| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43048449T>A | CA364220447 | CUL7,KLC4 | c.1946A>T (p.Glu649Val) n.2229A>T c.2042A>T (p.Glu681Val) n.2245A>T n.2280A>T c.438A>T c.-553+4941T>A (n.-553+4941T>A) c.2198A>T (p.Glu733Val) c.2102A>T (p.Glu701Val) c.-237A>T (n.-237A>T) c.2225A>T (p.Glu742Val) c.2129A>T (p.Glu710Val) c.2069A>T (p.Glu690Val) c.1973A>T (p.Glu658Val) | |
| 6 | g.43048449T>C | CA364220451 | CUL7,KLC4 | c.1946A>G (p.Glu649Gly) n.2229A>G c.2042A>G (p.Glu681Gly) n.2245A>G n.2280A>G c.438A>G c.-553+4941T>C (n.-553+4941T>C) c.2198A>G (p.Glu733Gly) c.2102A>G (p.Glu701Gly) c.-237A>G (n.-237A>G) c.2225A>G (p.Glu742Gly) c.2129A>G (p.Glu710Gly) c.2069A>G (p.Glu690Gly) c.1973A>G (p.Glu658Gly) | |
| 6 | g.43048449T>G | CA364220454 | CUL7,KLC4 | c.1946A>C (p.Glu649Ala) n.2229A>C c.2042A>C (p.Glu681Ala) n.2245A>C n.2280A>C c.438A>C c.-553+4941T>G (n.-553+4941T>G) c.2198A>C (p.Glu733Ala) c.2102A>C (p.Glu701Ala) c.-237A>C (n.-237A>C) c.2225A>C (p.Glu742Ala) c.2129A>C (p.Glu710Ala) c.2069A>C (p.Glu690Ala) c.1973A>C (p.Glu658Ala) | gnomAD v4 |
| 6 | g.43048450C>A | CA364220468 | CUL7,KLC4 | c.1945G>T (p.Glu649Ter) n.2228G>T c.2041G>T (p.Glu681Ter) n.2244G>T n.2279G>T c.437G>T c.-553+4942C>A (n.-553+4942C>A) c.2197G>T (p.Glu733Ter) c.2101G>T (p.Glu701Ter) c.-238G>T (n.-238G>T) c.2224G>T (p.Glu742Ter) c.2128G>T (p.Glu710Ter) c.2068G>T (p.Glu690Ter) c.1972G>T (p.Glu658Ter) | |
| 6 | g.43048450C= | CA1624357371 | CUL7,KLC4 | c.1945G= (p.Glu649=) n.2228G= c.2041G= (p.Glu681=) n.2244G= n.2279G= c.437G= c.-553+4942C= (n.-553+4942C=) c.2197G= (p.Glu733=) c.2101G= (p.Glu701=) c.-238G= (n.-238G=) c.2224G= (p.Glu742=) c.2128G= (p.Glu710=) c.2068G= (p.Glu690=) c.1972G= (p.Glu658=) | |
| 6 | g.43048450C>G | CA364220473 | CUL7,KLC4 | c.1945G>C (p.Glu649Gln) n.2228G>C c.2041G>C (p.Glu681Gln) n.2244G>C n.2279G>C c.437G>C c.-553+4942C>G (n.-553+4942C>G) c.2197G>C (p.Glu733Gln) c.2101G>C (p.Glu701Gln) c.-238G>C (n.-238G>C) c.2224G>C (p.Glu742Gln) c.2128G>C (p.Glu710Gln) c.2068G>C (p.Glu690Gln) c.1972G>C (p.Glu658Gln) | |
| 6 | g.43048450C>T | CA138249276 | CUL7,KLC4 | c.1945G>A (p.Glu649Lys) n.2228G>A c.2041G>A (p.Glu681Lys) n.2244G>A n.2279G>A c.437G>A c.-553+4942C>T (n.-553+4942C>T) c.2197G>A (p.Glu733Lys) c.2101G>A (p.Glu701Lys) c.-238G>A (n.-238G>A) c.2224G>A (p.Glu742Lys) c.2128G>A (p.Glu710Lys) c.2068G>A (p.Glu690Lys) c.1972G>A (p.Glu658Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.43048451C>A | CA364220479 | CUL7,KLC4 | c.1944G>T (p.Gln648His) n.2227G>T c.2040G>T (p.Gln680His) n.2243G>T n.2278G>T c.436G>T c.-553+4943C>A (n.-553+4943C>A) c.2196G>T (p.Gln732His) c.2100G>T (p.Gln700His) c.-239G>T (n.-239G>T) c.2223G>T (p.Gln741His) c.2127G>T (p.Gln709His) c.2067G>T (p.Gln689His) c.1971G>T (p.Gln657His) | |
| 6 | g.43048451C= | CA1624357372 | CUL7,KLC4 | c.1944G= (p.Gln648=) n.2227G= c.2040G= (p.Gln680=) n.2243G= n.2278G= c.436G= c.-553+4943C= (n.-553+4943C=) c.2196G= (p.Gln732=) c.2100G= (p.Gln700=) c.-239G= (n.-239G=) c.2223G= (p.Gln741=) c.2127G= (p.Gln709=) c.2067G= (p.Gln689=) c.1971G= (p.Gln657=) | |
| 6 | g.43048451C>G | CA364220481 | CUL7,KLC4 | c.1944G>C (p.Gln648His) n.2227G>C c.2040G>C (p.Gln680His) n.2243G>C n.2278G>C c.436G>C c.-553+4943C>G (n.-553+4943C>G) c.2196G>C (p.Gln732His) c.2100G>C (p.Gln700His) c.-239G>C (n.-239G>C) c.2223G>C (p.Gln741His) c.2127G>C (p.Gln709His) c.2067G>C (p.Gln689His) c.1971G>C (p.Gln657His) | |
| 6 | g.43048451C>T | CA450261959 | CUL7,KLC4 | c.1944G>A (p.Gln648=) n.2227G>A c.2040G>A (p.Gln680=) n.2243G>A n.2278G>A c.436G>A c.-553+4943C>T (n.-553+4943C>T) c.2196G>A (p.Gln732=) c.2100G>A (p.Gln700=) c.-239G>A (n.-239G>A) c.2223G>A (p.Gln741=) c.2127G>A (p.Gln709=) c.2067G>A (p.Gln689=) c.1971G>A (p.Gln657=) | dbSNP gnomAD v4 |
| 6 | g.43048452T>A | CA364220487 | CUL7,KLC4 | c.1943A>T (p.Gln648Leu) n.2226A>T c.2039A>T (p.Gln680Leu) n.2242A>T n.2277A>T c.435A>T c.-553+4944T>A (n.-553+4944T>A) c.2195A>T (p.Gln732Leu) c.2099A>T (p.Gln700Leu) c.-240A>T (n.-240A>T) c.2222A>T (p.Gln741Leu) c.2126A>T (p.Gln709Leu) c.2066A>T (p.Gln689Leu) c.1970A>T (p.Gln657Leu) | |
| 6 | g.43048452T>C | CA364220486 | CUL7,KLC4 | c.1943A>G (p.Gln648Arg) n.2226A>G c.2039A>G (p.Gln680Arg) n.2242A>G n.2277A>G c.435A>G c.-553+4944T>C (n.-553+4944T>C) c.2195A>G (p.Gln732Arg) c.2099A>G (p.Gln700Arg) c.-240A>G (n.-240A>G) c.2222A>G (p.Gln741Arg) c.2126A>G (p.Gln709Arg) c.2066A>G (p.Gln689Arg) c.1970A>G (p.Gln657Arg) | |
| 6 | g.43048452T>G | CA364220484 | CUL7,KLC4 | c.1943A>C (p.Gln648Pro) n.2226A>C c.2039A>C (p.Gln680Pro) n.2242A>C n.2277A>C c.435A>C c.-553+4944T>G (n.-553+4944T>G) c.2195A>C (p.Gln732Pro) c.2099A>C (p.Gln700Pro) c.-240A>C (n.-240A>C) c.2222A>C (p.Gln741Pro) c.2126A>C (p.Gln709Pro) c.2066A>C (p.Gln689Pro) c.1970A>C (p.Gln657Pro) | gnomAD v4 |
| 6 | g.43048453G>A | CA364220490 | CUL7,KLC4 | c.1942C>T (p.Gln648Ter) n.2225C>T c.2038C>T (p.Gln680Ter) n.2241C>T n.2276C>T c.434C>T c.-553+4945G>A (n.-553+4945G>A) c.2194C>T (p.Gln732Ter) c.2098C>T (p.Gln700Ter) c.-241C>T (n.-241C>T) c.2221C>T (p.Gln741Ter) c.2125C>T (p.Gln709Ter) c.2065C>T (p.Gln689Ter) c.1969C>T (p.Gln657Ter) | |
| 6 | g.43048453G>C | CA364220496 | CUL7,KLC4 | c.1942C>G (p.Gln648Glu) n.2225C>G c.2038C>G (p.Gln680Glu) n.2241C>G n.2276C>G c.434C>G c.-553+4945G>C (n.-553+4945G>C) c.2194C>G (p.Gln732Glu) c.2098C>G (p.Gln700Glu) c.-241C>G (n.-241C>G) c.2221C>G (p.Gln741Glu) c.2125C>G (p.Gln709Glu) c.2065C>G (p.Gln689Glu) c.1969C>G (p.Gln657Glu) | |
| 6 | g.43048453G>T | CA364220492 | CUL7,KLC4 | c.1942C>A (p.Gln648Lys) n.2225C>A c.2038C>A (p.Gln680Lys) n.2241C>A n.2276C>A c.434C>A c.-553+4945G>T (n.-553+4945G>T) c.2194C>A (p.Gln732Lys) c.2098C>A (p.Gln700Lys) c.-241C>A (n.-241C>A) c.2221C>A (p.Gln741Lys) c.2125C>A (p.Gln709Lys) c.2065C>A (p.Gln689Lys) c.1969C>A (p.Gln657Lys) | |
| 6 | g.43048454G>A | CA450261962 | CUL7,KLC4 | c.1941C>T (p.Thr647=) n.2224C>T c.2037C>T (p.Thr679=) n.2240C>T n.2275C>T c.433C>T c.-553+4946G>A (n.-553+4946G>A) c.2193C>T (p.Thr731=) c.2097C>T (p.Thr699=) c.-242C>T (n.-242C>T) c.2220C>T (p.Thr740=) c.2124C>T (p.Thr708=) c.2064C>T (p.Thr688=) c.1968C>T (p.Thr656=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.43048454G>C | CA450261964 | CUL7,KLC4 | c.1941C>G (p.Thr647=) n.2224C>G c.2037C>G (p.Thr679=) n.2240C>G n.2275C>G c.433C>G c.-553+4946G>C (n.-553+4946G>C) c.2193C>G (p.Thr731=) c.2097C>G (p.Thr699=) c.-242C>G (n.-242C>G) c.2220C>G (p.Thr740=) c.2124C>G (p.Thr708=) c.2064C>G (p.Thr688=) c.1968C>G (p.Thr656=) | |
| 6 | g.43048454G= | CA1624357373 | CUL7,KLC4 | c.1941C= (p.Thr647=) n.2224C= c.2037C= (p.Thr679=) n.2240C= n.2275C= c.433C= c.-553+4946G= (n.-553+4946G=) c.2193C= (p.Thr731=) c.2097C= (p.Thr699=) c.-242C= (n.-242C=) c.2220C= (p.Thr740=) c.2124C= (p.Thr708=) c.2064C= (p.Thr688=) c.1968C= (p.Thr656=) | |
| 6 | g.43048454G>T | CA450261966 | CUL7,KLC4 | c.1941C>A (p.Thr647=) n.2224C>A c.2037C>A (p.Thr679=) n.2240C>A n.2275C>A c.433C>A c.-553+4946G>T (n.-553+4946G>T) c.2193C>A (p.Thr731=) c.2097C>A (p.Thr699=) c.-242C>A (n.-242C>A) c.2220C>A (p.Thr740=) c.2124C>A (p.Thr708=) c.2064C>A (p.Thr688=) c.1968C>A (p.Thr656=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.43048455G>A | CA3814036 | CUL7,KLC4 | c.1940C>T (p.Thr647Ile) n.2223C>T c.2036C>T (p.Thr679Ile) n.2239C>T n.2274C>T c.432C>T c.-553+4947G>A (n.-553+4947G>A) c.2192C>T (p.Thr731Ile) c.2096C>T (p.Thr699Ile) c.-243C>T (n.-243C>T) c.2219C>T (p.Thr740Ile) c.2123C>T (p.Thr708Ile) c.2063C>T (p.Thr688Ile) c.1967C>T (p.Thr656Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.43048455G>C | CA364220502 | CUL7,KLC4 | c.1940C>G (p.Thr647Ser) n.2223C>G c.2036C>G (p.Thr679Ser) n.2239C>G n.2274C>G c.432C>G c.-553+4947G>C (n.-553+4947G>C) c.2192C>G (p.Thr731Ser) c.2096C>G (p.Thr699Ser) c.-243C>G (n.-243C>G) c.2219C>G (p.Thr740Ser) c.2123C>G (p.Thr708Ser) c.2063C>G (p.Thr688Ser) c.1967C>G (p.Thr656Ser) | |
| 6 | g.43048455G= | CA1624357374 | CUL7,KLC4 | c.1940C= (p.Thr647=) n.2223C= c.2036C= (p.Thr679=) n.2239C= n.2274C= c.432C= c.-553+4947G= (n.-553+4947G=) c.2192C= (p.Thr731=) c.2096C= (p.Thr699=) c.-243C= (n.-243C=) c.2219C= (p.Thr740=) c.2123C= (p.Thr708=) c.2063C= (p.Thr688=) c.1967C= (p.Thr656=) | |
| 6 | g.43048455G>T | CA364220501 | CUL7,KLC4 | c.1940C>A (p.Thr647Asn) n.2223C>A c.2036C>A (p.Thr679Asn) n.2239C>A n.2274C>A c.432C>A c.-553+4947G>T (n.-553+4947G>T) c.2192C>A (p.Thr731Asn) c.2096C>A (p.Thr699Asn) c.-243C>A (n.-243C>A) c.2219C>A (p.Thr740Asn) c.2123C>A (p.Thr708Asn) c.2063C>A (p.Thr688Asn) c.1967C>A (p.Thr656Asn) | |
| 6 | g.43048456T>A | CA364220503 | CUL7,KLC4 | c.1939A>T (p.Thr647Ser) n.2222A>T c.2035A>T (p.Thr679Ser) n.2238A>T n.2273A>T c.431A>T c.-553+4948T>A (n.-553+4948T>A) c.2191A>T (p.Thr731Ser) c.2095A>T (p.Thr699Ser) c.-244A>T (n.-244A>T) c.2218A>T (p.Thr740Ser) c.2122A>T (p.Thr708Ser) c.2062A>T (p.Thr688Ser) c.1966A>T (p.Thr656Ser) | |
| 6 | g.43048456T>C | CA364220505 | CUL7,KLC4 | c.1939A>G (p.Thr647Ala) n.2222A>G c.2035A>G (p.Thr679Ala) n.2238A>G n.2273A>G c.431A>G c.-553+4948T>C (n.-553+4948T>C) c.2191A>G (p.Thr731Ala) c.2095A>G (p.Thr699Ala) c.-244A>G (n.-244A>G) c.2218A>G (p.Thr740Ala) c.2122A>G (p.Thr708Ala) c.2062A>G (p.Thr688Ala) c.1966A>G (p.Thr656Ala) | |
| 6 | g.43048456T>G | CA364220504 | CUL7,KLC4 | c.1939A>C (p.Thr647Pro) n.2222A>C c.2035A>C (p.Thr679Pro) n.2238A>C n.2273A>C c.431A>C c.-553+4948T>G (n.-553+4948T>G) c.2191A>C (p.Thr731Pro) c.2095A>C (p.Thr699Pro) c.-244A>C (n.-244A>C) c.2218A>C (p.Thr740Pro) c.2122A>C (p.Thr708Pro) c.2062A>C (p.Thr688Pro) c.1966A>C (p.Thr656Pro) | |
| 6 | g.43048456_43048457delinsTC | CA1624357375 | CUL7,KLC4 | c.1938_1939delinsGA (p.Gly646=) n.2221_2222delinsGA c.2034_2035delinsGA (p.Gly678=) n.2237_2238delinsGA n.2272_2273delinsGA c.430_431delinsGA c.-553+4948_-553+4949delinsTC (n.-553+4948_-553+4949delinsTC) c.2190_2191delinsGA (p.Gly730=) c.2094_2095delinsGA (p.Gly698=) c.-245_-244delinsGA (n.-245_-244delinsGA) c.2217_2218delinsGA (p.Gly739=) c.2121_2122delinsGA (p.Gly707=) c.2061_2062delinsGA (p.Gly687=) c.1965_1966delinsGA (p.Gly655=) | |
| 6 | g.43048457C>A | CA450261968 | CUL7,KLC4 | c.1938G>T (p.Gly646=) n.2221G>T c.2034G>T (p.Gly678=) n.2237G>T n.2272G>T c.430G>T c.-553+4949C>A (n.-553+4949C>A) c.2190G>T (p.Gly730=) c.2094G>T (p.Gly698=) c.-245G>T (n.-245G>T) c.2217G>T (p.Gly739=) c.2121G>T (p.Gly707=) c.2061G>T (p.Gly687=) c.1965G>T (p.Gly655=) | |
| 6 | g.43048457C= | CA1624357376 | CUL7,KLC4 | c.1938G= (p.Gly646=) n.2221G= c.2034G= (p.Gly678=) n.2237G= n.2272G= c.430G= c.-553+4949C= (n.-553+4949C=) c.2190G= (p.Gly730=) c.2094G= (p.Gly698=) c.-245G= (n.-245G=) c.2217G= (p.Gly739=) c.2121G= (p.Gly707=) c.2061G= (p.Gly687=) c.1965G= (p.Gly655=) | |
| 6 | g.43048457C>G | CA450261970 | CUL7,KLC4 | c.1938G>C (p.Gly646=) n.2221G>C c.2034G>C (p.Gly678=) n.2237G>C n.2272G>C c.430G>C c.-553+4949C>G (n.-553+4949C>G) c.2190G>C (p.Gly730=) c.2094G>C (p.Gly698=) c.-245G>C (n.-245G>C) c.2217G>C (p.Gly739=) c.2121G>C (p.Gly707=) c.2061G>C (p.Gly687=) c.1965G>C (p.Gly655=) | |
| 6 | g.43048457C>T | CA138249279 | CUL7,KLC4 | c.1938G>A (p.Gly646=) n.2221G>A c.2034G>A (p.Gly678=) n.2237G>A n.2272G>A c.430G>A c.-553+4949C>T (n.-553+4949C>T) c.2190G>A (p.Gly730=) c.2094G>A (p.Gly698=) c.-245G>A (n.-245G>A) c.2217G>A (p.Gly739=) c.2121G>A (p.Gly707=) c.2061G>A (p.Gly687=) c.1965G>A (p.Gly655=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.43048460dup | CA2695206337 | CUL7,KLC4 | c.1938dup (p.Thr647AspfsTer?) n.2221dup c.2034dup (p.Thr679AspfsTer?) n.2237dup n.2272dup c.430dup c.-553+4952dup (n.-553+4952dup) c.2190dup (p.Thr731AspfsTer?) c.2094dup (p.Thr699AspfsTer?) c.-245dup (n.-245dup) c.2217dup (p.Thr740AspfsTer?) c.2121dup (p.Thr708AspfsTer?) c.2061dup (p.Thr688AspfsTer?) c.1965dup (p.Thr656AspfsTer?) | |
| 6 | g.43048460del | CA567150903 | CUL7,KLC4 | c.1938del (p.Thr647ProfsTer23) n.2221del c.2034del (p.Thr679ProfsTer23) n.2237del n.2272del c.430del c.-553+4952del (n.-553+4952del) c.2190del (p.Thr731ProfsTer23) c.2094del (p.Thr699ProfsTer23) c.-245del (n.-245del) c.2217del (p.Thr740ProfsTer23) c.2121del (p.Thr708ProfsTer23) c.2061del (p.Thr688ProfsTer23) c.1965del (p.Thr656ProfsTer23) | dbSNP gnomAD v2 |
| 6 | g.43048458C>A | CA364220508 | CUL7,KLC4 | c.1937G>T (p.Gly646Val) n.2220G>T c.2033G>T (p.Gly678Val) n.2236G>T n.2271G>T c.429G>T c.-553+4950C>A (n.-553+4950C>A) c.2189G>T (p.Gly730Val) c.2093G>T (p.Gly698Val) c.-246G>T (n.-246G>T) c.2216G>T (p.Gly739Val) c.2120G>T (p.Gly707Val) c.2060G>T (p.Gly687Val) c.1964G>T (p.Gly655Val) | |
| 6 | g.43048458C>G | CA364220512 | CUL7,KLC4 | c.1937G>C (p.Gly646Ala) n.2220G>C c.2033G>C (p.Gly678Ala) n.2236G>C n.2271G>C c.429G>C c.-553+4950C>G (n.-553+4950C>G) c.2189G>C (p.Gly730Ala) c.2093G>C (p.Gly698Ala) c.-246G>C (n.-246G>C) c.2216G>C (p.Gly739Ala) c.2120G>C (p.Gly707Ala) c.2060G>C (p.Gly687Ala) c.1964G>C (p.Gly655Ala) | |
| 6 | g.43048458C>T | CA364220514 | CUL7,KLC4 | c.1937G>A (p.Gly646Glu) n.2220G>A c.2033G>A (p.Gly678Glu) n.2236G>A n.2271G>A c.429G>A c.-553+4950C>T (n.-553+4950C>T) c.2189G>A (p.Gly730Glu) c.2093G>A (p.Gly698Glu) c.-246G>A (n.-246G>A) c.2216G>A (p.Gly739Glu) c.2120G>A (p.Gly707Glu) c.2060G>A (p.Gly687Glu) c.1964G>A (p.Gly655Glu) | gnomAD v4 |
| 6 | g.43048459C>A | CA364220516 | CUL7,KLC4 | c.1936G>T (p.Gly646Trp) n.2219G>T c.2032G>T (p.Gly678Trp) n.2235G>T n.2270G>T c.428G>T c.-553+4951C>A (n.-553+4951C>A) c.2188G>T (p.Gly730Trp) c.2092G>T (p.Gly698Trp) c.-247G>T (n.-247G>T) c.2215G>T (p.Gly739Trp) c.2119G>T (p.Gly707Trp) c.2059G>T (p.Gly687Trp) c.1963G>T (p.Gly655Trp) | |
| 6 | g.43048459C>G | CA364220519 | CUL7,KLC4 | c.1936G>C (p.Gly646Arg) n.2219G>C c.2032G>C (p.Gly678Arg) n.2235G>C n.2270G>C c.428G>C c.-553+4951C>G (n.-553+4951C>G) c.2188G>C (p.Gly730Arg) c.2092G>C (p.Gly698Arg) c.-247G>C (n.-247G>C) c.2215G>C (p.Gly739Arg) c.2119G>C (p.Gly707Arg) c.2059G>C (p.Gly687Arg) c.1963G>C (p.Gly655Arg) | |
| 6 | g.43048459C>T | CA364220521 | CUL7,KLC4 | c.1936G>A (p.Gly646Arg) n.2219G>A c.2032G>A (p.Gly678Arg) n.2235G>A n.2270G>A c.428G>A c.-553+4951C>T (n.-553+4951C>T) c.2188G>A (p.Gly730Arg) c.2092G>A (p.Gly698Arg) c.-247G>A (n.-247G>A) c.2215G>A (p.Gly739Arg) c.2119G>A (p.Gly707Arg) c.2059G>A (p.Gly687Arg) c.1963G>A (p.Gly655Arg) | |
| 6 | g.43048460C>A | CA364220525 | CUL7,KLC4 | c.1935G>T (p.Glu645Asp) n.2218G>T c.2031G>T (p.Glu677Asp) n.2234G>T n.2269G>T c.427G>T c.-553+4952C>A (n.-553+4952C>A) c.2187G>T (p.Glu729Asp) c.2091G>T (p.Glu697Asp) c.-248G>T (n.-248G>T) c.2214G>T (p.Glu738Asp) c.2118G>T (p.Glu706Asp) c.2058G>T (p.Glu686Asp) c.1962G>T (p.Glu654Asp) | |
| 6 | g.43048460C>G | CA364220528 | CUL7,KLC4 | c.1935G>C (p.Glu645Asp) n.2218G>C c.2031G>C (p.Glu677Asp) n.2234G>C n.2269G>C c.427G>C c.-553+4952C>G (n.-553+4952C>G) c.2187G>C (p.Glu729Asp) c.2091G>C (p.Glu697Asp) c.-248G>C (n.-248G>C) c.2214G>C (p.Glu738Asp) c.2118G>C (p.Glu706Asp) c.2058G>C (p.Glu686Asp) c.1962G>C (p.Glu654Asp) | |
| 6 | g.43048460C>T | CA450261976 | CUL7,KLC4 | c.1935G>A (p.Glu645=) n.2218G>A c.2031G>A (p.Glu677=) n.2234G>A n.2269G>A c.427G>A c.-553+4952C>T (n.-553+4952C>T) c.2187G>A (p.Glu729=) c.2091G>A (p.Glu697=) c.-248G>A (n.-248G>A) c.2214G>A (p.Glu738=) c.2118G>A (p.Glu706=) c.2058G>A (p.Glu686=) c.1962G>A (p.Glu654=) | |
| 6 | g.43048461T>A | CA364220532 | CUL7,KLC4 | c.1934A>T (p.Glu645Val) n.2217A>T c.2030A>T (p.Glu677Val) n.2233A>T n.2268A>T c.426A>T c.-553+4953T>A (n.-553+4953T>A) c.2186A>T (p.Glu729Val) c.2090A>T (p.Glu697Val) c.-249A>T (n.-249A>T) c.2213A>T (p.Glu738Val) c.2117A>T (p.Glu706Val) c.2057A>T (p.Glu686Val) c.1961A>T (p.Glu654Val) | |
| 6 | g.43048461T>C | CA364220537 | CUL7,KLC4 | c.1934A>G (p.Glu645Gly) n.2217A>G c.2030A>G (p.Glu677Gly) n.2233A>G n.2268A>G c.426A>G c.-553+4953T>C (n.-553+4953T>C) c.2186A>G (p.Glu729Gly) c.2090A>G (p.Glu697Gly) c.-249A>G (n.-249A>G) c.2213A>G (p.Glu738Gly) c.2117A>G (p.Glu706Gly) c.2057A>G (p.Glu686Gly) c.1961A>G (p.Glu654Gly) | |
| 6 | g.43048461T>G | CA364220549 | CUL7,KLC4 | c.1934A>C (p.Glu645Ala) n.2217A>C c.2030A>C (p.Glu677Ala) n.2233A>C n.2268A>C c.426A>C c.-553+4953T>G (n.-553+4953T>G) c.2186A>C (p.Glu729Ala) c.2090A>C (p.Glu697Ala) c.-249A>C (n.-249A>C) c.2213A>C (p.Glu738Ala) c.2117A>C (p.Glu706Ala) c.2057A>C (p.Glu686Ala) c.1961A>C (p.Glu654Ala) | gnomAD v4 |
| 6 | g.43048462C>A | CA364220553 | CUL7,KLC4 | c.1933G>T (p.Glu645Ter) n.2216G>T c.2029G>T (p.Glu677Ter) n.2232G>T n.2267G>T c.425G>T c.-553+4954C>A (n.-553+4954C>A) c.2185G>T (p.Glu729Ter) c.2089G>T (p.Glu697Ter) c.-250G>T (n.-250G>T) c.2212G>T (p.Glu738Ter) c.2116G>T (p.Glu706Ter) c.2056G>T (p.Glu686Ter) c.1960G>T (p.Glu654Ter) | |
| 6 | g.43048462C>G | CA364220551 | CUL7,KLC4 | c.1933G>C (p.Glu645Gln) n.2216G>C c.2029G>C (p.Glu677Gln) n.2232G>C n.2267G>C c.425G>C c.-553+4954C>G (n.-553+4954C>G) c.2185G>C (p.Glu729Gln) c.2089G>C (p.Glu697Gln) c.-250G>C (n.-250G>C) c.2212G>C (p.Glu738Gln) c.2116G>C (p.Glu706Gln) c.2056G>C (p.Glu686Gln) c.1960G>C (p.Glu654Gln) | |
| 6 | g.43048462C>T | CA364220552 | CUL7,KLC4 | c.1933G>A (p.Glu645Lys) n.2216G>A c.2029G>A (p.Glu677Lys) n.2232G>A n.2267G>A c.425G>A c.-553+4954C>T (n.-553+4954C>T) c.2185G>A (p.Glu729Lys) c.2089G>A (p.Glu697Lys) c.-250G>A (n.-250G>A) c.2212G>A (p.Glu738Lys) c.2116G>A (p.Glu706Lys) c.2056G>A (p.Glu686Lys) c.1960G>A (p.Glu654Lys) |