Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.43048549T>A | CA364221258 | CUL7,KLC4 | c.1846A>T (p.Ser616Cys) n.2129A>T c.1942A>T (p.Ser648Cys) n.2145A>T n.2180A>T c.338A>T c.-553+5041T>A (n.-553+5041T>A) c.2098A>T (p.Ser700Cys) c.2002A>T (p.Ser668Cys) c.-337A>T (n.-337A>T) c.2125A>T (p.Ser709Cys) c.2029A>T (p.Ser677Cys) c.1969A>T (p.Ser657Cys) c.1873A>T (p.Ser625Cys) | |
6 | g.43048549T>C | CA3814052 | CUL7,KLC4 | c.1846A>G (p.Ser616Gly) n.2129A>G c.1942A>G (p.Ser648Gly) n.2145A>G n.2180A>G c.338A>G c.-553+5041T>C (n.-553+5041T>C) c.2098A>G (p.Ser700Gly) c.2002A>G (p.Ser668Gly) c.-337A>G (n.-337A>G) c.2125A>G (p.Ser709Gly) c.2029A>G (p.Ser677Gly) c.1969A>G (p.Ser657Gly) c.1873A>G (p.Ser625Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048549T>G | CA364221265 | CUL7,KLC4 | c.1846A>C (p.Ser616Arg) n.2129A>C c.1942A>C (p.Ser648Arg) n.2145A>C n.2180A>C c.338A>C c.-553+5041T>G (n.-553+5041T>G) c.2098A>C (p.Ser700Arg) c.2002A>C (p.Ser668Arg) c.-337A>C (n.-337A>C) c.2125A>C (p.Ser709Arg) c.2029A>C (p.Ser677Arg) c.1969A>C (p.Ser657Arg) c.1873A>C (p.Ser625Arg) | |
6 | g.43048549T= | CA1624357423 | CUL7,KLC4 | c.1846A= (p.Ser616=) n.2129A= c.1942A= (p.Ser648=) n.2145A= n.2180A= c.338A= c.-553+5041T= (n.-553+5041T=) c.2098A= (p.Ser700=) c.2002A= (p.Ser668=) c.-337A= (n.-337A=) c.2125A= (p.Ser709=) c.2029A= (p.Ser677=) c.1969A= (p.Ser657=) c.1873A= (p.Ser625=) | |
6 | g.43048550C>A | CA364221273 | CUL7,KLC4 | c.1845G>T (p.Gln615His) n.2128G>T c.1941G>T (p.Gln647His) n.2144G>T n.2179G>T c.337G>T c.-553+5042C>A (n.-553+5042C>A) c.2097G>T (p.Gln699His) c.2001G>T (p.Gln667His) c.-338G>T (n.-338G>T) c.2124G>T (p.Gln708His) c.2028G>T (p.Gln676His) c.1968G>T (p.Gln656His) c.1872G>T (p.Gln624His) | |
6 | g.43048550C>G | CA364221274 | CUL7,KLC4 | c.1845G>C (p.Gln615His) n.2128G>C c.1941G>C (p.Gln647His) n.2144G>C n.2179G>C c.337G>C c.-553+5042C>G (n.-553+5042C>G) c.2097G>C (p.Gln699His) c.2001G>C (p.Gln667His) c.-338G>C (n.-338G>C) c.2124G>C (p.Gln708His) c.2028G>C (p.Gln676His) c.1968G>C (p.Gln656His) c.1872G>C (p.Gln624His) | |
6 | g.43048550C>T | CA450262169 | CUL7,KLC4 | c.1845G>A (p.Gln615=) n.2128G>A c.1941G>A (p.Gln647=) n.2144G>A n.2179G>A c.337G>A c.-553+5042C>T (n.-553+5042C>T) c.2097G>A (p.Gln699=) c.2001G>A (p.Gln667=) c.-338G>A (n.-338G>A) c.2124G>A (p.Gln708=) c.2028G>A (p.Gln676=) c.1968G>A (p.Gln656=) c.1872G>A (p.Gln624=) | |
6 | g.43048551T>A | CA364221278 | CUL7,KLC4 | c.1844A>T (p.Gln615Leu) n.2127A>T c.1940A>T (p.Gln647Leu) n.2143A>T n.2178A>T c.336A>T c.-553+5043T>A (n.-553+5043T>A) c.2096A>T (p.Gln699Leu) c.2000A>T (p.Gln667Leu) c.-339A>T (n.-339A>T) c.2123A>T (p.Gln708Leu) c.2027A>T (p.Gln676Leu) c.1967A>T (p.Gln656Leu) c.1871A>T (p.Gln624Leu) | |
6 | g.43048551T>C | CA3814053 | CUL7,KLC4 | c.1844A>G (p.Gln615Arg) n.2127A>G c.1940A>G (p.Gln647Arg) n.2143A>G n.2178A>G c.336A>G c.-553+5043T>C (n.-553+5043T>C) c.2096A>G (p.Gln699Arg) c.2000A>G (p.Gln667Arg) c.-339A>G (n.-339A>G) c.2123A>G (p.Gln708Arg) c.2027A>G (p.Gln676Arg) c.1967A>G (p.Gln656Arg) c.1871A>G (p.Gln624Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.43048551T>G | CA364221282 | CUL7,KLC4 | c.1844A>C (p.Gln615Pro) n.2127A>C c.1940A>C (p.Gln647Pro) n.2143A>C n.2178A>C c.336A>C c.-553+5043T>G (n.-553+5043T>G) c.2096A>C (p.Gln699Pro) c.2000A>C (p.Gln667Pro) c.-339A>C (n.-339A>C) c.2123A>C (p.Gln708Pro) c.2027A>C (p.Gln676Pro) c.1967A>C (p.Gln656Pro) c.1871A>C (p.Gln624Pro) | |
6 | g.43048551T= | CA1624357424 | CUL7,KLC4 | c.1844A= (p.Gln615=) n.2127A= c.1940A= (p.Gln647=) n.2143A= n.2178A= c.336A= c.-553+5043T= (n.-553+5043T=) c.2096A= (p.Gln699=) c.2000A= (p.Gln667=) c.-339A= (n.-339A=) c.2123A= (p.Gln708=) c.2027A= (p.Gln676=) c.1967A= (p.Gln656=) c.1871A= (p.Gln624=) | |
6 | g.43048552G>A | CA364221283 | CUL7,KLC4 | c.1843C>T (p.Gln615Ter) n.2126C>T c.1939C>T (p.Gln647Ter) n.2142C>T n.2177C>T c.335C>T c.-553+5044G>A (n.-553+5044G>A) c.2095C>T (p.Gln699Ter) c.1999C>T (p.Gln667Ter) c.-340C>T (n.-340C>T) c.2122C>T (p.Gln708Ter) c.2026C>T (p.Gln676Ter) c.1966C>T (p.Gln656Ter) c.1870C>T (p.Gln624Ter) | gnomAD v4 |
6 | g.43048552G>C | CA364221285 | CUL7,KLC4 | c.1843C>G (p.Gln615Glu) n.2126C>G c.1939C>G (p.Gln647Glu) n.2142C>G n.2177C>G c.335C>G c.-553+5044G>C (n.-553+5044G>C) c.2095C>G (p.Gln699Glu) c.1999C>G (p.Gln667Glu) c.-340C>G (n.-340C>G) c.2122C>G (p.Gln708Glu) c.2026C>G (p.Gln676Glu) c.1966C>G (p.Gln656Glu) c.1870C>G (p.Gln624Glu) | |
6 | g.43048552G>T | CA364221284 | CUL7,KLC4 | c.1843C>A (p.Gln615Lys) n.2126C>A c.1939C>A (p.Gln647Lys) n.2142C>A n.2177C>A c.335C>A c.-553+5044G>T (n.-553+5044G>T) c.2095C>A (p.Gln699Lys) c.1999C>A (p.Gln667Lys) c.-340C>A (n.-340C>A) c.2122C>A (p.Gln708Lys) c.2026C>A (p.Gln676Lys) c.1966C>A (p.Gln656Lys) c.1870C>A (p.Gln624Lys) | |
6 | g.43048553A>C | CA450262172 | CUL7,KLC4 | c.1842T>G (p.Ser614=) n.2125T>G c.1938T>G (p.Ser646=) n.2141T>G n.2176T>G c.334T>G c.-553+5045A>C (n.-553+5045A>C) c.2094T>G (p.Ser698=) c.1998T>G (p.Ser666=) c.-341T>G (n.-341T>G) c.2121T>G (p.Ser707=) c.2025T>G (p.Ser675=) c.1965T>G (p.Ser655=) c.1869T>G (p.Ser623=) | |
6 | g.43048553A>G | CA450262173 | CUL7,KLC4 | c.1842T>C (p.Ser614=) n.2125T>C c.1938T>C (p.Ser646=) n.2141T>C n.2176T>C c.334T>C c.-553+5045A>G (n.-553+5045A>G) c.2094T>C (p.Ser698=) c.1998T>C (p.Ser666=) c.-341T>C (n.-341T>C) c.2121T>C (p.Ser707=) c.2025T>C (p.Ser675=) c.1965T>C (p.Ser655=) c.1869T>C (p.Ser623=) | |
6 | g.43048553A>T | CA450262171 | CUL7,KLC4 | c.1842T>A (p.Ser614=) n.2125T>A c.1938T>A (p.Ser646=) n.2141T>A n.2176T>A c.334T>A c.-553+5045A>T (n.-553+5045A>T) c.2094T>A (p.Ser698=) c.1998T>A (p.Ser666=) c.-341T>A (n.-341T>A) c.2121T>A (p.Ser707=) c.2025T>A (p.Ser675=) c.1965T>A (p.Ser655=) c.1869T>A (p.Ser623=) | |
6 | g.43048554G>A | CA364221288 | CUL7,KLC4 | c.1841C>T (p.Ser614Phe) n.2124C>T c.1937C>T (p.Ser646Phe) n.2140C>T n.2175C>T c.333C>T c.-553+5046G>A (n.-553+5046G>A) c.2093C>T (p.Ser698Phe) c.1997C>T (p.Ser666Phe) c.-342C>T (n.-342C>T) c.2120C>T (p.Ser707Phe) c.2024C>T (p.Ser675Phe) c.1964C>T (p.Ser655Phe) c.1868C>T (p.Ser623Phe) | |
6 | g.43048554G>C | CA364221291 | CUL7,KLC4 | c.1841C>G (p.Ser614Cys) n.2124C>G c.1937C>G (p.Ser646Cys) n.2140C>G n.2175C>G c.333C>G c.-553+5046G>C (n.-553+5046G>C) c.2093C>G (p.Ser698Cys) c.1997C>G (p.Ser666Cys) c.-342C>G (n.-342C>G) c.2120C>G (p.Ser707Cys) c.2024C>G (p.Ser675Cys) c.1964C>G (p.Ser655Cys) c.1868C>G (p.Ser623Cys) | |
6 | g.43048554G= | CA1624357425 | CUL7,KLC4 | c.1841C= (p.Ser614=) n.2124C= c.1937C= (p.Ser646=) n.2140C= n.2175C= c.333C= c.-553+5046G= (n.-553+5046G=) c.2093C= (p.Ser698=) c.1997C= (p.Ser666=) c.-342C= (n.-342C=) c.2120C= (p.Ser707=) c.2024C= (p.Ser675=) c.1964C= (p.Ser655=) c.1868C= (p.Ser623=) | |
6 | g.43048554G>T | CA3814054 | CUL7,KLC4 | c.1841C>A (p.Ser614Tyr) n.2124C>A c.1937C>A (p.Ser646Tyr) n.2140C>A n.2175C>A c.333C>A c.-553+5046G>T (n.-553+5046G>T) c.2093C>A (p.Ser698Tyr) c.1997C>A (p.Ser666Tyr) c.-342C>A (n.-342C>A) c.2120C>A (p.Ser707Tyr) c.2024C>A (p.Ser675Tyr) c.1964C>A (p.Ser655Tyr) c.1868C>A (p.Ser623Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.43048555A>C | CA364221299 | CUL7,KLC4 | c.1840T>G (p.Ser614Ala) n.2123T>G c.1936T>G (p.Ser646Ala) n.2139T>G n.2174T>G c.332T>G c.-553+5047A>C (n.-553+5047A>C) c.2092T>G (p.Ser698Ala) c.1996T>G (p.Ser666Ala) c.-343T>G (n.-343T>G) c.2119T>G (p.Ser707Ala) c.2023T>G (p.Ser675Ala) c.1963T>G (p.Ser655Ala) c.1867T>G (p.Ser623Ala) | |
6 | g.43048555A>G | CA364221302 | CUL7,KLC4 | c.1840T>C (p.Ser614Pro) n.2123T>C c.1936T>C (p.Ser646Pro) n.2139T>C n.2174T>C c.332T>C c.-553+5047A>G (n.-553+5047A>G) c.2092T>C (p.Ser698Pro) c.1996T>C (p.Ser666Pro) c.-343T>C (n.-343T>C) c.2119T>C (p.Ser707Pro) c.2023T>C (p.Ser675Pro) c.1963T>C (p.Ser655Pro) c.1867T>C (p.Ser623Pro) | gnomAD v4 |
6 | g.43048555A>T | CA364221305 | CUL7,KLC4 | c.1840T>A (p.Ser614Thr) n.2123T>A c.1936T>A (p.Ser646Thr) n.2139T>A n.2174T>A c.332T>A c.-553+5047A>T (n.-553+5047A>T) c.2092T>A (p.Ser698Thr) c.1996T>A (p.Ser666Thr) c.-343T>A (n.-343T>A) c.2119T>A (p.Ser707Thr) c.2023T>A (p.Ser675Thr) c.1963T>A (p.Ser655Thr) c.1867T>A (p.Ser623Thr) | |
6 | g.43048556T>A | CA450262176 | CUL7,KLC4 | c.1839A>T (p.Pro613=) n.2122A>T c.1935A>T (p.Pro645=) n.2138A>T n.2173A>T c.331A>T c.-553+5048T>A (n.-553+5048T>A) c.2091A>T (p.Pro697=) c.1995A>T (p.Pro665=) c.-344A>T (n.-344A>T) c.2118A>T (p.Pro706=) c.2022A>T (p.Pro674=) c.1962A>T (p.Pro654=) c.1866A>T (p.Pro622=) | |
6 | g.43048556T>C | CA450262177 | CUL7,KLC4 | c.1839A>G (p.Pro613=) n.2122A>G c.1935A>G (p.Pro645=) n.2138A>G n.2173A>G c.331A>G c.-553+5048T>C (n.-553+5048T>C) c.2091A>G (p.Pro697=) c.1995A>G (p.Pro665=) c.-344A>G (n.-344A>G) c.2118A>G (p.Pro706=) c.2022A>G (p.Pro674=) c.1962A>G (p.Pro654=) c.1866A>G (p.Pro622=) | |
6 | g.43048556T>G | CA450262178 | CUL7,KLC4 | c.1839A>C (p.Pro613=) n.2122A>C c.1935A>C (p.Pro645=) n.2138A>C n.2173A>C c.331A>C c.-553+5048T>G (n.-553+5048T>G) c.2091A>C (p.Pro697=) c.1995A>C (p.Pro665=) c.-344A>C (n.-344A>C) c.2118A>C (p.Pro706=) c.2022A>C (p.Pro674=) c.1962A>C (p.Pro654=) c.1866A>C (p.Pro622=) | |
6 | g.43048557G>A | CA364221308 | CUL7,KLC4 | c.1838C>T (p.Pro613Leu) n.2121C>T c.1934C>T (p.Pro645Leu) n.2137C>T n.2172C>T c.330C>T c.-553+5049G>A (n.-553+5049G>A) c.2090C>T (p.Pro697Leu) c.1994C>T (p.Pro665Leu) c.-345C>T (n.-345C>T) c.2117C>T (p.Pro706Leu) c.2021C>T (p.Pro674Leu) c.1961C>T (p.Pro654Leu) c.1865C>T (p.Pro622Leu) | |
6 | g.43048557G>C | CA364221309 | CUL7,KLC4 | c.1838C>G (p.Pro613Arg) n.2121C>G c.1934C>G (p.Pro645Arg) n.2137C>G n.2172C>G c.330C>G c.-553+5049G>C (n.-553+5049G>C) c.2090C>G (p.Pro697Arg) c.1994C>G (p.Pro665Arg) c.-345C>G (n.-345C>G) c.2117C>G (p.Pro706Arg) c.2021C>G (p.Pro674Arg) c.1961C>G (p.Pro654Arg) c.1865C>G (p.Pro622Arg) | |
6 | g.43048557G>T | CA364221310 | CUL7,KLC4 | c.1838C>A (p.Pro613Gln) n.2121C>A c.1934C>A (p.Pro645Gln) n.2137C>A n.2172C>A c.330C>A c.-553+5049G>T (n.-553+5049G>T) c.2090C>A (p.Pro697Gln) c.1994C>A (p.Pro665Gln) c.-345C>A (n.-345C>A) c.2117C>A (p.Pro706Gln) c.2021C>A (p.Pro674Gln) c.1961C>A (p.Pro654Gln) c.1865C>A (p.Pro622Gln) | |
6 | g.43048561del | CA2582341699 | CUL7,KLC4 | c.1838del (p.Pro613HisfsTer26) n.2121del c.1934del (p.Pro645HisfsTer26) n.2137del n.2172del c.330del c.-553+5053del (n.-553+5053del) c.2090del (p.Pro697HisfsTer26) c.1994del (p.Pro665HisfsTer26) c.-345del (n.-345del) c.2117del (p.Pro706HisfsTer26) c.2021del (p.Pro674HisfsTer26) c.1961del (p.Pro654HisfsTer26) c.1865del (p.Pro622HisfsTer26) | gnomAD v4 |
6 | g.43048558G>A | CA364221313 | CUL7,KLC4 | c.1837C>T (p.Pro613Ser) n.2120C>T c.1933C>T (p.Pro645Ser) n.2136C>T n.2171C>T c.329C>T c.-553+5050G>A (n.-553+5050G>A) c.2089C>T (p.Pro697Ser) c.1993C>T (p.Pro665Ser) c.-346C>T (n.-346C>T) c.2116C>T (p.Pro706Ser) c.2020C>T (p.Pro674Ser) c.1960C>T (p.Pro654Ser) c.1864C>T (p.Pro622Ser) | |
6 | g.43048558G>C | CA364221321 | CUL7,KLC4 | c.1837C>G (p.Pro613Ala) n.2120C>G c.1933C>G (p.Pro645Ala) n.2136C>G n.2171C>G c.329C>G c.-553+5050G>C (n.-553+5050G>C) c.2089C>G (p.Pro697Ala) c.1993C>G (p.Pro665Ala) c.-346C>G (n.-346C>G) c.2116C>G (p.Pro706Ala) c.2020C>G (p.Pro674Ala) c.1960C>G (p.Pro654Ala) c.1864C>G (p.Pro622Ala) | |
6 | g.43048558G>T | CA364221323 | CUL7,KLC4 | c.1837C>A (p.Pro613Thr) n.2120C>A c.1933C>A (p.Pro645Thr) n.2136C>A n.2171C>A c.329C>A c.-553+5050G>T (n.-553+5050G>T) c.2089C>A (p.Pro697Thr) c.1993C>A (p.Pro665Thr) c.-346C>A (n.-346C>A) c.2116C>A (p.Pro706Thr) c.2020C>A (p.Pro674Thr) c.1960C>A (p.Pro654Thr) c.1864C>A (p.Pro622Thr) | COSMIC COSMIC |
6 | g.43048559G>A | CA450262182 | CUL7,KLC4 | c.1836C>T (p.Pro612=) n.2119C>T c.1932C>T (p.Pro644=) n.2135C>T n.2170C>T c.328C>T c.-553+5051G>A (n.-553+5051G>A) c.2088C>T (p.Pro696=) c.1992C>T (p.Pro664=) c.-347C>T (n.-347C>T) c.2115C>T (p.Pro705=) c.2019C>T (p.Pro673=) c.1959C>T (p.Pro653=) c.1863C>T (p.Pro621=) | gnomAD v4 |
6 | g.43048559G>C | CA450262183 | CUL7,KLC4 | c.1836C>G (p.Pro612=) n.2119C>G c.1932C>G (p.Pro644=) n.2135C>G n.2170C>G c.328C>G c.-553+5051G>C (n.-553+5051G>C) c.2088C>G (p.Pro696=) c.1992C>G (p.Pro664=) c.-347C>G (n.-347C>G) c.2115C>G (p.Pro705=) c.2019C>G (p.Pro673=) c.1959C>G (p.Pro653=) c.1863C>G (p.Pro621=) | |
6 | g.43048559G>T | CA450262184 | CUL7,KLC4 | c.1836C>A (p.Pro612=) n.2119C>A c.1932C>A (p.Pro644=) n.2135C>A n.2170C>A c.328C>A c.-553+5051G>T (n.-553+5051G>T) c.2088C>A (p.Pro696=) c.1992C>A (p.Pro664=) c.-347C>A (n.-347C>A) c.2115C>A (p.Pro705=) c.2019C>A (p.Pro673=) c.1959C>A (p.Pro653=) c.1863C>A (p.Pro621=) | |
6 | g.43048560G>A | CA364221333 | CUL7,KLC4 | c.1835C>T (p.Pro612Leu) n.2118C>T c.1931C>T (p.Pro644Leu) n.2134C>T n.2169C>T c.327C>T c.-553+5052G>A (n.-553+5052G>A) c.2087C>T (p.Pro696Leu) c.1991C>T (p.Pro664Leu) c.-348C>T (n.-348C>T) c.2114C>T (p.Pro705Leu) c.2018C>T (p.Pro673Leu) c.1958C>T (p.Pro653Leu) c.1862C>T (p.Pro621Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048560G>C | CA364221331 | CUL7,KLC4 | c.1835C>G (p.Pro612Arg) n.2118C>G c.1931C>G (p.Pro644Arg) n.2134C>G n.2169C>G c.327C>G c.-553+5052G>C (n.-553+5052G>C) c.2087C>G (p.Pro696Arg) c.1991C>G (p.Pro664Arg) c.-348C>G (n.-348C>G) c.2114C>G (p.Pro705Arg) c.2018C>G (p.Pro673Arg) c.1958C>G (p.Pro653Arg) c.1862C>G (p.Pro621Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048560G= | CA1624357426 | CUL7,KLC4 | c.1835C= (p.Pro612=) n.2118C= c.1931C= (p.Pro644=) n.2134C= n.2169C= c.327C= c.-553+5052G= (n.-553+5052G=) c.2087C= (p.Pro696=) c.1991C= (p.Pro664=) c.-348C= (n.-348C=) c.2114C= (p.Pro705=) c.2018C= (p.Pro673=) c.1958C= (p.Pro653=) c.1862C= (p.Pro621=) | |
6 | g.43048560G>T | CA364221329 | CUL7,KLC4 | c.1835C>A (p.Pro612His) n.2118C>A c.1931C>A (p.Pro644His) n.2134C>A n.2169C>A c.327C>A c.-553+5052G>T (n.-553+5052G>T) c.2087C>A (p.Pro696His) c.1991C>A (p.Pro664His) c.-348C>A (n.-348C>A) c.2114C>A (p.Pro705His) c.2018C>A (p.Pro673His) c.1958C>A (p.Pro653His) c.1862C>A (p.Pro621His) | |
6 | g.43048561G>A | CA364221334 | CUL7,KLC4 | c.1834C>T (p.Pro612Ser) n.2117C>T c.1930C>T (p.Pro644Ser) n.2133C>T n.2168C>T c.326C>T c.-553+5053G>A (n.-553+5053G>A) c.2086C>T (p.Pro696Ser) c.1990C>T (p.Pro664Ser) c.-349C>T (n.-349C>T) c.2113C>T (p.Pro705Ser) c.2017C>T (p.Pro673Ser) c.1957C>T (p.Pro653Ser) c.1861C>T (p.Pro621Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048561G>C | CA364221335 | CUL7,KLC4 | c.1834C>G (p.Pro612Ala) n.2117C>G c.1930C>G (p.Pro644Ala) n.2133C>G n.2168C>G c.326C>G c.-553+5053G>C (n.-553+5053G>C) c.2086C>G (p.Pro696Ala) c.1990C>G (p.Pro664Ala) c.-349C>G (n.-349C>G) c.2113C>G (p.Pro705Ala) c.2017C>G (p.Pro673Ala) c.1957C>G (p.Pro653Ala) c.1861C>G (p.Pro621Ala) | gnomAD v4 |
6 | g.43048561G= | CA1624357427 | CUL7,KLC4 | c.1834C= (p.Pro612=) n.2117C= c.1930C= (p.Pro644=) n.2133C= n.2168C= c.326C= c.-553+5053G= (n.-553+5053G=) c.2086C= (p.Pro696=) c.1990C= (p.Pro664=) c.-349C= (n.-349C=) c.2113C= (p.Pro705=) c.2017C= (p.Pro673=) c.1957C= (p.Pro653=) c.1861C= (p.Pro621=) | |
6 | g.43048561G>T | CA364221337 | CUL7,KLC4 | c.1834C>A (p.Pro612Thr) n.2117C>A c.1930C>A (p.Pro644Thr) n.2133C>A n.2168C>A c.326C>A c.-553+5053G>T (n.-553+5053G>T) c.2086C>A (p.Pro696Thr) c.1990C>A (p.Pro664Thr) c.-349C>A (n.-349C>A) c.2113C>A (p.Pro705Thr) c.2017C>A (p.Pro673Thr) c.1957C>A (p.Pro653Thr) c.1861C>A (p.Pro621Thr) | |
6 | g.43048562T>A | CA364221342 | CUL7,KLC4 | c.1833A>T (p.Glu611Asp) n.2116A>T c.1929A>T (p.Glu643Asp) n.2132A>T n.2167A>T c.325A>T c.-553+5054T>A (n.-553+5054T>A) c.2085A>T (p.Glu695Asp) c.1989A>T (p.Glu663Asp) c.-350A>T (n.-350A>T) c.2112A>T (p.Glu704Asp) c.2016A>T (p.Glu672Asp) c.1956A>T (p.Glu652Asp) c.1860A>T (p.Glu620Asp) | |
6 | g.43048562T>C | CA450262185 | CUL7,KLC4 | c.1833A>G (p.Glu611=) n.2116A>G c.1929A>G (p.Glu643=) n.2132A>G n.2167A>G c.325A>G c.-553+5054T>C (n.-553+5054T>C) c.2085A>G (p.Glu695=) c.1989A>G (p.Glu663=) c.-350A>G (n.-350A>G) c.2112A>G (p.Glu704=) c.2016A>G (p.Glu672=) c.1956A>G (p.Glu652=) c.1860A>G (p.Glu620=) | |
6 | g.43048562T>G | CA364221343 | CUL7,KLC4 | c.1833A>C (p.Glu611Asp) n.2116A>C c.1929A>C (p.Glu643Asp) n.2132A>C n.2167A>C c.325A>C c.-553+5054T>G (n.-553+5054T>G) c.2085A>C (p.Glu695Asp) c.1989A>C (p.Glu663Asp) c.-350A>C (n.-350A>C) c.2112A>C (p.Glu704Asp) c.2016A>C (p.Glu672Asp) c.1956A>C (p.Glu652Asp) c.1860A>C (p.Glu620Asp) | |
6 | g.43048563T>A | CA364221345 | CUL7,KLC4 | c.1832A>T (p.Glu611Val) n.2115A>T c.1928A>T (p.Glu643Val) n.2131A>T n.2166A>T c.324A>T c.-553+5055T>A (n.-553+5055T>A) c.2084A>T (p.Glu695Val) c.1988A>T (p.Glu663Val) c.-351A>T (n.-351A>T) c.2111A>T (p.Glu704Val) c.2015A>T (p.Glu672Val) c.1955A>T (p.Glu652Val) c.1859A>T (p.Glu620Val) | |
6 | g.43048563T>C | CA364221346 | CUL7,KLC4 | c.1832A>G (p.Glu611Gly) n.2115A>G c.1928A>G (p.Glu643Gly) n.2131A>G n.2166A>G c.324A>G c.-553+5055T>C (n.-553+5055T>C) c.2084A>G (p.Glu695Gly) c.1988A>G (p.Glu663Gly) c.-351A>G (n.-351A>G) c.2111A>G (p.Glu704Gly) c.2015A>G (p.Glu672Gly) c.1955A>G (p.Glu652Gly) c.1859A>G (p.Glu620Gly) |