Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
4g.47937187T>ACA356826123CNGA1,NIPAL1c.1295A>T (p.Lys432Ile)
c.1307A>T (p.Lys436Ile)
c.1514A>T (p.Lys505Ile)
n.479-21837T>A
n.563+22483T>A
c.1532A>T (p.Lys511Ile)
4g.47937187T>CCA356826124CNGA1,NIPAL1c.1295A>G (p.Lys432Arg)
c.1307A>G (p.Lys436Arg)
c.1514A>G (p.Lys505Arg)
n.479-21837T>C
n.563+22483T>C
c.1532A>G (p.Lys511Arg)
4g.47937187T>GCA356826127CNGA1,NIPAL1c.1295A>C (p.Lys432Thr)
c.1307A>C (p.Lys436Thr)
c.1514A>C (p.Lys505Thr)
n.479-21837T>G
n.563+22483T>G
c.1532A>C (p.Lys511Thr)
4g.47937188T>ACA356826129CNGA1,NIPAL1c.1294A>T (p.Lys432Ter)
c.1306A>T (p.Lys436Ter)
c.1513A>T (p.Lys505Ter)
n.479-21836T>A
n.563+22484T>A
c.1531A>T (p.Lys511Ter)
4g.47937188T>CCA356826131CNGA1,NIPAL1c.1294A>G (p.Lys432Glu)
c.1306A>G (p.Lys436Glu)
c.1513A>G (p.Lys505Glu)
n.479-21836T>C
n.563+22484T>C
c.1531A>G (p.Lys511Glu)
4g.47937188T>GCA356826133CNGA1,NIPAL1c.1294A>C (p.Lys432Gln)
c.1306A>C (p.Lys436Gln)
c.1513A>C (p.Lys505Gln)
n.479-21836T>G
n.563+22484T>G
c.1531A>C (p.Lys511Gln)
4g.47937191_47937193dupCA2670552352CNGA1,NIPAL1c.1292_1294dup (p.Ile431_Lys432insIle)
c.1304_1306dup (p.Ile435_Lys436insIle)
c.1511_1513dup (p.Ile504_Lys505insIle)
n.479-21833_479-21831dup
n.563+22487_563+22489dup
c.1529_1531dup (p.Ile510_Lys511insIle)
 gnomAD v4
4g.47937189A>CCA356826135CNGA1,NIPAL1c.1293T>G (p.Ile431Met)
c.1305T>G (p.Ile435Met)
c.1512T>G (p.Ile504Met)
n.479-21835A>C
n.563+22485A>C
c.1530T>G (p.Ile510Met)
4g.47937189A>GCA439404105CNGA1,NIPAL1c.1293T>C (p.Ile431=)
c.1305T>C (p.Ile435=)
c.1512T>C (p.Ile504=)
n.479-21835A>G
n.563+22485A>G
c.1530T>C (p.Ile510=)
4g.47937189A>TCA439404107CNGA1,NIPAL1c.1293T>A (p.Ile431=)
c.1305T>A (p.Ile435=)
c.1512T>A (p.Ile504=)
n.479-21835A>T
n.563+22485A>T
c.1530T>A (p.Ile510=)
4g.47937190A>CCA356826136CNGA1,NIPAL1c.1292T>G (p.Ile431Ser)
c.1304T>G (p.Ile435Ser)
c.1511T>G (p.Ile504Ser)
n.479-21834A>C
n.563+22486A>C
c.1529T>G (p.Ile510Ser)
4g.47937190A>GCA356826138CNGA1,NIPAL1c.1292T>C (p.Ile431Thr)
c.1304T>C (p.Ile435Thr)
c.1511T>C (p.Ile504Thr)
n.479-21834A>G
n.563+22486A>G
c.1529T>C (p.Ile510Thr)
4g.47937190A>TCA356826140CNGA1,NIPAL1c.1292T>A (p.Ile431Asn)
c.1304T>A (p.Ile435Asn)
c.1511T>A (p.Ile504Asn)
n.479-21834A>T
n.563+22486A>T
c.1529T>A (p.Ile510Asn)
4g.47937190_47937209delinsATAACCCTCTTTTCCATATCCA1455551870CNGA1,NIPAL1c.1273_1292delinsGATATGGAAAAGAGGGTTAT (p.Asp425=)
c.1285_1304delinsGATATGGAAAAGAGGGTTAT (p.Asp429=)
c.1492_1511delinsGATATGGAAAAGAGGGTTAT (p.Asp498=)
n.479-21834_479-21815delinsATAACCCTCTTTTCCATATC
n.563+22486_563+22505delinsATAACCCTCTTTTCCATATC
c.1510_1529delinsGATATGGAAAAGAGGGTTAT (p.Asp504=)
4g.47937191T>ACA356826146CNGA1,NIPAL1c.1291A>T (p.Ile431Phe)
c.1303A>T (p.Ile435Phe)
c.1510A>T (p.Ile504Phe)
n.479-21833T>A
n.563+22487T>A
c.1528A>T (p.Ile510Phe)
4g.47937191T>CCA356826144CNGA1,NIPAL1c.1291A>G (p.Ile431Val)
c.1303A>G (p.Ile435Val)
c.1510A>G (p.Ile504Val)
n.479-21833T>C
n.563+22487T>C
c.1528A>G (p.Ile510Val)
4g.47937191T>GCA356826142CNGA1,NIPAL1c.1291A>C (p.Ile431Leu)
c.1303A>C (p.Ile435Leu)
c.1510A>C (p.Ile504Leu)
n.479-21833T>G
n.563+22487T>G
c.1528A>C (p.Ile510Leu)
4g.47937192_47937210delCA1455551871CNGA1,NIPAL1c.1273_1291del (p.Asp425LeufsTer20)
c.1285_1303del (p.Asp429LeufsTer20)
c.1492_1510del (p.Asp498LeufsTer20)
n.479-21832_479-21814del
n.563+22488_563+22506del
c.1510_1528del (p.Asp504LeufsTer20)
 dbSNP
4g.47937192A>CCA439404114CNGA1,NIPAL1c.1290T>G (p.Val430=)
c.1302T>G (p.Val434=)
c.1509T>G (p.Val503=)
n.479-21832A>C
n.563+22488A>C
c.1527T>G (p.Val509=)
4g.47937192A>GCA439404110CNGA1,NIPAL1c.1290T>C (p.Val430=)
c.1302T>C (p.Val434=)
c.1509T>C (p.Val503=)
n.479-21832A>G
n.563+22488A>G
c.1527T>C (p.Val509=)
4g.47937192A>TCA439404112CNGA1,NIPAL1c.1290T>A (p.Val430=)
c.1302T>A (p.Val434=)
c.1509T>A (p.Val503=)
n.479-21832A>T
n.563+22488A>T
c.1527T>A (p.Val509=)
4g.47937193A>CCA356826153CNGA1,NIPAL1c.1289T>G (p.Val430Gly)
c.1301T>G (p.Val434Gly)
c.1508T>G (p.Val503Gly)
n.479-21831A>C
n.563+22489A>C
c.1526T>G (p.Val509Gly)
4g.47937193A>GCA356826149CNGA1,NIPAL1c.1289T>C (p.Val430Ala)
c.1301T>C (p.Val434Ala)
c.1508T>C (p.Val503Ala)
n.479-21831A>G
n.563+22489A>G
c.1526T>C (p.Val509Ala)
4g.47937193A>TCA356826151CNGA1,NIPAL1c.1289T>A (p.Val430Asp)
c.1301T>A (p.Val434Asp)
c.1508T>A (p.Val503Asp)
n.479-21831A>T
n.563+22489A>T
c.1526T>A (p.Val509Asp)
4g.47937194C>ACA356826155CNGA1,NIPAL1c.1288G>T (p.Val430Phe)
c.1300G>T (p.Val434Phe)
c.1507G>T (p.Val503Phe)
n.479-21830C>A
n.563+22490C>A
c.1525G>T (p.Val509Phe)
 dbSNP gnomAD v2 gnomAD v4
4g.47937194C=CA1455551872CNGA1,NIPAL1c.1288G= (p.Val430=)
c.1300G= (p.Val434=)
c.1507G= (p.Val503=)
n.479-21830C=
n.563+22490C=
c.1525G= (p.Val509=)
4g.47937194C>GCA356826156CNGA1,NIPAL1c.1288G>C (p.Val430Leu)
c.1300G>C (p.Val434Leu)
c.1507G>C (p.Val503Leu)
n.479-21830C>G
n.563+22490C>G
c.1525G>C (p.Val509Leu)
4g.47937194C>TCA96688817CNGA1,NIPAL1c.1288G>A (p.Val430Ile)
c.1300G>A (p.Val434Ile)
c.1507G>A (p.Val503Ile)
n.479-21830C>T
n.563+22490C>T
c.1525G>A (p.Val509Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47937195C>ACA356826159CNGA1,NIPAL1c.1287G>T (p.Arg429Ser)
c.1299G>T (p.Arg433Ser)
c.1506G>T (p.Arg502Ser)
n.479-21829C>A
n.563+22491C>A
c.1524G>T (p.Arg508Ser)
4g.47937195C=CA1455551873CNGA1,NIPAL1c.1287G= (p.Arg429=)
c.1299G= (p.Arg433=)
c.1506G= (p.Arg502=)
n.479-21829C=
n.563+22491C=
c.1524G= (p.Arg508=)
4g.47937195C>GCA356826161CNGA1,NIPAL1c.1287G>C (p.Arg429Ser)
c.1299G>C (p.Arg433Ser)
c.1506G>C (p.Arg502Ser)
n.479-21829C>G
n.563+22491C>G
c.1524G>C (p.Arg508Ser)
 ClinVar dbSNP gnomAD v4
4g.47937195C>TCA439404120CNGA1,NIPAL1c.1287G>A (p.Arg429=)
c.1299G>A (p.Arg433=)
c.1506G>A (p.Arg502=)
n.479-21829C>T
n.563+22491C>T
c.1524G>A (p.Arg508=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47937196C>ACA96688828CNGA1,NIPAL1c.1286G>T (p.Arg429Met)
c.1298G>T (p.Arg433Met)
c.1505G>T (p.Arg502Met)
n.479-21828C>A
n.563+22492C>A
c.1523G>T (p.Arg508Met)
 dbSNP
4g.47937196C=CA1455551874CNGA1,NIPAL1c.1286G= (p.Arg429=)
c.1298G= (p.Arg433=)
c.1505G= (p.Arg502=)
n.479-21828C=
n.563+22492C=
c.1523G= (p.Arg508=)
4g.47937196C>GCA356826163CNGA1,NIPAL1c.1286G>C (p.Arg429Thr)
c.1298G>C (p.Arg433Thr)
c.1505G>C (p.Arg502Thr)
n.479-21828C>G
n.563+22492C>G
c.1523G>C (p.Arg508Thr)
 dbSNP
4g.47937196C>TCA2911103CNGA1,NIPAL1c.1286G>A (p.Arg429Lys)
c.1298G>A (p.Arg433Lys)
c.1505G>A (p.Arg502Lys)
n.479-21828C>T
n.563+22492C>T
c.1523G>A (p.Arg508Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937197T>ACA356826165CNGA1,NIPAL1c.1285A>T (p.Arg429Trp)
c.1297A>T (p.Arg433Trp)
c.1504A>T (p.Arg502Trp)
n.479-21827T>A
n.563+22493T>A
c.1522A>T (p.Arg508Trp)
 ClinVar
4g.47937197T>CCA356826167CNGA1,NIPAL1c.1285A>G (p.Arg429Gly)
c.1297A>G (p.Arg433Gly)
c.1504A>G (p.Arg502Gly)
n.479-21827T>C
n.563+22493T>C
c.1522A>G (p.Arg508Gly)
4g.47937197T>GCA439404122CNGA1,NIPAL1c.1285A>C (p.Arg429=)
c.1297A>C (p.Arg433=)
c.1504A>C (p.Arg502=)
n.479-21827T>G
n.563+22493T>G
c.1522A>C (p.Arg508=)
4g.47937198C>ACA356826169CNGA1,NIPAL1c.1284G>T (p.Lys428Asn)
c.1296G>T (p.Lys432Asn)
c.1503G>T (p.Lys501Asn)
n.479-21826C>A
n.563+22494C>A
c.1521G>T (p.Lys507Asn)
 COSMIC
4g.47937198C>GCA356826171CNGA1,NIPAL1c.1284G>C (p.Lys428Asn)
c.1296G>C (p.Lys432Asn)
c.1503G>C (p.Lys501Asn)
n.479-21826C>G
n.563+22494C>G
c.1521G>C (p.Lys507Asn)
4g.47937198C>TCA439404123CNGA1,NIPAL1c.1284G>A (p.Lys428=)
c.1296G>A (p.Lys432=)
c.1503G>A (p.Lys501=)
n.479-21826C>T
n.563+22494C>T
c.1521G>A (p.Lys507=)
 COSMIC
4g.47937199T>ACA356826172CNGA1,NIPAL1c.1283A>T (p.Lys428Met)
c.1295A>T (p.Lys432Met)
c.1502A>T (p.Lys501Met)
n.479-21825T>A
n.563+22495T>A
c.1520A>T (p.Lys507Met)
4g.47937199T>CCA356826176CNGA1,NIPAL1c.1283A>G (p.Lys428Arg)
c.1295A>G (p.Lys432Arg)
c.1502A>G (p.Lys501Arg)
n.479-21825T>C
n.563+22495T>C
c.1520A>G (p.Lys507Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.47937199T>GCA356826174CNGA1,NIPAL1c.1283A>C (p.Lys428Thr)
c.1295A>C (p.Lys432Thr)
c.1502A>C (p.Lys501Thr)
n.479-21825T>G
n.563+22495T>G
c.1520A>C (p.Lys507Thr)
4g.47937199T=CA1455551875CNGA1,NIPAL1c.1283A= (p.Lys428=)
c.1295A= (p.Lys432=)
c.1502A= (p.Lys501=)
n.479-21825T=
n.563+22495T=
c.1520A= (p.Lys507=)
4g.47937200T>ACA356826178CNGA1,NIPAL1c.1282A>T (p.Lys428Ter)
c.1294A>T (p.Lys432Ter)
c.1501A>T (p.Lys501Ter)
n.479-21824T>A
n.563+22496T>A
c.1519A>T (p.Lys507Ter)
4g.47937200T>CCA356826180CNGA1,NIPAL1c.1282A>G (p.Lys428Glu)
c.1294A>G (p.Lys432Glu)
c.1501A>G (p.Lys501Glu)
n.479-21824T>C
n.563+22496T>C
c.1519A>G (p.Lys507Glu)
4g.47937200T>GCA356826182CNGA1,NIPAL1c.1282A>C (p.Lys428Gln)
c.1294A>C (p.Lys432Gln)
c.1501A>C (p.Lys501Gln)
n.479-21824T>G
n.563+22496T>G
c.1519A>C (p.Lys507Gln)
4g.47937201T>ACA356826185CNGA1,NIPAL1c.1281A>T (p.Glu427Asp)
c.1293A>T (p.Glu431Asp)
c.1500A>T (p.Glu500Asp)
n.479-21823T>A
n.563+22497T>A
c.1518A>T (p.Glu506Asp)
4g.47937201T>CCA439404126CNGA1,NIPAL1c.1281A>G (p.Glu427=)
c.1293A>G (p.Glu431=)
c.1500A>G (p.Glu500=)
n.479-21823T>C
n.563+22497T>C
c.1518A>G (p.Glu506=)
4g.47937201T>GCA356826186CNGA1,NIPAL1c.1281A>C (p.Glu427Asp)
c.1293A>C (p.Glu431Asp)
c.1500A>C (p.Glu500Asp)
n.479-21823T>G
n.563+22497T>G
c.1518A>C (p.Glu506Asp)
4g.47937202T>ACA356826189CNGA1,NIPAL1c.1280A>T (p.Glu427Val)
c.1292A>T (p.Glu431Val)
c.1499A>T (p.Glu500Val)
n.479-21822T>A
n.563+22498T>A
c.1517A>T (p.Glu506Val)
4g.47937202T>CCA356826191CNGA1,NIPAL1c.1280A>G (p.Glu427Gly)
c.1292A>G (p.Glu431Gly)
c.1499A>G (p.Glu500Gly)
n.479-21822T>C
n.563+22498T>C
c.1517A>G (p.Glu506Gly)
4g.47937202T>GCA356826192CNGA1,NIPAL1c.1280A>C (p.Glu427Ala)
c.1292A>C (p.Glu431Ala)
c.1499A>C (p.Glu500Ala)
n.479-21822T>G
n.563+22498T>G
c.1517A>C (p.Glu506Ala)
4g.47937203C>ACA356826195CNGA1,NIPAL1c.1279G>T (p.Glu427Ter)
c.1291G>T (p.Glu431Ter)
c.1498G>T (p.Glu500Ter)
n.479-21821C>A
n.563+22499C>A
c.1516G>T (p.Glu506Ter)
4g.47937203C=CA1455551876CNGA1,NIPAL1c.1279G= (p.Glu427=)
c.1291G= (p.Glu431=)
c.1498G= (p.Glu500=)
n.479-21821C=
n.563+22499C=
c.1516G= (p.Glu506=)
4g.47937203C>GCA356826197CNGA1,NIPAL1c.1279G>C (p.Glu427Gln)
c.1291G>C (p.Glu431Gln)
c.1498G>C (p.Glu500Gln)
n.479-21821C>G
n.563+22499C>G
c.1516G>C (p.Glu506Gln)
4g.47937203C>TCA2911104CNGA1,NIPAL1c.1279G>A (p.Glu427Lys)
c.1291G>A (p.Glu431Lys)
c.1498G>A (p.Glu500Lys)
n.479-21821C>T
n.563+22499C>T
c.1516G>A (p.Glu506Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47937204C>ACA356826203CNGA1,NIPAL1c.1278G>T (p.Met426Ile)
c.1290G>T (p.Met430Ile)
c.1497G>T (p.Met499Ile)
n.479-21820C>A
n.563+22500C>A
c.1515G>T (p.Met505Ile)
4g.47937204C>GCA356826205CNGA1,NIPAL1c.1278G>C (p.Met426Ile)
c.1290G>C (p.Met430Ile)
c.1497G>C (p.Met499Ile)
n.479-21820C>G
n.563+22500C>G
c.1515G>C (p.Met505Ile)
4g.47937204C>TCA356826201CNGA1,NIPAL1c.1278G>A (p.Met426Ile)
c.1290G>A (p.Met430Ile)
c.1497G>A (p.Met499Ile)
n.479-21820C>T
n.563+22500C>T
c.1515G>A (p.Met505Ile)
4g.47937204_47937205delinsCACA1455551877CNGA1,NIPAL1c.1277_1278delinsTG (p.Met426=)
c.1289_1290delinsTG (p.Met430=)
c.1496_1497delinsTG (p.Met499=)
n.479-21820_479-21819delinsCA
n.563+22500_563+22501delinsCA
c.1514_1515delinsTG (p.Met505=)
4g.47937205delCA551650453CNGA1,NIPAL1c.1277del (p.Met426ArgfsTer25)
c.1289del (p.Met430ArgfsTer25)
c.1496del (p.Met499ArgfsTer25)
n.479-21819del
n.563+22501del
c.1514del (p.Met505ArgfsTer25)
 dbSNP gnomAD v2 gnomAD v4
4g.47937205A=CA1455551878CNGA1,NIPAL1c.1277T= (p.Met426=)
c.1289T= (p.Met430=)
c.1496T= (p.Met499=)
n.479-21819A=
n.563+22501A=
c.1514T= (p.Met505=)
4g.47937205A>CCA356826208CNGA1,NIPAL1c.1277T>G (p.Met426Arg)
c.1289T>G (p.Met430Arg)
c.1496T>G (p.Met499Arg)
n.479-21819A>C
n.563+22501A>C
c.1514T>G (p.Met505Arg)
4g.47937205A>GCA356826212CNGA1,NIPAL1c.1277T>C (p.Met426Thr)
c.1289T>C (p.Met430Thr)
c.1496T>C (p.Met499Thr)
n.479-21819A>G
n.563+22501A>G
c.1514T>C (p.Met505Thr)
 dbSNP gnomAD v4
4g.47937205A>TCA356826214CNGA1,NIPAL1c.1277T>A (p.Met426Lys)
c.1289T>A (p.Met430Lys)
c.1496T>A (p.Met499Lys)
n.479-21819A>T
n.563+22501A>T
c.1514T>A (p.Met505Lys)
4g.47937206T>ACA356826216CNGA1,NIPAL1c.1276A>T (p.Met426Leu)
c.1288A>T (p.Met430Leu)
c.1495A>T (p.Met499Leu)
n.479-21818T>A
n.563+22502T>A
c.1513A>T (p.Met505Leu)
 dbSNP gnomAD v4
4g.47937206T>CCA356826219CNGA1,NIPAL1c.1276A>G (p.Met426Val)
c.1288A>G (p.Met430Val)
c.1495A>G (p.Met499Val)
n.479-21818T>C
n.563+22502T>C
c.1513A>G (p.Met505Val)
4g.47937206T>GCA356826222CNGA1,NIPAL1c.1276A>C (p.Met426Leu)
c.1288A>C (p.Met430Leu)
c.1495A>C (p.Met499Leu)
n.479-21818T>G
n.563+22502T>G
c.1513A>C (p.Met505Leu)
4g.47937206T=CA1455551879CNGA1,NIPAL1c.1276A= (p.Met426=)
c.1288A= (p.Met430=)
c.1495A= (p.Met499=)
n.479-21818T=
n.563+22502T=
c.1513A= (p.Met505=)
4g.47937207A=CA1455551880CNGA1,NIPAL1c.1275T= (p.Asp425=)
c.1287T= (p.Asp429=)
c.1494T= (p.Asp498=)
n.479-21817A=
n.563+22503A=
c.1512T= (p.Asp504=)
4g.47937207A>CCA356826223CNGA1,NIPAL1c.1275T>G (p.Asp425Glu)
c.1287T>G (p.Asp429Glu)
c.1494T>G (p.Asp498Glu)
n.479-21817A>C
n.563+22503A>C
c.1512T>G (p.Asp504Glu)
 gnomAD v4
4g.47937207A>GCA96688838CNGA1,NIPAL1c.1275T>C (p.Asp425=)
c.1287T>C (p.Asp429=)
c.1494T>C (p.Asp498=)
n.479-21817A>G
n.563+22503A>G
c.1512T>C (p.Asp504=)
 dbSNP
4g.47937207A>TCA356826225CNGA1,NIPAL1c.1275T>A (p.Asp425Glu)
c.1287T>A (p.Asp429Glu)
c.1494T>A (p.Asp498Glu)
n.479-21817A>T
n.563+22503A>T
c.1512T>A (p.Asp504Glu)
4g.47937208T>ACA356826230CNGA1,NIPAL1c.1274A>T (p.Asp425Val)
c.1286A>T (p.Asp429Val)
c.1493A>T (p.Asp498Val)
n.479-21816T>A
n.563+22504T>A
c.1511A>T (p.Asp504Val)
4g.47937208T>CCA96688839CNGA1,NIPAL1c.1274A>G (p.Asp425Gly)
c.1286A>G (p.Asp429Gly)
c.1493A>G (p.Asp498Gly)
n.479-21816T>C
n.563+22504T>C
c.1511A>G (p.Asp504Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47937208T>GCA356826233CNGA1,NIPAL1c.1274A>C (p.Asp425Ala)
c.1286A>C (p.Asp429Ala)
c.1493A>C (p.Asp498Ala)
n.479-21816T>G
n.563+22504T>G
c.1511A>C (p.Asp504Ala)
4g.47937208T=CA1455551881CNGA1,NIPAL1c.1274A= (p.Asp425=)
c.1286A= (p.Asp429=)
c.1493A= (p.Asp498=)
n.479-21816T=
n.563+22504T=
c.1511A= (p.Asp504=)
4g.47937209C>ACA2911105CNGA1,NIPAL1c.1273G>T (p.Asp425Tyr)
c.1285G>T (p.Asp429Tyr)
c.1492G>T (p.Asp498Tyr)
n.479-21815C>A
n.563+22505C>A
c.1510G>T (p.Asp504Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937209C=CA1455551882CNGA1,NIPAL1c.1273G= (p.Asp425=)
c.1285G= (p.Asp429=)
c.1492G= (p.Asp498=)
n.479-21815C=
n.563+22505C=
c.1510G= (p.Asp504=)
4g.47937209C>GCA356826242CNGA1,NIPAL1c.1273G>C (p.Asp425His)
c.1285G>C (p.Asp429His)
c.1492G>C (p.Asp498His)
n.479-21815C>G
n.563+22505C>G
c.1510G>C (p.Asp504His)
4g.47937209C>TCA356826245CNGA1,NIPAL1c.1273G>A (p.Asp425Asn)
c.1285G>A (p.Asp429Asn)
c.1492G>A (p.Asp498Asn)
n.479-21815C>T
n.563+22505C>T
c.1510G>A (p.Asp504Asn)
4g.47937210T>ACA356826252CNGA1,NIPAL1c.1272A>T (p.Lys424Asn)
c.1284A>T (p.Lys428Asn)
c.1491A>T (p.Lys497Asn)
n.479-21814T>A
n.563+22506T>A
c.1509A>T (p.Lys503Asn)
4g.47937210T>CCA439404135CNGA1,NIPAL1c.1272A>G (p.Lys424=)
c.1284A>G (p.Lys428=)
c.1491A>G (p.Lys497=)
n.479-21814T>C
n.563+22506T>C
c.1509A>G (p.Lys503=)
4g.47937210T>GCA356826249CNGA1,NIPAL1c.1272A>C (p.Lys424Asn)
c.1284A>C (p.Lys428Asn)
c.1491A>C (p.Lys497Asn)
n.479-21814T>G
n.563+22506T>G
c.1509A>C (p.Lys503Asn)
4g.47937212delCA2761332300CNGA1,NIPAL1c.1272del (p.Asp425IlefsTer26)
c.1284del (p.Asp429IlefsTer26)
c.1491del (p.Asp498IlefsTer26)
n.479-21812del
n.563+22508del
c.1509del (p.Asp504IlefsTer26)
4g.47937211T>ACA356826256CNGA1,NIPAL1c.1271A>T (p.Lys424Ile)
c.1283A>T (p.Lys428Ile)
c.1490A>T (p.Lys497Ile)
n.479-21813T>A
n.563+22507T>A
c.1508A>T (p.Lys503Ile)
 COSMIC
4g.47937211T>CCA356826259CNGA1,NIPAL1c.1271A>G (p.Lys424Arg)
c.1283A>G (p.Lys428Arg)
c.1490A>G (p.Lys497Arg)
n.479-21813T>C
n.563+22507T>C
c.1508A>G (p.Lys503Arg)
4g.47937211T>GCA356826262CNGA1,NIPAL1c.1271A>C (p.Lys424Thr)
c.1283A>C (p.Lys428Thr)
c.1490A>C (p.Lys497Thr)
n.479-21813T>G
n.563+22507T>G
c.1508A>C (p.Lys503Thr)
4g.47937212T>ACA356826265CNGA1,NIPAL1c.1270A>T (p.Lys424Ter)
c.1282A>T (p.Lys428Ter)
c.1489A>T (p.Lys497Ter)
n.479-21812T>A
n.563+22508T>A
c.1507A>T (p.Lys503Ter)
4g.47937212T>CCA356826268CNGA1,NIPAL1c.1270A>G (p.Lys424Glu)
c.1282A>G (p.Lys428Glu)
c.1489A>G (p.Lys497Glu)
n.479-21812T>C
n.563+22508T>C
c.1507A>G (p.Lys503Glu)
4g.47937212T>GCA356826271CNGA1,NIPAL1c.1270A>C (p.Lys424Gln)
c.1282A>C (p.Lys428Gln)
c.1489A>C (p.Lys497Gln)
n.479-21812T>G
n.563+22508T>G
c.1507A>C (p.Lys503Gln)
4g.47937213G>ACA439404138CNGA1,NIPAL1c.1269C>T (p.Ser423=)
c.1281C>T (p.Ser427=)
c.1488C>T (p.Ser496=)
n.479-21811G>A
n.563+22509G>A
c.1506C>T (p.Ser502=)
4g.47937213G>CCA356826276CNGA1,NIPAL1c.1269C>G (p.Ser423Arg)
c.1281C>G (p.Ser427Arg)
c.1488C>G (p.Ser496Arg)
n.479-21811G>C
n.563+22509G>C
c.1506C>G (p.Ser502Arg)
4g.47937213G>TCA356826275CNGA1,NIPAL1c.1269C>A (p.Ser423Arg)
c.1281C>A (p.Ser427Arg)
c.1488C>A (p.Ser496Arg)
n.479-21811G>T
n.563+22509G>T
c.1506C>A (p.Ser502Arg)
4g.47937214C>ACA356826279CNGA1,NIPAL1c.1268G>T (p.Ser423Ile)
c.1280G>T (p.Ser427Ile)
c.1487G>T (p.Ser496Ile)
n.479-21810C>A
n.563+22510C>A
c.1505G>T (p.Ser502Ile)
4g.47937214C>GCA356826281CNGA1,NIPAL1c.1268G>C (p.Ser423Thr)
c.1280G>C (p.Ser427Thr)
c.1487G>C (p.Ser496Thr)
n.479-21810C>G
n.563+22510C>G
c.1505G>C (p.Ser502Thr)
4g.47937214C>TCA356826282CNGA1,NIPAL1c.1268G>A (p.Ser423Asn)
c.1280G>A (p.Ser427Asn)
c.1487G>A (p.Ser496Asn)
n.479-21810C>T
n.563+22510C>T
c.1505G>A (p.Ser502Asn)
4g.47937215T>ACA356826285CNGA1,NIPAL1c.1267A>T (p.Ser423Cys)
c.1279A>T (p.Ser427Cys)
c.1486A>T (p.Ser496Cys)
n.479-21809T>A
n.563+22511T>A
c.1504A>T (p.Ser502Cys)
4g.47937215T>CCA356826287CNGA1,NIPAL1c.1267A>G (p.Ser423Gly)
c.1279A>G (p.Ser427Gly)
c.1486A>G (p.Ser496Gly)
n.479-21809T>C
n.563+22511T>C
c.1504A>G (p.Ser502Gly)
4g.47937215T>GCA356826288CNGA1,NIPAL1c.1267A>C (p.Ser423Arg)
c.1279A>C (p.Ser427Arg)
c.1486A>C (p.Ser496Arg)
n.479-21809T>G
n.563+22511T>G
c.1504A>C (p.Ser502Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.47937215T=CA1455551883CNGA1,NIPAL1c.1267A= (p.Ser423=)
c.1279A= (p.Ser427=)
c.1486A= (p.Ser496=)
n.479-21809T=
n.563+22511T=
c.1504A= (p.Ser502=)
4g.47937216T>ACA439404142CNGA1,NIPAL1c.1266A>T (p.Val422=)
c.1278A>T (p.Val426=)
c.1485A>T (p.Val495=)
n.479-21808T>A
n.563+22512T>A
c.1503A>T (p.Val501=)
4g.47937216T>CCA439404143CNGA1,NIPAL1c.1266A>G (p.Val422=)
c.1278A>G (p.Val426=)
c.1485A>G (p.Val495=)
n.479-21808T>C
n.563+22512T>C
c.1503A>G (p.Val501=)
4g.47937216T>GCA439404146CNGA1,NIPAL1c.1266A>C (p.Val422=)
c.1278A>C (p.Val426=)
c.1485A>C (p.Val495=)
n.479-21808T>G
n.563+22512T>G
c.1503A>C (p.Val501=)
4g.47937217A>CCA356826294CNGA1,NIPAL1c.1265T>G (p.Val422Gly)
c.1277T>G (p.Val426Gly)
c.1484T>G (p.Val495Gly)
n.479-21807A>C
n.563+22513A>C
c.1502T>G (p.Val501Gly)
4g.47937217A>GCA356826292CNGA1,NIPAL1c.1265T>C (p.Val422Ala)
c.1277T>C (p.Val426Ala)
c.1484T>C (p.Val495Ala)
n.479-21807A>G
n.563+22513A>G
c.1502T>C (p.Val501Ala)
4g.47937217A>TCA356826293CNGA1,NIPAL1c.1265T>A (p.Val422Glu)
c.1277T>A (p.Val426Glu)
c.1484T>A (p.Val495Glu)
n.479-21807A>T
n.563+22513A>T
c.1502T>A (p.Val501Glu)
4g.47937218C>ACA356826297CNGA1,NIPAL1c.1264G>T (p.Val422Leu)
c.1276G>T (p.Val426Leu)
c.1483G>T (p.Val495Leu)
n.479-21806C>A
n.563+22514C>A
c.1501G>T (p.Val501Leu)
4g.47937218C>GCA356826298CNGA1,NIPAL1c.1264G>C (p.Val422Leu)
c.1276G>C (p.Val426Leu)
c.1483G>C (p.Val495Leu)
n.479-21806C>G
n.563+22514C>G
c.1501G>C (p.Val501Leu)
4g.47937218C>TCA356826301CNGA1,NIPAL1c.1264G>A (p.Val422Ile)
c.1276G>A (p.Val426Ile)
c.1483G>A (p.Val495Ile)
n.479-21806C>T
n.563+22514C>T
c.1501G>A (p.Val501Ile)

Number of alleles fetched