2237T>C (p.Ile746Thr) c.2753T>C (p.Ile918Thr) c.2677+2001T>C (n.2677+2001T>C) n.3076T>C n.2450+5694A>G n.2910T>C n.4187+5694A>G c.2117T>C (p.Ile706Thr) n.2881T>C | |
16 | g.50796429T>G | CA395886037 | CYLD,CYLD-AS2 | c.2792T>G (p.Ile931Ser) c.2783T>G (p.Ile928Ser) c.177+1959T>G c.2237T>G (p.Ile746Ser) c.2753T>G (p.Ile918Ser) c.2677+2001T>G (n.2677+2001T>G) n.3076T>G n.2450+5694A>C n.2910T>G n.4187+5694A>C c.2117T>G (p.Ile706Ser) n.2881T>G | |
16 | g.50796430C>A | CA495466674 | CYLD,CYLD-AS2 | c.2793C>A (p.Ile931=) c.2784C>A (p.Ile928=) c.177+1960C>A c.2238C>A (p.Ile746=) c.2754C>A (p.Ile918=) c.2677+2002C>A (n.2677+2002C>A) n.3077C>A n.2450+5693G>T n.2911C>A n.4187+5693G>T c.2118C>A (p.Ile706=) n.2882C>A | |
16 | g.50796430C= | CA2221882526 | CYLD,CYLD-AS2 | c.2793C= (p.Ile931=) c.2784C= (p.Ile928=) c.177+1960C= c.2238C= (p.Ile746=) c.2754C= (p.Ile918=) c.2677+2002C= (n.2677+2002C=) n.3077C= n.2450+5693G= n.2911C= n.4187+5693G= c.2118C= (p.Ile706=) n.2882C= | |
16 | g.50796430C>G | CA395886040 | CYLD,CYLD-AS2 | c.2793C>G (p.Ile931Met) c.2784C>G (p.Ile928Met) c.177+1960C>G c.2238C>G (p.Ile746Met) c.2754C>G (p.Ile918Met) c.2677+2002C>G (n.2677+2002C>G) n.3077C>G n.2450+5693G>C n.2911C>G n.4187+5693G>C c.2118C>G (p.Ile706Met) n.2882C>G | |
16 | g.50796430C>T | CA495466678 | CYLD,CYLD-AS2 | c.2793C>T (p.Ile931=) c.2784C>T (p.Ile928=) c.177+1960C>T c.2238C>T (p.Ile746=) c.2754C>T (p.Ile918=) c.2677+2002C>T (n.2677+2002C>T) n.3077C>T n.2450+5693G>A n.2911C>T n.4187+5693G>A c.2118C>T (p.Ile706=) n.2882C>T | dbSNP |
16 | g.50796431C>A | CA395886042 | CYLD,CYLD-AS2 | c.2794C>A (p.Gln932Lys) c.2785C>A (p.Gln929Lys) c.177+1961C>A c.2239C>A (p.Gln747Lys) c.2755C>A (p.Gln919Lys) c.2677+2003C>A (n.2677+2003C>A) n.3078C>A n.2450+5692G>T n.2912C>A n.4187+5692G>T c.2119C>A (p.Gln707Lys) n.2883C>A | |
16 | g.50796431C>G | CA395886045 | CYLD,CYLD-AS2 | c.2794C>G (p.Gln932Glu) c.2785C>G (p.Gln929Glu) c.177+1961C>G c.2239C>G (p.Gln747Glu) c.2755C>G (p.Gln919Glu) c.2677+2003C>G (n.2677+2003C>G) n.3078C>G n.2450+5692G>C n.2912C>G n.4187+5692G>C c.2119C>G (p.Gln707Glu) n.2883C>G | |
16 | g.50796431C>T | CA395886047 | CYLD,CYLD-AS2 | c.2794C>T (p.Gln932Ter) c.2785C>T (p.Gln929Ter) c.177+1961C>T c.2239C>T (p.Gln747Ter) c.2755C>T (p.Gln919Ter) c.2677+2003C>T (n.2677+2003C>T) n.3078C>T n.2450+5692G>A n.2912C>T n.4187+5692G>A c.2119C>T (p.Gln707Ter) n.2883C>T | |
16 | g.50796432A>C | CA395886050 | CYLD,CYLD-AS2 | c.2795A>C (p.Gln932Pro) c.2786A>C (p.Gln929Pro) c.177+1962A>C c.2240A>C (p.Gln747Pro) c.2756A>C (p.Gln919Pro) c.2677+2004A>C (n.2677+2004A>C) n.3079A>C n.2450+5691T>G n.2913A>C n.4187+5691T>G c.2120A>C (p.Gln707Pro) n.2884A>C | |
16 | g.50796432A>G | CA395886053 | CYLD,CYLD-AS2 | c.2795A>G (p.Gln932Arg) c.2786A>G (p.Gln929Arg) c.177+1962A>G c.2240A>G (p.Gln747Arg) c.2756A>G (p.Gln919Arg) c.2677+2004A>G (n.2677+2004A>G) n.3079A>G n.2450+5691T>C n.2913A>G n.4187+5691T>C c.2120A>G (p.Gln707Arg) n.2884A>G | |
16 | g.50796432A>T | CA395886056 | CYLD,CYLD-AS2 | c.2795A>T (p.Gln932Leu) c.2786A>T (p.Gln929Leu) c.177+1962A>T c.2240A>T (p.Gln747Leu) c.2756A>T (p.Gln919Leu) c.2677+2004A>T (n.2677+2004A>T) n.3079A>T n.2450+5691T>A n.2913A>T n.4187+5691T>A c.2120A>T (p.Gln707Leu) n.2884A>T | |
16 | g.50796433A>C | CA395886059 | CYLD,CYLD-AS2 | c.2796A>C (p.Gln932His) c.2787A>C (p.Gln929His) c.177+1963A>C c.2241A>C (p.Gln747His) c.2757A>C (p.Gln919His) c.2677+2005A>C (n.2677+2005A>C) n.3080A>C n.2450+5690T>G n.2914A>C n.4187+5690T>G c.2121A>C (p.Gln707His) n.2885A>C | |
16 | g.50796433A>G | CA495466699 | CYLD,CYLD-AS2 | c.2796A>G (p.Gln932=) c.2787A>G (p.Gln929=) c.177+1963A>G c.2241A>G (p.Gln747=) c.2757A>G (p.Gln919=) c.2677+2005A>G (n.2677+2005A>G) n.3080A>G n.2450+5690T>C n.2914A>G n.4187+5690T>C c.2121A>G (p.Gln707=) n.2885A>G | |
16 | g.50796433A>T | CA395886061 | CYLD,CYLD-AS2 | c.2796A>T (p.Gln932His) c.2787A>T (p.Gln929His) c.177+1963A>T c.2241A>T (p.Gln747His) c.2757A>T (p.Gln919His) c.2677+2005A>T (n.2677+2005A>T) n.3080A>T n.2450+5690T>A n.2914A>T n.4187+5690T>A c.2121A>T (p.Gln707His) n.2885A>T | |
16 | g.50796434G>A | CA395886063 | CYLD,CYLD-AS2 | c.2797G>A (p.Gly933Ser) c.2788G>A (p.Gly930Ser) c.177+1964G>A c.2242G>A (p.Gly748Ser) c.2758G>A (p.Gly920Ser) c.2677+2006G>A (n.2677+2006G>A) n.3081G>A n.2450+5689C>T n.2915G>A n.4187+5689C>T c.2122G>A (p.Gly708Ser) n.2886G>A | |
16 | g.50796434G>C | CA395886067 | CYLD,CYLD-AS2 | c.2797G>C (p.Gly933Arg) c.2788G>C (p.Gly930Arg) c.177+1964G>C c.2242G>C (p.Gly748Arg) c.2758G>C (p.Gly920Arg) c.2677+2006G>C (n.2677+2006G>C) n.3081G>C n.2450+5689C>G n.2915G>C n.4187+5689C>G c.2122G>C (p.Gly708Arg) n.2886G>C | |
16 | g.50796434G>T | CA395886064 | CYLD,CYLD-AS2 | c.2797G>T (p.Gly933Cys) c.2788G>T (p.Gly930Cys) c.177+1964G>T c.2242G>T (p.Gly748Cys) c.2758G>T (p.Gly920Cys) c.2677+2006G>T (n.2677+2006G>T) n.3081G>T n.2450+5689C>A n.2915G>T n.4187+5689C>A c.2122G>T (p.Gly708Cys) n.2886G>T | |
16 | g.50796435G>A | CA395886070 | CYLD,CYLD-AS2 | c.2798G>A (p.Gly933Asp) c.2789G>A (p.Gly930Asp) c.177+1965G>A c.2243G>A (p.Gly748Asp) c.2759G>A (p.Gly920Asp) c.2677+2007G>A (n.2677+2007G>A) n.3082G>A n.2450+5688C>T n.2916G>A n.4187+5688C>T c.2123G>A (p.Gly708Asp) n.2887G>A | |
16 | g.50796435G>C | CA395886072 | CYLD,CYLD-AS2 | c.2798G>C (p.Gly933Ala) c.2789G>C (p.Gly930Ala) c.177+1965G>C c.2243G>C (p.Gly748Ala) c.2759G>C (p.Gly920Ala) c.2677+2007G>C (n.2677+2007G>C) n.3082G>C n.2450+5688C>G n.2916G>C n.4187+5688C>G c.2123G>C (p.Gly708Ala) n.2887G>C | |
16 | g.50796435G>T | CA395886074 | CYLD,CYLD-AS2 | c.2798G>T (p.Gly933Val) c.2789G>T (p.Gly930Val) c.177+1965G>T c.2243G>T (p.Gly748Val) c.2759G>T (p.Gly920Val) c.2677+2007G>T (n.2677+2007G>T) n.3082G>T n.2450+5688C>A n.2916G>T n.4187+5688C>A c.2123G>T (p.Gly708Val) n.2887G>T | gnomAD v4 |
16 | g.50796436C>A | CA495466729 | CYLD,CYLD-AS2 | c.2799C>A (p.Gly933=) c.2790C>A (p.Gly930=) c.177+1966C>A c.2244C>A (p.Gly748=) c.2760C>A (p.Gly920=) c.2677+2008C>A (n.2677+2008C>A) n.3083C>A n.2450+5687G>T n.2917C>A n.4187+5687G>T c.2124C>A (p.Gly708=) n.2888C>A | |
16 | g.50796436C>G | CA495466728 | CYLD,CYLD-AS2 | c.2799C>G (p.Gly933=) c.2790C>G (p.Gly930=) c.177+1966C>G c.2244C>G (p.Gly748=) c.2760C>G (p.Gly920=) c.2677+2008C>G (n.2677+2008C>G) n.3083C>G n.2450+5687G>C n.2917C>G n.4187+5687G>C c.2124C>G (p.Gly708=) n.2888C>G | |
16 | g.50796436C>T | CA495466727 | CYLD,CYLD-AS2 | c.2799C>T (p.Gly933=) c.2790C>T (p.Gly930=) c.177+1966C>T c.2244C>T (p.Gly748=) c.2760C>T (p.Gly920=) c.2677+2008C>T (n.2677+2008C>T) n.3083C>T n.2450+5687G>A n.2917C>T n.4187+5687G>A c.2124C>T (p.Gly708=) n.2888C>T | |
16 | g.50796437T>A | CA395886077 | CYLD,CYLD-AS2 | c.2800T>A (p.Cys934Ser) c.2791T>A (p.Cys931Ser) c.177+1967T>A c.2245T>A (p.Cys749Ser) c.2761T>A (p.Cys921Ser) c.2677+2009T>A (n.2677+2009T>A) n.3084T>A n.2450+5686A>T n.2918T>A n.4187+5686A>T c.2125T>A (p.Cys709Ser) n.2889T>A | |
16 | g.50796437T>C | CA395886078 | CYLD,CYLD-AS2 | c.2800T>C (p.Cys934Arg) c.2791T>C (p.Cys931Arg) c.177+1967T>C c.2245T>C (p.Cys749Arg) c.2761T>C (p.Cys921Arg) c.2677+2009T>C (n.2677+2009T>C) n.3084T>C n.2450+5686A>G n.2918T>C n.4187+5686A>G c.2125T>C (p.Cys709Arg) n.2889T>C | |
16 | g.50796437T>G | CA395886079 | CYLD,CYLD-AS2 | c.2800T>G (p.Cys934Gly) c.2791T>G (p.Cys931Gly) c.177+1967T>G c.2245T>G (p.Cys749Gly) c.2761T>G (p.Cys921Gly) c.2677+2009T>G (n.2677+2009T>G) n.3084T>G n.2450+5686A>C n.2918T>G n.4187+5686A>C c.2125T>G (p.Cys709Gly) n.2889T>G | |
16 | g.50796438G>A | CA395886081 | CYLD,CYLD-AS2 | c.2801G>A (p.Cys934Tyr) c.2792G>A (p.Cys931Tyr) c.177+1968G>A c.2246G>A (p.Cys749Tyr) c.2762G>A (p.Cys921Tyr) c.2677+2010G>A (n.2677+2010G>A) n.3085G>A n.2450+5685C>T n.2919G>A n.4187+5685C>T c.2126G>A (p.Cys709Tyr) n.2890G>A | dbSNP COSMIC |
16 | g.50796438G>C | CA395886083 | CYLD,CYLD-AS2 | c.2801G>C (p.Cys934Ser) c.2792G>C (p.Cys931Ser) c.177+1968G>C c.2246G>C (p.Cys749Ser) c.2762G>C (p.Cys921Ser) c.2677+2010G>C (n.2677+2010G>C) n.3085G>C n.2450+5685C>G n.2919G>C n.4187+5685C>G c.2126G>C (p.Cys709Ser) n.2890G>C | |
16 | g.50796438G>T | CA395886085 | CYLD,CYLD-AS2 | c.2801G>T (p.Cys934Phe) c.2792G>T (p.Cys931Phe) c.177+1968G>T c.2246G>T (p.Cys749Phe) c.2762G>T (p.Cys921Phe) c.2677+2010G>T (n.2677+2010G>T) n.3085G>T n.2450+5685C>A n.2919G>T n.4187+5685C>A c.2126G>T (p.Cys709Phe) n.2890G>T | |
16 | g.50796439T>A | CA395886087 | CYLD,CYLD-AS2 | c.2802T>A (p.Cys934Ter) c.2793T>A (p.Cys931Ter) c.177+1969T>A c.2247T>A (p.Cys749Ter) c.2763T>A (p.Cys921Ter) c.2677+2011T>A (n.2677+2011T>A) n.3086T>A n.2450+5684A>T n.2920T>A n.4187+5684A>T c.2127T>A (p.Cys709Ter) n.2891T>A | |
16 | g.50796439T>C | CA495466744 | CYLD,CYLD-AS2 | c.2802T>C (p.Cys934=) c.2793T>C (p.Cys931=) c.177+1969T>C c.2247T>C (p.Cys749=) c.2763T>C (p.Cys921=) c.2677+2011T>C (n.2677+2011T>C) n.3086T>C n.2450+5684A>G n.2920T>C n.4187+5684A>G c.2127T>C (p.Cys709=) n.2891T>C | dbSNP gnomAD v4 |
16 | g.50796439T>G | CA395886089 | CYLD,CYLD-AS2 | c.2802T>G (p.Cys934Trp) c.2793T>G (p.Cys931Trp) c.177+1969T>G c.2247T>G (p.Cys749Trp) c.2763T>G (p.Cys921Trp) c.2677+2011T>G (n.2677+2011T>G) n.3086T>G n.2450+5684A>C n.2920T>G n.4187+5684A>C c.2127T>G (p.Cys709Trp) n.2891T>G | |
16 | g.50796439T= | CA2221882528 | CYLD,CYLD-AS2 | c.2802T= (p.Cys934=) c.2793T= (p.Cys931=) c.177+1969T= c.2247T= (p.Cys749=) c.2763T= (p.Cys921=) c.2677+2011T= (n.2677+2011T=) n.3086T= n.2450+5684A= n.2920T= n.4187+5684A= c.2127T= (p.Cys709=) n.2891T= | |
16 | g.50796440G>A | CA395886097 | CYLD,CYLD-AS2 | c.2803G>A (p.Ala935Thr) c.2794G>A (p.Ala932Thr) c.177+1970G>A c.2248G>A (p.Ala750Thr) c.2764G>A (p.Ala922Thr) c.2677+2012G>A (n.2677+2012G>A) n.3087G>A n.2450+5683C>T n.2921G>A n.4187+5683C>T c.2128G>A (p.Ala710Thr) n.2892G>A | |
16 | g.50796440G>C | CA395886095 | CYLD,CYLD-AS2 | c.2803G>C (p.Ala935Pro) c.2794G>C (p.Ala932Pro) c.177+1970G>C c.2248G>C (p.Ala750Pro) c.2764G>C (p.Ala922Pro) c.2677+2012G>C (n.2677+2012G>C) n.3087G>C n.2450+5683C>G n.2921G>C n.4187+5683C>G c.2128G>C (p.Ala710Pro) n.2892G>C | |
16 | g.50796440G>T | CA395886093 | CYLD,CYLD-AS2 | c.2803G>T (p.Ala935Ser) c.2794G>T (p.Ala932Ser) c.177+1970G>T c.2248G>T (p.Ala750Ser) c.2764G>T (p.Ala922Ser) c.2677+2012G>T (n.2677+2012G>T) n.3087G>T n.2450+5683C>A n.2921G>T n.4187+5683C>A c.2128G>T (p.Ala710Ser) n.2892G>T | gnomAD v4 |
16 | g.50796441C>A | CA395886100 | CYLD,CYLD-AS2 | c.2804C>A (p.Ala935Glu) c.2795C>A (p.Ala932Glu) c.177+1971C>A c.2249C>A (p.Ala750Glu) c.2765C>A (p.Ala922Glu) c.2677+2013C>A (n.2677+2013C>A) n.3088C>A n.2450+5682G>T n.2922C>A n.4187+5682G>T c.2129C>A (p.Ala710Glu) n.2893C>A | dbSNP |
16 | g.50796441C>G | CA395886102 | CYLD,CYLD-AS2 | c.2804C>G (p.Ala935Gly) c.2795C>G (p.Ala932Gly) c.177+1971C>G c.2249C>G (p.Ala750Gly) c.2765C>G (p.Ala922Gly) c.2677+2013C>G (n.2677+2013C>G) n.3088C>G n.2450+5682G>C n.2922C>G n.4187+5682G>C c.2129C>G (p.Ala710Gly) n.2893C>G | |
16 | g.50796441C>T | CA395886105 | CYLD,CYLD-AS2 | c.2804C>T (p.Ala935Val) c.2795C>T (p.Ala932Val) c.177+1971C>T c.2249C>T (p.Ala750Val) c.2765C>T (p.Ala922Val) c.2677+2013C>T (n.2677+2013C>T) n.3088C>T n.2450+5682G>A n.2922C>T n.4187+5682G>A c.2129C>T (p.Ala710Val) n.2893C>T | |
16 | g.50796442A>C | CA495466768 | CYLD,CYLD-AS2 | c.2805A>C (p.Ala935=) c.2796A>C (p.Ala932=) c.177+1972A>C c.2250A>C (p.Ala750=) c.2766A>C (p.Ala922=) c.2677+2014A>C (n.2677+2014A>C) n.3089A>C n.2450+5681T>G n.2923A>C n.4187+5681T>G c.2130A>C (p.Ala710=) n.2894A>C | |
16 | g.50796442A>G | CA495466769 | CYLD,CYLD-AS2 | c.2805A>G (p.Ala935=) c.2796A>G (p.Ala932=) c.177+1972A>G c.2250A>G (p.Ala750=) c.2766A>G (p.Ala922=) c.2677+2014A>G (n.2677+2014A>G) n.3089A>G n.2450+5681T>C n.2923A>G n.4187+5681T>C c.2130A>G (p.Ala710=) n.2894A>G | COSMIC COSMIC |
16 | g.50796442A>T | CA495466772 | CYLD,CYLD-AS2 | c.2805A>T (p.Ala935=) c.2796A>T (p.Ala932=) c.177+1972A>T c.2250A>T (p.Ala750=) c.2766A>T (p.Ala922=) c.2677+2014A>T (n.2677+2014A>T) n.3089A>T n.2450+5681T>A n.2923A>T n.4187+5681T>A c.2130A>T (p.Ala710=) n.2894A>T | |
16 | g.50796443C>A | CA495466777 | CYLD,CYLD-AS2 | c.2806C>A (p.Arg936=) c.2797C>A (p.Arg933=) c.177+1973C>A c.2251C>A (p.Arg751=) c.2767C>A (p.Arg923=) c.2677+2015C>A (n.2677+2015C>A) n.3090C>A n.2450+5680G>T n.2924C>A n.4187+5680G>T c.2131C>A (p.Arg711=) n.2895C>A | |
16 | g.50796443C= | CA2221882532 | CYLD,CYLD-AS2 | c.2806C= (p.Arg936=) c.2797C= (p.Arg933=) c.177+1973C= c.2251C= (p.Arg751=) c.2767C= (p.Arg923=) c.2677+2015C= (n.2677+2015C=) n.3090C= n.2450+5680G= n.2924C= n.4187+5680G= c.2131C= (p.Arg711=) n.2895C= | |
16 | g.50796443C>G | CA8052722 | CYLD,CYLD-AS2 | c.2806C>G (p.Arg936Gly) c.2797C>G (p.Arg933Gly) c.177+1973C>G c.2251C>G (p.Arg751Gly) c.2767C>G (p.Arg923Gly) c.2677+2015C>G (n.2677+2015C>G) n.3090C>G n.2450+5680G>C n.2924C>G n.4187+5680G>C c.2131C>G (p.Arg711Gly) n.2895C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50796443C>T | CA214928 | CYLD,CYLD-AS2 | c.2806C>T (p.Arg936Ter) c.2797C>T (p.Arg933Ter) c.177+1973C>T c.2251C>T (p.Arg751Ter) c.2767C>T (p.Arg923Ter) c.2677+2015C>T (n.2677+2015C>T) n.3090C>T n.2450+5680G>A n.2924C>T n.4187+5680G>A c.2131C>T (p.Arg711Ter) n.2895C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
16 | g.50796444G>A | CA395886111 | CYLD,CYLD-AS2 | c.2807G>A (p.Arg936Gln) c.2798G>A (p.Arg933Gln) c.177+1974G>A c.2252G>A (p.Arg751Gln) c.2768G>A (p.Arg923Gln) c.2677+2016G>A (n.2677+2016G>A) n.3091G>A n.2450+5679C>T n.2925G>A n.4187+5679C>T c.2132G>A (p.Arg711Gln) n.2896G>A | dbSNP gnomAD v4 |
16 | g.50796444G>C | CA395886113 | CYLD,CYLD-AS2 | c.2807G>C (p.Arg936Pro) c.2798G>C (p.Arg933Pro) c.177+1974G>C c.2252G>C (p.Arg751Pro) c.2768G>C (p.Arg923Pro) c.2677+2016G>C (n.2677+2016G>C) n.3091G>C n.2450+5679C>G n.2925G>C n.4187+5679C>G c.2132G>C (p.Arg711Pro) n.2896G>C | |
16 | g.50796444G>T | CA395886116 | CYLD,CYLD-AS2 | c.2807G>T (p.Arg936Leu) c.2798G>T (p.Arg933Leu) c.177+1974G>T c.2252G>T (p.Arg751Leu) c.2768G>T (p.Arg923Leu) c.2677+2016G>T (n.2677+2016G>T) n.3091G>T n.2450+5679C>A n.2925G>T n.4187+5679C>A c.2132G>T (p.Arg711Leu) n.2896G>T | |
16 | g.50796445A>C | CA495466797 | CYLD,CYLD-AS2 | c.2808A>C (p.Arg936=) c.2799A>C (p.Arg933=) c.177+1975A>C c.2253A>C (p.Arg751=) c.2769A>C (p.Arg923=) c.2677+2017A>C (n.2677+2017A>C) n.3092A>C n.2450+5678T>G n.2926A>C n.4187+5678T>G c.2133A>C (p.Arg711=) n.2897A>C | |
16 | g.50796445A>G | CA495466798 | CYLD,CYLD-AS2 | c.2808A>G (p.Arg936=) c.2799A>G (p.Arg933=) c.177+1975A>G c.2253A>G (p.Arg751=) c.2769A>G (p.Arg923=) c.2677+2017A>G (n.2677+2017A>G) n.3092A>G n.2450+5678T>C n.2926A>G n.4187+5678T>C c.2133A>G (p.Arg711=) n.2897A>G | |
16 | g.50796445A>T | CA495466800 | CYLD,CYLD-AS2 | c.2808A>T (p.Arg936=) c.2799A>T (p.Arg933=) c.177+1975A>T c.2253A>T (p.Arg751=) c.2769A>T (p.Arg923=) c.2677+2017A>T (n.2677+2017A>T) n.3092A>T n.2450+5678T>A n.2926A>T n.4187+5678T>A c.2133A>T (p.Arg711=) n.2897A>T | |
16 | g.50796446A>C | CA495466804 | CYLD,CYLD-AS2 | c.2809A>C (p.Arg937=) c.2800A>C (p.Arg934=) c.177+1976A>C c.2254A>C (p.Arg752=) c.2770A>C (p.Arg924=) c.2677+2018A>C (n.2677+2018A>C) n.3093A>C n.2450+5677T>G n.2927A>C n.4187+5677T>G c.2134A>C (p.Arg712=) n.2898A>C | |
16 | g.50796446A>G | CA395886119 | CYLD,CYLD-AS2 | c.2809A>G (p.Arg937Gly) c.2800A>G (p.Arg934Gly) c.177+1976A>G c.2254A>G (p.Arg752Gly) c.2770A>G (p.Arg924Gly) c.2677+2018A>G (n.2677+2018A>G) n.3093A>G n.2450+5677T>C n.2927A>G n.4187+5677T>C c.2134A>G (p.Arg712Gly) n.2898A>G | |
16 | g.50796446A>T | CA395886121 | CYLD,CYLD-AS2 | c.2809A>T (p.Arg937Ter) c.2800A>T (p.Arg934Ter) c.177+1976A>T c.2254A>T (p.Arg752Ter) c.2770A>T (p.Arg924Ter) c.2677+2018A>T (n.2677+2018A>T) n.3093A>T n.2450+5677T>A n.2927A>T n.4187+5677T>A c.2134A>T (p.Arg712Ter) n.2898A>T | |
16 | g.50796447G>A | CA395886125 | CYLD,CYLD-AS2 | c.2810G>A (p.Arg937Lys) c.2801G>A (p.Arg934Lys) c.177+1977G>A c.2255G>A (p.Arg752Lys) c.2771G>A (p.Arg924Lys) c.2677+2019G>A (n.2677+2019G>A) n.3094G>A n.2450+5676C>T n.2928G>A n.4187+5676C>T c.2135G>A (p.Arg712Lys) n.2899G>A | gnomAD v4 |
16 | g.50796447G>C | CA395886127 | CYLD,CYLD-AS2 | c.2810G>C (p.Arg937Thr) c.2801G>C (p.Arg934Thr) c.177+1977G>C c.2255G>C (p.Arg752Thr) c.2771G>C (p.Arg924Thr) c.2677+2019G>C (n.2677+2019G>C) n.3094G>C n.2450+5676C>G n.2928G>C n.4187+5676C>G c.2135G>C (p.Arg712Thr) n.2899G>C | |
16 | g.50796447G>T | CA395886129 | CYLD,CYLD-AS2 | c.2810G>T (p.Arg937Ile) c.2801G>T (p.Arg934Ile) c.177+1977G>T c.2255G>T (p.Arg752Ile) c.2771G>T (p.Arg924Ile) c.2677+2019G>T (n.2677+2019G>T) n.3094G>T n.2450+5676C>A n.2928G>T n.4187+5676C>A c.2135G>T (p.Arg712Ile) n.2899G>T | |
16 | g.50796448A>C | CA395886132 | CYLD,CYLD-AS2 | c.2811A>C (p.Arg937Ser) c.2802A>C (p.Arg934Ser) c.177+1978A>C c.2256A>C (p.Arg752Ser) c.2772A>C (p.Arg924Ser) c.2677+2020A>C (n.2677+2020A>C) n.3095A>C n.2450+5675T>G n.2929A>C n.4187+5675T>G c.2136A>C (p.Arg712Ser) n.2900A>C | |
16 | g.50796448A>G | CA495466823 | CYLD,CYLD-AS2 | c.2811A>G (p.Arg937=) c.2802A>G (p.Arg934=) c.177+1978A>G c.2256A>G (p.Arg752=) c.2772A>G (p.Arg924=) c.2677+2020A>G (n.2677+2020A>G) n.3095A>G n.2450+5675T>C n.2929A>G n.4187+5675T>C c.2136A>G (p.Arg712=) n.2900A>G | |
16 | g.50796448A>T | CA395886134 | CYLD,CYLD-AS2 | c.2811A>T (p.Arg937Ser) c.2802A>T (p.Arg934Ser) c.177+1978A>T c.2256A>T (p.Arg752Ser) c.2772A>T (p.Arg924Ser) c.2677+2020A>T (n.2677+2020A>T) n.3095A>T n.2450+5675T>A n.2929A>T n.4187+5675T>A c.2136A>T (p.Arg712Ser) n.2900A>T | |
16 | g.50796449C>A | CA395886137 | CYLD,CYLD-AS2 | c.2812C>A (p.Leu938Met) c.2803C>A (p.Leu935Met) c.177+1979C>A c.2257C>A (p.Leu753Met) c.2773C>A (p.Leu925Met) c.2677+2021C>A (n.2677+2021C>A) n.3096C>A n.2450+5674G>T n.2930C>A n.4187+5674G>T c.2137C>A (p.Leu713Met) n.2901C>A | |
16 | g.50796449C>G | CA395886139 | CYLD,CYLD-AS2 | c.2812C>G (p.Leu938Val) c.2803C>G (p.Leu935Val) c.177+1979C>G c.2257C>G (p.Leu753Val) c.2773C>G (p.Leu925Val) c.2677+2021C>G (n.2677+2021C>G) n.3096C>G n.2450+5674G>C n.2930C>G n.4187+5674G>C c.2137C>G (p.Leu713Val) n.2901C>G | |
16 | g.50796449C>T | CA495466829 | CYLD,CYLD-AS2 | c.2812C>T (p.Leu938=) c.2803C>T (p.Leu935=) c.177+1979C>T c.2257C>T (p.Leu753=) c.2773C>T (p.Leu925=) c.2677+2021C>T (n.2677+2021C>T) n.3096C>T n.2450+5674G>A n.2930C>T n.4187+5674G>A c.2137C>T (p.Leu713=) n.2901C>T | |
16 | g.50796450T>A | CA395886143 | CYLD,CYLD-AS2 | c.2813T>A (p.Leu938Gln) c.2804T>A (p.Leu935Gln) c.177+1980T>A c.2258T>A (p.Leu753Gln) c.2774T>A (p.Leu925Gln) c.2677+2022T>A (n.2677+2022T>A) n.3097T>A n.2450+5673A>T n.2931T>A n.4187+5673A>T c.2138T>A (p.Leu713Gln) n.2902T>A | |
16 | g.50796450T>C | CA395886145 | CYLD,CYLD-AS2 | c.2813T>C (p.Leu938Pro) c.2804T>C (p.Leu935Pro) c.177+1980T>C c.2258T>C (p.Leu753Pro) c.2774T>C (p.Leu925Pro) c.2677+2022T>C (n.2677+2022T>C) n.3097T>C n.2450+5673A>G n.2931T>C n.4187+5673A>G c.2138T>C (p.Leu713Pro) n.2902T>C | |
16 | g.50796450T>G | CA395886148 | CYLD,CYLD-AS2 | c.2813T>G (p.Leu938Arg) c.2804T>G (p.Leu935Arg) c.177+1980T>G c.2258T>G (p.Leu753Arg) c.2774T>G (p.Leu925Arg) c.2677+2022T>G (n.2677+2022T>G) n.3097T>G n.2450+5673A>C n.2931T>G n.4187+5673A>C c.2138T>G (p.Leu713Arg) n.2902T>G | |
16 | g.50796451_50796454del | CA2695223336 | CYLD,CYLD-AS2 | c.2814_2817del (p.Leu939ValfsTer13) c.2805_2808del (p.Leu936ValfsTer13) c.177+1981_177+1984del c.2259_2262del (p.Leu754ValfsTer13) c.2775_2778del (p.Leu926ValfsTer13) c.2677+2023_2677+2026del (n.2677+2023_2677+2026del) n.3098_3101del n.2450+5670_2450+5673del n.2932_2935del n.4187+5670_4187+5673del c.2139_2142del (p.Leu714ValfsTer13) n.2903_2906del | |
16 | g.50796451G>A | CA8052723 | CYLD,CYLD-AS2 | c.2814G>A (p.Leu938=) c.2805G>A (p.Leu935=) c.177+1981G>A c.2259G>A (p.Leu753=) c.2775G>A (p.Leu925=) c.2677+2023G>A (n.2677+2023G>A) n.3098G>A n.2450+5672C>T n.2932G>A n.4187+5672C>T c.2139G>A (p.Leu713=) n.2903G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50796451G>C | CA495466842 | CYLD,CYLD-AS2 | c.2814G>C (p.Leu938=) c.2805G>C (p.Leu935=) c.177+1981G>C c.2259G>C (p.Leu753=) c.2775G>C (p.Leu925=) c.2677+2023G>C (n.2677+2023G>C) n.3098G>C n.2450+5672C>G n.2932G>C n.4187+5672C>G c.2139G>C (p.Leu713=) n.2903G>C | |
16 | g.50796451G= | CA2221882538 | CYLD,CYLD-AS2 | c.2814G= (p.Leu938=) c.2805G= (p.Leu935=) c.177+1981G= c.2259G= (p.Leu753=) c.2775G= (p.Leu925=) c.2677+2023G= (n.2677+2023G=) n.3098G= n.2450+5672C= n.2932G= n.4187+5672C= c.2139G= (p.Leu713=) n.2903G= | |
16 | g.50796451G>T | CA495466847 | CYLD,CYLD-AS2 | c.2814G>T (p.Leu938=) c.2805G>T (p.Leu935=) c.177+1981G>T c.2259G>T (p.Leu753=) c.2775G>T (p.Leu925=) c.2677+2023G>T (n.2677+2023G>T) n.3098G>T n.2450+5672C>A n.2932G>T n.4187+5672C>A c.2139G>T (p.Leu713=) n.2903G>T | |
16 | g.50796452del | CA2695223337 | CYLD,CYLD-AS2 | c.2815del (p.Leu939PhefsTer14) c.2806del (p.Leu936PhefsTer14) c.177+1982del c.2260del (p.Leu754PhefsTer14) c.2776del (p.Leu926PhefsTer14) c.2677+2024del (n.2677+2024del) n.3099del n.2450+5671del n.2933del n.4187+5671del c.2140del (p.Leu714PhefsTer14) n.2904del | |
16 | g.50796452C>A | CA395886154 | CYLD,CYLD-AS2 | c.2815C>A (p.Leu939Ile) c.2806C>A (p.Leu936Ile) c.177+1982C>A c.2260C>A (p.Leu754Ile) c.2776C>A (p.Leu926Ile) c.2677+2024C>A (n.2677+2024C>A) n.3099C>A n.2450+5671G>T n.2933C>A n.4187+5671G>T c.2140C>A (p.Leu714Ile) n.2904C>A | |
16 | g.50796452C= | CA2221882542 | CYLD,CYLD-AS2 | c.2815C= (p.Leu939=) c.2806C= (p.Leu936=) c.177+1982C= c.2260C= (p.Leu754=) c.2776C= (p.Leu926=) c.2677+2024C= (n.2677+2024C=) n.3099C= n.2450+5671G= n.2933C= n.4187+5671G= c.2140C= (p.Leu714=) n.2904C= | |
16 | g.50796452C>G | CA395886157 | CYLD,CYLD-AS2 | c.2815C>G (p.Leu939Val) c.2806C>G (p.Leu936Val) c.177+1982C>G c.2260C>G (p.Leu754Val) c.2776C>G (p.Leu926Val) c.2677+2024C>G (n.2677+2024C>G) n.3099C>G n.2450+5671G>C n.2933C>G n.4187+5671G>C c.2140C>G (p.Leu714Val) n.2904C>G | |
16 | g.50796452C>T | CA8052724 | CYLD,CYLD-AS2 | c.2815C>T (p.Leu939Phe) c.2806C>T (p.Leu936Phe) c.177+1982C>T c.2260C>T (p.Leu754Phe) c.2776C>T (p.Leu926Phe) c.2677+2024C>T (n.2677+2024C>T) n.3099C>T n.2450+5671G>A n.2933C>T n.4187+5671G>A c.2140C>T (p.Leu714Phe) n.2904C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50796453T>A | CA395886161 | CYLD,CYLD-AS2 | c.2816T>A (p.Leu939His) c.2807T>A (p.Leu936His) c.177+1983T>A c.2261T>A (p.Leu754His) c.2777T>A (p.Leu926His) c.2677+2025T>A (n.2677+2025T>A) n.3100T>A n.2450+5670A>T n.2934T>A n.4187+5670A>T c.2141T>A (p.Leu714His) n.2905T>A | |
16 | g.50796453T>C | CA395886162 | CYLD,CYLD-AS2 | c.2816T>C (p.Leu939Pro) c.2807T>C (p.Leu936Pro) c.177+1983T>C c.2261T>C (p.Leu754Pro) c.2777T>C (p.Leu926Pro) c.2677+2025T>C (n.2677+2025T>C) n.3100T>C n.2450+5670A>G n.2934T>C n.4187+5670A>G c.2141T>C (p.Leu714Pro) n.2905T>C | gnomAD v4 |
16 | g.50796453T>G | CA395886164 | CYLD,CYLD-AS2 | c.2816T>G (p.Leu939Arg) c.2807T>G (p.Leu936Arg) c.177+1983T>G c.2261T>G (p.Leu754Arg) c.2777T>G (p.Leu926Arg) c.2677+2025T>G (n.2677+2025T>G) n.3100T>G n.2450+5670A>C n.2934T>G n.4187+5670A>C c.2141T>G (p.Leu714Arg) n.2905T>G | |
16 | g.50796454T>A | CA495466887 | CYLD,CYLD-AS2 | c.2817T>A (p.Leu939=) c.2808T>A (p.Leu936=) c.177+1984T>A c.2262T>A (p.Leu754=) c.2778T>A (p.Leu926=) c.2677+2026T>A (n.2677+2026T>A) n.3101T>A n.2450+5669A>T n.2935T>A n.4187+5669A>T c.2142T>A (p.Leu714=) n.2906T>A | |
16 | g.50796454T>C | CA495466885 | CYLD,CYLD-AS2 | c.2817T>C (p.Leu939=) c.2808T>C (p.Leu936=) c.177+1984T>C c.2262T>C (p.Leu754=) c.2778T>C (p.Leu926=) c.2677+2026T>C (n.2677+2026T>C) n.3101T>C n.2450+5669A>G n.2935T>C n.4187+5669A>G c.2142T>C (p.Leu714=) n.2906T>C | |
16 | g.50796454T>G | CA495466881 | CYLD,CYLD-AS2 | c.2817T>G (p.Leu939=) c.2808T>G (p.Leu936=) c.177+1984T>G c.2262T>G (p.Leu754=) c.2778T>G (p.Leu926=) c.2677+2026T>G (n.2677+2026T>G) n.3101T>G n.2450+5669A>C n.2935T>G n.4187+5669A>C c.2142T>G (p.Leu714=) n.2906T>G | |
16 | g.50796455T>A | CA395886168 | CYLD,CYLD-AS2 | c.2818T>A (p.Cys940Ser) c.2809T>A (p.Cys937Ser) c.177+1985T>A c.2263T>A (p.Cys755Ser) c.2779T>A (p.Cys927Ser) c.2677+2027T>A (n.2677+2027T>A) n.3102T>A n.2450+5668A>T n.2936T>A n.4187+5668A>T c.2143T>A (p.Cys715Ser) n.2907T>A | |
16 | g.50796455T>C | CA395886171 | CYLD,CYLD-AS2 | c.2818T>C (p.Cys940Arg) c.2809T>C (p.Cys937Arg) c.177+1985T>C c.2263T>C (p.Cys755Arg) c.2779T>C (p.Cys927Arg) c.2677+2027T>C (n.2677+2027T>C) n.3102T>C n.2450+5668A>G n.2936T>C n.4187+5668A>G c.2143T>C (p.Cys715Arg) n.2907T>C | |
16 | g.50796455T>G | CA395886166 | CYLD,CYLD-AS2 | c.2818T>G (p.Cys940Gly) c.2809T>G (p.Cys937Gly) c.177+1985T>G c.2263T>G (p.Cys755Gly) c.2779T>G (p.Cys927Gly) c.2677+2027T>G (n.2677+2027T>G) n.3102T>G n.2450+5668A>C n.2936T>G n.4187+5668A>C c.2143T>G (p.Cys715Gly) n.2907T>G | |
16 | g.50796456G>A | CA395886174 | CYLD,CYLD-AS2 | c.2819G>A (p.Cys940Tyr) c.2810G>A (p.Cys937Tyr) c.177+1986G>A c.2264G>A (p.Cys755Tyr) c.2780G>A (p.Cys927Tyr) c.2677+2028G>A (n.2677+2028G>A) n.3103G>A n.2450+5667C>T n.2937G>A n.4187+5667C>T c.2144G>A (p.Cys715Tyr) n.2908G>A | |
16 | g.50796456G>C | CA395886176 | CYLD,CYLD-AS2 | c.2819G>C (p.Cys940Ser) c.2810G>C (p.Cys937Ser) c.177+1986G>C c.2264G>C (p.Cys755Ser) c.2780G>C (p.Cys927Ser) c.2677+2028G>C (n.2677+2028G>C) n.3103G>C n.2450+5667C>G n.2937G>C n.4187+5667C>G c.2144G>C (p.Cys715Ser) n.2908G>C | |
16 | g.50796456G>T | CA395886179 | CYLD,CYLD-AS2 | c.2819G>T (p.Cys940Phe) c.2810G>T (p.Cys937Phe) c.177+1986G>T c.2264G>T (p.Cys755Phe) c.2780G>T (p.Cys927Phe) c.2677+2028G>T (n.2677+2028G>T) n.3103G>T n.2450+5667C>A n.2937G>T n.4187+5667C>A c.2144G>T (p.Cys715Phe) n.2908G>T | |
16 | g.50796457T>A | CA395886182 | CYLD,CYLD-AS2 | c.2820T>A (p.Cys940Ter) c.2811T>A (p.Cys937Ter) c.177+1987T>A c.2265T>A (p.Cys755Ter) c.2781T>A (p.Cys927Ter) c.2677+2029T>A (n.2677+2029T>A) n.3104T>A n.2450+5666A>T n.2938T>A n.4187+5666A>T c.2145T>A (p.Cys715Ter) n.2909T>A | |
16 | g.50796457T>C | CA495466923 | CYLD,CYLD-AS2 | c.2820T>C (p.Cys940=) c.2811T>C (p.Cys937=) c.177+1987T>C c.2265T>C (p.Cys755=) c.2781T>C (p.Cys927=) c.2677+2029T>C (n.2677+2029T>C) n.3104T>C n.2450+5666A>G n.2938T>C n.4187+5666A>G c.2145T>C (p.Cys715=) n.2909T>C | |
16 | g.50796457T>G | CA395886183 | CYLD,CYLD-AS2 | c.2820T>G (p.Cys940Trp) c.2811T>G (p.Cys937Trp) c.177+1987T>G c.2265T>G (p.Cys755Trp) c.2781T>G (p.Cys927Trp) c.2677+2029T>G (n.2677+2029T>G) n.3104T>G n.2450+5666A>C n.2938T>G n.4187+5666A>C c.2145T>G (p.Cys715Trp) n.2909T>G | |
16 | g.50796458G>A | CA395886190 | CYLD,CYLD-AS2 | c.2821G>A (p.Asp941Asn) c.2812G>A (p.Asp938Asn) c.177+1988G>A c.2266G>A (p.Asp756Asn) c.2782G>A (p.Asp928Asn) c.2677+2030G>A (n.2677+2030G>A) n.3105G>A n.2450+5665C>T n.2939G>A n.4187+5665C>T c.2146G>A (p.Asp716Asn) n.2910G>A | dbSNP |
16 | g.50796458G>C | CA395886186 | CYLD,CYLD-AS2 | c.2821G>C (p.Asp941His) c.2812G>C (p.Asp938His) c.177+1988G>C c.2266G>C (p.Asp756His) c.2782G>C (p.Asp928His) c.2677+2030G>C (n.2677+2030G>C) n.3105G>C n.2450+5665C>G n.2939G>C n.4187+5665C>G c.2146G>C (p.Asp716His) n.2910G>C | |
16 | g.50796458G= | CA2221882545 | CYLD,CYLD-AS2 | c.2821G= (p.Asp941=) c.2812G= (p.Asp938=) c.177+1988G= c.2266G= (p.Asp756=) c.2782G= (p.Asp928=) c.2677+2030G= (n.2677+2030G=) n.3105G= n.2450+5665C= n.2939G= n.4187+5665C= c.2146G= (p.Asp716=) n.2910G= | |
16 | g.50796458G>T | CA395886188 | CYLD,CYLD-AS2 | c.2821G>T (p.Asp941Tyr) c.2812G>T (p.Asp938Tyr) c.177+1988G>T c.2266G>T (p.Asp756Tyr) c.2782G>T (p.Asp928Tyr) c.2677+2030G>T (n.2677+2030G>T) n.3105G>T n.2450+5665C>A n.2939G>T n.4187+5665C>A c.2146G>T (p.Asp716Tyr) n.2910G>T | |
16 | g.50796459A>C | CA395886193 | CYLD,CYLD-AS2 | c.2822A>C (p.Asp941Ala) c.2813A>C (p.Asp938Ala) c.177+1989A>C c.2267A>C (p.Asp756Ala) c.2783A>C (p.Asp928Ala) c.2677+2031A>C (n.2677+2031A>C) n.3106A>C n.2450+5664T>G n.2940A>C n.4187+5664T>G c.2147A>C (p.Asp716Ala) n.2911A>C | |
16 | g.50796459A>G | CA395886195 | CYLD,CYLD-AS2 | c.2822A>G (p.Asp941Gly) c.2813A>G (p.Asp938Gly) c.177+1989A>G c.2267A>G (p.Asp756Gly) c.2783A>G (p.Asp928Gly) c.2677+2031A>G (n.2677+2031A>G) n.3106A>G n.2450+5664T>C n.2940A>G n.4187+5664T>C c.2147A>G (p.Asp716Gly) n.2911A>G | |
16 | g.50796459A>T | CA395886197 | CYLD,CYLD-AS2 | c.2822A>T (p.Asp941Val) c.2813A>T (p.Asp938Val) c.177+1989A>T c.2267A>T (p.Asp756Val) c.2783A>T (p.Asp928Val) c.2677+2031A>T (n.2677+2031A>T) n.3106A>T n.2450+5664T>A n.2940A>T n.4187+5664T>A c.2147A>T (p.Asp716Val) n.2911A>T | |
16 | g.50796460T>A | CA395886199 | CYLD,CYLD-AS2 | c.2823T>A (p.Asp941Glu) c.2814T>A (p.Asp938Glu) c.177+1990T>A c.2268T>A (p.Asp756Glu) c.2784T>A (p.Asp928Glu) c.2677+2032T>A (n.2677+2032T>A) n.3107T>A n.2450+5663A>T n.2941T>A n.4187+5663A>T c.2148T>A (p.Asp716Glu) n.2912T>A | |
16 | g.50796460T>C | CA495466974 | CYLD,CYLD-AS2 | c.2823T>C (p.Asp941=) c.2814T>C (p.Asp938=) c.177+1990T>C c.2268T>C (p.Asp756=) c.2784T>C (p.Asp928=) c.2677+2032T>C (n.2677+2032T>C) n.3107T>C n.2450+5663A>G n.2941T>C n.4187+5663A>G c.2148T>C (p.Asp716=) n.2912T>C | gnomAD v4 |
16 | g.50796460T>G | CA395886201 | CYLD,CYLD-AS2 | c.2823T>G (p.Asp941Glu) c.2814T>G (p.Asp938Glu) c.177+1990T>G c.2268T>G (p.Asp756Glu) c.2784T>G (p.Asp928Glu) c.2677+2032T>G (n.2677+2032T>G) n.3107T>G n.2450+5663A>C n.2941T>G n.4187+5663A>C c.2148T>G (p.Asp716Glu) n.2912T>G | |
16 | g.50796461G>A | CA395886204 | CYLD,CYLD-AS2 | c.2824G>A (p.Ala942Thr) c.2815G>A (p.Ala939Thr) c.177+1991G>A c.2269G>A (p.Ala757Thr) c.2785G>A (p.Ala929Thr) c.2677+2033G>A (n.2677+2033G>A) n.3108G>A n.2450+5662C>T n.2942G>A n.4187+5662C>T c.2149G>A (p.Ala717Thr) n.2913G>A | dbSNP |
16 | g.50796461G>C | CA395886209 | CYLD,CYLD-AS2 | c.2824G>C (p.Ala942Pro) c.2815G>C (p.Ala939Pro) c.177+1991G>C c.2269G>C (p.Ala757Pro) c.2785G>C (p.Ala929Pro) c.2677+2033G>C (n.2677+2033G>C) n.3108G>C n.2450+5662C>G n.2942G>C n.4187+5662C>G c.2149G>C (p.Ala717Pro) n.2913G>C | |
16 | g.50796461G>T | CA395886206 | CYLD,CYLD-AS2 | c.2824G>T (p.Ala942Ser) c.2815G>T (p.Ala939Ser) c.177+1991G>T c.2269G>T (p.Ala757Ser) c.2785G>T (p.Ala929Ser) c.2677+2033G>T (n.2677+2033G>T) n.3108G>T n.2450+5662C>A n.2942G>T n.4187+5662C>A c.2149G>T (p.Ala717Ser) n.2913G>T | |
16 | g.50796462C>A | CA395886212 | CYLD,CYLD-AS2 | c.2825C>A (p.Ala942Glu) c.2816C>A (p.Ala939Glu) c.177+1992C>A c.2270C>A (p.Ala757Glu) c.2786C>A (p.Ala929Glu) c.2677+2034C>A (n.2677+2034C>A) n.3109C>A n.2450+5661G>T n.2943C>A n.4187+5661G>T c.2150C>A (p.Ala717Glu) n.2914C>A | |
16 | g.50796462C>G | CA395886216 | CYLD,CYLD-AS2 | c.2825C>G (p.Ala942Gly) c.2816C>G (p.Ala939Gly) c.177+1992C>G c.2270C>G (p.Ala757Gly) c.2786C>G (p.Ala929Gly) c.2677+2034C>G (n.2677+2034C>G) n.3109C>G n.2450+5661G>C n.2943C>G n.4187+5661G>C c.2150C>G (p.Ala717Gly) n.2914C>G | |
16 | g.50796462C>T | CA395886214 | CYLD,CYLD-AS2 | c.2825C>T (p.Ala942Val) c.2816C>T (p.Ala939Val) c.177+1992C>T c.2270C>T (p.Ala757Val) c.2786C>T (p.Ala929Val) c.2677+2034C>T (n.2677+2034C>T) n.3109C>T n.2450+5661G>A n.2943C>T n.4187+5661G>A c.2150C>T (p.Ala717Val) n.2914C>T | dbSNP |
16 | g.50796463A= | CA2221882547 | CYLD,CYLD-AS2 | c.2826A= (p.Ala942=) c.2817A= (p.Ala939=) c.177+1993A= c.2271A= (p.Ala757=) c.2787A= (p.Ala929=) c.2677+2035A= (n.2677+2035A=) n.3110A= n.2450+5660T= n.2944A= n.4187+5660T= c.2151A= (p.Ala717=) n.2915A= | |
16 | g.50796463A>C | CA495466997 | CYLD,CYLD-AS2 | c.2826A>C (p.Ala942=) c.2817A>C (p.Ala939=) c.177+1993A>C c.2271A>C (p.Ala757=) c.2787A>C (p.Ala929=) c.2677+2035A>C (n.2677+2035A>C) n.3110A>C n.2450+5660T>G n.2944A>C n.4187+5660T>G c.2151A>C (p.Ala717=) n.2915A>C | |
16 | g.50796463A>G | CA495466999 | CYLD,CYLD-AS2 | c.2826A>G (p.Ala942=) c.2817A>G (p.Ala939=) c.177+1993A>G c.2271A>G (p.Ala757=) c.2787A>G (p.Ala929=) c.2677+2035A>G (n.2677+2035A>G) n.3110A>G n.2450+5660T>C n.2944A>G n.4187+5660T>C c.2151A>G (p.Ala717=) n.2915A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50796463A>T | CA495467005 | CYLD,CYLD-AS2 | c.2826A>T (p.Ala942=) c.2817A>T (p.Ala939=) c.177+1993A>T c.2271A>T (p.Ala757=) c.2787A>T (p.Ala929=) c.2677+2035A>T (n.2677+2035A>T) n.3110A>T n.2450+5660T>A n.2944A>T n.4187+5660T>A c.2151A>T (p.Ala717=) n.2915A>T | |
16 | g.50796464T>A | CA395886219 | CYLD,CYLD-AS2 | c.2827T>A (p.Tyr943Asn) c.2818T>A (p.Tyr940Asn) c.177+1994T>A c.2272T>A (p.Tyr758Asn) c.2788T>A (p.Tyr930Asn) c.2677+2036T>A (n.2677+2036T>A) n.3111T>A n.2450+5659A>T n.2945T>A n.4187+5659A>T c.2152T>A (p.Tyr718Asn) n.2916T>A | gnomAD v4 |
16 | g.50796464T>C | CA395886223 | CYLD,CYLD-AS2 | c.2827T>C (p.Tyr943His) c.2818T>C (p.Tyr940His) c.177+1994T>C c.2272T>C (p.Tyr758His) c.2788T>C (p.Tyr930His) c.2677+2036T>C (n.2677+2036T>C) n.3111T>C n.2450+5659A>G n.2945T>C n.4187+5659A>G c.2152T>C (p.Tyr718His) n.2916T>C | |
16 | g.50796464T>G | CA395886221 | CYLD,CYLD-AS2 | c.2827T>G (p.Tyr943Asp) c.2818T>G (p.Tyr940Asp) c.177+1994T>G c.2272T>G (p.Tyr758Asp) c.2788T>G (p.Tyr930Asp) c.2677+2036T>G (n.2677+2036T>G) n.3111T>G n.2450+5659A>C n.2945T>G n.4187+5659A>C c.2152T>G (p.Tyr718Asp) n.2916T>G | |
16 | g.50796465A= | CA2221882551 | CYLD,CYLD-AS2 | c.2828A= (p.Tyr943=) c.2819A= (p.Tyr940=) c.177+1995A= c.2273A= (p.Tyr758=) c.2789A= (p.Tyr930=) c.2677+2037A= (n.2677+2037A=) n.3112A= n.2450+5658T= n.2946A= n.4187+5658T= c.2153A= (p.Tyr718=) n.2917A= | |
16 | g.50796465A>C | CA395886226 | CYLD,CYLD-AS2 | c.2828A>C (p.Tyr943Ser) c.2819A>C (p.Tyr940Ser) c.177+1995A>C c.2273A>C (p.Tyr758Ser) c.2789A>C (p.Tyr930Ser) c.2677+2037A>C (n.2677+2037A>C) n.3112A>C n.2450+5658T>G n.2946A>C n.4187+5658T>G c.2153A>C (p.Tyr718Ser) n.2917A>C | |
16 | g.50796465A>G | CA395886228 | CYLD,CYLD-AS2 | c.2828A>G (p.Tyr943Cys) c.2819A>G (p.Tyr940Cys) c.177+1995A>G c.2273A>G (p.Tyr758Cys) c.2789A>G (p.Tyr930Cys) c.2677+2037A>G (n.2677+2037A>G) n.3112A>G n.2450+5658T>C n.2946A>G n.4187+5658T>C c.2153A>G (p.Tyr718Cys) n.2917A>G | dbSNP |
16 | g.50796465A>T | CA395886230 | CYLD,CYLD-AS2 | c.2828A>T (p.Tyr943Phe) c.2819A>T (p.Tyr940Phe) c.177+1995A>T c.2273A>T (p.Tyr758Phe) c.2789A>T (p.Tyr930Phe) c.2677+2037A>T (n.2677+2037A>T) n.3112A>T n.2450+5658T>A n.2946A>T n.4187+5658T>A c.2153A>T (p.Tyr718Phe) n.2917A>T | |
16 | g.50796466T>A | CA395886233 | CYLD,CYLD-AS2 | c.2829T>A (p.Tyr943Ter) c.2820T>A (p.Tyr940Ter) c.177+1996T>A c.2274T>A (p.Tyr758Ter) c.2790T>A (p.Tyr930Ter) c.2677+2038T>A (n.2677+2038T>A) n.3113T>A n.2450+5657A>T n.2947T>A n.4187+5657A>T c.2154T>A (p.Tyr718Ter) n.2918T>A | COSMIC |
16 | g.50796466T>C | CA495467018 | CYLD,CYLD-AS2 | c.2829T>C (p.Tyr943=) c.2820T>C (p.Tyr940=) c.177+1996T>C c.2274T>C (p.Tyr758=) c.2790T>C (p.Tyr930=) c.2677+2038T>C (n.2677+2038T>C) n.3113T>C n.2450+5657A>G n.2947T>C n.4187+5657A>G c.2154T>C (p.Tyr718=) n.2918T>C | |
16 | g.50796466T>G | CA395886236 | CYLD,CYLD-AS2 | c.2829T>G (p.Tyr943Ter) c.2820T>G (p.Tyr940Ter) c.177+1996T>G c.2274T>G (p.Tyr758Ter) c.2790T>G (p.Tyr930Ter) c.2677+2038T>G (n.2677+2038T>G) n.3113T>G n.2450+5657A>C n.2947T>G n.4187+5657A>C c.2154T>G (p.Tyr718Ter) n.2918T>G | |
16 | g.50796467A>C | CA395886242 | CYLD,CYLD-AS2 | c.2830A>C (p.Met944Leu) c.2821A>C (p.Met941Leu) c.177+1997A>C c.2275A>C (p.Met759Leu) c.2791A>C (p.Met931Leu) c.2677+2039A>C (n.2677+2039A>C) n.3114A>C n.2450+5656T>G n.2948A>C n.4187+5656T>G c.2155A>C (p.Met719Leu) n.2919A>C | |
16 | g.50796467A>G | CA395886240 | CYLD,CYLD-AS2 | c.2830A>G (p.Met944Val) c.2821A>G (p.Met941Val) c.177+1997A>G c.2275A>G (p.Met759Val) c.2791A>G (p.Met931Val) c.2677+2039A>G (n.2677+2039A>G) n.3114A>G n.2450+5656T>C n.2948A>G n.4187+5656T>C c.2155A>G (p.Met719Val) n.2919A>G | |
16 | g.50796467A>T | CA395886239 | CYLD,CYLD-AS2 | c.2830A>T (p.Met944Leu) c.2821A>T (p.Met941Leu) c.177+1997A>T c.2275A>T (p.Met759Leu) c.2791A>T (p.Met931Leu) c.2677+2039A>T (n.2677+2039A>T) n.3114A>T n.2450+5656T>A n.2948A>T n.4187+5656T>A c.2155A>T (p.Met719Leu) n.2919A>T | |
16 | g.50796468del | CA2573331811 | CYLD,CYLD-AS2 | c.2831del (p.Met944SerfsTer9) c.2822del (p.Met941SerfsTer9) c.177+1998del c.2276del (p.Met759SerfsTer9) c.2792del (p.Met931SerfsTer9) c.2677+2040del (n.2677+2040del) n.3115del n.2450+5655del n.2949del n.4187+5655del c.2156del (p.Met719SerfsTer9) n.2920del | |
16 | g.50796468T>A | CA395886245 | CYLD,CYLD-AS2 | c.2831T>A (p.Met944Lys) c.2822T>A (p.Met941Lys) c.177+1998T>A c.2276T>A (p.Met759Lys) c.2792T>A (p.Met931Lys) c.2677+2040T>A (n.2677+2040T>A) n.3115T>A n.2450+5655A>T n.2949T>A n.4187+5655A>T c.2156T>A (p.Met719Lys) n.2920T>A | |
16 | g.50796468T>C | CA395886246 | CYLD,CYLD-AS2 | c.2831T>C (p.Met944Thr) c.2822T>C (p.Met941Thr) c.177+1998T>C c.2276T>C (p.Met759Thr) c.2792T>C (p.Met931Thr) c.2677+2040T>C (n.2677+2040T>C) n.3115T>C n.2450+5655A>G n.2949T>C n.4187+5655A>G c.2156T>C (p.Met719Thr) n.2920T>C | gnomAD v4 |
16 | g.50796468T>G | CA395886249 | CYLD,CYLD-AS2 | c.2831T>G (p.Met944Arg) c.2822T>G (p.Met941Arg) c.177+1998T>G c.2276T>G (p.Met759Arg) c.2792T>G (p.Met931Arg) c.2677+2040T>G (n.2677+2040T>G) n.3115T>G n.2450+5655A>C n.2949T>G n.4187+5655A>C c.2156T>G (p.Met719Arg) n.2920T>G | |
16 | g.50796469G>A | CA395886253 | CYLD,CYLD-AS2 | c.2832G>A (p.Met944Ile) c.2823G>A (p.Met941Ile) c.177+1999G>A c.2277G>A (p.Met759Ile) c.2793G>A (p.Met931Ile) c.2677+2041G>A (n.2677+2041G>A) n.3116G>A n.2450+5654C>T n.2950G>A n.4187+5654C>T c.2157G>A (p.Met719Ile) n.2921G>A | gnomAD v4 |
16 | g.50796469G>C | CA395886260 | CYLD,CYLD-AS2 | c.2832G>C (p.Met944Ile) c.2823G>C (p.Met941Ile) c.177+1999G>C c.2277G>C (p.Met759Ile) c.2793G>C (p.Met931Ile) c.2677+2041G>C (n.2677+2041G>C) n.3116G>C n.2450+5654C>G n.2950G>C n.4187+5654C>G c.2157G>C (p.Met719Ile) n.2921G>C | dbSNP |
16 | g.50796469G= | CA2221882554 | CYLD,CYLD-AS2 | c.2832G= (p.Met944=) c.2823G= (p.Met941=) c.177+1999G= c.2277G= (p.Met759=) c.2793G= (p.Met931=) c.2677+2041G= (n.2677+2041G=) n.3116G= n.2450+5654C= n.2950G= n.4187+5654C= c.2157G= (p.Met719=) n.2921G= | |
16 | g.50796469G>T | CA395886262 | CYLD,CYLD-AS2 | c.2832G>T (p.Met944Ile) c.2823G>T (p.Met941Ile) c.177+1999G>T c.2277G>T (p.Met759Ile) c.2793G>T (p.Met931Ile) c.2677+2041G>T (n.2677+2041G>T) n.3116G>T n.2450+5654C>A n.2950G>T n.4187+5654C>A c.2157G>T (p.Met719Ile) n.2921G>T | |
16 | g.50796470T>A | CA395886265 | CYLD,CYLD-AS2 | c.2833T>A (p.Cys945Ser) c.2824T>A (p.Cys942Ser) c.177+2000T>A c.2278T>A (p.Cys760Ser) c.2794T>A (p.Cys932Ser) c.2677+2042T>A (n.2677+2042T>A) n.3117T>A n.2450+5653A>T n.2951T>A n.4187+5653A>T c.2158T>A (p.Cys720Ser) n.2922T>A | |
16 | g.50796470T>C | CA395886269 | CYLD,CYLD-AS2 | c.2833T>C (p.Cys945Arg) c.2824T>C (p.Cys942Arg) c.177+2000T>C c.2278T>C (p.Cys760Arg) c.2794T>C (p.Cys932Arg) c.2677+2042T>C (n.2677+2042T>C) n.3117T>C n.2450+5653A>G n.2951T>C n.4187+5653A>G c.2158T>C (p.Cys720Arg) n.2922T>C | COSMIC COSMIC |
16 | g.50796470T>G | CA395886267 | CYLD,CYLD-AS2 | c.2833T>G (p.Cys945Gly) c.2824T>G (p.Cys942Gly) c.177+2000T>G c.2278T>G (p.Cys760Gly) c.2794T>G (p.Cys932Gly) c.2677+2042T>G (n.2677+2042T>G) n.3117T>G n.2450+5653A>C n.2951T>G n.4187+5653A>C c.2158T>G (p.Cys720Gly) n.2922T>G | |
16 | g.50796471G>A | CA395886273 | CYLD,CYLD-AS2 | c.2834G>A (p.Cys945Tyr) c.2825G>A (p.Cys942Tyr) c.177+2001G>A c.2279G>A (p.Cys760Tyr) c.2795G>A (p.Cys932Tyr) c.2677+2043G>A (n.2677+2043G>A) n.3118G>A n.2450+5652C>T n.2952G>A n.4187+5652C>T c.2159G>A (p.Cys720Tyr) n.2923G>A | |
16 | g.50796471G>C | CA395886276 | CYLD,CYLD-AS2 | c.2834G>C (p.Cys945Ser) c.2825G>C (p.Cys942Ser) c.177+2001G>C c.2279G>C (p.Cys760Ser) c.2795G>C (p.Cys932Ser) c.2677+2043G>C (n.2677+2043G>C) n.3118G>C n.2450+5652C>G n.2952G>C n.4187+5652C>G c.2159G>C (p.Cys720Ser) n.2923G>C | |
16 | g.50796471G>T | CA395886278 | CYLD,CYLD-AS2 | c.2834G>T (p.Cys945Phe) c.2825G>T (p.Cys942Phe) c.177+2001G>T c.2279G>T (p.Cys760Phe) c.2795G>T (p.Cys932Phe) c.2677+2043G>T (n.2677+2043G>T) n.3118G>T n.2450+5652C>A n.2952G>T n.4187+5652C>A c.2159G>T (p.Cys720Phe) n.2923G>T | |
16 | g.50796472C>A | CA395886280 | CYLD,CYLD-AS2 | c.2835C>A (p.Cys945Ter) c.2826C>A (p.Cys942Ter) c.177+2002C>A c.2280C>A (p.Cys760Ter) c.2796C>A (p.Cys932Ter) c.2677+2044C>A (n.2677+2044C>A) n.3119C>A n.2450+5651G>T n.2953C>A n.4187+5651G>T c.2160C>A (p.Cys720Ter) n.2924C>A | |
16 | g.50796472C>G | CA395886282 | CYLD,CYLD-AS2 | c.2835C>G (p.Cys945Trp) c.2826C>G (p.Cys942Trp) c.177+2002C>G c.2280C>G (p.Cys760Trp) c.2796C>G (p.Cys932Trp) c.2677+2044C>G (n.2677+2044C>G) n.3119C>G n.2450+5651G>C n.2953C>G n.4187+5651G>C c.2160C>G (p.Cys720Trp) n.2924C>G | |
16 | g.50796472C>T | CA495467080 | CYLD,CYLD-AS2 | c.2835C>T (p.Cys945=) c.2826C>T (p.Cys942=) c.177+2002C>T c.2280C>T (p.Cys760=) c.2796C>T (p.Cys932=) c.2677+2044C>T (n.2677+2044C>T) n.3119C>T n.2450+5651G>A n.2953C>T n.4187+5651G>A c.2160C>T (p.Cys720=) n.2924C>T | dbSNP |
16 | g.50796473A= | CA2221882558 | CYLD,CYLD-AS2 | c.2836A= (p.Met946=) c.2827A= (p.Met943=) c.177+2003A= c.2281A= (p.Met761=) c.2797A= (p.Met933=) c.2677+2045A= (n.2677+2045A=) n.3120A= n.2450+5650T= n.2954A= n.4187+5650T= c.2161A= (p.Met721=) n.2925A= | |
16 | g.50796473A>C | CA395886284 | CYLD,CYLD-AS2 | c.2836A>C (p.Met946Leu) c.2827A>C (p.Met943Leu) c.177+2003A>C c.2281A>C (p.Met761Leu) c.2797A>C (p.Met933Leu) c.2677+2045A>C (n.2677+2045A>C) n.3120A>C n.2450+5650T>G n.2954A>C n.4187+5650T>G c.2161A>C (p.Met721Leu) n.2925A>C | |
16 | g.50796473A>G | CA8052725 | CYLD,CYLD-AS2 | c.2836A>G (p.Met946Val) c.2827A>G (p.Met943Val) c.177+2003A>G c.2281A>G (p.Met761Val) c.2797A>G (p.Met933Val) c.2677+2045A>G (n.2677+2045A>G) n.3120A>G n.2450+5650T>C n.2954A>G n.4187+5650T>C c.2161A>G (p.Met721Val) n.2925A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50796473A>T | CA395886287 | CYLD,CYLD-AS2 | c.2836A>T (p.Met946Leu) c.2827A>T (p.Met943Leu) c.177+2003A>T c.2281A>T (p.Met761Leu) c.2797A>T (p.Met933Leu) c.2677+2045A>T (n.2677+2045A>T) n.3120A>T n.2450+5650T>A n.2954A>T n.4187+5650T>A c.2161A>T (p.Met721Leu) n.2925A>T | |
16 | g.50796474T>A | CA395886290 | CYLD,CYLD-AS2 | c.2837T>A (p.Met946Lys) c.2828T>A (p.Met943Lys) c.177+2004T>A c.2282T>A (p.Met761Lys) c.2798T>A (p.Met933Lys) c.2677+2046T>A (n.2677+2046T>A) n.3121T>A n.2450+5649A>T n.2955T>A n.4187+5649A>T c.2162T>A (p.Met721Lys) n.2926T>A | |
16 | g.50796474T>C | CA395886292 | CYLD,CYLD-AS2 | c.2837T>C (p.Met946Thr) c.2828T>C (p.Met943Thr) c.177+2004T>C c.2282T>C (p.Met761Thr) c.2798T>C (p.Met933Thr) c.2677+2046T>C (n.2677+2046T>C) n.3121T>C n.2450+5649A>G n.2955T>C n.4187+5649A>G c.2162T>C (p.Met721Thr) n.2926T>C | |
16 | g.50796474T>G | CA395886295 | CYLD,CYLD-AS2 | c.2837T>G (p.Met946Arg) c.2828T>G (p.Met943Arg) c.177+2004T>G c.2282T>G (p.Met761Arg) c.2798T>G (p.Met933Arg) c.2677+2046T>G (n.2677+2046T>G) n.3121T>G n.2450+5649A>C n.2955T>G n.4187+5649A>C c.2162T>G (p.Met721Arg) n.2926T>G | |
16 | g.50796475G>A | CA395886298 | CYLD,CYLD-AS2 | c.2838G>A (p.Met946Ile) c.2829G>A (p.Met943Ile) c.177+2005G>A c.2283G>A (p.Met761Ile) c.2799G>A (p.Met933Ile) c.2677+2047G>A (n.2677+2047G>A) n.3122G>A n.2450+5648C>T n.2956G>A n.4187+5648C>T c.2163G>A (p.Met721Ile) n.2927G>A | dbSNP |
16 | g.50796475G>C | CA395886302 | CYLD,CYLD-AS2 | c.2838G>C (p.Met946Ile) c.2829G>C (p.Met943Ile) c.177+2005G>C c.2283G>C (p.Met761Ile) c.2799G>C (p.Met933Ile) c.2677+2047G>C (n.2677+2047G>C) n.3122G>C n.2450+5648C>G n.2956G>C n.4187+5648C>G c.2163G>C (p.Met721Ile) n.2927G>C | |
16 | g.50796475G>T | CA395886300 | CYLD,CYLD-AS2 | c.2838G>T (p.Met946Ile) c.2829G>T (p.Met943Ile) c.177+2005G>T c.2283G>T (p.Met761Ile) c.2799G>T (p.Met933Ile) c.2677+2047G>T (n.2677+2047G>T) n.3122G>T n.2450+5648C>A n.2956G>T n.4187+5648C>A c.2163G>T (p.Met721Ile) n.2927G>T | |
16 | g.50796476T>A | CA395886304 | CYLD,CYLD-AS2 | c.2839T>A (p.Tyr947Asn) c.2830T>A (p.Tyr944Asn) c.177+2006T>A c.2284T>A (p.Tyr762Asn) c.2800T>A (p.Tyr934Asn) c.2677+2048T>A (n.2677+2048T>A) n.3123T>A n.2450+5647A>T n.2957T>A n.4187+5647A>T c.2164T>A (p.Tyr722Asn) n.2928T>A | |
16 | g.50796476T>C | CA395886306 | CYLD,CYLD-AS2 | c.2839T>C (p.Tyr947His) c.2830T>C (p.Tyr944His) c.177+2006T>C c.2284T>C (p.Tyr762His) c.2800T>C (p.Tyr934His) c.2677+2048T>C (n.2677+2048T>C) n.3123T>C n.2450+5647A>G n.2957T>C n.4187+5647A>G c.2164T>C (p.Tyr722His) n.2928T>C | |
16 | g.50796476T>G | CA395886308 | CYLD,CYLD-AS2 | c.2839T>G (p.Tyr947Asp) c.2830T>G (p.Tyr944Asp) c.177+2006T>G c.2284T>G (p.Tyr762Asp) c.2800T>G (p.Tyr934Asp) c.2677+2048T>G (n.2677+2048T>G) n.3123T>G n.2450+5647A>C n.2957T>G n.4187+5647A>C c.2164T>G (p.Tyr722Asp) n.2928T>G | |
16 | g.50796477A>C | CA395886310 | CYLD,CYLD-AS2 | c.2840A>C (p.Tyr947Ser) c.2831A>C (p.Tyr944Ser) c.177+2007A>C c.2285A>C (p.Tyr762Ser) c.2801A>C (p.Tyr934Ser) c.2677+2049A>C (n.2677+2049A>C) n.3124A>C n.2450+5646T>G n.2958A>C n.4187+5646T>G c.2165A>C (p.Tyr722Ser) n.2929A>C | |
16 | g.50796477A>G | CA395886312 | CYLD,CYLD-AS2 | c.2840A>G (p.Tyr947Cys) c.2831A>G (p.Tyr944Cys) c.177+2007A>G c.2285A>G (p.Tyr762Cys) c.2801A>G (p.Tyr934Cys) c.2677+2049A>G (n.2677+2049A>G) n.3124A>G n.2450+5646T>C n.2958A>G n.4187+5646T>C c.2165A>G (p.Tyr722Cys) n.2929A>G | |
16 | g.50796477A>T | CA395886314 | CYLD,CYLD-AS2 | c.2840A>T (p.Tyr947Phe) c.2831A>T (p.Tyr944Phe) c.177+2007A>T c.2285A>T (p.Tyr762Phe) c.2801A>T (p.Tyr934Phe) c.2677+2049A>T (n.2677+2049A>T) n.3124A>T n.2450+5646T>A n.2958A>T n.4187+5646T>A c.2165A>T (p.Tyr722Phe) n.2929A>T | |
16 | g.50796478C>A | CA395886317 | CYLD,CYLD-AS2 | c.2841C>A (p.Tyr947Ter) c.2832C>A (p.Tyr944Ter) c.177+2008C>A c.2286C>A (p.Tyr762Ter) c.2802C>A (p.Tyr934Ter) c.2677+2050C>A (n.2677+2050C>A) n.3125C>A n.2450+5645G>T n.2959C>A n.4187+5645G>T c.2166C>A (p.Tyr722Ter) n.2930C>A | |
16 | g.50796478C>G | CA395886319 | CYLD,CYLD-AS2 | c.2841C>G (p.Tyr947Ter) c.2832C>G (p.Tyr944Ter) c.177+2008C>G c.2286C>G (p.Tyr762Ter) c.2802C>G (p.Tyr934Ter) c.2677+2050C>G (n.2677+2050C>G) n.3125C>G n.2450+5645G>C n.2959C>G n.4187+5645G>C c.2166C>G (p.Tyr722Ter) n.2930C>G | |
16 | g.50796478C>T | CA495467116 | CYLD,CYLD-AS2 | c.2841C>T (p.Tyr947=) c.2832C>T (p.Tyr944=) c.177+2008C>T c.2286C>T (p.Tyr762=) c.2802C>T (p.Tyr934=) c.2677+2050C>T (n.2677+2050C>T) n.3125C>T n.2450+5645G>A n.2959C>T n.4187+5645G>A c.2166C>T (p.Tyr722=) n.2930C>T | gnomAD v4 |
16 | g.50796479C>A | CA395886322 | CYLD,CYLD-AS2 | c.2842C>A (p.Gln948Lys) c.2833C>A (p.Gln945Lys) c.177+2009C>A c.2287C>A (p.Gln763Lys) c.2803C>A (p.Gln935Lys) c.2677+2051C>A (n.2677+2051C>A) n.3126C>A n.2450+5644G>T n.2960C>A n.4187+5644G>T c.2167C>A (p.Gln723Lys) n.2931C>A | |
16 | g.50796479C>G | CA395886324 | CYLD,CYLD-AS2 | c.2842C>G (p.Gln948Glu) c.2833C>G (p.Gln945Glu) c.177+2009C>G c.2287C>G (p.Gln763Glu) c.2803C>G (p.Gln935Glu) c.2677+2051C>G (n.2677+2051C>G) n.3126C>G n.2450+5644G>C n.2960C>G n.4187+5644G>C c.2167C>G (p.Gln723Glu) n.2931C>G | |
16 | g.50796479C>T | CA395886327 | CYLD,CYLD-AS2 | c.2842C>T (p.Gln948Ter) c.2833C>T (p.Gln945Ter) c.177+2009C>T c.2287C>T (p.Gln763Ter) c.2803C>T (p.Gln935Ter) c.2677+2051C>T (n.2677+2051C>T) n.3126C>T n.2450+5644G>A n.2960C>T n.4187+5644G>A c.2167C>T (p.Gln723Ter) n.2931C>T | |
16 | g.50796480A>C | CA395886335 | CYLD,CYLD-AS2 | c.2843A>C (p.Gln948Pro) c.2834A>C (p.Gln945Pro) c.177+2010A>C c.2288A>C (p.Gln763Pro) c.2804A>C (p.Gln935Pro) c.2677+2052A>C (n.2677+2052A>C) n.3127A>C n.2450+5643T>G n.2961A>C n.4187+5643T>G c.2168A>C (p.Gln723Pro) n.2932A>C | |
16 | g.50796480A>G | CA395886331 | CYLD,CYLD-AS2 | c.2843A>G (p.Gln948Arg) c.2834A>G (p.Gln945Arg) c.177+2010A>G c.2288A>G (p.Gln763Arg) c.2804A>G (p.Gln935Arg) c.2677+2052A>G (n.2677+2052A>G) n.3127A>G n.2450+5643T>C n.2961A>G n.4187+5643T>C c.2168A>G (p.Gln723Arg) n.2932A>G | gnomAD v4 |
16 | g.50796480A>T | CA395886333 | CYLD,CYLD-AS2 | c.2843A>T (p.Gln948Leu) c.2834A>T (p.Gln945Leu) c.177+2010A>T c.2288A>T (p.Gln763Leu) c.2804A>T (p.Gln935Leu) c.2677+2052A>T (n.2677+2052A>T) n.3127A>T n.2450+5643T>A n.2961A>T n.4187+5643T>A c.2168A>T (p.Gln723Leu) n.2932A>T | |
16 | g.50796481G>A | CA495467127 | CYLD,CYLD-AS2 | c.2844G>A (p.Gln948=) c.2835G>A (p.Gln945=) c.177+2011G>A c.2289G>A (p.Gln763=) c.2805G>A (p.Gln935=) c.2677+2053G>A (n.2677+2053G>A) n.3128G>A n.2450+5642C>T n.2962G>A n.4187+5642C>T c.2169G>A (p.Gln723=) n.2933G>A | |
16 | g.50796481G>C | CA8052726 | CYLD,CYLD-AS2 | c.2844G>C (p.Gln948His) c.2835G>C (p.Gln945His) c.177+2011G>C c.2289G>C (p.Gln763His) c.2805G>C (p.Gln935His) c.2677+2053G>C (n.2677+2053G>C) n.3128G>C n.2450+5642C>G n.2962G>C n.4187+5642C>G c.2169G>C (p.Gln723His) n.2933G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50796481G= | CA2221882562 | CYLD,CYLD-AS2 | c.2844G= (p.Gln948=) c.2835G= (p.Gln945=) c.177+2011G= c.2289G= (p.Gln763=) c.2805G= (p.Gln935=) c.2677+2053G= (n.2677+2053G=) n.3128G= n.2450+5642C= n.2962G= n.4187+5642C= c.2169G= (p.Gln723=) n.2933G= | |
16 | g.50796481G>T | CA8052727 | CYLD,CYLD-AS2 | c.2844G>T (p.Gln948His) c.2835G>T (p.Gln945His) c.177+2011G>T c.2289G>T (p.Gln763His) c.2805G>T (p.Gln935His) c.2677+2053G>T (n.2677+2053G>T) n.3128G>T n.2450+5642C>A n.2962G>T n.4187+5642C>A c.2169G>T (p.Gln723His) n.2933G>T | ClinVar dbSNP ExAC |
16 | g.50796482A= | CA2221882567 | CYLD,CYLD-AS2 | c.2845A= (p.Ser949=) c.2836A= (p.Ser946=) c.177+2012A= c.2290A= (p.Ser764=) c.2806A= (p.Ser936=) c.2677+2054A= (n.2677+2054A=) n.3129A= n.2450+5641T= n.2963A= n.4187+5641T= c.2170A= (p.Ser724=) n.2934A= | |
16 | g.50796482A>C | CA395886341 | CYLD,CYLD-AS2 | c.2845A>C (p.Ser949Arg) c.2836A>C (p.Ser946Arg) c.177+2012A>C c.2290A>C (p.Ser764Arg) c.2806A>C (p.Ser936Arg) c.2677+2054A>C (n.2677+2054A>C) n.3129A>C n.2450+5641T>G n.2963A>C n.4187+5641T>G c.2170A>C (p.Ser724Arg) n.2934A>C | |
16 | g.50796482A>G | CA395886342 | CYLD,CYLD-AS2 | c.2845A>G (p.Ser949Gly) c.2836A>G (p.Ser946Gly) c.177+2012A>G c.2290A>G (p.Ser764Gly) c.2806A>G (p.Ser936Gly) c.2677+2054A>G (n.2677+2054A>G) n.3129A>G n.2450+5641T>C n.2963A>G n.4187+5641T>C c.2170A>G (p.Ser724Gly) n.2934A>G | |
16 | g.50796482A>T | CA395886345 | CYLD,CYLD-AS2 | c.2845A>T (p.Ser949Cys) c.2836A>T (p.Ser946Cys) c.177+2012A>T c.2290A>T (p.Ser764Cys) c.2806A>T (p.Ser936Cys) c.2677+2054A>T (n.2677+2054A>T) n.3129A>T n.2450+5641T>A n.2963A>T n.4187+5641T>A c.2170A>T (p.Ser724Cys) n.2934A>T | |
16 | g.50796483G>A | CA395886349 | CYLD,CYLD-AS2 | c.2846G>A (p.Ser949Asn) c.2837G>A (p.Ser946Asn) c.177+2013G>A c.2291G>A (p.Ser764Asn) c.2807G>A (p.Ser936Asn) c.2677+2055G>A (n.2677+2055G>A) n.3130G>A n.2450+5640C>T n.2964G>A n.4187+5640C>T c.2171G>A (p.Ser724Asn) n.2935G>A | |
16 | g.50796483G>C | CA395886351 | CYLD,CYLD-AS2 | c.2846G>C (p.Ser949Thr) c.2837G>C (p.Ser946Thr) c.177+2013G>C c.2291G>C (p.Ser764Thr) c.2807G>C (p.Ser936Thr) c.2677+2055G>C (n.2677+2055G>C) n.3130G>C n.2450+5640C>G n.2964G>C n.4187+5640C>G c.2171G>C (p.Ser724Thr) n.2935G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50796483G= | CA2221882571 | CYLD,CYLD-AS2 | c.2846G= (p.Ser949=) c.2837G= (p.Ser946=) c.177+2013G= c.2291G= (p.Ser764=) c.2807G= (p.Ser936=) c.2677+2055G= (n.2677+2055G=) n.3130G= n.2450+5640C= n.2964G= n.4187+5640C= c.2171G= (p.Ser724=) n.2935G= | |
16 | g.50796483G>T | CA395886353 | CYLD,CYLD-AS2 | c.2846G>T (p.Ser949Ile) c.2837G>T (p.Ser946Ile) c.177+2013G>T c.2291G>T (p.Ser764Ile) c.2807G>T (p.Ser936Ile) c.2677+2055G>T (n.2677+2055G>T) n.3130G>T n.2450+5640C>A n.2964G>T n.4187+5640C>A c.2171G>T (p.Ser724Ile) n.2935G>T | |
16 | g.50796483_50796527dup | CA622654428 | CYLD,CYLD-AS2 | c.2846_*19dup (n.2846_*19dup) c.2837_*19dup (n.2837_*19dup) c.177+2013_177+2057dup c.2291_*19dup (n.2291_*19dup) c.2807_*19dup (n.2807_*19dup) c.2677+2055_2677+2099dup (n.2677+2055_2677+2099dup) n.3130_3174dup n.2450+5596_2450+5640dup n.2964_3008dup n.4187+5596_4187+5640dup c.2171_*19dup (n.2171_*19dup) n.2935_2979dup | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50796484T>A | CA395886356 | CYLD,CYLD-AS2 | c.2847T>A (p.Ser949Arg) c.2838T>A (p.Ser946Arg) c.177+2014T>A c.2292T>A (p.Ser764Arg) c.2808T>A (p.Ser936Arg) c.2677+2056T>A (n.2677+2056T>A) n.3131T>A n.2450+5639A>T n.2965T>A n.4187+5639A>T c.2172T>A (p.Ser724Arg) n.2936T>A | dbSNP |
16 | g.50796484T>C | CA8052728 | CYLD,CYLD-AS2 | c.2847T>C (p.Ser949=) c.2838T>C (p.Ser946=) c.177+2014T>C c.2292T>C (p.Ser764=) c.2808T>C (p.Ser936=) c.2677+2056T>C (n.2677+2056T>C) n.3131T>C n.2450+5639A>G n.2965T>C n.4187+5639A>G c.2172T>C (p.Ser724=) n.2936T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50796484T>G | CA395886359 | CYLD,CYLD-AS2 | c.2847T>G (p.Ser949Arg) c.2838T>G (p.Ser946Arg) c.177+2014T>G c.2292T>G (p.Ser764Arg) c.2808T>G (p.Ser936Arg) c.2677+2056T>G (n.2677+2056T>G) n.3131T>G n.2450+5639A>C n.2965T>G n.4187+5639A>C c.2172T>G (p.Ser724Arg) n.2936T>G | |
16 | g.50796484T= | CA2221882575 | CYLD,CYLD-AS2 | c.2847T= (p.Ser949=) c.2838T= (p.Ser946=) c.177+2014T= c.2292T= (p.Ser764=) c.2808T= (p.Ser936=) c.2677+2056T= (n.2677+2056T=) n.3131T= n.2450+5639A= n.2965T= n.4187+5639A= c.2172T= (p.Ser724=) n.2936T= | |
16 | g.50796485C>A | CA395886365 | CYLD,CYLD-AS2 | c.2848C>A (p.Pro950Thr) c.2839C>A (p.Pro947Thr) c.177+2015C>A c.2293C>A (p.Pro765Thr) c.2809C>A (p.Pro937Thr) c.2677+2057C>A (n.2677+2057C>A) n.3132C>A n.2450+5638G>T n.2966C>A n.4187+5638G>T c.2173C>A (p.Pro725Thr) n.2937C>A | |
16 | g.50796485C>G | CA395886367 | CYLD,CYLD-AS2 | c.2848C>G (p.Pro950Ala) c.2839C>G (p.Pro947Ala) c.177+2015C>G c.2293C>G (p.Pro765Ala) c.2809C>G (p.Pro937Ala) c.2677+2057C>G (n.2677+2057C>G) n.3132C>G n.2450+5638G>C n.2966C>G n.4187+5638G>C c.2173C>G (p.Pro725Ala) n.2937C>G | |
16 | g.50796485C>T | CA395886363 | CYLD,CYLD-AS2 | c.2848C>T (p.Pro950Ser) c.2839C>T (p.Pro947Ser) c.177+2015C>T c.2293C>T (p.Pro765Ser) c.2809C>T (p.Pro937Ser) c.2677+2057C>T (n.2677+2057C>T) n.3132C>T n.2450+5638G>A n.2966C>T n.4187+5638G>A c.2173C>T (p.Pro725Ser) n.2937C>T | |
16 | g.50796486C>A | CA395886375 | CYLD,CYLD-AS2 | c.2849C>A (p.Pro950Gln) c.2840C>A (p.Pro947Gln) c.177+2016C>A c.2294C>A (p.Pro765Gln) c.2810C>A (p.Pro937Gln) c.2677+2058C>A (n.2677+2058C>A) n.3133C>A n.2450+5637G>T n.2967C>A n.4187+5637G>T c.2174C>A (p.Pro725Gln) n.2938C>A | |
16 | g.50796486C>G | CA395886370 | CYLD,CYLD-AS2 | c.2849C>G (p.Pro950Arg) c.2840C>G (p.Pro947Arg) c.177+2016C>G c.2294C>G (p.Pro765Arg) c.2810C>G (p.Pro937Arg) c.2677+2058C>G (n.2677+2058C>G) n.3133C>G n.2450+5637G>C n.2967C>G n.4187+5637G>C c.2174C>G (p.Pro725Arg) n.2938C>G | |
16 | g.50796486C>T | CA395886373 | CYLD,CYLD-AS2 | c.2849C>T (p.Pro950Leu) c.2840C>T (p.Pro947Leu) c.177+2016C>T c.2294C>T (p.Pro765Leu) c.2810C>T (p.Pro937Leu) c.2677+2058C>T (n.2677+2058C>T) n.3133C>T n.2450+5637G>A n.2967C>T n.4187+5637G>A c.2174C>T (p.Pro725Leu) n.2938C>T | gnomAD v4 |
16 | g.50796487A= | CA2221882577 | CYLD,CYLD-AS2 | c.2850A= (p.Pro950=) c.2841A= (p.Pro947=) c.177+2017A= c.2295A= (p.Pro765=) c.2811A= (p.Pro937=) c.2677+2059A= (n.2677+2059A=) n.3134A= n.2450+5636T= n.2968A= n.4187+5636T= c.2175A= (p.Pro725=) n.2939A= | |
16 | g.50796487A>C | CA495467164 | CYLD,CYLD-AS2 | c.2850A>C (p.Pro950=) c.2841A>C (p.Pro947=) c.177+2017A>C c.2295A>C (p.Pro765=) c.2811A>C (p.Pro937=) c.2677+2059A>C (n.2677+2059A>C) n.3134A>C n.2450+5636T>G n.2968A>C n.4187+5636T>G c.2175A>C (p.Pro725=) n.2939A>C | dbSNP |
16 | g.50796487A>G | CA495467160 | CYLD,CYLD-AS2 | c.2850A>G (p.Pro950=) c.2841A>G (p.Pro947=) c.177+2017A>G c.2295A>G (p.Pro765=) c.2811A>G (p.Pro937=) c.2677+2059A>G (n.2677+2059A>G) n.3134A>G n.2450+5636T>C n.2968A>G n.4187+5636T>C c.2175A>G (p.Pro725=) n.2939A>G | |
16 | g.50796487A>T | CA495467161 | CYLD,CYLD-AS2 | c.2850A>T (p.Pro950=) c.2841A>T (p.Pro947=) c.177+2017A>T c.2295A>T (p.Pro765=) c.2811A>T (p.Pro937=) c.2677+2059A>T (n.2677+2059A>T) n.3134A>T n.2450+5636T>A n.2968A>T n.4187+5636T>A c.2175A>T (p.Pro725=) n.2939A>T | |
16 | g.50796488A>C | CA395886377 | CYLD,CYLD-AS2 | c.2851A>C (p.Thr951Pro) c.2842A>C (p.Thr948Pro) c.177+2018A>C c.2296A>C (p.Thr766Pro) c.2812A>C (p.Thr938Pro) c.2677+2060A>C (n.2677+2060A>C) n.3135A>C n.2450+5635T>G n.2969A>C n.4187+5635T>G c.2176A>C (p.Thr726Pro) n.2940A>C | |
16 | g.50796488A>G | CA395886379 | CYLD,CYLD-AS2 | c.2851A>G (p.Thr951Ala) c.2842A>G (p.Thr948Ala) c.177+2018A>G c.2296A>G (p.Thr766Ala) c.2812A>G (p.Thr938Ala) c.2677+2060A>G (n.2677+2060A>G) n.3135A>G n.2450+5635T>C n.2969A>G n.4187+5635T>C c.2176A>G (p.Thr726Ala) n.2940A>G | gnomAD v4 |
16 | g.50796488A>T | CA395886382 | CYLD,CYLD-AS2 | c.2851A>T (p.Thr951Ser) c.2842A>T (p.Thr948Ser) c.177+2018A>T c.2296A>T (p.Thr766Ser) c.2812A>T (p.Thr938Ser) c.2677+2060A>T (n.2677+2060A>T) n.3135A>T n.2450+5635T>A n.2969A>T n.4187+5635T>A c.2176A>T (p.Thr726Ser) n.2940A>T | |
16 | g.50796489C>A | CA395886389 | CYLD,CYLD-AS2 | c.2852C>A (p.Thr951Lys) c.2843C>A (p.Thr948Lys) c.177+2019C>A c.2297C>A (p.Thr766Lys) c.2813C>A (p.Thr938Lys) c.2677+2061C>A (n.2677+2061C>A) n.3136C>A n.2450+5634G>T n.2970C>A n.4187+5634G>T c.2177C>A (p.Thr726Lys) n.2941C>A | dbSNP |
16 | g.50796489C= | CA2221882582 | CYLD,CYLD-AS2 | c.2852C= (p.Thr951=) c.2843C= (p.Thr948=) c.177+2019C= c.2297C= (p.Thr766=) c.2813C= (p.Thr938=) c.2677+2061C= (n.2677+2061C=) n.3136C= n.2450+5634G= n.2970C= n.4187+5634G= c.2177C= (p.Thr726=) n.2941C= | |
16 | g.50796489C>G | CA395886386 | CYLD,CYLD-AS2 | c.2852C>G (p.Thr951Arg) c.2843C>G (p.Thr948Arg) c.177+2019C>G c.2297C>G (p.Thr766Arg) c.2813C>G (p.Thr938Arg) c.2677+2061C>G (n.2677+2061C>G) n.3136C>G n.2450+5634G>C n.2970C>G n.4187+5634G>C c.2177C>G (p.Thr726Arg) n.2941C>G | |
16 | g.50796489C>T | CA8052729 | CYLD,CYLD-AS2 | c.2852C>T (p.Thr951Ile) c.2843C>T (p.Thr948Ile) c.177+2019C>T c.2297C>T (p.Thr766Ile) c.2813C>T (p.Thr938Ile) c.2677+2061C>T (n.2677+2061C>T) n.3136C>T n.2450+5634G>A n.2970C>T n.4187+5634G>A c.2177C>T (p.Thr726Ile) n.2941C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50796490A>C | CA495467187 | CYLD,CYLD-AS2 | c.2853A>C (p.Thr951=) c.2844A>C (p.Thr948=) c.177+2020A>C c.2298A>C (p.Thr766=) c.2814A>C (p.Thr938=) c.2677+2062A>C (n.2677+2062A>C) n.3137A>C n.2450+5633T>G n.2971A>C n.4187+5633T>G c.2178A>C (p.Thr726=) n.2942A>C | |
16 | g.50796490A>G | CA495467189 | CYLD,CYLD-AS2 | c.2853A>G (p.Thr951=) c.2844A>G (p.Thr948=) c.177+2020A>G c.2298A>G (p.Thr766=) c.2814A>G (p.Thr938=) c.2677+2062A>G (n.2677+2062A>G) n.3137A>G n.2450+5633T>C n.2971A>G n.4187+5633T>C c.2178A>G (p.Thr726=) n.2942A>G | |
16 | g.50796490A>T | CA495467192 | CYLD,CYLD-AS2 | c.2853A>T (p.Thr951=) c.2844A>T (p.Thr948=) c.177+2020A>T c.2298A>T (p.Thr766=) c.2814A>T (p.Thr938=) c.2677+2062A>T (n.2677+2062A>T) n.3137A>T n.2450+5633T>A n.2971A>T n.4187+5633T>A c.2178A>T (p.Thr726=) n.2942A>T | |
16 | g.50796491A= | CA2221882583 | CYLD,CYLD-AS2 | c.2854A= (p.Met952=) c.2845A= (p.Met949=) c.177+2021A= c.2299A= (p.Met767=) c.2815A= (p.Met939=) c.2677+2063A= (n.2677+2063A=) n.3138A= n.2450+5632T= n.2972A= n.4187+5632T= c.2179A= (p.Met727=) n.2943A= | |
16 | g.50796491A>C | CA395886392 | CYLD,CYLD-AS2 | c.2854A>C (p.Met952Leu) c.2845A>C (p.Met949Leu) c.177+2021A>C c.2299A>C (p.Met767Leu) c.2815A>C (p.Met939Leu) c.2677+2063A>C (n.2677+2063A>C) n.3138A>C n.2450+5632T>G n.2972A>C n.4187+5632T>G c.2179A>C (p.Met727Leu) n.2943A>C | |
16 | g.50796491A>G | CA395886394 | CYLD,CYLD-AS2 | c.2854A>G (p.Met952Val) c.2845A>G (p.Met949Val) c.177+2021A>G c.2299A>G (p.Met767Val) c.2815A>G (p.Met939Val) c.2677+2063A>G (n.2677+2063A>G) n.3138A>G n.2450+5632T>C n.2972A>G n.4187+5632T>C c.2179A>G (p.Met727Val) n.2943A>G | gnomAD v4 |
16 | g.50796491A>T | CA395886397 | CYLD,CYLD-AS2 | c.2854A>T (p.Met952Leu) c.2845A>T (p.Met949Leu) c.177+2021A>T c.2299A>T (p.Met767Leu) c.2815A>T (p.Met939Leu) c.2677+2063A>T (n.2677+2063A>T) n.3138A>T n.2450+5632T>A n.2972A>T n.4187+5632T>A c.2179A>T (p.Met727Leu) n.2943A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.50796492T>A | CA395886399 | CYLD,CYLD-AS2 | c.2855T>A (p.Met952Lys) c.2846T>A (p.Met949Lys) c.177+2022T>A c.2300T>A (p.Met767Lys) c.2816T>A (p.Met939Lys) c.2677+2064T>A (n.2677+2064T>A) n.3139T>A n.2450+5631A>T n.2973T>A n.4187+5631A>T c.2180T>A (p.Met727Lys) n.2944T>A | |
16 | g.50796492T>C | CA395886402 | CYLD,CYLD-AS2 | c.2855T>C (p.Met952Thr) c.2846T>C (p.Met949Thr) c.177+2022T>C c.2300T>C (p.Met767Thr) c.2816T>C (p.Met939Thr) c.2677+2064T>C (n.2677+2064T>C) n.3139T>C n.2450+5631A>G n.2973T>C n.4187+5631A>G c.2180T>C (p.Met727Thr) n.2944T>C | |
16 | g.50796492T>G | CA395886404 | CYLD,CYLD-AS2 | c.2855T>G (p.Met952Arg) c.2846T>G (p.Met949Arg) c.177+2022T>G c.2300T>G (p.Met767Arg) c.2816T>G (p.Met939Arg) c.2677+2064T>G (n.2677+2064T>G) n.3139T>G n.2450+5631A>C n.2973T>G n.4187+5631A>C c.2180T>G (p.Met727Arg) n.2944T>G | |
16 | g.50796493G>A | CA395886407 | CYLD,CYLD-AS2 | c.2856G>A (p.Met952Ile) c.2847G>A (p.Met949Ile) c.177+2023G>A c.2301G>A (p.Met767Ile) c.2817G>A (p.Met939Ile) c.2677+2065G>A (n.2677+2065G>A) n.3140G>A n.2450+5630C>T n.2974G>A n.4187+5630C>T c.2181G>A (p.Met727Ile) n.2945G>A | dbSNP |
16 | g.50796493G>C | CA395886411 | CYLD,CYLD-AS2 | c.2856G>C (p.Met952Ile) c.2847G>C (p.Met949Ile) c.177+2023G>C c.2301G>C (p.Met767Ile) c.2817G>C (p.Met939Ile) c.2677+2065G>C (n.2677+2065G>C) n.3140G>C n.2450+5630C>G n.2974G>C n.4187+5630C>G c.2181G>C (p.Met727Ile) n.2945G>C | dbSNP |
16 | g.50796493G= | CA2221882585 | CYLD,CYLD-AS2 | c.2856G= (p.Met952=) c.2847G= (p.Met949=) c.177+2023G= c.2301G= (p.Met767=) c.2817G= (p.Met939=) c.2677+2065G= (n.2677+2065G=) n.3140G= n.2450+5630C= n.2974G= n.4187+5630C= c.2181G= (p.Met727=) n.2945G= | |
16 | g.50796493G>T | CA395886409 | CYLD,CYLD-AS2 | c.2856G>T (p.Met952Ile) c.2847G>T (p.Met949Ile) c.177+2023G>T c.2301G>T (p.Met767Ile) c.2817G>T (p.Met939Ile) c.2677+2065G>T (n.2677+2065G>T) n.3140G>T n.2450+5630C>A n.2974G>T n.4187+5630C>A c.2181G>T (p.Met727Ile) n.2945G>T | |
16 | g.50796494A>C | CA395886415 | CYLD,CYLD-AS2 | c.2857A>C (p.Ser953Arg) c.2848A>C (p.Ser950Arg) c.177+2024A>C c.2302A>C (p.Ser768Arg) c.2818A>C (p.Ser940Arg) c.2677+2066A>C (n.2677+2066A>C) n.3141A>C n.2450+5629T>G n.2975A>C n.4187+5629T>G c.2182A>C (p.Ser728Arg) n.2946A>C | |
16 | g.50796494A>G | CA395886417 | CYLD,CYLD-AS2 | c.2857A>G (p.Ser953Gly) c.2848A>G (p.Ser950Gly) c.177+2024A>G c.2302A>G (p.Ser768Gly) c.2818A>G (p.Ser940Gly) c.2677+2066A>G (n.2677+2066A>G) n.3141A>G n.2450+5629T>C n.2975A>G n.4187+5629T>C c.2182A>G (p.Ser728Gly) n.2946A>G | |
16 | g.50796494A>T | CA395886419 | CYLD,CYLD-AS2 | c.2857A>T (p.Ser953Cys) c.2848A>T (p.Ser950Cys) c.177+2024A>T c.2302A>T (p.Ser768Cys) c.2818A>T (p.Ser940Cys) c.2677+2066A>T (n.2677+2066A>T) n.3141A>T n.2450+5629T>A n.2975A>T n.4187+5629T>A c.2182A>T (p.Ser728Cys) n.2946A>T | |
16 | g.50796495G>A | CA395886422 | CYLD,CYLD-AS2 | c.2858G>A (p.Ser953Asn) c.2849G>A (p.Ser950Asn) c.177+2025G>A c.2303G>A (p.Ser768Asn) c.2819G>A (p.Ser940Asn) c.2677+2067G>A (n.2677+2067G>A) n.3142G>A n.2450+5628C>T n.2976G>A n.4187+5628C>T c.2183G>A (p.Ser728Asn) n.2947G>A | |
16 | g.50796495G>C | CA395886423 | CYLD,CYLD-AS2 | c.2858G>C (p.Ser953Thr) c.2849G>C (p.Ser950Thr) c.177+2025G>C c.2303G>C (p.Ser768Thr) c.2819G>C (p.Ser940Thr) c.2677+2067G>C (n.2677+2067G>C) n.3142G>C n.2450+5628C>G n.2976G>C n.4187+5628C>G c.2183G>C (p.Ser728Thr) n.2947G>C | |
16 | g.50796495G>T | CA395886425 | CYLD,CYLD-AS2 | c.2858G>T (p.Ser953Ile) c.2849G>T (p.Ser950Ile) c.177+2025G>T c.2303G>T (p.Ser768Ile) c.2819G>T (p.Ser940Ile) c.2677+2067G>T (n.2677+2067G>T) n.3142G>T n.2450+5628C>A n.2976G>T n.4187+5628C>A c.2183G>T (p.Ser728Ile) n.2947G>T | |
16 | g.50796496T>A | CA395886428 | CYLD,CYLD-AS2 | c.2859T>A (p.Ser953Arg) c.2850T>A (p.Ser950Arg) c.177+2026T>A c.2304T>A (p.Ser768Arg) c.2820T>A (p.Ser940Arg) c.2677+2068T>A (n.2677+2068T>A) n.3143T>A n.2450+5627A>T n.2977T>A n.4187+5627A>T c.2184T>A (p.Ser728Arg) n.2948T>A | |
16 | g.50796496T>C | CA495467234 | CYLD,CYLD-AS2 | c.2859T>C (p.Ser953=) c.2850T>C (p.Ser950=) c.177+2026T>C c.2304T>C (p.Ser768=) c.2820T>C (p.Ser940=) c.2677+2068T>C (n.2677+2068T>C) n.3143T>C n.2450+5627A>G n.2977T>C n.4187+5627A>G c.2184T>C (p.Ser728=) n.2948T>C | |
16 | g.50796496T>G | CA395886430 | CYLD,CYLD-AS2 | c.2859T>G (p.Ser953Arg) c.2850T>G (p.Ser950Arg) c.177+2026T>G c.2304T>G (p.Ser768Arg) c.2820T>G (p.Ser940Arg) c.2677+2068T>G (n.2677+2068T>G) n.3143T>G n.2450+5627A>C n.2977T>G n.4187+5627A>C c.2184T>G (p.Ser728Arg) n.2948T>G | |
16 | g.50796497T>A | CA395886432 | CYLD,CYLD-AS2 | c.2860T>A (p.Leu954Met) c.2851T>A (p.Leu951Met) c.177+2027T>A c.2305T>A (p.Leu769Met) c.2821T>A (p.Leu941Met) c.2677+2069T>A (n.2677+2069T>A) n.3144T>A n.2450+5626A>T n.2978T>A n.4187+5626A>T c.2185T>A (p.Leu729Met) n.2949T>A | |
16 | g.50796497T>C | CA495467244 | CYLD,CYLD-AS2 | c.2860T>C (p.Leu954=) c.2851T>C (p.Leu951=) c.177+2027T>C c.2305T>C (p.Leu769=) c.2821T>C (p.Leu941=) c.2677+2069T>C (n.2677+2069T>C) n.3144T>C n.2450+5626A>G n.2978T>C n.4187+5626A>G c.2185T>C (p.Leu729=) n.2949T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50796497T>G | CA395886434 | CYLD,CYLD-AS2 | c.2860T>G (p.Leu954Val) c.2851T>G (p.Leu951Val) c.177+2027T>G c.2305T>G (p.Leu769Val) c.2821T>G (p.Leu941Val) c.2677+2069T>G (n.2677+2069T>G) n.3144T>G n.2450+5626A>C n.2978T>G n.4187+5626A>C c.2185T>G (p.Leu729Val) n.2949T>G | |
16 | g.50796497T= | CA2221882588 | CYLD,CYLD-AS2 | c.2860T= (p.Leu954=) c.2851T= (p.Leu951=) c.177+2027T= c.2305T= (p.Leu769=) c.2821T= (p.Leu941=) c.2677+2069T= (n.2677+2069T=) n.3144T= n.2450+5626A= n.2978T= n.4187+5626A= c.2185T= (p.Leu729=) n.2949T= | |
16 | g.50796498T>A | CA395886443 | CYLD,CYLD-AS2 | c.2861T>A (p.Leu954Ter) c.2852T>A (p.Leu951Ter) c.177+2028T>A c.2306T>A (p.Leu769Ter) c.2822T>A (p.Leu941Ter) c.2677+2070T>A (n.2677+2070T>A) n.3145T>A n.2450+5625A>T n.2979T>A n.4187+5625A>T c.2186T>A (p.Leu729Ter) n.2950T>A | |
16 | g.50796498T>C | CA395886440 | CYLD,CYLD-AS2 | c.2861T>C (p.Leu954Ser) c.2852T>C (p.Leu951Ser) c.177+2028T>C c.2306T>C (p.Leu769Ser) c.2822T>C (p.Leu941Ser) c.2677+2070T>C (n.2677+2070T>C) n.3145T>C n.2450+5625A>G n.2979T>C n.4187+5625A>G c.2186T>C (p.Leu729Ser) n.2950T>C | |
16 | g.50796498T>G | CA395886438 | CYLD,CYLD-AS2 | c.2861T>G (p.Leu954Trp) c.2852T>G (p.Leu951Trp) c.177+2028T>G c.2306T>G (p.Leu769Trp) c.2822T>G (p.Leu941Trp) c.2677+2070T>G (n.2677+2070T>G) n.3145T>G n.2450+5625A>C n.2979T>G n.4187+5625A>C c.2186T>G (p.Leu729Trp) n.2950T>G | |
16 | g.50796499G>A | CA495467250 | CYLD,CYLD-AS2 | c.2862G>A (p.Leu954=) c.2853G>A (p.Leu951=) c.177+2029G>A c.2307G>A (p.Leu769=) c.2823G>A (p.Leu941=) c.2677+2071G>A (n.2677+2071G>A) n.3146G>A n.2450+5624C>T n.2980G>A n.4187+5624C>T c.2187G>A (p.Leu729=) n.2951G>A | |
16 | g.50796499G>C | CA395886445 | CYLD,CYLD-AS2 | c.2862G>C (p.Leu954Phe) c.2853G>C (p.Leu951Phe) c.177+2029G>C c.2307G>C (p.Leu769Phe) c.2823G>C (p.Leu941Phe) c.2677+2071G>C (n.2677+2071G>C) n.3146G>C n.2450+5624C>G n.2980G>C n.4187+5624C>G c.2187G>C (p.Leu729Phe) n.2951G>C | |
16 | g.50796499G>T | CA395886446 | CYLD,CYLD-AS2 | c.2862G>T (p.Leu954Phe) c.2853G>T (p.Leu951Phe) c.177+2029G>T c.2307G>T (p.Leu769Phe) c.2823G>T (p.Leu941Phe) c.2677+2071G>T (n.2677+2071G>T) n.3146G>T n.2450+5624C>A n.2980G>T n.4187+5624C>A c.2187G>T (p.Leu729Phe) n.2951G>T | |
16 | g.50796500T>A | CA395886450 | CYLD,CYLD-AS2 | c.2863T>A (p.Tyr955Asn) c.2854T>A (p.Tyr952Asn) c.177+2030T>A c.2308T>A (p.Tyr770Asn) c.2824T>A (p.Tyr942Asn) c.2677+2072T>A (n.2677+2072T>A) n.3147T>A n.2450+5623A>T n.2981T>A n.4187+5623A>T c.2188T>A (p.Tyr730Asn) n.2952T>A | |
16 | g.50796500T>C | CA395886452 | CYLD,CYLD-AS2 | c.2863T>C (p.Tyr955His) c.2854T>C (p.Tyr952His) c.177+2030T>C c.2308T>C (p.Tyr770His) c.2824T>C (p.Tyr942His) c.2677+2072T>C (n.2677+2072T>C) n.3147T>C n.2450+5623A>G n.2981T>C n.4187+5623A>G c.2188T>C (p.Tyr730His) n.2952T>C | |
16 | g.50796500T>G | CA395886453 | CYLD,CYLD-AS2 | c.2863T>G (p.Tyr955Asp) c.2854T>G (p.Tyr952Asp) c.177+2030T>G c.2308T>G (p.Tyr770Asp) c.2824T>G (p.Tyr942Asp) c.2677+2072T>G (n.2677+2072T>G) n.3147T>G n.2450+5623A>C n.2981T>G n.4187+5623A>C c.2188T>G (p.Tyr730Asp) n.2952T>G | |
16 | g.50796501A>C | CA395886456 | CYLD,CYLD-AS2 | c.2864A>C (p.Tyr955Ser) c.2855A>C (p.Tyr952Ser) c.177+2031A>C c.2309A>C (p.Tyr770Ser) c.2825A>C (p.Tyr942Ser) c.2677+2073A>C (n.2677+2073A>C) n.3148A>C n.2450+5622T>G n.2982A>C n.4187+5622T>G c.2189A>C (p.Tyr730Ser) n.2953A>C | |
16 | g.50796501A>G | CA395886458 | CYLD,CYLD-AS2 | c.2864A>G (p.Tyr955Cys) c.2855A>G (p.Tyr952Cys) c.177+2031A>G c.2309A>G (p.Tyr770Cys) c.2825A>G (p.Tyr942Cys) c.2677+2073A>G (n.2677+2073A>G) n.3148A>G n.2450+5622T>C n.2982A>G n.4187+5622T>C c.2189A>G (p.Tyr730Cys) n.2953A>G | gnomAD v4 |
16 | g.50796501A>T | CA395886460 | CYLD,CYLD-AS2 | c.2864A>T (p.Tyr955Phe) c.2855A>T (p.Tyr952Phe) c.177+2031A>T c.2309A>T (p.Tyr770Phe) c.2825A>T (p.Tyr942Phe) c.2677+2073A>T (n.2677+2073A>T) n.3148A>T n.2450+5622T>A n.2982A>T n.4187+5622T>A c.2189A>T (p.Tyr730Phe) n.2953A>T | |
16 | g.50796502C>A | CA395886463 | CYLD,CYLD-AS2 | c.2865C>A (p.Tyr955Ter) c.2856C>A (p.Tyr952Ter) c.177+2032C>A c.2310C>A (p.Tyr770Ter) c.2826C>A (p.Tyr942Ter) c.2677+2074C>A (n.2677+2074C>A) n.3149C>A n.2450+5621G>T n.2983C>A n.4187+5621G>T c.2190C>A (p.Tyr730Ter) n.2954C>A | |
16 | g.50796502C>G | CA395886465 | CYLD,CYLD-AS2 | c.2865C>G (p.Tyr955Ter) c.2856C>G (p.Tyr952Ter) c.177+2032C>G c.2310C>G (p.Tyr770Ter) c.2826C>G (p.Tyr942Ter) c.2677+2074C>G (n.2677+2074C>G) n.3149C>G n.2450+5621G>C n.2983C>G n.4187+5621G>C c.2190C>G (p.Tyr730Ter) n.2954C>G | |
16 | g.50796502C>T | CA495467272 | CYLD,CYLD-AS2 | c.2865C>T (p.Tyr955=) c.2856C>T (p.Tyr952=) c.177+2032C>T c.2310C>T (p.Tyr770=) c.2826C>T (p.Tyr942=) c.2677+2074C>T (n.2677+2074C>T) n.3149C>T n.2450+5621G>A n.2983C>T n.4187+5621G>A c.2190C>T (p.Tyr730=) n.2954C>T | |
16 | g.50796503A>C | CA395886468 | CYLD,CYLD-AS2 | c.2866A>C (p.Lys956Gln) c.2857A>C (p.Lys953Gln) c.177+2033A>C c.2311A>C (p.Lys771Gln) c.2827A>C (p.Lys943Gln) c.2677+2075A>C (n.2677+2075A>C) n.3150A>C n.2450+5620T>G n.2984A>C n.4187+5620T>G c.2191A>C (p.Lys731Gln) n.2955A>C | |
16 | g.50796503A>G | CA395886470 | CYLD,CYLD-AS2 | c.2866A>G (p.Lys956Glu) c.2857A>G (p.Lys953Glu) c.177+2033A>G c.2311A>G (p.Lys771Glu) c.2827A>G (p.Lys943Glu) c.2677+2075A>G (n.2677+2075A>G) n.3150A>G n.2450+5620T>C n.2984A>G n.4187+5620T>C c.2191A>G (p.Lys731Glu) n.2955A>G | |
16 | g.50796503A>T | CA395886473 | CYLD,CYLD-AS2 | c.2866A>T (p.Lys956Ter) c.2857A>T (p.Lys953Ter) c.177+2033A>T c.2311A>T (p.Lys771Ter) c.2827A>T (p.Lys943Ter) c.2677+2075A>T (n.2677+2075A>T) n.3150A>T n.2450+5620T>A n.2984A>T n.4187+5620T>A c.2191A>T (p.Lys731Ter) n.2955A>T | |
16 | g.50796504A>C | CA395886481 | CYLD,CYLD-AS2 | c.2867A>C (p.Lys956Thr) c.2858A>C (p.Lys953Thr) c.177+2034A>C c.2312A>C (p.Lys771Thr) c.2828A>C (p.Lys943Thr) c.2677+2076A>C (n.2677+2076A>C) n.3151A>C n.2450+5619T>G n.2985A>C n.4187+5619T>G c.2192A>C (p.Lys731Thr) n.2956A>C | |
16 | g.50796504A>G | CA395886477 | CYLD,CYLD-AS2 | c.2867A>G (p.Lys956Arg) c.2858A>G (p.Lys953Arg) c.177+2034A>G c.2312A>G (p.Lys771Arg) c.2828A>G (p.Lys943Arg) c.2677+2076A>G (n.2677+2076A>G) n.3151A>G n.2450+5619T>C n.2985A>G n.4187+5619T>C c.2192A>G (p.Lys731Arg) n.2956A>G | |
16 | g.50796504A>T | CA395886479 | CYLD,CYLD-AS2 | c.2867A>T (p.Lys956Ile) c.2858A>T (p.Lys953Ile) c.177+2034A>T c.2312A>T (p.Lys771Ile) c.2828A>T (p.Lys943Ile) c.2677+2076A>T (n.2677+2076A>T) n.3151A>T n.2450+5619T>A n.2985A>T n.4187+5619T>A c.2192A>T (p.Lys731Ile) n.2956A>T | |
16 | g.50796505A>C | CA395886486 | CYLD,CYLD-AS2 | c.2868A>C (p.Lys956Asn) c.2859A>C (p.Lys953Asn) c.177+2035A>C c.2313A>C (p.Lys771Asn) c.2829A>C (p.Lys943Asn) c.2677+2077A>C (n.2677+2077A>C) n.3152A>C n.2450+5618T>G n.2986A>C n.4187+5618T>G c.2193A>C (p.Lys731Asn) n.2957A>C | |
16 | g.50796505A>G | CA495467292 | CYLD,CYLD-AS2 | c.2868A>G (p.Lys956=) c.2859A>G (p.Lys953=) c.177+2035A>G c.2313A>G (p.Lys771=) c.2829A>G (p.Lys943=) c.2677+2077A>G (n.2677+2077A>G) n.3152A>G n.2450+5618T>C n.2986A>G n.4187+5618T>C c.2193A>G (p.Lys731=) n.2957A>G | |
16 | g.50796505A>T | CA395886488 | CYLD,CYLD-AS2 | c.2868A>T (p.Lys956Asn) c.2859A>T (p.Lys953Asn) c.177+2035A>T c.2313A>T (p.Lys771Asn) c.2829A>T (p.Lys943Asn) c.2677+2077A>T (n.2677+2077A>T) n.3152A>T n.2450+5618T>A n.2986A>T n.4187+5618T>A c.2193A>T (p.Lys731Asn) n.2957A>T | |
16 | g.50796506T>A | CA395886491 | CYLD,CYLD-AS2 | c.2869T>A (p.Ter957Lys) c.2860T>A (p.Ter954Lys) c.177+2036T>A c.2314T>A (p.Ter772Lys) c.2830T>A (p.Ter944Lys) c.2677+2078T>A (n.2677+2078T>A) n.3153T>A n.2450+5617A>T n.2987T>A n.4187+5617A>T c.2194T>A (p.Ter732Lys) n.2958T>A | |
16 | g.50796506T>C | CA395886492 | CYLD,CYLD-AS2 | c.2869T>C (p.Ter957Gln) c.2860T>C (p.Ter954Gln) c.177+2036T>C c.2314T>C (p.Ter772Gln) c.2830T>C (p.Ter944Gln) c.2677+2078T>C (n.2677+2078T>C) n.3153T>C n.2450+5617A>G n.2987T>C n.4187+5617A>G c.2194T>C (p.Ter732Gln) n.2958T>C | |
16 | g.50796506T>G | CA395886494 | CYLD,CYLD-AS2 | c.2869T>G (p.Ter957Glu) c.2860T>G (p.Ter954Glu) c.177+2036T>G c.2314T>G (p.Ter772Glu) c.2830T>G (p.Ter944Glu) c.2677+2078T>G (n.2677+2078T>G) n.3153T>G n.2450+5617A>C n.2987T>G n.4187+5617A>C c.2194T>G (p.Ter732Glu) n.2958T>G |