Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56836624T>ACA495602478NUP93c.1806T>A (p.Thr602=)
c.1437T>A (p.Thr479=)
16g.56836624T>CCA495602479NUP93c.1806T>C (p.Thr602=)
c.1437T>C (p.Thr479=)
16g.56836624T>GCA495602480NUP93c.1806T>G (p.Thr602=)
c.1437T>G (p.Thr479=)
16g.56836625A=CA2224333796NUP93c.1807A= (p.Ser603=)
c.1438A= (p.Ser480=)
c.1A= (p.Ser1=)
16g.56836625A>CCA395992913NUP93c.1807A>C (p.Ser603Arg)
c.1438A>C (p.Ser480Arg)
c.1A>C (p.Ser1Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.56836625A>GCA395992915NUP93c.1807A>G (p.Ser603Gly)
c.1438A>G (p.Ser480Gly)
c.1A>G (p.Ser1Gly)
16g.56836625A>TCA395992917NUP93c.1807A>T (p.Ser603Cys)
c.1438A>T (p.Ser480Cys)
c.1A>T (p.Ser1Cys)
16g.56836626G>ACA395992918NUP93c.1808G>A (p.Ser603Asn)
c.1439G>A (p.Ser480Asn)
c.2G>A (p.Ser1Asn)
16g.56836626G>CCA395992920NUP93c.1808G>C (p.Ser603Thr)
c.1439G>C (p.Ser480Thr)
c.2G>C (p.Ser1Thr)
16g.56836626G>TCA395992921NUP93c.1808G>T (p.Ser603Ile)
c.1439G>T (p.Ser480Ile)
c.2G>T (p.Ser1Ile)
16g.56836627delCA2633367362NUP93c.1809del (p.Ser603ArgfsTer?)
c.1440del (p.Ser480ArgfsTer?)
c.3del (p.Ser1ArgfsTer?)
 gnomAD v4
16g.56836627T>ACA395992923NUP93c.1809T>A (p.Ser603Arg)
c.1440T>A (p.Ser480Arg)
c.3T>A (p.Ser1Arg)
 gnomAD v4
16g.56836627T>CCA495602481NUP93c.1809T>C (p.Ser603=)
c.1440T>C (p.Ser480=)
c.3T>C (p.Ser1=)
16g.56836627T>GCA395992924NUP93c.1809T>G (p.Ser603Arg)
c.1440T>G (p.Ser480Arg)
c.3T>G (p.Ser1Arg)
16g.56836628G>ACA395992926NUP93c.1810G>A (p.Asp604Asn)
c.1441G>A (p.Asp481Asn)
c.4G>A (p.Asp2Asn)
16g.56836628G>CCA395992928NUP93c.1810G>C (p.Asp604His)
c.1441G>C (p.Asp481His)
c.4G>C (p.Asp2His)
16g.56836628G>TCA395992929NUP93c.1810G>T (p.Asp604Tyr)
c.1441G>T (p.Asp481Tyr)
c.4G>T (p.Asp2Tyr)
16g.56836628_56836630delinsGACCA2224333797NUP93c.1810_1812delinsGAC (p.Asp604=)
c.1441_1443delinsGAC (p.Asp481=)
c.4_6delinsGAC (p.Asp2=)
16g.56836629A>CCA395992930NUP93c.1811A>C (p.Asp604Ala)
c.1442A>C (p.Asp481Ala)
c.5A>C (p.Asp2Ala)
16g.56836629A>GCA395992931NUP93c.1811A>G (p.Asp604Gly)
c.1442A>G (p.Asp481Gly)
c.5A>G (p.Asp2Gly)
 gnomAD v4
16g.56836629A>TCA395992933NUP93c.1811A>T (p.Asp604Val)
c.1442A>T (p.Asp481Val)
c.5A>T (p.Asp2Val)
16g.56836632_56836633delCA622339520NUP93c.1814_1815del (p.Thr605LysfsTer14)
c.1445_1446del (p.Thr482LysfsTer14)
c.8_9del (p.Thr3LysfsTer14)
 dbSNP gnomAD v2 gnomAD v4
16g.56836630C>ACA395992938NUP93c.1812C>A (p.Asp604Glu)
c.1443C>A (p.Asp481Glu)
c.6C>A (p.Asp2Glu)
16g.56836630C>GCA395992936NUP93c.1812C>G (p.Asp604Glu)
c.1443C>G (p.Asp481Glu)
c.6C>G (p.Asp2Glu)
16g.56836630C>TCA495602483NUP93c.1812C>T (p.Asp604=)
c.1443C>T (p.Asp481=)
c.6C>T (p.Asp2=)
16g.56836631A>CCA395992939NUP93c.1813A>C (p.Thr605Pro)
c.1444A>C (p.Thr482Pro)
c.7A>C (p.Thr3Pro)
16g.56836631A>GCA395992940NUP93c.1813A>G (p.Thr605Ala)
c.1444A>G (p.Thr482Ala)
c.7A>G (p.Thr3Ala)
16g.56836631A>TCA395992943NUP93c.1813A>T (p.Thr605Ser)
c.1444A>T (p.Thr482Ser)
c.7A>T (p.Thr3Ser)
16g.56836632C>ACA395992944NUP93c.1814C>A (p.Thr605Lys)
c.1445C>A (p.Thr482Lys)
c.8C>A (p.Thr3Lys)
16g.56836632C>GCA395992947NUP93c.1814C>G (p.Thr605Arg)
c.1445C>G (p.Thr482Arg)
c.8C>G (p.Thr3Arg)
16g.56836632C>TCA395992949NUP93c.1814C>T (p.Thr605Ile)
c.1445C>T (p.Thr482Ile)
c.8C>T (p.Thr3Ile)
16g.56836633A>CCA495602486NUP93c.1815A>C (p.Thr605=)
c.1446A>C (p.Thr482=)
c.9A>C (p.Thr3=)
16g.56836633A>GCA495602485NUP93c.1815A>G (p.Thr605=)
c.1446A>G (p.Thr482=)
c.9A>G (p.Thr3=)
16g.56836633A>TCA495602484NUP93c.1815A>T (p.Thr605=)
c.1446A>T (p.Thr482=)
c.9A>T (p.Thr3=)
16g.56836634A=CA2224333798NUP93c.1816A= (p.Lys606=)
c.1447A= (p.Lys483=)
c.10A= (p.Lys4=)
16g.56836634A>CCA395992953NUP93c.1816A>C (p.Lys606Gln)
c.1447A>C (p.Lys483Gln)
c.10A>C (p.Lys4Gln)
 dbSNP gnomAD v4
16g.56836634A>GCA281501802NUP93c.1816A>G (p.Lys606Glu)
c.1447A>G (p.Lys483Glu)
c.10A>G (p.Lys4Glu)
 dbSNP gnomAD v4
16g.56836634A>TCA395992951NUP93c.1816A>T (p.Lys606Ter)
c.1447A>T (p.Lys483Ter)
c.10A>T (p.Lys4Ter)
16g.56836635A>CCA395992955NUP93c.1817A>C (p.Lys606Thr)
c.1448A>C (p.Lys483Thr)
c.11A>C (p.Lys4Thr)
16g.56836635A>GCA395992956NUP93c.1817A>G (p.Lys606Arg)
c.1448A>G (p.Lys483Arg)
c.11A>G (p.Lys4Arg)
16g.56836635A>TCA395992958NUP93c.1817A>T (p.Lys606Met)
c.1448A>T (p.Lys483Met)
c.11A>T (p.Lys4Met)
 COSMIC
16g.56836636G>ACA495602487NUP93c.1818G>A (p.Lys606=)
c.1449G>A (p.Lys483=)
c.12G>A (p.Lys4=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56836636G>CCA395992960NUP93c.1818G>C (p.Lys606Asn)
c.1449G>C (p.Lys483Asn)
c.12G>C (p.Lys4Asn)
16g.56836636G=CA2224333799NUP93c.1818G= (p.Lys606=)
c.1449G= (p.Lys483=)
c.12G= (p.Lys4=)
16g.56836636G>TCA395992963NUP93c.1818G>T (p.Lys606Asn)
c.1449G>T (p.Lys483Asn)
c.12G>T (p.Lys4Asn)
16g.56836637C>ACA395992970NUP93c.1819C>A (p.Pro607Thr)
c.1450C>A (p.Pro484Thr)
c.13C>A (p.Pro5Thr)
16g.56836637C>GCA395992966NUP93c.1819C>G (p.Pro607Ala)
c.1450C>G (p.Pro484Ala)
c.13C>G (p.Pro5Ala)
16g.56836637C>TCA395992968NUP93c.1819C>T (p.Pro607Ser)
c.1450C>T (p.Pro484Ser)
c.13C>T (p.Pro5Ser)
16g.56836638C>ACA395992972NUP93c.1820C>A (p.Pro607His)
c.1451C>A (p.Pro484His)
c.14C>A (p.Pro5His)
16g.56836638C>GCA395992978NUP93c.1820C>G (p.Pro607Arg)
c.1451C>G (p.Pro484Arg)
c.14C>G (p.Pro5Arg)
 gnomAD v4
16g.56836638C>TCA395992975NUP93c.1820C>T (p.Pro607Leu)
c.1451C>T (p.Pro484Leu)
c.14C>T (p.Pro5Leu)
16g.56836638_56836641delinsCTATCA2224333800NUP93c.1820_1823delinsCTAT (p.Pro607=)
c.1451_1454delinsCTAT (p.Pro484=)
c.14_17delinsCTAT (p.Pro5=)
16g.56836639T>ACA495602488NUP93c.1821T>A (p.Pro607=)
c.1452T>A (p.Pro484=)
c.15T>A (p.Pro5=)
16g.56836639T>CCA495602489NUP93c.1821T>C (p.Pro607=)
c.1452T>C (p.Pro484=)
c.15T>C (p.Pro5=)
16g.56836639T>GCA495602490NUP93c.1821T>G (p.Pro607=)
c.1452T>G (p.Pro484=)
c.15T>G (p.Pro5=)
16g.56836642_56836644delCA977661301NUP93c.1824_1826del (p.Ile609del)
c.1455_1457del (p.Ile486del)
c.18_20del (p.Ile7del)
 dbSNP gnomAD v3 gnomAD v4
16g.56836640A>CCA395992981NUP93c.1822A>C (p.Ile608Leu)
c.1453A>C (p.Ile485Leu)
c.16A>C (p.Ile6Leu)
16g.56836640A>GCA395992982NUP93c.1822A>G (p.Ile608Val)
c.1453A>G (p.Ile485Val)
c.16A>G (p.Ile6Val)
 dbSNP gnomAD v4
16g.56836640A>TCA395992985NUP93c.1822A>T (p.Ile608Phe)
c.1453A>T (p.Ile485Phe)
c.16A>T (p.Ile6Phe)
16g.56836641T>ACA395992987NUP93c.1823T>A (p.Ile608Asn)
c.1454T>A (p.Ile485Asn)
c.17T>A (p.Ile6Asn)
16g.56836641T>CCA395992990NUP93c.1823T>C (p.Ile608Thr)
c.1454T>C (p.Ile485Thr)
c.17T>C (p.Ile6Thr)
16g.56836641T>GCA395992992NUP93c.1823T>G (p.Ile608Ser)
c.1454T>G (p.Ile485Ser)
c.17T>G (p.Ile6Ser)
 dbSNP
16g.56836641T=CA2224333801NUP93c.1823T= (p.Ile608=)
c.1454T= (p.Ile485=)
c.17T= (p.Ile6=)
16g.56836642T>ACA495602491NUP93c.1824T>A (p.Ile608=)
c.1455T>A (p.Ile485=)
c.18T>A (p.Ile6=)
 dbSNP
16g.56836642T>CCA495602492NUP93c.1824T>C (p.Ile608=)
c.1455T>C (p.Ile485=)
c.18T>C (p.Ile6=)
16g.56836642T>GCA395992995NUP93c.1824T>G (p.Ile608Met)
c.1455T>G (p.Ile485Met)
c.18T>G (p.Ile6Met)
16g.56836643A>CCA395992998NUP93c.1825A>C (p.Ile609Leu)
c.1456A>C (p.Ile486Leu)
c.19A>C (p.Ile7Leu)
16g.56836643A>GCA395993001NUP93c.1825A>G (p.Ile609Val)
c.1456A>G (p.Ile486Val)
c.19A>G (p.Ile7Val)
16g.56836643A>TCA395993003NUP93c.1825A>T (p.Ile609Phe)
c.1456A>T (p.Ile486Phe)
c.19A>T (p.Ile7Phe)
16g.56836644T>ACA395993007NUP93c.1826T>A (p.Ile609Asn)
c.1457T>A (p.Ile486Asn)
c.20T>A (p.Ile7Asn)
16g.56836644T>CCA8068567NUP93c.1826T>C (p.Ile609Thr)
c.1457T>C (p.Ile486Thr)
c.20T>C (p.Ile7Thr)
 dbSNP ExAC gnomAD v3 gnomAD v4
16g.56836644T>GCA395993011NUP93c.1826T>G (p.Ile609Ser)
c.1457T>G (p.Ile486Ser)
c.20T>G (p.Ile7Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56836644T=CA2224333802NUP93c.1826T= (p.Ile609=)
c.1457T= (p.Ile486=)
c.20T= (p.Ile7=)
16g.56836645C>ACA495602493NUP93c.1827C>A (p.Ile609=)
c.1458C>A (p.Ile486=)
c.21C>A (p.Ile7=)
16g.56836645C>GCA395993014NUP93c.1827C>G (p.Ile609Met)
c.1458C>G (p.Ile486Met)
c.21C>G (p.Ile7Met)
16g.56836645C>TCA495602494NUP93c.1827C>T (p.Ile609=)
c.1458C>T (p.Ile486=)
c.21C>T (p.Ile7=)
16g.56836646A=CA2224333803NUP93c.1828A= (p.Asn610=)
c.1459A= (p.Asn487=)
c.22A= (p.Asn8=)
16g.56836646A>CCA8068568NUP93c.1828A>C (p.Asn610His)
c.1459A>C (p.Asn487His)
c.22A>C (p.Asn8His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56836646A>GCA395993019NUP93c.1828A>G (p.Asn610Asp)
c.1459A>G (p.Asn487Asp)
c.22A>G (p.Asn8Asp)
16g.56836646A>TCA395993026NUP93c.1828A>T (p.Asn610Tyr)
c.1459A>T (p.Asn487Tyr)
c.22A>T (p.Asn8Tyr)
16g.56836647A>CCA395993031NUP93c.1829A>C (p.Asn610Thr)
c.1460A>C (p.Asn487Thr)
c.23A>C (p.Asn8Thr)
16g.56836647A>GCA395993035NUP93c.1829A>G (p.Asn610Ser)
c.1460A>G (p.Asn487Ser)
c.23A>G (p.Asn8Ser)
16g.56836647A>TCA395993038NUP93c.1829A>T (p.Asn610Ile)
c.1460A>T (p.Asn487Ile)
c.23A>T (p.Asn8Ile)
16g.56836648C>ACA395993040NUP93c.1830C>A (p.Asn610Lys)
c.1461C>A (p.Asn487Lys)
c.24C>A (p.Asn8Lys)
16g.56836648C>GCA395993046NUP93c.1830C>G (p.Asn610Lys)
c.1461C>G (p.Asn487Lys)
c.24C>G (p.Asn8Lys)
16g.56836648C>TCA495602495NUP93c.1830C>T (p.Asn610=)
c.1461C>T (p.Asn487=)
c.24C>T (p.Asn8=)
16g.56836649A=CA2224333804NUP93c.1831A= (p.Lys611=)
c.1462A= (p.Lys488=)
c.25A= (p.Lys9=)
16g.56836649A>CCA395993050NUP93c.1831A>C (p.Lys611Gln)
c.1462A>C (p.Lys488Gln)
c.25A>C (p.Lys9Gln)
16g.56836649A>GCA8068569NUP93c.1831A>G (p.Lys611Glu)
c.1462A>G (p.Lys488Glu)
c.25A>G (p.Lys9Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836649A>TCA395993055NUP93c.1831A>T (p.Lys611Ter)
c.1462A>T (p.Lys488Ter)
c.25A>T (p.Lys9Ter)
16g.56836650A>CCA395993058NUP93c.1832A>C (p.Lys611Thr)
c.1463A>C (p.Lys488Thr)
c.26A>C (p.Lys9Thr)
16g.56836650A>GCA395993061NUP93c.1832A>G (p.Lys611Arg)
c.1463A>G (p.Lys488Arg)
c.26A>G (p.Lys9Arg)
16g.56836650A>TCA395993063NUP93c.1832A>T (p.Lys611Ile)
c.1463A>T (p.Lys488Ile)
c.26A>T (p.Lys9Ile)
16g.56836651A=CA2224333805NUP93c.1833A= (p.Lys611=)
c.1464A= (p.Lys488=)
c.27A= (p.Lys9=)
16g.56836651A>CCA395993072NUP93c.1833A>C (p.Lys611Asn)
c.1464A>C (p.Lys488Asn)
c.27A>C (p.Lys9Asn)
16g.56836651A>GCA281501808NUP93c.1833A>G (p.Lys611=)
c.1464A>G (p.Lys488=)
c.27A>G (p.Lys9=)
 dbSNP gnomAD v4
16g.56836651A>TCA395993069NUP93c.1833A>T (p.Lys611Asn)
c.1464A>T (p.Lys488Asn)
c.27A>T (p.Lys9Asn)
16g.56836652G>ACA395993074NUP93c.1834G>A (p.Val612Ile)
c.1465G>A (p.Val489Ile)
c.28G>A (p.Val10Ile)
 gnomAD v4
16g.56836652G>CCA395993076NUP93c.1834G>C (p.Val612Leu)
c.1465G>C (p.Val489Leu)
c.28G>C (p.Val10Leu)
16g.56836652G>TCA395993078NUP93c.1834G>T (p.Val612Phe)
c.1465G>T (p.Val489Phe)
c.28G>T (p.Val10Phe)
16g.56836653T>ACA395993081NUP93c.1835T>A (p.Val612Asp)
c.1466T>A (p.Val489Asp)
c.29T>A (p.Val10Asp)
16g.56836653T>CCA395993083NUP93c.1835T>C (p.Val612Ala)
c.1466T>C (p.Val489Ala)
c.29T>C (p.Val10Ala)
 dbSNP gnomAD v4
16g.56836653T>GCA395993085NUP93c.1835T>G (p.Val612Gly)
c.1466T>G (p.Val489Gly)
c.29T>G (p.Val10Gly)
16g.56836653T=CA2224333806NUP93c.1835T= (p.Val612=)
c.1466T= (p.Val489=)
c.29T= (p.Val10=)
16g.56836654T>ACA495602496NUP93c.1836T>A (p.Val612=)
c.1467T>A (p.Val489=)
c.30T>A (p.Val10=)
16g.56836654T>CCA495602497NUP93c.1836T>C (p.Val612=)
c.1467T>C (p.Val489=)
c.30T>C (p.Val10=)
16g.56836654T>GCA495602498NUP93c.1836T>G (p.Val612=)
c.1467T>G (p.Val489=)
c.30T>G (p.Val10=)
16g.56836655G>ACA395993093NUP93c.1837G>A (p.Ala613Thr)
c.1468G>A (p.Ala490Thr)
c.31G>A (p.Ala11Thr)
16g.56836655G>CCA395993090NUP93c.1837G>C (p.Ala613Pro)
c.1468G>C (p.Ala490Pro)
c.31G>C (p.Ala11Pro)
 ClinVar dbSNP gnomAD v4
16g.56836655G=CA2224333807NUP93c.1837G= (p.Ala613=)
c.1468G= (p.Ala490=)
c.31G= (p.Ala11=)
16g.56836655G>TCA395993088NUP93c.1837G>T (p.Ala613Ser)
c.1468G>T (p.Ala490Ser)
c.31G>T (p.Ala11Ser)
16g.56836656C>ACA395993097NUP93c.1838C>A (p.Ala613Asp)
c.1469C>A (p.Ala490Asp)
c.32C>A (p.Ala11Asp)
16g.56836656C>GCA395993098NUP93c.1838C>G (p.Ala613Gly)
c.1469C>G (p.Ala490Gly)
c.32C>G (p.Ala11Gly)
16g.56836656C>TCA395993101NUP93c.1838C>T (p.Ala613Val)
c.1469C>T (p.Ala490Val)
c.32C>T (p.Ala11Val)
 gnomAD v4
16g.56836657T>ACA495602499NUP93c.1839T>A (p.Ala613=)
c.1470T>A (p.Ala490=)
c.33T>A (p.Ala11=)
16g.56836657T>CCA495602500NUP93c.1839T>C (p.Ala613=)
c.1470T>C (p.Ala490=)
c.33T>C (p.Ala11=)
16g.56836657T>GCA495602501NUP93c.1839T>G (p.Ala613=)
c.1470T>G (p.Ala490=)
c.33T>G (p.Ala11=)
16g.56836658delCA2633367363NUP93c.1840del (p.Ser614LeufsTer28)
c.1471del (p.Ser491LeufsTer28)
c.34del (p.Ser12LeufsTer28)
 gnomAD v4
16g.56836658T>ACA395993104NUP93c.1840T>A (p.Ser614Thr)
c.1471T>A (p.Ser491Thr)
c.34T>A (p.Ser12Thr)
16g.56836658T>CCA395993106NUP93c.1840T>C (p.Ser614Pro)
c.1471T>C (p.Ser491Pro)
c.34T>C (p.Ser12Pro)
 dbSNP gnomAD v3 gnomAD v4
16g.56836658T>GCA395993109NUP93c.1840T>G (p.Ser614Ala)
c.1471T>G (p.Ser491Ala)
c.34T>G (p.Ser12Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56836658T=CA2224333808NUP93c.1840T= (p.Ser614=)
c.1471T= (p.Ser491=)
c.34T= (p.Ser12=)
16g.56836659C>ACA395993112NUP93c.1841C>A (p.Ser614Tyr)
c.1472C>A (p.Ser491Tyr)
c.35C>A (p.Ser12Tyr)
16g.56836659C=CA2224333809NUP93c.1841C= (p.Ser614=)
c.1472C= (p.Ser491=)
c.35C= (p.Ser12=)
16g.56836659C>GCA281501812NUP93c.1841C>G (p.Ser614Cys)
c.1472C>G (p.Ser491Cys)
c.35C>G (p.Ser12Cys)
 dbSNP
16g.56836659C>TCA8068570NUP93c.1841C>T (p.Ser614Phe)
c.1472C>T (p.Ser491Phe)
c.35C>T (p.Ser12Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836660T>ACA495602502NUP93c.1842T>A (p.Ser614=)
c.1473T>A (p.Ser491=)
c.36T>A (p.Ser12=)
16g.56836660T>CCA495602503NUP93c.1842T>C (p.Ser614=)
c.1473T>C (p.Ser491=)
c.36T>C (p.Ser12=)
 dbSNP
16g.56836660T>GCA495602504NUP93c.1842T>G (p.Ser614=)
c.1473T>G (p.Ser491=)
c.36T>G (p.Ser12=)
16g.56836661G>ACA395993117NUP93c.1843G>A (p.Val615Met)
c.1474G>A (p.Val492Met)
c.37G>A (p.Val13Met)
 dbSNP gnomAD v2 gnomAD v4
16g.56836661G>CCA395993120NUP93c.1843G>C (p.Val615Leu)
c.1474G>C (p.Val492Leu)
c.37G>C (p.Val13Leu)
 dbSNP
16g.56836661G=CA2224333810NUP93c.1843G= (p.Val615=)
c.1474G= (p.Val492=)
c.37G= (p.Val13=)
16g.56836661G>TCA395993122NUP93c.1843G>T (p.Val615Leu)
c.1474G>T (p.Val492Leu)
c.37G>T (p.Val13Leu)
16g.56836662T>ACA395993124NUP93c.1844T>A (p.Val615Glu)
c.1475T>A (p.Val492Glu)
c.38T>A (p.Val13Glu)
16g.56836662T>CCA395993126NUP93c.1844T>C (p.Val615Ala)
c.1475T>C (p.Val492Ala)
c.38T>C (p.Val13Ala)
16g.56836662T>GCA395993128NUP93c.1844T>G (p.Val615Gly)
c.1475T>G (p.Val492Gly)
c.38T>G (p.Val13Gly)
16g.56836663G>ACA495602507NUP93c.1845G>A (p.Val615=)
c.1476G>A (p.Val492=)
c.39G>A (p.Val13=)
16g.56836663G>CCA495602506NUP93c.1845G>C (p.Val615=)
c.1476G>C (p.Val492=)
c.39G>C (p.Val13=)
16g.56836663G>TCA495602505NUP93c.1845G>T (p.Val615=)
c.1476G>T (p.Val492=)
c.39G>T (p.Val13=)
16g.56836664G>ACA395993131NUP93c.1846G>A (p.Ala616Thr)
c.1477G>A (p.Ala493Thr)
c.40G>A (p.Ala14Thr)
16g.56836664G>CCA395993133NUP93c.1846G>C (p.Ala616Pro)
c.1477G>C (p.Ala493Pro)
c.40G>C (p.Ala14Pro)
16g.56836664G>TCA395993136NUP93c.1846G>T (p.Ala616Ser)
c.1477G>T (p.Ala493Ser)
c.40G>T (p.Ala14Ser)
16g.56836665C>ACA395993138NUP93c.1847C>A (p.Ala616Glu)
c.1478C>A (p.Ala493Glu)
c.41C>A (p.Ala14Glu)
16g.56836665C>GCA395993139NUP93c.1847C>G (p.Ala616Gly)
c.1478C>G (p.Ala493Gly)
c.41C>G (p.Ala14Gly)
16g.56836665C>TCA395993142NUP93c.1847C>T (p.Ala616Val)
c.1478C>T (p.Ala493Val)
c.41C>T (p.Ala14Val)
16g.56836666A>CCA495602510NUP93c.1848A>C (p.Ala616=)
c.1479A>C (p.Ala493=)
c.42A>C (p.Ala14=)
16g.56836666A>GCA495602509NUP93c.1848A>G (p.Ala616=)
c.1479A>G (p.Ala493=)
c.42A>G (p.Ala14=)
16g.56836666A>TCA495602508NUP93c.1848A>T (p.Ala616=)
c.1479A>T (p.Ala493=)
c.42A>T (p.Ala14=)
16g.56836667G>ACA395993144NUP93c.1849G>A (p.Glu617Lys)
c.1480G>A (p.Glu494Lys)
c.43G>A (p.Glu15Lys)
16g.56836667G>CCA395993148NUP93c.1849G>C (p.Glu617Gln)
c.1480G>C (p.Glu494Gln)
c.43G>C (p.Glu15Gln)
16g.56836667G>TCA395993146NUP93c.1849G>T (p.Glu617Ter)
c.1480G>T (p.Glu494Ter)
c.43G>T (p.Glu15Ter)
16g.56836668A>CCA395993150NUP93c.1850A>C (p.Glu617Ala)
c.1481A>C (p.Glu494Ala)
c.44A>C (p.Glu15Ala)
16g.56836668A>GCA395993153NUP93c.1850A>G (p.Glu617Gly)
c.1481A>G (p.Glu494Gly)
c.44A>G (p.Glu15Gly)
16g.56836668A>TCA395993152NUP93c.1850A>T (p.Glu617Val)
c.1481A>T (p.Glu494Val)
c.44A>T (p.Glu15Val)
16g.56836669A>CCA395993155NUP93c.1851A>C (p.Glu617Asp)
c.1482A>C (p.Glu494Asp)
c.45A>C (p.Glu15Asp)
16g.56836669A>GCA495602511NUP93c.1851A>G (p.Glu617=)
c.1482A>G (p.Glu494=)
c.45A>G (p.Glu15=)
16g.56836669A>TCA395993157NUP93c.1851A>T (p.Glu617Asp)
c.1482A>T (p.Glu494Asp)
c.45A>T (p.Glu15Asp)
16g.56836670A>CCA395993161NUP93c.1852A>C (p.Asn618His)
c.1483A>C (p.Asn495His)
c.46A>C (p.Asn16His)
16g.56836670A>GCA395993163NUP93c.1852A>G (p.Asn618Asp)
c.1483A>G (p.Asn495Asp)
c.46A>G (p.Asn16Asp)
16g.56836670A>TCA395993166NUP93c.1852A>T (p.Asn618Tyr)
c.1483A>T (p.Asn495Tyr)
c.46A>T (p.Asn16Tyr)
16g.56836671A>CCA395993170NUP93c.1853A>C (p.Asn618Thr)
c.1484A>C (p.Asn495Thr)
c.47A>C (p.Asn16Thr)
16g.56836671A>GCA395993172NUP93c.1853A>G (p.Asn618Ser)
c.1484A>G (p.Asn495Ser)
c.47A>G (p.Asn16Ser)
16g.56836671A>TCA395993174NUP93c.1853A>T (p.Asn618Ile)
c.1484A>T (p.Asn495Ile)
c.47A>T (p.Asn16Ile)
16g.56836672T>ACA395993177NUP93c.1854T>A (p.Asn618Lys)
c.1485T>A (p.Asn495Lys)
c.48T>A (p.Asn16Lys)
16g.56836672T>CCA495602512NUP93c.1854T>C (p.Asn618=)
c.1485T>C (p.Asn495=)
c.48T>C (p.Asn16=)
16g.56836672T>GCA395993181NUP93c.1854T>G (p.Asn618Lys)
c.1485T>G (p.Asn495Lys)
c.48T>G (p.Asn16Lys)
16g.56836673A>CCA395993182NUP93c.1855A>C (p.Lys619Gln)
c.1486A>C (p.Lys496Gln)
c.49A>C (p.Lys17Gln)
16g.56836673A>GCA395993185NUP93c.1855A>G (p.Lys619Glu)
c.1486A>G (p.Lys496Glu)
c.49A>G (p.Lys17Glu)
16g.56836673A>TCA395993188NUP93c.1855A>T (p.Lys619Ter)
c.1486A>T (p.Lys496Ter)
c.49A>T (p.Lys17Ter)
16g.56836674A>CCA395993191NUP93c.1856A>C (p.Lys619Thr)
c.1487A>C (p.Lys496Thr)
c.50A>C (p.Lys17Thr)
16g.56836674A>GCA395993196NUP93c.1856A>G (p.Lys619Arg)
c.1487A>G (p.Lys496Arg)
c.50A>G (p.Lys17Arg)
16g.56836674A>TCA395993194NUP93c.1856A>T (p.Lys619Ile)
c.1487A>T (p.Lys496Ile)
c.50A>T (p.Lys17Ile)
16g.56836675A=CA2224333811NUP93c.1857A= (p.Lys619=)
c.1488A= (p.Lys496=)
c.51A= (p.Lys17=)
16g.56836675A>CCA395993199NUP93c.1857A>C (p.Lys619Asn)
c.1488A>C (p.Lys496Asn)
c.51A>C (p.Lys17Asn)
16g.56836675A>GCA281501830NUP93c.1857A>G (p.Lys619=)
c.1488A>G (p.Lys496=)
c.51A>G (p.Lys17=)
 dbSNP gnomAD v2 gnomAD v4
16g.56836675A>TCA395993201NUP93c.1857A>T (p.Lys619Asn)
c.1488A>T (p.Lys496Asn)
c.51A>T (p.Lys17Asn)
16g.56836676G>ACA395993204NUP93c.1858G>A (p.Gly620Arg)
c.1489G>A (p.Gly497Arg)
c.52G>A (p.Gly18Arg)
16g.56836676G>CCA395993205NUP93c.1858G>C (p.Gly620Arg)
c.1489G>C (p.Gly497Arg)
c.52G>C (p.Gly18Arg)
16g.56836676G>TCA395993206NUP93c.1858G>T (p.Gly620Ter)
c.1489G>T (p.Gly497Ter)
c.52G>T (p.Gly18Ter)
16g.56836677G>ACA395993207NUP93c.1859G>A (p.Gly620Glu)
c.1490G>A (p.Gly497Glu)
c.53G>A (p.Gly18Glu)
16g.56836677G>CCA395993208NUP93c.1859G>C (p.Gly620Ala)
c.1490G>C (p.Gly497Ala)
c.53G>C (p.Gly18Ala)
16g.56836677G>TCA395993210NUP93c.1859G>T (p.Gly620Val)
c.1490G>T (p.Gly497Val)
c.53G>T (p.Gly18Val)
16g.56836678A>CCA495602513NUP93c.1860A>C (p.Gly620=)
c.1491A>C (p.Gly497=)
c.54A>C (p.Gly18=)
16g.56836678A>GCA495602514NUP93c.1860A>G (p.Gly620=)
c.1491A>G (p.Gly497=)
c.54A>G (p.Gly18=)
16g.56836678A>TCA495602515NUP93c.1860A>T (p.Gly620=)
c.1491A>T (p.Gly497=)
c.54A>T (p.Gly18=)
16g.56836679C>ACA395993211NUP93c.1861C>A (p.Leu621Met)
c.1492C>A (p.Leu498Met)
c.55C>A (p.Leu19Met)
16g.56836679C>GCA395993213NUP93c.1861C>G (p.Leu621Val)
c.1492C>G (p.Leu498Val)
c.55C>G (p.Leu19Val)
16g.56836679C>TCA495602516NUP93c.1861C>T (p.Leu621=)
c.1492C>T (p.Leu498=)
c.55C>T (p.Leu19=)
 gnomAD v4
16g.56836680T>ACA395993221NUP93c.1862T>A (p.Leu621Gln)
c.1493T>A (p.Leu498Gln)
c.56T>A (p.Leu19Gln)
16g.56836680T>CCA395993218NUP93c.1862T>C (p.Leu621Pro)
c.1493T>C (p.Leu498Pro)
c.56T>C (p.Leu19Pro)
16g.56836680T>GCA395993216NUP93c.1862T>G (p.Leu621Arg)
c.1493T>G (p.Leu498Arg)
c.56T>G (p.Leu19Arg)
16g.56836681G>ACA495602517NUP93c.1863G>A (p.Leu621=)
c.1494G>A (p.Leu498=)
c.57G>A (p.Leu19=)
 gnomAD v4
16g.56836681G>CCA495602518NUP93c.1863G>C (p.Leu621=)
c.1494G>C (p.Leu498=)
c.57G>C (p.Leu19=)
 gnomAD v4
16g.56836681G>TCA495602519NUP93c.1863G>T (p.Leu621=)
c.1494G>T (p.Leu498=)
c.57G>T (p.Leu19=)
16g.56836682T>ACA395993224NUP93c.1864T>A (p.Phe622Ile)
c.1495T>A (p.Phe499Ile)
c.58T>A (p.Phe20Ile)
16g.56836682T>CCA395993226NUP93c.1864T>C (p.Phe622Leu)
c.1495T>C (p.Phe499Leu)
c.58T>C (p.Phe20Leu)
16g.56836682T>GCA395993228NUP93c.1864T>G (p.Phe622Val)
c.1495T>G (p.Phe499Val)
c.58T>G (p.Phe20Val)
16g.56836683T>ACA395993230NUP93c.1865T>A (p.Phe622Tyr)
c.1496T>A (p.Phe499Tyr)
c.59T>A (p.Phe20Tyr)
16g.56836683T>CCA395993232NUP93c.1865T>C (p.Phe622Ser)
c.1496T>C (p.Phe499Ser)
c.59T>C (p.Phe20Ser)
 dbSNP gnomAD v4
16g.56836683T>GCA395993235NUP93c.1865T>G (p.Phe622Cys)
c.1496T>G (p.Phe499Cys)
c.59T>G (p.Phe20Cys)
16g.56836683T=CA2224333812NUP93c.1865T= (p.Phe622=)
c.1496T= (p.Phe499=)
c.59T= (p.Phe20=)
16g.56836684T>ACA395993236NUP93c.1866T>A (p.Phe622Leu)
c.1497T>A (p.Phe499Leu)
c.60T>A (p.Phe20Leu)
16g.56836684T>CCA495602520NUP93c.1866T>C (p.Phe622=)
c.1497T>C (p.Phe499=)
c.60T>C (p.Phe20=)
16g.56836684T>GCA395993239NUP93c.1866T>G (p.Phe622Leu)
c.1497T>G (p.Phe499Leu)
c.60T>G (p.Phe20Leu)
16g.56836685G>ACA395993243NUP93c.1867G>A (p.Glu623Lys)
c.1498G>A (p.Glu500Lys)
c.61G>A (p.Glu21Lys)
16g.56836685G>CCA395993245NUP93c.1867G>C (p.Glu623Gln)
c.1498G>C (p.Glu500Gln)
c.61G>C (p.Glu21Gln)
16g.56836685G>TCA395993246NUP93c.1867G>T (p.Glu623Ter)
c.1498G>T (p.Glu500Ter)
c.61G>T (p.Glu21Ter)
 gnomAD v4
16g.56836686A>CCA395993249NUP93c.1868A>C (p.Glu623Ala)
c.1499A>C (p.Glu500Ala)
c.62A>C (p.Glu21Ala)
16g.56836686A>GCA395993251NUP93c.1868A>G (p.Glu623Gly)
c.1499A>G (p.Glu500Gly)
c.62A>G (p.Glu21Gly)
16g.56836686A>TCA395993255NUP93c.1868A>T (p.Glu623Val)
c.1499A>T (p.Glu500Val)
c.62A>T (p.Glu21Val)
16g.56836687A>CCA395993258NUP93c.1869A>C (p.Glu623Asp)
c.1500A>C (p.Glu500Asp)
c.63A>C (p.Glu21Asp)
16g.56836687A>GCA495602521NUP93c.1869A>G (p.Glu623=)
c.1500A>G (p.Glu500=)
c.63A>G (p.Glu21=)
16g.56836687A>TCA395993259NUP93c.1869A>T (p.Glu623Asp)
c.1500A>T (p.Glu500Asp)
c.63A>T (p.Glu21Asp)
16g.56836688G>ACA395993261NUP93c.1870G>A (p.Glu624Lys)
c.1501G>A (p.Glu501Lys)
c.64G>A (p.Glu22Lys)
 gnomAD v4
16g.56836688G>CCA395993264NUP93c.1870G>C (p.Glu624Gln)
c.1501G>C (p.Glu501Gln)
c.64G>C (p.Glu22Gln)
16g.56836688G>TCA395993266NUP93c.1870G>T (p.Glu624Ter)
c.1501G>T (p.Glu501Ter)
c.64G>T (p.Glu22Ter)
16g.56836689A>CCA395993270NUP93c.1871A>C (p.Glu624Ala)
c.1502A>C (p.Glu501Ala)
c.65A>C (p.Glu22Ala)
16g.56836689A>GCA395993272NUP93c.1871A>G (p.Glu624Gly)
c.1502A>G (p.Glu501Gly)
c.65A>G (p.Glu22Gly)
16g.56836689A>TCA395993274NUP93c.1871A>T (p.Glu624Val)
c.1502A>T (p.Glu501Val)
c.65A>T (p.Glu22Val)
 gnomAD v4
16g.56836690G>ACA281501834NUP93c.1872G>A (p.Glu624=)
c.1503G>A (p.Glu501=)
c.66G>A (p.Glu22=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56836690G>CCA395993278NUP93c.1872G>C (p.Glu624Asp)
c.1503G>C (p.Glu501Asp)
c.66G>C (p.Glu22Asp)
16g.56836690G=CA2224333813NUP93c.1872G= (p.Glu624=)
c.1503G= (p.Glu501=)
c.66G= (p.Glu22=)
16g.56836690G>TCA395993281NUP93c.1872G>T (p.Glu624Asp)
c.1503G>T (p.Glu501Asp)
c.66G>T (p.Glu22Asp)
16g.56836691G>ACA395993284NUP93c.1873G>A (p.Ala625Thr)
c.1504G>A (p.Ala502Thr)
c.67G>A (p.Ala23Thr)
16g.56836691G>CCA395993287NUP93c.1873G>C (p.Ala625Pro)
c.1504G>C (p.Ala502Pro)
c.67G>C (p.Ala23Pro)
16g.56836691G=CA2224333814NUP93c.1873G= (p.Ala625=)
c.1504G= (p.Ala502=)
c.67G= (p.Ala23=)
16g.56836691G>TCA8068571NUP93c.1873G>T (p.Ala625Ser)
c.1504G>T (p.Ala502Ser)
c.67G>T (p.Ala23Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836692C>ACA395993296NUP93c.1874C>A (p.Ala625Glu)
c.1505C>A (p.Ala502Glu)
c.68C>A (p.Ala23Glu)
16g.56836692C>GCA395993291NUP93c.1874C>G (p.Ala625Gly)
c.1505C>G (p.Ala502Gly)
c.68C>G (p.Ala23Gly)
 gnomAD v4
16g.56836692C>TCA395993294NUP93c.1874C>T (p.Ala625Val)
c.1505C>T (p.Ala502Val)
c.68C>T (p.Ala23Val)
16g.56836693A=CA2224333815NUP93c.1875A= (p.Ala625=)
c.1506A= (p.Ala502=)
c.69A= (p.Ala23=)
16g.56836693A>CCA495602522NUP93c.1875A>C (p.Ala625=)
c.1506A>C (p.Ala502=)
c.69A>C (p.Ala23=)
16g.56836693A>GCA495602523NUP93c.1875A>G (p.Ala625=)
c.1506A>G (p.Ala502=)
c.69A>G (p.Ala23=)
 dbSNP gnomAD v4
16g.56836693A>TCA495602524NUP93c.1875A>T (p.Ala625=)
c.1506A>T (p.Ala502=)
c.69A>T (p.Ala23=)
16g.56836694G>ACA8068572NUP93c.1876G>A (p.Ala626Thr)
c.1507G>A (p.Ala503Thr)
c.70G>A (p.Ala24Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836694G>CCA395993304NUP93c.1876G>C (p.Ala626Pro)
c.1507G>C (p.Ala503Pro)
c.70G>C (p.Ala24Pro)
16g.56836694G=CA2224333816NUP93c.1876G= (p.Ala626=)
c.1507G= (p.Ala503=)
c.70G= (p.Ala24=)
16g.56836694G>TCA395993301NUP93c.1876G>T (p.Ala626Ser)
c.1507G>T (p.Ala503Ser)
c.70G>T (p.Ala24Ser)
16g.56836695C>ACA395993307NUP93c.1877C>A (p.Ala626Glu)
c.1508C>A (p.Ala503Glu)
c.71C>A (p.Ala24Glu)
16g.56836695C>GCA395993311NUP93c.1877C>G (p.Ala626Gly)
c.1508C>G (p.Ala503Gly)
c.71C>G (p.Ala24Gly)
16g.56836695C>TCA395993310NUP93c.1877C>T (p.Ala626Val)
c.1508C>T (p.Ala503Val)
c.71C>T (p.Ala24Val)
16g.56836696A>CCA495602525NUP93c.1878A>C (p.Ala626=)
c.1509A>C (p.Ala503=)
c.72A>C (p.Ala24=)
16g.56836696A>GCA495602526NUP93c.1878A>G (p.Ala626=)
c.1509A>G (p.Ala503=)
c.72A>G (p.Ala24=)
16g.56836696A>TCA495602527NUP93c.1878A>T (p.Ala626=)
c.1509A>T (p.Ala503=)
c.72A>T (p.Ala24=)
16g.56836696_56836714delinsAAAGCTGTATGACCTTGCCCA2224333817NUP93c.1878_1896delinsAAAGCTGTATGACCTTGCC (p.Ala626=)
c.1509_1527delinsAAAGCTGTATGACCTTGCC (p.Ala503=)
c.72_90delinsAAAGCTGTATGACCTTGCC (p.Ala24=)
16g.56836697A=CA2224333818NUP93c.1879A= (p.Lys627=)
c.1510A= (p.Lys504=)
c.73A= (p.Lys25=)
16g.56836697A>CCA395993315NUP93c.1879A>C (p.Lys627Gln)
c.1510A>C (p.Lys504Gln)
c.73A>C (p.Lys25Gln)
 dbSNP
16g.56836697A>GCA395993317NUP93c.1879A>G (p.Lys627Glu)
c.1510A>G (p.Lys504Glu)
c.73A>G (p.Lys25Glu)
16g.56836697A>TCA395993318NUP93c.1879A>T (p.Lys627Ter)
c.1510A>T (p.Lys504Ter)
c.73A>T (p.Lys25Ter)
16g.56836700_56836717delCA8068573NUP93c.1882_1899del (p.Leu628_Lys633del)
c.1513_1530del (p.Leu505_Lys510del)
c.76_93del (p.Leu26_Lys31del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836698A>CCA395993319NUP93c.1880A>C (p.Lys627Thr)
c.1511A>C (p.Lys504Thr)
c.74A>C (p.Lys25Thr)
16g.56836698A>GCA395993320NUP93c.1880A>G (p.Lys627Arg)
c.1511A>G (p.Lys504Arg)
c.74A>G (p.Lys25Arg)
16g.56836698A>TCA395993322NUP93c.1880A>T (p.Lys627Met)
c.1511A>T (p.Lys504Met)
c.74A>T (p.Lys25Met)
16g.56836699G>ACA495602528NUP93c.1881G>A (p.Lys627=)
c.1512G>A (p.Lys504=)
c.75G>A (p.Lys25=)
16g.56836699G>CCA395993323NUP93c.1881G>C (p.Lys627Asn)
c.1512G>C (p.Lys504Asn)
c.75G>C (p.Lys25Asn)
16g.56836699G>TCA395993324NUP93c.1881G>T (p.Lys627Asn)
c.1512G>T (p.Lys504Asn)
c.75G>T (p.Lys25Asn)
16g.56836700C>ACA395993326NUP93c.1882C>A (p.Leu628Met)
c.1513C>A (p.Leu505Met)
c.76C>A (p.Leu26Met)
16g.56836700C>GCA395993329NUP93c.1882C>G (p.Leu628Val)
c.1513C>G (p.Leu505Val)
c.76C>G (p.Leu26Val)
16g.56836700C>TCA495602529NUP93c.1882C>T (p.Leu628=)
c.1513C>T (p.Leu505=)
c.76C>T (p.Leu26=)
16g.56836701T>ACA395993334NUP93c.1883T>A (p.Leu628Gln)
c.1514T>A (p.Leu505Gln)
c.77T>A (p.Leu26Gln)
16g.56836701T>CCA395993332NUP93c.1883T>C (p.Leu628Pro)
c.1514T>C (p.Leu505Pro)
c.77T>C (p.Leu26Pro)
 gnomAD v4
16g.56836701T>GCA395993331NUP93c.1883T>G (p.Leu628Arg)
c.1514T>G (p.Leu505Arg)
c.77T>G (p.Leu26Arg)
16g.56836702G>ACA495602530NUP93c.1884G>A (p.Leu628=)
c.1515G>A (p.Leu505=)
c.78G>A (p.Leu26=)
16g.56836702G>CCA495602531NUP93c.1884G>C (p.Leu628=)
c.1515G>C (p.Leu505=)
c.78G>C (p.Leu26=)
16g.56836702G=CA2224333819NUP93c.1884G= (p.Leu628=)
c.1515G= (p.Leu505=)
c.78G= (p.Leu26=)
16g.56836702G>TCA495602532NUP93c.1884G>T (p.Leu628=)
c.1515G>T (p.Leu505=)
c.78G>T (p.Leu26=)
 dbSNP gnomAD v2 gnomAD v4
16g.56836703T>ACA395993337NUP93c.1885T>A (p.Tyr629Asn)
c.1516T>A (p.Tyr506Asn)
c.79T>A (p.Tyr27Asn)
16g.56836703T>CCA395993338NUP93c.1885T>C (p.Tyr629His)
c.1516T>C (p.Tyr506His)
c.79T>C (p.Tyr27His)
16g.56836703T>GCA395993339NUP93c.1885T>G (p.Tyr629Asp)
c.1516T>G (p.Tyr506Asp)
c.79T>G (p.Tyr27Asp)
16g.56836704A=CA2224333820NUP93c.1886A= (p.Tyr629=)
c.1517A= (p.Tyr506=)
c.80A= (p.Tyr27=)
16g.56836704A>CCA395993341NUP93c.1886A>C (p.Tyr629Ser)
c.1517A>C (p.Tyr506Ser)
c.80A>C (p.Tyr27Ser)
16g.56836704A>GCA357852NUP93c.1886A>G (p.Tyr629Cys)
c.1517A>G (p.Tyr506Cys)
c.80A>G (p.Tyr27Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836704A>TCA395993344NUP93c.1886A>T (p.Tyr629Phe)
c.1517A>T (p.Tyr506Phe)
c.80A>T (p.Tyr27Phe)
16g.56836705T>ACA395993345NUP93c.1887T>A (p.Tyr629Ter)
c.1518T>A (p.Tyr506Ter)
c.81T>A (p.Tyr27Ter)
16g.56836705T>CCA495602533NUP93c.1887T>C (p.Tyr629=)
c.1518T>C (p.Tyr506=)
c.81T>C (p.Tyr27=)
16g.56836705T>GCA395993346NUP93c.1887T>G (p.Tyr629Ter)
c.1518T>G (p.Tyr506Ter)
c.81T>G (p.Tyr27Ter)
16g.56836706G>ACA395993347NUP93c.1888G>A (p.Asp630Asn)
c.1519G>A (p.Asp507Asn)
c.82G>A (p.Asp28Asn)
 COSMIC
16g.56836706G>CCA395993349NUP93c.1888G>C (p.Asp630His)
c.1519G>C (p.Asp507His)
c.82G>C (p.Asp28His)
16g.56836706G=CA2224333821NUP93c.1888G= (p.Asp630=)
c.1519G= (p.Asp507=)
c.82G= (p.Asp28=)
16g.56836706G>TCA395993350NUP93c.1888G>T (p.Asp630Tyr)
c.1519G>T (p.Asp507Tyr)
c.82G>T (p.Asp28Tyr)
16g.56836707A=CA2224333822NUP93c.1889A= (p.Asp630=)
c.1520A= (p.Asp507=)
c.83A= (p.Asp28=)
16g.56836707A>CCA395993354NUP93c.1889A>C (p.Asp630Ala)
c.1520A>C (p.Asp507Ala)
c.83A>C (p.Asp28Ala)
16g.56836707A>GCA395993356NUP93c.1889A>G (p.Asp630Gly)
c.1520A>G (p.Asp507Gly)
c.83A>G (p.Asp28Gly)
16g.56836707A>TCA395993353NUP93c.1889A>T (p.Asp630Val)
c.1520A>T (p.Asp507Val)
c.83A>T (p.Asp28Val)
 dbSNP gnomAD v3 gnomAD v4
16g.56836707dupCA8068574NUP93c.1889dup (p.Asp630GlufsTer7)
c.1520dup (p.Asp507GlufsTer7)
c.83dup (p.Asp28GlufsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836708C>ACA395993358NUP93c.1890C>A (p.Asp630Glu)
c.1521C>A (p.Asp507Glu)
c.84C>A (p.Asp28Glu)
16g.56836708C=CA2224333823NUP93c.1890C= (p.Asp630=)
c.1521C= (p.Asp507=)
c.84C= (p.Asp28=)
16g.56836708C>GCA395993360NUP93c.1890C>G (p.Asp630Glu)
c.1521C>G (p.Asp507Glu)
c.84C>G (p.Asp28Glu)
16g.56836708C>TCA8068575NUP93c.1890C>T (p.Asp630=)
c.1521C>T (p.Asp507=)
c.84C>T (p.Asp28=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836709C>ACA395993362NUP93c.1891C>A (p.Leu631Ile)
c.1522C>A (p.Leu508Ile)
c.85C>A (p.Leu29Ile)
 COSMIC
16g.56836709C>GCA395993364NUP93c.1891C>G (p.Leu631Val)
c.1522C>G (p.Leu508Val)
c.85C>G (p.Leu29Val)
16g.56836709C>TCA395993366NUP93c.1891C>T (p.Leu631Phe)
c.1522C>T (p.Leu508Phe)
c.85C>T (p.Leu29Phe)
16g.56836710T>ACA395993368NUP93c.1892T>A (p.Leu631His)
c.1523T>A (p.Leu508His)
c.86T>A (p.Leu29His)
16g.56836710T>CCA395993369NUP93c.1892T>C (p.Leu631Pro)
c.1523T>C (p.Leu508Pro)
c.86T>C (p.Leu29Pro)
16g.56836710T>GCA395993371NUP93c.1892T>G (p.Leu631Arg)
c.1523T>G (p.Leu508Arg)
c.86T>G (p.Leu29Arg)
16g.56836711T>ACA495602536NUP93c.1893T>A (p.Leu631=)
c.1524T>A (p.Leu508=)
c.87T>A (p.Leu29=)
16g.56836711T>CCA495602534NUP93c.1893T>C (p.Leu631=)
c.1524T>C (p.Leu508=)
c.87T>C (p.Leu29=)
16g.56836711T>GCA495602535NUP93c.1893T>G (p.Leu631=)
c.1524T>G (p.Leu508=)
c.87T>G (p.Leu29=)
16g.56836712G>ACA395993373NUP93c.1894G>A (p.Ala632Thr)
c.1525G>A (p.Ala509Thr)
c.88G>A (p.Ala30Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.56836712G>CCA395993377NUP93c.1894G>C (p.Ala632Pro)
c.1525G>C (p.Ala509Pro)
c.88G>C (p.Ala30Pro)
16g.56836712G=CA2224333824NUP93c.1894G= (p.Ala632=)
c.1525G= (p.Ala509=)
c.88G= (p.Ala30=)
16g.56836712G>TCA395993379NUP93c.1894G>T (p.Ala632Ser)
c.1525G>T (p.Ala509Ser)
c.88G>T (p.Ala30Ser)
16g.56836713C>ACA395993382NUP93c.1895C>A (p.Ala632Asp)
c.1526C>A (p.Ala509Asp)
c.89C>A (p.Ala30Asp)
 gnomAD v4
16g.56836713C=CA2224333825NUP93c.1895C= (p.Ala632=)
c.1526C= (p.Ala509=)
c.89C= (p.Ala30=)
16g.56836713C>GCA395993384NUP93c.1895C>G (p.Ala632Gly)
c.1526C>G (p.Ala509Gly)
c.89C>G (p.Ala30Gly)
 dbSNP gnomAD v4
16g.56836713C>TCA395993383NUP93c.1895C>T (p.Ala632Val)
c.1526C>T (p.Ala509Val)
c.89C>T (p.Ala30Val)
 gnomAD v4
16g.56836714C>ACA495602537NUP93c.1896C>A (p.Ala632=)
c.1527C>A (p.Ala509=)
c.90C>A (p.Ala30=)
 gnomAD v4
16g.56836714C>GCA495602538NUP93c.1896C>G (p.Ala632=)
c.1527C>G (p.Ala509=)
c.90C>G (p.Ala30=)
16g.56836714C>TCA495602539NUP93c.1896C>T (p.Ala632=)
c.1527C>T (p.Ala509=)
c.90C>T (p.Ala30=)
16g.56836715A=CA2224333826NUP93c.1897A= (p.Lys633=)
c.1528A= (p.Lys510=)
c.91A= (p.Lys31=)
16g.56836715A>CCA8068576NUP93c.1897A>C (p.Lys633Gln)
c.1528A>C (p.Lys510Gln)
c.91A>C (p.Lys31Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56836715A>GCA395993387NUP93c.1897A>G (p.Lys633Glu)
c.1528A>G (p.Lys510Glu)
c.91A>G (p.Lys31Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.56836715A>TCA395993389NUP93c.1897A>T (p.Lys633Ter)
c.1528A>T (p.Lys510Ter)
c.91A>T (p.Lys31Ter)
16g.56836716A=CA2224333827NUP93c.1898A= (p.Lys633=)
c.1529A= (p.Lys510=)
c.92A= (p.Lys31=)
16g.56836716A>CCA395993390NUP93c.1898A>C (p.Lys633Thr)
c.1529A>C (p.Lys510Thr)
c.92A>C (p.Lys31Thr)
 gnomAD v4
16g.56836716A>GCA395993392NUP93c.1898A>G (p.Lys633Arg)
c.1529A>G (p.Lys510Arg)
c.92A>G (p.Lys31Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56836716A>TCA395993393NUP93c.1898A>T (p.Lys633Met)
c.1529A>T (p.Lys510Met)
c.92A>T (p.Lys31Met)
16g.56836717G>ACA495602540NUP93c.1899G>A (p.Lys633=)
c.1530G>A (p.Lys510=)
c.93G>A (p.Lys31=)
16g.56836717G>CCA395993394NUP93c.1899G>C (p.Lys633Asn)
c.1530G>C (p.Lys510Asn)
c.93G>C (p.Lys31Asn)
16g.56836717G>TCA395993395NUP93c.1899G>T (p.Lys633Asn)
c.1530G>T (p.Lys510Asn)
c.93G>T (p.Lys31Asn)
16g.56836718G>ACA395993400NUP93c.1899+1G>A (n.1899+1G>A)
c.1530+1G>A (n.1530+1G>A)
c.93+1G>A (n.93+1G>A)
16g.56836718G>CCA395993401NUP93c.1899+1G>C (n.1899+1G>C)
c.1530+1G>C (n.1530+1G>C)
c.93+1G>C (n.93+1G>C)
16g.56836718G>TCA395993403NUP93c.1899+1G>T (n.1899+1G>T)
c.1530+1G>T (n.1530+1G>T)
c.93+1G>T (n.93+1G>T)
16g.56836719T>ACA395993408NUP93c.1899+2T>A (n.1899+2T>A)
c.1530+2T>A (n.1530+2T>A)
c.93+2T>A (n.93+2T>A)
16g.56836719T>CCA395993406NUP93c.1899+2T>C (n.1899+2T>C)
c.1530+2T>C (n.1530+2T>C)
c.93+2T>C (n.93+2T>C)
16g.56836719T>GCA395993405NUP93c.1899+2T>G (n.1899+2T>G)
c.1530+2T>G (n.1530+2T>G)
c.93+2T>G (n.93+2T>G)
16g.56836721A=CA2224333828NUP93c.1899+4A= (n.1899+4A=)
c.1530+4A= (n.1530+4A=)
c.93+4A= (n.93+4A=)
16g.56836721A>GCA8068577NUP93c.1899+4A>G (n.1899+4A>G)
c.1530+4A>G (n.1530+4A>G)
c.93+4A>G (n.93+4A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56836722A=CA2224333829NUP93c.1899+5A= (n.1899+5A=)
c.1530+5A= (n.1530+5A=)
c.93+5A= (n.93+5A=)
16g.56836722A>CCA8068578NUP93c.1899+5A>C (n.1899+5A>C)
c.1530+5A>C (n.1530+5A>C)
c.93+5A>C (n.93+5A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56836722A>GCA2633367367NUP93c.1899+5A>G (n.1899+5A>G)
c.1530+5A>G (n.1530+5A>G)
c.93+5A>G (n.93+5A>G)
 gnomAD v4
16g.56836722_56836724delinsAGTCA2224333830NUP93c.1899+5_1899+7delinsAGT (n.1899+5_1899+7delinsAGT)
c.1530+5_1530+7delinsAGT (n.1530+5_1530+7delinsAGT)
c.93+5_93+7delinsAGT (n.93+5_93+7delinsAGT)
16g.56836723delCA2807158975NUP93c.1899+6del (n.1899+6del)
c.1530+6del (n.1530+6del)
c.93+6del (n.93+6del)
16g.56836723G>CCA622339536NUP93c.1899+6G>C (n.1899+6G>C)
c.1530+6G>C (n.1530+6G>C)
c.93+6G>C (n.93+6G>C)
 dbSNP gnomAD v2 gnomAD v4
16g.56836723G=CA2224333831NUP93c.1899+6G= (n.1899+6G=)
c.1530+6G= (n.1530+6G=)
c.93+6G= (n.93+6G=)
16g.56836723G>TCA722010240NUP93c.1899+6G>T (n.1899+6G>T)
c.1530+6G>T (n.1530+6G>T)
c.93+6G>T (n.93+6G>T)
 dbSNP gnomAD v3 gnomAD v4
16g.56836726_56836727delCA281501857NUP93c.1899+9_1899+10del (n.1899+9_1899+10del)
c.1530+9_1530+10del (n.1530+9_1530+10del)
c.93+9_93+10del (n.93+9_93+10del)
 dbSNP gnomAD v4
16g.56836724T>CCA2633367368NUP93c.1899+7T>C (n.1899+7T>C)
c.1530+7T>C (n.1530+7T>C)
c.93+7T>C (n.93+7T>C)
 gnomAD v4

Number of alleles fetched