Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
 ClinVar 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
4g.47936965C>ACA356825392CNGA1,NIPAL1c.1517G>T (p.Gly506Val)
c.1529G>T (p.Gly510Val)
c.1736G>T (p.Gly579Val)
n.479-22059C>A
n.563+22261C>A
c.1754G>T (p.Gly585Val)
4g.47936965C>GCA356825393CNGA1,NIPAL1c.1517G>C (p.Gly506Ala)
c.1529G>C (p.Gly510Ala)
c.1736G>C (p.Gly579Ala)
n.479-22059C>G
n.563+22261C>G
c.1754G>C (p.Gly585Ala)
4g.47936965C>TCA356825395CNGA1,NIPAL1c.1517G>A (p.Gly506Glu)
c.1529G>A (p.Gly510Glu)
c.1736G>A (p.Gly579Glu)
n.479-22059C>T
n.563+22261C>T
c.1754G>A (p.Gly585Glu)
4g.47936966C>ACA356825400CNGA1,NIPAL1c.1516G>T (p.Gly506Trp)
c.1528G>T (p.Gly510Trp)
c.1735G>T (p.Gly579Trp)
n.479-22058C>A
n.563+22262C>A
c.1753G>T (p.Gly585Trp)
4g.47936966C=CA1455551786CNGA1,NIPAL1c.1516G= (p.Gly506=)
c.1528G= (p.Gly510=)
c.1735G= (p.Gly579=)
n.479-22058C=
n.563+22262C=
c.1753G= (p.Gly585=)
4g.47936966C>GCA356825396CNGA1,NIPAL1c.1516G>C (p.Gly506Arg)
c.1528G>C (p.Gly510Arg)
c.1735G>C (p.Gly579Arg)
n.479-22058C>G
n.563+22262C>G
c.1753G>C (p.Gly585Arg)
4g.47936966C>TCA356825398CNGA1,NIPAL1c.1516G>A (p.Gly506Arg)
c.1528G>A (p.Gly510Arg)
c.1735G>A (p.Gly579Arg)
n.479-22058C>T
n.563+22262C>T
c.1753G>A (p.Gly585Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47936966_47936967delinsCTCA1455551787CNGA1,NIPAL1c.1515_1516delinsAG (p.Lys505=)
c.1527_1528delinsAG (p.Lys509=)
c.1734_1735delinsAG (p.Lys578=)
n.479-22058_479-22057delinsCT
n.563+22262_563+22263delinsCT
c.1752_1753delinsAG (p.Lys584=)
4g.47936967T>ACA356825402CNGA1,NIPAL1c.1515A>T (p.Lys505Asn)
c.1527A>T (p.Lys509Asn)
c.1734A>T (p.Lys578Asn)
n.479-22057T>A
n.563+22263T>A
c.1752A>T (p.Lys584Asn)
4g.47936967T>CCA439403851CNGA1,NIPAL1c.1515A>G (p.Lys505=)
c.1527A>G (p.Lys509=)
c.1734A>G (p.Lys578=)
n.479-22057T>C
n.563+22263T>C
c.1752A>G (p.Lys584=)
 dbSNP gnomAD v3 gnomAD v4
4g.47936967T>GCA356825404CNGA1,NIPAL1c.1515A>C (p.Lys505Asn)
c.1527A>C (p.Lys509Asn)
c.1734A>C (p.Lys578Asn)
n.479-22057T>G
n.563+22263T>G
c.1752A>C (p.Lys584Asn)
4g.47936967T=CA1455551788CNGA1,NIPAL1c.1515A= (p.Lys505=)
c.1527A= (p.Lys509=)
c.1734A= (p.Lys578=)
n.479-22057T=
n.563+22263T=
c.1752A= (p.Lys584=)
4g.47936969delCA795526791CNGA1,NIPAL1c.1515del (p.Asp507IlefsTer28)
c.1527del (p.Asp511IlefsTer28)
c.1734del (p.Asp580IlefsTer28)
n.479-22055del
n.563+22265del
c.1752del (p.Asp586IlefsTer28)
 dbSNP gnomAD v4
4g.47936968T>ACA356825406CNGA1,NIPAL1c.1514A>T (p.Lys505Ile)
c.1526A>T (p.Lys509Ile)
c.1733A>T (p.Lys578Ile)
n.479-22056T>A
n.563+22264T>A
c.1751A>T (p.Lys584Ile)
4g.47936968T>CCA356825408CNGA1,NIPAL1c.1514A>G (p.Lys505Arg)
c.1526A>G (p.Lys509Arg)
c.1733A>G (p.Lys578Arg)
n.479-22056T>C
n.563+22264T>C
c.1751A>G (p.Lys584Arg)
4g.47936968T>GCA356825410CNGA1,NIPAL1c.1514A>C (p.Lys505Thr)
c.1526A>C (p.Lys509Thr)
c.1733A>C (p.Lys578Thr)
n.479-22056T>G
n.563+22264T>G
c.1751A>C (p.Lys584Thr)
4g.47936969T>ACA356825412CNGA1,NIPAL1c.1513A>T (p.Lys505Ter)
c.1525A>T (p.Lys509Ter)
c.1732A>T (p.Lys578Ter)
n.479-22055T>A
n.563+22265T>A
c.1750A>T (p.Lys584Ter)
4g.47936969T>CCA356825414CNGA1,NIPAL1c.1513A>G (p.Lys505Glu)
c.1525A>G (p.Lys509Glu)
c.1732A>G (p.Lys578Glu)
n.479-22055T>C
n.563+22265T>C
c.1750A>G (p.Lys584Glu)
4g.47936969T>GCA356825416CNGA1,NIPAL1c.1513A>C (p.Lys505Gln)
c.1525A>C (p.Lys509Gln)
c.1732A>C (p.Lys578Gln)
n.479-22055T>G
n.563+22265T>G
c.1750A>C (p.Lys584Gln)
 dbSNP gnomAD v2 gnomAD v4
4g.47936969T=CA1455551789CNGA1,NIPAL1c.1513A= (p.Lys505=)
c.1525A= (p.Lys509=)
c.1732A= (p.Lys578=)
n.479-22055T=
n.563+22265T=
c.1750A= (p.Lys584=)
4g.47936970C>ACA356825418CNGA1,NIPAL1c.1512G>T (p.Lys504Asn)
c.1524G>T (p.Lys508Asn)
c.1731G>T (p.Lys577Asn)
n.479-22054C>A
n.563+22266C>A
c.1749G>T (p.Lys583Asn)
4g.47936970C>GCA356825420CNGA1,NIPAL1c.1512G>C (p.Lys504Asn)
c.1524G>C (p.Lys508Asn)
c.1731G>C (p.Lys577Asn)
n.479-22054C>G
n.563+22266C>G
c.1749G>C (p.Lys583Asn)
4g.47936970C>TCA439403861CNGA1,NIPAL1c.1512G>A (p.Lys504=)
c.1524G>A (p.Lys508=)
c.1731G>A (p.Lys577=)
n.479-22054C>T
n.563+22266C>T
c.1749G>A (p.Lys583=)
4g.47936971T>ACA356825422CNGA1,NIPAL1c.1511A>T (p.Lys504Met)
c.1523A>T (p.Lys508Met)
c.1730A>T (p.Lys577Met)
n.479-22053T>A
n.563+22267T>A
c.1748A>T (p.Lys583Met)
4g.47936971T>CCA2911064CNGA1,NIPAL1c.1511A>G (p.Lys504Arg)
c.1523A>G (p.Lys508Arg)
c.1730A>G (p.Lys577Arg)
n.479-22053T>C
n.563+22267T>C
c.1748A>G (p.Lys583Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936971T>GCA356825425CNGA1,NIPAL1c.1511A>C (p.Lys504Thr)
c.1523A>C (p.Lys508Thr)
c.1730A>C (p.Lys577Thr)
n.479-22053T>G
n.563+22267T>G
c.1748A>C (p.Lys583Thr)
4g.47936971T=CA1455551790CNGA1,NIPAL1c.1511A= (p.Lys504=)
c.1523A= (p.Lys508=)
c.1730A= (p.Lys577=)
n.479-22053T=
n.563+22267T=
c.1748A= (p.Lys583=)
4g.47936972T>ACA356825429CNGA1,NIPAL1c.1510A>T (p.Lys504Ter)
c.1522A>T (p.Lys508Ter)
c.1729A>T (p.Lys577Ter)
n.479-22052T>A
n.563+22268T>A
c.1747A>T (p.Lys583Ter)
4g.47936972T>CCA356825431CNGA1,NIPAL1c.1510A>G (p.Lys504Glu)
c.1522A>G (p.Lys508Glu)
c.1729A>G (p.Lys577Glu)
n.479-22052T>C
n.563+22268T>C
c.1747A>G (p.Lys583Glu)
4g.47936972T>GCA356825427CNGA1,NIPAL1c.1510A>C (p.Lys504Gln)
c.1522A>C (p.Lys508Gln)
c.1729A>C (p.Lys577Gln)
n.479-22052T>G
n.563+22268T>G
c.1747A>C (p.Lys583Gln)
4g.47936973G>ACA439403863CNGA1,NIPAL1c.1509C>T (p.Cys503=)
c.1521C>T (p.Cys507=)
c.1728C>T (p.Cys576=)
n.479-22051G>A
n.563+22269G>A
c.1746C>T (p.Cys582=)
 dbSNP
4g.47936973G>CCA356825433CNGA1,NIPAL1c.1509C>G (p.Cys503Trp)
c.1521C>G (p.Cys507Trp)
c.1728C>G (p.Cys576Trp)
n.479-22051G>C
n.563+22269G>C
c.1746C>G (p.Cys582Trp)
4g.47936973G>TCA356825435CNGA1,NIPAL1c.1509C>A (p.Cys503Ter)
c.1521C>A (p.Cys507Ter)
c.1728C>A (p.Cys576Ter)
n.479-22051G>T
n.563+22269G>T
c.1746C>A (p.Cys582Ter)
4g.47936974C>ACA356825437CNGA1,NIPAL1c.1508G>T (p.Cys503Phe)
c.1520G>T (p.Cys507Phe)
c.1727G>T (p.Cys576Phe)
n.479-22050C>A
n.563+22270C>A
c.1745G>T (p.Cys582Phe)
4g.47936974C>GCA356825439CNGA1,NIPAL1c.1508G>C (p.Cys503Ser)
c.1520G>C (p.Cys507Ser)
c.1727G>C (p.Cys576Ser)
n.479-22050C>G
n.563+22270C>G
c.1745G>C (p.Cys582Ser)
4g.47936974C>TCA356825441CNGA1,NIPAL1c.1508G>A (p.Cys503Tyr)
c.1520G>A (p.Cys507Tyr)
c.1727G>A (p.Cys576Tyr)
n.479-22050C>T
n.563+22270C>T
c.1745G>A (p.Cys582Tyr)
4g.47936975A>CCA356825443CNGA1,NIPAL1c.1507T>G (p.Cys503Gly)
c.1519T>G (p.Cys507Gly)
c.1726T>G (p.Cys576Gly)
n.479-22049A>C
n.563+22271A>C
c.1744T>G (p.Cys582Gly)
4g.47936975A>GCA356825444CNGA1,NIPAL1c.1507T>C (p.Cys503Arg)
c.1519T>C (p.Cys507Arg)
c.1726T>C (p.Cys576Arg)
n.479-22049A>G
n.563+22271A>G
c.1744T>C (p.Cys582Arg)
4g.47936975A>TCA356825446CNGA1,NIPAL1c.1507T>A (p.Cys503Ser)
c.1519T>A (p.Cys507Ser)
c.1726T>A (p.Cys576Ser)
n.479-22049A>T
n.563+22271A>T
c.1744T>A (p.Cys582Ser)
4g.47936976A=CA1455551791CNGA1,NIPAL1c.1506T= (p.Ile502=)
c.1518T= (p.Ile506=)
c.1725T= (p.Ile575=)
n.479-22048A=
n.563+22272A=
c.1743T= (p.Ile581=)
4g.47936976A>CCA356825449CNGA1,NIPAL1c.1506T>G (p.Ile502Met)
c.1518T>G (p.Ile506Met)
c.1725T>G (p.Ile575Met)
n.479-22048A>C
n.563+22272A>C
c.1743T>G (p.Ile581Met)
 dbSNP gnomAD v2 gnomAD v4
4g.47936976A>GCA439403867CNGA1,NIPAL1c.1506T>C (p.Ile502=)
c.1518T>C (p.Ile506=)
c.1725T>C (p.Ile575=)
n.479-22048A>G
n.563+22272A>G
c.1743T>C (p.Ile581=)
4g.47936976A>TCA439403868CNGA1,NIPAL1c.1506T>A (p.Ile502=)
c.1518T>A (p.Ile506=)
c.1725T>A (p.Ile575=)
n.479-22048A>T
n.563+22272A>T
c.1743T>A (p.Ile581=)
 dbSNP gnomAD v3 gnomAD v4
4g.47936977A>CCA356825451CNGA1,NIPAL1c.1505T>G (p.Ile502Ser)
c.1517T>G (p.Ile506Ser)
c.1724T>G (p.Ile575Ser)
n.479-22047A>C
n.563+22273A>C
c.1742T>G (p.Ile581Ser)
4g.47936977A>GCA356825453CNGA1,NIPAL1c.1505T>C (p.Ile502Thr)
c.1517T>C (p.Ile506Thr)
c.1724T>C (p.Ile575Thr)
n.479-22047A>G
n.563+22273A>G
c.1742T>C (p.Ile581Thr)
4g.47936977A>TCA356825455CNGA1,NIPAL1c.1505T>A (p.Ile502Asn)
c.1517T>A (p.Ile506Asn)
c.1724T>A (p.Ile575Asn)
n.479-22047A>T
n.563+22273A>T
c.1742T>A (p.Ile581Asn)
4g.47936978T>ACA356825458CNGA1,NIPAL1c.1504A>T (p.Ile502Phe)
c.1516A>T (p.Ile506Phe)
c.1723A>T (p.Ile575Phe)
n.479-22046T>A
n.563+22274T>A
c.1741A>T (p.Ile581Phe)
 COSMIC
4g.47936978T>CCA356825459CNGA1,NIPAL1c.1504A>G (p.Ile502Val)
c.1516A>G (p.Ile506Val)
c.1723A>G (p.Ile575Val)
n.479-22046T>C
n.563+22274T>C
c.1741A>G (p.Ile581Val)
4g.47936978T>GCA356825461CNGA1,NIPAL1c.1504A>C (p.Ile502Leu)
c.1516A>C (p.Ile506Leu)
c.1723A>C (p.Ile575Leu)
n.479-22046T>G
n.563+22274T>G
c.1741A>C (p.Ile581Leu)
4g.47936979A>CCA356825464CNGA1,NIPAL1c.1503T>G (p.Tyr501Ter)
c.1515T>G (p.Tyr505Ter)
c.1722T>G (p.Tyr574Ter)
n.479-22045A>C
n.563+22275A>C
c.1740T>G (p.Tyr580Ter)
4g.47936979A>GCA439403872CNGA1,NIPAL1c.1503T>C (p.Tyr501=)
c.1515T>C (p.Tyr505=)
c.1722T>C (p.Tyr574=)
n.479-22045A>G
n.563+22275A>G
c.1740T>C (p.Tyr580=)
4g.47936979A>TCA356825465CNGA1,NIPAL1c.1503T>A (p.Tyr501Ter)
c.1515T>A (p.Tyr505Ter)
c.1722T>A (p.Tyr574Ter)
n.479-22045A>T
n.563+22275A>T
c.1740T>A (p.Tyr580Ter)
4g.47936980T>ACA356825469CNGA1,NIPAL1c.1502A>T (p.Tyr501Phe)
c.1514A>T (p.Tyr505Phe)
c.1721A>T (p.Tyr574Phe)
n.479-22044T>A
n.563+22276T>A
c.1739A>T (p.Tyr580Phe)
4g.47936980T>CCA356825470CNGA1,NIPAL1c.1502A>G (p.Tyr501Cys)
c.1514A>G (p.Tyr505Cys)
c.1721A>G (p.Tyr574Cys)
n.479-22044T>C
n.563+22276T>C
c.1739A>G (p.Tyr580Cys)
 gnomAD v4
4g.47936980T>GCA356825471CNGA1,NIPAL1c.1502A>C (p.Tyr501Ser)
c.1514A>C (p.Tyr505Ser)
c.1721A>C (p.Tyr574Ser)
n.479-22044T>G
n.563+22276T>G
c.1739A>C (p.Tyr580Ser)
4g.47936981A>CCA356825474CNGA1,NIPAL1c.1501T>G (p.Tyr501Asp)
c.1513T>G (p.Tyr505Asp)
c.1720T>G (p.Tyr574Asp)
n.479-22043A>C
n.563+22277A>C
c.1738T>G (p.Tyr580Asp)
4g.47936981A>GCA356825475CNGA1,NIPAL1c.1501T>C (p.Tyr501His)
c.1513T>C (p.Tyr505His)
c.1720T>C (p.Tyr574His)
n.479-22043A>G
n.563+22277A>G
c.1738T>C (p.Tyr580His)
 gnomAD v4
4g.47936981A>TCA356825477CNGA1,NIPAL1c.1501T>A (p.Tyr501Asn)
c.1513T>A (p.Tyr505Asn)
c.1720T>A (p.Tyr574Asn)
n.479-22043A>T
n.563+22277A>T
c.1738T>A (p.Tyr580Asn)
4g.47936982A>CCA356825480CNGA1,NIPAL1c.1500T>G (p.Asp500Glu)
c.1512T>G (p.Asp504Glu)
c.1719T>G (p.Asp573Glu)
n.479-22042A>C
n.563+22278A>C
c.1737T>G (p.Asp579Glu)
4g.47936982A>GCA439403874CNGA1,NIPAL1c.1500T>C (p.Asp500=)
c.1512T>C (p.Asp504=)
c.1719T>C (p.Asp573=)
n.479-22042A>G
n.563+22278A>G
c.1737T>C (p.Asp579=)
 gnomAD v4
4g.47936982A>TCA356825481CNGA1,NIPAL1c.1500T>A (p.Asp500Glu)
c.1512T>A (p.Asp504Glu)
c.1719T>A (p.Asp573Glu)
n.479-22042A>T
n.563+22278A>T
c.1737T>A (p.Asp579Glu)
4g.47936983T>ACA356825484CNGA1,NIPAL1c.1499A>T (p.Asp500Val)
c.1511A>T (p.Asp504Val)
c.1718A>T (p.Asp573Val)
n.479-22041T>A
n.563+22279T>A
c.1736A>T (p.Asp579Val)
4g.47936983T>CCA2911065CNGA1,NIPAL1c.1499A>G (p.Asp500Gly)
c.1511A>G (p.Asp504Gly)
c.1718A>G (p.Asp573Gly)
n.479-22041T>C
n.563+22279T>C
c.1736A>G (p.Asp579Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936983T>GCA356825486CNGA1,NIPAL1c.1499A>C (p.Asp500Ala)
c.1511A>C (p.Asp504Ala)
c.1718A>C (p.Asp573Ala)
n.479-22041T>G
n.563+22279T>G
c.1736A>C (p.Asp579Ala)
4g.47936983T=CA1455551792CNGA1,NIPAL1c.1499A= (p.Asp500=)
c.1511A= (p.Asp504=)
c.1718A= (p.Asp573=)
n.479-22041T=
n.563+22279T=
c.1736A= (p.Asp579=)
4g.47936984C>ACA356825491CNGA1,NIPAL1c.1498G>T (p.Asp500Tyr)
c.1510G>T (p.Asp504Tyr)
c.1717G>T (p.Asp573Tyr)
n.479-22040C>A
n.563+22280C>A
c.1735G>T (p.Asp579Tyr)
4g.47936984C>GCA356825493CNGA1,NIPAL1c.1498G>C (p.Asp500His)
c.1510G>C (p.Asp504His)
c.1717G>C (p.Asp573His)
n.479-22040C>G
n.563+22280C>G
c.1735G>C (p.Asp579His)
4g.47936984C>TCA356825489CNGA1,NIPAL1c.1498G>A (p.Asp500Asn)
c.1510G>A (p.Asp504Asn)
c.1717G>A (p.Asp573Asn)
n.479-22040C>T
n.563+22280C>T
c.1735G>A (p.Asp579Asn)
4g.47936985T>ACA439403879CNGA1,NIPAL1c.1497A>T (p.Gly499=)
c.1509A>T (p.Gly503=)
c.1716A>T (p.Gly572=)
n.479-22039T>A
n.563+22281T>A
c.1734A>T (p.Gly578=)
4g.47936985T>CCA439403880CNGA1,NIPAL1c.1497A>G (p.Gly499=)
c.1509A>G (p.Gly503=)
c.1716A>G (p.Gly572=)
n.479-22039T>C
n.563+22281T>C
c.1734A>G (p.Gly578=)
4g.47936985T>GCA439403882CNGA1,NIPAL1c.1497A>C (p.Gly499=)
c.1509A>C (p.Gly503=)
c.1716A>C (p.Gly572=)
n.479-22039T>G
n.563+22281T>G
c.1734A>C (p.Gly578=)
4g.47936986C>ACA356825495CNGA1,NIPAL1c.1496G>T (p.Gly499Val)
c.1508G>T (p.Gly503Val)
c.1715G>T (p.Gly572Val)
n.479-22038C>A
n.563+22282C>A
c.1733G>T (p.Gly578Val)
4g.47936986C=CA1455551793CNGA1,NIPAL1c.1496G= (p.Gly499=)
c.1508G= (p.Gly503=)
c.1715G= (p.Gly572=)
n.479-22038C=
n.563+22282C=
c.1733G= (p.Gly578=)
4g.47936986C>GCA2911066CNGA1,NIPAL1c.1496G>C (p.Gly499Ala)
c.1508G>C (p.Gly503Ala)
c.1715G>C (p.Gly572Ala)
n.479-22038C>G
n.563+22282C>G
c.1733G>C (p.Gly578Ala)
 dbSNP ExAC gnomAD v2
4g.47936986C>TCA356825498CNGA1,NIPAL1c.1496G>A (p.Gly499Glu)
c.1508G>A (p.Gly503Glu)
c.1715G>A (p.Gly572Glu)
n.479-22038C>T
n.563+22282C>T
c.1733G>A (p.Gly578Glu)
 gnomAD v4
4g.47936987C>ACA356825500CNGA1,NIPAL1c.1495G>T (p.Gly499Ter)
c.1507G>T (p.Gly503Ter)
c.1714G>T (p.Gly572Ter)
n.479-22037C>A
n.563+22283C>A
c.1732G>T (p.Gly578Ter)
4g.47936987C=CA1455551794CNGA1,NIPAL1c.1495G= (p.Gly499=)
c.1507G= (p.Gly503=)
c.1714G= (p.Gly572=)
n.479-22037C=
n.563+22283C=
c.1732G= (p.Gly578=)
4g.47936987C>GCA356825502CNGA1,NIPAL1c.1495G>C (p.Gly499Arg)
c.1507G>C (p.Gly503Arg)
c.1714G>C (p.Gly572Arg)
n.479-22037C>G
n.563+22283C>G
c.1732G>C (p.Gly578Arg)
 dbSNP
4g.47936987C>TCA356825504CNGA1,NIPAL1c.1495G>A (p.Gly499Arg)
c.1507G>A (p.Gly503Arg)
c.1714G>A (p.Gly572Arg)
n.479-22037C>T
n.563+22283C>T
c.1732G>A (p.Gly578Arg)
4g.47936988A>CCA439403885CNGA1,NIPAL1c.1494T>G (p.Pro498=)
c.1506T>G (p.Pro502=)
c.1713T>G (p.Pro571=)
n.479-22036A>C
n.563+22284A>C
c.1731T>G (p.Pro577=)
4g.47936988A>GCA439403888CNGA1,NIPAL1c.1494T>C (p.Pro498=)
c.1506T>C (p.Pro502=)
c.1713T>C (p.Pro571=)
n.479-22036A>G
n.563+22284A>G
c.1731T>C (p.Pro577=)
 gnomAD v4
4g.47936988A>TCA439403890CNGA1,NIPAL1c.1494T>A (p.Pro498=)
c.1506T>A (p.Pro502=)
c.1713T>A (p.Pro571=)
n.479-22036A>T
n.563+22284A>T
c.1731T>A (p.Pro577=)
4g.47936989G>ACA356825510CNGA1,NIPAL1c.1493C>T (p.Pro498Leu)
c.1505C>T (p.Pro502Leu)
c.1712C>T (p.Pro571Leu)
n.479-22035G>A
n.563+22285G>A
c.1730C>T (p.Pro577Leu)
4g.47936989G>CCA356825506CNGA1,NIPAL1c.1493C>G (p.Pro498Arg)
c.1505C>G (p.Pro502Arg)
c.1712C>G (p.Pro571Arg)
n.479-22035G>C
n.563+22285G>C
c.1730C>G (p.Pro577Arg)
4g.47936989G>TCA356825508CNGA1,NIPAL1c.1493C>A (p.Pro498His)
c.1505C>A (p.Pro502His)
c.1712C>A (p.Pro571His)
n.479-22035G>T
n.563+22285G>T
c.1730C>A (p.Pro577His)
4g.47936990G>ACA356825512CNGA1,NIPAL1c.1492C>T (p.Pro498Ser)
c.1504C>T (p.Pro502Ser)
c.1711C>T (p.Pro571Ser)
n.479-22034G>A
n.563+22286G>A
c.1729C>T (p.Pro577Ser)
4g.47936990G>CCA356825515CNGA1,NIPAL1c.1492C>G (p.Pro498Ala)
c.1504C>G (p.Pro502Ala)
c.1711C>G (p.Pro571Ala)
n.479-22034G>C
n.563+22286G>C
c.1729C>G (p.Pro577Ala)
4g.47936990G>TCA356825517CNGA1,NIPAL1c.1492C>A (p.Pro498Thr)
c.1504C>A (p.Pro502Thr)
c.1711C>A (p.Pro571Thr)
n.479-22034G>T
n.563+22286G>T
c.1729C>A (p.Pro577Thr)
4g.47936991A>CCA356825518CNGA1,NIPAL1c.1491T>G (p.Ser497Arg)
c.1503T>G (p.Ser501Arg)
c.1710T>G (p.Ser570Arg)
n.479-22033A>C
n.563+22287A>C
c.1728T>G (p.Ser576Arg)
4g.47936991A>GCA439403896CNGA1,NIPAL1c.1491T>C (p.Ser497=)
c.1503T>C (p.Ser501=)
c.1710T>C (p.Ser570=)
n.479-22033A>G
n.563+22287A>G
c.1728T>C (p.Ser576=)
4g.47936991A>TCA356825520CNGA1,NIPAL1c.1491T>A (p.Ser497Arg)
c.1503T>A (p.Ser501Arg)
c.1710T>A (p.Ser570Arg)
n.479-22033A>T
n.563+22287A>T
c.1728T>A (p.Ser576Arg)
4g.47936992C>ACA356825522CNGA1,NIPAL1c.1490G>T (p.Ser497Ile)
c.1502G>T (p.Ser501Ile)
c.1709G>T (p.Ser570Ile)
n.479-22032C>A
n.563+22288C>A
c.1727G>T (p.Ser576Ile)
4g.47936992C>GCA356825526CNGA1,NIPAL1c.1490G>C (p.Ser497Thr)
c.1502G>C (p.Ser501Thr)
c.1709G>C (p.Ser570Thr)
n.479-22032C>G
n.563+22288C>G
c.1727G>C (p.Ser576Thr)
4g.47936992C>TCA356825524CNGA1,NIPAL1c.1490G>A (p.Ser497Asn)
c.1502G>A (p.Ser501Asn)
c.1709G>A (p.Ser570Asn)
n.479-22032C>T
n.563+22288C>T
c.1727G>A (p.Ser576Asn)
4g.47936993delCA2670552348CNGA1,NIPAL1c.1489del (p.Ser497ValfsTer?)
c.1501del (p.Ser501ValfsTer?)
c.1708del (p.Ser570ValfsTer?)
n.479-22031del
n.563+22289del
c.1726del (p.Ser576ValfsTer?)
 gnomAD v4
4g.47936993T>ACA356825528CNGA1,NIPAL1c.1489A>T (p.Ser497Cys)
c.1501A>T (p.Ser501Cys)
c.1708A>T (p.Ser570Cys)
n.479-22031T>A
n.563+22289T>A
c.1726A>T (p.Ser576Cys)
4g.47936993T>CCA356825530CNGA1,NIPAL1c.1489A>G (p.Ser497Gly)
c.1501A>G (p.Ser501Gly)
c.1708A>G (p.Ser570Gly)
n.479-22031T>C
n.563+22289T>C
c.1726A>G (p.Ser576Gly)
4g.47936993T>GCA356825532CNGA1,NIPAL1c.1489A>C (p.Ser497Arg)
c.1501A>C (p.Ser501Arg)
c.1708A>C (p.Ser570Arg)
n.479-22031T>G
n.563+22289T>G
c.1726A>C (p.Ser576Arg)
4g.47936994G>ACA2911067CNGA1,NIPAL1c.1488C>T (p.Tyr496=)
c.1500C>T (p.Tyr500=)
c.1707C>T (p.Tyr569=)
n.479-22030G>A
n.563+22290G>A
c.1725C>T (p.Tyr575=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936994G>CCA356825534CNGA1,NIPAL1c.1488C>G (p.Tyr496Ter)
c.1500C>G (p.Tyr500Ter)
c.1707C>G (p.Tyr569Ter)
n.479-22030G>C
n.563+22290G>C
c.1725C>G (p.Tyr575Ter)
4g.47936994G=CA1455551795CNGA1,NIPAL1c.1488C= (p.Tyr496=)
c.1500C= (p.Tyr500=)
c.1707C= (p.Tyr569=)
n.479-22030G=
n.563+22290G=
c.1725C= (p.Tyr575=)
4g.47936994G>TCA356825535CNGA1,NIPAL1c.1488C>A (p.Tyr496Ter)
c.1500C>A (p.Tyr500Ter)
c.1707C>A (p.Tyr569Ter)
n.479-22030G>T
n.563+22290G>T
c.1725C>A (p.Tyr575Ter)
4g.47936995T>ACA356825538CNGA1,NIPAL1c.1487A>T (p.Tyr496Phe)
c.1499A>T (p.Tyr500Phe)
c.1706A>T (p.Tyr569Phe)
n.479-22029T>A
n.563+22291T>A
c.1724A>T (p.Tyr575Phe)
4g.47936995T>CCA356825540CNGA1,NIPAL1c.1487A>G (p.Tyr496Cys)
c.1499A>G (p.Tyr500Cys)
c.1706A>G (p.Tyr569Cys)
n.479-22029T>C
n.563+22291T>C
c.1724A>G (p.Tyr575Cys)
 dbSNP gnomAD v3 gnomAD v4
4g.47936995T>GCA356825541CNGA1,NIPAL1c.1487A>C (p.Tyr496Ser)
c.1499A>C (p.Tyr500Ser)
c.1706A>C (p.Tyr569Ser)
n.479-22029T>G
n.563+22291T>G
c.1724A>C (p.Tyr575Ser)
4g.47936995T=CA1455551796CNGA1,NIPAL1c.1487A= (p.Tyr496=)
c.1499A= (p.Tyr500=)
c.1706A= (p.Tyr569=)
n.479-22029T=
n.563+22291T=
c.1724A= (p.Tyr575=)
4g.47936996A>CCA356825544CNGA1,NIPAL1c.1486T>G (p.Tyr496Asp)
c.1498T>G (p.Tyr500Asp)
c.1705T>G (p.Tyr569Asp)
n.479-22028A>C
n.563+22292A>C
c.1723T>G (p.Tyr575Asp)
4g.47936996A>GCA356825546CNGA1,NIPAL1c.1486T>C (p.Tyr496His)
c.1498T>C (p.Tyr500His)
c.1705T>C (p.Tyr569His)
n.479-22028A>G
n.563+22292A>G
c.1723T>C (p.Tyr575His)
4g.47936996A>TCA356825547CNGA1,NIPAL1c.1486T>A (p.Tyr496Asn)
c.1498T>A (p.Tyr500Asn)
c.1705T>A (p.Tyr569Asn)
n.479-22028A>T
n.563+22292A>T
c.1723T>A (p.Tyr575Asn)
4g.47936997G>ACA439403905CNGA1,NIPAL1c.1485C>T (p.Val495=)
c.1497C>T (p.Val499=)
c.1704C>T (p.Val568=)
n.479-22027G>A
n.563+22293G>A
c.1722C>T (p.Val574=)
 gnomAD v4
4g.47936997G>CCA439403903CNGA1,NIPAL1c.1485C>G (p.Val495=)
c.1497C>G (p.Val499=)
c.1704C>G (p.Val568=)
n.479-22027G>C
n.563+22293G>C
c.1722C>G (p.Val574=)
4g.47936997G>TCA439403904CNGA1,NIPAL1c.1485C>A (p.Val495=)
c.1497C>A (p.Val499=)
c.1704C>A (p.Val568=)
n.479-22027G>T
n.563+22293G>T
c.1722C>A (p.Val574=)
4g.47936998A=CA1455551797CNGA1,NIPAL1c.1484T= (p.Val495=)
c.1496T= (p.Val499=)
c.1703T= (p.Val568=)
n.479-22026A=
n.563+22294A=
c.1721T= (p.Val574=)
4g.47936998A>CCA356825552CNGA1,NIPAL1c.1484T>G (p.Val495Gly)
c.1496T>G (p.Val499Gly)
c.1703T>G (p.Val568Gly)
n.479-22026A>C
n.563+22294A>C
c.1721T>G (p.Val574Gly)
4g.47936998A>GCA356825549CNGA1,NIPAL1c.1484T>C (p.Val495Ala)
c.1496T>C (p.Val499Ala)
c.1703T>C (p.Val568Ala)
n.479-22026A>G
n.563+22294A>G
c.1721T>C (p.Val574Ala)
 dbSNP gnomAD v4
4g.47936998A>TCA356825550CNGA1,NIPAL1c.1484T>A (p.Val495Asp)
c.1496T>A (p.Val499Asp)
c.1703T>A (p.Val568Asp)
n.479-22026A>T
n.563+22294A>T
c.1721T>A (p.Val574Asp)
4g.47936999C>ACA356825555CNGA1,NIPAL1c.1483G>T (p.Val495Phe)
c.1495G>T (p.Val499Phe)
c.1702G>T (p.Val568Phe)
n.479-22025C>A
n.563+22295C>A
c.1720G>T (p.Val574Phe)
4g.47936999C>GCA356825559CNGA1,NIPAL1c.1483G>C (p.Val495Leu)
c.1495G>C (p.Val499Leu)
c.1702G>C (p.Val568Leu)
n.479-22025C>G
n.563+22295C>G
c.1720G>C (p.Val574Leu)
4g.47936999C>TCA356825557CNGA1,NIPAL1c.1483G>A (p.Val495Ile)
c.1495G>A (p.Val499Ile)
c.1702G>A (p.Val568Ile)
n.479-22025C>T
n.563+22295C>T
c.1720G>A (p.Val574Ile)
4g.47937000T>ACA356825561CNGA1,NIPAL1c.1482A>T (p.Gln494His)
c.1494A>T (p.Gln498His)
c.1701A>T (p.Gln567His)
n.479-22024T>A
n.563+22296T>A
c.1719A>T (p.Gln573His)
4g.47937000T>CCA439403907CNGA1,NIPAL1c.1482A>G (p.Gln494=)
c.1494A>G (p.Gln498=)
c.1701A>G (p.Gln567=)
n.479-22024T>C
n.563+22296T>C
c.1719A>G (p.Gln573=)
4g.47937000T>GCA356825563CNGA1,NIPAL1c.1482A>C (p.Gln494His)
c.1494A>C (p.Gln498His)
c.1701A>C (p.Gln567His)
n.479-22024T>G
n.563+22296T>G
c.1719A>C (p.Gln573His)
4g.47937001delCA2586973852CNGA1,NIPAL1c.1482del (p.Val495SerfsTer?)
c.1494del (p.Val499SerfsTer?)
c.1701del (p.Val568SerfsTer?)
n.479-22023del
n.563+22297del
c.1719del (p.Val574SerfsTer?)
4g.47937001T>ACA356825564CNGA1,NIPAL1c.1481A>T (p.Gln494Leu)
c.1493A>T (p.Gln498Leu)
c.1700A>T (p.Gln567Leu)
n.479-22023T>A
n.563+22297T>A
c.1718A>T (p.Gln573Leu)
4g.47937001T>CCA356825565CNGA1,NIPAL1c.1481A>G (p.Gln494Arg)
c.1493A>G (p.Gln498Arg)
c.1700A>G (p.Gln567Arg)
n.479-22023T>C
n.563+22297T>C
c.1718A>G (p.Gln573Arg)
 gnomAD v4
4g.47937001T>GCA356825567CNGA1,NIPAL1c.1481A>C (p.Gln494Pro)
c.1493A>C (p.Gln498Pro)
c.1700A>C (p.Gln567Pro)
n.479-22023T>G
n.563+22297T>G
c.1718A>C (p.Gln573Pro)
4g.47937002G>ACA356825570CNGA1,NIPAL1c.1480C>T (p.Gln494Ter)
c.1492C>T (p.Gln498Ter)
c.1699C>T (p.Gln567Ter)
n.479-22022G>A
n.563+22298G>A
c.1717C>T (p.Gln573Ter)
4g.47937002G>CCA356825571CNGA1,NIPAL1c.1480C>G (p.Gln494Glu)
c.1492C>G (p.Gln498Glu)
c.1699C>G (p.Gln567Glu)
n.479-22022G>C
n.563+22298G>C
c.1717C>G (p.Gln573Glu)
 gnomAD v4
4g.47937002G>TCA356825573CNGA1,NIPAL1c.1480C>A (p.Gln494Lys)
c.1492C>A (p.Gln498Lys)
c.1699C>A (p.Gln567Lys)
n.479-22022G>T
n.563+22298G>T
c.1717C>A (p.Gln573Lys)
4g.47937003G>ACA2911068CNGA1,NIPAL1c.1479C>T (p.Pro493=)
c.1491C>T (p.Pro497=)
c.1698C>T (p.Pro566=)
n.479-22021G>A
n.563+22299G>A
c.1716C>T (p.Pro572=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937003G>CCA439403909CNGA1,NIPAL1c.1479C>G (p.Pro493=)
c.1491C>G (p.Pro497=)
c.1698C>G (p.Pro566=)
n.479-22021G>C
n.563+22299G>C
c.1716C>G (p.Pro572=)
4g.47937003G=CA1455551798CNGA1,NIPAL1c.1479C= (p.Pro493=)
c.1491C= (p.Pro497=)
c.1698C= (p.Pro566=)
n.479-22021G=
n.563+22299G=
c.1716C= (p.Pro572=)
4g.47937003G>TCA439403910CNGA1,NIPAL1c.1479C>A (p.Pro493=)
c.1491C>A (p.Pro497=)
c.1698C>A (p.Pro566=)
n.479-22021G>T
n.563+22299G>T
c.1716C>A (p.Pro572=)
4g.47937004G>ACA96688544CNGA1,NIPAL1c.1478C>T (p.Pro493Leu)
c.1490C>T (p.Pro497Leu)
c.1697C>T (p.Pro566Leu)
n.479-22020G>A
n.563+22300G>A
c.1715C>T (p.Pro572Leu)
 dbSNP gnomAD v4
4g.47937004G>CCA356825578CNGA1,NIPAL1c.1478C>G (p.Pro493Arg)
c.1490C>G (p.Pro497Arg)
c.1697C>G (p.Pro566Arg)
n.479-22020G>C
n.563+22300G>C
c.1715C>G (p.Pro572Arg)
4g.47937004G=CA1455551799CNGA1,NIPAL1c.1478C= (p.Pro493=)
c.1490C= (p.Pro497=)
c.1697C= (p.Pro566=)
n.479-22020G=
n.563+22300G=
c.1715C= (p.Pro572=)
4g.47937004G>TCA356825580CNGA1,NIPAL1c.1478C>A (p.Pro493His)
c.1490C>A (p.Pro497His)
c.1697C>A (p.Pro566His)
n.479-22020G>T
n.563+22300G>T
c.1715C>A (p.Pro572His)
 dbSNP
4g.47937005G>ACA356825586CNGA1,NIPAL1c.1477C>T (p.Pro493Ser)
c.1489C>T (p.Pro497Ser)
c.1696C>T (p.Pro566Ser)
n.479-22019G>A
n.563+22301G>A
c.1714C>T (p.Pro572Ser)
 gnomAD v4
4g.47937005G>CCA356825584CNGA1,NIPAL1c.1477C>G (p.Pro493Ala)
c.1489C>G (p.Pro497Ala)
c.1696C>G (p.Pro566Ala)
n.479-22019G>C
n.563+22301G>C
c.1714C>G (p.Pro572Ala)
4g.47937005G>TCA356825583CNGA1,NIPAL1c.1477C>A (p.Pro493Thr)
c.1489C>A (p.Pro497Thr)
c.1696C>A (p.Pro566Thr)
n.479-22019G>T
n.563+22301G>T
c.1714C>A (p.Pro572Thr)
 dbSNP
4g.47937005_47937021delCA2670552349CNGA1,NIPAL1c.1461_1477del (p.Leu487PhefsTer?)
c.1473_1489del (p.Leu491PhefsTer?)
c.1680_1696del (p.Leu560PhefsTer?)
n.479-22019_479-22003del
n.563+22301_563+22317del
c.1698_1714del (p.Leu566PhefsTer?)
 gnomAD v4
4g.47937006T>ACA356825587CNGA1,NIPAL1c.1476A>T (p.Gln492His)
c.1488A>T (p.Gln496His)
c.1695A>T (p.Gln565His)
n.479-22018T>A
n.563+22302T>A
c.1713A>T (p.Gln571His)
4g.47937006T>CCA2911069CNGA1,NIPAL1c.1476A>G (p.Gln492=)
c.1488A>G (p.Gln496=)
c.1695A>G (p.Gln565=)
n.479-22018T>C
n.563+22302T>C
c.1713A>G (p.Gln571=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937006T>GCA356825589CNGA1,NIPAL1c.1476A>C (p.Gln492His)
c.1488A>C (p.Gln496His)
c.1695A>C (p.Gln565His)
n.479-22018T>G
n.563+22302T>G
c.1713A>C (p.Gln571His)
4g.47937006T=CA1455551800CNGA1,NIPAL1c.1476A= (p.Gln492=)
c.1488A= (p.Gln496=)
c.1695A= (p.Gln565=)
n.479-22018T=
n.563+22302T=
c.1713A= (p.Gln571=)
4g.47937007T>ACA356825590CNGA1,NIPAL1c.1475A>T (p.Gln492Leu)
c.1487A>T (p.Gln496Leu)
c.1694A>T (p.Gln565Leu)
n.479-22017T>A
n.563+22303T>A
c.1712A>T (p.Gln571Leu)
4g.47937007T>CCA356825592CNGA1,NIPAL1c.1475A>G (p.Gln492Arg)
c.1487A>G (p.Gln496Arg)
c.1694A>G (p.Gln565Arg)
n.479-22017T>C
n.563+22303T>C
c.1712A>G (p.Gln571Arg)
 gnomAD v4
4g.47937007T>GCA356825594CNGA1,NIPAL1c.1475A>C (p.Gln492Pro)
c.1487A>C (p.Gln496Pro)
c.1694A>C (p.Gln565Pro)
n.479-22017T>G
n.563+22303T>G
c.1712A>C (p.Gln571Pro)
 ClinVar dbSNP gnomAD v4
4g.47937007T=CA1455551801CNGA1,NIPAL1c.1475A= (p.Gln492=)
c.1487A= (p.Gln496=)
c.1694A= (p.Gln565=)
n.479-22017T=
n.563+22303T=
c.1712A= (p.Gln571=)
4g.47937008G>ACA356825596CNGA1,NIPAL1c.1474C>T (p.Gln492Ter)
c.1486C>T (p.Gln496Ter)
c.1693C>T (p.Gln565Ter)
n.479-22016G>A
n.563+22304G>A
c.1711C>T (p.Gln571Ter)
 dbSNP
4g.47937008G>CCA356825598CNGA1,NIPAL1c.1474C>G (p.Gln492Glu)
c.1486C>G (p.Gln496Glu)
c.1693C>G (p.Gln565Glu)
n.479-22016G>C
n.563+22304G>C
c.1711C>G (p.Gln571Glu)
4g.47937008G=CA1455551802CNGA1,NIPAL1c.1474C= (p.Gln492=)
c.1486C= (p.Gln496=)
c.1693C= (p.Gln565=)
n.479-22016G=
n.563+22304G=
c.1711C= (p.Gln571=)
4g.47937008G>TCA356825600CNGA1,NIPAL1c.1474C>A (p.Gln492Lys)
c.1486C>A (p.Gln496Lys)
c.1693C>A (p.Gln565Lys)
n.479-22016G>T
n.563+22304G>T
c.1711C>A (p.Gln571Lys)
4g.47937009C>ACA356825601CNGA1,NIPAL1c.1473G>T (p.Leu491Phe)
c.1485G>T (p.Leu495Phe)
c.1692G>T (p.Leu564Phe)
n.479-22015C>A
n.563+22305C>A
c.1710G>T (p.Leu570Phe)
4g.47937009C=CA1455551803CNGA1,NIPAL1c.1473G= (p.Leu491=)
c.1485G= (p.Leu495=)
c.1692G= (p.Leu564=)
n.479-22015C=
n.563+22305C=
c.1710G= (p.Leu570=)
4g.47937009C>GCA356825602CNGA1,NIPAL1c.1473G>C (p.Leu491Phe)
c.1485G>C (p.Leu495Phe)
c.1692G>C (p.Leu564Phe)
n.479-22015C>G
n.563+22305C>G
c.1710G>C (p.Leu570Phe)
 ClinVar
4g.47937009C>TCA439403921CNGA1,NIPAL1c.1473G>A (p.Leu491=)
c.1485G>A (p.Leu495=)
c.1692G>A (p.Leu564=)
n.479-22015C>T
n.563+22305C>T
c.1710G>A (p.Leu570=)
 dbSNP gnomAD v2
4g.47937010A>CCA356825607CNGA1,NIPAL1c.1472T>G (p.Leu491Trp)
c.1484T>G (p.Leu495Trp)
c.1691T>G (p.Leu564Trp)
n.479-22014A>C
n.563+22306A>C
c.1709T>G (p.Leu570Trp)
4g.47937010A>GCA356825609CNGA1,NIPAL1c.1472T>C (p.Leu491Ser)
c.1484T>C (p.Leu495Ser)
c.1691T>C (p.Leu564Ser)
n.479-22014A>G
n.563+22306A>G
c.1709T>C (p.Leu570Ser)
4g.47937010A>TCA356825606CNGA1,NIPAL1c.1472T>A (p.Leu491Ter)
c.1484T>A (p.Leu495Ter)
c.1691T>A (p.Leu564Ter)
n.479-22014A>T
n.563+22306A>T
c.1709T>A (p.Leu570Ter)
4g.47937010_47937013delCA2586973853CNGA1,NIPAL1c.1469_1472del (p.Lys490SerfsTer?)
c.1481_1484del (p.Lys494SerfsTer?)
c.1688_1691del (p.Lys563SerfsTer?)
n.479-22014_479-22011del
n.563+22306_563+22309del
c.1706_1709del (p.Lys569SerfsTer?)
4g.47937011A=CA1455551804CNGA1,NIPAL1c.1471T= (p.Leu491=)
c.1483T= (p.Leu495=)
c.1690T= (p.Leu564=)
n.479-22013A=
n.563+22307A=
c.1708T= (p.Leu570=)
4g.47937011A>CCA356825612CNGA1,NIPAL1c.1471T>G (p.Leu491Val)
c.1483T>G (p.Leu495Val)
c.1690T>G (p.Leu564Val)
n.479-22013A>C
n.563+22307A>C
c.1708T>G (p.Leu570Val)
4g.47937011A>GCA2911070CNGA1,NIPAL1c.1471T>C (p.Leu491=)
c.1483T>C (p.Leu495=)
c.1690T>C (p.Leu564=)
n.479-22013A>G
n.563+22307A>G
c.1708T>C (p.Leu570=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937011A>TCA356825614CNGA1,NIPAL1c.1471T>A (p.Leu491Met)
c.1483T>A (p.Leu495Met)
c.1690T>A (p.Leu564Met)
n.479-22013A>T
n.563+22307A>T
c.1708T>A (p.Leu570Met)

Number of alleles fetched