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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891761C>A | CA409805504 | APP | n.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 |
| 21 | g.25891761C= | CA2383551604 | APP | n.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=) | |
| 21 | g.25891761C>G | CA225514 | APP | n.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 |
| 21 | g.25891761C>T | CA511685976 | APP | n.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 |
| 21 | g.25891762T>A | CA409805505 | APP | n.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) | |
| 21 | g.25891762T>C | CA409805507 | APP | n.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) | |
| 21 | g.25891762T>G | CA409805506 | APP | n.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) | |
| 21 | g.25891763T>A | CA409805508 | APP | n.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) | |
| 21 | g.25891763T>C | CA409805509 | APP | n.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) | |
| 21 | g.25891763T>G | CA409805510 | APP | n.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) | |
| 21 | g.25891764C>A | CA511685977 | APP | n.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=) | |
| 21 | g.25891764C>G | CA511685978 | APP | n.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 |
| 21 | g.25891764C>T | CA511685979 | APP | n.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 |
| 21 | g.25891766_25891768del | CA2654122406 | APP | n.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 |
| 21 | g.25891765A= | CA2383551605 | APP | n.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=) | |
| 21 | g.25891765A>C | CA409805511 | APP | n.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) | |
| 21 | g.25891765A>G | CA225513 | APP | n.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 |
| 21 | g.25891765A>T | CA409805512 | APP | n.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) | |
| 21 | g.25891766G>A | CA511685980 | APP | n.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 |
| 21 | g.25891766G>C | CA409805513 | APP | n.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) | |
| 21 | g.25891766G>T | CA409805514 | APP | n.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) | |
| 21 | g.25891767C>A | CA409805515 | APP | n.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) | |
| 21 | g.25891767C>G | CA409805516 | APP | n.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) | |
| 21 | g.25891767C>T | CA409805517 | APP | n.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) | |
| 21 | g.25891768A>C | CA409805520 | APP | n.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 |
| 21 | g.25891768A>G | CA409805518 | APP | n.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) | |
| 21 | g.25891768A>T | CA409805519 | APP | n.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) | |
| 21 | g.25891769T>A | CA409805521 | APP | n.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) | |
| 21 | g.25891769T>C | CA409805522 | APP | n.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) | |
| 21 | g.25891769T>G | CA409805523 | APP | n.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) | |
| 21 | g.25891770C>A | CA511685983 | APP | n.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=) | |
| 21 | g.25891770C>G | CA511685982 | APP | n.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=) | |
| 21 | g.25891770C>T | CA511685984 | APP | n.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=) | |
| 21 | g.25891771A>C | CA409805524 | APP | n.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) | |
| 21 | g.25891771A>G | CA409805525 | APP | n.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) | |
| 21 | g.25891771A>T | CA409805526 | APP | n.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) | |
| 21 | g.25891772C>A | CA409805527 | APP | n.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) | |
| 21 | g.25891772C= | CA2383551606 | APP | n.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=) | |
| 21 | g.25891772C>G | CA409805528 | APP | n.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) | |
| 21 | g.25891772C>T | CA409805529 | APP | n.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 |
| 21 | g.25891773C>A | CA409805530 | APP | n.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) | |
| 21 | g.25891773C>G | CA409805531 | APP | n.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) | |
| 21 | g.25891773C>T | CA511685985 | APP | n.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=) | |
| 21 | g.25891774A>C | CA409805533 | APP | n.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) | |
| 21 | g.25891774A>G | CA409805534 | APP | n.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) | |
| 21 | g.25891774A>T | CA409805532 | APP | n.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 |
| 21 | g.25891775A>C | CA409805535 | APP | n.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) | |
| 21 | g.25891775A>G | CA511685986 | APP | n.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=) | |
| 21 | g.25891775A>T | CA409805536 | APP | n.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 |
| 21 | g.25891776G>A | CA511685987 | APP | n.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 |