Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.43048460dupCA2695206337CUL7,KLC4c.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?)
6g.43048460delCA567150903CUL7,KLC4c.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
6g.43048460C>ACA364220525CUL7,KLC4c.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)
6g.43048460C>GCA364220528CUL7,KLC4c.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)
6g.43048460C>TCA450261976CUL7,KLC4c.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=)
6g.43048461T>ACA364220532CUL7,KLC4c.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)
6g.43048461T>CCA364220537CUL7,KLC4c.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)
6g.43048461T>GCA364220549CUL7,KLC4c.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
6g.43048462C>ACA364220553CUL7,KLC4c.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)
6g.43048462C>GCA364220551CUL7,KLC4c.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)
6g.43048462C>TCA364220552CUL7,KLC4c.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)
6g.43048463T>ACA450261978CUL7,KLC4c.1932A>T (p.Ser644=)
n.2215A>T
c.2028A>T (p.Ser676=)
n.2231A>T
n.2266A>T
c.424A>T
c.-553+4955T>A (n.-553+4955T>A)
c.2184A>T (p.Ser728=)
c.2088A>T (p.Ser696=)
c.-251A>T (n.-251A>T)
c.2211A>T (p.Ser737=)
c.2115A>T (p.Ser705=)
c.2055A>T (p.Ser685=)
c.1959A>T (p.Ser653=)
6g.43048463T>CCA3814037CUL7,KLC4c.1932A>G (p.Ser644=)
n.2215A>G
c.2028A>G (p.Ser676=)
n.2231A>G
n.2266A>G
c.424A>G
c.-553+4955T>C (n.-553+4955T>C)
c.2184A>G (p.Ser728=)
c.2088A>G (p.Ser696=)
c.-251A>G (n.-251A>G)
c.2211A>G (p.Ser737=)
c.2115A>G (p.Ser705=)
c.2055A>G (p.Ser685=)
c.1959A>G (p.Ser653=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43048463T>GCA3814038CUL7,KLC4c.1932A>C (p.Ser644=)
n.2215A>C
c.2028A>C (p.Ser676=)
n.2231A>C
n.2266A>C
c.424A>C
c.-553+4955T>G (n.-553+4955T>G)
c.2184A>C (p.Ser728=)
c.2088A>C (p.Ser696=)
c.-251A>C (n.-251A>C)
c.2211A>C (p.Ser737=)
c.2115A>C (p.Ser705=)
c.2055A>C (p.Ser685=)
c.1959A>C (p.Ser653=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43048463T=CA1624357377CUL7,KLC4c.1932A= (p.Ser644=)
n.2215A=
c.2028A= (p.Ser676=)
n.2231A=
n.2266A=
c.424A=
c.-553+4955T= (n.-553+4955T=)
c.2184A= (p.Ser728=)
c.2088A= (p.Ser696=)
c.-251A= (n.-251A=)
c.2211A= (p.Ser737=)
c.2115A= (p.Ser705=)
c.2055A= (p.Ser685=)
c.1959A= (p.Ser653=)
6g.43048464G>ACA364220557CUL7,KLC4c.1931C>T (p.Ser644Leu)
n.2214C>T
c.2027C>T (p.Ser676Leu)
n.2230C>T
n.2265C>T
c.423C>T
c.-553+4956G>A (n.-553+4956G>A)
c.2183C>T (p.Ser728Leu)
c.2087C>T (p.Ser696Leu)
c.-252C>T (n.-252C>T)
c.2210C>T (p.Ser737Leu)
c.2114C>T (p.Ser705Leu)
c.2054C>T (p.Ser685Leu)
c.1958C>T (p.Ser653Leu)
 gnomAD v4
6g.43048464G>CCA364220561CUL7,KLC4c.1931C>G (p.Ser644Ter)
n.2214C>G
c.2027C>G (p.Ser676Ter)
n.2230C>G
n.2265C>G
c.423C>G
c.-553+4956G>C (n.-553+4956G>C)
c.2183C>G (p.Ser728Ter)
c.2087C>G (p.Ser696Ter)
c.-252C>G (n.-252C>G)
c.2210C>G (p.Ser737Ter)
c.2114C>G (p.Ser705Ter)
c.2054C>G (p.Ser685Ter)
c.1958C>G (p.Ser653Ter)
6g.43048464G>TCA364220562CUL7,KLC4c.1931C>A (p.Ser644Ter)
n.2214C>A
c.2027C>A (p.Ser676Ter)
n.2230C>A
n.2265C>A
c.423C>A
c.-553+4956G>T (n.-553+4956G>T)
c.2183C>A (p.Ser728Ter)
c.2087C>A (p.Ser696Ter)
c.-252C>A (n.-252C>A)
c.2210C>A (p.Ser737Ter)
c.2114C>A (p.Ser705Ter)
c.2054C>A (p.Ser685Ter)
c.1958C>A (p.Ser653Ter)
6g.43048465A>CCA364220565CUL7,KLC4c.1930T>G (p.Ser644Ala)
n.2213T>G
c.2026T>G (p.Ser676Ala)
n.2229T>G
n.2264T>G
c.422T>G
c.-553+4957A>C (n.-553+4957A>C)
c.2182T>G (p.Ser728Ala)
c.2086T>G (p.Ser696Ala)
c.-253T>G (n.-253T>G)
c.2209T>G (p.Ser737Ala)
c.2113T>G (p.Ser705Ala)
c.2053T>G (p.Ser685Ala)
c.1957T>G (p.Ser653Ala)
6g.43048465A>GCA364220566CUL7,KLC4c.1930T>C (p.Ser644Pro)
n.2213T>C
c.2026T>C (p.Ser676Pro)
n.2229T>C
n.2264T>C
c.422T>C
c.-553+4957A>G (n.-553+4957A>G)
c.2182T>C (p.Ser728Pro)
c.2086T>C (p.Ser696Pro)
c.-253T>C (n.-253T>C)
c.2209T>C (p.Ser737Pro)
c.2113T>C (p.Ser705Pro)
c.2053T>C (p.Ser685Pro)
c.1957T>C (p.Ser653Pro)
6g.43048465A>TCA364220570CUL7,KLC4c.1930T>A (p.Ser644Thr)
n.2213T>A
c.2026T>A (p.Ser676Thr)
n.2229T>A
n.2264T>A
c.422T>A
c.-553+4957A>T (n.-553+4957A>T)
c.2182T>A (p.Ser728Thr)
c.2086T>A (p.Ser696Thr)
c.-253T>A (n.-253T>A)
c.2209T>A (p.Ser737Thr)
c.2113T>A (p.Ser705Thr)
c.2053T>A (p.Ser685Thr)
c.1957T>A (p.Ser653Thr)
6g.43048466G>ACA450261984CUL7,KLC4c.1929C>T (p.Ser643=)
n.2212C>T
c.2025C>T (p.Ser675=)
n.2228C>T
n.2263C>T
c.421C>T
c.-553+4958G>A (n.-553+4958G>A)
c.2181C>T (p.Ser727=)
c.2085C>T (p.Ser695=)
c.-254C>T (n.-254C>T)
c.2208C>T (p.Ser736=)
c.2112C>T (p.Ser704=)
c.2052C>T (p.Ser684=)
c.1956C>T (p.Ser652=)
 gnomAD v4
6g.43048466G>CCA3814039CUL7,KLC4c.1929C>G (p.Ser643Arg)
n.2212C>G
c.2025C>G (p.Ser675Arg)
n.2228C>G
n.2263C>G
c.421C>G
c.-553+4958G>C (n.-553+4958G>C)
c.2181C>G (p.Ser727Arg)
c.2085C>G (p.Ser695Arg)
c.-254C>G (n.-254C>G)
c.2208C>G (p.Ser736Arg)
c.2112C>G (p.Ser704Arg)
c.2052C>G (p.Ser684Arg)
c.1956C>G (p.Ser652Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43048466G=CA1624357378CUL7,KLC4c.1929C= (p.Ser643=)
n.2212C=
c.2025C= (p.Ser675=)
n.2228C=
n.2263C=
c.421C=
c.-553+4958G= (n.-553+4958G=)
c.2181C= (p.Ser727=)
c.2085C= (p.Ser695=)
c.-254C= (n.-254C=)
c.2208C= (p.Ser736=)
c.2112C= (p.Ser704=)
c.2052C= (p.Ser684=)
c.1956C= (p.Ser652=)
6g.43048466G>TCA364220575CUL7,KLC4c.1929C>A (p.Ser643Arg)
n.2212C>A
c.2025C>A (p.Ser675Arg)
n.2228C>A
n.2263C>A
c.421C>A
c.-553+4958G>T (n.-553+4958G>T)
c.2181C>A (p.Ser727Arg)
c.2085C>A (p.Ser695Arg)
c.-254C>A (n.-254C>A)
c.2208C>A (p.Ser736Arg)
c.2112C>A (p.Ser704Arg)
c.2052C>A (p.Ser684Arg)
c.1956C>A (p.Ser652Arg)
6g.43048467C>ACA364220583CUL7,KLC4c.1928G>T (p.Ser643Ile)
n.2211G>T
c.2024G>T (p.Ser675Ile)
n.2227G>T
n.2262G>T
c.420G>T
c.-553+4959C>A (n.-553+4959C>A)
c.2180G>T (p.Ser727Ile)
c.2084G>T (p.Ser695Ile)
c.-255G>T (n.-255G>T)
c.2207G>T (p.Ser736Ile)
c.2111G>T (p.Ser704Ile)
c.2051G>T (p.Ser684Ile)
c.1955G>T (p.Ser652Ile)
6g.43048467C>GCA364220580CUL7,KLC4c.1928G>C (p.Ser643Thr)
n.2211G>C
c.2024G>C (p.Ser675Thr)
n.2227G>C
n.2262G>C
c.420G>C
c.-553+4959C>G (n.-553+4959C>G)
c.2180G>C (p.Ser727Thr)
c.2084G>C (p.Ser695Thr)
c.-255G>C (n.-255G>C)
c.2207G>C (p.Ser736Thr)
c.2111G>C (p.Ser704Thr)
c.2051G>C (p.Ser684Thr)
c.1955G>C (p.Ser652Thr)
6g.43048467C>TCA364220577CUL7,KLC4c.1928G>A (p.Ser643Asn)
n.2211G>A
c.2024G>A (p.Ser675Asn)
n.2227G>A
n.2262G>A
c.420G>A
c.-553+4959C>T (n.-553+4959C>T)
c.2180G>A (p.Ser727Asn)
c.2084G>A (p.Ser695Asn)
c.-255G>A (n.-255G>A)
c.2207G>A (p.Ser736Asn)
c.2111G>A (p.Ser704Asn)
c.2051G>A (p.Ser684Asn)
c.1955G>A (p.Ser652Asn)
 gnomAD v4
6g.43048468T>ACA364220586CUL7,KLC4c.1927A>T (p.Ser643Cys)
n.2210A>T
c.2023A>T (p.Ser675Cys)
n.2226A>T
n.2261A>T
c.419A>T
c.-553+4960T>A (n.-553+4960T>A)
c.2179A>T (p.Ser727Cys)
c.2083A>T (p.Ser695Cys)
c.-256A>T (n.-256A>T)
c.2206A>T (p.Ser736Cys)
c.2110A>T (p.Ser704Cys)
c.2050A>T (p.Ser684Cys)
c.1954A>T (p.Ser652Cys)
6g.43048468T>CCA364220588CUL7,KLC4c.1927A>G (p.Ser643Gly)
n.2210A>G
c.2023A>G (p.Ser675Gly)
n.2226A>G
n.2261A>G
c.419A>G
c.-553+4960T>C (n.-553+4960T>C)
c.2179A>G (p.Ser727Gly)
c.2083A>G (p.Ser695Gly)
c.-256A>G (n.-256A>G)
c.2206A>G (p.Ser736Gly)
c.2110A>G (p.Ser704Gly)
c.2050A>G (p.Ser684Gly)
c.1954A>G (p.Ser652Gly)
 dbSNP gnomAD v4
6g.43048468T>GCA364220589CUL7,KLC4c.1927A>C (p.Ser643Arg)
n.2210A>C
c.2023A>C (p.Ser675Arg)
n.2226A>C
n.2261A>C
c.419A>C
c.-553+4960T>G (n.-553+4960T>G)
c.2179A>C (p.Ser727Arg)
c.2083A>C (p.Ser695Arg)
c.-256A>C (n.-256A>C)
c.2206A>C (p.Ser736Arg)
c.2110A>C (p.Ser704Arg)
c.2050A>C (p.Ser684Arg)
c.1954A>C (p.Ser652Arg)
6g.43048468T=CA1624357379CUL7,KLC4c.1927A= (p.Ser643=)
n.2210A=
c.2023A= (p.Ser675=)
n.2226A=
n.2261A=
c.419A=
c.-553+4960T= (n.-553+4960T=)
c.2179A= (p.Ser727=)
c.2083A= (p.Ser695=)
c.-256A= (n.-256A=)
c.2206A= (p.Ser736=)
c.2110A= (p.Ser704=)
c.2050A= (p.Ser684=)
c.1954A= (p.Ser652=)
6g.43048468_43048482delinsTGAGGGCTTGCTCTACA1624357380CUL7,KLC4c.1913_1927delinsTAGAGCAAGCCCTCA (p.Leu638=)
n.2196_2210delinsTAGAGCAAGCCCTCA
c.2009_2023delinsTAGAGCAAGCCCTCA (p.Leu670=)
n.2212_2226delinsTAGAGCAAGCCCTCA
n.2247_2261delinsTAGAGCAAGCCCTCA
c.405_419delinsTAGAGCAAGCCCTCA
c.-553+4960_-553+4974delinsTGAGGGCTTGCTCTA (n.-553+4960_-553+4974delinsTGAGGGCTTGCTCTA)
c.2165_2179delinsTAGAGCAAGCCCTCA (p.Leu722=)
c.2069_2083delinsTAGAGCAAGCCCTCA (p.Leu690=)
c.-270_-256delinsTAGAGCAAGCCCTCA (n.-270_-256delinsTAGAGCAAGCCCTCA)
c.2192_2206delinsTAGAGCAAGCCCTCA (p.Leu731=)
c.2096_2110delinsTAGAGCAAGCCCTCA (p.Leu699=)
c.2036_2050delinsTAGAGCAAGCCCTCA (p.Leu679=)
c.1940_1954delinsTAGAGCAAGCCCTCA (p.Leu647=)
6g.43048469G>ACA3814040CUL7,KLC4c.1926C>T (p.Leu642=)
n.2209C>T
c.2022C>T (p.Leu674=)
n.2225C>T
n.2260C>T
c.418C>T
c.-553+4961G>A (n.-553+4961G>A)
c.2178C>T (p.Leu726=)
c.2082C>T (p.Leu694=)
c.-257C>T (n.-257C>T)
c.2205C>T (p.Leu735=)
c.2109C>T (p.Leu703=)
c.2049C>T (p.Leu683=)
c.1953C>T (p.Leu651=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43048469G>CCA450261994CUL7,KLC4c.1926C>G (p.Leu642=)
n.2209C>G
c.2022C>G (p.Leu674=)
n.2225C>G
n.2260C>G
c.418C>G
c.-553+4961G>C (n.-553+4961G>C)
c.2178C>G (p.Leu726=)
c.2082C>G (p.Leu694=)
c.-257C>G (n.-257C>G)
c.2205C>G (p.Leu735=)
c.2109C>G (p.Leu703=)
c.2049C>G (p.Leu683=)
c.1953C>G (p.Leu651=)
6g.43048469G=CA1624357381CUL7,KLC4c.1926C= (p.Leu642=)
n.2209C=
c.2022C= (p.Leu674=)
n.2225C=
n.2260C=
c.418C=
c.-553+4961G= (n.-553+4961G=)
c.2178C= (p.Leu726=)
c.2082C= (p.Leu694=)
c.-257C= (n.-257C=)
c.2205C= (p.Leu735=)
c.2109C= (p.Leu703=)
c.2049C= (p.Leu683=)
c.1953C= (p.Leu651=)
6g.43048469G>TCA450261992CUL7,KLC4c.1926C>A (p.Leu642=)
n.2209C>A
c.2022C>A (p.Leu674=)
n.2225C>A
n.2260C>A
c.418C>A
c.-553+4961G>T (n.-553+4961G>T)
c.2178C>A (p.Leu726=)
c.2082C>A (p.Leu694=)
c.-257C>A (n.-257C>A)
c.2205C>A (p.Leu735=)
c.2109C>A (p.Leu703=)
c.2049C>A (p.Leu683=)
c.1953C>A (p.Leu651=)
6g.43048471_43048484delCA1624357382CUL7,KLC4c.1913_1926del (p.Leu638GlnfsTer?)
n.2196_2209del
c.2009_2022del (p.Leu670GlnfsTer?)
n.2212_2225del
n.2247_2260del
c.405_418del
c.-553+4963_-553+4976del (n.-553+4963_-553+4976del)
c.2165_2178del (p.Leu722GlnfsTer?)
c.2069_2082del (p.Leu690GlnfsTer?)
c.-270_-257del (n.-270_-257del)
c.2192_2205del (p.Leu731GlnfsTer?)
c.2096_2109del (p.Leu699GlnfsTer?)
c.2036_2049del (p.Leu679GlnfsTer?)
c.1940_1953del (p.Leu647GlnfsTer?)
 dbSNP
6g.43048470A=CA1624357383CUL7,KLC4c.1925T= (p.Leu642=)
n.2208T=
c.2021T= (p.Leu674=)
n.2224T=
n.2259T=
c.417T=
c.-553+4962A= (n.-553+4962A=)
c.2177T= (p.Leu726=)
c.2081T= (p.Leu694=)
c.-258T= (n.-258T=)
c.2204T= (p.Leu735=)
c.2108T= (p.Leu703=)
c.2048T= (p.Leu683=)
c.1952T= (p.Leu651=)
6g.43048470A>CCA364220596CUL7,KLC4c.1925T>G (p.Leu642Arg)
n.2208T>G
c.2021T>G (p.Leu674Arg)
n.2224T>G
n.2259T>G
c.417T>G
c.-553+4962A>C (n.-553+4962A>C)
c.2177T>G (p.Leu726Arg)
c.2081T>G (p.Leu694Arg)
c.-258T>G (n.-258T>G)
c.2204T>G (p.Leu735Arg)
c.2108T>G (p.Leu703Arg)
c.2048T>G (p.Leu683Arg)
c.1952T>G (p.Leu651Arg)
6g.43048470A>GCA364220597CUL7,KLC4c.1925T>C (p.Leu642Pro)
n.2208T>C
c.2021T>C (p.Leu674Pro)
n.2224T>C
n.2259T>C
c.417T>C
c.-553+4962A>G (n.-553+4962A>G)
c.2177T>C (p.Leu726Pro)
c.2081T>C (p.Leu694Pro)
c.-258T>C (n.-258T>C)
c.2204T>C (p.Leu735Pro)
c.2108T>C (p.Leu703Pro)
c.2048T>C (p.Leu683Pro)
c.1952T>C (p.Leu651Pro)
 dbSNP gnomAD v2 gnomAD v4
6g.43048470A>TCA364220600CUL7,KLC4c.1925T>A (p.Leu642His)
n.2208T>A
c.2021T>A (p.Leu674His)
n.2224T>A
n.2259T>A
c.417T>A
c.-553+4962A>T (n.-553+4962A>T)
c.2177T>A (p.Leu726His)
c.2081T>A (p.Leu694His)
c.-258T>A (n.-258T>A)
c.2204T>A (p.Leu735His)
c.2108T>A (p.Leu703His)
c.2048T>A (p.Leu683His)
c.1952T>A (p.Leu651His)
6g.43048471G>ACA364220614CUL7,KLC4c.1924C>T (p.Leu642Phe)
n.2207C>T
c.2020C>T (p.Leu674Phe)
n.2223C>T
n.2258C>T
c.416C>T
c.-553+4963G>A (n.-553+4963G>A)
c.2176C>T (p.Leu726Phe)
c.2080C>T (p.Leu694Phe)
c.-259C>T (n.-259C>T)
c.2203C>T (p.Leu735Phe)
c.2107C>T (p.Leu703Phe)
c.2047C>T (p.Leu683Phe)
c.1951C>T (p.Leu651Phe)
 COSMIC COSMIC
6g.43048471G>CCA364220617CUL7,KLC4c.1924C>G (p.Leu642Val)
n.2207C>G
c.2020C>G (p.Leu674Val)
n.2223C>G
n.2258C>G
c.416C>G
c.-553+4963G>C (n.-553+4963G>C)
c.2176C>G (p.Leu726Val)
c.2080C>G (p.Leu694Val)
c.-259C>G (n.-259C>G)
c.2203C>G (p.Leu735Val)
c.2107C>G (p.Leu703Val)
c.2047C>G (p.Leu683Val)
c.1951C>G (p.Leu651Val)
6g.43048471G>TCA364220620CUL7,KLC4c.1924C>A (p.Leu642Ile)
n.2207C>A
c.2020C>A (p.Leu674Ile)
n.2223C>A
n.2258C>A
c.416C>A
c.-553+4963G>T (n.-553+4963G>T)
c.2176C>A (p.Leu726Ile)
c.2080C>A (p.Leu694Ile)
c.-259C>A (n.-259C>A)
c.2203C>A (p.Leu735Ile)
c.2107C>A (p.Leu703Ile)
c.2047C>A (p.Leu683Ile)
c.1951C>A (p.Leu651Ile)
6g.43048472G>ACA450261996CUL7,KLC4c.1923C>T (p.Ala641=)
n.2206C>T
c.2019C>T (p.Ala673=)
n.2222C>T
n.2257C>T
c.415C>T
c.-553+4964G>A (n.-553+4964G>A)
c.2175C>T (p.Ala725=)
c.2079C>T (p.Ala693=)
c.-260C>T (n.-260C>T)
c.2202C>T (p.Ala734=)
c.2106C>T (p.Ala702=)
c.2046C>T (p.Ala682=)
c.1950C>T (p.Ala650=)
6g.43048472G>CCA450261998CUL7,KLC4c.1923C>G (p.Ala641=)
n.2206C>G
c.2019C>G (p.Ala673=)
n.2222C>G
n.2257C>G
c.415C>G
c.-553+4964G>C (n.-553+4964G>C)
c.2175C>G (p.Ala725=)
c.2079C>G (p.Ala693=)
c.-260C>G (n.-260C>G)
c.2202C>G (p.Ala734=)
c.2106C>G (p.Ala702=)
c.2046C>G (p.Ala682=)
c.1950C>G (p.Ala650=)
 gnomAD v4
6g.43048472G>TCA450261997CUL7,KLC4c.1923C>A (p.Ala641=)
n.2206C>A
c.2019C>A (p.Ala673=)
n.2222C>A
n.2257C>A
c.415C>A
c.-553+4964G>T (n.-553+4964G>T)
c.2175C>A (p.Ala725=)
c.2079C>A (p.Ala693=)
c.-260C>A (n.-260C>A)
c.2202C>A (p.Ala734=)
c.2106C>A (p.Ala702=)
c.2046C>A (p.Ala682=)
c.1950C>A (p.Ala650=)
 COSMIC COSMIC
6g.43048473G>ACA364220623CUL7,KLC4c.1922C>T (p.Ala641Val)
n.2205C>T
c.2018C>T (p.Ala673Val)
n.2221C>T
n.2256C>T
c.414C>T
c.-553+4965G>A (n.-553+4965G>A)
c.2174C>T (p.Ala725Val)
c.2078C>T (p.Ala693Val)
c.-261C>T (n.-261C>T)
c.2201C>T (p.Ala734Val)
c.2105C>T (p.Ala702Val)
c.2045C>T (p.Ala682Val)
c.1949C>T (p.Ala650Val)
 dbSNP gnomAD v2 gnomAD v4
6g.43048473G>CCA364220628CUL7,KLC4c.1922C>G (p.Ala641Gly)
n.2205C>G
c.2018C>G (p.Ala673Gly)
n.2221C>G
n.2256C>G
c.414C>G
c.-553+4965G>C (n.-553+4965G>C)
c.2174C>G (p.Ala725Gly)
c.2078C>G (p.Ala693Gly)
c.-261C>G (n.-261C>G)
c.2201C>G (p.Ala734Gly)
c.2105C>G (p.Ala702Gly)
c.2045C>G (p.Ala682Gly)
c.1949C>G (p.Ala650Gly)

Number of alleles fetched