Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
4g.47936775C>ACA439403997CNGA1,NIPAL1c.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=)
4g.47936775C>GCA439403999CNGA1,NIPAL1c.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=)
4g.47936775C>TCA439404000CNGA1,NIPAL1c.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=)
4g.47936776A>CCA356824286CNGA1,NIPAL1c.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)
4g.47936776A>GCA356824288CNGA1,NIPAL1c.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)
4g.47936776A>TCA356824290CNGA1,NIPAL1c.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)
4g.47936777G>ACA439404002CNGA1,NIPAL1c.1705C>T (p.Leu569=)
c.1717C>T (p.Leu573=)
c.1924C>T (p.Leu642=)
n.478+22073G>A
n.563+22073G>A
c.1942C>T (p.Leu648=)
 gnomAD v4
4g.47936777G>CCA356824295CNGA1,NIPAL1c.1705C>G (p.Leu569Val)
c.1717C>G (p.Leu573Val)
c.1924C>G (p.Leu642Val)
n.478+22073G>C
n.563+22073G>C
c.1942C>G (p.Leu648Val)
4g.47936777G>TCA356824296CNGA1,NIPAL1c.1705C>A (p.Leu569Met)
c.1717C>A (p.Leu573Met)
c.1924C>A (p.Leu642Met)
n.478+22073G>T
n.563+22073G>T
c.1942C>A (p.Leu648Met)
 gnomAD v4
4g.47936777_47936778insACA2499217217CNGA1,NIPAL1c.1704_1705insT (p.Leu569SerfsTer8)
c.1716_1717insT (p.Leu573SerfsTer8)
c.1923_1924insT (p.Leu642SerfsTer8)
n.478+22073_478+22074insA
n.563+22073_563+22074insA
c.1941_1942insT (p.Leu648SerfsTer8)
 ClinVar dbSNP
4g.47936778G>ACA439404003CNGA1,NIPAL1c.1704C>T (p.Asp568=)
c.1716C>T (p.Asp572=)
c.1923C>T (p.Asp641=)
n.478+22074G>A
n.563+22074G>A
c.1941C>T (p.Asp647=)
4g.47936778G>CCA356824302CNGA1,NIPAL1c.1704C>G (p.Asp568Glu)
c.1716C>G (p.Asp572Glu)
c.1923C>G (p.Asp641Glu)
n.478+22074G>C
n.563+22074G>C
c.1941C>G (p.Asp647Glu)
4g.47936778G=CA1455551702CNGA1,NIPAL1c.1704C= (p.Asp568=)
c.1716C= (p.Asp572=)
c.1923C= (p.Asp641=)
n.478+22074G=
n.563+22074G=
c.1941C= (p.Asp647=)
4g.47936778G>TCA96688181CNGA1,NIPAL1c.1704C>A (p.Asp568Glu)
c.1716C>A (p.Asp572Glu)
c.1923C>A (p.Asp641Glu)
n.478+22074G>T
n.563+22074G>T
c.1941C>A (p.Asp647Glu)
 dbSNP gnomAD v4
4g.47936779T>ACA356824307CNGA1,NIPAL1c.1703A>T (p.Asp568Val)
c.1715A>T (p.Asp572Val)
c.1922A>T (p.Asp641Val)
n.478+22075T>A
n.563+22075T>A
c.1940A>T (p.Asp647Val)
4g.47936779T>CCA356824309CNGA1,NIPAL1c.1703A>G (p.Asp568Gly)
c.1715A>G (p.Asp572Gly)
c.1922A>G (p.Asp641Gly)
n.478+22075T>C
n.563+22075T>C
c.1940A>G (p.Asp647Gly)
4g.47936779T>GCA356824312CNGA1,NIPAL1c.1703A>C (p.Asp568Ala)
c.1715A>C (p.Asp572Ala)
c.1922A>C (p.Asp641Ala)
n.478+22075T>G
n.563+22075T>G
c.1940A>C (p.Asp647Ala)
4g.47936779dupCA645531849CNGA1,NIPAL1c.1703dup (p.Asp568GlufsTer9)
c.1715dup (p.Asp572GlufsTer9)
c.1922dup (p.Asp641GlufsTer9)
n.478+22075dup
n.563+22075dup
c.1940dup (p.Asp647GlufsTer9)
 COSMIC
4g.47936779_47936793delinsTCTGAGTAGCCAATACA1455551703CNGA1,NIPAL1c.1689_1703delinsTATTGGCTACTCAGA (p.Ser563=)
c.1701_1715delinsTATTGGCTACTCAGA (p.Ser567=)
c.1908_1922delinsTATTGGCTACTCAGA (p.Ser636=)
n.478+22075_478+22089delinsTCTGAGTAGCCAATA
n.563+22075_563+22089delinsTCTGAGTAGCCAATA
c.1926_1940delinsTATTGGCTACTCAGA (p.Ser642=)
4g.47936780C>ACA356824318CNGA1,NIPAL1c.1702G>T (p.Asp568Tyr)
c.1714G>T (p.Asp572Tyr)
c.1921G>T (p.Asp641Tyr)
n.478+22076C>A
n.563+22076C>A
c.1939G>T (p.Asp647Tyr)
4g.47936780C>GCA356824321CNGA1,NIPAL1c.1702G>C (p.Asp568His)
c.1714G>C (p.Asp572His)
c.1921G>C (p.Asp641His)
n.478+22076C>G
n.563+22076C>G
c.1939G>C (p.Asp647His)
4g.47936780C>TCA356824324CNGA1,NIPAL1c.1702G>A (p.Asp568Asn)
c.1714G>A (p.Asp572Asn)
c.1921G>A (p.Asp641Asn)
n.478+22076C>T
n.563+22076C>T
c.1939G>A (p.Asp647Asn)
4g.47936782_47936795delCA2911026CNGA1,NIPAL1c.1689_1702del (p.Ser563ArgfsTer9)
c.1701_1714del (p.Ser567ArgfsTer9)
c.1908_1921del (p.Ser636ArgfsTer9)
n.478+22078_478+22091del
n.563+22078_563+22091del
c.1926_1939del (p.Ser642ArgfsTer9)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936781T>ACA439404008CNGA1,NIPAL1c.1701A>T (p.Ser567=)
c.1713A>T (p.Ser571=)
c.1920A>T (p.Ser640=)
n.478+22077T>A
n.563+22077T>A
c.1938A>T (p.Ser646=)
4g.47936781T>CCA439404009CNGA1,NIPAL1c.1701A>G (p.Ser567=)
c.1713A>G (p.Ser571=)
c.1920A>G (p.Ser640=)
n.478+22077T>C
n.563+22077T>C
c.1938A>G (p.Ser646=)
4g.47936781T>GCA439404010CNGA1,NIPAL1c.1701A>C (p.Ser567=)
c.1713A>C (p.Ser571=)
c.1920A>C (p.Ser640=)
n.478+22077T>G
n.563+22077T>G
c.1938A>C (p.Ser646=)
4g.47936782G>ACA356824329CNGA1,NIPAL1c.1700C>T (p.Ser567Leu)
c.1712C>T (p.Ser571Leu)
c.1919C>T (p.Ser640Leu)
n.478+22078G>A
n.563+22078G>A
c.1937C>T (p.Ser646Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47936782G>CCA356824335CNGA1,NIPAL1c.1700C>G (p.Ser567Ter)
c.1712C>G (p.Ser571Ter)
c.1919C>G (p.Ser640Ter)
n.478+22078G>C
n.563+22078G>C
c.1937C>G (p.Ser646Ter)
4g.47936782G=CA1455551704CNGA1,NIPAL1c.1700C= (p.Ser567=)
c.1712C= (p.Ser571=)
c.1919C= (p.Ser640=)
n.478+22078G=
n.563+22078G=
c.1937C= (p.Ser646=)
4g.47936782G>TCA356824332CNGA1,NIPAL1c.1700C>A (p.Ser567Ter)
c.1712C>A (p.Ser571Ter)
c.1919C>A (p.Ser640Ter)
n.478+22078G>T
n.563+22078G>T
c.1937C>A (p.Ser646Ter)
4g.47936783A>CCA356824338CNGA1,NIPAL1c.1699T>G (p.Ser567Ala)
c.1711T>G (p.Ser571Ala)
c.1918T>G (p.Ser640Ala)
n.478+22079A>C
n.563+22079A>C
c.1936T>G (p.Ser646Ala)
4g.47936783A>GCA356824341CNGA1,NIPAL1c.1699T>C (p.Ser567Pro)
c.1711T>C (p.Ser571Pro)
c.1918T>C (p.Ser640Pro)
n.478+22079A>G
n.563+22079A>G
c.1936T>C (p.Ser646Pro)
4g.47936783A>TCA356824344CNGA1,NIPAL1c.1699T>A (p.Ser567Thr)
c.1711T>A (p.Ser571Thr)
c.1918T>A (p.Ser640Thr)
n.478+22079A>T
n.563+22079A>T
c.1936T>A (p.Ser646Thr)
 gnomAD v4
4g.47936784G>ACA439404012CNGA1,NIPAL1c.1698C>T (p.Tyr566=)
c.1710C>T (p.Tyr570=)
c.1917C>T (p.Tyr639=)
n.478+22080G>A
n.563+22080G>A
c.1935C>T (p.Tyr645=)
 dbSNP gnomAD v3 gnomAD v4
4g.47936784G>CCA356824349CNGA1,NIPAL1c.1698C>G (p.Tyr566Ter)
c.1710C>G (p.Tyr570Ter)
c.1917C>G (p.Tyr639Ter)
n.478+22080G>C
n.563+22080G>C
c.1935C>G (p.Tyr645Ter)
4g.47936784G=CA1455551705CNGA1,NIPAL1c.1698C= (p.Tyr566=)
c.1710C= (p.Tyr570=)
c.1917C= (p.Tyr639=)
n.478+22080G=
n.563+22080G=
c.1935C= (p.Tyr645=)
4g.47936784G>TCA2911027CNGA1,NIPAL1c.1698C>A (p.Tyr566Ter)
c.1710C>A (p.Tyr570Ter)
c.1917C>A (p.Tyr639Ter)
n.478+22080G>T
n.563+22080G>T
c.1935C>A (p.Tyr645Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936785T>ACA356824356CNGA1,NIPAL1c.1697A>T (p.Tyr566Phe)
c.1709A>T (p.Tyr570Phe)
c.1916A>T (p.Tyr639Phe)
n.478+22081T>A
n.563+22081T>A
c.1934A>T (p.Tyr645Phe)
4g.47936785T>CCA356824358CNGA1,NIPAL1c.1697A>G (p.Tyr566Cys)
c.1709A>G (p.Tyr570Cys)
c.1916A>G (p.Tyr639Cys)
n.478+22081T>C
n.563+22081T>C
c.1934A>G (p.Tyr645Cys)
4g.47936785T>GCA356824354CNGA1,NIPAL1c.1697A>C (p.Tyr566Ser)
c.1709A>C (p.Tyr570Ser)
c.1916A>C (p.Tyr639Ser)
n.478+22081T>G
n.563+22081T>G
c.1934A>C (p.Tyr645Ser)
4g.47936786A>CCA356824364CNGA1,NIPAL1c.1696T>G (p.Tyr566Asp)
c.1708T>G (p.Tyr570Asp)
c.1915T>G (p.Tyr639Asp)
n.478+22082A>C
n.563+22082A>C
c.1933T>G (p.Tyr645Asp)
4g.47936786A>GCA356824362CNGA1,NIPAL1c.1696T>C (p.Tyr566His)
c.1708T>C (p.Tyr570His)
c.1915T>C (p.Tyr639His)
n.478+22082A>G
n.563+22082A>G
c.1933T>C (p.Tyr645His)
 gnomAD v4
4g.47936786A>TCA356824367CNGA1,NIPAL1c.1696T>A (p.Tyr566Asn)
c.1708T>A (p.Tyr570Asn)
c.1915T>A (p.Tyr639Asn)
n.478+22082A>T
n.563+22082A>T
c.1933T>A (p.Tyr645Asn)
4g.47936787G>ACA439404015CNGA1,NIPAL1c.1695C>T (p.Gly565=)
c.1707C>T (p.Gly569=)
c.1914C>T (p.Gly638=)
n.478+22083G>A
n.563+22083G>A
c.1932C>T (p.Gly644=)
 gnomAD v4
4g.47936787G>CCA439404014CNGA1,NIPAL1c.1695C>G (p.Gly565=)
c.1707C>G (p.Gly569=)
c.1914C>G (p.Gly638=)
n.478+22083G>C
n.563+22083G>C
c.1932C>G (p.Gly644=)
4g.47936787G>TCA439404013CNGA1,NIPAL1c.1695C>A (p.Gly565=)
c.1707C>A (p.Gly569=)
c.1914C>A (p.Gly638=)
n.478+22083G>T
n.563+22083G>T
c.1932C>A (p.Gly644=)
4g.47936788C>ACA356824368CNGA1,NIPAL1c.1694G>T (p.Gly565Val)
c.1706G>T (p.Gly569Val)
c.1913G>T (p.Gly638Val)
n.478+22084C>A
n.563+22084C>A
c.1931G>T (p.Gly644Val)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
4g.47936788C=CA1455551706CNGA1,NIPAL1c.1694G= (p.Gly565=)
c.1706G= (p.Gly569=)
c.1913G= (p.Gly638=)
n.478+22084C=
n.563+22084C=
c.1931G= (p.Gly644=)
4g.47936788C>GCA356824370CNGA1,NIPAL1c.1694G>C (p.Gly565Ala)
c.1706G>C (p.Gly569Ala)
c.1913G>C (p.Gly638Ala)
n.478+22084C>G
n.563+22084C>G
c.1931G>C (p.Gly644Ala)
4g.47936788C>TCA356824372CNGA1,NIPAL1c.1694G>A (p.Gly565Asp)
c.1706G>A (p.Gly569Asp)
c.1913G>A (p.Gly638Asp)
n.478+22084C>T
n.563+22084C>T
c.1931G>A (p.Gly644Asp)
4g.47936789C>ACA356824374CNGA1,NIPAL1c.1693G>T (p.Gly565Cys)
c.1705G>T (p.Gly569Cys)
c.1912G>T (p.Gly638Cys)
n.478+22085C>A
n.563+22085C>A
c.1930G>T (p.Gly644Cys)
4g.47936789C=CA1455551707CNGA1,NIPAL1c.1693G= (p.Gly565=)
c.1705G= (p.Gly569=)
c.1912G= (p.Gly638=)
n.478+22085C=
n.563+22085C=
c.1930G= (p.Gly644=)
4g.47936789C>GCA356824376CNGA1,NIPAL1c.1693G>C (p.Gly565Arg)
c.1705G>C (p.Gly569Arg)
c.1912G>C (p.Gly638Arg)
n.478+22085C>G
n.563+22085C>G
c.1930G>C (p.Gly644Arg)
4g.47936789C>TCA356824378CNGA1,NIPAL1c.1693G>A (p.Gly565Ser)
c.1705G>A (p.Gly569Ser)
c.1912G>A (p.Gly638Ser)
n.478+22085C>T
n.563+22085C>T
c.1930G>A (p.Gly644Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.47936789_47936790delCA2670552345CNGA1,NIPAL1c.1692_1693del (p.Ile564MetfsTer12)
c.1704_1705del (p.Ile568MetfsTer12)
c.1911_1912del (p.Ile637MetfsTer12)
n.478+22085_478+22086del
n.563+22085_563+22086del
c.1929_1930del (p.Ile643MetfsTer12)
 gnomAD v4
4g.47936790A>CCA356824379CNGA1,NIPAL1c.1692T>G (p.Ile564Met)
c.1704T>G (p.Ile568Met)
c.1911T>G (p.Ile637Met)
n.478+22086A>C
n.563+22086A>C
c.1929T>G (p.Ile643Met)
4g.47936790A>GCA439404019CNGA1,NIPAL1c.1692T>C (p.Ile564=)
c.1704T>C (p.Ile568=)
c.1911T>C (p.Ile637=)
n.478+22086A>G
n.563+22086A>G
c.1929T>C (p.Ile643=)
4g.47936790A>TCA439404020CNGA1,NIPAL1c.1692T>A (p.Ile564=)
c.1704T>A (p.Ile568=)
c.1911T>A (p.Ile637=)
n.478+22086A>T
n.563+22086A>T
c.1929T>A (p.Ile643=)
4g.47936791A=CA1455551708CNGA1,NIPAL1c.1691T= (p.Ile564=)
c.1703T= (p.Ile568=)
c.1910T= (p.Ile637=)
n.478+22087A=
n.563+22087A=
c.1928T= (p.Ile643=)
4g.47936791A>CCA356824382CNGA1,NIPAL1c.1691T>G (p.Ile564Ser)
c.1703T>G (p.Ile568Ser)
c.1910T>G (p.Ile637Ser)
n.478+22087A>C
n.563+22087A>C
c.1928T>G (p.Ile643Ser)
 dbSNP
4g.47936791A>GCA356824384CNGA1,NIPAL1c.1691T>C (p.Ile564Thr)
c.1703T>C (p.Ile568Thr)
c.1910T>C (p.Ile637Thr)
n.478+22087A>G
n.563+22087A>G
c.1928T>C (p.Ile643Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936791A>TCA356824387CNGA1,NIPAL1c.1691T>A (p.Ile564Asn)
c.1703T>A (p.Ile568Asn)
c.1910T>A (p.Ile637Asn)
n.478+22087A>T
n.563+22087A>T
c.1928T>A (p.Ile643Asn)
4g.47936792T>ACA356824391CNGA1,NIPAL1c.1690A>T (p.Ile564Phe)
c.1702A>T (p.Ile568Phe)
c.1909A>T (p.Ile637Phe)
n.478+22088T>A
n.563+22088T>A
c.1927A>T (p.Ile643Phe)
4g.47936792T>CCA356824395CNGA1,NIPAL1c.1690A>G (p.Ile564Val)
c.1702A>G (p.Ile568Val)
c.1909A>G (p.Ile637Val)
n.478+22088T>C
n.563+22088T>C
c.1927A>G (p.Ile643Val)
4g.47936792T>GCA2911028CNGA1,NIPAL1c.1690A>C (p.Ile564Leu)
c.1702A>C (p.Ile568Leu)
c.1909A>C (p.Ile637Leu)
n.478+22088T>G
n.563+22088T>G
c.1927A>C (p.Ile643Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936792T=CA1455551709CNGA1,NIPAL1c.1690A= (p.Ile564=)
c.1702A= (p.Ile568=)
c.1909A= (p.Ile637=)
n.478+22088T=
n.563+22088T=
c.1927A= (p.Ile643=)
4g.47936793A=CA1455551710CNGA1,NIPAL1c.1689T= (p.Ser563=)
c.1701T= (p.Ser567=)
c.1908T= (p.Ser636=)
n.478+22089A=
n.563+22089A=
c.1926T= (p.Ser642=)
4g.47936793A>CCA356824399CNGA1,NIPAL1c.1689T>G (p.Ser563Arg)
c.1701T>G (p.Ser567Arg)
c.1908T>G (p.Ser636Arg)
n.478+22089A>C
n.563+22089A>C
c.1926T>G (p.Ser642Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936793A>GCA439404025CNGA1,NIPAL1c.1689T>C (p.Ser563=)
c.1701T>C (p.Ser567=)
c.1908T>C (p.Ser636=)
n.478+22089A>G
n.563+22089A>G
c.1926T>C (p.Ser642=)
 COSMIC
4g.47936793A>TCA356824402CNGA1,NIPAL1c.1689T>A (p.Ser563Arg)
c.1701T>A (p.Ser567Arg)
c.1908T>A (p.Ser636Arg)
n.478+22089A>T
n.563+22089A>T
c.1926T>A (p.Ser642Arg)
4g.47936793_47936794delinsACCA1455551711CNGA1,NIPAL1c.1688_1689delinsGT (p.Ser563=)
c.1700_1701delinsGT (p.Ser567=)
c.1907_1908delinsGT (p.Ser636=)
n.478+22089_478+22090delinsAC
n.563+22089_563+22090delinsAC
c.1925_1926delinsGT (p.Ser642=)
4g.47936794delCA916082643CNGA1,NIPAL1c.1688del (p.Ser563IlefsTer19)
c.1700del (p.Ser567IlefsTer19)
c.1907del (p.Ser636IlefsTer19)
n.478+22090del
n.563+22090del
c.1925del (p.Ser642IlefsTer19)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47936794C>ACA356824406CNGA1,NIPAL1c.1688G>T (p.Ser563Ile)
c.1700G>T (p.Ser567Ile)
c.1907G>T (p.Ser636Ile)
n.478+22090C>A
n.563+22090C>A
c.1925G>T (p.Ser642Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47936794C=CA1455551712CNGA1,NIPAL1c.1688G= (p.Ser563=)
c.1700G= (p.Ser567=)
c.1907G= (p.Ser636=)
n.478+22090C=
n.563+22090C=
c.1925G= (p.Ser642=)
4g.47936794C>GCA356824407CNGA1,NIPAL1c.1688G>C (p.Ser563Thr)
c.1700G>C (p.Ser567Thr)
c.1907G>C (p.Ser636Thr)
n.478+22090C>G
n.563+22090C>G
c.1925G>C (p.Ser642Thr)
4g.47936794C>TCA356824409CNGA1,NIPAL1c.1688G>A (p.Ser563Asn)
c.1700G>A (p.Ser567Asn)
c.1907G>A (p.Ser636Asn)
n.478+22090C>T
n.563+22090C>T
c.1925G>A (p.Ser642Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.47936795T>ACA356824412CNGA1,NIPAL1c.1687A>T (p.Ser563Cys)
c.1699A>T (p.Ser567Cys)
c.1906A>T (p.Ser636Cys)
n.478+22091T>A
n.563+22091T>A
c.1924A>T (p.Ser642Cys)
4g.47936795T>CCA2911029CNGA1,NIPAL1c.1687A>G (p.Ser563Gly)
c.1699A>G (p.Ser567Gly)
c.1906A>G (p.Ser636Gly)
n.478+22091T>C
n.563+22091T>C
c.1924A>G (p.Ser642Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936795T>GCA356824415CNGA1,NIPAL1c.1687A>C (p.Ser563Arg)
c.1699A>C (p.Ser567Arg)
c.1906A>C (p.Ser636Arg)
n.478+22091T>G
n.563+22091T>G
c.1924A>C (p.Ser642Arg)
4g.47936795T=CA1455551713CNGA1,NIPAL1c.1687A= (p.Ser563=)
c.1699A= (p.Ser567=)
c.1906A= (p.Ser636=)
n.478+22091T=
n.563+22091T=
c.1924A= (p.Ser642=)
4g.47936798delCA645531850CNGA1,NIPAL1c.1687del (p.Ser563ValfsTer19)
c.1699del (p.Ser567ValfsTer19)
c.1906del (p.Ser636ValfsTer19)
n.478+22094del
n.563+22094del
c.1924del (p.Ser642ValfsTer19)
 COSMIC COSMIC
4g.47936796T>ACA356824418CNGA1,NIPAL1c.1686A>T (p.Lys562Asn)
c.1698A>T (p.Lys566Asn)
c.1905A>T (p.Lys635Asn)
n.478+22092T>A
n.563+22092T>A
c.1923A>T (p.Lys641Asn)
4g.47936796T>CCA439404026CNGA1,NIPAL1c.1686A>G (p.Lys562=)
c.1698A>G (p.Lys566=)
c.1905A>G (p.Lys635=)
n.478+22092T>C
n.563+22092T>C
c.1923A>G (p.Lys641=)
4g.47936796T>GCA356824421CNGA1,NIPAL1c.1686A>C (p.Lys562Asn)
c.1698A>C (p.Lys566Asn)
c.1905A>C (p.Lys635Asn)
n.478+22092T>G
n.563+22092T>G
c.1923A>C (p.Lys641Asn)
4g.47936797T>ACA356824426CNGA1,NIPAL1c.1685A>T (p.Lys562Ile)
c.1697A>T (p.Lys566Ile)
c.1904A>T (p.Lys635Ile)
n.478+22093T>A
n.563+22093T>A
c.1922A>T (p.Lys641Ile)
4g.47936797T>CCA356824427CNGA1,NIPAL1c.1685A>G (p.Lys562Arg)
c.1697A>G (p.Lys566Arg)
c.1904A>G (p.Lys635Arg)
n.478+22093T>C
n.563+22093T>C
c.1922A>G (p.Lys641Arg)
4g.47936797T>GCA356824431CNGA1,NIPAL1c.1685A>C (p.Lys562Thr)
c.1697A>C (p.Lys566Thr)
c.1904A>C (p.Lys635Thr)
n.478+22093T>G
n.563+22093T>G
c.1922A>C (p.Lys641Thr)
 gnomAD v4
4g.47936798T>ACA356824438CNGA1,NIPAL1c.1684A>T (p.Lys562Ter)
c.1696A>T (p.Lys566Ter)
c.1903A>T (p.Lys635Ter)
n.478+22094T>A
n.563+22094T>A
c.1921A>T (p.Lys641Ter)
4g.47936798T>CCA356824440CNGA1,NIPAL1c.1684A>G (p.Lys562Glu)
c.1696A>G (p.Lys566Glu)
c.1903A>G (p.Lys635Glu)
n.478+22094T>C
n.563+22094T>C
c.1921A>G (p.Lys641Glu)
4g.47936798T>GCA356824436CNGA1,NIPAL1c.1684A>C (p.Lys562Gln)
c.1696A>C (p.Lys566Gln)
c.1903A>C (p.Lys635Gln)
n.478+22094T>G
n.563+22094T>G
c.1921A>C (p.Lys641Gln)
4g.47936799A>CCA356824445CNGA1,NIPAL1c.1683T>G (p.Ile561Met)
c.1695T>G (p.Ile565Met)
c.1902T>G (p.Ile634Met)
n.478+22095A>C
n.563+22095A>C
c.1920T>G (p.Ile640Met)
4g.47936799A>GCA439404030CNGA1,NIPAL1c.1683T>C (p.Ile561=)
c.1695T>C (p.Ile565=)
c.1902T>C (p.Ile634=)
n.478+22095A>G
n.563+22095A>G
c.1920T>C (p.Ile640=)
4g.47936799A>TCA439404031CNGA1,NIPAL1c.1683T>A (p.Ile561=)
c.1695T>A (p.Ile565=)
c.1902T>A (p.Ile634=)
n.478+22095A>T
n.563+22095A>T
c.1920T>A (p.Ile640=)
4g.47936800A=CA1455551714CNGA1,NIPAL1c.1682T= (p.Ile561=)
c.1694T= (p.Ile565=)
c.1901T= (p.Ile634=)
n.478+22096A=
n.563+22096A=
c.1919T= (p.Ile640=)
4g.47936800A>CCA2911030CNGA1,NIPAL1c.1682T>G (p.Ile561Ser)
c.1694T>G (p.Ile565Ser)
c.1901T>G (p.Ile634Ser)
n.478+22096A>C
n.563+22096A>C
c.1919T>G (p.Ile640Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936800A>GCA356824451CNGA1,NIPAL1c.1682T>C (p.Ile561Thr)
c.1694T>C (p.Ile565Thr)
c.1901T>C (p.Ile634Thr)
n.478+22096A>G
n.563+22096A>G
c.1919T>C (p.Ile640Thr)
4g.47936800A>TCA356824454CNGA1,NIPAL1c.1682T>A (p.Ile561Asn)
c.1694T>A (p.Ile565Asn)
c.1901T>A (p.Ile634Asn)
n.478+22096A>T
n.563+22096A>T
c.1919T>A (p.Ile640Asn)
4g.47936801T>ACA356824457CNGA1,NIPAL1c.1681A>T (p.Ile561Phe)
c.1693A>T (p.Ile565Phe)
c.1900A>T (p.Ile634Phe)
n.478+22097T>A
n.563+22097T>A
c.1918A>T (p.Ile640Phe)
4g.47936801T>CCA356824459CNGA1,NIPAL1c.1681A>G (p.Ile561Val)
c.1693A>G (p.Ile565Val)
c.1900A>G (p.Ile634Val)
n.478+22097T>C
n.563+22097T>C
c.1918A>G (p.Ile640Val)
 gnomAD v4
4g.47936801T>GCA356824461CNGA1,NIPAL1c.1681A>C (p.Ile561Leu)
c.1693A>C (p.Ile565Leu)
c.1900A>C (p.Ile634Leu)
n.478+22097T>G
n.563+22097T>G
c.1918A>C (p.Ile640Leu)
4g.47936802A>CCA356824464CNGA1,NIPAL1c.1680T>G (p.Asn560Lys)
c.1692T>G (p.Asn564Lys)
c.1899T>G (p.Asn633Lys)
n.478+22098A>C
n.563+22098A>C
c.1917T>G (p.Asn639Lys)
4g.47936802A>GCA439404035CNGA1,NIPAL1c.1680T>C (p.Asn560=)
c.1692T>C (p.Asn564=)
c.1899T>C (p.Asn633=)
n.478+22098A>G
n.563+22098A>G
c.1917T>C (p.Asn639=)
4g.47936802A>TCA356824467CNGA1,NIPAL1c.1680T>A (p.Asn560Lys)
c.1692T>A (p.Asn564Lys)
c.1899T>A (p.Asn633Lys)
n.478+22098A>T
n.563+22098A>T
c.1917T>A (p.Asn639Lys)
4g.47936803T>ACA356824471CNGA1,NIPAL1c.1679A>T (p.Asn560Ile)
c.1691A>T (p.Asn564Ile)
c.1898A>T (p.Asn633Ile)
n.478+22099T>A
n.563+22099T>A
c.1916A>T (p.Asn639Ile)
4g.47936803T>CCA356824474CNGA1,NIPAL1c.1679A>G (p.Asn560Ser)
c.1691A>G (p.Asn564Ser)
c.1898A>G (p.Asn633Ser)
n.478+22099T>C
n.563+22099T>C
c.1916A>G (p.Asn639Ser)
4g.47936803T>GCA356824476CNGA1,NIPAL1c.1679A>C (p.Asn560Thr)
c.1691A>C (p.Asn564Thr)
c.1898A>C (p.Asn633Thr)
n.478+22099T>G
n.563+22099T>G
c.1916A>C (p.Asn639Thr)
4g.47936804T>ACA356824481CNGA1,NIPAL1c.1678A>T (p.Asn560Tyr)
c.1690A>T (p.Asn564Tyr)
c.1897A>T (p.Asn633Tyr)
n.478+22100T>A
n.563+22100T>A
c.1915A>T (p.Asn639Tyr)
4g.47936804T>CCA356824484CNGA1,NIPAL1c.1678A>G (p.Asn560Asp)
c.1690A>G (p.Asn564Asp)
c.1897A>G (p.Asn633Asp)
n.478+22100T>C
n.563+22100T>C
c.1915A>G (p.Asn639Asp)
4g.47936804T>GCA356824479CNGA1,NIPAL1c.1678A>C (p.Asn560His)
c.1690A>C (p.Asn564His)
c.1897A>C (p.Asn633His)
n.478+22100T>G
n.563+22100T>G
c.1915A>C (p.Asn639His)
4g.47936805G>ACA439404037CNGA1,NIPAL1c.1677C>T (p.Ala559=)
c.1689C>T (p.Ala563=)
c.1896C>T (p.Ala632=)
n.478+22101G>A
n.563+22101G>A
c.1914C>T (p.Ala638=)
4g.47936805G>CCA439404038CNGA1,NIPAL1c.1677C>G (p.Ala559=)
c.1689C>G (p.Ala563=)
c.1896C>G (p.Ala632=)
n.478+22101G>C
n.563+22101G>C
c.1914C>G (p.Ala638=)
4g.47936805G>TCA439404040CNGA1,NIPAL1c.1677C>A (p.Ala559=)
c.1689C>A (p.Ala563=)
c.1896C>A (p.Ala632=)
n.478+22101G>T
n.563+22101G>T
c.1914C>A (p.Ala638=)
4g.47936806G>ACA356824488CNGA1,NIPAL1c.1676C>T (p.Ala559Val)
c.1688C>T (p.Ala563Val)
c.1895C>T (p.Ala632Val)
n.478+22102G>A
n.563+22102G>A
c.1913C>T (p.Ala638Val)
4g.47936806G>CCA356824491CNGA1,NIPAL1c.1676C>G (p.Ala559Gly)
c.1688C>G (p.Ala563Gly)
c.1895C>G (p.Ala632Gly)
n.478+22102G>C
n.563+22102G>C
c.1913C>G (p.Ala638Gly)
4g.47936806G>TCA356824494CNGA1,NIPAL1c.1676C>A (p.Ala559Asp)
c.1688C>A (p.Ala563Asp)
c.1895C>A (p.Ala632Asp)
n.478+22102G>T
n.563+22102G>T
c.1913C>A (p.Ala638Asp)
4g.47936807C>ACA356824496CNGA1,NIPAL1c.1675G>T (p.Ala559Ser)
c.1687G>T (p.Ala563Ser)
c.1894G>T (p.Ala632Ser)
n.478+22103C>A
n.563+22103C>A
c.1912G>T (p.Ala638Ser)
 dbSNP
4g.47936807C=CA1455551715CNGA1,NIPAL1c.1675G= (p.Ala559=)
c.1687G= (p.Ala563=)
c.1894G= (p.Ala632=)
n.478+22103C=
n.563+22103C=
c.1912G= (p.Ala638=)
4g.47936807C>GCA356824499CNGA1,NIPAL1c.1675G>C (p.Ala559Pro)
c.1687G>C (p.Ala563Pro)
c.1894G>C (p.Ala632Pro)
n.478+22103C>G
n.563+22103C>G
c.1912G>C (p.Ala638Pro)
4g.47936807C>TCA356824503CNGA1,NIPAL1c.1675G>A (p.Ala559Thr)
c.1687G>A (p.Ala563Thr)
c.1894G>A (p.Ala632Thr)
n.478+22103C>T
n.563+22103C>T
c.1912G>A (p.Ala638Thr)
 gnomAD v4
4g.47936808C>ACA439404045CNGA1,NIPAL1c.1674G>T (p.Thr558=)
c.1686G>T (p.Thr562=)
c.1893G>T (p.Thr631=)
n.478+22104C>A
n.563+22104C>A
c.1911G>T (p.Thr637=)
4g.47936808C=CA1455551716CNGA1,NIPAL1c.1674G= (p.Thr558=)
c.1686G= (p.Thr562=)
c.1893G= (p.Thr631=)
n.478+22104C=
n.563+22104C=
c.1911G= (p.Thr637=)
4g.47936808C>GCA439404046CNGA1,NIPAL1c.1674G>C (p.Thr558=)
c.1686G>C (p.Thr562=)
c.1893G>C (p.Thr631=)
n.478+22104C>G
n.563+22104C>G
c.1911G>C (p.Thr637=)
4g.47936808C>TCA439404047CNGA1,NIPAL1c.1674G>A (p.Thr558=)
c.1686G>A (p.Thr562=)
c.1893G>A (p.Thr631=)
n.478+22104C>T
n.563+22104C>T
c.1911G>A (p.Thr637=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936809G>ACA2911031CNGA1,NIPAL1c.1673C>T (p.Thr558Met)
c.1685C>T (p.Thr562Met)
c.1892C>T (p.Thr631Met)
n.478+22105G>A
n.563+22105G>A
c.1910C>T (p.Thr637Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936809G>CCA356824506CNGA1,NIPAL1c.1673C>G (p.Thr558Arg)
c.1685C>G (p.Thr562Arg)
c.1892C>G (p.Thr631Arg)
n.478+22105G>C
n.563+22105G>C
c.1910C>G (p.Thr637Arg)
4g.47936809G=CA1455551717CNGA1,NIPAL1c.1673C= (p.Thr558=)
c.1685C= (p.Thr562=)
c.1892C= (p.Thr631=)
n.478+22105G=
n.563+22105G=
c.1910C= (p.Thr637=)
4g.47936809G>TCA356824509CNGA1,NIPAL1c.1673C>A (p.Thr558Lys)
c.1685C>A (p.Thr562Lys)
c.1892C>A (p.Thr631Lys)
n.478+22105G>T
n.563+22105G>T
c.1910C>A (p.Thr637Lys)
 COSMIC
4g.47936810T>ACA356824515CNGA1,NIPAL1c.1672A>T (p.Thr558Ser)
c.1684A>T (p.Thr562Ser)
c.1891A>T (p.Thr631Ser)
n.478+22106T>A
n.563+22106T>A
c.1909A>T (p.Thr637Ser)
4g.47936810T>CCA356824518CNGA1,NIPAL1c.1672A>G (p.Thr558Ala)
c.1684A>G (p.Thr562Ala)
c.1891A>G (p.Thr631Ala)
n.478+22106T>C
n.563+22106T>C
c.1909A>G (p.Thr637Ala)
4g.47936810T>GCA356824520CNGA1,NIPAL1c.1672A>C (p.Thr558Pro)
c.1684A>C (p.Thr562Pro)
c.1891A>C (p.Thr631Pro)
n.478+22106T>G
n.563+22106T>G
c.1909A>C (p.Thr637Pro)
 dbSNP
4g.47936810T=CA1455551718CNGA1,NIPAL1c.1672A= (p.Thr558=)
c.1684A= (p.Thr562=)
c.1891A= (p.Thr631=)
n.478+22106T=
n.563+22106T=
c.1909A= (p.Thr637=)
4g.47936811T>ACA356824525CNGA1,NIPAL1c.1671A>T (p.Arg557Ser)
c.1683A>T (p.Arg561Ser)
c.1890A>T (p.Arg630Ser)
n.478+22107T>A
n.563+22107T>A
c.1908A>T (p.Arg636Ser)
4g.47936811T>CCA439404049CNGA1,NIPAL1c.1671A>G (p.Arg557=)
c.1683A>G (p.Arg561=)
c.1890A>G (p.Arg630=)
n.478+22107T>C
n.563+22107T>C
c.1908A>G (p.Arg636=)
 gnomAD v4
4g.47936811T>GCA356824527CNGA1,NIPAL1c.1671A>C (p.Arg557Ser)
c.1683A>C (p.Arg561Ser)
c.1890A>C (p.Arg630Ser)
n.478+22107T>G
n.563+22107T>G
c.1908A>C (p.Arg636Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.47936811T=CA1455551719CNGA1,NIPAL1c.1671A= (p.Arg557=)
c.1683A= (p.Arg561=)
c.1890A= (p.Arg630=)
n.478+22107T=
n.563+22107T=
c.1908A= (p.Arg636=)
4g.47936812C>ACA356824535CNGA1,NIPAL1c.1670G>T (p.Arg557Ile)
c.1682G>T (p.Arg561Ile)
c.1889G>T (p.Arg630Ile)
n.478+22108C>A
n.563+22108C>A
c.1907G>T (p.Arg636Ile)
4g.47936812C>GCA356824533CNGA1,NIPAL1c.1670G>C (p.Arg557Thr)
c.1682G>C (p.Arg561Thr)
c.1889G>C (p.Arg630Thr)
n.478+22108C>G
n.563+22108C>G
c.1907G>C (p.Arg636Thr)
4g.47936812C>TCA356824531CNGA1,NIPAL1c.1670G>A (p.Arg557Lys)
c.1682G>A (p.Arg561Lys)
c.1889G>A (p.Arg630Lys)
n.478+22108C>T
n.563+22108C>T
c.1907G>A (p.Arg636Lys)
4g.47936813T>ACA356824540CNGA1,NIPAL1c.1669A>T (p.Arg557Ter)
c.1681A>T (p.Arg561Ter)
c.1888A>T (p.Arg630Ter)
n.478+22109T>A
n.563+22109T>A
c.1906A>T (p.Arg636Ter)
4g.47936813T>CCA356824541CNGA1,NIPAL1c.1669A>G (p.Arg557Gly)
c.1681A>G (p.Arg561Gly)
c.1888A>G (p.Arg630Gly)
n.478+22109T>C
n.563+22109T>C
c.1906A>G (p.Arg636Gly)
4g.47936813T>GCA439404051CNGA1,NIPAL1c.1669A>C (p.Arg557=)
c.1681A>C (p.Arg561=)
c.1888A>C (p.Arg630=)
n.478+22109T>G
n.563+22109T>G
c.1906A>C (p.Arg636=)
 gnomAD v4
4g.47936814T>ACA439404052CNGA1,NIPAL1c.1668A>T (p.Arg556=)
c.1680A>T (p.Arg560=)
c.1887A>T (p.Arg629=)
n.478+22110T>A
n.563+22110T>A
c.1905A>T (p.Arg635=)
4g.47936814T>CCA439404054CNGA1,NIPAL1c.1668A>G (p.Arg556=)
c.1680A>G (p.Arg560=)
c.1887A>G (p.Arg629=)
n.478+22110T>C
n.563+22110T>C
c.1905A>G (p.Arg635=)
4g.47936814T>GCA439404053CNGA1,NIPAL1c.1668A>C (p.Arg556=)
c.1680A>C (p.Arg560=)
c.1887A>C (p.Arg629=)
n.478+22110T>G
n.563+22110T>G
c.1905A>C (p.Arg635=)
4g.47936815C>ACA356824544CNGA1,NIPAL1c.1667G>T (p.Arg556Leu)
c.1679G>T (p.Arg560Leu)
c.1886G>T (p.Arg629Leu)
n.478+22111C>A
n.563+22111C>A
c.1904G>T (p.Arg635Leu)
4g.47936815C=CA1455551720CNGA1,NIPAL1c.1667G= (p.Arg556=)
c.1679G= (p.Arg560=)
c.1886G= (p.Arg629=)
n.478+22111C=
n.563+22111C=
c.1904G= (p.Arg635=)
4g.47936815C>GCA356824547CNGA1,NIPAL1c.1667G>C (p.Arg556Pro)
c.1679G>C (p.Arg560Pro)
c.1886G>C (p.Arg629Pro)
n.478+22111C>G
n.563+22111C>G
c.1904G>C (p.Arg635Pro)
4g.47936815C>TCA96688276CNGA1,NIPAL1c.1667G>A (p.Arg556Gln)
c.1679G>A (p.Arg560Gln)
c.1886G>A (p.Arg629Gln)
n.478+22111C>T
n.563+22111C>T
c.1904G>A (p.Arg635Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.47936816G>ACA2911032CNGA1,NIPAL1c.1666C>T (p.Arg556Ter)
c.1678C>T (p.Arg560Ter)
c.1885C>T (p.Arg629Ter)
n.478+22112G>A
n.563+22112G>A
c.1903C>T (p.Arg635Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47936816G>CCA356824554CNGA1,NIPAL1c.1666C>G (p.Arg556Gly)
c.1678C>G (p.Arg560Gly)
c.1885C>G (p.Arg629Gly)
n.478+22112G>C
n.563+22112G>C
c.1903C>G (p.Arg635Gly)
 gnomAD v4
4g.47936816G=CA1455551721CNGA1,NIPAL1c.1666C= (p.Arg556=)
c.1678C= (p.Arg560=)
c.1885C= (p.Arg629=)
n.478+22112G=
n.563+22112G=
c.1903C= (p.Arg635=)
4g.47936816G>TCA2911033CNGA1,NIPAL1c.1666C>A (p.Arg556=)
c.1678C>A (p.Arg560=)
c.1885C>A (p.Arg629=)
n.478+22112G>T
n.563+22112G>T
c.1903C>A (p.Arg635=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936817A>CCA356824561CNGA1,NIPAL1c.1665T>G (p.Asn555Lys)
c.1677T>G (p.Asn559Lys)
c.1884T>G (p.Asn628Lys)
n.478+22113A>C
n.563+22113A>C
c.1902T>G (p.Asn634Lys)
4g.47936817A>GCA439404058CNGA1,NIPAL1c.1665T>C (p.Asn555=)
c.1677T>C (p.Asn559=)
c.1884T>C (p.Asn628=)
n.478+22113A>G
n.563+22113A>G
c.1902T>C (p.Asn634=)
4g.47936817A>TCA356824560CNGA1,NIPAL1c.1665T>A (p.Asn555Lys)
c.1677T>A (p.Asn559Lys)
c.1884T>A (p.Asn628Lys)
n.478+22113A>T
n.563+22113A>T
c.1902T>A (p.Asn634Lys)
4g.47936818T>ACA356824565CNGA1,NIPAL1c.1664A>T (p.Asn555Ile)
c.1676A>T (p.Asn559Ile)
c.1883A>T (p.Asn628Ile)
n.478+22114T>A
n.563+22114T>A
c.1901A>T (p.Asn634Ile)
4g.47936818T>CCA2911034CNGA1,NIPAL1c.1664A>G (p.Asn555Ser)
c.1676A>G (p.Asn559Ser)
c.1883A>G (p.Asn628Ser)
n.478+22114T>C
n.563+22114T>C
c.1901A>G (p.Asn634Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936818T>GCA356824569CNGA1,NIPAL1c.1664A>C (p.Asn555Thr)
c.1676A>C (p.Asn559Thr)
c.1883A>C (p.Asn628Thr)
n.478+22114T>G
n.563+22114T>G
c.1901A>C (p.Asn634Thr)
4g.47936818T=CA1455551722CNGA1,NIPAL1c.1664A= (p.Asn555=)
c.1676A= (p.Asn559=)
c.1883A= (p.Asn628=)
n.478+22114T=
n.563+22114T=
c.1901A= (p.Asn634=)
4g.47936819T>ACA356824574CNGA1,NIPAL1c.1663A>T (p.Asn555Tyr)
c.1675A>T (p.Asn559Tyr)
c.1882A>T (p.Asn628Tyr)
n.478+22115T>A
n.563+22115T>A
c.1900A>T (p.Asn634Tyr)
4g.47936819T>CCA356824577CNGA1,NIPAL1c.1663A>G (p.Asn555Asp)
c.1675A>G (p.Asn559Asp)
c.1882A>G (p.Asn628Asp)
n.478+22115T>C
n.563+22115T>C
c.1900A>G (p.Asn634Asp)
4g.47936819T>GCA356824580CNGA1,NIPAL1c.1663A>C (p.Asn555His)
c.1675A>C (p.Asn559His)
c.1882A>C (p.Asn628His)
n.478+22115T>G
n.563+22115T>G
c.1900A>C (p.Asn634His)
4g.47936820G>ACA439404060CNGA1,NIPAL1c.1662C>T (p.Gly554=)
c.1674C>T (p.Gly558=)
c.1881C>T (p.Gly627=)
n.478+22116G>A
n.563+22116G>A
c.1899C>T (p.Gly633=)
 gnomAD v4
4g.47936820G>CCA439404061CNGA1,NIPAL1c.1662C>G (p.Gly554=)
c.1674C>G (p.Gly558=)
c.1881C>G (p.Gly627=)
n.478+22116G>C
n.563+22116G>C
c.1899C>G (p.Gly633=)
4g.47936820G>TCA439404062CNGA1,NIPAL1c.1662C>A (p.Gly554=)
c.1674C>A (p.Gly558=)
c.1881C>A (p.Gly627=)
n.478+22116G>T
n.563+22116G>T
c.1899C>A (p.Gly633=)
4g.47936821C>ACA356824585CNGA1,NIPAL1c.1661G>T (p.Gly554Val)
c.1673G>T (p.Gly558Val)
c.1880G>T (p.Gly627Val)
n.478+22117C>A
n.563+22117C>A
c.1898G>T (p.Gly633Val)
4g.47936821C=CA1455551723CNGA1,NIPAL1c.1661G= (p.Gly554=)
c.1673G= (p.Gly558=)
c.1880G= (p.Gly627=)
n.478+22117C=
n.563+22117C=
c.1898G= (p.Gly633=)
4g.47936821C>GCA356824589CNGA1,NIPAL1c.1661G>C (p.Gly554Ala)
c.1673G>C (p.Gly558Ala)
c.1880G>C (p.Gly627Ala)
n.478+22117C>G
n.563+22117C>G
c.1898G>C (p.Gly633Ala)
4g.47936821C>TCA356824587CNGA1,NIPAL1c.1661G>A (p.Gly554Asp)
c.1673G>A (p.Gly558Asp)
c.1880G>A (p.Gly627Asp)
n.478+22117C>T
n.563+22117C>T
c.1898G>A (p.Gly633Asp)
 dbSNP gnomAD v4
4g.47936822C>ACA356824594CNGA1,NIPAL1c.1660G>T (p.Gly554Cys)
c.1672G>T (p.Gly558Cys)
c.1879G>T (p.Gly627Cys)
n.478+22118C>A
n.563+22118C>A
c.1897G>T (p.Gly633Cys)
4g.47936822C>GCA356824596CNGA1,NIPAL1c.1660G>C (p.Gly554Arg)
c.1672G>C (p.Gly558Arg)
c.1879G>C (p.Gly627Arg)
n.478+22118C>G
n.563+22118C>G
c.1897G>C (p.Gly633Arg)
4g.47936822C>TCA356824598CNGA1,NIPAL1c.1660G>A (p.Gly554Ser)
c.1672G>A (p.Gly558Ser)
c.1879G>A (p.Gly627Ser)
n.478+22118C>T
n.563+22118C>T
c.1897G>A (p.Gly633Ser)
 gnomAD v4
4g.47936823A>CCA439404071CNGA1,NIPAL1c.1659T>G (p.Ala553=)
c.1671T>G (p.Ala557=)
c.1878T>G (p.Ala626=)
n.478+22119A>C
n.563+22119A>C
c.1896T>G (p.Ala632=)
4g.47936823A>GCA439404072CNGA1,NIPAL1c.1659T>C (p.Ala553=)
c.1671T>C (p.Ala557=)
c.1878T>C (p.Ala626=)
n.478+22119A>G
n.563+22119A>G
c.1896T>C (p.Ala632=)
4g.47936823A>TCA439404070CNGA1,NIPAL1c.1659T>A (p.Ala553=)
c.1671T>A (p.Ala557=)
c.1878T>A (p.Ala626=)
n.478+22119A>T
n.563+22119A>T
c.1896T>A (p.Ala632=)
4g.47936824G>ACA356824605CNGA1,NIPAL1c.1658C>T (p.Ala553Val)
c.1670C>T (p.Ala557Val)
c.1877C>T (p.Ala626Val)
n.478+22120G>A
n.563+22120G>A
c.1895C>T (p.Ala632Val)
 gnomAD v4
4g.47936824G>CCA356824607CNGA1,NIPAL1c.1658C>G (p.Ala553Gly)
c.1670C>G (p.Ala557Gly)
c.1877C>G (p.Ala626Gly)
n.478+22120G>C
n.563+22120G>C
c.1895C>G (p.Ala632Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936824G=CA1455551724CNGA1,NIPAL1c.1658C= (p.Ala553=)
c.1670C= (p.Ala557=)
c.1877C= (p.Ala626=)
n.478+22120G=
n.563+22120G=
c.1895C= (p.Ala632=)
4g.47936824G>TCA356824609CNGA1,NIPAL1c.1658C>A (p.Ala553Asp)
c.1670C>A (p.Ala557Asp)
c.1877C>A (p.Ala626Asp)
n.478+22120G>T
n.563+22120G>T
c.1895C>A (p.Ala632Asp)
4g.47936825C>ACA356824613CNGA1,NIPAL1c.1657G>T (p.Ala553Ser)
c.1669G>T (p.Ala557Ser)
c.1876G>T (p.Ala626Ser)
n.478+22121C>A
n.563+22121C>A
c.1894G>T (p.Ala632Ser)
 COSMIC COSMIC
4g.47936825C>GCA356824615CNGA1,NIPAL1c.1657G>C (p.Ala553Pro)
c.1669G>C (p.Ala557Pro)
c.1876G>C (p.Ala626Pro)
n.478+22121C>G
n.563+22121C>G
c.1894G>C (p.Ala632Pro)
4g.47936825C>TCA356824618CNGA1,NIPAL1c.1657G>A (p.Ala553Thr)
c.1669G>A (p.Ala557Thr)
c.1876G>A (p.Ala626Thr)
n.478+22121C>T
n.563+22121C>T
c.1894G>A (p.Ala632Thr)
4g.47936826T>ACA356824623CNGA1,NIPAL1c.1656A>T (p.Lys552Asn)
c.1668A>T (p.Lys556Asn)
c.1875A>T (p.Lys625Asn)
n.478+22122T>A
n.563+22122T>A
c.1893A>T (p.Lys631Asn)
4g.47936826T>CCA439404075CNGA1,NIPAL1c.1656A>G (p.Lys552=)
c.1668A>G (p.Lys556=)
c.1875A>G (p.Lys625=)
n.478+22122T>C
n.563+22122T>C
c.1893A>G (p.Lys631=)
4g.47936826T>GCA356824625CNGA1,NIPAL1c.1656A>C (p.Lys552Asn)
c.1668A>C (p.Lys556Asn)
c.1875A>C (p.Lys625Asn)
n.478+22122T>G
n.563+22122T>G
c.1893A>C (p.Lys631Asn)
 gnomAD v4
4g.47936827T>ACA356824636CNGA1,NIPAL1c.1655A>T (p.Lys552Ile)
c.1667A>T (p.Lys556Ile)
c.1874A>T (p.Lys625Ile)
n.478+22123T>A
n.563+22123T>A
c.1892A>T (p.Lys631Ile)
4g.47936827T>CCA356824633CNGA1,NIPAL1c.1655A>G (p.Lys552Arg)
c.1667A>G (p.Lys556Arg)
c.1874A>G (p.Lys625Arg)
n.478+22123T>C
n.563+22123T>C
c.1892A>G (p.Lys631Arg)
4g.47936827T>GCA356824630CNGA1,NIPAL1c.1655A>C (p.Lys552Thr)
c.1667A>C (p.Lys556Thr)
c.1874A>C (p.Lys625Thr)
n.478+22123T>G
n.563+22123T>G
c.1892A>C (p.Lys631Thr)
4g.47936828T>ACA356824640CNGA1,NIPAL1c.1654A>T (p.Lys552Ter)
c.1666A>T (p.Lys556Ter)
c.1873A>T (p.Lys625Ter)
n.478+22124T>A
n.563+22124T>A
c.1891A>T (p.Lys631Ter)
4g.47936828T>CCA356824642CNGA1,NIPAL1c.1654A>G (p.Lys552Glu)
c.1666A>G (p.Lys556Glu)
c.1873A>G (p.Lys625Glu)
n.478+22124T>C
n.563+22124T>C
c.1891A>G (p.Lys631Glu)
4g.47936828T>GCA356824644CNGA1,NIPAL1c.1654A>C (p.Lys552Gln)
c.1666A>C (p.Lys556Gln)
c.1873A>C (p.Lys625Gln)
n.478+22124T>G
n.563+22124T>G
c.1891A>C (p.Lys631Gln)
4g.47936829G>ACA439404083CNGA1,NIPAL1c.1653C>T (p.Ser551=)
c.1665C>T (p.Ser555=)
c.1872C>T (p.Ser624=)
n.478+22125G>A
n.563+22125G>A
c.1890C>T (p.Ser630=)
4g.47936829G>CCA356824648CNGA1,NIPAL1c.1653C>G (p.Ser551Arg)
c.1665C>G (p.Ser555Arg)
c.1872C>G (p.Ser624Arg)
n.478+22125G>C
n.563+22125G>C
c.1890C>G (p.Ser630Arg)
4g.47936829G>TCA356824651CNGA1,NIPAL1c.1653C>A (p.Ser551Arg)
c.1665C>A (p.Ser555Arg)
c.1872C>A (p.Ser624Arg)
n.478+22125G>T
n.563+22125G>T
c.1890C>A (p.Ser630Arg)
4g.47936830C>ACA356824661CNGA1,NIPAL1c.1652G>T (p.Ser551Ile)
c.1664G>T (p.Ser555Ile)
c.1871G>T (p.Ser624Ile)
n.478+22126C>A
n.563+22126C>A
c.1889G>T (p.Ser630Ile)
4g.47936830C=CA1455551725CNGA1,NIPAL1c.1652G= (p.Ser551=)
c.1664G= (p.Ser555=)
c.1871G= (p.Ser624=)
n.478+22126C=
n.563+22126C=
c.1889G= (p.Ser630=)
4g.47936830C>GCA2911035CNGA1,NIPAL1c.1652G>C (p.Ser551Thr)
c.1664G>C (p.Ser555Thr)
c.1871G>C (p.Ser624Thr)
n.478+22126C>G
n.563+22126C>G
c.1889G>C (p.Ser630Thr)
 dbSNP ExAC gnomAD v2
4g.47936830C>TCA356824656CNGA1,NIPAL1c.1652G>A (p.Ser551Asn)
c.1664G>A (p.Ser555Asn)
c.1871G>A (p.Ser624Asn)
n.478+22126C>T
n.563+22126C>T
c.1889G>A (p.Ser630Asn)
 gnomAD v4
4g.47936831T>ACA356824667CNGA1,NIPAL1c.1651A>T (p.Ser551Cys)
c.1663A>T (p.Ser555Cys)
c.1870A>T (p.Ser624Cys)
n.478+22127T>A
n.563+22127T>A
c.1888A>T (p.Ser630Cys)
4g.47936831T>CCA2911036CNGA1,NIPAL1c.1651A>G (p.Ser551Gly)
c.1663A>G (p.Ser555Gly)
c.1870A>G (p.Ser624Gly)
n.478+22127T>C
n.563+22127T>C
c.1888A>G (p.Ser630Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936831T>GCA356824671CNGA1,NIPAL1c.1651A>C (p.Ser551Arg)
c.1663A>C (p.Ser555Arg)
c.1870A>C (p.Ser624Arg)
n.478+22127T>G
n.563+22127T>G
c.1888A>C (p.Ser630Arg)
4g.47936831T=CA1455551726CNGA1,NIPAL1c.1651A= (p.Ser551=)
c.1663A= (p.Ser555=)
c.1870A= (p.Ser624=)
n.478+22127T=
n.563+22127T=
c.1888A= (p.Ser630=)
4g.47936832C>ACA439404086CNGA1,NIPAL1c.1650G>T (p.Gly550=)
c.1662G>T (p.Gly554=)
c.1869G>T (p.Gly623=)
n.478+22128C>A
n.563+22128C>A
c.1887G>T (p.Gly629=)
4g.47936832C>GCA439404087CNGA1,NIPAL1c.1650G>C (p.Gly550=)
c.1662G>C (p.Gly554=)
c.1869G>C (p.Gly623=)
n.478+22128C>G
n.563+22128C>G
c.1887G>C (p.Gly629=)
4g.47936832C>TCA439404088CNGA1,NIPAL1c.1650G>A (p.Gly550=)
c.1662G>A (p.Gly554=)
c.1869G>A (p.Gly623=)
n.478+22128C>T
n.563+22128C>T
c.1887G>A (p.Gly629=)
4g.47936833C>ACA356824674CNGA1,NIPAL1c.1649G>T (p.Gly550Val)
c.1661G>T (p.Gly554Val)
c.1868G>T (p.Gly623Val)
n.478+22129C>A
n.563+22129C>A
c.1886G>T (p.Gly629Val)
 dbSNP
4g.47936833C=CA1455551727CNGA1,NIPAL1c.1649G= (p.Gly550=)
c.1661G= (p.Gly554=)
c.1868G= (p.Gly623=)
n.478+22129C=
n.563+22129C=
c.1886G= (p.Gly629=)
4g.47936833C>GCA356824677CNGA1,NIPAL1c.1649G>C (p.Gly550Ala)
c.1661G>C (p.Gly554Ala)
c.1868G>C (p.Gly623Ala)
n.478+22129C>G
n.563+22129C>G
c.1886G>C (p.Gly629Ala)
4g.47936833C>TCA356824680CNGA1,NIPAL1c.1649G>A (p.Gly550Glu)
c.1661G>A (p.Gly554Glu)
c.1868G>A (p.Gly623Glu)
n.478+22129C>T
n.563+22129C>T
c.1886G>A (p.Gly629Glu)
 gnomAD v4
4g.47936834C>ACA356824684CNGA1,NIPAL1c.1648G>T (p.Gly550Trp)
c.1660G>T (p.Gly554Trp)
c.1867G>T (p.Gly623Trp)
n.478+22130C>A
n.563+22130C>A
c.1885G>T (p.Gly629Trp)
4g.47936834C=CA1455551728CNGA1,NIPAL1c.1648G= (p.Gly550=)
c.1660G= (p.Gly554=)
c.1867G= (p.Gly623=)
n.478+22130C=
n.563+22130C=
c.1885G= (p.Gly629=)
4g.47936834C>GCA356824689CNGA1,NIPAL1c.1648G>C (p.Gly550Arg)
c.1660G>C (p.Gly554Arg)
c.1867G>C (p.Gly623Arg)
n.478+22130C>G
n.563+22130C>G
c.1885G>C (p.Gly629Arg)
4g.47936834C>TCA356824686CNGA1,NIPAL1c.1648G>A (p.Gly550Arg)
c.1660G>A (p.Gly554Arg)
c.1867G>A (p.Gly623Arg)
n.478+22130C>T
n.563+22130C>T
c.1885G>A (p.Gly629Arg)
 ClinVar dbSNP gnomAD v4
4g.47936835T>ACA356824692CNGA1,NIPAL1c.1647A>T (p.Lys549Asn)
c.1659A>T (p.Lys553Asn)
c.1866A>T (p.Lys622Asn)
n.478+22131T>A
n.563+22131T>A
c.1884A>T (p.Lys628Asn)
4g.47936835T>CCA439404091CNGA1,NIPAL1c.1647A>G (p.Lys549=)
c.1659A>G (p.Lys553=)
c.1866A>G (p.Lys622=)
n.478+22131T>C
n.563+22131T>C
c.1884A>G (p.Lys628=)
4g.47936835T>GCA356824695CNGA1,NIPAL1c.1647A>C (p.Lys549Asn)
c.1659A>C (p.Lys553Asn)
c.1866A>C (p.Lys622Asn)
n.478+22131T>G
n.563+22131T>G
c.1884A>C (p.Lys628Asn)
4g.47936836T>ACA356824699CNGA1,NIPAL1c.1646A>T (p.Lys549Ile)
c.1658A>T (p.Lys553Ile)
c.1865A>T (p.Lys622Ile)
n.478+22132T>A
n.563+22132T>A
c.1883A>T (p.Lys628Ile)
4g.47936836T>CCA356824703CNGA1,NIPAL1c.1646A>G (p.Lys549Arg)
c.1658A>G (p.Lys553Arg)
c.1865A>G (p.Lys622Arg)
n.478+22132T>C
n.563+22132T>C
c.1883A>G (p.Lys628Arg)
4g.47936836T>GCA356824706CNGA1,NIPAL1c.1646A>C (p.Lys549Thr)
c.1658A>C (p.Lys553Thr)
c.1865A>C (p.Lys622Thr)
n.478+22132T>G
n.563+22132T>G
c.1883A>C (p.Lys628Thr)
4g.47936837T>ACA356824708CNGA1,NIPAL1c.1645A>T (p.Lys549Ter)
c.1657A>T (p.Lys553Ter)
c.1864A>T (p.Lys622Ter)
n.478+22133T>A
n.563+22133T>A
c.1882A>T (p.Lys628Ter)
4g.47936837T>CCA356824710CNGA1,NIPAL1c.1645A>G (p.Lys549Glu)
c.1657A>G (p.Lys553Glu)
c.1864A>G (p.Lys622Glu)
n.478+22133T>C
n.563+22133T>C
c.1882A>G (p.Lys628Glu)
4g.47936837T>GCA356824714CNGA1,NIPAL1c.1645A>C (p.Lys549Gln)
c.1657A>C (p.Lys553Gln)
c.1864A>C (p.Lys622Gln)
n.478+22133T>G
n.563+22133T>G
c.1882A>C (p.Lys628Gln)
4g.47936838A=CA1455551729CNGA1,NIPAL1c.1644T= (p.Ile548=)
c.1656T= (p.Ile552=)
c.1863T= (p.Ile621=)
n.478+22134A=
n.563+22134A=
c.1881T= (p.Ile627=)
4g.47936838A>CCA356824717CNGA1,NIPAL1c.1644T>G (p.Ile548Met)
c.1656T>G (p.Ile552Met)
c.1863T>G (p.Ile621Met)
n.478+22134A>C
n.563+22134A>C
c.1881T>G (p.Ile627Met)
 dbSNP
4g.47936838A>GCA439404094CNGA1,NIPAL1c.1644T>C (p.Ile548=)
c.1656T>C (p.Ile552=)
c.1863T>C (p.Ile621=)
n.478+22134A>G
n.563+22134A>G
c.1881T>C (p.Ile627=)
 dbSNP gnomAD v2 gnomAD v4
4g.47936838A>TCA439404095CNGA1,NIPAL1c.1644T>A (p.Ile548=)
c.1656T>A (p.Ile552=)
c.1863T>A (p.Ile621=)
n.478+22134A>T
n.563+22134A>T
c.1881T>A (p.Ile627=)
4g.47936839A=CA1455551730CNGA1,NIPAL1c.1643T= (p.Ile548=)
c.1655T= (p.Ile552=)
c.1862T= (p.Ile621=)
n.478+22135A=
n.563+22135A=
c.1880T= (p.Ile627=)
4g.47936839A>CCA96688299CNGA1,NIPAL1c.1643T>G (p.Ile548Ser)
c.1655T>G (p.Ile552Ser)
c.1862T>G (p.Ile621Ser)
n.478+22135A>C
n.563+22135A>C
c.1880T>G (p.Ile627Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.47936839A>GCA2911037CNGA1,NIPAL1c.1643T>C (p.Ile548Thr)
c.1655T>C (p.Ile552Thr)
c.1862T>C (p.Ile621Thr)
n.478+22135A>G
n.563+22135A>G
c.1880T>C (p.Ile627Thr)
 dbSNP ExAC gnomAD v2
4g.47936839A>TCA356824725CNGA1,NIPAL1c.1643T>A (p.Ile548Asn)
c.1655T>A (p.Ile552Asn)
c.1862T>A (p.Ile621Asn)
n.478+22135A>T
n.563+22135A>T
c.1880T>A (p.Ile627Asn)
4g.47936840T>ACA356824733CNGA1,NIPAL1c.1642A>T (p.Ile548Phe)
c.1654A>T (p.Ile552Phe)
c.1861A>T (p.Ile621Phe)
n.478+22136T>A
n.563+22136T>A
c.1879A>T (p.Ile627Phe)
4g.47936840T>CCA2911038CNGA1,NIPAL1c.1642A>G (p.Ile548Val)
c.1654A>G (p.Ile552Val)
c.1861A>G (p.Ile621Val)
n.478+22136T>C
n.563+22136T>C
c.1879A>G (p.Ile627Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936840T>GCA356824728CNGA1,NIPAL1c.1642A>C (p.Ile548Leu)
c.1654A>C (p.Ile552Leu)
c.1861A>C (p.Ile621Leu)
n.478+22136T>G
n.563+22136T>G
c.1879A>C (p.Ile627Leu)
4g.47936840T=CA1455551731CNGA1,NIPAL1c.1642A= (p.Ile548=)
c.1654A= (p.Ile552=)
c.1861A= (p.Ile621=)
n.478+22136T=
n.563+22136T=
c.1879A= (p.Ile627=)
4g.47936841G>ACA439404098CNGA1,NIPAL1c.1641C>T (p.Asn547=)
c.1653C>T (p.Asn551=)
c.1860C>T (p.Asn620=)
n.478+22137G>A
n.563+22137G>A
c.1878C>T (p.Asn626=)
 dbSNP
4g.47936841G>CCA356824736CNGA1,NIPAL1c.1641C>G (p.Asn547Lys)
c.1653C>G (p.Asn551Lys)
c.1860C>G (p.Asn620Lys)
n.478+22137G>C
n.563+22137G>C
c.1878C>G (p.Asn626Lys)
4g.47936841G=CA1455551732CNGA1,NIPAL1c.1641C= (p.Asn547=)
c.1653C= (p.Asn551=)
c.1860C= (p.Asn620=)
n.478+22137G=
n.563+22137G=
c.1878C= (p.Asn626=)
4g.47936841G>TCA356824740CNGA1,NIPAL1c.1641C>A (p.Asn547Lys)
c.1653C>A (p.Asn551Lys)
c.1860C>A (p.Asn620Lys)
n.478+22137G>T
n.563+22137G>T
c.1878C>A (p.Asn626Lys)
4g.47936842T>ACA356824743CNGA1,NIPAL1c.1640A>T (p.Asn547Ile)
c.1652A>T (p.Asn551Ile)
c.1859A>T (p.Asn620Ile)
n.478+22138T>A
n.563+22138T>A
c.1877A>T (p.Asn626Ile)
4g.47936842T>CCA356824744CNGA1,NIPAL1c.1640A>G (p.Asn547Ser)
c.1652A>G (p.Asn551Ser)
c.1859A>G (p.Asn620Ser)
n.478+22138T>C
n.563+22138T>C
c.1877A>G (p.Asn626Ser)
4g.47936842T>GCA356824746CNGA1,NIPAL1c.1640A>C (p.Asn547Thr)
c.1652A>C (p.Asn551Thr)
c.1859A>C (p.Asn620Thr)
n.478+22138T>G
n.563+22138T>G
c.1877A>C (p.Asn626Thr)
4g.47936843T>ACA356824755CNGA1,NIPAL1c.1639A>T (p.Asn547Tyr)
c.1651A>T (p.Asn551Tyr)
c.1858A>T (p.Asn620Tyr)
n.478+22139T>A
n.563+22139T>A
c.1876A>T (p.Asn626Tyr)
4g.47936843T>CCA356824753CNGA1,NIPAL1c.1639A>G (p.Asn547Asp)
c.1651A>G (p.Asn551Asp)
c.1858A>G (p.Asn620Asp)
n.478+22139T>C
n.563+22139T>C
c.1876A>G (p.Asn626Asp)
4g.47936843T>GCA356824750CNGA1,NIPAL1c.1639A>C (p.Asn547His)
c.1651A>C (p.Asn551His)
c.1858A>C (p.Asn620His)
n.478+22139T>G
n.563+22139T>G
c.1876A>C (p.Asn626His)
4g.47936844A>CCA439404101CNGA1,NIPAL1c.1638T>G (p.Leu546=)
c.1650T>G (p.Leu550=)
c.1857T>G (p.Leu619=)
n.478+22140A>C
n.563+22140A>C
c.1875T>G (p.Leu625=)
4g.47936844A>GCA439404103CNGA1,NIPAL1c.1638T>C (p.Leu546=)
c.1650T>C (p.Leu550=)
c.1857T>C (p.Leu619=)
n.478+22140A>G
n.563+22140A>G
c.1875T>C (p.Leu625=)
4g.47936844A>TCA439404102CNGA1,NIPAL1c.1638T>A (p.Leu546=)
c.1650T>A (p.Leu550=)
c.1857T>A (p.Leu619=)
n.478+22140A>T
n.563+22140A>T
c.1875T>A (p.Leu625=)
4g.47936845A>CCA356824760CNGA1,NIPAL1c.1637T>G (p.Leu546Arg)
c.1649T>G (p.Leu550Arg)
c.1856T>G (p.Leu619Arg)
n.478+22141A>C
n.563+22141A>C
c.1874T>G (p.Leu625Arg)
4g.47936845A>GCA356824762CNGA1,NIPAL1c.1637T>C (p.Leu546Pro)
c.1649T>C (p.Leu550Pro)
c.1856T>C (p.Leu619Pro)
n.478+22141A>G
n.563+22141A>G
c.1874T>C (p.Leu625Pro)
4g.47936845A>TCA356824765CNGA1,NIPAL1c.1637T>A (p.Leu546His)
c.1649T>A (p.Leu550His)
c.1856T>A (p.Leu619His)
n.478+22141A>T
n.563+22141A>T
c.1874T>A (p.Leu625His)
4g.47936846G>ACA356824768CNGA1,NIPAL1c.1636C>T (p.Leu546Phe)
c.1648C>T (p.Leu550Phe)
c.1855C>T (p.Leu619Phe)
n.478+22142G>A
n.563+22142G>A
c.1873C>T (p.Leu625Phe)
4g.47936846G>CCA356824771CNGA1,NIPAL1c.1636C>G (p.Leu546Val)
c.1648C>G (p.Leu550Val)
c.1855C>G (p.Leu619Val)
n.478+22142G>C
n.563+22142G>C
c.1873C>G (p.Leu625Val)
 gnomAD v4
4g.47936846G>TCA356824774CNGA1,NIPAL1c.1636C>A (p.Leu546Ile)
c.1648C>A (p.Leu550Ile)
c.1855C>A (p.Leu619Ile)
n.478+22142G>T
n.563+22142G>T
c.1873C>A (p.Leu625Ile)
4g.47936846_47936847delinsGACA1455551733CNGA1,NIPAL1c.1635_1636delinsTC (p.Ile545=)
c.1647_1648delinsTC (p.Ile549=)
c.1854_1855delinsTC (p.Ile618=)
n.478+22142_478+22143delinsGA
n.563+22142_563+22143delinsGA
c.1872_1873delinsTC (p.Ile624=)
4g.47936847A>CCA356824777CNGA1,NIPAL1c.1635T>G (p.Ile545Met)
c.1647T>G (p.Ile549Met)
c.1854T>G (p.Ile618Met)
n.478+22143A>C
n.563+22143A>C
c.1872T>G (p.Ile624Met)
4g.47936847A>GCA439404108CNGA1,NIPAL1c.1635T>C (p.Ile545=)
c.1647T>C (p.Ile549=)
c.1854T>C (p.Ile618=)
n.478+22143A>G
n.563+22143A>G
c.1872T>C (p.Ile624=)
4g.47936847A>TCA439404109CNGA1,NIPAL1c.1635T>A (p.Ile545=)
c.1647T>A (p.Ile549=)
c.1854T>A (p.Ile618=)
n.478+22143A>T
n.563+22143A>T
c.1872T>A (p.Ile624=)
4g.47936848delCA551650445CNGA1,NIPAL1c.1635del (p.Asn547ThrfsTer?)
c.1647del (p.Asn551ThrfsTer?)
c.1854del (p.Asn620ThrfsTer?)
n.478+22144del
n.563+22144del
c.1872del (p.Asn626ThrfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47936848A>CCA356824781CNGA1,NIPAL1c.1634T>G (p.Ile545Ser)
c.1646T>G (p.Ile549Ser)
c.1853T>G (p.Ile618Ser)
n.478+22144A>C
n.563+22144A>C
c.1871T>G (p.Ile624Ser)
4g.47936848A>GCA356824785CNGA1,NIPAL1c.1634T>C (p.Ile545Thr)
c.1646T>C (p.Ile549Thr)
c.1853T>C (p.Ile618Thr)
n.478+22144A>G
n.563+22144A>G
c.1871T>C (p.Ile624Thr)
4g.47936848A>TCA356824783CNGA1,NIPAL1c.1634T>A (p.Ile545Asn)
c.1646T>A (p.Ile549Asn)
c.1853T>A (p.Ile618Asn)
n.478+22144A>T
n.563+22144A>T
c.1871T>A (p.Ile624Asn)
4g.47936849T>ACA2911039CNGA1,NIPAL1c.1633A>T (p.Ile545Phe)
c.1645A>T (p.Ile549Phe)
c.1852A>T (p.Ile618Phe)
n.478+22145T>A
n.563+22145T>A
c.1870A>T (p.Ile624Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936849T>CCA356824790CNGA1,NIPAL1c.1633A>G (p.Ile545Val)
c.1645A>G (p.Ile549Val)
c.1852A>G (p.Ile618Val)
n.478+22145T>C
n.563+22145T>C
c.1870A>G (p.Ile624Val)
 dbSNP gnomAD v3 gnomAD v4
4g.47936849T>GCA356824795CNGA1,NIPAL1c.1633A>C (p.Ile545Leu)
c.1645A>C (p.Ile549Leu)
c.1852A>C (p.Ile618Leu)
n.478+22145T>G
n.563+22145T>G
c.1870A>C (p.Ile624Leu)
4g.47936849T=CA1455551734CNGA1,NIPAL1c.1633A= (p.Ile545=)
c.1645A= (p.Ile549=)
c.1852A= (p.Ile618=)
n.478+22145T=
n.563+22145T=
c.1870A= (p.Ile624=)
4g.47936850G>ACA439404116CNGA1,NIPAL1c.1632C>T (p.Ser544=)
c.1644C>T (p.Ser548=)
c.1851C>T (p.Ser617=)
n.478+22146G>A
n.563+22146G>A
c.1869C>T (p.Ser623=)
 ClinVar
4g.47936850G>CCA356824798CNGA1,NIPAL1c.1632C>G (p.Ser544Arg)
c.1644C>G (p.Ser548Arg)
c.1851C>G (p.Ser617Arg)
n.478+22146G>C
n.563+22146G>C
c.1869C>G (p.Ser623Arg)
4g.47936850G>TCA356824800CNGA1,NIPAL1c.1632C>A (p.Ser544Arg)
c.1644C>A (p.Ser548Arg)
c.1851C>A (p.Ser617Arg)
n.478+22146G>T
n.563+22146G>T
c.1869C>A (p.Ser623Arg)
4g.47936851C>ACA356824801CNGA1,NIPAL1c.1631G>T (p.Ser544Ile)
c.1643G>T (p.Ser548Ile)
c.1850G>T (p.Ser617Ile)
n.478+22147C>A
n.563+22147C>A
c.1868G>T (p.Ser623Ile)
4g.47936851C>GCA356824802CNGA1,NIPAL1c.1631G>C (p.Ser544Thr)
c.1643G>C (p.Ser548Thr)
c.1850G>C (p.Ser617Thr)
n.478+22147C>G
n.563+22147C>G
c.1868G>C (p.Ser623Thr)
4g.47936851C>TCA356824803CNGA1,NIPAL1c.1631G>A (p.Ser544Asn)
c.1643G>A (p.Ser548Asn)
c.1850G>A (p.Ser617Asn)
n.478+22147C>T
n.563+22147C>T
c.1868G>A (p.Ser623Asn)
4g.47936852T>ACA356824804CNGA1,NIPAL1c.1630A>T (p.Ser544Cys)
c.1642A>T (p.Ser548Cys)
c.1849A>T (p.Ser617Cys)
n.478+22148T>A
n.563+22148T>A
c.1867A>T (p.Ser623Cys)
4g.47936852T>CCA356824805CNGA1,NIPAL1c.1630A>G (p.Ser544Gly)
c.1642A>G (p.Ser548Gly)
c.1849A>G (p.Ser617Gly)
n.478+22148T>C
n.563+22148T>C
c.1867A>G (p.Ser623Gly)
 ClinVar dbSNP gnomAD v4
4g.47936852T>GCA356824806CNGA1,NIPAL1c.1630A>C (p.Ser544Arg)
c.1642A>C (p.Ser548Arg)
c.1849A>C (p.Ser617Arg)
n.478+22148T>G
n.563+22148T>G
c.1867A>C (p.Ser623Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47936852T=CA1455551735CNGA1,NIPAL1c.1630A= (p.Ser544=)
c.1642A= (p.Ser548=)
c.1849A= (p.Ser617=)
n.478+22148T=
n.563+22148T=
c.1867A= (p.Ser623=)
4g.47936853G>ACA96688351CNGA1,NIPAL1c.1629C>T (p.Ile543=)
c.1641C>T (p.Ile547=)
c.1848C>T (p.Ile616=)
n.478+22149G>A
n.563+22149G>A
c.1866C>T (p.Ile622=)
 dbSNP gnomAD v3 gnomAD v4
4g.47936853G>CCA356824812CNGA1,NIPAL1c.1629C>G (p.Ile543Met)
c.1641C>G (p.Ile547Met)
c.1848C>G (p.Ile616Met)
n.478+22149G>C
n.563+22149G>C
c.1866C>G (p.Ile622Met)
4g.47936853G=CA1455551736CNGA1,NIPAL1c.1629C= (p.Ile543=)
c.1641C= (p.Ile547=)
c.1848C= (p.Ile616=)
n.478+22149G=
n.563+22149G=
c.1866C= (p.Ile622=)
4g.47936853G>TCA439404121CNGA1,NIPAL1c.1629C>A (p.Ile543=)
c.1641C>A (p.Ile547=)
c.1848C>A (p.Ile616=)
n.478+22149G>T
n.563+22149G>T
c.1866C>A (p.Ile622=)
 gnomAD v4
4g.47936854A>CCA356824816CNGA1,NIPAL1c.1628T>G (p.Ile543Ser)
c.1640T>G (p.Ile547Ser)
c.1847T>G (p.Ile616Ser)
n.478+22150A>C
n.563+22150A>C
c.1865T>G (p.Ile622Ser)
4g.47936854A>GCA356824822CNGA1,NIPAL1c.1628T>C (p.Ile543Thr)
c.1640T>C (p.Ile547Thr)
c.1847T>C (p.Ile616Thr)
n.478+22150A>G
n.563+22150A>G
c.1865T>C (p.Ile622Thr)
4g.47936854A>TCA356824819CNGA1,NIPAL1c.1628T>A (p.Ile543Asn)
c.1640T>A (p.Ile547Asn)
c.1847T>A (p.Ile616Asn)
n.478+22150A>T
n.563+22150A>T
c.1865T>A (p.Ile622Asn)
4g.47936855T>ACA356824825CNGA1,NIPAL1c.1627A>T (p.Ile543Phe)
c.1639A>T (p.Ile547Phe)
c.1846A>T (p.Ile616Phe)
n.478+22151T>A
n.563+22151T>A
c.1864A>T (p.Ile622Phe)
4g.47936855T>CCA356824826CNGA1,NIPAL1c.1627A>G (p.Ile543Val)
c.1639A>G (p.Ile547Val)
c.1846A>G (p.Ile616Val)
n.478+22151T>C
n.563+22151T>C
c.1864A>G (p.Ile622Val)
4g.47936855T>GCA356824830CNGA1,NIPAL1c.1627A>C (p.Ile543Leu)
c.1639A>C (p.Ile547Leu)
c.1846A>C (p.Ile616Leu)
n.478+22151T>G
n.563+22151T>G
c.1864A>C (p.Ile622Leu)
4g.47936856C>ACA356824834CNGA1,NIPAL1c.1626G>T (p.Glu542Asp)
c.1638G>T (p.Glu546Asp)
c.1845G>T (p.Glu615Asp)
n.478+22152C>A
n.563+22152C>A
c.1863G>T (p.Glu621Asp)
4g.47936856C=CA1455551737CNGA1,NIPAL1c.1626G= (p.Glu542=)
c.1638G= (p.Glu546=)
c.1845G= (p.Glu615=)
n.478+22152C=
n.563+22152C=
c.1863G= (p.Glu621=)
4g.47936856C>GCA356824836CNGA1,NIPAL1c.1626G>C (p.Glu542Asp)
c.1638G>C (p.Glu546Asp)
c.1845G>C (p.Glu615Asp)
n.478+22152C>G
n.563+22152C>G
c.1863G>C (p.Glu621Asp)
 dbSNP gnomAD v2 gnomAD v4
4g.47936856C>TCA439404124CNGA1,NIPAL1c.1626G>A (p.Glu542=)
c.1638G>A (p.Glu546=)
c.1845G>A (p.Glu615=)
n.478+22152C>T
n.563+22152C>T
c.1863G>A (p.Glu621=)
4g.47936857T>ACA356824841CNGA1,NIPAL1c.1625A>T (p.Glu542Val)
c.1637A>T (p.Glu546Val)
c.1844A>T (p.Glu615Val)
n.478+22153T>A
n.563+22153T>A
c.1862A>T (p.Glu621Val)
4g.47936857T>CCA356824840CNGA1,NIPAL1c.1625A>G (p.Glu542Gly)
c.1637A>G (p.Glu546Gly)
c.1844A>G (p.Glu615Gly)
n.478+22153T>C
n.563+22153T>C
c.1862A>G (p.Glu621Gly)
4g.47936857T>GCA356824839CNGA1,NIPAL1c.1625A>C (p.Glu542Ala)
c.1637A>C (p.Glu546Ala)
c.1844A>C (p.Glu615Ala)
n.478+22153T>G
n.563+22153T>G
c.1862A>C (p.Glu621Ala)
4g.47936858C>ACA356824844CNGA1,NIPAL1c.1624G>T (p.Glu542Ter)
c.1636G>T (p.Glu546Ter)
c.1843G>T (p.Glu615Ter)
n.478+22154C>A
n.563+22154C>A
c.1861G>T (p.Glu621Ter)
4g.47936858C=CA1455551738CNGA1,NIPAL1c.1624G= (p.Glu542=)
c.1636G= (p.Glu546=)
c.1843G= (p.Glu615=)
n.478+22154C=
n.563+22154C=
c.1861G= (p.Glu621=)
4g.47936858C>GCA356824847CNGA1,NIPAL1c.1624G>C (p.Glu542Gln)
c.1636G>C (p.Glu546Gln)
c.1843G>C (p.Glu615Gln)
n.478+22154C>G
n.563+22154C>G
c.1861G>C (p.Glu621Gln)
4g.47936858C>TCA356824849CNGA1,NIPAL1c.1624G>A (p.Glu542Lys)
c.1636G>A (p.Glu546Lys)
c.1843G>A (p.Glu615Lys)
n.478+22154C>T
n.563+22154C>T
c.1861G>A (p.Glu621Lys)
 dbSNP gnomAD v4
4g.47936859A>CCA439404130CNGA1,NIPAL1c.1623T>G (p.Gly541=)
c.1635T>G (p.Gly545=)
c.1842T>G (p.Gly614=)
n.478+22155A>C
n.563+22155A>C
c.1860T>G (p.Gly620=)
4g.47936859A>GCA439404128CNGA1,NIPAL1c.1623T>C (p.Gly541=)
c.1635T>C (p.Gly545=)
c.1842T>C (p.Gly614=)
n.478+22155A>G
n.563+22155A>G
c.1860T>C (p.Gly620=)
4g.47936859A>TCA439404127CNGA1,NIPAL1c.1623T>A (p.Gly541=)
c.1635T>A (p.Gly545=)
c.1842T>A (p.Gly614=)
n.478+22155A>T
n.563+22155A>T
c.1860T>A (p.Gly620=)
4g.47936860C>ACA356824853CNGA1,NIPAL1c.1622G>T (p.Gly541Val)
c.1634G>T (p.Gly545Val)
c.1841G>T (p.Gly614Val)
n.478+22156C>A
n.563+22156C>A
c.1859G>T (p.Gly620Val)
4g.47936860C=CA1455551739CNGA1,NIPAL1c.1622G= (p.Gly541=)
c.1634G= (p.Gly545=)
c.1841G= (p.Gly614=)
n.478+22156C=
n.563+22156C=
c.1859G= (p.Gly620=)
4g.47936860C>GCA356824855CNGA1,NIPAL1c.1622G>C (p.Gly541Ala)
c.1634G>C (p.Gly545Ala)
c.1841G>C (p.Gly614Ala)
n.478+22156C>G
n.563+22156C>G
c.1859G>C (p.Gly620Ala)
4g.47936860C>TCA2911040CNGA1,NIPAL1c.1622G>A (p.Gly541Asp)
c.1634G>A (p.Gly545Asp)
c.1841G>A (p.Gly614Asp)
n.478+22156C>T
n.563+22156C>T
c.1859G>A (p.Gly620Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936861C>ACA356824860CNGA1,NIPAL1c.1621G>T (p.Gly541Cys)
c.1633G>T (p.Gly545Cys)
c.1840G>T (p.Gly614Cys)
n.478+22157C>A
n.563+22157C>A
c.1858G>T (p.Gly620Cys)
4g.47936861C=CA1455551740CNGA1,NIPAL1c.1621G= (p.Gly541=)
c.1633G= (p.Gly545=)
c.1840G= (p.Gly614=)
n.478+22157C=
n.563+22157C=
c.1858G= (p.Gly620=)
4g.47936861C>GCA356824865CNGA1,NIPAL1c.1621G>C (p.Gly541Arg)
c.1633G>C (p.Gly545Arg)
c.1840G>C (p.Gly614Arg)
n.478+22157C>G
n.563+22157C>G
c.1858G>C (p.Gly620Arg)
4g.47936861C>TCA270046CNGA1,NIPAL1c.1621G>A (p.Gly541Ser)
c.1633G>A (p.Gly545Ser)
c.1840G>A (p.Gly614Ser)
n.478+22157C>T
n.563+22157C>T
c.1858G>A (p.Gly620Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.47936862G>ACA2911041CNGA1,NIPAL1c.1620C>T (p.Phe540=)
c.1632C>T (p.Phe544=)
c.1839C>T (p.Phe613=)
n.478+22158G>A
n.563+22158G>A
c.1857C>T (p.Phe619=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936862G>CCA356824866CNGA1,NIPAL1c.1620C>G (p.Phe540Leu)
c.1632C>G (p.Phe544Leu)
c.1839C>G (p.Phe613Leu)
n.478+22158G>C
n.563+22158G>C
c.1857C>G (p.Phe619Leu)
4g.47936862G=CA1455551741CNGA1,NIPAL1c.1620C= (p.Phe540=)
c.1632C= (p.Phe544=)
c.1839C= (p.Phe613=)
n.478+22158G=
n.563+22158G=
c.1857C= (p.Phe619=)
4g.47936862G>TCA356824867CNGA1,NIPAL1c.1620C>A (p.Phe540Leu)
c.1632C>A (p.Phe544Leu)
c.1839C>A (p.Phe613Leu)
n.478+22158G>T
n.563+22158G>T
c.1857C>A (p.Phe619Leu)

Number of alleles fetched