Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.47936864A>CCA356824871CNGA1,NIPAL1c.1618T>G (p.Phe540Val)
c.1630T>G (p.Phe544Val)
c.1837T>G (p.Phe613Val)
n.479-22160A>C
n.563+22160A>C
c.1855T>G (p.Phe619Val)
4g.47936864A>GCA356824872CNGA1,NIPAL1c.1618T>C (p.Phe540Leu)
c.1630T>C (p.Phe544Leu)
c.1837T>C (p.Phe613Leu)
n.479-22160A>G
n.563+22160A>G
c.1855T>C (p.Phe619Leu)
4g.47936864A>TCA356824874CNGA1,NIPAL1c.1618T>A (p.Phe540Ile)
c.1630T>A (p.Phe544Ile)
c.1837T>A (p.Phe613Ile)
n.479-22160A>T
n.563+22160A>T
c.1855T>A (p.Phe619Ile)
4g.47936865G>ACA439404134CNGA1,NIPAL1c.1617C>T (p.Tyr539=)
c.1629C>T (p.Tyr543=)
c.1836C>T (p.Tyr612=)
n.479-22159G>A
n.563+22161G>A
c.1854C>T (p.Tyr618=)
 gnomAD v4
4g.47936865G>CCA356824877CNGA1,NIPAL1c.1617C>G (p.Tyr539Ter)
c.1629C>G (p.Tyr543Ter)
c.1836C>G (p.Tyr612Ter)
n.479-22159G>C
n.563+22161G>C
c.1854C>G (p.Tyr618Ter)
 ClinVar dbSNP
4g.47936865G=CA1455551743CNGA1,NIPAL1c.1617C= (p.Tyr539=)
c.1629C= (p.Tyr543=)
c.1836C= (p.Tyr612=)
n.479-22159G=
n.563+22161G=
c.1854C= (p.Tyr618=)
4g.47936865G>TCA356824880CNGA1,NIPAL1c.1617C>A (p.Tyr539Ter)
c.1629C>A (p.Tyr543Ter)
c.1836C>A (p.Tyr612Ter)
n.479-22159G>T
n.563+22161G>T
c.1854C>A (p.Tyr618Ter)
4g.47936866T>ACA356824888CNGA1,NIPAL1c.1616A>T (p.Tyr539Phe)
c.1628A>T (p.Tyr543Phe)
c.1835A>T (p.Tyr612Phe)
n.479-22158T>A
n.563+22162T>A
c.1853A>T (p.Tyr618Phe)
4g.47936866T>CCA356824883CNGA1,NIPAL1c.1616A>G (p.Tyr539Cys)
c.1628A>G (p.Tyr543Cys)
c.1835A>G (p.Tyr612Cys)
n.479-22158T>C
n.563+22162T>C
c.1853A>G (p.Tyr618Cys)
4g.47936866T>GCA356824885CNGA1,NIPAL1c.1616A>C (p.Tyr539Ser)
c.1628A>C (p.Tyr543Ser)
c.1835A>C (p.Tyr612Ser)
n.479-22158T>G
n.563+22162T>G
c.1853A>C (p.Tyr618Ser)
4g.47936867A>CCA356824891CNGA1,NIPAL1c.1615T>G (p.Tyr539Asp)
c.1627T>G (p.Tyr543Asp)
c.1834T>G (p.Tyr612Asp)
n.479-22157A>C
n.563+22163A>C
c.1852T>G (p.Tyr618Asp)
4g.47936867A>GCA356824893CNGA1,NIPAL1c.1615T>C (p.Tyr539His)
c.1627T>C (p.Tyr543His)
c.1834T>C (p.Tyr612His)
n.479-22157A>G
n.563+22163A>G
c.1852T>C (p.Tyr618His)
4g.47936867A>TCA356824895CNGA1,NIPAL1c.1615T>A (p.Tyr539Asn)
c.1627T>A (p.Tyr543Asn)
c.1834T>A (p.Tyr612Asn)
n.479-22157A>T
n.563+22163A>T
c.1852T>A (p.Tyr618Asn)
4g.47936868G>ACA439404137CNGA1,NIPAL1c.1614C>T (p.Ser538=)
c.1626C>T (p.Ser542=)
c.1833C>T (p.Ser611=)
n.479-22156G>A
n.563+22164G>A
c.1851C>T (p.Ser617=)
 dbSNP
4g.47936868G>CCA356824897CNGA1,NIPAL1c.1614C>G (p.Ser538Arg)
c.1626C>G (p.Ser542Arg)
c.1833C>G (p.Ser611Arg)
n.479-22156G>C
n.563+22164G>C
c.1851C>G (p.Ser617Arg)
4g.47936868G=CA1455551744CNGA1,NIPAL1c.1614C= (p.Ser538=)
c.1626C= (p.Ser542=)
c.1833C= (p.Ser611=)
n.479-22156G=
n.563+22164G=
c.1851C= (p.Ser617=)
4g.47936868G>TCA356824900CNGA1,NIPAL1c.1614C>A (p.Ser538Arg)
c.1626C>A (p.Ser542Arg)
c.1833C>A (p.Ser611Arg)
n.479-22156G>T
n.563+22164G>T
c.1851C>A (p.Ser617Arg)
4g.47936869C>ACA356824905CNGA1,NIPAL1c.1613G>T (p.Ser538Ile)
c.1625G>T (p.Ser542Ile)
c.1832G>T (p.Ser611Ile)
n.479-22155C>A
n.563+22165C>A
c.1850G>T (p.Ser617Ile)
4g.47936869C>GCA356824908CNGA1,NIPAL1c.1613G>C (p.Ser538Thr)
c.1625G>C (p.Ser542Thr)
c.1832G>C (p.Ser611Thr)
n.479-22155C>G
n.563+22165C>G
c.1850G>C (p.Ser617Thr)
4g.47936869C>TCA356824909CNGA1,NIPAL1c.1613G>A (p.Ser538Asn)
c.1625G>A (p.Ser542Asn)
c.1832G>A (p.Ser611Asn)
n.479-22155C>T
n.563+22165C>T
c.1850G>A (p.Ser617Asn)
 gnomAD v4
4g.47936870T>ACA356824914CNGA1,NIPAL1c.1612A>T (p.Ser538Cys)
c.1624A>T (p.Ser542Cys)
c.1831A>T (p.Ser611Cys)
n.479-22154T>A
n.563+22166T>A
c.1849A>T (p.Ser617Cys)
4g.47936870T>CCA356824916CNGA1,NIPAL1c.1612A>G (p.Ser538Gly)
c.1624A>G (p.Ser542Gly)
c.1831A>G (p.Ser611Gly)
n.479-22154T>C
n.563+22166T>C
c.1849A>G (p.Ser617Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.47936870T>GCA356824919CNGA1,NIPAL1c.1612A>C (p.Ser538Arg)
c.1624A>C (p.Ser542Arg)
c.1831A>C (p.Ser611Arg)
n.479-22154T>G
n.563+22166T>G
c.1849A>C (p.Ser617Arg)
4g.47936870T=CA1455551745CNGA1,NIPAL1c.1612A= (p.Ser538=)
c.1624A= (p.Ser542=)
c.1831A= (p.Ser611=)
n.479-22154T=
n.563+22166T=
c.1849A= (p.Ser617=)
4g.47936871G>ACA439404140CNGA1,NIPAL1c.1611C>T (p.Gly537=)
c.1623C>T (p.Gly541=)
c.1830C>T (p.Gly610=)
n.479-22153G>A
n.563+22167G>A
c.1848C>T (p.Gly616=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936871G>CCA439404141CNGA1,NIPAL1c.1611C>G (p.Gly537=)
c.1623C>G (p.Gly541=)
c.1830C>G (p.Gly610=)
n.479-22153G>C
n.563+22167G>C
c.1848C>G (p.Gly616=)
4g.47936871G=CA1455551746CNGA1,NIPAL1c.1611C= (p.Gly537=)
c.1623C= (p.Gly541=)
c.1830C= (p.Gly610=)
n.479-22153G=
n.563+22167G=
c.1848C= (p.Gly616=)
4g.47936871G>TCA439404145CNGA1,NIPAL1c.1611C>A (p.Gly537=)
c.1623C>A (p.Gly541=)
c.1830C>A (p.Gly610=)
n.479-22153G>T
n.563+22167G>T
c.1848C>A (p.Gly616=)
4g.47936872C>ACA356824923CNGA1,NIPAL1c.1610G>T (p.Gly537Val)
c.1622G>T (p.Gly541Val)
c.1829G>T (p.Gly610Val)
n.479-22152C>A
n.563+22168C>A
c.1847G>T (p.Gly616Val)
4g.47936872C>GCA356824925CNGA1,NIPAL1c.1610G>C (p.Gly537Ala)
c.1622G>C (p.Gly541Ala)
c.1829G>C (p.Gly610Ala)
n.479-22152C>G
n.563+22168C>G
c.1847G>C (p.Gly616Ala)
4g.47936872C>TCA356824927CNGA1,NIPAL1c.1610G>A (p.Gly537Asp)
c.1622G>A (p.Gly541Asp)
c.1829G>A (p.Gly610Asp)
n.479-22152C>T
n.563+22168C>T
c.1847G>A (p.Gly616Asp)
4g.47936873C>ACA356824934CNGA1,NIPAL1c.1609G>T (p.Gly537Cys)
c.1621G>T (p.Gly541Cys)
c.1828G>T (p.Gly610Cys)
n.479-22151C>A
n.563+22169C>A
c.1846G>T (p.Gly616Cys)
4g.47936873C>GCA356824932CNGA1,NIPAL1c.1609G>C (p.Gly537Arg)
c.1621G>C (p.Gly541Arg)
c.1828G>C (p.Gly610Arg)
n.479-22151C>G
n.563+22169C>G
c.1846G>C (p.Gly616Arg)
 gnomAD v4
4g.47936873C>TCA356824930CNGA1,NIPAL1c.1609G>A (p.Gly537Ser)
c.1621G>A (p.Gly541Ser)
c.1828G>A (p.Gly610Ser)
n.479-22151C>T
n.563+22169C>T
c.1846G>A (p.Gly616Ser)
4g.47936874A=CA1455551747CNGA1,NIPAL1c.1608T= (p.Asp536=)
c.1620T= (p.Asp540=)
c.1827T= (p.Asp609=)
n.479-22150A=
n.563+22170A=
c.1845T= (p.Asp615=)
4g.47936874A>CCA356824937CNGA1,NIPAL1c.1608T>G (p.Asp536Glu)
c.1620T>G (p.Asp540Glu)
c.1827T>G (p.Asp609Glu)
n.479-22150A>C
n.563+22170A>C
c.1845T>G (p.Asp615Glu)
4g.47936874A>GCA439404147CNGA1,NIPAL1c.1608T>C (p.Asp536=)
c.1620T>C (p.Asp540=)
c.1827T>C (p.Asp609=)
n.479-22150A>G
n.563+22170A>G
c.1845T>C (p.Asp615=)
 dbSNP
4g.47936874A>TCA356824939CNGA1,NIPAL1c.1608T>A (p.Asp536Glu)
c.1620T>A (p.Asp540Glu)
c.1827T>A (p.Asp609Glu)
n.479-22150A>T
n.563+22170A>T
c.1845T>A (p.Asp615Glu)
4g.47936875T>ACA356824941CNGA1,NIPAL1c.1607A>T (p.Asp536Val)
c.1619A>T (p.Asp540Val)
c.1826A>T (p.Asp609Val)
n.479-22149T>A
n.563+22171T>A
c.1844A>T (p.Asp615Val)
4g.47936875T>CCA356824943CNGA1,NIPAL1c.1607A>G (p.Asp536Gly)
c.1619A>G (p.Asp540Gly)
c.1826A>G (p.Asp609Gly)
n.479-22149T>C
n.563+22171T>C
c.1844A>G (p.Asp615Gly)
 dbSNP
4g.47936875T>GCA356824945CNGA1,NIPAL1c.1607A>C (p.Asp536Ala)
c.1619A>C (p.Asp540Ala)
c.1826A>C (p.Asp609Ala)
n.479-22149T>G
n.563+22171T>G
c.1844A>C (p.Asp615Ala)
4g.47936876C>ACA356824947CNGA1,NIPAL1c.1606G>T (p.Asp536Tyr)
c.1618G>T (p.Asp540Tyr)
c.1825G>T (p.Asp609Tyr)
n.479-22148C>A
n.563+22172C>A
c.1843G>T (p.Asp615Tyr)
 dbSNP
4g.47936876C=CA1455551748CNGA1,NIPAL1c.1606G= (p.Asp536=)
c.1618G= (p.Asp540=)
c.1825G= (p.Asp609=)
n.479-22148C=
n.563+22172C=
c.1843G= (p.Asp615=)
4g.47936876C>GCA356824949CNGA1,NIPAL1c.1606G>C (p.Asp536His)
c.1618G>C (p.Asp540His)
c.1825G>C (p.Asp609His)
n.479-22148C>G
n.563+22172C>G
c.1843G>C (p.Asp615His)
 dbSNP
4g.47936876C>TCA2911042CNGA1,NIPAL1c.1606G>A (p.Asp536Asn)
c.1618G>A (p.Asp540Asn)
c.1825G>A (p.Asp609Asn)
n.479-22148C>T
n.563+22172C>T
c.1843G>A (p.Asp615Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47936876_47936882delCA2529342764CNGA1,NIPAL1c.1600_1606del (p.Leu534MetfsTer?)
c.1612_1618del (p.Leu538MetfsTer?)
c.1819_1825del (p.Leu607MetfsTer?)
n.479-22148_479-22142del
n.563+22172_563+22178del
c.1837_1843del (p.Leu613MetfsTer?)
4g.47936877G>ACA2911043CNGA1,NIPAL1c.1605C>T (p.Ser535=)
c.1617C>T (p.Ser539=)
c.1824C>T (p.Ser608=)
n.479-22147G>A
n.563+22173G>A
c.1842C>T (p.Ser614=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936877G>CCA356824954CNGA1,NIPAL1c.1605C>G (p.Ser535Arg)
c.1617C>G (p.Ser539Arg)
c.1824C>G (p.Ser608Arg)
n.479-22147G>C
n.563+22173G>C
c.1842C>G (p.Ser614Arg)
4g.47936877G=CA1455551749CNGA1,NIPAL1c.1605C= (p.Ser535=)
c.1617C= (p.Ser539=)
c.1824C= (p.Ser608=)
n.479-22147G=
n.563+22173G=
c.1842C= (p.Ser614=)
4g.47936877G>TCA356824956CNGA1,NIPAL1c.1605C>A (p.Ser535Arg)
c.1617C>A (p.Ser539Arg)
c.1824C>A (p.Ser608Arg)
n.479-22147G>T
n.563+22173G>T
c.1842C>A (p.Ser614Arg)
4g.47936878C>ACA356824959CNGA1,NIPAL1c.1604G>T (p.Ser535Ile)
c.1616G>T (p.Ser539Ile)
c.1823G>T (p.Ser608Ile)
n.479-22146C>A
n.563+22174C>A
c.1841G>T (p.Ser614Ile)
4g.47936878C=CA1455551750CNGA1,NIPAL1c.1604G= (p.Ser535=)
c.1616G= (p.Ser539=)
c.1823G= (p.Ser608=)
n.479-22146C=
n.563+22174C=
c.1841G= (p.Ser614=)
4g.47936878C>GCA356824961CNGA1,NIPAL1c.1604G>C (p.Ser535Thr)
c.1616G>C (p.Ser539Thr)
c.1823G>C (p.Ser608Thr)
n.479-22146C>G
n.563+22174C>G
c.1841G>C (p.Ser614Thr)
4g.47936878C>TCA356824962CNGA1,NIPAL1c.1604G>A (p.Ser535Asn)
c.1616G>A (p.Ser539Asn)
c.1823G>A (p.Ser608Asn)
n.479-22146C>T
n.563+22174C>T
c.1841G>A (p.Ser614Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.47936879T>ACA356824966CNGA1,NIPAL1c.1603A>T (p.Ser535Cys)
c.1615A>T (p.Ser539Cys)
c.1822A>T (p.Ser608Cys)
n.479-22145T>A
n.563+22175T>A
c.1840A>T (p.Ser614Cys)
4g.47936879T>CCA356824967CNGA1,NIPAL1c.1603A>G (p.Ser535Gly)
c.1615A>G (p.Ser539Gly)
c.1822A>G (p.Ser608Gly)
n.479-22145T>C
n.563+22175T>C
c.1840A>G (p.Ser614Gly)
 gnomAD v4
4g.47936879T>GCA356824964CNGA1,NIPAL1c.1603A>C (p.Ser535Arg)
c.1615A>C (p.Ser539Arg)
c.1822A>C (p.Ser608Arg)
n.479-22145T>G
n.563+22175T>G
c.1840A>C (p.Ser614Arg)
4g.47936880C>ACA356824969CNGA1,NIPAL1c.1602G>T (p.Leu534Phe)
c.1614G>T (p.Leu538Phe)
c.1821G>T (p.Leu607Phe)
n.479-22144C>A
n.563+22176C>A
c.1839G>T (p.Leu613Phe)
4g.47936880C=CA1455551751CNGA1,NIPAL1c.1602G= (p.Leu534=)
c.1614G= (p.Leu538=)
c.1821G= (p.Leu607=)
n.479-22144C=
n.563+22176C=
c.1839G= (p.Leu613=)
4g.47936880C>GCA2911045CNGA1,NIPAL1c.1602G>C (p.Leu534Phe)
c.1614G>C (p.Leu538Phe)
c.1821G>C (p.Leu607Phe)
n.479-22144C>G
n.563+22176C>G
c.1839G>C (p.Leu613Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936880C>TCA2911044CNGA1,NIPAL1c.1602G>A (p.Leu534=)
c.1614G>A (p.Leu538=)
c.1821G>A (p.Leu607=)
n.479-22144C>T
n.563+22176C>T
c.1839G>A (p.Leu613=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936881A=CA1455551752CNGA1,NIPAL1c.1601T= (p.Leu534=)
c.1613T= (p.Leu538=)
c.1820T= (p.Leu607=)
n.479-22143A=
n.563+22177A=
c.1838T= (p.Leu613=)
4g.47936881A>CCA356824971CNGA1,NIPAL1c.1601T>G (p.Leu534Trp)
c.1613T>G (p.Leu538Trp)
c.1820T>G (p.Leu607Trp)
n.479-22143A>C
n.563+22177A>C
c.1838T>G (p.Leu613Trp)
4g.47936881A>GCA2911046CNGA1,NIPAL1c.1601T>C (p.Leu534Ser)
c.1613T>C (p.Leu538Ser)
c.1820T>C (p.Leu607Ser)
n.479-22143A>G
n.563+22177A>G
c.1838T>C (p.Leu613Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936881A>TCA356824974CNGA1,NIPAL1c.1601T>A (p.Leu534Ter)
c.1613T>A (p.Leu538Ter)
c.1820T>A (p.Leu607Ter)
n.479-22143A>T
n.563+22177A>T
c.1838T>A (p.Leu613Ter)
4g.47936882A=CA1455551753CNGA1,NIPAL1c.1600T= (p.Leu534=)
c.1612T= (p.Leu538=)
c.1819T= (p.Leu607=)
n.479-22142A=
n.563+22178A=
c.1837T= (p.Leu613=)
4g.47936882A>CCA356824977CNGA1,NIPAL1c.1600T>G (p.Leu534Val)
c.1612T>G (p.Leu538Val)
c.1819T>G (p.Leu607Val)
n.479-22142A>C
n.563+22178A>C
c.1837T>G (p.Leu613Val)
4g.47936882A>GCA2911047CNGA1,NIPAL1c.1600T>C (p.Leu534=)
c.1612T>C (p.Leu538=)
c.1819T>C (p.Leu607=)
n.479-22142A>G
n.563+22178A>G
c.1837T>C (p.Leu613=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936882A>TCA356824979CNGA1,NIPAL1c.1600T>A (p.Leu534Met)
c.1612T>A (p.Leu538Met)
c.1819T>A (p.Leu607Met)
n.479-22142A>T
n.563+22178A>T
c.1837T>A (p.Leu613Met)
4g.47936883T>ACA439404160CNGA1,NIPAL1c.1599A>T (p.Val533=)
c.1611A>T (p.Val537=)
c.1818A>T (p.Val606=)
n.479-22141T>A
n.563+22179T>A
c.1836A>T (p.Val612=)
4g.47936883T>CCA439404163CNGA1,NIPAL1c.1599A>G (p.Val533=)
c.1611A>G (p.Val537=)
c.1818A>G (p.Val606=)
n.479-22141T>C
n.563+22179T>C
c.1836A>G (p.Val612=)
4g.47936883T>GCA439404161CNGA1,NIPAL1c.1599A>C (p.Val533=)
c.1611A>C (p.Val537=)
c.1818A>C (p.Val606=)
n.479-22141T>G
n.563+22179T>G
c.1836A>C (p.Val612=)
4g.47936884A>CCA356824983CNGA1,NIPAL1c.1598T>G (p.Val533Gly)
c.1610T>G (p.Val537Gly)
c.1817T>G (p.Val606Gly)
n.479-22140A>C
n.563+22180A>C
c.1835T>G (p.Val612Gly)
4g.47936884A>GCA356824985CNGA1,NIPAL1c.1598T>C (p.Val533Ala)
c.1610T>C (p.Val537Ala)
c.1817T>C (p.Val606Ala)
n.479-22140A>G
n.563+22180A>G
c.1835T>C (p.Val612Ala)
4g.47936884A>TCA356824988CNGA1,NIPAL1c.1598T>A (p.Val533Glu)
c.1610T>A (p.Val537Glu)
c.1817T>A (p.Val606Glu)
n.479-22140A>T
n.563+22180A>T
c.1835T>A (p.Val612Glu)
4g.47936885C>ACA2911048CNGA1,NIPAL1c.1597G>T (p.Val533Leu)
c.1609G>T (p.Val537Leu)
c.1816G>T (p.Val606Leu)
n.479-22139C>A
n.563+22181C>A
c.1834G>T (p.Val612Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936885C=CA1455551754CNGA1,NIPAL1c.1597G= (p.Val533=)
c.1609G= (p.Val537=)
c.1816G= (p.Val606=)
n.479-22139C=
n.563+22181C=
c.1834G= (p.Val612=)
4g.47936885C>GCA356824992CNGA1,NIPAL1c.1597G>C (p.Val533Leu)
c.1609G>C (p.Val537Leu)
c.1816G>C (p.Val606Leu)
n.479-22139C>G
n.563+22181C>G
c.1834G>C (p.Val612Leu)
4g.47936885C>TCA356824990CNGA1,NIPAL1c.1597G>A (p.Val533Ile)
c.1609G>A (p.Val537Ile)
c.1816G>A (p.Val606Ile)
n.479-22139C>T
n.563+22181C>T
c.1834G>A (p.Val612Ile)
 dbSNP
4g.47936886delCA2670552346CNGA1,NIPAL1c.1597del (p.Val533TyrfsTer2)
c.1609del (p.Val537TyrfsTer2)
c.1816del (p.Val606TyrfsTer2)
n.479-22138del
n.563+22182del
c.1834del (p.Val612TyrfsTer2)
 gnomAD v4
4g.47936886C>ACA439404166CNGA1,NIPAL1c.1596G>T (p.Val532=)
c.1608G>T (p.Val536=)
c.1815G>T (p.Val605=)
n.479-22138C>A
n.563+22182C>A
c.1833G>T (p.Val611=)
4g.47936886C=CA1455551755CNGA1,NIPAL1c.1596G= (p.Val532=)
c.1608G= (p.Val536=)
c.1815G= (p.Val605=)
n.479-22138C=
n.563+22182C=
c.1833G= (p.Val611=)
4g.47936886C>GCA439404167CNGA1,NIPAL1c.1596G>C (p.Val532=)
c.1608G>C (p.Val536=)
c.1815G>C (p.Val605=)
n.479-22138C>G
n.563+22182C>G
c.1833G>C (p.Val611=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936886C>TCA439404169CNGA1,NIPAL1c.1596G>A (p.Val532=)
c.1608G>A (p.Val536=)
c.1815G>A (p.Val605=)
n.479-22138C>T
n.563+22182C>T
c.1833G>A (p.Val611=)
 ClinVar gnomAD v4
4g.47936887A>CCA356824996CNGA1,NIPAL1c.1595T>G (p.Val532Gly)
c.1607T>G (p.Val536Gly)
c.1814T>G (p.Val605Gly)
n.479-22137A>C
n.563+22183A>C
c.1832T>G (p.Val611Gly)
4g.47936887A>GCA356824997CNGA1,NIPAL1c.1595T>C (p.Val532Ala)
c.1607T>C (p.Val536Ala)
c.1814T>C (p.Val605Ala)
n.479-22137A>G
n.563+22183A>G
c.1832T>C (p.Val611Ala)
4g.47936887A>TCA356825000CNGA1,NIPAL1c.1595T>A (p.Val532Glu)
c.1607T>A (p.Val536Glu)
c.1814T>A (p.Val605Glu)
n.479-22137A>T
n.563+22183A>T
c.1832T>A (p.Val611Glu)
4g.47936887_47936888insAAGCA2512346352CNGA1,NIPAL1c.1594_1595insCTT (p.Val532delinsAlaLeu)
c.1606_1607insCTT (p.Val536delinsAlaLeu)
c.1813_1814insCTT (p.Val605delinsAlaLeu)
n.479-22137_479-22136insAAG
n.563+22183_563+22184insAAG
c.1831_1832insCTT (p.Val611delinsAlaLeu)
4g.47936888C>ACA356825002CNGA1,NIPAL1c.1594G>T (p.Val532Leu)
c.1606G>T (p.Val536Leu)
c.1813G>T (p.Val605Leu)
n.479-22136C>A
n.563+22184C>A
c.1831G>T (p.Val611Leu)
4g.47936888C>GCA356825004CNGA1,NIPAL1c.1594G>C (p.Val532Leu)
c.1606G>C (p.Val536Leu)
c.1813G>C (p.Val605Leu)
n.479-22136C>G
n.563+22184C>G
c.1831G>C (p.Val611Leu)
4g.47936888C>TCA356825005CNGA1,NIPAL1c.1594G>A (p.Val532Met)
c.1606G>A (p.Val536Met)
c.1813G>A (p.Val605Met)
n.479-22136C>T
n.563+22184C>T
c.1831G>A (p.Val611Met)
4g.47936889A=CA1455551756CNGA1,NIPAL1c.1593T= (p.Phe531=)
c.1605T= (p.Phe535=)
c.1812T= (p.Phe604=)
n.479-22135A=
n.563+22185A=
c.1830T= (p.Phe610=)
4g.47936889A>CCA356825007CNGA1,NIPAL1c.1593T>G (p.Phe531Leu)
c.1605T>G (p.Phe535Leu)
c.1812T>G (p.Phe604Leu)
n.479-22135A>C
n.563+22185A>C
c.1830T>G (p.Phe610Leu)
4g.47936889A>GCA2911049CNGA1,NIPAL1c.1593T>C (p.Phe531=)
c.1605T>C (p.Phe535=)
c.1812T>C (p.Phe604=)
n.479-22135A>G
n.563+22185A>G
c.1830T>C (p.Phe610=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936889A>TCA356825010CNGA1,NIPAL1c.1593T>A (p.Phe531Leu)
c.1605T>A (p.Phe535Leu)
c.1812T>A (p.Phe604Leu)
n.479-22135A>T
n.563+22185A>T
c.1830T>A (p.Phe610Leu)
4g.47936890A>CCA356825013CNGA1,NIPAL1c.1592T>G (p.Phe531Cys)
c.1604T>G (p.Phe535Cys)
c.1811T>G (p.Phe604Cys)
n.479-22134A>C
n.563+22186A>C
c.1829T>G (p.Phe610Cys)
4g.47936890A>GCA356825015CNGA1,NIPAL1c.1592T>C (p.Phe531Ser)
c.1604T>C (p.Phe535Ser)
c.1811T>C (p.Phe604Ser)
n.479-22134A>G
n.563+22186A>G
c.1829T>C (p.Phe610Ser)
4g.47936890A>TCA356825017CNGA1,NIPAL1c.1592T>A (p.Phe531Tyr)
c.1604T>A (p.Phe535Tyr)
c.1811T>A (p.Phe604Tyr)
n.479-22134A>T
n.563+22186A>T
c.1829T>A (p.Phe610Tyr)
4g.47936891A>CCA356825023CNGA1,NIPAL1c.1591T>G (p.Phe531Val)
c.1603T>G (p.Phe535Val)
c.1810T>G (p.Phe604Val)
n.479-22133A>C
n.563+22187A>C
c.1828T>G (p.Phe610Val)
4g.47936891A>GCA356825020CNGA1,NIPAL1c.1591T>C (p.Phe531Leu)
c.1603T>C (p.Phe535Leu)
c.1810T>C (p.Phe604Leu)
n.479-22133A>G
n.563+22187A>G
c.1828T>C (p.Phe610Leu)
4g.47936891A>TCA356825022CNGA1,NIPAL1c.1591T>A (p.Phe531Ile)
c.1603T>A (p.Phe535Ile)
c.1810T>A (p.Phe604Ile)
n.479-22133A>T
n.563+22187A>T
c.1828T>A (p.Phe610Ile)
4g.47936892C>ACA356825025CNGA1,NIPAL1c.1590G>T (p.Gln530His)
c.1602G>T (p.Gln534His)
c.1809G>T (p.Gln603His)
n.479-22132C>A
n.563+22188C>A
c.1827G>T (p.Gln609His)
4g.47936892C=CA1455551757CNGA1,NIPAL1c.1590G= (p.Gln530=)
c.1602G= (p.Gln534=)
c.1809G= (p.Gln603=)
n.479-22132C=
n.563+22188C=
c.1827G= (p.Gln609=)
4g.47936892C>GCA356825029CNGA1,NIPAL1c.1590G>C (p.Gln530His)
c.1602G>C (p.Gln534His)
c.1809G>C (p.Gln603His)
n.479-22132C>G
n.563+22188C>G
c.1827G>C (p.Gln609His)
4g.47936892C>TCA2911050CNGA1,NIPAL1c.1590G>A (p.Gln530=)
c.1602G>A (p.Gln534=)
c.1809G>A (p.Gln603=)
n.479-22132C>T
n.563+22188C>T
c.1827G>A (p.Gln609=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936893T>ACA356825032CNGA1,NIPAL1c.1589A>T (p.Gln530Leu)
c.1601A>T (p.Gln534Leu)
c.1808A>T (p.Gln603Leu)
n.479-22131T>A
n.563+22189T>A
c.1826A>T (p.Gln609Leu)
4g.47936893T>CCA356825034CNGA1,NIPAL1c.1589A>G (p.Gln530Arg)
c.1601A>G (p.Gln534Arg)
c.1808A>G (p.Gln603Arg)
n.479-22131T>C
n.563+22189T>C
c.1826A>G (p.Gln609Arg)
4g.47936893T>GCA356825035CNGA1,NIPAL1c.1589A>C (p.Gln530Pro)
c.1601A>C (p.Gln534Pro)
c.1808A>C (p.Gln603Pro)
n.479-22131T>G
n.563+22189T>G
c.1826A>C (p.Gln609Pro)
4g.47936894G>ACA356825038CNGA1,NIPAL1c.1588C>T (p.Gln530Ter)
c.1600C>T (p.Gln534Ter)
c.1807C>T (p.Gln603Ter)
n.479-22130G>A
n.563+22190G>A
c.1825C>T (p.Gln609Ter)
4g.47936894G>CCA356825039CNGA1,NIPAL1c.1588C>G (p.Gln530Glu)
c.1600C>G (p.Gln534Glu)
c.1807C>G (p.Gln603Glu)
n.479-22130G>C
n.563+22190G>C
c.1825C>G (p.Gln609Glu)
4g.47936894G>TCA356825041CNGA1,NIPAL1c.1588C>A (p.Gln530Lys)
c.1600C>A (p.Gln534Lys)
c.1807C>A (p.Gln603Lys)
n.479-22130G>T
n.563+22190G>T
c.1825C>A (p.Gln609Lys)
4g.47936895A>CCA439403787CNGA1,NIPAL1c.1587T>G (p.Thr529=)
c.1599T>G (p.Thr533=)
c.1806T>G (p.Thr602=)
n.479-22129A>C
n.563+22191A>C
c.1824T>G (p.Thr608=)
4g.47936895A>GCA439403788CNGA1,NIPAL1c.1587T>C (p.Thr529=)
c.1599T>C (p.Thr533=)
c.1806T>C (p.Thr602=)
n.479-22129A>G
n.563+22191A>G
c.1824T>C (p.Thr608=)
4g.47936895A>TCA439403789CNGA1,NIPAL1c.1587T>A (p.Thr529=)
c.1599T>A (p.Thr533=)
c.1806T>A (p.Thr602=)
n.479-22129A>T
n.563+22191A>T
c.1824T>A (p.Thr608=)
4g.47936896G>ACA356825048CNGA1,NIPAL1c.1586C>T (p.Thr529Ile)
c.1598C>T (p.Thr533Ile)
c.1805C>T (p.Thr602Ile)
n.479-22128G>A
n.563+22192G>A
c.1823C>T (p.Thr608Ile)
4g.47936896G>CCA356825046CNGA1,NIPAL1c.1586C>G (p.Thr529Ser)
c.1598C>G (p.Thr533Ser)
c.1805C>G (p.Thr602Ser)
n.479-22128G>C
n.563+22192G>C
c.1823C>G (p.Thr608Ser)
4g.47936896G>TCA356825044CNGA1,NIPAL1c.1586C>A (p.Thr529Asn)
c.1598C>A (p.Thr533Asn)
c.1805C>A (p.Thr602Asn)
n.479-22128G>T
n.563+22192G>T
c.1823C>A (p.Thr608Asn)
4g.47936897T>ACA356825051CNGA1,NIPAL1c.1585A>T (p.Thr529Ser)
c.1597A>T (p.Thr533Ser)
c.1804A>T (p.Thr602Ser)
n.479-22127T>A
n.563+22193T>A
c.1822A>T (p.Thr608Ser)
4g.47936897T>CCA356825053CNGA1,NIPAL1c.1585A>G (p.Thr529Ala)
c.1597A>G (p.Thr533Ala)
c.1804A>G (p.Thr602Ala)
n.479-22127T>C
n.563+22193T>C
c.1822A>G (p.Thr608Ala)
 gnomAD v4
4g.47936897T>GCA356825054CNGA1,NIPAL1c.1585A>C (p.Thr529Pro)
c.1597A>C (p.Thr533Pro)
c.1804A>C (p.Thr602Pro)
n.479-22127T>G
n.563+22193T>G
c.1822A>C (p.Thr608Pro)
4g.47936898G>ACA439403790CNGA1,NIPAL1c.1584C>T (p.Val528=)
c.1596C>T (p.Val532=)
c.1803C>T (p.Val601=)
n.479-22126G>A
n.563+22194G>A
c.1821C>T (p.Val607=)
4g.47936898G>CCA439403792CNGA1,NIPAL1c.1584C>G (p.Val528=)
c.1596C>G (p.Val532=)
c.1803C>G (p.Val601=)
n.479-22126G>C
n.563+22194G>C
c.1821C>G (p.Val607=)
4g.47936898G>TCA439403791CNGA1,NIPAL1c.1584C>A (p.Val528=)
c.1596C>A (p.Val532=)
c.1803C>A (p.Val601=)
n.479-22126G>T
n.563+22194G>T
c.1821C>A (p.Val607=)
4g.47936899A=CA1455551758CNGA1,NIPAL1c.1583T= (p.Val528=)
c.1595T= (p.Val532=)
c.1802T= (p.Val601=)
n.479-22125A=
n.563+22195A=
c.1820T= (p.Val607=)
4g.47936899A>CCA356825057CNGA1,NIPAL1c.1583T>G (p.Val528Gly)
c.1595T>G (p.Val532Gly)
c.1802T>G (p.Val601Gly)
n.479-22125A>C
n.563+22195A>C
c.1820T>G (p.Val607Gly)
4g.47936899A>GCA356825059CNGA1,NIPAL1c.1583T>C (p.Val528Ala)
c.1595T>C (p.Val532Ala)
c.1802T>C (p.Val601Ala)
n.479-22125A>G
n.563+22195A>G
c.1820T>C (p.Val607Ala)
4g.47936899A>TCA2911051CNGA1,NIPAL1c.1583T>A (p.Val528Asp)
c.1595T>A (p.Val532Asp)
c.1802T>A (p.Val601Asp)
n.479-22125A>T
n.563+22195A>T
c.1820T>A (p.Val607Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936900C>ACA96688437CNGA1,NIPAL1c.1582G>T (p.Val528Phe)
c.1594G>T (p.Val532Phe)
c.1801G>T (p.Val601Phe)
n.479-22124C>A
n.563+22196C>A
c.1819G>T (p.Val607Phe)
 dbSNP gnomAD v4
4g.47936900C=CA1455551759CNGA1,NIPAL1c.1582G= (p.Val528=)
c.1594G= (p.Val532=)
c.1801G= (p.Val601=)
n.479-22124C=
n.563+22196C=
c.1819G= (p.Val607=)
4g.47936900C>GCA356825065CNGA1,NIPAL1c.1582G>C (p.Val528Leu)
c.1594G>C (p.Val532Leu)
c.1801G>C (p.Val601Leu)
n.479-22124C>G
n.563+22196C>G
c.1819G>C (p.Val607Leu)
4g.47936900C>TCA96688450CNGA1,NIPAL1c.1582G>A (p.Val528Ile)
c.1594G>A (p.Val532Ile)
c.1801G>A (p.Val601Ile)
n.479-22124C>T
n.563+22196C>T
c.1819G>A (p.Val607Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936901T>ACA439403793CNGA1,NIPAL1c.1581A>T (p.Gly527=)
c.1593A>T (p.Gly531=)
c.1800A>T (p.Gly600=)
n.479-22123T>A
n.563+22197T>A
c.1818A>T (p.Gly606=)
4g.47936901T>CCA439403794CNGA1,NIPAL1c.1581A>G (p.Gly527=)
c.1593A>G (p.Gly531=)
c.1800A>G (p.Gly600=)
n.479-22123T>C
n.563+22197T>C
c.1818A>G (p.Gly606=)
4g.47936901T>GCA439403795CNGA1,NIPAL1c.1581A>C (p.Gly527=)
c.1593A>C (p.Gly531=)
c.1800A>C (p.Gly600=)
n.479-22123T>G
n.563+22197T>G
c.1818A>C (p.Gly606=)
4g.47936902C>ACA356825068CNGA1,NIPAL1c.1580G>T (p.Gly527Val)
c.1592G>T (p.Gly531Val)
c.1799G>T (p.Gly600Val)
n.479-22122C>A
n.563+22198C>A
c.1817G>T (p.Gly606Val)
 ClinVar dbSNP gnomAD v4
4g.47936902C=CA1455551760CNGA1,NIPAL1c.1580G= (p.Gly527=)
c.1592G= (p.Gly531=)
c.1799G= (p.Gly600=)
n.479-22122C=
n.563+22198C=
c.1817G= (p.Gly606=)
4g.47936902C>GCA356825070CNGA1,NIPAL1c.1580G>C (p.Gly527Ala)
c.1592G>C (p.Gly531Ala)
c.1799G>C (p.Gly600Ala)
n.479-22122C>G
n.563+22198C>G
c.1817G>C (p.Gly606Ala)
 gnomAD v4
4g.47936902C>TCA356825072CNGA1,NIPAL1c.1580G>A (p.Gly527Glu)
c.1592G>A (p.Gly531Glu)
c.1799G>A (p.Gly600Glu)
n.479-22122C>T
n.563+22198C>T
c.1817G>A (p.Gly606Glu)
4g.47936903C>ACA356825075CNGA1,NIPAL1c.1579G>T (p.Gly527Ter)
c.1591G>T (p.Gly531Ter)
c.1798G>T (p.Gly600Ter)
n.479-22121C>A
n.563+22199C>A
c.1816G>T (p.Gly606Ter)
4g.47936903C=CA1455551761CNGA1,NIPAL1c.1579G= (p.Gly527=)
c.1591G= (p.Gly531=)
c.1798G= (p.Gly600=)
n.479-22121C=
n.563+22199C=
c.1816G= (p.Gly606=)
4g.47936903C>GCA356825076CNGA1,NIPAL1c.1579G>C (p.Gly527Arg)
c.1591G>C (p.Gly531Arg)
c.1798G>C (p.Gly600Arg)
n.479-22121C>G
n.563+22199C>G
c.1816G>C (p.Gly606Arg)
4g.47936903C>TCA356825078CNGA1,NIPAL1c.1579G>A (p.Gly527Arg)
c.1591G>A (p.Gly531Arg)
c.1798G>A (p.Gly600Arg)
n.479-22121C>T
n.563+22199C>T
c.1816G>A (p.Gly606Arg)
 dbSNP
4g.47936904A>CCA356825080CNGA1,NIPAL1c.1578T>G (p.Asp526Glu)
c.1590T>G (p.Asp530Glu)
c.1797T>G (p.Asp599Glu)
n.479-22120A>C
n.563+22200A>C
c.1815T>G (p.Asp605Glu)
4g.47936904A>GCA439403796CNGA1,NIPAL1c.1578T>C (p.Asp526=)
c.1590T>C (p.Asp530=)
c.1797T>C (p.Asp599=)
n.479-22120A>G
n.563+22200A>G
c.1815T>C (p.Asp605=)
4g.47936904A>TCA356825082CNGA1,NIPAL1c.1578T>A (p.Asp526Glu)
c.1590T>A (p.Asp530Glu)
c.1797T>A (p.Asp599Glu)
n.479-22120A>T
n.563+22200A>T
c.1815T>A (p.Asp605Glu)
4g.47936905T>ACA356825085CNGA1,NIPAL1c.1577A>T (p.Asp526Val)
c.1589A>T (p.Asp530Val)
c.1796A>T (p.Asp599Val)
n.479-22119T>A
n.563+22201T>A
c.1814A>T (p.Asp605Val)
4g.47936905T>CCA356825086CNGA1,NIPAL1c.1577A>G (p.Asp526Gly)
c.1589A>G (p.Asp530Gly)
c.1796A>G (p.Asp599Gly)
n.479-22119T>C
n.563+22201T>C
c.1814A>G (p.Asp605Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.47936905T>GCA356825089CNGA1,NIPAL1c.1577A>C (p.Asp526Ala)
c.1589A>C (p.Asp530Ala)
c.1796A>C (p.Asp599Ala)
n.479-22119T>G
n.563+22201T>G
c.1814A>C (p.Asp605Ala)
4g.47936905T=CA1455551762CNGA1,NIPAL1c.1577A= (p.Asp526=)
c.1589A= (p.Asp530=)
c.1796A= (p.Asp599=)
n.479-22119T=
n.563+22201T=
c.1814A= (p.Asp605=)
4g.47936906C>ACA356825091CNGA1,NIPAL1c.1576G>T (p.Asp526Tyr)
c.1588G>T (p.Asp530Tyr)
c.1795G>T (p.Asp599Tyr)
n.479-22118C>A
n.563+22202C>A
c.1813G>T (p.Asp605Tyr)
4g.47936906C>GCA356825095CNGA1,NIPAL1c.1576G>C (p.Asp526His)
c.1588G>C (p.Asp530His)
c.1795G>C (p.Asp599His)
n.479-22118C>G
n.563+22202C>G
c.1813G>C (p.Asp605His)
4g.47936906C>TCA356825093CNGA1,NIPAL1c.1576G>A (p.Asp526Asn)
c.1588G>A (p.Asp530Asn)
c.1795G>A (p.Asp599Asn)
n.479-22118C>T
n.563+22202C>T
c.1813G>A (p.Asp605Asn)
4g.47936907A=CA1455551763CNGA1,NIPAL1c.1575T= (p.Asp525=)
c.1587T= (p.Asp529=)
c.1794T= (p.Asp598=)
n.479-22117A=
n.563+22203A=
c.1812T= (p.Asp604=)
4g.47936907A>CCA356825097CNGA1,NIPAL1c.1575T>G (p.Asp525Glu)
c.1587T>G (p.Asp529Glu)
c.1794T>G (p.Asp598Glu)
n.479-22117A>C
n.563+22203A>C
c.1812T>G (p.Asp604Glu)
4g.47936907A>GCA439403797CNGA1,NIPAL1c.1575T>C (p.Asp525=)
c.1587T>C (p.Asp529=)
c.1794T>C (p.Asp598=)
n.479-22117A>G
n.563+22203A>G
c.1812T>C (p.Asp604=)
 ClinVar dbSNP gnomAD v4
4g.47936907A>TCA356825098CNGA1,NIPAL1c.1575T>A (p.Asp525Glu)
c.1587T>A (p.Asp529Glu)
c.1794T>A (p.Asp598Glu)
n.479-22117A>T
n.563+22203A>T
c.1812T>A (p.Asp604Glu)
4g.47936908T>ACA356825100CNGA1,NIPAL1c.1574A>T (p.Asp525Val)
c.1586A>T (p.Asp529Val)
c.1793A>T (p.Asp598Val)
n.479-22116T>A
n.563+22204T>A
c.1811A>T (p.Asp604Val)
4g.47936908T>CCA356825102CNGA1,NIPAL1c.1574A>G (p.Asp525Gly)
c.1586A>G (p.Asp529Gly)
c.1793A>G (p.Asp598Gly)
n.479-22116T>C
n.563+22204T>C
c.1811A>G (p.Asp604Gly)
4g.47936908T>GCA356825104CNGA1,NIPAL1c.1574A>C (p.Asp525Ala)
c.1586A>C (p.Asp529Ala)
c.1793A>C (p.Asp598Ala)
n.479-22116T>G
n.563+22204T>G
c.1811A>C (p.Asp604Ala)
4g.47936909C>ACA356825107CNGA1,NIPAL1c.1573G>T (p.Asp525Tyr)
c.1585G>T (p.Asp529Tyr)
c.1792G>T (p.Asp598Tyr)
n.479-22115C>A
n.563+22205C>A
c.1810G>T (p.Asp604Tyr)
4g.47936909C>GCA356825109CNGA1,NIPAL1c.1573G>C (p.Asp525His)
c.1585G>C (p.Asp529His)
c.1792G>C (p.Asp598His)
n.479-22115C>G
n.563+22205C>G
c.1810G>C (p.Asp604His)
4g.47936909C>TCA356825110CNGA1,NIPAL1c.1573G>A (p.Asp525Asn)
c.1585G>A (p.Asp529Asn)
c.1792G>A (p.Asp598Asn)
n.479-22115C>T
n.563+22205C>T
c.1810G>A (p.Asp604Asn)
 ClinVar
4g.47936910T>ACA439403798CNGA1,NIPAL1c.1572A>T (p.Ala524=)
c.1584A>T (p.Ala528=)
c.1791A>T (p.Ala597=)
n.479-22114T>A
n.563+22206T>A
c.1809A>T (p.Ala603=)
4g.47936910T>CCA439403799CNGA1,NIPAL1c.1572A>G (p.Ala524=)
c.1584A>G (p.Ala528=)
c.1791A>G (p.Ala597=)
n.479-22114T>C
n.563+22206T>C
c.1809A>G (p.Ala603=)
4g.47936910T>GCA439403800CNGA1,NIPAL1c.1572A>C (p.Ala524=)
c.1584A>C (p.Ala528=)
c.1791A>C (p.Ala597=)
n.479-22114T>G
n.563+22206T>G
c.1809A>C (p.Ala603=)
 dbSNP
4g.47936911G>ACA356825114CNGA1,NIPAL1c.1571C>T (p.Ala524Val)
c.1583C>T (p.Ala528Val)
c.1790C>T (p.Ala597Val)
n.479-22113G>A
n.563+22207G>A
c.1808C>T (p.Ala603Val)
 dbSNP gnomAD v2
4g.47936911G>CCA356825116CNGA1,NIPAL1c.1571C>G (p.Ala524Gly)
c.1583C>G (p.Ala528Gly)
c.1790C>G (p.Ala597Gly)
n.479-22113G>C
n.563+22207G>C
c.1808C>G (p.Ala603Gly)
4g.47936911G=CA1455551764CNGA1,NIPAL1c.1571C= (p.Ala524=)
c.1583C= (p.Ala528=)
c.1790C= (p.Ala597=)
n.479-22113G=
n.563+22207G=
c.1808C= (p.Ala603=)
4g.47936911G>TCA356825117CNGA1,NIPAL1c.1571C>A (p.Ala524Glu)
c.1583C>A (p.Ala528Glu)
c.1790C>A (p.Ala597Glu)
n.479-22113G>T
n.563+22207G>T
c.1808C>A (p.Ala603Glu)
 gnomAD v4 COSMIC
4g.47936912C>ACA2911052CNGA1,NIPAL1c.1570G>T (p.Ala524Ser)
c.1582G>T (p.Ala528Ser)
c.1789G>T (p.Ala597Ser)
n.479-22112C>A
n.563+22208C>A
c.1807G>T (p.Ala603Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936912C=CA1455551765CNGA1,NIPAL1c.1570G= (p.Ala524=)
c.1582G= (p.Ala528=)
c.1789G= (p.Ala597=)
n.479-22112C=
n.563+22208C=
c.1807G= (p.Ala603=)
4g.47936912C>GCA356825120CNGA1,NIPAL1c.1570G>C (p.Ala524Pro)
c.1582G>C (p.Ala528Pro)
c.1789G>C (p.Ala597Pro)
n.479-22112C>G
n.563+22208C>G
c.1807G>C (p.Ala603Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936912C>TCA356825119CNGA1,NIPAL1c.1570G>A (p.Ala524Thr)
c.1582G>A (p.Ala528Thr)
c.1789G>A (p.Ala597Thr)
n.479-22112C>T
n.563+22208C>T
c.1807G>A (p.Ala603Thr)
4g.47936913C>ACA439403803CNGA1,NIPAL1c.1569G>T (p.Val523=)
c.1581G>T (p.Val527=)
c.1788G>T (p.Val596=)
n.479-22111C>A
n.563+22209C>A
c.1806G>T (p.Val602=)
4g.47936913C>GCA439403801CNGA1,NIPAL1c.1569G>C (p.Val523=)
c.1581G>C (p.Val527=)
c.1788G>C (p.Val596=)
n.479-22111C>G
n.563+22209C>G
c.1806G>C (p.Val602=)
4g.47936913C>TCA439403802CNGA1,NIPAL1c.1569G>A (p.Val523=)
c.1581G>A (p.Val527=)
c.1788G>A (p.Val596=)
n.479-22111C>T
n.563+22209C>T
c.1806G>A (p.Val602=)
4g.47936914A>CCA356825123CNGA1,NIPAL1c.1568T>G (p.Val523Gly)
c.1580T>G (p.Val527Gly)
c.1787T>G (p.Val596Gly)
n.479-22110A>C
n.563+22210A>C
c.1805T>G (p.Val602Gly)
4g.47936914A>GCA356825125CNGA1,NIPAL1c.1568T>C (p.Val523Ala)
c.1580T>C (p.Val527Ala)
c.1787T>C (p.Val596Ala)
n.479-22110A>G
n.563+22210A>G
c.1805T>C (p.Val602Ala)
4g.47936914A>TCA356825127CNGA1,NIPAL1c.1568T>A (p.Val523Glu)
c.1580T>A (p.Val527Glu)
c.1787T>A (p.Val596Glu)
n.479-22110A>T
n.563+22210A>T
c.1805T>A (p.Val602Glu)
4g.47936915C>ACA356825129CNGA1,NIPAL1c.1567G>T (p.Val523Leu)
c.1579G>T (p.Val527Leu)
c.1786G>T (p.Val596Leu)
n.479-22109C>A
n.563+22211C>A
c.1804G>T (p.Val602Leu)
4g.47936915C>GCA356825132CNGA1,NIPAL1c.1567G>C (p.Val523Leu)
c.1579G>C (p.Val527Leu)
c.1786G>C (p.Val596Leu)
n.479-22109C>G
n.563+22211C>G
c.1804G>C (p.Val602Leu)
4g.47936915C>TCA356825133CNGA1,NIPAL1c.1567G>A (p.Val523Met)
c.1579G>A (p.Val527Met)
c.1786G>A (p.Val596Met)
n.479-22109C>T
n.563+22211C>T
c.1804G>A (p.Val602Met)
4g.47936916C>ACA439403804CNGA1,NIPAL1c.1566G>T (p.Val522=)
c.1578G>T (p.Val526=)
c.1785G>T (p.Val595=)
n.479-22108C>A
n.563+22212C>A
c.1803G>T (p.Val601=)
4g.47936916C>GCA439403805CNGA1,NIPAL1c.1566G>C (p.Val522=)
c.1578G>C (p.Val526=)
c.1785G>C (p.Val595=)
n.479-22108C>G
n.563+22212C>G
c.1803G>C (p.Val601=)
4g.47936916C>TCA439403806CNGA1,NIPAL1c.1566G>A (p.Val522=)
c.1578G>A (p.Val526=)
c.1785G>A (p.Val595=)
n.479-22108C>T
n.563+22212C>T
c.1803G>A (p.Val601=)
4g.47936917A=CA1455551766CNGA1,NIPAL1c.1565T= (p.Val522=)
c.1577T= (p.Val526=)
c.1784T= (p.Val595=)
n.479-22107A=
n.563+22213A=
c.1802T= (p.Val601=)
4g.47936917A>CCA356825136CNGA1,NIPAL1c.1565T>G (p.Val522Gly)
c.1577T>G (p.Val526Gly)
c.1784T>G (p.Val595Gly)
n.479-22107A>C
n.563+22213A>C
c.1802T>G (p.Val601Gly)
4g.47936917A>GCA356825138CNGA1,NIPAL1c.1565T>C (p.Val522Ala)
c.1577T>C (p.Val526Ala)
c.1784T>C (p.Val595Ala)
n.479-22107A>G
n.563+22213A>G
c.1802T>C (p.Val601Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936917A>TCA356825140CNGA1,NIPAL1c.1565T>A (p.Val522Glu)
c.1577T>A (p.Val526Glu)
c.1784T>A (p.Val595Glu)
n.479-22107A>T
n.563+22213A>T
c.1802T>A (p.Val601Glu)
4g.47936918C>ACA356825144CNGA1,NIPAL1c.1564G>T (p.Val522Leu)
c.1576G>T (p.Val526Leu)
c.1783G>T (p.Val595Leu)
n.479-22106C>A
n.563+22214C>A
c.1801G>T (p.Val601Leu)
4g.47936918C=CA1455551767CNGA1,NIPAL1c.1564G= (p.Val522=)
c.1576G= (p.Val526=)
c.1783G= (p.Val595=)
n.479-22106C=
n.563+22214C=
c.1801G= (p.Val601=)
4g.47936918C>GCA356825146CNGA1,NIPAL1c.1564G>C (p.Val522Leu)
c.1576G>C (p.Val526Leu)
c.1783G>C (p.Val595Leu)
n.479-22106C>G
n.563+22214C>G
c.1801G>C (p.Val601Leu)
 gnomAD v4
4g.47936918C>TCA2911053CNGA1,NIPAL1c.1564G>A (p.Val522Met)
c.1576G>A (p.Val526Met)
c.1783G>A (p.Val595Met)
n.479-22106C>T
n.563+22214C>T
c.1801G>A (p.Val601Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936919A>CCA439403807CNGA1,NIPAL1c.1563T>G (p.Ala521=)
c.1575T>G (p.Ala525=)
c.1782T>G (p.Ala594=)
n.479-22105A>C
n.563+22215A>C
c.1800T>G (p.Ala600=)
4g.47936919A>GCA439403808CNGA1,NIPAL1c.1563T>C (p.Ala521=)
c.1575T>C (p.Ala525=)
c.1782T>C (p.Ala594=)
n.479-22105A>G
n.563+22215A>G
c.1800T>C (p.Ala600=)
 gnomAD v4
4g.47936919A>TCA439403809CNGA1,NIPAL1c.1563T>A (p.Ala521=)
c.1575T>A (p.Ala525=)
c.1782T>A (p.Ala594=)
n.479-22105A>T
n.563+22215A>T
c.1800T>A (p.Ala600=)
4g.47936920G>ACA356825154CNGA1,NIPAL1c.1562C>T (p.Ala521Val)
c.1574C>T (p.Ala525Val)
c.1781C>T (p.Ala594Val)
n.479-22104G>A
n.563+22216G>A
c.1799C>T (p.Ala600Val)
4g.47936920G>CCA356825152CNGA1,NIPAL1c.1562C>G (p.Ala521Gly)
c.1574C>G (p.Ala525Gly)
c.1781C>G (p.Ala594Gly)
n.479-22104G>C
n.563+22216G>C
c.1799C>G (p.Ala600Gly)
4g.47936920G>TCA356825150CNGA1,NIPAL1c.1562C>A (p.Ala521Asp)
c.1574C>A (p.Ala525Asp)
c.1781C>A (p.Ala594Asp)
n.479-22104G>T
n.563+22216G>T
c.1799C>A (p.Ala600Asp)
4g.47936921C>ACA356825157CNGA1,NIPAL1c.1561G>T (p.Ala521Ser)
c.1573G>T (p.Ala525Ser)
c.1780G>T (p.Ala594Ser)
n.479-22103C>A
n.563+22217C>A
c.1798G>T (p.Ala600Ser)
 gnomAD v4
4g.47936921C=CA1455551768CNGA1,NIPAL1c.1561G= (p.Ala521=)
c.1573G= (p.Ala525=)
c.1780G= (p.Ala594=)
n.479-22103C=
n.563+22217C=
c.1798G= (p.Ala600=)
4g.47936921C>GCA356825155CNGA1,NIPAL1c.1561G>C (p.Ala521Pro)
c.1573G>C (p.Ala525Pro)
c.1780G>C (p.Ala594Pro)
n.479-22103C>G
n.563+22217C>G
c.1798G>C (p.Ala600Pro)
4g.47936921C>TCA2911054CNGA1,NIPAL1c.1561G>A (p.Ala521Thr)
c.1573G>A (p.Ala525Thr)
c.1780G>A (p.Ala594Thr)
n.479-22103C>T
n.563+22217C>T
c.1798G>A (p.Ala600Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936921_47936922delinsCGCA1455551769CNGA1,NIPAL1c.1560_1561delinsCG (p.Leu520=)
c.1572_1573delinsCG (p.Leu524=)
c.1779_1780delinsCG (p.Leu593=)
n.479-22103_479-22102delinsCG
n.563+22217_563+22218delinsCG
c.1797_1798delinsCG (p.Leu599=)
4g.47936922delCA1061983619CNGA1,NIPAL1c.1560del (p.Ala521LeufsTer14)
c.1572del (p.Ala525LeufsTer14)
c.1779del (p.Ala594LeufsTer14)
n.479-22102del
n.563+22218del
c.1797del (p.Ala600LeufsTer14)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47936922G>ACA10604421CNGA1,NIPAL1c.1560C>T (p.Leu520=)
c.1572C>T (p.Leu524=)
c.1779C>T (p.Leu593=)
n.479-22102G>A
n.563+22218G>A
c.1797C>T (p.Leu599=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47936922G>CCA439403810CNGA1,NIPAL1c.1560C>G (p.Leu520=)
c.1572C>G (p.Leu524=)
c.1779C>G (p.Leu593=)
n.479-22102G>C
n.563+22218G>C
c.1797C>G (p.Leu599=)
4g.47936922G=CA1455551770CNGA1,NIPAL1c.1560C= (p.Leu520=)
c.1572C= (p.Leu524=)
c.1779C= (p.Leu593=)
n.479-22102G=
n.563+22218G=
c.1797C= (p.Leu599=)
4g.47936922G>TCA2911055CNGA1,NIPAL1c.1560C>A (p.Leu520=)
c.1572C>A (p.Leu524=)
c.1779C>A (p.Leu593=)
n.479-22102G>T
n.563+22218G>T
c.1797C>A (p.Leu599=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936923A>CCA356825163CNGA1,NIPAL1c.1559T>G (p.Leu520Arg)
c.1571T>G (p.Leu524Arg)
c.1778T>G (p.Leu593Arg)
n.479-22101A>C
n.563+22219A>C
c.1796T>G (p.Leu599Arg)
4g.47936923A>GCA356825165CNGA1,NIPAL1c.1559T>C (p.Leu520Pro)
c.1571T>C (p.Leu524Pro)
c.1778T>C (p.Leu593Pro)
n.479-22101A>G
n.563+22219A>G
c.1796T>C (p.Leu599Pro)
4g.47936923A>TCA356825166CNGA1,NIPAL1c.1559T>A (p.Leu520His)
c.1571T>A (p.Leu524His)
c.1778T>A (p.Leu593His)
n.479-22101A>T
n.563+22219A>T
c.1796T>A (p.Leu599His)
4g.47936924G>ACA356825170CNGA1,NIPAL1c.1558C>T (p.Leu520Phe)
c.1570C>T (p.Leu524Phe)
c.1777C>T (p.Leu593Phe)
n.479-22100G>A
n.563+22220G>A
c.1795C>T (p.Leu599Phe)
4g.47936924G>CCA2911056CNGA1,NIPAL1c.1558C>G (p.Leu520Val)
c.1570C>G (p.Leu524Val)
c.1777C>G (p.Leu593Val)
n.479-22100G>C
n.563+22220G>C
c.1795C>G (p.Leu599Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936924G=CA1455551771CNGA1,NIPAL1c.1558C= (p.Leu520=)
c.1570C= (p.Leu524=)
c.1777C= (p.Leu593=)
n.479-22100G=
n.563+22220G=
c.1795C= (p.Leu599=)
4g.47936924G>TCA356825174CNGA1,NIPAL1c.1558C>A (p.Leu520Ile)
c.1570C>A (p.Leu524Ile)
c.1777C>A (p.Leu593Ile)
n.479-22100G>T
n.563+22220G>T
c.1795C>A (p.Leu599Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.47936925T>ACA356825177CNGA1,NIPAL1c.1557A>T (p.Lys519Asn)
c.1569A>T (p.Lys523Asn)
c.1776A>T (p.Lys592Asn)
n.479-22099T>A
n.563+22221T>A
c.1794A>T (p.Lys598Asn)
4g.47936925T>CCA439403811CNGA1,NIPAL1c.1557A>G (p.Lys519=)
c.1569A>G (p.Lys523=)
c.1776A>G (p.Lys592=)
n.479-22099T>C
n.563+22221T>C
c.1794A>G (p.Lys598=)
 gnomAD v4
4g.47936925T>GCA356825180CNGA1,NIPAL1c.1557A>C (p.Lys519Asn)
c.1569A>C (p.Lys523Asn)
c.1776A>C (p.Lys592Asn)
n.479-22099T>G
n.563+22221T>G
c.1794A>C (p.Lys598Asn)
4g.47936927delCA2499217219CNGA1,NIPAL1c.1557del (p.Lys519AsnfsTer16)
c.1569del (p.Lys523AsnfsTer16)
c.1776del (p.Lys592AsnfsTer16)
n.479-22097del
n.563+22223del
c.1794del (p.Lys598AsnfsTer16)
 ClinVar dbSNP
4g.47936926T>ACA356825184CNGA1,NIPAL1c.1556A>T (p.Lys519Ile)
c.1568A>T (p.Lys523Ile)
c.1775A>T (p.Lys592Ile)
n.479-22098T>A
n.563+22222T>A
c.1793A>T (p.Lys598Ile)
4g.47936926T>CCA356825187CNGA1,NIPAL1c.1556A>G (p.Lys519Arg)
c.1568A>G (p.Lys523Arg)
c.1775A>G (p.Lys592Arg)
n.479-22098T>C
n.563+22222T>C
c.1793A>G (p.Lys598Arg)
 ClinVar gnomAD v4
4g.47936926T>GCA356825190CNGA1,NIPAL1c.1556A>C (p.Lys519Thr)
c.1568A>C (p.Lys523Thr)
c.1775A>C (p.Lys592Thr)
n.479-22098T>G
n.563+22222T>G
c.1793A>C (p.Lys598Thr)
4g.47936927T>ACA356825199CNGA1,NIPAL1c.1555A>T (p.Lys519Ter)
c.1567A>T (p.Lys523Ter)
c.1774A>T (p.Lys592Ter)
n.479-22097T>A
n.563+22223T>A
c.1792A>T (p.Lys598Ter)
4g.47936927T>CCA356825193CNGA1,NIPAL1c.1555A>G (p.Lys519Glu)
c.1567A>G (p.Lys523Glu)
c.1774A>G (p.Lys592Glu)
n.479-22097T>C
n.563+22223T>C
c.1792A>G (p.Lys598Glu)
 gnomAD v4
4g.47936927T>GCA356825196CNGA1,NIPAL1c.1555A>C (p.Lys519Gln)
c.1567A>C (p.Lys523Gln)
c.1774A>C (p.Lys592Gln)
n.479-22097T>G
n.563+22223T>G
c.1792A>C (p.Lys598Gln)
4g.47936928G>ACA439403812CNGA1,NIPAL1c.1554C>T (p.Gly518=)
c.1566C>T (p.Gly522=)
c.1773C>T (p.Gly591=)
n.479-22096G>A
n.563+22224G>A
c.1791C>T (p.Gly597=)
 dbSNP gnomAD v2 gnomAD v4
4g.47936928G>CCA439403813CNGA1,NIPAL1c.1554C>G (p.Gly518=)
c.1566C>G (p.Gly522=)
c.1773C>G (p.Gly591=)
n.479-22096G>C
n.563+22224G>C
c.1791C>G (p.Gly597=)
4g.47936928G=CA1455551772CNGA1,NIPAL1c.1554C= (p.Gly518=)
c.1566C= (p.Gly522=)
c.1773C= (p.Gly591=)
n.479-22096G=
n.563+22224G=
c.1791C= (p.Gly597=)
4g.47936928G>TCA439403814CNGA1,NIPAL1c.1554C>A (p.Gly518=)
c.1566C>A (p.Gly522=)
c.1773C>A (p.Gly591=)
n.479-22096G>T
n.563+22224G>T
c.1791C>A (p.Gly597=)
 gnomAD v4
4g.47936929C>ACA356825203CNGA1,NIPAL1c.1553G>T (p.Gly518Val)
c.1565G>T (p.Gly522Val)
c.1772G>T (p.Gly591Val)
n.479-22095C>A
n.563+22225C>A
c.1790G>T (p.Gly597Val)
4g.47936929C>GCA356825204CNGA1,NIPAL1c.1553G>C (p.Gly518Ala)
c.1565G>C (p.Gly522Ala)
c.1772G>C (p.Gly591Ala)
n.479-22095C>G
n.563+22225C>G
c.1790G>C (p.Gly597Ala)
4g.47936929C>TCA356825208CNGA1,NIPAL1c.1553G>A (p.Gly518Asp)
c.1565G>A (p.Gly522Asp)
c.1772G>A (p.Gly591Asp)
n.479-22095C>T
n.563+22225C>T
c.1790G>A (p.Gly597Asp)
 gnomAD v4
4g.47936930C>ACA356825211CNGA1,NIPAL1c.1552G>T (p.Gly518Cys)
c.1564G>T (p.Gly522Cys)
c.1771G>T (p.Gly591Cys)
n.479-22094C>A
n.563+22226C>A
c.1789G>T (p.Gly597Cys)
4g.47936930C>GCA356825214CNGA1,NIPAL1c.1552G>C (p.Gly518Arg)
c.1564G>C (p.Gly522Arg)
c.1771G>C (p.Gly591Arg)
n.479-22094C>G
n.563+22226C>G
c.1789G>C (p.Gly597Arg)
4g.47936930C>TCA356825216CNGA1,NIPAL1c.1552G>A (p.Gly518Ser)
c.1564G>A (p.Gly522Ser)
c.1771G>A (p.Gly591Ser)
n.479-22094C>T
n.563+22226C>T
c.1789G>A (p.Gly597Ser)
4g.47936931T>ACA356825219CNGA1,NIPAL1c.1551A>T (p.Glu517Asp)
c.1563A>T (p.Glu521Asp)
c.1770A>T (p.Glu590Asp)
n.479-22093T>A
n.563+22227T>A
c.1788A>T (p.Glu596Asp)
4g.47936931T>CCA439403815CNGA1,NIPAL1c.1551A>G (p.Glu517=)
c.1563A>G (p.Glu521=)
c.1770A>G (p.Glu590=)
n.479-22093T>C
n.563+22227T>C
c.1788A>G (p.Glu596=)
4g.47936931T>GCA356825222CNGA1,NIPAL1c.1551A>C (p.Glu517Asp)
c.1563A>C (p.Glu521Asp)
c.1770A>C (p.Glu590Asp)
n.479-22093T>G
n.563+22227T>G
c.1788A>C (p.Glu596Asp)
4g.47936932delCA2670552347CNGA1,NIPAL1c.1551del (p.Gly518AlafsTer17)
c.1563del (p.Gly522AlafsTer17)
c.1770del (p.Gly591AlafsTer17)
n.479-22092del
n.563+22228del
c.1788del (p.Gly597AlafsTer17)
 gnomAD v4
4g.47936932T>ACA356825225CNGA1,NIPAL1c.1550A>T (p.Glu517Val)
c.1562A>T (p.Glu521Val)
c.1769A>T (p.Glu590Val)
n.479-22092T>A
n.563+22228T>A
c.1787A>T (p.Glu596Val)
4g.47936932T>CCA356825228CNGA1,NIPAL1c.1550A>G (p.Glu517Gly)
c.1562A>G (p.Glu521Gly)
c.1769A>G (p.Glu590Gly)
n.479-22092T>C
n.563+22228T>C
c.1787A>G (p.Glu596Gly)
4g.47936932T>GCA356825231CNGA1,NIPAL1c.1550A>C (p.Glu517Ala)
c.1562A>C (p.Glu521Ala)
c.1769A>C (p.Glu590Ala)
n.479-22092T>G
n.563+22228T>G
c.1787A>C (p.Glu596Ala)
4g.47936933C>ACA356825239CNGA1,NIPAL1c.1549G>T (p.Glu517Ter)
c.1561G>T (p.Glu521Ter)
c.1768G>T (p.Glu590Ter)
n.479-22091C>A
n.563+22229C>A
c.1786G>T (p.Glu596Ter)
 dbSNP gnomAD v2 gnomAD v4
4g.47936933C=CA1455551773CNGA1,NIPAL1c.1549G= (p.Glu517=)
c.1561G= (p.Glu521=)
c.1768G= (p.Glu590=)
n.479-22091C=
n.563+22229C=
c.1786G= (p.Glu596=)
4g.47936933C>GCA356825237CNGA1,NIPAL1c.1549G>C (p.Glu517Gln)
c.1561G>C (p.Glu521Gln)
c.1768G>C (p.Glu590Gln)
n.479-22091C>G
n.563+22229C>G
c.1786G>C (p.Glu596Gln)
4g.47936933C>TCA356825235CNGA1,NIPAL1c.1549G>A (p.Glu517Lys)
c.1561G>A (p.Glu521Lys)
c.1768G>A (p.Glu590Lys)
n.479-22091C>T
n.563+22229C>T
c.1786G>A (p.Glu596Lys)
4g.47936934C>ACA356825244CNGA1,NIPAL1c.1548G>T (p.Lys516Asn)
c.1560G>T (p.Lys520Asn)
c.1767G>T (p.Lys589Asn)
n.479-22090C>A
n.563+22230C>A
c.1785G>T (p.Lys595Asn)
4g.47936934C=CA1455551774CNGA1,NIPAL1c.1548G= (p.Lys516=)
c.1560G= (p.Lys520=)
c.1767G= (p.Lys589=)
n.479-22090C=
n.563+22230C=
c.1785G= (p.Lys595=)
4g.47936934C>GCA356825246CNGA1,NIPAL1c.1548G>C (p.Lys516Asn)
c.1560G>C (p.Lys520Asn)
c.1767G>C (p.Lys589Asn)
n.479-22090C>G
n.563+22230C>G
c.1785G>C (p.Lys595Asn)
4g.47936934C>TCA2911057CNGA1,NIPAL1c.1548G>A (p.Lys516=)
c.1560G>A (p.Lys520=)
c.1767G>A (p.Lys589=)
n.479-22090C>T
n.563+22230C>T
c.1785G>A (p.Lys595=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936935T>ACA356825252CNGA1,NIPAL1c.1547A>T (p.Lys516Met)
c.1559A>T (p.Lys520Met)
c.1766A>T (p.Lys589Met)
n.479-22089T>A
n.563+22231T>A
c.1784A>T (p.Lys595Met)
 gnomAD v4
4g.47936935T>CCA356825254CNGA1,NIPAL1c.1547A>G (p.Lys516Arg)
c.1559A>G (p.Lys520Arg)
c.1766A>G (p.Lys589Arg)
n.479-22089T>C
n.563+22231T>C
c.1784A>G (p.Lys595Arg)
4g.47936935T>GCA356825257CNGA1,NIPAL1c.1547A>C (p.Lys516Thr)
c.1559A>C (p.Lys520Thr)
c.1766A>C (p.Lys589Thr)
n.479-22089T>G
n.563+22231T>G
c.1784A>C (p.Lys595Thr)
4g.47936936T>ACA356825262CNGA1,NIPAL1c.1546A>T (p.Lys516Ter)
c.1558A>T (p.Lys520Ter)
c.1765A>T (p.Lys589Ter)
n.479-22088T>A
n.563+22232T>A
c.1783A>T (p.Lys595Ter)
4g.47936936T>CCA356825263CNGA1,NIPAL1c.1546A>G (p.Lys516Glu)
c.1558A>G (p.Lys520Glu)
c.1765A>G (p.Lys589Glu)
n.479-22088T>C
n.563+22232T>C
c.1783A>G (p.Lys595Glu)
 gnomAD v4
4g.47936936T>GCA356825266CNGA1,NIPAL1c.1546A>C (p.Lys516Gln)
c.1558A>C (p.Lys520Gln)
c.1765A>C (p.Lys589Gln)
n.479-22088T>G
n.563+22232T>G
c.1783A>C (p.Lys595Gln)
4g.47936937G>ACA439403816CNGA1,NIPAL1c.1545C>T (p.Ile515=)
c.1557C>T (p.Ile519=)
c.1764C>T (p.Ile588=)
n.479-22087G>A
n.563+22233G>A
c.1782C>T (p.Ile594=)
4g.47936937G>CCA356825269CNGA1,NIPAL1c.1545C>G (p.Ile515Met)
c.1557C>G (p.Ile519Met)
c.1764C>G (p.Ile588Met)
n.479-22087G>C
n.563+22233G>C
c.1782C>G (p.Ile594Met)
4g.47936937G>TCA439403817CNGA1,NIPAL1c.1545C>A (p.Ile515=)
c.1557C>A (p.Ile519=)
c.1764C>A (p.Ile588=)
n.479-22087G>T
n.563+22233G>T
c.1782C>A (p.Ile594=)
4g.47936938A=CA1455551775CNGA1,NIPAL1c.1544T= (p.Ile515=)
c.1556T= (p.Ile519=)
c.1763T= (p.Ile588=)
n.479-22086A=
n.563+22234A=
c.1781T= (p.Ile594=)
4g.47936938A>CCA356825272CNGA1,NIPAL1c.1544T>G (p.Ile515Ser)
c.1556T>G (p.Ile519Ser)
c.1763T>G (p.Ile588Ser)
n.479-22086A>C
n.563+22234A>C
c.1781T>G (p.Ile594Ser)
4g.47936938A>GCA2911058CNGA1,NIPAL1c.1544T>C (p.Ile515Thr)
c.1556T>C (p.Ile519Thr)
c.1763T>C (p.Ile588Thr)
n.479-22086A>G
n.563+22234A>G
c.1781T>C (p.Ile594Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936938A>TCA356825274CNGA1,NIPAL1c.1544T>A (p.Ile515Asn)
c.1556T>A (p.Ile519Asn)
c.1763T>A (p.Ile588Asn)
n.479-22086A>T
n.563+22234A>T
c.1781T>A (p.Ile594Asn)
4g.47936939T>ACA356825277CNGA1,NIPAL1c.1543A>T (p.Ile515Phe)
c.1555A>T (p.Ile519Phe)
c.1762A>T (p.Ile588Phe)
n.479-22085T>A
n.563+22235T>A
c.1780A>T (p.Ile594Phe)
4g.47936939T>CCA356825275CNGA1,NIPAL1c.1543A>G (p.Ile515Val)
c.1555A>G (p.Ile519Val)
c.1762A>G (p.Ile588Val)
n.479-22085T>C
n.563+22235T>C
c.1780A>G (p.Ile594Val)
4g.47936939T>GCA356825276CNGA1,NIPAL1c.1543A>C (p.Ile515Leu)
c.1555A>C (p.Ile519Leu)
c.1762A>C (p.Ile588Leu)
n.479-22085T>G
n.563+22235T>G
c.1780A>C (p.Ile594Leu)
4g.47936940A=CA1455551776CNGA1,NIPAL1c.1542T= (p.Ile514=)
c.1554T= (p.Ile518=)
c.1761T= (p.Ile587=)
n.479-22084A=
n.563+22236A=
c.1779T= (p.Ile593=)
4g.47936940A>CCA356825279CNGA1,NIPAL1c.1542T>G (p.Ile514Met)
c.1554T>G (p.Ile518Met)
c.1761T>G (p.Ile587Met)
n.479-22084A>C
n.563+22236A>C
c.1779T>G (p.Ile593Met)
4g.47936940A>GCA439403818CNGA1,NIPAL1c.1542T>C (p.Ile514=)
c.1554T>C (p.Ile518=)
c.1761T>C (p.Ile587=)
n.479-22084A>G
n.563+22236A>G
c.1779T>C (p.Ile593=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47936940A>TCA439403819CNGA1,NIPAL1c.1542T>A (p.Ile514=)
c.1554T>A (p.Ile518=)
c.1761T>A (p.Ile587=)
n.479-22084A>T
n.563+22236A>T
c.1779T>A (p.Ile593=)
4g.47936941A>CCA356825281CNGA1,NIPAL1c.1541T>G (p.Ile514Ser)
c.1553T>G (p.Ile518Ser)
c.1760T>G (p.Ile587Ser)
n.479-22083A>C
n.563+22237A>C
c.1778T>G (p.Ile593Ser)
 gnomAD v4
4g.47936941A>GCA356825282CNGA1,NIPAL1c.1541T>C (p.Ile514Thr)
c.1553T>C (p.Ile518Thr)
c.1760T>C (p.Ile587Thr)
n.479-22083A>G
n.563+22237A>G
c.1778T>C (p.Ile593Thr)
4g.47936941A>TCA356825284CNGA1,NIPAL1c.1541T>A (p.Ile514Asn)
c.1553T>A (p.Ile518Asn)
c.1760T>A (p.Ile587Asn)
n.479-22083A>T
n.563+22237A>T
c.1778T>A (p.Ile593Asn)
4g.47936942T>ACA356825287CNGA1,NIPAL1c.1540A>T (p.Ile514Phe)
c.1552A>T (p.Ile518Phe)
c.1759A>T (p.Ile587Phe)
n.479-22082T>A
n.563+22238T>A
c.1777A>T (p.Ile593Phe)
4g.47936942T>CCA356825288CNGA1,NIPAL1c.1540A>G (p.Ile514Val)
c.1552A>G (p.Ile518Val)
c.1759A>G (p.Ile587Val)
n.479-22082T>C
n.563+22238T>C
c.1777A>G (p.Ile593Val)
4g.47936942T>GCA356825290CNGA1,NIPAL1c.1540A>C (p.Ile514Leu)
c.1552A>C (p.Ile518Leu)
c.1759A>C (p.Ile587Leu)
n.479-22082T>G
n.563+22238T>G
c.1777A>C (p.Ile593Leu)
4g.47936943G>ACA439403822CNGA1,NIPAL1c.1539C>T (p.Tyr513=)
c.1551C>T (p.Tyr517=)
c.1758C>T (p.Tyr586=)
n.479-22081G>A
n.563+22239G>A
c.1776C>T (p.Tyr592=)
4g.47936943G>CCA356825292CNGA1,NIPAL1c.1539C>G (p.Tyr513Ter)
c.1551C>G (p.Tyr517Ter)
c.1758C>G (p.Tyr586Ter)
n.479-22081G>C
n.563+22239G>C
c.1776C>G (p.Tyr592Ter)
4g.47936943G>TCA356825294CNGA1,NIPAL1c.1539C>A (p.Tyr513Ter)
c.1551C>A (p.Tyr517Ter)
c.1758C>A (p.Tyr586Ter)
n.479-22081G>T
n.563+22239G>T
c.1776C>A (p.Tyr592Ter)
4g.47936944T>ACA356825297CNGA1,NIPAL1c.1538A>T (p.Tyr513Phe)
c.1550A>T (p.Tyr517Phe)
c.1757A>T (p.Tyr586Phe)
n.479-22080T>A
n.563+22240T>A
c.1775A>T (p.Tyr592Phe)
4g.47936944T>CCA356825298CNGA1,NIPAL1c.1538A>G (p.Tyr513Cys)
c.1550A>G (p.Tyr517Cys)
c.1757A>G (p.Tyr586Cys)
n.479-22080T>C
n.563+22240T>C
c.1775A>G (p.Tyr592Cys)
 gnomAD v4
4g.47936944T>GCA356825300CNGA1,NIPAL1c.1538A>C (p.Tyr513Ser)
c.1550A>C (p.Tyr517Ser)
c.1757A>C (p.Tyr586Ser)
n.479-22080T>G
n.563+22240T>G
c.1775A>C (p.Tyr592Ser)
4g.47936945A>CCA356825306CNGA1,NIPAL1c.1537T>G (p.Tyr513Asp)
c.1549T>G (p.Tyr517Asp)
c.1756T>G (p.Tyr586Asp)
n.479-22079A>C
n.563+22241A>C
c.1774T>G (p.Tyr592Asp)
4g.47936945A>GCA356825304CNGA1,NIPAL1c.1537T>C (p.Tyr513His)
c.1549T>C (p.Tyr517His)
c.1756T>C (p.Tyr586His)
n.479-22079A>G
n.563+22241A>G
c.1774T>C (p.Tyr592His)
4g.47936945A>TCA356825303CNGA1,NIPAL1c.1537T>A (p.Tyr513Asn)
c.1549T>A (p.Tyr517Asn)
c.1756T>A (p.Tyr586Asn)
n.479-22079A>T
n.563+22241A>T
c.1774T>A (p.Tyr592Asn)
4g.47936946C>ACA356825309CNGA1,NIPAL1c.1536G>T (p.Met512Ile)
c.1548G>T (p.Met516Ile)
c.1755G>T (p.Met585Ile)
n.479-22078C>A
n.563+22242C>A
c.1773G>T (p.Met591Ile)
4g.47936946C>GCA356825313CNGA1,NIPAL1c.1536G>C (p.Met512Ile)
c.1548G>C (p.Met516Ile)
c.1755G>C (p.Met585Ile)
n.479-22078C>G
n.563+22242C>G
c.1773G>C (p.Met591Ile)
4g.47936946C>TCA356825311CNGA1,NIPAL1c.1536G>A (p.Met512Ile)
c.1548G>A (p.Met516Ile)
c.1755G>A (p.Met585Ile)
n.479-22078C>T
n.563+22242C>T
c.1773G>A (p.Met591Ile)
4g.47936947A=CA1455551777CNGA1,NIPAL1c.1535T= (p.Met512=)
c.1547T= (p.Met516=)
c.1754T= (p.Met585=)
n.479-22077A=
n.563+22243A=
c.1772T= (p.Met591=)
4g.47936947A>CCA2911059CNGA1,NIPAL1c.1535T>G (p.Met512Arg)
c.1547T>G (p.Met516Arg)
c.1754T>G (p.Met585Arg)
n.479-22077A>C
n.563+22243A>C
c.1772T>G (p.Met591Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936947A>GCA356825316CNGA1,NIPAL1c.1535T>C (p.Met512Thr)
c.1547T>C (p.Met516Thr)
c.1754T>C (p.Met585Thr)
n.479-22077A>G
n.563+22243A>G
c.1772T>C (p.Met591Thr)
4g.47936947A>TCA356825318CNGA1,NIPAL1c.1535T>A (p.Met512Lys)
c.1547T>A (p.Met516Lys)
c.1754T>A (p.Met585Lys)
n.479-22077A>T
n.563+22243A>T
c.1772T>A (p.Met591Lys)
4g.47936948T>ACA356825320CNGA1,NIPAL1c.1534A>T (p.Met512Leu)
c.1546A>T (p.Met516Leu)
c.1753A>T (p.Met585Leu)
n.479-22076T>A
n.563+22244T>A
c.1771A>T (p.Met591Leu)
4g.47936948T>CCA356825322CNGA1,NIPAL1c.1534A>G (p.Met512Val)
c.1546A>G (p.Met516Val)
c.1753A>G (p.Met585Val)
n.479-22076T>C
n.563+22244T>C
c.1771A>G (p.Met591Val)
4g.47936948T>GCA356825324CNGA1,NIPAL1c.1534A>C (p.Met512Leu)
c.1546A>C (p.Met516Leu)
c.1753A>C (p.Met585Leu)
n.479-22076T>G
n.563+22244T>G
c.1771A>C (p.Met591Leu)
4g.47936949C>ACA356825326CNGA1,NIPAL1c.1533G>T (p.Glu511Asp)
c.1545G>T (p.Glu515Asp)
c.1752G>T (p.Glu584Asp)
n.479-22075C>A
n.563+22245C>A
c.1770G>T (p.Glu590Asp)
4g.47936949C>GCA356825328CNGA1,NIPAL1c.1533G>C (p.Glu511Asp)
c.1545G>C (p.Glu515Asp)
c.1752G>C (p.Glu584Asp)
n.479-22075C>G
n.563+22245C>G
c.1770G>C (p.Glu590Asp)
4g.47936949C>TCA439403825CNGA1,NIPAL1c.1533G>A (p.Glu511=)
c.1545G>A (p.Glu515=)
c.1752G>A (p.Glu584=)
n.479-22075C>T
n.563+22245C>T
c.1770G>A (p.Glu590=)
4g.47936950T>ACA356825330CNGA1,NIPAL1c.1532A>T (p.Glu511Val)
c.1544A>T (p.Glu515Val)
c.1751A>T (p.Glu584Val)
n.479-22074T>A
n.563+22246T>A
c.1769A>T (p.Glu590Val)
4g.47936950T>CCA356825332CNGA1,NIPAL1c.1532A>G (p.Glu511Gly)
c.1544A>G (p.Glu515Gly)
c.1751A>G (p.Glu584Gly)
n.479-22074T>C
n.563+22246T>C
c.1769A>G (p.Glu590Gly)
4g.47936950T>GCA356825334CNGA1,NIPAL1c.1532A>C (p.Glu511Ala)
c.1544A>C (p.Glu515Ala)
c.1751A>C (p.Glu584Ala)
n.479-22074T>G
n.563+22246T>G
c.1769A>C (p.Glu590Ala)
4g.47936951C>ACA356825341CNGA1,NIPAL1c.1531G>T (p.Glu511Ter)
c.1543G>T (p.Glu515Ter)
c.1750G>T (p.Glu584Ter)
n.479-22073C>A
n.563+22247C>A
c.1768G>T (p.Glu590Ter)
4g.47936951C>GCA356825339CNGA1,NIPAL1c.1531G>C (p.Glu511Gln)
c.1543G>C (p.Glu515Gln)
c.1750G>C (p.Glu584Gln)
n.479-22073C>G
n.563+22247C>G
c.1768G>C (p.Glu590Gln)
4g.47936951C>TCA356825338CNGA1,NIPAL1c.1531G>A (p.Glu511Lys)
c.1543G>A (p.Glu515Lys)
c.1750G>A (p.Glu584Lys)
n.479-22073C>T
n.563+22247C>T
c.1768G>A (p.Glu590Lys)
4g.47936952T>ACA439403827CNGA1,NIPAL1c.1530A>T (p.Arg510=)
c.1542A>T (p.Arg514=)
c.1749A>T (p.Arg583=)
n.479-22072T>A
n.563+22248T>A
c.1767A>T (p.Arg589=)
4g.47936952T>CCA439403828CNGA1,NIPAL1c.1530A>G (p.Arg510=)
c.1542A>G (p.Arg514=)
c.1749A>G (p.Arg583=)
n.479-22072T>C
n.563+22248T>C
c.1767A>G (p.Arg589=)
4g.47936952T>GCA439403829CNGA1,NIPAL1c.1530A>C (p.Arg510=)
c.1542A>C (p.Arg514=)
c.1749A>C (p.Arg583=)
n.479-22072T>G
n.563+22248T>G
c.1767A>C (p.Arg589=)
4g.47936953C>ACA356825343CNGA1,NIPAL1c.1529G>T (p.Arg510Leu)
c.1541G>T (p.Arg514Leu)
c.1748G>T (p.Arg583Leu)
n.479-22071C>A
n.563+22249C>A
c.1766G>T (p.Arg589Leu)
4g.47936953C=CA1455551778CNGA1,NIPAL1c.1529G= (p.Arg510=)
c.1541G= (p.Arg514=)
c.1748G= (p.Arg583=)
n.479-22071C=
n.563+22249C=
c.1766G= (p.Arg589=)
4g.47936953C>GCA356825346CNGA1,NIPAL1c.1529G>C (p.Arg510Pro)
c.1541G>C (p.Arg514Pro)
c.1748G>C (p.Arg583Pro)
n.479-22071C>G
n.563+22249C>G
c.1766G>C (p.Arg589Pro)
4g.47936953C>TCA2911060CNGA1,NIPAL1c.1529G>A (p.Arg510Gln)
c.1541G>A (p.Arg514Gln)
c.1748G>A (p.Arg583Gln)
n.479-22071C>T
n.563+22249C>T
c.1766G>A (p.Arg589Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.47936954G>ACA2911061CNGA1,NIPAL1c.1528C>T (p.Arg510Ter)
c.1540C>T (p.Arg514Ter)
c.1747C>T (p.Arg583Ter)
n.479-22070G>A
n.563+22250G>A
c.1765C>T (p.Arg589Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936954G>CCA356825350CNGA1,NIPAL1c.1528C>G (p.Arg510Gly)
c.1540C>G (p.Arg514Gly)
c.1747C>G (p.Arg583Gly)
n.479-22070G>C
n.563+22250G>C
c.1765C>G (p.Arg589Gly)
4g.47936954G=CA1455551779CNGA1,NIPAL1c.1528C= (p.Arg510=)
c.1540C= (p.Arg514=)
c.1747C= (p.Arg583=)
n.479-22070G=
n.563+22250G=
c.1765C= (p.Arg589=)
4g.47936954G>TCA439403830CNGA1,NIPAL1c.1528C>A (p.Arg510=)
c.1540C>A (p.Arg514=)
c.1747C>A (p.Arg583=)
n.479-22070G>T
n.563+22250G>T
c.1765C>A (p.Arg589=)
 gnomAD v4
4g.47936955T>ACA439403834CNGA1,NIPAL1c.1527A>T (p.Gly509=)
c.1539A>T (p.Gly513=)
c.1746A>T (p.Gly582=)
n.479-22069T>A
n.563+22251T>A
c.1764A>T (p.Gly588=)
4g.47936955T>CCA439403831CNGA1,NIPAL1c.1527A>G (p.Gly509=)
c.1539A>G (p.Gly513=)
c.1746A>G (p.Gly582=)
n.479-22069T>C
n.563+22251T>C
c.1764A>G (p.Gly588=)
4g.47936955T>GCA439403832CNGA1,NIPAL1c.1527A>C (p.Gly509=)
c.1539A>C (p.Gly513=)
c.1746A>C (p.Gly582=)
n.479-22069T>G
n.563+22251T>G
c.1764A>C (p.Gly588=)
4g.47936956C>ACA356825353CNGA1,NIPAL1c.1526G>T (p.Gly509Val)
c.1538G>T (p.Gly513Val)
c.1745G>T (p.Gly582Val)
n.479-22068C>A
n.563+22252C>A
c.1763G>T (p.Gly588Val)
4g.47936956C=CA1455551780CNGA1,NIPAL1c.1526G= (p.Gly509=)
c.1538G= (p.Gly513=)
c.1745G= (p.Gly582=)
n.479-22068C=
n.563+22252C=
c.1763G= (p.Gly588=)
4g.47936956C>GCA356825354CNGA1,NIPAL1c.1526G>C (p.Gly509Ala)
c.1538G>C (p.Gly513Ala)
c.1745G>C (p.Gly582Ala)
n.479-22068C>G
n.563+22252C>G
c.1763G>C (p.Gly588Ala)
4g.47936956C>TCA96688521CNGA1,NIPAL1c.1526G>A (p.Gly509Glu)
c.1538G>A (p.Gly513Glu)
c.1745G>A (p.Gly582Glu)
n.479-22068C>T
n.563+22252C>T
c.1763G>A (p.Gly588Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936957C>ACA356825358CNGA1,NIPAL1c.1525G>T (p.Gly509Ter)
c.1537G>T (p.Gly513Ter)
c.1744G>T (p.Gly582Ter)
n.479-22067C>A
n.563+22253C>A
c.1762G>T (p.Gly588Ter)
4g.47936957C=CA1455551781CNGA1,NIPAL1c.1525G= (p.Gly509=)
c.1537G= (p.Gly513=)
c.1744G= (p.Gly582=)
n.479-22067C=
n.563+22253C=
c.1762G= (p.Gly588=)
4g.47936957C>GCA356825360CNGA1,NIPAL1c.1525G>C (p.Gly509Arg)
c.1537G>C (p.Gly513Arg)
c.1744G>C (p.Gly582Arg)
n.479-22067C>G
n.563+22253C>G
c.1762G>C (p.Gly588Arg)
4g.47936957C>TCA2911062CNGA1,NIPAL1c.1525G>A (p.Gly509Arg)
c.1537G>A (p.Gly513Arg)
c.1744G>A (p.Gly582Arg)
n.479-22067C>T
n.563+22253C>T
c.1762G>A (p.Gly588Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936958G>ACA2911063CNGA1,NIPAL1c.1524C>T (p.Ile508=)
c.1536C>T (p.Ile512=)
c.1743C>T (p.Ile581=)
n.479-22066G>A
n.563+22254G>A
c.1761C>T (p.Ile587=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936958G>CCA356825363CNGA1,NIPAL1c.1524C>G (p.Ile508Met)
c.1536C>G (p.Ile512Met)
c.1743C>G (p.Ile581Met)
n.479-22066G>C
n.563+22254G>C
c.1761C>G (p.Ile587Met)
4g.47936958G=CA1455551782CNGA1,NIPAL1c.1524C= (p.Ile508=)
c.1536C= (p.Ile512=)
c.1743C= (p.Ile581=)
n.479-22066G=
n.563+22254G=
c.1761C= (p.Ile587=)
4g.47936958G>TCA439403836CNGA1,NIPAL1c.1524C>A (p.Ile508=)
c.1536C>A (p.Ile512=)
c.1743C>A (p.Ile581=)
n.479-22066G>T
n.563+22254G>T
c.1761C>A (p.Ile587=)
4g.47936959A>CCA356825369CNGA1,NIPAL1c.1523T>G (p.Ile508Ser)
c.1535T>G (p.Ile512Ser)
c.1742T>G (p.Ile581Ser)
n.479-22065A>C
n.563+22255A>C
c.1760T>G (p.Ile587Ser)
4g.47936959A>GCA356825367CNGA1,NIPAL1c.1523T>C (p.Ile508Thr)
c.1535T>C (p.Ile512Thr)
c.1742T>C (p.Ile581Thr)
n.479-22065A>G
n.563+22255A>G
c.1760T>C (p.Ile587Thr)
 gnomAD v4
4g.47936959A>TCA356825365CNGA1,NIPAL1c.1523T>A (p.Ile508Asn)
c.1535T>A (p.Ile512Asn)
c.1742T>A (p.Ile581Asn)
n.479-22065A>T
n.563+22255A>T
c.1760T>A (p.Ile587Asn)
4g.47936960T>ACA356825375CNGA1,NIPAL1c.1522A>T (p.Ile508Phe)
c.1534A>T (p.Ile512Phe)
c.1741A>T (p.Ile581Phe)
n.479-22064T>A
n.563+22256T>A
c.1759A>T (p.Ile587Phe)
4g.47936960T>CCA356825371CNGA1,NIPAL1c.1522A>G (p.Ile508Val)
c.1534A>G (p.Ile512Val)
c.1741A>G (p.Ile581Val)
n.479-22064T>C
n.563+22256T>C
c.1759A>G (p.Ile587Val)
 dbSNP gnomAD v4
4g.47936960T>GCA356825373CNGA1,NIPAL1c.1522A>C (p.Ile508Leu)
c.1534A>C (p.Ile512Leu)
c.1741A>C (p.Ile581Leu)
n.479-22064T>G
n.563+22256T>G
c.1759A>C (p.Ile587Leu)
4g.47936960T=CA1455551783CNGA1,NIPAL1c.1522A= (p.Ile508=)
c.1534A= (p.Ile512=)
c.1741A= (p.Ile581=)
n.479-22064T=
n.563+22256T=
c.1759A= (p.Ile587=)
4g.47936961A>CCA356825377CNGA1,NIPAL1c.1521T>G (p.Asp507Glu)
c.1533T>G (p.Asp511Glu)
c.1740T>G (p.Asp580Glu)
n.479-22063A>C
n.563+22257A>C
c.1758T>G (p.Asp586Glu)
4g.47936961A>GCA439403840CNGA1,NIPAL1c.1521T>C (p.Asp507=)
c.1533T>C (p.Asp511=)
c.1740T>C (p.Asp580=)
n.479-22063A>G
n.563+22257A>G
c.1758T>C (p.Asp586=)
4g.47936961A>TCA356825379CNGA1,NIPAL1c.1521T>A (p.Asp507Glu)
c.1533T>A (p.Asp511Glu)
c.1740T>A (p.Asp580Glu)
n.479-22063A>T
n.563+22257A>T
c.1758T>A (p.Asp586Glu)
4g.47936962T>ACA356825381CNGA1,NIPAL1c.1520A>T (p.Asp507Val)
c.1532A>T (p.Asp511Val)
c.1739A>T (p.Asp580Val)
n.479-22062T>A
n.563+22258T>A
c.1757A>T (p.Asp586Val)
4g.47936962T>CCA356825383CNGA1,NIPAL1c.1520A>G (p.Asp507Gly)
c.1532A>G (p.Asp511Gly)
c.1739A>G (p.Asp580Gly)
n.479-22062T>C
n.563+22258T>C
c.1757A>G (p.Asp586Gly)
4g.47936962T>GCA356825385CNGA1,NIPAL1c.1520A>C (p.Asp507Ala)
c.1532A>C (p.Asp511Ala)
c.1739A>C (p.Asp580Ala)
n.479-22062T>G
n.563+22258T>G
c.1757A>C (p.Asp586Ala)
4g.47936963C>ACA356825387CNGA1,NIPAL1c.1519G>T (p.Asp507Tyr)
c.1531G>T (p.Asp511Tyr)
c.1738G>T (p.Asp580Tyr)
n.479-22061C>A
n.563+22259C>A
c.1756G>T (p.Asp586Tyr)
4g.47936963C=CA1455551784CNGA1,NIPAL1c.1519G= (p.Asp507=)
c.1531G= (p.Asp511=)
c.1738G= (p.Asp580=)
n.479-22061C=
n.563+22259C=
c.1756G= (p.Asp586=)
4g.47936963C>GCA356825389CNGA1,NIPAL1c.1519G>C (p.Asp507His)
c.1531G>C (p.Asp511His)
c.1738G>C (p.Asp580His)
n.479-22061C>G
n.563+22259C>G
c.1756G>C (p.Asp586His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47936963C>TCA356825390CNGA1,NIPAL1c.1519G>A (p.Asp507Asn)
c.1531G>A (p.Asp511Asn)
c.1738G>A (p.Asp580Asn)
n.479-22061C>T
n.563+22259C>T
c.1756G>A (p.Asp586Asn)
4g.47936964C>ACA439403845CNGA1,NIPAL1c.1518G>T (p.Gly506=)
c.1530G>T (p.Gly510=)
c.1737G>T (p.Gly579=)
n.479-22060C>A
n.563+22260C>A
c.1755G>T (p.Gly585=)
4g.47936964C=CA1455551785CNGA1,NIPAL1c.1518G= (p.Gly506=)
c.1530G= (p.Gly510=)
c.1737G= (p.Gly579=)
n.479-22060C=
n.563+22260C=
c.1755G= (p.Gly585=)
4g.47936964C>GCA439403846CNGA1,NIPAL1c.1518G>C (p.Gly506=)
c.1530G>C (p.Gly510=)
c.1737G>C (p.Gly579=)
n.479-22060C>G
n.563+22260C>G
c.1755G>C (p.Gly585=)
 dbSNP gnomAD v3 gnomAD v4
4g.47936964C>TCA439403847CNGA1,NIPAL1c.1518G>A (p.Gly506=)
c.1530G>A (p.Gly510=)
c.1737G>A (p.Gly579=)
n.479-22060C>T
n.563+22260C>T
c.1755G>A (p.Gly585=)
 gnomAD v4

Number of alleles fetched