Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.43048452T>ACA364220487CUL7,KLC4c.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)
6g.43048452T>CCA364220486CUL7,KLC4c.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)
6g.43048452T>GCA364220484CUL7,KLC4c.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
6g.43048453G>ACA364220490CUL7,KLC4c.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)
6g.43048453G>CCA364220496CUL7,KLC4c.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)
6g.43048453G>TCA364220492CUL7,KLC4c.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)
6g.43048454G>ACA450261962CUL7,KLC4c.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
6g.43048454G>CCA450261964CUL7,KLC4c.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=)
6g.43048454G=CA1624357373CUL7,KLC4c.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=)
6g.43048454G>TCA450261966CUL7,KLC4c.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
6g.43048455G>ACA3814036CUL7,KLC4c.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
6g.43048455G>CCA364220502CUL7,KLC4c.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)
6g.43048455G=CA1624357374CUL7,KLC4c.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=)
6g.43048455G>TCA364220501CUL7,KLC4c.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)
6g.43048456T>ACA364220503CUL7,KLC4c.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)
6g.43048456T>CCA364220505CUL7,KLC4c.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)
6g.43048456T>GCA364220504CUL7,KLC4c.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)
6g.43048456_43048457delinsTCCA1624357375CUL7,KLC4c.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=)
6g.43048457C>ACA450261968CUL7,KLC4c.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=)
6g.43048457C=CA1624357376CUL7,KLC4c.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=)
6g.43048457C>GCA450261970CUL7,KLC4c.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=)
6g.43048457C>TCA138249279CUL7,KLC4c.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
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.43048458C>ACA364220508CUL7,KLC4c.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)
6g.43048458C>GCA364220512CUL7,KLC4c.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)
6g.43048458C>TCA364220514CUL7,KLC4c.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
6g.43048459C>ACA364220516CUL7,KLC4c.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)
6g.43048459C>GCA364220519CUL7,KLC4c.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)
6g.43048459C>TCA364220521CUL7,KLC4c.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)
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

Number of alleles fetched