Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.151408445_151408447delCA2586964182POGZc.2244_2246del (p.Val749del)
c.2037_2039del (p.Val680del)
c.2196_2198del (p.Val733del)
c.2217_2219del (p.Val740del)
n.2065_2067del
c.1911_1913del (p.Val638del)
c.2169_2171del (p.Val724del)
c.2064_2066del (p.Val689del)
n.107_109del
c.396_398del (p.Val133del)
c.2010_2012del (p.Val671del)
c.2088_2090del (p.Val697del)
c.1839_1841del (p.Val614del)
n.2063-207_2063-205del
c.2070_2072del (p.Val691del)
c.996_998del (p.Val333del)
n.2090-207_2090-205del
1g.151408446_151408448delinsCAGCA2479571489POGZc.2243_2245delinsCTG (p.Pro748=)
c.2036_2038delinsCTG (p.Pro679=)
c.2195_2197delinsCTG (p.Pro732=)
c.2216_2218delinsCTG (p.Pro739=)
n.2064_2066delinsCTG
c.1910_1912delinsCTG (p.Pro637=)
c.2168_2170delinsCTG (p.Pro723=)
c.2063_2065delinsCTG (p.Pro688=)
n.106_108delinsCTG
c.395_397delinsCTG (p.Pro132=)
c.2009_2011delinsCTG (p.Pro670=)
c.2087_2089delinsCTG (p.Pro696=)
c.1838_1840delinsCTG (p.Pro613=)
n.2063-208_2063-206delinsCTG
c.2069_2071delinsCTG (p.Pro690=)
c.995_997delinsCTG (p.Pro332=)
n.2090-208_2090-206delinsCTG
1g.151408447A>CCA420910082POGZc.2244T>G (p.Pro748=)
c.2037T>G (p.Pro679=)
c.2196T>G (p.Pro732=)
c.2217T>G (p.Pro739=)
n.2065T>G
c.1911T>G (p.Pro637=)
c.2169T>G (p.Pro723=)
c.2064T>G (p.Pro688=)
n.107T>G
c.396T>G (p.Pro132=)
c.2010T>G (p.Pro670=)
c.2088T>G (p.Pro696=)
c.1839T>G (p.Pro613=)
n.2063-207T>G
c.2070T>G (p.Pro690=)
c.996T>G (p.Pro332=)
n.2090-207T>G
1g.151408447A>GCA420910083POGZc.2244T>C (p.Pro748=)
c.2037T>C (p.Pro679=)
c.2196T>C (p.Pro732=)
c.2217T>C (p.Pro739=)
n.2065T>C
c.1911T>C (p.Pro637=)
c.2169T>C (p.Pro723=)
c.2064T>C (p.Pro688=)
n.107T>C
c.396T>C (p.Pro132=)
c.2010T>C (p.Pro670=)
c.2088T>C (p.Pro696=)
c.1839T>C (p.Pro613=)
n.2063-207T>C
c.2070T>C (p.Pro690=)
c.996T>C (p.Pro332=)
n.2090-207T>C
1g.151408447A>TCA420910084POGZc.2244T>A (p.Pro748=)
c.2037T>A (p.Pro679=)
c.2196T>A (p.Pro732=)
c.2217T>A (p.Pro739=)
n.2065T>A
c.1911T>A (p.Pro637=)
c.2169T>A (p.Pro723=)
c.2064T>A (p.Pro688=)
n.107T>A
c.396T>A (p.Pro132=)
c.2010T>A (p.Pro670=)
c.2088T>A (p.Pro696=)
c.1839T>A (p.Pro613=)
n.2063-207T>A
c.2070T>A (p.Pro690=)
c.996T>A (p.Pro332=)
n.2090-207T>A
1g.151408447_151408448delCA319619POGZc.2243_2244del (p.Pro748ArgfsTer11)
c.2036_2037del (p.Pro679ArgfsTer11)
c.2195_2196del (p.Pro732ArgfsTer11)
c.2216_2217del (p.Pro739ArgfsTer11)
n.2064_2065del
c.1910_1911del (p.Pro637ArgfsTer11)
c.2168_2169del (p.Pro723ArgfsTer11)
c.2063_2064del (p.Pro688ArgfsTer11)
n.106_107del
c.395_396del (p.Pro132ArgfsTer11)
c.2009_2010del (p.Pro670ArgfsTer11)
c.2087_2088del (p.Pro696ArgfsTer11)
c.1838_1839del (p.Pro613ArgfsTer11)
n.2063-208_2063-207del
c.2069_2070del (p.Pro690ArgfsTer11)
c.995_996del (p.Pro332ArgfsTer11)
n.2090-208_2090-207del
 ClinVar dbSNP
1g.151408448G>ACA341956344POGZc.2243C>T (p.Pro748Leu)
c.2036C>T (p.Pro679Leu)
c.2195C>T (p.Pro732Leu)
c.2216C>T (p.Pro739Leu)
n.2064C>T
c.1910C>T (p.Pro637Leu)
c.2168C>T (p.Pro723Leu)
c.2063C>T (p.Pro688Leu)
n.106C>T
c.395C>T (p.Pro132Leu)
c.2009C>T (p.Pro670Leu)
c.2087C>T (p.Pro696Leu)
c.1838C>T (p.Pro613Leu)
n.2063-208C>T
c.2069C>T (p.Pro690Leu)
c.995C>T (p.Pro332Leu)
n.2090-208C>T
 dbSNP gnomAD v4
1g.151408448G>CCA341956345POGZc.2243C>G (p.Pro748Arg)
c.2036C>G (p.Pro679Arg)
c.2195C>G (p.Pro732Arg)
c.2216C>G (p.Pro739Arg)
n.2064C>G
c.1910C>G (p.Pro637Arg)
c.2168C>G (p.Pro723Arg)
c.2063C>G (p.Pro688Arg)
n.106C>G
c.395C>G (p.Pro132Arg)
c.2009C>G (p.Pro670Arg)
c.2087C>G (p.Pro696Arg)
c.1838C>G (p.Pro613Arg)
n.2063-208C>G
c.2069C>G (p.Pro690Arg)
c.995C>G (p.Pro332Arg)
n.2090-208C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.151408448G=CA2479571490POGZc.2243C= (p.Pro748=)
c.2036C= (p.Pro679=)
c.2195C= (p.Pro732=)
c.2216C= (p.Pro739=)
n.2064C=
c.1910C= (p.Pro637=)
c.2168C= (p.Pro723=)
c.2063C= (p.Pro688=)
n.106C=
c.395C= (p.Pro132=)
c.2009C= (p.Pro670=)
c.2087C= (p.Pro696=)
c.1838C= (p.Pro613=)
n.2063-208C=
c.2069C= (p.Pro690=)
c.995C= (p.Pro332=)
n.2090-208C=
1g.151408448G>TCA341956347POGZc.2243C>A (p.Pro748His)
c.2036C>A (p.Pro679His)
c.2195C>A (p.Pro732His)
c.2216C>A (p.Pro739His)
n.2064C>A
c.1910C>A (p.Pro637His)
c.2168C>A (p.Pro723His)
c.2063C>A (p.Pro688His)
n.106C>A
c.395C>A (p.Pro132His)
c.2009C>A (p.Pro670His)
c.2087C>A (p.Pro696His)
c.1838C>A (p.Pro613His)
n.2063-208C>A
c.2069C>A (p.Pro690His)
c.995C>A (p.Pro332His)
n.2090-208C>A
 gnomAD v4 COSMIC COSMIC
1g.151408452delCA2647921110POGZc.2243del (p.Pro748LeufsTer14)
c.2036del (p.Pro679LeufsTer14)
c.2195del (p.Pro732LeufsTer14)
c.2216del (p.Pro739LeufsTer14)
n.2064del
c.1910del (p.Pro637LeufsTer14)
c.2168del (p.Pro723LeufsTer14)
c.2063del (p.Pro688LeufsTer14)
n.106del
c.395del (p.Pro132LeufsTer14)
c.2009del (p.Pro670LeufsTer14)
c.2087del (p.Pro696LeufsTer14)
c.1838del (p.Pro613LeufsTer14)
n.2063-208del
c.2069del (p.Pro690LeufsTer14)
c.995del (p.Pro332LeufsTer14)
n.2090-208del
 gnomAD v4
1g.151408449G>ACA341956349POGZc.2242C>T (p.Pro748Ser)
c.2035C>T (p.Pro679Ser)
c.2194C>T (p.Pro732Ser)
c.2215C>T (p.Pro739Ser)
n.2063C>T
c.1909C>T (p.Pro637Ser)
c.2167C>T (p.Pro723Ser)
c.2062C>T (p.Pro688Ser)
n.105C>T
c.394C>T (p.Pro132Ser)
c.2008C>T (p.Pro670Ser)
c.2086C>T (p.Pro696Ser)
c.1837C>T (p.Pro613Ser)
n.2063-209C>T
c.2068C>T (p.Pro690Ser)
c.994C>T (p.Pro332Ser)
n.2090-209C>T
 COSMIC COSMIC
1g.151408449G>CCA341956351POGZc.2242C>G (p.Pro748Ala)
c.2035C>G (p.Pro679Ala)
c.2194C>G (p.Pro732Ala)
c.2215C>G (p.Pro739Ala)
n.2063C>G
c.1909C>G (p.Pro637Ala)
c.2167C>G (p.Pro723Ala)
c.2062C>G (p.Pro688Ala)
n.105C>G
c.394C>G (p.Pro132Ala)
c.2008C>G (p.Pro670Ala)
c.2086C>G (p.Pro696Ala)
c.1837C>G (p.Pro613Ala)
n.2063-209C>G
c.2068C>G (p.Pro690Ala)
c.994C>G (p.Pro332Ala)
n.2090-209C>G
1g.151408449G>TCA341956352POGZc.2242C>A (p.Pro748Thr)
c.2035C>A (p.Pro679Thr)
c.2194C>A (p.Pro732Thr)
c.2215C>A (p.Pro739Thr)
n.2063C>A
c.1909C>A (p.Pro637Thr)
c.2167C>A (p.Pro723Thr)
c.2062C>A (p.Pro688Thr)
n.105C>A
c.394C>A (p.Pro132Thr)
c.2008C>A (p.Pro670Thr)
c.2086C>A (p.Pro696Thr)
c.1837C>A (p.Pro613Thr)
n.2063-209C>A
c.2068C>A (p.Pro690Thr)
c.994C>A (p.Pro332Thr)
n.2090-209C>A
 gnomAD v4
1g.151408450G>ACA420910092POGZc.2241C>T (p.Pro747=)
c.2034C>T (p.Pro678=)
c.2193C>T (p.Pro731=)
c.2214C>T (p.Pro738=)
n.2062C>T
c.1908C>T (p.Pro636=)
c.2166C>T (p.Pro722=)
c.2061C>T (p.Pro687=)
n.104C>T
c.393C>T (p.Pro131=)
c.2007C>T (p.Pro669=)
c.2085C>T (p.Pro695=)
c.1836C>T (p.Pro612=)
n.2063-210C>T
c.2067C>T (p.Pro689=)
c.993C>T (p.Pro331=)
n.2090-210C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151408450G>CCA1091247POGZc.2241C>G (p.Pro747=)
c.2034C>G (p.Pro678=)
c.2193C>G (p.Pro731=)
c.2214C>G (p.Pro738=)
n.2062C>G
c.1908C>G (p.Pro636=)
c.2166C>G (p.Pro722=)
c.2061C>G (p.Pro687=)
n.104C>G
c.393C>G (p.Pro131=)
c.2007C>G (p.Pro669=)
c.2085C>G (p.Pro695=)
c.1836C>G (p.Pro612=)
n.2063-210C>G
c.2067C>G (p.Pro689=)
c.993C>G (p.Pro331=)
n.2090-210C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151408450G=CA2479571491POGZc.2241C= (p.Pro747=)
c.2034C= (p.Pro678=)
c.2193C= (p.Pro731=)
c.2214C= (p.Pro738=)
n.2062C=
c.1908C= (p.Pro636=)
c.2166C= (p.Pro722=)
c.2061C= (p.Pro687=)
n.104C=
c.393C= (p.Pro131=)
c.2007C= (p.Pro669=)
c.2085C= (p.Pro695=)
c.1836C= (p.Pro612=)
n.2063-210C=
c.2067C= (p.Pro689=)
c.993C= (p.Pro331=)
n.2090-210C=
1g.151408450G>TCA420910090POGZc.2241C>A (p.Pro747=)
c.2034C>A (p.Pro678=)
c.2193C>A (p.Pro731=)
c.2214C>A (p.Pro738=)
n.2062C>A
c.1908C>A (p.Pro636=)
c.2166C>A (p.Pro722=)
c.2061C>A (p.Pro687=)
n.104C>A
c.393C>A (p.Pro131=)
c.2007C>A (p.Pro669=)
c.2085C>A (p.Pro695=)
c.1836C>A (p.Pro612=)
n.2063-210C>A
c.2067C>A (p.Pro689=)
c.993C>A (p.Pro331=)
n.2090-210C>A
1g.151408451G>ACA341956357POGZc.2240C>T (p.Pro747Leu)
c.2033C>T (p.Pro678Leu)
c.2192C>T (p.Pro731Leu)
c.2213C>T (p.Pro738Leu)
n.2061C>T
c.1907C>T (p.Pro636Leu)
c.2165C>T (p.Pro722Leu)
c.2060C>T (p.Pro687Leu)
n.103C>T
c.392C>T (p.Pro131Leu)
c.2006C>T (p.Pro669Leu)
c.2084C>T (p.Pro695Leu)
c.1835C>T (p.Pro612Leu)
n.2063-211C>T
c.2066C>T (p.Pro689Leu)
c.992C>T (p.Pro331Leu)
n.2090-211C>T
1g.151408451G>CCA341956359POGZc.2240C>G (p.Pro747Arg)
c.2033C>G (p.Pro678Arg)
c.2192C>G (p.Pro731Arg)
c.2213C>G (p.Pro738Arg)
n.2061C>G
c.1907C>G (p.Pro636Arg)
c.2165C>G (p.Pro722Arg)
c.2060C>G (p.Pro687Arg)
n.103C>G
c.392C>G (p.Pro131Arg)
c.2006C>G (p.Pro669Arg)
c.2084C>G (p.Pro695Arg)
c.1835C>G (p.Pro612Arg)
n.2063-211C>G
c.2066C>G (p.Pro689Arg)
c.992C>G (p.Pro331Arg)
n.2090-211C>G
 dbSNP gnomAD v2 gnomAD v4
1g.151408451G=CA2479571492POGZc.2240C= (p.Pro747=)
c.2033C= (p.Pro678=)
c.2192C= (p.Pro731=)
c.2213C= (p.Pro738=)
n.2061C=
c.1907C= (p.Pro636=)
c.2165C= (p.Pro722=)
c.2060C= (p.Pro687=)
n.103C=
c.392C= (p.Pro131=)
c.2006C= (p.Pro669=)
c.2084C= (p.Pro695=)
c.1835C= (p.Pro612=)
n.2063-211C=
c.2066C= (p.Pro689=)
c.992C= (p.Pro331=)
n.2090-211C=
1g.151408451G>TCA341956355POGZc.2240C>A (p.Pro747His)
c.2033C>A (p.Pro678His)
c.2192C>A (p.Pro731His)
c.2213C>A (p.Pro738His)
n.2061C>A
c.1907C>A (p.Pro636His)
c.2165C>A (p.Pro722His)
c.2060C>A (p.Pro687His)
n.103C>A
c.392C>A (p.Pro131His)
c.2006C>A (p.Pro669His)
c.2084C>A (p.Pro695His)
c.1835C>A (p.Pro612His)
n.2063-211C>A
c.2066C>A (p.Pro689His)
c.992C>A (p.Pro331His)
n.2090-211C>A
1g.151408452G>ACA341956365POGZc.2239C>T (p.Pro747Ser)
c.2032C>T (p.Pro678Ser)
c.2191C>T (p.Pro731Ser)
c.2212C>T (p.Pro738Ser)
n.2060C>T
c.1906C>T (p.Pro636Ser)
c.2164C>T (p.Pro722Ser)
c.2059C>T (p.Pro687Ser)
n.102C>T
c.391C>T (p.Pro131Ser)
c.2005C>T (p.Pro669Ser)
c.2083C>T (p.Pro695Ser)
c.1834C>T (p.Pro612Ser)
n.2063-212C>T
c.2065C>T (p.Pro689Ser)
c.991C>T (p.Pro331Ser)
n.2090-212C>T
1g.151408452G>CCA341956361POGZc.2239C>G (p.Pro747Ala)
c.2032C>G (p.Pro678Ala)
c.2191C>G (p.Pro731Ala)
c.2212C>G (p.Pro738Ala)
n.2060C>G
c.1906C>G (p.Pro636Ala)
c.2164C>G (p.Pro722Ala)
c.2059C>G (p.Pro687Ala)
n.102C>G
c.391C>G (p.Pro131Ala)
c.2005C>G (p.Pro669Ala)
c.2083C>G (p.Pro695Ala)
c.1834C>G (p.Pro612Ala)
n.2063-212C>G
c.2065C>G (p.Pro689Ala)
c.991C>G (p.Pro331Ala)
n.2090-212C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151408452G=CA2479571493POGZc.2239C= (p.Pro747=)
c.2032C= (p.Pro678=)
c.2191C= (p.Pro731=)
c.2212C= (p.Pro738=)
n.2060C=
c.1906C= (p.Pro636=)
c.2164C= (p.Pro722=)
c.2059C= (p.Pro687=)
n.102C=
c.391C= (p.Pro131=)
c.2005C= (p.Pro669=)
c.2083C= (p.Pro695=)
c.1834C= (p.Pro612=)
n.2063-212C=
c.2065C= (p.Pro689=)
c.991C= (p.Pro331=)
n.2090-212C=
1g.151408452G>TCA341956363POGZc.2239C>A (p.Pro747Thr)
c.2032C>A (p.Pro678Thr)
c.2191C>A (p.Pro731Thr)
c.2212C>A (p.Pro738Thr)
n.2060C>A
c.1906C>A (p.Pro636Thr)
c.2164C>A (p.Pro722Thr)
c.2059C>A (p.Pro687Thr)
n.102C>A
c.391C>A (p.Pro131Thr)
c.2005C>A (p.Pro669Thr)
c.2083C>A (p.Pro695Thr)
c.1834C>A (p.Pro612Thr)
n.2063-212C>A
c.2065C>A (p.Pro689Thr)
c.991C>A (p.Pro331Thr)
n.2090-212C>A
1g.151408453A>CCA341956366POGZc.2238T>G (p.Tyr746Ter)
c.2031T>G (p.Tyr677Ter)
c.2190T>G (p.Tyr730Ter)
c.2211T>G (p.Tyr737Ter)
n.2059T>G
c.1905T>G (p.Tyr635Ter)
c.2163T>G (p.Tyr721Ter)
c.2058T>G (p.Tyr686Ter)
n.101T>G
c.390T>G (p.Tyr130Ter)
c.2004T>G (p.Tyr668Ter)
c.2082T>G (p.Tyr694Ter)
c.1833T>G (p.Tyr611Ter)
n.2063-213T>G
c.2064T>G (p.Tyr688Ter)
c.990T>G (p.Tyr330Ter)
n.2090-213T>G
1g.151408453A>GCA420910094POGZc.2238T>C (p.Tyr746=)
c.2031T>C (p.Tyr677=)
c.2190T>C (p.Tyr730=)
c.2211T>C (p.Tyr737=)
n.2059T>C
c.1905T>C (p.Tyr635=)
c.2163T>C (p.Tyr721=)
c.2058T>C (p.Tyr686=)
n.101T>C
c.390T>C (p.Tyr130=)
c.2004T>C (p.Tyr668=)
c.2082T>C (p.Tyr694=)
c.1833T>C (p.Tyr611=)
n.2063-213T>C
c.2064T>C (p.Tyr688=)
c.990T>C (p.Tyr330=)
n.2090-213T>C
 gnomAD v4
1g.151408453A>TCA341956367POGZc.2238T>A (p.Tyr746Ter)
c.2031T>A (p.Tyr677Ter)
c.2190T>A (p.Tyr730Ter)
c.2211T>A (p.Tyr737Ter)
n.2059T>A
c.1905T>A (p.Tyr635Ter)
c.2163T>A (p.Tyr721Ter)
c.2058T>A (p.Tyr686Ter)
n.101T>A
c.390T>A (p.Tyr130Ter)
c.2004T>A (p.Tyr668Ter)
c.2082T>A (p.Tyr694Ter)
c.1833T>A (p.Tyr611Ter)
n.2063-213T>A
c.2064T>A (p.Tyr688Ter)
c.990T>A (p.Tyr330Ter)
n.2090-213T>A
1g.151408453_151408455delinsATACA2479571494POGZc.2236_2238delinsTAT (p.Tyr746=)
c.2029_2031delinsTAT (p.Tyr677=)
c.2188_2190delinsTAT (p.Tyr730=)
c.2209_2211delinsTAT (p.Tyr737=)
n.2057_2059delinsTAT
c.1903_1905delinsTAT (p.Tyr635=)
c.2161_2163delinsTAT (p.Tyr721=)
c.2056_2058delinsTAT (p.Tyr686=)
n.99_101delinsTAT
c.388_390delinsTAT (p.Tyr130=)
c.2002_2004delinsTAT (p.Tyr668=)
c.2080_2082delinsTAT (p.Tyr694=)
c.1831_1833delinsTAT (p.Tyr611=)
n.2063-215_2063-213delinsTAT
c.2062_2064delinsTAT (p.Tyr688=)
c.988_990delinsTAT (p.Tyr330=)
n.2090-215_2090-213delinsTAT
1g.151408453_151408455delinsTTTCA915941417POGZc.2236_2238delinsAAA (p.Tyr746Lys)
c.2029_2031delinsAAA (p.Tyr677Lys)
c.2188_2190delinsAAA (p.Tyr730Lys)
c.2209_2211delinsAAA (p.Tyr737Lys)
n.2057_2059delinsAAA
c.1903_1905delinsAAA (p.Tyr635Lys)
c.2161_2163delinsAAA (p.Tyr721Lys)
c.2056_2058delinsAAA (p.Tyr686Lys)
n.99_101delinsAAA
c.388_390delinsAAA (p.Tyr130Lys)
c.2002_2004delinsAAA (p.Tyr668Lys)
c.2080_2082delinsAAA (p.Tyr694Lys)
c.1831_1833delinsAAA (p.Tyr611Lys)
n.2063-215_2063-213delinsAAA
c.2062_2064delinsAAA (p.Tyr688Lys)
c.988_990delinsAAA (p.Tyr330Lys)
n.2090-215_2090-213delinsAAA
 ClinVar dbSNP
1g.151408454T>ACA341956370POGZc.2237A>T (p.Tyr746Phe)
c.2030A>T (p.Tyr677Phe)
c.2189A>T (p.Tyr730Phe)
c.2210A>T (p.Tyr737Phe)
n.2058A>T
c.1904A>T (p.Tyr635Phe)
c.2162A>T (p.Tyr721Phe)
c.2057A>T (p.Tyr686Phe)
n.100A>T
c.389A>T (p.Tyr130Phe)
c.2003A>T (p.Tyr668Phe)
c.2081A>T (p.Tyr694Phe)
c.1832A>T (p.Tyr611Phe)
n.2063-214A>T
c.2063A>T (p.Tyr688Phe)
c.989A>T (p.Tyr330Phe)
n.2090-214A>T
1g.151408454T>CCA1091248POGZc.2237A>G (p.Tyr746Cys)
c.2030A>G (p.Tyr677Cys)
c.2189A>G (p.Tyr730Cys)
c.2210A>G (p.Tyr737Cys)
n.2058A>G
c.1904A>G (p.Tyr635Cys)
c.2162A>G (p.Tyr721Cys)
c.2057A>G (p.Tyr686Cys)
n.100A>G
c.389A>G (p.Tyr130Cys)
c.2003A>G (p.Tyr668Cys)
c.2081A>G (p.Tyr694Cys)
c.1832A>G (p.Tyr611Cys)
n.2063-214A>G
c.2063A>G (p.Tyr688Cys)
c.989A>G (p.Tyr330Cys)
n.2090-214A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151408454T>GCA341956373POGZc.2237A>C (p.Tyr746Ser)
c.2030A>C (p.Tyr677Ser)
c.2189A>C (p.Tyr730Ser)
c.2210A>C (p.Tyr737Ser)
n.2058A>C
c.1904A>C (p.Tyr635Ser)
c.2162A>C (p.Tyr721Ser)
c.2057A>C (p.Tyr686Ser)
n.100A>C
c.389A>C (p.Tyr130Ser)
c.2003A>C (p.Tyr668Ser)
c.2081A>C (p.Tyr694Ser)
c.1832A>C (p.Tyr611Ser)
n.2063-214A>C
c.2063A>C (p.Tyr688Ser)
c.989A>C (p.Tyr330Ser)
n.2090-214A>C
1g.151408454T=CA2479571495POGZc.2237A= (p.Tyr746=)
c.2030A= (p.Tyr677=)
c.2189A= (p.Tyr730=)
c.2210A= (p.Tyr737=)
n.2058A=
c.1904A= (p.Tyr635=)
c.2162A= (p.Tyr721=)
c.2057A= (p.Tyr686=)
n.100A=
c.389A= (p.Tyr130=)
c.2003A= (p.Tyr668=)
c.2081A= (p.Tyr694=)
c.1832A= (p.Tyr611=)
n.2063-214A=
c.2063A= (p.Tyr688=)
c.989A= (p.Tyr330=)
n.2090-214A=
1g.151408455A>CCA341956375POGZc.2236T>G (p.Tyr746Asp)
c.2029T>G (p.Tyr677Asp)
c.2188T>G (p.Tyr730Asp)
c.2209T>G (p.Tyr737Asp)
n.2057T>G
c.1903T>G (p.Tyr635Asp)
c.2161T>G (p.Tyr721Asp)
c.2056T>G (p.Tyr686Asp)
n.99T>G
c.388T>G (p.Tyr130Asp)
c.2002T>G (p.Tyr668Asp)
c.2080T>G (p.Tyr694Asp)
c.1831T>G (p.Tyr611Asp)
n.2063-215T>G
c.2062T>G (p.Tyr688Asp)
c.988T>G (p.Tyr330Asp)
n.2090-215T>G
1g.151408455A>GCA341956378POGZc.2236T>C (p.Tyr746His)
c.2029T>C (p.Tyr677His)
c.2188T>C (p.Tyr730His)
c.2209T>C (p.Tyr737His)
n.2057T>C
c.1903T>C (p.Tyr635His)
c.2161T>C (p.Tyr721His)
c.2056T>C (p.Tyr686His)
n.99T>C
c.388T>C (p.Tyr130His)
c.2002T>C (p.Tyr668His)
c.2080T>C (p.Tyr694His)
c.1831T>C (p.Tyr611His)
n.2063-215T>C
c.2062T>C (p.Tyr688His)
c.988T>C (p.Tyr330His)
n.2090-215T>C
1g.151408455A>TCA341956380POGZc.2236T>A (p.Tyr746Asn)
c.2029T>A (p.Tyr677Asn)
c.2188T>A (p.Tyr730Asn)
c.2209T>A (p.Tyr737Asn)
n.2057T>A
c.1903T>A (p.Tyr635Asn)
c.2161T>A (p.Tyr721Asn)
c.2056T>A (p.Tyr686Asn)
n.99T>A
c.388T>A (p.Tyr130Asn)
c.2002T>A (p.Tyr668Asn)
c.2080T>A (p.Tyr694Asn)
c.1831T>A (p.Tyr611Asn)
n.2063-215T>A
c.2062T>A (p.Tyr688Asn)
c.988T>A (p.Tyr330Asn)
n.2090-215T>A
1g.151408456A=CA2479571496POGZc.2235T= (p.Leu745=)
c.2028T= (p.Leu676=)
c.2187T= (p.Leu729=)
c.2208T= (p.Leu736=)
n.2056T=
c.1902T= (p.Leu634=)
c.2160T= (p.Leu720=)
c.2055T= (p.Leu685=)
n.98T=
c.387T= (p.Leu129=)
c.2001T= (p.Leu667=)
c.2079T= (p.Leu693=)
c.1830T= (p.Leu610=)
n.2063-216T=
c.2061T= (p.Leu687=)
c.987T= (p.Leu329=)
n.2090-216T=
1g.151408456A>CCA420910098POGZc.2235T>G (p.Leu745=)
c.2028T>G (p.Leu676=)
c.2187T>G (p.Leu729=)
c.2208T>G (p.Leu736=)
n.2056T>G
c.1902T>G (p.Leu634=)
c.2160T>G (p.Leu720=)
c.2055T>G (p.Leu685=)
n.98T>G
c.387T>G (p.Leu129=)
c.2001T>G (p.Leu667=)
c.2079T>G (p.Leu693=)
c.1830T>G (p.Leu610=)
n.2063-216T>G
c.2061T>G (p.Leu687=)
c.987T>G (p.Leu329=)
n.2090-216T>G
 dbSNP gnomAD v3 gnomAD v4
1g.151408456A>GCA420910100POGZc.2235T>C (p.Leu745=)
c.2028T>C (p.Leu676=)
c.2187T>C (p.Leu729=)
c.2208T>C (p.Leu736=)
n.2056T>C
c.1902T>C (p.Leu634=)
c.2160T>C (p.Leu720=)
c.2055T>C (p.Leu685=)
n.98T>C
c.387T>C (p.Leu129=)
c.2001T>C (p.Leu667=)
c.2079T>C (p.Leu693=)
c.1830T>C (p.Leu610=)
n.2063-216T>C
c.2061T>C (p.Leu687=)
c.987T>C (p.Leu329=)
n.2090-216T>C
1g.151408456A>TCA420910102POGZc.2235T>A (p.Leu745=)
c.2028T>A (p.Leu676=)
c.2187T>A (p.Leu729=)
c.2208T>A (p.Leu736=)
n.2056T>A
c.1902T>A (p.Leu634=)
c.2160T>A (p.Leu720=)
c.2055T>A (p.Leu685=)
n.98T>A
c.387T>A (p.Leu129=)
c.2001T>A (p.Leu667=)
c.2079T>A (p.Leu693=)
c.1830T>A (p.Leu610=)
n.2063-216T>A
c.2061T>A (p.Leu687=)
c.987T>A (p.Leu329=)
n.2090-216T>A
1g.151408457A>CCA341956382POGZc.2234T>G (p.Leu745Arg)
c.2027T>G (p.Leu676Arg)
c.2186T>G (p.Leu729Arg)
c.2207T>G (p.Leu736Arg)
n.2055T>G
c.1901T>G (p.Leu634Arg)
c.2159T>G (p.Leu720Arg)
c.2054T>G (p.Leu685Arg)
n.97T>G
c.386T>G (p.Leu129Arg)
c.2000T>G (p.Leu667Arg)
c.2078T>G (p.Leu693Arg)
c.1829T>G (p.Leu610Arg)
n.2063-217T>G
c.2060T>G (p.Leu687Arg)
c.986T>G (p.Leu329Arg)
n.2090-217T>G
1g.151408457A>GCA341956384POGZc.2234T>C (p.Leu745Pro)
c.2027T>C (p.Leu676Pro)
c.2186T>C (p.Leu729Pro)
c.2207T>C (p.Leu736Pro)
n.2055T>C
c.1901T>C (p.Leu634Pro)
c.2159T>C (p.Leu720Pro)
c.2054T>C (p.Leu685Pro)
n.97T>C
c.386T>C (p.Leu129Pro)
c.2000T>C (p.Leu667Pro)
c.2078T>C (p.Leu693Pro)
c.1829T>C (p.Leu610Pro)
n.2063-217T>C
c.2060T>C (p.Leu687Pro)
c.986T>C (p.Leu329Pro)
n.2090-217T>C
1g.151408457A>TCA341956386POGZc.2234T>A (p.Leu745His)
c.2027T>A (p.Leu676His)
c.2186T>A (p.Leu729His)
c.2207T>A (p.Leu736His)
n.2055T>A
c.1901T>A (p.Leu634His)
c.2159T>A (p.Leu720His)
c.2054T>A (p.Leu685His)
n.97T>A
c.386T>A (p.Leu129His)
c.2000T>A (p.Leu667His)
c.2078T>A (p.Leu693His)
c.1829T>A (p.Leu610His)
n.2063-217T>A
c.2060T>A (p.Leu687His)
c.986T>A (p.Leu329His)
n.2090-217T>A
1g.151408458G>ACA341956389POGZc.2233C>T (p.Leu745Phe)
c.2026C>T (p.Leu676Phe)
c.2185C>T (p.Leu729Phe)
c.2206C>T (p.Leu736Phe)
n.2054C>T
c.1900C>T (p.Leu634Phe)
c.2158C>T (p.Leu720Phe)
c.2053C>T (p.Leu685Phe)
n.96C>T
c.385C>T (p.Leu129Phe)
c.1999C>T (p.Leu667Phe)
c.2077C>T (p.Leu693Phe)
c.1828C>T (p.Leu610Phe)
n.2063-218C>T
c.2059C>T (p.Leu687Phe)
c.985C>T (p.Leu329Phe)
n.2090-218C>T
1g.151408458G>CCA341956392POGZc.2233C>G (p.Leu745Val)
c.2026C>G (p.Leu676Val)
c.2185C>G (p.Leu729Val)
c.2206C>G (p.Leu736Val)
n.2054C>G
c.1900C>G (p.Leu634Val)
c.2158C>G (p.Leu720Val)
c.2053C>G (p.Leu685Val)
n.96C>G
c.385C>G (p.Leu129Val)
c.1999C>G (p.Leu667Val)
c.2077C>G (p.Leu693Val)
c.1828C>G (p.Leu610Val)
n.2063-218C>G
c.2059C>G (p.Leu687Val)
c.985C>G (p.Leu329Val)
n.2090-218C>G
1g.151408458G>TCA341956390POGZc.2233C>A (p.Leu745Ile)
c.2026C>A (p.Leu676Ile)
c.2185C>A (p.Leu729Ile)
c.2206C>A (p.Leu736Ile)
n.2054C>A
c.1900C>A (p.Leu634Ile)
c.2158C>A (p.Leu720Ile)
c.2053C>A (p.Leu685Ile)
n.96C>A
c.385C>A (p.Leu129Ile)
c.1999C>A (p.Leu667Ile)
c.2077C>A (p.Leu693Ile)
c.1828C>A (p.Leu610Ile)
n.2063-218C>A
c.2059C>A (p.Leu687Ile)
c.985C>A (p.Leu329Ile)
n.2090-218C>A
1g.151408459G>ACA420910104POGZc.2232C>T (p.Phe744=)
c.2025C>T (p.Phe675=)
c.2184C>T (p.Phe728=)
c.2205C>T (p.Phe735=)
n.2053C>T
c.1899C>T (p.Phe633=)
c.2157C>T (p.Phe719=)
c.2052C>T (p.Phe684=)
n.95C>T
c.384C>T (p.Phe128=)
c.1998C>T (p.Phe666=)
c.2076C>T (p.Phe692=)
c.1827C>T (p.Phe609=)
n.2063-219C>T
c.2058C>T (p.Phe686=)
c.984C>T (p.Phe328=)
n.2090-219C>T
1g.151408459G>CCA341956395POGZc.2232C>G (p.Phe744Leu)
c.2025C>G (p.Phe675Leu)
c.2184C>G (p.Phe728Leu)
c.2205C>G (p.Phe735Leu)
n.2053C>G
c.1899C>G (p.Phe633Leu)
c.2157C>G (p.Phe719Leu)
c.2052C>G (p.Phe684Leu)
n.95C>G
c.384C>G (p.Phe128Leu)
c.1998C>G (p.Phe666Leu)
c.2076C>G (p.Phe692Leu)
c.1827C>G (p.Phe609Leu)
n.2063-219C>G
c.2058C>G (p.Phe686Leu)
c.984C>G (p.Phe328Leu)
n.2090-219C>G

Number of alleles fetched