Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.47936676A= | CA1455551668 | CNGA1,NIPAL1 | c.1806T= (p.Asp602=) c.1818T= (p.Asp606=) c.2025T= (p.Asp675=) n.478+21972A= n.563+21972A= c.2043T= (p.Asp681=) | |
4 | g.47936676A>C | CA356823656 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936676A>G | CA439403902 | CNGA1,NIPAL1 | c.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 |
4 | g.47936676A>T | CA356823658 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936677T>A | CA356823665 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936677T>C | CA96688043 | CNGA1,NIPAL1 | c.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 |
4 | g.47936677T>G | CA356823663 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936677T= | CA1455551669 | CNGA1,NIPAL1 | c.1805A= (p.Asp602=) c.1817A= (p.Asp606=) c.2024A= (p.Asp675=) n.478+21973T= n.563+21973T= c.2042A= (p.Asp681=) | |
4 | g.47936678C>A | CA356823668 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936678C>G | CA356823670 | CNGA1,NIPAL1 | c.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 |
4 | g.47936678C>T | CA356823671 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936679T>A | CA356823674 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936679T>C | CA2911010 | CNGA1,NIPAL1 | c.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 |
4 | g.47936679T>G | CA356823677 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936679T= | CA1455551670 | CNGA1,NIPAL1 | c.1803A= (p.Lys601=) c.1815A= (p.Lys605=) c.2022A= (p.Lys674=) n.478+21975T= n.563+21975T= c.2040A= (p.Lys680=) | |
4 | g.47936680T>A | CA356823681 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936680T>C | CA356823683 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936680T>G | CA356823684 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936681T>A | CA356823687 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936681T>C | CA356823689 | CNGA1,NIPAL1 | c.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 |
4 | g.47936681T>G | CA2911011 | CNGA1,NIPAL1 | c.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 |
4 | g.47936681T= | CA1455551671 | CNGA1,NIPAL1 | c.1801A= (p.Lys601=) c.1813A= (p.Lys605=) c.2020A= (p.Lys674=) n.478+21977T= n.563+21977T= c.2038A= (p.Lys680=) | |
4 | g.47936682C>A | CA356823693 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936682C>G | CA356823697 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936682C>T | CA356823695 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936683A>C | CA356823699 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936683A>G | CA356823702 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936683A>T | CA356823704 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936684T>A | CA356823705 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936684T>C | CA356823706 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936684T>G | CA356823707 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936685T>A | CA356823709 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936685T>C | CA439403913 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936685T>G | CA356823708 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936686A>C | CA356823710 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936686A>G | CA356823711 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936686A>T | CA356823712 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936687A>C | CA356823713 | CNGA1,NIPAL1 | c.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 |
4 | g.47936687A>G | CA439403914 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936687A>T | CA356823714 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936688A= | CA1455551672 | CNGA1,NIPAL1 | c.1794T= (p.Ile598=) c.1806T= (p.Ile602=) c.2013T= (p.Ile671=) n.478+21984A= n.563+21984A= c.2031T= (p.Ile677=) | |
4 | g.47936688A>C | CA356823715 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936688A>G | CA439403916 | CNGA1,NIPAL1 | c.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 |
4 | g.47936688A>T | CA439403915 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936689A>C | CA356823718 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936689A>G | CA356823716 | CNGA1,NIPAL1 | c.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 |
4 | g.47936689A>T | CA356823717 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936690T>A | CA356823719 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936690T>C | CA356823720 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936690T>G | CA356823721 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936691C>A | CA356823722 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936691C>G | CA356823723 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936691C>T | CA439403920 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936692T>A | CA356823724 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936692T>C | CA356823725 | CNGA1,NIPAL1 | c.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 |
4 | g.47936692T>G | CA356823726 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936693G>A | CA356823727 | CNGA1,NIPAL1 | c.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 |
4 | g.47936693G>C | CA356823728 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936693G>T | CA356823729 | CNGA1,NIPAL1 | c.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 |
4 | g.47936694C>A | CA356823730 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936694C>G | CA356823731 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936694C>T | CA439403923 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936695T>A | CA356823733 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936695T>C | CA2911012 | CNGA1,NIPAL1 | c.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 |
4 | g.47936695T>G | CA356823732 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936695T= | CA1455551673 | CNGA1,NIPAL1 | c.1787A= (p.Lys596=) c.1799A= (p.Lys600=) c.2006A= (p.Lys669=) n.478+21991T= n.563+21991T= c.2024A= (p.Lys675=) | |
4 | g.47936696T>A | CA356823734 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936696T>C | CA356823735 | CNGA1,NIPAL1 | c.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 |
4 | g.47936696T>G | CA356823736 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936697C>A | CA439403926 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936697C= | CA1455551674 | CNGA1,NIPAL1 | c.1785G= (p.Gly595=) c.1797G= (p.Gly599=) c.2004G= (p.Gly668=) n.478+21993C= n.563+21993C= c.2022G= (p.Gly674=) | |
4 | g.47936697C>G | CA439403927 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936697C>T | CA439403929 | CNGA1,NIPAL1 | c.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 |
4 | g.47936698C>A | CA356823737 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936698C>G | CA356823738 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936698C>T | CA356823739 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936698_47936699delinsAT | CA645531848 | CNGA1,NIPAL1 | c.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 |
4 | g.47936699C>A | CA356823740 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936699C>G | CA356823741 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936699C>T | CA356823742 | CNGA1,NIPAL1 | c.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 |
4 | g.47936700T>A | CA356823743 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936700T>C | CA2911013 | CNGA1,NIPAL1 | c.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 |
4 | g.47936700T>G | CA356823744 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936700T= | CA1455551675 | CNGA1,NIPAL1 | c.1782A= (p.Lys594=) c.1794A= (p.Lys598=) c.2001A= (p.Lys667=) n.478+21996T= n.563+21996T= c.2019A= (p.Lys673=) | |
4 | g.47936701T>A | CA356823749 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936701T>C | CA356823747 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936701T>G | CA2911014 | CNGA1,NIPAL1 | c.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 |
4 | g.47936701T= | CA1455551676 | CNGA1,NIPAL1 | c.1781A= (p.Lys594=) c.1793A= (p.Lys598=) c.2000A= (p.Lys667=) n.478+21997T= n.563+21997T= c.2018A= (p.Lys673=) | |
4 | g.47936702T>A | CA356823751 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936702T>C | CA356823753 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936702T>G | CA356823755 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936703C>A | CA356823757 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936703C= | CA1455551677 | CNGA1,NIPAL1 | c.1779G= (p.Glu593=) c.1791G= (p.Glu597=) c.1998G= (p.Glu666=) n.478+21999C= n.563+21999C= c.2016G= (p.Glu672=) | |
4 | g.47936703C>G | CA356823758 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936703C>T | CA439403933 | CNGA1,NIPAL1 | c.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 |
4 | g.47936704T>A | CA356823760 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936704T>C | CA356823762 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936704T>G | CA356823764 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936705C>A | CA356823766 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936705C>G | CA356823768 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936705C>T | CA356823770 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936706T>A | CA356823773 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936706T>C | CA439403935 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936706T>G | CA356823775 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936707T>A | CA356823781 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936707T>C | CA356823784 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936707T>G | CA356823778 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936708C>A | CA356823787 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936708C>G | CA356823793 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936708C>T | CA356823791 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936709C>A | CA439403937 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936709C= | CA1455551678 | CNGA1,NIPAL1 | c.1773G= (p.Leu591=) c.1785G= (p.Leu595=) c.1992G= (p.Leu664=) n.478+22005C= n.563+22005C= c.2010G= (p.Leu670=) | |
4 | g.47936709C>G | CA439403940 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936709C>T | CA96688072 | CNGA1,NIPAL1 | c.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 |
4 | g.47936710A>C | CA356823799 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936710A>G | CA356823802 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936710A>T | CA356823805 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936711G>A | CA439403941 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936711G>C | CA356823808 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936711G>T | CA356823810 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936712C>A | CA2911015 | CNGA1,NIPAL1 | c.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 |
4 | g.47936712C= | CA1455551679 | CNGA1,NIPAL1 | c.1770G= (p.Met590=) c.1782G= (p.Met594=) c.1989G= (p.Met663=) n.478+22008C= n.563+22008C= c.2007G= (p.Met669=) | |
4 | g.47936712C>G | CA356823817 | CNGA1,NIPAL1 | c.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 |
4 | g.47936712C>T | CA356823821 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936713A= | CA1455551680 | CNGA1,NIPAL1 | c.1769T= (p.Met590=) c.1781T= (p.Met594=) c.1988T= (p.Met663=) n.478+22009A= n.563+22009A= c.2006T= (p.Met669=) | |
4 | g.47936713A>C | CA2911017 | CNGA1,NIPAL1 | c.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 |
4 | g.47936713A>G | CA2911016 | CNGA1,NIPAL1 | c.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 |
4 | g.47936713A>T | CA356823828 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936714T>A | CA356823833 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936714T>C | CA2911018 | CNGA1,NIPAL1 | c.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 |
4 | g.47936714T>G | CA356823835 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936714T= | CA1455551681 | CNGA1,NIPAL1 | c.1768A= (p.Met590=) c.1780A= (p.Met594=) c.1987A= (p.Met663=) n.478+22010T= n.563+22010T= c.2005A= (p.Met669=) | |
4 | g.47936715A= | CA1455551682 | CNGA1,NIPAL1 | c.1767T= (p.Thr589=) c.1779T= (p.Thr593=) c.1986T= (p.Thr662=) n.478+22011A= n.563+22011A= c.2004T= (p.Thr668=) | |
4 | g.47936715A>C | CA439403942 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936715A>G | CA2911019 | CNGA1,NIPAL1 | c.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 |
4 | g.47936715A>T | CA439403943 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936716G>A | CA356823844 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936716G>C | CA356823845 | CNGA1,NIPAL1 | c.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 |
4 | g.47936716G= | CA1455551683 | CNGA1,NIPAL1 | c.1766C= (p.Thr589=) c.1778C= (p.Thr593=) c.1985C= (p.Thr662=) n.478+22012G= n.563+22012G= c.2003C= (p.Thr668=) | |
4 | g.47936716G>T | CA356823849 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936717T>A | CA356823853 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936717T>C | CA356823857 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936717T>G | CA356823859 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936718T>A | CA356823864 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936718T>C | CA439403944 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936718T>G | CA356823866 | CNGA1,NIPAL1 | c.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 |
4 | g.47936719T>A | CA356823874 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936719T>C | CA96688117 | CNGA1,NIPAL1 | c.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 |
4 | g.47936719T>G | CA2911020 | CNGA1,NIPAL1 | c.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 |
4 | g.47936719T= | CA1455551684 | CNGA1,NIPAL1 | c.1763A= (p.Lys588=) c.1775A= (p.Lys592=) c.1982A= (p.Lys661=) n.478+22015T= n.563+22015T= c.2000A= (p.Lys667=) | |
4 | g.47936720T>A | CA356823878 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936720T>C | CA356823881 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936720T>G | CA356823883 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936721G>A | CA439403945 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936721G>C | CA439403946 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936721G>T | CA439403947 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936722G>A | CA356823888 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936722G>C | CA356823891 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936722G>T | CA356823892 | CNGA1,NIPAL1 | c.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 |
4 | g.47936723C>A | CA356823896 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936723C= | CA1455551685 | CNGA1,NIPAL1 | c.1759G= (p.Ala587=) c.1771G= (p.Ala591=) c.1978G= (p.Ala660=) n.478+22019C= n.563+22019C= c.1996G= (p.Ala666=) | |
4 | g.47936723C>G | CA356823899 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936723C>T | CA356823901 | CNGA1,NIPAL1 | c.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 |
4 | g.47936724A>C | CA356823903 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936724A>G | CA439403949 | CNGA1,NIPAL1 | c.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 |
4 | g.47936724A>T | CA356823906 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936725T>A | CA356823914 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936725T>C | CA356823915 | CNGA1,NIPAL1 | c.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 |
4 | g.47936725T>G | CA356823910 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936725T= | CA1455551686 | CNGA1,NIPAL1 | c.1757A= (p.Asp586=) c.1769A= (p.Asp590=) c.1976A= (p.Asp659=) n.478+22021T= n.563+22021T= c.1994A= (p.Asp665=) | |
4 | g.47936726C>A | CA356823920 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936726C>G | CA356823923 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936726C>T | CA356823925 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936727T>A | CA439403950 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936727T>C | CA439403951 | CNGA1,NIPAL1 | c.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 |
4 | g.47936727T>G | CA439403953 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936727T= | CA1455551687 | CNGA1,NIPAL1 | c.1755A= (p.Pro585=) c.1767A= (p.Pro589=) c.1974A= (p.Pro658=) n.478+22023T= n.563+22023T= c.1992A= (p.Pro664=) | |
4 | g.47936728G>A | CA2911021 | CNGA1,NIPAL1 | c.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 |
4 | g.47936728G>C | CA356823932 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936728G= | CA1455551688 | CNGA1,NIPAL1 | c.1754C= (p.Pro585=) c.1766C= (p.Pro589=) c.1973C= (p.Pro658=) n.478+22024G= n.563+22024G= c.1991C= (p.Pro664=) | |
4 | g.47936728G>T | CA356823934 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936729G>A | CA2911022 | CNGA1,NIPAL1 | c.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 |
4 | g.47936729G>C | CA356823943 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936729G= | CA1455551689 | CNGA1,NIPAL1 | c.1753C= (p.Pro585=) c.1765C= (p.Pro589=) c.1972C= (p.Pro658=) n.478+22025G= n.563+22025G= c.1990C= (p.Pro664=) | |
4 | g.47936729G>T | CA356823940 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936730G>A | CA439403954 | CNGA1,NIPAL1 | c.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 |
4 | g.47936730G>C | CA356823947 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936730G= | CA1455551690 | CNGA1,NIPAL1 | c.1752C= (p.Tyr584=) c.1764C= (p.Tyr588=) c.1971C= (p.Tyr657=) n.478+22026G= n.563+22026G= c.1989C= (p.Tyr663=) | |
4 | g.47936730G>T | CA356823948 | CNGA1,NIPAL1 | c.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 |
4 | g.47936731T>A | CA356823953 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936731T>C | CA356823955 | CNGA1,NIPAL1 | c.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 |
4 | g.47936731T>G | CA356823958 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936732A>C | CA356823966 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936732A>G | CA356823968 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936732A>T | CA356823963 | CNGA1,NIPAL1 | c.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 |
4 | g.47936733C>A | CA356823975 | CNGA1,NIPAL1 | c.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 |
4 | g.47936733C>G | CA356823973 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936733C>T | CA439403956 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936734T>A | CA356823985 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936734T>C | CA356823981 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936734T>G | CA356823982 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936735C>A | CA356823990 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936735C>G | CA356823992 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936735C>T | CA356823994 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936735_47936739delinsCAGTT | CA1455551691 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936736A= | CA1455551692 | CNGA1,NIPAL1 | c.1746T= (p.Thr582=) c.1758T= (p.Thr586=) c.1965T= (p.Thr655=) n.478+22032A= n.563+22032A= c.1983T= (p.Thr661=) | |
4 | g.47936736A>C | CA439403957 | CNGA1,NIPAL1 | c.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 |
4 | g.47936736A>G | CA439403959 | CNGA1,NIPAL1 | c.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 |
4 | g.47936736A>T | CA439403961 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936738_47936741del | CA2911023 | CNGA1,NIPAL1 | c.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 |
4 | g.47936737G>A | CA356824000 | CNGA1,NIPAL1 | c.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 |
4 | g.47936737G>C | CA356824002 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936737G>T | CA356824005 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936738T>A | CA356824010 | CNGA1,NIPAL1 | c.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 |
4 | g.47936738T>C | CA356824012 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936738T>G | CA356824015 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936739T>A | CA439403963 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936739T>C | CA439403964 | CNGA1,NIPAL1 | c.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 |
4 | g.47936739T>G | CA439403965 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936740A>C | CA356824024 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936740A>G | CA356824021 | CNGA1,NIPAL1 | c.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 |
4 | g.47936740A>T | CA356824019 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936741G>A | CA439403966 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936741G>C | CA356824028 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936741G>T | CA356824032 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936742A>C | CA439403969 | CNGA1,NIPAL1 | c.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 |
4 | g.47936742A>G | CA439403971 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936742A>T | CA439403972 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936743G>A | CA356824036 | CNGA1,NIPAL1 | c.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 |
4 | g.47936743G>C | CA356824039 | CNGA1,NIPAL1 | c.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 |
4 | g.47936743G>T | CA356824041 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936744C>A | CA356824046 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936744C>G | CA356824049 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936744C>T | CA356824051 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936745T>A | CA356824056 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936745T>C | CA439403973 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936745T>G | CA356824058 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936746T>A | CA356824063 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936746T>C | CA356824065 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936746T>G | CA356824067 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936747C>A | CA356824074 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936747C>G | CA356824078 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936747C>T | CA356824072 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936748C>A | CA356824082 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936748C= | CA1455551693 | CNGA1,NIPAL1 | c.1734G= (p.Met578=) c.1746G= (p.Met582=) c.1953G= (p.Met651=) n.478+22044C= n.563+22044C= c.1971G= (p.Met657=) | |
4 | g.47936748C>G | CA356824084 | CNGA1,NIPAL1 | c.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 |
4 | g.47936748C>T | CA356824087 | CNGA1,NIPAL1 | c.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 |
4 | g.47936749A= | CA1455551694 | CNGA1,NIPAL1 | c.1733T= (p.Met578=) c.1745T= (p.Met582=) c.1952T= (p.Met651=) n.478+22045A= n.563+22045A= c.1970T= (p.Met657=) | |
4 | g.47936749A>C | CA356824091 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936749A>G | CA356824094 | CNGA1,NIPAL1 | c.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 |
4 | g.47936749A>T | CA2911024 | CNGA1,NIPAL1 | c.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 |
4 | g.47936750T>A | CA356824099 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936750T>C | CA356824101 | CNGA1,NIPAL1 | c.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 |
4 | g.47936750T>G | CA356824104 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936751G>A | CA2911025 | CNGA1,NIPAL1 | c.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 |
4 | g.47936751G>C | CA439403980 | CNGA1,NIPAL1 | c.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 |
4 | g.47936751G= | CA1455551695 | CNGA1,NIPAL1 | c.1731C= (p.Leu577=) c.1743C= (p.Leu581=) c.1950C= (p.Leu650=) n.478+22047G= n.563+22047G= c.1968C= (p.Leu656=) | |
4 | g.47936751G>T | CA439403978 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936752A>C | CA356824110 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936752A>G | CA356824112 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936752A>T | CA356824115 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936753G>A | CA356824118 | CNGA1,NIPAL1 | c.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 |
4 | g.47936753G>C | CA356824122 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936753G= | CA1455551696 | CNGA1,NIPAL1 | c.1729C= (p.Leu577=) c.1741C= (p.Leu581=) c.1948C= (p.Leu650=) n.478+22049G= n.563+22049G= c.1966C= (p.Leu656=) | |
4 | g.47936753G>T | CA356824120 | CNGA1,NIPAL1 | c.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 |
4 | g.47936754G>A | CA439403981 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936754G>C | CA356824125 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936754G= | CA1455551697 | CNGA1,NIPAL1 | c.1728C= (p.Asp576=) c.1740C= (p.Asp580=) c.1947C= (p.Asp649=) n.478+22050G= n.563+22050G= c.1965C= (p.Asp655=) | |
4 | g.47936754G>T | CA356824128 | CNGA1,NIPAL1 | c.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 |
4 | g.47936755T>A | CA356824131 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936755T>C | CA356824134 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936755T>G | CA356824136 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936756C>A | CA356824139 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936756C>G | CA356824142 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936756C>T | CA356824144 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936757A>C | CA356824148 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936757A>G | CA439403982 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936757A>T | CA356824151 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936758T>A | CA356824157 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936758T>C | CA356824160 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936758T>G | CA356824155 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936759C>A | CA356824171 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936759C= | CA1455551699 | CNGA1,NIPAL1 | c.1723G= (p.Asp575=) c.1735G= (p.Asp579=) c.1942G= (p.Asp648=) n.478+22055C= n.563+22055C= c.1960G= (p.Asp654=) | |
4 | g.47936759C>G | CA356824164 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936759C>T | CA356824167 | CNGA1,NIPAL1 | c.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 |
4 | g.47936759_47936760delinsCT | CA1455551698 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936760T>A | CA356824174 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936760T>C | CA439403983 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936760T>G | CA356824176 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936763dup | CA2840080805 | CNGA1,NIPAL1 | c.1722dup (p.Asp575ArgfsTer2) c.1734dup (p.Asp579ArgfsTer2) c.1941dup (p.Asp648ArgfsTer2) n.478+22059dup n.563+22059dup c.1959dup (p.Asp654ArgfsTer2) | |
4 | g.47936763del | CA551650444 | CNGA1,NIPAL1 | c.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 |
4 | g.47936761T>A | CA356824180 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936761T>C | CA356824183 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936761T>G | CA356824185 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936762T>A | CA356824190 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936762T>C | CA356824192 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936762T>G | CA356824193 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936763T>A | CA439403985 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936763T>C | CA439403986 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936763T>G | CA439403987 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936764G>A | CA356824198 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936764G>C | CA356824201 | CNGA1,NIPAL1 | c.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 |
4 | g.47936764G>T | CA356824204 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936765A>C | CA356824208 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936765A>G | CA356824214 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936765A>T | CA356824211 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936766G>A | CA439403989 | CNGA1,NIPAL1 | c.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 |
4 | g.47936766G>C | CA439403990 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936766G>T | CA439403992 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936767A>C | CA356824218 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936767A>G | CA356824221 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936767A>T | CA356824223 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936768G>A | CA356824225 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936768G>C | CA356824227 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936768G>T | CA356824231 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936769A>C | CA356824235 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936769A>G | CA439403993 | CNGA1,NIPAL1 | c.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 |
4 | g.47936769A>T | CA356824237 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936770C>A | CA356824241 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936770C= | CA1455551700 | CNGA1,NIPAL1 | c.1712G= (p.Cys571=) c.1724G= (p.Cys575=) c.1931G= (p.Cys644=) n.478+22066C= n.563+22066C= c.1949G= (p.Cys650=) | |
4 | g.47936770C>G | CA356824244 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936770C>T | CA10621162 | CNGA1,NIPAL1 | c.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 |
4 | g.47936771A>C | CA356824252 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936771A>G | CA356824257 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936771A>T | CA356824250 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936772G>A | CA439403995 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936772G>C | CA356824261 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936772G>T | CA356824264 | CNGA1,NIPAL1 | c.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 |
4 | g.47936773A>C | CA356824268 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936773A>G | CA356824269 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936773A>T | CA356824271 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936774A= | CA1455551701 | CNGA1,NIPAL1 | c.1708T= (p.Phe570=) c.1720T= (p.Phe574=) c.1927T= (p.Phe643=) n.478+22070A= n.563+22070A= c.1945T= (p.Phe649=) | |
4 | g.47936774A>C | CA356824276 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936774A>G | CA356824279 | CNGA1,NIPAL1 | c.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 |
4 | g.47936774A>T | CA356824282 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936775C>A | CA439403997 | CNGA1,NIPAL1 | c.1707G>T (p.Leu569=) c.1719G>T (p.Leu573=) c.1926G>T (p.Leu642=) n.478+22071C>A n.563+22071C>A c.1944G>T (p.Leu648=) | |
4 | g.47936775C>G | CA439403999 | CNGA1,NIPAL1 | c.1707G>C (p.Leu569=) c.1719G>C (p.Leu573=) c.1926G>C (p.Leu642=) n.478+22071C>G n.563+22071C>G c.1944G>C (p.Leu648=) | |
4 | g.47936775C>T | CA439404000 | CNGA1,NIPAL1 | c.1707G>A (p.Leu569=) c.1719G>A (p.Leu573=) c.1926G>A (p.Leu642=) n.478+22071C>T n.563+22071C>T c.1944G>A (p.Leu648=) | |
4 | g.47936776A>C | CA356824286 | CNGA1,NIPAL1 | c.1706T>G (p.Leu569Arg) c.1718T>G (p.Leu573Arg) c.1925T>G (p.Leu642Arg) n.478+22072A>C n.563+22072A>C c.1943T>G (p.Leu648Arg) | |
4 | g.47936776A>G | CA356824288 | CNGA1,NIPAL1 | c.1706T>C (p.Leu569Pro) c.1718T>C (p.Leu573Pro) c.1925T>C (p.Leu642Pro) n.478+22072A>G n.563+22072A>G c.1943T>C (p.Leu648Pro) | |
4 | g.47936776A>T | CA356824290 | CNGA1,NIPAL1 | c.1706T>A (p.Leu569Gln) c.1718T>A (p.Leu573Gln) c.1925T>A (p.Leu642Gln) n.478+22072A>T n.563+22072A>T c.1943T>A (p.Leu648Gln) |