Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25891761C>ACA409805504APPn.2139G>T
n.569G>T
n.838G>T
c.2172G>T (p.Lys724Asn)
c.1947G>T (p.Lys649Asn)
c.1779G>T (p.Lys593Asn)
c.2115G>T (p.Lys705Asn)
c.2118G>T (p.Lys706Asn)
c.1842G>T (p.Lys614Asn)
c.2004G>T (p.Lys668Asn)
c.2100G>T (p.Lys700Asn)
n.519G>T
c.2061G>T (p.Lys687Asn)
c.1893G>T (p.Lys631Asn)
gnomAD v4
21g.25891761C=CA2383551604APPn.2139G=
n.569G=
n.838G=
c.2172G= (p.Lys724=)
c.1947G= (p.Lys649=)
c.1779G= (p.Lys593=)
c.2115G= (p.Lys705=)
c.2118G= (p.Lys706=)
c.1842G= (p.Lys614=)
c.2004G= (p.Lys668=)
c.2100G= (p.Lys700=)
n.519G=
c.2061G= (p.Lys687=)
c.1893G= (p.Lys631=)
21g.25891761C>GCA225514APPn.2139G>C
n.569G>C
n.838G>C
c.2172G>C (p.Lys724Asn)
c.1947G>C (p.Lys649Asn)
c.1779G>C (p.Lys593Asn)
c.2115G>C (p.Lys705Asn)
c.2118G>C (p.Lys706Asn)
c.1842G>C (p.Lys614Asn)
c.2004G>C (p.Lys668Asn)
c.2100G>C (p.Lys700Asn)
n.519G>C
c.2061G>C (p.Lys687Asn)
c.1893G>C (p.Lys631Asn)
ClinVar dbSNP
21g.25891761C>TCA511685976APPn.2139G>A
n.569G>A
n.838G>A
c.2172G>A (p.Lys724=)
c.1947G>A (p.Lys649=)
c.1779G>A (p.Lys593=)
c.2115G>A (p.Lys705=)
c.2118G>A (p.Lys706=)
c.1842G>A (p.Lys614=)
c.2004G>A (p.Lys668=)
c.2100G>A (p.Lys700=)
n.519G>A
c.2061G>A (p.Lys687=)
c.1893G>A (p.Lys631=)
dbSNP
21g.25891762T>ACA409805505APPn.2138A>T
n.568A>T
n.837A>T
c.2171A>T (p.Lys724Met)
c.1946A>T (p.Lys649Met)
c.1778A>T (p.Lys593Met)
c.2114A>T (p.Lys705Met)
c.2117A>T (p.Lys706Met)
c.1841A>T (p.Lys614Met)
c.2003A>T (p.Lys668Met)
c.2099A>T (p.Lys700Met)
n.518A>T
c.2060A>T (p.Lys687Met)
c.1892A>T (p.Lys631Met)
21g.25891762T>CCA409805507APPn.2138A>G
n.568A>G
n.837A>G
c.2171A>G (p.Lys724Arg)
c.1946A>G (p.Lys649Arg)
c.1778A>G (p.Lys593Arg)
c.2114A>G (p.Lys705Arg)
c.2117A>G (p.Lys706Arg)
c.1841A>G (p.Lys614Arg)
c.2003A>G (p.Lys668Arg)
c.2099A>G (p.Lys700Arg)
n.518A>G
c.2060A>G (p.Lys687Arg)
c.1892A>G (p.Lys631Arg)
21g.25891762T>GCA409805506APPn.2138A>C
n.568A>C
n.837A>C
c.2171A>C (p.Lys724Thr)
c.1946A>C (p.Lys649Thr)
c.1778A>C (p.Lys593Thr)
c.2114A>C (p.Lys705Thr)
c.2117A>C (p.Lys706Thr)
c.1841A>C (p.Lys614Thr)
c.2003A>C (p.Lys668Thr)
c.2099A>C (p.Lys700Thr)
n.518A>C
c.2060A>C (p.Lys687Thr)
c.1892A>C (p.Lys631Thr)
21g.25891763T>ACA409805508APPn.2137A>T
n.567A>T
n.836A>T
c.2170A>T (p.Lys724Ter)
c.1945A>T (p.Lys649Ter)
c.1777A>T (p.Lys593Ter)
c.2113A>T (p.Lys705Ter)
c.2116A>T (p.Lys706Ter)
c.1840A>T (p.Lys614Ter)
c.2002A>T (p.Lys668Ter)
c.2098A>T (p.Lys700Ter)
n.517A>T
c.2059A>T (p.Lys687Ter)
c.1891A>T (p.Lys631Ter)
21g.25891763T>CCA409805509APPn.2137A>G
n.567A>G
n.836A>G
c.2170A>G (p.Lys724Glu)
c.1945A>G (p.Lys649Glu)
c.1777A>G (p.Lys593Glu)
c.2113A>G (p.Lys705Glu)
c.2116A>G (p.Lys706Glu)
c.1840A>G (p.Lys614Glu)
c.2002A>G (p.Lys668Glu)
c.2098A>G (p.Lys700Glu)
n.517A>G
c.2059A>G (p.Lys687Glu)
c.1891A>G (p.Lys631Glu)
21g.25891763T>GCA409805510APPn.2137A>C
n.567A>C
n.836A>C
c.2170A>C (p.Lys724Gln)
c.1945A>C (p.Lys649Gln)
c.1777A>C (p.Lys593Gln)
c.2113A>C (p.Lys705Gln)
c.2116A>C (p.Lys706Gln)
c.1840A>C (p.Lys614Gln)
c.2002A>C (p.Lys668Gln)
c.2098A>C (p.Lys700Gln)
n.517A>C
c.2059A>C (p.Lys687Gln)
c.1891A>C (p.Lys631Gln)
21g.25891764C>ACA511685977APPn.2136G>T
n.566G>T
n.835G>T
c.2169G>T (p.Leu723=)
c.1944G>T (p.Leu648=)
c.1776G>T (p.Leu592=)
c.2112G>T (p.Leu704=)
c.2115G>T (p.Leu705=)
c.1839G>T (p.Leu613=)
c.2001G>T (p.Leu667=)
c.2097G>T (p.Leu699=)
n.516G>T
c.2058G>T (p.Leu686=)
c.1890G>T (p.Leu630=)
21g.25891764C>GCA511685978APPn.2136G>C
n.566G>C
n.835G>C
c.2169G>C (p.Leu723=)
c.1944G>C (p.Leu648=)
c.1776G>C (p.Leu592=)
c.2112G>C (p.Leu704=)
c.2115G>C (p.Leu705=)
c.1839G>C (p.Leu613=)
c.2001G>C (p.Leu667=)
c.2097G>C (p.Leu699=)
n.516G>C
c.2058G>C (p.Leu686=)
c.1890G>C (p.Leu630=)
gnomAD v4
21g.25891764C>TCA511685979APPn.2136G>A
n.566G>A
n.835G>A
c.2169G>A (p.Leu723=)
c.1944G>A (p.Leu648=)
c.1776G>A (p.Leu592=)
c.2112G>A (p.Leu704=)
c.2115G>A (p.Leu705=)
c.1839G>A (p.Leu613=)
c.2001G>A (p.Leu667=)
c.2097G>A (p.Leu699=)
n.516G>A
c.2058G>A (p.Leu686=)
c.1890G>A (p.Leu630=)
gnomAD v4
21g.25891766_25891768delCA2654122406APPn.2134_2136del
n.564_566del
n.833_835del
c.2167_2169del (p.Leu723del)
c.1942_1944del (p.Leu648del)
c.1774_1776del (p.Leu592del)
c.2110_2112del (p.Leu704del)
c.2113_2115del (p.Leu705del)
c.1837_1839del (p.Leu613del)
c.1999_2001del (p.Leu667del)
c.2095_2097del (p.Leu699del)
n.514_516del
c.2056_2058del (p.Leu686del)
c.1888_1890del (p.Leu630del)
gnomAD v4
21g.25891765A=CA2383551605APPn.2135T=
n.565T=
n.834T=
c.2168T= (p.Leu723=)
c.1943T= (p.Leu648=)
c.1775T= (p.Leu592=)
c.2111T= (p.Leu704=)
c.2114T= (p.Leu705=)
c.1838T= (p.Leu613=)
c.2000T= (p.Leu667=)
c.2096T= (p.Leu699=)
n.515T=
c.2057T= (p.Leu686=)
c.1889T= (p.Leu630=)
21g.25891765A>CCA409805511APPn.2135T>G
n.565T>G
n.834T>G
c.2168T>G (p.Leu723Arg)
c.1943T>G (p.Leu648Arg)
c.1775T>G (p.Leu592Arg)
c.2111T>G (p.Leu704Arg)
c.2114T>G (p.Leu705Arg)
c.1838T>G (p.Leu613Arg)
c.2000T>G (p.Leu667Arg)
c.2096T>G (p.Leu699Arg)
n.515T>G
c.2057T>G (p.Leu686Arg)
c.1889T>G (p.Leu630Arg)
21g.25891765A>GCA225513APPn.2135T>C
n.565T>C
n.834T>C
c.2168T>C (p.Leu723Pro)
c.1943T>C (p.Leu648Pro)
c.1775T>C (p.Leu592Pro)
c.2111T>C (p.Leu704Pro)
c.2114T>C (p.Leu705Pro)
c.1838T>C (p.Leu613Pro)
c.2000T>C (p.Leu667Pro)
c.2096T>C (p.Leu699Pro)
n.515T>C
c.2057T>C (p.Leu686Pro)
c.1889T>C (p.Leu630Pro)
ClinVar dbSNP gnomAD v4
21g.25891765A>TCA409805512APPn.2135T>A
n.565T>A
n.834T>A
c.2168T>A (p.Leu723Gln)
c.1943T>A (p.Leu648Gln)
c.1775T>A (p.Leu592Gln)
c.2111T>A (p.Leu704Gln)
c.2114T>A (p.Leu705Gln)
c.1838T>A (p.Leu613Gln)
c.2000T>A (p.Leu667Gln)
c.2096T>A (p.Leu699Gln)
n.515T>A
c.2057T>A (p.Leu686Gln)
c.1889T>A (p.Leu630Gln)
21g.25891766G>ACA511685980APPn.2134C>T
n.564C>T
n.833C>T
c.2167C>T (p.Leu723=)
c.1942C>T (p.Leu648=)
c.1774C>T (p.Leu592=)
c.2110C>T (p.Leu704=)
c.2113C>T (p.Leu705=)
c.1837C>T (p.Leu613=)
c.1999C>T (p.Leu667=)
c.2095C>T (p.Leu699=)
n.514C>T
c.2056C>T (p.Leu686=)
c.1888C>T (p.Leu630=)
gnomAD v4
21g.25891766G>CCA409805513APPn.2134C>G
n.564C>G
n.833C>G
c.2167C>G (p.Leu723Val)
c.1942C>G (p.Leu648Val)
c.1774C>G (p.Leu592Val)
c.2110C>G (p.Leu704Val)
c.2113C>G (p.Leu705Val)
c.1837C>G (p.Leu613Val)
c.1999C>G (p.Leu667Val)
c.2095C>G (p.Leu699Val)
n.514C>G
c.2056C>G (p.Leu686Val)
c.1888C>G (p.Leu630Val)
21g.25891766G>TCA409805514APPn.2134C>A
n.564C>A
n.833C>A
c.2167C>A (p.Leu723Met)
c.1942C>A (p.Leu648Met)
c.1774C>A (p.Leu592Met)
c.2110C>A (p.Leu704Met)
c.2113C>A (p.Leu705Met)
c.1837C>A (p.Leu613Met)
c.1999C>A (p.Leu667Met)
c.2095C>A (p.Leu699Met)
n.514C>A
c.2056C>A (p.Leu686Met)
c.1888C>A (p.Leu630Met)
21g.25891767C>ACA409805515APPn.2133G>T
n.563G>T
n.832G>T
c.2166G>T (p.Met722Ile)
c.1941G>T (p.Met647Ile)
c.1773G>T (p.Met591Ile)
c.2109G>T (p.Met703Ile)
c.2112G>T (p.Met704Ile)
c.1836G>T (p.Met612Ile)
c.1998G>T (p.Met666Ile)
c.2094G>T (p.Met698Ile)
n.513G>T
c.2055G>T (p.Met685Ile)
c.1887G>T (p.Met629Ile)
21g.25891767C>GCA409805516APPn.2133G>C
n.563G>C
n.832G>C
c.2166G>C (p.Met722Ile)
c.1941G>C (p.Met647Ile)
c.1773G>C (p.Met591Ile)
c.2109G>C (p.Met703Ile)
c.2112G>C (p.Met704Ile)
c.1836G>C (p.Met612Ile)
c.1998G>C (p.Met666Ile)
c.2094G>C (p.Met698Ile)
n.513G>C
c.2055G>C (p.Met685Ile)
c.1887G>C (p.Met629Ile)
21g.25891767C>TCA409805517APPn.2133G>A
n.563G>A
n.832G>A
c.2166G>A (p.Met722Ile)
c.1941G>A (p.Met647Ile)
c.1773G>A (p.Met591Ile)
c.2109G>A (p.Met703Ile)
c.2112G>A (p.Met704Ile)
c.1836G>A (p.Met612Ile)
c.1998G>A (p.Met666Ile)
c.2094G>A (p.Met698Ile)
n.513G>A
c.2055G>A (p.Met685Ile)
c.1887G>A (p.Met629Ile)
21g.25891768A>CCA409805520APPn.2132T>G
n.562T>G
n.831T>G
c.2165T>G (p.Met722Arg)
c.1940T>G (p.Met647Arg)
c.1772T>G (p.Met591Arg)
c.2108T>G (p.Met703Arg)
c.2111T>G (p.Met704Arg)
c.1835T>G (p.Met612Arg)
c.1997T>G (p.Met666Arg)
c.2093T>G (p.Met698Arg)
n.512T>G
c.2054T>G (p.Met685Arg)
c.1886T>G (p.Met629Arg)
gnomAD v4
21g.25891768A>GCA409805518APPn.2132T>C
n.562T>C
n.831T>C
c.2165T>C (p.Met722Thr)
c.1940T>C (p.Met647Thr)
c.1772T>C (p.Met591Thr)
c.2108T>C (p.Met703Thr)
c.2111T>C (p.Met704Thr)
c.1835T>C (p.Met612Thr)
c.1997T>C (p.Met666Thr)
c.2093T>C (p.Met698Thr)
n.512T>C
c.2054T>C (p.Met685Thr)
c.1886T>C (p.Met629Thr)
21g.25891768A>TCA409805519APPn.2132T>A
n.562T>A
n.831T>A
c.2165T>A (p.Met722Lys)
c.1940T>A (p.Met647Lys)
c.1772T>A (p.Met591Lys)
c.2108T>A (p.Met703Lys)
c.2111T>A (p.Met704Lys)
c.1835T>A (p.Met612Lys)
c.1997T>A (p.Met666Lys)
c.2093T>A (p.Met698Lys)
n.512T>A
c.2054T>A (p.Met685Lys)
c.1886T>A (p.Met629Lys)
21g.25891769T>ACA409805521APPn.2131A>T
n.561A>T
n.830A>T
c.2164A>T (p.Met722Leu)
c.1939A>T (p.Met647Leu)
c.1771A>T (p.Met591Leu)
c.2107A>T (p.Met703Leu)
c.2110A>T (p.Met704Leu)
c.1834A>T (p.Met612Leu)
c.1996A>T (p.Met666Leu)
c.2092A>T (p.Met698Leu)
n.511A>T
c.2053A>T (p.Met685Leu)
c.1885A>T (p.Met629Leu)
21g.25891769T>CCA409805522APPn.2131A>G
n.561A>G
n.830A>G
c.2164A>G (p.Met722Val)
c.1939A>G (p.Met647Val)
c.1771A>G (p.Met591Val)
c.2107A>G (p.Met703Val)
c.2110A>G (p.Met704Val)
c.1834A>G (p.Met612Val)
c.1996A>G (p.Met666Val)
c.2092A>G (p.Met698Val)
n.511A>G
c.2053A>G (p.Met685Val)
c.1885A>G (p.Met629Val)
21g.25891769T>GCA409805523APPn.2131A>C
n.561A>C
n.830A>C
c.2164A>C (p.Met722Leu)
c.1939A>C (p.Met647Leu)
c.1771A>C (p.Met591Leu)
c.2107A>C (p.Met703Leu)
c.2110A>C (p.Met704Leu)
c.1834A>C (p.Met612Leu)
c.1996A>C (p.Met666Leu)
c.2092A>C (p.Met698Leu)
n.511A>C
c.2053A>C (p.Met685Leu)
c.1885A>C (p.Met629Leu)
21g.25891770C>ACA511685983APPn.2130G>T
n.560G>T
n.829G>T
c.2163G>T (p.Val721=)
c.1938G>T (p.Val646=)
c.1770G>T (p.Val590=)
c.2106G>T (p.Val702=)
c.2109G>T (p.Val703=)
c.1833G>T (p.Val611=)
c.1995G>T (p.Val665=)
c.2091G>T (p.Val697=)
n.510G>T
c.2052G>T (p.Val684=)
c.1884G>T (p.Val628=)
21g.25891770C>GCA511685982APPn.2130G>C
n.560G>C
n.829G>C
c.2163G>C (p.Val721=)
c.1938G>C (p.Val646=)
c.1770G>C (p.Val590=)
c.2106G>C (p.Val702=)
c.2109G>C (p.Val703=)
c.1833G>C (p.Val611=)
c.1995G>C (p.Val665=)
c.2091G>C (p.Val697=)
n.510G>C
c.2052G>C (p.Val684=)
c.1884G>C (p.Val628=)
21g.25891770C>TCA511685984APPn.2130G>A
n.560G>A
n.829G>A
c.2163G>A (p.Val721=)
c.1938G>A (p.Val646=)
c.1770G>A (p.Val590=)
c.2106G>A (p.Val702=)
c.2109G>A (p.Val703=)
c.1833G>A (p.Val611=)
c.1995G>A (p.Val665=)
c.2091G>A (p.Val697=)
n.510G>A
c.2052G>A (p.Val684=)
c.1884G>A (p.Val628=)
21g.25891771A>CCA409805524APPn.2129T>G
n.559T>G
n.828T>G
c.2162T>G (p.Val721Gly)
c.1937T>G (p.Val646Gly)
c.1769T>G (p.Val590Gly)
c.2105T>G (p.Val702Gly)
c.2108T>G (p.Val703Gly)
c.1832T>G (p.Val611Gly)
c.1994T>G (p.Val665Gly)
c.2090T>G (p.Val697Gly)
n.509T>G
c.2051T>G (p.Val684Gly)
c.1883T>G (p.Val628Gly)
21g.25891771A>GCA409805525APPn.2129T>C
n.559T>C
n.828T>C
c.2162T>C (p.Val721Ala)
c.1937T>C (p.Val646Ala)
c.1769T>C (p.Val590Ala)
c.2105T>C (p.Val702Ala)
c.2108T>C (p.Val703Ala)
c.1832T>C (p.Val611Ala)
c.1994T>C (p.Val665Ala)
c.2090T>C (p.Val697Ala)
n.509T>C
c.2051T>C (p.Val684Ala)
c.1883T>C (p.Val628Ala)
21g.25891771A>TCA409805526APPn.2129T>A
n.559T>A
n.828T>A
c.2162T>A (p.Val721Glu)
c.1937T>A (p.Val646Glu)
c.1769T>A (p.Val590Glu)
c.2105T>A (p.Val702Glu)
c.2108T>A (p.Val703Glu)
c.1832T>A (p.Val611Glu)
c.1994T>A (p.Val665Glu)
c.2090T>A (p.Val697Glu)
n.509T>A
c.2051T>A (p.Val684Glu)
c.1883T>A (p.Val628Glu)
21g.25891772C>ACA409805527APPn.2128G>T
n.558G>T
n.827G>T
c.2161G>T (p.Val721Leu)
c.1936G>T (p.Val646Leu)
c.1768G>T (p.Val590Leu)
c.2104G>T (p.Val702Leu)
c.2107G>T (p.Val703Leu)
c.1831G>T (p.Val611Leu)
c.1993G>T (p.Val665Leu)
c.2089G>T (p.Val697Leu)
n.508G>T
c.2050G>T (p.Val684Leu)
c.1882G>T (p.Val628Leu)
21g.25891772C=CA2383551606APPn.2128G=
n.558G=
n.827G=
c.2161G= (p.Val721=)
c.1936G= (p.Val646=)
c.1768G= (p.Val590=)
c.2104G= (p.Val702=)
c.2107G= (p.Val703=)
c.1831G= (p.Val611=)
c.1993G= (p.Val665=)
c.2089G= (p.Val697=)
n.508G=
c.2050G= (p.Val684=)
c.1882G= (p.Val628=)
21g.25891772C>GCA409805528APPn.2128G>C
n.558G>C
n.827G>C
c.2161G>C (p.Val721Leu)
c.1936G>C (p.Val646Leu)
c.1768G>C (p.Val590Leu)
c.2104G>C (p.Val702Leu)
c.2107G>C (p.Val703Leu)
c.1831G>C (p.Val611Leu)
c.1993G>C (p.Val665Leu)
c.2089G>C (p.Val697Leu)
n.508G>C
c.2050G>C (p.Val684Leu)
c.1882G>C (p.Val628Leu)
21g.25891772C>TCA409805529APPn.2128G>A
n.558G>A
n.827G>A
c.2161G>A (p.Val721Met)
c.1936G>A (p.Val646Met)
c.1768G>A (p.Val590Met)
c.2104G>A (p.Val702Met)
c.2107G>A (p.Val703Met)
c.1831G>A (p.Val611Met)
c.1993G>A (p.Val665Met)
c.2089G>A (p.Val697Met)
n.508G>A
c.2050G>A (p.Val684Met)
c.1882G>A (p.Val628Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.25891773C>ACA409805530APPn.2127G>T
n.557G>T
n.826G>T
c.2160G>T (p.Leu720Phe)
c.1935G>T (p.Leu645Phe)
c.1767G>T (p.Leu589Phe)
c.2103G>T (p.Leu701Phe)
c.2106G>T (p.Leu702Phe)
c.1830G>T (p.Leu610Phe)
c.1992G>T (p.Leu664Phe)
c.2088G>T (p.Leu696Phe)
n.507G>T
c.2049G>T (p.Leu683Phe)
c.1881G>T (p.Leu627Phe)
21g.25891773C>GCA409805531APPn.2127G>C
n.557G>C
n.826G>C
c.2160G>C (p.Leu720Phe)
c.1935G>C (p.Leu645Phe)
c.1767G>C (p.Leu589Phe)
c.2103G>C (p.Leu701Phe)
c.2106G>C (p.Leu702Phe)
c.1830G>C (p.Leu610Phe)
c.1992G>C (p.Leu664Phe)
c.2088G>C (p.Leu696Phe)
n.507G>C
c.2049G>C (p.Leu683Phe)
c.1881G>C (p.Leu627Phe)
21g.25891773C>TCA511685985APPn.2127G>A
n.557G>A
n.826G>A
c.2160G>A (p.Leu720=)
c.1935G>A (p.Leu645=)
c.1767G>A (p.Leu589=)
c.2103G>A (p.Leu701=)
c.2106G>A (p.Leu702=)
c.1830G>A (p.Leu610=)
c.1992G>A (p.Leu664=)
c.2088G>A (p.Leu696=)
n.507G>A
c.2049G>A (p.Leu683=)
c.1881G>A (p.Leu627=)
21g.25891774A>CCA409805533APPn.2126T>G
n.556T>G
n.825T>G
c.2159T>G (p.Leu720Trp)
c.1934T>G (p.Leu645Trp)
c.1766T>G (p.Leu589Trp)
c.2102T>G (p.Leu701Trp)
c.2105T>G (p.Leu702Trp)
c.1829T>G (p.Leu610Trp)
c.1991T>G (p.Leu664Trp)
c.2087T>G (p.Leu696Trp)
n.506T>G
c.2048T>G (p.Leu683Trp)
c.1880T>G (p.Leu627Trp)
21g.25891774A>GCA409805534APPn.2126T>C
n.556T>C
n.825T>C
c.2159T>C (p.Leu720Ser)
c.1934T>C (p.Leu645Ser)
c.1766T>C (p.Leu589Ser)
c.2102T>C (p.Leu701Ser)
c.2105T>C (p.Leu702Ser)
c.1829T>C (p.Leu610Ser)
c.1991T>C (p.Leu664Ser)
c.2087T>C (p.Leu696Ser)
n.506T>C
c.2048T>C (p.Leu683Ser)
c.1880T>C (p.Leu627Ser)
21g.25891774A>TCA409805532APPn.2126T>A
n.556T>A
n.825T>A
c.2159T>A (p.Leu720Ter)
c.1934T>A (p.Leu645Ter)
c.1766T>A (p.Leu589Ter)
c.2102T>A (p.Leu701Ter)
c.2105T>A (p.Leu702Ter)
c.1829T>A (p.Leu610Ter)
c.1991T>A (p.Leu664Ter)
c.2087T>A (p.Leu696Ter)
n.506T>A
c.2048T>A (p.Leu683Ter)
c.1880T>A (p.Leu627Ter)
gnomAD v4
21g.25891775A>CCA409805535APPn.2125T>G
n.555T>G
n.824T>G
c.2158T>G (p.Leu720Val)
c.1933T>G (p.Leu645Val)
c.1765T>G (p.Leu589Val)
c.2101T>G (p.Leu701Val)
c.2104T>G (p.Leu702Val)
c.1828T>G (p.Leu610Val)
c.1990T>G (p.Leu664Val)
c.2086T>G (p.Leu696Val)
n.505T>G
c.2047T>G (p.Leu683Val)
c.1879T>G (p.Leu627Val)
21g.25891775A>GCA511685986APPn.2125T>C
n.555T>C
n.824T>C
c.2158T>C (p.Leu720=)
c.1933T>C (p.Leu645=)
c.1765T>C (p.Leu589=)
c.2101T>C (p.Leu701=)
c.2104T>C (p.Leu702=)
c.1828T>C (p.Leu610=)
c.1990T>C (p.Leu664=)
c.2086T>C (p.Leu696=)
n.505T>C
c.2047T>C (p.Leu683=)
c.1879T>C (p.Leu627=)
21g.25891775A>TCA409805536APPn.2125T>A
n.555T>A
n.824T>A
c.2158T>A (p.Leu720Met)
c.1933T>A (p.Leu645Met)
c.1765T>A (p.Leu589Met)
c.2101T>A (p.Leu701Met)
c.2104T>A (p.Leu702Met)
c.1828T>A (p.Leu610Met)
c.1990T>A (p.Leu664Met)
c.2086T>A (p.Leu696Met)
n.505T>A
c.2047T>A (p.Leu683Met)
c.1879T>A (p.Leu627Met)
gnomAD v4
21g.25891776G>ACA511685987APPn.2124C>T
n.554C>T
n.823C>T
c.2157C>T (p.Thr719=)
c.1932C>T (p.Thr644=)
c.1764C>T (p.Thr588=)
c.2100C>T (p.Thr700=)
c.2103C>T (p.Thr701=)
c.1827C>T (p.Thr609=)
c.1989C>T (p.Thr663=)
c.2085C>T (p.Thr695=)
n.504C>T
c.2046C>T (p.Thr682=)
c.1878C>T (p.Thr626=)
gnomAD v4

Number of alleles fetched