| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891758C>A | CA409805496 | APP | c.2175G>T (p.Lys725Asn) c.1950G>T (p.Lys650Asn) c.1782G>T (p.Lys594Asn) c.2118G>T (p.Lys706Asn) c.2121G>T (p.Lys707Asn) c.1845G>T (p.Lys615Asn) c.2007G>T (p.Lys669Asn) c.2103G>T (p.Lys701Asn) n.522G>T c.2064G>T (p.Lys688Asn) c.1896G>T (p.Lys632Asn) | |
| 21 | g.25891758C= | CA2383551603 | APP | c.2175G= (p.Lys725=) c.1950G= (p.Lys650=) c.1782G= (p.Lys594=) c.2118G= (p.Lys706=) c.2121G= (p.Lys707=) c.1845G= (p.Lys615=) c.2007G= (p.Lys669=) c.2103G= (p.Lys701=) n.522G= c.2064G= (p.Lys688=) c.1896G= (p.Lys632=) | |
| 21 | g.25891758C>G | CA409805497 | APP | c.2175G>C (p.Lys725Asn) c.1950G>C (p.Lys650Asn) c.1782G>C (p.Lys594Asn) c.2118G>C (p.Lys706Asn) c.2121G>C (p.Lys707Asn) c.1845G>C (p.Lys615Asn) c.2007G>C (p.Lys669Asn) c.2103G>C (p.Lys701Asn) n.522G>C c.2064G>C (p.Lys688Asn) c.1896G>C (p.Lys632Asn) | ClinVar gnomAD v4 |
| 21 | g.25891758C>T | CA511685975 | APP | c.2175G>A (p.Lys725=) c.1950G>A (p.Lys650=) c.1782G>A (p.Lys594=) c.2118G>A (p.Lys706=) c.2121G>A (p.Lys707=) c.1845G>A (p.Lys615=) c.2007G>A (p.Lys669=) c.2103G>A (p.Lys701=) n.522G>A c.2064G>A (p.Lys688=) c.1896G>A (p.Lys632=) | |
| 21 | g.25891759T>A | CA409805498 | APP | c.2174A>T (p.Lys725Met) c.1949A>T (p.Lys650Met) c.1781A>T (p.Lys594Met) c.2117A>T (p.Lys706Met) c.2120A>T (p.Lys707Met) c.1844A>T (p.Lys615Met) c.2006A>T (p.Lys669Met) c.2102A>T (p.Lys701Met) n.521A>T c.2063A>T (p.Lys688Met) c.1895A>T (p.Lys632Met) | |
| 21 | g.25891759T>C | CA409805499 | APP | c.2174A>G (p.Lys725Arg) c.1949A>G (p.Lys650Arg) c.1781A>G (p.Lys594Arg) c.2117A>G (p.Lys706Arg) c.2120A>G (p.Lys707Arg) c.1844A>G (p.Lys615Arg) c.2006A>G (p.Lys669Arg) c.2102A>G (p.Lys701Arg) n.521A>G c.2063A>G (p.Lys688Arg) c.1895A>G (p.Lys632Arg) | gnomAD v4 |
| 21 | g.25891759T>G | CA409805500 | APP | c.2174A>C (p.Lys725Thr) c.1949A>C (p.Lys650Thr) c.1781A>C (p.Lys594Thr) c.2117A>C (p.Lys706Thr) c.2120A>C (p.Lys707Thr) c.1844A>C (p.Lys615Thr) c.2006A>C (p.Lys669Thr) c.2102A>C (p.Lys701Thr) n.521A>C c.2063A>C (p.Lys688Thr) c.1895A>C (p.Lys632Thr) | |
| 21 | g.25891760T>A | CA409805501 | APP | c.2173A>T (p.Lys725Ter) c.1948A>T (p.Lys650Ter) c.1780A>T (p.Lys594Ter) c.2116A>T (p.Lys706Ter) c.2119A>T (p.Lys707Ter) c.1843A>T (p.Lys615Ter) c.2005A>T (p.Lys669Ter) c.2101A>T (p.Lys701Ter) n.520A>T c.2062A>T (p.Lys688Ter) c.1894A>T (p.Lys632Ter) | |
| 21 | g.25891760T>C | CA409805502 | APP | c.2173A>G (p.Lys725Glu) c.1948A>G (p.Lys650Glu) c.1780A>G (p.Lys594Glu) c.2116A>G (p.Lys706Glu) c.2119A>G (p.Lys707Glu) c.1843A>G (p.Lys615Glu) c.2005A>G (p.Lys669Glu) c.2101A>G (p.Lys701Glu) n.520A>G c.2062A>G (p.Lys688Glu) c.1894A>G (p.Lys632Glu) | |
| 21 | g.25891760T>G | CA409805503 | APP | c.2173A>C (p.Lys725Gln) c.1948A>C (p.Lys650Gln) c.1780A>C (p.Lys594Gln) c.2116A>C (p.Lys706Gln) c.2119A>C (p.Lys707Gln) c.1843A>C (p.Lys615Gln) c.2005A>C (p.Lys669Gln) c.2101A>C (p.Lys701Gln) n.520A>C c.2062A>C (p.Lys688Gln) c.1894A>C (p.Lys632Gln) | |
| 21 | g.25891761C>A | CA409805504 | APP | 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 | 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 | 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 | 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=) | |
| 21 | g.25891762T>A | CA409805505 | APP | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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) | gnomAD v2 gnomAD v3 gnomAD v4 |