Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.43048549T>ACA364221258CUL7,KLC4c.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)
6g.43048549T>CCA3814052CUL7,KLC4c.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
6g.43048549T>GCA364221265CUL7,KLC4c.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)
6g.43048549T=CA1624357423CUL7,KLC4c.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=)
6g.43048550C>ACA364221273CUL7,KLC4c.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)
6g.43048550C>GCA364221274CUL7,KLC4c.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)
6g.43048550C>TCA450262169CUL7,KLC4c.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=)
6g.43048551T>ACA364221278CUL7,KLC4c.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)
6g.43048551T>CCA3814053CUL7,KLC4c.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
6g.43048551T>GCA364221282CUL7,KLC4c.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)
6g.43048551T=CA1624357424CUL7,KLC4c.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=)
6g.43048552G>ACA364221283CUL7,KLC4c.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
6g.43048552G>CCA364221285CUL7,KLC4c.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)
6g.43048552G>TCA364221284CUL7,KLC4c.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)
6g.43048553A>CCA450262172CUL7,KLC4c.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=)
6g.43048553A>GCA450262173CUL7,KLC4c.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=)
6g.43048553A>TCA450262171CUL7,KLC4c.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=)
6g.43048554G>ACA364221288CUL7,KLC4c.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)
6g.43048554G>CCA364221291CUL7,KLC4c.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)
6g.43048554G=CA1624357425CUL7,KLC4c.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=)
6g.43048554G>TCA3814054CUL7,KLC4c.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
6g.43048555A>CCA364221299CUL7,KLC4c.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)
6g.43048555A>GCA364221302CUL7,KLC4c.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
6g.43048555A>TCA364221305CUL7,KLC4c.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)
6g.43048556T>ACA450262176CUL7,KLC4c.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=)
6g.43048556T>CCA450262177CUL7,KLC4c.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=)
6g.43048556T>GCA450262178CUL7,KLC4c.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=)
6g.43048557G>ACA364221308CUL7,KLC4c.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)
6g.43048557G>CCA364221309CUL7,KLC4c.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)
6g.43048557G>TCA364221310CUL7,KLC4c.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)
6g.43048561delCA2582341699CUL7,KLC4c.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
6g.43048558G>ACA364221313CUL7,KLC4c.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)
6g.43048558G>CCA364221321CUL7,KLC4c.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)
6g.43048558G>TCA364221323CUL7,KLC4c.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
6g.43048559G>ACA450262182CUL7,KLC4c.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
6g.43048559G>CCA450262183CUL7,KLC4c.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=)
6g.43048559G>TCA450262184CUL7,KLC4c.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=)
6g.43048560G>ACA364221333CUL7,KLC4c.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
6g.43048560G>CCA364221331CUL7,KLC4c.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
6g.43048560G=CA1624357426CUL7,KLC4c.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=)
6g.43048560G>TCA364221329CUL7,KLC4c.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)
6g.43048561G>ACA364221334CUL7,KLC4c.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
6g.43048561G>CCA364221335CUL7,KLC4c.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
6g.43048561G=CA1624357427CUL7,KLC4c.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=)
6g.43048561G>TCA364221337CUL7,KLC4c.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)
6g.43048562T>ACA364221342CUL7,KLC4c.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)
6g.43048562T>CCA450262185CUL7,KLC4c.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=)
6g.43048562T>GCA364221343CUL7,KLC4c.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)
6g.43048563T>ACA364221345CUL7,KLC4c.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)
6g.43048563T>CCA364221346CUL7,KLC4c.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)

Number of alleles fetched