Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.47936969delCA795526791CNGA1,NIPAL1c.1515del (p.Asp507IlefsTer28)
c.1527del (p.Asp511IlefsTer28)
c.1734del (p.Asp580IlefsTer28)
n.479-22055del
n.563+22265del
c.1752del (p.Asp586IlefsTer28)
 dbSNP gnomAD v4
4g.47936969T>ACA356825412CNGA1,NIPAL1c.1513A>T (p.Lys505Ter)
c.1525A>T (p.Lys509Ter)
c.1732A>T (p.Lys578Ter)
n.479-22055T>A
n.563+22265T>A
c.1750A>T (p.Lys584Ter)
4g.47936969T>CCA356825414CNGA1,NIPAL1c.1513A>G (p.Lys505Glu)
c.1525A>G (p.Lys509Glu)
c.1732A>G (p.Lys578Glu)
n.479-22055T>C
n.563+22265T>C
c.1750A>G (p.Lys584Glu)
4g.47936969T>GCA356825416CNGA1,NIPAL1c.1513A>C (p.Lys505Gln)
c.1525A>C (p.Lys509Gln)
c.1732A>C (p.Lys578Gln)
n.479-22055T>G
n.563+22265T>G
c.1750A>C (p.Lys584Gln)
 dbSNP gnomAD v2 gnomAD v4
4g.47936969T=CA1455551789CNGA1,NIPAL1c.1513A= (p.Lys505=)
c.1525A= (p.Lys509=)
c.1732A= (p.Lys578=)
n.479-22055T=
n.563+22265T=
c.1750A= (p.Lys584=)
4g.47936970C>ACA356825418CNGA1,NIPAL1c.1512G>T (p.Lys504Asn)
c.1524G>T (p.Lys508Asn)
c.1731G>T (p.Lys577Asn)
n.479-22054C>A
n.563+22266C>A
c.1749G>T (p.Lys583Asn)
4g.47936970C>GCA356825420CNGA1,NIPAL1c.1512G>C (p.Lys504Asn)
c.1524G>C (p.Lys508Asn)
c.1731G>C (p.Lys577Asn)
n.479-22054C>G
n.563+22266C>G
c.1749G>C (p.Lys583Asn)
4g.47936970C>TCA439403861CNGA1,NIPAL1c.1512G>A (p.Lys504=)
c.1524G>A (p.Lys508=)
c.1731G>A (p.Lys577=)
n.479-22054C>T
n.563+22266C>T
c.1749G>A (p.Lys583=)
4g.47936971T>ACA356825422CNGA1,NIPAL1c.1511A>T (p.Lys504Met)
c.1523A>T (p.Lys508Met)
c.1730A>T (p.Lys577Met)
n.479-22053T>A
n.563+22267T>A
c.1748A>T (p.Lys583Met)
4g.47936971T>CCA2911064CNGA1,NIPAL1c.1511A>G (p.Lys504Arg)
c.1523A>G (p.Lys508Arg)
c.1730A>G (p.Lys577Arg)
n.479-22053T>C
n.563+22267T>C
c.1748A>G (p.Lys583Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936971T>GCA356825425CNGA1,NIPAL1c.1511A>C (p.Lys504Thr)
c.1523A>C (p.Lys508Thr)
c.1730A>C (p.Lys577Thr)
n.479-22053T>G
n.563+22267T>G
c.1748A>C (p.Lys583Thr)
4g.47936971T=CA1455551790CNGA1,NIPAL1c.1511A= (p.Lys504=)
c.1523A= (p.Lys508=)
c.1730A= (p.Lys577=)
n.479-22053T=
n.563+22267T=
c.1748A= (p.Lys583=)
4g.47936972T>ACA356825429CNGA1,NIPAL1c.1510A>T (p.Lys504Ter)
c.1522A>T (p.Lys508Ter)
c.1729A>T (p.Lys577Ter)
n.479-22052T>A
n.563+22268T>A
c.1747A>T (p.Lys583Ter)
4g.47936972T>CCA356825431CNGA1,NIPAL1c.1510A>G (p.Lys504Glu)
c.1522A>G (p.Lys508Glu)
c.1729A>G (p.Lys577Glu)
n.479-22052T>C
n.563+22268T>C
c.1747A>G (p.Lys583Glu)
4g.47936972T>GCA356825427CNGA1,NIPAL1c.1510A>C (p.Lys504Gln)
c.1522A>C (p.Lys508Gln)
c.1729A>C (p.Lys577Gln)
n.479-22052T>G
n.563+22268T>G
c.1747A>C (p.Lys583Gln)
4g.47936973G>ACA439403863CNGA1,NIPAL1c.1509C>T (p.Cys503=)
c.1521C>T (p.Cys507=)
c.1728C>T (p.Cys576=)
n.479-22051G>A
n.563+22269G>A
c.1746C>T (p.Cys582=)
 dbSNP
4g.47936973G>CCA356825433CNGA1,NIPAL1c.1509C>G (p.Cys503Trp)
c.1521C>G (p.Cys507Trp)
c.1728C>G (p.Cys576Trp)
n.479-22051G>C
n.563+22269G>C
c.1746C>G (p.Cys582Trp)
4g.47936973G>TCA356825435CNGA1,NIPAL1c.1509C>A (p.Cys503Ter)
c.1521C>A (p.Cys507Ter)
c.1728C>A (p.Cys576Ter)
n.479-22051G>T
n.563+22269G>T
c.1746C>A (p.Cys582Ter)
4g.47936974C>ACA356825437CNGA1,NIPAL1c.1508G>T (p.Cys503Phe)
c.1520G>T (p.Cys507Phe)
c.1727G>T (p.Cys576Phe)
n.479-22050C>A
n.563+22270C>A
c.1745G>T (p.Cys582Phe)
4g.47936974C>GCA356825439CNGA1,NIPAL1c.1508G>C (p.Cys503Ser)
c.1520G>C (p.Cys507Ser)
c.1727G>C (p.Cys576Ser)
n.479-22050C>G
n.563+22270C>G
c.1745G>C (p.Cys582Ser)
4g.47936974C>TCA356825441CNGA1,NIPAL1c.1508G>A (p.Cys503Tyr)
c.1520G>A (p.Cys507Tyr)
c.1727G>A (p.Cys576Tyr)
n.479-22050C>T
n.563+22270C>T
c.1745G>A (p.Cys582Tyr)
4g.47936975A>CCA356825443CNGA1,NIPAL1c.1507T>G (p.Cys503Gly)
c.1519T>G (p.Cys507Gly)
c.1726T>G (p.Cys576Gly)
n.479-22049A>C
n.563+22271A>C
c.1744T>G (p.Cys582Gly)
4g.47936975A>GCA356825444CNGA1,NIPAL1c.1507T>C (p.Cys503Arg)
c.1519T>C (p.Cys507Arg)
c.1726T>C (p.Cys576Arg)
n.479-22049A>G
n.563+22271A>G
c.1744T>C (p.Cys582Arg)
4g.47936975A>TCA356825446CNGA1,NIPAL1c.1507T>A (p.Cys503Ser)
c.1519T>A (p.Cys507Ser)
c.1726T>A (p.Cys576Ser)
n.479-22049A>T
n.563+22271A>T
c.1744T>A (p.Cys582Ser)
4g.47936976A=CA1455551791CNGA1,NIPAL1c.1506T= (p.Ile502=)
c.1518T= (p.Ile506=)
c.1725T= (p.Ile575=)
n.479-22048A=
n.563+22272A=
c.1743T= (p.Ile581=)
4g.47936976A>CCA356825449CNGA1,NIPAL1c.1506T>G (p.Ile502Met)
c.1518T>G (p.Ile506Met)
c.1725T>G (p.Ile575Met)
n.479-22048A>C
n.563+22272A>C
c.1743T>G (p.Ile581Met)
 dbSNP gnomAD v2 gnomAD v4
4g.47936976A>GCA439403867CNGA1,NIPAL1c.1506T>C (p.Ile502=)
c.1518T>C (p.Ile506=)
c.1725T>C (p.Ile575=)
n.479-22048A>G
n.563+22272A>G
c.1743T>C (p.Ile581=)
4g.47936976A>TCA439403868CNGA1,NIPAL1c.1506T>A (p.Ile502=)
c.1518T>A (p.Ile506=)
c.1725T>A (p.Ile575=)
n.479-22048A>T
n.563+22272A>T
c.1743T>A (p.Ile581=)
 dbSNP gnomAD v3 gnomAD v4
4g.47936977A>CCA356825451CNGA1,NIPAL1c.1505T>G (p.Ile502Ser)
c.1517T>G (p.Ile506Ser)
c.1724T>G (p.Ile575Ser)
n.479-22047A>C
n.563+22273A>C
c.1742T>G (p.Ile581Ser)
4g.47936977A>GCA356825453CNGA1,NIPAL1c.1505T>C (p.Ile502Thr)
c.1517T>C (p.Ile506Thr)
c.1724T>C (p.Ile575Thr)
n.479-22047A>G
n.563+22273A>G
c.1742T>C (p.Ile581Thr)
4g.47936977A>TCA356825455CNGA1,NIPAL1c.1505T>A (p.Ile502Asn)
c.1517T>A (p.Ile506Asn)
c.1724T>A (p.Ile575Asn)
n.479-22047A>T
n.563+22273A>T
c.1742T>A (p.Ile581Asn)
4g.47936978T>ACA356825458CNGA1,NIPAL1c.1504A>T (p.Ile502Phe)
c.1516A>T (p.Ile506Phe)
c.1723A>T (p.Ile575Phe)
n.479-22046T>A
n.563+22274T>A
c.1741A>T (p.Ile581Phe)
 COSMIC
4g.47936978T>CCA356825459CNGA1,NIPAL1c.1504A>G (p.Ile502Val)
c.1516A>G (p.Ile506Val)
c.1723A>G (p.Ile575Val)
n.479-22046T>C
n.563+22274T>C
c.1741A>G (p.Ile581Val)
4g.47936978T>GCA356825461CNGA1,NIPAL1c.1504A>C (p.Ile502Leu)
c.1516A>C (p.Ile506Leu)
c.1723A>C (p.Ile575Leu)
n.479-22046T>G
n.563+22274T>G
c.1741A>C (p.Ile581Leu)
4g.47936979A>CCA356825464CNGA1,NIPAL1c.1503T>G (p.Tyr501Ter)
c.1515T>G (p.Tyr505Ter)
c.1722T>G (p.Tyr574Ter)
n.479-22045A>C
n.563+22275A>C
c.1740T>G (p.Tyr580Ter)
4g.47936979A>GCA439403872CNGA1,NIPAL1c.1503T>C (p.Tyr501=)
c.1515T>C (p.Tyr505=)
c.1722T>C (p.Tyr574=)
n.479-22045A>G
n.563+22275A>G
c.1740T>C (p.Tyr580=)
4g.47936979A>TCA356825465CNGA1,NIPAL1c.1503T>A (p.Tyr501Ter)
c.1515T>A (p.Tyr505Ter)
c.1722T>A (p.Tyr574Ter)
n.479-22045A>T
n.563+22275A>T
c.1740T>A (p.Tyr580Ter)
4g.47936980T>ACA356825469CNGA1,NIPAL1c.1502A>T (p.Tyr501Phe)
c.1514A>T (p.Tyr505Phe)
c.1721A>T (p.Tyr574Phe)
n.479-22044T>A
n.563+22276T>A
c.1739A>T (p.Tyr580Phe)
4g.47936980T>CCA356825470CNGA1,NIPAL1c.1502A>G (p.Tyr501Cys)
c.1514A>G (p.Tyr505Cys)
c.1721A>G (p.Tyr574Cys)
n.479-22044T>C
n.563+22276T>C
c.1739A>G (p.Tyr580Cys)
 gnomAD v4
4g.47936980T>GCA356825471CNGA1,NIPAL1c.1502A>C (p.Tyr501Ser)
c.1514A>C (p.Tyr505Ser)
c.1721A>C (p.Tyr574Ser)
n.479-22044T>G
n.563+22276T>G
c.1739A>C (p.Tyr580Ser)
4g.47936981A>CCA356825474CNGA1,NIPAL1c.1501T>G (p.Tyr501Asp)
c.1513T>G (p.Tyr505Asp)
c.1720T>G (p.Tyr574Asp)
n.479-22043A>C
n.563+22277A>C
c.1738T>G (p.Tyr580Asp)
4g.47936981A>GCA356825475CNGA1,NIPAL1c.1501T>C (p.Tyr501His)
c.1513T>C (p.Tyr505His)
c.1720T>C (p.Tyr574His)
n.479-22043A>G
n.563+22277A>G
c.1738T>C (p.Tyr580His)
 gnomAD v4
4g.47936981A>TCA356825477CNGA1,NIPAL1c.1501T>A (p.Tyr501Asn)
c.1513T>A (p.Tyr505Asn)
c.1720T>A (p.Tyr574Asn)
n.479-22043A>T
n.563+22277A>T
c.1738T>A (p.Tyr580Asn)
4g.47936982A>CCA356825480CNGA1,NIPAL1c.1500T>G (p.Asp500Glu)
c.1512T>G (p.Asp504Glu)
c.1719T>G (p.Asp573Glu)
n.479-22042A>C
n.563+22278A>C
c.1737T>G (p.Asp579Glu)
4g.47936982A>GCA439403874CNGA1,NIPAL1c.1500T>C (p.Asp500=)
c.1512T>C (p.Asp504=)
c.1719T>C (p.Asp573=)
n.479-22042A>G
n.563+22278A>G
c.1737T>C (p.Asp579=)
 gnomAD v4
4g.47936982A>TCA356825481CNGA1,NIPAL1c.1500T>A (p.Asp500Glu)
c.1512T>A (p.Asp504Glu)
c.1719T>A (p.Asp573Glu)
n.479-22042A>T
n.563+22278A>T
c.1737T>A (p.Asp579Glu)
4g.47936983T>ACA356825484CNGA1,NIPAL1c.1499A>T (p.Asp500Val)
c.1511A>T (p.Asp504Val)
c.1718A>T (p.Asp573Val)
n.479-22041T>A
n.563+22279T>A
c.1736A>T (p.Asp579Val)
4g.47936983T>CCA2911065CNGA1,NIPAL1c.1499A>G (p.Asp500Gly)
c.1511A>G (p.Asp504Gly)
c.1718A>G (p.Asp573Gly)
n.479-22041T>C
n.563+22279T>C
c.1736A>G (p.Asp579Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936983T>GCA356825486CNGA1,NIPAL1c.1499A>C (p.Asp500Ala)
c.1511A>C (p.Asp504Ala)
c.1718A>C (p.Asp573Ala)
n.479-22041T>G
n.563+22279T>G
c.1736A>C (p.Asp579Ala)
4g.47936983T=CA1455551792CNGA1,NIPAL1c.1499A= (p.Asp500=)
c.1511A= (p.Asp504=)
c.1718A= (p.Asp573=)
n.479-22041T=
n.563+22279T=
c.1736A= (p.Asp579=)
4g.47936984C>ACA356825491CNGA1,NIPAL1c.1498G>T (p.Asp500Tyr)
c.1510G>T (p.Asp504Tyr)
c.1717G>T (p.Asp573Tyr)
n.479-22040C>A
n.563+22280C>A
c.1735G>T (p.Asp579Tyr)
4g.47936984C>GCA356825493CNGA1,NIPAL1c.1498G>C (p.Asp500His)
c.1510G>C (p.Asp504His)
c.1717G>C (p.Asp573His)
n.479-22040C>G
n.563+22280C>G
c.1735G>C (p.Asp579His)
4g.47936984C>TCA356825489CNGA1,NIPAL1c.1498G>A (p.Asp500Asn)
c.1510G>A (p.Asp504Asn)
c.1717G>A (p.Asp573Asn)
n.479-22040C>T
n.563+22280C>T
c.1735G>A (p.Asp579Asn)
4g.47936985T>ACA439403879CNGA1,NIPAL1c.1497A>T (p.Gly499=)
c.1509A>T (p.Gly503=)
c.1716A>T (p.Gly572=)
n.479-22039T>A
n.563+22281T>A
c.1734A>T (p.Gly578=)
4g.47936985T>CCA439403880CNGA1,NIPAL1c.1497A>G (p.Gly499=)
c.1509A>G (p.Gly503=)
c.1716A>G (p.Gly572=)
n.479-22039T>C
n.563+22281T>C
c.1734A>G (p.Gly578=)
4g.47936985T>GCA439403882CNGA1,NIPAL1c.1497A>C (p.Gly499=)
c.1509A>C (p.Gly503=)
c.1716A>C (p.Gly572=)
n.479-22039T>G
n.563+22281T>G
c.1734A>C (p.Gly578=)
4g.47936986C>ACA356825495CNGA1,NIPAL1c.1496G>T (p.Gly499Val)
c.1508G>T (p.Gly503Val)
c.1715G>T (p.Gly572Val)
n.479-22038C>A
n.563+22282C>A
c.1733G>T (p.Gly578Val)
4g.47936986C=CA1455551793CNGA1,NIPAL1c.1496G= (p.Gly499=)
c.1508G= (p.Gly503=)
c.1715G= (p.Gly572=)
n.479-22038C=
n.563+22282C=
c.1733G= (p.Gly578=)
4g.47936986C>GCA2911066CNGA1,NIPAL1c.1496G>C (p.Gly499Ala)
c.1508G>C (p.Gly503Ala)
c.1715G>C (p.Gly572Ala)
n.479-22038C>G
n.563+22282C>G
c.1733G>C (p.Gly578Ala)
 dbSNP ExAC gnomAD v2
4g.47936986C>TCA356825498CNGA1,NIPAL1c.1496G>A (p.Gly499Glu)
c.1508G>A (p.Gly503Glu)
c.1715G>A (p.Gly572Glu)
n.479-22038C>T
n.563+22282C>T
c.1733G>A (p.Gly578Glu)
 gnomAD v4
4g.47936987C>ACA356825500CNGA1,NIPAL1c.1495G>T (p.Gly499Ter)
c.1507G>T (p.Gly503Ter)
c.1714G>T (p.Gly572Ter)
n.479-22037C>A
n.563+22283C>A
c.1732G>T (p.Gly578Ter)
4g.47936987C=CA1455551794CNGA1,NIPAL1c.1495G= (p.Gly499=)
c.1507G= (p.Gly503=)
c.1714G= (p.Gly572=)
n.479-22037C=
n.563+22283C=
c.1732G= (p.Gly578=)
4g.47936987C>GCA356825502CNGA1,NIPAL1c.1495G>C (p.Gly499Arg)
c.1507G>C (p.Gly503Arg)
c.1714G>C (p.Gly572Arg)
n.479-22037C>G
n.563+22283C>G
c.1732G>C (p.Gly578Arg)
 dbSNP
4g.47936987C>TCA356825504CNGA1,NIPAL1c.1495G>A (p.Gly499Arg)
c.1507G>A (p.Gly503Arg)
c.1714G>A (p.Gly572Arg)
n.479-22037C>T
n.563+22283C>T
c.1732G>A (p.Gly578Arg)
4g.47936988A>CCA439403885CNGA1,NIPAL1c.1494T>G (p.Pro498=)
c.1506T>G (p.Pro502=)
c.1713T>G (p.Pro571=)
n.479-22036A>C
n.563+22284A>C
c.1731T>G (p.Pro577=)
4g.47936988A>GCA439403888CNGA1,NIPAL1c.1494T>C (p.Pro498=)
c.1506T>C (p.Pro502=)
c.1713T>C (p.Pro571=)
n.479-22036A>G
n.563+22284A>G
c.1731T>C (p.Pro577=)
 gnomAD v4
4g.47936988A>TCA439403890CNGA1,NIPAL1c.1494T>A (p.Pro498=)
c.1506T>A (p.Pro502=)
c.1713T>A (p.Pro571=)
n.479-22036A>T
n.563+22284A>T
c.1731T>A (p.Pro577=)
4g.47936989G>ACA356825510CNGA1,NIPAL1c.1493C>T (p.Pro498Leu)
c.1505C>T (p.Pro502Leu)
c.1712C>T (p.Pro571Leu)
n.479-22035G>A
n.563+22285G>A
c.1730C>T (p.Pro577Leu)
4g.47936989G>CCA356825506CNGA1,NIPAL1c.1493C>G (p.Pro498Arg)
c.1505C>G (p.Pro502Arg)
c.1712C>G (p.Pro571Arg)
n.479-22035G>C
n.563+22285G>C
c.1730C>G (p.Pro577Arg)
4g.47936989G>TCA356825508CNGA1,NIPAL1c.1493C>A (p.Pro498His)
c.1505C>A (p.Pro502His)
c.1712C>A (p.Pro571His)
n.479-22035G>T
n.563+22285G>T
c.1730C>A (p.Pro577His)
4g.47936990G>ACA356825512CNGA1,NIPAL1c.1492C>T (p.Pro498Ser)
c.1504C>T (p.Pro502Ser)
c.1711C>T (p.Pro571Ser)
n.479-22034G>A
n.563+22286G>A
c.1729C>T (p.Pro577Ser)
4g.47936990G>CCA356825515CNGA1,NIPAL1c.1492C>G (p.Pro498Ala)
c.1504C>G (p.Pro502Ala)
c.1711C>G (p.Pro571Ala)
n.479-22034G>C
n.563+22286G>C
c.1729C>G (p.Pro577Ala)
4g.47936990G>TCA356825517CNGA1,NIPAL1c.1492C>A (p.Pro498Thr)
c.1504C>A (p.Pro502Thr)
c.1711C>A (p.Pro571Thr)
n.479-22034G>T
n.563+22286G>T
c.1729C>A (p.Pro577Thr)
4g.47936991A>CCA356825518CNGA1,NIPAL1c.1491T>G (p.Ser497Arg)
c.1503T>G (p.Ser501Arg)
c.1710T>G (p.Ser570Arg)
n.479-22033A>C
n.563+22287A>C
c.1728T>G (p.Ser576Arg)
4g.47936991A>GCA439403896CNGA1,NIPAL1c.1491T>C (p.Ser497=)
c.1503T>C (p.Ser501=)
c.1710T>C (p.Ser570=)
n.479-22033A>G
n.563+22287A>G
c.1728T>C (p.Ser576=)
4g.47936991A>TCA356825520CNGA1,NIPAL1c.1491T>A (p.Ser497Arg)
c.1503T>A (p.Ser501Arg)
c.1710T>A (p.Ser570Arg)
n.479-22033A>T
n.563+22287A>T
c.1728T>A (p.Ser576Arg)
4g.47936992C>ACA356825522CNGA1,NIPAL1c.1490G>T (p.Ser497Ile)
c.1502G>T (p.Ser501Ile)
c.1709G>T (p.Ser570Ile)
n.479-22032C>A
n.563+22288C>A
c.1727G>T (p.Ser576Ile)
4g.47936992C>GCA356825526CNGA1,NIPAL1c.1490G>C (p.Ser497Thr)
c.1502G>C (p.Ser501Thr)
c.1709G>C (p.Ser570Thr)
n.479-22032C>G
n.563+22288C>G
c.1727G>C (p.Ser576Thr)
4g.47936992C>TCA356825524CNGA1,NIPAL1c.1490G>A (p.Ser497Asn)
c.1502G>A (p.Ser501Asn)
c.1709G>A (p.Ser570Asn)
n.479-22032C>T
n.563+22288C>T
c.1727G>A (p.Ser576Asn)
4g.47936993delCA2670552348CNGA1,NIPAL1c.1489del (p.Ser497ValfsTer?)
c.1501del (p.Ser501ValfsTer?)
c.1708del (p.Ser570ValfsTer?)
n.479-22031del
n.563+22289del
c.1726del (p.Ser576ValfsTer?)
 gnomAD v4
4g.47936993T>ACA356825528CNGA1,NIPAL1c.1489A>T (p.Ser497Cys)
c.1501A>T (p.Ser501Cys)
c.1708A>T (p.Ser570Cys)
n.479-22031T>A
n.563+22289T>A
c.1726A>T (p.Ser576Cys)
4g.47936993T>CCA356825530CNGA1,NIPAL1c.1489A>G (p.Ser497Gly)
c.1501A>G (p.Ser501Gly)
c.1708A>G (p.Ser570Gly)
n.479-22031T>C
n.563+22289T>C
c.1726A>G (p.Ser576Gly)
4g.47936993T>GCA356825532CNGA1,NIPAL1c.1489A>C (p.Ser497Arg)
c.1501A>C (p.Ser501Arg)
c.1708A>C (p.Ser570Arg)
n.479-22031T>G
n.563+22289T>G
c.1726A>C (p.Ser576Arg)
4g.47936994G>ACA2911067CNGA1,NIPAL1c.1488C>T (p.Tyr496=)
c.1500C>T (p.Tyr500=)
c.1707C>T (p.Tyr569=)
n.479-22030G>A
n.563+22290G>A
c.1725C>T (p.Tyr575=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936994G>CCA356825534CNGA1,NIPAL1c.1488C>G (p.Tyr496Ter)
c.1500C>G (p.Tyr500Ter)
c.1707C>G (p.Tyr569Ter)
n.479-22030G>C
n.563+22290G>C
c.1725C>G (p.Tyr575Ter)
4g.47936994G=CA1455551795CNGA1,NIPAL1c.1488C= (p.Tyr496=)
c.1500C= (p.Tyr500=)
c.1707C= (p.Tyr569=)
n.479-22030G=
n.563+22290G=
c.1725C= (p.Tyr575=)
4g.47936994G>TCA356825535CNGA1,NIPAL1c.1488C>A (p.Tyr496Ter)
c.1500C>A (p.Tyr500Ter)
c.1707C>A (p.Tyr569Ter)
n.479-22030G>T
n.563+22290G>T
c.1725C>A (p.Tyr575Ter)
4g.47936995T>ACA356825538CNGA1,NIPAL1c.1487A>T (p.Tyr496Phe)
c.1499A>T (p.Tyr500Phe)
c.1706A>T (p.Tyr569Phe)
n.479-22029T>A
n.563+22291T>A
c.1724A>T (p.Tyr575Phe)
4g.47936995T>CCA356825540CNGA1,NIPAL1c.1487A>G (p.Tyr496Cys)
c.1499A>G (p.Tyr500Cys)
c.1706A>G (p.Tyr569Cys)
n.479-22029T>C
n.563+22291T>C
c.1724A>G (p.Tyr575Cys)
 dbSNP gnomAD v3 gnomAD v4
4g.47936995T>GCA356825541CNGA1,NIPAL1c.1487A>C (p.Tyr496Ser)
c.1499A>C (p.Tyr500Ser)
c.1706A>C (p.Tyr569Ser)
n.479-22029T>G
n.563+22291T>G
c.1724A>C (p.Tyr575Ser)
4g.47936995T=CA1455551796CNGA1,NIPAL1c.1487A= (p.Tyr496=)
c.1499A= (p.Tyr500=)
c.1706A= (p.Tyr569=)
n.479-22029T=
n.563+22291T=
c.1724A= (p.Tyr575=)
4g.47936996A>CCA356825544CNGA1,NIPAL1c.1486T>G (p.Tyr496Asp)
c.1498T>G (p.Tyr500Asp)
c.1705T>G (p.Tyr569Asp)
n.479-22028A>C
n.563+22292A>C
c.1723T>G (p.Tyr575Asp)
4g.47936996A>GCA356825546CNGA1,NIPAL1c.1486T>C (p.Tyr496His)
c.1498T>C (p.Tyr500His)
c.1705T>C (p.Tyr569His)
n.479-22028A>G
n.563+22292A>G
c.1723T>C (p.Tyr575His)
4g.47936996A>TCA356825547CNGA1,NIPAL1c.1486T>A (p.Tyr496Asn)
c.1498T>A (p.Tyr500Asn)
c.1705T>A (p.Tyr569Asn)
n.479-22028A>T
n.563+22292A>T
c.1723T>A (p.Tyr575Asn)
4g.47936997G>ACA439403905CNGA1,NIPAL1c.1485C>T (p.Val495=)
c.1497C>T (p.Val499=)
c.1704C>T (p.Val568=)
n.479-22027G>A
n.563+22293G>A
c.1722C>T (p.Val574=)
 gnomAD v4
4g.47936997G>CCA439403903CNGA1,NIPAL1c.1485C>G (p.Val495=)
c.1497C>G (p.Val499=)
c.1704C>G (p.Val568=)
n.479-22027G>C
n.563+22293G>C
c.1722C>G (p.Val574=)
4g.47936997G>TCA439403904CNGA1,NIPAL1c.1485C>A (p.Val495=)
c.1497C>A (p.Val499=)
c.1704C>A (p.Val568=)
n.479-22027G>T
n.563+22293G>T
c.1722C>A (p.Val574=)
4g.47936998A=CA1455551797CNGA1,NIPAL1c.1484T= (p.Val495=)
c.1496T= (p.Val499=)
c.1703T= (p.Val568=)
n.479-22026A=
n.563+22294A=
c.1721T= (p.Val574=)
4g.47936998A>CCA356825552CNGA1,NIPAL1c.1484T>G (p.Val495Gly)
c.1496T>G (p.Val499Gly)
c.1703T>G (p.Val568Gly)
n.479-22026A>C
n.563+22294A>C
c.1721T>G (p.Val574Gly)
4g.47936998A>GCA356825549CNGA1,NIPAL1c.1484T>C (p.Val495Ala)
c.1496T>C (p.Val499Ala)
c.1703T>C (p.Val568Ala)
n.479-22026A>G
n.563+22294A>G
c.1721T>C (p.Val574Ala)
 dbSNP gnomAD v4
4g.47936998A>TCA356825550CNGA1,NIPAL1c.1484T>A (p.Val495Asp)
c.1496T>A (p.Val499Asp)
c.1703T>A (p.Val568Asp)
n.479-22026A>T
n.563+22294A>T
c.1721T>A (p.Val574Asp)
4g.47936999C>ACA356825555CNGA1,NIPAL1c.1483G>T (p.Val495Phe)
c.1495G>T (p.Val499Phe)
c.1702G>T (p.Val568Phe)
n.479-22025C>A
n.563+22295C>A
c.1720G>T (p.Val574Phe)
4g.47936999C>GCA356825559CNGA1,NIPAL1c.1483G>C (p.Val495Leu)
c.1495G>C (p.Val499Leu)
c.1702G>C (p.Val568Leu)
n.479-22025C>G
n.563+22295C>G
c.1720G>C (p.Val574Leu)
4g.47936999C>TCA356825557CNGA1,NIPAL1c.1483G>A (p.Val495Ile)
c.1495G>A (p.Val499Ile)
c.1702G>A (p.Val568Ile)
n.479-22025C>T
n.563+22295C>T
c.1720G>A (p.Val574Ile)
4g.47937000T>ACA356825561CNGA1,NIPAL1c.1482A>T (p.Gln494His)
c.1494A>T (p.Gln498His)
c.1701A>T (p.Gln567His)
n.479-22024T>A
n.563+22296T>A
c.1719A>T (p.Gln573His)
4g.47937000T>CCA439403907CNGA1,NIPAL1c.1482A>G (p.Gln494=)
c.1494A>G (p.Gln498=)
c.1701A>G (p.Gln567=)
n.479-22024T>C
n.563+22296T>C
c.1719A>G (p.Gln573=)
4g.47937000T>GCA356825563CNGA1,NIPAL1c.1482A>C (p.Gln494His)
c.1494A>C (p.Gln498His)
c.1701A>C (p.Gln567His)
n.479-22024T>G
n.563+22296T>G
c.1719A>C (p.Gln573His)
4g.47937001delCA2586973852CNGA1,NIPAL1c.1482del (p.Val495SerfsTer?)
c.1494del (p.Val499SerfsTer?)
c.1701del (p.Val568SerfsTer?)
n.479-22023del
n.563+22297del
c.1719del (p.Val574SerfsTer?)
4g.47937001T>ACA356825564CNGA1,NIPAL1c.1481A>T (p.Gln494Leu)
c.1493A>T (p.Gln498Leu)
c.1700A>T (p.Gln567Leu)
n.479-22023T>A
n.563+22297T>A
c.1718A>T (p.Gln573Leu)
4g.47937001T>CCA356825565CNGA1,NIPAL1c.1481A>G (p.Gln494Arg)
c.1493A>G (p.Gln498Arg)
c.1700A>G (p.Gln567Arg)
n.479-22023T>C
n.563+22297T>C
c.1718A>G (p.Gln573Arg)
 gnomAD v4
4g.47937001T>GCA356825567CNGA1,NIPAL1c.1481A>C (p.Gln494Pro)
c.1493A>C (p.Gln498Pro)
c.1700A>C (p.Gln567Pro)
n.479-22023T>G
n.563+22297T>G
c.1718A>C (p.Gln573Pro)
4g.47937002G>ACA356825570CNGA1,NIPAL1c.1480C>T (p.Gln494Ter)
c.1492C>T (p.Gln498Ter)
c.1699C>T (p.Gln567Ter)
n.479-22022G>A
n.563+22298G>A
c.1717C>T (p.Gln573Ter)
4g.47937002G>CCA356825571CNGA1,NIPAL1c.1480C>G (p.Gln494Glu)
c.1492C>G (p.Gln498Glu)
c.1699C>G (p.Gln567Glu)
n.479-22022G>C
n.563+22298G>C
c.1717C>G (p.Gln573Glu)
 gnomAD v4
4g.47937002G>TCA356825573CNGA1,NIPAL1c.1480C>A (p.Gln494Lys)
c.1492C>A (p.Gln498Lys)
c.1699C>A (p.Gln567Lys)
n.479-22022G>T
n.563+22298G>T
c.1717C>A (p.Gln573Lys)
4g.47937003G>ACA2911068CNGA1,NIPAL1c.1479C>T (p.Pro493=)
c.1491C>T (p.Pro497=)
c.1698C>T (p.Pro566=)
n.479-22021G>A
n.563+22299G>A
c.1716C>T (p.Pro572=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937003G>CCA439403909CNGA1,NIPAL1c.1479C>G (p.Pro493=)
c.1491C>G (p.Pro497=)
c.1698C>G (p.Pro566=)
n.479-22021G>C
n.563+22299G>C
c.1716C>G (p.Pro572=)
4g.47937003G=CA1455551798CNGA1,NIPAL1c.1479C= (p.Pro493=)
c.1491C= (p.Pro497=)
c.1698C= (p.Pro566=)
n.479-22021G=
n.563+22299G=
c.1716C= (p.Pro572=)
4g.47937003G>TCA439403910CNGA1,NIPAL1c.1479C>A (p.Pro493=)
c.1491C>A (p.Pro497=)
c.1698C>A (p.Pro566=)
n.479-22021G>T
n.563+22299G>T
c.1716C>A (p.Pro572=)
4g.47937004G>ACA96688544CNGA1,NIPAL1c.1478C>T (p.Pro493Leu)
c.1490C>T (p.Pro497Leu)
c.1697C>T (p.Pro566Leu)
n.479-22020G>A
n.563+22300G>A
c.1715C>T (p.Pro572Leu)
 dbSNP gnomAD v4
4g.47937004G>CCA356825578CNGA1,NIPAL1c.1478C>G (p.Pro493Arg)
c.1490C>G (p.Pro497Arg)
c.1697C>G (p.Pro566Arg)
n.479-22020G>C
n.563+22300G>C
c.1715C>G (p.Pro572Arg)
4g.47937004G=CA1455551799CNGA1,NIPAL1c.1478C= (p.Pro493=)
c.1490C= (p.Pro497=)
c.1697C= (p.Pro566=)
n.479-22020G=
n.563+22300G=
c.1715C= (p.Pro572=)
4g.47937004G>TCA356825580CNGA1,NIPAL1c.1478C>A (p.Pro493His)
c.1490C>A (p.Pro497His)
c.1697C>A (p.Pro566His)
n.479-22020G>T
n.563+22300G>T
c.1715C>A (p.Pro572His)
 dbSNP
4g.47937005G>ACA356825586CNGA1,NIPAL1c.1477C>T (p.Pro493Ser)
c.1489C>T (p.Pro497Ser)
c.1696C>T (p.Pro566Ser)
n.479-22019G>A
n.563+22301G>A
c.1714C>T (p.Pro572Ser)
 gnomAD v4
4g.47937005G>CCA356825584CNGA1,NIPAL1c.1477C>G (p.Pro493Ala)
c.1489C>G (p.Pro497Ala)
c.1696C>G (p.Pro566Ala)
n.479-22019G>C
n.563+22301G>C
c.1714C>G (p.Pro572Ala)
4g.47937005G>TCA356825583CNGA1,NIPAL1c.1477C>A (p.Pro493Thr)
c.1489C>A (p.Pro497Thr)
c.1696C>A (p.Pro566Thr)
n.479-22019G>T
n.563+22301G>T
c.1714C>A (p.Pro572Thr)
 dbSNP
4g.47937005_47937021delCA2670552349CNGA1,NIPAL1c.1461_1477del (p.Leu487PhefsTer?)
c.1473_1489del (p.Leu491PhefsTer?)
c.1680_1696del (p.Leu560PhefsTer?)
n.479-22019_479-22003del
n.563+22301_563+22317del
c.1698_1714del (p.Leu566PhefsTer?)
 gnomAD v4
4g.47937006T>ACA356825587CNGA1,NIPAL1c.1476A>T (p.Gln492His)
c.1488A>T (p.Gln496His)
c.1695A>T (p.Gln565His)
n.479-22018T>A
n.563+22302T>A
c.1713A>T (p.Gln571His)
4g.47937006T>CCA2911069CNGA1,NIPAL1c.1476A>G (p.Gln492=)
c.1488A>G (p.Gln496=)
c.1695A>G (p.Gln565=)
n.479-22018T>C
n.563+22302T>C
c.1713A>G (p.Gln571=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937006T>GCA356825589CNGA1,NIPAL1c.1476A>C (p.Gln492His)
c.1488A>C (p.Gln496His)
c.1695A>C (p.Gln565His)
n.479-22018T>G
n.563+22302T>G
c.1713A>C (p.Gln571His)
4g.47937006T=CA1455551800CNGA1,NIPAL1c.1476A= (p.Gln492=)
c.1488A= (p.Gln496=)
c.1695A= (p.Gln565=)
n.479-22018T=
n.563+22302T=
c.1713A= (p.Gln571=)
4g.47937007T>ACA356825590CNGA1,NIPAL1c.1475A>T (p.Gln492Leu)
c.1487A>T (p.Gln496Leu)
c.1694A>T (p.Gln565Leu)
n.479-22017T>A
n.563+22303T>A
c.1712A>T (p.Gln571Leu)
4g.47937007T>CCA356825592CNGA1,NIPAL1c.1475A>G (p.Gln492Arg)
c.1487A>G (p.Gln496Arg)
c.1694A>G (p.Gln565Arg)
n.479-22017T>C
n.563+22303T>C
c.1712A>G (p.Gln571Arg)
 gnomAD v4
4g.47937007T>GCA356825594CNGA1,NIPAL1c.1475A>C (p.Gln492Pro)
c.1487A>C (p.Gln496Pro)
c.1694A>C (p.Gln565Pro)
n.479-22017T>G
n.563+22303T>G
c.1712A>C (p.Gln571Pro)
 ClinVar dbSNP gnomAD v4
4g.47937007T=CA1455551801CNGA1,NIPAL1c.1475A= (p.Gln492=)
c.1487A= (p.Gln496=)
c.1694A= (p.Gln565=)
n.479-22017T=
n.563+22303T=
c.1712A= (p.Gln571=)
4g.47937008G>ACA356825596CNGA1,NIPAL1c.1474C>T (p.Gln492Ter)
c.1486C>T (p.Gln496Ter)
c.1693C>T (p.Gln565Ter)
n.479-22016G>A
n.563+22304G>A
c.1711C>T (p.Gln571Ter)
 dbSNP
4g.47937008G>CCA356825598CNGA1,NIPAL1c.1474C>G (p.Gln492Glu)
c.1486C>G (p.Gln496Glu)
c.1693C>G (p.Gln565Glu)
n.479-22016G>C
n.563+22304G>C
c.1711C>G (p.Gln571Glu)
4g.47937008G=CA1455551802CNGA1,NIPAL1c.1474C= (p.Gln492=)
c.1486C= (p.Gln496=)
c.1693C= (p.Gln565=)
n.479-22016G=
n.563+22304G=
c.1711C= (p.Gln571=)
4g.47937008G>TCA356825600CNGA1,NIPAL1c.1474C>A (p.Gln492Lys)
c.1486C>A (p.Gln496Lys)
c.1693C>A (p.Gln565Lys)
n.479-22016G>T
n.563+22304G>T
c.1711C>A (p.Gln571Lys)
4g.47937009C>ACA356825601CNGA1,NIPAL1c.1473G>T (p.Leu491Phe)
c.1485G>T (p.Leu495Phe)
c.1692G>T (p.Leu564Phe)
n.479-22015C>A
n.563+22305C>A
c.1710G>T (p.Leu570Phe)
4g.47937009C=CA1455551803CNGA1,NIPAL1c.1473G= (p.Leu491=)
c.1485G= (p.Leu495=)
c.1692G= (p.Leu564=)
n.479-22015C=
n.563+22305C=
c.1710G= (p.Leu570=)
4g.47937009C>GCA356825602CNGA1,NIPAL1c.1473G>C (p.Leu491Phe)
c.1485G>C (p.Leu495Phe)
c.1692G>C (p.Leu564Phe)
n.479-22015C>G
n.563+22305C>G
c.1710G>C (p.Leu570Phe)
 ClinVar
4g.47937009C>TCA439403921CNGA1,NIPAL1c.1473G>A (p.Leu491=)
c.1485G>A (p.Leu495=)
c.1692G>A (p.Leu564=)
n.479-22015C>T
n.563+22305C>T
c.1710G>A (p.Leu570=)
 dbSNP gnomAD v2
4g.47937010A>CCA356825607CNGA1,NIPAL1c.1472T>G (p.Leu491Trp)
c.1484T>G (p.Leu495Trp)
c.1691T>G (p.Leu564Trp)
n.479-22014A>C
n.563+22306A>C
c.1709T>G (p.Leu570Trp)
4g.47937010A>GCA356825609CNGA1,NIPAL1c.1472T>C (p.Leu491Ser)
c.1484T>C (p.Leu495Ser)
c.1691T>C (p.Leu564Ser)
n.479-22014A>G
n.563+22306A>G
c.1709T>C (p.Leu570Ser)
4g.47937010A>TCA356825606CNGA1,NIPAL1c.1472T>A (p.Leu491Ter)
c.1484T>A (p.Leu495Ter)
c.1691T>A (p.Leu564Ter)
n.479-22014A>T
n.563+22306A>T
c.1709T>A (p.Leu570Ter)
4g.47937010_47937013delCA2586973853CNGA1,NIPAL1c.1469_1472del (p.Lys490SerfsTer?)
c.1481_1484del (p.Lys494SerfsTer?)
c.1688_1691del (p.Lys563SerfsTer?)
n.479-22014_479-22011del
n.563+22306_563+22309del
c.1706_1709del (p.Lys569SerfsTer?)
4g.47937011A=CA1455551804CNGA1,NIPAL1c.1471T= (p.Leu491=)
c.1483T= (p.Leu495=)
c.1690T= (p.Leu564=)
n.479-22013A=
n.563+22307A=
c.1708T= (p.Leu570=)
4g.47937011A>CCA356825612CNGA1,NIPAL1c.1471T>G (p.Leu491Val)
c.1483T>G (p.Leu495Val)
c.1690T>G (p.Leu564Val)
n.479-22013A>C
n.563+22307A>C
c.1708T>G (p.Leu570Val)
4g.47937011A>GCA2911070CNGA1,NIPAL1c.1471T>C (p.Leu491=)
c.1483T>C (p.Leu495=)
c.1690T>C (p.Leu564=)
n.479-22013A>G
n.563+22307A>G
c.1708T>C (p.Leu570=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937011A>TCA356825614CNGA1,NIPAL1c.1471T>A (p.Leu491Met)
c.1483T>A (p.Leu495Met)
c.1690T>A (p.Leu564Met)
n.479-22013A>T
n.563+22307A>T
c.1708T>A (p.Leu570Met)
4g.47937012T>ACA356825616CNGA1,NIPAL1c.1470A>T (p.Lys490Asn)
c.1482A>T (p.Lys494Asn)
c.1689A>T (p.Lys563Asn)
n.479-22012T>A
n.563+22308T>A
c.1707A>T (p.Lys569Asn)
4g.47937012T>CCA439403922CNGA1,NIPAL1c.1470A>G (p.Lys490=)
c.1482A>G (p.Lys494=)
c.1689A>G (p.Lys563=)
n.479-22012T>C
n.563+22308T>C
c.1707A>G (p.Lys569=)
4g.47937012T>GCA356825618CNGA1,NIPAL1c.1470A>C (p.Lys490Asn)
c.1482A>C (p.Lys494Asn)
c.1689A>C (p.Lys563Asn)
n.479-22012T>G
n.563+22308T>G
c.1707A>C (p.Lys569Asn)
4g.47937013_47937014delCA2578081538CNGA1,NIPAL1c.1469_1470del (p.Lys490IlefsTer?)
c.1481_1482del (p.Lys494IlefsTer?)
c.1688_1689del (p.Lys563IlefsTer?)
n.479-22011_479-22010del
n.563+22309_563+22310del
c.1706_1707del (p.Lys569IlefsTer?)
4g.47937013T>ACA356825624CNGA1,NIPAL1c.1469A>T (p.Lys490Ile)
c.1481A>T (p.Lys494Ile)
c.1688A>T (p.Lys563Ile)
n.479-22011T>A
n.563+22309T>A
c.1706A>T (p.Lys569Ile)
4g.47937013T>CCA356825621CNGA1,NIPAL1c.1469A>G (p.Lys490Arg)
c.1481A>G (p.Lys494Arg)
c.1688A>G (p.Lys563Arg)
n.479-22011T>C
n.563+22309T>C
c.1706A>G (p.Lys569Arg)
4g.47937013T>GCA356825622CNGA1,NIPAL1c.1469A>C (p.Lys490Thr)
c.1481A>C (p.Lys494Thr)
c.1688A>C (p.Lys563Thr)
n.479-22011T>G
n.563+22309T>G
c.1706A>C (p.Lys569Thr)
4g.47937014T>ACA356825627CNGA1,NIPAL1c.1468A>T (p.Lys490Ter)
c.1480A>T (p.Lys494Ter)
c.1687A>T (p.Lys563Ter)
n.479-22010T>A
n.563+22310T>A
c.1705A>T (p.Lys569Ter)
4g.47937014T>CCA356825629CNGA1,NIPAL1c.1468A>G (p.Lys490Glu)
c.1480A>G (p.Lys494Glu)
c.1687A>G (p.Lys563Glu)
n.479-22010T>C
n.563+22310T>C
c.1705A>G (p.Lys569Glu)
4g.47937014T>GCA356825630CNGA1,NIPAL1c.1468A>C (p.Lys490Gln)
c.1480A>C (p.Lys494Gln)
c.1687A>C (p.Lys563Gln)
n.479-22010T>G
n.563+22310T>G
c.1705A>C (p.Lys569Gln)
4g.47937015C>ACA356825632CNGA1,NIPAL1c.1467G>T (p.Leu489Phe)
c.1479G>T (p.Leu493Phe)
c.1686G>T (p.Leu562Phe)
n.479-22009C>A
n.563+22311C>A
c.1704G>T (p.Leu568Phe)
4g.47937015C>GCA356825633CNGA1,NIPAL1c.1467G>C (p.Leu489Phe)
c.1479G>C (p.Leu493Phe)
c.1686G>C (p.Leu562Phe)
n.479-22009C>G
n.563+22311C>G
c.1704G>C (p.Leu568Phe)
4g.47937015C>TCA439403928CNGA1,NIPAL1c.1467G>A (p.Leu489=)
c.1479G>A (p.Leu493=)
c.1686G>A (p.Leu562=)
n.479-22009C>T
n.563+22311C>T
c.1704G>A (p.Leu568=)
 ClinVar
4g.47937016A>CCA356825636CNGA1,NIPAL1c.1466T>G (p.Leu489Trp)
c.1478T>G (p.Leu493Trp)
c.1685T>G (p.Leu562Trp)
n.479-22008A>C
n.563+22312A>C
c.1703T>G (p.Leu568Trp)
4g.47937016A>GCA356825639CNGA1,NIPAL1c.1466T>C (p.Leu489Ser)
c.1478T>C (p.Leu493Ser)
c.1685T>C (p.Leu562Ser)
n.479-22008A>G
n.563+22312A>G
c.1703T>C (p.Leu568Ser)
4g.47937016A>TCA356825637CNGA1,NIPAL1c.1466T>A (p.Leu489Ter)
c.1478T>A (p.Leu493Ter)
c.1685T>A (p.Leu562Ter)
n.479-22008A>T
n.563+22312A>T
c.1703T>A (p.Leu568Ter)
4g.47937017A=CA1455551805CNGA1,NIPAL1c.1465T= (p.Leu489=)
c.1477T= (p.Leu493=)
c.1684T= (p.Leu562=)
n.479-22007A=
n.563+22313A=
c.1702T= (p.Leu568=)
4g.47937017A>CCA356825641CNGA1,NIPAL1c.1465T>G (p.Leu489Val)
c.1477T>G (p.Leu493Val)
c.1684T>G (p.Leu562Val)
n.479-22007A>C
n.563+22313A>C
c.1702T>G (p.Leu568Val)
4g.47937017A>GCA2911071CNGA1,NIPAL1c.1465T>C (p.Leu489=)
c.1477T>C (p.Leu493=)
c.1684T>C (p.Leu562=)
n.479-22007A>G
n.563+22313A>G
c.1702T>C (p.Leu568=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937017A>TCA356825644CNGA1,NIPAL1c.1465T>A (p.Leu489Met)
c.1477T>A (p.Leu493Met)
c.1684T>A (p.Leu562Met)
n.479-22007A>T
n.563+22313A>T
c.1702T>A (p.Leu568Met)
4g.47937018G>ACA439404036CNGA1,NIPAL1c.1464C>T (p.Val488=)
c.1476C>T (p.Val492=)
c.1683C>T (p.Val561=)
n.479-22006G>A
n.563+22314G>A
c.1701C>T (p.Val567=)
4g.47937018G>CCA439404039CNGA1,NIPAL1c.1464C>G (p.Val488=)
c.1476C>G (p.Val492=)
c.1683C>G (p.Val561=)
n.479-22006G>C
n.563+22314G>C
c.1701C>G (p.Val567=)
4g.47937018G>TCA439404041CNGA1,NIPAL1c.1464C>A (p.Val488=)
c.1476C>A (p.Val492=)
c.1683C>A (p.Val561=)
n.479-22006G>T
n.563+22314G>T
c.1701C>A (p.Val567=)
4g.47937018_47937021delCA2761332294CNGA1,NIPAL1c.1461_1464del (p.Leu487PhefsTer2)
c.1473_1476del (p.Leu491PhefsTer2)
c.1680_1683del (p.Leu560PhefsTer2)
n.479-22006_479-22003del
n.563+22314_563+22317del
c.1698_1701del (p.Leu566PhefsTer2)
4g.47937019A=CA1455551806CNGA1,NIPAL1c.1463T= (p.Val488=)
c.1475T= (p.Val492=)
c.1682T= (p.Val561=)
n.479-22005A=
n.563+22315A=
c.1700T= (p.Val567=)
4g.47937019A>CCA356825646CNGA1,NIPAL1c.1463T>G (p.Val488Gly)
c.1475T>G (p.Val492Gly)
c.1682T>G (p.Val561Gly)
n.479-22005A>C
n.563+22315A>C
c.1700T>G (p.Val567Gly)
4g.47937019A>GCA2911072CNGA1,NIPAL1c.1463T>C (p.Val488Ala)
c.1475T>C (p.Val492Ala)
c.1682T>C (p.Val561Ala)
n.479-22005A>G
n.563+22315A>G
c.1700T>C (p.Val567Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937019A>TCA356825649CNGA1,NIPAL1c.1463T>A (p.Val488Asp)
c.1475T>A (p.Val492Asp)
c.1682T>A (p.Val561Asp)
n.479-22005A>T
n.563+22315A>T
c.1700T>A (p.Val567Asp)
4g.47937020C>ACA356825651CNGA1,NIPAL1c.1462G>T (p.Val488Phe)
c.1474G>T (p.Val492Phe)
c.1681G>T (p.Val561Phe)
n.479-22004C>A
n.563+22316C>A
c.1699G>T (p.Val567Phe)
 gnomAD v4
4g.47937020C>GCA356825653CNGA1,NIPAL1c.1462G>C (p.Val488Leu)
c.1474G>C (p.Val492Leu)
c.1681G>C (p.Val561Leu)
n.479-22004C>G
n.563+22316C>G
c.1699G>C (p.Val567Leu)
 gnomAD v4
4g.47937020C>TCA356825654CNGA1,NIPAL1c.1462G>A (p.Val488Ile)
c.1474G>A (p.Val492Ile)
c.1681G>A (p.Val561Ile)
n.479-22004C>T
n.563+22316C>T
c.1699G>A (p.Val567Ile)
4g.47937021C>ACA356825655CNGA1,NIPAL1c.1461G>T (p.Leu487Phe)
c.1473G>T (p.Leu491Phe)
c.1680G>T (p.Leu560Phe)
n.479-22003C>A
n.563+22317C>A
c.1698G>T (p.Leu566Phe)
4g.47937021C=CA1455551807CNGA1,NIPAL1c.1461G= (p.Leu487=)
c.1473G= (p.Leu491=)
c.1680G= (p.Leu560=)
n.479-22003C=
n.563+22317C=
c.1698G= (p.Leu566=)
4g.47937021C>GCA356825657CNGA1,NIPAL1c.1461G>C (p.Leu487Phe)
c.1473G>C (p.Leu491Phe)
c.1680G>C (p.Leu560Phe)
n.479-22003C>G
n.563+22317C>G
c.1698G>C (p.Leu566Phe)
4g.47937021C>TCA2911073CNGA1,NIPAL1c.1461G>A (p.Leu487=)
c.1473G>A (p.Leu491=)
c.1680G>A (p.Leu560=)
n.479-22003C>T
n.563+22317C>T
c.1698G>A (p.Leu566=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937022A>CCA356825664CNGA1,NIPAL1c.1460T>G (p.Leu487Trp)
c.1472T>G (p.Leu491Trp)
c.1679T>G (p.Leu560Trp)
n.479-22002A>C
n.563+22318A>C
c.1697T>G (p.Leu566Trp)
4g.47937022A>GCA356825662CNGA1,NIPAL1c.1460T>C (p.Leu487Ser)
c.1472T>C (p.Leu491Ser)
c.1679T>C (p.Leu560Ser)
n.479-22002A>G
n.563+22318A>G
c.1697T>C (p.Leu566Ser)
 gnomAD v4
4g.47937022A>TCA356825660CNGA1,NIPAL1c.1460T>A (p.Leu487Ter)
c.1472T>A (p.Leu491Ter)
c.1679T>A (p.Leu560Ter)
n.479-22002A>T
n.563+22318A>T
c.1697T>A (p.Leu566Ter)
4g.47937023A=CA1455551808CNGA1,NIPAL1c.1459T= (p.Leu487=)
c.1471T= (p.Leu491=)
c.1678T= (p.Leu560=)
n.479-22001A=
n.563+22319A=
c.1696T= (p.Leu566=)
4g.47937023A>CCA356825668CNGA1,NIPAL1c.1459T>G (p.Leu487Val)
c.1471T>G (p.Leu491Val)
c.1678T>G (p.Leu560Val)
n.479-22001A>C
n.563+22319A>C
c.1696T>G (p.Leu566Val)
4g.47937023A>GCA96688586CNGA1,NIPAL1c.1459T>C (p.Leu487=)
c.1471T>C (p.Leu491=)
c.1678T>C (p.Leu560=)
n.479-22001A>G
n.563+22319A>G
c.1696T>C (p.Leu566=)
 ClinVar dbSNP gnomAD v4
4g.47937023A>TCA356825666CNGA1,NIPAL1c.1459T>A (p.Leu487Met)
c.1471T>A (p.Leu491Met)
c.1678T>A (p.Leu560Met)
n.479-22001A>T
n.563+22319A>T
c.1696T>A (p.Leu566Met)
4g.47937024C>ACA356825670CNGA1,NIPAL1c.1458G>T (p.Glu486Asp)
c.1470G>T (p.Glu490Asp)
c.1677G>T (p.Glu559Asp)
n.479-22000C>A
n.563+22320C>A
c.1695G>T (p.Glu565Asp)
4g.47937024C>GCA356825672CNGA1,NIPAL1c.1458G>C (p.Glu486Asp)
c.1470G>C (p.Glu490Asp)
c.1677G>C (p.Glu559Asp)
n.479-22000C>G
n.563+22320C>G
c.1695G>C (p.Glu565Asp)
4g.47937024C>TCA439404050CNGA1,NIPAL1c.1458G>A (p.Glu486=)
c.1470G>A (p.Glu490=)
c.1677G>A (p.Glu559=)
n.479-22000C>T
n.563+22320C>T
c.1695G>A (p.Glu565=)
 gnomAD v4
4g.47937024_47937025insAAGTCA2761332295CNGA1,NIPAL1c.1457_1458insACTT (p.Leu489GlyfsTer?)
c.1469_1470insACTT (p.Leu493GlyfsTer?)
c.1676_1677insACTT (p.Leu562GlyfsTer?)
n.479-22000_479-21999insAAGT
n.563+22320_563+22321insAAGT
c.1694_1695insACTT (p.Leu568GlyfsTer?)
4g.47937025T>ACA356825675CNGA1,NIPAL1c.1457A>T (p.Glu486Val)
c.1469A>T (p.Glu490Val)
c.1676A>T (p.Glu559Val)
n.479-21999T>A
n.563+22321T>A
c.1694A>T (p.Glu565Val)
4g.47937025T>CCA356825677CNGA1,NIPAL1c.1457A>G (p.Glu486Gly)
c.1469A>G (p.Glu490Gly)
c.1676A>G (p.Glu559Gly)
n.479-21999T>C
n.563+22321T>C
c.1694A>G (p.Glu565Gly)
4g.47937025T>GCA356825679CNGA1,NIPAL1c.1457A>C (p.Glu486Ala)
c.1469A>C (p.Glu490Ala)
c.1676A>C (p.Glu559Ala)
n.479-21999T>G
n.563+22321T>G
c.1694A>C (p.Glu565Ala)
4g.47937025_47937028delinsTCCACA1455551809CNGA1,NIPAL1c.1454_1457delinsTGGA (p.Val485=)
c.1466_1469delinsTGGA (p.Val489=)
c.1673_1676delinsTGGA (p.Val558=)
n.479-21999_479-21996delinsTCCA
n.563+22321_563+22324delinsTCCA
c.1691_1694delinsTGGA (p.Val564=)
4g.47937026C>ACA356825682CNGA1,NIPAL1c.1456G>T (p.Glu486Ter)
c.1468G>T (p.Glu490Ter)
c.1675G>T (p.Glu559Ter)
n.479-21998C>A
n.563+22322C>A
c.1693G>T (p.Glu565Ter)
4g.47937026C=CA1455551810CNGA1,NIPAL1c.1456G= (p.Glu486=)
c.1468G= (p.Glu490=)
c.1675G= (p.Glu559=)
n.479-21998C=
n.563+22322C=
c.1693G= (p.Glu565=)
4g.47937026C>GCA356825684CNGA1,NIPAL1c.1456G>C (p.Glu486Gln)
c.1468G>C (p.Glu490Gln)
c.1675G>C (p.Glu559Gln)
n.479-21998C>G
n.563+22322C>G
c.1693G>C (p.Glu565Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47937026C>TCA356825685CNGA1,NIPAL1c.1456G>A (p.Glu486Lys)
c.1468G>A (p.Glu490Lys)
c.1675G>A (p.Glu559Lys)
n.479-21998C>T
n.563+22322C>T
c.1693G>A (p.Glu565Lys)
4g.47937029_47937031delCA2911074CNGA1,NIPAL1c.1454_1456del (p.Val485del)
c.1466_1468del (p.Val489del)
c.1673_1675del (p.Val558del)
n.479-21995_479-21993del
n.563+22325_563+22327del
c.1691_1693del (p.Val564del)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937027C>ACA439404057CNGA1,NIPAL1c.1455G>T (p.Val485=)
c.1467G>T (p.Val489=)
c.1674G>T (p.Val558=)
n.479-21997C>A
n.563+22323C>A
c.1692G>T (p.Val564=)
4g.47937027C>GCA439404055CNGA1,NIPAL1c.1455G>C (p.Val485=)
c.1467G>C (p.Val489=)
c.1674G>C (p.Val558=)
n.479-21997C>G
n.563+22323C>G
c.1692G>C (p.Val564=)
4g.47937027C>TCA439404056CNGA1,NIPAL1c.1455G>A (p.Val485=)
c.1467G>A (p.Val489=)
c.1674G>A (p.Val558=)
n.479-21997C>T
n.563+22323C>T
c.1692G>A (p.Val564=)
 dbSNP
4g.47937028A>CCA356825688CNGA1,NIPAL1c.1454T>G (p.Val485Gly)
c.1466T>G (p.Val489Gly)
c.1673T>G (p.Val558Gly)
n.479-21996A>C
n.563+22324A>C
c.1691T>G (p.Val564Gly)
4g.47937028A>GCA356825689CNGA1,NIPAL1c.1454T>C (p.Val485Ala)
c.1466T>C (p.Val489Ala)
c.1673T>C (p.Val558Ala)
n.479-21996A>G
n.563+22324A>G
c.1691T>C (p.Val564Ala)
4g.47937028A>TCA356825691CNGA1,NIPAL1c.1454T>A (p.Val485Glu)
c.1466T>A (p.Val489Glu)
c.1673T>A (p.Val558Glu)
n.479-21996A>T
n.563+22324A>T
c.1691T>A (p.Val564Glu)
4g.47937029C>ACA356825695CNGA1,NIPAL1c.1453G>T (p.Val485Leu)
c.1465G>T (p.Val489Leu)
c.1672G>T (p.Val558Leu)
n.479-21995C>A
n.563+22325C>A
c.1690G>T (p.Val564Leu)
4g.47937029C=CA1455551811CNGA1,NIPAL1c.1453G= (p.Val485=)
c.1465G= (p.Val489=)
c.1672G= (p.Val558=)
n.479-21995C=
n.563+22325C=
c.1690G= (p.Val564=)
4g.47937029C>GCA356825693CNGA1,NIPAL1c.1453G>C (p.Val485Leu)
c.1465G>C (p.Val489Leu)
c.1672G>C (p.Val558Leu)
n.479-21995C>G
n.563+22325C>G
c.1690G>C (p.Val564Leu)
4g.47937029C>TCA2911075CNGA1,NIPAL1c.1453G>A (p.Val485Met)
c.1465G>A (p.Val489Met)
c.1672G>A (p.Val558Met)
n.479-21995C>T
n.563+22325C>T
c.1690G>A (p.Val564Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937030C>ACA356825698CNGA1,NIPAL1c.1452G>T (p.Leu484Phe)
c.1464G>T (p.Leu488Phe)
c.1671G>T (p.Leu557Phe)
n.479-21994C>A
n.563+22326C>A
c.1689G>T (p.Leu563Phe)
 gnomAD v4
4g.47937030C>GCA356825699CNGA1,NIPAL1c.1452G>C (p.Leu484Phe)
c.1464G>C (p.Leu488Phe)
c.1671G>C (p.Leu557Phe)
n.479-21994C>G
n.563+22326C>G
c.1689G>C (p.Leu563Phe)
4g.47937030C>TCA439404059CNGA1,NIPAL1c.1452G>A (p.Leu484=)
c.1464G>A (p.Leu488=)
c.1671G>A (p.Leu557=)
n.479-21994C>T
n.563+22326C>T
c.1689G>A (p.Leu563=)
4g.47937031A>CCA356825702CNGA1,NIPAL1c.1451T>G (p.Leu484Trp)
c.1463T>G (p.Leu488Trp)
c.1670T>G (p.Leu557Trp)
n.479-21993A>C
n.563+22327A>C
c.1688T>G (p.Leu563Trp)
4g.47937031A>GCA356825704CNGA1,NIPAL1c.1451T>C (p.Leu484Ser)
c.1463T>C (p.Leu488Ser)
c.1670T>C (p.Leu557Ser)
n.479-21993A>G
n.563+22327A>G
c.1688T>C (p.Leu563Ser)
4g.47937031A>TCA356825705CNGA1,NIPAL1c.1451T>A (p.Leu484Ter)
c.1463T>A (p.Leu488Ter)
c.1670T>A (p.Leu557Ter)
n.479-21993A>T
n.563+22327A>T
c.1688T>A (p.Leu563Ter)
4g.47937032A>CCA356825708CNGA1,NIPAL1c.1450T>G (p.Leu484Val)
c.1462T>G (p.Leu488Val)
c.1669T>G (p.Leu557Val)
n.479-21992A>C
n.563+22328A>C
c.1687T>G (p.Leu563Val)
4g.47937032A>GCA439404063CNGA1,NIPAL1c.1450T>C (p.Leu484=)
c.1462T>C (p.Leu488=)
c.1669T>C (p.Leu557=)
n.479-21992A>G
n.563+22328A>G
c.1687T>C (p.Leu563=)
4g.47937032A>TCA356825709CNGA1,NIPAL1c.1450T>A (p.Leu484Met)
c.1462T>A (p.Leu488Met)
c.1669T>A (p.Leu557Met)
n.479-21992A>T
n.563+22328A>T
c.1687T>A (p.Leu563Met)
4g.47937033C>ACA439404065CNGA1,NIPAL1c.1449G>T (p.Leu483=)
c.1461G>T (p.Leu487=)
c.1668G>T (p.Leu556=)
n.479-21991C>A
n.563+22329C>A
c.1686G>T (p.Leu562=)
 gnomAD v4
4g.47937033C=CA1455551812CNGA1,NIPAL1c.1449G= (p.Leu483=)
c.1461G= (p.Leu487=)
c.1668G= (p.Leu556=)
n.479-21991C=
n.563+22329C=
c.1686G= (p.Leu562=)
4g.47937033C>GCA439404067CNGA1,NIPAL1c.1449G>C (p.Leu483=)
c.1461G>C (p.Leu487=)
c.1668G>C (p.Leu556=)
n.479-21991C>G
n.563+22329C>G
c.1686G>C (p.Leu562=)
4g.47937033C>TCA439404069CNGA1,NIPAL1c.1449G>A (p.Leu483=)
c.1461G>A (p.Leu487=)
c.1668G>A (p.Leu556=)
n.479-21991C>T
n.563+22329C>T
c.1686G>A (p.Leu562=)
 dbSNP gnomAD v2 gnomAD v4
4g.47937034A>CCA356825712CNGA1,NIPAL1c.1448T>G (p.Leu483Arg)
c.1460T>G (p.Leu487Arg)
c.1667T>G (p.Leu556Arg)
n.479-21990A>C
n.563+22330A>C
c.1685T>G (p.Leu562Arg)
 ClinVar gnomAD v4
4g.47937034A>GCA356825713CNGA1,NIPAL1c.1448T>C (p.Leu483Pro)
c.1460T>C (p.Leu487Pro)
c.1667T>C (p.Leu556Pro)
n.479-21990A>G
n.563+22330A>G
c.1685T>C (p.Leu562Pro)
4g.47937034A>TCA356825715CNGA1,NIPAL1c.1448T>A (p.Leu483Gln)
c.1460T>A (p.Leu487Gln)
c.1667T>A (p.Leu556Gln)
n.479-21990A>T
n.563+22330A>T
c.1685T>A (p.Leu562Gln)
4g.47937035G>ACA2911076CNGA1,NIPAL1c.1447C>T (p.Leu483=)
c.1459C>T (p.Leu487=)
c.1666C>T (p.Leu556=)
n.479-21989G>A
n.563+22331G>A
c.1684C>T (p.Leu562=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937035G>CCA356825719CNGA1,NIPAL1c.1447C>G (p.Leu483Val)
c.1459C>G (p.Leu487Val)
c.1666C>G (p.Leu556Val)
n.479-21989G>C
n.563+22331G>C
c.1684C>G (p.Leu562Val)
4g.47937035G=CA1455551813CNGA1,NIPAL1c.1447C= (p.Leu483=)
c.1459C= (p.Leu487=)
c.1666C= (p.Leu556=)
n.479-21989G=
n.563+22331G=
c.1684C= (p.Leu562=)
4g.47937035G>TCA356825721CNGA1,NIPAL1c.1447C>A (p.Leu483Met)
c.1459C>A (p.Leu487Met)
c.1666C>A (p.Leu556Met)
n.479-21989G>T
n.563+22331G>T
c.1684C>A (p.Leu562Met)
4g.47937036A=CA1455551814CNGA1,NIPAL1c.1446T= (p.Gly482=)
c.1458T= (p.Gly486=)
c.1665T= (p.Gly555=)
n.479-21988A=
n.563+22332A=
c.1683T= (p.Gly561=)
4g.47937036A>CCA439404073CNGA1,NIPAL1c.1446T>G (p.Gly482=)
c.1458T>G (p.Gly486=)
c.1665T>G (p.Gly555=)
n.479-21988A>C
n.563+22332A>C
c.1683T>G (p.Gly561=)
4g.47937036A>GCA2911077CNGA1,NIPAL1c.1446T>C (p.Gly482=)
c.1458T>C (p.Gly486=)
c.1665T>C (p.Gly555=)
n.479-21988A>G
n.563+22332A>G
c.1683T>C (p.Gly561=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937036A>TCA439404074CNGA1,NIPAL1c.1446T>A (p.Gly482=)
c.1458T>A (p.Gly486=)
c.1665T>A (p.Gly555=)
n.479-21988A>T
n.563+22332A>T
c.1683T>A (p.Gly561=)
4g.47937037C>ACA356825727CNGA1,NIPAL1c.1445G>T (p.Gly482Val)
c.1457G>T (p.Gly486Val)
c.1664G>T (p.Gly555Val)
n.479-21987C>A
n.563+22333C>A
c.1682G>T (p.Gly561Val)
4g.47937037C>GCA356825729CNGA1,NIPAL1c.1445G>C (p.Gly482Ala)
c.1457G>C (p.Gly486Ala)
c.1664G>C (p.Gly555Ala)
n.479-21987C>G
n.563+22333C>G
c.1682G>C (p.Gly561Ala)
4g.47937037C>TCA356825725CNGA1,NIPAL1c.1445G>A (p.Gly482Asp)
c.1457G>A (p.Gly486Asp)
c.1664G>A (p.Gly555Asp)
n.479-21987C>T
n.563+22333C>T
c.1682G>A (p.Gly561Asp)
4g.47937038C>ACA356825731CNGA1,NIPAL1c.1444G>T (p.Gly482Cys)
c.1456G>T (p.Gly486Cys)
c.1663G>T (p.Gly555Cys)
n.479-21986C>A
n.563+22334C>A
c.1681G>T (p.Gly561Cys)
4g.47937038C=CA1455551815CNGA1,NIPAL1c.1444G= (p.Gly482=)
c.1456G= (p.Gly486=)
c.1663G= (p.Gly555=)
n.479-21986C=
n.563+22334C=
c.1681G= (p.Gly561=)
4g.47937038C>GCA356825733CNGA1,NIPAL1c.1444G>C (p.Gly482Arg)
c.1456G>C (p.Gly486Arg)
c.1663G>C (p.Gly555Arg)
n.479-21986C>G
n.563+22334C>G
c.1681G>C (p.Gly561Arg)
 dbSNP
4g.47937038C>TCA356825735CNGA1,NIPAL1c.1444G>A (p.Gly482Ser)
c.1456G>A (p.Gly486Ser)
c.1663G>A (p.Gly555Ser)
n.479-21986C>T
n.563+22334C>T
c.1681G>A (p.Gly561Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.47937039A>CCA439404077CNGA1,NIPAL1c.1443T>G (p.Ala481=)
c.1455T>G (p.Ala485=)
c.1662T>G (p.Ala554=)
n.479-21985A>C
n.563+22335A>C
c.1680T>G (p.Ala560=)
4g.47937039A>GCA439404078CNGA1,NIPAL1c.1443T>C (p.Ala481=)
c.1455T>C (p.Ala485=)
c.1662T>C (p.Ala554=)
n.479-21985A>G
n.563+22335A>G
c.1680T>C (p.Ala560=)
4g.47937039A>TCA439404080CNGA1,NIPAL1c.1443T>A (p.Ala481=)
c.1455T>A (p.Ala485=)
c.1662T>A (p.Ala554=)
n.479-21985A>T
n.563+22335A>T
c.1680T>A (p.Ala560=)
4g.47937040G>ACA356825737CNGA1,NIPAL1c.1442C>T (p.Ala481Val)
c.1454C>T (p.Ala485Val)
c.1661C>T (p.Ala554Val)
n.479-21984G>A
n.563+22336G>A
c.1679C>T (p.Ala560Val)
4g.47937040G>CCA356825739CNGA1,NIPAL1c.1442C>G (p.Ala481Gly)
c.1454C>G (p.Ala485Gly)
c.1661C>G (p.Ala554Gly)
n.479-21984G>C
n.563+22336G>C
c.1679C>G (p.Ala560Gly)
4g.47937040G>TCA356825740CNGA1,NIPAL1c.1442C>A (p.Ala481Asp)
c.1454C>A (p.Ala485Asp)
c.1661C>A (p.Ala554Asp)
n.479-21984G>T
n.563+22336G>T
c.1679C>A (p.Ala560Asp)
4g.47937041C>ACA356825741CNGA1,NIPAL1c.1441G>T (p.Ala481Ser)
c.1453G>T (p.Ala485Ser)
c.1660G>T (p.Ala554Ser)
n.479-21983C>A
n.563+22337C>A
c.1678G>T (p.Ala560Ser)
4g.47937041C>GCA356825743CNGA1,NIPAL1c.1441G>C (p.Ala481Pro)
c.1453G>C (p.Ala485Pro)
c.1660G>C (p.Ala554Pro)
n.479-21983C>G
n.563+22337C>G
c.1678G>C (p.Ala560Pro)
4g.47937041C>TCA356825745CNGA1,NIPAL1c.1441G>A (p.Ala481Thr)
c.1453G>A (p.Ala485Thr)
c.1660G>A (p.Ala554Thr)
n.479-21983C>T
n.563+22337C>T
c.1678G>A (p.Ala560Thr)
 gnomAD v4
4g.47937042T>ACA356825747CNGA1,NIPAL1c.1440A>T (p.Glu480Asp)
c.1452A>T (p.Glu484Asp)
c.1659A>T (p.Glu553Asp)
n.479-21982T>A
n.563+22338T>A
c.1677A>T (p.Glu559Asp)
4g.47937042T>CCA439404084CNGA1,NIPAL1c.1440A>G (p.Glu480=)
c.1452A>G (p.Glu484=)
c.1659A>G (p.Glu553=)
n.479-21982T>C
n.563+22338T>C
c.1677A>G (p.Glu559=)
 dbSNP gnomAD v2 gnomAD v4
4g.47937042T>GCA356825749CNGA1,NIPAL1c.1440A>C (p.Glu480Asp)
c.1452A>C (p.Glu484Asp)
c.1659A>C (p.Glu553Asp)
n.479-21982T>G
n.563+22338T>G
c.1677A>C (p.Glu559Asp)
4g.47937042T=CA1455551816CNGA1,NIPAL1c.1440A= (p.Glu480=)
c.1452A= (p.Glu484=)
c.1659A= (p.Glu553=)
n.479-21982T=
n.563+22338T=
c.1677A= (p.Glu559=)
4g.47937043T>ACA356825755CNGA1,NIPAL1c.1439A>T (p.Glu480Val)
c.1451A>T (p.Glu484Val)
c.1658A>T (p.Glu553Val)
n.479-21981T>A
n.563+22339T>A
c.1676A>T (p.Glu559Val)
4g.47937043T>CCA356825753CNGA1,NIPAL1c.1439A>G (p.Glu480Gly)
c.1451A>G (p.Glu484Gly)
c.1658A>G (p.Glu553Gly)
n.479-21981T>C
n.563+22339T>C
c.1676A>G (p.Glu559Gly)
 gnomAD v4
4g.47937043T>GCA356825751CNGA1,NIPAL1c.1439A>C (p.Glu480Ala)
c.1451A>C (p.Glu484Ala)
c.1658A>C (p.Glu553Ala)
n.479-21981T>G
n.563+22339T>G
c.1676A>C (p.Glu559Ala)
4g.47937044C>ACA356825757CNGA1,NIPAL1c.1438G>T (p.Glu480Ter)
c.1450G>T (p.Glu484Ter)
c.1657G>T (p.Glu553Ter)
n.479-21980C>A
n.563+22340C>A
c.1675G>T (p.Glu559Ter)
4g.47937044C>GCA356825759CNGA1,NIPAL1c.1438G>C (p.Glu480Gln)
c.1450G>C (p.Glu484Gln)
c.1657G>C (p.Glu553Gln)
n.479-21980C>G
n.563+22340C>G
c.1675G>C (p.Glu559Gln)
4g.47937044C>TCA356825761CNGA1,NIPAL1c.1438G>A (p.Glu480Lys)
c.1450G>A (p.Glu484Lys)
c.1657G>A (p.Glu553Lys)
n.479-21980C>T
n.563+22340C>T
c.1675G>A (p.Glu559Lys)
4g.47937045A>CCA356825764CNGA1,NIPAL1c.1437T>G (p.Cys479Trp)
c.1449T>G (p.Cys483Trp)
c.1656T>G (p.Cys552Trp)
n.479-21979A>C
n.563+22341A>C
c.1674T>G (p.Cys558Trp)
4g.47937045A>GCA439404089CNGA1,NIPAL1c.1437T>C (p.Cys479=)
c.1449T>C (p.Cys483=)
c.1656T>C (p.Cys552=)
n.479-21979A>G
n.563+22341A>G
c.1674T>C (p.Cys558=)
4g.47937045A>TCA356825766CNGA1,NIPAL1c.1437T>A (p.Cys479Ter)
c.1449T>A (p.Cys483Ter)
c.1656T>A (p.Cys552Ter)
n.479-21979A>T
n.563+22341A>T
c.1674T>A (p.Cys558Ter)
4g.47937046C>ACA356825767CNGA1,NIPAL1c.1436G>T (p.Cys479Phe)
c.1448G>T (p.Cys483Phe)
c.1655G>T (p.Cys552Phe)
n.479-21978C>A
n.563+22342C>A
c.1673G>T (p.Cys558Phe)
4g.47937046C=CA1455551817CNGA1,NIPAL1c.1436G= (p.Cys479=)
c.1448G= (p.Cys483=)
c.1655G= (p.Cys552=)
n.479-21978C=
n.563+22342C=
c.1673G= (p.Cys558=)
4g.47937046C>GCA356825769CNGA1,NIPAL1c.1436G>C (p.Cys479Ser)
c.1448G>C (p.Cys483Ser)
c.1655G>C (p.Cys552Ser)
n.479-21978C>G
n.563+22342C>G
c.1673G>C (p.Cys558Ser)
 dbSNP gnomAD v4
4g.47937046C>TCA356825771CNGA1,NIPAL1c.1436G>A (p.Cys479Tyr)
c.1448G>A (p.Cys483Tyr)
c.1655G>A (p.Cys552Tyr)
n.479-21978C>T
n.563+22342C>T
c.1673G>A (p.Cys558Tyr)
4g.47937047A=CA1455551818CNGA1,NIPAL1c.1435T= (p.Cys479=)
c.1447T= (p.Cys483=)
c.1654T= (p.Cys552=)
n.479-21977A=
n.563+22343A=
c.1672T= (p.Cys558=)
4g.47937047A>CCA356825773CNGA1,NIPAL1c.1435T>G (p.Cys479Gly)
c.1447T>G (p.Cys483Gly)
c.1654T>G (p.Cys552Gly)
n.479-21977A>C
n.563+22343A>C
c.1672T>G (p.Cys558Gly)
4g.47937047A>GCA356825774CNGA1,NIPAL1c.1435T>C (p.Cys479Arg)
c.1447T>C (p.Cys483Arg)
c.1654T>C (p.Cys552Arg)
n.479-21977A>G
n.563+22343A>G
c.1672T>C (p.Cys558Arg)
 ClinVar dbSNP
4g.47937047A>TCA356825775CNGA1,NIPAL1c.1435T>A (p.Cys479Ser)
c.1447T>A (p.Cys483Ser)
c.1654T>A (p.Cys552Ser)
n.479-21977A>T
n.563+22343A>T
c.1672T>A (p.Cys558Ser)
4g.47937048A>CCA356825776CNGA1,NIPAL1c.1434T>G (p.Asp478Glu)
c.1446T>G (p.Asp482Glu)
c.1653T>G (p.Asp551Glu)
n.479-21976A>C
n.563+22344A>C
c.1671T>G (p.Asp557Glu)
 gnomAD v4
4g.47937048A>GCA439404092CNGA1,NIPAL1c.1434T>C (p.Asp478=)
c.1446T>C (p.Asp482=)
c.1653T>C (p.Asp551=)
n.479-21976A>G
n.563+22344A>G
c.1671T>C (p.Asp557=)
4g.47937048A>TCA356825777CNGA1,NIPAL1c.1434T>A (p.Asp478Glu)
c.1446T>A (p.Asp482Glu)
c.1653T>A (p.Asp551Glu)
n.479-21976A>T
n.563+22344A>T
c.1671T>A (p.Asp557Glu)
4g.47937049T>ACA356825779CNGA1,NIPAL1c.1433A>T (p.Asp478Val)
c.1445A>T (p.Asp482Val)
c.1652A>T (p.Asp551Val)
n.479-21975T>A
n.563+22345T>A
c.1670A>T (p.Asp557Val)
4g.47937049T>CCA356825780CNGA1,NIPAL1c.1433A>G (p.Asp478Gly)
c.1445A>G (p.Asp482Gly)
c.1652A>G (p.Asp551Gly)
n.479-21975T>C
n.563+22345T>C
c.1670A>G (p.Asp557Gly)
 gnomAD v4
4g.47937049T>GCA356825778CNGA1,NIPAL1c.1433A>C (p.Asp478Ala)
c.1445A>C (p.Asp482Ala)
c.1652A>C (p.Asp551Ala)
n.479-21975T>G
n.563+22345T>G
c.1670A>C (p.Asp557Ala)
4g.47937050C>ACA356825781CNGA1,NIPAL1c.1432G>T (p.Asp478Tyr)
c.1444G>T (p.Asp482Tyr)
c.1651G>T (p.Asp551Tyr)
n.479-21974C>A
n.563+22346C>A
c.1669G>T (p.Asp557Tyr)
 gnomAD v4
4g.47937050C>GCA356825783CNGA1,NIPAL1c.1432G>C (p.Asp478His)
c.1444G>C (p.Asp482His)
c.1651G>C (p.Asp551His)
n.479-21974C>G
n.563+22346C>G
c.1669G>C (p.Asp557His)
4g.47937050C>TCA356825782CNGA1,NIPAL1c.1432G>A (p.Asp478Asn)
c.1444G>A (p.Asp482Asn)
c.1651G>A (p.Asp551Asn)
n.479-21974C>T
n.563+22346C>T
c.1669G>A (p.Asp557Asn)
4g.47937051A=CA1455551819CNGA1,NIPAL1c.1431T= (p.Ala477=)
c.1443T= (p.Ala481=)
c.1650T= (p.Ala550=)
n.479-21973A=
n.563+22347A=
c.1668T= (p.Ala556=)
4g.47937051A>CCA439404096CNGA1,NIPAL1c.1431T>G (p.Ala477=)
c.1443T>G (p.Ala481=)
c.1650T>G (p.Ala550=)
n.479-21973A>C
n.563+22347A>C
c.1668T>G (p.Ala556=)
4g.47937051A>GCA2911078CNGA1,NIPAL1c.1431T>C (p.Ala477=)
c.1443T>C (p.Ala481=)
c.1650T>C (p.Ala550=)
n.479-21973A>G
n.563+22347A>G
c.1668T>C (p.Ala556=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937051A>TCA439404097CNGA1,NIPAL1c.1431T>A (p.Ala477=)
c.1443T>A (p.Ala481=)
c.1650T>A (p.Ala550=)
n.479-21973A>T
n.563+22347A>T
c.1668T>A (p.Ala556=)
4g.47937052G>ACA2911079CNGA1,NIPAL1c.1430C>T (p.Ala477Val)
c.1442C>T (p.Ala481Val)
c.1649C>T (p.Ala550Val)
n.479-21972G>A
n.563+22348G>A
c.1667C>T (p.Ala556Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937052G>CCA356825784CNGA1,NIPAL1c.1430C>G (p.Ala477Gly)
c.1442C>G (p.Ala481Gly)
c.1649C>G (p.Ala550Gly)
n.479-21972G>C
n.563+22348G>C
c.1667C>G (p.Ala556Gly)
 gnomAD v4
4g.47937052G=CA1455551820CNGA1,NIPAL1c.1430C= (p.Ala477=)
c.1442C= (p.Ala481=)
c.1649C= (p.Ala550=)
n.479-21972G=
n.563+22348G=
c.1667C= (p.Ala556=)
4g.47937052G>TCA356825785CNGA1,NIPAL1c.1430C>A (p.Ala477Asp)
c.1442C>A (p.Ala481Asp)
c.1649C>A (p.Ala550Asp)
n.479-21972G>T
n.563+22348G>T
c.1667C>A (p.Ala556Asp)
4g.47937053delCA2586973854CNGA1,NIPAL1c.1429del (p.Ala477LeufsTer13)
c.1441del (p.Ala481LeufsTer13)
c.1648del (p.Ala550LeufsTer13)
n.479-21971del
n.563+22349del
c.1666del (p.Ala556LeufsTer13)
 ClinVar
4g.47937053C>ACA356825786CNGA1,NIPAL1c.1429G>T (p.Ala477Ser)
c.1441G>T (p.Ala481Ser)
c.1648G>T (p.Ala550Ser)
n.479-21971C>A
n.563+22349C>A
c.1666G>T (p.Ala556Ser)
4g.47937053C=CA1455551821CNGA1,NIPAL1c.1429G= (p.Ala477=)
c.1441G= (p.Ala481=)
c.1648G= (p.Ala550=)
n.479-21971C=
n.563+22349C=
c.1666G= (p.Ala556=)
4g.47937053C>GCA356825787CNGA1,NIPAL1c.1429G>C (p.Ala477Pro)
c.1441G>C (p.Ala481Pro)
c.1648G>C (p.Ala550Pro)
n.479-21971C>G
n.563+22349C>G
c.1666G>C (p.Ala556Pro)
4g.47937053C>TCA356825788CNGA1,NIPAL1c.1429G>A (p.Ala477Thr)
c.1441G>A (p.Ala481Thr)
c.1648G>A (p.Ala550Thr)
n.479-21971C>T
n.563+22349C>T
c.1666G>A (p.Ala556Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47937054A=CA1455551822CNGA1,NIPAL1c.1428T= (p.Phe476=)
c.1440T= (p.Phe480=)
c.1647T= (p.Phe549=)
n.479-21970A=
n.563+22350A=
c.1665T= (p.Phe555=)
4g.47937054A>CCA356825789CNGA1,NIPAL1c.1428T>G (p.Phe476Leu)
c.1440T>G (p.Phe480Leu)
c.1647T>G (p.Phe549Leu)
n.479-21970A>C
n.563+22350A>C
c.1665T>G (p.Phe555Leu)
4g.47937054A>GCA439404099CNGA1,NIPAL1c.1428T>C (p.Phe476=)
c.1440T>C (p.Phe480=)
c.1647T>C (p.Phe549=)
n.479-21970A>G
n.563+22350A>G
c.1665T>C (p.Phe555=)
4g.47937054A>TCA96688638CNGA1,NIPAL1c.1428T>A (p.Phe476Leu)
c.1440T>A (p.Phe480Leu)
c.1647T>A (p.Phe549Leu)
n.479-21970A>T
n.563+22350A>T
c.1665T>A (p.Phe555Leu)
 dbSNP gnomAD v2 gnomAD v4
4g.47937055A>CCA356825790CNGA1,NIPAL1c.1427T>G (p.Phe476Cys)
c.1439T>G (p.Phe480Cys)
c.1646T>G (p.Phe549Cys)
n.479-21969A>C
n.563+22351A>C
c.1664T>G (p.Phe555Cys)
4g.47937055A>GCA356825791CNGA1,NIPAL1c.1427T>C (p.Phe476Ser)
c.1439T>C (p.Phe480Ser)
c.1646T>C (p.Phe549Ser)
n.479-21969A>G
n.563+22351A>G
c.1664T>C (p.Phe555Ser)
4g.47937055A>TCA356825792CNGA1,NIPAL1c.1427T>A (p.Phe476Tyr)
c.1439T>A (p.Phe480Tyr)
c.1646T>A (p.Phe549Tyr)
n.479-21969A>T
n.563+22351A>T
c.1664T>A (p.Phe555Tyr)
4g.47937056A>CCA356825793CNGA1,NIPAL1c.1426T>G (p.Phe476Val)
c.1438T>G (p.Phe480Val)
c.1645T>G (p.Phe549Val)
n.479-21968A>C
n.563+22352A>C
c.1663T>G (p.Phe555Val)
4g.47937056A>GCA356825794CNGA1,NIPAL1c.1426T>C (p.Phe476Leu)
c.1438T>C (p.Phe480Leu)
c.1645T>C (p.Phe549Leu)
n.479-21968A>G
n.563+22352A>G
c.1663T>C (p.Phe555Leu)
4g.47937056A>TCA356825795CNGA1,NIPAL1c.1426T>A (p.Phe476Ile)
c.1438T>A (p.Phe480Ile)
c.1645T>A (p.Phe549Ile)
n.479-21968A>T
n.563+22352A>T
c.1663T>A (p.Phe555Ile)
4g.47937057A>CCA356825796CNGA1,NIPAL1c.1425T>G (p.Ile475Met)
c.1437T>G (p.Ile479Met)
c.1644T>G (p.Ile548Met)
n.479-21967A>C
n.563+22353A>C
c.1662T>G (p.Ile554Met)
4g.47937057A>GCA439404106CNGA1,NIPAL1c.1425T>C (p.Ile475=)
c.1437T>C (p.Ile479=)
c.1644T>C (p.Ile548=)
n.479-21967A>G
n.563+22353A>G
c.1662T>C (p.Ile554=)
4g.47937057A>TCA439404104CNGA1,NIPAL1c.1425T>A (p.Ile475=)
c.1437T>A (p.Ile479=)
c.1644T>A (p.Ile548=)
n.479-21967A>T
n.563+22353A>T
c.1662T>A (p.Ile554=)
4g.47937058A>CCA356825797CNGA1,NIPAL1c.1424T>G (p.Ile475Ser)
c.1436T>G (p.Ile479Ser)
c.1643T>G (p.Ile548Ser)
n.479-21966A>C
n.563+22354A>C
c.1661T>G (p.Ile554Ser)
4g.47937058A>GCA356825799CNGA1,NIPAL1c.1424T>C (p.Ile475Thr)
c.1436T>C (p.Ile479Thr)
c.1643T>C (p.Ile548Thr)
n.479-21966A>G
n.563+22354A>G
c.1661T>C (p.Ile554Thr)
4g.47937058A>TCA356825798CNGA1,NIPAL1c.1424T>A (p.Ile475Asn)
c.1436T>A (p.Ile479Asn)
c.1643T>A (p.Ile548Asn)
n.479-21966A>T
n.563+22354A>T
c.1661T>A (p.Ile554Asn)
4g.47937059T>ACA356825800CNGA1,NIPAL1c.1423A>T (p.Ile475Phe)
c.1435A>T (p.Ile479Phe)
c.1642A>T (p.Ile548Phe)
n.479-21965T>A
n.563+22355T>A
c.1660A>T (p.Ile554Phe)
4g.47937059T>CCA356825801CNGA1,NIPAL1c.1423A>G (p.Ile475Val)
c.1435A>G (p.Ile479Val)
c.1642A>G (p.Ile548Val)
n.479-21965T>C
n.563+22355T>C
c.1660A>G (p.Ile554Val)
4g.47937059T>GCA356825802CNGA1,NIPAL1c.1423A>C (p.Ile475Leu)
c.1435A>C (p.Ile479Leu)
c.1642A>C (p.Ile548Leu)
n.479-21965T>G
n.563+22355T>G
c.1660A>C (p.Ile554Leu)
4g.47937060G>ACA439404111CNGA1,NIPAL1c.1422C>T (p.Arg474=)
c.1434C>T (p.Arg478=)
c.1641C>T (p.Arg547=)
n.479-21964G>A
n.563+22356G>A
c.1659C>T (p.Arg553=)
4g.47937060G>CCA439404113CNGA1,NIPAL1c.1422C>G (p.Arg474=)
c.1434C>G (p.Arg478=)
c.1641C>G (p.Arg547=)
n.479-21964G>C
n.563+22356G>C
c.1659C>G (p.Arg553=)
4g.47937060G>TCA439404115CNGA1,NIPAL1c.1422C>A (p.Arg474=)
c.1434C>A (p.Arg478=)
c.1641C>A (p.Arg547=)
n.479-21964G>T
n.563+22356G>T
c.1659C>A (p.Arg553=)
4g.47937061C>ACA356825803CNGA1,NIPAL1c.1421G>T (p.Arg474Leu)
c.1433G>T (p.Arg478Leu)
c.1640G>T (p.Arg547Leu)
n.479-21963C>A
n.563+22357C>A
c.1658G>T (p.Arg553Leu)
 dbSNP gnomAD v2 gnomAD v4
4g.47937061C=CA1455551823CNGA1,NIPAL1c.1421G= (p.Arg474=)
c.1433G= (p.Arg478=)
c.1640G= (p.Arg547=)
n.479-21963C=
n.563+22357C=
c.1658G= (p.Arg553=)
4g.47937061C>GCA356825804CNGA1,NIPAL1c.1421G>C (p.Arg474Pro)
c.1433G>C (p.Arg478Pro)
c.1640G>C (p.Arg547Pro)
n.479-21963C>G
n.563+22357C>G
c.1658G>C (p.Arg553Pro)
4g.47937061C>TCA349312CNGA1,NIPAL1c.1421G>A (p.Arg474His)
c.1433G>A (p.Arg478His)
c.1640G>A (p.Arg547His)
n.479-21963C>T
n.563+22357C>T
c.1658G>A (p.Arg553His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.47937062G>ACA2911080CNGA1,NIPAL1c.1420C>T (p.Arg474Cys)
c.1432C>T (p.Arg478Cys)
c.1639C>T (p.Arg547Cys)
n.479-21962G>A
n.563+22358G>A
c.1657C>T (p.Arg553Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47937062G>CCA356825805CNGA1,NIPAL1c.1420C>G (p.Arg474Gly)
c.1432C>G (p.Arg478Gly)
c.1639C>G (p.Arg547Gly)
n.479-21962G>C
n.563+22358G>C
c.1657C>G (p.Arg553Gly)
4g.47937062G=CA1455551824CNGA1,NIPAL1c.1420C= (p.Arg474=)
c.1432C= (p.Arg478=)
c.1639C= (p.Arg547=)
n.479-21962G=
n.563+22358G=
c.1657C= (p.Arg553=)
4g.47937062G>TCA356825806CNGA1,NIPAL1c.1420C>A (p.Arg474Ser)
c.1432C>A (p.Arg478Ser)
c.1639C>A (p.Arg547Ser)
n.479-21962G>T
n.563+22358G>T
c.1657C>A (p.Arg553Ser)
4g.47937063T>ACA439404117CNGA1,NIPAL1c.1419A>T (p.Val473=)
c.1431A>T (p.Val477=)
c.1638A>T (p.Val546=)
n.479-21961T>A
n.563+22359T>A
c.1656A>T (p.Val552=)
4g.47937063T>CCA439404118CNGA1,NIPAL1c.1419A>G (p.Val473=)
c.1431A>G (p.Val477=)
c.1638A>G (p.Val546=)
n.479-21961T>C
n.563+22359T>C
c.1656A>G (p.Val552=)
 dbSNP gnomAD v2 gnomAD v4
4g.47937063T>GCA439404119CNGA1,NIPAL1c.1419A>C (p.Val473=)
c.1431A>C (p.Val477=)
c.1638A>C (p.Val546=)
n.479-21961T>G
n.563+22359T>G
c.1656A>C (p.Val552=)
4g.47937063T=CA1455551825CNGA1,NIPAL1c.1419A= (p.Val473=)
c.1431A= (p.Val477=)
c.1638A= (p.Val546=)
n.479-21961T=
n.563+22359T=
c.1656A= (p.Val552=)
4g.47937064A>CCA356825808CNGA1,NIPAL1c.1418T>G (p.Val473Gly)
c.1430T>G (p.Val477Gly)
c.1637T>G (p.Val546Gly)
n.479-21960A>C
n.563+22360A>C
c.1655T>G (p.Val552Gly)
4g.47937064A>GCA356825809CNGA1,NIPAL1c.1418T>C (p.Val473Ala)
c.1430T>C (p.Val477Ala)
c.1637T>C (p.Val546Ala)
n.479-21960A>G
n.563+22360A>G
c.1655T>C (p.Val552Ala)
 COSMIC
4g.47937064A>TCA356825807CNGA1,NIPAL1c.1418T>A (p.Val473Glu)
c.1430T>A (p.Val477Glu)
c.1637T>A (p.Val546Glu)
n.479-21960A>T
n.563+22360A>T
c.1655T>A (p.Val552Glu)
 gnomAD v4
4g.47937064_47937065delinsACCA1455551826CNGA1,NIPAL1c.1417_1418delinsGT (p.Val473=)
c.1429_1430delinsGT (p.Val477=)
c.1636_1637delinsGT (p.Val546=)
n.479-21960_479-21959delinsAC
n.563+22360_563+22361delinsAC
c.1654_1655delinsGT (p.Val552=)
4g.47937065C>ACA356825810CNGA1,NIPAL1c.1417G>T (p.Val473Leu)
c.1429G>T (p.Val477Leu)
c.1636G>T (p.Val546Leu)
n.479-21959C>A
n.563+22361C>A
c.1654G>T (p.Val552Leu)
 gnomAD v4
4g.47937065C>GCA356825811CNGA1,NIPAL1c.1417G>C (p.Val473Leu)
c.1429G>C (p.Val477Leu)
c.1636G>C (p.Val546Leu)
n.479-21959C>G
n.563+22361C>G
c.1654G>C (p.Val552Leu)
 gnomAD v4
4g.47937065C>TCA356825812CNGA1,NIPAL1c.1417G>A (p.Val473Ile)
c.1429G>A (p.Val477Ile)
c.1636G>A (p.Val546Ile)
n.479-21959C>T
n.563+22361C>T
c.1654G>A (p.Val552Ile)
4g.47937066delCA658820612CNGA1,NIPAL1c.1417del (p.Val473TyrfsTer17)
c.1429del (p.Val477TyrfsTer17)
c.1636del (p.Val546TyrfsTer17)
n.479-21958del
n.563+22362del
c.1654del (p.Val552TyrfsTer17)
 ClinVar dbSNP gnomAD v4
4g.47937066C>ACA2911081CNGA1,NIPAL1c.1416G>T (p.Lys472Asn)
c.1428G>T (p.Lys476Asn)
c.1635G>T (p.Lys545Asn)
n.479-21958C>A
n.563+22362C>A
c.1653G>T (p.Lys551Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937066C=CA1455551827CNGA1,NIPAL1c.1416G= (p.Lys472=)
c.1428G= (p.Lys476=)
c.1635G= (p.Lys545=)
n.479-21958C=
n.563+22362C=
c.1653G= (p.Lys551=)
4g.47937066C>GCA2911082CNGA1,NIPAL1c.1416G>C (p.Lys472Asn)
c.1428G>C (p.Lys476Asn)
c.1635G>C (p.Lys545Asn)
n.479-21958C>G
n.563+22362C>G
c.1653G>C (p.Lys551Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937066C>TCA2911083CNGA1,NIPAL1c.1416G>A (p.Lys472=)
c.1428G>A (p.Lys476=)
c.1635G>A (p.Lys545=)
n.479-21958C>T
n.563+22362C>T
c.1653G>A (p.Lys551=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937067T>ACA356825813CNGA1,NIPAL1c.1415A>T (p.Lys472Met)
c.1427A>T (p.Lys476Met)
c.1634A>T (p.Lys545Met)
n.479-21957T>A
n.563+22363T>A
c.1652A>T (p.Lys551Met)
 gnomAD v4
4g.47937067T>CCA356825814CNGA1,NIPAL1c.1415A>G (p.Lys472Arg)
c.1427A>G (p.Lys476Arg)
c.1634A>G (p.Lys545Arg)
n.479-21957T>C
n.563+22363T>C
c.1652A>G (p.Lys551Arg)
4g.47937067T>GCA356825815CNGA1,NIPAL1c.1415A>C (p.Lys472Thr)
c.1427A>C (p.Lys476Thr)
c.1634A>C (p.Lys545Thr)
n.479-21957T>G
n.563+22363T>G
c.1652A>C (p.Lys551Thr)
4g.47937072dupCA2573137699CNGA1,NIPAL1c.1415dup (p.Val473GlyfsTer6)
c.1427dup (p.Val477GlyfsTer6)
c.1634dup (p.Val546GlyfsTer6)
n.479-21952dup
n.563+22368dup
c.1652dup (p.Val552GlyfsTer6)
 ClinVar dbSNP
4g.47937068T>ACA356825816CNGA1,NIPAL1c.1414A>T (p.Lys472Ter)
c.1426A>T (p.Lys476Ter)
c.1633A>T (p.Lys545Ter)
n.479-21956T>A
n.563+22364T>A
c.1651A>T (p.Lys551Ter)
4g.47937068T>CCA356825817CNGA1,NIPAL1c.1414A>G (p.Lys472Glu)
c.1426A>G (p.Lys476Glu)
c.1633A>G (p.Lys545Glu)
n.479-21956T>C
n.563+22364T>C
c.1651A>G (p.Lys551Glu)
4g.47937068T>GCA356825818CNGA1,NIPAL1c.1414A>C (p.Lys472Gln)
c.1426A>C (p.Lys476Gln)
c.1633A>C (p.Lys545Gln)
n.479-21956T>G
n.563+22364T>G
c.1651A>C (p.Lys551Gln)
4g.47937069T>ACA356825820CNGA1,NIPAL1c.1413A>T (p.Lys471Asn)
c.1425A>T (p.Lys475Asn)
c.1632A>T (p.Lys544Asn)
n.479-21955T>A
n.563+22365T>A
c.1650A>T (p.Lys550Asn)
4g.47937069T>CCA439404125CNGA1,NIPAL1c.1413A>G (p.Lys471=)
c.1425A>G (p.Lys475=)
c.1632A>G (p.Lys544=)
n.479-21955T>C
n.563+22365T>C
c.1650A>G (p.Lys550=)
 gnomAD v4
4g.47937069T>GCA356825819CNGA1,NIPAL1c.1413A>C (p.Lys471Asn)
c.1425A>C (p.Lys475Asn)
c.1632A>C (p.Lys544Asn)
n.479-21955T>G
n.563+22365T>G
c.1650A>C (p.Lys550Asn)

Number of alleles fetched