Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
4g.47936731T>ACA356823953CNGA1,NIPAL1c.1751A>T (p.Tyr584Phe)
c.1763A>T (p.Tyr588Phe)
c.1970A>T (p.Tyr657Phe)
n.478+22027T>A
n.563+22027T>A
c.1988A>T (p.Tyr663Phe)
4g.47936731T>CCA356823955CNGA1,NIPAL1c.1751A>G (p.Tyr584Cys)
c.1763A>G (p.Tyr588Cys)
c.1970A>G (p.Tyr657Cys)
n.478+22027T>C
n.563+22027T>C
c.1988A>G (p.Tyr663Cys)
 gnomAD v4
4g.47936731T>GCA356823958CNGA1,NIPAL1c.1751A>C (p.Tyr584Ser)
c.1763A>C (p.Tyr588Ser)
c.1970A>C (p.Tyr657Ser)
n.478+22027T>G
n.563+22027T>G
c.1988A>C (p.Tyr663Ser)
4g.47936732A>CCA356823966CNGA1,NIPAL1c.1750T>G (p.Tyr584Asp)
c.1762T>G (p.Tyr588Asp)
c.1969T>G (p.Tyr657Asp)
n.478+22028A>C
n.563+22028A>C
c.1987T>G (p.Tyr663Asp)
4g.47936732A>GCA356823968CNGA1,NIPAL1c.1750T>C (p.Tyr584His)
c.1762T>C (p.Tyr588His)
c.1969T>C (p.Tyr657His)
n.478+22028A>G
n.563+22028A>G
c.1987T>C (p.Tyr663His)
4g.47936732A>TCA356823963CNGA1,NIPAL1c.1750T>A (p.Tyr584Asn)
c.1762T>A (p.Tyr588Asn)
c.1969T>A (p.Tyr657Asn)
n.478+22028A>T
n.563+22028A>T
c.1987T>A (p.Tyr663Asn)
 gnomAD v4
4g.47936733C>ACA356823975CNGA1,NIPAL1c.1749G>T (p.Glu583Asp)
c.1761G>T (p.Glu587Asp)
c.1968G>T (p.Glu656Asp)
n.478+22029C>A
n.563+22029C>A
c.1986G>T (p.Glu662Asp)
 COSMIC
4g.47936733C>GCA356823973CNGA1,NIPAL1c.1749G>C (p.Glu583Asp)
c.1761G>C (p.Glu587Asp)
c.1968G>C (p.Glu656Asp)
n.478+22029C>G
n.563+22029C>G
c.1986G>C (p.Glu662Asp)
4g.47936733C>TCA439403956CNGA1,NIPAL1c.1749G>A (p.Glu583=)
c.1761G>A (p.Glu587=)
c.1968G>A (p.Glu656=)
n.478+22029C>T
n.563+22029C>T
c.1986G>A (p.Glu662=)
4g.47936734T>ACA356823985CNGA1,NIPAL1c.1748A>T (p.Glu583Val)
c.1760A>T (p.Glu587Val)
c.1967A>T (p.Glu656Val)
n.478+22030T>A
n.563+22030T>A
c.1985A>T (p.Glu662Val)
4g.47936734T>CCA356823981CNGA1,NIPAL1c.1748A>G (p.Glu583Gly)
c.1760A>G (p.Glu587Gly)
c.1967A>G (p.Glu656Gly)
n.478+22030T>C
n.563+22030T>C
c.1985A>G (p.Glu662Gly)
4g.47936734T>GCA356823982CNGA1,NIPAL1c.1748A>C (p.Glu583Ala)
c.1760A>C (p.Glu587Ala)
c.1967A>C (p.Glu656Ala)
n.478+22030T>G
n.563+22030T>G
c.1985A>C (p.Glu662Ala)
4g.47936735C>ACA356823990CNGA1,NIPAL1c.1747G>T (p.Glu583Ter)
c.1759G>T (p.Glu587Ter)
c.1966G>T (p.Glu656Ter)
n.478+22031C>A
n.563+22031C>A
c.1984G>T (p.Glu662Ter)
4g.47936735C>GCA356823992CNGA1,NIPAL1c.1747G>C (p.Glu583Gln)
c.1759G>C (p.Glu587Gln)
c.1966G>C (p.Glu656Gln)
n.478+22031C>G
n.563+22031C>G
c.1984G>C (p.Glu662Gln)
4g.47936735C>TCA356823994CNGA1,NIPAL1c.1747G>A (p.Glu583Lys)
c.1759G>A (p.Glu587Lys)
c.1966G>A (p.Glu656Lys)
n.478+22031C>T
n.563+22031C>T
c.1984G>A (p.Glu662Lys)
4g.47936735_47936739delinsCAGTTCA1455551691CNGA1,NIPAL1c.1743_1747delinsAACTG (p.Leu581=)
c.1755_1759delinsAACTG (p.Leu585=)
c.1962_1966delinsAACTG (p.Leu654=)
n.478+22031_478+22035delinsCAGTT
n.563+22031_563+22035delinsCAGTT
c.1980_1984delinsAACTG (p.Leu660=)
4g.47936736A=CA1455551692CNGA1,NIPAL1c.1746T= (p.Thr582=)
c.1758T= (p.Thr586=)
c.1965T= (p.Thr655=)
n.478+22032A=
n.563+22032A=
c.1983T= (p.Thr661=)
4g.47936736A>CCA439403957CNGA1,NIPAL1c.1746T>G (p.Thr582=)
c.1758T>G (p.Thr586=)
c.1965T>G (p.Thr655=)
n.478+22032A>C
n.563+22032A>C
c.1983T>G (p.Thr661=)
 ClinVar
4g.47936736A>GCA439403959CNGA1,NIPAL1c.1746T>C (p.Thr582=)
c.1758T>C (p.Thr586=)
c.1965T>C (p.Thr655=)
n.478+22032A>G
n.563+22032A>G
c.1983T>C (p.Thr661=)
 dbSNP gnomAD v4
4g.47936736A>TCA439403961CNGA1,NIPAL1c.1746T>A (p.Thr582=)
c.1758T>A (p.Thr586=)
c.1965T>A (p.Thr655=)
n.478+22032A>T
n.563+22032A>T
c.1983T>A (p.Thr661=)
4g.47936738_47936741delCA2911023CNGA1,NIPAL1c.1743_1746del (p.Thr582SerfsTer17)
c.1755_1758del (p.Thr586SerfsTer17)
c.1962_1965del (p.Thr655SerfsTer17)
n.478+22034_478+22037del
n.563+22034_563+22037del
c.1980_1983del (p.Thr661SerfsTer17)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936737G>ACA356824000CNGA1,NIPAL1c.1745C>T (p.Thr582Ile)
c.1757C>T (p.Thr586Ile)
c.1964C>T (p.Thr655Ile)
n.478+22033G>A
n.563+22033G>A
c.1982C>T (p.Thr661Ile)
 gnomAD v4
4g.47936737G>CCA356824002CNGA1,NIPAL1c.1745C>G (p.Thr582Ser)
c.1757C>G (p.Thr586Ser)
c.1964C>G (p.Thr655Ser)
n.478+22033G>C
n.563+22033G>C
c.1982C>G (p.Thr661Ser)
4g.47936737G>TCA356824005CNGA1,NIPAL1c.1745C>A (p.Thr582Asn)
c.1757C>A (p.Thr586Asn)
c.1964C>A (p.Thr655Asn)
n.478+22033G>T
n.563+22033G>T
c.1982C>A (p.Thr661Asn)
4g.47936738T>ACA356824010CNGA1,NIPAL1c.1744A>T (p.Thr582Ser)
c.1756A>T (p.Thr586Ser)
c.1963A>T (p.Thr655Ser)
n.478+22034T>A
n.563+22034T>A
c.1981A>T (p.Thr661Ser)
 dbSNP
4g.47936738T>CCA356824012CNGA1,NIPAL1c.1744A>G (p.Thr582Ala)
c.1756A>G (p.Thr586Ala)
c.1963A>G (p.Thr655Ala)
n.478+22034T>C
n.563+22034T>C
c.1981A>G (p.Thr661Ala)
4g.47936738T>GCA356824015CNGA1,NIPAL1c.1744A>C (p.Thr582Pro)
c.1756A>C (p.Thr586Pro)
c.1963A>C (p.Thr655Pro)
n.478+22034T>G
n.563+22034T>G
c.1981A>C (p.Thr661Pro)
4g.47936739T>ACA439403963CNGA1,NIPAL1c.1743A>T (p.Leu581=)
c.1755A>T (p.Leu585=)
c.1962A>T (p.Leu654=)
n.478+22035T>A
n.563+22035T>A
c.1980A>T (p.Leu660=)
4g.47936739T>CCA439403964CNGA1,NIPAL1c.1743A>G (p.Leu581=)
c.1755A>G (p.Leu585=)
c.1962A>G (p.Leu654=)
n.478+22035T>C
n.563+22035T>C
c.1980A>G (p.Leu660=)
 gnomAD v4
4g.47936739T>GCA439403965CNGA1,NIPAL1c.1743A>C (p.Leu581=)
c.1755A>C (p.Leu585=)
c.1962A>C (p.Leu654=)
n.478+22035T>G
n.563+22035T>G
c.1980A>C (p.Leu660=)
4g.47936740A>CCA356824024CNGA1,NIPAL1c.1742T>G (p.Leu581Arg)
c.1754T>G (p.Leu585Arg)
c.1961T>G (p.Leu654Arg)
n.478+22036A>C
n.563+22036A>C
c.1979T>G (p.Leu660Arg)
4g.47936740A>GCA356824021CNGA1,NIPAL1c.1742T>C (p.Leu581Pro)
c.1754T>C (p.Leu585Pro)
c.1961T>C (p.Leu654Pro)
n.478+22036A>G
n.563+22036A>G
c.1979T>C (p.Leu660Pro)
 gnomAD v4
4g.47936740A>TCA356824019CNGA1,NIPAL1c.1742T>A (p.Leu581Gln)
c.1754T>A (p.Leu585Gln)
c.1961T>A (p.Leu654Gln)
n.478+22036A>T
n.563+22036A>T
c.1979T>A (p.Leu660Gln)
4g.47936741G>ACA439403966CNGA1,NIPAL1c.1741C>T (p.Leu581=)
c.1753C>T (p.Leu585=)
c.1960C>T (p.Leu654=)
n.478+22037G>A
n.563+22037G>A
c.1978C>T (p.Leu660=)
4g.47936741G>CCA356824028CNGA1,NIPAL1c.1741C>G (p.Leu581Val)
c.1753C>G (p.Leu585Val)
c.1960C>G (p.Leu654Val)
n.478+22037G>C
n.563+22037G>C
c.1978C>G (p.Leu660Val)
4g.47936741G>TCA356824032CNGA1,NIPAL1c.1741C>A (p.Leu581Ile)
c.1753C>A (p.Leu585Ile)
c.1960C>A (p.Leu654Ile)
n.478+22037G>T
n.563+22037G>T
c.1978C>A (p.Leu660Ile)
4g.47936742A>CCA439403969CNGA1,NIPAL1c.1740T>G (p.Ala580=)
c.1752T>G (p.Ala584=)
c.1959T>G (p.Ala653=)
n.478+22038A>C
n.563+22038A>C
c.1977T>G (p.Ala659=)
 gnomAD v4
4g.47936742A>GCA439403971CNGA1,NIPAL1c.1740T>C (p.Ala580=)
c.1752T>C (p.Ala584=)
c.1959T>C (p.Ala653=)
n.478+22038A>G
n.563+22038A>G
c.1977T>C (p.Ala659=)
4g.47936742A>TCA439403972CNGA1,NIPAL1c.1740T>A (p.Ala580=)
c.1752T>A (p.Ala584=)
c.1959T>A (p.Ala653=)
n.478+22038A>T
n.563+22038A>T
c.1977T>A (p.Ala659=)
4g.47936743G>ACA356824036CNGA1,NIPAL1c.1739C>T (p.Ala580Val)
c.1751C>T (p.Ala584Val)
c.1958C>T (p.Ala653Val)
n.478+22039G>A
n.563+22039G>A
c.1976C>T (p.Ala659Val)
 gnomAD v4
4g.47936743G>CCA356824039CNGA1,NIPAL1c.1739C>G (p.Ala580Gly)
c.1751C>G (p.Ala584Gly)
c.1958C>G (p.Ala653Gly)
n.478+22039G>C
n.563+22039G>C
c.1976C>G (p.Ala659Gly)
 gnomAD v4
4g.47936743G>TCA356824041CNGA1,NIPAL1c.1739C>A (p.Ala580Asp)
c.1751C>A (p.Ala584Asp)
c.1958C>A (p.Ala653Asp)
n.478+22039G>T
n.563+22039G>T
c.1976C>A (p.Ala659Asp)
4g.47936744C>ACA356824046CNGA1,NIPAL1c.1738G>T (p.Ala580Ser)
c.1750G>T (p.Ala584Ser)
c.1957G>T (p.Ala653Ser)
n.478+22040C>A
n.563+22040C>A
c.1975G>T (p.Ala659Ser)
4g.47936744C>GCA356824049CNGA1,NIPAL1c.1738G>C (p.Ala580Pro)
c.1750G>C (p.Ala584Pro)
c.1957G>C (p.Ala653Pro)
n.478+22040C>G
n.563+22040C>G
c.1975G>C (p.Ala659Pro)
4g.47936744C>TCA356824051CNGA1,NIPAL1c.1738G>A (p.Ala580Thr)
c.1750G>A (p.Ala584Thr)
c.1957G>A (p.Ala653Thr)
n.478+22040C>T
n.563+22040C>T
c.1975G>A (p.Ala659Thr)
4g.47936745T>ACA356824056CNGA1,NIPAL1c.1737A>T (p.Glu579Asp)
c.1749A>T (p.Glu583Asp)
c.1956A>T (p.Glu652Asp)
n.478+22041T>A
n.563+22041T>A
c.1974A>T (p.Glu658Asp)
4g.47936745T>CCA439403973CNGA1,NIPAL1c.1737A>G (p.Glu579=)
c.1749A>G (p.Glu583=)
c.1956A>G (p.Glu652=)
n.478+22041T>C
n.563+22041T>C
c.1974A>G (p.Glu658=)
4g.47936745T>GCA356824058CNGA1,NIPAL1c.1737A>C (p.Glu579Asp)
c.1749A>C (p.Glu583Asp)
c.1956A>C (p.Glu652Asp)
n.478+22041T>G
n.563+22041T>G
c.1974A>C (p.Glu658Asp)
4g.47936746T>ACA356824063CNGA1,NIPAL1c.1736A>T (p.Glu579Val)
c.1748A>T (p.Glu583Val)
c.1955A>T (p.Glu652Val)
n.478+22042T>A
n.563+22042T>A
c.1973A>T (p.Glu658Val)
4g.47936746T>CCA356824065CNGA1,NIPAL1c.1736A>G (p.Glu579Gly)
c.1748A>G (p.Glu583Gly)
c.1955A>G (p.Glu652Gly)
n.478+22042T>C
n.563+22042T>C
c.1973A>G (p.Glu658Gly)
4g.47936746T>GCA356824067CNGA1,NIPAL1c.1736A>C (p.Glu579Ala)
c.1748A>C (p.Glu583Ala)
c.1955A>C (p.Glu652Ala)
n.478+22042T>G
n.563+22042T>G
c.1973A>C (p.Glu658Ala)
4g.47936747C>ACA356824074CNGA1,NIPAL1c.1735G>T (p.Glu579Ter)
c.1747G>T (p.Glu583Ter)
c.1954G>T (p.Glu652Ter)
n.478+22043C>A
n.563+22043C>A
c.1972G>T (p.Glu658Ter)
4g.47936747C>GCA356824078CNGA1,NIPAL1c.1735G>C (p.Glu579Gln)
c.1747G>C (p.Glu583Gln)
c.1954G>C (p.Glu652Gln)
n.478+22043C>G
n.563+22043C>G
c.1972G>C (p.Glu658Gln)
4g.47936747C>TCA356824072CNGA1,NIPAL1c.1735G>A (p.Glu579Lys)
c.1747G>A (p.Glu583Lys)
c.1954G>A (p.Glu652Lys)
n.478+22043C>T
n.563+22043C>T
c.1972G>A (p.Glu658Lys)
4g.47936748C>ACA356824082CNGA1,NIPAL1c.1734G>T (p.Met578Ile)
c.1746G>T (p.Met582Ile)
c.1953G>T (p.Met651Ile)
n.478+22044C>A
n.563+22044C>A
c.1971G>T (p.Met657Ile)
4g.47936748C=CA1455551693CNGA1,NIPAL1c.1734G= (p.Met578=)
c.1746G= (p.Met582=)
c.1953G= (p.Met651=)
n.478+22044C=
n.563+22044C=
c.1971G= (p.Met657=)
4g.47936748C>GCA356824084CNGA1,NIPAL1c.1734G>C (p.Met578Ile)
c.1746G>C (p.Met582Ile)
c.1953G>C (p.Met651Ile)
n.478+22044C>G
n.563+22044C>G
c.1971G>C (p.Met657Ile)
 gnomAD v4
4g.47936748C>TCA356824087CNGA1,NIPAL1c.1734G>A (p.Met578Ile)
c.1746G>A (p.Met582Ile)
c.1953G>A (p.Met651Ile)
n.478+22044C>T
n.563+22044C>T
c.1971G>A (p.Met657Ile)
 dbSNP
4g.47936749A=CA1455551694CNGA1,NIPAL1c.1733T= (p.Met578=)
c.1745T= (p.Met582=)
c.1952T= (p.Met651=)
n.478+22045A=
n.563+22045A=
c.1970T= (p.Met657=)
4g.47936749A>CCA356824091CNGA1,NIPAL1c.1733T>G (p.Met578Arg)
c.1745T>G (p.Met582Arg)
c.1952T>G (p.Met651Arg)
n.478+22045A>C
n.563+22045A>C
c.1970T>G (p.Met657Arg)
4g.47936749A>GCA356824094CNGA1,NIPAL1c.1733T>C (p.Met578Thr)
c.1745T>C (p.Met582Thr)
c.1952T>C (p.Met651Thr)
n.478+22045A>G
n.563+22045A>G
c.1970T>C (p.Met657Thr)
 gnomAD v4
4g.47936749A>TCA2911024CNGA1,NIPAL1c.1733T>A (p.Met578Lys)
c.1745T>A (p.Met582Lys)
c.1952T>A (p.Met651Lys)
n.478+22045A>T
n.563+22045A>T
c.1970T>A (p.Met657Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936750T>ACA356824099CNGA1,NIPAL1c.1732A>T (p.Met578Leu)
c.1744A>T (p.Met582Leu)
c.1951A>T (p.Met651Leu)
n.478+22046T>A
n.563+22046T>A
c.1969A>T (p.Met657Leu)
4g.47936750T>CCA356824101CNGA1,NIPAL1c.1732A>G (p.Met578Val)
c.1744A>G (p.Met582Val)
c.1951A>G (p.Met651Val)
n.478+22046T>C
n.563+22046T>C
c.1969A>G (p.Met657Val)
 gnomAD v4
4g.47936750T>GCA356824104CNGA1,NIPAL1c.1732A>C (p.Met578Leu)
c.1744A>C (p.Met582Leu)
c.1951A>C (p.Met651Leu)
n.478+22046T>G
n.563+22046T>G
c.1969A>C (p.Met657Leu)
4g.47936751G>ACA2911025CNGA1,NIPAL1c.1731C>T (p.Leu577=)
c.1743C>T (p.Leu581=)
c.1950C>T (p.Leu650=)
n.478+22047G>A
n.563+22047G>A
c.1968C>T (p.Leu656=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936751G>CCA439403980CNGA1,NIPAL1c.1731C>G (p.Leu577=)
c.1743C>G (p.Leu581=)
c.1950C>G (p.Leu650=)
n.478+22047G>C
n.563+22047G>C
c.1968C>G (p.Leu656=)
 COSMIC
4g.47936751G=CA1455551695CNGA1,NIPAL1c.1731C= (p.Leu577=)
c.1743C= (p.Leu581=)
c.1950C= (p.Leu650=)
n.478+22047G=
n.563+22047G=
c.1968C= (p.Leu656=)
4g.47936751G>TCA439403978CNGA1,NIPAL1c.1731C>A (p.Leu577=)
c.1743C>A (p.Leu581=)
c.1950C>A (p.Leu650=)
n.478+22047G>T
n.563+22047G>T
c.1968C>A (p.Leu656=)
4g.47936752A>CCA356824110CNGA1,NIPAL1c.1730T>G (p.Leu577Arg)
c.1742T>G (p.Leu581Arg)
c.1949T>G (p.Leu650Arg)
n.478+22048A>C
n.563+22048A>C
c.1967T>G (p.Leu656Arg)
4g.47936752A>GCA356824112CNGA1,NIPAL1c.1730T>C (p.Leu577Pro)
c.1742T>C (p.Leu581Pro)
c.1949T>C (p.Leu650Pro)
n.478+22048A>G
n.563+22048A>G
c.1967T>C (p.Leu656Pro)
4g.47936752A>TCA356824115CNGA1,NIPAL1c.1730T>A (p.Leu577His)
c.1742T>A (p.Leu581His)
c.1949T>A (p.Leu650His)
n.478+22048A>T
n.563+22048A>T
c.1967T>A (p.Leu656His)
4g.47936753G>ACA356824118CNGA1,NIPAL1c.1729C>T (p.Leu577Phe)
c.1741C>T (p.Leu581Phe)
c.1948C>T (p.Leu650Phe)
n.478+22049G>A
n.563+22049G>A
c.1966C>T (p.Leu656Phe)
 dbSNP
4g.47936753G>CCA356824122CNGA1,NIPAL1c.1729C>G (p.Leu577Val)
c.1741C>G (p.Leu581Val)
c.1948C>G (p.Leu650Val)
n.478+22049G>C
n.563+22049G>C
c.1966C>G (p.Leu656Val)
4g.47936753G=CA1455551696CNGA1,NIPAL1c.1729C= (p.Leu577=)
c.1741C= (p.Leu581=)
c.1948C= (p.Leu650=)
n.478+22049G=
n.563+22049G=
c.1966C= (p.Leu656=)
4g.47936753G>TCA356824120CNGA1,NIPAL1c.1729C>A (p.Leu577Ile)
c.1741C>A (p.Leu581Ile)
c.1948C>A (p.Leu650Ile)
n.478+22049G>T
n.563+22049G>T
c.1966C>A (p.Leu656Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47936754G>ACA439403981CNGA1,NIPAL1c.1728C>T (p.Asp576=)
c.1740C>T (p.Asp580=)
c.1947C>T (p.Asp649=)
n.478+22050G>A
n.563+22050G>A
c.1965C>T (p.Asp655=)
4g.47936754G>CCA356824125CNGA1,NIPAL1c.1728C>G (p.Asp576Glu)
c.1740C>G (p.Asp580Glu)
c.1947C>G (p.Asp649Glu)
n.478+22050G>C
n.563+22050G>C
c.1965C>G (p.Asp655Glu)
4g.47936754G=CA1455551697CNGA1,NIPAL1c.1728C= (p.Asp576=)
c.1740C= (p.Asp580=)
c.1947C= (p.Asp649=)
n.478+22050G=
n.563+22050G=
c.1965C= (p.Asp655=)
4g.47936754G>TCA356824128CNGA1,NIPAL1c.1728C>A (p.Asp576Glu)
c.1740C>A (p.Asp580Glu)
c.1947C>A (p.Asp649Glu)
n.478+22050G>T
n.563+22050G>T
c.1965C>A (p.Asp655Glu)
 dbSNP
4g.47936755T>ACA356824131CNGA1,NIPAL1c.1727A>T (p.Asp576Val)
c.1739A>T (p.Asp580Val)
c.1946A>T (p.Asp649Val)
n.478+22051T>A
n.563+22051T>A
c.1964A>T (p.Asp655Val)
4g.47936755T>CCA356824134CNGA1,NIPAL1c.1727A>G (p.Asp576Gly)
c.1739A>G (p.Asp580Gly)
c.1946A>G (p.Asp649Gly)
n.478+22051T>C
n.563+22051T>C
c.1964A>G (p.Asp655Gly)
4g.47936755T>GCA356824136CNGA1,NIPAL1c.1727A>C (p.Asp576Ala)
c.1739A>C (p.Asp580Ala)
c.1946A>C (p.Asp649Ala)
n.478+22051T>G
n.563+22051T>G
c.1964A>C (p.Asp655Ala)
4g.47936756C>ACA356824139CNGA1,NIPAL1c.1726G>T (p.Asp576Tyr)
c.1738G>T (p.Asp580Tyr)
c.1945G>T (p.Asp649Tyr)
n.478+22052C>A
n.563+22052C>A
c.1963G>T (p.Asp655Tyr)
4g.47936756C>GCA356824142CNGA1,NIPAL1c.1726G>C (p.Asp576His)
c.1738G>C (p.Asp580His)
c.1945G>C (p.Asp649His)
n.478+22052C>G
n.563+22052C>G
c.1963G>C (p.Asp655His)
4g.47936756C>TCA356824144CNGA1,NIPAL1c.1726G>A (p.Asp576Asn)
c.1738G>A (p.Asp580Asn)
c.1945G>A (p.Asp649Asn)
n.478+22052C>T
n.563+22052C>T
c.1963G>A (p.Asp655Asn)
4g.47936757A>CCA356824148CNGA1,NIPAL1c.1725T>G (p.Asp575Glu)
c.1737T>G (p.Asp579Glu)
c.1944T>G (p.Asp648Glu)
n.478+22053A>C
n.563+22053A>C
c.1962T>G (p.Asp654Glu)
4g.47936757A>GCA439403982CNGA1,NIPAL1c.1725T>C (p.Asp575=)
c.1737T>C (p.Asp579=)
c.1944T>C (p.Asp648=)
n.478+22053A>G
n.563+22053A>G
c.1962T>C (p.Asp654=)
4g.47936757A>TCA356824151CNGA1,NIPAL1c.1725T>A (p.Asp575Glu)
c.1737T>A (p.Asp579Glu)
c.1944T>A (p.Asp648Glu)
n.478+22053A>T
n.563+22053A>T
c.1962T>A (p.Asp654Glu)
4g.47936758T>ACA356824157CNGA1,NIPAL1c.1724A>T (p.Asp575Val)
c.1736A>T (p.Asp579Val)
c.1943A>T (p.Asp648Val)
n.478+22054T>A
n.563+22054T>A
c.1961A>T (p.Asp654Val)
4g.47936758T>CCA356824160CNGA1,NIPAL1c.1724A>G (p.Asp575Gly)
c.1736A>G (p.Asp579Gly)
c.1943A>G (p.Asp648Gly)
n.478+22054T>C
n.563+22054T>C
c.1961A>G (p.Asp654Gly)
4g.47936758T>GCA356824155CNGA1,NIPAL1c.1724A>C (p.Asp575Ala)
c.1736A>C (p.Asp579Ala)
c.1943A>C (p.Asp648Ala)
n.478+22054T>G
n.563+22054T>G
c.1961A>C (p.Asp654Ala)
4g.47936759C>ACA356824171CNGA1,NIPAL1c.1723G>T (p.Asp575Tyr)
c.1735G>T (p.Asp579Tyr)
c.1942G>T (p.Asp648Tyr)
n.478+22055C>A
n.563+22055C>A
c.1960G>T (p.Asp654Tyr)
4g.47936759C=CA1455551699CNGA1,NIPAL1c.1723G= (p.Asp575=)
c.1735G= (p.Asp579=)
c.1942G= (p.Asp648=)
n.478+22055C=
n.563+22055C=
c.1960G= (p.Asp654=)
4g.47936759C>GCA356824164CNGA1,NIPAL1c.1723G>C (p.Asp575His)
c.1735G>C (p.Asp579His)
c.1942G>C (p.Asp648His)
n.478+22055C>G
n.563+22055C>G
c.1960G>C (p.Asp654His)
4g.47936759C>TCA356824167CNGA1,NIPAL1c.1723G>A (p.Asp575Asn)
c.1735G>A (p.Asp579Asn)
c.1942G>A (p.Asp648Asn)
n.478+22055C>T
n.563+22055C>T
c.1960G>A (p.Asp654Asn)
 dbSNP
4g.47936759_47936760delinsCTCA1455551698CNGA1,NIPAL1c.1722_1723delinsAG (p.Lys574=)
c.1734_1735delinsAG (p.Lys578=)
c.1941_1942delinsAG (p.Lys647=)
n.478+22055_478+22056delinsCT
n.563+22055_563+22056delinsCT
c.1959_1960delinsAG (p.Lys653=)
4g.47936760T>ACA356824174CNGA1,NIPAL1c.1722A>T (p.Lys574Asn)
c.1734A>T (p.Lys578Asn)
c.1941A>T (p.Lys647Asn)
n.478+22056T>A
n.563+22056T>A
c.1959A>T (p.Lys653Asn)
4g.47936760T>CCA439403983CNGA1,NIPAL1c.1722A>G (p.Lys574=)
c.1734A>G (p.Lys578=)
c.1941A>G (p.Lys647=)
n.478+22056T>C
n.563+22056T>C
c.1959A>G (p.Lys653=)
4g.47936760T>GCA356824176CNGA1,NIPAL1c.1722A>C (p.Lys574Asn)
c.1734A>C (p.Lys578Asn)
c.1941A>C (p.Lys647Asn)
n.478+22056T>G
n.563+22056T>G
c.1959A>C (p.Lys653Asn)
4g.47936763delCA551650444CNGA1,NIPAL1c.1722del (p.Asp575MetfsTer7)
c.1734del (p.Asp579MetfsTer7)
c.1941del (p.Asp648MetfsTer7)
n.478+22059del
n.563+22059del
c.1959del (p.Asp654MetfsTer7)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936761T>ACA356824180CNGA1,NIPAL1c.1721A>T (p.Lys574Ile)
c.1733A>T (p.Lys578Ile)
c.1940A>T (p.Lys647Ile)
n.478+22057T>A
n.563+22057T>A
c.1958A>T (p.Lys653Ile)
4g.47936761T>CCA356824183CNGA1,NIPAL1c.1721A>G (p.Lys574Arg)
c.1733A>G (p.Lys578Arg)
c.1940A>G (p.Lys647Arg)
n.478+22057T>C
n.563+22057T>C
c.1958A>G (p.Lys653Arg)
4g.47936761T>GCA356824185CNGA1,NIPAL1c.1721A>C (p.Lys574Thr)
c.1733A>C (p.Lys578Thr)
c.1940A>C (p.Lys647Thr)
n.478+22057T>G
n.563+22057T>G
c.1958A>C (p.Lys653Thr)
4g.47936762T>ACA356824190CNGA1,NIPAL1c.1720A>T (p.Lys574Ter)
c.1732A>T (p.Lys578Ter)
c.1939A>T (p.Lys647Ter)
n.478+22058T>A
n.563+22058T>A
c.1957A>T (p.Lys653Ter)
4g.47936762T>CCA356824192CNGA1,NIPAL1c.1720A>G (p.Lys574Glu)
c.1732A>G (p.Lys578Glu)
c.1939A>G (p.Lys647Glu)
n.478+22058T>C
n.563+22058T>C
c.1957A>G (p.Lys653Glu)
4g.47936762T>GCA356824193CNGA1,NIPAL1c.1720A>C (p.Lys574Gln)
c.1732A>C (p.Lys578Gln)
c.1939A>C (p.Lys647Gln)
n.478+22058T>G
n.563+22058T>G
c.1957A>C (p.Lys653Gln)
4g.47936763T>ACA439403985CNGA1,NIPAL1c.1719A>T (p.Ser573=)
c.1731A>T (p.Ser577=)
c.1938A>T (p.Ser646=)
n.478+22059T>A
n.563+22059T>A
c.1956A>T (p.Ser652=)
4g.47936763T>CCA439403986CNGA1,NIPAL1c.1719A>G (p.Ser573=)
c.1731A>G (p.Ser577=)
c.1938A>G (p.Ser646=)
n.478+22059T>C
n.563+22059T>C
c.1956A>G (p.Ser652=)
4g.47936763T>GCA439403987CNGA1,NIPAL1c.1719A>C (p.Ser573=)
c.1731A>C (p.Ser577=)
c.1938A>C (p.Ser646=)
n.478+22059T>G
n.563+22059T>G
c.1956A>C (p.Ser652=)
4g.47936764G>ACA356824198CNGA1,NIPAL1c.1718C>T (p.Ser573Leu)
c.1730C>T (p.Ser577Leu)
c.1937C>T (p.Ser646Leu)
n.478+22060G>A
n.563+22060G>A
c.1955C>T (p.Ser652Leu)
4g.47936764G>CCA356824201CNGA1,NIPAL1c.1718C>G (p.Ser573Ter)
c.1730C>G (p.Ser577Ter)
c.1937C>G (p.Ser646Ter)
n.478+22060G>C
n.563+22060G>C
c.1955C>G (p.Ser652Ter)
 COSMIC COSMIC
4g.47936764G>TCA356824204CNGA1,NIPAL1c.1718C>A (p.Ser573Ter)
c.1730C>A (p.Ser577Ter)
c.1937C>A (p.Ser646Ter)
n.478+22060G>T
n.563+22060G>T
c.1955C>A (p.Ser652Ter)
4g.47936765A>CCA356824208CNGA1,NIPAL1c.1717T>G (p.Ser573Ala)
c.1729T>G (p.Ser577Ala)
c.1936T>G (p.Ser646Ala)
n.478+22061A>C
n.563+22061A>C
c.1954T>G (p.Ser652Ala)
4g.47936765A>GCA356824214CNGA1,NIPAL1c.1717T>C (p.Ser573Pro)
c.1729T>C (p.Ser577Pro)
c.1936T>C (p.Ser646Pro)
n.478+22061A>G
n.563+22061A>G
c.1954T>C (p.Ser652Pro)
4g.47936765A>TCA356824211CNGA1,NIPAL1c.1717T>A (p.Ser573Thr)
c.1729T>A (p.Ser577Thr)
c.1936T>A (p.Ser646Thr)
n.478+22061A>T
n.563+22061A>T
c.1954T>A (p.Ser652Thr)
4g.47936766G>ACA439403989CNGA1,NIPAL1c.1716C>T (p.Leu572=)
c.1728C>T (p.Leu576=)
c.1935C>T (p.Leu645=)
n.478+22062G>A
n.563+22062G>A
c.1953C>T (p.Leu651=)
 gnomAD v4
4g.47936766G>CCA439403990CNGA1,NIPAL1c.1716C>G (p.Leu572=)
c.1728C>G (p.Leu576=)
c.1935C>G (p.Leu645=)
n.478+22062G>C
n.563+22062G>C
c.1953C>G (p.Leu651=)
4g.47936766G>TCA439403992CNGA1,NIPAL1c.1716C>A (p.Leu572=)
c.1728C>A (p.Leu576=)
c.1935C>A (p.Leu645=)
n.478+22062G>T
n.563+22062G>T
c.1953C>A (p.Leu651=)
4g.47936767A>CCA356824218CNGA1,NIPAL1c.1715T>G (p.Leu572Arg)
c.1727T>G (p.Leu576Arg)
c.1934T>G (p.Leu645Arg)
n.478+22063A>C
n.563+22063A>C
c.1952T>G (p.Leu651Arg)
4g.47936767A>GCA356824221CNGA1,NIPAL1c.1715T>C (p.Leu572Pro)
c.1727T>C (p.Leu576Pro)
c.1934T>C (p.Leu645Pro)
n.478+22063A>G
n.563+22063A>G
c.1952T>C (p.Leu651Pro)
4g.47936767A>TCA356824223CNGA1,NIPAL1c.1715T>A (p.Leu572His)
c.1727T>A (p.Leu576His)
c.1934T>A (p.Leu645His)
n.478+22063A>T
n.563+22063A>T
c.1952T>A (p.Leu651His)
4g.47936768G>ACA356824225CNGA1,NIPAL1c.1714C>T (p.Leu572Phe)
c.1726C>T (p.Leu576Phe)
c.1933C>T (p.Leu645Phe)
n.478+22064G>A
n.563+22064G>A
c.1951C>T (p.Leu651Phe)
4g.47936768G>CCA356824227CNGA1,NIPAL1c.1714C>G (p.Leu572Val)
c.1726C>G (p.Leu576Val)
c.1933C>G (p.Leu645Val)
n.478+22064G>C
n.563+22064G>C
c.1951C>G (p.Leu651Val)
4g.47936768G>TCA356824231CNGA1,NIPAL1c.1714C>A (p.Leu572Ile)
c.1726C>A (p.Leu576Ile)
c.1933C>A (p.Leu645Ile)
n.478+22064G>T
n.563+22064G>T
c.1951C>A (p.Leu651Ile)
4g.47936769A>CCA356824235CNGA1,NIPAL1c.1713T>G (p.Cys571Trp)
c.1725T>G (p.Cys575Trp)
c.1932T>G (p.Cys644Trp)
n.478+22065A>C
n.563+22065A>C
c.1950T>G (p.Cys650Trp)
4g.47936769A>GCA439403993CNGA1,NIPAL1c.1713T>C (p.Cys571=)
c.1725T>C (p.Cys575=)
c.1932T>C (p.Cys644=)
n.478+22065A>G
n.563+22065A>G
c.1950T>C (p.Cys650=)
 gnomAD v4
4g.47936769A>TCA356824237CNGA1,NIPAL1c.1713T>A (p.Cys571Ter)
c.1725T>A (p.Cys575Ter)
c.1932T>A (p.Cys644Ter)
n.478+22065A>T
n.563+22065A>T
c.1950T>A (p.Cys650Ter)
4g.47936770C>ACA356824241CNGA1,NIPAL1c.1712G>T (p.Cys571Phe)
c.1724G>T (p.Cys575Phe)
c.1931G>T (p.Cys644Phe)
n.478+22066C>A
n.563+22066C>A
c.1949G>T (p.Cys650Phe)
4g.47936770C=CA1455551700CNGA1,NIPAL1c.1712G= (p.Cys571=)
c.1724G= (p.Cys575=)
c.1931G= (p.Cys644=)
n.478+22066C=
n.563+22066C=
c.1949G= (p.Cys650=)
4g.47936770C>GCA356824244CNGA1,NIPAL1c.1712G>C (p.Cys571Ser)
c.1724G>C (p.Cys575Ser)
c.1931G>C (p.Cys644Ser)
n.478+22066C>G
n.563+22066C>G
c.1949G>C (p.Cys650Ser)
4g.47936770C>TCA10621162CNGA1,NIPAL1c.1712G>A (p.Cys571Tyr)
c.1724G>A (p.Cys575Tyr)
c.1931G>A (p.Cys644Tyr)
n.478+22066C>T
n.563+22066C>T
c.1949G>A (p.Cys650Tyr)
 ClinVar dbSNP
4g.47936771A>CCA356824252CNGA1,NIPAL1c.1711T>G (p.Cys571Gly)
c.1723T>G (p.Cys575Gly)
c.1930T>G (p.Cys644Gly)
n.478+22067A>C
n.563+22067A>C
c.1948T>G (p.Cys650Gly)
4g.47936771A>GCA356824257CNGA1,NIPAL1c.1711T>C (p.Cys571Arg)
c.1723T>C (p.Cys575Arg)
c.1930T>C (p.Cys644Arg)
n.478+22067A>G
n.563+22067A>G
c.1948T>C (p.Cys650Arg)
4g.47936771A>TCA356824250CNGA1,NIPAL1c.1711T>A (p.Cys571Ser)
c.1723T>A (p.Cys575Ser)
c.1930T>A (p.Cys644Ser)
n.478+22067A>T
n.563+22067A>T
c.1948T>A (p.Cys650Ser)
4g.47936772G>ACA439403995CNGA1,NIPAL1c.1710C>T (p.Phe570=)
c.1722C>T (p.Phe574=)
c.1929C>T (p.Phe643=)
n.478+22068G>A
n.563+22068G>A
c.1947C>T (p.Phe649=)
4g.47936772G>CCA356824261CNGA1,NIPAL1c.1710C>G (p.Phe570Leu)
c.1722C>G (p.Phe574Leu)
c.1929C>G (p.Phe643Leu)
n.478+22068G>C
n.563+22068G>C
c.1947C>G (p.Phe649Leu)
4g.47936772G>TCA356824264CNGA1,NIPAL1c.1710C>A (p.Phe570Leu)
c.1722C>A (p.Phe574Leu)
c.1929C>A (p.Phe643Leu)
n.478+22068G>T
n.563+22068G>T
c.1947C>A (p.Phe649Leu)
 gnomAD v4
4g.47936773A>CCA356824268CNGA1,NIPAL1c.1709T>G (p.Phe570Cys)
c.1721T>G (p.Phe574Cys)
c.1928T>G (p.Phe643Cys)
n.478+22069A>C
n.563+22069A>C
c.1946T>G (p.Phe649Cys)
4g.47936773A>GCA356824269CNGA1,NIPAL1c.1709T>C (p.Phe570Ser)
c.1721T>C (p.Phe574Ser)
c.1928T>C (p.Phe643Ser)
n.478+22069A>G
n.563+22069A>G
c.1946T>C (p.Phe649Ser)
4g.47936773A>TCA356824271CNGA1,NIPAL1c.1709T>A (p.Phe570Tyr)
c.1721T>A (p.Phe574Tyr)
c.1928T>A (p.Phe643Tyr)
n.478+22069A>T
n.563+22069A>T
c.1946T>A (p.Phe649Tyr)
4g.47936774A=CA1455551701CNGA1,NIPAL1c.1708T= (p.Phe570=)
c.1720T= (p.Phe574=)
c.1927T= (p.Phe643=)
n.478+22070A=
n.563+22070A=
c.1945T= (p.Phe649=)
4g.47936774A>CCA356824276CNGA1,NIPAL1c.1708T>G (p.Phe570Val)
c.1720T>G (p.Phe574Val)
c.1927T>G (p.Phe643Val)
n.478+22070A>C
n.563+22070A>C
c.1945T>G (p.Phe649Val)
4g.47936774A>GCA356824279CNGA1,NIPAL1c.1708T>C (p.Phe570Leu)
c.1720T>C (p.Phe574Leu)
c.1927T>C (p.Phe643Leu)
n.478+22070A>G
n.563+22070A>G
c.1945T>C (p.Phe649Leu)
 dbSNP gnomAD v3 gnomAD v4
4g.47936774A>TCA356824282CNGA1,NIPAL1c.1708T>A (p.Phe570Ile)
c.1720T>A (p.Phe574Ile)
c.1927T>A (p.Phe643Ile)
n.478+22070A>T
n.563+22070A>T
c.1945T>A (p.Phe649Ile)

Number of alleles fetched