Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56836581T>ACA281501795NUP93c.1783-20T>A (n.1783-20T>A)
c.1414-20T>A (n.1414-20T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56836581T=CA2224333780NUP93c.1783-20T= (n.1783-20T=)
c.1414-20T= (n.1414-20T=)
16g.56836582C>TCA2633367353NUP93c.1783-19C>T (n.1783-19C>T)
c.1414-19C>T (n.1414-19C>T)
 gnomAD v4
16g.56836583C>ACA2633367354NUP93c.1783-18C>A (n.1783-18C>A)
c.1414-18C>A (n.1414-18C>A)
 gnomAD v4
16g.56836583C=CA2224333781NUP93c.1783-18C= (n.1783-18C=)
c.1414-18C= (n.1414-18C=)
16g.56836583C>TCA2224333782NUP93c.1783-18C>T (n.1783-18C>T)
c.1414-18C>T (n.1414-18C>T)
 dbSNP
16g.56836584A>GCA2576001369NUP93c.1783-17A>G (n.1783-17A>G)
c.1414-17A>G (n.1414-17A>G)
 gnomAD v4
16g.56836587A>GCA2633367355NUP93c.1783-14A>G (n.1783-14A>G)
c.1414-14A>G (n.1414-14A>G)
 gnomAD v4
16g.56836590T>CCA8068564NUP93c.1783-11T>C (n.1783-11T>C)
c.1414-11T>C (n.1414-11T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836590T=CA2224333783NUP93c.1783-11T= (n.1783-11T=)
c.1414-11T= (n.1414-11T=)
16g.56836591G>CCA622339512NUP93c.1783-10G>C (n.1783-10G>C)
c.1414-10G>C (n.1414-10G>C)
 dbSNP gnomAD v2 gnomAD v4
16g.56836591G=CA2224333784NUP93c.1783-10G= (n.1783-10G=)
c.1414-10G= (n.1414-10G=)
16g.56836591G>TCA622339514NUP93c.1783-10G>T (n.1783-10G>T)
c.1414-10G>T (n.1414-10G>T)
 dbSNP gnomAD v2 gnomAD v4
16g.56836592T>ACA2576001370NUP93c.1783-9T>A (n.1783-9T>A)
c.1414-9T>A (n.1414-9T>A)
16g.56836592T>CCA2633367356NUP93c.1783-9T>C (n.1783-9T>C)
c.1414-9T>C (n.1414-9T>C)
 gnomAD v4
16g.56836593C>ACA2633367357NUP93c.1783-8C>A (n.1783-8C>A)
c.1414-8C>A (n.1414-8C>A)
 gnomAD v4
16g.56836593C=CA2224333785NUP93c.1783-8C= (n.1783-8C=)
c.1414-8C= (n.1414-8C=)
16g.56836593C>TCA8068565NUP93c.1783-8C>T (n.1783-8C>T)
c.1414-8C>T (n.1414-8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836594T>ACA2633367358NUP93c.1783-7T>A (n.1783-7T>A)
c.1414-7T>A (n.1414-7T>A)
 gnomAD v4
16g.56836595T>CCA622339515NUP93c.1783-6T>C (n.1783-6T>C)
c.1414-6T>C (n.1414-6T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56836595T>GCA622339516NUP93c.1783-6T>G (n.1783-6T>G)
c.1414-6T>G (n.1414-6T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56836595T=CA2224333786NUP93c.1783-6T= (n.1783-6T=)
c.1414-6T= (n.1414-6T=)
16g.56836596G>CCA2633367359NUP93c.1783-5G>C (n.1783-5G>C)
c.1414-5G>C (n.1414-5G>C)
 gnomAD v4
16g.56836597T>ACA2576001371NUP93c.1783-4T>A (n.1783-4T>A)
c.1414-4T>A (n.1414-4T>A)
16g.56836597T>CCA622339517NUP93c.1783-4T>C (n.1783-4T>C)
c.1414-4T>C (n.1414-4T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56836597T=CA2224333787NUP93c.1783-4T= (n.1783-4T=)
c.1414-4T= (n.1414-4T=)
16g.56836598C>ACA2633367360NUP93c.1783-3C>A (n.1783-3C>A)
c.1414-3C>A (n.1414-3C>A)
 gnomAD v4
16g.56836598C=CA2224333788NUP93c.1783-3C= (n.1783-3C=)
c.1414-3C= (n.1414-3C=)
16g.56836598C>TCA281501799NUP93c.1783-3C>T (n.1783-3C>T)
c.1414-3C>T (n.1414-3C>T)
 dbSNP gnomAD v4
16g.56836599A>CCA395992806NUP93c.1783-2A>C (n.1783-2A>C)
c.1414-2A>C (n.1414-2A>C)
16g.56836599A>GCA395992808NUP93c.1783-2A>G (n.1783-2A>G)
c.1414-2A>G (n.1414-2A>G)
16g.56836599A>TCA395992809NUP93c.1783-2A>T (n.1783-2A>T)
c.1414-2A>T (n.1414-2A>T)
16g.56836600G>ACA395992811NUP93c.1783-1G>A (n.1783-1G>A)
c.1414-1G>A (n.1414-1G>A)
 gnomAD v4
16g.56836600G>CCA395992813NUP93c.1783-1G>C (n.1783-1G>C)
c.1414-1G>C (n.1414-1G>C)
16g.56836600G>TCA395992819NUP93c.1783-1G>T (n.1783-1G>T)
c.1414-1G>T (n.1414-1G>T)
16g.56836601C>ACA395992821NUP93c.1783C>A (p.Pro595Thr)
c.1414C>A (p.Pro472Thr)
 gnomAD v4
16g.56836601C>GCA395992823NUP93c.1783C>G (p.Pro595Ala)
c.1414C>G (p.Pro472Ala)
16g.56836601C>TCA395992825NUP93c.1783C>T (p.Pro595Ser)
c.1414C>T (p.Pro472Ser)
 gnomAD v4 COSMIC
16g.56836602C>ACA395992827NUP93c.1784C>A (p.Pro595His)
c.1415C>A (p.Pro472His)
 gnomAD v4
16g.56836602C>GCA395992828NUP93c.1784C>G (p.Pro595Arg)
c.1415C>G (p.Pro472Arg)
16g.56836602C>TCA395992830NUP93c.1784C>T (p.Pro595Leu)
c.1415C>T (p.Pro472Leu)
 gnomAD v4
16g.56836603T>ACA495602371NUP93c.1785T>A (p.Pro595=)
c.1416T>A (p.Pro472=)
 gnomAD v4
16g.56836603T>CCA495602374NUP93c.1785T>C (p.Pro595=)
c.1416T>C (p.Pro472=)
 gnomAD v4
16g.56836603T>GCA495602376NUP93c.1785T>G (p.Pro595=)
c.1416T>G (p.Pro472=)
16g.56836604G>ACA395992834NUP93c.1786G>A (p.Gly596Arg)
c.1417G>A (p.Gly473Arg)
16g.56836604G>CCA395992832NUP93c.1786G>C (p.Gly596Arg)
c.1417G>C (p.Gly473Arg)
16g.56836604G>TCA395992833NUP93c.1786G>T (p.Gly596Ter)
c.1417G>T (p.Gly473Ter)
16g.56836605G>ACA395992835NUP93c.1787G>A (p.Gly596Glu)
c.1418G>A (p.Gly473Glu)
16g.56836605G>CCA395992837NUP93c.1787G>C (p.Gly596Ala)
c.1418G>C (p.Gly473Ala)
16g.56836605G=CA2224333789NUP93c.1787G= (p.Gly596=)
c.1418G= (p.Gly473=)
16g.56836605G>TCA395992839NUP93c.1787G>T (p.Gly596Val)
c.1418G>T (p.Gly473Val)
 dbSNP
16g.56836606A>CCA495602388NUP93c.1788A>C (p.Gly596=)
c.1419A>C (p.Gly473=)
16g.56836606A>GCA495602390NUP93c.1788A>G (p.Gly596=)
c.1419A>G (p.Gly473=)
16g.56836606A>TCA495602392NUP93c.1788A>T (p.Gly596=)
c.1419A>T (p.Gly473=)
16g.56836607G>ACA395992841NUP93c.1789G>A (p.Val597Ile)
c.1420G>A (p.Val474Ile)
 ClinVar
16g.56836607G>CCA395992842NUP93c.1789G>C (p.Val597Leu)
c.1420G>C (p.Val474Leu)
16g.56836607G>TCA395992844NUP93c.1789G>T (p.Val597Phe)
c.1420G>T (p.Val474Phe)
16g.56836608T>ACA395992846NUP93c.1790T>A (p.Val597Asp)
c.1421T>A (p.Val474Asp)
16g.56836608T>CCA395992847NUP93c.1790T>C (p.Val597Ala)
c.1421T>C (p.Val474Ala)
16g.56836608T>GCA395992848NUP93c.1790T>G (p.Val597Gly)
c.1421T>G (p.Val474Gly)
16g.56836609C>ACA495602404NUP93c.1791C>A (p.Val597=)
c.1422C>A (p.Val474=)
 gnomAD v4
16g.56836609C>GCA495602410NUP93c.1791C>G (p.Val597=)
c.1422C>G (p.Val474=)
16g.56836609C>TCA495602407NUP93c.1791C>T (p.Val597=)
c.1422C>T (p.Val474=)
16g.56836610A=CA2224333790NUP93c.1792A= (p.Ile598=)
c.1423A= (p.Ile475=)
16g.56836610A>CCA395992849NUP93c.1792A>C (p.Ile598Leu)
c.1423A>C (p.Ile475Leu)
16g.56836610A>GCA395992850NUP93c.1792A>G (p.Ile598Val)
c.1423A>G (p.Ile475Val)
 dbSNP gnomAD v4
16g.56836610A>TCA395992852NUP93c.1792A>T (p.Ile598Leu)
c.1423A>T (p.Ile475Leu)
16g.56836611T>ACA395992856NUP93c.1793T>A (p.Ile598Lys)
c.1424T>A (p.Ile475Lys)
16g.56836611T>CCA395992858NUP93c.1793T>C (p.Ile598Thr)
c.1424T>C (p.Ile475Thr)
 gnomAD v4
16g.56836611T>GCA395992855NUP93c.1793T>G (p.Ile598Arg)
c.1424T>G (p.Ile475Arg)
 gnomAD v4
16g.56836612A>CCA495602421NUP93c.1794A>C (p.Ile598=)
c.1425A>C (p.Ile475=)
16g.56836612A>GCA395992859NUP93c.1794A>G (p.Ile598Met)
c.1425A>G (p.Ile475Met)
16g.56836612A>TCA495602424NUP93c.1794A>T (p.Ile598=)
c.1425A>T (p.Ile475=)
16g.56836613G>ACA395992861NUP93c.1795G>A (p.Asp599Asn)
c.1426G>A (p.Asp476Asn)
16g.56836613G>CCA395992868NUP93c.1795G>C (p.Asp599His)
c.1426G>C (p.Asp476His)
16g.56836613G=CA2224333791NUP93c.1795G= (p.Asp599=)
c.1426G= (p.Asp476=)
16g.56836613G>TCA395992869NUP93c.1795G>T (p.Asp599Tyr)
c.1426G>T (p.Asp476Tyr)
 dbSNP gnomAD v3 gnomAD v4
16g.56836614A=CA2224333792NUP93c.1796A= (p.Asp599=)
c.1427A= (p.Asp476=)
16g.56836614A>CCA395992871NUP93c.1796A>C (p.Asp599Ala)
c.1427A>C (p.Asp476Ala)
16g.56836614A>GCA395992873NUP93c.1796A>G (p.Asp599Gly)
c.1427A>G (p.Asp476Gly)
 dbSNP gnomAD v3 gnomAD v4
16g.56836614A>TCA395992874NUP93c.1796A>T (p.Asp599Val)
c.1427A>T (p.Asp476Val)
16g.56836615T>ACA395992875NUP93c.1797T>A (p.Asp599Glu)
c.1428T>A (p.Asp476Glu)
16g.56836615T>CCA495602438NUP93c.1797T>C (p.Asp599=)
c.1428T>C (p.Asp476=)
16g.56836615T>GCA395992876NUP93c.1797T>G (p.Asp599Glu)
c.1428T>G (p.Asp476Glu)
16g.56836616A=CA2224333793NUP93c.1798A= (p.Lys600=)
c.1429A= (p.Lys477=)
16g.56836616A>CCA395992878NUP93c.1798A>C (p.Lys600Gln)
c.1429A>C (p.Lys477Gln)
16g.56836616A>GCA395992880NUP93c.1798A>G (p.Lys600Glu)
c.1429A>G (p.Lys477Glu)
 dbSNP
16g.56836616A>TCA395992882NUP93c.1798A>T (p.Lys600Ter)
c.1429A>T (p.Lys477Ter)
 gnomAD v4
16g.56836617A>CCA395992885NUP93c.1799A>C (p.Lys600Thr)
c.1430A>C (p.Lys477Thr)
16g.56836617A>GCA395992884NUP93c.1799A>G (p.Lys600Arg)
c.1430A>G (p.Lys477Arg)
16g.56836617A>TCA395992883NUP93c.1799A>T (p.Lys600Met)
c.1430A>T (p.Lys477Met)
16g.56836618G>ACA495602452NUP93c.1800G>A (p.Lys600=)
c.1431G>A (p.Lys477=)
 dbSNP gnomAD v2 gnomAD v4
16g.56836618G>CCA395992886NUP93c.1800G>C (p.Lys600Asn)
c.1431G>C (p.Lys477Asn)
16g.56836618G=CA2224333794NUP93c.1800G= (p.Lys600=)
c.1431G= (p.Lys477=)
16g.56836618G>TCA395992888NUP93c.1800G>T (p.Lys600Asn)
c.1431G>T (p.Lys477Asn)
16g.56836619T>ACA395992890NUP93c.1801T>A (p.Phe601Ile)
c.1432T>A (p.Phe478Ile)
16g.56836619T>CCA395992892NUP93c.1801T>C (p.Phe601Leu)
c.1432T>C (p.Phe478Leu)
16g.56836619T>GCA395992893NUP93c.1801T>G (p.Phe601Val)
c.1432T>G (p.Phe478Val)
16g.56836620T>ACA395992894NUP93c.1802T>A (p.Phe601Tyr)
c.1433T>A (p.Phe478Tyr)
16g.56836620T>CCA395992896NUP93c.1802T>C (p.Phe601Ser)
c.1433T>C (p.Phe478Ser)
16g.56836620T>GCA395992898NUP93c.1802T>G (p.Phe601Cys)
c.1433T>G (p.Phe478Cys)
16g.56836621T>ACA395992900NUP93c.1803T>A (p.Phe601Leu)
c.1434T>A (p.Phe478Leu)
16g.56836621T>CCA495602468NUP93c.1803T>C (p.Phe601=)
c.1434T>C (p.Phe478=)
 gnomAD v4
16g.56836621T>GCA395992901NUP93c.1803T>G (p.Phe601Leu)
c.1434T>G (p.Phe478Leu)
16g.56836622A=CA2224333795NUP93c.1804A= (p.Thr602=)
c.1435A= (p.Thr479=)
16g.56836622A>CCA395992904NUP93c.1804A>C (p.Thr602Pro)
c.1435A>C (p.Thr479Pro)
16g.56836622A>GCA395992905NUP93c.1804A>G (p.Thr602Ala)
c.1435A>G (p.Thr479Ala)
 gnomAD v4
16g.56836622A>TCA8068566NUP93c.1804A>T (p.Thr602Ser)
c.1435A>T (p.Thr479Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836623C>ACA395992910NUP93c.1805C>A (p.Thr602Asn)
c.1436C>A (p.Thr479Asn)
16g.56836623C>GCA395992911NUP93c.1805C>G (p.Thr602Ser)
c.1436C>G (p.Thr479Ser)
16g.56836623C>TCA395992908NUP93c.1805C>T (p.Thr602Ile)
c.1436C>T (p.Thr479Ile)
 gnomAD v4
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=)

Number of alleles fetched