Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.47936800A=CA1455551714CNGA1,NIPAL1c.1682T= (p.Ile561=)
c.1694T= (p.Ile565=)
c.1901T= (p.Ile634=)
n.478+22096A=
n.563+22096A=
c.1919T= (p.Ile640=)
4g.47936800A>CCA2911030CNGA1,NIPAL1c.1682T>G (p.Ile561Ser)
c.1694T>G (p.Ile565Ser)
c.1901T>G (p.Ile634Ser)
n.478+22096A>C
n.563+22096A>C
c.1919T>G (p.Ile640Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936800A>GCA356824451CNGA1,NIPAL1c.1682T>C (p.Ile561Thr)
c.1694T>C (p.Ile565Thr)
c.1901T>C (p.Ile634Thr)
n.478+22096A>G
n.563+22096A>G
c.1919T>C (p.Ile640Thr)
4g.47936800A>TCA356824454CNGA1,NIPAL1c.1682T>A (p.Ile561Asn)
c.1694T>A (p.Ile565Asn)
c.1901T>A (p.Ile634Asn)
n.478+22096A>T
n.563+22096A>T
c.1919T>A (p.Ile640Asn)
4g.47936801T>ACA356824457CNGA1,NIPAL1c.1681A>T (p.Ile561Phe)
c.1693A>T (p.Ile565Phe)
c.1900A>T (p.Ile634Phe)
n.478+22097T>A
n.563+22097T>A
c.1918A>T (p.Ile640Phe)
4g.47936801T>CCA356824459CNGA1,NIPAL1c.1681A>G (p.Ile561Val)
c.1693A>G (p.Ile565Val)
c.1900A>G (p.Ile634Val)
n.478+22097T>C
n.563+22097T>C
c.1918A>G (p.Ile640Val)
 gnomAD v4
4g.47936801T>GCA356824461CNGA1,NIPAL1c.1681A>C (p.Ile561Leu)
c.1693A>C (p.Ile565Leu)
c.1900A>C (p.Ile634Leu)
n.478+22097T>G
n.563+22097T>G
c.1918A>C (p.Ile640Leu)
4g.47936802A>CCA356824464CNGA1,NIPAL1c.1680T>G (p.Asn560Lys)
c.1692T>G (p.Asn564Lys)
c.1899T>G (p.Asn633Lys)
n.478+22098A>C
n.563+22098A>C
c.1917T>G (p.Asn639Lys)
4g.47936802A>GCA439404035CNGA1,NIPAL1c.1680T>C (p.Asn560=)
c.1692T>C (p.Asn564=)
c.1899T>C (p.Asn633=)
n.478+22098A>G
n.563+22098A>G
c.1917T>C (p.Asn639=)
4g.47936802A>TCA356824467CNGA1,NIPAL1c.1680T>A (p.Asn560Lys)
c.1692T>A (p.Asn564Lys)
c.1899T>A (p.Asn633Lys)
n.478+22098A>T
n.563+22098A>T
c.1917T>A (p.Asn639Lys)
4g.47936803T>ACA356824471CNGA1,NIPAL1c.1679A>T (p.Asn560Ile)
c.1691A>T (p.Asn564Ile)
c.1898A>T (p.Asn633Ile)
n.478+22099T>A
n.563+22099T>A
c.1916A>T (p.Asn639Ile)
4g.47936803T>CCA356824474CNGA1,NIPAL1c.1679A>G (p.Asn560Ser)
c.1691A>G (p.Asn564Ser)
c.1898A>G (p.Asn633Ser)
n.478+22099T>C
n.563+22099T>C
c.1916A>G (p.Asn639Ser)
4g.47936803T>GCA356824476CNGA1,NIPAL1c.1679A>C (p.Asn560Thr)
c.1691A>C (p.Asn564Thr)
c.1898A>C (p.Asn633Thr)
n.478+22099T>G
n.563+22099T>G
c.1916A>C (p.Asn639Thr)
4g.47936804T>ACA356824481CNGA1,NIPAL1c.1678A>T (p.Asn560Tyr)
c.1690A>T (p.Asn564Tyr)
c.1897A>T (p.Asn633Tyr)
n.478+22100T>A
n.563+22100T>A
c.1915A>T (p.Asn639Tyr)
4g.47936804T>CCA356824484CNGA1,NIPAL1c.1678A>G (p.Asn560Asp)
c.1690A>G (p.Asn564Asp)
c.1897A>G (p.Asn633Asp)
n.478+22100T>C
n.563+22100T>C
c.1915A>G (p.Asn639Asp)
4g.47936804T>GCA356824479CNGA1,NIPAL1c.1678A>C (p.Asn560His)
c.1690A>C (p.Asn564His)
c.1897A>C (p.Asn633His)
n.478+22100T>G
n.563+22100T>G
c.1915A>C (p.Asn639His)
4g.47936805G>ACA439404037CNGA1,NIPAL1c.1677C>T (p.Ala559=)
c.1689C>T (p.Ala563=)
c.1896C>T (p.Ala632=)
n.478+22101G>A
n.563+22101G>A
c.1914C>T (p.Ala638=)
4g.47936805G>CCA439404038CNGA1,NIPAL1c.1677C>G (p.Ala559=)
c.1689C>G (p.Ala563=)
c.1896C>G (p.Ala632=)
n.478+22101G>C
n.563+22101G>C
c.1914C>G (p.Ala638=)
4g.47936805G>TCA439404040CNGA1,NIPAL1c.1677C>A (p.Ala559=)
c.1689C>A (p.Ala563=)
c.1896C>A (p.Ala632=)
n.478+22101G>T
n.563+22101G>T
c.1914C>A (p.Ala638=)
4g.47936806G>ACA356824488CNGA1,NIPAL1c.1676C>T (p.Ala559Val)
c.1688C>T (p.Ala563Val)
c.1895C>T (p.Ala632Val)
n.478+22102G>A
n.563+22102G>A
c.1913C>T (p.Ala638Val)
4g.47936806G>CCA356824491CNGA1,NIPAL1c.1676C>G (p.Ala559Gly)
c.1688C>G (p.Ala563Gly)
c.1895C>G (p.Ala632Gly)
n.478+22102G>C
n.563+22102G>C
c.1913C>G (p.Ala638Gly)
4g.47936806G>TCA356824494CNGA1,NIPAL1c.1676C>A (p.Ala559Asp)
c.1688C>A (p.Ala563Asp)
c.1895C>A (p.Ala632Asp)
n.478+22102G>T
n.563+22102G>T
c.1913C>A (p.Ala638Asp)
4g.47936807C>ACA356824496CNGA1,NIPAL1c.1675G>T (p.Ala559Ser)
c.1687G>T (p.Ala563Ser)
c.1894G>T (p.Ala632Ser)
n.478+22103C>A
n.563+22103C>A
c.1912G>T (p.Ala638Ser)
 dbSNP
4g.47936807C=CA1455551715CNGA1,NIPAL1c.1675G= (p.Ala559=)
c.1687G= (p.Ala563=)
c.1894G= (p.Ala632=)
n.478+22103C=
n.563+22103C=
c.1912G= (p.Ala638=)
4g.47936807C>GCA356824499CNGA1,NIPAL1c.1675G>C (p.Ala559Pro)
c.1687G>C (p.Ala563Pro)
c.1894G>C (p.Ala632Pro)
n.478+22103C>G
n.563+22103C>G
c.1912G>C (p.Ala638Pro)
4g.47936807C>TCA356824503CNGA1,NIPAL1c.1675G>A (p.Ala559Thr)
c.1687G>A (p.Ala563Thr)
c.1894G>A (p.Ala632Thr)
n.478+22103C>T
n.563+22103C>T
c.1912G>A (p.Ala638Thr)
 gnomAD v4
4g.47936808C>ACA439404045CNGA1,NIPAL1c.1674G>T (p.Thr558=)
c.1686G>T (p.Thr562=)
c.1893G>T (p.Thr631=)
n.478+22104C>A
n.563+22104C>A
c.1911G>T (p.Thr637=)
4g.47936808C=CA1455551716CNGA1,NIPAL1c.1674G= (p.Thr558=)
c.1686G= (p.Thr562=)
c.1893G= (p.Thr631=)
n.478+22104C=
n.563+22104C=
c.1911G= (p.Thr637=)
4g.47936808C>GCA439404046CNGA1,NIPAL1c.1674G>C (p.Thr558=)
c.1686G>C (p.Thr562=)
c.1893G>C (p.Thr631=)
n.478+22104C>G
n.563+22104C>G
c.1911G>C (p.Thr637=)
4g.47936808C>TCA439404047CNGA1,NIPAL1c.1674G>A (p.Thr558=)
c.1686G>A (p.Thr562=)
c.1893G>A (p.Thr631=)
n.478+22104C>T
n.563+22104C>T
c.1911G>A (p.Thr637=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936809G>ACA2911031CNGA1,NIPAL1c.1673C>T (p.Thr558Met)
c.1685C>T (p.Thr562Met)
c.1892C>T (p.Thr631Met)
n.478+22105G>A
n.563+22105G>A
c.1910C>T (p.Thr637Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936809G>CCA356824506CNGA1,NIPAL1c.1673C>G (p.Thr558Arg)
c.1685C>G (p.Thr562Arg)
c.1892C>G (p.Thr631Arg)
n.478+22105G>C
n.563+22105G>C
c.1910C>G (p.Thr637Arg)
4g.47936809G=CA1455551717CNGA1,NIPAL1c.1673C= (p.Thr558=)
c.1685C= (p.Thr562=)
c.1892C= (p.Thr631=)
n.478+22105G=
n.563+22105G=
c.1910C= (p.Thr637=)
4g.47936809G>TCA356824509CNGA1,NIPAL1c.1673C>A (p.Thr558Lys)
c.1685C>A (p.Thr562Lys)
c.1892C>A (p.Thr631Lys)
n.478+22105G>T
n.563+22105G>T
c.1910C>A (p.Thr637Lys)
 COSMIC
4g.47936810T>ACA356824515CNGA1,NIPAL1c.1672A>T (p.Thr558Ser)
c.1684A>T (p.Thr562Ser)
c.1891A>T (p.Thr631Ser)
n.478+22106T>A
n.563+22106T>A
c.1909A>T (p.Thr637Ser)
4g.47936810T>CCA356824518CNGA1,NIPAL1c.1672A>G (p.Thr558Ala)
c.1684A>G (p.Thr562Ala)
c.1891A>G (p.Thr631Ala)
n.478+22106T>C
n.563+22106T>C
c.1909A>G (p.Thr637Ala)
4g.47936810T>GCA356824520CNGA1,NIPAL1c.1672A>C (p.Thr558Pro)
c.1684A>C (p.Thr562Pro)
c.1891A>C (p.Thr631Pro)
n.478+22106T>G
n.563+22106T>G
c.1909A>C (p.Thr637Pro)
 dbSNP
4g.47936810T=CA1455551718CNGA1,NIPAL1c.1672A= (p.Thr558=)
c.1684A= (p.Thr562=)
c.1891A= (p.Thr631=)
n.478+22106T=
n.563+22106T=
c.1909A= (p.Thr637=)
4g.47936811T>ACA356824525CNGA1,NIPAL1c.1671A>T (p.Arg557Ser)
c.1683A>T (p.Arg561Ser)
c.1890A>T (p.Arg630Ser)
n.478+22107T>A
n.563+22107T>A
c.1908A>T (p.Arg636Ser)
4g.47936811T>CCA439404049CNGA1,NIPAL1c.1671A>G (p.Arg557=)
c.1683A>G (p.Arg561=)
c.1890A>G (p.Arg630=)
n.478+22107T>C
n.563+22107T>C
c.1908A>G (p.Arg636=)
 gnomAD v4
4g.47936811T>GCA356824527CNGA1,NIPAL1c.1671A>C (p.Arg557Ser)
c.1683A>C (p.Arg561Ser)
c.1890A>C (p.Arg630Ser)
n.478+22107T>G
n.563+22107T>G
c.1908A>C (p.Arg636Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.47936811T=CA1455551719CNGA1,NIPAL1c.1671A= (p.Arg557=)
c.1683A= (p.Arg561=)
c.1890A= (p.Arg630=)
n.478+22107T=
n.563+22107T=
c.1908A= (p.Arg636=)
4g.47936812C>ACA356824535CNGA1,NIPAL1c.1670G>T (p.Arg557Ile)
c.1682G>T (p.Arg561Ile)
c.1889G>T (p.Arg630Ile)
n.478+22108C>A
n.563+22108C>A
c.1907G>T (p.Arg636Ile)
4g.47936812C>GCA356824533CNGA1,NIPAL1c.1670G>C (p.Arg557Thr)
c.1682G>C (p.Arg561Thr)
c.1889G>C (p.Arg630Thr)
n.478+22108C>G
n.563+22108C>G
c.1907G>C (p.Arg636Thr)
4g.47936812C>TCA356824531CNGA1,NIPAL1c.1670G>A (p.Arg557Lys)
c.1682G>A (p.Arg561Lys)
c.1889G>A (p.Arg630Lys)
n.478+22108C>T
n.563+22108C>T
c.1907G>A (p.Arg636Lys)
4g.47936813T>ACA356824540CNGA1,NIPAL1c.1669A>T (p.Arg557Ter)
c.1681A>T (p.Arg561Ter)
c.1888A>T (p.Arg630Ter)
n.478+22109T>A
n.563+22109T>A
c.1906A>T (p.Arg636Ter)
4g.47936813T>CCA356824541CNGA1,NIPAL1c.1669A>G (p.Arg557Gly)
c.1681A>G (p.Arg561Gly)
c.1888A>G (p.Arg630Gly)
n.478+22109T>C
n.563+22109T>C
c.1906A>G (p.Arg636Gly)
4g.47936813T>GCA439404051CNGA1,NIPAL1c.1669A>C (p.Arg557=)
c.1681A>C (p.Arg561=)
c.1888A>C (p.Arg630=)
n.478+22109T>G
n.563+22109T>G
c.1906A>C (p.Arg636=)
 gnomAD v4
4g.47936814T>ACA439404052CNGA1,NIPAL1c.1668A>T (p.Arg556=)
c.1680A>T (p.Arg560=)
c.1887A>T (p.Arg629=)
n.478+22110T>A
n.563+22110T>A
c.1905A>T (p.Arg635=)
4g.47936814T>CCA439404054CNGA1,NIPAL1c.1668A>G (p.Arg556=)
c.1680A>G (p.Arg560=)
c.1887A>G (p.Arg629=)
n.478+22110T>C
n.563+22110T>C
c.1905A>G (p.Arg635=)
4g.47936814T>GCA439404053CNGA1,NIPAL1c.1668A>C (p.Arg556=)
c.1680A>C (p.Arg560=)
c.1887A>C (p.Arg629=)
n.478+22110T>G
n.563+22110T>G
c.1905A>C (p.Arg635=)
4g.47936815C>ACA356824544CNGA1,NIPAL1c.1667G>T (p.Arg556Leu)
c.1679G>T (p.Arg560Leu)
c.1886G>T (p.Arg629Leu)
n.478+22111C>A
n.563+22111C>A
c.1904G>T (p.Arg635Leu)
4g.47936815C=CA1455551720CNGA1,NIPAL1c.1667G= (p.Arg556=)
c.1679G= (p.Arg560=)
c.1886G= (p.Arg629=)
n.478+22111C=
n.563+22111C=
c.1904G= (p.Arg635=)
4g.47936815C>GCA356824547CNGA1,NIPAL1c.1667G>C (p.Arg556Pro)
c.1679G>C (p.Arg560Pro)
c.1886G>C (p.Arg629Pro)
n.478+22111C>G
n.563+22111C>G
c.1904G>C (p.Arg635Pro)
4g.47936815C>TCA96688276CNGA1,NIPAL1c.1667G>A (p.Arg556Gln)
c.1679G>A (p.Arg560Gln)
c.1886G>A (p.Arg629Gln)
n.478+22111C>T
n.563+22111C>T
c.1904G>A (p.Arg635Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.47936816G>ACA2911032CNGA1,NIPAL1c.1666C>T (p.Arg556Ter)
c.1678C>T (p.Arg560Ter)
c.1885C>T (p.Arg629Ter)
n.478+22112G>A
n.563+22112G>A
c.1903C>T (p.Arg635Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47936816G>CCA356824554CNGA1,NIPAL1c.1666C>G (p.Arg556Gly)
c.1678C>G (p.Arg560Gly)
c.1885C>G (p.Arg629Gly)
n.478+22112G>C
n.563+22112G>C
c.1903C>G (p.Arg635Gly)
 gnomAD v4
4g.47936816G=CA1455551721CNGA1,NIPAL1c.1666C= (p.Arg556=)
c.1678C= (p.Arg560=)
c.1885C= (p.Arg629=)
n.478+22112G=
n.563+22112G=
c.1903C= (p.Arg635=)
4g.47936816G>TCA2911033CNGA1,NIPAL1c.1666C>A (p.Arg556=)
c.1678C>A (p.Arg560=)
c.1885C>A (p.Arg629=)
n.478+22112G>T
n.563+22112G>T
c.1903C>A (p.Arg635=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936817A>CCA356824561CNGA1,NIPAL1c.1665T>G (p.Asn555Lys)
c.1677T>G (p.Asn559Lys)
c.1884T>G (p.Asn628Lys)
n.478+22113A>C
n.563+22113A>C
c.1902T>G (p.Asn634Lys)
4g.47936817A>GCA439404058CNGA1,NIPAL1c.1665T>C (p.Asn555=)
c.1677T>C (p.Asn559=)
c.1884T>C (p.Asn628=)
n.478+22113A>G
n.563+22113A>G
c.1902T>C (p.Asn634=)
4g.47936817A>TCA356824560CNGA1,NIPAL1c.1665T>A (p.Asn555Lys)
c.1677T>A (p.Asn559Lys)
c.1884T>A (p.Asn628Lys)
n.478+22113A>T
n.563+22113A>T
c.1902T>A (p.Asn634Lys)
4g.47936818T>ACA356824565CNGA1,NIPAL1c.1664A>T (p.Asn555Ile)
c.1676A>T (p.Asn559Ile)
c.1883A>T (p.Asn628Ile)
n.478+22114T>A
n.563+22114T>A
c.1901A>T (p.Asn634Ile)
4g.47936818T>CCA2911034CNGA1,NIPAL1c.1664A>G (p.Asn555Ser)
c.1676A>G (p.Asn559Ser)
c.1883A>G (p.Asn628Ser)
n.478+22114T>C
n.563+22114T>C
c.1901A>G (p.Asn634Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936818T>GCA356824569CNGA1,NIPAL1c.1664A>C (p.Asn555Thr)
c.1676A>C (p.Asn559Thr)
c.1883A>C (p.Asn628Thr)
n.478+22114T>G
n.563+22114T>G
c.1901A>C (p.Asn634Thr)
4g.47936818T=CA1455551722CNGA1,NIPAL1c.1664A= (p.Asn555=)
c.1676A= (p.Asn559=)
c.1883A= (p.Asn628=)
n.478+22114T=
n.563+22114T=
c.1901A= (p.Asn634=)
4g.47936819T>ACA356824574CNGA1,NIPAL1c.1663A>T (p.Asn555Tyr)
c.1675A>T (p.Asn559Tyr)
c.1882A>T (p.Asn628Tyr)
n.478+22115T>A
n.563+22115T>A
c.1900A>T (p.Asn634Tyr)
4g.47936819T>CCA356824577CNGA1,NIPAL1c.1663A>G (p.Asn555Asp)
c.1675A>G (p.Asn559Asp)
c.1882A>G (p.Asn628Asp)
n.478+22115T>C
n.563+22115T>C
c.1900A>G (p.Asn634Asp)
4g.47936819T>GCA356824580CNGA1,NIPAL1c.1663A>C (p.Asn555His)
c.1675A>C (p.Asn559His)
c.1882A>C (p.Asn628His)
n.478+22115T>G
n.563+22115T>G
c.1900A>C (p.Asn634His)
4g.47936820G>ACA439404060CNGA1,NIPAL1c.1662C>T (p.Gly554=)
c.1674C>T (p.Gly558=)
c.1881C>T (p.Gly627=)
n.478+22116G>A
n.563+22116G>A
c.1899C>T (p.Gly633=)
 gnomAD v4
4g.47936820G>CCA439404061CNGA1,NIPAL1c.1662C>G (p.Gly554=)
c.1674C>G (p.Gly558=)
c.1881C>G (p.Gly627=)
n.478+22116G>C
n.563+22116G>C
c.1899C>G (p.Gly633=)
4g.47936820G>TCA439404062CNGA1,NIPAL1c.1662C>A (p.Gly554=)
c.1674C>A (p.Gly558=)
c.1881C>A (p.Gly627=)
n.478+22116G>T
n.563+22116G>T
c.1899C>A (p.Gly633=)
4g.47936821C>ACA356824585CNGA1,NIPAL1c.1661G>T (p.Gly554Val)
c.1673G>T (p.Gly558Val)
c.1880G>T (p.Gly627Val)
n.478+22117C>A
n.563+22117C>A
c.1898G>T (p.Gly633Val)
4g.47936821C=CA1455551723CNGA1,NIPAL1c.1661G= (p.Gly554=)
c.1673G= (p.Gly558=)
c.1880G= (p.Gly627=)
n.478+22117C=
n.563+22117C=
c.1898G= (p.Gly633=)
4g.47936821C>GCA356824589CNGA1,NIPAL1c.1661G>C (p.Gly554Ala)
c.1673G>C (p.Gly558Ala)
c.1880G>C (p.Gly627Ala)
n.478+22117C>G
n.563+22117C>G
c.1898G>C (p.Gly633Ala)
4g.47936821C>TCA356824587CNGA1,NIPAL1c.1661G>A (p.Gly554Asp)
c.1673G>A (p.Gly558Asp)
c.1880G>A (p.Gly627Asp)
n.478+22117C>T
n.563+22117C>T
c.1898G>A (p.Gly633Asp)
 dbSNP gnomAD v4
4g.47936822C>ACA356824594CNGA1,NIPAL1c.1660G>T (p.Gly554Cys)
c.1672G>T (p.Gly558Cys)
c.1879G>T (p.Gly627Cys)
n.478+22118C>A
n.563+22118C>A
c.1897G>T (p.Gly633Cys)
4g.47936822C>GCA356824596CNGA1,NIPAL1c.1660G>C (p.Gly554Arg)
c.1672G>C (p.Gly558Arg)
c.1879G>C (p.Gly627Arg)
n.478+22118C>G
n.563+22118C>G
c.1897G>C (p.Gly633Arg)
4g.47936822C>TCA356824598CNGA1,NIPAL1c.1660G>A (p.Gly554Ser)
c.1672G>A (p.Gly558Ser)
c.1879G>A (p.Gly627Ser)
n.478+22118C>T
n.563+22118C>T
c.1897G>A (p.Gly633Ser)
 gnomAD v4
4g.47936823A>CCA439404071CNGA1,NIPAL1c.1659T>G (p.Ala553=)
c.1671T>G (p.Ala557=)
c.1878T>G (p.Ala626=)
n.478+22119A>C
n.563+22119A>C
c.1896T>G (p.Ala632=)
4g.47936823A>GCA439404072CNGA1,NIPAL1c.1659T>C (p.Ala553=)
c.1671T>C (p.Ala557=)
c.1878T>C (p.Ala626=)
n.478+22119A>G
n.563+22119A>G
c.1896T>C (p.Ala632=)
4g.47936823A>TCA439404070CNGA1,NIPAL1c.1659T>A (p.Ala553=)
c.1671T>A (p.Ala557=)
c.1878T>A (p.Ala626=)
n.478+22119A>T
n.563+22119A>T
c.1896T>A (p.Ala632=)
4g.47936824G>ACA356824605CNGA1,NIPAL1c.1658C>T (p.Ala553Val)
c.1670C>T (p.Ala557Val)
c.1877C>T (p.Ala626Val)
n.478+22120G>A
n.563+22120G>A
c.1895C>T (p.Ala632Val)
 gnomAD v4
4g.47936824G>CCA356824607CNGA1,NIPAL1c.1658C>G (p.Ala553Gly)
c.1670C>G (p.Ala557Gly)
c.1877C>G (p.Ala626Gly)
n.478+22120G>C
n.563+22120G>C
c.1895C>G (p.Ala632Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936824G=CA1455551724CNGA1,NIPAL1c.1658C= (p.Ala553=)
c.1670C= (p.Ala557=)
c.1877C= (p.Ala626=)
n.478+22120G=
n.563+22120G=
c.1895C= (p.Ala632=)
4g.47936824G>TCA356824609CNGA1,NIPAL1c.1658C>A (p.Ala553Asp)
c.1670C>A (p.Ala557Asp)
c.1877C>A (p.Ala626Asp)
n.478+22120G>T
n.563+22120G>T
c.1895C>A (p.Ala632Asp)
4g.47936825C>ACA356824613CNGA1,NIPAL1c.1657G>T (p.Ala553Ser)
c.1669G>T (p.Ala557Ser)
c.1876G>T (p.Ala626Ser)
n.478+22121C>A
n.563+22121C>A
c.1894G>T (p.Ala632Ser)
 COSMIC COSMIC
4g.47936825C>GCA356824615CNGA1,NIPAL1c.1657G>C (p.Ala553Pro)
c.1669G>C (p.Ala557Pro)
c.1876G>C (p.Ala626Pro)
n.478+22121C>G
n.563+22121C>G
c.1894G>C (p.Ala632Pro)
4g.47936825C>TCA356824618CNGA1,NIPAL1c.1657G>A (p.Ala553Thr)
c.1669G>A (p.Ala557Thr)
c.1876G>A (p.Ala626Thr)
n.478+22121C>T
n.563+22121C>T
c.1894G>A (p.Ala632Thr)
4g.47936826T>ACA356824623CNGA1,NIPAL1c.1656A>T (p.Lys552Asn)
c.1668A>T (p.Lys556Asn)
c.1875A>T (p.Lys625Asn)
n.478+22122T>A
n.563+22122T>A
c.1893A>T (p.Lys631Asn)
4g.47936826T>CCA439404075CNGA1,NIPAL1c.1656A>G (p.Lys552=)
c.1668A>G (p.Lys556=)
c.1875A>G (p.Lys625=)
n.478+22122T>C
n.563+22122T>C
c.1893A>G (p.Lys631=)
4g.47936826T>GCA356824625CNGA1,NIPAL1c.1656A>C (p.Lys552Asn)
c.1668A>C (p.Lys556Asn)
c.1875A>C (p.Lys625Asn)
n.478+22122T>G
n.563+22122T>G
c.1893A>C (p.Lys631Asn)
 gnomAD v4
4g.47936827T>ACA356824636CNGA1,NIPAL1c.1655A>T (p.Lys552Ile)
c.1667A>T (p.Lys556Ile)
c.1874A>T (p.Lys625Ile)
n.478+22123T>A
n.563+22123T>A
c.1892A>T (p.Lys631Ile)
4g.47936827T>CCA356824633CNGA1,NIPAL1c.1655A>G (p.Lys552Arg)
c.1667A>G (p.Lys556Arg)
c.1874A>G (p.Lys625Arg)
n.478+22123T>C
n.563+22123T>C
c.1892A>G (p.Lys631Arg)
4g.47936827T>GCA356824630CNGA1,NIPAL1c.1655A>C (p.Lys552Thr)
c.1667A>C (p.Lys556Thr)
c.1874A>C (p.Lys625Thr)
n.478+22123T>G
n.563+22123T>G
c.1892A>C (p.Lys631Thr)
4g.47936828T>ACA356824640CNGA1,NIPAL1c.1654A>T (p.Lys552Ter)
c.1666A>T (p.Lys556Ter)
c.1873A>T (p.Lys625Ter)
n.478+22124T>A
n.563+22124T>A
c.1891A>T (p.Lys631Ter)
4g.47936828T>CCA356824642CNGA1,NIPAL1c.1654A>G (p.Lys552Glu)
c.1666A>G (p.Lys556Glu)
c.1873A>G (p.Lys625Glu)
n.478+22124T>C
n.563+22124T>C
c.1891A>G (p.Lys631Glu)
4g.47936828T>GCA356824644CNGA1,NIPAL1c.1654A>C (p.Lys552Gln)
c.1666A>C (p.Lys556Gln)
c.1873A>C (p.Lys625Gln)
n.478+22124T>G
n.563+22124T>G
c.1891A>C (p.Lys631Gln)
4g.47936829G>ACA439404083CNGA1,NIPAL1c.1653C>T (p.Ser551=)
c.1665C>T (p.Ser555=)
c.1872C>T (p.Ser624=)
n.478+22125G>A
n.563+22125G>A
c.1890C>T (p.Ser630=)
4g.47936829G>CCA356824648CNGA1,NIPAL1c.1653C>G (p.Ser551Arg)
c.1665C>G (p.Ser555Arg)
c.1872C>G (p.Ser624Arg)
n.478+22125G>C
n.563+22125G>C
c.1890C>G (p.Ser630Arg)
4g.47936829G>TCA356824651CNGA1,NIPAL1c.1653C>A (p.Ser551Arg)
c.1665C>A (p.Ser555Arg)
c.1872C>A (p.Ser624Arg)
n.478+22125G>T
n.563+22125G>T
c.1890C>A (p.Ser630Arg)
4g.47936830C>ACA356824661CNGA1,NIPAL1c.1652G>T (p.Ser551Ile)
c.1664G>T (p.Ser555Ile)
c.1871G>T (p.Ser624Ile)
n.478+22126C>A
n.563+22126C>A
c.1889G>T (p.Ser630Ile)
4g.47936830C=CA1455551725CNGA1,NIPAL1c.1652G= (p.Ser551=)
c.1664G= (p.Ser555=)
c.1871G= (p.Ser624=)
n.478+22126C=
n.563+22126C=
c.1889G= (p.Ser630=)
4g.47936830C>GCA2911035CNGA1,NIPAL1c.1652G>C (p.Ser551Thr)
c.1664G>C (p.Ser555Thr)
c.1871G>C (p.Ser624Thr)
n.478+22126C>G
n.563+22126C>G
c.1889G>C (p.Ser630Thr)
 dbSNP ExAC gnomAD v2
4g.47936830C>TCA356824656CNGA1,NIPAL1c.1652G>A (p.Ser551Asn)
c.1664G>A (p.Ser555Asn)
c.1871G>A (p.Ser624Asn)
n.478+22126C>T
n.563+22126C>T
c.1889G>A (p.Ser630Asn)
 gnomAD v4
4g.47936831T>ACA356824667CNGA1,NIPAL1c.1651A>T (p.Ser551Cys)
c.1663A>T (p.Ser555Cys)
c.1870A>T (p.Ser624Cys)
n.478+22127T>A
n.563+22127T>A
c.1888A>T (p.Ser630Cys)
4g.47936831T>CCA2911036CNGA1,NIPAL1c.1651A>G (p.Ser551Gly)
c.1663A>G (p.Ser555Gly)
c.1870A>G (p.Ser624Gly)
n.478+22127T>C
n.563+22127T>C
c.1888A>G (p.Ser630Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936831T>GCA356824671CNGA1,NIPAL1c.1651A>C (p.Ser551Arg)
c.1663A>C (p.Ser555Arg)
c.1870A>C (p.Ser624Arg)
n.478+22127T>G
n.563+22127T>G
c.1888A>C (p.Ser630Arg)
4g.47936831T=CA1455551726CNGA1,NIPAL1c.1651A= (p.Ser551=)
c.1663A= (p.Ser555=)
c.1870A= (p.Ser624=)
n.478+22127T=
n.563+22127T=
c.1888A= (p.Ser630=)
4g.47936832C>ACA439404086CNGA1,NIPAL1c.1650G>T (p.Gly550=)
c.1662G>T (p.Gly554=)
c.1869G>T (p.Gly623=)
n.478+22128C>A
n.563+22128C>A
c.1887G>T (p.Gly629=)
4g.47936832C>GCA439404087CNGA1,NIPAL1c.1650G>C (p.Gly550=)
c.1662G>C (p.Gly554=)
c.1869G>C (p.Gly623=)
n.478+22128C>G
n.563+22128C>G
c.1887G>C (p.Gly629=)
4g.47936832C>TCA439404088CNGA1,NIPAL1c.1650G>A (p.Gly550=)
c.1662G>A (p.Gly554=)
c.1869G>A (p.Gly623=)
n.478+22128C>T
n.563+22128C>T
c.1887G>A (p.Gly629=)
4g.47936833C>ACA356824674CNGA1,NIPAL1c.1649G>T (p.Gly550Val)
c.1661G>T (p.Gly554Val)
c.1868G>T (p.Gly623Val)
n.478+22129C>A
n.563+22129C>A
c.1886G>T (p.Gly629Val)
 dbSNP
4g.47936833C=CA1455551727CNGA1,NIPAL1c.1649G= (p.Gly550=)
c.1661G= (p.Gly554=)
c.1868G= (p.Gly623=)
n.478+22129C=
n.563+22129C=
c.1886G= (p.Gly629=)
4g.47936833C>GCA356824677CNGA1,NIPAL1c.1649G>C (p.Gly550Ala)
c.1661G>C (p.Gly554Ala)
c.1868G>C (p.Gly623Ala)
n.478+22129C>G
n.563+22129C>G
c.1886G>C (p.Gly629Ala)
4g.47936833C>TCA356824680CNGA1,NIPAL1c.1649G>A (p.Gly550Glu)
c.1661G>A (p.Gly554Glu)
c.1868G>A (p.Gly623Glu)
n.478+22129C>T
n.563+22129C>T
c.1886G>A (p.Gly629Glu)
 gnomAD v4
4g.47936834C>ACA356824684CNGA1,NIPAL1c.1648G>T (p.Gly550Trp)
c.1660G>T (p.Gly554Trp)
c.1867G>T (p.Gly623Trp)
n.478+22130C>A
n.563+22130C>A
c.1885G>T (p.Gly629Trp)
4g.47936834C=CA1455551728CNGA1,NIPAL1c.1648G= (p.Gly550=)
c.1660G= (p.Gly554=)
c.1867G= (p.Gly623=)
n.478+22130C=
n.563+22130C=
c.1885G= (p.Gly629=)
4g.47936834C>GCA356824689CNGA1,NIPAL1c.1648G>C (p.Gly550Arg)
c.1660G>C (p.Gly554Arg)
c.1867G>C (p.Gly623Arg)
n.478+22130C>G
n.563+22130C>G
c.1885G>C (p.Gly629Arg)
4g.47936834C>TCA356824686CNGA1,NIPAL1c.1648G>A (p.Gly550Arg)
c.1660G>A (p.Gly554Arg)
c.1867G>A (p.Gly623Arg)
n.478+22130C>T
n.563+22130C>T
c.1885G>A (p.Gly629Arg)
 ClinVar dbSNP gnomAD v4
4g.47936835T>ACA356824692CNGA1,NIPAL1c.1647A>T (p.Lys549Asn)
c.1659A>T (p.Lys553Asn)
c.1866A>T (p.Lys622Asn)
n.478+22131T>A
n.563+22131T>A
c.1884A>T (p.Lys628Asn)
4g.47936835T>CCA439404091CNGA1,NIPAL1c.1647A>G (p.Lys549=)
c.1659A>G (p.Lys553=)
c.1866A>G (p.Lys622=)
n.478+22131T>C
n.563+22131T>C
c.1884A>G (p.Lys628=)
4g.47936835T>GCA356824695CNGA1,NIPAL1c.1647A>C (p.Lys549Asn)
c.1659A>C (p.Lys553Asn)
c.1866A>C (p.Lys622Asn)
n.478+22131T>G
n.563+22131T>G
c.1884A>C (p.Lys628Asn)
4g.47936836T>ACA356824699CNGA1,NIPAL1c.1646A>T (p.Lys549Ile)
c.1658A>T (p.Lys553Ile)
c.1865A>T (p.Lys622Ile)
n.478+22132T>A
n.563+22132T>A
c.1883A>T (p.Lys628Ile)
4g.47936836T>CCA356824703CNGA1,NIPAL1c.1646A>G (p.Lys549Arg)
c.1658A>G (p.Lys553Arg)
c.1865A>G (p.Lys622Arg)
n.478+22132T>C
n.563+22132T>C
c.1883A>G (p.Lys628Arg)
4g.47936836T>GCA356824706CNGA1,NIPAL1c.1646A>C (p.Lys549Thr)
c.1658A>C (p.Lys553Thr)
c.1865A>C (p.Lys622Thr)
n.478+22132T>G
n.563+22132T>G
c.1883A>C (p.Lys628Thr)
4g.47936837T>ACA356824708CNGA1,NIPAL1c.1645A>T (p.Lys549Ter)
c.1657A>T (p.Lys553Ter)
c.1864A>T (p.Lys622Ter)
n.478+22133T>A
n.563+22133T>A
c.1882A>T (p.Lys628Ter)
4g.47936837T>CCA356824710CNGA1,NIPAL1c.1645A>G (p.Lys549Glu)
c.1657A>G (p.Lys553Glu)
c.1864A>G (p.Lys622Glu)
n.478+22133T>C
n.563+22133T>C
c.1882A>G (p.Lys628Glu)
4g.47936837T>GCA356824714CNGA1,NIPAL1c.1645A>C (p.Lys549Gln)
c.1657A>C (p.Lys553Gln)
c.1864A>C (p.Lys622Gln)
n.478+22133T>G
n.563+22133T>G
c.1882A>C (p.Lys628Gln)
4g.47936838A=CA1455551729CNGA1,NIPAL1c.1644T= (p.Ile548=)
c.1656T= (p.Ile552=)
c.1863T= (p.Ile621=)
n.478+22134A=
n.563+22134A=
c.1881T= (p.Ile627=)
4g.47936838A>CCA356824717CNGA1,NIPAL1c.1644T>G (p.Ile548Met)
c.1656T>G (p.Ile552Met)
c.1863T>G (p.Ile621Met)
n.478+22134A>C
n.563+22134A>C
c.1881T>G (p.Ile627Met)
 dbSNP
4g.47936838A>GCA439404094CNGA1,NIPAL1c.1644T>C (p.Ile548=)
c.1656T>C (p.Ile552=)
c.1863T>C (p.Ile621=)
n.478+22134A>G
n.563+22134A>G
c.1881T>C (p.Ile627=)
 dbSNP gnomAD v2 gnomAD v4
4g.47936838A>TCA439404095CNGA1,NIPAL1c.1644T>A (p.Ile548=)
c.1656T>A (p.Ile552=)
c.1863T>A (p.Ile621=)
n.478+22134A>T
n.563+22134A>T
c.1881T>A (p.Ile627=)
4g.47936839A=CA1455551730CNGA1,NIPAL1c.1643T= (p.Ile548=)
c.1655T= (p.Ile552=)
c.1862T= (p.Ile621=)
n.478+22135A=
n.563+22135A=
c.1880T= (p.Ile627=)
4g.47936839A>CCA96688299CNGA1,NIPAL1c.1643T>G (p.Ile548Ser)
c.1655T>G (p.Ile552Ser)
c.1862T>G (p.Ile621Ser)
n.478+22135A>C
n.563+22135A>C
c.1880T>G (p.Ile627Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.47936839A>GCA2911037CNGA1,NIPAL1c.1643T>C (p.Ile548Thr)
c.1655T>C (p.Ile552Thr)
c.1862T>C (p.Ile621Thr)
n.478+22135A>G
n.563+22135A>G
c.1880T>C (p.Ile627Thr)
 dbSNP ExAC gnomAD v2
4g.47936839A>TCA356824725CNGA1,NIPAL1c.1643T>A (p.Ile548Asn)
c.1655T>A (p.Ile552Asn)
c.1862T>A (p.Ile621Asn)
n.478+22135A>T
n.563+22135A>T
c.1880T>A (p.Ile627Asn)
4g.47936840T>ACA356824733CNGA1,NIPAL1c.1642A>T (p.Ile548Phe)
c.1654A>T (p.Ile552Phe)
c.1861A>T (p.Ile621Phe)
n.478+22136T>A
n.563+22136T>A
c.1879A>T (p.Ile627Phe)
4g.47936840T>CCA2911038CNGA1,NIPAL1c.1642A>G (p.Ile548Val)
c.1654A>G (p.Ile552Val)
c.1861A>G (p.Ile621Val)
n.478+22136T>C
n.563+22136T>C
c.1879A>G (p.Ile627Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936840T>GCA356824728CNGA1,NIPAL1c.1642A>C (p.Ile548Leu)
c.1654A>C (p.Ile552Leu)
c.1861A>C (p.Ile621Leu)
n.478+22136T>G
n.563+22136T>G
c.1879A>C (p.Ile627Leu)
4g.47936840T=CA1455551731CNGA1,NIPAL1c.1642A= (p.Ile548=)
c.1654A= (p.Ile552=)
c.1861A= (p.Ile621=)
n.478+22136T=
n.563+22136T=
c.1879A= (p.Ile627=)
4g.47936841G>ACA439404098CNGA1,NIPAL1c.1641C>T (p.Asn547=)
c.1653C>T (p.Asn551=)
c.1860C>T (p.Asn620=)
n.478+22137G>A
n.563+22137G>A
c.1878C>T (p.Asn626=)
 dbSNP
4g.47936841G>CCA356824736CNGA1,NIPAL1c.1641C>G (p.Asn547Lys)
c.1653C>G (p.Asn551Lys)
c.1860C>G (p.Asn620Lys)
n.478+22137G>C
n.563+22137G>C
c.1878C>G (p.Asn626Lys)
4g.47936841G=CA1455551732CNGA1,NIPAL1c.1641C= (p.Asn547=)
c.1653C= (p.Asn551=)
c.1860C= (p.Asn620=)
n.478+22137G=
n.563+22137G=
c.1878C= (p.Asn626=)
4g.47936841G>TCA356824740CNGA1,NIPAL1c.1641C>A (p.Asn547Lys)
c.1653C>A (p.Asn551Lys)
c.1860C>A (p.Asn620Lys)
n.478+22137G>T
n.563+22137G>T
c.1878C>A (p.Asn626Lys)
4g.47936842T>ACA356824743CNGA1,NIPAL1c.1640A>T (p.Asn547Ile)
c.1652A>T (p.Asn551Ile)
c.1859A>T (p.Asn620Ile)
n.478+22138T>A
n.563+22138T>A
c.1877A>T (p.Asn626Ile)
4g.47936842T>CCA356824744CNGA1,NIPAL1c.1640A>G (p.Asn547Ser)
c.1652A>G (p.Asn551Ser)
c.1859A>G (p.Asn620Ser)
n.478+22138T>C
n.563+22138T>C
c.1877A>G (p.Asn626Ser)
4g.47936842T>GCA356824746CNGA1,NIPAL1c.1640A>C (p.Asn547Thr)
c.1652A>C (p.Asn551Thr)
c.1859A>C (p.Asn620Thr)
n.478+22138T>G
n.563+22138T>G
c.1877A>C (p.Asn626Thr)
4g.47936843T>ACA356824755CNGA1,NIPAL1c.1639A>T (p.Asn547Tyr)
c.1651A>T (p.Asn551Tyr)
c.1858A>T (p.Asn620Tyr)
n.478+22139T>A
n.563+22139T>A
c.1876A>T (p.Asn626Tyr)
4g.47936843T>CCA356824753CNGA1,NIPAL1c.1639A>G (p.Asn547Asp)
c.1651A>G (p.Asn551Asp)
c.1858A>G (p.Asn620Asp)
n.478+22139T>C
n.563+22139T>C
c.1876A>G (p.Asn626Asp)
4g.47936843T>GCA356824750CNGA1,NIPAL1c.1639A>C (p.Asn547His)
c.1651A>C (p.Asn551His)
c.1858A>C (p.Asn620His)
n.478+22139T>G
n.563+22139T>G
c.1876A>C (p.Asn626His)
4g.47936844A>CCA439404101CNGA1,NIPAL1c.1638T>G (p.Leu546=)
c.1650T>G (p.Leu550=)
c.1857T>G (p.Leu619=)
n.478+22140A>C
n.563+22140A>C
c.1875T>G (p.Leu625=)
4g.47936844A>GCA439404103CNGA1,NIPAL1c.1638T>C (p.Leu546=)
c.1650T>C (p.Leu550=)
c.1857T>C (p.Leu619=)
n.478+22140A>G
n.563+22140A>G
c.1875T>C (p.Leu625=)
4g.47936844A>TCA439404102CNGA1,NIPAL1c.1638T>A (p.Leu546=)
c.1650T>A (p.Leu550=)
c.1857T>A (p.Leu619=)
n.478+22140A>T
n.563+22140A>T
c.1875T>A (p.Leu625=)
4g.47936845A>CCA356824760CNGA1,NIPAL1c.1637T>G (p.Leu546Arg)
c.1649T>G (p.Leu550Arg)
c.1856T>G (p.Leu619Arg)
n.478+22141A>C
n.563+22141A>C
c.1874T>G (p.Leu625Arg)
4g.47936845A>GCA356824762CNGA1,NIPAL1c.1637T>C (p.Leu546Pro)
c.1649T>C (p.Leu550Pro)
c.1856T>C (p.Leu619Pro)
n.478+22141A>G
n.563+22141A>G
c.1874T>C (p.Leu625Pro)
4g.47936845A>TCA356824765CNGA1,NIPAL1c.1637T>A (p.Leu546His)
c.1649T>A (p.Leu550His)
c.1856T>A (p.Leu619His)
n.478+22141A>T
n.563+22141A>T
c.1874T>A (p.Leu625His)
4g.47936846G>ACA356824768CNGA1,NIPAL1c.1636C>T (p.Leu546Phe)
c.1648C>T (p.Leu550Phe)
c.1855C>T (p.Leu619Phe)
n.478+22142G>A
n.563+22142G>A
c.1873C>T (p.Leu625Phe)
4g.47936846G>CCA356824771CNGA1,NIPAL1c.1636C>G (p.Leu546Val)
c.1648C>G (p.Leu550Val)
c.1855C>G (p.Leu619Val)
n.478+22142G>C
n.563+22142G>C
c.1873C>G (p.Leu625Val)
 gnomAD v4
4g.47936846G>TCA356824774CNGA1,NIPAL1c.1636C>A (p.Leu546Ile)
c.1648C>A (p.Leu550Ile)
c.1855C>A (p.Leu619Ile)
n.478+22142G>T
n.563+22142G>T
c.1873C>A (p.Leu625Ile)
4g.47936846_47936847delinsGACA1455551733CNGA1,NIPAL1c.1635_1636delinsTC (p.Ile545=)
c.1647_1648delinsTC (p.Ile549=)
c.1854_1855delinsTC (p.Ile618=)
n.478+22142_478+22143delinsGA
n.563+22142_563+22143delinsGA
c.1872_1873delinsTC (p.Ile624=)
4g.47936847A>CCA356824777CNGA1,NIPAL1c.1635T>G (p.Ile545Met)
c.1647T>G (p.Ile549Met)
c.1854T>G (p.Ile618Met)
n.478+22143A>C
n.563+22143A>C
c.1872T>G (p.Ile624Met)
4g.47936847A>GCA439404108CNGA1,NIPAL1c.1635T>C (p.Ile545=)
c.1647T>C (p.Ile549=)
c.1854T>C (p.Ile618=)
n.478+22143A>G
n.563+22143A>G
c.1872T>C (p.Ile624=)
4g.47936847A>TCA439404109CNGA1,NIPAL1c.1635T>A (p.Ile545=)
c.1647T>A (p.Ile549=)
c.1854T>A (p.Ile618=)
n.478+22143A>T
n.563+22143A>T
c.1872T>A (p.Ile624=)
4g.47936848delCA551650445CNGA1,NIPAL1c.1635del (p.Asn547ThrfsTer?)
c.1647del (p.Asn551ThrfsTer?)
c.1854del (p.Asn620ThrfsTer?)
n.478+22144del
n.563+22144del
c.1872del (p.Asn626ThrfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47936848A>CCA356824781CNGA1,NIPAL1c.1634T>G (p.Ile545Ser)
c.1646T>G (p.Ile549Ser)
c.1853T>G (p.Ile618Ser)
n.478+22144A>C
n.563+22144A>C
c.1871T>G (p.Ile624Ser)
4g.47936848A>GCA356824785CNGA1,NIPAL1c.1634T>C (p.Ile545Thr)
c.1646T>C (p.Ile549Thr)
c.1853T>C (p.Ile618Thr)
n.478+22144A>G
n.563+22144A>G
c.1871T>C (p.Ile624Thr)
4g.47936848A>TCA356824783CNGA1,NIPAL1c.1634T>A (p.Ile545Asn)
c.1646T>A (p.Ile549Asn)
c.1853T>A (p.Ile618Asn)
n.478+22144A>T
n.563+22144A>T
c.1871T>A (p.Ile624Asn)
4g.47936849T>ACA2911039CNGA1,NIPAL1c.1633A>T (p.Ile545Phe)
c.1645A>T (p.Ile549Phe)
c.1852A>T (p.Ile618Phe)
n.478+22145T>A
n.563+22145T>A
c.1870A>T (p.Ile624Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936849T>CCA356824790CNGA1,NIPAL1c.1633A>G (p.Ile545Val)
c.1645A>G (p.Ile549Val)
c.1852A>G (p.Ile618Val)
n.478+22145T>C
n.563+22145T>C
c.1870A>G (p.Ile624Val)
 dbSNP gnomAD v3 gnomAD v4
4g.47936849T>GCA356824795CNGA1,NIPAL1c.1633A>C (p.Ile545Leu)
c.1645A>C (p.Ile549Leu)
c.1852A>C (p.Ile618Leu)
n.478+22145T>G
n.563+22145T>G
c.1870A>C (p.Ile624Leu)
4g.47936849T=CA1455551734CNGA1,NIPAL1c.1633A= (p.Ile545=)
c.1645A= (p.Ile549=)
c.1852A= (p.Ile618=)
n.478+22145T=
n.563+22145T=
c.1870A= (p.Ile624=)
4g.47936850G>ACA439404116CNGA1,NIPAL1c.1632C>T (p.Ser544=)
c.1644C>T (p.Ser548=)
c.1851C>T (p.Ser617=)
n.478+22146G>A
n.563+22146G>A
c.1869C>T (p.Ser623=)
 ClinVar
4g.47936850G>CCA356824798CNGA1,NIPAL1c.1632C>G (p.Ser544Arg)
c.1644C>G (p.Ser548Arg)
c.1851C>G (p.Ser617Arg)
n.478+22146G>C
n.563+22146G>C
c.1869C>G (p.Ser623Arg)
4g.47936850G>TCA356824800CNGA1,NIPAL1c.1632C>A (p.Ser544Arg)
c.1644C>A (p.Ser548Arg)
c.1851C>A (p.Ser617Arg)
n.478+22146G>T
n.563+22146G>T
c.1869C>A (p.Ser623Arg)
4g.47936851C>ACA356824801CNGA1,NIPAL1c.1631G>T (p.Ser544Ile)
c.1643G>T (p.Ser548Ile)
c.1850G>T (p.Ser617Ile)
n.478+22147C>A
n.563+22147C>A
c.1868G>T (p.Ser623Ile)
4g.47936851C>GCA356824802CNGA1,NIPAL1c.1631G>C (p.Ser544Thr)
c.1643G>C (p.Ser548Thr)
c.1850G>C (p.Ser617Thr)
n.478+22147C>G
n.563+22147C>G
c.1868G>C (p.Ser623Thr)
4g.47936851C>TCA356824803CNGA1,NIPAL1c.1631G>A (p.Ser544Asn)
c.1643G>A (p.Ser548Asn)
c.1850G>A (p.Ser617Asn)
n.478+22147C>T
n.563+22147C>T
c.1868G>A (p.Ser623Asn)
4g.47936852T>ACA356824804CNGA1,NIPAL1c.1630A>T (p.Ser544Cys)
c.1642A>T (p.Ser548Cys)
c.1849A>T (p.Ser617Cys)
n.478+22148T>A
n.563+22148T>A
c.1867A>T (p.Ser623Cys)
4g.47936852T>CCA356824805CNGA1,NIPAL1c.1630A>G (p.Ser544Gly)
c.1642A>G (p.Ser548Gly)
c.1849A>G (p.Ser617Gly)
n.478+22148T>C
n.563+22148T>C
c.1867A>G (p.Ser623Gly)
 ClinVar dbSNP gnomAD v4
4g.47936852T>GCA356824806CNGA1,NIPAL1c.1630A>C (p.Ser544Arg)
c.1642A>C (p.Ser548Arg)
c.1849A>C (p.Ser617Arg)
n.478+22148T>G
n.563+22148T>G
c.1867A>C (p.Ser623Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47936852T=CA1455551735CNGA1,NIPAL1c.1630A= (p.Ser544=)
c.1642A= (p.Ser548=)
c.1849A= (p.Ser617=)
n.478+22148T=
n.563+22148T=
c.1867A= (p.Ser623=)
4g.47936853G>ACA96688351CNGA1,NIPAL1c.1629C>T (p.Ile543=)
c.1641C>T (p.Ile547=)
c.1848C>T (p.Ile616=)
n.478+22149G>A
n.563+22149G>A
c.1866C>T (p.Ile622=)
 dbSNP gnomAD v3 gnomAD v4
4g.47936853G>CCA356824812CNGA1,NIPAL1c.1629C>G (p.Ile543Met)
c.1641C>G (p.Ile547Met)
c.1848C>G (p.Ile616Met)
n.478+22149G>C
n.563+22149G>C
c.1866C>G (p.Ile622Met)
4g.47936853G=CA1455551736CNGA1,NIPAL1c.1629C= (p.Ile543=)
c.1641C= (p.Ile547=)
c.1848C= (p.Ile616=)
n.478+22149G=
n.563+22149G=
c.1866C= (p.Ile622=)
4g.47936853G>TCA439404121CNGA1,NIPAL1c.1629C>A (p.Ile543=)
c.1641C>A (p.Ile547=)
c.1848C>A (p.Ile616=)
n.478+22149G>T
n.563+22149G>T
c.1866C>A (p.Ile622=)
 gnomAD v4
4g.47936854A>CCA356824816CNGA1,NIPAL1c.1628T>G (p.Ile543Ser)
c.1640T>G (p.Ile547Ser)
c.1847T>G (p.Ile616Ser)
n.478+22150A>C
n.563+22150A>C
c.1865T>G (p.Ile622Ser)
4g.47936854A>GCA356824822CNGA1,NIPAL1c.1628T>C (p.Ile543Thr)
c.1640T>C (p.Ile547Thr)
c.1847T>C (p.Ile616Thr)
n.478+22150A>G
n.563+22150A>G
c.1865T>C (p.Ile622Thr)
4g.47936854A>TCA356824819CNGA1,NIPAL1c.1628T>A (p.Ile543Asn)
c.1640T>A (p.Ile547Asn)
c.1847T>A (p.Ile616Asn)
n.478+22150A>T
n.563+22150A>T
c.1865T>A (p.Ile622Asn)
4g.47936855T>ACA356824825CNGA1,NIPAL1c.1627A>T (p.Ile543Phe)
c.1639A>T (p.Ile547Phe)
c.1846A>T (p.Ile616Phe)
n.478+22151T>A
n.563+22151T>A
c.1864A>T (p.Ile622Phe)
4g.47936855T>CCA356824826CNGA1,NIPAL1c.1627A>G (p.Ile543Val)
c.1639A>G (p.Ile547Val)
c.1846A>G (p.Ile616Val)
n.478+22151T>C
n.563+22151T>C
c.1864A>G (p.Ile622Val)
4g.47936855T>GCA356824830CNGA1,NIPAL1c.1627A>C (p.Ile543Leu)
c.1639A>C (p.Ile547Leu)
c.1846A>C (p.Ile616Leu)
n.478+22151T>G
n.563+22151T>G
c.1864A>C (p.Ile622Leu)
4g.47936856C>ACA356824834CNGA1,NIPAL1c.1626G>T (p.Glu542Asp)
c.1638G>T (p.Glu546Asp)
c.1845G>T (p.Glu615Asp)
n.478+22152C>A
n.563+22152C>A
c.1863G>T (p.Glu621Asp)
4g.47936856C=CA1455551737CNGA1,NIPAL1c.1626G= (p.Glu542=)
c.1638G= (p.Glu546=)
c.1845G= (p.Glu615=)
n.478+22152C=
n.563+22152C=
c.1863G= (p.Glu621=)
4g.47936856C>GCA356824836CNGA1,NIPAL1c.1626G>C (p.Glu542Asp)
c.1638G>C (p.Glu546Asp)
c.1845G>C (p.Glu615Asp)
n.478+22152C>G
n.563+22152C>G
c.1863G>C (p.Glu621Asp)
 dbSNP gnomAD v2 gnomAD v4
4g.47936856C>TCA439404124CNGA1,NIPAL1c.1626G>A (p.Glu542=)
c.1638G>A (p.Glu546=)
c.1845G>A (p.Glu615=)
n.478+22152C>T
n.563+22152C>T
c.1863G>A (p.Glu621=)
4g.47936857T>ACA356824841CNGA1,NIPAL1c.1625A>T (p.Glu542Val)
c.1637A>T (p.Glu546Val)
c.1844A>T (p.Glu615Val)
n.478+22153T>A
n.563+22153T>A
c.1862A>T (p.Glu621Val)
4g.47936857T>CCA356824840CNGA1,NIPAL1c.1625A>G (p.Glu542Gly)
c.1637A>G (p.Glu546Gly)
c.1844A>G (p.Glu615Gly)
n.478+22153T>C
n.563+22153T>C
c.1862A>G (p.Glu621Gly)
4g.47936857T>GCA356824839CNGA1,NIPAL1c.1625A>C (p.Glu542Ala)
c.1637A>C (p.Glu546Ala)
c.1844A>C (p.Glu615Ala)
n.478+22153T>G
n.563+22153T>G
c.1862A>C (p.Glu621Ala)
4g.47936858C>ACA356824844CNGA1,NIPAL1c.1624G>T (p.Glu542Ter)
c.1636G>T (p.Glu546Ter)
c.1843G>T (p.Glu615Ter)
n.478+22154C>A
n.563+22154C>A
c.1861G>T (p.Glu621Ter)
4g.47936858C=CA1455551738CNGA1,NIPAL1c.1624G= (p.Glu542=)
c.1636G= (p.Glu546=)
c.1843G= (p.Glu615=)
n.478+22154C=
n.563+22154C=
c.1861G= (p.Glu621=)
4g.47936858C>GCA356824847CNGA1,NIPAL1c.1624G>C (p.Glu542Gln)
c.1636G>C (p.Glu546Gln)
c.1843G>C (p.Glu615Gln)
n.478+22154C>G
n.563+22154C>G
c.1861G>C (p.Glu621Gln)
4g.47936858C>TCA356824849CNGA1,NIPAL1c.1624G>A (p.Glu542Lys)
c.1636G>A (p.Glu546Lys)
c.1843G>A (p.Glu615Lys)
n.478+22154C>T
n.563+22154C>T
c.1861G>A (p.Glu621Lys)
 dbSNP gnomAD v4
4g.47936859A>CCA439404130CNGA1,NIPAL1c.1623T>G (p.Gly541=)
c.1635T>G (p.Gly545=)
c.1842T>G (p.Gly614=)
n.478+22155A>C
n.563+22155A>C
c.1860T>G (p.Gly620=)
4g.47936859A>GCA439404128CNGA1,NIPAL1c.1623T>C (p.Gly541=)
c.1635T>C (p.Gly545=)
c.1842T>C (p.Gly614=)
n.478+22155A>G
n.563+22155A>G
c.1860T>C (p.Gly620=)
4g.47936859A>TCA439404127CNGA1,NIPAL1c.1623T>A (p.Gly541=)
c.1635T>A (p.Gly545=)
c.1842T>A (p.Gly614=)
n.478+22155A>T
n.563+22155A>T
c.1860T>A (p.Gly620=)
4g.47936860C>ACA356824853CNGA1,NIPAL1c.1622G>T (p.Gly541Val)
c.1634G>T (p.Gly545Val)
c.1841G>T (p.Gly614Val)
n.478+22156C>A
n.563+22156C>A
c.1859G>T (p.Gly620Val)
4g.47936860C=CA1455551739CNGA1,NIPAL1c.1622G= (p.Gly541=)
c.1634G= (p.Gly545=)
c.1841G= (p.Gly614=)
n.478+22156C=
n.563+22156C=
c.1859G= (p.Gly620=)
4g.47936860C>GCA356824855CNGA1,NIPAL1c.1622G>C (p.Gly541Ala)
c.1634G>C (p.Gly545Ala)
c.1841G>C (p.Gly614Ala)
n.478+22156C>G
n.563+22156C>G
c.1859G>C (p.Gly620Ala)
4g.47936860C>TCA2911040CNGA1,NIPAL1c.1622G>A (p.Gly541Asp)
c.1634G>A (p.Gly545Asp)
c.1841G>A (p.Gly614Asp)
n.478+22156C>T
n.563+22156C>T
c.1859G>A (p.Gly620Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936861C>ACA356824860CNGA1,NIPAL1c.1621G>T (p.Gly541Cys)
c.1633G>T (p.Gly545Cys)
c.1840G>T (p.Gly614Cys)
n.478+22157C>A
n.563+22157C>A
c.1858G>T (p.Gly620Cys)
4g.47936861C=CA1455551740CNGA1,NIPAL1c.1621G= (p.Gly541=)
c.1633G= (p.Gly545=)
c.1840G= (p.Gly614=)
n.478+22157C=
n.563+22157C=
c.1858G= (p.Gly620=)
4g.47936861C>GCA356824865CNGA1,NIPAL1c.1621G>C (p.Gly541Arg)
c.1633G>C (p.Gly545Arg)
c.1840G>C (p.Gly614Arg)
n.478+22157C>G
n.563+22157C>G
c.1858G>C (p.Gly620Arg)
4g.47936861C>TCA270046CNGA1,NIPAL1c.1621G>A (p.Gly541Ser)
c.1633G>A (p.Gly545Ser)
c.1840G>A (p.Gly614Ser)
n.478+22157C>T
n.563+22157C>T
c.1858G>A (p.Gly620Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.47936862G>ACA2911041CNGA1,NIPAL1c.1620C>T (p.Phe540=)
c.1632C>T (p.Phe544=)
c.1839C>T (p.Phe613=)
n.478+22158G>A
n.563+22158G>A
c.1857C>T (p.Phe619=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936862G>CCA356824866CNGA1,NIPAL1c.1620C>G (p.Phe540Leu)
c.1632C>G (p.Phe544Leu)
c.1839C>G (p.Phe613Leu)
n.478+22158G>C
n.563+22158G>C
c.1857C>G (p.Phe619Leu)
4g.47936862G=CA1455551741CNGA1,NIPAL1c.1620C= (p.Phe540=)
c.1632C= (p.Phe544=)
c.1839C= (p.Phe613=)
n.478+22158G=
n.563+22158G=
c.1857C= (p.Phe619=)
4g.47936862G>TCA356824867CNGA1,NIPAL1c.1620C>A (p.Phe540Leu)
c.1632C>A (p.Phe544Leu)
c.1839C>A (p.Phe613Leu)
n.478+22158G>T
n.563+22158G>T
c.1857C>A (p.Phe619Leu)
4g.47936863A=CA1455551742CNGA1,NIPAL1c.1619T= (p.Phe540=)
c.1631T= (p.Phe544=)
c.1838T= (p.Phe613=)
n.478+22159A=
n.563+22159A=
c.1856T= (p.Phe619=)
4g.47936863A>CCA356824868CNGA1,NIPAL1c.1619T>G (p.Phe540Cys)
c.1631T>G (p.Phe544Cys)
c.1838T>G (p.Phe613Cys)
n.478+22159A>C
n.563+22159A>C
c.1856T>G (p.Phe619Cys)
 ClinVar dbSNP
4g.47936863A>GCA356824869CNGA1,NIPAL1c.1619T>C (p.Phe540Ser)
c.1631T>C (p.Phe544Ser)
c.1838T>C (p.Phe613Ser)
n.478+22159A>G
n.563+22159A>G
c.1856T>C (p.Phe619Ser)
4g.47936863A>TCA356824870CNGA1,NIPAL1c.1619T>A (p.Phe540Tyr)
c.1631T>A (p.Phe544Tyr)
c.1838T>A (p.Phe613Tyr)
n.478+22159A>T
n.563+22159A>T
c.1856T>A (p.Phe619Tyr)
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

Number of alleles fetched