Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.6470510T>ACA338124270PLEKHG5c.1676A>T (p.Asp559Val)
c.1850A>T (p.Asp617Val)
c.1787A>T (p.Asp596Val)
n.2152A>T
c.1883A>T (p.Asp628Val)
c.1973A>T (p.Asp658Val)
c.*1888A>T (n.*1888A>T)
n.338A>T
c.*1504A>T (n.*1504A>T)
n.223A>T
c.1907A>T (p.Asp636Val)
c.1844A>T (p.Asp615Val)
n.878A>T
c.1913A>T (p.Asp638Val)
1g.6470510T>CCA561430PLEKHG5c.1676A>G (p.Asp559Gly)
c.1850A>G (p.Asp617Gly)
c.1787A>G (p.Asp596Gly)
n.2152A>G
c.1883A>G (p.Asp628Gly)
c.1973A>G (p.Asp658Gly)
c.*1888A>G (n.*1888A>G)
n.338A>G
c.*1504A>G (n.*1504A>G)
n.223A>G
c.1907A>G (p.Asp636Gly)
c.1844A>G (p.Asp615Gly)
n.878A>G
c.1913A>G (p.Asp638Gly)
dbSNP ExAC gnomAD v2
1g.6470510T>GCA338124273PLEKHG5c.1676A>C (p.Asp559Ala)
c.1850A>C (p.Asp617Ala)
c.1787A>C (p.Asp596Ala)
n.2152A>C
c.1883A>C (p.Asp628Ala)
c.1973A>C (p.Asp658Ala)
c.*1888A>C (n.*1888A>C)
n.338A>C
c.*1504A>C (n.*1504A>C)
n.223A>C
c.1907A>C (p.Asp636Ala)
c.1844A>C (p.Asp615Ala)
n.878A>C
c.1913A>C (p.Asp638Ala)
1g.6470510T=CA1151524111PLEKHG5c.1676A= (p.Asp559=)
c.1850A= (p.Asp617=)
c.1787A= (p.Asp596=)
n.2152A=
c.1883A= (p.Asp628=)
c.1973A= (p.Asp658=)
c.*1888A= (n.*1888A=)
n.338A=
c.*1504A= (n.*1504A=)
n.223A=
c.1907A= (p.Asp636=)
c.1844A= (p.Asp615=)
n.878A=
c.1913A= (p.Asp638=)
1g.6470511C>ACA338124278PLEKHG5c.1675G>T (p.Asp559Tyr)
c.1849G>T (p.Asp617Tyr)
c.1786G>T (p.Asp596Tyr)
n.2151G>T
c.1882G>T (p.Asp628Tyr)
c.1972G>T (p.Asp658Tyr)
c.*1887G>T (n.*1887G>T)
n.337G>T
c.*1503G>T (n.*1503G>T)
n.222G>T
c.1906G>T (p.Asp636Tyr)
c.1843G>T (p.Asp615Tyr)
n.877G>T
c.1912G>T (p.Asp638Tyr)
1g.6470511C>GCA338124279PLEKHG5c.1675G>C (p.Asp559His)
c.1849G>C (p.Asp617His)
c.1786G>C (p.Asp596His)
n.2151G>C
c.1882G>C (p.Asp628His)
c.1972G>C (p.Asp658His)
c.*1887G>C (n.*1887G>C)
n.337G>C
c.*1503G>C (n.*1503G>C)
n.222G>C
c.1906G>C (p.Asp636His)
c.1843G>C (p.Asp615His)
n.877G>C
c.1912G>C (p.Asp638His)
1g.6470511C>TCA338124281PLEKHG5c.1675G>A (p.Asp559Asn)
c.1849G>A (p.Asp617Asn)
c.1786G>A (p.Asp596Asn)
n.2151G>A
c.1882G>A (p.Asp628Asn)
c.1972G>A (p.Asp658Asn)
c.*1887G>A (n.*1887G>A)
n.337G>A
c.*1503G>A (n.*1503G>A)
n.222G>A
c.1906G>A (p.Asp636Asn)
c.1843G>A (p.Asp615Asn)
n.877G>A
c.1912G>A (p.Asp638Asn)
1g.6470512_6470522dupCA521018770PLEKHG5c.1665_1675dup (p.Asp559AlafsTer8)
c.1839_1849dup (p.Asp617AlafsTer8)
c.1776_1786dup (p.Asp596AlafsTer8)
n.2141_2151dup
c.1872_1882dup (p.Asp628AlafsTer8)
c.1962_1972dup (p.Asp658AlafsTer8)
c.*1877_*1887dup (n.*1877_*1887dup)
n.327_337dup
c.*1493_*1503dup (n.*1493_*1503dup)
n.212_222dup
c.1896_1906dup (p.Asp636AlafsTer8)
c.1833_1843dup (p.Asp615AlafsTer8)
n.867_877dup
c.1902_1912dup (p.Asp638AlafsTer8)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6470512C>ACA416022465PLEKHG5c.1674G>T (p.Val558=)
c.1848G>T (p.Val616=)
c.1785G>T (p.Val595=)
n.2150G>T
c.1881G>T (p.Val627=)
c.1971G>T (p.Val657=)
c.*1886G>T (n.*1886G>T)
n.336G>T
c.*1502G>T (n.*1502G>T)
n.221G>T
c.1905G>T (p.Val635=)
c.1842G>T (p.Val614=)
n.876G>T
c.1911G>T (p.Val637=)
1g.6470512C=CA1151524117PLEKHG5c.1674G= (p.Val558=)
c.1848G= (p.Val616=)
c.1785G= (p.Val595=)
n.2150G=
c.1881G= (p.Val627=)
c.1971G= (p.Val657=)
c.*1886G= (n.*1886G=)
n.336G=
c.*1502G= (n.*1502G=)
n.221G=
c.1905G= (p.Val635=)
c.1842G= (p.Val614=)
n.876G=
c.1911G= (p.Val637=)
1g.6470512C>GCA416022466PLEKHG5c.1674G>C (p.Val558=)
c.1848G>C (p.Val616=)
c.1785G>C (p.Val595=)
n.2150G>C
c.1881G>C (p.Val627=)
c.1971G>C (p.Val657=)
c.*1886G>C (n.*1886G>C)
n.336G>C
c.*1502G>C (n.*1502G>C)
n.221G>C
c.1905G>C (p.Val635=)
c.1842G>C (p.Val614=)
n.876G>C
c.1911G>C (p.Val637=)
1g.6470512C>TCA416022468PLEKHG5c.1674G>A (p.Val558=)
c.1848G>A (p.Val616=)
c.1785G>A (p.Val595=)
n.2150G>A
c.1881G>A (p.Val627=)
c.1971G>A (p.Val657=)
c.*1886G>A (n.*1886G>A)
n.336G>A
c.*1502G>A (n.*1502G>A)
n.221G>A
c.1905G>A (p.Val635=)
c.1842G>A (p.Val614=)
n.876G>A
c.1911G>A (p.Val637=)
dbSNP
1g.6470513A>CCA338124290PLEKHG5c.1673T>G (p.Val558Gly)
c.1847T>G (p.Val616Gly)
c.1784T>G (p.Val595Gly)
n.2149T>G
c.1880T>G (p.Val627Gly)
c.1970T>G (p.Val657Gly)
c.*1885T>G (n.*1885T>G)
n.335T>G
c.*1501T>G (n.*1501T>G)
n.220T>G
c.1904T>G (p.Val635Gly)
c.1841T>G (p.Val614Gly)
n.875T>G
c.1910T>G (p.Val637Gly)
1g.6470513A>GCA338124285PLEKHG5c.1673T>C (p.Val558Ala)
c.1847T>C (p.Val616Ala)
c.1784T>C (p.Val595Ala)
n.2149T>C
c.1880T>C (p.Val627Ala)
c.1970T>C (p.Val657Ala)
c.*1885T>C (n.*1885T>C)
n.335T>C
c.*1501T>C (n.*1501T>C)
n.220T>C
c.1904T>C (p.Val635Ala)
c.1841T>C (p.Val614Ala)
n.875T>C
c.1910T>C (p.Val637Ala)
1g.6470513A>TCA338124287PLEKHG5c.1673T>A (p.Val558Glu)
c.1847T>A (p.Val616Glu)
c.1784T>A (p.Val595Glu)
n.2149T>A
c.1880T>A (p.Val627Glu)
c.1970T>A (p.Val657Glu)
c.*1885T>A (n.*1885T>A)
n.335T>A
c.*1501T>A (n.*1501T>A)
n.220T>A
c.1904T>A (p.Val635Glu)
c.1841T>A (p.Val614Glu)
n.875T>A
c.1910T>A (p.Val637Glu)
1g.6470514C>ACA338124297PLEKHG5c.1672G>T (p.Val558Leu)
c.1846G>T (p.Val616Leu)
c.1783G>T (p.Val595Leu)
n.2148G>T
c.1879G>T (p.Val627Leu)
c.1969G>T (p.Val657Leu)
c.*1884G>T (n.*1884G>T)
n.334G>T
c.*1500G>T (n.*1500G>T)
n.219G>T
c.1903G>T (p.Val635Leu)
c.1840G>T (p.Val614Leu)
n.874G>T
c.1909G>T (p.Val637Leu)
1g.6470514C>GCA338124301PLEKHG5c.1672G>C (p.Val558Leu)
c.1846G>C (p.Val616Leu)
c.1783G>C (p.Val595Leu)
n.2148G>C
c.1879G>C (p.Val627Leu)
c.1969G>C (p.Val657Leu)
c.*1884G>C (n.*1884G>C)
n.334G>C
c.*1500G>C (n.*1500G>C)
n.219G>C
c.1903G>C (p.Val635Leu)
c.1840G>C (p.Val614Leu)
n.874G>C
c.1909G>C (p.Val637Leu)
1g.6470514C>TCA338124307PLEKHG5c.1672G>A (p.Val558Met)
c.1846G>A (p.Val616Met)
c.1783G>A (p.Val595Met)
n.2148G>A
c.1879G>A (p.Val627Met)
c.1969G>A (p.Val657Met)
c.*1884G>A (n.*1884G>A)
n.334G>A
c.*1500G>A (n.*1500G>A)
n.219G>A
c.1903G>A (p.Val635Met)
c.1840G>A (p.Val614Met)
n.874G>A
c.1909G>A (p.Val637Met)
gnomAD v4
1g.6470515T>ACA338124313PLEKHG5c.1671A>T (p.Glu557Asp)
c.1845A>T (p.Glu615Asp)
c.1782A>T (p.Glu594Asp)
n.2147A>T
c.1878A>T (p.Glu626Asp)
c.1968A>T (p.Glu656Asp)
c.*1883A>T (n.*1883A>T)
n.333A>T
c.*1499A>T (n.*1499A>T)
n.218A>T
c.1902A>T (p.Glu634Asp)
c.1839A>T (p.Glu613Asp)
n.873A>T
c.1908A>T (p.Glu636Asp)
1g.6470515T>CCA416022469PLEKHG5c.1671A>G (p.Glu557=)
c.1845A>G (p.Glu615=)
c.1782A>G (p.Glu594=)
n.2147A>G
c.1878A>G (p.Glu626=)
c.1968A>G (p.Glu656=)
c.*1883A>G (n.*1883A>G)
n.333A>G
c.*1499A>G (n.*1499A>G)
n.218A>G
c.1902A>G (p.Glu634=)
c.1839A>G (p.Glu613=)
n.873A>G
c.1908A>G (p.Glu636=)
1g.6470515T>GCA338124319PLEKHG5c.1671A>C (p.Glu557Asp)
c.1845A>C (p.Glu615Asp)
c.1782A>C (p.Glu594Asp)
n.2147A>C
c.1878A>C (p.Glu626Asp)
c.1968A>C (p.Glu656Asp)
c.*1883A>C (n.*1883A>C)
n.333A>C
c.*1499A>C (n.*1499A>C)
n.218A>C
c.1902A>C (p.Glu634Asp)
c.1839A>C (p.Glu613Asp)
n.873A>C
c.1908A>C (p.Glu636Asp)
1g.6470516T>ACA338124325PLEKHG5c.1670A>T (p.Glu557Val)
c.1844A>T (p.Glu615Val)
c.1781A>T (p.Glu594Val)
n.2146A>T
c.1877A>T (p.Glu626Val)
c.1967A>T (p.Glu656Val)
c.*1882A>T (n.*1882A>T)
n.332A>T
c.*1498A>T (n.*1498A>T)
n.217A>T
c.1901A>T (p.Glu634Val)
c.1838A>T (p.Glu613Val)
n.872A>T
c.1907A>T (p.Glu636Val)
1g.6470516T>CCA338124349PLEKHG5c.1670A>G (p.Glu557Gly)
c.1844A>G (p.Glu615Gly)
c.1781A>G (p.Glu594Gly)
n.2146A>G
c.1877A>G (p.Glu626Gly)
c.1967A>G (p.Glu656Gly)
c.*1882A>G (n.*1882A>G)
n.332A>G
c.*1498A>G (n.*1498A>G)
n.217A>G
c.1901A>G (p.Glu634Gly)
c.1838A>G (p.Glu613Gly)
n.872A>G
c.1907A>G (p.Glu636Gly)
1g.6470516T>GCA338124346PLEKHG5c.1670A>C (p.Glu557Ala)
c.1844A>C (p.Glu615Ala)
c.1781A>C (p.Glu594Ala)
n.2146A>C
c.1877A>C (p.Glu626Ala)
c.1967A>C (p.Glu656Ala)
c.*1882A>C (n.*1882A>C)
n.332A>C
c.*1498A>C (n.*1498A>C)
n.217A>C
c.1901A>C (p.Glu634Ala)
c.1838A>C (p.Glu613Ala)
n.872A>C
c.1907A>C (p.Glu636Ala)
dbSNP gnomAD v3 gnomAD v4
1g.6470516T=CA1151524122PLEKHG5c.1670A= (p.Glu557=)
c.1844A= (p.Glu615=)
c.1781A= (p.Glu594=)
n.2146A=
c.1877A= (p.Glu626=)
c.1967A= (p.Glu656=)
c.*1882A= (n.*1882A=)
n.332A=
c.*1498A= (n.*1498A=)
n.217A=
c.1901A= (p.Glu634=)
c.1838A= (p.Glu613=)
n.872A=
c.1907A= (p.Glu636=)
1g.6470517C>ACA338124364PLEKHG5c.1669G>T (p.Glu557Ter)
c.1843G>T (p.Glu615Ter)
c.1780G>T (p.Glu594Ter)
n.2145G>T
c.1876G>T (p.Glu626Ter)
c.1966G>T (p.Glu656Ter)
c.*1881G>T (n.*1881G>T)
n.331G>T
c.*1497G>T (n.*1497G>T)
n.216G>T
c.1900G>T (p.Glu634Ter)
c.1837G>T (p.Glu613Ter)
n.871G>T
c.1906G>T (p.Glu636Ter)
1g.6470517C=CA1151524127PLEKHG5c.1669G= (p.Glu557=)
c.1843G= (p.Glu615=)
c.1780G= (p.Glu594=)
n.2145G=
c.1876G= (p.Glu626=)
c.1966G= (p.Glu656=)
c.*1881G= (n.*1881G=)
n.331G=
c.*1497G= (n.*1497G=)
n.216G=
c.1900G= (p.Glu634=)
c.1837G= (p.Glu613=)
n.871G=
c.1906G= (p.Glu636=)
1g.6470517C>GCA561431PLEKHG5c.1669G>C (p.Glu557Gln)
c.1843G>C (p.Glu615Gln)
c.1780G>C (p.Glu594Gln)
n.2145G>C
c.1876G>C (p.Glu626Gln)
c.1966G>C (p.Glu656Gln)
c.*1881G>C (n.*1881G>C)
n.331G>C
c.*1497G>C (n.*1497G>C)
n.216G>C
c.1900G>C (p.Glu634Gln)
c.1837G>C (p.Glu613Gln)
n.871G>C
c.1906G>C (p.Glu636Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470517C>TCA17236571PLEKHG5c.1669G>A (p.Glu557Lys)
c.1843G>A (p.Glu615Lys)
c.1780G>A (p.Glu594Lys)
n.2145G>A
c.1876G>A (p.Glu626Lys)
c.1966G>A (p.Glu656Lys)
c.*1881G>A (n.*1881G>A)
n.331G>A
c.*1497G>A (n.*1497G>A)
n.216G>A
c.1900G>A (p.Glu634Lys)
c.1837G>A (p.Glu613Lys)
n.871G>A
c.1906G>A (p.Glu636Lys)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
1g.6470518G>ACA416022474PLEKHG5c.1668C>T (p.Asp556=)
c.1842C>T (p.Asp614=)
c.1779C>T (p.Asp593=)
n.2144C>T
c.1875C>T (p.Asp625=)
c.1965C>T (p.Asp655=)
c.*1880C>T (n.*1880C>T)
n.330C>T
c.*1496C>T (n.*1496C>T)
n.215C>T
c.1899C>T (p.Asp633=)
c.1836C>T (p.Asp612=)
n.870C>T
c.1905C>T (p.Asp635=)
dbSNP gnomAD v3 gnomAD v4
1g.6470518G>CCA338124373PLEKHG5c.1668C>G (p.Asp556Glu)
c.1842C>G (p.Asp614Glu)
c.1779C>G (p.Asp593Glu)
n.2144C>G
c.1875C>G (p.Asp625Glu)
c.1965C>G (p.Asp655Glu)
c.*1880C>G (n.*1880C>G)
n.330C>G
c.*1496C>G (n.*1496C>G)
n.215C>G
c.1899C>G (p.Asp633Glu)
c.1836C>G (p.Asp612Glu)
n.870C>G
c.1905C>G (p.Asp635Glu)
ClinVar dbSNP
1g.6470518G=CA1151524137PLEKHG5c.1668C= (p.Asp556=)
c.1842C= (p.Asp614=)
c.1779C= (p.Asp593=)
n.2144C=
c.1875C= (p.Asp625=)
c.1965C= (p.Asp655=)
c.*1880C= (n.*1880C=)
n.330C=
c.*1496C= (n.*1496C=)
n.215C=
c.1899C= (p.Asp633=)
c.1836C= (p.Asp612=)
n.870C=
c.1905C= (p.Asp635=)
1g.6470518G>TCA338124375PLEKHG5c.1668C>A (p.Asp556Glu)
c.1842C>A (p.Asp614Glu)
c.1779C>A (p.Asp593Glu)
n.2144C>A
c.1875C>A (p.Asp625Glu)
c.1965C>A (p.Asp655Glu)
c.*1880C>A (n.*1880C>A)
n.330C>A
c.*1496C>A (n.*1496C>A)
n.215C>A
c.1899C>A (p.Asp633Glu)
c.1836C>A (p.Asp612Glu)
n.870C>A
c.1905C>A (p.Asp635Glu)
1g.6470519T>ACA338124380PLEKHG5c.1667A>T (p.Asp556Val)
c.1841A>T (p.Asp614Val)
c.1778A>T (p.Asp593Val)
n.2143A>T
c.1874A>T (p.Asp625Val)
c.1964A>T (p.Asp655Val)
c.*1879A>T (n.*1879A>T)
n.329A>T
c.*1495A>T (n.*1495A>T)
n.214A>T
c.1898A>T (p.Asp633Val)
c.1835A>T (p.Asp612Val)
n.869A>T
c.1904A>T (p.Asp635Val)
1g.6470519T>CCA338124391PLEKHG5c.1667A>G (p.Asp556Gly)
c.1841A>G (p.Asp614Gly)
c.1778A>G (p.Asp593Gly)
n.2143A>G
c.1874A>G (p.Asp625Gly)
c.1964A>G (p.Asp655Gly)
c.*1879A>G (n.*1879A>G)
n.329A>G
c.*1495A>G (n.*1495A>G)
n.214A>G
c.1898A>G (p.Asp633Gly)
c.1835A>G (p.Asp612Gly)
n.869A>G
c.1904A>G (p.Asp635Gly)
1g.6470519T>GCA338124396PLEKHG5c.1667A>C (p.Asp556Ala)
c.1841A>C (p.Asp614Ala)
c.1778A>C (p.Asp593Ala)
n.2143A>C
c.1874A>C (p.Asp625Ala)
c.1964A>C (p.Asp655Ala)
c.*1879A>C (n.*1879A>C)
n.329A>C
c.*1495A>C (n.*1495A>C)
n.214A>C
c.1898A>C (p.Asp633Ala)
c.1835A>C (p.Asp612Ala)
n.869A>C
c.1904A>C (p.Asp635Ala)
gnomAD v4
1g.6470520C>ACA338124407PLEKHG5c.1666G>T (p.Asp556Tyr)
c.1840G>T (p.Asp614Tyr)
c.1777G>T (p.Asp593Tyr)
n.2142G>T
c.1873G>T (p.Asp625Tyr)
c.1963G>T (p.Asp655Tyr)
c.*1878G>T (n.*1878G>T)
n.328G>T
c.*1494G>T (n.*1494G>T)
n.213G>T
c.1897G>T (p.Asp633Tyr)
c.1834G>T (p.Asp612Tyr)
n.868G>T
c.1903G>T (p.Asp635Tyr)
1g.6470520C=CA1151524148PLEKHG5c.1666G= (p.Asp556=)
c.1840G= (p.Asp614=)
c.1777G= (p.Asp593=)
n.2142G=
c.1873G= (p.Asp625=)
c.1963G= (p.Asp655=)
c.*1878G= (n.*1878G=)
n.328G=
c.*1494G= (n.*1494G=)
n.213G=
c.1897G= (p.Asp633=)
c.1834G= (p.Asp612=)
n.868G=
c.1903G= (p.Asp635=)
1g.6470520C>GCA338124410PLEKHG5c.1666G>C (p.Asp556His)
c.1840G>C (p.Asp614His)
c.1777G>C (p.Asp593His)
n.2142G>C
c.1873G>C (p.Asp625His)
c.1963G>C (p.Asp655His)
c.*1878G>C (n.*1878G>C)
n.328G>C
c.*1494G>C (n.*1494G>C)
n.213G>C
c.1897G>C (p.Asp633His)
c.1834G>C (p.Asp612His)
n.868G>C
c.1903G>C (p.Asp635His)
1g.6470520C>TCA561432PLEKHG5c.1666G>A (p.Asp556Asn)
c.1840G>A (p.Asp614Asn)
c.1777G>A (p.Asp593Asn)
n.2142G>A
c.1873G>A (p.Asp625Asn)
c.1963G>A (p.Asp655Asn)
c.*1878G>A (n.*1878G>A)
n.328G>A
c.*1494G>A (n.*1494G>A)
n.213G>A
c.1897G>A (p.Asp633Asn)
c.1834G>A (p.Asp612Asn)
n.868G>A
c.1903G>A (p.Asp635Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.6470521G>ACA416022484PLEKHG5c.1665C>T (p.Ser555=)
c.1839C>T (p.Ser613=)
c.1776C>T (p.Ser592=)
n.2141C>T
c.1872C>T (p.Ser624=)
c.1962C>T (p.Ser654=)
c.*1877C>T (n.*1877C>T)
n.327C>T
c.*1493C>T (n.*1493C>T)
n.212C>T
c.1896C>T (p.Ser632=)
c.1833C>T (p.Ser611=)
n.867C>T
c.1902C>T (p.Ser634=)
gnomAD v4 COSMIC COSMIC COSMIC
1g.6470521G>CCA338124433PLEKHG5c.1665C>G (p.Ser555Arg)
c.1839C>G (p.Ser613Arg)
c.1776C>G (p.Ser592Arg)
n.2141C>G
c.1872C>G (p.Ser624Arg)
c.1962C>G (p.Ser654Arg)
c.*1877C>G (n.*1877C>G)
n.327C>G
c.*1493C>G (n.*1493C>G)
n.212C>G
c.1896C>G (p.Ser632Arg)
c.1833C>G (p.Ser611Arg)
n.867C>G
c.1902C>G (p.Ser634Arg)
dbSNP gnomAD v3 gnomAD v4
1g.6470521G=CA1151524168PLEKHG5c.1665C= (p.Ser555=)
c.1839C= (p.Ser613=)
c.1776C= (p.Ser592=)
n.2141C=
c.1872C= (p.Ser624=)
c.1962C= (p.Ser654=)
c.*1877C= (n.*1877C=)
n.327C=
c.*1493C= (n.*1493C=)
n.212C=
c.1896C= (p.Ser632=)
c.1833C= (p.Ser611=)
n.867C=
c.1902C= (p.Ser634=)
1g.6470521G>TCA338124434PLEKHG5c.1665C>A (p.Ser555Arg)
c.1839C>A (p.Ser613Arg)
c.1776C>A (p.Ser592Arg)
n.2141C>A
c.1872C>A (p.Ser624Arg)
c.1962C>A (p.Ser654Arg)
c.*1877C>A (n.*1877C>A)
n.327C>A
c.*1493C>A (n.*1493C>A)
n.212C>A
c.1896C>A (p.Ser632Arg)
c.1833C>A (p.Ser611Arg)
n.867C>A
c.1902C>A (p.Ser634Arg)
gnomAD v4
1g.6470522C>ACA338124437PLEKHG5c.1664G>T (p.Ser555Ile)
c.1838G>T (p.Ser613Ile)
c.1775G>T (p.Ser592Ile)
n.2140G>T
c.1871G>T (p.Ser624Ile)
c.1961G>T (p.Ser654Ile)
c.*1876G>T (n.*1876G>T)
n.326G>T
c.*1492G>T (n.*1492G>T)
n.211G>T
c.1895G>T (p.Ser632Ile)
c.1832G>T (p.Ser611Ile)
n.866G>T
c.1901G>T (p.Ser634Ile)
1g.6470522C>GCA338124442PLEKHG5c.1664G>C (p.Ser555Thr)
c.1838G>C (p.Ser613Thr)
c.1775G>C (p.Ser592Thr)
n.2140G>C
c.1871G>C (p.Ser624Thr)
c.1961G>C (p.Ser654Thr)
c.*1876G>C (n.*1876G>C)
n.326G>C
c.*1492G>C (n.*1492G>C)
n.211G>C
c.1895G>C (p.Ser632Thr)
c.1832G>C (p.Ser611Thr)
n.866G>C
c.1901G>C (p.Ser634Thr)
1g.6470522C>TCA338124440PLEKHG5c.1664G>A (p.Ser555Asn)
c.1838G>A (p.Ser613Asn)
c.1775G>A (p.Ser592Asn)
n.2140G>A
c.1871G>A (p.Ser624Asn)
c.1961G>A (p.Ser654Asn)
c.*1876G>A (n.*1876G>A)
n.326G>A
c.*1492G>A (n.*1492G>A)
n.211G>A
c.1895G>A (p.Ser632Asn)
c.1832G>A (p.Ser611Asn)
n.866G>A
c.1901G>A (p.Ser634Asn)
1g.6470523T>ACA561433PLEKHG5c.1663A>T (p.Ser555Cys)
c.1837A>T (p.Ser613Cys)
c.1774A>T (p.Ser592Cys)
n.2139A>T
c.1870A>T (p.Ser624Cys)
c.1960A>T (p.Ser654Cys)
c.*1875A>T (n.*1875A>T)
n.325A>T
c.*1491A>T (n.*1491A>T)
n.210A>T
c.1894A>T (p.Ser632Cys)
c.1831A>T (p.Ser611Cys)
n.865A>T
c.1900A>T (p.Ser634Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.6470523T>CCA338124451PLEKHG5c.1663A>G (p.Ser555Gly)
c.1837A>G (p.Ser613Gly)
c.1774A>G (p.Ser592Gly)
n.2139A>G
c.1870A>G (p.Ser624Gly)
c.1960A>G (p.Ser654Gly)
c.*1875A>G (n.*1875A>G)
n.325A>G
c.*1491A>G (n.*1491A>G)
n.210A>G
c.1894A>G (p.Ser632Gly)
c.1831A>G (p.Ser611Gly)
n.865A>G
c.1900A>G (p.Ser634Gly)
1g.6470523T>GCA338124450PLEKHG5c.1663A>C (p.Ser555Arg)
c.1837A>C (p.Ser613Arg)
c.1774A>C (p.Ser592Arg)
n.2139A>C
c.1870A>C (p.Ser624Arg)
c.1960A>C (p.Ser654Arg)
c.*1875A>C (n.*1875A>C)
n.325A>C
c.*1491A>C (n.*1491A>C)
n.210A>C
c.1894A>C (p.Ser632Arg)
c.1831A>C (p.Ser611Arg)
n.865A>C
c.1900A>C (p.Ser634Arg)
dbSNP gnomAD v2 gnomAD v4
1g.6470523T=CA1148482320PLEKHG5c.1663A= (p.Ser555=)
c.1837A= (p.Ser613=)
c.1774A= (p.Ser592=)
n.2139A=
c.1870A= (p.Ser624=)
c.1960A= (p.Ser654=)
c.*1875A= (n.*1875A=)
n.325A=
c.*1491A= (n.*1491A=)
n.210A=
c.1894A= (p.Ser632=)
c.1831A= (p.Ser611=)
n.865A=
c.1900A= (p.Ser634=)
1g.6470524G>ACA416022500PLEKHG5c.1662C>T (p.Ser554=)
c.1836C>T (p.Ser612=)
c.1773C>T (p.Ser591=)
n.2138C>T
c.1869C>T (p.Ser623=)
c.1959C>T (p.Ser653=)
c.*1874C>T (n.*1874C>T)
n.324C>T
c.*1490C>T (n.*1490C>T)
n.209C>T
c.1893C>T (p.Ser631=)
c.1830C>T (p.Ser610=)
n.864C>T
c.1899C>T (p.Ser633=)
gnomAD v4
1g.6470524G>CCA338124453PLEKHG5c.1662C>G (p.Ser554Arg)
c.1836C>G (p.Ser612Arg)
c.1773C>G (p.Ser591Arg)
n.2138C>G
c.1869C>G (p.Ser623Arg)
c.1959C>G (p.Ser653Arg)
c.*1874C>G (n.*1874C>G)
n.324C>G
c.*1490C>G (n.*1490C>G)
n.209C>G
c.1893C>G (p.Ser631Arg)
c.1830C>G (p.Ser610Arg)
n.864C>G
c.1899C>G (p.Ser633Arg)
1g.6470524G>TCA338124454PLEKHG5c.1662C>A (p.Ser554Arg)
c.1836C>A (p.Ser612Arg)
c.1773C>A (p.Ser591Arg)
n.2138C>A
c.1869C>A (p.Ser623Arg)
c.1959C>A (p.Ser653Arg)
c.*1874C>A (n.*1874C>A)
n.324C>A
c.*1490C>A (n.*1490C>A)
n.209C>A
c.1893C>A (p.Ser631Arg)
c.1830C>A (p.Ser610Arg)
n.864C>A
c.1899C>A (p.Ser633Arg)
1g.6470525C>ACA338124458PLEKHG5c.1661G>T (p.Ser554Ile)
c.1835G>T (p.Ser612Ile)
c.1772G>T (p.Ser591Ile)
n.2137G>T
c.1868G>T (p.Ser623Ile)
c.1958G>T (p.Ser653Ile)
c.*1873G>T (n.*1873G>T)
n.323G>T
c.*1489G>T (n.*1489G>T)
n.208G>T
c.1892G>T (p.Ser631Ile)
c.1829G>T (p.Ser610Ile)
n.863G>T
c.1898G>T (p.Ser633Ile)
1g.6470525C>GCA338124483PLEKHG5c.1661G>C (p.Ser554Thr)
c.1835G>C (p.Ser612Thr)
c.1772G>C (p.Ser591Thr)
n.2137G>C
c.1868G>C (p.Ser623Thr)
c.1958G>C (p.Ser653Thr)
c.*1873G>C (n.*1873G>C)
n.323G>C
c.*1489G>C (n.*1489G>C)
n.208G>C
c.1892G>C (p.Ser631Thr)
c.1829G>C (p.Ser610Thr)
n.863G>C
c.1898G>C (p.Ser633Thr)
1g.6470525C>TCA338124488PLEKHG5c.1661G>A (p.Ser554Asn)
c.1835G>A (p.Ser612Asn)
c.1772G>A (p.Ser591Asn)
n.2137G>A
c.1868G>A (p.Ser623Asn)
c.1958G>A (p.Ser653Asn)
c.*1873G>A (n.*1873G>A)
n.323G>A
c.*1489G>A (n.*1489G>A)
n.208G>A
c.1892G>A (p.Ser631Asn)
c.1829G>A (p.Ser610Asn)
n.863G>A
c.1898G>A (p.Ser633Asn)
1g.6470526T>ACA338124495PLEKHG5c.1660A>T (p.Ser554Cys)
c.1834A>T (p.Ser612Cys)
c.1771A>T (p.Ser591Cys)
n.2136A>T
c.1867A>T (p.Ser623Cys)
c.1957A>T (p.Ser653Cys)
c.*1872A>T (n.*1872A>T)
n.322A>T
c.*1488A>T (n.*1488A>T)
n.207A>T
c.1891A>T (p.Ser631Cys)
c.1828A>T (p.Ser610Cys)
n.862A>T
c.1897A>T (p.Ser633Cys)
dbSNP gnomAD v3 gnomAD v4
1g.6470526T>CCA338124513PLEKHG5c.1660A>G (p.Ser554Gly)
c.1834A>G (p.Ser612Gly)
c.1771A>G (p.Ser591Gly)
n.2136A>G
c.1867A>G (p.Ser623Gly)
c.1957A>G (p.Ser653Gly)
c.*1872A>G (n.*1872A>G)
n.322A>G
c.*1488A>G (n.*1488A>G)
n.207A>G
c.1891A>G (p.Ser631Gly)
c.1828A>G (p.Ser610Gly)
n.862A>G
c.1897A>G (p.Ser633Gly)
1g.6470526T>GCA338124519PLEKHG5c.1660A>C (p.Ser554Arg)
c.1834A>C (p.Ser612Arg)
c.1771A>C (p.Ser591Arg)
n.2136A>C
c.1867A>C (p.Ser623Arg)
c.1957A>C (p.Ser653Arg)
c.*1872A>C (n.*1872A>C)
n.322A>C
c.*1488A>C (n.*1488A>C)
n.207A>C
c.1891A>C (p.Ser631Arg)
c.1828A>C (p.Ser610Arg)
n.862A>C
c.1897A>C (p.Ser633Arg)
1g.6470526T=CA1151524171PLEKHG5c.1660A= (p.Ser554=)
c.1834A= (p.Ser612=)
c.1771A= (p.Ser591=)
n.2136A=
c.1867A= (p.Ser623=)
c.1957A= (p.Ser653=)
c.*1872A= (n.*1872A=)
n.322A=
c.*1488A= (n.*1488A=)
n.207A=
c.1891A= (p.Ser631=)
c.1828A= (p.Ser610=)
n.862A=
c.1897A= (p.Ser633=)
1g.6470527G>ACA416022506PLEKHG5c.1659C>T (p.Ser553=)
c.1833C>T (p.Ser611=)
c.1770C>T (p.Ser590=)
n.2135C>T
c.1866C>T (p.Ser622=)
c.1956C>T (p.Ser652=)
c.*1871C>T (n.*1871C>T)
n.321C>T
c.*1487C>T (n.*1487C>T)
n.206C>T
c.1890C>T (p.Ser630=)
c.1827C>T (p.Ser609=)
n.861C>T
c.1896C>T (p.Ser632=)
ClinVar gnomAD v4
1g.6470527G>CCA338124522PLEKHG5c.1659C>G (p.Ser553Arg)
c.1833C>G (p.Ser611Arg)
c.1770C>G (p.Ser590Arg)
n.2135C>G
c.1866C>G (p.Ser622Arg)
c.1956C>G (p.Ser652Arg)
c.*1871C>G (n.*1871C>G)
n.321C>G
c.*1487C>G (n.*1487C>G)
n.206C>G
c.1890C>G (p.Ser630Arg)
c.1827C>G (p.Ser609Arg)
n.861C>G
c.1896C>G (p.Ser632Arg)
1g.6470527G>TCA338124524PLEKHG5c.1659C>A (p.Ser553Arg)
c.1833C>A (p.Ser611Arg)
c.1770C>A (p.Ser590Arg)
n.2135C>A
c.1866C>A (p.Ser622Arg)
c.1956C>A (p.Ser652Arg)
c.*1871C>A (n.*1871C>A)
n.321C>A
c.*1487C>A (n.*1487C>A)
n.206C>A
c.1890C>A (p.Ser630Arg)
c.1827C>A (p.Ser609Arg)
n.861C>A
c.1896C>A (p.Ser632Arg)
1g.6470528C>ACA338124545PLEKHG5c.1658G>T (p.Ser553Ile)
c.1832G>T (p.Ser611Ile)
c.1769G>T (p.Ser590Ile)
n.2134G>T
c.1865G>T (p.Ser622Ile)
c.1955G>T (p.Ser652Ile)
c.*1870G>T (n.*1870G>T)
n.320G>T
c.*1486G>T (n.*1486G>T)
n.205G>T
c.1889G>T (p.Ser630Ile)
c.1826G>T (p.Ser609Ile)
n.860G>T
c.1895G>T (p.Ser632Ile)
1g.6470528C=CA1151524175PLEKHG5c.1658G= (p.Ser553=)
c.1832G= (p.Ser611=)
c.1769G= (p.Ser590=)
n.2134G=
c.1865G= (p.Ser622=)
c.1955G= (p.Ser652=)
c.*1870G= (n.*1870G=)
n.320G=
c.*1486G= (n.*1486G=)
n.205G=
c.1889G= (p.Ser630=)
c.1826G= (p.Ser609=)
n.860G=
c.1895G= (p.Ser632=)
1g.6470528C>GCA338124544PLEKHG5c.1658G>C (p.Ser553Thr)
c.1832G>C (p.Ser611Thr)
c.1769G>C (p.Ser590Thr)
n.2134G>C
c.1865G>C (p.Ser622Thr)
c.1955G>C (p.Ser652Thr)
c.*1870G>C (n.*1870G>C)
n.320G>C
c.*1486G>C (n.*1486G>C)
n.205G>C
c.1889G>C (p.Ser630Thr)
c.1826G>C (p.Ser609Thr)
n.860G>C
c.1895G>C (p.Ser632Thr)
1g.6470528C>TCA338124542PLEKHG5c.1658G>A (p.Ser553Asn)
c.1832G>A (p.Ser611Asn)
c.1769G>A (p.Ser590Asn)
n.2134G>A
c.1865G>A (p.Ser622Asn)
c.1955G>A (p.Ser652Asn)
c.*1870G>A (n.*1870G>A)
n.320G>A
c.*1486G>A (n.*1486G>A)
n.205G>A
c.1889G>A (p.Ser630Asn)
c.1826G>A (p.Ser609Asn)
n.860G>A
c.1895G>A (p.Ser632Asn)
dbSNP gnomAD v2 gnomAD v4
1g.6470529T>ACA338124549PLEKHG5c.1657A>T (p.Ser553Cys)
c.1831A>T (p.Ser611Cys)
c.1768A>T (p.Ser590Cys)
n.2133A>T
c.1864A>T (p.Ser622Cys)
c.1954A>T (p.Ser652Cys)
c.*1869A>T (n.*1869A>T)
n.319A>T
c.*1485A>T (n.*1485A>T)
n.204A>T
c.1888A>T (p.Ser630Cys)
c.1825A>T (p.Ser609Cys)
n.859A>T
c.1894A>T (p.Ser632Cys)
1g.6470529T>CCA338124552PLEKHG5c.1657A>G (p.Ser553Gly)
c.1831A>G (p.Ser611Gly)
c.1768A>G (p.Ser590Gly)
n.2133A>G
c.1864A>G (p.Ser622Gly)
c.1954A>G (p.Ser652Gly)
c.*1869A>G (n.*1869A>G)
n.319A>G
c.*1485A>G (n.*1485A>G)
n.204A>G
c.1888A>G (p.Ser630Gly)
c.1825A>G (p.Ser609Gly)
n.859A>G
c.1894A>G (p.Ser632Gly)
gnomAD v4
1g.6470529T>GCA338124559PLEKHG5c.1657A>C (p.Ser553Arg)
c.1831A>C (p.Ser611Arg)
c.1768A>C (p.Ser590Arg)
n.2133A>C
c.1864A>C (p.Ser622Arg)
c.1954A>C (p.Ser652Arg)
c.*1869A>C (n.*1869A>C)
n.319A>C
c.*1485A>C (n.*1485A>C)
n.204A>C
c.1888A>C (p.Ser630Arg)
c.1825A>C (p.Ser609Arg)
n.859A>C
c.1894A>C (p.Ser632Arg)
1g.6470530T>ACA338124575PLEKHG5c.1656A>T (p.Glu552Asp)
c.1830A>T (p.Glu610Asp)
c.1767A>T (p.Glu589Asp)
n.2132A>T
c.1863A>T (p.Glu621Asp)
c.1953A>T (p.Glu651Asp)
c.*1868A>T (n.*1868A>T)
n.318A>T
c.*1484A>T (n.*1484A>T)
n.203A>T
c.1887A>T (p.Glu629Asp)
c.1824A>T (p.Glu608Asp)
n.858A>T
c.1893A>T (p.Glu631Asp)
1g.6470530T>CCA416022517PLEKHG5c.1656A>G (p.Glu552=)
c.1830A>G (p.Glu610=)
c.1767A>G (p.Glu589=)
n.2132A>G
c.1863A>G (p.Glu621=)
c.1953A>G (p.Glu651=)
c.*1868A>G (n.*1868A>G)
n.318A>G
c.*1484A>G (n.*1484A>G)
n.203A>G
c.1887A>G (p.Glu629=)
c.1824A>G (p.Glu608=)
n.858A>G
c.1893A>G (p.Glu631=)
1g.6470530T>GCA338124576PLEKHG5c.1656A>C (p.Glu552Asp)
c.1830A>C (p.Glu610Asp)
c.1767A>C (p.Glu589Asp)
n.2132A>C
c.1863A>C (p.Glu621Asp)
c.1953A>C (p.Glu651Asp)
c.*1868A>C (n.*1868A>C)
n.318A>C
c.*1484A>C (n.*1484A>C)
n.203A>C
c.1887A>C (p.Glu629Asp)
c.1824A>C (p.Glu608Asp)
n.858A>C
c.1893A>C (p.Glu631Asp)
1g.6470531T>ACA338124577PLEKHG5c.1655A>T (p.Glu552Val)
c.1829A>T (p.Glu610Val)
c.1766A>T (p.Glu589Val)
n.2131A>T
c.1862A>T (p.Glu621Val)
c.1952A>T (p.Glu651Val)
c.*1867A>T (n.*1867A>T)
n.317A>T
c.*1483A>T (n.*1483A>T)
n.202A>T
c.1886A>T (p.Glu629Val)
c.1823A>T (p.Glu608Val)
n.857A>T
c.1892A>T (p.Glu631Val)
1g.6470531T>CCA561434PLEKHG5c.1655A>G (p.Glu552Gly)
c.1829A>G (p.Glu610Gly)
c.1766A>G (p.Glu589Gly)
n.2131A>G
c.1862A>G (p.Glu621Gly)
c.1952A>G (p.Glu651Gly)
c.*1867A>G (n.*1867A>G)
n.317A>G
c.*1483A>G (n.*1483A>G)
n.202A>G
c.1886A>G (p.Glu629Gly)
c.1823A>G (p.Glu608Gly)
n.857A>G
c.1892A>G (p.Glu631Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.6470531T>GCA338124582PLEKHG5c.1655A>C (p.Glu552Ala)
c.1829A>C (p.Glu610Ala)
c.1766A>C (p.Glu589Ala)
n.2131A>C
c.1862A>C (p.Glu621Ala)
c.1952A>C (p.Glu651Ala)
c.*1867A>C (n.*1867A>C)
n.317A>C
c.*1483A>C (n.*1483A>C)
n.202A>C
c.1886A>C (p.Glu629Ala)
c.1823A>C (p.Glu608Ala)
n.857A>C
c.1892A>C (p.Glu631Ala)
1g.6470531T=CA1151524179PLEKHG5c.1655A= (p.Glu552=)
c.1829A= (p.Glu610=)
c.1766A= (p.Glu589=)
n.2131A=
c.1862A= (p.Glu621=)
c.1952A= (p.Glu651=)
c.*1867A= (n.*1867A=)
n.317A=
c.*1483A= (n.*1483A=)
n.202A=
c.1886A= (p.Glu629=)
c.1823A= (p.Glu608=)
n.857A=
c.1892A= (p.Glu631=)
1g.6470532C>ACA338124588PLEKHG5c.1654G>T (p.Glu552Ter)
c.1828G>T (p.Glu610Ter)
c.1765G>T (p.Glu589Ter)
n.2130G>T
c.1861G>T (p.Glu621Ter)
c.1951G>T (p.Glu651Ter)
c.*1866G>T (n.*1866G>T)
n.316G>T
c.*1482G>T (n.*1482G>T)
n.201G>T
c.1885G>T (p.Glu629Ter)
c.1822G>T (p.Glu608Ter)
n.856G>T
c.1891G>T (p.Glu631Ter)
1g.6470532C>GCA338124589PLEKHG5c.1654G>C (p.Glu552Gln)
c.1828G>C (p.Glu610Gln)
c.1765G>C (p.Glu589Gln)
n.2130G>C
c.1861G>C (p.Glu621Gln)
c.1951G>C (p.Glu651Gln)
c.*1866G>C (n.*1866G>C)
n.316G>C
c.*1482G>C (n.*1482G>C)
n.201G>C
c.1885G>C (p.Glu629Gln)
c.1822G>C (p.Glu608Gln)
n.856G>C
c.1891G>C (p.Glu631Gln)
1g.6470532C>TCA338124590PLEKHG5c.1654G>A (p.Glu552Lys)
c.1828G>A (p.Glu610Lys)
c.1765G>A (p.Glu589Lys)
n.2130G>A
c.1861G>A (p.Glu621Lys)
c.1951G>A (p.Glu651Lys)
c.*1866G>A (n.*1866G>A)
n.316G>A
c.*1482G>A (n.*1482G>A)
n.201G>A
c.1885G>A (p.Glu629Lys)
c.1822G>A (p.Glu608Lys)
n.856G>A
c.1891G>A (p.Glu631Lys)
gnomAD v4
1g.6470533C>ACA416022527PLEKHG5c.1653G>T (p.Val551=)
c.1827G>T (p.Val609=)
c.1764G>T (p.Val588=)
n.2129G>T
c.1860G>T (p.Val620=)
c.1950G>T (p.Val650=)
c.*1865G>T (n.*1865G>T)
n.315G>T
c.*1481G>T (n.*1481G>T)
n.200G>T
c.1884G>T (p.Val628=)
c.1821G>T (p.Val607=)
n.855G>T
c.1890G>T (p.Val630=)
1g.6470533C>GCA416022523PLEKHG5c.1653G>C (p.Val551=)
c.1827G>C (p.Val609=)
c.1764G>C (p.Val588=)
n.2129G>C
c.1860G>C (p.Val620=)
c.1950G>C (p.Val650=)
c.*1865G>C (n.*1865G>C)
n.315G>C
c.*1481G>C (n.*1481G>C)
n.200G>C
c.1884G>C (p.Val628=)
c.1821G>C (p.Val607=)
n.855G>C
c.1890G>C (p.Val630=)
1g.6470533C>TCA416022524PLEKHG5c.1653G>A (p.Val551=)
c.1827G>A (p.Val609=)
c.1764G>A (p.Val588=)
n.2129G>A
c.1860G>A (p.Val620=)
c.1950G>A (p.Val650=)
c.*1865G>A (n.*1865G>A)
n.315G>A
c.*1481G>A (n.*1481G>A)
n.200G>A
c.1884G>A (p.Val628=)
c.1821G>A (p.Val607=)
n.855G>A
c.1890G>A (p.Val630=)
ClinVar gnomAD v4 COSMIC COSMIC COSMIC
1g.6470534A>CCA338124593PLEKHG5c.1652T>G (p.Val551Gly)
c.1826T>G (p.Val609Gly)
c.1763T>G (p.Val588Gly)
n.2128T>G
c.1859T>G (p.Val620Gly)
c.1949T>G (p.Val650Gly)
c.*1864T>G (n.*1864T>G)
n.314T>G
c.*1480T>G (n.*1480T>G)
n.199T>G
c.1883T>G (p.Val628Gly)
c.1820T>G (p.Val607Gly)
n.854T>G
c.1889T>G (p.Val630Gly)
dbSNP COSMIC COSMIC COSMIC
1g.6470534A>GCA338124597PLEKHG5c.1652T>C (p.Val551Ala)
c.1826T>C (p.Val609Ala)
c.1763T>C (p.Val588Ala)
n.2128T>C
c.1859T>C (p.Val620Ala)
c.1949T>C (p.Val650Ala)
c.*1864T>C (n.*1864T>C)
n.314T>C
c.*1480T>C (n.*1480T>C)
n.199T>C
c.1883T>C (p.Val628Ala)
c.1820T>C (p.Val607Ala)
n.854T>C
c.1889T>C (p.Val630Ala)
1g.6470534A>TCA338124591PLEKHG5c.1652T>A (p.Val551Glu)
c.1826T>A (p.Val609Glu)
c.1763T>A (p.Val588Glu)
n.2128T>A
c.1859T>A (p.Val620Glu)
c.1949T>A (p.Val650Glu)
c.*1864T>A (n.*1864T>A)
n.314T>A
c.*1480T>A (n.*1480T>A)
n.199T>A
c.1883T>A (p.Val628Glu)
c.1820T>A (p.Val607Glu)
n.854T>A
c.1889T>A (p.Val630Glu)
1g.6470535C>ACA338124603PLEKHG5c.1651G>T (p.Val551Leu)
c.1825G>T (p.Val609Leu)
c.1762G>T (p.Val588Leu)
n.2127G>T
c.1858G>T (p.Val620Leu)
c.1948G>T (p.Val650Leu)
c.*1863G>T (n.*1863G>T)
n.313G>T
c.*1479G>T (n.*1479G>T)
n.198G>T
c.1882G>T (p.Val628Leu)
c.1819G>T (p.Val607Leu)
n.853G>T
c.1888G>T (p.Val630Leu)
1g.6470535C=CA1151524184PLEKHG5c.1651G= (p.Val551=)
c.1825G= (p.Val609=)
c.1762G= (p.Val588=)
n.2127G=
c.1858G= (p.Val620=)
c.1948G= (p.Val650=)
c.*1863G= (n.*1863G=)
n.313G=
c.*1479G= (n.*1479G=)
n.198G=
c.1882G= (p.Val628=)
c.1819G= (p.Val607=)
n.853G=
c.1888G= (p.Val630=)
1g.6470535C>GCA338124608PLEKHG5c.1651G>C (p.Val551Leu)
c.1825G>C (p.Val609Leu)
c.1762G>C (p.Val588Leu)
n.2127G>C
c.1858G>C (p.Val620Leu)
c.1948G>C (p.Val650Leu)
c.*1863G>C (n.*1863G>C)
n.313G>C
c.*1479G>C (n.*1479G>C)
n.198G>C
c.1882G>C (p.Val628Leu)
c.1819G>C (p.Val607Leu)
n.853G>C
c.1888G>C (p.Val630Leu)
1g.6470535C>TCA338124610PLEKHG5c.1651G>A (p.Val551Met)
c.1825G>A (p.Val609Met)
c.1762G>A (p.Val588Met)
n.2127G>A
c.1858G>A (p.Val620Met)
c.1948G>A (p.Val650Met)
c.*1863G>A (n.*1863G>A)
n.313G>A
c.*1479G>A (n.*1479G>A)
n.198G>A
c.1882G>A (p.Val628Met)
c.1819G>A (p.Val607Met)
n.853G>A
c.1888G>A (p.Val630Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6470536C>ACA561435PLEKHG5c.1650G>T (p.Val550=)
c.1824G>T (p.Val608=)
c.1761G>T (p.Val587=)
n.2126G>T
c.1857G>T (p.Val619=)
c.1947G>T (p.Val649=)
c.*1862G>T (n.*1862G>T)
n.312G>T
c.*1478G>T (n.*1478G>T)
n.197G>T
c.1881G>T (p.Val627=)
c.1818G>T (p.Val606=)
n.852G>T
c.1887G>T (p.Val629=)
ClinVar dbSNP ExAC gnomAD v4
1g.6470536C=CA1151524187PLEKHG5c.1650G= (p.Val550=)
c.1824G= (p.Val608=)
c.1761G= (p.Val587=)
n.2126G=
c.1857G= (p.Val619=)
c.1947G= (p.Val649=)
c.*1862G= (n.*1862G=)
n.312G=
c.*1478G= (n.*1478G=)
n.197G=
c.1881G= (p.Val627=)
c.1818G= (p.Val606=)
n.852G=
c.1887G= (p.Val629=)
1g.6470536C>GCA416022536PLEKHG5c.1650G>C (p.Val550=)
c.1824G>C (p.Val608=)
c.1761G>C (p.Val587=)
n.2126G>C
c.1857G>C (p.Val619=)
c.1947G>C (p.Val649=)
c.*1862G>C (n.*1862G>C)
n.312G>C
c.*1478G>C (n.*1478G>C)
n.197G>C
c.1881G>C (p.Val627=)
c.1818G>C (p.Val606=)
n.852G>C
c.1887G>C (p.Val629=)
1g.6470536C>TCA416022535PLEKHG5c.1650G>A (p.Val550=)
c.1824G>A (p.Val608=)
c.1761G>A (p.Val587=)
n.2126G>A
c.1857G>A (p.Val619=)
c.1947G>A (p.Val649=)
c.*1862G>A (n.*1862G>A)
n.312G>A
c.*1478G>A (n.*1478G>A)
n.197G>A
c.1881G>A (p.Val627=)
c.1818G>A (p.Val606=)
n.852G>A
c.1887G>A (p.Val629=)
1g.6470537A=CA1151524192PLEKHG5c.1649T= (p.Val550=)
c.1823T= (p.Val608=)
c.1760T= (p.Val587=)
n.2125T=
c.1856T= (p.Val619=)
c.1946T= (p.Val649=)
c.*1861T= (n.*1861T=)
n.311T=
c.*1477T= (n.*1477T=)
n.196T=
c.1880T= (p.Val627=)
c.1817T= (p.Val606=)
n.851T=
c.1886T= (p.Val629=)
1g.6470537A>CCA17236595PLEKHG5c.1649T>G (p.Val550Gly)
c.1823T>G (p.Val608Gly)
c.1760T>G (p.Val587Gly)
n.2125T>G
c.1856T>G (p.Val619Gly)
c.1946T>G (p.Val649Gly)
c.*1861T>G (n.*1861T>G)
n.311T>G
c.*1477T>G (n.*1477T>G)
n.196T>G
c.1880T>G (p.Val627Gly)
c.1817T>G (p.Val606Gly)
n.851T>G
c.1886T>G (p.Val629Gly)
dbSNP
1g.6470537A>GCA338124633PLEKHG5c.1649T>C (p.Val550Ala)
c.1823T>C (p.Val608Ala)
c.1760T>C (p.Val587Ala)
n.2125T>C
c.1856T>C (p.Val619Ala)
c.1946T>C (p.Val649Ala)
c.*1861T>C (n.*1861T>C)
n.311T>C
c.*1477T>C (n.*1477T>C)
n.196T>C
c.1880T>C (p.Val627Ala)
c.1817T>C (p.Val606Ala)
n.851T>C
c.1886T>C (p.Val629Ala)
1g.6470537A>TCA338124636PLEKHG5c.1649T>A (p.Val550Glu)
c.1823T>A (p.Val608Glu)
c.1760T>A (p.Val587Glu)
n.2125T>A
c.1856T>A (p.Val619Glu)
c.1946T>A (p.Val649Glu)
c.*1861T>A (n.*1861T>A)
n.311T>A
c.*1477T>A (n.*1477T>A)
n.196T>A
c.1880T>A (p.Val627Glu)
c.1817T>A (p.Val606Glu)
n.851T>A
c.1886T>A (p.Val629Glu)
1g.6470537_6470539delinsACCCA1151524194PLEKHG5c.1647_1649delinsGGT (p.Glu549=)
c.1821_1823delinsGGT (p.Glu607=)
c.1758_1760delinsGGT (p.Glu586=)
n.2123_2125delinsGGT
c.1854_1856delinsGGT (p.Glu618=)
c.1944_1946delinsGGT (p.Glu648=)
c.*1859_*1861delinsGGT (n.*1859_*1861delinsGGT)
n.309_311delinsGGT
c.*1475_*1477delinsGGT (n.*1475_*1477delinsGGT)
n.194_196delinsGGT
c.1878_1880delinsGGT (p.Glu626=)
c.1815_1817delinsGGT (p.Glu605=)
n.849_851delinsGGT
c.1884_1886delinsGGT (p.Glu628=)
1g.6470538C>ACA338124640PLEKHG5c.1648G>T (p.Val550Leu)
c.1822G>T (p.Val608Leu)
c.1759G>T (p.Val587Leu)
n.2124G>T
c.1855G>T (p.Val619Leu)
c.1945G>T (p.Val649Leu)
c.*1860G>T (n.*1860G>T)
n.310G>T
c.*1476G>T (n.*1476G>T)
n.195G>T
c.1879G>T (p.Val627Leu)
c.1816G>T (p.Val606Leu)
n.850G>T
c.1885G>T (p.Val629Leu)
1g.6470538C=CA1148408888PLEKHG5c.1648G= (p.Val550=)
c.1822G= (p.Val608=)
c.1759G= (p.Val587=)
n.2124G=
c.1855G= (p.Val619=)
c.1945G= (p.Val649=)
c.*1860G= (n.*1860G=)
n.310G=
c.*1476G= (n.*1476G=)
n.195G=
c.1879G= (p.Val627=)
c.1816G= (p.Val606=)
n.850G=
c.1885G= (p.Val629=)
1g.6470538C>GCA338124641PLEKHG5c.1648G>C (p.Val550Leu)
c.1822G>C (p.Val608Leu)
c.1759G>C (p.Val587Leu)
n.2124G>C
c.1855G>C (p.Val619Leu)
c.1945G>C (p.Val649Leu)
c.*1860G>C (n.*1860G>C)
n.310G>C
c.*1476G>C (n.*1476G>C)
n.195G>C
c.1879G>C (p.Val627Leu)
c.1816G>C (p.Val606Leu)
n.850G>C
c.1885G>C (p.Val629Leu)
1g.6470538C>TCA561436PLEKHG5c.1648G>A (p.Val550Met)
c.1822G>A (p.Val608Met)
c.1759G>A (p.Val587Met)
n.2124G>A
c.1855G>A (p.Val619Met)
c.1945G>A (p.Val649Met)
c.*1860G>A (n.*1860G>A)
n.310G>A
c.*1476G>A (n.*1476G>A)
n.195G>A
c.1879G>A (p.Val627Met)
c.1816G>A (p.Val606Met)
n.850G>A
c.1885G>A (p.Val629Met)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.6470538_6470539delCA521018776PLEKHG5c.1647_1648del (p.Glu549AspfsTer?)
c.1821_1822del (p.Glu607AspfsTer?)
c.1758_1759del (p.Glu586AspfsTer?)
n.2123_2124del
c.1854_1855del (p.Glu618AspfsTer?)
c.1944_1945del (p.Glu648AspfsTer?)
c.*1859_*1860del (n.*1859_*1860del)
n.309_310del
c.*1475_*1476del (n.*1475_*1476del)
n.194_195del
c.1878_1879del (p.Glu626AspfsTer?)
c.1815_1816del (p.Glu605AspfsTer?)
n.849_850del
c.1884_1885del (p.Glu628AspfsTer?)
dbSNP gnomAD v2 gnomAD v4
1g.6470539C>ACA338124642PLEKHG5c.1647G>T (p.Glu549Asp)
c.1821G>T (p.Glu607Asp)
c.1758G>T (p.Glu586Asp)
n.2123G>T
c.1854G>T (p.Glu618Asp)
c.1944G>T (p.Glu648Asp)
c.*1859G>T (n.*1859G>T)
n.309G>T
c.*1475G>T (n.*1475G>T)
n.194G>T
c.1878G>T (p.Glu626Asp)
c.1815G>T (p.Glu605Asp)
n.849G>T
c.1884G>T (p.Glu628Asp)
1g.6470539C=CA1151524200PLEKHG5c.1647G= (p.Glu549=)
c.1821G= (p.Glu607=)
c.1758G= (p.Glu586=)
n.2123G=
c.1854G= (p.Glu618=)
c.1944G= (p.Glu648=)
c.*1859G= (n.*1859G=)
n.309G=
c.*1475G= (n.*1475G=)
n.194G=
c.1878G= (p.Glu626=)
c.1815G= (p.Glu605=)
n.849G=
c.1884G= (p.Glu628=)
1g.6470539C>GCA338124643PLEKHG5c.1647G>C (p.Glu549Asp)
c.1821G>C (p.Glu607Asp)
c.1758G>C (p.Glu586Asp)
n.2123G>C
c.1854G>C (p.Glu618Asp)
c.1944G>C (p.Glu648Asp)
c.*1859G>C (n.*1859G>C)
n.309G>C
c.*1475G>C (n.*1475G>C)
n.194G>C
c.1878G>C (p.Glu626Asp)
c.1815G>C (p.Glu605Asp)
n.849G>C
c.1884G>C (p.Glu628Asp)
1g.6470539C>TCA561437PLEKHG5c.1647G>A (p.Glu549=)
c.1821G>A (p.Glu607=)
c.1758G>A (p.Glu586=)
n.2123G>A
c.1854G>A (p.Glu618=)
c.1944G>A (p.Glu648=)
c.*1859G>A (n.*1859G>A)
n.309G>A
c.*1475G>A (n.*1475G>A)
n.194G>A
c.1878G>A (p.Glu626=)
c.1815G>A (p.Glu605=)
n.849G>A
c.1884G>A (p.Glu628=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470540T>ACA338124656PLEKHG5c.1646A>T (p.Glu549Val)
c.1820A>T (p.Glu607Val)
c.1757A>T (p.Glu586Val)
n.2122A>T
c.1853A>T (p.Glu618Val)
c.1943A>T (p.Glu648Val)
c.*1858A>T (n.*1858A>T)
n.308A>T
c.*1474A>T (n.*1474A>T)
n.193A>T
c.1877A>T (p.Glu626Val)
c.1814A>T (p.Glu605Val)
n.848A>T
c.1883A>T (p.Glu628Val)
1g.6470540T>CCA338124651PLEKHG5c.1646A>G (p.Glu549Gly)
c.1820A>G (p.Glu607Gly)
c.1757A>G (p.Glu586Gly)
n.2122A>G
c.1853A>G (p.Glu618Gly)
c.1943A>G (p.Glu648Gly)
c.*1858A>G (n.*1858A>G)
n.308A>G
c.*1474A>G (n.*1474A>G)
n.193A>G
c.1877A>G (p.Glu626Gly)
c.1814A>G (p.Glu605Gly)
n.848A>G
c.1883A>G (p.Glu628Gly)
1g.6470540T>GCA338124648PLEKHG5c.1646A>C (p.Glu549Ala)
c.1820A>C (p.Glu607Ala)
c.1757A>C (p.Glu586Ala)
n.2122A>C
c.1853A>C (p.Glu618Ala)
c.1943A>C (p.Glu648Ala)
c.*1858A>C (n.*1858A>C)
n.308A>C
c.*1474A>C (n.*1474A>C)
n.193A>C
c.1877A>C (p.Glu626Ala)
c.1814A>C (p.Glu605Ala)
n.848A>C
c.1883A>C (p.Glu628Ala)
1g.6470541C>ACA338124667PLEKHG5c.1645G>T (p.Glu549Ter)
c.1819G>T (p.Glu607Ter)
c.1756G>T (p.Glu586Ter)
n.2121G>T
c.1852G>T (p.Glu618Ter)
c.1942G>T (p.Glu648Ter)
c.*1857G>T (n.*1857G>T)
n.307G>T
c.*1473G>T (n.*1473G>T)
n.192G>T
c.1876G>T (p.Glu626Ter)
c.1813G>T (p.Glu605Ter)
n.847G>T
c.1882G>T (p.Glu628Ter)
1g.6470541C>GCA338124682PLEKHG5c.1645G>C (p.Glu549Gln)
c.1819G>C (p.Glu607Gln)
c.1756G>C (p.Glu586Gln)
n.2121G>C
c.1852G>C (p.Glu618Gln)
c.1942G>C (p.Glu648Gln)
c.*1857G>C (n.*1857G>C)
n.307G>C
c.*1473G>C (n.*1473G>C)
n.192G>C
c.1876G>C (p.Glu626Gln)
c.1813G>C (p.Glu605Gln)
n.847G>C
c.1882G>C (p.Glu628Gln)
gnomAD v4
1g.6470541C>TCA338124684PLEKHG5c.1645G>A (p.Glu549Lys)
c.1819G>A (p.Glu607Lys)
c.1756G>A (p.Glu586Lys)
n.2121G>A
c.1852G>A (p.Glu618Lys)
c.1942G>A (p.Glu648Lys)
c.*1857G>A (n.*1857G>A)
n.307G>A
c.*1473G>A (n.*1473G>A)
n.192G>A
c.1876G>A (p.Glu626Lys)
c.1813G>A (p.Glu605Lys)
n.847G>A
c.1882G>A (p.Glu628Lys)
1g.6470542G>ACA561438PLEKHG5c.1644C>T (p.Tyr548=)
c.1818C>T (p.Tyr606=)
c.1755C>T (p.Tyr585=)
n.2120C>T
c.1851C>T (p.Tyr617=)
c.1941C>T (p.Tyr647=)
c.*1856C>T (n.*1856C>T)
n.306C>T
c.*1472C>T (n.*1472C>T)
n.191C>T
c.1875C>T (p.Tyr625=)
c.1812C>T (p.Tyr604=)
n.846C>T
c.1881C>T (p.Tyr627=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.6470542G>CCA338124703PLEKHG5c.1644C>G (p.Tyr548Ter)
c.1818C>G (p.Tyr606Ter)
c.1755C>G (p.Tyr585Ter)
n.2120C>G
c.1851C>G (p.Tyr617Ter)
c.1941C>G (p.Tyr647Ter)
c.*1856C>G (n.*1856C>G)
n.306C>G
c.*1472C>G (n.*1472C>G)
n.191C>G
c.1875C>G (p.Tyr625Ter)
c.1812C>G (p.Tyr604Ter)
n.846C>G
c.1881C>G (p.Tyr627Ter)
ClinVar gnomAD v4
1g.6470542G=CA1151524202PLEKHG5c.1644C= (p.Tyr548=)
c.1818C= (p.Tyr606=)
c.1755C= (p.Tyr585=)
n.2120C=
c.1851C= (p.Tyr617=)
c.1941C= (p.Tyr647=)
c.*1856C= (n.*1856C=)
n.306C=
c.*1472C= (n.*1472C=)
n.191C=
c.1875C= (p.Tyr625=)
c.1812C= (p.Tyr604=)
n.846C=
c.1881C= (p.Tyr627=)
1g.6470542G>TCA338124705PLEKHG5c.1644C>A (p.Tyr548Ter)
c.1818C>A (p.Tyr606Ter)
c.1755C>A (p.Tyr585Ter)
n.2120C>A
c.1851C>A (p.Tyr617Ter)
c.1941C>A (p.Tyr647Ter)
c.*1856C>A (n.*1856C>A)
n.306C>A
c.*1472C>A (n.*1472C>A)
n.191C>A
c.1875C>A (p.Tyr625Ter)
c.1812C>A (p.Tyr604Ter)
n.846C>A
c.1881C>A (p.Tyr627Ter)
gnomAD v4
1g.6470543T>ACA338124707PLEKHG5c.1643A>T (p.Tyr548Phe)
c.1817A>T (p.Tyr606Phe)
c.1754A>T (p.Tyr585Phe)
n.2119A>T
c.1850A>T (p.Tyr617Phe)
c.1940A>T (p.Tyr647Phe)
c.*1855A>T (n.*1855A>T)
n.305A>T
c.*1471A>T (n.*1471A>T)
n.190A>T
c.1874A>T (p.Tyr625Phe)
c.1811A>T (p.Tyr604Phe)
n.845A>T
c.1880A>T (p.Tyr627Phe)
1g.6470543T>CCA561439PLEKHG5c.1643A>G (p.Tyr548Cys)
c.1817A>G (p.Tyr606Cys)
c.1754A>G (p.Tyr585Cys)
n.2119A>G
c.1850A>G (p.Tyr617Cys)
c.1940A>G (p.Tyr647Cys)
c.*1855A>G (n.*1855A>G)
n.305A>G
c.*1471A>G (n.*1471A>G)
n.190A>G
c.1874A>G (p.Tyr625Cys)
c.1811A>G (p.Tyr604Cys)
n.845A>G
c.1880A>G (p.Tyr627Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470543T>GCA338124713PLEKHG5c.1643A>C (p.Tyr548Ser)
c.1817A>C (p.Tyr606Ser)
c.1754A>C (p.Tyr585Ser)
n.2119A>C
c.1850A>C (p.Tyr617Ser)
c.1940A>C (p.Tyr647Ser)
c.*1855A>C (n.*1855A>C)
n.305A>C
c.*1471A>C (n.*1471A>C)
n.190A>C
c.1874A>C (p.Tyr625Ser)
c.1811A>C (p.Tyr604Ser)
n.845A>C
c.1880A>C (p.Tyr627Ser)
1g.6470543T=CA1149124357PLEKHG5c.1643A= (p.Tyr548=)
c.1817A= (p.Tyr606=)
c.1754A= (p.Tyr585=)
n.2119A=
c.1850A= (p.Tyr617=)
c.1940A= (p.Tyr647=)
c.*1855A= (n.*1855A=)
n.305A=
c.*1471A= (n.*1471A=)
n.190A=
c.1874A= (p.Tyr625=)
c.1811A= (p.Tyr604=)
n.845A=
c.1880A= (p.Tyr627=)
1g.6470544A>CCA338124715PLEKHG5c.1642T>G (p.Tyr548Asp)
c.1816T>G (p.Tyr606Asp)
c.1753T>G (p.Tyr585Asp)
n.2118T>G
c.1849T>G (p.Tyr617Asp)
c.1939T>G (p.Tyr647Asp)
c.*1854T>G (n.*1854T>G)
n.304T>G
c.*1470T>G (n.*1470T>G)
n.189T>G
c.1873T>G (p.Tyr625Asp)
c.1810T>G (p.Tyr604Asp)
n.844T>G
c.1879T>G (p.Tyr627Asp)
1g.6470544A>GCA338124718PLEKHG5c.1642T>C (p.Tyr548His)
c.1816T>C (p.Tyr606His)
c.1753T>C (p.Tyr585His)
n.2118T>C
c.1849T>C (p.Tyr617His)
c.1939T>C (p.Tyr647His)
c.*1854T>C (n.*1854T>C)
n.304T>C
c.*1470T>C (n.*1470T>C)
n.189T>C
c.1873T>C (p.Tyr625His)
c.1810T>C (p.Tyr604His)
n.844T>C
c.1879T>C (p.Tyr627His)
1g.6470544A>TCA338124722PLEKHG5c.1642T>A (p.Tyr548Asn)
c.1816T>A (p.Tyr606Asn)
c.1753T>A (p.Tyr585Asn)
n.2118T>A
c.1849T>A (p.Tyr617Asn)
c.1939T>A (p.Tyr647Asn)
c.*1854T>A (n.*1854T>A)
n.304T>A
c.*1470T>A (n.*1470T>A)
n.189T>A
c.1873T>A (p.Tyr625Asn)
c.1810T>A (p.Tyr604Asn)
n.844T>A
c.1879T>A (p.Tyr627Asn)
1g.6470545G>ACA416022549PLEKHG5c.1641C>T (p.Ala547=)
c.1815C>T (p.Ala605=)
c.1752C>T (p.Ala584=)
n.2117C>T
c.1848C>T (p.Ala616=)
c.1938C>T (p.Ala646=)
c.*1853C>T (n.*1853C>T)
n.303C>T
c.*1469C>T (n.*1469C>T)
n.188C>T
c.1872C>T (p.Ala624=)
c.1809C>T (p.Ala603=)
n.843C>T
c.1878C>T (p.Ala626=)
dbSNP
1g.6470545G>CCA416022550PLEKHG5c.1641C>G (p.Ala547=)
c.1815C>G (p.Ala605=)
c.1752C>G (p.Ala584=)
n.2117C>G
c.1848C>G (p.Ala616=)
c.1938C>G (p.Ala646=)
c.*1853C>G (n.*1853C>G)
n.303C>G
c.*1469C>G (n.*1469C>G)
n.188C>G
c.1872C>G (p.Ala624=)
c.1809C>G (p.Ala603=)
n.843C>G
c.1878C>G (p.Ala626=)
1g.6470545G=CA1151524218PLEKHG5c.1641C= (p.Ala547=)
c.1815C= (p.Ala605=)
c.1752C= (p.Ala584=)
n.2117C=
c.1848C= (p.Ala616=)
c.1938C= (p.Ala646=)
c.*1853C= (n.*1853C=)
n.303C=
c.*1469C= (n.*1469C=)
n.188C=
c.1872C= (p.Ala624=)
c.1809C= (p.Ala603=)
n.843C=
c.1878C= (p.Ala626=)
1g.6470545G>TCA416022552PLEKHG5c.1641C>A (p.Ala547=)
c.1815C>A (p.Ala605=)
c.1752C>A (p.Ala584=)
n.2117C>A
c.1848C>A (p.Ala616=)
c.1938C>A (p.Ala646=)
c.*1853C>A (n.*1853C>A)
n.303C>A
c.*1469C>A (n.*1469C>A)
n.188C>A
c.1872C>A (p.Ala624=)
c.1809C>A (p.Ala603=)
n.843C>A
c.1878C>A (p.Ala626=)
gnomAD v4
1g.6470546G>ACA338124726PLEKHG5c.1640C>T (p.Ala547Val)
c.1814C>T (p.Ala605Val)
c.1751C>T (p.Ala584Val)
n.2116C>T
c.1847C>T (p.Ala616Val)
c.1937C>T (p.Ala646Val)
c.*1852C>T (n.*1852C>T)
n.302C>T
c.*1468C>T (n.*1468C>T)
n.187C>T
c.1871C>T (p.Ala624Val)
c.1808C>T (p.Ala603Val)
n.842C>T
c.1877C>T (p.Ala626Val)
1g.6470546G>CCA338124725PLEKHG5c.1640C>G (p.Ala547Gly)
c.1814C>G (p.Ala605Gly)
c.1751C>G (p.Ala584Gly)
n.2116C>G
c.1847C>G (p.Ala616Gly)
c.1937C>G (p.Ala646Gly)
c.*1852C>G (n.*1852C>G)
n.302C>G
c.*1468C>G (n.*1468C>G)
n.187C>G
c.1871C>G (p.Ala624Gly)
c.1808C>G (p.Ala603Gly)
n.842C>G
c.1877C>G (p.Ala626Gly)
dbSNP gnomAD v2 gnomAD v4
1g.6470546G=CA1151524223PLEKHG5c.1640C= (p.Ala547=)
c.1814C= (p.Ala605=)
c.1751C= (p.Ala584=)
n.2116C=
c.1847C= (p.Ala616=)
c.1937C= (p.Ala646=)
c.*1852C= (n.*1852C=)
n.302C=
c.*1468C= (n.*1468C=)
n.187C=
c.1871C= (p.Ala624=)
c.1808C= (p.Ala603=)
n.842C=
c.1877C= (p.Ala626=)
1g.6470546G>TCA338124724PLEKHG5c.1640C>A (p.Ala547Asp)
c.1814C>A (p.Ala605Asp)
c.1751C>A (p.Ala584Asp)
n.2116C>A
c.1847C>A (p.Ala616Asp)
c.1937C>A (p.Ala646Asp)
c.*1852C>A (n.*1852C>A)
n.302C>A
c.*1468C>A (n.*1468C>A)
n.187C>A
c.1871C>A (p.Ala624Asp)
c.1808C>A (p.Ala603Asp)
n.842C>A
c.1877C>A (p.Ala626Asp)
gnomAD v4
1g.6470547C>ACA338124735PLEKHG5c.1639G>T (p.Ala547Ser)
c.1813G>T (p.Ala605Ser)
c.1750G>T (p.Ala584Ser)
n.2115G>T
c.1846G>T (p.Ala616Ser)
c.1936G>T (p.Ala646Ser)
c.*1851G>T (n.*1851G>T)
n.301G>T
c.*1467G>T (n.*1467G>T)
n.186G>T
c.1870G>T (p.Ala624Ser)
c.1807G>T (p.Ala603Ser)
n.841G>T
c.1876G>T (p.Ala626Ser)
1g.6470547C=CA1151524248PLEKHG5c.1639G= (p.Ala547=)
c.1813G= (p.Ala605=)
c.1750G= (p.Ala584=)
n.2115G=
c.1846G= (p.Ala616=)
c.1936G= (p.Ala646=)
c.*1851G= (n.*1851G=)
n.301G=
c.*1467G= (n.*1467G=)
n.186G=
c.1870G= (p.Ala624=)
c.1807G= (p.Ala603=)
n.841G=
c.1876G= (p.Ala626=)
1g.6470547C>GCA17236619PLEKHG5c.1639G>C (p.Ala547Pro)
c.1813G>C (p.Ala605Pro)
c.1750G>C (p.Ala584Pro)
n.2115G>C
c.1846G>C (p.Ala616Pro)
c.1936G>C (p.Ala646Pro)
c.*1851G>C (n.*1851G>C)
n.301G>C
c.*1467G>C (n.*1467G>C)
n.186G>C
c.1870G>C (p.Ala624Pro)
c.1807G>C (p.Ala603Pro)
n.841G>C
c.1876G>C (p.Ala626Pro)
dbSNP
1g.6470547C>TCA561440PLEKHG5c.1639G>A (p.Ala547Thr)
c.1813G>A (p.Ala605Thr)
c.1750G>A (p.Ala584Thr)
n.2115G>A
c.1846G>A (p.Ala616Thr)
c.1936G>A (p.Ala646Thr)
c.*1851G>A (n.*1851G>A)
n.301G>A
c.*1467G>A (n.*1467G>A)
n.186G>A
c.1870G>A (p.Ala624Thr)
c.1807G>A (p.Ala603Thr)
n.841G>A
c.1876G>A (p.Ala626Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470548G>ACA17236646PLEKHG5c.1638C>T (p.Asp546=)
c.1812C>T (p.Asp604=)
c.1749C>T (p.Asp583=)
n.2114C>T
c.1845C>T (p.Asp615=)
c.1935C>T (p.Asp645=)
c.*1850C>T (n.*1850C>T)
n.300C>T
c.*1466C>T (n.*1466C>T)
n.185C>T
c.1869C>T (p.Asp623=)
c.1806C>T (p.Asp602=)
n.840C>T
c.1875C>T (p.Asp625=)
dbSNP gnomAD v3 gnomAD v4
1g.6470548G>CCA338124759PLEKHG5c.1638C>G (p.Asp546Glu)
c.1812C>G (p.Asp604Glu)
c.1749C>G (p.Asp583Glu)
n.2114C>G
c.1845C>G (p.Asp615Glu)
c.1935C>G (p.Asp645Glu)
c.*1850C>G (n.*1850C>G)
n.300C>G
c.*1466C>G (n.*1466C>G)
n.185C>G
c.1869C>G (p.Asp623Glu)
c.1806C>G (p.Asp602Glu)
n.840C>G
c.1875C>G (p.Asp625Glu)
1g.6470548G=CA1151524256PLEKHG5c.1638C= (p.Asp546=)
c.1812C= (p.Asp604=)
c.1749C= (p.Asp583=)
n.2114C=
c.1845C= (p.Asp615=)
c.1935C= (p.Asp645=)
c.*1850C= (n.*1850C=)
n.300C=
c.*1466C= (n.*1466C=)
n.185C=
c.1869C= (p.Asp623=)
c.1806C= (p.Asp602=)
n.840C=
c.1875C= (p.Asp625=)
1g.6470548G>TCA338124763PLEKHG5c.1638C>A (p.Asp546Glu)
c.1812C>A (p.Asp604Glu)
c.1749C>A (p.Asp583Glu)
n.2114C>A
c.1845C>A (p.Asp615Glu)
c.1935C>A (p.Asp645Glu)
c.*1850C>A (n.*1850C>A)
n.300C>A
c.*1466C>A (n.*1466C>A)
n.185C>A
c.1869C>A (p.Asp623Glu)
c.1806C>A (p.Asp602Glu)
n.840C>A
c.1875C>A (p.Asp625Glu)
dbSNP gnomAD v2 gnomAD v4
1g.6470549T>ACA338124764PLEKHG5c.1637A>T (p.Asp546Val)
c.1811A>T (p.Asp604Val)
c.1748A>T (p.Asp583Val)
n.2113A>T
c.1844A>T (p.Asp615Val)
c.1934A>T (p.Asp645Val)
c.*1849A>T (n.*1849A>T)
n.299A>T
c.*1465A>T (n.*1465A>T)
n.184A>T
c.1868A>T (p.Asp623Val)
c.1805A>T (p.Asp602Val)
n.839A>T
c.1874A>T (p.Asp625Val)
1g.6470549T>CCA338124768PLEKHG5c.1637A>G (p.Asp546Gly)
c.1811A>G (p.Asp604Gly)
c.1748A>G (p.Asp583Gly)
n.2113A>G
c.1844A>G (p.Asp615Gly)
c.1934A>G (p.Asp645Gly)
c.*1849A>G (n.*1849A>G)
n.299A>G
c.*1465A>G (n.*1465A>G)
n.184A>G
c.1868A>G (p.Asp623Gly)
c.1805A>G (p.Asp602Gly)
n.839A>G
c.1874A>G (p.Asp625Gly)
1g.6470549T>GCA338124783PLEKHG5c.1637A>C (p.Asp546Ala)
c.1811A>C (p.Asp604Ala)
c.1748A>C (p.Asp583Ala)
n.2113A>C
c.1844A>C (p.Asp615Ala)
c.1934A>C (p.Asp645Ala)
c.*1849A>C (n.*1849A>C)
n.299A>C
c.*1465A>C (n.*1465A>C)
n.184A>C
c.1868A>C (p.Asp623Ala)
c.1805A>C (p.Asp602Ala)
n.839A>C
c.1874A>C (p.Asp625Ala)
1g.6470550C>ACA338124789PLEKHG5c.1636G>T (p.Asp546Tyr)
c.1810G>T (p.Asp604Tyr)
c.1747G>T (p.Asp583Tyr)
n.2112G>T
c.1843G>T (p.Asp615Tyr)
c.1933G>T (p.Asp645Tyr)
c.*1848G>T (n.*1848G>T)
n.298G>T
c.*1464G>T (n.*1464G>T)
n.183G>T
c.1867G>T (p.Asp623Tyr)
c.1804G>T (p.Asp602Tyr)
n.838G>T
c.1873G>T (p.Asp625Tyr)
gnomAD v4
1g.6470550C=CA1151524264PLEKHG5c.1636G= (p.Asp546=)
c.1810G= (p.Asp604=)
c.1747G= (p.Asp583=)
n.2112G=
c.1843G= (p.Asp615=)
c.1933G= (p.Asp645=)
c.*1848G= (n.*1848G=)
n.298G=
c.*1464G= (n.*1464G=)
n.183G=
c.1867G= (p.Asp623=)
c.1804G= (p.Asp602=)
n.838G=
c.1873G= (p.Asp625=)
1g.6470550C>GCA338124794PLEKHG5c.1636G>C (p.Asp546His)
c.1810G>C (p.Asp604His)
c.1747G>C (p.Asp583His)
n.2112G>C
c.1843G>C (p.Asp615His)
c.1933G>C (p.Asp645His)
c.*1848G>C (n.*1848G>C)
n.298G>C
c.*1464G>C (n.*1464G>C)
n.183G>C
c.1867G>C (p.Asp623His)
c.1804G>C (p.Asp602His)
n.838G>C
c.1873G>C (p.Asp625His)
1g.6470550C>TCA338124793PLEKHG5c.1636G>A (p.Asp546Asn)
c.1810G>A (p.Asp604Asn)
c.1747G>A (p.Asp583Asn)
n.2112G>A
c.1843G>A (p.Asp615Asn)
c.1933G>A (p.Asp645Asn)
c.*1848G>A (n.*1848G>A)
n.298G>A
c.*1464G>A (n.*1464G>A)
n.183G>A
c.1867G>A (p.Asp623Asn)
c.1804G>A (p.Asp602Asn)
n.838G>A
c.1873G>A (p.Asp625Asn)
dbSNP
1g.6470551G>ACA416022574PLEKHG5c.1635C>T (p.Ile545=)
c.1809C>T (p.Ile603=)
c.1746C>T (p.Ile582=)
n.2111C>T
c.1842C>T (p.Ile614=)
c.1932C>T (p.Ile644=)
c.*1847C>T (n.*1847C>T)
n.297C>T
c.*1463C>T (n.*1463C>T)
n.182C>T
c.1866C>T (p.Ile622=)
c.1803C>T (p.Ile601=)
n.837C>T
c.1872C>T (p.Ile624=)
ClinVar dbSNP gnomAD v4
1g.6470551G>CCA338124796PLEKHG5c.1635C>G (p.Ile545Met)
c.1809C>G (p.Ile603Met)
c.1746C>G (p.Ile582Met)
n.2111C>G
c.1842C>G (p.Ile614Met)
c.1932C>G (p.Ile644Met)
c.*1847C>G (n.*1847C>G)
n.297C>G
c.*1463C>G (n.*1463C>G)
n.182C>G
c.1866C>G (p.Ile622Met)
c.1803C>G (p.Ile601Met)
n.837C>G
c.1872C>G (p.Ile624Met)
1g.6470551G=CA1151524271PLEKHG5c.1635C= (p.Ile545=)
c.1809C= (p.Ile603=)
c.1746C= (p.Ile582=)
n.2111C=
c.1842C= (p.Ile614=)
c.1932C= (p.Ile644=)
c.*1847C= (n.*1847C=)
n.297C=
c.*1463C= (n.*1463C=)
n.182C=
c.1866C= (p.Ile622=)
c.1803C= (p.Ile601=)
n.837C=
c.1872C= (p.Ile624=)
1g.6470551G>TCA416022570PLEKHG5c.1635C>A (p.Ile545=)
c.1809C>A (p.Ile603=)
c.1746C>A (p.Ile582=)
n.2111C>A
c.1842C>A (p.Ile614=)
c.1932C>A (p.Ile644=)
c.*1847C>A (n.*1847C>A)
n.297C>A
c.*1463C>A (n.*1463C>A)
n.182C>A
c.1866C>A (p.Ile622=)
c.1803C>A (p.Ile601=)
n.837C>A
c.1872C>A (p.Ile624=)
gnomAD v4
1g.6470552A=CA1151524277PLEKHG5c.1634T= (p.Ile545=)
c.1808T= (p.Ile603=)
c.1745T= (p.Ile582=)
n.2110T=
c.1841T= (p.Ile614=)
c.1931T= (p.Ile644=)
c.*1846T= (n.*1846T=)
n.296T=
c.*1462T= (n.*1462T=)
n.181T=
c.1865T= (p.Ile622=)
c.1802T= (p.Ile601=)
n.836T=
c.1871T= (p.Ile624=)
1g.6470552A>CCA338124800PLEKHG5c.1634T>G (p.Ile545Ser)
c.1808T>G (p.Ile603Ser)
c.1745T>G (p.Ile582Ser)
n.2110T>G
c.1841T>G (p.Ile614Ser)
c.1931T>G (p.Ile644Ser)
c.*1846T>G (n.*1846T>G)
n.296T>G
c.*1462T>G (n.*1462T>G)
n.181T>G
c.1865T>G (p.Ile622Ser)
c.1802T>G (p.Ile601Ser)
n.836T>G
c.1871T>G (p.Ile624Ser)
1g.6470552A>GCA338124805PLEKHG5c.1634T>C (p.Ile545Thr)
c.1808T>C (p.Ile603Thr)
c.1745T>C (p.Ile582Thr)
n.2110T>C
c.1841T>C (p.Ile614Thr)
c.1931T>C (p.Ile644Thr)
c.*1846T>C (n.*1846T>C)
n.296T>C
c.*1462T>C (n.*1462T>C)
n.181T>C
c.1865T>C (p.Ile622Thr)
c.1802T>C (p.Ile601Thr)
n.836T>C
c.1871T>C (p.Ile624Thr)
dbSNP gnomAD v3 gnomAD v4
1g.6470552A>TCA338124811PLEKHG5c.1634T>A (p.Ile545Asn)
c.1808T>A (p.Ile603Asn)
c.1745T>A (p.Ile582Asn)
n.2110T>A
c.1841T>A (p.Ile614Asn)
c.1931T>A (p.Ile644Asn)
c.*1846T>A (n.*1846T>A)
n.296T>A
c.*1462T>A (n.*1462T>A)
n.181T>A
c.1865T>A (p.Ile622Asn)
c.1802T>A (p.Ile601Asn)
n.836T>A
c.1871T>A (p.Ile624Asn)
1g.6470553T>ACA338124846PLEKHG5c.1633A>T (p.Ile545Phe)
c.1807A>T (p.Ile603Phe)
c.1744A>T (p.Ile582Phe)
n.2109A>T
c.1840A>T (p.Ile614Phe)
c.1930A>T (p.Ile644Phe)
c.*1845A>T (n.*1845A>T)
n.295A>T
c.*1461A>T (n.*1461A>T)
n.180A>T
c.1864A>T (p.Ile622Phe)
c.1801A>T (p.Ile601Phe)
n.835A>T
c.1870A>T (p.Ile624Phe)
1g.6470553T>CCA338124864PLEKHG5c.1633A>G (p.Ile545Val)
c.1807A>G (p.Ile603Val)
c.1744A>G (p.Ile582Val)
n.2109A>G
c.1840A>G (p.Ile614Val)
c.1930A>G (p.Ile644Val)
c.*1845A>G (n.*1845A>G)
n.295A>G
c.*1461A>G (n.*1461A>G)
n.180A>G
c.1864A>G (p.Ile622Val)
c.1801A>G (p.Ile601Val)
n.835A>G
c.1870A>G (p.Ile624Val)
1g.6470553T>GCA338124854PLEKHG5c.1633A>C (p.Ile545Leu)
c.1807A>C (p.Ile603Leu)
c.1744A>C (p.Ile582Leu)
n.2109A>C
c.1840A>C (p.Ile614Leu)
c.1930A>C (p.Ile644Leu)
c.*1845A>C (n.*1845A>C)
n.295A>C
c.*1461A>C (n.*1461A>C)
n.180A>C
c.1864A>C (p.Ile622Leu)
c.1801A>C (p.Ile601Leu)
n.835A>C
c.1870A>C (p.Ile624Leu)
1g.6470554G>ACA561441PLEKHG5c.1632C>T (p.Arg544=)
c.1806C>T (p.Arg602=)
c.1743C>T (p.Arg581=)
n.2108C>T
c.1839C>T (p.Arg613=)
c.1929C>T (p.Arg643=)
c.*1844C>T (n.*1844C>T)
n.294C>T
c.*1460C>T (n.*1460C>T)
n.179C>T
c.1863C>T (p.Arg621=)
c.1800C>T (p.Arg600=)
n.834C>T
c.1869C>T (p.Arg623=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.6470554G>CCA416022591PLEKHG5c.1632C>G (p.Arg544=)
c.1806C>G (p.Arg602=)
c.1743C>G (p.Arg581=)
n.2108C>G
c.1839C>G (p.Arg613=)
c.1929C>G (p.Arg643=)
c.*1844C>G (n.*1844C>G)
n.294C>G
c.*1460C>G (n.*1460C>G)
n.179C>G
c.1863C>G (p.Arg621=)
c.1800C>G (p.Arg600=)
n.834C>G
c.1869C>G (p.Arg623=)
1g.6470554G=CA1151524281PLEKHG5c.1632C= (p.Arg544=)
c.1806C= (p.Arg602=)
c.1743C= (p.Arg581=)
n.2108C=
c.1839C= (p.Arg613=)
c.1929C= (p.Arg643=)
c.*1844C= (n.*1844C=)
n.294C=
c.*1460C= (n.*1460C=)
n.179C=
c.1863C= (p.Arg621=)
c.1800C= (p.Arg600=)
n.834C=
c.1869C= (p.Arg623=)
1g.6470554G>TCA416022590PLEKHG5c.1632C>A (p.Arg544=)
c.1806C>A (p.Arg602=)
c.1743C>A (p.Arg581=)
n.2108C>A
c.1839C>A (p.Arg613=)
c.1929C>A (p.Arg643=)
c.*1844C>A (n.*1844C>A)
n.294C>A
c.*1460C>A (n.*1460C>A)
n.179C>A
c.1863C>A (p.Arg621=)
c.1800C>A (p.Arg600=)
n.834C>A
c.1869C>A (p.Arg623=)
gnomAD v4
1g.6470555C>ACA338124868PLEKHG5c.1631G>T (p.Arg544Leu)
c.1805G>T (p.Arg602Leu)
c.1742G>T (p.Arg581Leu)
n.2107G>T
c.1838G>T (p.Arg613Leu)
c.1928G>T (p.Arg643Leu)
c.*1843G>T (n.*1843G>T)
n.293G>T
c.*1459G>T (n.*1459G>T)
n.178G>T
c.1862G>T (p.Arg621Leu)
c.1799G>T (p.Arg600Leu)
n.833G>T
c.1868G>T (p.Arg623Leu)
1g.6470555C=CA1151524291PLEKHG5c.1631G= (p.Arg544=)
c.1805G= (p.Arg602=)
c.1742G= (p.Arg581=)
n.2107G=
c.1838G= (p.Arg613=)
c.1928G= (p.Arg643=)
c.*1843G= (n.*1843G=)
n.293G=
c.*1459G= (n.*1459G=)
n.178G=
c.1862G= (p.Arg621=)
c.1799G= (p.Arg600=)
n.833G=
c.1868G= (p.Arg623=)
1g.6470555C>GCA338124871PLEKHG5c.1631G>C (p.Arg544Pro)
c.1805G>C (p.Arg602Pro)
c.1742G>C (p.Arg581Pro)
n.2107G>C
c.1838G>C (p.Arg613Pro)
c.1928G>C (p.Arg643Pro)
c.*1843G>C (n.*1843G>C)
n.293G>C
c.*1459G>C (n.*1459G>C)
n.178G>C
c.1862G>C (p.Arg621Pro)
c.1799G>C (p.Arg600Pro)
n.833G>C
c.1868G>C (p.Arg623Pro)
1g.6470555C>TCA338124878PLEKHG5c.1631G>A (p.Arg544His)
c.1805G>A (p.Arg602His)
c.1742G>A (p.Arg581His)
n.2107G>A
c.1838G>A (p.Arg613His)
c.1928G>A (p.Arg643His)
c.*1843G>A (n.*1843G>A)
n.293G>A
c.*1459G>A (n.*1459G>A)
n.178G>A
c.1862G>A (p.Arg621His)
c.1799G>A (p.Arg600His)
n.833G>A
c.1868G>A (p.Arg623His)
dbSNP gnomAD v2 gnomAD v4
1g.6470556G>ACA17236649PLEKHG5c.1630C>T (p.Arg544Cys)
c.1804C>T (p.Arg602Cys)
c.1741C>T (p.Arg581Cys)
n.2106C>T
c.1837C>T (p.Arg613Cys)
c.1927C>T (p.Arg643Cys)
c.*1842C>T (n.*1842C>T)
n.292C>T
c.*1458C>T (n.*1458C>T)
n.177C>T
c.1861C>T (p.Arg621Cys)
c.1798C>T (p.Arg600Cys)
n.832C>T
c.1867C>T (p.Arg623Cys)
ClinVar dbSNP gnomAD v4
1g.6470556G>CCA338124905PLEKHG5c.1630C>G (p.Arg544Gly)
c.1804C>G (p.Arg602Gly)
c.1741C>G (p.Arg581Gly)
n.2106C>G
c.1837C>G (p.Arg613Gly)
c.1927C>G (p.Arg643Gly)
c.*1842C>G (n.*1842C>G)
n.292C>G
c.*1458C>G (n.*1458C>G)
n.177C>G
c.1861C>G (p.Arg621Gly)
c.1798C>G (p.Arg600Gly)
n.832C>G
c.1867C>G (p.Arg623Gly)
1g.6470556G=CA1151524295PLEKHG5c.1630C= (p.Arg544=)
c.1804C= (p.Arg602=)
c.1741C= (p.Arg581=)
n.2106C=
c.1837C= (p.Arg613=)
c.1927C= (p.Arg643=)
c.*1842C= (n.*1842C=)
n.292C=
c.*1458C= (n.*1458C=)
n.177C=
c.1861C= (p.Arg621=)
c.1798C= (p.Arg600=)
n.832C=
c.1867C= (p.Arg623=)
1g.6470556G>TCA338124908PLEKHG5c.1630C>A (p.Arg544Ser)
c.1804C>A (p.Arg602Ser)
c.1741C>A (p.Arg581Ser)
n.2106C>A
c.1837C>A (p.Arg613Ser)
c.1927C>A (p.Arg643Ser)
c.*1842C>A (n.*1842C>A)
n.292C>A
c.*1458C>A (n.*1458C>A)
n.177C>A
c.1861C>A (p.Arg621Ser)
c.1798C>A (p.Arg600Ser)
n.832C>A
c.1867C>A (p.Arg623Ser)
dbSNP gnomAD v3 gnomAD v4
1g.6470557G>ACA416022595PLEKHG5c.1629C>T (p.Ser543=)
c.1803C>T (p.Ser601=)
c.1740C>T (p.Ser580=)
n.2105C>T
c.1836C>T (p.Ser612=)
c.1926C>T (p.Ser642=)
c.*1841C>T (n.*1841C>T)
n.291C>T
c.*1457C>T (n.*1457C>T)
n.176C>T
c.1860C>T (p.Ser620=)
c.1797C>T (p.Ser599=)
n.831C>T
c.1866C>T (p.Ser622=)
gnomAD v4
1g.6470557G>CCA338124928PLEKHG5c.1629C>G (p.Ser543Arg)
c.1803C>G (p.Ser601Arg)
c.1740C>G (p.Ser580Arg)
n.2105C>G
c.1836C>G (p.Ser612Arg)
c.1926C>G (p.Ser642Arg)
c.*1841C>G (n.*1841C>G)
n.291C>G
c.*1457C>G (n.*1457C>G)
n.176C>G
c.1860C>G (p.Ser620Arg)
c.1797C>G (p.Ser599Arg)
n.831C>G
c.1866C>G (p.Ser622Arg)
1g.6470557G>TCA338124941PLEKHG5c.1629C>A (p.Ser543Arg)
c.1803C>A (p.Ser601Arg)
c.1740C>A (p.Ser580Arg)
n.2105C>A
c.1836C>A (p.Ser612Arg)
c.1926C>A (p.Ser642Arg)
c.*1841C>A (n.*1841C>A)
n.291C>A
c.*1457C>A (n.*1457C>A)
n.176C>A
c.1860C>A (p.Ser620Arg)
c.1797C>A (p.Ser599Arg)
n.831C>A
c.1866C>A (p.Ser622Arg)
1g.6470561_6470586delCA2586963996PLEKHG5c.1604_1629del (p.Arg535ProfsTer?)
c.1778_1803del (p.Arg593ProfsTer?)
c.1715_1740del (p.Arg572ProfsTer?)
n.2080_2105del
c.1811_1836del (p.Arg604ProfsTer?)
c.1901_1926del (p.Arg634ProfsTer?)
c.*1816_*1841del (n.*1816_*1841del)
n.266_291del
c.*1432_*1457del (n.*1432_*1457del)
n.151_176del
c.1835_1860del (p.Arg612ProfsTer?)
c.1772_1797del (p.Arg591ProfsTer?)
n.806_831del
c.1841_1866del (p.Arg614ProfsTer?)
1g.6470558C>ACA338124946PLEKHG5c.1628G>T (p.Ser543Ile)
c.1802G>T (p.Ser601Ile)
c.1739G>T (p.Ser580Ile)
n.2104G>T
c.1835G>T (p.Ser612Ile)
c.1925G>T (p.Ser642Ile)
c.*1840G>T (n.*1840G>T)
n.290G>T
c.*1456G>T (n.*1456G>T)
n.175G>T
c.1859G>T (p.Ser620Ile)
c.1796G>T (p.Ser599Ile)
n.830G>T
c.1865G>T (p.Ser622Ile)
gnomAD v4
1g.6470558C>GCA338124948PLEKHG5c.1628G>C (p.Ser543Thr)
c.1802G>C (p.Ser601Thr)
c.1739G>C (p.Ser580Thr)
n.2104G>C
c.1835G>C (p.Ser612Thr)
c.1925G>C (p.Ser642Thr)
c.*1840G>C (n.*1840G>C)
n.290G>C
c.*1456G>C (n.*1456G>C)
n.175G>C
c.1859G>C (p.Ser620Thr)
c.1796G>C (p.Ser599Thr)
n.830G>C
c.1865G>C (p.Ser622Thr)
1g.6470558C>TCA338124950PLEKHG5c.1628G>A (p.Ser543Asn)
c.1802G>A (p.Ser601Asn)
c.1739G>A (p.Ser580Asn)
n.2104G>A
c.1835G>A (p.Ser612Asn)
c.1925G>A (p.Ser642Asn)
c.*1840G>A (n.*1840G>A)
n.290G>A
c.*1456G>A (n.*1456G>A)
n.175G>A
c.1859G>A (p.Ser620Asn)
c.1796G>A (p.Ser599Asn)
n.830G>A
c.1865G>A (p.Ser622Asn)
gnomAD v4
1g.6470559T>ACA338124953PLEKHG5c.1627A>T (p.Ser543Cys)
c.1801A>T (p.Ser601Cys)
c.1738A>T (p.Ser580Cys)
n.2103A>T
c.1834A>T (p.Ser612Cys)
c.1924A>T (p.Ser642Cys)
c.*1839A>T (n.*1839A>T)
n.289A>T
c.*1455A>T (n.*1455A>T)
n.174A>T
c.1858A>T (p.Ser620Cys)
c.1795A>T (p.Ser599Cys)
n.829A>T
c.1864A>T (p.Ser622Cys)
1g.6470559T>CCA338124963PLEKHG5c.1627A>G (p.Ser543Gly)
c.1801A>G (p.Ser601Gly)
c.1738A>G (p.Ser580Gly)
n.2103A>G
c.1834A>G (p.Ser612Gly)
c.1924A>G (p.Ser642Gly)
c.*1839A>G (n.*1839A>G)
n.289A>G
c.*1455A>G (n.*1455A>G)
n.174A>G
c.1858A>G (p.Ser620Gly)
c.1795A>G (p.Ser599Gly)
n.829A>G
c.1864A>G (p.Ser622Gly)
dbSNP
1g.6470559T>GCA338124957PLEKHG5c.1627A>C (p.Ser543Arg)
c.1801A>C (p.Ser601Arg)
c.1738A>C (p.Ser580Arg)
n.2103A>C
c.1834A>C (p.Ser612Arg)
c.1924A>C (p.Ser642Arg)
c.*1839A>C (n.*1839A>C)
n.289A>C
c.*1455A>C (n.*1455A>C)
n.174A>C
c.1858A>C (p.Ser620Arg)
c.1795A>C (p.Ser599Arg)
n.829A>C
c.1864A>C (p.Ser622Arg)
1g.6470560C>ACA561442PLEKHG5c.1626G>T (p.Val542=)
c.1800G>T (p.Val600=)
c.1737G>T (p.Val579=)
n.2102G>T
c.1833G>T (p.Val611=)
c.1923G>T (p.Val641=)
c.*1838G>T (n.*1838G>T)
n.288G>T
c.*1454G>T (n.*1454G>T)
n.173G>T
c.1857G>T (p.Val619=)
c.1794G>T (p.Val598=)
n.828G>T
c.1863G>T (p.Val621=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470560C=CA1143499748PLEKHG5c.1626G= (p.Val542=)
c.1800G= (p.Val600=)
c.1737G= (p.Val579=)
n.2102G=
c.1833G= (p.Val611=)
c.1923G= (p.Val641=)
c.*1838G= (n.*1838G=)
n.288G=
c.*1454G= (n.*1454G=)
n.173G=
c.1857G= (p.Val619=)
c.1794G= (p.Val598=)
n.828G=
c.1863G= (p.Val621=)
1g.6470560C>GCA416022605PLEKHG5c.1626G>C (p.Val542=)
c.1800G>C (p.Val600=)
c.1737G>C (p.Val579=)
n.2102G>C
c.1833G>C (p.Val611=)
c.1923G>C (p.Val641=)
c.*1838G>C (n.*1838G>C)
n.288G>C
c.*1454G>C (n.*1454G>C)
n.173G>C
c.1857G>C (p.Val619=)
c.1794G>C (p.Val598=)
n.828G>C
c.1863G>C (p.Val621=)
1g.6470560C>TCA416022606PLEKHG5c.1626G>A (p.Val542=)
c.1800G>A (p.Val600=)
c.1737G>A (p.Val579=)
n.2102G>A
c.1833G>A (p.Val611=)
c.1923G>A (p.Val641=)
c.*1838G>A (n.*1838G>A)
n.288G>A
c.*1454G>A (n.*1454G>A)
n.173G>A
c.1857G>A (p.Val619=)
c.1794G>A (p.Val598=)
n.828G>A
c.1863G>A (p.Val621=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6470561A=CA1151524306PLEKHG5c.1625T= (p.Val542=)
c.1799T= (p.Val600=)
c.1736T= (p.Val579=)
n.2101T=
c.1832T= (p.Val611=)
c.1922T= (p.Val641=)
c.*1837T= (n.*1837T=)
n.287T=
c.*1453T= (n.*1453T=)
n.172T=
c.1856T= (p.Val619=)
c.1793T= (p.Val598=)
n.827T=
c.1862T= (p.Val621=)
1g.6470561A>CCA17236657PLEKHG5c.1625T>G (p.Val542Gly)
c.1799T>G (p.Val600Gly)
c.1736T>G (p.Val579Gly)
n.2101T>G
c.1832T>G (p.Val611Gly)
c.1922T>G (p.Val641Gly)
c.*1837T>G (n.*1837T>G)
n.287T>G
c.*1453T>G (n.*1453T>G)
n.172T>G
c.1856T>G (p.Val619Gly)
c.1793T>G (p.Val598Gly)
n.827T>G
c.1862T>G (p.Val621Gly)
dbSNP gnomAD v4 COSMIC COSMIC COSMIC
1g.6470561A>GCA338124970PLEKHG5c.1625T>C (p.Val542Ala)
c.1799T>C (p.Val600Ala)
c.1736T>C (p.Val579Ala)
n.2101T>C
c.1832T>C (p.Val611Ala)
c.1922T>C (p.Val641Ala)
c.*1837T>C (n.*1837T>C)
n.287T>C
c.*1453T>C (n.*1453T>C)
n.172T>C
c.1856T>C (p.Val619Ala)
c.1793T>C (p.Val598Ala)
n.827T>C
c.1862T>C (p.Val621Ala)
1g.6470561A>TCA338124974PLEKHG5c.1625T>A (p.Val542Glu)
c.1799T>A (p.Val600Glu)
c.1736T>A (p.Val579Glu)
n.2101T>A
c.1832T>A (p.Val611Glu)
c.1922T>A (p.Val641Glu)
c.*1837T>A (n.*1837T>A)
n.287T>A
c.*1453T>A (n.*1453T>A)
n.172T>A
c.1856T>A (p.Val619Glu)
c.1793T>A (p.Val598Glu)
n.827T>A
c.1862T>A (p.Val621Glu)
1g.6470562C>ACA338124976PLEKHG5c.1624G>T (p.Val542Leu)
c.1798G>T (p.Val600Leu)
c.1735G>T (p.Val579Leu)
n.2100G>T
c.1831G>T (p.Val611Leu)
c.1921G>T (p.Val641Leu)
c.*1836G>T (n.*1836G>T)
n.286G>T
c.*1452G>T (n.*1452G>T)
n.171G>T
c.1855G>T (p.Val619Leu)
c.1792G>T (p.Val598Leu)
n.826G>T
c.1861G>T (p.Val621Leu)
1g.6470562C=CA1151524312PLEKHG5c.1624G= (p.Val542=)
c.1798G= (p.Val600=)
c.1735G= (p.Val579=)
n.2100G=
c.1831G= (p.Val611=)
c.1921G= (p.Val641=)
c.*1836G= (n.*1836G=)
n.286G=
c.*1452G= (n.*1452G=)
n.171G=
c.1855G= (p.Val619=)
c.1792G= (p.Val598=)
n.826G=
c.1861G= (p.Val621=)
1g.6470562C>GCA338124980PLEKHG5c.1624G>C (p.Val542Leu)
c.1798G>C (p.Val600Leu)
c.1735G>C (p.Val579Leu)
n.2100G>C
c.1831G>C (p.Val611Leu)
c.1921G>C (p.Val641Leu)
c.*1836G>C (n.*1836G>C)
n.286G>C
c.*1452G>C (n.*1452G>C)
n.171G>C
c.1855G>C (p.Val619Leu)
c.1792G>C (p.Val598Leu)
n.826G>C
c.1861G>C (p.Val621Leu)
1g.6470562C>TCA338125001PLEKHG5c.1624G>A (p.Val542Met)
c.1798G>A (p.Val600Met)
c.1735G>A (p.Val579Met)
n.2100G>A
c.1831G>A (p.Val611Met)
c.1921G>A (p.Val641Met)
c.*1836G>A (n.*1836G>A)
n.286G>A
c.*1452G>A (n.*1452G>A)
n.171G>A
c.1855G>A (p.Val619Met)
c.1792G>A (p.Val598Met)
n.826G>A
c.1861G>A (p.Val621Met)
dbSNP gnomAD v3 gnomAD v4
1g.6470563C>ACA416022612PLEKHG5c.1623G>T (p.Val541=)
c.1797G>T (p.Val599=)
c.1734G>T (p.Val578=)
n.2099G>T
c.1830G>T (p.Val610=)
c.1920G>T (p.Val640=)
c.*1835G>T (n.*1835G>T)
n.285G>T
c.*1451G>T (n.*1451G>T)
n.170G>T
c.1854G>T (p.Val618=)
c.1791G>T (p.Val597=)
n.825G>T
c.1860G>T (p.Val620=)
1g.6470563C>GCA416022617PLEKHG5c.1623G>C (p.Val541=)
c.1797G>C (p.Val599=)
c.1734G>C (p.Val578=)
n.2099G>C
c.1830G>C (p.Val610=)
c.1920G>C (p.Val640=)
c.*1835G>C (n.*1835G>C)
n.285G>C
c.*1451G>C (n.*1451G>C)
n.170G>C
c.1854G>C (p.Val618=)
c.1791G>C (p.Val597=)
n.825G>C
c.1860G>C (p.Val620=)
1g.6470563C>TCA416022615PLEKHG5c.1623G>A (p.Val541=)
c.1797G>A (p.Val599=)
c.1734G>A (p.Val578=)
n.2099G>A
c.1830G>A (p.Val610=)
c.1920G>A (p.Val640=)
c.*1835G>A (n.*1835G>A)
n.285G>A
c.*1451G>A (n.*1451G>A)
n.170G>A
c.1854G>A (p.Val618=)
c.1791G>A (p.Val597=)
n.825G>A
c.1860G>A (p.Val620=)
ClinVar
1g.6470564A>CCA338125040PLEKHG5c.1622T>G (p.Val541Gly)
c.1796T>G (p.Val599Gly)
c.1733T>G (p.Val578Gly)
n.2098T>G
c.1829T>G (p.Val610Gly)
c.1919T>G (p.Val640Gly)
c.*1834T>G (n.*1834T>G)
n.284T>G
c.*1450T>G (n.*1450T>G)
n.169T>G
c.1853T>G (p.Val618Gly)
c.1790T>G (p.Val597Gly)
n.824T>G
c.1859T>G (p.Val620Gly)
1g.6470564A>GCA338125055PLEKHG5c.1622T>C (p.Val541Ala)
c.1796T>C (p.Val599Ala)
c.1733T>C (p.Val578Ala)
n.2098T>C
c.1829T>C (p.Val610Ala)
c.1919T>C (p.Val640Ala)
c.*1834T>C (n.*1834T>C)
n.284T>C
c.*1450T>C (n.*1450T>C)
n.169T>C
c.1853T>C (p.Val618Ala)
c.1790T>C (p.Val597Ala)
n.824T>C
c.1859T>C (p.Val620Ala)
gnomAD v4
1g.6470564A>TCA338125046PLEKHG5c.1622T>A (p.Val541Glu)
c.1796T>A (p.Val599Glu)
c.1733T>A (p.Val578Glu)
n.2098T>A
c.1829T>A (p.Val610Glu)
c.1919T>A (p.Val640Glu)
c.*1834T>A (n.*1834T>A)
n.284T>A
c.*1450T>A (n.*1450T>A)
n.169T>A
c.1853T>A (p.Val618Glu)
c.1790T>A (p.Val597Glu)
n.824T>A
c.1859T>A (p.Val620Glu)
1g.6470565C>ACA338125080PLEKHG5c.1621G>T (p.Val541Leu)
c.1795G>T (p.Val599Leu)
c.1732G>T (p.Val578Leu)
n.2097G>T
c.1828G>T (p.Val610Leu)
c.1918G>T (p.Val640Leu)
c.*1833G>T (n.*1833G>T)
n.283G>T
c.*1449G>T (n.*1449G>T)
n.168G>T
c.1852G>T (p.Val618Leu)
c.1789G>T (p.Val597Leu)
n.823G>T
c.1858G>T (p.Val620Leu)
gnomAD v4
1g.6470565C=CA1144157165PLEKHG5c.1621G= (p.Val541=)
c.1795G= (p.Val599=)
c.1732G= (p.Val578=)
n.2097G=
c.1828G= (p.Val610=)
c.1918G= (p.Val640=)
c.*1833G= (n.*1833G=)
n.283G=
c.*1449G= (n.*1449G=)
n.168G=
c.1852G= (p.Val618=)
c.1789G= (p.Val597=)
n.823G=
c.1858G= (p.Val620=)
1g.6470565C>GCA338125087PLEKHG5c.1621G>C (p.Val541Leu)
c.1795G>C (p.Val599Leu)
c.1732G>C (p.Val578Leu)
n.2097G>C
c.1828G>C (p.Val610Leu)
c.1918G>C (p.Val640Leu)
c.*1833G>C (n.*1833G>C)
n.283G>C
c.*1449G>C (n.*1449G>C)
n.168G>C
c.1852G>C (p.Val618Leu)
c.1789G>C (p.Val597Leu)
n.823G>C
c.1858G>C (p.Val620Leu)
1g.6470565C>TCA561443PLEKHG5c.1621G>A (p.Val541Met)
c.1795G>A (p.Val599Met)
c.1732G>A (p.Val578Met)
n.2097G>A
c.1828G>A (p.Val610Met)
c.1918G>A (p.Val640Met)
c.*1833G>A (n.*1833G>A)
n.283G>A
c.*1449G>A (n.*1449G>A)
n.168G>A
c.1852G>A (p.Val618Met)
c.1789G>A (p.Val597Met)
n.823G>A
c.1858G>A (p.Val620Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470566G>ACA561444PLEKHG5c.1620C>T (p.Ala540=)
c.1794C>T (p.Ala598=)
c.1731C>T (p.Ala577=)
n.2096C>T
c.1827C>T (p.Ala609=)
c.1917C>T (p.Ala639=)
c.*1832C>T (n.*1832C>T)
n.282C>T
c.*1448C>T (n.*1448C>T)
n.167C>T
c.1851C>T (p.Ala617=)
c.1788C>T (p.Ala596=)
n.822C>T
c.1857C>T (p.Ala619=)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
1g.6470566G>CCA416022624PLEKHG5c.1620C>G (p.Ala540=)
c.1794C>G (p.Ala598=)
c.1731C>G (p.Ala577=)
n.2096C>G
c.1827C>G (p.Ala609=)
c.1917C>G (p.Ala639=)
c.*1832C>G (n.*1832C>G)
n.282C>G
c.*1448C>G (n.*1448C>G)
n.167C>G
c.1851C>G (p.Ala617=)
c.1788C>G (p.Ala596=)
n.822C>G
c.1857C>G (p.Ala619=)
dbSNP
1g.6470566G=CA1151524318PLEKHG5c.1620C= (p.Ala540=)
c.1794C= (p.Ala598=)
c.1731C= (p.Ala577=)
n.2096C=
c.1827C= (p.Ala609=)
c.1917C= (p.Ala639=)
c.*1832C= (n.*1832C=)
n.282C=
c.*1448C= (n.*1448C=)
n.167C=
c.1851C= (p.Ala617=)
c.1788C= (p.Ala596=)
n.822C=
c.1857C= (p.Ala619=)
1g.6470566G>TCA416022625PLEKHG5c.1620C>A (p.Ala540=)
c.1794C>A (p.Ala598=)
c.1731C>A (p.Ala577=)
n.2096C>A
c.1827C>A (p.Ala609=)
c.1917C>A (p.Ala639=)
c.*1832C>A (n.*1832C>A)
n.282C>A
c.*1448C>A (n.*1448C>A)
n.167C>A
c.1851C>A (p.Ala617=)
c.1788C>A (p.Ala596=)
n.822C>A
c.1857C>A (p.Ala619=)
gnomAD v4
1g.6470567G>ACA338125137PLEKHG5c.1619C>T (p.Ala540Val)
c.1793C>T (p.Ala598Val)
c.1730C>T (p.Ala577Val)
n.2095C>T
c.1826C>T (p.Ala609Val)
c.1916C>T (p.Ala639Val)
c.*1831C>T (n.*1831C>T)
n.281C>T
c.*1447C>T (n.*1447C>T)
n.166C>T
c.1850C>T (p.Ala617Val)
c.1787C>T (p.Ala596Val)
n.821C>T
c.1856C>T (p.Ala619Val)
gnomAD v4
1g.6470567G>CCA338125139PLEKHG5c.1619C>G (p.Ala540Gly)
c.1793C>G (p.Ala598Gly)
c.1730C>G (p.Ala577Gly)
n.2095C>G
c.1826C>G (p.Ala609Gly)
c.1916C>G (p.Ala639Gly)
c.*1831C>G (n.*1831C>G)
n.281C>G
c.*1447C>G (n.*1447C>G)
n.166C>G
c.1850C>G (p.Ala617Gly)
c.1787C>G (p.Ala596Gly)
n.821C>G
c.1856C>G (p.Ala619Gly)
1g.6470567G>TCA338125138PLEKHG5c.1619C>A (p.Ala540Asp)
c.1793C>A (p.Ala598Asp)
c.1730C>A (p.Ala577Asp)
n.2095C>A
c.1826C>A (p.Ala609Asp)
c.1916C>A (p.Ala639Asp)
c.*1831C>A (n.*1831C>A)
n.281C>A
c.*1447C>A (n.*1447C>A)
n.166C>A
c.1850C>A (p.Ala617Asp)
c.1787C>A (p.Ala596Asp)
n.821C>A
c.1856C>A (p.Ala619Asp)
1g.6470568C>ACA338125142PLEKHG5c.1618G>T (p.Ala540Ser)
c.1792G>T (p.Ala598Ser)
c.1729G>T (p.Ala577Ser)
n.2094G>T
c.1825G>T (p.Ala609Ser)
c.1915G>T (p.Ala639Ser)
c.*1830G>T (n.*1830G>T)
n.280G>T
c.*1446G>T (n.*1446G>T)
n.165G>T
c.1849G>T (p.Ala617Ser)
c.1786G>T (p.Ala596Ser)
n.820G>T
c.1855G>T (p.Ala619Ser)
1g.6470568C>GCA338125144PLEKHG5c.1618G>C (p.Ala540Pro)
c.1792G>C (p.Ala598Pro)
c.1729G>C (p.Ala577Pro)
n.2094G>C
c.1825G>C (p.Ala609Pro)
c.1915G>C (p.Ala639Pro)
c.*1830G>C (n.*1830G>C)
n.280G>C
c.*1446G>C (n.*1446G>C)
n.165G>C
c.1849G>C (p.Ala617Pro)
c.1786G>C (p.Ala596Pro)
n.820G>C
c.1855G>C (p.Ala619Pro)
1g.6470568C>TCA338125145PLEKHG5c.1618G>A (p.Ala540Thr)
c.1792G>A (p.Ala598Thr)
c.1729G>A (p.Ala577Thr)
n.2094G>A
c.1825G>A (p.Ala609Thr)
c.1915G>A (p.Ala639Thr)
c.*1830G>A (n.*1830G>A)
n.280G>A
c.*1446G>A (n.*1446G>A)
n.165G>A
c.1849G>A (p.Ala617Thr)
c.1786G>A (p.Ala596Thr)
n.820G>A
c.1855G>A (p.Ala619Thr)
gnomAD v4
1g.6470569dupCA645511757PLEKHG5c.1618dup (p.Ala540GlyfsTer?)
c.1792dup (p.Ala598GlyfsTer?)
c.1729dup (p.Ala577GlyfsTer?)
n.2094dup
c.1825dup (p.Ala609GlyfsTer?)
c.1915dup (p.Ala639GlyfsTer?)
c.*1830dup (n.*1830dup)
n.280dup
c.*1446dup (n.*1446dup)
n.165dup
c.1849dup (p.Ala617GlyfsTer?)
c.1786dup (p.Ala596GlyfsTer?)
n.820dup
c.1855dup (p.Ala619GlyfsTer?)
COSMIC COSMIC COSMIC
1g.6470569C>ACA561445PLEKHG5c.1617G>T (p.Ala539=)
c.1791G>T (p.Ala597=)
c.1728G>T (p.Ala576=)
n.2093G>T
c.1824G>T (p.Ala608=)
c.1914G>T (p.Ala638=)
c.*1829G>T (n.*1829G>T)
n.279G>T
c.*1445G>T (n.*1445G>T)
n.164G>T
c.1848G>T (p.Ala616=)
c.1785G>T (p.Ala595=)
n.819G>T
c.1854G>T (p.Ala618=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470569C=CA1145660793PLEKHG5c.1617G= (p.Ala539=)
c.1791G= (p.Ala597=)
c.1728G= (p.Ala576=)
n.2093G=
c.1824G= (p.Ala608=)
c.1914G= (p.Ala638=)
c.*1829G= (n.*1829G=)
n.279G=
c.*1445G= (n.*1445G=)
n.164G=
c.1848G= (p.Ala616=)
c.1785G= (p.Ala595=)
n.819G=
c.1854G= (p.Ala618=)
1g.6470569C>GCA416022632PLEKHG5c.1617G>C (p.Ala539=)
c.1791G>C (p.Ala597=)
c.1728G>C (p.Ala576=)
n.2093G>C
c.1824G>C (p.Ala608=)
c.1914G>C (p.Ala638=)
c.*1829G>C (n.*1829G>C)
n.279G>C
c.*1445G>C (n.*1445G>C)
n.164G>C
c.1848G>C (p.Ala616=)
c.1785G>C (p.Ala595=)
n.819G>C
c.1854G>C (p.Ala618=)
ClinVar gnomAD v4
1g.6470569C>TCA561446PLEKHG5c.1617G>A (p.Ala539=)
c.1791G>A (p.Ala597=)
c.1728G>A (p.Ala576=)
n.2093G>A
c.1824G>A (p.Ala608=)
c.1914G>A (p.Ala638=)
c.*1829G>A (n.*1829G>A)
n.279G>A
c.*1445G>A (n.*1445G>A)
n.164G>A
c.1848G>A (p.Ala616=)
c.1785G>A (p.Ala595=)
n.819G>A
c.1854G>A (p.Ala618=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.6470570G>ACA240587PLEKHG5c.1616C>T (p.Ala539Val)
c.1790C>T (p.Ala597Val)
c.1727C>T (p.Ala576Val)
n.2092C>T
c.1823C>T (p.Ala608Val)
c.1913C>T (p.Ala638Val)
c.*1828C>T (n.*1828C>T)
n.278C>T
c.*1444C>T (n.*1444C>T)
n.163C>T
c.1847C>T (p.Ala616Val)
c.1784C>T (p.Ala595Val)
n.818C>T
c.1853C>T (p.Ala618Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470570G>CCA17236699PLEKHG5c.1616C>G (p.Ala539Gly)
c.1790C>G (p.Ala597Gly)
c.1727C>G (p.Ala576Gly)
n.2092C>G
c.1823C>G (p.Ala608Gly)
c.1913C>G (p.Ala638Gly)
c.*1828C>G (n.*1828C>G)
n.278C>G
c.*1444C>G (n.*1444C>G)
n.163C>G
c.1847C>G (p.Ala616Gly)
c.1784C>G (p.Ala595Gly)
n.818C>G
c.1853C>G (p.Ala618Gly)
dbSNP
1g.6470570G=CA1143734312PLEKHG5c.1616C= (p.Ala539=)
c.1790C= (p.Ala597=)
c.1727C= (p.Ala576=)
n.2092C=
c.1823C= (p.Ala608=)
c.1913C= (p.Ala638=)
c.*1828C= (n.*1828C=)
n.278C=
c.*1444C= (n.*1444C=)
n.163C=
c.1847C= (p.Ala616=)
c.1784C= (p.Ala595=)
n.818C=
c.1853C= (p.Ala618=)
1g.6470570G>TCA338125168PLEKHG5c.1616C>A (p.Ala539Glu)
c.1790C>A (p.Ala597Glu)
c.1727C>A (p.Ala576Glu)
n.2092C>A
c.1823C>A (p.Ala608Glu)
c.1913C>A (p.Ala638Glu)
c.*1828C>A (n.*1828C>A)
n.278C>A
c.*1444C>A (n.*1444C>A)
n.163C>A
c.1847C>A (p.Ala616Glu)
c.1784C>A (p.Ala595Glu)
n.818C>A
c.1853C>A (p.Ala618Glu)
gnomAD v4
1g.6470571C>ACA338125172PLEKHG5c.1615G>T (p.Ala539Ser)
c.1789G>T (p.Ala597Ser)
c.1726G>T (p.Ala576Ser)
n.2091G>T
c.1822G>T (p.Ala608Ser)
c.1912G>T (p.Ala638Ser)
c.*1827G>T (n.*1827G>T)
n.277G>T
c.*1443G>T (n.*1443G>T)
n.162G>T
c.1846G>T (p.Ala616Ser)
c.1783G>T (p.Ala595Ser)
n.817G>T
c.1852G>T (p.Ala618Ser)
1g.6470571C=CA1151524334PLEKHG5c.1615G= (p.Ala539=)
c.1789G= (p.Ala597=)
c.1726G= (p.Ala576=)
n.2091G=
c.1822G= (p.Ala608=)
c.1912G= (p.Ala638=)
c.*1827G= (n.*1827G=)
n.277G=
c.*1443G= (n.*1443G=)
n.162G=
c.1846G= (p.Ala616=)
c.1783G= (p.Ala595=)
n.817G=
c.1852G= (p.Ala618=)
1g.6470571C>GCA338125175PLEKHG5c.1615G>C (p.Ala539Pro)
c.1789G>C (p.Ala597Pro)
c.1726G>C (p.Ala576Pro)
n.2091G>C
c.1822G>C (p.Ala608Pro)
c.1912G>C (p.Ala638Pro)
c.*1827G>C (n.*1827G>C)
n.277G>C
c.*1443G>C (n.*1443G>C)
n.162G>C
c.1846G>C (p.Ala616Pro)
c.1783G>C (p.Ala595Pro)
n.817G>C
c.1852G>C (p.Ala618Pro)
1g.6470571C>TCA338125178PLEKHG5c.1615G>A (p.Ala539Thr)
c.1789G>A (p.Ala597Thr)
c.1726G>A (p.Ala576Thr)
n.2091G>A
c.1822G>A (p.Ala608Thr)
c.1912G>A (p.Ala638Thr)
c.*1827G>A (n.*1827G>A)
n.277G>A
c.*1443G>A (n.*1443G>A)
n.162G>A
c.1846G>A (p.Ala616Thr)
c.1783G>A (p.Ala595Thr)
n.817G>A
c.1852G>A (p.Ala618Thr)
dbSNP gnomAD v2
1g.6470572C>ACA561447PLEKHG5c.1614G>T (p.Leu538=)
c.1788G>T (p.Leu596=)
c.1725G>T (p.Leu575=)
n.2090G>T
c.1821G>T (p.Leu607=)
c.1911G>T (p.Leu637=)
c.*1826G>T (n.*1826G>T)
n.276G>T
c.*1442G>T (n.*1442G>T)
n.161G>T
c.1845G>T (p.Leu615=)
c.1782G>T (p.Leu594=)
n.816G>T
c.1851G>T (p.Leu617=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470572C=CA1151524343PLEKHG5c.1614G= (p.Leu538=)
c.1788G= (p.Leu596=)
c.1725G= (p.Leu575=)
n.2090G=
c.1821G= (p.Leu607=)
c.1911G= (p.Leu637=)
c.*1826G= (n.*1826G=)
n.276G=
c.*1442G= (n.*1442G=)
n.161G=
c.1845G= (p.Leu615=)
c.1782G= (p.Leu594=)
n.816G=
c.1851G= (p.Leu617=)
1g.6470572C>GCA416022638PLEKHG5c.1614G>C (p.Leu538=)
c.1788G>C (p.Leu596=)
c.1725G>C (p.Leu575=)
n.2090G>C
c.1821G>C (p.Leu607=)
c.1911G>C (p.Leu637=)
c.*1826G>C (n.*1826G>C)
n.276G>C
c.*1442G>C (n.*1442G>C)
n.161G>C
c.1845G>C (p.Leu615=)
c.1782G>C (p.Leu594=)
n.816G>C
c.1851G>C (p.Leu617=)
1g.6470572C>TCA416022639PLEKHG5c.1614G>A (p.Leu538=)
c.1788G>A (p.Leu596=)
c.1725G>A (p.Leu575=)
n.2090G>A
c.1821G>A (p.Leu607=)
c.1911G>A (p.Leu637=)
c.*1826G>A (n.*1826G>A)
n.276G>A
c.*1442G>A (n.*1442G>A)
n.161G>A
c.1845G>A (p.Leu615=)
c.1782G>A (p.Leu594=)
n.816G>A
c.1851G>A (p.Leu617=)
gnomAD v4
1g.6470572_6470585delinsCAGCCGCTGCCGCTCA1151524347PLEKHG5c.1601_1614delinsAGCGGCAGCGGCTG (p.Glu534=)
c.1775_1788delinsAGCGGCAGCGGCTG (p.Glu592=)
c.1712_1725delinsAGCGGCAGCGGCTG (p.Glu571=)
n.2077_2090delinsAGCGGCAGCGGCTG
c.1808_1821delinsAGCGGCAGCGGCTG (p.Glu603=)
c.1898_1911delinsAGCGGCAGCGGCTG (p.Glu633=)
c.*1813_*1826delinsAGCGGCAGCGGCTG (n.*1813_*1826delinsAGCGGCAGCGGCTG)
n.263_276delinsAGCGGCAGCGGCTG
c.*1429_*1442delinsAGCGGCAGCGGCTG (n.*1429_*1442delinsAGCGGCAGCGGCTG)
n.148_161delinsAGCGGCAGCGGCTG
c.1832_1845delinsAGCGGCAGCGGCTG (p.Glu611=)
c.1769_1782delinsAGCGGCAGCGGCTG (p.Glu590=)
n.803_816delinsAGCGGCAGCGGCTG
c.1838_1851delinsAGCGGCAGCGGCTG (p.Glu613=)
1g.6470573A=CA1151524361PLEKHG5c.1613T= (p.Leu538=)
c.1787T= (p.Leu596=)
c.1724T= (p.Leu575=)
n.2089T=
c.1820T= (p.Leu607=)
c.1910T= (p.Leu637=)
c.*1825T= (n.*1825T=)
n.275T=
c.*1441T= (n.*1441T=)
n.160T=
c.1844T= (p.Leu615=)
c.1781T= (p.Leu594=)
n.815T=
c.1850T= (p.Leu617=)
1g.6470573A>CCA338125244PLEKHG5c.1613T>G (p.Leu538Arg)
c.1787T>G (p.Leu596Arg)
c.1724T>G (p.Leu575Arg)
n.2089T>G
c.1820T>G (p.Leu607Arg)
c.1910T>G (p.Leu637Arg)
c.*1825T>G (n.*1825T>G)
n.275T>G
c.*1441T>G (n.*1441T>G)
n.160T>G
c.1844T>G (p.Leu615Arg)
c.1781T>G (p.Leu594Arg)
n.815T>G
c.1850T>G (p.Leu617Arg)
1g.6470573A>GCA561448PLEKHG5c.1613T>C (p.Leu538Pro)
c.1787T>C (p.Leu596Pro)
c.1724T>C (p.Leu575Pro)
n.2089T>C
c.1820T>C (p.Leu607Pro)
c.1910T>C (p.Leu637Pro)
c.*1825T>C (n.*1825T>C)
n.275T>C
c.*1441T>C (n.*1441T>C)
n.160T>C
c.1844T>C (p.Leu615Pro)
c.1781T>C (p.Leu594Pro)
n.815T>C
c.1850T>C (p.Leu617Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.6470573A>TCA338125225PLEKHG5c.1613T>A (p.Leu538Gln)
c.1787T>A (p.Leu596Gln)
c.1724T>A (p.Leu575Gln)
n.2089T>A
c.1820T>A (p.Leu607Gln)
c.1910T>A (p.Leu637Gln)
c.*1825T>A (n.*1825T>A)
n.275T>A
c.*1441T>A (n.*1441T>A)
n.160T>A
c.1844T>A (p.Leu615Gln)
c.1781T>A (p.Leu594Gln)
n.815T>A
c.1850T>A (p.Leu617Gln)
gnomAD v4
1g.6470573_6470585delCA17236701PLEKHG5c.1601_1613del (p.Glu534GlyfsTer5)
c.1775_1787del (p.Glu592GlyfsTer5)
c.1712_1724del (p.Glu571GlyfsTer5)
n.2077_2089del
c.1808_1820del (p.Glu603GlyfsTer5)
c.1898_1910del (p.Glu633GlyfsTer5)
c.*1813_*1825del (n.*1813_*1825del)
n.263_275del
c.*1429_*1441del (n.*1429_*1441del)
n.148_160del
c.1832_1844del (p.Glu611GlyfsTer5)
c.1769_1781del (p.Glu590GlyfsTer5)
n.803_815del
c.1838_1850del (p.Glu613GlyfsTer5)
dbSNP
1g.6470573_6470588delinsAGCCGCTGCCGCTCCTCA1151524364PLEKHG5c.1598_1613delinsAGGAGCGGCAGCGGCT (p.Gln533=)
c.1772_1787delinsAGGAGCGGCAGCGGCT (p.Gln591=)
c.1709_1724delinsAGGAGCGGCAGCGGCT (p.Gln570=)
n.2074_2089delinsAGGAGCGGCAGCGGCT
c.1805_1820delinsAGGAGCGGCAGCGGCT (p.Gln602=)
c.1895_1910delinsAGGAGCGGCAGCGGCT (p.Gln632=)
c.*1810_*1825delinsAGGAGCGGCAGCGGCT (n.*1810_*1825delinsAGGAGCGGCAGCGGCT)
n.260_275delinsAGGAGCGGCAGCGGCT
c.*1426_*1441delinsAGGAGCGGCAGCGGCT (n.*1426_*1441delinsAGGAGCGGCAGCGGCT)
n.145_160delinsAGGAGCGGCAGCGGCT
c.1829_1844delinsAGGAGCGGCAGCGGCT (p.Gln610=)
c.1766_1781delinsAGGAGCGGCAGCGGCT (p.Gln589=)
n.800_815delinsAGGAGCGGCAGCGGCT
c.1835_1850delinsAGGAGCGGCAGCGGCT (p.Gln612=)
1g.6470574G>ACA416022641PLEKHG5c.1612C>T (p.Leu538=)
c.1786C>T (p.Leu596=)
c.1723C>T (p.Leu575=)
n.2088C>T
c.1819C>T (p.Leu607=)
c.1909C>T (p.Leu637=)
c.*1824C>T (n.*1824C>T)
n.274C>T
c.*1440C>T (n.*1440C>T)
n.159C>T
c.1843C>T (p.Leu615=)
c.1780C>T (p.Leu594=)
n.814C>T
c.1849C>T (p.Leu617=)
gnomAD v4
1g.6470574G>CCA338125253PLEKHG5c.1612C>G (p.Leu538Val)
c.1786C>G (p.Leu596Val)
c.1723C>G (p.Leu575Val)
n.2088C>G
c.1819C>G (p.Leu607Val)
c.1909C>G (p.Leu637Val)
c.*1824C>G (n.*1824C>G)
n.274C>G
c.*1440C>G (n.*1440C>G)
n.159C>G
c.1843C>G (p.Leu615Val)
c.1780C>G (p.Leu594Val)
n.814C>G
c.1849C>G (p.Leu617Val)
1g.6470574G>TCA338125255PLEKHG5c.1612C>A (p.Leu538Met)
c.1786C>A (p.Leu596Met)
c.1723C>A (p.Leu575Met)
n.2088C>A
c.1819C>A (p.Leu607Met)
c.1909C>A (p.Leu637Met)
c.*1824C>A (n.*1824C>A)
n.274C>A
c.*1440C>A (n.*1440C>A)
n.159C>A
c.1843C>A (p.Leu615Met)
c.1780C>A (p.Leu594Met)
n.814C>A
c.1849C>A (p.Leu617Met)
gnomAD v4
1g.6470580_6470585dupCA2642977021PLEKHG5c.1607_1612dup (p.Arg537_Leu538insGlnArg)
c.1781_1786dup (p.Arg595_Leu596insGlnArg)
c.1718_1723dup (p.Arg574_Leu575insGlnArg)
n.2083_2088dup
c.1814_1819dup (p.Arg606_Leu607insGlnArg)
c.1904_1909dup (p.Arg636_Leu637insGlnArg)
c.*1819_*1824dup (n.*1819_*1824dup)
n.269_274dup
c.*1435_*1440dup (n.*1435_*1440dup)
n.154_159dup
c.1838_1843dup (p.Arg614_Leu615insGlnArg)
c.1775_1780dup (p.Arg593_Leu594insGlnArg)
n.809_814dup
c.1844_1849dup (p.Arg616_Leu617insGlnArg)
gnomAD v4
1g.6470574_6470586delCA338125259PLEKHG5c.1600_1612del (p.Glu534TrpfsTer5)
c.1774_1786del (p.Glu592TrpfsTer5)
c.1711_1723del (p.Glu571TrpfsTer5)
n.2076_2088del
c.1807_1819del (p.Glu603TrpfsTer5)
c.1897_1909del (p.Glu633TrpfsTer5)
c.*1812_*1824del (n.*1812_*1824del)
n.262_274del
c.*1428_*1440del (n.*1428_*1440del)
n.147_159del
c.1831_1843del (p.Glu611TrpfsTer5)
c.1768_1780del (p.Glu590TrpfsTer5)
n.802_814del
c.1837_1849del (p.Glu613TrpfsTer5)
1g.6470585_6470599dupCA521018787PLEKHG5c.1598_1612dup (p.Arg537_Leu538insGlnGluArgGlnArg)
c.1772_1786dup (p.Arg595_Leu596insGlnGluArgGlnArg)
c.1709_1723dup (p.Arg574_Leu575insGlnGluArgGlnArg)
n.2074_2088dup
c.1805_1819dup (p.Arg606_Leu607insGlnGluArgGlnArg)
c.1895_1909dup (p.Arg636_Leu637insGlnGluArgGlnArg)
c.*1810_*1824dup (n.*1810_*1824dup)
n.260_274dup
c.*1426_*1440dup (n.*1426_*1440dup)
n.145_159dup
c.1829_1843dup (p.Arg614_Leu615insGlnGluArgGlnArg)
c.1766_1780dup (p.Arg593_Leu594insGlnGluArgGlnArg)
n.800_814dup
c.1835_1849dup (p.Arg616_Leu617insGlnGluArgGlnArg)
dbSNP gnomAD v2 gnomAD v4
1g.6470585_6470599delCA913189288PLEKHG5c.1598_1612del (p.Gln533_Arg537del)
c.1772_1786del (p.Gln591_Arg595del)
c.1709_1723del (p.Gln570_Arg574del)
n.2074_2088del
c.1805_1819del (p.Gln602_Arg606del)
c.1895_1909del (p.Gln632_Arg636del)
c.*1810_*1824del (n.*1810_*1824del)
n.260_274del
c.*1426_*1440del (n.*1426_*1440del)
n.145_159del
c.1829_1843del (p.Gln610_Arg614del)
c.1766_1780del (p.Gln589_Arg593del)
n.800_814del
c.1835_1849del (p.Gln612_Arg616del)
ClinVar dbSNP gnomAD v4
1g.6470575C>ACA416022647PLEKHG5c.1611G>T (p.Arg537=)
c.1785G>T (p.Arg595=)
c.1722G>T (p.Arg574=)
n.2087G>T
c.1818G>T (p.Arg606=)
c.1908G>T (p.Arg636=)
c.*1823G>T (n.*1823G>T)
n.273G>T
c.*1439G>T (n.*1439G>T)
n.158G>T
c.1842G>T (p.Arg614=)
c.1779G>T (p.Arg593=)
n.813G>T
c.1848G>T (p.Arg616=)
1g.6470575C=CA1151524377PLEKHG5c.1611G= (p.Arg537=)
c.1785G= (p.Arg595=)
c.1722G= (p.Arg574=)
n.2087G=
c.1818G= (p.Arg606=)
c.1908G= (p.Arg636=)
c.*1823G= (n.*1823G=)
n.273G=
c.*1439G= (n.*1439G=)
n.158G=
c.1842G= (p.Arg614=)
c.1779G= (p.Arg593=)
n.813G=
c.1848G= (p.Arg616=)
1g.6470575C>GCA416022648PLEKHG5c.1611G>C (p.Arg537=)
c.1785G>C (p.Arg595=)
c.1722G>C (p.Arg574=)
n.2087G>C
c.1818G>C (p.Arg606=)
c.1908G>C (p.Arg636=)
c.*1823G>C (n.*1823G>C)
n.273G>C
c.*1439G>C (n.*1439G>C)
n.158G>C
c.1842G>C (p.Arg614=)
c.1779G>C (p.Arg593=)
n.813G>C
c.1848G>C (p.Arg616=)
1g.6470575C>TCA416022649PLEKHG5c.1611G>A (p.Arg537=)
c.1785G>A (p.Arg595=)
c.1722G>A (p.Arg574=)
n.2087G>A
c.1818G>A (p.Arg606=)
c.1908G>A (p.Arg636=)
c.*1823G>A (n.*1823G>A)
n.273G>A
c.*1439G>A (n.*1439G>A)
n.158G>A
c.1842G>A (p.Arg614=)
c.1779G>A (p.Arg593=)
n.813G>A
c.1848G>A (p.Arg616=)
dbSNP gnomAD v2 gnomAD v4
1g.6470576C>ACA338125285PLEKHG5c.1610G>T (p.Arg537Leu)
c.1784G>T (p.Arg595Leu)
c.1721G>T (p.Arg574Leu)
n.2086G>T
c.1817G>T (p.Arg606Leu)
c.1907G>T (p.Arg636Leu)
c.*1822G>T (n.*1822G>T)
n.272G>T
c.*1438G>T (n.*1438G>T)
n.157G>T
c.1841G>T (p.Arg614Leu)
c.1778G>T (p.Arg593Leu)
n.812G>T
c.1847G>T (p.Arg616Leu)
1g.6470576C=CA1151524381PLEKHG5c.1610G= (p.Arg537=)
c.1784G= (p.Arg595=)
c.1721G= (p.Arg574=)
n.2086G=
c.1817G= (p.Arg606=)
c.1907G= (p.Arg636=)
c.*1822G= (n.*1822G=)
n.272G=
c.*1438G= (n.*1438G=)
n.157G=
c.1841G= (p.Arg614=)
c.1778G= (p.Arg593=)
n.812G=
c.1847G= (p.Arg616=)
1g.6470576C>GCA338125267PLEKHG5c.1610G>C (p.Arg537Pro)
c.1784G>C (p.Arg595Pro)
c.1721G>C (p.Arg574Pro)
n.2086G>C
c.1817G>C (p.Arg606Pro)
c.1907G>C (p.Arg636Pro)
c.*1822G>C (n.*1822G>C)
n.272G>C
c.*1438G>C (n.*1438G>C)
n.157G>C
c.1841G>C (p.Arg614Pro)
c.1778G>C (p.Arg593Pro)
n.812G>C
c.1847G>C (p.Arg616Pro)
gnomAD v4
1g.6470576C>TCA338125264PLEKHG5c.1610G>A (p.Arg537Gln)
c.1784G>A (p.Arg595Gln)
c.1721G>A (p.Arg574Gln)
n.2086G>A
c.1817G>A (p.Arg606Gln)
c.1907G>A (p.Arg636Gln)
c.*1822G>A (n.*1822G>A)
n.272G>A
c.*1438G>A (n.*1438G>A)
n.157G>A
c.1841G>A (p.Arg614Gln)
c.1778G>A (p.Arg593Gln)
n.812G>A
c.1847G>A (p.Arg616Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.6470577G>ACA338125303PLEKHG5c.1609C>T (p.Arg537Trp)
c.1783C>T (p.Arg595Trp)
c.1720C>T (p.Arg574Trp)
n.2085C>T
c.1816C>T (p.Arg606Trp)
c.1906C>T (p.Arg636Trp)
c.*1821C>T (n.*1821C>T)
n.271C>T
c.*1437C>T (n.*1437C>T)
n.156C>T
c.1840C>T (p.Arg614Trp)
c.1777C>T (p.Arg593Trp)
n.811C>T
c.1846C>T (p.Arg616Trp)
gnomAD v4
1g.6470577G>CCA338125307PLEKHG5c.1609C>G (p.Arg537Gly)
c.1783C>G (p.Arg595Gly)
c.1720C>G (p.Arg574Gly)
n.2085C>G
c.1816C>G (p.Arg606Gly)
c.1906C>G (p.Arg636Gly)
c.*1821C>G (n.*1821C>G)
n.271C>G
c.*1437C>G (n.*1437C>G)
n.156C>G
c.1840C>G (p.Arg614Gly)
c.1777C>G (p.Arg593Gly)
n.811C>G
c.1846C>G (p.Arg616Gly)
dbSNP
1g.6470577G=CA1151524404PLEKHG5c.1609C= (p.Arg537=)
c.1783C= (p.Arg595=)
c.1720C= (p.Arg574=)
n.2085C=
c.1816C= (p.Arg606=)
c.1906C= (p.Arg636=)
c.*1821C= (n.*1821C=)
n.271C=
c.*1437C= (n.*1437C=)
n.156C=
c.1840C= (p.Arg614=)
c.1777C= (p.Arg593=)
n.811C=
c.1846C= (p.Arg616=)
1g.6470577G>TCA416022650PLEKHG5c.1609C>A (p.Arg537=)
c.1783C>A (p.Arg595=)
c.1720C>A (p.Arg574=)
n.2085C>A
c.1816C>A (p.Arg606=)
c.1906C>A (p.Arg636=)
c.*1821C>A (n.*1821C>A)
n.271C>A
c.*1437C>A (n.*1437C>A)
n.156C>A
c.1840C>A (p.Arg614=)
c.1777C>A (p.Arg593=)
n.811C>A
c.1846C>A (p.Arg616=)
gnomAD v4
1g.6470577_6470586delinsGCTGCCGCTCCA1151524391PLEKHG5c.1600_1609delinsGAGCGGCAGC (p.Glu534=)
c.1774_1783delinsGAGCGGCAGC (p.Glu592=)
c.1711_1720delinsGAGCGGCAGC (p.Glu571=)
n.2076_2085delinsGAGCGGCAGC
c.1807_1816delinsGAGCGGCAGC (p.Glu603=)
c.1897_1906delinsGAGCGGCAGC (p.Glu633=)
c.*1812_*1821delinsGAGCGGCAGC (n.*1812_*1821delinsGAGCGGCAGC)
n.262_271delinsGAGCGGCAGC
c.*1428_*1437delinsGAGCGGCAGC (n.*1428_*1437delinsGAGCGGCAGC)
n.147_156delinsGAGCGGCAGC
c.1831_1840delinsGAGCGGCAGC (p.Glu611=)
c.1768_1777delinsGAGCGGCAGC (p.Glu590=)
n.802_811delinsGAGCGGCAGC
c.1837_1846delinsGAGCGGCAGC (p.Glu613=)
1g.6470578C>ACA338125314PLEKHG5c.1608G>T (p.Gln536His)
c.1782G>T (p.Gln594His)
c.1719G>T (p.Gln573His)
n.2084G>T
c.1815G>T (p.Gln605His)
c.1905G>T (p.Gln635His)
c.*1820G>T (n.*1820G>T)
n.270G>T
c.*1436G>T (n.*1436G>T)
n.155G>T
c.1839G>T (p.Gln613His)
c.1776G>T (p.Gln592His)
n.810G>T
c.1845G>T (p.Gln615His)
1g.6470578C>GCA338125316PLEKHG5c.1608G>C (p.Gln536His)
c.1782G>C (p.Gln594His)
c.1719G>C (p.Gln573His)
n.2084G>C
c.1815G>C (p.Gln605His)
c.1905G>C (p.Gln635His)
c.*1820G>C (n.*1820G>C)
n.270G>C
c.*1436G>C (n.*1436G>C)
n.155G>C
c.1839G>C (p.Gln613His)
c.1776G>C (p.Gln592His)
n.810G>C
c.1845G>C (p.Gln615His)
1g.6470578C>TCA416022653PLEKHG5c.1608G>A (p.Gln536=)
c.1782G>A (p.Gln594=)
c.1719G>A (p.Gln573=)
n.2084G>A
c.1815G>A (p.Gln605=)
c.1905G>A (p.Gln635=)
c.*1820G>A (n.*1820G>A)
n.270G>A
c.*1436G>A (n.*1436G>A)
n.155G>A
c.1839G>A (p.Gln613=)
c.1776G>A (p.Gln592=)
n.810G>A
c.1845G>A (p.Gln615=)
1g.6470586_6470594dupCA1151524426PLEKHG5c.1600_1608dup (p.Gln536_Arg537insGluArgGln)
c.1774_1782dup (p.Gln594_Arg595insGluArgGln)
c.1711_1719dup (p.Gln573_Arg574insGluArgGln)
n.2076_2084dup
c.1807_1815dup (p.Gln605_Arg606insGluArgGln)
c.1897_1905dup (p.Gln635_Arg636insGluArgGln)
c.*1812_*1820dup (n.*1812_*1820dup)
n.262_270dup
c.*1428_*1436dup (n.*1428_*1436dup)
n.147_155dup
c.1831_1839dup (p.Gln613_Arg614insGluArgGln)
c.1768_1776dup (p.Gln592_Arg593insGluArgGln)
n.802_810dup
c.1837_1845dup (p.Gln615_Arg616insGluArgGln)
dbSNP gnomAD v4
1g.6470586_6470594delCA17236709PLEKHG5c.1600_1608del (p.Glu534_Gln536del)
c.1774_1782del (p.Glu592_Gln594del)
c.1711_1719del (p.Glu571_Gln573del)
n.2076_2084del
c.1807_1815del (p.Glu603_Gln605del)
c.1897_1905del (p.Glu633_Gln635del)
c.*1812_*1820del (n.*1812_*1820del)
n.262_270del
c.*1428_*1436del (n.*1428_*1436del)
n.147_155del
c.1831_1839del (p.Glu611_Gln613del)
c.1768_1776del (p.Glu590_Gln592del)
n.802_810del
c.1837_1845del (p.Glu613_Gln615del)
dbSNP gnomAD v3 gnomAD v4
1g.6470579T>ACA338125317PLEKHG5c.1607A>T (p.Gln536Leu)
c.1781A>T (p.Gln594Leu)
c.1718A>T (p.Gln573Leu)
n.2083A>T
c.1814A>T (p.Gln605Leu)
c.1904A>T (p.Gln635Leu)
c.*1819A>T (n.*1819A>T)
n.269A>T
c.*1435A>T (n.*1435A>T)
n.154A>T
c.1838A>T (p.Gln613Leu)
c.1775A>T (p.Gln592Leu)
n.809A>T
c.1844A>T (p.Gln615Leu)
1g.6470579T>CCA338125320PLEKHG5c.1607A>G (p.Gln536Arg)
c.1781A>G (p.Gln594Arg)
c.1718A>G (p.Gln573Arg)
n.2083A>G
c.1814A>G (p.Gln605Arg)
c.1904A>G (p.Gln635Arg)
c.*1819A>G (n.*1819A>G)
n.269A>G
c.*1435A>G (n.*1435A>G)
n.154A>G
c.1838A>G (p.Gln613Arg)
c.1775A>G (p.Gln592Arg)
n.809A>G
c.1844A>G (p.Gln615Arg)
1g.6470579T>GCA338125327PLEKHG5c.1607A>C (p.Gln536Pro)
c.1781A>C (p.Gln594Pro)
c.1718A>C (p.Gln573Pro)
n.2083A>C
c.1814A>C (p.Gln605Pro)
c.1904A>C (p.Gln635Pro)
c.*1819A>C (n.*1819A>C)
n.269A>C
c.*1435A>C (n.*1435A>C)
n.154A>C
c.1838A>C (p.Gln613Pro)
c.1775A>C (p.Gln592Pro)
n.809A>C
c.1844A>C (p.Gln615Pro)
dbSNP
1g.6470579T=CA1151524433PLEKHG5c.1607A= (p.Gln536=)
c.1781A= (p.Gln594=)
c.1718A= (p.Gln573=)
n.2083A=
c.1814A= (p.Gln605=)
c.1904A= (p.Gln635=)
c.*1819A= (n.*1819A=)
n.269A=
c.*1435A= (n.*1435A=)
n.154A=
c.1838A= (p.Gln613=)
c.1775A= (p.Gln592=)
n.809A=
c.1844A= (p.Gln615=)
1g.6470580G>ACA338125336PLEKHG5c.1606C>T (p.Gln536Ter)
c.1780C>T (p.Gln594Ter)
c.1717C>T (p.Gln573Ter)
n.2082C>T
c.1813C>T (p.Gln605Ter)
c.1903C>T (p.Gln635Ter)
c.*1818C>T (n.*1818C>T)
n.268C>T
c.*1434C>T (n.*1434C>T)
n.153C>T
c.1837C>T (p.Gln613Ter)
c.1774C>T (p.Gln592Ter)
n.808C>T
c.1843C>T (p.Gln615Ter)
1g.6470580G>CCA338125345PLEKHG5c.1606C>G (p.Gln536Glu)
c.1780C>G (p.Gln594Glu)
c.1717C>G (p.Gln573Glu)
n.2082C>G
c.1813C>G (p.Gln605Glu)
c.1903C>G (p.Gln635Glu)
c.*1818C>G (n.*1818C>G)
n.268C>G
c.*1434C>G (n.*1434C>G)
n.153C>G
c.1837C>G (p.Gln613Glu)
c.1774C>G (p.Gln592Glu)
n.808C>G
c.1843C>G (p.Gln615Glu)
1g.6470580G>TCA338125342PLEKHG5c.1606C>A (p.Gln536Lys)
c.1780C>A (p.Gln594Lys)
c.1717C>A (p.Gln573Lys)
n.2082C>A
c.1813C>A (p.Gln605Lys)
c.1903C>A (p.Gln635Lys)
c.*1818C>A (n.*1818C>A)
n.268C>A
c.*1434C>A (n.*1434C>A)
n.153C>A
c.1837C>A (p.Gln613Lys)
c.1774C>A (p.Gln592Lys)
n.808C>A
c.1843C>A (p.Gln615Lys)
gnomAD v4
1g.6470581C>ACA416022665PLEKHG5c.1605G>T (p.Arg535=)
c.1779G>T (p.Arg593=)
c.1716G>T (p.Arg572=)
n.2081G>T
c.1812G>T (p.Arg604=)
c.1902G>T (p.Arg634=)
c.*1817G>T (n.*1817G>T)
n.267G>T
c.*1433G>T (n.*1433G>T)
n.152G>T
c.1836G>T (p.Arg612=)
c.1773G>T (p.Arg591=)
n.807G>T
c.1842G>T (p.Arg614=)
1g.6470581C=CA1151524439PLEKHG5c.1605G= (p.Arg535=)
c.1779G= (p.Arg593=)
c.1716G= (p.Arg572=)
n.2081G=
c.1812G= (p.Arg604=)
c.1902G= (p.Arg634=)
c.*1817G= (n.*1817G=)
n.267G=
c.*1433G= (n.*1433G=)
n.152G=
c.1836G= (p.Arg612=)
c.1773G= (p.Arg591=)
n.807G=
c.1842G= (p.Arg614=)
1g.6470581C>GCA416022667PLEKHG5c.1605G>C (p.Arg535=)
c.1779G>C (p.Arg593=)
c.1716G>C (p.Arg572=)
n.2081G>C
c.1812G>C (p.Arg604=)
c.1902G>C (p.Arg634=)
c.*1817G>C (n.*1817G>C)
n.267G>C
c.*1433G>C (n.*1433G>C)
n.152G>C
c.1836G>C (p.Arg612=)
c.1773G>C (p.Arg591=)
n.807G>C
c.1842G>C (p.Arg614=)
1g.6470581C>TCA416022668PLEKHG5c.1605G>A (p.Arg535=)
c.1779G>A (p.Arg593=)
c.1716G>A (p.Arg572=)
n.2081G>A
c.1812G>A (p.Arg604=)
c.1902G>A (p.Arg634=)
c.*1817G>A (n.*1817G>A)
n.267G>A
c.*1433G>A (n.*1433G>A)
n.152G>A
c.1836G>A (p.Arg612=)
c.1773G>A (p.Arg591=)
n.807G>A
c.1842G>A (p.Arg614=)
dbSNP gnomAD v2 gnomAD v4
1g.6470582C>ACA338125350PLEKHG5c.1604G>T (p.Arg535Leu)
c.1778G>T (p.Arg593Leu)
c.1715G>T (p.Arg572Leu)
n.2080G>T
c.1811G>T (p.Arg604Leu)
c.1901G>T (p.Arg634Leu)
c.*1816G>T (n.*1816G>T)
n.266G>T
c.*1432G>T (n.*1432G>T)
n.151G>T
c.1835G>T (p.Arg612Leu)
c.1772G>T (p.Arg591Leu)
n.806G>T
c.1841G>T (p.Arg614Leu)
1g.6470582C=CA1151524444PLEKHG5c.1604G= (p.Arg535=)
c.1778G= (p.Arg593=)
c.1715G= (p.Arg572=)
n.2080G=
c.1811G= (p.Arg604=)
c.1901G= (p.Arg634=)
c.*1816G= (n.*1816G=)
n.266G=
c.*1432G= (n.*1432G=)
n.151G=
c.1835G= (p.Arg612=)
c.1772G= (p.Arg591=)
n.806G=
c.1841G= (p.Arg614=)
1g.6470582C>GCA338125365PLEKHG5c.1604G>C (p.Arg535Pro)
c.1778G>C (p.Arg593Pro)
c.1715G>C (p.Arg572Pro)
n.2080G>C
c.1811G>C (p.Arg604Pro)
c.1901G>C (p.Arg634Pro)
c.*1816G>C (n.*1816G>C)
n.266G>C
c.*1432G>C (n.*1432G>C)
n.151G>C
c.1835G>C (p.Arg612Pro)
c.1772G>C (p.Arg591Pro)
n.806G>C
c.1841G>C (p.Arg614Pro)
1g.6470582C>TCA561449PLEKHG5c.1604G>A (p.Arg535Gln)
c.1778G>A (p.Arg593Gln)
c.1715G>A (p.Arg572Gln)
n.2080G>A
c.1811G>A (p.Arg604Gln)
c.1901G>A (p.Arg634Gln)
c.*1816G>A (n.*1816G>A)
n.266G>A
c.*1432G>A (n.*1432G>A)
n.151G>A
c.1835G>A (p.Arg612Gln)
c.1772G>A (p.Arg591Gln)
n.806G>A
c.1841G>A (p.Arg614Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470582_6470585delinsCGCTCA1151524445PLEKHG5c.1601_1604delinsAGCG (p.Glu534=)
c.1775_1778delinsAGCG (p.Glu592=)
c.1712_1715delinsAGCG (p.Glu571=)
n.2077_2080delinsAGCG
c.1808_1811delinsAGCG (p.Glu603=)
c.1898_1901delinsAGCG (p.Glu633=)
c.*1813_*1816delinsAGCG (n.*1813_*1816delinsAGCG)
n.263_266delinsAGCG
c.*1429_*1432delinsAGCG (n.*1429_*1432delinsAGCG)
n.148_151delinsAGCG
c.1832_1835delinsAGCG (p.Glu611=)
c.1769_1772delinsAGCG (p.Glu590=)
n.803_806delinsAGCG
c.1838_1841delinsAGCG (p.Glu613=)
1g.6470583G>ACA17236726PLEKHG5c.1603C>T (p.Arg535Trp)
c.1777C>T (p.Arg593Trp)
c.1714C>T (p.Arg572Trp)
n.2079C>T
c.1810C>T (p.Arg604Trp)
c.1900C>T (p.Arg634Trp)
c.*1815C>T (n.*1815C>T)
n.265C>T
c.*1431C>T (n.*1431C>T)
n.150C>T
c.1834C>T (p.Arg612Trp)
c.1771C>T (p.Arg591Trp)
n.805C>T
c.1840C>T (p.Arg614Trp)
dbSNP gnomAD v2 gnomAD v4
1g.6470583G>CCA17236734PLEKHG5c.1603C>G (p.Arg535Gly)
c.1777C>G (p.Arg593Gly)
c.1714C>G (p.Arg572Gly)
n.2079C>G
c.1810C>G (p.Arg604Gly)
c.1900C>G (p.Arg634Gly)
c.*1815C>G (n.*1815C>G)
n.265C>G
c.*1431C>G (n.*1431C>G)
n.150C>G
c.1834C>G (p.Arg612Gly)
c.1771C>G (p.Arg591Gly)
n.805C>G
c.1840C>G (p.Arg614Gly)
dbSNP gnomAD v4
1g.6470583G=CA1143512045PLEKHG5c.1603C= (p.Arg535=)
c.1777C= (p.Arg593=)
c.1714C= (p.Arg572=)
n.2079C=
c.1810C= (p.Arg604=)
c.1900C= (p.Arg634=)
c.*1815C= (n.*1815C=)
n.265C=
c.*1431C= (n.*1431C=)
n.150C=
c.1834C= (p.Arg612=)
c.1771C= (p.Arg591=)
n.805C=
c.1840C= (p.Arg614=)
1g.6470583G>TCA416022670PLEKHG5c.1603C>A (p.Arg535=)
c.1777C>A (p.Arg593=)
c.1714C>A (p.Arg572=)
n.2079C>A
c.1810C>A (p.Arg604=)
c.1900C>A (p.Arg634=)
c.*1815C>A (n.*1815C>A)
n.265C>A
c.*1431C>A (n.*1431C>A)
n.150C>A
c.1834C>A (p.Arg612=)
c.1771C>A (p.Arg591=)
n.805C>A
c.1840C>A (p.Arg614=)
gnomAD v4
1g.6470583_6470585delCA17236717PLEKHG5c.1601_1603del (p.Glu534_Arg535delinsGly)
c.1775_1777del (p.Glu592_Arg593delinsGly)
c.1712_1714del (p.Glu571_Arg572delinsGly)
n.2077_2079del
c.1808_1810del (p.Glu603_Arg604delinsGly)
c.1898_1900del (p.Glu633_Arg634delinsGly)
c.*1813_*1815del (n.*1813_*1815del)
n.263_265del
c.*1429_*1431del (n.*1429_*1431del)
n.148_150del
c.1832_1834del (p.Glu611_Arg612delinsGly)
c.1769_1771del (p.Glu590_Arg591delinsGly)
n.803_805del
c.1838_1840del (p.Glu613_Arg614delinsGly)
dbSNP
1g.6470584C>ACA561450PLEKHG5c.1602G>T (p.Glu534Asp)
c.1776G>T (p.Glu592Asp)
c.1713G>T (p.Glu571Asp)
n.2078G>T
c.1809G>T (p.Glu603Asp)
c.1899G>T (p.Glu633Asp)
c.*1814G>T (n.*1814G>T)
n.264G>T
c.*1430G>T (n.*1430G>T)
n.149G>T
c.1833G>T (p.Glu611Asp)
c.1770G>T (p.Glu590Asp)
n.804G>T
c.1839G>T (p.Glu613Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.6470584C=CA1151524460PLEKHG5c.1602G= (p.Glu534=)
c.1776G= (p.Glu592=)
c.1713G= (p.Glu571=)
n.2078G=
c.1809G= (p.Glu603=)
c.1899G= (p.Glu633=)
c.*1814G= (n.*1814G=)
n.264G=
c.*1430G= (n.*1430G=)
n.149G=
c.1833G= (p.Glu611=)
c.1770G= (p.Glu590=)
n.804G=
c.1839G= (p.Glu613=)
1g.6470584C>GCA338125391PLEKHG5c.1602G>C (p.Glu534Asp)
c.1776G>C (p.Glu592Asp)
c.1713G>C (p.Glu571Asp)
n.2078G>C
c.1809G>C (p.Glu603Asp)
c.1899G>C (p.Glu633Asp)
c.*1814G>C (n.*1814G>C)
n.264G>C
c.*1430G>C (n.*1430G>C)
n.149G>C
c.1833G>C (p.Glu611Asp)
c.1770G>C (p.Glu590Asp)
n.804G>C
c.1839G>C (p.Glu613Asp)
1g.6470584C>TCA416022675PLEKHG5c.1602G>A (p.Glu534=)
c.1776G>A (p.Glu592=)
c.1713G>A (p.Glu571=)
n.2078G>A
c.1809G>A (p.Glu603=)
c.1899G>A (p.Glu633=)
c.*1814G>A (n.*1814G>A)
n.264G>A
c.*1430G>A (n.*1430G>A)
n.149G>A
c.1833G>A (p.Glu611=)
c.1770G>A (p.Glu590=)
n.804G>A
c.1839G>A (p.Glu613=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6470586_6470588delCA338125397PLEKHG5c.1600_1602del (p.Glu534del)
c.1774_1776del (p.Glu592del)
c.1711_1713del (p.Glu571del)
n.2076_2078del
c.1807_1809del (p.Glu603del)
c.1897_1899del (p.Glu633del)
c.*1812_*1814del (n.*1812_*1814del)
n.262_264del
c.*1428_*1430del (n.*1428_*1430del)
n.147_149del
c.1831_1833del (p.Glu611del)
c.1768_1770del (p.Glu590del)
n.802_804del
c.1837_1839del (p.Glu613del)
1g.6470585T>ACA338125402PLEKHG5c.1601A>T (p.Glu534Val)
c.1775A>T (p.Glu592Val)
c.1712A>T (p.Glu571Val)
n.2077A>T
c.1808A>T (p.Glu603Val)
c.1898A>T (p.Glu633Val)
c.*1813A>T (n.*1813A>T)
n.263A>T
c.*1429A>T (n.*1429A>T)
n.148A>T
c.1832A>T (p.Glu611Val)
c.1769A>T (p.Glu590Val)
n.803A>T
c.1838A>T (p.Glu613Val)
1g.6470585T>CCA17236757PLEKHG5c.1601A>G (p.Glu534Gly)
c.1775A>G (p.Glu592Gly)
c.1712A>G (p.Glu571Gly)
n.2077A>G
c.1808A>G (p.Glu603Gly)
c.1898A>G (p.Glu633Gly)
c.*1813A>G (n.*1813A>G)
n.263A>G
c.*1429A>G (n.*1429A>G)
n.148A>G
c.1832A>G (p.Glu611Gly)
c.1769A>G (p.Glu590Gly)
n.803A>G
c.1838A>G (p.Glu613Gly)
dbSNP gnomAD v2 gnomAD v4
1g.6470585T>GCA338125405PLEKHG5c.1601A>C (p.Glu534Ala)
c.1775A>C (p.Glu592Ala)
c.1712A>C (p.Glu571Ala)
n.2077A>C
c.1808A>C (p.Glu603Ala)
c.1898A>C (p.Glu633Ala)
c.*1813A>C (n.*1813A>C)
n.263A>C
c.*1429A>C (n.*1429A>C)
n.148A>C
c.1832A>C (p.Glu611Ala)
c.1769A>C (p.Glu590Ala)
n.803A>C
c.1838A>C (p.Glu613Ala)
1g.6470585T=CA1143358829PLEKHG5c.1601A= (p.Glu534=)
c.1775A= (p.Glu592=)
c.1712A= (p.Glu571=)
n.2077A=
c.1808A= (p.Glu603=)
c.1898A= (p.Glu633=)
c.*1813A= (n.*1813A=)
n.263A=
c.*1429A= (n.*1429A=)
n.148A=
c.1832A= (p.Glu611=)
c.1769A= (p.Glu590=)
n.803A=
c.1838A= (p.Glu613=)
1g.6470586C>ACA338125420PLEKHG5c.1600G>T (p.Glu534Ter)
c.1774G>T (p.Glu592Ter)
c.1711G>T (p.Glu571Ter)
n.2076G>T
c.1807G>T (p.Glu603Ter)
c.1897G>T (p.Glu633Ter)
c.*1812G>T (n.*1812G>T)
n.262G>T
c.*1428G>T (n.*1428G>T)
n.147G>T
c.1831G>T (p.Glu611Ter)
c.1768G>T (p.Glu590Ter)
n.802G>T
c.1837G>T (p.Glu613Ter)
gnomAD v4
1g.6470586C=CA1151524469PLEKHG5c.1600G= (p.Glu534=)
c.1774G= (p.Glu592=)
c.1711G= (p.Glu571=)
n.2076G=
c.1807G= (p.Glu603=)
c.1897G= (p.Glu633=)
c.*1812G= (n.*1812G=)
n.262G=
c.*1428G= (n.*1428G=)
n.147G=
c.1831G= (p.Glu611=)
c.1768G= (p.Glu590=)
n.802G=
c.1837G= (p.Glu613=)
1g.6470586C>GCA338125410PLEKHG5c.1600G>C (p.Glu534Gln)
c.1774G>C (p.Glu592Gln)
c.1711G>C (p.Glu571Gln)
n.2076G>C
c.1807G>C (p.Glu603Gln)
c.1897G>C (p.Glu633Gln)
c.*1812G>C (n.*1812G>C)
n.262G>C
c.*1428G>C (n.*1428G>C)
n.147G>C
c.1831G>C (p.Glu611Gln)
c.1768G>C (p.Glu590Gln)
n.802G>C
c.1837G>C (p.Glu613Gln)
1g.6470586C>TCA338125417PLEKHG5c.1600G>A (p.Glu534Lys)
c.1774G>A (p.Glu592Lys)
c.1711G>A (p.Glu571Lys)
n.2076G>A
c.1807G>A (p.Glu603Lys)
c.1897G>A (p.Glu633Lys)
c.*1812G>A (n.*1812G>A)
n.262G>A
c.*1428G>A (n.*1428G>A)
n.147G>A
c.1831G>A (p.Glu611Lys)
c.1768G>A (p.Glu590Lys)
n.802G>A
c.1837G>A (p.Glu613Lys)
dbSNP gnomAD v3 gnomAD v4
1g.6470587delCA2574194582PLEKHG5c.1600del (p.Glu534SerfsTer9)
c.1774del (p.Glu592SerfsTer9)
c.1711del (p.Glu571SerfsTer9)
n.2076del
c.1807del (p.Glu603SerfsTer9)
c.1897del (p.Glu633SerfsTer9)
c.*1812del (n.*1812del)
n.262del
c.*1428del (n.*1428del)
n.147del
c.1831del (p.Glu611SerfsTer9)
c.1768del (p.Glu590SerfsTer9)
n.802del
c.1837del (p.Glu613SerfsTer9)
1g.6470587C>ACA338125424PLEKHG5c.1599G>T (p.Gln533His)
c.1773G>T (p.Gln591His)
c.1710G>T (p.Gln570His)
n.2075G>T
c.1806G>T (p.Gln602His)
c.1896G>T (p.Gln632His)
c.*1811G>T (n.*1811G>T)
n.261G>T
c.*1427G>T (n.*1427G>T)
n.146G>T
c.1830G>T (p.Gln610His)
c.1767G>T (p.Gln589His)
n.801G>T
c.1836G>T (p.Gln612His)
1g.6470587C>GCA338125430PLEKHG5c.1599G>C (p.Gln533His)
c.1773G>C (p.Gln591His)
c.1710G>C (p.Gln570His)
n.2075G>C
c.1806G>C (p.Gln602His)
c.1896G>C (p.Gln632His)
c.*1811G>C (n.*1811G>C)
n.261G>C
c.*1427G>C (n.*1427G>C)
n.146G>C
c.1830G>C (p.Gln610His)
c.1767G>C (p.Gln589His)
n.801G>C
c.1836G>C (p.Gln612His)
gnomAD v4
1g.6470587C>TCA416022678PLEKHG5c.1599G>A (p.Gln533=)
c.1773G>A (p.Gln591=)
c.1710G>A (p.Gln570=)
n.2075G>A
c.1806G>A (p.Gln602=)
c.1896G>A (p.Gln632=)
c.*1811G>A (n.*1811G>A)
n.261G>A
c.*1427G>A (n.*1427G>A)
n.146G>A
c.1830G>A (p.Gln610=)
c.1767G>A (p.Gln589=)
n.801G>A
c.1836G>A (p.Gln612=)
1g.6470594_6470599dupCA2580611389PLEKHG5c.1594_1599dup (p.Gln533_Glu534insArgGln)
c.1768_1773dup (p.Gln591_Glu592insArgGln)
c.1705_1710dup (p.Gln570_Glu571insArgGln)
n.2070_2075dup
c.1801_1806dup (p.Gln602_Glu603insArgGln)
c.1891_1896dup (p.Gln632_Glu633insArgGln)
c.*1806_*1811dup (n.*1806_*1811dup)
n.256_261dup
c.*1422_*1427dup (n.*1422_*1427dup)
n.141_146dup
c.1825_1830dup (p.Gln610_Glu611insArgGln)
c.1762_1767dup (p.Gln589_Glu590insArgGln)
n.796_801dup
c.1831_1836dup (p.Gln612_Glu613insArgGln)
ClinVar
1g.6470588T>ACA338125445PLEKHG5c.1598A>T (p.Gln533Leu)
c.1772A>T (p.Gln591Leu)
c.1709A>T (p.Gln570Leu)
n.2074A>T
c.1805A>T (p.Gln602Leu)
c.1895A>T (p.Gln632Leu)
c.*1810A>T (n.*1810A>T)
n.260A>T
c.*1426A>T (n.*1426A>T)
n.145A>T
c.1829A>T (p.Gln610Leu)
c.1766A>T (p.Gln589Leu)
n.800A>T
c.1835A>T (p.Gln612Leu)
1g.6470588T>CCA338125447PLEKHG5c.1598A>G (p.Gln533Arg)
c.1772A>G (p.Gln591Arg)
c.1709A>G (p.Gln570Arg)
n.2074A>G
c.1805A>G (p.Gln602Arg)
c.1895A>G (p.Gln632Arg)
c.*1810A>G (n.*1810A>G)
n.260A>G
c.*1426A>G (n.*1426A>G)
n.145A>G
c.1829A>G (p.Gln610Arg)
c.1766A>G (p.Gln589Arg)
n.800A>G
c.1835A>G (p.Gln612Arg)
gnomAD v4
1g.6470588T>GCA338125449PLEKHG5c.1598A>C (p.Gln533Pro)
c.1772A>C (p.Gln591Pro)
c.1709A>C (p.Gln570Pro)
n.2074A>C
c.1805A>C (p.Gln602Pro)
c.1895A>C (p.Gln632Pro)
c.*1810A>C (n.*1810A>C)
n.260A>C
c.*1426A>C (n.*1426A>C)
n.145A>C
c.1829A>C (p.Gln610Pro)
c.1766A>C (p.Gln589Pro)
n.800A>C
c.1835A>C (p.Gln612Pro)
1g.6470588_6470597delinsTGCCGCTGCCCA1151524474PLEKHG5c.1589_1598delinsGGCAGCGGCA (p.Arg530=)
c.1763_1772delinsGGCAGCGGCA (p.Arg588=)
c.1700_1709delinsGGCAGCGGCA (p.Arg567=)
n.2065_2074delinsGGCAGCGGCA
c.1796_1805delinsGGCAGCGGCA (p.Arg599=)
c.1886_1895delinsGGCAGCGGCA (p.Arg629=)
c.*1801_*1810delinsGGCAGCGGCA (n.*1801_*1810delinsGGCAGCGGCA)
n.251_260delinsGGCAGCGGCA
c.*1417_*1426delinsGGCAGCGGCA (n.*1417_*1426delinsGGCAGCGGCA)
n.136_145delinsGGCAGCGGCA
c.1820_1829delinsGGCAGCGGCA (p.Arg607=)
c.1757_1766delinsGGCAGCGGCA (p.Arg586=)
n.791_800delinsGGCAGCGGCA
c.1826_1835delinsGGCAGCGGCA (p.Arg609=)
1g.6470589G>ACA338125453PLEKHG5c.1597C>T (p.Gln533Ter)
c.1771C>T (p.Gln591Ter)
c.1708C>T (p.Gln570Ter)
n.2073C>T
c.1804C>T (p.Gln602Ter)
c.1894C>T (p.Gln632Ter)
c.*1809C>T (n.*1809C>T)
n.259C>T
c.*1425C>T (n.*1425C>T)
n.144C>T
c.1828C>T (p.Gln610Ter)
c.1765C>T (p.Gln589Ter)
n.799C>T
c.1834C>T (p.Gln612Ter)
COSMIC COSMIC COSMIC
1g.6470589G>CCA338125462PLEKHG5c.1597C>G (p.Gln533Glu)
c.1771C>G (p.Gln591Glu)
c.1708C>G (p.Gln570Glu)
n.2073C>G
c.1804C>G (p.Gln602Glu)
c.1894C>G (p.Gln632Glu)
c.*1809C>G (n.*1809C>G)
n.259C>G
c.*1425C>G (n.*1425C>G)
n.144C>G
c.1828C>G (p.Gln610Glu)
c.1765C>G (p.Gln589Glu)
n.799C>G
c.1834C>G (p.Gln612Glu)
1g.6470589G>TCA338125466PLEKHG5c.1597C>A (p.Gln533Lys)
c.1771C>A (p.Gln591Lys)
c.1708C>A (p.Gln570Lys)
n.2073C>A
c.1804C>A (p.Gln602Lys)
c.1894C>A (p.Gln632Lys)
c.*1809C>A (n.*1809C>A)
n.259C>A
c.*1425C>A (n.*1425C>A)
n.144C>A
c.1828C>A (p.Gln610Lys)
c.1765C>A (p.Gln589Lys)
n.799C>A
c.1834C>A (p.Gln612Lys)
gnomAD v4
1g.6470591_6470599delCA1151524478PLEKHG5c.1589_1597del (p.Arg530_Arg532del)
c.1763_1771del (p.Arg588_Arg590del)
c.1700_1708del (p.Arg567_Arg569del)
n.2065_2073del
c.1796_1804del (p.Arg599_Arg601del)
c.1886_1894del (p.Arg629_Arg631del)
c.*1801_*1809del (n.*1801_*1809del)
n.251_259del
c.*1417_*1425del (n.*1417_*1425del)
n.136_144del
c.1820_1828del (p.Arg607_Arg609del)
c.1757_1765del (p.Arg586_Arg588del)
n.791_799del
c.1826_1834del (p.Arg609_Arg611del)
dbSNP
1g.6470590C>ACA416022680PLEKHG5c.1596G>T (p.Arg532=)
c.1770G>T (p.Arg590=)
c.1707G>T (p.Arg569=)
n.2072G>T
c.1803G>T (p.Arg601=)
c.1893G>T (p.Arg631=)
c.*1808G>T (n.*1808G>T)
n.258G>T
c.*1424G>T (n.*1424G>T)
n.143G>T
c.1827G>T (p.Arg609=)
c.1764G>T (p.Arg588=)
n.798G>T
c.1833G>T (p.Arg611=)
gnomAD v4
1g.6470590C=CA1151524484PLEKHG5c.1596G= (p.Arg532=)
c.1770G= (p.Arg590=)
c.1707G= (p.Arg569=)
n.2072G=
c.1803G= (p.Arg601=)
c.1893G= (p.Arg631=)
c.*1808G= (n.*1808G=)
n.258G=
c.*1424G= (n.*1424G=)
n.143G=
c.1827G= (p.Arg609=)
c.1764G= (p.Arg588=)
n.798G=
c.1833G= (p.Arg611=)
1g.6470590C>GCA416022681PLEKHG5c.1596G>C (p.Arg532=)
c.1770G>C (p.Arg590=)
c.1707G>C (p.Arg569=)
n.2072G>C
c.1803G>C (p.Arg601=)
c.1893G>C (p.Arg631=)
c.*1808G>C (n.*1808G>C)
n.258G>C
c.*1424G>C (n.*1424G>C)
n.143G>C
c.1827G>C (p.Arg609=)
c.1764G>C (p.Arg588=)
n.798G>C
c.1833G>C (p.Arg611=)
1g.6470590C>TCA561451PLEKHG5c.1596G>A (p.Arg532=)
c.1770G>A (p.Arg590=)
c.1707G>A (p.Arg569=)
n.2072G>A
c.1803G>A (p.Arg601=)
c.1893G>A (p.Arg631=)
c.*1808G>A (n.*1808G>A)
n.258G>A
c.*1424G>A (n.*1424G>A)
n.143G>A
c.1827G>A (p.Arg609=)
c.1764G>A (p.Arg588=)
n.798G>A
c.1833G>A (p.Arg611=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470591C>ACA338125486PLEKHG5c.1595G>T (p.Arg532Leu)
c.1769G>T (p.Arg590Leu)
c.1706G>T (p.Arg569Leu)
n.2071G>T
c.1802G>T (p.Arg601Leu)
c.1892G>T (p.Arg631Leu)
c.*1807G>T (n.*1807G>T)
n.257G>T
c.*1423G>T (n.*1423G>T)
n.142G>T
c.1826G>T (p.Arg609Leu)
c.1763G>T (p.Arg588Leu)
n.797G>T
c.1832G>T (p.Arg611Leu)
gnomAD v4
1g.6470591C=CA1148426744PLEKHG5c.1595G= (p.Arg532=)
c.1769G= (p.Arg590=)
c.1706G= (p.Arg569=)
n.2071G=
c.1802G= (p.Arg601=)
c.1892G= (p.Arg631=)
c.*1807G= (n.*1807G=)
n.257G=
c.*1423G= (n.*1423G=)
n.142G=
c.1826G= (p.Arg609=)
c.1763G= (p.Arg588=)
n.797G=
c.1832G= (p.Arg611=)
1g.6470591C>GCA338125487PLEKHG5c.1595G>C (p.Arg532Pro)
c.1769G>C (p.Arg590Pro)
c.1706G>C (p.Arg569Pro)
n.2071G>C
c.1802G>C (p.Arg601Pro)
c.1892G>C (p.Arg631Pro)
c.*1807G>C (n.*1807G>C)
n.257G>C
c.*1423G>C (n.*1423G>C)
n.142G>C
c.1826G>C (p.Arg609Pro)
c.1763G>C (p.Arg588Pro)
n.797G>C
c.1832G>C (p.Arg611Pro)
1g.6470591C>TCA561452PLEKHG5c.1595G>A (p.Arg532Gln)
c.1769G>A (p.Arg590Gln)
c.1706G>A (p.Arg569Gln)
n.2071G>A
c.1802G>A (p.Arg601Gln)
c.1892G>A (p.Arg631Gln)
c.*1807G>A (n.*1807G>A)
n.257G>A
c.*1423G>A (n.*1423G>A)
n.142G>A
c.1826G>A (p.Arg609Gln)
c.1763G>A (p.Arg588Gln)
n.797G>A
c.1832G>A (p.Arg611Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.6470592G>ACA561453PLEKHG5c.1594C>T (p.Arg532Trp)
c.1768C>T (p.Arg590Trp)
c.1705C>T (p.Arg569Trp)
n.2070C>T
c.1801C>T (p.Arg601Trp)
c.1891C>T (p.Arg631Trp)
c.*1806C>T (n.*1806C>T)
n.256C>T
c.*1422C>T (n.*1422C>T)
n.141C>T
c.1825C>T (p.Arg609Trp)
c.1762C>T (p.Arg588Trp)
n.796C>T
c.1831C>T (p.Arg611Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470592G>CCA338125497PLEKHG5c.1594C>G (p.Arg532Gly)
c.1768C>G (p.Arg590Gly)
c.1705C>G (p.Arg569Gly)
n.2070C>G
c.1801C>G (p.Arg601Gly)
c.1891C>G (p.Arg631Gly)
c.*1806C>G (n.*1806C>G)
n.256C>G
c.*1422C>G (n.*1422C>G)
n.141C>G
c.1825C>G (p.Arg609Gly)
c.1762C>G (p.Arg588Gly)
n.796C>G
c.1831C>G (p.Arg611Gly)
1g.6470592G=CA1151524488PLEKHG5c.1594C= (p.Arg532=)
c.1768C= (p.Arg590=)
c.1705C= (p.Arg569=)
n.2070C=
c.1801C= (p.Arg601=)
c.1891C= (p.Arg631=)
c.*1806C= (n.*1806C=)
n.256C=
c.*1422C= (n.*1422C=)
n.141C=
c.1825C= (p.Arg609=)
c.1762C= (p.Arg588=)
n.796C=
c.1831C= (p.Arg611=)
1g.6470592G>TCA416022687PLEKHG5c.1594C>A (p.Arg532=)
c.1768C>A (p.Arg590=)
c.1705C>A (p.Arg569=)
n.2070C>A
c.1801C>A (p.Arg601=)
c.1891C>A (p.Arg631=)
c.*1806C>A (n.*1806C>A)
n.256C>A
c.*1422C>A (n.*1422C>A)
n.141C>A
c.1825C>A (p.Arg609=)
c.1762C>A (p.Arg588=)
n.796C>A
c.1831C>A (p.Arg611=)
gnomAD v4
1g.6470593C>ACA338125504PLEKHG5c.1593G>T (p.Gln531His)
c.1767G>T (p.Gln589His)
c.1704G>T (p.Gln568His)
n.2069G>T
c.1800G>T (p.Gln600His)
c.1890G>T (p.Gln630His)
c.*1805G>T (n.*1805G>T)
n.255G>T
c.*1421G>T (n.*1421G>T)
n.140G>T
c.1824G>T (p.Gln608His)
c.1761G>T (p.Gln587His)
n.795G>T
c.1830G>T (p.Gln610His)
1g.6470593C>GCA338125501PLEKHG5c.1593G>C (p.Gln531His)
c.1767G>C (p.Gln589His)
c.1704G>C (p.Gln568His)
n.2069G>C
c.1800G>C (p.Gln600His)
c.1890G>C (p.Gln630His)
c.*1805G>C (n.*1805G>C)
n.255G>C
c.*1421G>C (n.*1421G>C)
n.140G>C
c.1824G>C (p.Gln608His)
c.1761G>C (p.Gln587His)
n.795G>C
c.1830G>C (p.Gln610His)
1g.6470593C>TCA416022690PLEKHG5c.1593G>A (p.Gln531=)
c.1767G>A (p.Gln589=)
c.1704G>A (p.Gln568=)
n.2069G>A
c.1800G>A (p.Gln600=)
c.1890G>A (p.Gln630=)
c.*1805G>A (n.*1805G>A)
n.255G>A
c.*1421G>A (n.*1421G>A)
n.140G>A
c.1824G>A (p.Gln608=)
c.1761G>A (p.Gln587=)
n.795G>A
c.1830G>A (p.Gln610=)
gnomAD v4
1g.6470594T>ACA338125508PLEKHG5c.1592A>T (p.Gln531Leu)
c.1766A>T (p.Gln589Leu)
c.1703A>T (p.Gln568Leu)
n.2068A>T
c.1799A>T (p.Gln600Leu)
c.1889A>T (p.Gln630Leu)
c.*1804A>T (n.*1804A>T)
n.254A>T
c.*1420A>T (n.*1420A>T)
n.139A>T
c.1823A>T (p.Gln608Leu)
c.1760A>T (p.Gln587Leu)
n.794A>T
c.1829A>T (p.Gln610Leu)
1g.6470594T>CCA338125519PLEKHG5c.1592A>G (p.Gln531Arg)
c.1766A>G (p.Gln589Arg)
c.1703A>G (p.Gln568Arg)
n.2068A>G
c.1799A>G (p.Gln600Arg)
c.1889A>G (p.Gln630Arg)
c.*1804A>G (n.*1804A>G)
n.254A>G
c.*1420A>G (n.*1420A>G)
n.139A>G
c.1823A>G (p.Gln608Arg)
c.1760A>G (p.Gln587Arg)
n.794A>G
c.1829A>G (p.Gln610Arg)
1g.6470594T>GCA338125534PLEKHG5c.1592A>C (p.Gln531Pro)
c.1766A>C (p.Gln589Pro)
c.1703A>C (p.Gln568Pro)
n.2068A>C
c.1799A>C (p.Gln600Pro)
c.1889A>C (p.Gln630Pro)
c.*1804A>C (n.*1804A>C)
n.254A>C
c.*1420A>C (n.*1420A>C)
n.139A>C
c.1823A>C (p.Gln608Pro)
c.1760A>C (p.Gln587Pro)
n.794A>C
c.1829A>C (p.Gln610Pro)
1g.6470595G>ACA338125545PLEKHG5c.1591C>T (p.Gln531Ter)
c.1765C>T (p.Gln589Ter)
c.1702C>T (p.Gln568Ter)
n.2067C>T
c.1798C>T (p.Gln600Ter)
c.1888C>T (p.Gln630Ter)
c.*1803C>T (n.*1803C>T)
n.253C>T
c.*1419C>T (n.*1419C>T)
n.138C>T
c.1822C>T (p.Gln608Ter)
c.1759C>T (p.Gln587Ter)
n.793C>T
c.1828C>T (p.Gln610Ter)
dbSNP gnomAD v2 gnomAD v4
1g.6470595G>CCA338125554PLEKHG5c.1591C>G (p.Gln531Glu)
c.1765C>G (p.Gln589Glu)
c.1702C>G (p.Gln568Glu)
n.2067C>G
c.1798C>G (p.Gln600Glu)
c.1888C>G (p.Gln630Glu)
c.*1803C>G (n.*1803C>G)
n.253C>G
c.*1419C>G (n.*1419C>G)
n.138C>G
c.1822C>G (p.Gln608Glu)
c.1759C>G (p.Gln587Glu)
n.793C>G
c.1828C>G (p.Gln610Glu)
dbSNP
1g.6470595G=CA1151524492PLEKHG5c.1591C= (p.Gln531=)
c.1765C= (p.Gln589=)
c.1702C= (p.Gln568=)
n.2067C=
c.1798C= (p.Gln600=)
c.1888C= (p.Gln630=)
c.*1803C= (n.*1803C=)
n.253C=
c.*1419C= (n.*1419C=)
n.138C=
c.1822C= (p.Gln608=)
c.1759C= (p.Gln587=)
n.793C=
c.1828C= (p.Gln610=)
1g.6470595G>TCA338125564PLEKHG5c.1591C>A (p.Gln531Lys)
c.1765C>A (p.Gln589Lys)
c.1702C>A (p.Gln568Lys)
n.2067C>A
c.1798C>A (p.Gln600Lys)
c.1888C>A (p.Gln630Lys)
c.*1803C>A (n.*1803C>A)
n.253C>A
c.*1419C>A (n.*1419C>A)
n.138C>A
c.1822C>A (p.Gln608Lys)
c.1759C>A (p.Gln587Lys)
n.793C>A
c.1828C>A (p.Gln610Lys)
gnomAD v4
1g.6470596C>ACA416022695PLEKHG5c.1590G>T (p.Arg530=)
c.1764G>T (p.Arg588=)
c.1701G>T (p.Arg567=)
n.2066G>T
c.1797G>T (p.Arg599=)
c.1887G>T (p.Arg629=)
c.*1802G>T (n.*1802G>T)
n.252G>T
c.*1418G>T (n.*1418G>T)
n.137G>T
c.1821G>T (p.Arg607=)
c.1758G>T (p.Arg586=)
n.792G>T
c.1827G>T (p.Arg609=)
1g.6470596C>GCA416022696PLEKHG5c.1590G>C (p.Arg530=)
c.1764G>C (p.Arg588=)
c.1701G>C (p.Arg567=)
n.2066G>C
c.1797G>C (p.Arg599=)
c.1887G>C (p.Arg629=)
c.*1802G>C (n.*1802G>C)
n.252G>C
c.*1418G>C (n.*1418G>C)
n.137G>C
c.1821G>C (p.Arg607=)
c.1758G>C (p.Arg586=)
n.792G>C
c.1827G>C (p.Arg609=)
1g.6470596C>TCA416022694PLEKHG5c.1590G>A (p.Arg530=)
c.1764G>A (p.Arg588=)
c.1701G>A (p.Arg567=)
n.2066G>A
c.1797G>A (p.Arg599=)
c.1887G>A (p.Arg629=)
c.*1802G>A (n.*1802G>A)
n.252G>A
c.*1418G>A (n.*1418G>A)
n.137G>A
c.1821G>A (p.Arg607=)
c.1758G>A (p.Arg586=)
n.792G>A
c.1827G>A (p.Arg609=)
gnomAD v4
1g.6470597C>ACA338125579PLEKHG5c.1589G>T (p.Arg530Leu)
c.1763G>T (p.Arg588Leu)
c.1700G>T (p.Arg567Leu)
n.2065G>T
c.1796G>T (p.Arg599Leu)
c.1886G>T (p.Arg629Leu)
c.*1801G>T (n.*1801G>T)
n.251G>T
c.*1417G>T (n.*1417G>T)
n.136G>T
c.1820G>T (p.Arg607Leu)
c.1757G>T (p.Arg586Leu)
n.791G>T
c.1826G>T (p.Arg609Leu)
dbSNP gnomAD v4
1g.6470597C=CA1151524497PLEKHG5c.1589G= (p.Arg530=)
c.1763G= (p.Arg588=)
c.1700G= (p.Arg567=)
n.2065G=
c.1796G= (p.Arg599=)
c.1886G= (p.Arg629=)
c.*1801G= (n.*1801G=)
n.251G=
c.*1417G= (n.*1417G=)
n.136G=
c.1820G= (p.Arg607=)
c.1757G= (p.Arg586=)
n.791G=
c.1826G= (p.Arg609=)
1g.6470597C>GCA338125576PLEKHG5c.1589G>C (p.Arg530Pro)
c.1763G>C (p.Arg588Pro)
c.1700G>C (p.Arg567Pro)
n.2065G>C
c.1796G>C (p.Arg599Pro)
c.1886G>C (p.Arg629Pro)
c.*1801G>C (n.*1801G>C)
n.251G>C
c.*1417G>C (n.*1417G>C)
n.136G>C
c.1820G>C (p.Arg607Pro)
c.1757G>C (p.Arg586Pro)
n.791G>C
c.1826G>C (p.Arg609Pro)
1g.6470597C>TCA338125578PLEKHG5c.1589G>A (p.Arg530Gln)
c.1763G>A (p.Arg588Gln)
c.1700G>A (p.Arg567Gln)
n.2065G>A
c.1796G>A (p.Arg599Gln)
c.1886G>A (p.Arg629Gln)
c.*1801G>A (n.*1801G>A)
n.251G>A
c.*1417G>A (n.*1417G>A)
n.136G>A
c.1820G>A (p.Arg607Gln)
c.1757G>A (p.Arg586Gln)
n.791G>A
c.1826G>A (p.Arg609Gln)
gnomAD v4
1g.6470598G>ACA338125580PLEKHG5c.1588C>T (p.Arg530Trp)
c.1762C>T (p.Arg588Trp)
c.1699C>T (p.Arg567Trp)
n.2064C>T
c.1795C>T (p.Arg599Trp)
c.1885C>T (p.Arg629Trp)
c.*1800C>T (n.*1800C>T)
n.250C>T
c.*1416C>T (n.*1416C>T)
n.135C>T
c.1819C>T (p.Arg607Trp)
c.1756C>T (p.Arg586Trp)
n.790C>T
c.1825C>T (p.Arg609Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
1g.6470598G>CCA338125581PLEKHG5c.1588C>G (p.Arg530Gly)
c.1762C>G (p.Arg588Gly)
c.1699C>G (p.Arg567Gly)
n.2064C>G
c.1795C>G (p.Arg599Gly)
c.1885C>G (p.Arg629Gly)
c.*1800C>G (n.*1800C>G)
n.250C>G
c.*1416C>G (n.*1416C>G)
n.135C>G
c.1819C>G (p.Arg607Gly)
c.1756C>G (p.Arg586Gly)
n.790C>G
c.1825C>G (p.Arg609Gly)
gnomAD v4
1g.6470598G=CA1151524498PLEKHG5c.1588C= (p.Arg530=)
c.1762C= (p.Arg588=)
c.1699C= (p.Arg567=)
n.2064C=
c.1795C= (p.Arg599=)
c.1885C= (p.Arg629=)
c.*1800C= (n.*1800C=)
n.250C=
c.*1416C= (n.*1416C=)
n.135C=
c.1819C= (p.Arg607=)
c.1756C= (p.Arg586=)
n.790C=
c.1825C= (p.Arg609=)
1g.6470598G>TCA416022701PLEKHG5c.1588C>A (p.Arg530=)
c.1762C>A (p.Arg588=)
c.1699C>A (p.Arg567=)
n.2064C>A
c.1795C>A (p.Arg599=)
c.1885C>A (p.Arg629=)
c.*1800C>A (n.*1800C>A)
n.250C>A
c.*1416C>A (n.*1416C>A)
n.135C>A
c.1819C>A (p.Arg607=)
c.1756C>A (p.Arg586=)
n.790C>A
c.1825C>A (p.Arg609=)
dbSNP gnomAD v3 gnomAD v4
1g.6470599C>ACA338125586PLEKHG5c.1587G>T (p.Met529Ile)
c.1761G>T (p.Met587Ile)
c.1698G>T (p.Met566Ile)
n.2063G>T
c.1794G>T (p.Met598Ile)
c.1884G>T (p.Met628Ile)
c.*1799G>T (n.*1799G>T)
n.249G>T
c.*1415G>T (n.*1415G>T)
n.134G>T
c.1818G>T (p.Met606Ile)
c.1755G>T (p.Met585Ile)
n.789G>T
c.1824G>T (p.Met608Ile)
1g.6470599C>GCA338125589PLEKHG5c.1587G>C (p.Met529Ile)
c.1761G>C (p.Met587Ile)
c.1698G>C (p.Met566Ile)
n.2063G>C
c.1794G>C (p.Met598Ile)
c.1884G>C (p.Met628Ile)
c.*1799G>C (n.*1799G>C)
n.249G>C
c.*1415G>C (n.*1415G>C)
n.134G>C
c.1818G>C (p.Met606Ile)
c.1755G>C (p.Met585Ile)
n.789G>C
c.1824G>C (p.Met608Ile)
1g.6470599C>TCA338125594PLEKHG5c.1587G>A (p.Met529Ile)
c.1761G>A (p.Met587Ile)
c.1698G>A (p.Met566Ile)
n.2063G>A
c.1794G>A (p.Met598Ile)
c.1884G>A (p.Met628Ile)
c.*1799G>A (n.*1799G>A)
n.249G>A
c.*1415G>A (n.*1415G>A)
n.134G>A
c.1818G>A (p.Met606Ile)
c.1755G>A (p.Met585Ile)
n.789G>A
c.1824G>A (p.Met608Ile)
1g.6470600A=CA1151524509PLEKHG5c.1586T= (p.Met529=)
c.1760T= (p.Met587=)
c.1697T= (p.Met566=)
n.2062T=
c.1793T= (p.Met598=)
c.1883T= (p.Met628=)
c.*1798T= (n.*1798T=)
n.248T=
c.*1414T= (n.*1414T=)
n.133T=
c.1817T= (p.Met606=)
c.1754T= (p.Met585=)
n.788T=
c.1823T= (p.Met608=)
1g.6470600A>CCA338125609PLEKHG5c.1586T>G (p.Met529Arg)
c.1760T>G (p.Met587Arg)
c.1697T>G (p.Met566Arg)
n.2062T>G
c.1793T>G (p.Met598Arg)
c.1883T>G (p.Met628Arg)
c.*1798T>G (n.*1798T>G)
n.248T>G
c.*1414T>G (n.*1414T>G)
n.133T>G
c.1817T>G (p.Met606Arg)
c.1754T>G (p.Met585Arg)
n.788T>G
c.1823T>G (p.Met608Arg)
1g.6470600A>GCA338125620PLEKHG5c.1586T>C (p.Met529Thr)
c.1760T>C (p.Met587Thr)
c.1697T>C (p.Met566Thr)
n.2062T>C
c.1793T>C (p.Met598Thr)
c.1883T>C (p.Met628Thr)
c.*1798T>C (n.*1798T>C)
n.248T>C
c.*1414T>C (n.*1414T>C)
n.133T>C
c.1817T>C (p.Met606Thr)
c.1754T>C (p.Met585Thr)
n.788T>C
c.1823T>C (p.Met608Thr)
dbSNP
1g.6470600A>TCA338125619PLEKHG5c.1586T>A (p.Met529Lys)
c.1760T>A (p.Met587Lys)
c.1697T>A (p.Met566Lys)
n.2062T>A
c.1793T>A (p.Met598Lys)
c.1883T>A (p.Met628Lys)
c.*1798T>A (n.*1798T>A)
n.248T>A
c.*1414T>A (n.*1414T>A)
n.133T>A
c.1817T>A (p.Met606Lys)
c.1754T>A (p.Met585Lys)
n.788T>A
c.1823T>A (p.Met608Lys)
1g.6470601T>ACA338125622PLEKHG5c.1585A>T (p.Met529Leu)
c.1759A>T (p.Met587Leu)
c.1696A>T (p.Met566Leu)
n.2061A>T
c.1792A>T (p.Met598Leu)
c.1882A>T (p.Met628Leu)
c.*1797A>T (n.*1797A>T)
n.247A>T
c.*1413A>T (n.*1413A>T)
n.132A>T
c.1816A>T (p.Met606Leu)
c.1753A>T (p.Met585Leu)
n.787A>T
c.1822A>T (p.Met608Leu)
1g.6470601T>CCA338125628PLEKHG5c.1585A>G (p.Met529Val)
c.1759A>G (p.Met587Val)
c.1696A>G (p.Met566Val)
n.2061A>G
c.1792A>G (p.Met598Val)
c.1882A>G (p.Met628Val)
c.*1797A>G (n.*1797A>G)
n.247A>G
c.*1413A>G (n.*1413A>G)
n.132A>G
c.1816A>G (p.Met606Val)
c.1753A>G (p.Met585Val)
n.787A>G
c.1822A>G (p.Met608Val)
gnomAD v4
1g.6470601T>GCA338125631PLEKHG5c.1585A>C (p.Met529Leu)
c.1759A>C (p.Met587Leu)
c.1696A>C (p.Met566Leu)
n.2061A>C
c.1792A>C (p.Met598Leu)
c.1882A>C (p.Met628Leu)
c.*1797A>C (n.*1797A>C)
n.247A>C
c.*1413A>C (n.*1413A>C)
n.132A>C
c.1816A>C (p.Met606Leu)
c.1753A>C (p.Met585Leu)
n.787A>C
c.1822A>C (p.Met608Leu)
1g.6470602G>ACA416022704PLEKHG5c.1584C>T (p.Cys528=)
c.1758C>T (p.Cys586=)
c.1695C>T (p.Cys565=)
n.2060C>T
c.1791C>T (p.Cys597=)
c.1881C>T (p.Cys627=)
c.*1796C>T (n.*1796C>T)
n.246C>T
c.*1412C>T (n.*1412C>T)
n.131C>T
c.1815C>T (p.Cys605=)
c.1752C>T (p.Cys584=)
n.786C>T
c.1821C>T (p.Cys607=)
gnomAD v4
1g.6470602G>CCA338125646PLEKHG5c.1584C>G (p.Cys528Trp)
c.1758C>G (p.Cys586Trp)
c.1695C>G (p.Cys565Trp)
n.2060C>G
c.1791C>G (p.Cys597Trp)
c.1881C>G (p.Cys627Trp)
c.*1796C>G (n.*1796C>G)
n.246C>G
c.*1412C>G (n.*1412C>G)
n.131C>G
c.1815C>G (p.Cys605Trp)
c.1752C>G (p.Cys584Trp)
n.786C>G
c.1821C>G (p.Cys607Trp)
1g.6470602G>TCA338125662PLEKHG5c.1584C>A (p.Cys528Ter)
c.1758C>A (p.Cys586Ter)
c.1695C>A (p.Cys565Ter)
n.2060C>A
c.1791C>A (p.Cys597Ter)
c.1881C>A (p.Cys627Ter)
c.*1796C>A (n.*1796C>A)
n.246C>A
c.*1412C>A (n.*1412C>A)
n.131C>A
c.1815C>A (p.Cys605Ter)
c.1752C>A (p.Cys584Ter)
n.786C>A
c.1821C>A (p.Cys607Ter)
gnomAD v4
1g.6470603C>ACA338125672PLEKHG5c.1583G>T (p.Cys528Phe)
c.1757G>T (p.Cys586Phe)
c.1694G>T (p.Cys565Phe)
n.2059G>T
c.1790G>T (p.Cys597Phe)
c.1880G>T (p.Cys627Phe)
c.*1795G>T (n.*1795G>T)
n.245G>T
c.*1411G>T (n.*1411G>T)
n.130G>T
c.1814G>T (p.Cys605Phe)
c.1751G>T (p.Cys584Phe)
n.785G>T
c.1820G>T (p.Cys607Phe)
1g.6470603C>GCA338125678PLEKHG5c.1583G>C (p.Cys528Ser)
c.1757G>C (p.Cys586Ser)
c.1694G>C (p.Cys565Ser)
n.2059G>C
c.1790G>C (p.Cys597Ser)
c.1880G>C (p.Cys627Ser)
c.*1795G>C (n.*1795G>C)
n.245G>C
c.*1411G>C (n.*1411G>C)
n.130G>C
c.1814G>C (p.Cys605Ser)
c.1751G>C (p.Cys584Ser)
n.785G>C
c.1820G>C (p.Cys607Ser)
1g.6470603C>TCA338125679PLEKHG5c.1583G>A (p.Cys528Tyr)
c.1757G>A (p.Cys586Tyr)
c.1694G>A (p.Cys565Tyr)
n.2059G>A
c.1790G>A (p.Cys597Tyr)
c.1880G>A (p.Cys627Tyr)
c.*1795G>A (n.*1795G>A)
n.245G>A
c.*1411G>A (n.*1411G>A)
n.130G>A
c.1814G>A (p.Cys605Tyr)
c.1751G>A (p.Cys584Tyr)
n.785G>A
c.1820G>A (p.Cys607Tyr)
gnomAD v4
1g.6470607_6470614delCA2642977094PLEKHG5c.1576_1583del (p.Asn526HisfsTer?)
c.1750_1757del (p.Asn584HisfsTer?)
c.1687_1694del (p.Asn563HisfsTer?)
n.2052_2059del
c.1783_1790del (p.Asn595HisfsTer?)
c.1873_1880del (p.Asn625HisfsTer?)
c.*1788_*1795del (n.*1788_*1795del)
n.238_245del
c.*1404_*1411del (n.*1404_*1411del)
n.123_130del
c.1807_1814del (p.Asn603HisfsTer?)
c.1744_1751del (p.Asn582HisfsTer?)
n.778_785del
c.1813_1820del (p.Asn605HisfsTer?)
gnomAD v4
1g.6470604A=CA1151524521PLEKHG5c.1582T= (p.Cys528=)
c.1756T= (p.Cys586=)
c.1693T= (p.Cys565=)
n.2058T=
c.1789T= (p.Cys597=)
c.1879T= (p.Cys627=)
c.*1794T= (n.*1794T=)
n.244T=
c.*1410T= (n.*1410T=)
n.129T=
c.1813T= (p.Cys605=)
c.1750T= (p.Cys584=)
n.784T=
c.1819T= (p.Cys607=)
1g.6470604A>CCA338125682PLEKHG5c.1582T>G (p.Cys528Gly)
c.1756T>G (p.Cys586Gly)
c.1693T>G (p.Cys565Gly)
n.2058T>G
c.1789T>G (p.Cys597Gly)
c.1879T>G (p.Cys627Gly)
c.*1794T>G (n.*1794T>G)
n.244T>G
c.*1410T>G (n.*1410T>G)
n.129T>G
c.1813T>G (p.Cys605Gly)
c.1750T>G (p.Cys584Gly)
n.784T>G
c.1819T>G (p.Cys607Gly)
dbSNP gnomAD v3 gnomAD v4
1g.6470604A>GCA338125683PLEKHG5c.1582T>C (p.Cys528Arg)
c.1756T>C (p.Cys586Arg)
c.1693T>C (p.Cys565Arg)
n.2058T>C
c.1789T>C (p.Cys597Arg)
c.1879T>C (p.Cys627Arg)
c.*1794T>C (n.*1794T>C)
n.244T>C
c.*1410T>C (n.*1410T>C)
n.129T>C
c.1813T>C (p.Cys605Arg)
c.1750T>C (p.Cys584Arg)
n.784T>C
c.1819T>C (p.Cys607Arg)
gnomAD v4
1g.6470604A>TCA338125687PLEKHG5c.1582T>A (p.Cys528Ser)
c.1756T>A (p.Cys586Ser)
c.1693T>A (p.Cys565Ser)
n.2058T>A
c.1789T>A (p.Cys597Ser)
c.1879T>A (p.Cys627Ser)
c.*1794T>A (n.*1794T>A)
n.244T>A
c.*1410T>A (n.*1410T>A)
n.129T>A
c.1813T>A (p.Cys605Ser)
c.1750T>A (p.Cys584Ser)
n.784T>A
c.1819T>A (p.Cys607Ser)
1g.6470605C>ACA561455PLEKHG5c.1581G>T (p.Ala527=)
c.1755G>T (p.Ala585=)
c.1692G>T (p.Ala564=)
n.2057G>T
c.1788G>T (p.Ala596=)
c.1878G>T (p.Ala626=)
c.*1793G>T (n.*1793G>T)
n.243G>T
c.*1409G>T (n.*1409G>T)
n.128G>T
c.1812G>T (p.Ala604=)
c.1749G>T (p.Ala583=)
n.783G>T
c.1818G>T (p.Ala606=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470605C=CA1151524525PLEKHG5c.1581G= (p.Ala527=)
c.1755G= (p.Ala585=)
c.1692G= (p.Ala564=)
n.2057G=
c.1788G= (p.Ala596=)
c.1878G= (p.Ala626=)
c.*1793G= (n.*1793G=)
n.243G=
c.*1409G= (n.*1409G=)
n.128G=
c.1812G= (p.Ala604=)
c.1749G= (p.Ala583=)
n.783G=
c.1818G= (p.Ala606=)
1g.6470605C>GCA416022706PLEKHG5c.1581G>C (p.Ala527=)
c.1755G>C (p.Ala585=)
c.1692G>C (p.Ala564=)
n.2057G>C
c.1788G>C (p.Ala596=)
c.1878G>C (p.Ala626=)
c.*1793G>C (n.*1793G>C)
n.243G>C
c.*1409G>C (n.*1409G>C)
n.128G>C
c.1812G>C (p.Ala604=)
c.1749G>C (p.Ala583=)
n.783G>C
c.1818G>C (p.Ala606=)
1g.6470605C>TCA561454PLEKHG5c.1581G>A (p.Ala527=)
c.1755G>A (p.Ala585=)
c.1692G>A (p.Ala564=)
n.2057G>A
c.1788G>A (p.Ala596=)
c.1878G>A (p.Ala626=)
c.*1793G>A (n.*1793G>A)
n.243G>A
c.*1409G>A (n.*1409G>A)
n.128G>A
c.1812G>A (p.Ala604=)
c.1749G>A (p.Ala583=)
n.783G>A
c.1818G>A (p.Ala606=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.6470606G>ACA561456PLEKHG5c.1580C>T (p.Ala527Val)
c.1754C>T (p.Ala585Val)
c.1691C>T (p.Ala564Val)
n.2056C>T
c.1787C>T (p.Ala596Val)
c.1877C>T (p.Ala626Val)
c.*1792C>T (n.*1792C>T)
n.242C>T
c.*1408C>T (n.*1408C>T)
n.127C>T
c.1811C>T (p.Ala604Val)
c.1748C>T (p.Ala583Val)
n.782C>T
c.1817C>T (p.Ala606Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470606G>CCA338125709PLEKHG5c.1580C>G (p.Ala527Gly)
c.1754C>G (p.Ala585Gly)
c.1691C>G (p.Ala564Gly)
n.2056C>G
c.1787C>G (p.Ala596Gly)
c.1877C>G (p.Ala626Gly)
c.*1792C>G (n.*1792C>G)
n.242C>G
c.*1408C>G (n.*1408C>G)
n.127C>G
c.1811C>G (p.Ala604Gly)
c.1748C>G (p.Ala583Gly)
n.782C>G
c.1817C>G (p.Ala606Gly)
1g.6470606G=CA1151524544PLEKHG5c.1580C= (p.Ala527=)
c.1754C= (p.Ala585=)
c.1691C= (p.Ala564=)
n.2056C=
c.1787C= (p.Ala596=)
c.1877C= (p.Ala626=)
c.*1792C= (n.*1792C=)
n.242C=
c.*1408C= (n.*1408C=)
n.127C=
c.1811C= (p.Ala604=)
c.1748C= (p.Ala583=)
n.782C=
c.1817C= (p.Ala606=)
1g.6470606G>TCA338125699PLEKHG5c.1580C>A (p.Ala527Glu)
c.1754C>A (p.Ala585Glu)
c.1691C>A (p.Ala564Glu)
n.2056C>A
c.1787C>A (p.Ala596Glu)
c.1877C>A (p.Ala626Glu)
c.*1792C>A (n.*1792C>A)
n.242C>A
c.*1408C>A (n.*1408C>A)
n.127C>A
c.1811C>A (p.Ala604Glu)
c.1748C>A (p.Ala583Glu)
n.782C>A
c.1817C>A (p.Ala606Glu)
dbSNP gnomAD v4
1g.6470607C>ACA338125741PLEKHG5c.1579G>T (p.Ala527Ser)
c.1753G>T (p.Ala585Ser)
c.1690G>T (p.Ala564Ser)
n.2055G>T
c.1786G>T (p.Ala596Ser)
c.1876G>T (p.Ala626Ser)
c.*1791G>T (n.*1791G>T)
n.241G>T
c.*1407G>T (n.*1407G>T)
n.126G>T
c.1810G>T (p.Ala604Ser)
c.1747G>T (p.Ala583Ser)
n.781G>T
c.1816G>T (p.Ala606Ser)
1g.6470607C>GCA338125747PLEKHG5c.1579G>C (p.Ala527Pro)
c.1753G>C (p.Ala585Pro)
c.1690G>C (p.Ala564Pro)
n.2055G>C
c.1786G>C (p.Ala596Pro)
c.1876G>C (p.Ala626Pro)
c.*1791G>C (n.*1791G>C)
n.241G>C
c.*1407G>C (n.*1407G>C)
n.126G>C
c.1810G>C (p.Ala604Pro)
c.1747G>C (p.Ala583Pro)
n.781G>C
c.1816G>C (p.Ala606Pro)
1g.6470607C>TCA338125753PLEKHG5c.1579G>A (p.Ala527Thr)
c.1753G>A (p.Ala585Thr)
c.1690G>A (p.Ala564Thr)
n.2055G>A
c.1786G>A (p.Ala596Thr)
c.1876G>A (p.Ala626Thr)
c.*1791G>A (n.*1791G>A)
n.241G>A
c.*1407G>A (n.*1407G>A)
n.126G>A
c.1810G>A (p.Ala604Thr)
c.1747G>A (p.Ala583Thr)
n.781G>A
c.1816G>A (p.Ala606Thr)
gnomAD v4
1g.6470608G>ACA17236848PLEKHG5c.1578C>T (p.Asn526=)
c.1752C>T (p.Asn584=)
c.1689C>T (p.Asn563=)
n.2054C>T
c.1785C>T (p.Asn595=)
c.1875C>T (p.Asn625=)
c.*1790C>T (n.*1790C>T)
n.240C>T
c.*1406C>T (n.*1406C>T)
n.125C>T
c.1809C>T (p.Asn603=)
c.1746C>T (p.Asn582=)
n.780C>T
c.1815C>T (p.Asn605=)
dbSNP gnomAD v2 gnomAD v4
1g.6470608G>CCA338125756PLEKHG5c.1578C>G (p.Asn526Lys)
c.1752C>G (p.Asn584Lys)
c.1689C>G (p.Asn563Lys)
n.2054C>G
c.1785C>G (p.Asn595Lys)
c.1875C>G (p.Asn625Lys)
c.*1790C>G (n.*1790C>G)
n.240C>G
c.*1406C>G (n.*1406C>G)
n.125C>G
c.1809C>G (p.Asn603Lys)
c.1746C>G (p.Asn582Lys)
n.780C>G
c.1815C>G (p.Asn605Lys)
dbSNP
1g.6470608G=CA1151524549PLEKHG5c.1578C= (p.Asn526=)
c.1752C= (p.Asn584=)
c.1689C= (p.Asn563=)
n.2054C=
c.1785C= (p.Asn595=)
c.1875C= (p.Asn625=)
c.*1790C= (n.*1790C=)
n.240C=
c.*1406C= (n.*1406C=)
n.125C=
c.1809C= (p.Asn603=)
c.1746C= (p.Asn582=)
n.780C=
c.1815C= (p.Asn605=)
1g.6470608G>TCA338125766PLEKHG5c.1578C>A (p.Asn526Lys)
c.1752C>A (p.Asn584Lys)
c.1689C>A (p.Asn563Lys)
n.2054C>A
c.1785C>A (p.Asn595Lys)
c.1875C>A (p.Asn625Lys)
c.*1790C>A (n.*1790C>A)
n.240C>A
c.*1406C>A (n.*1406C>A)
n.125C>A
c.1809C>A (p.Asn603Lys)
c.1746C>A (p.Asn582Lys)
n.780C>A
c.1815C>A (p.Asn605Lys)
gnomAD v4
1g.6470609T>ACA338125769PLEKHG5c.1577A>T (p.Asn526Ile)
c.1751A>T (p.Asn584Ile)
c.1688A>T (p.Asn563Ile)
n.2053A>T
c.1784A>T (p.Asn595Ile)
c.1874A>T (p.Asn625Ile)
c.*1789A>T (n.*1789A>T)
n.239A>T
c.*1405A>T (n.*1405A>T)
n.124A>T
c.1808A>T (p.Asn603Ile)
c.1745A>T (p.Asn582Ile)
n.779A>T
c.1814A>T (p.Asn605Ile)
1g.6470609T>CCA338125778PLEKHG5c.1577A>G (p.Asn526Ser)
c.1751A>G (p.Asn584Ser)
c.1688A>G (p.Asn563Ser)
n.2053A>G
c.1784A>G (p.Asn595Ser)
c.1874A>G (p.Asn625Ser)
c.*1789A>G (n.*1789A>G)
n.239A>G
c.*1405A>G (n.*1405A>G)
n.124A>G
c.1808A>G (p.Asn603Ser)
c.1745A>G (p.Asn582Ser)
n.779A>G
c.1814A>G (p.Asn605Ser)
1g.6470609T>GCA338125782PLEKHG5c.1577A>C (p.Asn526Thr)
c.1751A>C (p.Asn584Thr)
c.1688A>C (p.Asn563Thr)
n.2053A>C
c.1784A>C (p.Asn595Thr)
c.1874A>C (p.Asn625Thr)
c.*1789A>C (n.*1789A>C)
n.239A>C
c.*1405A>C (n.*1405A>C)
n.124A>C
c.1808A>C (p.Asn603Thr)
c.1745A>C (p.Asn582Thr)
n.779A>C
c.1814A>C (p.Asn605Thr)
1g.6470610T>ACA338125784PLEKHG5c.1576A>T (p.Asn526Tyr)
c.1750A>T (p.Asn584Tyr)
c.1687A>T (p.Asn563Tyr)
n.2052A>T
c.1783A>T (p.Asn595Tyr)
c.1873A>T (p.Asn625Tyr)
c.*1788A>T (n.*1788A>T)
n.238A>T
c.*1404A>T (n.*1404A>T)
n.123A>T
c.1807A>T (p.Asn603Tyr)
c.1744A>T (p.Asn582Tyr)
n.778A>T
c.1813A>T (p.Asn605Tyr)
1g.6470610T>CCA561457PLEKHG5c.1576A>G (p.Asn526Asp)
c.1750A>G (p.Asn584Asp)
c.1687A>G (p.Asn563Asp)
n.2052A>G
c.1783A>G (p.Asn595Asp)
c.1873A>G (p.Asn625Asp)
c.*1788A>G (n.*1788A>G)
n.238A>G
c.*1404A>G (n.*1404A>G)
n.123A>G
c.1807A>G (p.Asn603Asp)
c.1744A>G (p.Asn582Asp)
n.778A>G
c.1813A>G (p.Asn605Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6470610T>GCA338125787PLEKHG5c.1576A>C (p.Asn526His)
c.1750A>C (p.Asn584His)
c.1687A>C (p.Asn563His)
n.2052A>C
c.1783A>C (p.Asn595His)
c.1873A>C (p.Asn625His)
c.*1788A>C (n.*1788A>C)
n.238A>C
c.*1404A>C (n.*1404A>C)
n.123A>C
c.1807A>C (p.Asn603His)
c.1744A>C (p.Asn582His)
n.778A>C
c.1813A>C (p.Asn605His)
1g.6470610T=CA1151524584PLEKHG5c.1576A= (p.Asn526=)
c.1750A= (p.Asn584=)
c.1687A= (p.Asn563=)
n.2052A=
c.1783A= (p.Asn595=)
c.1873A= (p.Asn625=)
c.*1788A= (n.*1788A=)
n.238A=
c.*1404A= (n.*1404A=)
n.123A=
c.1807A= (p.Asn603=)
c.1744A= (p.Asn582=)
n.778A=
c.1813A= (p.Asn605=)

Number of alleles fetched