Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.47937086G>ACA356825860CNGA1,NIPAL1c.1396C>T (p.His466Tyr)
c.1408C>T (p.His470Tyr)
c.1615C>T (p.His539Tyr)
n.479-21938G>A
n.563+22382G>A
c.1633C>T (p.His545Tyr)
 dbSNP gnomAD v2 gnomAD v4
4g.47937086G>CCA356825861CNGA1,NIPAL1c.1396C>G (p.His466Asp)
c.1408C>G (p.His470Asp)
c.1615C>G (p.His539Asp)
n.479-21938G>C
n.563+22382G>C
c.1633C>G (p.His545Asp)
4g.47937086G=CA1455551833CNGA1,NIPAL1c.1396C= (p.His466=)
c.1408C= (p.His470=)
c.1615C= (p.His539=)
n.479-21938G=
n.563+22382G=
c.1633C= (p.His545=)
4g.47937086G>TCA356825862CNGA1,NIPAL1c.1396C>A (p.His466Asn)
c.1408C>A (p.His470Asn)
c.1615C>A (p.His539Asn)
n.479-21938G>T
n.563+22382G>T
c.1633C>A (p.His545Asn)
 ClinVar COSMIC
4g.47937087A>CCA439404149CNGA1,NIPAL1c.1395T>G (p.Val465=)
c.1407T>G (p.Val469=)
c.1614T>G (p.Val538=)
n.479-21937A>C
n.563+22383A>C
c.1632T>G (p.Val544=)
4g.47937087A>GCA439404150CNGA1,NIPAL1c.1395T>C (p.Val465=)
c.1407T>C (p.Val469=)
c.1614T>C (p.Val538=)
n.479-21937A>G
n.563+22383A>G
c.1632T>C (p.Val544=)
4g.47937087A>TCA439404151CNGA1,NIPAL1c.1395T>A (p.Val465=)
c.1407T>A (p.Val469=)
c.1614T>A (p.Val538=)
n.479-21937A>T
n.563+22383A>T
c.1632T>A (p.Val544=)
4g.47937088A>CCA356825863CNGA1,NIPAL1c.1394T>G (p.Val465Gly)
c.1406T>G (p.Val469Gly)
c.1613T>G (p.Val538Gly)
n.479-21936A>C
n.563+22384A>C
c.1631T>G (p.Val544Gly)
4g.47937088A>GCA356825864CNGA1,NIPAL1c.1394T>C (p.Val465Ala)
c.1406T>C (p.Val469Ala)
c.1613T>C (p.Val538Ala)
n.479-21936A>G
n.563+22384A>G
c.1631T>C (p.Val544Ala)
 COSMIC COSMIC
4g.47937088A>TCA356825865CNGA1,NIPAL1c.1394T>A (p.Val465Asp)
c.1406T>A (p.Val469Asp)
c.1613T>A (p.Val538Asp)
n.479-21936A>T
n.563+22384A>T
c.1631T>A (p.Val544Asp)
4g.47937089C>ACA96688671CNGA1,NIPAL1c.1393G>T (p.Val465Phe)
c.1405G>T (p.Val469Phe)
c.1612G>T (p.Val538Phe)
n.479-21935C>A
n.563+22385C>A
c.1630G>T (p.Val544Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47937089C=CA1455551834CNGA1,NIPAL1c.1393G= (p.Val465=)
c.1405G= (p.Val469=)
c.1612G= (p.Val538=)
n.479-21935C=
n.563+22385C=
c.1630G= (p.Val544=)
4g.47937089C>GCA356825867CNGA1,NIPAL1c.1393G>C (p.Val465Leu)
c.1405G>C (p.Val469Leu)
c.1612G>C (p.Val538Leu)
n.479-21935C>G
n.563+22385C>G
c.1630G>C (p.Val544Leu)
4g.47937089C>TCA356825866CNGA1,NIPAL1c.1393G>A (p.Val465Ile)
c.1405G>A (p.Val469Ile)
c.1612G>A (p.Val538Ile)
n.479-21935C>T
n.563+22385C>T
c.1630G>A (p.Val544Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47937090G>ACA2911086CNGA1,NIPAL1c.1392C>T (p.Asn464=)
c.1404C>T (p.Asn468=)
c.1611C>T (p.Asn537=)
n.479-21934G>A
n.563+22386G>A
c.1629C>T (p.Asn543=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937090G>CCA356825868CNGA1,NIPAL1c.1392C>G (p.Asn464Lys)
c.1404C>G (p.Asn468Lys)
c.1611C>G (p.Asn537Lys)
n.479-21934G>C
n.563+22386G>C
c.1629C>G (p.Asn543Lys)
 gnomAD v4
4g.47937090G=CA1455551835CNGA1,NIPAL1c.1392C= (p.Asn464=)
c.1404C= (p.Asn468=)
c.1611C= (p.Asn537=)
n.479-21934G=
n.563+22386G=
c.1629C= (p.Asn543=)
4g.47937090G>TCA356825869CNGA1,NIPAL1c.1392C>A (p.Asn464Lys)
c.1404C>A (p.Asn468Lys)
c.1611C>A (p.Asn537Lys)
n.479-21934G>T
n.563+22386G>T
c.1629C>A (p.Asn543Lys)
4g.47937091T>ACA356825870CNGA1,NIPAL1c.1391A>T (p.Asn464Ile)
c.1403A>T (p.Asn468Ile)
c.1610A>T (p.Asn537Ile)
n.479-21933T>A
n.563+22387T>A
c.1628A>T (p.Asn543Ile)
4g.47937091T>CCA2911087CNGA1,NIPAL1c.1391A>G (p.Asn464Ser)
c.1403A>G (p.Asn468Ser)
c.1610A>G (p.Asn537Ser)
n.479-21933T>C
n.563+22387T>C
c.1628A>G (p.Asn543Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937091T>GCA356825871CNGA1,NIPAL1c.1391A>C (p.Asn464Thr)
c.1403A>C (p.Asn468Thr)
c.1610A>C (p.Asn537Thr)
n.479-21933T>G
n.563+22387T>G
c.1628A>C (p.Asn543Thr)
4g.47937091T=CA1455551836CNGA1,NIPAL1c.1391A= (p.Asn464=)
c.1403A= (p.Asn468=)
c.1610A= (p.Asn537=)
n.479-21933T=
n.563+22387T=
c.1628A= (p.Asn543=)
4g.47937092T>ACA356825872CNGA1,NIPAL1c.1390A>T (p.Asn464Tyr)
c.1402A>T (p.Asn468Tyr)
c.1609A>T (p.Asn537Tyr)
n.479-21932T>A
n.563+22388T>A
c.1627A>T (p.Asn543Tyr)
4g.47937092T>CCA356825873CNGA1,NIPAL1c.1390A>G (p.Asn464Asp)
c.1402A>G (p.Asn468Asp)
c.1609A>G (p.Asn537Asp)
n.479-21932T>C
n.563+22388T>C
c.1627A>G (p.Asn543Asp)
4g.47937092T>GCA356825874CNGA1,NIPAL1c.1390A>C (p.Asn464His)
c.1402A>C (p.Asn468His)
c.1609A>C (p.Asn537His)
n.479-21932T>G
n.563+22388T>G
c.1627A>C (p.Asn543His)
 gnomAD v4
4g.47937093G>ACA439404157CNGA1,NIPAL1c.1389C>T (p.Ile463=)
c.1401C>T (p.Ile467=)
c.1608C>T (p.Ile536=)
n.479-21931G>A
n.563+22389G>A
c.1626C>T (p.Ile542=)
 COSMIC
4g.47937093G>CCA356825875CNGA1,NIPAL1c.1389C>G (p.Ile463Met)
c.1401C>G (p.Ile467Met)
c.1608C>G (p.Ile536Met)
n.479-21931G>C
n.563+22389G>C
c.1626C>G (p.Ile542Met)
4g.47937093G>TCA439404158CNGA1,NIPAL1c.1389C>A (p.Ile463=)
c.1401C>A (p.Ile467=)
c.1608C>A (p.Ile536=)
n.479-21931G>T
n.563+22389G>T
c.1626C>A (p.Ile542=)
4g.47937094A>CCA356825876CNGA1,NIPAL1c.1388T>G (p.Ile463Ser)
c.1400T>G (p.Ile467Ser)
c.1607T>G (p.Ile536Ser)
n.479-21930A>C
n.563+22390A>C
c.1625T>G (p.Ile542Ser)
4g.47937094A>GCA356825877CNGA1,NIPAL1c.1388T>C (p.Ile463Thr)
c.1400T>C (p.Ile467Thr)
c.1607T>C (p.Ile536Thr)
n.479-21930A>G
n.563+22390A>G
c.1625T>C (p.Ile542Thr)
4g.47937094A>TCA356825878CNGA1,NIPAL1c.1388T>A (p.Ile463Asn)
c.1400T>A (p.Ile467Asn)
c.1607T>A (p.Ile536Asn)
n.479-21930A>T
n.563+22390A>T
c.1625T>A (p.Ile542Asn)
 COSMIC
4g.47937095T>ACA356825879CNGA1,NIPAL1c.1387A>T (p.Ile463Phe)
c.1399A>T (p.Ile467Phe)
c.1606A>T (p.Ile536Phe)
n.479-21929T>A
n.563+22391T>A
c.1624A>T (p.Ile542Phe)
4g.47937095T>CCA356825881CNGA1,NIPAL1c.1387A>G (p.Ile463Val)
c.1399A>G (p.Ile467Val)
c.1606A>G (p.Ile536Val)
n.479-21929T>C
n.563+22391T>C
c.1624A>G (p.Ile542Val)
 gnomAD v4
4g.47937095T>GCA356825880CNGA1,NIPAL1c.1387A>C (p.Ile463Leu)
c.1399A>C (p.Ile467Leu)
c.1606A>C (p.Ile536Leu)
n.479-21929T>G
n.563+22391T>G
c.1624A>C (p.Ile542Leu)
4g.47937096G>ACA439404162CNGA1,NIPAL1c.1386C>T (p.Ala462=)
c.1398C>T (p.Ala466=)
c.1605C>T (p.Ala535=)
n.479-21928G>A
n.563+22392G>A
c.1623C>T (p.Ala541=)
4g.47937096G>CCA439404164CNGA1,NIPAL1c.1386C>G (p.Ala462=)
c.1398C>G (p.Ala466=)
c.1605C>G (p.Ala535=)
n.479-21928G>C
n.563+22392G>C
c.1623C>G (p.Ala541=)
4g.47937096G>TCA439404165CNGA1,NIPAL1c.1386C>A (p.Ala462=)
c.1398C>A (p.Ala466=)
c.1605C>A (p.Ala535=)
n.479-21928G>T
n.563+22392G>T
c.1623C>A (p.Ala541=)
4g.47937097G>ACA2911088CNGA1,NIPAL1c.1385C>T (p.Ala462Val)
c.1397C>T (p.Ala466Val)
c.1604C>T (p.Ala535Val)
n.479-21927G>A
n.563+22393G>A
c.1622C>T (p.Ala541Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937097G>CCA356825882CNGA1,NIPAL1c.1385C>G (p.Ala462Gly)
c.1397C>G (p.Ala466Gly)
c.1604C>G (p.Ala535Gly)
n.479-21927G>C
n.563+22393G>C
c.1622C>G (p.Ala541Gly)
4g.47937097G=CA1455551837CNGA1,NIPAL1c.1385C= (p.Ala462=)
c.1397C= (p.Ala466=)
c.1604C= (p.Ala535=)
n.479-21927G=
n.563+22393G=
c.1622C= (p.Ala541=)
4g.47937097G>TCA356825883CNGA1,NIPAL1c.1385C>A (p.Ala462Asp)
c.1397C>A (p.Ala466Asp)
c.1604C>A (p.Ala535Asp)
n.479-21927G>T
n.563+22393G>T
c.1622C>A (p.Ala541Asp)
4g.47937098C>ACA356825884CNGA1,NIPAL1c.1384G>T (p.Ala462Ser)
c.1396G>T (p.Ala466Ser)
c.1603G>T (p.Ala535Ser)
n.479-21926C>A
n.563+22394C>A
c.1621G>T (p.Ala541Ser)
4g.47937098C=CA1455551838CNGA1,NIPAL1c.1384G= (p.Ala462=)
c.1396G= (p.Ala466=)
c.1603G= (p.Ala535=)
n.479-21926C=
n.563+22394C=
c.1621G= (p.Ala541=)
4g.47937098C>GCA356825885CNGA1,NIPAL1c.1384G>C (p.Ala462Pro)
c.1396G>C (p.Ala466Pro)
c.1603G>C (p.Ala535Pro)
n.479-21926C>G
n.563+22394C>G
c.1621G>C (p.Ala541Pro)
4g.47937098C>TCA356825886CNGA1,NIPAL1c.1384G>A (p.Ala462Thr)
c.1396G>A (p.Ala466Thr)
c.1603G>A (p.Ala535Thr)
n.479-21926C>T
n.563+22394C>T
c.1621G>A (p.Ala541Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.47937099A>CCA356825887CNGA1,NIPAL1c.1383T>G (p.Ile461Met)
c.1395T>G (p.Ile465Met)
c.1602T>G (p.Ile534Met)
n.479-21925A>C
n.563+22395A>C
c.1620T>G (p.Ile540Met)
 gnomAD v4
4g.47937099A>GCA439404170CNGA1,NIPAL1c.1383T>C (p.Ile461=)
c.1395T>C (p.Ile465=)
c.1602T>C (p.Ile534=)
n.479-21925A>G
n.563+22395A>G
c.1620T>C (p.Ile540=)
4g.47937099A>TCA439404168CNGA1,NIPAL1c.1383T>A (p.Ile461=)
c.1395T>A (p.Ile465=)
c.1602T>A (p.Ile534=)
n.479-21925A>T
n.563+22395A>T
c.1620T>A (p.Ile540=)
4g.47937100A=CA1455551839CNGA1,NIPAL1c.1382T= (p.Ile461=)
c.1394T= (p.Ile465=)
c.1601T= (p.Ile534=)
n.479-21924A=
n.563+22396A=
c.1619T= (p.Ile540=)
4g.47937100A>CCA356825888CNGA1,NIPAL1c.1382T>G (p.Ile461Ser)
c.1394T>G (p.Ile465Ser)
c.1601T>G (p.Ile534Ser)
n.479-21924A>C
n.563+22396A>C
c.1619T>G (p.Ile540Ser)
4g.47937100A>GCA356825889CNGA1,NIPAL1c.1382T>C (p.Ile461Thr)
c.1394T>C (p.Ile465Thr)
c.1601T>C (p.Ile534Thr)
n.479-21924A>G
n.563+22396A>G
c.1619T>C (p.Ile540Thr)
4g.47937100A>TCA356825890CNGA1,NIPAL1c.1382T>A (p.Ile461Asn)
c.1394T>A (p.Ile465Asn)
c.1601T>A (p.Ile534Asn)
n.479-21924A>T
n.563+22396A>T
c.1619T>A (p.Ile540Asn)
 dbSNP
4g.47937101T>ACA356825893CNGA1,NIPAL1c.1381A>T (p.Ile461Phe)
c.1393A>T (p.Ile465Phe)
c.1600A>T (p.Ile534Phe)
n.479-21923T>A
n.563+22397T>A
c.1618A>T (p.Ile540Phe)
4g.47937101T>CCA356825891CNGA1,NIPAL1c.1381A>G (p.Ile461Val)
c.1393A>G (p.Ile465Val)
c.1600A>G (p.Ile534Val)
n.479-21923T>C
n.563+22397T>C
c.1618A>G (p.Ile540Val)
4g.47937101T>GCA356825892CNGA1,NIPAL1c.1381A>C (p.Ile461Leu)
c.1393A>C (p.Ile465Leu)
c.1600A>C (p.Ile534Leu)
n.479-21923T>G
n.563+22397T>G
c.1618A>C (p.Ile540Leu)
4g.47937103dupCA96688693CNGA1,NIPAL1c.1381dup (p.Ile461AsnfsTer18)
c.1393dup (p.Ile465AsnfsTer18)
c.1600dup (p.Ile534AsnfsTer18)
n.479-21921dup
n.563+22399dup
c.1618dup (p.Ile540AsnfsTer18)
 dbSNP
4g.47937102T>ACA356825895CNGA1,NIPAL1c.1380A>T (p.Glu460Asp)
c.1392A>T (p.Glu464Asp)
c.1599A>T (p.Glu533Asp)
n.479-21922T>A
n.563+22398T>A
c.1617A>T (p.Glu539Asp)
4g.47937102T>CCA439404172CNGA1,NIPAL1c.1380A>G (p.Glu460=)
c.1392A>G (p.Glu464=)
c.1599A>G (p.Glu533=)
n.479-21922T>C
n.563+22398T>C
c.1617A>G (p.Glu539=)
 COSMIC
4g.47937102T>GCA356825894CNGA1,NIPAL1c.1380A>C (p.Glu460Asp)
c.1392A>C (p.Glu464Asp)
c.1599A>C (p.Glu533Asp)
n.479-21922T>G
n.563+22398T>G
c.1617A>C (p.Glu539Asp)
4g.47937103T>ACA356825898CNGA1,NIPAL1c.1379A>T (p.Glu460Val)
c.1391A>T (p.Glu464Val)
c.1598A>T (p.Glu533Val)
n.479-21921T>A
n.563+22399T>A
c.1616A>T (p.Glu539Val)
4g.47937103T>CCA356825896CNGA1,NIPAL1c.1379A>G (p.Glu460Gly)
c.1391A>G (p.Glu464Gly)
c.1598A>G (p.Glu533Gly)
n.479-21921T>C
n.563+22399T>C
c.1616A>G (p.Glu539Gly)
4g.47937103T>GCA356825897CNGA1,NIPAL1c.1379A>C (p.Glu460Ala)
c.1391A>C (p.Glu464Ala)
c.1598A>C (p.Glu533Ala)
n.479-21921T>G
n.563+22399T>G
c.1616A>C (p.Glu539Ala)
4g.47937104C>ACA356825899CNGA1,NIPAL1c.1378G>T (p.Glu460Ter)
c.1390G>T (p.Glu464Ter)
c.1597G>T (p.Glu533Ter)
n.479-21920C>A
n.563+22400C>A
c.1615G>T (p.Glu539Ter)
4g.47937104C>GCA356825900CNGA1,NIPAL1c.1378G>C (p.Glu460Gln)
c.1390G>C (p.Glu464Gln)
c.1597G>C (p.Glu533Gln)
n.479-21920C>G
n.563+22400C>G
c.1615G>C (p.Glu539Gln)
4g.47937104C>TCA356825901CNGA1,NIPAL1c.1378G>A (p.Glu460Lys)
c.1390G>A (p.Glu464Lys)
c.1597G>A (p.Glu533Lys)
n.479-21920C>T
n.563+22400C>T
c.1615G>A (p.Glu539Lys)
4g.47937105T>ACA439404174CNGA1,NIPAL1c.1377A>T (p.Ala459=)
c.1389A>T (p.Ala463=)
c.1596A>T (p.Ala532=)
n.479-21919T>A
n.563+22401T>A
c.1614A>T (p.Ala538=)
4g.47937105T>CCA439404175CNGA1,NIPAL1c.1377A>G (p.Ala459=)
c.1389A>G (p.Ala463=)
c.1596A>G (p.Ala532=)
n.479-21919T>C
n.563+22401T>C
c.1614A>G (p.Ala538=)
4g.47937105T>GCA439404176CNGA1,NIPAL1c.1377A>C (p.Ala459=)
c.1389A>C (p.Ala463=)
c.1596A>C (p.Ala532=)
n.479-21919T>G
n.563+22401T>G
c.1614A>C (p.Ala538=)
4g.47937106G>ACA356825902CNGA1,NIPAL1c.1376C>T (p.Ala459Val)
c.1388C>T (p.Ala463Val)
c.1595C>T (p.Ala532Val)
n.479-21918G>A
n.563+22402G>A
c.1613C>T (p.Ala538Val)
4g.47937106G>CCA356825903CNGA1,NIPAL1c.1376C>G (p.Ala459Gly)
c.1388C>G (p.Ala463Gly)
c.1595C>G (p.Ala532Gly)
n.479-21918G>C
n.563+22402G>C
c.1613C>G (p.Ala538Gly)
 COSMIC
4g.47937106G>TCA356825904CNGA1,NIPAL1c.1376C>A (p.Ala459Glu)
c.1388C>A (p.Ala463Glu)
c.1595C>A (p.Ala532Glu)
n.479-21918G>T
n.563+22402G>T
c.1613C>A (p.Ala538Glu)
4g.47937107C>ACA356825905CNGA1,NIPAL1c.1375G>T (p.Ala459Ser)
c.1387G>T (p.Ala463Ser)
c.1594G>T (p.Ala532Ser)
n.479-21917C>A
n.563+22403C>A
c.1612G>T (p.Ala538Ser)
 dbSNP gnomAD v4
4g.47937107C=CA1455551840CNGA1,NIPAL1c.1375G= (p.Ala459=)
c.1387G= (p.Ala463=)
c.1594G= (p.Ala532=)
n.479-21917C=
n.563+22403C=
c.1612G= (p.Ala538=)
4g.47937107C>GCA356825906CNGA1,NIPAL1c.1375G>C (p.Ala459Pro)
c.1387G>C (p.Ala463Pro)
c.1594G>C (p.Ala532Pro)
n.479-21917C>G
n.563+22403C>G
c.1612G>C (p.Ala538Pro)
4g.47937107C>TCA96688705CNGA1,NIPAL1c.1375G>A (p.Ala459Thr)
c.1387G>A (p.Ala463Thr)
c.1594G>A (p.Ala532Thr)
n.479-21917C>T
n.563+22403C>T
c.1612G>A (p.Ala538Thr)
 dbSNP COSMIC
4g.47937108T>ACA356825908CNGA1,NIPAL1c.1374A>T (p.Arg458Ser)
c.1386A>T (p.Arg462Ser)
c.1593A>T (p.Arg531Ser)
n.479-21916T>A
n.563+22404T>A
c.1611A>T (p.Arg537Ser)
4g.47937108T>CCA2911089CNGA1,NIPAL1c.1374A>G (p.Arg458=)
c.1386A>G (p.Arg462=)
c.1593A>G (p.Arg531=)
n.479-21916T>C
n.563+22404T>C
c.1611A>G (p.Arg537=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937108T>GCA356825907CNGA1,NIPAL1c.1374A>C (p.Arg458Ser)
c.1386A>C (p.Arg462Ser)
c.1593A>C (p.Arg531Ser)
n.479-21916T>G
n.563+22404T>G
c.1611A>C (p.Arg537Ser)
4g.47937108T=CA1455551841CNGA1,NIPAL1c.1374A= (p.Arg458=)
c.1386A= (p.Arg462=)
c.1593A= (p.Arg531=)
n.479-21916T=
n.563+22404T=
c.1611A= (p.Arg537=)
4g.47937109C>ACA356825909CNGA1,NIPAL1c.1373G>T (p.Arg458Ile)
c.1385G>T (p.Arg462Ile)
c.1592G>T (p.Arg531Ile)
n.479-21915C>A
n.563+22405C>A
c.1610G>T (p.Arg537Ile)
4g.47937109C>GCA356825910CNGA1,NIPAL1c.1373G>C (p.Arg458Thr)
c.1385G>C (p.Arg462Thr)
c.1592G>C (p.Arg531Thr)
n.479-21915C>G
n.563+22405C>G
c.1610G>C (p.Arg537Thr)
 gnomAD v4
4g.47937109C>TCA356825911CNGA1,NIPAL1c.1373G>A (p.Arg458Lys)
c.1385G>A (p.Arg462Lys)
c.1592G>A (p.Arg531Lys)
n.479-21915C>T
n.563+22405C>T
c.1610G>A (p.Arg537Lys)
4g.47937110T>ACA356825912CNGA1,NIPAL1c.1372A>T (p.Arg458Ter)
c.1384A>T (p.Arg462Ter)
c.1591A>T (p.Arg531Ter)
n.479-21914T>A
n.563+22406T>A
c.1609A>T (p.Arg537Ter)
 ClinVar
4g.47937110T>CCA356825913CNGA1,NIPAL1c.1372A>G (p.Arg458Gly)
c.1384A>G (p.Arg462Gly)
c.1591A>G (p.Arg531Gly)
n.479-21914T>C
n.563+22406T>C
c.1609A>G (p.Arg537Gly)
4g.47937110T>GCA439404180CNGA1,NIPAL1c.1372A>C (p.Arg458=)
c.1384A>C (p.Arg462=)
c.1591A>C (p.Arg531=)
n.479-21914T>G
n.563+22406T>G
c.1609A>C (p.Arg537=)
4g.47937111T>ACA439404181CNGA1,NIPAL1c.1371A>T (p.Leu457=)
c.1383A>T (p.Leu461=)
c.1590A>T (p.Leu530=)
n.479-21913T>A
n.563+22407T>A
c.1608A>T (p.Leu536=)
4g.47937111T>CCA439404183CNGA1,NIPAL1c.1371A>G (p.Leu457=)
c.1383A>G (p.Leu461=)
c.1590A>G (p.Leu530=)
n.479-21913T>C
n.563+22407T>C
c.1608A>G (p.Leu536=)
4g.47937111T>GCA439404182CNGA1,NIPAL1c.1371A>C (p.Leu457=)
c.1383A>C (p.Leu461=)
c.1590A>C (p.Leu530=)
n.479-21913T>G
n.563+22407T>G
c.1608A>C (p.Leu536=)
4g.47937112A>CCA356825914CNGA1,NIPAL1c.1370T>G (p.Leu457Arg)
c.1382T>G (p.Leu461Arg)
c.1589T>G (p.Leu530Arg)
n.479-21912A>C
n.563+22408A>C
c.1607T>G (p.Leu536Arg)
4g.47937112A>GCA356825915CNGA1,NIPAL1c.1370T>C (p.Leu457Pro)
c.1382T>C (p.Leu461Pro)
c.1589T>C (p.Leu530Pro)
n.479-21912A>G
n.563+22408A>G
c.1607T>C (p.Leu536Pro)
4g.47937112A>TCA356825916CNGA1,NIPAL1c.1370T>A (p.Leu457Gln)
c.1382T>A (p.Leu461Gln)
c.1589T>A (p.Leu530Gln)
n.479-21912A>T
n.563+22408A>T
c.1607T>A (p.Leu536Gln)
4g.47937113G>ACA439404187CNGA1,NIPAL1c.1369C>T (p.Leu457=)
c.1381C>T (p.Leu461=)
c.1588C>T (p.Leu530=)
n.479-21911G>A
n.563+22409G>A
c.1606C>T (p.Leu536=)
4g.47937113G>CCA2911090CNGA1,NIPAL1c.1369C>G (p.Leu457Val)
c.1381C>G (p.Leu461Val)
c.1588C>G (p.Leu530Val)
n.479-21911G>C
n.563+22409G>C
c.1606C>G (p.Leu536Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937113G=CA1455551842CNGA1,NIPAL1c.1369C= (p.Leu457=)
c.1381C= (p.Leu461=)
c.1588C= (p.Leu530=)
n.479-21911G=
n.563+22409G=
c.1606C= (p.Leu536=)
4g.47937113G>TCA356825917CNGA1,NIPAL1c.1369C>A (p.Leu457Ile)
c.1381C>A (p.Leu461Ile)
c.1588C>A (p.Leu530Ile)
n.479-21911G>T
n.563+22409G>T
c.1606C>A (p.Leu536Ile)
 gnomAD v4 COSMIC
4g.47937114T>ACA356825918CNGA1,NIPAL1c.1368A>T (p.Lys456Asn)
c.1380A>T (p.Lys460Asn)
c.1587A>T (p.Lys529Asn)
n.479-21910T>A
n.563+22410T>A
c.1605A>T (p.Lys535Asn)
4g.47937114T>CCA439404188CNGA1,NIPAL1c.1368A>G (p.Lys456=)
c.1380A>G (p.Lys460=)
c.1587A>G (p.Lys529=)
n.479-21910T>C
n.563+22410T>C
c.1605A>G (p.Lys535=)
4g.47937114T>GCA356825919CNGA1,NIPAL1c.1368A>C (p.Lys456Asn)
c.1380A>C (p.Lys460Asn)
c.1587A>C (p.Lys529Asn)
n.479-21910T>G
n.563+22410T>G
c.1605A>C (p.Lys535Asn)
4g.47937115T>ACA356825921CNGA1,NIPAL1c.1367A>T (p.Lys456Ile)
c.1379A>T (p.Lys460Ile)
c.1586A>T (p.Lys529Ile)
n.479-21909T>A
n.563+22411T>A
c.1604A>T (p.Lys535Ile)
4g.47937115T>CCA356825922CNGA1,NIPAL1c.1367A>G (p.Lys456Arg)
c.1379A>G (p.Lys460Arg)
c.1586A>G (p.Lys529Arg)
n.479-21909T>C
n.563+22411T>C
c.1604A>G (p.Lys535Arg)
4g.47937115T>GCA356825920CNGA1,NIPAL1c.1367A>C (p.Lys456Thr)
c.1379A>C (p.Lys460Thr)
c.1586A>C (p.Lys529Thr)
n.479-21909T>G
n.563+22411T>G
c.1604A>C (p.Lys535Thr)
4g.47937116T>ACA356825923CNGA1,NIPAL1c.1366A>T (p.Lys456Ter)
c.1378A>T (p.Lys460Ter)
c.1585A>T (p.Lys529Ter)
n.479-21908T>A
n.563+22412T>A
c.1603A>T (p.Lys535Ter)
4g.47937116T>CCA356825924CNGA1,NIPAL1c.1366A>G (p.Lys456Glu)
c.1378A>G (p.Lys460Glu)
c.1585A>G (p.Lys529Glu)
n.479-21908T>C
n.563+22412T>C
c.1603A>G (p.Lys535Glu)
 gnomAD v4
4g.47937116T>GCA356825925CNGA1,NIPAL1c.1366A>C (p.Lys456Gln)
c.1378A>C (p.Lys460Gln)
c.1585A>C (p.Lys529Gln)
n.479-21908T>G
n.563+22412T>G
c.1603A>C (p.Lys535Gln)
4g.47937117A=CA1455551843CNGA1,NIPAL1c.1365T= (p.Asp455=)
c.1377T= (p.Asp459=)
c.1584T= (p.Asp528=)
n.479-21907A=
n.563+22413A=
c.1602T= (p.Asp534=)
4g.47937117A>CCA356825926CNGA1,NIPAL1c.1365T>G (p.Asp455Glu)
c.1377T>G (p.Asp459Glu)
c.1584T>G (p.Asp528Glu)
n.479-21907A>C
n.563+22413A>C
c.1602T>G (p.Asp534Glu)
4g.47937117A>GCA2911091CNGA1,NIPAL1c.1365T>C (p.Asp455=)
c.1377T>C (p.Asp459=)
c.1584T>C (p.Asp528=)
n.479-21907A>G
n.563+22413A>G
c.1602T>C (p.Asp534=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937117A>TCA356825927CNGA1,NIPAL1c.1365T>A (p.Asp455Glu)
c.1377T>A (p.Asp459Glu)
c.1584T>A (p.Asp528Glu)
n.479-21907A>T
n.563+22413A>T
c.1602T>A (p.Asp534Glu)
 dbSNP gnomAD v4
4g.47937118T>ACA356825928CNGA1,NIPAL1c.1364A>T (p.Asp455Val)
c.1376A>T (p.Asp459Val)
c.1583A>T (p.Asp528Val)
n.479-21906T>A
n.563+22414T>A
c.1601A>T (p.Asp534Val)
4g.47937118T>CCA356825929CNGA1,NIPAL1c.1364A>G (p.Asp455Gly)
c.1376A>G (p.Asp459Gly)
c.1583A>G (p.Asp528Gly)
n.479-21906T>C
n.563+22414T>C
c.1601A>G (p.Asp534Gly)
4g.47937118T>GCA356825930CNGA1,NIPAL1c.1364A>C (p.Asp455Ala)
c.1376A>C (p.Asp459Ala)
c.1583A>C (p.Asp528Ala)
n.479-21906T>G
n.563+22414T>G
c.1601A>C (p.Asp534Ala)
4g.47937119C>ACA356825931CNGA1,NIPAL1c.1363G>T (p.Asp455Tyr)
c.1375G>T (p.Asp459Tyr)
c.1582G>T (p.Asp528Tyr)
n.479-21905C>A
n.563+22415C>A
c.1600G>T (p.Asp534Tyr)
4g.47937119C>GCA356825932CNGA1,NIPAL1c.1363G>C (p.Asp455His)
c.1375G>C (p.Asp459His)
c.1582G>C (p.Asp528His)
n.479-21905C>G
n.563+22415C>G
c.1600G>C (p.Asp534His)
4g.47937119C>TCA356825933CNGA1,NIPAL1c.1363G>A (p.Asp455Asn)
c.1375G>A (p.Asp459Asn)
c.1582G>A (p.Asp528Asn)
n.479-21905C>T
n.563+22415C>T
c.1600G>A (p.Asp534Asn)
 COSMIC COSMIC
4g.47937120A>CCA439404193CNGA1,NIPAL1c.1362T>G (p.Pro454=)
c.1374T>G (p.Pro458=)
c.1581T>G (p.Pro527=)
n.479-21904A>C
n.563+22416A>C
c.1599T>G (p.Pro533=)
4g.47937120A>GCA439404194CNGA1,NIPAL1c.1362T>C (p.Pro454=)
c.1374T>C (p.Pro458=)
c.1581T>C (p.Pro527=)
n.479-21904A>G
n.563+22416A>G
c.1599T>C (p.Pro533=)
 gnomAD v4
4g.47937120A>TCA439404195CNGA1,NIPAL1c.1362T>A (p.Pro454=)
c.1374T>A (p.Pro458=)
c.1581T>A (p.Pro527=)
n.479-21904A>T
n.563+22416A>T
c.1599T>A (p.Pro533=)
4g.47937121G>ACA356825935CNGA1,NIPAL1c.1361C>T (p.Pro454Leu)
c.1373C>T (p.Pro458Leu)
c.1580C>T (p.Pro527Leu)
n.479-21903G>A
n.563+22417G>A
c.1598C>T (p.Pro533Leu)
4g.47937121G>CCA356825936CNGA1,NIPAL1c.1361C>G (p.Pro454Arg)
c.1373C>G (p.Pro458Arg)
c.1580C>G (p.Pro527Arg)
n.479-21903G>C
n.563+22417G>C
c.1598C>G (p.Pro533Arg)
4g.47937121G>TCA356825934CNGA1,NIPAL1c.1361C>A (p.Pro454His)
c.1373C>A (p.Pro458His)
c.1580C>A (p.Pro527His)
n.479-21903G>T
n.563+22417G>T
c.1598C>A (p.Pro533His)
4g.47937122G>ACA356825937CNGA1,NIPAL1c.1360C>T (p.Pro454Ser)
c.1372C>T (p.Pro458Ser)
c.1579C>T (p.Pro527Ser)
n.479-21902G>A
n.563+22418G>A
c.1597C>T (p.Pro533Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.47937122G>CCA356825938CNGA1,NIPAL1c.1360C>G (p.Pro454Ala)
c.1372C>G (p.Pro458Ala)
c.1579C>G (p.Pro527Ala)
n.479-21902G>C
n.563+22418G>C
c.1597C>G (p.Pro533Ala)
4g.47937122G=CA1455551844CNGA1,NIPAL1c.1360C= (p.Pro454=)
c.1372C= (p.Pro458=)
c.1579C= (p.Pro527=)
n.479-21902G=
n.563+22418G=
c.1597C= (p.Pro533=)
4g.47937122G>TCA356825939CNGA1,NIPAL1c.1360C>A (p.Pro454Thr)
c.1372C>A (p.Pro458Thr)
c.1579C>A (p.Pro527Thr)
n.479-21902G>T
n.563+22418G>T
c.1597C>A (p.Pro533Thr)
4g.47937123T>ACA439404199CNGA1,NIPAL1c.1359A>T (p.Leu453=)
c.1371A>T (p.Leu457=)
c.1578A>T (p.Leu526=)
n.479-21901T>A
n.563+22419T>A
c.1596A>T (p.Leu532=)
4g.47937123T>CCA439404201CNGA1,NIPAL1c.1359A>G (p.Leu453=)
c.1371A>G (p.Leu457=)
c.1578A>G (p.Leu526=)
n.479-21901T>C
n.563+22419T>C
c.1596A>G (p.Leu532=)
4g.47937123T>GCA439404202CNGA1,NIPAL1c.1359A>C (p.Leu453=)
c.1371A>C (p.Leu457=)
c.1578A>C (p.Leu526=)
n.479-21901T>G
n.563+22419T>G
c.1596A>C (p.Leu532=)
4g.47937124A>CCA356825940CNGA1,NIPAL1c.1358T>G (p.Leu453Arg)
c.1370T>G (p.Leu457Arg)
c.1577T>G (p.Leu526Arg)
n.479-21900A>C
n.563+22420A>C
c.1595T>G (p.Leu532Arg)
4g.47937124A>GCA356825941CNGA1,NIPAL1c.1358T>C (p.Leu453Pro)
c.1370T>C (p.Leu457Pro)
c.1577T>C (p.Leu526Pro)
n.479-21900A>G
n.563+22420A>G
c.1595T>C (p.Leu532Pro)
4g.47937124A>TCA356825942CNGA1,NIPAL1c.1358T>A (p.Leu453Gln)
c.1370T>A (p.Leu457Gln)
c.1577T>A (p.Leu526Gln)
n.479-21900A>T
n.563+22420A>T
c.1595T>A (p.Leu532Gln)
4g.47937125G>ACA439404203CNGA1,NIPAL1c.1357C>T (p.Leu453=)
c.1369C>T (p.Leu457=)
c.1576C>T (p.Leu526=)
n.479-21899G>A
n.563+22421G>A
c.1594C>T (p.Leu532=)
4g.47937125G>CCA356825943CNGA1,NIPAL1c.1357C>G (p.Leu453Val)
c.1369C>G (p.Leu457Val)
c.1576C>G (p.Leu526Val)
n.479-21899G>C
n.563+22421G>C
c.1594C>G (p.Leu532Val)
4g.47937125G>TCA356825944CNGA1,NIPAL1c.1357C>A (p.Leu453Ile)
c.1369C>A (p.Leu457Ile)
c.1576C>A (p.Leu526Ile)
n.479-21899G>T
n.563+22421G>T
c.1594C>A (p.Leu532Ile)
4g.47937126A=CA1455551845CNGA1,NIPAL1c.1356T= (p.Tyr452=)
c.1368T= (p.Tyr456=)
c.1575T= (p.Tyr525=)
n.479-21898A=
n.563+22422A=
c.1593T= (p.Tyr531=)
4g.47937126A>CCA356825945CNGA1,NIPAL1c.1356T>G (p.Tyr452Ter)
c.1368T>G (p.Tyr456Ter)
c.1575T>G (p.Tyr525Ter)
n.479-21898A>C
n.563+22422A>C
c.1593T>G (p.Tyr531Ter)
4g.47937126A>GCA439404205CNGA1,NIPAL1c.1356T>C (p.Tyr452=)
c.1368T>C (p.Tyr456=)
c.1575T>C (p.Tyr525=)
n.479-21898A>G
n.563+22422A>G
c.1593T>C (p.Tyr531=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47937126A>TCA356825946CNGA1,NIPAL1c.1356T>A (p.Tyr452Ter)
c.1368T>A (p.Tyr456Ter)
c.1575T>A (p.Tyr525Ter)
n.479-21898A>T
n.563+22422A>T
c.1593T>A (p.Tyr531Ter)
4g.47937127T>ACA356825947CNGA1,NIPAL1c.1355A>T (p.Tyr452Phe)
c.1367A>T (p.Tyr456Phe)
c.1574A>T (p.Tyr525Phe)
n.479-21897T>A
n.563+22423T>A
c.1592A>T (p.Tyr531Phe)
4g.47937127T>CCA356825948CNGA1,NIPAL1c.1355A>G (p.Tyr452Cys)
c.1367A>G (p.Tyr456Cys)
c.1574A>G (p.Tyr525Cys)
n.479-21897T>C
n.563+22423T>C
c.1592A>G (p.Tyr531Cys)
4g.47937127T>GCA356825949CNGA1,NIPAL1c.1355A>C (p.Tyr452Ser)
c.1367A>C (p.Tyr456Ser)
c.1574A>C (p.Tyr525Ser)
n.479-21897T>G
n.563+22423T>G
c.1592A>C (p.Tyr531Ser)
4g.47937128A=CA1455551846CNGA1,NIPAL1c.1354T= (p.Tyr452=)
c.1366T= (p.Tyr456=)
c.1573T= (p.Tyr525=)
n.479-21896A=
n.563+22424A=
c.1591T= (p.Tyr531=)
4g.47937128A>CCA356825952CNGA1,NIPAL1c.1354T>G (p.Tyr452Asp)
c.1366T>G (p.Tyr456Asp)
c.1573T>G (p.Tyr525Asp)
n.479-21896A>C
n.563+22424A>C
c.1591T>G (p.Tyr531Asp)
4g.47937128A>GCA356825951CNGA1,NIPAL1c.1354T>C (p.Tyr452His)
c.1366T>C (p.Tyr456His)
c.1573T>C (p.Tyr525His)
n.479-21896A>G
n.563+22424A>G
c.1591T>C (p.Tyr531His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.47937128A>TCA356825950CNGA1,NIPAL1c.1354T>A (p.Tyr452Asn)
c.1366T>A (p.Tyr456Asn)
c.1573T>A (p.Tyr525Asn)
n.479-21896A>T
n.563+22424A>T
c.1591T>A (p.Tyr531Asn)
4g.47937128dupCA2578081539CNGA1,NIPAL1c.1354dup (p.Tyr452LeufsTer4)
c.1366dup (p.Tyr456LeufsTer4)
c.1573dup (p.Tyr525LeufsTer4)
n.479-21896dup
n.563+22424dup
c.1591dup (p.Tyr531LeufsTer4)
4g.47937129C>ACA356825953CNGA1,NIPAL1c.1353G>T (p.Lys451Asn)
c.1365G>T (p.Lys455Asn)
c.1572G>T (p.Lys524Asn)
n.479-21895C>A
n.563+22425C>A
c.1590G>T (p.Lys530Asn)
4g.47937129C>GCA356825954CNGA1,NIPAL1c.1353G>C (p.Lys451Asn)
c.1365G>C (p.Lys455Asn)
c.1572G>C (p.Lys524Asn)
n.479-21895C>G
n.563+22425C>G
c.1590G>C (p.Lys530Asn)
4g.47937129C>TCA439404207CNGA1,NIPAL1c.1353G>A (p.Lys451=)
c.1365G>A (p.Lys455=)
c.1572G>A (p.Lys524=)
n.479-21895C>T
n.563+22425C>T
c.1590G>A (p.Lys530=)
 gnomAD v4
4g.47937130T>ACA356825955CNGA1,NIPAL1c.1352A>T (p.Lys451Met)
c.1364A>T (p.Lys455Met)
c.1571A>T (p.Lys524Met)
n.479-21894T>A
n.563+22426T>A
c.1589A>T (p.Lys530Met)
4g.47937130T>CCA356825956CNGA1,NIPAL1c.1352A>G (p.Lys451Arg)
c.1364A>G (p.Lys455Arg)
c.1571A>G (p.Lys524Arg)
n.479-21894T>C
n.563+22426T>C
c.1589A>G (p.Lys530Arg)
4g.47937130T>GCA356825957CNGA1,NIPAL1c.1352A>C (p.Lys451Thr)
c.1364A>C (p.Lys455Thr)
c.1571A>C (p.Lys524Thr)
n.479-21894T>G
n.563+22426T>G
c.1589A>C (p.Lys530Thr)
4g.47937131T>ACA356825958CNGA1,NIPAL1c.1351A>T (p.Lys451Ter)
c.1363A>T (p.Lys455Ter)
c.1570A>T (p.Lys524Ter)
n.479-21893T>A
n.563+22427T>A
c.1588A>T (p.Lys530Ter)
4g.47937131T>CCA356825959CNGA1,NIPAL1c.1351A>G (p.Lys451Glu)
c.1363A>G (p.Lys455Glu)
c.1570A>G (p.Lys524Glu)
n.479-21893T>C
n.563+22427T>C
c.1588A>G (p.Lys530Glu)
4g.47937131T>GCA356825960CNGA1,NIPAL1c.1351A>C (p.Lys451Gln)
c.1363A>C (p.Lys455Gln)
c.1570A>C (p.Lys524Gln)
n.479-21893T>G
n.563+22427T>G
c.1588A>C (p.Lys530Gln)
4g.47937132T>ACA356825962CNGA1,NIPAL1c.1350A>T (p.Leu450Phe)
c.1362A>T (p.Leu454Phe)
c.1569A>T (p.Leu523Phe)
n.479-21892T>A
n.563+22428T>A
c.1587A>T (p.Leu529Phe)
4g.47937132T>CCA2911092CNGA1,NIPAL1c.1350A>G (p.Leu450=)
c.1362A>G (p.Leu454=)
c.1569A>G (p.Leu523=)
n.479-21892T>C
n.563+22428T>C
c.1587A>G (p.Leu529=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937132T>GCA356825961CNGA1,NIPAL1c.1350A>C (p.Leu450Phe)
c.1362A>C (p.Leu454Phe)
c.1569A>C (p.Leu523Phe)
n.479-21892T>G
n.563+22428T>G
c.1587A>C (p.Leu529Phe)
4g.47937132T=CA1455551847CNGA1,NIPAL1c.1350A= (p.Leu450=)
c.1362A= (p.Leu454=)
c.1569A= (p.Leu523=)
n.479-21892T=
n.563+22428T=
c.1587A= (p.Leu529=)
4g.47937133A>CCA356825963CNGA1,NIPAL1c.1349T>G (p.Leu450Ter)
c.1361T>G (p.Leu454Ter)
c.1568T>G (p.Leu523Ter)
n.479-21891A>C
n.563+22429A>C
c.1586T>G (p.Leu529Ter)
4g.47937133A>GCA356825964CNGA1,NIPAL1c.1349T>C (p.Leu450Ser)
c.1361T>C (p.Leu454Ser)
c.1568T>C (p.Leu523Ser)
n.479-21891A>G
n.563+22429A>G
c.1586T>C (p.Leu529Ser)
 gnomAD v4
4g.47937133A>TCA356825965CNGA1,NIPAL1c.1349T>A (p.Leu450Ter)
c.1361T>A (p.Leu454Ter)
c.1568T>A (p.Leu523Ter)
n.479-21891A>T
n.563+22429A>T
c.1586T>A (p.Leu529Ter)
4g.47937134A>CCA356825966CNGA1,NIPAL1c.1348T>G (p.Leu450Val)
c.1360T>G (p.Leu454Val)
c.1567T>G (p.Leu523Val)
n.479-21890A>C
n.563+22430A>C
c.1585T>G (p.Leu529Val)
4g.47937134A>GCA439404209CNGA1,NIPAL1c.1348T>C (p.Leu450=)
c.1360T>C (p.Leu454=)
c.1567T>C (p.Leu523=)
n.479-21890A>G
n.563+22430A>G
c.1585T>C (p.Leu529=)
 gnomAD v4
4g.47937134A>TCA356825967CNGA1,NIPAL1c.1348T>A (p.Leu450Ile)
c.1360T>A (p.Leu454Ile)
c.1567T>A (p.Leu523Ile)
n.479-21890A>T
n.563+22430A>T
c.1585T>A (p.Leu529Ile)
4g.47937135G>ACA439404213CNGA1,NIPAL1c.1347C>T (p.Val449=)
c.1359C>T (p.Val453=)
c.1566C>T (p.Val522=)
n.479-21889G>A
n.563+22431G>A
c.1584C>T (p.Val528=)
4g.47937135G>CCA439404214CNGA1,NIPAL1c.1347C>G (p.Val449=)
c.1359C>G (p.Val453=)
c.1566C>G (p.Val522=)
n.479-21889G>C
n.563+22431G>C
c.1584C>G (p.Val528=)
4g.47937135G=CA1455551848CNGA1,NIPAL1c.1347C= (p.Val449=)
c.1359C= (p.Val453=)
c.1566C= (p.Val522=)
n.479-21889G=
n.563+22431G=
c.1584C= (p.Val528=)
4g.47937135G>TCA439404216CNGA1,NIPAL1c.1347C>A (p.Val449=)
c.1359C>A (p.Val453=)
c.1566C>A (p.Val522=)
n.479-21889G>T
n.563+22431G>T
c.1584C>A (p.Val528=)
 dbSNP gnomAD v3 gnomAD v4
4g.47937136A=CA1455551849CNGA1,NIPAL1c.1346T= (p.Val449=)
c.1358T= (p.Val453=)
c.1565T= (p.Val522=)
n.479-21888A=
n.563+22432A=
c.1583T= (p.Val528=)
4g.47937136A>CCA356825968CNGA1,NIPAL1c.1346T>G (p.Val449Gly)
c.1358T>G (p.Val453Gly)
c.1565T>G (p.Val522Gly)
n.479-21888A>C
n.563+22432A>C
c.1583T>G (p.Val528Gly)
4g.47937136A>GCA356825970CNGA1,NIPAL1c.1346T>C (p.Val449Ala)
c.1358T>C (p.Val453Ala)
c.1565T>C (p.Val522Ala)
n.479-21888A>G
n.563+22432A>G
c.1583T>C (p.Val528Ala)
 ClinVar dbSNP gnomAD v4
4g.47937136A>TCA356825969CNGA1,NIPAL1c.1346T>A (p.Val449Asp)
c.1358T>A (p.Val453Asp)
c.1565T>A (p.Val522Asp)
n.479-21888A>T
n.563+22432A>T
c.1583T>A (p.Val528Asp)
4g.47937137C>ACA2911093CNGA1,NIPAL1c.1345G>T (p.Val449Phe)
c.1357G>T (p.Val453Phe)
c.1564G>T (p.Val522Phe)
n.479-21887C>A
n.563+22433C>A
c.1582G>T (p.Val528Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937137C=CA1455551850CNGA1,NIPAL1c.1345G= (p.Val449=)
c.1357G= (p.Val453=)
c.1564G= (p.Val522=)
n.479-21887C=
n.563+22433C=
c.1582G= (p.Val528=)
4g.47937137C>GCA356825971CNGA1,NIPAL1c.1345G>C (p.Val449Leu)
c.1357G>C (p.Val453Leu)
c.1564G>C (p.Val522Leu)
n.479-21887C>G
n.563+22433C>G
c.1582G>C (p.Val528Leu)
4g.47937137C>TCA356825972CNGA1,NIPAL1c.1345G>A (p.Val449Ile)
c.1357G>A (p.Val453Ile)
c.1564G>A (p.Val522Ile)
n.479-21887C>T
n.563+22433C>T
c.1582G>A (p.Val528Ile)
4g.47937138T>ACA356825973CNGA1,NIPAL1c.1344A>T (p.Glu448Asp)
c.1356A>T (p.Glu452Asp)
c.1563A>T (p.Glu521Asp)
n.479-21886T>A
n.563+22434T>A
c.1581A>T (p.Glu527Asp)
 gnomAD v4
4g.47937138T>CCA439404218CNGA1,NIPAL1c.1344A>G (p.Glu448=)
c.1356A>G (p.Glu452=)
c.1563A>G (p.Glu521=)
n.479-21886T>C
n.563+22434T>C
c.1581A>G (p.Glu527=)
4g.47937138T>GCA356825974CNGA1,NIPAL1c.1344A>C (p.Glu448Asp)
c.1356A>C (p.Glu452Asp)
c.1563A>C (p.Glu521Asp)
n.479-21886T>G
n.563+22434T>G
c.1581A>C (p.Glu527Asp)
4g.47937139T>ACA356825975CNGA1,NIPAL1c.1343A>T (p.Glu448Val)
c.1355A>T (p.Glu452Val)
c.1562A>T (p.Glu521Val)
n.479-21885T>A
n.563+22435T>A
c.1580A>T (p.Glu527Val)
4g.47937139T>CCA356825976CNGA1,NIPAL1c.1343A>G (p.Glu448Gly)
c.1355A>G (p.Glu452Gly)
c.1562A>G (p.Glu521Gly)
n.479-21885T>C
n.563+22435T>C
c.1580A>G (p.Glu527Gly)
4g.47937139T>GCA356825977CNGA1,NIPAL1c.1343A>C (p.Glu448Ala)
c.1355A>C (p.Glu452Ala)
c.1562A>C (p.Glu521Ala)
n.479-21885T>G
n.563+22435T>G
c.1580A>C (p.Glu527Ala)
4g.47937140C>ACA356825978CNGA1,NIPAL1c.1342G>T (p.Glu448Ter)
c.1354G>T (p.Glu452Ter)
c.1561G>T (p.Glu521Ter)
n.479-21884C>A
n.563+22436C>A
c.1579G>T (p.Glu527Ter)
4g.47937140C=CA1455551851CNGA1,NIPAL1c.1342G= (p.Glu448=)
c.1354G= (p.Glu452=)
c.1561G= (p.Glu521=)
n.479-21884C=
n.563+22436C=
c.1579G= (p.Glu527=)
4g.47937140C>GCA356825979CNGA1,NIPAL1c.1342G>C (p.Glu448Gln)
c.1354G>C (p.Glu452Gln)
c.1561G>C (p.Glu521Gln)
n.479-21884C>G
n.563+22436C>G
c.1579G>C (p.Glu527Gln)
 dbSNP gnomAD v2 gnomAD v4
4g.47937140C>TCA356825980CNGA1,NIPAL1c.1342G>A (p.Glu448Lys)
c.1354G>A (p.Glu452Lys)
c.1561G>A (p.Glu521Lys)
n.479-21884C>T
n.563+22436C>T
c.1579G>A (p.Glu527Lys)
4g.47937140_47937141insCCCA2761332296CNGA1,NIPAL1c.1342_1343insGG (p.Glu448GlyfsTer4)
c.1354_1355insGG (p.Glu452GlyfsTer4)
c.1561_1562insGG (p.Glu521GlyfsTer4)
n.479-21884_479-21883insCC
n.563+22436_563+22437insCC
c.1579_1580insGG (p.Glu527GlyfsTer4)
4g.47937141T>ACA356825981CNGA1,NIPAL1c.1341A>T (p.Lys447Asn)
c.1353A>T (p.Lys451Asn)
c.1560A>T (p.Lys520Asn)
n.479-21883T>A
n.563+22437T>A
c.1578A>T (p.Lys526Asn)
4g.47937141T>CCA439404221CNGA1,NIPAL1c.1341A>G (p.Lys447=)
c.1353A>G (p.Lys451=)
c.1560A>G (p.Lys520=)
n.479-21883T>C
n.563+22437T>C
c.1578A>G (p.Lys526=)
 dbSNP
4g.47937141T>GCA356825982CNGA1,NIPAL1c.1341A>C (p.Lys447Asn)
c.1353A>C (p.Lys451Asn)
c.1560A>C (p.Lys520Asn)
n.479-21883T>G
n.563+22437T>G
c.1578A>C (p.Lys526Asn)
4g.47937141T=CA1455551852CNGA1,NIPAL1c.1341A= (p.Lys447=)
c.1353A= (p.Lys451=)
c.1560A= (p.Lys520=)
n.479-21883T=
n.563+22437T=
c.1578A= (p.Lys526=)
4g.47937142T>ACA356825983CNGA1,NIPAL1c.1340A>T (p.Lys447Ile)
c.1352A>T (p.Lys451Ile)
c.1559A>T (p.Lys520Ile)
n.479-21882T>A
n.563+22438T>A
c.1577A>T (p.Lys526Ile)
4g.47937142T>CCA356825984CNGA1,NIPAL1c.1340A>G (p.Lys447Arg)
c.1352A>G (p.Lys451Arg)
c.1559A>G (p.Lys520Arg)
n.479-21882T>C
n.563+22438T>C
c.1577A>G (p.Lys526Arg)
4g.47937142T>GCA356825985CNGA1,NIPAL1c.1340A>C (p.Lys447Thr)
c.1352A>C (p.Lys451Thr)
c.1559A>C (p.Lys520Thr)
n.479-21882T>G
n.563+22438T>G
c.1577A>C (p.Lys526Thr)
4g.47937143T>ACA356825986CNGA1,NIPAL1c.1339A>T (p.Lys447Ter)
c.1351A>T (p.Lys451Ter)
c.1558A>T (p.Lys520Ter)
n.479-21881T>A
n.563+22439T>A
c.1576A>T (p.Lys526Ter)
4g.47937143T>CCA356825987CNGA1,NIPAL1c.1339A>G (p.Lys447Glu)
c.1351A>G (p.Lys451Glu)
c.1558A>G (p.Lys520Glu)
n.479-21881T>C
n.563+22439T>C
c.1576A>G (p.Lys526Glu)
 dbSNP
4g.47937143T>GCA356825988CNGA1,NIPAL1c.1339A>C (p.Lys447Gln)
c.1351A>C (p.Lys451Gln)
c.1558A>C (p.Lys520Gln)
n.479-21881T>G
n.563+22439T>G
c.1576A>C (p.Lys526Gln)
4g.47937143T=CA1455551853CNGA1,NIPAL1c.1339A= (p.Lys447=)
c.1351A= (p.Lys451=)
c.1558A= (p.Lys520=)
n.479-21881T=
n.563+22439T=
c.1576A= (p.Lys526=)
4g.47937145_47937146delCA2761332297CNGA1,NIPAL1c.1338_1339del (p.Lys447ArgfsTer8)
c.1350_1351del (p.Lys451ArgfsTer8)
c.1557_1558del (p.Lys520ArgfsTer8)
n.479-21879_479-21878del
n.563+22441_563+22442del
c.1575_1576del (p.Lys526ArgfsTer8)
4g.47937144C>ACA356825989CNGA1,NIPAL1c.1338G>T (p.Glu446Asp)
c.1350G>T (p.Glu450Asp)
c.1557G>T (p.Glu519Asp)
n.479-21880C>A
n.563+22440C>A
c.1575G>T (p.Glu525Asp)
4g.47937144C>GCA356825990CNGA1,NIPAL1c.1338G>C (p.Glu446Asp)
c.1350G>C (p.Glu450Asp)
c.1557G>C (p.Glu519Asp)
n.479-21880C>G
n.563+22440C>G
c.1575G>C (p.Glu525Asp)
 gnomAD v3 gnomAD v4
4g.47937144C>TCA439404007CNGA1,NIPAL1c.1338G>A (p.Glu446=)
c.1350G>A (p.Glu450=)
c.1557G>A (p.Glu519=)
n.479-21880C>T
n.563+22440C>T
c.1575G>A (p.Glu525=)
4g.47937144_47937145delinsCTCA1455551854CNGA1,NIPAL1c.1337_1338delinsAG (p.Glu446=)
c.1349_1350delinsAG (p.Glu450=)
c.1556_1557delinsAG (p.Glu519=)
n.479-21880_479-21879delinsCT
n.563+22440_563+22441delinsCT
c.1574_1575delinsAG (p.Glu525=)
4g.47937145delCA2911094CNGA1,NIPAL1c.1337del (p.Glu446GlyfsTer5)
c.1349del (p.Glu450GlyfsTer5)
c.1556del (p.Glu519GlyfsTer5)
n.479-21879del
n.563+22441del
c.1574del (p.Glu525GlyfsTer5)
 dbSNP ExAC gnomAD v4
4g.47937145T>ACA356825991CNGA1,NIPAL1c.1337A>T (p.Glu446Val)
c.1349A>T (p.Glu450Val)
c.1556A>T (p.Glu519Val)
n.479-21879T>A
n.563+22441T>A
c.1574A>T (p.Glu525Val)
4g.47937145T>CCA356825992CNGA1,NIPAL1c.1337A>G (p.Glu446Gly)
c.1349A>G (p.Glu450Gly)
c.1556A>G (p.Glu519Gly)
n.479-21879T>C
n.563+22441T>C
c.1574A>G (p.Glu525Gly)
 dbSNP
4g.47937145T>GCA356825993CNGA1,NIPAL1c.1337A>C (p.Glu446Ala)
c.1349A>C (p.Glu450Ala)
c.1556A>C (p.Glu519Ala)
n.479-21879T>G
n.563+22441T>G
c.1574A>C (p.Glu525Ala)
4g.47937146C>ACA356825995CNGA1,NIPAL1c.1336G>T (p.Glu446Ter)
c.1348G>T (p.Glu450Ter)
c.1555G>T (p.Glu519Ter)
n.479-21878C>A
n.563+22442C>A
c.1573G>T (p.Glu525Ter)
4g.47937146C>GCA356825996CNGA1,NIPAL1c.1336G>C (p.Glu446Gln)
c.1348G>C (p.Glu450Gln)
c.1555G>C (p.Glu519Gln)
n.479-21878C>G
n.563+22442C>G
c.1573G>C (p.Glu525Gln)
4g.47937146C>TCA356825994CNGA1,NIPAL1c.1336G>A (p.Glu446Lys)
c.1348G>A (p.Glu450Lys)
c.1555G>A (p.Glu519Lys)
n.479-21878C>T
n.563+22442C>T
c.1573G>A (p.Glu525Lys)
 ClinVar dbSNP
4g.47937147A>CCA356825997CNGA1,NIPAL1c.1335T>G (p.Asp445Glu)
c.1347T>G (p.Asp449Glu)
c.1554T>G (p.Asp518Glu)
n.479-21877A>C
n.563+22443A>C
c.1572T>G (p.Asp524Glu)
4g.47937147A>GCA439404022CNGA1,NIPAL1c.1335T>C (p.Asp445=)
c.1347T>C (p.Asp449=)
c.1554T>C (p.Asp518=)
n.479-21877A>G
n.563+22443A>G
c.1572T>C (p.Asp524=)
4g.47937147A>TCA356825998CNGA1,NIPAL1c.1335T>A (p.Asp445Glu)
c.1347T>A (p.Asp449Glu)
c.1554T>A (p.Asp518Glu)
n.479-21877A>T
n.563+22443A>T
c.1572T>A (p.Asp524Glu)
4g.47937148T>ACA356825999CNGA1,NIPAL1c.1334A>T (p.Asp445Val)
c.1346A>T (p.Asp449Val)
c.1553A>T (p.Asp518Val)
n.479-21876T>A
n.563+22444T>A
c.1571A>T (p.Asp524Val)
4g.47937148T>CCA356826000CNGA1,NIPAL1c.1334A>G (p.Asp445Gly)
c.1346A>G (p.Asp449Gly)
c.1553A>G (p.Asp518Gly)
n.479-21876T>C
n.563+22444T>C
c.1571A>G (p.Asp524Gly)
4g.47937148T>GCA356826001CNGA1,NIPAL1c.1334A>C (p.Asp445Ala)
c.1346A>C (p.Asp449Ala)
c.1553A>C (p.Asp518Ala)
n.479-21876T>G
n.563+22444T>G
c.1571A>C (p.Asp524Ala)
4g.47937149C>ACA356826004CNGA1,NIPAL1c.1333G>T (p.Asp445Tyr)
c.1345G>T (p.Asp449Tyr)
c.1552G>T (p.Asp518Tyr)
n.479-21875C>A
n.563+22445C>A
c.1570G>T (p.Asp524Tyr)
4g.47937149C>GCA356826002CNGA1,NIPAL1c.1333G>C (p.Asp445His)
c.1345G>C (p.Asp449His)
c.1552G>C (p.Asp518His)
n.479-21875C>G
n.563+22445C>G
c.1570G>C (p.Asp524His)
4g.47937149C>TCA356826003CNGA1,NIPAL1c.1333G>A (p.Asp445Asn)
c.1345G>A (p.Asp449Asn)
c.1552G>A (p.Asp518Asn)
n.479-21875C>T
n.563+22445C>T
c.1570G>A (p.Asp524Asn)
 ClinVar
4g.47937150A>CCA439404027CNGA1,NIPAL1c.1332T>G (p.Val444=)
c.1344T>G (p.Val448=)
c.1551T>G (p.Val517=)
n.479-21874A>C
n.563+22446A>C
c.1569T>G (p.Val523=)
4g.47937150A>GCA439404028CNGA1,NIPAL1c.1332T>C (p.Val444=)
c.1344T>C (p.Val448=)
c.1551T>C (p.Val517=)
n.479-21874A>G
n.563+22446A>G
c.1569T>C (p.Val523=)
4g.47937150A>TCA439404029CNGA1,NIPAL1c.1332T>A (p.Val444=)
c.1344T>A (p.Val448=)
c.1551T>A (p.Val517=)
n.479-21874A>T
n.563+22446A>T
c.1569T>A (p.Val523=)
4g.47937151A=CA1455551855CNGA1,NIPAL1c.1331T= (p.Val444=)
c.1343T= (p.Val448=)
c.1550T= (p.Val517=)
n.479-21873A=
n.563+22447A=
c.1568T= (p.Val523=)
4g.47937151A>CCA356826005CNGA1,NIPAL1c.1331T>G (p.Val444Gly)
c.1343T>G (p.Val448Gly)
c.1550T>G (p.Val517Gly)
n.479-21873A>C
n.563+22447A>C
c.1568T>G (p.Val523Gly)
4g.47937151A>GCA356826006CNGA1,NIPAL1c.1331T>C (p.Val444Ala)
c.1343T>C (p.Val448Ala)
c.1550T>C (p.Val517Ala)
n.479-21873A>G
n.563+22447A>G
c.1568T>C (p.Val523Ala)
 dbSNP gnomAD v4
4g.47937151A>TCA356826007CNGA1,NIPAL1c.1331T>A (p.Val444Asp)
c.1343T>A (p.Val448Asp)
c.1550T>A (p.Val517Asp)
n.479-21873A>T
n.563+22447A>T
c.1568T>A (p.Val523Asp)
4g.47937152C>ACA356826008CNGA1,NIPAL1c.1330G>T (p.Val444Phe)
c.1342G>T (p.Val448Phe)
c.1549G>T (p.Val517Phe)
n.479-21872C>A
n.563+22448C>A
c.1567G>T (p.Val523Phe)
 COSMIC
4g.47937152C=CA1455551856CNGA1,NIPAL1c.1330G= (p.Val444=)
c.1342G= (p.Val448=)
c.1549G= (p.Val517=)
n.479-21872C=
n.563+22448C=
c.1567G= (p.Val523=)
4g.47937152C>GCA96688731CNGA1,NIPAL1c.1330G>C (p.Val444Leu)
c.1342G>C (p.Val448Leu)
c.1549G>C (p.Val517Leu)
n.479-21872C>G
n.563+22448C>G
c.1567G>C (p.Val523Leu)
 dbSNP gnomAD v2 gnomAD v4
4g.47937152C>TCA2911095CNGA1,NIPAL1c.1330G>A (p.Val444Ile)
c.1342G>A (p.Val448Ile)
c.1549G>A (p.Val517Ile)
n.479-21872C>T
n.563+22448C>T
c.1567G>A (p.Val523Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937153T>ACA439404032CNGA1,NIPAL1c.1329A>T (p.Thr443=)
c.1341A>T (p.Thr447=)
c.1548A>T (p.Thr516=)
n.479-21871T>A
n.563+22449T>A
c.1566A>T (p.Thr522=)
4g.47937153T>CCA439404034CNGA1,NIPAL1c.1329A>G (p.Thr443=)
c.1341A>G (p.Thr447=)
c.1548A>G (p.Thr516=)
n.479-21871T>C
n.563+22449T>C
c.1566A>G (p.Thr522=)
4g.47937153T>GCA439404033CNGA1,NIPAL1c.1329A>C (p.Thr443=)
c.1341A>C (p.Thr447=)
c.1548A>C (p.Thr516=)
n.479-21871T>G
n.563+22449T>G
c.1566A>C (p.Thr522=)
4g.47937153_47937154delinsTGCA1455551857CNGA1,NIPAL1c.1328_1329delinsCA (p.Thr443=)
c.1340_1341delinsCA (p.Thr447=)
c.1547_1548delinsCA (p.Thr516=)
n.479-21871_479-21870delinsTG
n.563+22449_563+22450delinsTG
c.1565_1566delinsCA (p.Thr522=)
4g.47937154delCA795526961CNGA1,NIPAL1c.1328del (p.Thr443LysfsTer8)
c.1340del (p.Thr447LysfsTer8)
c.1547del (p.Thr516LysfsTer8)
n.479-21870del
n.563+22450del
c.1565del (p.Thr522LysfsTer8)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47937154G>ACA356826010CNGA1,NIPAL1c.1328C>T (p.Thr443Ile)
c.1340C>T (p.Thr447Ile)
c.1547C>T (p.Thr516Ile)
n.479-21870G>A
n.563+22450G>A
c.1565C>T (p.Thr522Ile)
4g.47937154G>CCA2911097CNGA1,NIPAL1c.1328C>G (p.Thr443Arg)
c.1340C>G (p.Thr447Arg)
c.1547C>G (p.Thr516Arg)
n.479-21870G>C
n.563+22450G>C
c.1565C>G (p.Thr522Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937154G=CA1455551859CNGA1,NIPAL1c.1328C= (p.Thr443=)
c.1340C= (p.Thr447=)
c.1547C= (p.Thr516=)
n.479-21870G=
n.563+22450G=
c.1565C= (p.Thr522=)
4g.47937154G>TCA356826009CNGA1,NIPAL1c.1328C>A (p.Thr443Lys)
c.1340C>A (p.Thr447Lys)
c.1547C>A (p.Thr516Lys)
n.479-21870G>T
n.563+22450G>T
c.1565C>A (p.Thr522Lys)
4g.47937154_47937155delinsGTCA1455551858CNGA1,NIPAL1c.1327_1328delinsAC (p.Thr443=)
c.1339_1340delinsAC (p.Thr447=)
c.1546_1547delinsAC (p.Thr516=)
n.479-21870_479-21869delinsGT
n.563+22450_563+22451delinsGT
c.1564_1565delinsAC (p.Thr522=)
4g.47937154_47937155insCCA2670552350CNGA1,NIPAL1c.1327_1328insG (p.Thr443SerfsTer3)
c.1339_1340insG (p.Thr447SerfsTer3)
c.1546_1547insG (p.Thr516SerfsTer3)
n.479-21870_479-21869insC
n.563+22450_563+22451insC
c.1564_1565insG (p.Thr522SerfsTer3)
 gnomAD v4
4g.47937155T>ACA356826011CNGA1,NIPAL1c.1327A>T (p.Thr443Ser)
c.1339A>T (p.Thr447Ser)
c.1546A>T (p.Thr516Ser)
n.479-21869T>A
n.563+22451T>A
c.1564A>T (p.Thr522Ser)
4g.47937155T>CCA356826012CNGA1,NIPAL1c.1327A>G (p.Thr443Ala)
c.1339A>G (p.Thr447Ala)
c.1546A>G (p.Thr516Ala)
n.479-21869T>C
n.563+22451T>C
c.1564A>G (p.Thr522Ala)
 dbSNP
4g.47937155T>GCA356826013CNGA1,NIPAL1c.1327A>C (p.Thr443Pro)
c.1339A>C (p.Thr447Pro)
c.1546A>C (p.Thr516Pro)
n.479-21869T>G
n.563+22451T>G
c.1564A>C (p.Thr522Pro)
4g.47937161dupCA2911096CNGA1,NIPAL1c.1327dup (p.Thr443AsnfsTer3)
c.1339dup (p.Thr447AsnfsTer3)
c.1546dup (p.Thr516AsnfsTer3)
n.479-21863dup
n.563+22457dup
c.1564dup (p.Thr522AsnfsTer3)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.47937161delCA439404042CNGA1,NIPAL1c.1327del (p.Thr443GlnfsTer8)
c.1339del (p.Thr447GlnfsTer8)
c.1546del (p.Thr516GlnfsTer8)
n.479-21863del
n.563+22457del
c.1564del (p.Thr522GlnfsTer8)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.47937155_47937156insACA439404043CNGA1,NIPAL1c.1326_1327insT (p.Thr443TyrfsTer3)
c.1338_1339insT (p.Thr447TyrfsTer3)
c.1545_1546insT (p.Thr516TyrfsTer3)
n.479-21869_479-21868insA
n.563+22451_563+22452insA
c.1563_1564insT (p.Thr522TyrfsTer3)
4g.47937156T>ACA356826014CNGA1,NIPAL1c.1326A>T (p.Lys442Asn)
c.1338A>T (p.Lys446Asn)
c.1545A>T (p.Lys515Asn)
n.479-21868T>A
n.563+22452T>A
c.1563A>T (p.Lys521Asn)
4g.47937156T>CCA439404044CNGA1,NIPAL1c.1326A>G (p.Lys442=)
c.1338A>G (p.Lys446=)
c.1545A>G (p.Lys515=)
n.479-21868T>C
n.563+22452T>C
c.1563A>G (p.Lys521=)
4g.47937156T>GCA356826015CNGA1,NIPAL1c.1326A>C (p.Lys442Asn)
c.1338A>C (p.Lys446Asn)
c.1545A>C (p.Lys515Asn)
n.479-21868T>G
n.563+22452T>G
c.1563A>C (p.Lys521Asn)
4g.47937157T>ACA356826018CNGA1,NIPAL1c.1325A>T (p.Lys442Ile)
c.1337A>T (p.Lys446Ile)
c.1544A>T (p.Lys515Ile)
n.479-21867T>A
n.563+22453T>A
c.1562A>T (p.Lys521Ile)
4g.47937157T>CCA356826016CNGA1,NIPAL1c.1325A>G (p.Lys442Arg)
c.1337A>G (p.Lys446Arg)
c.1544A>G (p.Lys515Arg)
n.479-21867T>C
n.563+22453T>C
c.1562A>G (p.Lys521Arg)
4g.47937157T>GCA356826017CNGA1,NIPAL1c.1325A>C (p.Lys442Thr)
c.1337A>C (p.Lys446Thr)
c.1544A>C (p.Lys515Thr)
n.479-21867T>G
n.563+22453T>G
c.1562A>C (p.Lys521Thr)
4g.47937158T>ACA356826019CNGA1,NIPAL1c.1324A>T (p.Lys442Ter)
c.1336A>T (p.Lys446Ter)
c.1543A>T (p.Lys515Ter)
n.479-21866T>A
n.563+22454T>A
c.1561A>T (p.Lys521Ter)
4g.47937158T>CCA356826020CNGA1,NIPAL1c.1324A>G (p.Lys442Glu)
c.1336A>G (p.Lys446Glu)
c.1543A>G (p.Lys515Glu)
n.479-21866T>C
n.563+22454T>C
c.1561A>G (p.Lys521Glu)
4g.47937158T>GCA356826021CNGA1,NIPAL1c.1324A>C (p.Lys442Gln)
c.1336A>C (p.Lys446Gln)
c.1543A>C (p.Lys515Gln)
n.479-21866T>G
n.563+22454T>G
c.1561A>C (p.Lys521Gln)
4g.47937159T>ACA356826022CNGA1,NIPAL1c.1323A>T (p.Lys441Asn)
c.1335A>T (p.Lys445Asn)
c.1542A>T (p.Lys514Asn)
n.479-21865T>A
n.563+22455T>A
c.1560A>T (p.Lys520Asn)
4g.47937159T>CCA439404048CNGA1,NIPAL1c.1323A>G (p.Lys441=)
c.1335A>G (p.Lys445=)
c.1542A>G (p.Lys514=)
n.479-21865T>C
n.563+22455T>C
c.1560A>G (p.Lys520=)
4g.47937159T>GCA356826023CNGA1,NIPAL1c.1323A>C (p.Lys441Asn)
c.1335A>C (p.Lys445Asn)
c.1542A>C (p.Lys514Asn)
n.479-21865T>G
n.563+22455T>G
c.1560A>C (p.Lys520Asn)
4g.47937160T>ACA356826026CNGA1,NIPAL1c.1322A>T (p.Lys441Ile)
c.1334A>T (p.Lys445Ile)
c.1541A>T (p.Lys514Ile)
n.479-21864T>A
n.563+22456T>A
c.1559A>T (p.Lys520Ile)
4g.47937160T>CCA356826024CNGA1,NIPAL1c.1322A>G (p.Lys441Arg)
c.1334A>G (p.Lys445Arg)
c.1541A>G (p.Lys514Arg)
n.479-21864T>C
n.563+22456T>C
c.1559A>G (p.Lys520Arg)
4g.47937160T>GCA356826025CNGA1,NIPAL1c.1322A>C (p.Lys441Thr)
c.1334A>C (p.Lys445Thr)
c.1541A>C (p.Lys514Thr)
n.479-21864T>G
n.563+22456T>G
c.1559A>C (p.Lys520Thr)
4g.47937161T>ACA356826027CNGA1,NIPAL1c.1321A>T (p.Lys441Ter)
c.1333A>T (p.Lys445Ter)
c.1540A>T (p.Lys514Ter)
n.479-21863T>A
n.563+22457T>A
c.1558A>T (p.Lys520Ter)
4g.47937161T>CCA356826028CNGA1,NIPAL1c.1321A>G (p.Lys441Glu)
c.1333A>G (p.Lys445Glu)
c.1540A>G (p.Lys514Glu)
n.479-21863T>C
n.563+22457T>C
c.1558A>G (p.Lys520Glu)
4g.47937161T>GCA356826029CNGA1,NIPAL1c.1321A>C (p.Lys441Gln)
c.1333A>C (p.Lys445Gln)
c.1540A>C (p.Lys514Gln)
n.479-21863T>G
n.563+22457T>G
c.1558A>C (p.Lys520Gln)
4g.47937162G>ACA96688776CNGA1,NIPAL1c.1320C>T (p.Asn440=)
c.1332C>T (p.Asn444=)
c.1539C>T (p.Asn513=)
n.479-21862G>A
n.563+22458G>A
c.1557C>T (p.Asn519=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47937162G>CCA356826030CNGA1,NIPAL1c.1320C>G (p.Asn440Lys)
c.1332C>G (p.Asn444Lys)
c.1539C>G (p.Asn513Lys)
n.479-21862G>C
n.563+22458G>C
c.1557C>G (p.Asn519Lys)
4g.47937162G=CA1455551860CNGA1,NIPAL1c.1320C= (p.Asn440=)
c.1332C= (p.Asn444=)
c.1539C= (p.Asn513=)
n.479-21862G=
n.563+22458G=
c.1557C= (p.Asn519=)
4g.47937162G>TCA356826031CNGA1,NIPAL1c.1320C>A (p.Asn440Lys)
c.1332C>A (p.Asn444Lys)
c.1539C>A (p.Asn513Lys)
n.479-21862G>T
n.563+22458G>T
c.1557C>A (p.Asn519Lys)
 gnomAD v4
4g.47937163T>ACA356826034CNGA1,NIPAL1c.1319A>T (p.Asn440Ile)
c.1331A>T (p.Asn444Ile)
c.1538A>T (p.Asn513Ile)
n.479-21861T>A
n.563+22459T>A
c.1556A>T (p.Asn519Ile)
4g.47937163T>CCA356826033CNGA1,NIPAL1c.1319A>G (p.Asn440Ser)
c.1331A>G (p.Asn444Ser)
c.1538A>G (p.Asn513Ser)
n.479-21861T>C
n.563+22459T>C
c.1556A>G (p.Asn519Ser)
4g.47937163T>GCA356826032CNGA1,NIPAL1c.1319A>C (p.Asn440Thr)
c.1331A>C (p.Asn444Thr)
c.1538A>C (p.Asn513Thr)
n.479-21861T>G
n.563+22459T>G
c.1556A>C (p.Asn519Thr)
4g.47937164T>ACA356826035CNGA1,NIPAL1c.1318A>T (p.Asn440Tyr)
c.1330A>T (p.Asn444Tyr)
c.1537A>T (p.Asn513Tyr)
n.479-21860T>A
n.563+22460T>A
c.1555A>T (p.Asn519Tyr)
4g.47937164T>CCA356826036CNGA1,NIPAL1c.1318A>G (p.Asn440Asp)
c.1330A>G (p.Asn444Asp)
c.1537A>G (p.Asn513Asp)
n.479-21860T>C
n.563+22460T>C
c.1555A>G (p.Asn519Asp)
4g.47937164T>GCA356826037CNGA1,NIPAL1c.1318A>C (p.Asn440His)
c.1330A>C (p.Asn444His)
c.1537A>C (p.Asn513His)
n.479-21860T>G
n.563+22460T>G
c.1555A>C (p.Asn519His)
4g.47937165G>ACA439404064CNGA1,NIPAL1c.1317C>T (p.Thr439=)
c.1329C>T (p.Thr443=)
c.1536C>T (p.Thr512=)
n.479-21859G>A
n.563+22461G>A
c.1554C>T (p.Thr518=)
 ClinVar
4g.47937165G>CCA439404066CNGA1,NIPAL1c.1317C>G (p.Thr439=)
c.1329C>G (p.Thr443=)
c.1536C>G (p.Thr512=)
n.479-21859G>C
n.563+22461G>C
c.1554C>G (p.Thr518=)
4g.47937165G>TCA439404068CNGA1,NIPAL1c.1317C>A (p.Thr439=)
c.1329C>A (p.Thr443=)
c.1536C>A (p.Thr512=)
n.479-21859G>T
n.563+22461G>T
c.1554C>A (p.Thr518=)
4g.47937166G>ACA356826038CNGA1,NIPAL1c.1316C>T (p.Thr439Ile)
c.1328C>T (p.Thr443Ile)
c.1535C>T (p.Thr512Ile)
n.479-21858G>A
n.563+22462G>A
c.1553C>T (p.Thr518Ile)
4g.47937166G>CCA356826039CNGA1,NIPAL1c.1316C>G (p.Thr439Ser)
c.1328C>G (p.Thr443Ser)
c.1535C>G (p.Thr512Ser)
n.479-21858G>C
n.563+22462G>C
c.1553C>G (p.Thr518Ser)
4g.47937166G>TCA356826040CNGA1,NIPAL1c.1316C>A (p.Thr439Asn)
c.1328C>A (p.Thr443Asn)
c.1535C>A (p.Thr512Asn)
n.479-21858G>T
n.563+22462G>T
c.1553C>A (p.Thr518Asn)
4g.47937167T>ACA356826041CNGA1,NIPAL1c.1315A>T (p.Thr439Ser)
c.1327A>T (p.Thr443Ser)
c.1534A>T (p.Thr512Ser)
n.479-21857T>A
n.563+22463T>A
c.1552A>T (p.Thr518Ser)
4g.47937167T>CCA356826043CNGA1,NIPAL1c.1315A>G (p.Thr439Ala)
c.1327A>G (p.Thr443Ala)
c.1534A>G (p.Thr512Ala)
n.479-21857T>C
n.563+22463T>C
c.1552A>G (p.Thr518Ala)
4g.47937167T>GCA356826042CNGA1,NIPAL1c.1315A>C (p.Thr439Pro)
c.1327A>C (p.Thr443Pro)
c.1534A>C (p.Thr512Pro)
n.479-21857T>G
n.563+22463T>G
c.1552A>C (p.Thr518Pro)
4g.47937168C>ACA356826044CNGA1,NIPAL1c.1314G>T (p.Trp438Cys)
c.1326G>T (p.Trp442Cys)
c.1533G>T (p.Trp511Cys)
n.479-21856C>A
n.563+22464C>A
c.1551G>T (p.Trp517Cys)
4g.47937168C>GCA356826045CNGA1,NIPAL1c.1314G>C (p.Trp438Cys)
c.1326G>C (p.Trp442Cys)
c.1533G>C (p.Trp511Cys)
n.479-21856C>G
n.563+22464C>G
c.1551G>C (p.Trp517Cys)
4g.47937168C>TCA356826046CNGA1,NIPAL1c.1314G>A (p.Trp438Ter)
c.1326G>A (p.Trp442Ter)
c.1533G>A (p.Trp511Ter)
n.479-21856C>T
n.563+22464C>T
c.1551G>A (p.Trp517Ter)
4g.47937169C>ACA356826047CNGA1,NIPAL1c.1313G>T (p.Trp438Leu)
c.1325G>T (p.Trp442Leu)
c.1532G>T (p.Trp511Leu)
n.479-21855C>A
n.563+22465C>A
c.1550G>T (p.Trp517Leu)
4g.47937169C=CA1455551861CNGA1,NIPAL1c.1313G= (p.Trp438=)
c.1325G= (p.Trp442=)
c.1532G= (p.Trp511=)
n.479-21855C=
n.563+22465C=
c.1550G= (p.Trp517=)
4g.47937169C>GCA356826048CNGA1,NIPAL1c.1313G>C (p.Trp438Ser)
c.1325G>C (p.Trp442Ser)
c.1532G>C (p.Trp511Ser)
n.479-21855C>G
n.563+22465C>G
c.1550G>C (p.Trp517Ser)
4g.47937169C>TCA356826049CNGA1,NIPAL1c.1313G>A (p.Trp438Ter)
c.1325G>A (p.Trp442Ter)
c.1532G>A (p.Trp511Ter)
n.479-21855C>T
n.563+22465C>T
c.1550G>A (p.Trp517Ter)
 dbSNP
4g.47937170A=CA1455551862CNGA1,NIPAL1c.1312T= (p.Trp438=)
c.1324T= (p.Trp442=)
c.1531T= (p.Trp511=)
n.479-21854A=
n.563+22466A=
c.1549T= (p.Trp517=)
4g.47937170A>CCA2911098CNGA1,NIPAL1c.1312T>G (p.Trp438Gly)
c.1324T>G (p.Trp442Gly)
c.1531T>G (p.Trp511Gly)
n.479-21854A>C
n.563+22466A>C
c.1549T>G (p.Trp517Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937170A>GCA356826050CNGA1,NIPAL1c.1312T>C (p.Trp438Arg)
c.1324T>C (p.Trp442Arg)
c.1531T>C (p.Trp511Arg)
n.479-21854A>G
n.563+22466A>G
c.1549T>C (p.Trp517Arg)
 COSMIC
4g.47937170A>TCA356826051CNGA1,NIPAL1c.1312T>A (p.Trp438Arg)
c.1324T>A (p.Trp442Arg)
c.1531T>A (p.Trp511Arg)
n.479-21854A>T
n.563+22466A>T
c.1549T>A (p.Trp517Arg)
4g.47937171C>ACA439404079CNGA1,NIPAL1c.1311G>T (p.Leu437=)
c.1323G>T (p.Leu441=)
c.1530G>T (p.Leu510=)
n.479-21853C>A
n.563+22467C>A
c.1548G>T (p.Leu516=)
4g.47937171C=CA1455551863CNGA1,NIPAL1c.1311G= (p.Leu437=)
c.1323G= (p.Leu441=)
c.1530G= (p.Leu510=)
n.479-21853C=
n.563+22467C=
c.1548G= (p.Leu516=)
4g.47937171C>GCA439404081CNGA1,NIPAL1c.1311G>C (p.Leu437=)
c.1323G>C (p.Leu441=)
c.1530G>C (p.Leu510=)
n.479-21853C>G
n.563+22467C>G
c.1548G>C (p.Leu516=)
4g.47937171C>TCA96688804CNGA1,NIPAL1c.1311G>A (p.Leu437=)
c.1323G>A (p.Leu441=)
c.1530G>A (p.Leu510=)
n.479-21853C>T
n.563+22467C>T
c.1548G>A (p.Leu516=)
 dbSNP
4g.47937172A>CCA356826052CNGA1,NIPAL1c.1310T>G (p.Leu437Arg)
c.1322T>G (p.Leu441Arg)
c.1529T>G (p.Leu510Arg)
n.479-21852A>C
n.563+22468A>C
c.1547T>G (p.Leu516Arg)
4g.47937172A>GCA356826053CNGA1,NIPAL1c.1310T>C (p.Leu437Pro)
c.1322T>C (p.Leu441Pro)
c.1529T>C (p.Leu510Pro)
n.479-21852A>G
n.563+22468A>G
c.1547T>C (p.Leu516Pro)
 gnomAD v4
4g.47937172A>TCA356826054CNGA1,NIPAL1c.1310T>A (p.Leu437Gln)
c.1322T>A (p.Leu441Gln)
c.1529T>A (p.Leu510Gln)
n.479-21852A>T
n.563+22468A>T
c.1547T>A (p.Leu516Gln)
4g.47937173G>ACA2911100CNGA1,NIPAL1c.1309C>T (p.Leu437=)
c.1321C>T (p.Leu441=)
c.1528C>T (p.Leu510=)
n.479-21851G>A
n.563+22469G>A
c.1546C>T (p.Leu516=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937173G>CCA2911099CNGA1,NIPAL1c.1309C>G (p.Leu437Val)
c.1321C>G (p.Leu441Val)
c.1528C>G (p.Leu510Val)
n.479-21851G>C
n.563+22469G>C
c.1546C>G (p.Leu516Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937173G=CA1455551864CNGA1,NIPAL1c.1309C= (p.Leu437=)
c.1321C= (p.Leu441=)
c.1528C= (p.Leu510=)
n.479-21851G=
n.563+22469G=
c.1546C= (p.Leu516=)
4g.47937173G>TCA356826055CNGA1,NIPAL1c.1309C>A (p.Leu437Met)
c.1321C>A (p.Leu441Met)
c.1528C>A (p.Leu510Met)
n.479-21851G>T
n.563+22469G>T
c.1546C>A (p.Leu516Met)
4g.47937174G>ACA439404085CNGA1,NIPAL1c.1308C>T (p.Tyr436=)
c.1320C>T (p.Tyr440=)
c.1527C>T (p.Tyr509=)
n.479-21850G>A
n.563+22470G>A
c.1545C>T (p.Tyr515=)
4g.47937174G>CCA356826056CNGA1,NIPAL1c.1308C>G (p.Tyr436Ter)
c.1320C>G (p.Tyr440Ter)
c.1527C>G (p.Tyr509Ter)
n.479-21850G>C
n.563+22470G>C
c.1545C>G (p.Tyr515Ter)
4g.47937174G>TCA356826058CNGA1,NIPAL1c.1308C>A (p.Tyr436Ter)
c.1320C>A (p.Tyr440Ter)
c.1527C>A (p.Tyr509Ter)
n.479-21850G>T
n.563+22470G>T
c.1545C>A (p.Tyr515Ter)
 gnomAD v4
4g.47937175T>ACA356826061CNGA1,NIPAL1c.1307A>T (p.Tyr436Phe)
c.1319A>T (p.Tyr440Phe)
c.1526A>T (p.Tyr509Phe)
n.479-21849T>A
n.563+22471T>A
c.1544A>T (p.Tyr515Phe)
4g.47937175T>CCA356826062CNGA1,NIPAL1c.1307A>G (p.Tyr436Cys)
c.1319A>G (p.Tyr440Cys)
c.1526A>G (p.Tyr509Cys)
n.479-21849T>C
n.563+22471T>C
c.1544A>G (p.Tyr515Cys)
4g.47937175T>GCA356826064CNGA1,NIPAL1c.1307A>C (p.Tyr436Ser)
c.1319A>C (p.Tyr440Ser)
c.1526A>C (p.Tyr509Ser)
n.479-21849T>G
n.563+22471T>G
c.1544A>C (p.Tyr515Ser)
4g.47937176A=CA1455551865CNGA1,NIPAL1c.1306T= (p.Tyr436=)
c.1318T= (p.Tyr440=)
c.1525T= (p.Tyr509=)
n.479-21848A=
n.563+22472A=
c.1543T= (p.Tyr515=)
4g.47937176A>CCA356826069CNGA1,NIPAL1c.1306T>G (p.Tyr436Asp)
c.1318T>G (p.Tyr440Asp)
c.1525T>G (p.Tyr509Asp)
n.479-21848A>C
n.563+22472A>C
c.1543T>G (p.Tyr515Asp)
4g.47937176A>GCA356826066CNGA1,NIPAL1c.1306T>C (p.Tyr436His)
c.1318T>C (p.Tyr440His)
c.1525T>C (p.Tyr509His)
n.479-21848A>G
n.563+22472A>G
c.1543T>C (p.Tyr515His)
4g.47937176A>TCA356826068CNGA1,NIPAL1c.1306T>A (p.Tyr436Asn)
c.1318T>A (p.Tyr440Asn)
c.1525T>A (p.Tyr509Asn)
n.479-21848A>T
n.563+22472A>T
c.1543T>A (p.Tyr515Asn)
 dbSNP gnomAD v3 gnomAD v4
4g.47937177G>ACA439404090CNGA1,NIPAL1c.1305C>T (p.Asp435=)
c.1317C>T (p.Asp439=)
c.1524C>T (p.Asp508=)
n.479-21847G>A
n.563+22473G>A
c.1542C>T (p.Asp514=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47937177G>CCA356826071CNGA1,NIPAL1c.1305C>G (p.Asp435Glu)
c.1317C>G (p.Asp439Glu)
c.1524C>G (p.Asp508Glu)
n.479-21847G>C
n.563+22473G>C
c.1542C>G (p.Asp514Glu)
 gnomAD v4
4g.47937177G=CA1455551866CNGA1,NIPAL1c.1305C= (p.Asp435=)
c.1317C= (p.Asp439=)
c.1524C= (p.Asp508=)
n.479-21847G=
n.563+22473G=
c.1542C= (p.Asp514=)
4g.47937177G>TCA356826072CNGA1,NIPAL1c.1305C>A (p.Asp435Glu)
c.1317C>A (p.Asp439Glu)
c.1524C>A (p.Asp508Glu)
n.479-21847G>T
n.563+22473G>T
c.1542C>A (p.Asp514Glu)
4g.47937177_47937179delCA2761332298CNGA1,NIPAL1c.1303_1305del (p.Asp435del)
c.1315_1317del (p.Asp439del)
c.1522_1524del (p.Asp508del)
n.479-21847_479-21845del
n.563+22473_563+22475del
c.1540_1542del (p.Asp514del)
4g.47937178T>ACA356826075CNGA1,NIPAL1c.1304A>T (p.Asp435Val)
c.1316A>T (p.Asp439Val)
c.1523A>T (p.Asp508Val)
n.479-21846T>A
n.563+22474T>A
c.1541A>T (p.Asp514Val)
4g.47937178T>CCA356826077CNGA1,NIPAL1c.1304A>G (p.Asp435Gly)
c.1316A>G (p.Asp439Gly)
c.1523A>G (p.Asp508Gly)
n.479-21846T>C
n.563+22474T>C
c.1541A>G (p.Asp514Gly)
 dbSNP
4g.47937178T>GCA356826078CNGA1,NIPAL1c.1304A>C (p.Asp435Ala)
c.1316A>C (p.Asp439Ala)
c.1523A>C (p.Asp508Ala)
n.479-21846T>G
n.563+22474T>G
c.1541A>C (p.Asp514Ala)
4g.47937178T=CA1455551867CNGA1,NIPAL1c.1304A= (p.Asp435=)
c.1316A= (p.Asp439=)
c.1523A= (p.Asp508=)
n.479-21846T=
n.563+22474T=
c.1541A= (p.Asp514=)
4g.47937179C>ACA356826084CNGA1,NIPAL1c.1303G>T (p.Asp435Tyr)
c.1315G>T (p.Asp439Tyr)
c.1522G>T (p.Asp508Tyr)
n.479-21845C>A
n.563+22475C>A
c.1540G>T (p.Asp514Tyr)
4g.47937179C=CA1455551868CNGA1,NIPAL1c.1303G= (p.Asp435=)
c.1315G= (p.Asp439=)
c.1522G= (p.Asp508=)
n.479-21845C=
n.563+22475C=
c.1540G= (p.Asp514=)
4g.47937179C>GCA356826081CNGA1,NIPAL1c.1303G>C (p.Asp435His)
c.1315G>C (p.Asp439His)
c.1522G>C (p.Asp508His)
n.479-21845C>G
n.563+22475C>G
c.1540G>C (p.Asp514His)
4g.47937179C>TCA356826083CNGA1,NIPAL1c.1303G>A (p.Asp435Asn)
c.1315G>A (p.Asp439Asn)
c.1522G>A (p.Asp508Asn)
n.479-21845C>T
n.563+22475C>T
c.1540G>A (p.Asp514Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.47937180A>CCA356826087CNGA1,NIPAL1c.1302T>G (p.Phe434Leu)
c.1314T>G (p.Phe438Leu)
c.1521T>G (p.Phe507Leu)
n.479-21844A>C
n.563+22476A>C
c.1539T>G (p.Phe513Leu)
4g.47937180A>GCA439404093CNGA1,NIPAL1c.1302T>C (p.Phe434=)
c.1314T>C (p.Phe438=)
c.1521T>C (p.Phe507=)
n.479-21844A>G
n.563+22476A>G
c.1539T>C (p.Phe513=)
4g.47937180A>TCA356826089CNGA1,NIPAL1c.1302T>A (p.Phe434Leu)
c.1314T>A (p.Phe438Leu)
c.1521T>A (p.Phe507Leu)
n.479-21844A>T
n.563+22476A>T
c.1539T>A (p.Phe513Leu)
4g.47937181A>CCA356826091CNGA1,NIPAL1c.1301T>G (p.Phe434Cys)
c.1313T>G (p.Phe438Cys)
c.1520T>G (p.Phe507Cys)
n.479-21843A>C
n.563+22477A>C
c.1538T>G (p.Phe513Cys)
4g.47937181A>GCA356826093CNGA1,NIPAL1c.1301T>C (p.Phe434Ser)
c.1313T>C (p.Phe438Ser)
c.1520T>C (p.Phe507Ser)
n.479-21843A>G
n.563+22477A>G
c.1538T>C (p.Phe513Ser)
4g.47937181A>TCA356826094CNGA1,NIPAL1c.1301T>A (p.Phe434Tyr)
c.1313T>A (p.Phe438Tyr)
c.1520T>A (p.Phe507Tyr)
n.479-21843A>T
n.563+22477A>T
c.1538T>A (p.Phe513Tyr)
4g.47937181_47937183delCA2761332299CNGA1,NIPAL1c.1299_1301del (p.Trp433_Phe434delinsCys)
c.1311_1313del (p.Trp437_Phe438delinsCys)
c.1518_1520del (p.Trp506_Phe507delinsCys)
n.479-21843_479-21841del
n.563+22477_563+22479del
c.1536_1538del (p.Trp512_Phe513delinsCys)
4g.47937182A>CCA356826096CNGA1,NIPAL1c.1300T>G (p.Phe434Val)
c.1312T>G (p.Phe438Val)
c.1519T>G (p.Phe507Val)
n.479-21842A>C
n.563+22478A>C
c.1537T>G (p.Phe513Val)
4g.47937182A>GCA356826098CNGA1,NIPAL1c.1300T>C (p.Phe434Leu)
c.1312T>C (p.Phe438Leu)
c.1519T>C (p.Phe507Leu)
n.479-21842A>G
n.563+22478A>G
c.1537T>C (p.Phe513Leu)
4g.47937182A>TCA356826100CNGA1,NIPAL1c.1300T>A (p.Phe434Ile)
c.1312T>A (p.Phe438Ile)
c.1519T>A (p.Phe507Ile)
n.479-21842A>T
n.563+22478A>T
c.1537T>A (p.Phe513Ile)
4g.47937183C>ACA356826102CNGA1,NIPAL1c.1299G>T (p.Trp433Cys)
c.1311G>T (p.Trp437Cys)
c.1518G>T (p.Trp506Cys)
n.479-21841C>A
n.563+22479C>A
c.1536G>T (p.Trp512Cys)
4g.47937183C>GCA356826104CNGA1,NIPAL1c.1299G>C (p.Trp433Cys)
c.1311G>C (p.Trp437Cys)
c.1518G>C (p.Trp506Cys)
n.479-21841C>G
n.563+22479C>G
c.1536G>C (p.Trp512Cys)
4g.47937183C>TCA356826106CNGA1,NIPAL1c.1299G>A (p.Trp433Ter)
c.1311G>A (p.Trp437Ter)
c.1518G>A (p.Trp506Ter)
n.479-21841C>T
n.563+22479C>T
c.1536G>A (p.Trp512Ter)
4g.47937184dupCA2670552351CNGA1,NIPAL1c.1299dup (p.Phe434ValfsTer2)
c.1311dup (p.Phe438ValfsTer2)
c.1518dup (p.Phe507ValfsTer2)
n.479-21840dup
n.563+22480dup
c.1536dup (p.Phe513ValfsTer2)
 gnomAD v4
4g.47937184C>ACA2911101CNGA1,NIPAL1c.1298G>T (p.Trp433Leu)
c.1310G>T (p.Trp437Leu)
c.1517G>T (p.Trp506Leu)
n.479-21840C>A
n.563+22480C>A
c.1535G>T (p.Trp512Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937184C=CA1455551869CNGA1,NIPAL1c.1298G= (p.Trp433=)
c.1310G= (p.Trp437=)
c.1517G= (p.Trp506=)
n.479-21840C=
n.563+22480C=
c.1535G= (p.Trp512=)
4g.47937184C>GCA356826109CNGA1,NIPAL1c.1298G>C (p.Trp433Ser)
c.1310G>C (p.Trp437Ser)
c.1517G>C (p.Trp506Ser)
n.479-21840C>G
n.563+22480C>G
c.1535G>C (p.Trp512Ser)
4g.47937184C>TCA2911102CNGA1,NIPAL1c.1298G>A (p.Trp433Ter)
c.1310G>A (p.Trp437Ter)
c.1517G>A (p.Trp506Ter)
n.479-21840C>T
n.563+22480C>T
c.1535G>A (p.Trp512Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937185A>CCA356826116CNGA1,NIPAL1c.1297T>G (p.Trp433Gly)
c.1309T>G (p.Trp437Gly)
c.1516T>G (p.Trp506Gly)
n.479-21839A>C
n.563+22481A>C
c.1534T>G (p.Trp512Gly)
4g.47937185A>GCA356826113CNGA1,NIPAL1c.1297T>C (p.Trp433Arg)
c.1309T>C (p.Trp437Arg)
c.1516T>C (p.Trp506Arg)
n.479-21839A>G
n.563+22481A>G
c.1534T>C (p.Trp512Arg)
4g.47937185A>TCA356826114CNGA1,NIPAL1c.1297T>A (p.Trp433Arg)
c.1309T>A (p.Trp437Arg)
c.1516T>A (p.Trp506Arg)
n.479-21839A>T
n.563+22481A>T
c.1534T>A (p.Trp512Arg)
4g.47937186T>ACA356826119CNGA1,NIPAL1c.1296A>T (p.Lys432Asn)
c.1308A>T (p.Lys436Asn)
c.1515A>T (p.Lys505Asn)
n.479-21838T>A
n.563+22482T>A
c.1533A>T (p.Lys511Asn)
4g.47937186T>CCA439404100CNGA1,NIPAL1c.1296A>G (p.Lys432=)
c.1308A>G (p.Lys436=)
c.1515A>G (p.Lys505=)
n.479-21838T>C
n.563+22482T>C
c.1533A>G (p.Lys511=)
4g.47937186T>GCA356826120CNGA1,NIPAL1c.1296A>C (p.Lys432Asn)
c.1308A>C (p.Lys436Asn)
c.1515A>C (p.Lys505Asn)
n.479-21838T>G
n.563+22482T>G
c.1533A>C (p.Lys511Asn)

Number of alleles fetched