Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
4g.47937070T>ACA356825821CNGA1,NIPAL1c.1412A>T (p.Lys471Ile)
c.1424A>T (p.Lys475Ile)
c.1631A>T (p.Lys544Ile)
n.479-21954T>A
n.563+22366T>A
c.1649A>T (p.Lys550Ile)
4g.47937070T>CCA356825822CNGA1,NIPAL1c.1412A>G (p.Lys471Arg)
c.1424A>G (p.Lys475Arg)
c.1631A>G (p.Lys544Arg)
n.479-21954T>C
n.563+22366T>C
c.1649A>G (p.Lys550Arg)
4g.47937070T>GCA356825823CNGA1,NIPAL1c.1412A>C (p.Lys471Thr)
c.1424A>C (p.Lys475Thr)
c.1631A>C (p.Lys544Thr)
n.479-21954T>G
n.563+22366T>G
c.1649A>C (p.Lys550Thr)
4g.47937071T>ACA356825824CNGA1,NIPAL1c.1411A>T (p.Lys471Ter)
c.1423A>T (p.Lys475Ter)
c.1630A>T (p.Lys544Ter)
n.479-21953T>A
n.563+22367T>A
c.1648A>T (p.Lys550Ter)
4g.47937071T>CCA356825825CNGA1,NIPAL1c.1411A>G (p.Lys471Glu)
c.1423A>G (p.Lys475Glu)
c.1630A>G (p.Lys544Glu)
n.479-21953T>C
n.563+22367T>C
c.1648A>G (p.Lys550Glu)
 gnomAD v4
4g.47937071T>GCA356825826CNGA1,NIPAL1c.1411A>C (p.Lys471Gln)
c.1423A>C (p.Lys475Gln)
c.1630A>C (p.Lys544Gln)
n.479-21953T>G
n.563+22367T>G
c.1648A>C (p.Lys550Gln)
4g.47937072T>ACA356825827CNGA1,NIPAL1c.1410A>T (p.Leu470Phe)
c.1422A>T (p.Leu474Phe)
c.1629A>T (p.Leu543Phe)
n.479-21952T>A
n.563+22368T>A
c.1647A>T (p.Leu549Phe)
 dbSNP
4g.47937072T>CCA439404129CNGA1,NIPAL1c.1410A>G (p.Leu470=)
c.1422A>G (p.Leu474=)
c.1629A>G (p.Leu543=)
n.479-21952T>C
n.563+22368T>C
c.1647A>G (p.Leu549=)
4g.47937072T>GCA356825828CNGA1,NIPAL1c.1410A>C (p.Leu470Phe)
c.1422A>C (p.Leu474Phe)
c.1629A>C (p.Leu543Phe)
n.479-21952T>G
n.563+22368T>G
c.1647A>C (p.Leu549Phe)
4g.47937072T=CA1455551828CNGA1,NIPAL1c.1410A= (p.Leu470=)
c.1422A= (p.Leu474=)
c.1629A= (p.Leu543=)
n.479-21952T=
n.563+22368T=
c.1647A= (p.Leu549=)
4g.47937073A>CCA356825829CNGA1,NIPAL1c.1409T>G (p.Leu470Ter)
c.1421T>G (p.Leu474Ter)
c.1628T>G (p.Leu543Ter)
n.479-21951A>C
n.563+22369A>C
c.1646T>G (p.Leu549Ter)
4g.47937073A>GCA356825830CNGA1,NIPAL1c.1409T>C (p.Leu470Ser)
c.1421T>C (p.Leu474Ser)
c.1628T>C (p.Leu543Ser)
n.479-21951A>G
n.563+22369A>G
c.1646T>C (p.Leu549Ser)
 gnomAD v4
4g.47937073A>TCA356825831CNGA1,NIPAL1c.1409T>A (p.Leu470Ter)
c.1421T>A (p.Leu474Ter)
c.1628T>A (p.Leu543Ter)
n.479-21951A>T
n.563+22369A>T
c.1646T>A (p.Leu549Ter)
4g.47937074A>CCA356825832CNGA1,NIPAL1c.1408T>G (p.Leu470Val)
c.1420T>G (p.Leu474Val)
c.1627T>G (p.Leu543Val)
n.479-21950A>C
n.563+22370A>C
c.1645T>G (p.Leu549Val)
4g.47937074A>GCA439404131CNGA1,NIPAL1c.1408T>C (p.Leu470=)
c.1420T>C (p.Leu474=)
c.1627T>C (p.Leu543=)
n.479-21950A>G
n.563+22370A>G
c.1645T>C (p.Leu549=)
 ClinVar dbSNP gnomAD v4
4g.47937074A>TCA356825833CNGA1,NIPAL1c.1408T>A (p.Leu470Ile)
c.1420T>A (p.Leu474Ile)
c.1627T>A (p.Leu543Ile)
n.479-21950A>T
n.563+22370A>T
c.1645T>A (p.Leu549Ile)
4g.47937075T>ACA439404132CNGA1,NIPAL1c.1407A>T (p.Thr469=)
c.1419A>T (p.Thr473=)
c.1626A>T (p.Thr542=)
n.479-21949T>A
n.563+22371T>A
c.1644A>T (p.Thr548=)
4g.47937075T>CCA2911084CNGA1,NIPAL1c.1407A>G (p.Thr469=)
c.1419A>G (p.Thr473=)
c.1626A>G (p.Thr542=)
n.479-21949T>C
n.563+22371T>C
c.1644A>G (p.Thr548=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937075T>GCA439404133CNGA1,NIPAL1c.1407A>C (p.Thr469=)
c.1419A>C (p.Thr473=)
c.1626A>C (p.Thr542=)
n.479-21949T>G
n.563+22371T>G
c.1644A>C (p.Thr548=)
 ClinVar dbSNP gnomAD v4
4g.47937075T=CA1455551829CNGA1,NIPAL1c.1407A= (p.Thr469=)
c.1419A= (p.Thr473=)
c.1626A= (p.Thr542=)
n.479-21949T=
n.563+22371T=
c.1644A= (p.Thr548=)
4g.47937076G>ACA356825836CNGA1,NIPAL1c.1406C>T (p.Thr469Ile)
c.1418C>T (p.Thr473Ile)
c.1625C>T (p.Thr542Ile)
n.479-21948G>A
n.563+22372G>A
c.1643C>T (p.Thr548Ile)
 gnomAD v4
4g.47937076G>CCA356825835CNGA1,NIPAL1c.1406C>G (p.Thr469Arg)
c.1418C>G (p.Thr473Arg)
c.1625C>G (p.Thr542Arg)
n.479-21948G>C
n.563+22372G>C
c.1643C>G (p.Thr548Arg)
4g.47937076G>TCA356825834CNGA1,NIPAL1c.1406C>A (p.Thr469Lys)
c.1418C>A (p.Thr473Lys)
c.1625C>A (p.Thr542Lys)
n.479-21948G>T
n.563+22372G>T
c.1643C>A (p.Thr548Lys)
4g.47937077T>ACA356825839CNGA1,NIPAL1c.1405A>T (p.Thr469Ser)
c.1417A>T (p.Thr473Ser)
c.1624A>T (p.Thr542Ser)
n.479-21947T>A
n.563+22373T>A
c.1642A>T (p.Thr548Ser)
4g.47937077T>CCA356825837CNGA1,NIPAL1c.1405A>G (p.Thr469Ala)
c.1417A>G (p.Thr473Ala)
c.1624A>G (p.Thr542Ala)
n.479-21947T>C
n.563+22373T>C
c.1642A>G (p.Thr548Ala)
4g.47937077T>GCA356825838CNGA1,NIPAL1c.1405A>C (p.Thr469Pro)
c.1417A>C (p.Thr473Pro)
c.1624A>C (p.Thr542Pro)
n.479-21947T>G
n.563+22373T>G
c.1642A>C (p.Thr548Pro)
4g.47937078G>ACA2911085CNGA1,NIPAL1c.1404C>T (p.Asp468=)
c.1416C>T (p.Asp472=)
c.1623C>T (p.Asp541=)
n.479-21946G>A
n.563+22374G>A
c.1641C>T (p.Asp547=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937078G>CCA356825840CNGA1,NIPAL1c.1404C>G (p.Asp468Glu)
c.1416C>G (p.Asp472Glu)
c.1623C>G (p.Asp541Glu)
n.479-21946G>C
n.563+22374G>C
c.1641C>G (p.Asp547Glu)
4g.47937078G=CA1455551830CNGA1,NIPAL1c.1404C= (p.Asp468=)
c.1416C= (p.Asp472=)
c.1623C= (p.Asp541=)
n.479-21946G=
n.563+22374G=
c.1641C= (p.Asp547=)
4g.47937078G>TCA356825841CNGA1,NIPAL1c.1404C>A (p.Asp468Glu)
c.1416C>A (p.Asp472Glu)
c.1623C>A (p.Asp541Glu)
n.479-21946G>T
n.563+22374G>T
c.1641C>A (p.Asp547Glu)
4g.47937079T>ACA356825842CNGA1,NIPAL1c.1403A>T (p.Asp468Val)
c.1415A>T (p.Asp472Val)
c.1622A>T (p.Asp541Val)
n.479-21945T>A
n.563+22375T>A
c.1640A>T (p.Asp547Val)
4g.47937079T>CCA356825843CNGA1,NIPAL1c.1403A>G (p.Asp468Gly)
c.1415A>G (p.Asp472Gly)
c.1622A>G (p.Asp541Gly)
n.479-21945T>C
n.563+22375T>C
c.1640A>G (p.Asp547Gly)
4g.47937079T>GCA356825844CNGA1,NIPAL1c.1403A>C (p.Asp468Ala)
c.1415A>C (p.Asp472Ala)
c.1622A>C (p.Asp541Ala)
n.479-21945T>G
n.563+22375T>G
c.1640A>C (p.Asp547Ala)
 gnomAD v4
4g.47937080C>ACA356825845CNGA1,NIPAL1c.1402G>T (p.Asp468Tyr)
c.1414G>T (p.Asp472Tyr)
c.1621G>T (p.Asp541Tyr)
n.479-21944C>A
n.563+22376C>A
c.1639G>T (p.Asp547Tyr)
4g.47937080C>GCA356825846CNGA1,NIPAL1c.1402G>C (p.Asp468His)
c.1414G>C (p.Asp472His)
c.1621G>C (p.Asp541His)
n.479-21944C>G
n.563+22376C>G
c.1639G>C (p.Asp547His)
 gnomAD v4 COSMIC
4g.47937080C>TCA356825847CNGA1,NIPAL1c.1402G>A (p.Asp468Asn)
c.1414G>A (p.Asp472Asn)
c.1621G>A (p.Asp541Asn)
n.479-21944C>T
n.563+22376C>T
c.1639G>A (p.Asp547Asn)
4g.47937081T>ACA356825848CNGA1,NIPAL1c.1401A>T (p.Leu467Phe)
c.1413A>T (p.Leu471Phe)
c.1620A>T (p.Leu540Phe)
n.479-21943T>A
n.563+22377T>A
c.1638A>T (p.Leu546Phe)
4g.47937081T>CCA439404136CNGA1,NIPAL1c.1401A>G (p.Leu467=)
c.1413A>G (p.Leu471=)
c.1620A>G (p.Leu540=)
n.479-21943T>C
n.563+22377T>C
c.1638A>G (p.Leu546=)
4g.47937081T>GCA356825849CNGA1,NIPAL1c.1401A>C (p.Leu467Phe)
c.1413A>C (p.Leu471Phe)
c.1620A>C (p.Leu540Phe)
n.479-21943T>G
n.563+22377T>G
c.1638A>C (p.Leu546Phe)
4g.47937082A=CA1455551831CNGA1,NIPAL1c.1400T= (p.Leu467=)
c.1412T= (p.Leu471=)
c.1619T= (p.Leu540=)
n.479-21942A=
n.563+22378A=
c.1637T= (p.Leu546=)
4g.47937082A>CCA356825852CNGA1,NIPAL1c.1400T>G (p.Leu467Ter)
c.1412T>G (p.Leu471Ter)
c.1619T>G (p.Leu540Ter)
n.479-21942A>C
n.563+22378A>C
c.1637T>G (p.Leu546Ter)
4g.47937082A>GCA356825851CNGA1,NIPAL1c.1400T>C (p.Leu467Ser)
c.1412T>C (p.Leu471Ser)
c.1619T>C (p.Leu540Ser)
n.479-21942A>G
n.563+22378A>G
c.1637T>C (p.Leu546Ser)
 ClinVar dbSNP
4g.47937082A>TCA356825850CNGA1,NIPAL1c.1400T>A (p.Leu467Ter)
c.1412T>A (p.Leu471Ter)
c.1619T>A (p.Leu540Ter)
n.479-21942A>T
n.563+22378A>T
c.1637T>A (p.Leu546Ter)
4g.47937083A>CCA356825853CNGA1,NIPAL1c.1399T>G (p.Leu467Val)
c.1411T>G (p.Leu471Val)
c.1618T>G (p.Leu540Val)
n.479-21941A>C
n.563+22379A>C
c.1636T>G (p.Leu546Val)
4g.47937083A>GCA439404139CNGA1,NIPAL1c.1399T>C (p.Leu467=)
c.1411T>C (p.Leu471=)
c.1618T>C (p.Leu540=)
n.479-21941A>G
n.563+22379A>G
c.1636T>C (p.Leu546=)
4g.47937083A>TCA356825854CNGA1,NIPAL1c.1399T>A (p.Leu467Ile)
c.1411T>A (p.Leu471Ile)
c.1618T>A (p.Leu540Ile)
n.479-21941A>T
n.563+22379A>T
c.1636T>A (p.Leu546Ile)
4g.47937084G>ACA439404144CNGA1,NIPAL1c.1398C>T (p.His466=)
c.1410C>T (p.His470=)
c.1617C>T (p.His539=)
n.479-21940G>A
n.563+22380G>A
c.1635C>T (p.His545=)
4g.47937084G>CCA356825855CNGA1,NIPAL1c.1398C>G (p.His466Gln)
c.1410C>G (p.His470Gln)
c.1617C>G (p.His539Gln)
n.479-21940G>C
n.563+22380G>C
c.1635C>G (p.His545Gln)
 dbSNP gnomAD v3 gnomAD v4
4g.47937084G=CA1455551832CNGA1,NIPAL1c.1398C= (p.His466=)
c.1410C= (p.His470=)
c.1617C= (p.His539=)
n.479-21940G=
n.563+22380G=
c.1635C= (p.His545=)
4g.47937084G>TCA356825856CNGA1,NIPAL1c.1398C>A (p.His466Gln)
c.1410C>A (p.His470Gln)
c.1617C>A (p.His539Gln)
n.479-21940G>T
n.563+22380G>T
c.1635C>A (p.His545Gln)
4g.47937085T>ACA356825857CNGA1,NIPAL1c.1397A>T (p.His466Leu)
c.1409A>T (p.His470Leu)
c.1616A>T (p.His539Leu)
n.479-21939T>A
n.563+22381T>A
c.1634A>T (p.His545Leu)
4g.47937085T>CCA356825858CNGA1,NIPAL1c.1397A>G (p.His466Arg)
c.1409A>G (p.His470Arg)
c.1616A>G (p.His539Arg)
n.479-21939T>C
n.563+22381T>C
c.1634A>G (p.His545Arg)
4g.47937085T>GCA356825859CNGA1,NIPAL1c.1397A>C (p.His466Pro)
c.1409A>C (p.His470Pro)
c.1616A>C (p.His539Pro)
n.479-21939T>G
n.563+22381T>G
c.1634A>C (p.His545Pro)
4g.47937086G>ACA356825860CNGA1,NIPAL1c.1396C>T (p.His466Tyr)
c.1408C>T (p.His470Tyr)
c.1615C>T (p.His539Tyr)
n.479-21938G>A
n.563+22382G>A
c.1633C>T (p.His545Tyr)
 dbSNP gnomAD v2 gnomAD v4
4g.47937086G>CCA356825861CNGA1,NIPAL1c.1396C>G (p.His466Asp)
c.1408C>G (p.His470Asp)
c.1615C>G (p.His539Asp)
n.479-21938G>C
n.563+22382G>C
c.1633C>G (p.His545Asp)
4g.47937086G=CA1455551833CNGA1,NIPAL1c.1396C= (p.His466=)
c.1408C= (p.His470=)
c.1615C= (p.His539=)
n.479-21938G=
n.563+22382G=
c.1633C= (p.His545=)
4g.47937086G>TCA356825862CNGA1,NIPAL1c.1396C>A (p.His466Asn)
c.1408C>A (p.His470Asn)
c.1615C>A (p.His539Asn)
n.479-21938G>T
n.563+22382G>T
c.1633C>A (p.His545Asn)
 ClinVar COSMIC
4g.47937087A>CCA439404149CNGA1,NIPAL1c.1395T>G (p.Val465=)
c.1407T>G (p.Val469=)
c.1614T>G (p.Val538=)
n.479-21937A>C
n.563+22383A>C
c.1632T>G (p.Val544=)
4g.47937087A>GCA439404150CNGA1,NIPAL1c.1395T>C (p.Val465=)
c.1407T>C (p.Val469=)
c.1614T>C (p.Val538=)
n.479-21937A>G
n.563+22383A>G
c.1632T>C (p.Val544=)
4g.47937087A>TCA439404151CNGA1,NIPAL1c.1395T>A (p.Val465=)
c.1407T>A (p.Val469=)
c.1614T>A (p.Val538=)
n.479-21937A>T
n.563+22383A>T
c.1632T>A (p.Val544=)
4g.47937088A>CCA356825863CNGA1,NIPAL1c.1394T>G (p.Val465Gly)
c.1406T>G (p.Val469Gly)
c.1613T>G (p.Val538Gly)
n.479-21936A>C
n.563+22384A>C
c.1631T>G (p.Val544Gly)
4g.47937088A>GCA356825864CNGA1,NIPAL1c.1394T>C (p.Val465Ala)
c.1406T>C (p.Val469Ala)
c.1613T>C (p.Val538Ala)
n.479-21936A>G
n.563+22384A>G
c.1631T>C (p.Val544Ala)
 COSMIC COSMIC
4g.47937088A>TCA356825865CNGA1,NIPAL1c.1394T>A (p.Val465Asp)
c.1406T>A (p.Val469Asp)
c.1613T>A (p.Val538Asp)
n.479-21936A>T
n.563+22384A>T
c.1631T>A (p.Val544Asp)
4g.47937089C>ACA96688671CNGA1,NIPAL1c.1393G>T (p.Val465Phe)
c.1405G>T (p.Val469Phe)
c.1612G>T (p.Val538Phe)
n.479-21935C>A
n.563+22385C>A
c.1630G>T (p.Val544Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47937089C=CA1455551834CNGA1,NIPAL1c.1393G= (p.Val465=)
c.1405G= (p.Val469=)
c.1612G= (p.Val538=)
n.479-21935C=
n.563+22385C=
c.1630G= (p.Val544=)
4g.47937089C>GCA356825867CNGA1,NIPAL1c.1393G>C (p.Val465Leu)
c.1405G>C (p.Val469Leu)
c.1612G>C (p.Val538Leu)
n.479-21935C>G
n.563+22385C>G
c.1630G>C (p.Val544Leu)
4g.47937089C>TCA356825866CNGA1,NIPAL1c.1393G>A (p.Val465Ile)
c.1405G>A (p.Val469Ile)
c.1612G>A (p.Val538Ile)
n.479-21935C>T
n.563+22385C>T
c.1630G>A (p.Val544Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47937090G>ACA2911086CNGA1,NIPAL1c.1392C>T (p.Asn464=)
c.1404C>T (p.Asn468=)
c.1611C>T (p.Asn537=)
n.479-21934G>A
n.563+22386G>A
c.1629C>T (p.Asn543=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937090G>CCA356825868CNGA1,NIPAL1c.1392C>G (p.Asn464Lys)
c.1404C>G (p.Asn468Lys)
c.1611C>G (p.Asn537Lys)
n.479-21934G>C
n.563+22386G>C
c.1629C>G (p.Asn543Lys)
 gnomAD v4
4g.47937090G=CA1455551835CNGA1,NIPAL1c.1392C= (p.Asn464=)
c.1404C= (p.Asn468=)
c.1611C= (p.Asn537=)
n.479-21934G=
n.563+22386G=
c.1629C= (p.Asn543=)
4g.47937090G>TCA356825869CNGA1,NIPAL1c.1392C>A (p.Asn464Lys)
c.1404C>A (p.Asn468Lys)
c.1611C>A (p.Asn537Lys)
n.479-21934G>T
n.563+22386G>T
c.1629C>A (p.Asn543Lys)
4g.47937091T>ACA356825870CNGA1,NIPAL1c.1391A>T (p.Asn464Ile)
c.1403A>T (p.Asn468Ile)
c.1610A>T (p.Asn537Ile)
n.479-21933T>A
n.563+22387T>A
c.1628A>T (p.Asn543Ile)
4g.47937091T>CCA2911087CNGA1,NIPAL1c.1391A>G (p.Asn464Ser)
c.1403A>G (p.Asn468Ser)
c.1610A>G (p.Asn537Ser)
n.479-21933T>C
n.563+22387T>C
c.1628A>G (p.Asn543Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937091T>GCA356825871CNGA1,NIPAL1c.1391A>C (p.Asn464Thr)
c.1403A>C (p.Asn468Thr)
c.1610A>C (p.Asn537Thr)
n.479-21933T>G
n.563+22387T>G
c.1628A>C (p.Asn543Thr)
4g.47937091T=CA1455551836CNGA1,NIPAL1c.1391A= (p.Asn464=)
c.1403A= (p.Asn468=)
c.1610A= (p.Asn537=)
n.479-21933T=
n.563+22387T=
c.1628A= (p.Asn543=)
4g.47937092T>ACA356825872CNGA1,NIPAL1c.1390A>T (p.Asn464Tyr)
c.1402A>T (p.Asn468Tyr)
c.1609A>T (p.Asn537Tyr)
n.479-21932T>A
n.563+22388T>A
c.1627A>T (p.Asn543Tyr)
4g.47937092T>CCA356825873CNGA1,NIPAL1c.1390A>G (p.Asn464Asp)
c.1402A>G (p.Asn468Asp)
c.1609A>G (p.Asn537Asp)
n.479-21932T>C
n.563+22388T>C
c.1627A>G (p.Asn543Asp)
4g.47937092T>GCA356825874CNGA1,NIPAL1c.1390A>C (p.Asn464His)
c.1402A>C (p.Asn468His)
c.1609A>C (p.Asn537His)
n.479-21932T>G
n.563+22388T>G
c.1627A>C (p.Asn543His)
 gnomAD v4
4g.47937093G>ACA439404157CNGA1,NIPAL1c.1389C>T (p.Ile463=)
c.1401C>T (p.Ile467=)
c.1608C>T (p.Ile536=)
n.479-21931G>A
n.563+22389G>A
c.1626C>T (p.Ile542=)
 COSMIC
4g.47937093G>CCA356825875CNGA1,NIPAL1c.1389C>G (p.Ile463Met)
c.1401C>G (p.Ile467Met)
c.1608C>G (p.Ile536Met)
n.479-21931G>C
n.563+22389G>C
c.1626C>G (p.Ile542Met)
4g.47937093G>TCA439404158CNGA1,NIPAL1c.1389C>A (p.Ile463=)
c.1401C>A (p.Ile467=)
c.1608C>A (p.Ile536=)
n.479-21931G>T
n.563+22389G>T
c.1626C>A (p.Ile542=)
4g.47937094A>CCA356825876CNGA1,NIPAL1c.1388T>G (p.Ile463Ser)
c.1400T>G (p.Ile467Ser)
c.1607T>G (p.Ile536Ser)
n.479-21930A>C
n.563+22390A>C
c.1625T>G (p.Ile542Ser)
4g.47937094A>GCA356825877CNGA1,NIPAL1c.1388T>C (p.Ile463Thr)
c.1400T>C (p.Ile467Thr)
c.1607T>C (p.Ile536Thr)
n.479-21930A>G
n.563+22390A>G
c.1625T>C (p.Ile542Thr)
4g.47937094A>TCA356825878CNGA1,NIPAL1c.1388T>A (p.Ile463Asn)
c.1400T>A (p.Ile467Asn)
c.1607T>A (p.Ile536Asn)
n.479-21930A>T
n.563+22390A>T
c.1625T>A (p.Ile542Asn)
 COSMIC
4g.47937095T>ACA356825879CNGA1,NIPAL1c.1387A>T (p.Ile463Phe)
c.1399A>T (p.Ile467Phe)
c.1606A>T (p.Ile536Phe)
n.479-21929T>A
n.563+22391T>A
c.1624A>T (p.Ile542Phe)
4g.47937095T>CCA356825881CNGA1,NIPAL1c.1387A>G (p.Ile463Val)
c.1399A>G (p.Ile467Val)
c.1606A>G (p.Ile536Val)
n.479-21929T>C
n.563+22391T>C
c.1624A>G (p.Ile542Val)
 gnomAD v4
4g.47937095T>GCA356825880CNGA1,NIPAL1c.1387A>C (p.Ile463Leu)
c.1399A>C (p.Ile467Leu)
c.1606A>C (p.Ile536Leu)
n.479-21929T>G
n.563+22391T>G
c.1624A>C (p.Ile542Leu)
4g.47937096G>ACA439404162CNGA1,NIPAL1c.1386C>T (p.Ala462=)
c.1398C>T (p.Ala466=)
c.1605C>T (p.Ala535=)
n.479-21928G>A
n.563+22392G>A
c.1623C>T (p.Ala541=)
4g.47937096G>CCA439404164CNGA1,NIPAL1c.1386C>G (p.Ala462=)
c.1398C>G (p.Ala466=)
c.1605C>G (p.Ala535=)
n.479-21928G>C
n.563+22392G>C
c.1623C>G (p.Ala541=)
4g.47937096G>TCA439404165CNGA1,NIPAL1c.1386C>A (p.Ala462=)
c.1398C>A (p.Ala466=)
c.1605C>A (p.Ala535=)
n.479-21928G>T
n.563+22392G>T
c.1623C>A (p.Ala541=)
4g.47937097G>ACA2911088CNGA1,NIPAL1c.1385C>T (p.Ala462Val)
c.1397C>T (p.Ala466Val)
c.1604C>T (p.Ala535Val)
n.479-21927G>A
n.563+22393G>A
c.1622C>T (p.Ala541Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937097G>CCA356825882CNGA1,NIPAL1c.1385C>G (p.Ala462Gly)
c.1397C>G (p.Ala466Gly)
c.1604C>G (p.Ala535Gly)
n.479-21927G>C
n.563+22393G>C
c.1622C>G (p.Ala541Gly)
4g.47937097G=CA1455551837CNGA1,NIPAL1c.1385C= (p.Ala462=)
c.1397C= (p.Ala466=)
c.1604C= (p.Ala535=)
n.479-21927G=
n.563+22393G=
c.1622C= (p.Ala541=)
4g.47937097G>TCA356825883CNGA1,NIPAL1c.1385C>A (p.Ala462Asp)
c.1397C>A (p.Ala466Asp)
c.1604C>A (p.Ala535Asp)
n.479-21927G>T
n.563+22393G>T
c.1622C>A (p.Ala541Asp)
4g.47937098C>ACA356825884CNGA1,NIPAL1c.1384G>T (p.Ala462Ser)
c.1396G>T (p.Ala466Ser)
c.1603G>T (p.Ala535Ser)
n.479-21926C>A
n.563+22394C>A
c.1621G>T (p.Ala541Ser)
4g.47937098C=CA1455551838CNGA1,NIPAL1c.1384G= (p.Ala462=)
c.1396G= (p.Ala466=)
c.1603G= (p.Ala535=)
n.479-21926C=
n.563+22394C=
c.1621G= (p.Ala541=)
4g.47937098C>GCA356825885CNGA1,NIPAL1c.1384G>C (p.Ala462Pro)
c.1396G>C (p.Ala466Pro)
c.1603G>C (p.Ala535Pro)
n.479-21926C>G
n.563+22394C>G
c.1621G>C (p.Ala541Pro)
4g.47937098C>TCA356825886CNGA1,NIPAL1c.1384G>A (p.Ala462Thr)
c.1396G>A (p.Ala466Thr)
c.1603G>A (p.Ala535Thr)
n.479-21926C>T
n.563+22394C>T
c.1621G>A (p.Ala541Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.47937099A>CCA356825887CNGA1,NIPAL1c.1383T>G (p.Ile461Met)
c.1395T>G (p.Ile465Met)
c.1602T>G (p.Ile534Met)
n.479-21925A>C
n.563+22395A>C
c.1620T>G (p.Ile540Met)
 gnomAD v4
4g.47937099A>GCA439404170CNGA1,NIPAL1c.1383T>C (p.Ile461=)
c.1395T>C (p.Ile465=)
c.1602T>C (p.Ile534=)
n.479-21925A>G
n.563+22395A>G
c.1620T>C (p.Ile540=)
4g.47937099A>TCA439404168CNGA1,NIPAL1c.1383T>A (p.Ile461=)
c.1395T>A (p.Ile465=)
c.1602T>A (p.Ile534=)
n.479-21925A>T
n.563+22395A>T
c.1620T>A (p.Ile540=)
4g.47937100A=CA1455551839CNGA1,NIPAL1c.1382T= (p.Ile461=)
c.1394T= (p.Ile465=)
c.1601T= (p.Ile534=)
n.479-21924A=
n.563+22396A=
c.1619T= (p.Ile540=)
4g.47937100A>CCA356825888CNGA1,NIPAL1c.1382T>G (p.Ile461Ser)
c.1394T>G (p.Ile465Ser)
c.1601T>G (p.Ile534Ser)
n.479-21924A>C
n.563+22396A>C
c.1619T>G (p.Ile540Ser)
4g.47937100A>GCA356825889CNGA1,NIPAL1c.1382T>C (p.Ile461Thr)
c.1394T>C (p.Ile465Thr)
c.1601T>C (p.Ile534Thr)
n.479-21924A>G
n.563+22396A>G
c.1619T>C (p.Ile540Thr)
4g.47937100A>TCA356825890CNGA1,NIPAL1c.1382T>A (p.Ile461Asn)
c.1394T>A (p.Ile465Asn)
c.1601T>A (p.Ile534Asn)
n.479-21924A>T
n.563+22396A>T
c.1619T>A (p.Ile540Asn)
 dbSNP
4g.47937101T>ACA356825893CNGA1,NIPAL1c.1381A>T (p.Ile461Phe)
c.1393A>T (p.Ile465Phe)
c.1600A>T (p.Ile534Phe)
n.479-21923T>A
n.563+22397T>A
c.1618A>T (p.Ile540Phe)
4g.47937101T>CCA356825891CNGA1,NIPAL1c.1381A>G (p.Ile461Val)
c.1393A>G (p.Ile465Val)
c.1600A>G (p.Ile534Val)
n.479-21923T>C
n.563+22397T>C
c.1618A>G (p.Ile540Val)
4g.47937101T>GCA356825892CNGA1,NIPAL1c.1381A>C (p.Ile461Leu)
c.1393A>C (p.Ile465Leu)
c.1600A>C (p.Ile534Leu)
n.479-21923T>G
n.563+22397T>G
c.1618A>C (p.Ile540Leu)
4g.47937103dupCA96688693CNGA1,NIPAL1c.1381dup (p.Ile461AsnfsTer18)
c.1393dup (p.Ile465AsnfsTer18)
c.1600dup (p.Ile534AsnfsTer18)
n.479-21921dup
n.563+22399dup
c.1618dup (p.Ile540AsnfsTer18)
 dbSNP
4g.47937102T>ACA356825895CNGA1,NIPAL1c.1380A>T (p.Glu460Asp)
c.1392A>T (p.Glu464Asp)
c.1599A>T (p.Glu533Asp)
n.479-21922T>A
n.563+22398T>A
c.1617A>T (p.Glu539Asp)
4g.47937102T>CCA439404172CNGA1,NIPAL1c.1380A>G (p.Glu460=)
c.1392A>G (p.Glu464=)
c.1599A>G (p.Glu533=)
n.479-21922T>C
n.563+22398T>C
c.1617A>G (p.Glu539=)
 COSMIC
4g.47937102T>GCA356825894CNGA1,NIPAL1c.1380A>C (p.Glu460Asp)
c.1392A>C (p.Glu464Asp)
c.1599A>C (p.Glu533Asp)
n.479-21922T>G
n.563+22398T>G
c.1617A>C (p.Glu539Asp)
4g.47937103T>ACA356825898CNGA1,NIPAL1c.1379A>T (p.Glu460Val)
c.1391A>T (p.Glu464Val)
c.1598A>T (p.Glu533Val)
n.479-21921T>A
n.563+22399T>A
c.1616A>T (p.Glu539Val)
4g.47937103T>CCA356825896CNGA1,NIPAL1c.1379A>G (p.Glu460Gly)
c.1391A>G (p.Glu464Gly)
c.1598A>G (p.Glu533Gly)
n.479-21921T>C
n.563+22399T>C
c.1616A>G (p.Glu539Gly)
4g.47937103T>GCA356825897CNGA1,NIPAL1c.1379A>C (p.Glu460Ala)
c.1391A>C (p.Glu464Ala)
c.1598A>C (p.Glu533Ala)
n.479-21921T>G
n.563+22399T>G
c.1616A>C (p.Glu539Ala)
4g.47937104C>ACA356825899CNGA1,NIPAL1c.1378G>T (p.Glu460Ter)
c.1390G>T (p.Glu464Ter)
c.1597G>T (p.Glu533Ter)
n.479-21920C>A
n.563+22400C>A
c.1615G>T (p.Glu539Ter)
4g.47937104C>GCA356825900CNGA1,NIPAL1c.1378G>C (p.Glu460Gln)
c.1390G>C (p.Glu464Gln)
c.1597G>C (p.Glu533Gln)
n.479-21920C>G
n.563+22400C>G
c.1615G>C (p.Glu539Gln)
4g.47937104C>TCA356825901CNGA1,NIPAL1c.1378G>A (p.Glu460Lys)
c.1390G>A (p.Glu464Lys)
c.1597G>A (p.Glu533Lys)
n.479-21920C>T
n.563+22400C>T
c.1615G>A (p.Glu539Lys)
4g.47937105T>ACA439404174CNGA1,NIPAL1c.1377A>T (p.Ala459=)
c.1389A>T (p.Ala463=)
c.1596A>T (p.Ala532=)
n.479-21919T>A
n.563+22401T>A
c.1614A>T (p.Ala538=)
4g.47937105T>CCA439404175CNGA1,NIPAL1c.1377A>G (p.Ala459=)
c.1389A>G (p.Ala463=)
c.1596A>G (p.Ala532=)
n.479-21919T>C
n.563+22401T>C
c.1614A>G (p.Ala538=)
4g.47937105T>GCA439404176CNGA1,NIPAL1c.1377A>C (p.Ala459=)
c.1389A>C (p.Ala463=)
c.1596A>C (p.Ala532=)
n.479-21919T>G
n.563+22401T>G
c.1614A>C (p.Ala538=)
4g.47937106G>ACA356825902CNGA1,NIPAL1c.1376C>T (p.Ala459Val)
c.1388C>T (p.Ala463Val)
c.1595C>T (p.Ala532Val)
n.479-21918G>A
n.563+22402G>A
c.1613C>T (p.Ala538Val)
4g.47937106G>CCA356825903CNGA1,NIPAL1c.1376C>G (p.Ala459Gly)
c.1388C>G (p.Ala463Gly)
c.1595C>G (p.Ala532Gly)
n.479-21918G>C
n.563+22402G>C
c.1613C>G (p.Ala538Gly)
 COSMIC
4g.47937106G>TCA356825904CNGA1,NIPAL1c.1376C>A (p.Ala459Glu)
c.1388C>A (p.Ala463Glu)
c.1595C>A (p.Ala532Glu)
n.479-21918G>T
n.563+22402G>T
c.1613C>A (p.Ala538Glu)
4g.47937107C>ACA356825905CNGA1,NIPAL1c.1375G>T (p.Ala459Ser)
c.1387G>T (p.Ala463Ser)
c.1594G>T (p.Ala532Ser)
n.479-21917C>A
n.563+22403C>A
c.1612G>T (p.Ala538Ser)
 dbSNP gnomAD v4
4g.47937107C=CA1455551840CNGA1,NIPAL1c.1375G= (p.Ala459=)
c.1387G= (p.Ala463=)
c.1594G= (p.Ala532=)
n.479-21917C=
n.563+22403C=
c.1612G= (p.Ala538=)
4g.47937107C>GCA356825906CNGA1,NIPAL1c.1375G>C (p.Ala459Pro)
c.1387G>C (p.Ala463Pro)
c.1594G>C (p.Ala532Pro)
n.479-21917C>G
n.563+22403C>G
c.1612G>C (p.Ala538Pro)
4g.47937107C>TCA96688705CNGA1,NIPAL1c.1375G>A (p.Ala459Thr)
c.1387G>A (p.Ala463Thr)
c.1594G>A (p.Ala532Thr)
n.479-21917C>T
n.563+22403C>T
c.1612G>A (p.Ala538Thr)
 dbSNP COSMIC
4g.47937108T>ACA356825908CNGA1,NIPAL1c.1374A>T (p.Arg458Ser)
c.1386A>T (p.Arg462Ser)
c.1593A>T (p.Arg531Ser)
n.479-21916T>A
n.563+22404T>A
c.1611A>T (p.Arg537Ser)
4g.47937108T>CCA2911089CNGA1,NIPAL1c.1374A>G (p.Arg458=)
c.1386A>G (p.Arg462=)
c.1593A>G (p.Arg531=)
n.479-21916T>C
n.563+22404T>C
c.1611A>G (p.Arg537=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937108T>GCA356825907CNGA1,NIPAL1c.1374A>C (p.Arg458Ser)
c.1386A>C (p.Arg462Ser)
c.1593A>C (p.Arg531Ser)
n.479-21916T>G
n.563+22404T>G
c.1611A>C (p.Arg537Ser)
4g.47937108T=CA1455551841CNGA1,NIPAL1c.1374A= (p.Arg458=)
c.1386A= (p.Arg462=)
c.1593A= (p.Arg531=)
n.479-21916T=
n.563+22404T=
c.1611A= (p.Arg537=)
4g.47937109C>ACA356825909CNGA1,NIPAL1c.1373G>T (p.Arg458Ile)
c.1385G>T (p.Arg462Ile)
c.1592G>T (p.Arg531Ile)
n.479-21915C>A
n.563+22405C>A
c.1610G>T (p.Arg537Ile)
4g.47937109C>GCA356825910CNGA1,NIPAL1c.1373G>C (p.Arg458Thr)
c.1385G>C (p.Arg462Thr)
c.1592G>C (p.Arg531Thr)
n.479-21915C>G
n.563+22405C>G
c.1610G>C (p.Arg537Thr)
 gnomAD v4
4g.47937109C>TCA356825911CNGA1,NIPAL1c.1373G>A (p.Arg458Lys)
c.1385G>A (p.Arg462Lys)
c.1592G>A (p.Arg531Lys)
n.479-21915C>T
n.563+22405C>T
c.1610G>A (p.Arg537Lys)
4g.47937110T>ACA356825912CNGA1,NIPAL1c.1372A>T (p.Arg458Ter)
c.1384A>T (p.Arg462Ter)
c.1591A>T (p.Arg531Ter)
n.479-21914T>A
n.563+22406T>A
c.1609A>T (p.Arg537Ter)
 ClinVar
4g.47937110T>CCA356825913CNGA1,NIPAL1c.1372A>G (p.Arg458Gly)
c.1384A>G (p.Arg462Gly)
c.1591A>G (p.Arg531Gly)
n.479-21914T>C
n.563+22406T>C
c.1609A>G (p.Arg537Gly)
4g.47937110T>GCA439404180CNGA1,NIPAL1c.1372A>C (p.Arg458=)
c.1384A>C (p.Arg462=)
c.1591A>C (p.Arg531=)
n.479-21914T>G
n.563+22406T>G
c.1609A>C (p.Arg537=)
4g.47937111T>ACA439404181CNGA1,NIPAL1c.1371A>T (p.Leu457=)
c.1383A>T (p.Leu461=)
c.1590A>T (p.Leu530=)
n.479-21913T>A
n.563+22407T>A
c.1608A>T (p.Leu536=)
4g.47937111T>CCA439404183CNGA1,NIPAL1c.1371A>G (p.Leu457=)
c.1383A>G (p.Leu461=)
c.1590A>G (p.Leu530=)
n.479-21913T>C
n.563+22407T>C
c.1608A>G (p.Leu536=)
4g.47937111T>GCA439404182CNGA1,NIPAL1c.1371A>C (p.Leu457=)
c.1383A>C (p.Leu461=)
c.1590A>C (p.Leu530=)
n.479-21913T>G
n.563+22407T>G
c.1608A>C (p.Leu536=)
4g.47937112A>CCA356825914CNGA1,NIPAL1c.1370T>G (p.Leu457Arg)
c.1382T>G (p.Leu461Arg)
c.1589T>G (p.Leu530Arg)
n.479-21912A>C
n.563+22408A>C
c.1607T>G (p.Leu536Arg)
4g.47937112A>GCA356825915CNGA1,NIPAL1c.1370T>C (p.Leu457Pro)
c.1382T>C (p.Leu461Pro)
c.1589T>C (p.Leu530Pro)
n.479-21912A>G
n.563+22408A>G
c.1607T>C (p.Leu536Pro)
4g.47937112A>TCA356825916CNGA1,NIPAL1c.1370T>A (p.Leu457Gln)
c.1382T>A (p.Leu461Gln)
c.1589T>A (p.Leu530Gln)
n.479-21912A>T
n.563+22408A>T
c.1607T>A (p.Leu536Gln)
4g.47937113G>ACA439404187CNGA1,NIPAL1c.1369C>T (p.Leu457=)
c.1381C>T (p.Leu461=)
c.1588C>T (p.Leu530=)
n.479-21911G>A
n.563+22409G>A
c.1606C>T (p.Leu536=)
4g.47937113G>CCA2911090CNGA1,NIPAL1c.1369C>G (p.Leu457Val)
c.1381C>G (p.Leu461Val)
c.1588C>G (p.Leu530Val)
n.479-21911G>C
n.563+22409G>C
c.1606C>G (p.Leu536Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937113G=CA1455551842CNGA1,NIPAL1c.1369C= (p.Leu457=)
c.1381C= (p.Leu461=)
c.1588C= (p.Leu530=)
n.479-21911G=
n.563+22409G=
c.1606C= (p.Leu536=)
4g.47937113G>TCA356825917CNGA1,NIPAL1c.1369C>A (p.Leu457Ile)
c.1381C>A (p.Leu461Ile)
c.1588C>A (p.Leu530Ile)
n.479-21911G>T
n.563+22409G>T
c.1606C>A (p.Leu536Ile)
 gnomAD v4 COSMIC
4g.47937114T>ACA356825918CNGA1,NIPAL1c.1368A>T (p.Lys456Asn)
c.1380A>T (p.Lys460Asn)
c.1587A>T (p.Lys529Asn)
n.479-21910T>A
n.563+22410T>A
c.1605A>T (p.Lys535Asn)
4g.47937114T>CCA439404188CNGA1,NIPAL1c.1368A>G (p.Lys456=)
c.1380A>G (p.Lys460=)
c.1587A>G (p.Lys529=)
n.479-21910T>C
n.563+22410T>C
c.1605A>G (p.Lys535=)
4g.47937114T>GCA356825919CNGA1,NIPAL1c.1368A>C (p.Lys456Asn)
c.1380A>C (p.Lys460Asn)
c.1587A>C (p.Lys529Asn)
n.479-21910T>G
n.563+22410T>G
c.1605A>C (p.Lys535Asn)
4g.47937115T>ACA356825921CNGA1,NIPAL1c.1367A>T (p.Lys456Ile)
c.1379A>T (p.Lys460Ile)
c.1586A>T (p.Lys529Ile)
n.479-21909T>A
n.563+22411T>A
c.1604A>T (p.Lys535Ile)
4g.47937115T>CCA356825922CNGA1,NIPAL1c.1367A>G (p.Lys456Arg)
c.1379A>G (p.Lys460Arg)
c.1586A>G (p.Lys529Arg)
n.479-21909T>C
n.563+22411T>C
c.1604A>G (p.Lys535Arg)
4g.47937115T>GCA356825920CNGA1,NIPAL1c.1367A>C (p.Lys456Thr)
c.1379A>C (p.Lys460Thr)
c.1586A>C (p.Lys529Thr)
n.479-21909T>G
n.563+22411T>G
c.1604A>C (p.Lys535Thr)
4g.47937116T>ACA356825923CNGA1,NIPAL1c.1366A>T (p.Lys456Ter)
c.1378A>T (p.Lys460Ter)
c.1585A>T (p.Lys529Ter)
n.479-21908T>A
n.563+22412T>A
c.1603A>T (p.Lys535Ter)
4g.47937116T>CCA356825924CNGA1,NIPAL1c.1366A>G (p.Lys456Glu)
c.1378A>G (p.Lys460Glu)
c.1585A>G (p.Lys529Glu)
n.479-21908T>C
n.563+22412T>C
c.1603A>G (p.Lys535Glu)
 gnomAD v4
4g.47937116T>GCA356825925CNGA1,NIPAL1c.1366A>C (p.Lys456Gln)
c.1378A>C (p.Lys460Gln)
c.1585A>C (p.Lys529Gln)
n.479-21908T>G
n.563+22412T>G
c.1603A>C (p.Lys535Gln)
4g.47937117A=CA1455551843CNGA1,NIPAL1c.1365T= (p.Asp455=)
c.1377T= (p.Asp459=)
c.1584T= (p.Asp528=)
n.479-21907A=
n.563+22413A=
c.1602T= (p.Asp534=)
4g.47937117A>CCA356825926CNGA1,NIPAL1c.1365T>G (p.Asp455Glu)
c.1377T>G (p.Asp459Glu)
c.1584T>G (p.Asp528Glu)
n.479-21907A>C
n.563+22413A>C
c.1602T>G (p.Asp534Glu)
4g.47937117A>GCA2911091CNGA1,NIPAL1c.1365T>C (p.Asp455=)
c.1377T>C (p.Asp459=)
c.1584T>C (p.Asp528=)
n.479-21907A>G
n.563+22413A>G
c.1602T>C (p.Asp534=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937117A>TCA356825927CNGA1,NIPAL1c.1365T>A (p.Asp455Glu)
c.1377T>A (p.Asp459Glu)
c.1584T>A (p.Asp528Glu)
n.479-21907A>T
n.563+22413A>T
c.1602T>A (p.Asp534Glu)
 dbSNP gnomAD v4
4g.47937118T>ACA356825928CNGA1,NIPAL1c.1364A>T (p.Asp455Val)
c.1376A>T (p.Asp459Val)
c.1583A>T (p.Asp528Val)
n.479-21906T>A
n.563+22414T>A
c.1601A>T (p.Asp534Val)
4g.47937118T>CCA356825929CNGA1,NIPAL1c.1364A>G (p.Asp455Gly)
c.1376A>G (p.Asp459Gly)
c.1583A>G (p.Asp528Gly)
n.479-21906T>C
n.563+22414T>C
c.1601A>G (p.Asp534Gly)
4g.47937118T>GCA356825930CNGA1,NIPAL1c.1364A>C (p.Asp455Ala)
c.1376A>C (p.Asp459Ala)
c.1583A>C (p.Asp528Ala)
n.479-21906T>G
n.563+22414T>G
c.1601A>C (p.Asp534Ala)
4g.47937119C>ACA356825931CNGA1,NIPAL1c.1363G>T (p.Asp455Tyr)
c.1375G>T (p.Asp459Tyr)
c.1582G>T (p.Asp528Tyr)
n.479-21905C>A
n.563+22415C>A
c.1600G>T (p.Asp534Tyr)
4g.47937119C>GCA356825932CNGA1,NIPAL1c.1363G>C (p.Asp455His)
c.1375G>C (p.Asp459His)
c.1582G>C (p.Asp528His)
n.479-21905C>G
n.563+22415C>G
c.1600G>C (p.Asp534His)
4g.47937119C>TCA356825933CNGA1,NIPAL1c.1363G>A (p.Asp455Asn)
c.1375G>A (p.Asp459Asn)
c.1582G>A (p.Asp528Asn)
n.479-21905C>T
n.563+22415C>T
c.1600G>A (p.Asp534Asn)
 COSMIC COSMIC
4g.47937120A>CCA439404193CNGA1,NIPAL1c.1362T>G (p.Pro454=)
c.1374T>G (p.Pro458=)
c.1581T>G (p.Pro527=)
n.479-21904A>C
n.563+22416A>C
c.1599T>G (p.Pro533=)
4g.47937120A>GCA439404194CNGA1,NIPAL1c.1362T>C (p.Pro454=)
c.1374T>C (p.Pro458=)
c.1581T>C (p.Pro527=)
n.479-21904A>G
n.563+22416A>G
c.1599T>C (p.Pro533=)
 gnomAD v4
4g.47937120A>TCA439404195CNGA1,NIPAL1c.1362T>A (p.Pro454=)
c.1374T>A (p.Pro458=)
c.1581T>A (p.Pro527=)
n.479-21904A>T
n.563+22416A>T
c.1599T>A (p.Pro533=)
4g.47937121G>ACA356825935CNGA1,NIPAL1c.1361C>T (p.Pro454Leu)
c.1373C>T (p.Pro458Leu)
c.1580C>T (p.Pro527Leu)
n.479-21903G>A
n.563+22417G>A
c.1598C>T (p.Pro533Leu)
4g.47937121G>CCA356825936CNGA1,NIPAL1c.1361C>G (p.Pro454Arg)
c.1373C>G (p.Pro458Arg)
c.1580C>G (p.Pro527Arg)
n.479-21903G>C
n.563+22417G>C
c.1598C>G (p.Pro533Arg)
4g.47937121G>TCA356825934CNGA1,NIPAL1c.1361C>A (p.Pro454His)
c.1373C>A (p.Pro458His)
c.1580C>A (p.Pro527His)
n.479-21903G>T
n.563+22417G>T
c.1598C>A (p.Pro533His)
4g.47937122G>ACA356825937CNGA1,NIPAL1c.1360C>T (p.Pro454Ser)
c.1372C>T (p.Pro458Ser)
c.1579C>T (p.Pro527Ser)
n.479-21902G>A
n.563+22418G>A
c.1597C>T (p.Pro533Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.47937122G>CCA356825938CNGA1,NIPAL1c.1360C>G (p.Pro454Ala)
c.1372C>G (p.Pro458Ala)
c.1579C>G (p.Pro527Ala)
n.479-21902G>C
n.563+22418G>C
c.1597C>G (p.Pro533Ala)
4g.47937122G=CA1455551844CNGA1,NIPAL1c.1360C= (p.Pro454=)
c.1372C= (p.Pro458=)
c.1579C= (p.Pro527=)
n.479-21902G=
n.563+22418G=
c.1597C= (p.Pro533=)
4g.47937122G>TCA356825939CNGA1,NIPAL1c.1360C>A (p.Pro454Thr)
c.1372C>A (p.Pro458Thr)
c.1579C>A (p.Pro527Thr)
n.479-21902G>T
n.563+22418G>T
c.1597C>A (p.Pro533Thr)
4g.47937123T>ACA439404199CNGA1,NIPAL1c.1359A>T (p.Leu453=)
c.1371A>T (p.Leu457=)
c.1578A>T (p.Leu526=)
n.479-21901T>A
n.563+22419T>A
c.1596A>T (p.Leu532=)
4g.47937123T>CCA439404201CNGA1,NIPAL1c.1359A>G (p.Leu453=)
c.1371A>G (p.Leu457=)
c.1578A>G (p.Leu526=)
n.479-21901T>C
n.563+22419T>C
c.1596A>G (p.Leu532=)
4g.47937123T>GCA439404202CNGA1,NIPAL1c.1359A>C (p.Leu453=)
c.1371A>C (p.Leu457=)
c.1578A>C (p.Leu526=)
n.479-21901T>G
n.563+22419T>G
c.1596A>C (p.Leu532=)
4g.47937124A>CCA356825940CNGA1,NIPAL1c.1358T>G (p.Leu453Arg)
c.1370T>G (p.Leu457Arg)
c.1577T>G (p.Leu526Arg)
n.479-21900A>C
n.563+22420A>C
c.1595T>G (p.Leu532Arg)
4g.47937124A>GCA356825941CNGA1,NIPAL1c.1358T>C (p.Leu453Pro)
c.1370T>C (p.Leu457Pro)
c.1577T>C (p.Leu526Pro)
n.479-21900A>G
n.563+22420A>G
c.1595T>C (p.Leu532Pro)
4g.47937124A>TCA356825942CNGA1,NIPAL1c.1358T>A (p.Leu453Gln)
c.1370T>A (p.Leu457Gln)
c.1577T>A (p.Leu526Gln)
n.479-21900A>T
n.563+22420A>T
c.1595T>A (p.Leu532Gln)
4g.47937125G>ACA439404203CNGA1,NIPAL1c.1357C>T (p.Leu453=)
c.1369C>T (p.Leu457=)
c.1576C>T (p.Leu526=)
n.479-21899G>A
n.563+22421G>A
c.1594C>T (p.Leu532=)
4g.47937125G>CCA356825943CNGA1,NIPAL1c.1357C>G (p.Leu453Val)
c.1369C>G (p.Leu457Val)
c.1576C>G (p.Leu526Val)
n.479-21899G>C
n.563+22421G>C
c.1594C>G (p.Leu532Val)
4g.47937125G>TCA356825944CNGA1,NIPAL1c.1357C>A (p.Leu453Ile)
c.1369C>A (p.Leu457Ile)
c.1576C>A (p.Leu526Ile)
n.479-21899G>T
n.563+22421G>T
c.1594C>A (p.Leu532Ile)
4g.47937126A=CA1455551845CNGA1,NIPAL1c.1356T= (p.Tyr452=)
c.1368T= (p.Tyr456=)
c.1575T= (p.Tyr525=)
n.479-21898A=
n.563+22422A=
c.1593T= (p.Tyr531=)
4g.47937126A>CCA356825945CNGA1,NIPAL1c.1356T>G (p.Tyr452Ter)
c.1368T>G (p.Tyr456Ter)
c.1575T>G (p.Tyr525Ter)
n.479-21898A>C
n.563+22422A>C
c.1593T>G (p.Tyr531Ter)
4g.47937126A>GCA439404205CNGA1,NIPAL1c.1356T>C (p.Tyr452=)
c.1368T>C (p.Tyr456=)
c.1575T>C (p.Tyr525=)
n.479-21898A>G
n.563+22422A>G
c.1593T>C (p.Tyr531=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47937126A>TCA356825946CNGA1,NIPAL1c.1356T>A (p.Tyr452Ter)
c.1368T>A (p.Tyr456Ter)
c.1575T>A (p.Tyr525Ter)
n.479-21898A>T
n.563+22422A>T
c.1593T>A (p.Tyr531Ter)
4g.47937127T>ACA356825947CNGA1,NIPAL1c.1355A>T (p.Tyr452Phe)
c.1367A>T (p.Tyr456Phe)
c.1574A>T (p.Tyr525Phe)
n.479-21897T>A
n.563+22423T>A
c.1592A>T (p.Tyr531Phe)
4g.47937127T>CCA356825948CNGA1,NIPAL1c.1355A>G (p.Tyr452Cys)
c.1367A>G (p.Tyr456Cys)
c.1574A>G (p.Tyr525Cys)
n.479-21897T>C
n.563+22423T>C
c.1592A>G (p.Tyr531Cys)
4g.47937127T>GCA356825949CNGA1,NIPAL1c.1355A>C (p.Tyr452Ser)
c.1367A>C (p.Tyr456Ser)
c.1574A>C (p.Tyr525Ser)
n.479-21897T>G
n.563+22423T>G
c.1592A>C (p.Tyr531Ser)
4g.47937128A=CA1455551846CNGA1,NIPAL1c.1354T= (p.Tyr452=)
c.1366T= (p.Tyr456=)
c.1573T= (p.Tyr525=)
n.479-21896A=
n.563+22424A=
c.1591T= (p.Tyr531=)
4g.47937128A>CCA356825952CNGA1,NIPAL1c.1354T>G (p.Tyr452Asp)
c.1366T>G (p.Tyr456Asp)
c.1573T>G (p.Tyr525Asp)
n.479-21896A>C
n.563+22424A>C
c.1591T>G (p.Tyr531Asp)
4g.47937128A>GCA356825951CNGA1,NIPAL1c.1354T>C (p.Tyr452His)
c.1366T>C (p.Tyr456His)
c.1573T>C (p.Tyr525His)
n.479-21896A>G
n.563+22424A>G
c.1591T>C (p.Tyr531His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.47937128A>TCA356825950CNGA1,NIPAL1c.1354T>A (p.Tyr452Asn)
c.1366T>A (p.Tyr456Asn)
c.1573T>A (p.Tyr525Asn)
n.479-21896A>T
n.563+22424A>T
c.1591T>A (p.Tyr531Asn)
4g.47937128dupCA2578081539CNGA1,NIPAL1c.1354dup (p.Tyr452LeufsTer4)
c.1366dup (p.Tyr456LeufsTer4)
c.1573dup (p.Tyr525LeufsTer4)
n.479-21896dup
n.563+22424dup
c.1591dup (p.Tyr531LeufsTer4)
4g.47937129C>ACA356825953CNGA1,NIPAL1c.1353G>T (p.Lys451Asn)
c.1365G>T (p.Lys455Asn)
c.1572G>T (p.Lys524Asn)
n.479-21895C>A
n.563+22425C>A
c.1590G>T (p.Lys530Asn)
4g.47937129C>GCA356825954CNGA1,NIPAL1c.1353G>C (p.Lys451Asn)
c.1365G>C (p.Lys455Asn)
c.1572G>C (p.Lys524Asn)
n.479-21895C>G
n.563+22425C>G
c.1590G>C (p.Lys530Asn)
4g.47937129C>TCA439404207CNGA1,NIPAL1c.1353G>A (p.Lys451=)
c.1365G>A (p.Lys455=)
c.1572G>A (p.Lys524=)
n.479-21895C>T
n.563+22425C>T
c.1590G>A (p.Lys530=)
 gnomAD v4
4g.47937130T>ACA356825955CNGA1,NIPAL1c.1352A>T (p.Lys451Met)
c.1364A>T (p.Lys455Met)
c.1571A>T (p.Lys524Met)
n.479-21894T>A
n.563+22426T>A
c.1589A>T (p.Lys530Met)
4g.47937130T>CCA356825956CNGA1,NIPAL1c.1352A>G (p.Lys451Arg)
c.1364A>G (p.Lys455Arg)
c.1571A>G (p.Lys524Arg)
n.479-21894T>C
n.563+22426T>C
c.1589A>G (p.Lys530Arg)
4g.47937130T>GCA356825957CNGA1,NIPAL1c.1352A>C (p.Lys451Thr)
c.1364A>C (p.Lys455Thr)
c.1571A>C (p.Lys524Thr)
n.479-21894T>G
n.563+22426T>G
c.1589A>C (p.Lys530Thr)
4g.47937131T>ACA356825958CNGA1,NIPAL1c.1351A>T (p.Lys451Ter)
c.1363A>T (p.Lys455Ter)
c.1570A>T (p.Lys524Ter)
n.479-21893T>A
n.563+22427T>A
c.1588A>T (p.Lys530Ter)
4g.47937131T>CCA356825959CNGA1,NIPAL1c.1351A>G (p.Lys451Glu)
c.1363A>G (p.Lys455Glu)
c.1570A>G (p.Lys524Glu)
n.479-21893T>C
n.563+22427T>C
c.1588A>G (p.Lys530Glu)
4g.47937131T>GCA356825960CNGA1,NIPAL1c.1351A>C (p.Lys451Gln)
c.1363A>C (p.Lys455Gln)
c.1570A>C (p.Lys524Gln)
n.479-21893T>G
n.563+22427T>G
c.1588A>C (p.Lys530Gln)

Number of alleles fetched