Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25891724C>ACA409805416APPn.2176G>T
n.606G>T
n.875G>T
c.2209G>T (p.Glu737Ter)
c.1984G>T (p.Glu662Ter)
c.1816G>T (p.Glu606Ter)
c.2152G>T (p.Glu718Ter)
c.2155G>T (p.Glu719Ter)
c.1879G>T (p.Glu627Ter)
c.2041G>T (p.Glu681Ter)
c.2137G>T (p.Glu713Ter)
n.556G>T
c.2098G>T (p.Glu700Ter)
c.1930G>T (p.Glu644Ter)
21g.25891724C>GCA409805417APPn.2176G>C
n.606G>C
n.875G>C
c.2209G>C (p.Glu737Gln)
c.1984G>C (p.Glu662Gln)
c.1816G>C (p.Glu606Gln)
c.2152G>C (p.Glu718Gln)
c.2155G>C (p.Glu719Gln)
c.1879G>C (p.Glu627Gln)
c.2041G>C (p.Glu681Gln)
c.2137G>C (p.Glu713Gln)
n.556G>C
c.2098G>C (p.Glu700Gln)
c.1930G>C (p.Glu644Gln)
21g.25891724C>TCA409805418APPn.2176G>A
n.606G>A
n.875G>A
c.2209G>A (p.Glu737Lys)
c.1984G>A (p.Glu662Lys)
c.1816G>A (p.Glu606Lys)
c.2152G>A (p.Glu718Lys)
c.2155G>A (p.Glu719Lys)
c.1879G>A (p.Glu627Lys)
c.2041G>A (p.Glu681Lys)
c.2137G>A (p.Glu713Lys)
n.556G>A
c.2098G>A (p.Glu700Lys)
c.1930G>A (p.Glu644Lys)
21g.25891725C>ACA511685954APPn.2175G>T
n.605G>T
n.874G>T
c.2208G>T (p.Val736=)
c.1983G>T (p.Val661=)
c.1815G>T (p.Val605=)
c.2151G>T (p.Val717=)
c.2154G>T (p.Val718=)
c.1878G>T (p.Val626=)
c.2040G>T (p.Val680=)
c.2136G>T (p.Val712=)
n.555G>T
c.2097G>T (p.Val699=)
c.1929G>T (p.Val643=)
21g.25891725C=CA2383551593APPn.2175G=
n.605G=
n.874G=
c.2208G= (p.Val736=)
c.1983G= (p.Val661=)
c.1815G= (p.Val605=)
c.2151G= (p.Val717=)
c.2154G= (p.Val718=)
c.1878G= (p.Val626=)
c.2040G= (p.Val680=)
c.2136G= (p.Val712=)
n.555G=
c.2097G= (p.Val699=)
c.1929G= (p.Val643=)
21g.25891725C>GCA511685955APPn.2175G>C
n.605G>C
n.874G>C
c.2208G>C (p.Val736=)
c.1983G>C (p.Val661=)
c.1815G>C (p.Val605=)
c.2151G>C (p.Val717=)
c.2154G>C (p.Val718=)
c.1878G>C (p.Val626=)
c.2040G>C (p.Val680=)
c.2136G>C (p.Val712=)
n.555G>C
c.2097G>C (p.Val699=)
c.1929G>C (p.Val643=)
21g.25891725C>TCA9987047APPn.2175G>A
n.605G>A
n.874G>A
c.2208G>A (p.Val736=)
c.1983G>A (p.Val661=)
c.1815G>A (p.Val605=)
c.2151G>A (p.Val717=)
c.2154G>A (p.Val718=)
c.1878G>A (p.Val626=)
c.2040G>A (p.Val680=)
c.2136G>A (p.Val712=)
n.555G>A
c.2097G>A (p.Val699=)
c.1929G>A (p.Val643=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25891726A>CCA409805419APPn.2174T>G
n.604T>G
n.873T>G
c.2207T>G (p.Val736Gly)
c.1982T>G (p.Val661Gly)
c.1814T>G (p.Val605Gly)
c.2150T>G (p.Val717Gly)
c.2153T>G (p.Val718Gly)
c.1877T>G (p.Val626Gly)
c.2039T>G (p.Val680Gly)
c.2135T>G (p.Val712Gly)
n.554T>G
c.2096T>G (p.Val699Gly)
c.1928T>G (p.Val643Gly)
21g.25891726A>GCA409805420APPn.2174T>C
n.604T>C
n.873T>C
c.2207T>C (p.Val736Ala)
c.1982T>C (p.Val661Ala)
c.1814T>C (p.Val605Ala)
c.2150T>C (p.Val717Ala)
c.2153T>C (p.Val718Ala)
c.1877T>C (p.Val626Ala)
c.2039T>C (p.Val680Ala)
c.2135T>C (p.Val712Ala)
n.554T>C
c.2096T>C (p.Val699Ala)
c.1928T>C (p.Val643Ala)
21g.25891726A>TCA409805421APPn.2174T>A
n.604T>A
n.873T>A
c.2207T>A (p.Val736Glu)
c.1982T>A (p.Val661Glu)
c.1814T>A (p.Val605Glu)
c.2150T>A (p.Val717Glu)
c.2153T>A (p.Val718Glu)
c.1877T>A (p.Val626Glu)
c.2039T>A (p.Val680Glu)
c.2135T>A (p.Val712Glu)
n.554T>A
c.2096T>A (p.Val699Glu)
c.1928T>A (p.Val643Glu)
21g.25891727C>ACA409805423APPn.2173G>T
n.603G>T
n.872G>T
c.2206G>T (p.Val736Leu)
c.1981G>T (p.Val661Leu)
c.1813G>T (p.Val605Leu)
c.2149G>T (p.Val717Leu)
c.2152G>T (p.Val718Leu)
c.1876G>T (p.Val626Leu)
c.2038G>T (p.Val680Leu)
c.2134G>T (p.Val712Leu)
n.553G>T
c.2095G>T (p.Val699Leu)
c.1927G>T (p.Val643Leu)
gnomAD v4
21g.25891727C>GCA409805424APPn.2173G>C
n.603G>C
n.872G>C
c.2206G>C (p.Val736Leu)
c.1981G>C (p.Val661Leu)
c.1813G>C (p.Val605Leu)
c.2149G>C (p.Val717Leu)
c.2152G>C (p.Val718Leu)
c.1876G>C (p.Val626Leu)
c.2038G>C (p.Val680Leu)
c.2134G>C (p.Val712Leu)
n.553G>C
c.2095G>C (p.Val699Leu)
c.1927G>C (p.Val643Leu)
21g.25891727C>TCA409805422APPn.2173G>A
n.603G>A
n.872G>A
c.2206G>A (p.Val736Met)
c.1981G>A (p.Val661Met)
c.1813G>A (p.Val605Met)
c.2149G>A (p.Val717Met)
c.2152G>A (p.Val718Met)
c.1876G>A (p.Val626Met)
c.2038G>A (p.Val680Met)
c.2134G>A (p.Val712Met)
n.553G>A
c.2095G>A (p.Val699Met)
c.1927G>A (p.Val643Met)
21g.25891728C>ACA511685957APPn.2172G>T
n.602G>T
n.871G>T
c.2205G>T (p.Val735=)
c.1980G>T (p.Val660=)
c.1812G>T (p.Val604=)
c.2148G>T (p.Val716=)
c.2151G>T (p.Val717=)
c.1875G>T (p.Val625=)
c.2037G>T (p.Val679=)
c.2133G>T (p.Val711=)
n.552G>T
c.2094G>T (p.Val698=)
c.1926G>T (p.Val642=)
21g.25891728C=CA2383551594APPn.2172G=
n.602G=
n.871G=
c.2205G= (p.Val735=)
c.1980G= (p.Val660=)
c.1812G= (p.Val604=)
c.2148G= (p.Val716=)
c.2151G= (p.Val717=)
c.1875G= (p.Val625=)
c.2037G= (p.Val679=)
c.2133G= (p.Val711=)
n.552G=
c.2094G= (p.Val698=)
c.1926G= (p.Val642=)
21g.25891728C>GCA511685956APPn.2172G>C
n.602G>C
n.871G>C
c.2205G>C (p.Val735=)
c.1980G>C (p.Val660=)
c.1812G>C (p.Val604=)
c.2148G>C (p.Val716=)
c.2151G>C (p.Val717=)
c.1875G>C (p.Val625=)
c.2037G>C (p.Val679=)
c.2133G>C (p.Val711=)
n.552G>C
c.2094G>C (p.Val698=)
c.1926G>C (p.Val642=)
dbSNP
21g.25891728C>TCA511685958APPn.2172G>A
n.602G>A
n.871G>A
c.2205G>A (p.Val735=)
c.1980G>A (p.Val660=)
c.1812G>A (p.Val604=)
c.2148G>A (p.Val716=)
c.2151G>A (p.Val717=)
c.1875G>A (p.Val625=)
c.2037G>A (p.Val679=)
c.2133G>A (p.Val711=)
n.552G>A
c.2094G>A (p.Val698=)
c.1926G>A (p.Val642=)
21g.25891729A>CCA409805425APPn.2171T>G
n.601T>G
n.870T>G
c.2204T>G (p.Val735Gly)
c.1979T>G (p.Val660Gly)
c.1811T>G (p.Val604Gly)
c.2147T>G (p.Val716Gly)
c.2150T>G (p.Val717Gly)
c.1874T>G (p.Val625Gly)
c.2036T>G (p.Val679Gly)
c.2132T>G (p.Val711Gly)
n.551T>G
c.2093T>G (p.Val698Gly)
c.1925T>G (p.Val642Gly)
21g.25891729A>GCA409805426APPn.2171T>C
n.601T>C
n.870T>C
c.2204T>C (p.Val735Ala)
c.1979T>C (p.Val660Ala)
c.1811T>C (p.Val604Ala)
c.2147T>C (p.Val716Ala)
c.2150T>C (p.Val717Ala)
c.1874T>C (p.Val625Ala)
c.2036T>C (p.Val679Ala)
c.2132T>C (p.Val711Ala)
n.551T>C
c.2093T>C (p.Val698Ala)
c.1925T>C (p.Val642Ala)
21g.25891729A>TCA409805427APPn.2171T>A
n.601T>A
n.870T>A
c.2204T>A (p.Val735Glu)
c.1979T>A (p.Val660Glu)
c.1811T>A (p.Val604Glu)
c.2147T>A (p.Val716Glu)
c.2150T>A (p.Val717Glu)
c.1874T>A (p.Val625Glu)
c.2036T>A (p.Val679Glu)
c.2132T>A (p.Val711Glu)
n.551T>A
c.2093T>A (p.Val698Glu)
c.1925T>A (p.Val642Glu)
21g.25891730C>ACA409805428APPn.2170G>T
n.600G>T
n.869G>T
c.2203G>T (p.Val735Leu)
c.1978G>T (p.Val660Leu)
c.1810G>T (p.Val604Leu)
c.2146G>T (p.Val716Leu)
c.2149G>T (p.Val717Leu)
c.1873G>T (p.Val625Leu)
c.2035G>T (p.Val679Leu)
c.2131G>T (p.Val711Leu)
n.550G>T
c.2092G>T (p.Val698Leu)
c.1924G>T (p.Val642Leu)
21g.25891730C=CA2383551595APPn.2170G=
n.600G=
n.869G=
c.2203G= (p.Val735=)
c.1978G= (p.Val660=)
c.1810G= (p.Val604=)
c.2146G= (p.Val716=)
c.2149G= (p.Val717=)
c.1873G= (p.Val625=)
c.2035G= (p.Val679=)
c.2131G= (p.Val711=)
n.550G=
c.2092G= (p.Val698=)
c.1924G= (p.Val642=)
21g.25891730C>GCA409805429APPn.2170G>C
n.600G>C
n.869G>C
c.2203G>C (p.Val735Leu)
c.1978G>C (p.Val660Leu)
c.1810G>C (p.Val604Leu)
c.2146G>C (p.Val716Leu)
c.2149G>C (p.Val717Leu)
c.1873G>C (p.Val625Leu)
c.2035G>C (p.Val679Leu)
c.2131G>C (p.Val711Leu)
n.550G>C
c.2092G>C (p.Val698Leu)
c.1924G>C (p.Val642Leu)
21g.25891730C>TCA409805430APPn.2170G>A
n.600G>A
n.869G>A
c.2203G>A (p.Val735Met)
c.1978G>A (p.Val660Met)
c.1810G>A (p.Val604Met)
c.2146G>A (p.Val716Met)
c.2149G>A (p.Val717Met)
c.1873G>A (p.Val625Met)
c.2035G>A (p.Val679Met)
c.2131G>A (p.Val711Met)
n.550G>A
c.2092G>A (p.Val698Met)
c.1924G>A (p.Val642Met)
dbSNP gnomAD v2 gnomAD v4
21g.25891731A>CCA511685961APPn.2169T>G
n.599T>G
n.868T>G
c.2202T>G (p.Gly734=)
c.1977T>G (p.Gly659=)
c.1809T>G (p.Gly603=)
c.2145T>G (p.Gly715=)
c.2148T>G (p.Gly716=)
c.1872T>G (p.Gly624=)
c.2034T>G (p.Gly678=)
c.2130T>G (p.Gly710=)
n.549T>G
c.2091T>G (p.Gly697=)
c.1923T>G (p.Gly641=)
21g.25891731A>GCA511685960APPn.2169T>C
n.599T>C
n.868T>C
c.2202T>C (p.Gly734=)
c.1977T>C (p.Gly659=)
c.1809T>C (p.Gly603=)
c.2145T>C (p.Gly715=)
c.2148T>C (p.Gly716=)
c.1872T>C (p.Gly624=)
c.2034T>C (p.Gly678=)
c.2130T>C (p.Gly710=)
n.549T>C
c.2091T>C (p.Gly697=)
c.1923T>C (p.Gly641=)
21g.25891731A>TCA511685959APPn.2169T>A
n.599T>A
n.868T>A
c.2202T>A (p.Gly734=)
c.1977T>A (p.Gly659=)
c.1809T>A (p.Gly603=)
c.2145T>A (p.Gly715=)
c.2148T>A (p.Gly716=)
c.1872T>A (p.Gly624=)
c.2034T>A (p.Gly678=)
c.2130T>A (p.Gly710=)
n.549T>A
c.2091T>A (p.Gly697=)
c.1923T>A (p.Gly641=)
21g.25891732C>ACA409805431APPn.2168G>T
n.598G>T
n.867G>T
c.2201G>T (p.Gly734Val)
c.1976G>T (p.Gly659Val)
c.1808G>T (p.Gly603Val)
c.2144G>T (p.Gly715Val)
c.2147G>T (p.Gly716Val)
c.1871G>T (p.Gly624Val)
c.2033G>T (p.Gly678Val)
c.2129G>T (p.Gly710Val)
n.548G>T
c.2090G>T (p.Gly697Val)
c.1922G>T (p.Gly641Val)
21g.25891732C=CA2383551596APPn.2168G=
n.598G=
n.867G=
c.2201G= (p.Gly734=)
c.1976G= (p.Gly659=)
c.1808G= (p.Gly603=)
c.2144G= (p.Gly715=)
c.2147G= (p.Gly716=)
c.1871G= (p.Gly624=)
c.2033G= (p.Gly678=)
c.2129G= (p.Gly710=)
n.548G=
c.2090G= (p.Gly697=)
c.1922G= (p.Gly641=)
21g.25891732C>GCA409805433APPn.2168G>C
n.598G>C
n.867G>C
c.2201G>C (p.Gly734Ala)
c.1976G>C (p.Gly659Ala)
c.1808G>C (p.Gly603Ala)
c.2144G>C (p.Gly715Ala)
c.2147G>C (p.Gly716Ala)
c.1871G>C (p.Gly624Ala)
c.2033G>C (p.Gly678Ala)
c.2129G>C (p.Gly710Ala)
n.548G>C
c.2090G>C (p.Gly697Ala)
c.1922G>C (p.Gly641Ala)
21g.25891732C>TCA409805432APPn.2168G>A
n.598G>A
n.867G>A
c.2201G>A (p.Gly734Asp)
c.1976G>A (p.Gly659Asp)
c.1808G>A (p.Gly603Asp)
c.2144G>A (p.Gly715Asp)
c.2147G>A (p.Gly716Asp)
c.1871G>A (p.Gly624Asp)
c.2033G>A (p.Gly678Asp)
c.2129G>A (p.Gly710Asp)
n.548G>A
c.2090G>A (p.Gly697Asp)
c.1922G>A (p.Gly641Asp)
21g.25891733C>ACA409805434APPn.2167G>T
n.597G>T
n.866G>T
c.2200G>T (p.Gly734Cys)
c.1975G>T (p.Gly659Cys)
c.1807G>T (p.Gly603Cys)
c.2143G>T (p.Gly715Cys)
c.2146G>T (p.Gly716Cys)
c.1870G>T (p.Gly624Cys)
c.2032G>T (p.Gly678Cys)
c.2128G>T (p.Gly710Cys)
n.547G>T
c.2089G>T (p.Gly697Cys)
c.1921G>T (p.Gly641Cys)
21g.25891733C>GCA409805435APPn.2167G>C
n.597G>C
n.866G>C
c.2200G>C (p.Gly734Arg)
c.1975G>C (p.Gly659Arg)
c.1807G>C (p.Gly603Arg)
c.2143G>C (p.Gly715Arg)
c.2146G>C (p.Gly716Arg)
c.1870G>C (p.Gly624Arg)
c.2032G>C (p.Gly678Arg)
c.2128G>C (p.Gly710Arg)
n.547G>C
c.2089G>C (p.Gly697Arg)
c.1921G>C (p.Gly641Arg)
21g.25891733C>TCA409805436APPn.2167G>A
n.597G>A
n.866G>A
c.2200G>A (p.Gly734Ser)
c.1975G>A (p.Gly659Ser)
c.1807G>A (p.Gly603Ser)
c.2143G>A (p.Gly715Ser)
c.2146G>A (p.Gly716Ser)
c.1870G>A (p.Gly624Ser)
c.2032G>A (p.Gly678Ser)
c.2128G>A (p.Gly710Ser)
n.547G>A
c.2089G>A (p.Gly697Ser)
c.1921G>A (p.Gly641Ser)
21g.25891733_25891734dupCA2383551597APPn.2166_2167dup
n.596_597dup
n.865_866dup
c.2199_2200dup (p.Gly734ValfsTer?)
c.1974_1975dup (p.Gly659ValfsTer?)
c.1806_1807dup (p.Gly603ValfsTer?)
c.2142_2143dup (p.Gly715ValfsTer?)
c.2145_2146dup (p.Gly716ValfsTer?)
c.1869_1870dup (p.Gly624ValfsTer?)
c.2031_2032dup (p.Gly678ValfsTer?)
c.2127_2128dup (p.Gly710ValfsTer?)
n.546_547dup
c.2088_2089dup (p.Gly697ValfsTer?)
c.1920_1921dup (p.Gly641ValfsTer?)
dbSNP
21g.25891734A=CA2383551598APPn.2166T=
n.596T=
n.865T=
c.2199T= (p.His733=)
c.1974T= (p.His658=)
c.1806T= (p.His602=)
c.2142T= (p.His714=)
c.2145T= (p.His715=)
c.1869T= (p.His623=)
c.2031T= (p.His677=)
c.2127T= (p.His709=)
n.546T=
c.2088T= (p.His696=)
c.1920T= (p.His640=)
21g.25891734A>CCA409805437APPn.2166T>G
n.596T>G
n.865T>G
c.2199T>G (p.His733Gln)
c.1974T>G (p.His658Gln)
c.1806T>G (p.His602Gln)
c.2142T>G (p.His714Gln)
c.2145T>G (p.His715Gln)
c.1869T>G (p.His623Gln)
c.2031T>G (p.His677Gln)
c.2127T>G (p.His709Gln)
n.546T>G
c.2088T>G (p.His696Gln)
c.1920T>G (p.His640Gln)
21g.25891734A>GCA511685962APPn.2166T>C
n.596T>C
n.865T>C
c.2199T>C (p.His733=)
c.1974T>C (p.His658=)
c.1806T>C (p.His602=)
c.2142T>C (p.His714=)
c.2145T>C (p.His715=)
c.1869T>C (p.His623=)
c.2031T>C (p.His677=)
c.2127T>C (p.His709=)
n.546T>C
c.2088T>C (p.His696=)
c.1920T>C (p.His640=)
dbSNP gnomAD v4
21g.25891734A>TCA409805438APPn.2166T>A
n.596T>A
n.865T>A
c.2199T>A (p.His733Gln)
c.1974T>A (p.His658Gln)
c.1806T>A (p.His602Gln)
c.2142T>A (p.His714Gln)
c.2145T>A (p.His715Gln)
c.1869T>A (p.His623Gln)
c.2031T>A (p.His677Gln)
c.2127T>A (p.His709Gln)
n.546T>A
c.2088T>A (p.His696Gln)
c.1920T>A (p.His640Gln)
21g.25891735T>ACA409805440APPn.2165A>T
n.595A>T
n.864A>T
c.2198A>T (p.His733Leu)
c.1973A>T (p.His658Leu)
c.1805A>T (p.His602Leu)
c.2141A>T (p.His714Leu)
c.2144A>T (p.His715Leu)
c.1868A>T (p.His623Leu)
c.2030A>T (p.His677Leu)
c.2126A>T (p.His709Leu)
n.545A>T
c.2087A>T (p.His696Leu)
c.1919A>T (p.His640Leu)
21g.25891735T>CCA409805441APPn.2165A>G
n.595A>G
n.864A>G
c.2198A>G (p.His733Arg)
c.1973A>G (p.His658Arg)
c.1805A>G (p.His602Arg)
c.2141A>G (p.His714Arg)
c.2144A>G (p.His715Arg)
c.1868A>G (p.His623Arg)
c.2030A>G (p.His677Arg)
c.2126A>G (p.His709Arg)
n.545A>G
c.2087A>G (p.His696Arg)
c.1919A>G (p.His640Arg)
21g.25891735T>GCA409805439APPn.2165A>C
n.595A>C
n.864A>C
c.2198A>C (p.His733Pro)
c.1973A>C (p.His658Pro)
c.1805A>C (p.His602Pro)
c.2141A>C (p.His714Pro)
c.2144A>C (p.His715Pro)
c.1868A>C (p.His623Pro)
c.2030A>C (p.His677Pro)
c.2126A>C (p.His709Pro)
n.545A>C
c.2087A>C (p.His696Pro)
c.1919A>C (p.His640Pro)
dbSNP gnomAD v3 gnomAD v4
21g.25891735T=CA2383551599APPn.2165A=
n.595A=
n.864A=
c.2198A= (p.His733=)
c.1973A= (p.His658=)
c.1805A= (p.His602=)
c.2141A= (p.His714=)
c.2144A= (p.His715=)
c.1868A= (p.His623=)
c.2030A= (p.His677=)
c.2126A= (p.His709=)
n.545A=
c.2087A= (p.His696=)
c.1919A= (p.His640=)
21g.25891736G>ACA409805443APPn.2164C>T
n.594C>T
n.863C>T
c.2197C>T (p.His733Tyr)
c.1972C>T (p.His658Tyr)
c.1804C>T (p.His602Tyr)
c.2140C>T (p.His714Tyr)
c.2143C>T (p.His715Tyr)
c.1867C>T (p.His623Tyr)
c.2029C>T (p.His677Tyr)
c.2125C>T (p.His709Tyr)
n.544C>T
c.2086C>T (p.His696Tyr)
c.1918C>T (p.His640Tyr)
21g.25891736G>CCA409805442APPn.2164C>G
n.594C>G
n.863C>G
c.2197C>G (p.His733Asp)
c.1972C>G (p.His658Asp)
c.1804C>G (p.His602Asp)
c.2140C>G (p.His714Asp)
c.2143C>G (p.His715Asp)
c.1867C>G (p.His623Asp)
c.2029C>G (p.His677Asp)
c.2125C>G (p.His709Asp)
n.544C>G
c.2086C>G (p.His696Asp)
c.1918C>G (p.His640Asp)
21g.25891736G>TCA409805444APPn.2164C>A
n.594C>A
n.863C>A
c.2197C>A (p.His733Asn)
c.1972C>A (p.His658Asn)
c.1804C>A (p.His602Asn)
c.2140C>A (p.His714Asn)
c.2143C>A (p.His715Asn)
c.1867C>A (p.His623Asn)
c.2029C>A (p.His677Asn)
c.2125C>A (p.His709Asn)
n.544C>A
c.2086C>A (p.His696Asn)
c.1918C>A (p.His640Asn)
21g.25891737A=CA2383551600APPn.2163T=
n.593T=
n.862T=
c.2196T= (p.His732=)
c.1971T= (p.His657=)
c.1803T= (p.His601=)
c.2139T= (p.His713=)
c.2142T= (p.His714=)
c.1866T= (p.His622=)
c.2028T= (p.His676=)
c.2124T= (p.His708=)
n.543T=
c.2085T= (p.His695=)
c.1917T= (p.His639=)
21g.25891737A>CCA409805445APPn.2163T>G
n.593T>G
n.862T>G
c.2196T>G (p.His732Gln)
c.1971T>G (p.His657Gln)
c.1803T>G (p.His601Gln)
c.2139T>G (p.His713Gln)
c.2142T>G (p.His714Gln)
c.1866T>G (p.His622Gln)
c.2028T>G (p.His676Gln)
c.2124T>G (p.His708Gln)
n.543T>G
c.2085T>G (p.His695Gln)
c.1917T>G (p.His639Gln)
21g.25891737A>GCA511685965APPn.2163T>C
n.593T>C
n.862T>C
c.2196T>C (p.His732=)
c.1971T>C (p.His657=)
c.1803T>C (p.His601=)
c.2139T>C (p.His713=)
c.2142T>C (p.His714=)
c.1866T>C (p.His622=)
c.2028T>C (p.His676=)
c.2124T>C (p.His708=)
n.543T>C
c.2085T>C (p.His695=)
c.1917T>C (p.His639=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.25891737A>TCA409805446APPn.2163T>A
n.593T>A
n.862T>A
c.2196T>A (p.His732Gln)
c.1971T>A (p.His657Gln)
c.1803T>A (p.His601Gln)
c.2139T>A (p.His713Gln)
c.2142T>A (p.His714Gln)
c.1866T>A (p.His622Gln)
c.2028T>A (p.His676Gln)
c.2124T>A (p.His708Gln)
n.543T>A
c.2085T>A (p.His695Gln)
c.1917T>A (p.His639Gln)

Number of alleles fetched