Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.47936630C>ACA356823438CNGA1,NIPAL1c.1852G>T (p.Asp618Tyr)
c.1864G>T (p.Asp622Tyr)
c.2071G>T (p.Asp691Tyr)
n.478+21926C>A
n.563+21926C>A
c.2089G>T (p.Asp697Tyr)
4g.47936630C=CA1455551652CNGA1,NIPAL1c.1852G= (p.Asp618=)
c.1864G= (p.Asp622=)
c.2071G= (p.Asp691=)
n.478+21926C=
n.563+21926C=
c.2089G= (p.Asp697=)
4g.47936630C>GCA356823442CNGA1,NIPAL1c.1852G>C (p.Asp618His)
c.1864G>C (p.Asp622His)
c.2071G>C (p.Asp691His)
n.478+21926C>G
n.563+21926C>G
c.2089G>C (p.Asp697His)
 dbSNP gnomAD v3 gnomAD v4
4g.47936630C>TCA356823440CNGA1,NIPAL1c.1852G>A (p.Asp618Asn)
c.1864G>A (p.Asp622Asn)
c.2071G>A (p.Asp691Asn)
n.478+21926C>T
n.563+21926C>T
c.2089G>A (p.Asp697Asn)
 gnomAD v4
4g.47936631T>ACA356823445CNGA1,NIPAL1c.1851A>T (p.Lys617Asn)
c.1863A>T (p.Lys621Asn)
c.2070A>T (p.Lys690Asn)
n.478+21927T>A
n.563+21927T>A
c.2088A>T (p.Lys696Asn)
4g.47936631T>CCA439248298CNGA1,NIPAL1c.1851A>G (p.Lys617=)
c.1863A>G (p.Lys621=)
c.2070A>G (p.Lys690=)
n.478+21927T>C
n.563+21927T>C
c.2088A>G (p.Lys696=)
4g.47936631T>GCA356823447CNGA1,NIPAL1c.1851A>C (p.Lys617Asn)
c.1863A>C (p.Lys621Asn)
c.2070A>C (p.Lys690Asn)
n.478+21927T>G
n.563+21927T>G
c.2088A>C (p.Lys696Asn)
4g.47936632T>ACA356823448CNGA1,NIPAL1c.1850A>T (p.Lys617Ile)
c.1862A>T (p.Lys621Ile)
c.2069A>T (p.Lys690Ile)
n.478+21928T>A
n.563+21928T>A
c.2087A>T (p.Lys696Ile)
4g.47936632T>CCA356823451CNGA1,NIPAL1c.1850A>G (p.Lys617Arg)
c.1862A>G (p.Lys621Arg)
c.2069A>G (p.Lys690Arg)
n.478+21928T>C
n.563+21928T>C
c.2087A>G (p.Lys696Arg)
4g.47936632T>GCA356823453CNGA1,NIPAL1c.1850A>C (p.Lys617Thr)
c.1862A>C (p.Lys621Thr)
c.2069A>C (p.Lys690Thr)
n.478+21928T>G
n.563+21928T>G
c.2087A>C (p.Lys696Thr)
 ClinVar dbSNP gnomAD v4
4g.47936632T=CA1455551653CNGA1,NIPAL1c.1850A= (p.Lys617=)
c.1862A= (p.Lys621=)
c.2069A= (p.Lys690=)
n.478+21928T=
n.563+21928T=
c.2087A= (p.Lys696=)
4g.47936633T>ACA356823455CNGA1,NIPAL1c.1849A>T (p.Lys617Ter)
c.1861A>T (p.Lys621Ter)
c.2068A>T (p.Lys690Ter)
n.478+21929T>A
n.563+21929T>A
c.2086A>T (p.Lys696Ter)
4g.47936633T>CCA356823457CNGA1,NIPAL1c.1849A>G (p.Lys617Glu)
c.1861A>G (p.Lys621Glu)
c.2068A>G (p.Lys690Glu)
n.478+21929T>C
n.563+21929T>C
c.2086A>G (p.Lys696Glu)
 gnomAD v4
4g.47936633T>GCA356823459CNGA1,NIPAL1c.1849A>C (p.Lys617Gln)
c.1861A>C (p.Lys621Gln)
c.2068A>C (p.Lys690Gln)
n.478+21929T>G
n.563+21929T>G
c.2086A>C (p.Lys696Gln)
4g.47936634A>CCA439403842CNGA1,NIPAL1c.1848T>G (p.Pro616=)
c.1860T>G (p.Pro620=)
c.2067T>G (p.Pro689=)
n.478+21930A>C
n.563+21930A>C
c.2085T>G (p.Pro695=)
4g.47936634A>GCA439403843CNGA1,NIPAL1c.1848T>C (p.Pro616=)
c.1860T>C (p.Pro620=)
c.2067T>C (p.Pro689=)
n.478+21930A>G
n.563+21930A>G
c.2085T>C (p.Pro695=)
4g.47936634A>TCA439403844CNGA1,NIPAL1c.1848T>A (p.Pro616=)
c.1860T>A (p.Pro620=)
c.2067T>A (p.Pro689=)
n.478+21930A>T
n.563+21930A>T
c.2085T>A (p.Pro695=)
4g.47936635G>ACA356823462CNGA1,NIPAL1c.1847C>T (p.Pro616Leu)
c.1859C>T (p.Pro620Leu)
c.2066C>T (p.Pro689Leu)
n.478+21931G>A
n.563+21931G>A
c.2084C>T (p.Pro695Leu)
4g.47936635G>CCA356823463CNGA1,NIPAL1c.1847C>G (p.Pro616Arg)
c.1859C>G (p.Pro620Arg)
c.2066C>G (p.Pro689Arg)
n.478+21931G>C
n.563+21931G>C
c.2084C>G (p.Pro695Arg)
4g.47936635G>TCA356823465CNGA1,NIPAL1c.1847C>A (p.Pro616His)
c.1859C>A (p.Pro620His)
c.2066C>A (p.Pro689His)
n.478+21931G>T
n.563+21931G>T
c.2084C>A (p.Pro695His)
4g.47936636G>ACA96688018CNGA1,NIPAL1c.1846C>T (p.Pro616Ser)
c.1858C>T (p.Pro620Ser)
c.2065C>T (p.Pro689Ser)
n.478+21932G>A
n.563+21932G>A
c.2083C>T (p.Pro695Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
4g.47936636G>CCA356823468CNGA1,NIPAL1c.1846C>G (p.Pro616Ala)
c.1858C>G (p.Pro620Ala)
c.2065C>G (p.Pro689Ala)
n.478+21932G>C
n.563+21932G>C
c.2083C>G (p.Pro695Ala)
4g.47936636G=CA1455551654CNGA1,NIPAL1c.1846C= (p.Pro616=)
c.1858C= (p.Pro620=)
c.2065C= (p.Pro689=)
n.478+21932G=
n.563+21932G=
c.2083C= (p.Pro695=)
4g.47936636G>TCA356823470CNGA1,NIPAL1c.1846C>A (p.Pro616Thr)
c.1858C>A (p.Pro620Thr)
c.2065C>A (p.Pro689Thr)
n.478+21932G>T
n.563+21932G>T
c.2083C>A (p.Pro695Thr)
 COSMIC
4g.47936637A>CCA356823473CNGA1,NIPAL1c.1845T>G (p.Asp615Glu)
c.1857T>G (p.Asp619Glu)
c.2064T>G (p.Asp688Glu)
n.478+21933A>C
n.563+21933A>C
c.2082T>G (p.Asp694Glu)
4g.47936637A>GCA439403849CNGA1,NIPAL1c.1845T>C (p.Asp615=)
c.1857T>C (p.Asp619=)
c.2064T>C (p.Asp688=)
n.478+21933A>G
n.563+21933A>G
c.2082T>C (p.Asp694=)
4g.47936637A>TCA356823474CNGA1,NIPAL1c.1845T>A (p.Asp615Glu)
c.1857T>A (p.Asp619Glu)
c.2064T>A (p.Asp688Glu)
n.478+21933A>T
n.563+21933A>T
c.2082T>A (p.Asp694Glu)
4g.47936638T>ACA356823477CNGA1,NIPAL1c.1844A>T (p.Asp615Val)
c.1856A>T (p.Asp619Val)
c.2063A>T (p.Asp688Val)
n.478+21934T>A
n.563+21934T>A
c.2081A>T (p.Asp694Val)
 gnomAD v4
4g.47936638T>CCA356823479CNGA1,NIPAL1c.1844A>G (p.Asp615Gly)
c.1856A>G (p.Asp619Gly)
c.2063A>G (p.Asp688Gly)
n.478+21934T>C
n.563+21934T>C
c.2081A>G (p.Asp694Gly)
4g.47936638T>GCA356823482CNGA1,NIPAL1c.1844A>C (p.Asp615Ala)
c.1856A>C (p.Asp619Ala)
c.2063A>C (p.Asp688Ala)
n.478+21934T>G
n.563+21934T>G
c.2081A>C (p.Asp694Ala)
4g.47936639C>ACA356823484CNGA1,NIPAL1c.1843G>T (p.Asp615Tyr)
c.1855G>T (p.Asp619Tyr)
c.2062G>T (p.Asp688Tyr)
n.478+21935C>A
n.563+21935C>A
c.2080G>T (p.Asp694Tyr)
4g.47936639C>GCA356823486CNGA1,NIPAL1c.1843G>C (p.Asp615His)
c.1855G>C (p.Asp619His)
c.2062G>C (p.Asp688His)
n.478+21935C>G
n.563+21935C>G
c.2080G>C (p.Asp694His)
4g.47936639C>TCA356823488CNGA1,NIPAL1c.1843G>A (p.Asp615Asn)
c.1855G>A (p.Asp619Asn)
c.2062G>A (p.Asp688Asn)
n.478+21935C>T
n.563+21935C>T
c.2080G>A (p.Asp694Asn)
4g.47936640delCA2586973851CNGA1,NIPAL1c.1842del (p.Ser614ArgfsTer17)
c.1854del (p.Ser618ArgfsTer17)
c.2061del (p.Ser687ArgfsTer17)
n.478+21936del
n.563+21936del
c.2079del (p.Ser693ArgfsTer17)
4g.47936640A=CA1455551655CNGA1,NIPAL1c.1842T= (p.Ser614=)
c.1854T= (p.Ser618=)
c.2061T= (p.Ser687=)
n.478+21936A=
n.563+21936A=
c.2079T= (p.Ser693=)
4g.47936640A>CCA2911007CNGA1,NIPAL1c.1842T>G (p.Ser614Arg)
c.1854T>G (p.Ser618Arg)
c.2061T>G (p.Ser687Arg)
n.478+21936A>C
n.563+21936A>C
c.2079T>G (p.Ser693Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936640A>GCA439403850CNGA1,NIPAL1c.1842T>C (p.Ser614=)
c.1854T>C (p.Ser618=)
c.2061T>C (p.Ser687=)
n.478+21936A>G
n.563+21936A>G
c.2079T>C (p.Ser693=)
4g.47936640A>TCA2911008CNGA1,NIPAL1c.1842T>A (p.Ser614Arg)
c.1854T>A (p.Ser618Arg)
c.2061T>A (p.Ser687Arg)
n.478+21936A>T
n.563+21936A>T
c.2079T>A (p.Ser693Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936641C>ACA356823495CNGA1,NIPAL1c.1841G>T (p.Ser614Ile)
c.1853G>T (p.Ser618Ile)
c.2060G>T (p.Ser687Ile)
n.478+21937C>A
n.563+21937C>A
c.2078G>T (p.Ser693Ile)
4g.47936641C>GCA356823497CNGA1,NIPAL1c.1841G>C (p.Ser614Thr)
c.1853G>C (p.Ser618Thr)
c.2060G>C (p.Ser687Thr)
n.478+21937C>G
n.563+21937C>G
c.2078G>C (p.Ser693Thr)
4g.47936641C>TCA356823494CNGA1,NIPAL1c.1841G>A (p.Ser614Asn)
c.1853G>A (p.Ser618Asn)
c.2060G>A (p.Ser687Asn)
n.478+21937C>T
n.563+21937C>T
c.2078G>A (p.Ser693Asn)
 gnomAD v4
4g.47936642T>ACA356823500CNGA1,NIPAL1c.1840A>T (p.Ser614Cys)
c.1852A>T (p.Ser618Cys)
c.2059A>T (p.Ser687Cys)
n.478+21938T>A
n.563+21938T>A
c.2077A>T (p.Ser693Cys)
4g.47936642T>CCA356823501CNGA1,NIPAL1c.1840A>G (p.Ser614Gly)
c.1852A>G (p.Ser618Gly)
c.2059A>G (p.Ser687Gly)
n.478+21938T>C
n.563+21938T>C
c.2077A>G (p.Ser693Gly)
4g.47936642T>GCA356823503CNGA1,NIPAL1c.1840A>C (p.Ser614Arg)
c.1852A>C (p.Ser618Arg)
c.2059A>C (p.Ser687Arg)
n.478+21938T>G
n.563+21938T>G
c.2077A>C (p.Ser693Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.47936642T=CA1455551656CNGA1,NIPAL1c.1840A= (p.Ser614=)
c.1852A= (p.Ser618=)
c.2059A= (p.Ser687=)
n.478+21938T=
n.563+21938T=
c.2077A= (p.Ser693=)
4g.47936643G>ACA439403856CNGA1,NIPAL1c.1839C>T (p.Gly613=)
c.1851C>T (p.Gly617=)
c.2058C>T (p.Gly686=)
n.478+21939G>A
n.563+21939G>A
c.2076C>T (p.Gly692=)
4g.47936643G>CCA439403855CNGA1,NIPAL1c.1839C>G (p.Gly613=)
c.1851C>G (p.Gly617=)
c.2058C>G (p.Gly686=)
n.478+21939G>C
n.563+21939G>C
c.2076C>G (p.Gly692=)
4g.47936643G>TCA439403857CNGA1,NIPAL1c.1839C>A (p.Gly613=)
c.1851C>A (p.Gly617=)
c.2058C>A (p.Gly686=)
n.478+21939G>T
n.563+21939G>T
c.2076C>A (p.Gly692=)
4g.47936644C>ACA356823506CNGA1,NIPAL1c.1838G>T (p.Gly613Val)
c.1850G>T (p.Gly617Val)
c.2057G>T (p.Gly686Val)
n.478+21940C>A
n.563+21940C>A
c.2075G>T (p.Gly692Val)
4g.47936644C>GCA356823508CNGA1,NIPAL1c.1838G>C (p.Gly613Ala)
c.1850G>C (p.Gly617Ala)
c.2057G>C (p.Gly686Ala)
n.478+21940C>G
n.563+21940C>G
c.2075G>C (p.Gly692Ala)
4g.47936644C>TCA356823510CNGA1,NIPAL1c.1838G>A (p.Gly613Asp)
c.1850G>A (p.Gly617Asp)
c.2057G>A (p.Gly686Asp)
n.478+21940C>T
n.563+21940C>T
c.2075G>A (p.Gly692Asp)
4g.47936645C>ACA356823513CNGA1,NIPAL1c.1837G>T (p.Gly613Cys)
c.1849G>T (p.Gly617Cys)
c.2056G>T (p.Gly686Cys)
n.478+21941C>A
n.563+21941C>A
c.2074G>T (p.Gly692Cys)
4g.47936645C>GCA356823515CNGA1,NIPAL1c.1837G>C (p.Gly613Arg)
c.1849G>C (p.Gly617Arg)
c.2056G>C (p.Gly686Arg)
n.478+21941C>G
n.563+21941C>G
c.2074G>C (p.Gly692Arg)
4g.47936645C>TCA356823516CNGA1,NIPAL1c.1837G>A (p.Gly613Ser)
c.1849G>A (p.Gly617Ser)
c.2056G>A (p.Gly686Ser)
n.478+21941C>T
n.563+21941C>T
c.2074G>A (p.Gly692Ser)
4g.47936646A>CCA439403858CNGA1,NIPAL1c.1836T>G (p.Ala612=)
c.1848T>G (p.Ala616=)
c.2055T>G (p.Ala685=)
n.478+21942A>C
n.563+21942A>C
c.2073T>G (p.Ala691=)
4g.47936646A>GCA439403859CNGA1,NIPAL1c.1836T>C (p.Ala612=)
c.1848T>C (p.Ala616=)
c.2055T>C (p.Ala685=)
n.478+21942A>G
n.563+21942A>G
c.2073T>C (p.Ala691=)
4g.47936646A>TCA439403860CNGA1,NIPAL1c.1836T>A (p.Ala612=)
c.1848T>A (p.Ala616=)
c.2055T>A (p.Ala685=)
n.478+21942A>T
n.563+21942A>T
c.2073T>A (p.Ala691=)
4g.47936647G>ACA356823520CNGA1,NIPAL1c.1835C>T (p.Ala612Val)
c.1847C>T (p.Ala616Val)
c.2054C>T (p.Ala685Val)
n.478+21943G>A
n.563+21943G>A
c.2072C>T (p.Ala691Val)
4g.47936647G>CCA356823521CNGA1,NIPAL1c.1835C>G (p.Ala612Gly)
c.1847C>G (p.Ala616Gly)
c.2054C>G (p.Ala685Gly)
n.478+21943G>C
n.563+21943G>C
c.2072C>G (p.Ala691Gly)
4g.47936647G>TCA356823523CNGA1,NIPAL1c.1835C>A (p.Ala612Asp)
c.1847C>A (p.Ala616Asp)
c.2054C>A (p.Ala685Asp)
n.478+21943G>T
n.563+21943G>T
c.2072C>A (p.Ala691Asp)
 gnomAD v4
4g.47936648C>ACA356823528CNGA1,NIPAL1c.1834G>T (p.Ala612Ser)
c.1846G>T (p.Ala616Ser)
c.2053G>T (p.Ala685Ser)
n.478+21944C>A
n.563+21944C>A
c.2071G>T (p.Ala691Ser)
4g.47936648C>GCA356823530CNGA1,NIPAL1c.1834G>C (p.Ala612Pro)
c.1846G>C (p.Ala616Pro)
c.2053G>C (p.Ala685Pro)
n.478+21944C>G
n.563+21944C>G
c.2071G>C (p.Ala691Pro)
4g.47936648C>TCA356823526CNGA1,NIPAL1c.1834G>A (p.Ala612Thr)
c.1846G>A (p.Ala616Thr)
c.2053G>A (p.Ala685Thr)
n.478+21944C>T
n.563+21944C>T
c.2071G>A (p.Ala691Thr)
4g.47936649A>CCA356823533CNGA1,NIPAL1c.1833T>G (p.Asn611Lys)
c.1845T>G (p.Asn615Lys)
c.2052T>G (p.Asn684Lys)
n.478+21945A>C
n.563+21945A>C
c.2070T>G (p.Asn690Lys)
4g.47936649A>GCA439403862CNGA1,NIPAL1c.1833T>C (p.Asn611=)
c.1845T>C (p.Asn615=)
c.2052T>C (p.Asn684=)
n.478+21945A>G
n.563+21945A>G
c.2070T>C (p.Asn690=)
4g.47936649A>TCA356823535CNGA1,NIPAL1c.1833T>A (p.Asn611Lys)
c.1845T>A (p.Asn615Lys)
c.2052T>A (p.Asn684Lys)
n.478+21945A>T
n.563+21945A>T
c.2070T>A (p.Asn690Lys)
 gnomAD v4
4g.47936650T>ACA356823536CNGA1,NIPAL1c.1832A>T (p.Asn611Ile)
c.1844A>T (p.Asn615Ile)
c.2051A>T (p.Asn684Ile)
n.478+21946T>A
n.563+21946T>A
c.2069A>T (p.Asn690Ile)
4g.47936650T>CCA356823539CNGA1,NIPAL1c.1832A>G (p.Asn611Ser)
c.1844A>G (p.Asn615Ser)
c.2051A>G (p.Asn684Ser)
n.478+21946T>C
n.563+21946T>C
c.2069A>G (p.Asn690Ser)
 dbSNP gnomAD v4
4g.47936650T>GCA356823540CNGA1,NIPAL1c.1832A>C (p.Asn611Thr)
c.1844A>C (p.Asn615Thr)
c.2051A>C (p.Asn684Thr)
n.478+21946T>G
n.563+21946T>G
c.2069A>C (p.Asn690Thr)
 gnomAD v4
4g.47936650T=CA1455551657CNGA1,NIPAL1c.1832A= (p.Asn611=)
c.1844A= (p.Asn615=)
c.2051A= (p.Asn684=)
n.478+21946T=
n.563+21946T=
c.2069A= (p.Asn690=)
4g.47936651T>ACA356823546CNGA1,NIPAL1c.1831A>T (p.Asn611Tyr)
c.1843A>T (p.Asn615Tyr)
c.2050A>T (p.Asn684Tyr)
n.478+21947T>A
n.563+21947T>A
c.2068A>T (p.Asn690Tyr)
4g.47936651T>CCA356823543CNGA1,NIPAL1c.1831A>G (p.Asn611Asp)
c.1843A>G (p.Asn615Asp)
c.2050A>G (p.Asn684Asp)
n.478+21947T>C
n.563+21947T>C
c.2068A>G (p.Asn690Asp)
4g.47936651T>GCA356823544CNGA1,NIPAL1c.1831A>C (p.Asn611His)
c.1843A>C (p.Asn615His)
c.2050A>C (p.Asn684His)
n.478+21947T>G
n.563+21947T>G
c.2068A>C (p.Asn690His)
4g.47936652T>ACA439403864CNGA1,NIPAL1c.1830A>T (p.Ala610=)
c.1842A>T (p.Ala614=)
c.2049A>T (p.Ala683=)
n.478+21948T>A
n.563+21948T>A
c.2067A>T (p.Ala689=)
4g.47936652T>CCA439403865CNGA1,NIPAL1c.1830A>G (p.Ala610=)
c.1842A>G (p.Ala614=)
c.2049A>G (p.Ala683=)
n.478+21948T>C
n.563+21948T>C
c.2067A>G (p.Ala689=)
4g.47936652T>GCA439403866CNGA1,NIPAL1c.1830A>C (p.Ala610=)
c.1842A>C (p.Ala614=)
c.2049A>C (p.Ala683=)
n.478+21948T>G
n.563+21948T>G
c.2067A>C (p.Ala689=)
4g.47936653G>ACA356823549CNGA1,NIPAL1c.1829C>T (p.Ala610Val)
c.1841C>T (p.Ala614Val)
c.2048C>T (p.Ala683Val)
n.478+21949G>A
n.563+21949G>A
c.2066C>T (p.Ala689Val)
 dbSNP
4g.47936653G>CCA356823551CNGA1,NIPAL1c.1829C>G (p.Ala610Gly)
c.1841C>G (p.Ala614Gly)
c.2048C>G (p.Ala683Gly)
n.478+21949G>C
n.563+21949G>C
c.2066C>G (p.Ala689Gly)
4g.47936653G=CA1455551658CNGA1,NIPAL1c.1829C= (p.Ala610=)
c.1841C= (p.Ala614=)
c.2048C= (p.Ala683=)
n.478+21949G=
n.563+21949G=
c.2066C= (p.Ala689=)
4g.47936653G>TCA356823553CNGA1,NIPAL1c.1829C>A (p.Ala610Glu)
c.1841C>A (p.Ala614Glu)
c.2048C>A (p.Ala683Glu)
n.478+21949G>T
n.563+21949G>T
c.2066C>A (p.Ala689Glu)
4g.47936654C>ACA356823556CNGA1,NIPAL1c.1828G>T (p.Ala610Ser)
c.1840G>T (p.Ala614Ser)
c.2047G>T (p.Ala683Ser)
n.478+21950C>A
n.563+21950C>A
c.2065G>T (p.Ala689Ser)
4g.47936654C>GCA356823558CNGA1,NIPAL1c.1828G>C (p.Ala610Pro)
c.1840G>C (p.Ala614Pro)
c.2047G>C (p.Ala683Pro)
n.478+21950C>G
n.563+21950C>G
c.2065G>C (p.Ala689Pro)
4g.47936654C>TCA356823560CNGA1,NIPAL1c.1828G>A (p.Ala610Thr)
c.1840G>A (p.Ala614Thr)
c.2047G>A (p.Ala683Thr)
n.478+21950C>T
n.563+21950C>T
c.2065G>A (p.Ala689Thr)
 gnomAD v4
4g.47936655A=CA1455551659CNGA1,NIPAL1c.1827T= (p.Ile609=)
c.1839T= (p.Ile613=)
c.2046T= (p.Ile682=)
n.478+21951A=
n.563+21951A=
c.2064T= (p.Ile688=)
4g.47936655A>CCA356823562CNGA1,NIPAL1c.1827T>G (p.Ile609Met)
c.1839T>G (p.Ile613Met)
c.2046T>G (p.Ile682Met)
n.478+21951A>C
n.563+21951A>C
c.2064T>G (p.Ile688Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47936655A>GCA439403869CNGA1,NIPAL1c.1827T>C (p.Ile609=)
c.1839T>C (p.Ile613=)
c.2046T>C (p.Ile682=)
n.478+21951A>G
n.563+21951A>G
c.2064T>C (p.Ile688=)
4g.47936655A>TCA439403870CNGA1,NIPAL1c.1827T>A (p.Ile609=)
c.1839T>A (p.Ile613=)
c.2046T>A (p.Ile682=)
n.478+21951A>T
n.563+21951A>T
c.2064T>A (p.Ile688=)
4g.47936656A>CCA356823567CNGA1,NIPAL1c.1826T>G (p.Ile609Ser)
c.1838T>G (p.Ile613Ser)
c.2045T>G (p.Ile682Ser)
n.478+21952A>C
n.563+21952A>C
c.2063T>G (p.Ile688Ser)
4g.47936656A>GCA356823565CNGA1,NIPAL1c.1826T>C (p.Ile609Thr)
c.1838T>C (p.Ile613Thr)
c.2045T>C (p.Ile682Thr)
n.478+21952A>G
n.563+21952A>G
c.2063T>C (p.Ile688Thr)
4g.47936656A>TCA356823569CNGA1,NIPAL1c.1826T>A (p.Ile609Asn)
c.1838T>A (p.Ile613Asn)
c.2045T>A (p.Ile682Asn)
n.478+21952A>T
n.563+21952A>T
c.2063T>A (p.Ile688Asn)
4g.47936657T>ACA356823572CNGA1,NIPAL1c.1825A>T (p.Ile609Phe)
c.1837A>T (p.Ile613Phe)
c.2044A>T (p.Ile682Phe)
n.478+21953T>A
n.563+21953T>A
c.2062A>T (p.Ile688Phe)
4g.47936657T>CCA356823573CNGA1,NIPAL1c.1825A>G (p.Ile609Val)
c.1837A>G (p.Ile613Val)
c.2044A>G (p.Ile682Val)
n.478+21953T>C
n.563+21953T>C
c.2062A>G (p.Ile688Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936657T>GCA356823576CNGA1,NIPAL1c.1825A>C (p.Ile609Leu)
c.1837A>C (p.Ile613Leu)
c.2044A>C (p.Ile682Leu)
n.478+21953T>G
n.563+21953T>G
c.2062A>C (p.Ile688Leu)
4g.47936657T=CA1455551660CNGA1,NIPAL1c.1825A= (p.Ile609=)
c.1837A= (p.Ile613=)
c.2044A= (p.Ile682=)
n.478+21953T=
n.563+21953T=
c.2062A= (p.Ile688=)
4g.47936658G>ACA439403873CNGA1,NIPAL1c.1824C>T (p.Asn608=)
c.1836C>T (p.Asn612=)
c.2043C>T (p.Asn681=)
n.478+21954G>A
n.563+21954G>A
c.2061C>T (p.Asn687=)
 ClinVar dbSNP gnomAD v4
4g.47936658G>CCA356823578CNGA1,NIPAL1c.1824C>G (p.Asn608Lys)
c.1836C>G (p.Asn612Lys)
c.2043C>G (p.Asn681Lys)
n.478+21954G>C
n.563+21954G>C
c.2061C>G (p.Asn687Lys)
4g.47936658G=CA1455551661CNGA1,NIPAL1c.1824C= (p.Asn608=)
c.1836C= (p.Asn612=)
c.2043C= (p.Asn681=)
n.478+21954G=
n.563+21954G=
c.2061C= (p.Asn687=)
4g.47936658G>TCA356823580CNGA1,NIPAL1c.1824C>A (p.Asn608Lys)
c.1836C>A (p.Asn612Lys)
c.2043C>A (p.Asn681Lys)
n.478+21954G>T
n.563+21954G>T
c.2061C>A (p.Asn687Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47936659T>ACA356823583CNGA1,NIPAL1c.1823A>T (p.Asn608Ile)
c.1835A>T (p.Asn612Ile)
c.2042A>T (p.Asn681Ile)
n.478+21955T>A
n.563+21955T>A
c.2060A>T (p.Asn687Ile)
4g.47936659T>CCA356823585CNGA1,NIPAL1c.1823A>G (p.Asn608Ser)
c.1835A>G (p.Asn612Ser)
c.2042A>G (p.Asn681Ser)
n.478+21955T>C
n.563+21955T>C
c.2060A>G (p.Asn687Ser)
4g.47936659T>GCA356823587CNGA1,NIPAL1c.1823A>C (p.Asn608Thr)
c.1835A>C (p.Asn612Thr)
c.2042A>C (p.Asn681Thr)
n.478+21955T>G
n.563+21955T>G
c.2060A>C (p.Asn687Thr)
4g.47936660T>ACA356823589CNGA1,NIPAL1c.1822A>T (p.Asn608Tyr)
c.1834A>T (p.Asn612Tyr)
c.2041A>T (p.Asn681Tyr)
n.478+21956T>A
n.563+21956T>A
c.2059A>T (p.Asn687Tyr)
4g.47936660T>CCA356823591CNGA1,NIPAL1c.1822A>G (p.Asn608Asp)
c.1834A>G (p.Asn612Asp)
c.2041A>G (p.Asn681Asp)
n.478+21956T>C
n.563+21956T>C
c.2059A>G (p.Asn687Asp)
4g.47936660T>GCA356823593CNGA1,NIPAL1c.1822A>C (p.Asn608His)
c.1834A>C (p.Asn612His)
c.2041A>C (p.Asn681His)
n.478+21956T>G
n.563+21956T>G
c.2059A>C (p.Asn687His)
4g.47936661T>ACA439403875CNGA1,NIPAL1c.1821A>T (p.Leu607=)
c.1833A>T (p.Leu611=)
c.2040A>T (p.Leu680=)
n.478+21957T>A
n.563+21957T>A
c.2058A>T (p.Leu686=)
 dbSNP
4g.47936661T>CCA439403876CNGA1,NIPAL1c.1821A>G (p.Leu607=)
c.1833A>G (p.Leu611=)
c.2040A>G (p.Leu680=)
n.478+21957T>C
n.563+21957T>C
c.2058A>G (p.Leu686=)
4g.47936661T>GCA439403877CNGA1,NIPAL1c.1821A>C (p.Leu607=)
c.1833A>C (p.Leu611=)
c.2040A>C (p.Leu680=)
n.478+21957T>G
n.563+21957T>G
c.2058A>C (p.Leu686=)
4g.47936661T=CA1455551662CNGA1,NIPAL1c.1821A= (p.Leu607=)
c.1833A= (p.Leu611=)
c.2040A= (p.Leu680=)
n.478+21957T=
n.563+21957T=
c.2058A= (p.Leu686=)
4g.47936662A>CCA356823596CNGA1,NIPAL1c.1820T>G (p.Leu607Arg)
c.1832T>G (p.Leu611Arg)
c.2039T>G (p.Leu680Arg)
n.478+21958A>C
n.563+21958A>C
c.2057T>G (p.Leu686Arg)
4g.47936662A>GCA356823597CNGA1,NIPAL1c.1820T>C (p.Leu607Pro)
c.1832T>C (p.Leu611Pro)
c.2039T>C (p.Leu680Pro)
n.478+21958A>G
n.563+21958A>G
c.2057T>C (p.Leu686Pro)
4g.47936662A>TCA356823599CNGA1,NIPAL1c.1820T>A (p.Leu607Gln)
c.1832T>A (p.Leu611Gln)
c.2039T>A (p.Leu680Gln)
n.478+21958A>T
n.563+21958A>T
c.2057T>A (p.Leu686Gln)
4g.47936663G>ACA439403878CNGA1,NIPAL1c.1819C>T (p.Leu607=)
c.1831C>T (p.Leu611=)
c.2038C>T (p.Leu680=)
n.478+21959G>A
n.563+21959G>A
c.2056C>T (p.Leu686=)
4g.47936663G>CCA96688038CNGA1,NIPAL1c.1819C>G (p.Leu607Val)
c.1831C>G (p.Leu611Val)
c.2038C>G (p.Leu680Val)
n.478+21959G>C
n.563+21959G>C
c.2056C>G (p.Leu686Val)
 dbSNP gnomAD v4
4g.47936663G=CA1455551663CNGA1,NIPAL1c.1819C= (p.Leu607=)
c.1831C= (p.Leu611=)
c.2038C= (p.Leu680=)
n.478+21959G=
n.563+21959G=
c.2056C= (p.Leu686=)
4g.47936663G>TCA356823603CNGA1,NIPAL1c.1819C>A (p.Leu607Ile)
c.1831C>A (p.Leu611Ile)
c.2038C>A (p.Leu680Ile)
n.478+21959G>T
n.563+21959G>T
c.2056C>A (p.Leu686Ile)
4g.47936664A=CA1455551664CNGA1,NIPAL1c.1818T= (p.Asp606=)
c.1830T= (p.Asp610=)
c.2037T= (p.Asp679=)
n.478+21960A=
n.563+21960A=
c.2055T= (p.Asp685=)
4g.47936664A>CCA356823606CNGA1,NIPAL1c.1818T>G (p.Asp606Glu)
c.1830T>G (p.Asp610Glu)
c.2037T>G (p.Asp679Glu)
n.478+21960A>C
n.563+21960A>C
c.2055T>G (p.Asp685Glu)
4g.47936664A>GCA2911009CNGA1,NIPAL1c.1818T>C (p.Asp606=)
c.1830T>C (p.Asp610=)
c.2037T>C (p.Asp679=)
n.478+21960A>G
n.563+21960A>G
c.2055T>C (p.Asp685=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936664A>TCA356823609CNGA1,NIPAL1c.1818T>A (p.Asp606Glu)
c.1830T>A (p.Asp610Glu)
c.2037T>A (p.Asp679Glu)
n.478+21960A>T
n.563+21960A>T
c.2055T>A (p.Asp685Glu)
4g.47936665T>ACA356823612CNGA1,NIPAL1c.1817A>T (p.Asp606Val)
c.1829A>T (p.Asp610Val)
c.2036A>T (p.Asp679Val)
n.478+21961T>A
n.563+21961T>A
c.2054A>T (p.Asp685Val)
4g.47936665T>CCA356823614CNGA1,NIPAL1c.1817A>G (p.Asp606Gly)
c.1829A>G (p.Asp610Gly)
c.2036A>G (p.Asp679Gly)
n.478+21961T>C
n.563+21961T>C
c.2054A>G (p.Asp685Gly)
4g.47936665T>GCA356823615CNGA1,NIPAL1c.1817A>C (p.Asp606Ala)
c.1829A>C (p.Asp610Ala)
c.2036A>C (p.Asp679Ala)
n.478+21961T>G
n.563+21961T>G
c.2054A>C (p.Asp685Ala)
4g.47936666C>ACA356823616CNGA1,NIPAL1c.1816G>T (p.Asp606Tyr)
c.1828G>T (p.Asp610Tyr)
c.2035G>T (p.Asp679Tyr)
n.478+21962C>A
n.563+21962C>A
c.2053G>T (p.Asp685Tyr)
 gnomAD v4
4g.47936666C>GCA356823618CNGA1,NIPAL1c.1816G>C (p.Asp606His)
c.1828G>C (p.Asp610His)
c.2035G>C (p.Asp679His)
n.478+21962C>G
n.563+21962C>G
c.2053G>C (p.Asp685His)
4g.47936666C>TCA356823620CNGA1,NIPAL1c.1816G>A (p.Asp606Asn)
c.1828G>A (p.Asp610Asn)
c.2035G>A (p.Asp679Asn)
n.478+21962C>T
n.563+21962C>T
c.2053G>A (p.Asp685Asn)
4g.47936667C>ACA439403886CNGA1,NIPAL1c.1815G>T (p.Leu605=)
c.1827G>T (p.Leu609=)
c.2034G>T (p.Leu678=)
n.478+21963C>A
n.563+21963C>A
c.2052G>T (p.Leu684=)
4g.47936667C>GCA439403887CNGA1,NIPAL1c.1815G>C (p.Leu605=)
c.1827G>C (p.Leu609=)
c.2034G>C (p.Leu678=)
n.478+21963C>G
n.563+21963C>G
c.2052G>C (p.Leu684=)
4g.47936667C>TCA439403889CNGA1,NIPAL1c.1815G>A (p.Leu605=)
c.1827G>A (p.Leu609=)
c.2034G>A (p.Leu678=)
n.478+21963C>T
n.563+21963C>T
c.2052G>A (p.Leu684=)
4g.47936668A>CCA356823622CNGA1,NIPAL1c.1814T>G (p.Leu605Arg)
c.1826T>G (p.Leu609Arg)
c.2033T>G (p.Leu678Arg)
n.478+21964A>C
n.563+21964A>C
c.2051T>G (p.Leu684Arg)
4g.47936668A>GCA356823624CNGA1,NIPAL1c.1814T>C (p.Leu605Pro)
c.1826T>C (p.Leu609Pro)
c.2033T>C (p.Leu678Pro)
n.478+21964A>G
n.563+21964A>G
c.2051T>C (p.Leu684Pro)
4g.47936668A>TCA356823626CNGA1,NIPAL1c.1814T>A (p.Leu605Gln)
c.1826T>A (p.Leu609Gln)
c.2033T>A (p.Leu678Gln)
n.478+21964A>T
n.563+21964A>T
c.2051T>A (p.Leu684Gln)
4g.47936669G>ACA439403891CNGA1,NIPAL1c.1813C>T (p.Leu605=)
c.1825C>T (p.Leu609=)
c.2032C>T (p.Leu678=)
n.478+21965G>A
n.563+21965G>A
c.2050C>T (p.Leu684=)
 COSMIC COSMIC
4g.47936669G>CCA356823628CNGA1,NIPAL1c.1813C>G (p.Leu605Val)
c.1825C>G (p.Leu609Val)
c.2032C>G (p.Leu678Val)
n.478+21965G>C
n.563+21965G>C
c.2050C>G (p.Leu684Val)
4g.47936669G>TCA356823630CNGA1,NIPAL1c.1813C>A (p.Leu605Met)
c.1825C>A (p.Leu609Met)
c.2032C>A (p.Leu678Met)
n.478+21965G>T
n.563+21965G>T
c.2050C>A (p.Leu684Met)
4g.47936670T>ACA439403893CNGA1,NIPAL1c.1812A>T (p.Leu604=)
c.1824A>T (p.Leu608=)
c.2031A>T (p.Leu677=)
n.478+21966T>A
n.563+21966T>A
c.2049A>T (p.Leu683=)
4g.47936670T>CCA439403894CNGA1,NIPAL1c.1812A>G (p.Leu604=)
c.1824A>G (p.Leu608=)
c.2031A>G (p.Leu677=)
n.478+21966T>C
n.563+21966T>C
c.2049A>G (p.Leu683=)
4g.47936670T>GCA439403895CNGA1,NIPAL1c.1812A>C (p.Leu604=)
c.1824A>C (p.Leu608=)
c.2031A>C (p.Leu677=)
n.478+21966T>G
n.563+21966T>G
c.2049A>C (p.Leu683=)
4g.47936671A>CCA356823633CNGA1,NIPAL1c.1811T>G (p.Leu604Arg)
c.1823T>G (p.Leu608Arg)
c.2030T>G (p.Leu677Arg)
n.478+21967A>C
n.563+21967A>C
c.2048T>G (p.Leu683Arg)
4g.47936671A>GCA356823635CNGA1,NIPAL1c.1811T>C (p.Leu604Pro)
c.1823T>C (p.Leu608Pro)
c.2030T>C (p.Leu677Pro)
n.478+21967A>G
n.563+21967A>G
c.2048T>C (p.Leu683Pro)
4g.47936671A>TCA356823637CNGA1,NIPAL1c.1811T>A (p.Leu604Gln)
c.1823T>A (p.Leu608Gln)
c.2030T>A (p.Leu677Gln)
n.478+21967A>T
n.563+21967A>T
c.2048T>A (p.Leu683Gln)
4g.47936672G>ACA439403897CNGA1,NIPAL1c.1810C>T (p.Leu604=)
c.1822C>T (p.Leu608=)
c.2029C>T (p.Leu677=)
n.478+21968G>A
n.563+21968G>A
c.2047C>T (p.Leu683=)
 dbSNP gnomAD v3 gnomAD v4
4g.47936672G>CCA356823639CNGA1,NIPAL1c.1810C>G (p.Leu604Val)
c.1822C>G (p.Leu608Val)
c.2029C>G (p.Leu677Val)
n.478+21968G>C
n.563+21968G>C
c.2047C>G (p.Leu683Val)
4g.47936672G=CA1455551665CNGA1,NIPAL1c.1810C= (p.Leu604=)
c.1822C= (p.Leu608=)
c.2029C= (p.Leu677=)
n.478+21968G=
n.563+21968G=
c.2047C= (p.Leu683=)
4g.47936672G>TCA356823641CNGA1,NIPAL1c.1810C>A (p.Leu604Ile)
c.1822C>A (p.Leu608Ile)
c.2029C>A (p.Leu677Ile)
n.478+21968G>T
n.563+21968G>T
c.2047C>A (p.Leu683Ile)
4g.47936673A>CCA439403898CNGA1,NIPAL1c.1809T>G (p.Gly603=)
c.1821T>G (p.Gly607=)
c.2028T>G (p.Gly676=)
n.478+21969A>C
n.563+21969A>C
c.2046T>G (p.Gly682=)
4g.47936673A>GCA439403899CNGA1,NIPAL1c.1809T>C (p.Gly603=)
c.1821T>C (p.Gly607=)
c.2028T>C (p.Gly676=)
n.478+21969A>G
n.563+21969A>G
c.2046T>C (p.Gly682=)
4g.47936673A>TCA439403900CNGA1,NIPAL1c.1809T>A (p.Gly603=)
c.1821T>A (p.Gly607=)
c.2028T>A (p.Gly676=)
n.478+21969A>T
n.563+21969A>T
c.2046T>A (p.Gly682=)
4g.47936674C>ACA356823644CNGA1,NIPAL1c.1808G>T (p.Gly603Val)
c.1820G>T (p.Gly607Val)
c.2027G>T (p.Gly676Val)
n.478+21970C>A
n.563+21970C>A
c.2045G>T (p.Gly682Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47936674C=CA1455551666CNGA1,NIPAL1c.1808G= (p.Gly603=)
c.1820G= (p.Gly607=)
c.2027G= (p.Gly676=)
n.478+21970C=
n.563+21970C=
c.2045G= (p.Gly682=)
4g.47936674C>GCA356823646CNGA1,NIPAL1c.1808G>C (p.Gly603Ala)
c.1820G>C (p.Gly607Ala)
c.2027G>C (p.Gly676Ala)
n.478+21970C>G
n.563+21970C>G
c.2045G>C (p.Gly682Ala)
4g.47936674C>TCA356823647CNGA1,NIPAL1c.1808G>A (p.Gly603Asp)
c.1820G>A (p.Gly607Asp)
c.2027G>A (p.Gly676Asp)
n.478+21970C>T
n.563+21970C>T
c.2045G>A (p.Gly682Asp)
 gnomAD v4
4g.47936675C>ACA356823650CNGA1,NIPAL1c.1807G>T (p.Gly603Cys)
c.1819G>T (p.Gly607Cys)
c.2026G>T (p.Gly676Cys)
n.478+21971C>A
n.563+21971C>A
c.2044G>T (p.Gly682Cys)
4g.47936675C=CA1455551667CNGA1,NIPAL1c.1807G= (p.Gly603=)
c.1819G= (p.Gly607=)
c.2026G= (p.Gly676=)
n.478+21971C=
n.563+21971C=
c.2044G= (p.Gly682=)
4g.47936675C>GCA356823652CNGA1,NIPAL1c.1807G>C (p.Gly603Arg)
c.1819G>C (p.Gly607Arg)
c.2026G>C (p.Gly676Arg)
n.478+21971C>G
n.563+21971C>G
c.2044G>C (p.Gly682Arg)
 dbSNP
4g.47936675C>TCA356823654CNGA1,NIPAL1c.1807G>A (p.Gly603Ser)
c.1819G>A (p.Gly607Ser)
c.2026G>A (p.Gly676Ser)
n.478+21971C>T
n.563+21971C>T
c.2044G>A (p.Gly682Ser)
 dbSNP gnomAD v4
4g.47936676A=CA1455551668CNGA1,NIPAL1c.1806T= (p.Asp602=)
c.1818T= (p.Asp606=)
c.2025T= (p.Asp675=)
n.478+21972A=
n.563+21972A=
c.2043T= (p.Asp681=)
4g.47936676A>CCA356823656CNGA1,NIPAL1c.1806T>G (p.Asp602Glu)
c.1818T>G (p.Asp606Glu)
c.2025T>G (p.Asp675Glu)
n.478+21972A>C
n.563+21972A>C
c.2043T>G (p.Asp681Glu)
4g.47936676A>GCA439403902CNGA1,NIPAL1c.1806T>C (p.Asp602=)
c.1818T>C (p.Asp606=)
c.2025T>C (p.Asp675=)
n.478+21972A>G
n.563+21972A>G
c.2043T>C (p.Asp681=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936676A>TCA356823658CNGA1,NIPAL1c.1806T>A (p.Asp602Glu)
c.1818T>A (p.Asp606Glu)
c.2025T>A (p.Asp675Glu)
n.478+21972A>T
n.563+21972A>T
c.2043T>A (p.Asp681Glu)
4g.47936677T>ACA356823665CNGA1,NIPAL1c.1805A>T (p.Asp602Val)
c.1817A>T (p.Asp606Val)
c.2024A>T (p.Asp675Val)
n.478+21973T>A
n.563+21973T>A
c.2042A>T (p.Asp681Val)
4g.47936677T>CCA96688043CNGA1,NIPAL1c.1805A>G (p.Asp602Gly)
c.1817A>G (p.Asp606Gly)
c.2024A>G (p.Asp675Gly)
n.478+21973T>C
n.563+21973T>C
c.2042A>G (p.Asp681Gly)
 dbSNP gnomAD v4
4g.47936677T>GCA356823663CNGA1,NIPAL1c.1805A>C (p.Asp602Ala)
c.1817A>C (p.Asp606Ala)
c.2024A>C (p.Asp675Ala)
n.478+21973T>G
n.563+21973T>G
c.2042A>C (p.Asp681Ala)
4g.47936677T=CA1455551669CNGA1,NIPAL1c.1805A= (p.Asp602=)
c.1817A= (p.Asp606=)
c.2024A= (p.Asp675=)
n.478+21973T=
n.563+21973T=
c.2042A= (p.Asp681=)
4g.47936678C>ACA356823668CNGA1,NIPAL1c.1804G>T (p.Asp602Tyr)
c.1816G>T (p.Asp606Tyr)
c.2023G>T (p.Asp675Tyr)
n.478+21974C>A
n.563+21974C>A
c.2041G>T (p.Asp681Tyr)
4g.47936678C>GCA356823670CNGA1,NIPAL1c.1804G>C (p.Asp602His)
c.1816G>C (p.Asp606His)
c.2023G>C (p.Asp675His)
n.478+21974C>G
n.563+21974C>G
c.2041G>C (p.Asp681His)
 COSMIC COSMIC
4g.47936678C>TCA356823671CNGA1,NIPAL1c.1804G>A (p.Asp602Asn)
c.1816G>A (p.Asp606Asn)
c.2023G>A (p.Asp675Asn)
n.478+21974C>T
n.563+21974C>T
c.2041G>A (p.Asp681Asn)
4g.47936679T>ACA356823674CNGA1,NIPAL1c.1803A>T (p.Lys601Asn)
c.1815A>T (p.Lys605Asn)
c.2022A>T (p.Lys674Asn)
n.478+21975T>A
n.563+21975T>A
c.2040A>T (p.Lys680Asn)
4g.47936679T>CCA2911010CNGA1,NIPAL1c.1803A>G (p.Lys601=)
c.1815A>G (p.Lys605=)
c.2022A>G (p.Lys674=)
n.478+21975T>C
n.563+21975T>C
c.2040A>G (p.Lys680=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936679T>GCA356823677CNGA1,NIPAL1c.1803A>C (p.Lys601Asn)
c.1815A>C (p.Lys605Asn)
c.2022A>C (p.Lys674Asn)
n.478+21975T>G
n.563+21975T>G
c.2040A>C (p.Lys680Asn)
4g.47936679T=CA1455551670CNGA1,NIPAL1c.1803A= (p.Lys601=)
c.1815A= (p.Lys605=)
c.2022A= (p.Lys674=)
n.478+21975T=
n.563+21975T=
c.2040A= (p.Lys680=)
4g.47936680T>ACA356823681CNGA1,NIPAL1c.1802A>T (p.Lys601Ile)
c.1814A>T (p.Lys605Ile)
c.2021A>T (p.Lys674Ile)
n.478+21976T>A
n.563+21976T>A
c.2039A>T (p.Lys680Ile)
4g.47936680T>CCA356823683CNGA1,NIPAL1c.1802A>G (p.Lys601Arg)
c.1814A>G (p.Lys605Arg)
c.2021A>G (p.Lys674Arg)
n.478+21976T>C
n.563+21976T>C
c.2039A>G (p.Lys680Arg)
4g.47936680T>GCA356823684CNGA1,NIPAL1c.1802A>C (p.Lys601Thr)
c.1814A>C (p.Lys605Thr)
c.2021A>C (p.Lys674Thr)
n.478+21976T>G
n.563+21976T>G
c.2039A>C (p.Lys680Thr)
4g.47936681T>ACA356823687CNGA1,NIPAL1c.1801A>T (p.Lys601Ter)
c.1813A>T (p.Lys605Ter)
c.2020A>T (p.Lys674Ter)
n.478+21977T>A
n.563+21977T>A
c.2038A>T (p.Lys680Ter)
4g.47936681T>CCA356823689CNGA1,NIPAL1c.1801A>G (p.Lys601Glu)
c.1813A>G (p.Lys605Glu)
c.2020A>G (p.Lys674Glu)
n.478+21977T>C
n.563+21977T>C
c.2038A>G (p.Lys680Glu)
 gnomAD v4
4g.47936681T>GCA2911011CNGA1,NIPAL1c.1801A>C (p.Lys601Gln)
c.1813A>C (p.Lys605Gln)
c.2020A>C (p.Lys674Gln)
n.478+21977T>G
n.563+21977T>G
c.2038A>C (p.Lys680Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936681T=CA1455551671CNGA1,NIPAL1c.1801A= (p.Lys601=)
c.1813A= (p.Lys605=)
c.2020A= (p.Lys674=)
n.478+21977T=
n.563+21977T=
c.2038A= (p.Lys680=)
4g.47936682C>ACA356823693CNGA1,NIPAL1c.1800G>T (p.Met600Ile)
c.1812G>T (p.Met604Ile)
c.2019G>T (p.Met673Ile)
n.478+21978C>A
n.563+21978C>A
c.2037G>T (p.Met679Ile)
4g.47936682C>GCA356823697CNGA1,NIPAL1c.1800G>C (p.Met600Ile)
c.1812G>C (p.Met604Ile)
c.2019G>C (p.Met673Ile)
n.478+21978C>G
n.563+21978C>G
c.2037G>C (p.Met679Ile)
4g.47936682C>TCA356823695CNGA1,NIPAL1c.1800G>A (p.Met600Ile)
c.1812G>A (p.Met604Ile)
c.2019G>A (p.Met673Ile)
n.478+21978C>T
n.563+21978C>T
c.2037G>A (p.Met679Ile)
4g.47936683A>CCA356823699CNGA1,NIPAL1c.1799T>G (p.Met600Arg)
c.1811T>G (p.Met604Arg)
c.2018T>G (p.Met673Arg)
n.478+21979A>C
n.563+21979A>C
c.2036T>G (p.Met679Arg)
4g.47936683A>GCA356823702CNGA1,NIPAL1c.1799T>C (p.Met600Thr)
c.1811T>C (p.Met604Thr)
c.2018T>C (p.Met673Thr)
n.478+21979A>G
n.563+21979A>G
c.2036T>C (p.Met679Thr)
4g.47936683A>TCA356823704CNGA1,NIPAL1c.1799T>A (p.Met600Lys)
c.1811T>A (p.Met604Lys)
c.2018T>A (p.Met673Lys)
n.478+21979A>T
n.563+21979A>T
c.2036T>A (p.Met679Lys)
4g.47936684T>ACA356823705CNGA1,NIPAL1c.1798A>T (p.Met600Leu)
c.1810A>T (p.Met604Leu)
c.2017A>T (p.Met673Leu)
n.478+21980T>A
n.563+21980T>A
c.2035A>T (p.Met679Leu)
4g.47936684T>CCA356823706CNGA1,NIPAL1c.1798A>G (p.Met600Val)
c.1810A>G (p.Met604Val)
c.2017A>G (p.Met673Val)
n.478+21980T>C
n.563+21980T>C
c.2035A>G (p.Met679Val)
4g.47936684T>GCA356823707CNGA1,NIPAL1c.1798A>C (p.Met600Leu)
c.1810A>C (p.Met604Leu)
c.2017A>C (p.Met673Leu)
n.478+21980T>G
n.563+21980T>G
c.2035A>C (p.Met679Leu)
4g.47936685T>ACA356823709CNGA1,NIPAL1c.1797A>T (p.Leu599Phe)
c.1809A>T (p.Leu603Phe)
c.2016A>T (p.Leu672Phe)
n.478+21981T>A
n.563+21981T>A
c.2034A>T (p.Leu678Phe)
4g.47936685T>CCA439403913CNGA1,NIPAL1c.1797A>G (p.Leu599=)
c.1809A>G (p.Leu603=)
c.2016A>G (p.Leu672=)
n.478+21981T>C
n.563+21981T>C
c.2034A>G (p.Leu678=)
4g.47936685T>GCA356823708CNGA1,NIPAL1c.1797A>C (p.Leu599Phe)
c.1809A>C (p.Leu603Phe)
c.2016A>C (p.Leu672Phe)
n.478+21981T>G
n.563+21981T>G
c.2034A>C (p.Leu678Phe)
4g.47936686A>CCA356823710CNGA1,NIPAL1c.1796T>G (p.Leu599Ter)
c.1808T>G (p.Leu603Ter)
c.2015T>G (p.Leu672Ter)
n.478+21982A>C
n.563+21982A>C
c.2033T>G (p.Leu678Ter)
4g.47936686A>GCA356823711CNGA1,NIPAL1c.1796T>C (p.Leu599Ser)
c.1808T>C (p.Leu603Ser)
c.2015T>C (p.Leu672Ser)
n.478+21982A>G
n.563+21982A>G
c.2033T>C (p.Leu678Ser)
4g.47936686A>TCA356823712CNGA1,NIPAL1c.1796T>A (p.Leu599Ter)
c.1808T>A (p.Leu603Ter)
c.2015T>A (p.Leu672Ter)
n.478+21982A>T
n.563+21982A>T
c.2033T>A (p.Leu678Ter)
4g.47936687A>CCA356823713CNGA1,NIPAL1c.1795T>G (p.Leu599Val)
c.1807T>G (p.Leu603Val)
c.2014T>G (p.Leu672Val)
n.478+21983A>C
n.563+21983A>C
c.2032T>G (p.Leu678Val)
 COSMIC COSMIC
4g.47936687A>GCA439403914CNGA1,NIPAL1c.1795T>C (p.Leu599=)
c.1807T>C (p.Leu603=)
c.2014T>C (p.Leu672=)
n.478+21983A>G
n.563+21983A>G
c.2032T>C (p.Leu678=)
4g.47936687A>TCA356823714CNGA1,NIPAL1c.1795T>A (p.Leu599Ile)
c.1807T>A (p.Leu603Ile)
c.2014T>A (p.Leu672Ile)
n.478+21983A>T
n.563+21983A>T
c.2032T>A (p.Leu678Ile)
4g.47936688A=CA1455551672CNGA1,NIPAL1c.1794T= (p.Ile598=)
c.1806T= (p.Ile602=)
c.2013T= (p.Ile671=)
n.478+21984A=
n.563+21984A=
c.2031T= (p.Ile677=)
4g.47936688A>CCA356823715CNGA1,NIPAL1c.1794T>G (p.Ile598Met)
c.1806T>G (p.Ile602Met)
c.2013T>G (p.Ile671Met)
n.478+21984A>C
n.563+21984A>C
c.2031T>G (p.Ile677Met)
4g.47936688A>GCA439403916CNGA1,NIPAL1c.1794T>C (p.Ile598=)
c.1806T>C (p.Ile602=)
c.2013T>C (p.Ile671=)
n.478+21984A>G
n.563+21984A>G
c.2031T>C (p.Ile677=)
 dbSNP gnomAD v4
4g.47936688A>TCA439403915CNGA1,NIPAL1c.1794T>A (p.Ile598=)
c.1806T>A (p.Ile602=)
c.2013T>A (p.Ile671=)
n.478+21984A>T
n.563+21984A>T
c.2031T>A (p.Ile677=)
4g.47936689A>CCA356823718CNGA1,NIPAL1c.1793T>G (p.Ile598Ser)
c.1805T>G (p.Ile602Ser)
c.2012T>G (p.Ile671Ser)
n.478+21985A>C
n.563+21985A>C
c.2030T>G (p.Ile677Ser)
4g.47936689A>GCA356823716CNGA1,NIPAL1c.1793T>C (p.Ile598Thr)
c.1805T>C (p.Ile602Thr)
c.2012T>C (p.Ile671Thr)
n.478+21985A>G
n.563+21985A>G
c.2030T>C (p.Ile677Thr)
 COSMIC
4g.47936689A>TCA356823717CNGA1,NIPAL1c.1793T>A (p.Ile598Asn)
c.1805T>A (p.Ile602Asn)
c.2012T>A (p.Ile671Asn)
n.478+21985A>T
n.563+21985A>T
c.2030T>A (p.Ile677Asn)
4g.47936690T>ACA356823719CNGA1,NIPAL1c.1792A>T (p.Ile598Phe)
c.1804A>T (p.Ile602Phe)
c.2011A>T (p.Ile671Phe)
n.478+21986T>A
n.563+21986T>A
c.2029A>T (p.Ile677Phe)
4g.47936690T>CCA356823720CNGA1,NIPAL1c.1792A>G (p.Ile598Val)
c.1804A>G (p.Ile602Val)
c.2011A>G (p.Ile671Val)
n.478+21986T>C
n.563+21986T>C
c.2029A>G (p.Ile677Val)
4g.47936690T>GCA356823721CNGA1,NIPAL1c.1792A>C (p.Ile598Leu)
c.1804A>C (p.Ile602Leu)
c.2011A>C (p.Ile671Leu)
n.478+21986T>G
n.563+21986T>G
c.2029A>C (p.Ile677Leu)
4g.47936691C>ACA356823722CNGA1,NIPAL1c.1791G>T (p.Gln597His)
c.1803G>T (p.Gln601His)
c.2010G>T (p.Gln670His)
n.478+21987C>A
n.563+21987C>A
c.2028G>T (p.Gln676His)
4g.47936691C>GCA356823723CNGA1,NIPAL1c.1791G>C (p.Gln597His)
c.1803G>C (p.Gln601His)
c.2010G>C (p.Gln670His)
n.478+21987C>G
n.563+21987C>G
c.2028G>C (p.Gln676His)
4g.47936691C>TCA439403920CNGA1,NIPAL1c.1791G>A (p.Gln597=)
c.1803G>A (p.Gln601=)
c.2010G>A (p.Gln670=)
n.478+21987C>T
n.563+21987C>T
c.2028G>A (p.Gln676=)
4g.47936692T>ACA356823724CNGA1,NIPAL1c.1790A>T (p.Gln597Leu)
c.1802A>T (p.Gln601Leu)
c.2009A>T (p.Gln670Leu)
n.478+21988T>A
n.563+21988T>A
c.2027A>T (p.Gln676Leu)
4g.47936692T>CCA356823725CNGA1,NIPAL1c.1790A>G (p.Gln597Arg)
c.1802A>G (p.Gln601Arg)
c.2009A>G (p.Gln670Arg)
n.478+21988T>C
n.563+21988T>C
c.2027A>G (p.Gln676Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.47936692T>GCA356823726CNGA1,NIPAL1c.1790A>C (p.Gln597Pro)
c.1802A>C (p.Gln601Pro)
c.2009A>C (p.Gln670Pro)
n.478+21988T>G
n.563+21988T>G
c.2027A>C (p.Gln676Pro)
4g.47936693G>ACA356823727CNGA1,NIPAL1c.1789C>T (p.Gln597Ter)
c.1801C>T (p.Gln601Ter)
c.2008C>T (p.Gln670Ter)
n.478+21989G>A
n.563+21989G>A
c.2026C>T (p.Gln676Ter)
 gnomAD v4
4g.47936693G>CCA356823728CNGA1,NIPAL1c.1789C>G (p.Gln597Glu)
c.1801C>G (p.Gln601Glu)
c.2008C>G (p.Gln670Glu)
n.478+21989G>C
n.563+21989G>C
c.2026C>G (p.Gln676Glu)
4g.47936693G>TCA356823729CNGA1,NIPAL1c.1789C>A (p.Gln597Lys)
c.1801C>A (p.Gln601Lys)
c.2008C>A (p.Gln670Lys)
n.478+21989G>T
n.563+21989G>T
c.2026C>A (p.Gln676Lys)
 gnomAD v4
4g.47936694C>ACA356823730CNGA1,NIPAL1c.1788G>T (p.Lys596Asn)
c.1800G>T (p.Lys600Asn)
c.2007G>T (p.Lys669Asn)
n.478+21990C>A
n.563+21990C>A
c.2025G>T (p.Lys675Asn)
4g.47936694C>GCA356823731CNGA1,NIPAL1c.1788G>C (p.Lys596Asn)
c.1800G>C (p.Lys600Asn)
c.2007G>C (p.Lys669Asn)
n.478+21990C>G
n.563+21990C>G
c.2025G>C (p.Lys675Asn)
4g.47936694C>TCA439403923CNGA1,NIPAL1c.1788G>A (p.Lys596=)
c.1800G>A (p.Lys600=)
c.2007G>A (p.Lys669=)
n.478+21990C>T
n.563+21990C>T
c.2025G>A (p.Lys675=)
4g.47936695T>ACA356823733CNGA1,NIPAL1c.1787A>T (p.Lys596Met)
c.1799A>T (p.Lys600Met)
c.2006A>T (p.Lys669Met)
n.478+21991T>A
n.563+21991T>A
c.2024A>T (p.Lys675Met)
4g.47936695T>CCA2911012CNGA1,NIPAL1c.1787A>G (p.Lys596Arg)
c.1799A>G (p.Lys600Arg)
c.2006A>G (p.Lys669Arg)
n.478+21991T>C
n.563+21991T>C
c.2024A>G (p.Lys675Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.47936695T>GCA356823732CNGA1,NIPAL1c.1787A>C (p.Lys596Thr)
c.1799A>C (p.Lys600Thr)
c.2006A>C (p.Lys669Thr)
n.478+21991T>G
n.563+21991T>G
c.2024A>C (p.Lys675Thr)
4g.47936695T=CA1455551673CNGA1,NIPAL1c.1787A= (p.Lys596=)
c.1799A= (p.Lys600=)
c.2006A= (p.Lys669=)
n.478+21991T=
n.563+21991T=
c.2024A= (p.Lys675=)
4g.47936696T>ACA356823734CNGA1,NIPAL1c.1786A>T (p.Lys596Ter)
c.1798A>T (p.Lys600Ter)
c.2005A>T (p.Lys669Ter)
n.478+21992T>A
n.563+21992T>A
c.2023A>T (p.Lys675Ter)
4g.47936696T>CCA356823735CNGA1,NIPAL1c.1786A>G (p.Lys596Glu)
c.1798A>G (p.Lys600Glu)
c.2005A>G (p.Lys669Glu)
n.478+21992T>C
n.563+21992T>C
c.2023A>G (p.Lys675Glu)
 gnomAD v4
4g.47936696T>GCA356823736CNGA1,NIPAL1c.1786A>C (p.Lys596Gln)
c.1798A>C (p.Lys600Gln)
c.2005A>C (p.Lys669Gln)
n.478+21992T>G
n.563+21992T>G
c.2023A>C (p.Lys675Gln)
4g.47936697C>ACA439403926CNGA1,NIPAL1c.1785G>T (p.Gly595=)
c.1797G>T (p.Gly599=)
c.2004G>T (p.Gly668=)
n.478+21993C>A
n.563+21993C>A
c.2022G>T (p.Gly674=)
4g.47936697C=CA1455551674CNGA1,NIPAL1c.1785G= (p.Gly595=)
c.1797G= (p.Gly599=)
c.2004G= (p.Gly668=)
n.478+21993C=
n.563+21993C=
c.2022G= (p.Gly674=)
4g.47936697C>GCA439403927CNGA1,NIPAL1c.1785G>C (p.Gly595=)
c.1797G>C (p.Gly599=)
c.2004G>C (p.Gly668=)
n.478+21993C>G
n.563+21993C>G
c.2022G>C (p.Gly674=)
4g.47936697C>TCA439403929CNGA1,NIPAL1c.1785G>A (p.Gly595=)
c.1797G>A (p.Gly599=)
c.2004G>A (p.Gly668=)
n.478+21993C>T
n.563+21993C>T
c.2022G>A (p.Gly674=)
 dbSNP
4g.47936698C>ACA356823737CNGA1,NIPAL1c.1784G>T (p.Gly595Val)
c.1796G>T (p.Gly599Val)
c.2003G>T (p.Gly668Val)
n.478+21994C>A
n.563+21994C>A
c.2021G>T (p.Gly674Val)
4g.47936698C>GCA356823738CNGA1,NIPAL1c.1784G>C (p.Gly595Ala)
c.1796G>C (p.Gly599Ala)
c.2003G>C (p.Gly668Ala)
n.478+21994C>G
n.563+21994C>G
c.2021G>C (p.Gly674Ala)
4g.47936698C>TCA356823739CNGA1,NIPAL1c.1784G>A (p.Gly595Glu)
c.1796G>A (p.Gly599Glu)
c.2003G>A (p.Gly668Glu)
n.478+21994C>T
n.563+21994C>T
c.2021G>A (p.Gly674Glu)
4g.47936698_47936699delinsATCA645531848CNGA1,NIPAL1c.1783_1784delinsAT (p.Gly595Met)
c.1795_1796delinsAT (p.Gly599Met)
c.2002_2003delinsAT (p.Gly668Met)
n.478+21994_478+21995delinsAT
n.563+21994_563+21995delinsAT
c.2020_2021delinsAT (p.Gly674Met)
 COSMIC COSMIC
4g.47936699C>ACA356823740CNGA1,NIPAL1c.1783G>T (p.Gly595Trp)
c.1795G>T (p.Gly599Trp)
c.2002G>T (p.Gly668Trp)
n.478+21995C>A
n.563+21995C>A
c.2020G>T (p.Gly674Trp)
4g.47936699C>GCA356823741CNGA1,NIPAL1c.1783G>C (p.Gly595Arg)
c.1795G>C (p.Gly599Arg)
c.2002G>C (p.Gly668Arg)
n.478+21995C>G
n.563+21995C>G
c.2020G>C (p.Gly674Arg)
4g.47936699C>TCA356823742CNGA1,NIPAL1c.1783G>A (p.Gly595Arg)
c.1795G>A (p.Gly599Arg)
c.2002G>A (p.Gly668Arg)
n.478+21995C>T
n.563+21995C>T
c.2020G>A (p.Gly674Arg)
 COSMIC
4g.47936700T>ACA356823743CNGA1,NIPAL1c.1782A>T (p.Lys594Asn)
c.1794A>T (p.Lys598Asn)
c.2001A>T (p.Lys667Asn)
n.478+21996T>A
n.563+21996T>A
c.2019A>T (p.Lys673Asn)
4g.47936700T>CCA2911013CNGA1,NIPAL1c.1782A>G (p.Lys594=)
c.1794A>G (p.Lys598=)
c.2001A>G (p.Lys667=)
n.478+21996T>C
n.563+21996T>C
c.2019A>G (p.Lys673=)
 dbSNP ExAC gnomAD v2
4g.47936700T>GCA356823744CNGA1,NIPAL1c.1782A>C (p.Lys594Asn)
c.1794A>C (p.Lys598Asn)
c.2001A>C (p.Lys667Asn)
n.478+21996T>G
n.563+21996T>G
c.2019A>C (p.Lys673Asn)
4g.47936700T=CA1455551675CNGA1,NIPAL1c.1782A= (p.Lys594=)
c.1794A= (p.Lys598=)
c.2001A= (p.Lys667=)
n.478+21996T=
n.563+21996T=
c.2019A= (p.Lys673=)
4g.47936701T>ACA356823749CNGA1,NIPAL1c.1781A>T (p.Lys594Ile)
c.1793A>T (p.Lys598Ile)
c.2000A>T (p.Lys667Ile)
n.478+21997T>A
n.563+21997T>A
c.2018A>T (p.Lys673Ile)
4g.47936701T>CCA356823747CNGA1,NIPAL1c.1781A>G (p.Lys594Arg)
c.1793A>G (p.Lys598Arg)
c.2000A>G (p.Lys667Arg)
n.478+21997T>C
n.563+21997T>C
c.2018A>G (p.Lys673Arg)
4g.47936701T>GCA2911014CNGA1,NIPAL1c.1781A>C (p.Lys594Thr)
c.1793A>C (p.Lys598Thr)
c.2000A>C (p.Lys667Thr)
n.478+21997T>G
n.563+21997T>G
c.2018A>C (p.Lys673Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936701T=CA1455551676CNGA1,NIPAL1c.1781A= (p.Lys594=)
c.1793A= (p.Lys598=)
c.2000A= (p.Lys667=)
n.478+21997T=
n.563+21997T=
c.2018A= (p.Lys673=)
4g.47936702T>ACA356823751CNGA1,NIPAL1c.1780A>T (p.Lys594Ter)
c.1792A>T (p.Lys598Ter)
c.1999A>T (p.Lys667Ter)
n.478+21998T>A
n.563+21998T>A
c.2017A>T (p.Lys673Ter)
4g.47936702T>CCA356823753CNGA1,NIPAL1c.1780A>G (p.Lys594Glu)
c.1792A>G (p.Lys598Glu)
c.1999A>G (p.Lys667Glu)
n.478+21998T>C
n.563+21998T>C
c.2017A>G (p.Lys673Glu)
4g.47936702T>GCA356823755CNGA1,NIPAL1c.1780A>C (p.Lys594Gln)
c.1792A>C (p.Lys598Gln)
c.1999A>C (p.Lys667Gln)
n.478+21998T>G
n.563+21998T>G
c.2017A>C (p.Lys673Gln)
4g.47936703C>ACA356823757CNGA1,NIPAL1c.1779G>T (p.Glu593Asp)
c.1791G>T (p.Glu597Asp)
c.1998G>T (p.Glu666Asp)
n.478+21999C>A
n.563+21999C>A
c.2016G>T (p.Glu672Asp)
4g.47936703C=CA1455551677CNGA1,NIPAL1c.1779G= (p.Glu593=)
c.1791G= (p.Glu597=)
c.1998G= (p.Glu666=)
n.478+21999C=
n.563+21999C=
c.2016G= (p.Glu672=)
4g.47936703C>GCA356823758CNGA1,NIPAL1c.1779G>C (p.Glu593Asp)
c.1791G>C (p.Glu597Asp)
c.1998G>C (p.Glu666Asp)
n.478+21999C>G
n.563+21999C>G
c.2016G>C (p.Glu672Asp)
4g.47936703C>TCA439403933CNGA1,NIPAL1c.1779G>A (p.Glu593=)
c.1791G>A (p.Glu597=)
c.1998G>A (p.Glu666=)
n.478+21999C>T
n.563+21999C>T
c.2016G>A (p.Glu672=)
 ClinVar dbSNP
4g.47936704T>ACA356823760CNGA1,NIPAL1c.1778A>T (p.Glu593Val)
c.1790A>T (p.Glu597Val)
c.1997A>T (p.Glu666Val)
n.478+22000T>A
n.563+22000T>A
c.2015A>T (p.Glu672Val)
4g.47936704T>CCA356823762CNGA1,NIPAL1c.1778A>G (p.Glu593Gly)
c.1790A>G (p.Glu597Gly)
c.1997A>G (p.Glu666Gly)
n.478+22000T>C
n.563+22000T>C
c.2015A>G (p.Glu672Gly)
4g.47936704T>GCA356823764CNGA1,NIPAL1c.1778A>C (p.Glu593Ala)
c.1790A>C (p.Glu597Ala)
c.1997A>C (p.Glu666Ala)
n.478+22000T>G
n.563+22000T>G
c.2015A>C (p.Glu672Ala)
4g.47936705C>ACA356823766CNGA1,NIPAL1c.1777G>T (p.Glu593Ter)
c.1789G>T (p.Glu597Ter)
c.1996G>T (p.Glu666Ter)
n.478+22001C>A
n.563+22001C>A
c.2014G>T (p.Glu672Ter)
4g.47936705C>GCA356823768CNGA1,NIPAL1c.1777G>C (p.Glu593Gln)
c.1789G>C (p.Glu597Gln)
c.1996G>C (p.Glu666Gln)
n.478+22001C>G
n.563+22001C>G
c.2014G>C (p.Glu672Gln)
4g.47936705C>TCA356823770CNGA1,NIPAL1c.1777G>A (p.Glu593Lys)
c.1789G>A (p.Glu597Lys)
c.1996G>A (p.Glu666Lys)
n.478+22001C>T
n.563+22001C>T
c.2014G>A (p.Glu672Lys)
4g.47936706T>ACA356823773CNGA1,NIPAL1c.1776A>T (p.Glu592Asp)
c.1788A>T (p.Glu596Asp)
c.1995A>T (p.Glu665Asp)
n.478+22002T>A
n.563+22002T>A
c.2013A>T (p.Glu671Asp)
4g.47936706T>CCA439403935CNGA1,NIPAL1c.1776A>G (p.Glu592=)
c.1788A>G (p.Glu596=)
c.1995A>G (p.Glu665=)
n.478+22002T>C
n.563+22002T>C
c.2013A>G (p.Glu671=)
4g.47936706T>GCA356823775CNGA1,NIPAL1c.1776A>C (p.Glu592Asp)
c.1788A>C (p.Glu596Asp)
c.1995A>C (p.Glu665Asp)
n.478+22002T>G
n.563+22002T>G
c.2013A>C (p.Glu671Asp)
4g.47936707T>ACA356823781CNGA1,NIPAL1c.1775A>T (p.Glu592Val)
c.1787A>T (p.Glu596Val)
c.1994A>T (p.Glu665Val)
n.478+22003T>A
n.563+22003T>A
c.2012A>T (p.Glu671Val)
4g.47936707T>CCA356823784CNGA1,NIPAL1c.1775A>G (p.Glu592Gly)
c.1787A>G (p.Glu596Gly)
c.1994A>G (p.Glu665Gly)
n.478+22003T>C
n.563+22003T>C
c.2012A>G (p.Glu671Gly)
4g.47936707T>GCA356823778CNGA1,NIPAL1c.1775A>C (p.Glu592Ala)
c.1787A>C (p.Glu596Ala)
c.1994A>C (p.Glu665Ala)
n.478+22003T>G
n.563+22003T>G
c.2012A>C (p.Glu671Ala)
4g.47936708C>ACA356823787CNGA1,NIPAL1c.1774G>T (p.Glu592Ter)
c.1786G>T (p.Glu596Ter)
c.1993G>T (p.Glu665Ter)
n.478+22004C>A
n.563+22004C>A
c.2011G>T (p.Glu671Ter)
4g.47936708C>GCA356823793CNGA1,NIPAL1c.1774G>C (p.Glu592Gln)
c.1786G>C (p.Glu596Gln)
c.1993G>C (p.Glu665Gln)
n.478+22004C>G
n.563+22004C>G
c.2011G>C (p.Glu671Gln)
4g.47936708C>TCA356823791CNGA1,NIPAL1c.1774G>A (p.Glu592Lys)
c.1786G>A (p.Glu596Lys)
c.1993G>A (p.Glu665Lys)
n.478+22004C>T
n.563+22004C>T
c.2011G>A (p.Glu671Lys)
4g.47936709C>ACA439403937CNGA1,NIPAL1c.1773G>T (p.Leu591=)
c.1785G>T (p.Leu595=)
c.1992G>T (p.Leu664=)
n.478+22005C>A
n.563+22005C>A
c.2010G>T (p.Leu670=)
4g.47936709C=CA1455551678CNGA1,NIPAL1c.1773G= (p.Leu591=)
c.1785G= (p.Leu595=)
c.1992G= (p.Leu664=)
n.478+22005C=
n.563+22005C=
c.2010G= (p.Leu670=)
4g.47936709C>GCA439403940CNGA1,NIPAL1c.1773G>C (p.Leu591=)
c.1785G>C (p.Leu595=)
c.1992G>C (p.Leu664=)
n.478+22005C>G
n.563+22005C>G
c.2010G>C (p.Leu670=)
4g.47936709C>TCA96688072CNGA1,NIPAL1c.1773G>A (p.Leu591=)
c.1785G>A (p.Leu595=)
c.1992G>A (p.Leu664=)
n.478+22005C>T
n.563+22005C>T
c.2010G>A (p.Leu670=)
 dbSNP
4g.47936710A>CCA356823799CNGA1,NIPAL1c.1772T>G (p.Leu591Arg)
c.1784T>G (p.Leu595Arg)
c.1991T>G (p.Leu664Arg)
n.478+22006A>C
n.563+22006A>C
c.2009T>G (p.Leu670Arg)
4g.47936710A>GCA356823802CNGA1,NIPAL1c.1772T>C (p.Leu591Pro)
c.1784T>C (p.Leu595Pro)
c.1991T>C (p.Leu664Pro)
n.478+22006A>G
n.563+22006A>G
c.2009T>C (p.Leu670Pro)
4g.47936710A>TCA356823805CNGA1,NIPAL1c.1772T>A (p.Leu591Gln)
c.1784T>A (p.Leu595Gln)
c.1991T>A (p.Leu664Gln)
n.478+22006A>T
n.563+22006A>T
c.2009T>A (p.Leu670Gln)
4g.47936711G>ACA439403941CNGA1,NIPAL1c.1771C>T (p.Leu591=)
c.1783C>T (p.Leu595=)
c.1990C>T (p.Leu664=)
n.478+22007G>A
n.563+22007G>A
c.2008C>T (p.Leu670=)
4g.47936711G>CCA356823808CNGA1,NIPAL1c.1771C>G (p.Leu591Val)
c.1783C>G (p.Leu595Val)
c.1990C>G (p.Leu664Val)
n.478+22007G>C
n.563+22007G>C
c.2008C>G (p.Leu670Val)
4g.47936711G>TCA356823810CNGA1,NIPAL1c.1771C>A (p.Leu591Met)
c.1783C>A (p.Leu595Met)
c.1990C>A (p.Leu664Met)
n.478+22007G>T
n.563+22007G>T
c.2008C>A (p.Leu670Met)
4g.47936712C>ACA2911015CNGA1,NIPAL1c.1770G>T (p.Met590Ile)
c.1782G>T (p.Met594Ile)
c.1989G>T (p.Met663Ile)
n.478+22008C>A
n.563+22008C>A
c.2007G>T (p.Met669Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936712C=CA1455551679CNGA1,NIPAL1c.1770G= (p.Met590=)
c.1782G= (p.Met594=)
c.1989G= (p.Met663=)
n.478+22008C=
n.563+22008C=
c.2007G= (p.Met669=)
4g.47936712C>GCA356823817CNGA1,NIPAL1c.1770G>C (p.Met590Ile)
c.1782G>C (p.Met594Ile)
c.1989G>C (p.Met663Ile)
n.478+22008C>G
n.563+22008C>G
c.2007G>C (p.Met669Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.47936712C>TCA356823821CNGA1,NIPAL1c.1770G>A (p.Met590Ile)
c.1782G>A (p.Met594Ile)
c.1989G>A (p.Met663Ile)
n.478+22008C>T
n.563+22008C>T
c.2007G>A (p.Met669Ile)
4g.47936713A=CA1455551680CNGA1,NIPAL1c.1769T= (p.Met590=)
c.1781T= (p.Met594=)
c.1988T= (p.Met663=)
n.478+22009A=
n.563+22009A=
c.2006T= (p.Met669=)
4g.47936713A>CCA2911017CNGA1,NIPAL1c.1769T>G (p.Met590Arg)
c.1781T>G (p.Met594Arg)
c.1988T>G (p.Met663Arg)
n.478+22009A>C
n.563+22009A>C
c.2006T>G (p.Met669Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936713A>GCA2911016CNGA1,NIPAL1c.1769T>C (p.Met590Thr)
c.1781T>C (p.Met594Thr)
c.1988T>C (p.Met663Thr)
n.478+22009A>G
n.563+22009A>G
c.2006T>C (p.Met669Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936713A>TCA356823828CNGA1,NIPAL1c.1769T>A (p.Met590Lys)
c.1781T>A (p.Met594Lys)
c.1988T>A (p.Met663Lys)
n.478+22009A>T
n.563+22009A>T
c.2006T>A (p.Met669Lys)
4g.47936714T>ACA356823833CNGA1,NIPAL1c.1768A>T (p.Met590Leu)
c.1780A>T (p.Met594Leu)
c.1987A>T (p.Met663Leu)
n.478+22010T>A
n.563+22010T>A
c.2005A>T (p.Met669Leu)
4g.47936714T>CCA2911018CNGA1,NIPAL1c.1768A>G (p.Met590Val)
c.1780A>G (p.Met594Val)
c.1987A>G (p.Met663Val)
n.478+22010T>C
n.563+22010T>C
c.2005A>G (p.Met669Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936714T>GCA356823835CNGA1,NIPAL1c.1768A>C (p.Met590Leu)
c.1780A>C (p.Met594Leu)
c.1987A>C (p.Met663Leu)
n.478+22010T>G
n.563+22010T>G
c.2005A>C (p.Met669Leu)
4g.47936714T=CA1455551681CNGA1,NIPAL1c.1768A= (p.Met590=)
c.1780A= (p.Met594=)
c.1987A= (p.Met663=)
n.478+22010T=
n.563+22010T=
c.2005A= (p.Met669=)
4g.47936715A=CA1455551682CNGA1,NIPAL1c.1767T= (p.Thr589=)
c.1779T= (p.Thr593=)
c.1986T= (p.Thr662=)
n.478+22011A=
n.563+22011A=
c.2004T= (p.Thr668=)
4g.47936715A>CCA439403942CNGA1,NIPAL1c.1767T>G (p.Thr589=)
c.1779T>G (p.Thr593=)
c.1986T>G (p.Thr662=)
n.478+22011A>C
n.563+22011A>C
c.2004T>G (p.Thr668=)
4g.47936715A>GCA2911019CNGA1,NIPAL1c.1767T>C (p.Thr589=)
c.1779T>C (p.Thr593=)
c.1986T>C (p.Thr662=)
n.478+22011A>G
n.563+22011A>G
c.2004T>C (p.Thr668=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936715A>TCA439403943CNGA1,NIPAL1c.1767T>A (p.Thr589=)
c.1779T>A (p.Thr593=)
c.1986T>A (p.Thr662=)
n.478+22011A>T
n.563+22011A>T
c.2004T>A (p.Thr668=)
4g.47936716G>ACA356823844CNGA1,NIPAL1c.1766C>T (p.Thr589Ile)
c.1778C>T (p.Thr593Ile)
c.1985C>T (p.Thr662Ile)
n.478+22012G>A
n.563+22012G>A
c.2003C>T (p.Thr668Ile)
4g.47936716G>CCA356823845CNGA1,NIPAL1c.1766C>G (p.Thr589Ser)
c.1778C>G (p.Thr593Ser)
c.1985C>G (p.Thr662Ser)
n.478+22012G>C
n.563+22012G>C
c.2003C>G (p.Thr668Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.47936716G=CA1455551683CNGA1,NIPAL1c.1766C= (p.Thr589=)
c.1778C= (p.Thr593=)
c.1985C= (p.Thr662=)
n.478+22012G=
n.563+22012G=
c.2003C= (p.Thr668=)
4g.47936716G>TCA356823849CNGA1,NIPAL1c.1766C>A (p.Thr589Asn)
c.1778C>A (p.Thr593Asn)
c.1985C>A (p.Thr662Asn)
n.478+22012G>T
n.563+22012G>T
c.2003C>A (p.Thr668Asn)
4g.47936717T>ACA356823853CNGA1,NIPAL1c.1765A>T (p.Thr589Ser)
c.1777A>T (p.Thr593Ser)
c.1984A>T (p.Thr662Ser)
n.478+22013T>A
n.563+22013T>A
c.2002A>T (p.Thr668Ser)
4g.47936717T>CCA356823857CNGA1,NIPAL1c.1765A>G (p.Thr589Ala)
c.1777A>G (p.Thr593Ala)
c.1984A>G (p.Thr662Ala)
n.478+22013T>C
n.563+22013T>C
c.2002A>G (p.Thr668Ala)
4g.47936717T>GCA356823859CNGA1,NIPAL1c.1765A>C (p.Thr589Pro)
c.1777A>C (p.Thr593Pro)
c.1984A>C (p.Thr662Pro)
n.478+22013T>G
n.563+22013T>G
c.2002A>C (p.Thr668Pro)
4g.47936718T>ACA356823864CNGA1,NIPAL1c.1764A>T (p.Lys588Asn)
c.1776A>T (p.Lys592Asn)
c.1983A>T (p.Lys661Asn)
n.478+22014T>A
n.563+22014T>A
c.2001A>T (p.Lys667Asn)
4g.47936718T>CCA439403944CNGA1,NIPAL1c.1764A>G (p.Lys588=)
c.1776A>G (p.Lys592=)
c.1983A>G (p.Lys661=)
n.478+22014T>C
n.563+22014T>C
c.2001A>G (p.Lys667=)
4g.47936718T>GCA356823866CNGA1,NIPAL1c.1764A>C (p.Lys588Asn)
c.1776A>C (p.Lys592Asn)
c.1983A>C (p.Lys661Asn)
n.478+22014T>G
n.563+22014T>G
c.2001A>C (p.Lys667Asn)
 COSMIC
4g.47936719T>ACA356823874CNGA1,NIPAL1c.1763A>T (p.Lys588Ile)
c.1775A>T (p.Lys592Ile)
c.1982A>T (p.Lys661Ile)
n.478+22015T>A
n.563+22015T>A
c.2000A>T (p.Lys667Ile)
4g.47936719T>CCA96688117CNGA1,NIPAL1c.1763A>G (p.Lys588Arg)
c.1775A>G (p.Lys592Arg)
c.1982A>G (p.Lys661Arg)
n.478+22015T>C
n.563+22015T>C
c.2000A>G (p.Lys667Arg)
 dbSNP
4g.47936719T>GCA2911020CNGA1,NIPAL1c.1763A>C (p.Lys588Thr)
c.1775A>C (p.Lys592Thr)
c.1982A>C (p.Lys661Thr)
n.478+22015T>G
n.563+22015T>G
c.2000A>C (p.Lys667Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936719T=CA1455551684CNGA1,NIPAL1c.1763A= (p.Lys588=)
c.1775A= (p.Lys592=)
c.1982A= (p.Lys661=)
n.478+22015T=
n.563+22015T=
c.2000A= (p.Lys667=)
4g.47936720T>ACA356823878CNGA1,NIPAL1c.1762A>T (p.Lys588Ter)
c.1774A>T (p.Lys592Ter)
c.1981A>T (p.Lys661Ter)
n.478+22016T>A
n.563+22016T>A
c.1999A>T (p.Lys667Ter)
4g.47936720T>CCA356823881CNGA1,NIPAL1c.1762A>G (p.Lys588Glu)
c.1774A>G (p.Lys592Glu)
c.1981A>G (p.Lys661Glu)
n.478+22016T>C
n.563+22016T>C
c.1999A>G (p.Lys667Glu)
4g.47936720T>GCA356823883CNGA1,NIPAL1c.1762A>C (p.Lys588Gln)
c.1774A>C (p.Lys592Gln)
c.1981A>C (p.Lys661Gln)
n.478+22016T>G
n.563+22016T>G
c.1999A>C (p.Lys667Gln)
4g.47936721G>ACA439403945CNGA1,NIPAL1c.1761C>T (p.Ala587=)
c.1773C>T (p.Ala591=)
c.1980C>T (p.Ala660=)
n.478+22017G>A
n.563+22017G>A
c.1998C>T (p.Ala666=)
4g.47936721G>CCA439403946CNGA1,NIPAL1c.1761C>G (p.Ala587=)
c.1773C>G (p.Ala591=)
c.1980C>G (p.Ala660=)
n.478+22017G>C
n.563+22017G>C
c.1998C>G (p.Ala666=)
4g.47936721G>TCA439403947CNGA1,NIPAL1c.1761C>A (p.Ala587=)
c.1773C>A (p.Ala591=)
c.1980C>A (p.Ala660=)
n.478+22017G>T
n.563+22017G>T
c.1998C>A (p.Ala666=)
4g.47936722G>ACA356823888CNGA1,NIPAL1c.1760C>T (p.Ala587Val)
c.1772C>T (p.Ala591Val)
c.1979C>T (p.Ala660Val)
n.478+22018G>A
n.563+22018G>A
c.1997C>T (p.Ala666Val)
4g.47936722G>CCA356823891CNGA1,NIPAL1c.1760C>G (p.Ala587Gly)
c.1772C>G (p.Ala591Gly)
c.1979C>G (p.Ala660Gly)
n.478+22018G>C
n.563+22018G>C
c.1997C>G (p.Ala666Gly)
4g.47936722G>TCA356823892CNGA1,NIPAL1c.1760C>A (p.Ala587Asp)
c.1772C>A (p.Ala591Asp)
c.1979C>A (p.Ala660Asp)
n.478+22018G>T
n.563+22018G>T
c.1997C>A (p.Ala666Asp)
 COSMIC
4g.47936723C>ACA356823896CNGA1,NIPAL1c.1759G>T (p.Ala587Ser)
c.1771G>T (p.Ala591Ser)
c.1978G>T (p.Ala660Ser)
n.478+22019C>A
n.563+22019C>A
c.1996G>T (p.Ala666Ser)
4g.47936723C=CA1455551685CNGA1,NIPAL1c.1759G= (p.Ala587=)
c.1771G= (p.Ala591=)
c.1978G= (p.Ala660=)
n.478+22019C=
n.563+22019C=
c.1996G= (p.Ala666=)
4g.47936723C>GCA356823899CNGA1,NIPAL1c.1759G>C (p.Ala587Pro)
c.1771G>C (p.Ala591Pro)
c.1978G>C (p.Ala660Pro)
n.478+22019C>G
n.563+22019C>G
c.1996G>C (p.Ala666Pro)
4g.47936723C>TCA356823901CNGA1,NIPAL1c.1759G>A (p.Ala587Thr)
c.1771G>A (p.Ala591Thr)
c.1978G>A (p.Ala660Thr)
n.478+22019C>T
n.563+22019C>T
c.1996G>A (p.Ala666Thr)
 dbSNP
4g.47936724A>CCA356823903CNGA1,NIPAL1c.1758T>G (p.Asp586Glu)
c.1770T>G (p.Asp590Glu)
c.1977T>G (p.Asp659Glu)
n.478+22020A>C
n.563+22020A>C
c.1995T>G (p.Asp665Glu)
4g.47936724A>GCA439403949CNGA1,NIPAL1c.1758T>C (p.Asp586=)
c.1770T>C (p.Asp590=)
c.1977T>C (p.Asp659=)
n.478+22020A>G
n.563+22020A>G
c.1995T>C (p.Asp665=)
 ClinVar dbSNP
4g.47936724A>TCA356823906CNGA1,NIPAL1c.1758T>A (p.Asp586Glu)
c.1770T>A (p.Asp590Glu)
c.1977T>A (p.Asp659Glu)
n.478+22020A>T
n.563+22020A>T
c.1995T>A (p.Asp665Glu)
4g.47936725T>ACA356823914CNGA1,NIPAL1c.1757A>T (p.Asp586Val)
c.1769A>T (p.Asp590Val)
c.1976A>T (p.Asp659Val)
n.478+22021T>A
n.563+22021T>A
c.1994A>T (p.Asp665Val)
4g.47936725T>CCA356823915CNGA1,NIPAL1c.1757A>G (p.Asp586Gly)
c.1769A>G (p.Asp590Gly)
c.1976A>G (p.Asp659Gly)
n.478+22021T>C
n.563+22021T>C
c.1994A>G (p.Asp665Gly)
 dbSNP gnomAD v3 gnomAD v4
4g.47936725T>GCA356823910CNGA1,NIPAL1c.1757A>C (p.Asp586Ala)
c.1769A>C (p.Asp590Ala)
c.1976A>C (p.Asp659Ala)
n.478+22021T>G
n.563+22021T>G
c.1994A>C (p.Asp665Ala)
4g.47936725T=CA1455551686CNGA1,NIPAL1c.1757A= (p.Asp586=)
c.1769A= (p.Asp590=)
c.1976A= (p.Asp659=)
n.478+22021T=
n.563+22021T=
c.1994A= (p.Asp665=)
4g.47936726C>ACA356823920CNGA1,NIPAL1c.1756G>T (p.Asp586Tyr)
c.1768G>T (p.Asp590Tyr)
c.1975G>T (p.Asp659Tyr)
n.478+22022C>A
n.563+22022C>A
c.1993G>T (p.Asp665Tyr)
4g.47936726C>GCA356823923CNGA1,NIPAL1c.1756G>C (p.Asp586His)
c.1768G>C (p.Asp590His)
c.1975G>C (p.Asp659His)
n.478+22022C>G
n.563+22022C>G
c.1993G>C (p.Asp665His)
4g.47936726C>TCA356823925CNGA1,NIPAL1c.1756G>A (p.Asp586Asn)
c.1768G>A (p.Asp590Asn)
c.1975G>A (p.Asp659Asn)
n.478+22022C>T
n.563+22022C>T
c.1993G>A (p.Asp665Asn)
4g.47936727T>ACA439403950CNGA1,NIPAL1c.1755A>T (p.Pro585=)
c.1767A>T (p.Pro589=)
c.1974A>T (p.Pro658=)
n.478+22023T>A
n.563+22023T>A
c.1992A>T (p.Pro664=)
4g.47936727T>CCA439403951CNGA1,NIPAL1c.1755A>G (p.Pro585=)
c.1767A>G (p.Pro589=)
c.1974A>G (p.Pro658=)
n.478+22023T>C
n.563+22023T>C
c.1992A>G (p.Pro664=)
 dbSNP gnomAD v3 gnomAD v4
4g.47936727T>GCA439403953CNGA1,NIPAL1c.1755A>C (p.Pro585=)
c.1767A>C (p.Pro589=)
c.1974A>C (p.Pro658=)
n.478+22023T>G
n.563+22023T>G
c.1992A>C (p.Pro664=)
4g.47936727T=CA1455551687CNGA1,NIPAL1c.1755A= (p.Pro585=)
c.1767A= (p.Pro589=)
c.1974A= (p.Pro658=)
n.478+22023T=
n.563+22023T=
c.1992A= (p.Pro664=)
4g.47936728G>ACA2911021CNGA1,NIPAL1c.1754C>T (p.Pro585Leu)
c.1766C>T (p.Pro589Leu)
c.1973C>T (p.Pro658Leu)
n.478+22024G>A
n.563+22024G>A
c.1991C>T (p.Pro664Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936728G>CCA356823932CNGA1,NIPAL1c.1754C>G (p.Pro585Arg)
c.1766C>G (p.Pro589Arg)
c.1973C>G (p.Pro658Arg)
n.478+22024G>C
n.563+22024G>C
c.1991C>G (p.Pro664Arg)
4g.47936728G=CA1455551688CNGA1,NIPAL1c.1754C= (p.Pro585=)
c.1766C= (p.Pro589=)
c.1973C= (p.Pro658=)
n.478+22024G=
n.563+22024G=
c.1991C= (p.Pro664=)
4g.47936728G>TCA356823934CNGA1,NIPAL1c.1754C>A (p.Pro585Gln)
c.1766C>A (p.Pro589Gln)
c.1973C>A (p.Pro658Gln)
n.478+22024G>T
n.563+22024G>T
c.1991C>A (p.Pro664Gln)
4g.47936729G>ACA2911022CNGA1,NIPAL1c.1753C>T (p.Pro585Ser)
c.1765C>T (p.Pro589Ser)
c.1972C>T (p.Pro658Ser)
n.478+22025G>A
n.563+22025G>A
c.1990C>T (p.Pro664Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936729G>CCA356823943CNGA1,NIPAL1c.1753C>G (p.Pro585Ala)
c.1765C>G (p.Pro589Ala)
c.1972C>G (p.Pro658Ala)
n.478+22025G>C
n.563+22025G>C
c.1990C>G (p.Pro664Ala)
4g.47936729G=CA1455551689CNGA1,NIPAL1c.1753C= (p.Pro585=)
c.1765C= (p.Pro589=)
c.1972C= (p.Pro658=)
n.478+22025G=
n.563+22025G=
c.1990C= (p.Pro664=)
4g.47936729G>TCA356823940CNGA1,NIPAL1c.1753C>A (p.Pro585Thr)
c.1765C>A (p.Pro589Thr)
c.1972C>A (p.Pro658Thr)
n.478+22025G>T
n.563+22025G>T
c.1990C>A (p.Pro664Thr)
4g.47936730G>ACA439403954CNGA1,NIPAL1c.1752C>T (p.Tyr584=)
c.1764C>T (p.Tyr588=)
c.1971C>T (p.Tyr657=)
n.478+22026G>A
n.563+22026G>A
c.1989C>T (p.Tyr663=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47936730G>CCA356823947CNGA1,NIPAL1c.1752C>G (p.Tyr584Ter)
c.1764C>G (p.Tyr588Ter)
c.1971C>G (p.Tyr657Ter)
n.478+22026G>C
n.563+22026G>C
c.1989C>G (p.Tyr663Ter)
4g.47936730G=CA1455551690CNGA1,NIPAL1c.1752C= (p.Tyr584=)
c.1764C= (p.Tyr588=)
c.1971C= (p.Tyr657=)
n.478+22026G=
n.563+22026G=
c.1989C= (p.Tyr663=)
4g.47936730G>TCA356823948CNGA1,NIPAL1c.1752C>A (p.Tyr584Ter)
c.1764C>A (p.Tyr588Ter)
c.1971C>A (p.Tyr657Ter)
n.478+22026G>T
n.563+22026G>T
c.1989C>A (p.Tyr663Ter)
 ClinVar

Number of alleles fetched