Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.6470510T>A | CA338124270 | PLEKHG5 | c.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) | |
1 | g.6470510T>C | CA561430 | PLEKHG5 | c.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 |
1 | g.6470510T>G | CA338124273 | PLEKHG5 | c.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) | |
1 | g.6470510T= | CA1151524111 | PLEKHG5 | c.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=) | |
1 | g.6470511C>A | CA338124278 | PLEKHG5 | c.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) | |
1 | g.6470511C>G | CA338124279 | PLEKHG5 | c.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) | |
1 | g.6470511C>T | CA338124281 | PLEKHG5 | c.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) | |
1 | g.6470512_6470522dup | CA521018770 | PLEKHG5 | c.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 |
1 | g.6470512C>A | CA416022465 | PLEKHG5 | c.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=) | |
1 | g.6470512C= | CA1151524117 | PLEKHG5 | c.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=) | |
1 | g.6470512C>G | CA416022466 | PLEKHG5 | c.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=) | |
1 | g.6470512C>T | CA416022468 | PLEKHG5 | c.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 |
1 | g.6470513A>C | CA338124290 | PLEKHG5 | c.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) | |
1 | g.6470513A>G | CA338124285 | PLEKHG5 | c.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) | |
1 | g.6470513A>T | CA338124287 | PLEKHG5 | c.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) | |
1 | g.6470514C>A | CA338124297 | PLEKHG5 | c.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) | |
1 | g.6470514C>G | CA338124301 | PLEKHG5 | c.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) | |
1 | g.6470514C>T | CA338124307 | PLEKHG5 | c.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 |
1 | g.6470515T>A | CA338124313 | PLEKHG5 | c.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) | |
1 | g.6470515T>C | CA416022469 | PLEKHG5 | c.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=) | |
1 | g.6470515T>G | CA338124319 | PLEKHG5 | c.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) | |
1 | g.6470516T>A | CA338124325 | PLEKHG5 | c.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) | |
1 | g.6470516T>C | CA338124349 | PLEKHG5 | c.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) | |
1 | g.6470516T>G | CA338124346 | PLEKHG5 | c.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 |
1 | g.6470516T= | CA1151524122 | PLEKHG5 | c.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=) | |
1 | g.6470517C>A | CA338124364 | PLEKHG5 | c.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) | |
1 | g.6470517C= | CA1151524127 | PLEKHG5 | c.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=) | |
1 | g.6470517C>G | CA561431 | PLEKHG5 | c.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 |
1 | g.6470517C>T | CA17236571 | PLEKHG5 | c.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 |
1 | g.6470518G>A | CA416022474 | PLEKHG5 | c.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 |
1 | g.6470518G>C | CA338124373 | PLEKHG5 | c.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 |
1 | g.6470518G= | CA1151524137 | PLEKHG5 | c.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=) | |
1 | g.6470518G>T | CA338124375 | PLEKHG5 | c.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) | |
1 | g.6470519T>A | CA338124380 | PLEKHG5 | c.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) | |
1 | g.6470519T>C | CA338124391 | PLEKHG5 | c.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) | |
1 | g.6470519T>G | CA338124396 | PLEKHG5 | c.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 |
1 | g.6470520C>A | CA338124407 | PLEKHG5 | c.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) | |
1 | g.6470520C= | CA1151524148 | PLEKHG5 | c.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=) | |
1 | g.6470520C>G | CA338124410 | PLEKHG5 | c.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) | |
1 | g.6470520C>T | CA561432 | PLEKHG5 | c.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 |
1 | g.6470521G>A | CA416022484 | PLEKHG5 | c.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 |
1 | g.6470521G>C | CA338124433 | PLEKHG5 | c.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 |
1 | g.6470521G= | CA1151524168 | PLEKHG5 | c.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=) | |
1 | g.6470521G>T | CA338124434 | PLEKHG5 | c.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 |
1 | g.6470522C>A | CA338124437 | PLEKHG5 | c.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) | |
1 | g.6470522C>G | CA338124442 | PLEKHG5 | c.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) | |
1 | g.6470522C>T | CA338124440 | PLEKHG5 | c.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) | |
1 | g.6470523T>A | CA561433 | PLEKHG5 | c.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 |
1 | g.6470523T>C | CA338124451 | PLEKHG5 | c.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) | |
1 | g.6470523T>G | CA338124450 | PLEKHG5 | c.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 |
1 | g.6470523T= | CA1148482320 | PLEKHG5 | c.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=) | |
1 | g.6470524G>A | CA416022500 | PLEKHG5 | c.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 |
1 | g.6470524G>C | CA338124453 | PLEKHG5 | c.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) | |
1 | g.6470524G>T | CA338124454 | PLEKHG5 | c.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) | |
1 | g.6470525C>A | CA338124458 | PLEKHG5 | c.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) | |
1 | g.6470525C>G | CA338124483 | PLEKHG5 | c.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) | |
1 | g.6470525C>T | CA338124488 | PLEKHG5 | c.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) | |
1 | g.6470526T>A | CA338124495 | PLEKHG5 | c.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 |
1 | g.6470526T>C | CA338124513 | PLEKHG5 | c.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) | |
1 | g.6470526T>G | CA338124519 | PLEKHG5 | c.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) | |
1 | g.6470526T= | CA1151524171 | PLEKHG5 | c.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=) | |
1 | g.6470527G>A | CA416022506 | PLEKHG5 | c.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 |
1 | g.6470527G>C | CA338124522 | PLEKHG5 | c.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) | |
1 | g.6470527G>T | CA338124524 | PLEKHG5 | c.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) | |
1 | g.6470528C>A | CA338124545 | PLEKHG5 | c.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) | |
1 | g.6470528C= | CA1151524175 | PLEKHG5 | c.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=) | |
1 | g.6470528C>G | CA338124544 | PLEKHG5 | c.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) | |
1 | g.6470528C>T | CA338124542 | PLEKHG5 | c.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 |
1 | g.6470529T>A | CA338124549 | PLEKHG5 | c.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) | |
1 | g.6470529T>C | CA338124552 | PLEKHG5 | c.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 |
1 | g.6470529T>G | CA338124559 | PLEKHG5 | c.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) | |
1 | g.6470530T>A | CA338124575 | PLEKHG5 | c.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) | |
1 | g.6470530T>C | CA416022517 | PLEKHG5 | c.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=) | |
1 | g.6470530T>G | CA338124576 | PLEKHG5 | c.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) | |
1 | g.6470531T>A | CA338124577 | PLEKHG5 | c.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) | |
1 | g.6470531T>C | CA561434 | PLEKHG5 | c.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 |
1 | g.6470531T>G | CA338124582 | PLEKHG5 | c.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) | |
1 | g.6470531T= | CA1151524179 | PLEKHG5 | c.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=) | |
1 | g.6470532C>A | CA338124588 | PLEKHG5 | c.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) | |
1 | g.6470532C>G | CA338124589 | PLEKHG5 | c.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) | |
1 | g.6470532C>T | CA338124590 | PLEKHG5 | c.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 |
1 | g.6470533C>A | CA416022527 | PLEKHG5 | c.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=) | |
1 | g.6470533C>G | CA416022523 | PLEKHG5 | c.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=) | |
1 | g.6470533C>T | CA416022524 | PLEKHG5 | c.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 |
1 | g.6470534A>C | CA338124593 | PLEKHG5 | c.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 |
1 | g.6470534A>G | CA338124597 | PLEKHG5 | c.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) | |
1 | g.6470534A>T | CA338124591 | PLEKHG5 | c.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) | |
1 | g.6470535C>A | CA338124603 | PLEKHG5 | c.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) | |
1 | g.6470535C= | CA1151524184 | PLEKHG5 | c.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=) | |
1 | g.6470535C>G | CA338124608 | PLEKHG5 | c.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) | |
1 | g.6470535C>T | CA338124610 | PLEKHG5 | c.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 |
1 | g.6470536C>A | CA561435 | PLEKHG5 | c.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 |
1 | g.6470536C= | CA1151524187 | PLEKHG5 | c.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=) | |
1 | g.6470536C>G | CA416022536 | PLEKHG5 | c.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=) | |
1 | g.6470536C>T | CA416022535 | PLEKHG5 | c.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=) | |
1 | g.6470537A= | CA1151524192 | PLEKHG5 | c.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=) | |
1 | g.6470537A>C | CA17236595 | PLEKHG5 | c.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 |
1 | g.6470537A>G | CA338124633 | PLEKHG5 | c.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) | |
1 | g.6470537A>T | CA338124636 | PLEKHG5 | c.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) | |
1 | g.6470537_6470539delinsACC | CA1151524194 | PLEKHG5 | c.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=) | |
1 | g.6470538C>A | CA338124640 | PLEKHG5 | c.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) | |
1 | g.6470538C= | CA1148408888 | PLEKHG5 | c.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=) | |
1 | g.6470538C>G | CA338124641 | PLEKHG5 | c.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) | |
1 | g.6470538C>T | CA561436 | PLEKHG5 | c.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 |
1 | g.6470538_6470539del | CA521018776 | PLEKHG5 | c.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 |
1 | g.6470539C>A | CA338124642 | PLEKHG5 | c.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) | |
1 | g.6470539C= | CA1151524200 | PLEKHG5 | c.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=) | |
1 | g.6470539C>G | CA338124643 | PLEKHG5 | c.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) | |
1 | g.6470539C>T | CA561437 | PLEKHG5 | c.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 |
1 | g.6470540T>A | CA338124656 | PLEKHG5 | c.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) | |
1 | g.6470540T>C | CA338124651 | PLEKHG5 | c.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) | |
1 | g.6470540T>G | CA338124648 | PLEKHG5 | c.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) | |
1 | g.6470541C>A | CA338124667 | PLEKHG5 | c.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) | |
1 | g.6470541C>G | CA338124682 | PLEKHG5 | c.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 |
1 | g.6470541C>T | CA338124684 | PLEKHG5 | c.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) | |
1 | g.6470542G>A | CA561438 | PLEKHG5 | c.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 |
1 | g.6470542G>C | CA338124703 | PLEKHG5 | c.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 |
1 | g.6470542G= | CA1151524202 | PLEKHG5 | c.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=) | |
1 | g.6470542G>T | CA338124705 | PLEKHG5 | c.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 |
1 | g.6470543T>A | CA338124707 | PLEKHG5 | c.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) | |
1 | g.6470543T>C | CA561439 | PLEKHG5 | c.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 |
1 | g.6470543T>G | CA338124713 | PLEKHG5 | c.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) | |
1 | g.6470543T= | CA1149124357 | PLEKHG5 | c.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=) | |
1 | g.6470544A>C | CA338124715 | PLEKHG5 | c.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) | |
1 | g.6470544A>G | CA338124718 | PLEKHG5 | c.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) | |
1 | g.6470544A>T | CA338124722 | PLEKHG5 | c.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) | |
1 | g.6470545G>A | CA416022549 | PLEKHG5 | c.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 |
1 | g.6470545G>C | CA416022550 | PLEKHG5 | c.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=) | |
1 | g.6470545G= | CA1151524218 | PLEKHG5 | c.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=) | |
1 | g.6470545G>T | CA416022552 | PLEKHG5 | c.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 |
1 | g.6470546G>A | CA338124726 | PLEKHG5 | c.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) | |
1 | g.6470546G>C | CA338124725 | PLEKHG5 | c.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 |
1 | g.6470546G= | CA1151524223 | PLEKHG5 | c.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=) | |
1 | g.6470546G>T | CA338124724 | PLEKHG5 | c.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 |
1 | g.6470547C>A | CA338124735 | PLEKHG5 | c.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) | |
1 | g.6470547C= | CA1151524248 | PLEKHG5 | c.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=) | |
1 | g.6470547C>G | CA17236619 | PLEKHG5 | c.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 |
1 | g.6470547C>T | CA561440 | PLEKHG5 | c.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 |
1 | g.6470548G>A | CA17236646 | PLEKHG5 | c.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 |
1 | g.6470548G>C | CA338124759 | PLEKHG5 | c.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) | |
1 | g.6470548G= | CA1151524256 | PLEKHG5 | c.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=) | |
1 | g.6470548G>T | CA338124763 | PLEKHG5 | c.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 |
1 | g.6470549T>A | CA338124764 | PLEKHG5 | c.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) | |
1 | g.6470549T>C | CA338124768 | PLEKHG5 | c.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) | |
1 | g.6470549T>G | CA338124783 | PLEKHG5 | c.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) | |
1 | g.6470550C>A | CA338124789 | PLEKHG5 | c.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 |
1 | g.6470550C= | CA1151524264 | PLEKHG5 | c.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=) | |
1 | g.6470550C>G | CA338124794 | PLEKHG5 | c.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) | |
1 | g.6470550C>T | CA338124793 | PLEKHG5 | c.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 |
1 | g.6470551G>A | CA416022574 | PLEKHG5 | c.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 |
1 | g.6470551G>C | CA338124796 | PLEKHG5 | c.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) | |
1 | g.6470551G= | CA1151524271 | PLEKHG5 | c.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=) | |
1 | g.6470551G>T | CA416022570 | PLEKHG5 | c.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 |
1 | g.6470552A= | CA1151524277 | PLEKHG5 | c.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=) | |
1 | g.6470552A>C | CA338124800 | PLEKHG5 | c.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) | |
1 | g.6470552A>G | CA338124805 | PLEKHG5 | c.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 |
1 | g.6470552A>T | CA338124811 | PLEKHG5 | c.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) | |
1 | g.6470553T>A | CA338124846 | PLEKHG5 | c.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) | |
1 | g.6470553T>C | CA338124864 | PLEKHG5 | c.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) | |
1 | g.6470553T>G | CA338124854 | PLEKHG5 | c.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) | |
1 | g.6470554G>A | CA561441 | PLEKHG5 | c.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 |
1 | g.6470554G>C | CA416022591 | PLEKHG5 | c.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=) | |
1 | g.6470554G= | CA1151524281 | PLEKHG5 | c.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=) | |
1 | g.6470554G>T | CA416022590 | PLEKHG5 | c.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 |
1 | g.6470555C>A | CA338124868 | PLEKHG5 | c.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) | |
1 | g.6470555C= | CA1151524291 | PLEKHG5 | c.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=) | |
1 | g.6470555C>G | CA338124871 | PLEKHG5 | c.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) | |
1 | g.6470555C>T | CA338124878 | PLEKHG5 | c.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 |
1 | g.6470556G>A | CA17236649 | PLEKHG5 | c.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 |
1 | g.6470556G>C | CA338124905 | PLEKHG5 | c.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) | |
1 | g.6470556G= | CA1151524295 | PLEKHG5 | c.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=) | |
1 | g.6470556G>T | CA338124908 | PLEKHG5 | c.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 |
1 | g.6470557G>A | CA416022595 | PLEKHG5 | c.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 |
1 | g.6470557G>C | CA338124928 | PLEKHG5 | c.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) | |
1 | g.6470557G>T | CA338124941 | PLEKHG5 | c.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) | |
1 | g.6470561_6470586del | CA2586963996 | PLEKHG5 | c.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?) | |
1 | g.6470558C>A | CA338124946 | PLEKHG5 | c.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 |
1 | g.6470558C>G | CA338124948 | PLEKHG5 | c.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) | |
1 | g.6470558C>T | CA338124950 | PLEKHG5 | c.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 |
1 | g.6470559T>A | CA338124953 | PLEKHG5 | c.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) | |
1 | g.6470559T>C | CA338124963 | PLEKHG5 | c.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 |
1 | g.6470559T>G | CA338124957 | PLEKHG5 | c.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) | |
1 | g.6470560C>A | CA561442 | PLEKHG5 | c.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 |
1 | g.6470560C= | CA1143499748 | PLEKHG5 | c.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=) | |
1 | g.6470560C>G | CA416022605 | PLEKHG5 | c.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=) | |
1 | g.6470560C>T | CA416022606 | PLEKHG5 | c.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 |
1 | g.6470561A= | CA1151524306 | PLEKHG5 | c.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=) | |
1 | g.6470561A>C | CA17236657 | PLEKHG5 | c.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 |
1 | g.6470561A>G | CA338124970 | PLEKHG5 | c.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) | |
1 | g.6470561A>T | CA338124974 | PLEKHG5 | c.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) | |
1 | g.6470562C>A | CA338124976 | PLEKHG5 | c.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) | |
1 | g.6470562C= | CA1151524312 | PLEKHG5 | c.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=) | |
1 | g.6470562C>G | CA338124980 | PLEKHG5 | c.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) | |
1 | g.6470562C>T | CA338125001 | PLEKHG5 | c.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 |
1 | g.6470563C>A | CA416022612 | PLEKHG5 | c.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=) | |
1 | g.6470563C>G | CA416022617 | PLEKHG5 | c.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=) | |
1 | g.6470563C>T | CA416022615 | PLEKHG5 | c.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 |
1 | g.6470564A>C | CA338125040 | PLEKHG5 | c.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) | |
1 | g.6470564A>G | CA338125055 | PLEKHG5 | c.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 |
1 | g.6470564A>T | CA338125046 | PLEKHG5 | c.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) | |
1 | g.6470565C>A | CA338125080 | PLEKHG5 | c.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 |
1 | g.6470565C= | CA1144157165 | PLEKHG5 | c.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=) | |
1 | g.6470565C>G | CA338125087 | PLEKHG5 | c.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) | |
1 | g.6470565C>T | CA561443 | PLEKHG5 | c.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 |
1 | g.6470566G>A | CA561444 | PLEKHG5 | c.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 |
1 | g.6470566G>C | CA416022624 | PLEKHG5 | c.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 |
1 | g.6470566G= | CA1151524318 | PLEKHG5 | c.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=) | |
1 | g.6470566G>T | CA416022625 | PLEKHG5 | c.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 |
1 | g.6470567G>A | CA338125137 | PLEKHG5 | c.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 |
1 | g.6470567G>C | CA338125139 | PLEKHG5 | c.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) | |
1 | g.6470567G>T | CA338125138 | PLEKHG5 | c.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) | |
1 | g.6470568C>A | CA338125142 | PLEKHG5 | c.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) | |
1 | g.6470568C>G | CA338125144 | PLEKHG5 | c.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) | |
1 | g.6470568C>T | CA338125145 | PLEKHG5 | c.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 |
1 | g.6470569dup | CA645511757 | PLEKHG5 | c.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 |
1 | g.6470569C>A | CA561445 | PLEKHG5 | c.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 |
1 | g.6470569C= | CA1145660793 | PLEKHG5 | c.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=) | |
1 | g.6470569C>G | CA416022632 | PLEKHG5 | c.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 |
1 | g.6470569C>T | CA561446 | PLEKHG5 | c.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 |
1 | g.6470570G>A | CA240587 | PLEKHG5 | c.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 |
1 | g.6470570G>C | CA17236699 | PLEKHG5 | c.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 |
1 | g.6470570G= | CA1143734312 | PLEKHG5 | c.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=) | |
1 | g.6470570G>T | CA338125168 | PLEKHG5 | c.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 |
1 | g.6470571C>A | CA338125172 | PLEKHG5 | c.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) | |
1 | g.6470571C= | CA1151524334 | PLEKHG5 | c.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=) | |
1 | g.6470571C>G | CA338125175 | PLEKHG5 | c.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) | |
1 | g.6470571C>T | CA338125178 | PLEKHG5 | c.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 |
1 | g.6470572C>A | CA561447 | PLEKHG5 | c.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 |
1 | g.6470572C= | CA1151524343 | PLEKHG5 | c.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=) | |
1 | g.6470572C>G | CA416022638 | PLEKHG5 | c.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=) | |
1 | g.6470572C>T | CA416022639 | PLEKHG5 | c.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 |
1 | g.6470572_6470585delinsCAGCCGCTGCCGCT | CA1151524347 | PLEKHG5 | c.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=) | |
1 | g.6470573A= | CA1151524361 | PLEKHG5 | c.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=) | |
1 | g.6470573A>C | CA338125244 | PLEKHG5 | c.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) | |
1 | g.6470573A>G | CA561448 | PLEKHG5 | c.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 |
1 | g.6470573A>T | CA338125225 | PLEKHG5 | c.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 |
1 | g.6470573_6470585del | CA17236701 | PLEKHG5 | c.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 |
1 | g.6470573_6470588delinsAGCCGCTGCCGCTCCT | CA1151524364 | PLEKHG5 | c.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=) | |
1 | g.6470574G>A | CA416022641 | PLEKHG5 | c.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 |
1 | g.6470574G>C | CA338125253 | PLEKHG5 | c.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) | |
1 | g.6470574G>T | CA338125255 | PLEKHG5 | c.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 |
1 | g.6470580_6470585dup | CA2642977021 | PLEKHG5 | c.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 |
1 | g.6470574_6470586del | CA338125259 | PLEKHG5 | c.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) | |
1 | g.6470585_6470599dup | CA521018787 | PLEKHG5 | c.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 |
1 | g.6470585_6470599del | CA913189288 | PLEKHG5 | c.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 |
1 | g.6470575C>A | CA416022647 | PLEKHG5 | c.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=) | |
1 | g.6470575C= | CA1151524377 | PLEKHG5 | c.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=) | |
1 | g.6470575C>G | CA416022648 | PLEKHG5 | c.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=) | |
1 | g.6470575C>T | CA416022649 | PLEKHG5 | c.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 |
1 | g.6470576C>A | CA338125285 | PLEKHG5 | c.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) | |
1 | g.6470576C= | CA1151524381 | PLEKHG5 | c.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=) | |
1 | g.6470576C>G | CA338125267 | PLEKHG5 | c.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 |
1 | g.6470576C>T | CA338125264 | PLEKHG5 | c.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 |
1 | g.6470577G>A | CA338125303 | PLEKHG5 | c.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 |
1 | g.6470577G>C | CA338125307 | PLEKHG5 | c.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 |
1 | g.6470577G= | CA1151524404 | PLEKHG5 | c.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=) | |
1 | g.6470577G>T | CA416022650 | PLEKHG5 | c.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 |
1 | g.6470577_6470586delinsGCTGCCGCTC | CA1151524391 | PLEKHG5 | c.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=) | |
1 | g.6470578C>A | CA338125314 | PLEKHG5 | c.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) | |
1 | g.6470578C>G | CA338125316 | PLEKHG5 | c.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) | |
1 | g.6470578C>T | CA416022653 | PLEKHG5 | c.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=) | |
1 | g.6470586_6470594dup | CA1151524426 | PLEKHG5 | c.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 |
1 | g.6470586_6470594del | CA17236709 | PLEKHG5 | c.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 |
1 | g.6470579T>A | CA338125317 | PLEKHG5 | c.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) | |
1 | g.6470579T>C | CA338125320 | PLEKHG5 | c.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) | |
1 | g.6470579T>G | CA338125327 | PLEKHG5 | c.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 |
1 | g.6470579T= | CA1151524433 | PLEKHG5 | c.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=) | |
1 | g.6470580G>A | CA338125336 | PLEKHG5 | c.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) | |
1 | g.6470580G>C | CA338125345 | PLEKHG5 | c.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) | |
1 | g.6470580G>T | CA338125342 | PLEKHG5 | c.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 |
1 | g.6470581C>A | CA416022665 | PLEKHG5 | c.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=) | |
1 | g.6470581C= | CA1151524439 | PLEKHG5 | c.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=) | |
1 | g.6470581C>G | CA416022667 | PLEKHG5 | c.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=) | |
1 | g.6470581C>T | CA416022668 | PLEKHG5 | c.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 |
1 | g.6470582C>A | CA338125350 | PLEKHG5 | c.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) | |
1 | g.6470582C= | CA1151524444 | PLEKHG5 | c.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=) | |
1 | g.6470582C>G | CA338125365 | PLEKHG5 | c.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) | |
1 | g.6470582C>T | CA561449 | PLEKHG5 | c.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 |
1 | g.6470582_6470585delinsCGCT | CA1151524445 | PLEKHG5 | c.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=) | |
1 | g.6470583G>A | CA17236726 | PLEKHG5 | c.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 |
1 | g.6470583G>C | CA17236734 | PLEKHG5 | c.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 |
1 | g.6470583G= | CA1143512045 | PLEKHG5 | c.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=) | |
1 | g.6470583G>T | CA416022670 | PLEKHG5 | c.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 |
1 | g.6470583_6470585del | CA17236717 | PLEKHG5 | c.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 |
1 | g.6470584C>A | CA561450 | PLEKHG5 | c.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 |
1 | g.6470584C= | CA1151524460 | PLEKHG5 | c.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=) | |
1 | g.6470584C>G | CA338125391 | PLEKHG5 | c.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) | |
1 | g.6470584C>T | CA416022675 | PLEKHG5 | c.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 |
1 | g.6470586_6470588del | CA338125397 | PLEKHG5 | c.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) | |
1 | g.6470585T>A | CA338125402 | PLEKHG5 | c.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) | |
1 | g.6470585T>C | CA17236757 | PLEKHG5 | c.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 |
1 | g.6470585T>G | CA338125405 | PLEKHG5 | c.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) | |
1 | g.6470585T= | CA1143358829 | PLEKHG5 | c.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=) | |
1 | g.6470586C>A | CA338125420 | PLEKHG5 | c.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 |
1 | g.6470586C= | CA1151524469 | PLEKHG5 | c.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=) | |
1 | g.6470586C>G | CA338125410 | PLEKHG5 | c.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) | |
1 | g.6470586C>T | CA338125417 | PLEKHG5 | c.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 |
1 | g.6470587del | CA2574194582 | PLEKHG5 | c.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) | |
1 | g.6470587C>A | CA338125424 | PLEKHG5 | c.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) | |
1 | g.6470587C>G | CA338125430 | PLEKHG5 | c.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 |
1 | g.6470587C>T | CA416022678 | PLEKHG5 | c.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=) | |
1 | g.6470594_6470599dup | CA2580611389 | PLEKHG5 | c.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 |
1 | g.6470588T>A | CA338125445 | PLEKHG5 | c.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) | |
1 | g.6470588T>C | CA338125447 | PLEKHG5 | c.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 |
1 | g.6470588T>G | CA338125449 | PLEKHG5 | c.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) | |
1 | g.6470588_6470597delinsTGCCGCTGCC | CA1151524474 | PLEKHG5 | c.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=) | |
1 | g.6470589G>A | CA338125453 | PLEKHG5 | c.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 |
1 | g.6470589G>C | CA338125462 | PLEKHG5 | c.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) | |
1 | g.6470589G>T | CA338125466 | PLEKHG5 | c.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 |
1 | g.6470591_6470599del | CA1151524478 | PLEKHG5 | c.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 |
1 | g.6470590C>A | CA416022680 | PLEKHG5 | c.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 |
1 | g.6470590C= | CA1151524484 | PLEKHG5 | c.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=) | |
1 | g.6470590C>G | CA416022681 | PLEKHG5 | c.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=) | |
1 | g.6470590C>T | CA561451 | PLEKHG5 | c.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 |
1 | g.6470591C>A | CA338125486 | PLEKHG5 | c.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 |
1 | g.6470591C= | CA1148426744 | PLEKHG5 | c.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=) | |
1 | g.6470591C>G | CA338125487 | PLEKHG5 | c.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) | |
1 | g.6470591C>T | CA561452 | PLEKHG5 | c.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 |
1 | g.6470592G>A | CA561453 | PLEKHG5 | c.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 |
1 | g.6470592G>C | CA338125497 | PLEKHG5 | c.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) | |
1 | g.6470592G= | CA1151524488 | PLEKHG5 | c.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=) | |
1 | g.6470592G>T | CA416022687 | PLEKHG5 | c.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 |
1 | g.6470593C>A | CA338125504 | PLEKHG5 | c.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) | |
1 | g.6470593C>G | CA338125501 | PLEKHG5 | c.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) | |
1 | g.6470593C>T | CA416022690 | PLEKHG5 | c.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 |
1 | g.6470594T>A | CA338125508 | PLEKHG5 | c.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) | |
1 | g.6470594T>C | CA338125519 | PLEKHG5 | c.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) | |
1 | g.6470594T>G | CA338125534 | PLEKHG5 | c.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) | |
1 | g.6470595G>A | CA338125545 | PLEKHG5 | c.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 |
1 | g.6470595G>C | CA338125554 | PLEKHG5 | c.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 |
1 | g.6470595G= | CA1151524492 | PLEKHG5 | c.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=) | |
1 | g.6470595G>T | CA338125564 | PLEKHG5 | c.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 |
1 | g.6470596C>A | CA416022695 | PLEKHG5 | c.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=) | |
1 | g.6470596C>G | CA416022696 | PLEKHG5 | c.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=) | |
1 | g.6470596C>T | CA416022694 | PLEKHG5 | c.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 |
1 | g.6470597C>A | CA338125579 | PLEKHG5 | c.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 |
1 | g.6470597C= | CA1151524497 | PLEKHG5 | c.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=) | |
1 | g.6470597C>G | CA338125576 | PLEKHG5 | c.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) | |
1 | g.6470597C>T | CA338125578 | PLEKHG5 | c.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 |
1 | g.6470598G>A | CA338125580 | PLEKHG5 | c.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 |
1 | g.6470598G>C | CA338125581 | PLEKHG5 | c.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 |
1 | g.6470598G= | CA1151524498 | PLEKHG5 | c.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=) | |
1 | g.6470598G>T | CA416022701 | PLEKHG5 | c.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 |
1 | g.6470599C>A | CA338125586 | PLEKHG5 | c.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) | |
1 | g.6470599C>G | CA338125589 | PLEKHG5 | c.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) | |
1 | g.6470599C>T | CA338125594 | PLEKHG5 | c.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) | |
1 | g.6470600A= | CA1151524509 | PLEKHG5 | c.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=) | |
1 | g.6470600A>C | CA338125609 | PLEKHG5 | c.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) | |
1 | g.6470600A>G | CA338125620 | PLEKHG5 | c.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 |
1 | g.6470600A>T | CA338125619 | PLEKHG5 | c.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) | |
1 | g.6470601T>A | CA338125622 | PLEKHG5 | c.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) | |
1 | g.6470601T>C | CA338125628 | PLEKHG5 | c.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 |
1 | g.6470601T>G | CA338125631 | PLEKHG5 | c.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) | |
1 | g.6470602G>A | CA416022704 | PLEKHG5 | c.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 |
1 | g.6470602G>C | CA338125646 | PLEKHG5 | c.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) | |
1 | g.6470602G>T | CA338125662 | PLEKHG5 | c.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 |
1 | g.6470603C>A | CA338125672 | PLEKHG5 | c.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) | |
1 | g.6470603C>G | CA338125678 | PLEKHG5 | c.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) | |
1 | g.6470603C>T | CA338125679 | PLEKHG5 | c.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 |
1 | g.6470607_6470614del | CA2642977094 | PLEKHG5 | c.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 |
1 | g.6470604A= | CA1151524521 | PLEKHG5 | c.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=) | |
1 | g.6470604A>C | CA338125682 | PLEKHG5 | c.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 |
1 | g.6470604A>G | CA338125683 | PLEKHG5 | c.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 |
1 | g.6470604A>T | CA338125687 | PLEKHG5 | c.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) | |
1 | g.6470605C>A | CA561455 | PLEKHG5 | c.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 |
1 | g.6470605C= | CA1151524525 | PLEKHG5 | c.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=) | |
1 | g.6470605C>G | CA416022706 | PLEKHG5 | c.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=) | |
1 | g.6470605C>T | CA561454 | PLEKHG5 | c.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 |
1 | g.6470606G>A | CA561456 | PLEKHG5 | c.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 |
1 | g.6470606G>C | CA338125709 | PLEKHG5 | c.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) | |
1 | g.6470606G= | CA1151524544 | PLEKHG5 | c.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=) | |
1 | g.6470606G>T | CA338125699 | PLEKHG5 | c.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 |
1 | g.6470607C>A | CA338125741 | PLEKHG5 | c.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) | |
1 | g.6470607C>G | CA338125747 | PLEKHG5 | c.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) | |
1 | g.6470607C>T | CA338125753 | PLEKHG5 | c.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 |
1 | g.6470608G>A | CA17236848 | PLEKHG5 | c.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 |
1 | g.6470608G>C | CA338125756 | PLEKHG5 | c.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 |
1 | g.6470608G= | CA1151524549 | PLEKHG5 | c.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=) | |
1 | g.6470608G>T | CA338125766 | PLEKHG5 | c.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 |
1 | g.6470609T>A | CA338125769 | PLEKHG5 | c.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) | |
1 | g.6470609T>C | CA338125778 | PLEKHG5 | c.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) | |
1 | g.6470609T>G | CA338125782 | PLEKHG5 | c.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) | |
1 | g.6470610T>A | CA338125784 | PLEKHG5 | c.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) | |
1 | g.6470610T>C | CA561457 | PLEKHG5 | c.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 |
1 | g.6470610T>G | CA338125787 | PLEKHG5 | c.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) | |
1 | g.6470610T= | CA1151524584 | PLEKHG5 | c.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=) |