Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56833202_56833211delinsTCCTCTCTCCCA2224332172NUP93c.1346-13_1346-4delinsTCCTCTCTCC (n.1346-13_1346-4delinsTCCTCTCTCC)
c.977-13_977-4delinsTCCTCTCTCC (n.977-13_977-4delinsTCCTCTCTCC)
n.588-13_588-4delinsTCCTCTCTCC
16g.56833204_56833212delCA977660830NUP93c.1346-11_1346-3del (n.1346-11_1346-3del)
c.977-11_977-3del (n.977-11_977-3del)
n.588-11_588-3del
 dbSNP gnomAD v3 gnomAD v4
16g.56833209_56833210dupCA8068407NUP93c.1346-6_1346-5dup (n.1346-6_1346-5dup)
c.977-6_977-5dup (n.977-6_977-5dup)
n.588-6_588-5dup
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833209_56833210delinsTCCA2224332181NUP93c.1346-6_1346-5delinsTC (n.1346-6_1346-5delinsTC)
c.977-6_977-5delinsTC (n.977-6_977-5delinsTC)
n.588-6_588-5delinsTC
16g.56833210C=CA2224332183NUP93c.1346-5C= (n.1346-5C=)
c.977-5C= (n.977-5C=)
n.588-5C=
16g.56833210C>GCA8068411NUP93c.1346-5C>G (n.1346-5C>G)
c.977-5C>G (n.977-5C>G)
n.588-5C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833212delCA919713870NUP93c.1346-3del (n.1346-3del)
c.977-3del (n.977-3del)
n.588-3del
 dbSNP gnomAD v3 gnomAD v4
16g.56833211C=CA2224332184NUP93c.1346-4C= (n.1346-4C=)
c.977-4C= (n.977-4C=)
n.588-4C=
16g.56833211C>GCA2224332185NUP93c.1346-4C>G (n.1346-4C>G)
c.977-4C>G (n.977-4C>G)
n.588-4C>G
 dbSNP
16g.56833211C>TCA2224332186NUP93c.1346-4C>T (n.1346-4C>T)
c.977-4C>T (n.977-4C>T)
n.588-4C>T
 dbSNP
16g.56833212C=CA2224332187NUP93c.1346-3C= (n.1346-3C=)
c.977-3C= (n.977-3C=)
n.588-3C=
16g.56833212C>TCA2224332188NUP93c.1346-3C>T (n.1346-3C>T)
c.977-3C>T (n.977-3C>T)
n.588-3C>T
 dbSNP gnomAD v4
16g.56833213A=CA2224332189NUP93c.1346-2A= (n.1346-2A=)
c.977-2A= (n.977-2A=)
n.588-2A=
16g.56833213A>CCA395989591NUP93c.1346-2A>C (n.1346-2A>C)
c.977-2A>C (n.977-2A>C)
n.588-2A>C
16g.56833213A>GCA395989589NUP93c.1346-2A>G (n.1346-2A>G)
c.977-2A>G (n.977-2A>G)
n.588-2A>G
 gnomAD v4
16g.56833213A>TCA395989587NUP93c.1346-2A>T (n.1346-2A>T)
c.977-2A>T (n.977-2A>T)
n.588-2A>T
16g.56833213_56833214insCTTTACCA722009501NUP93c.1346-2_1346-1insCTTTAC (n.1346-2_1346-1insCTTTAC)
c.977-2_977-1insCTTTAC (n.977-2_977-1insCTTTAC)
n.588-2_588-1insCTTTAC
 dbSNP
16g.56833214G>ACA395989594NUP93c.1346-1G>A (n.1346-1G>A)
c.977-1G>A (n.977-1G>A)
n.588-1G>A
 dbSNP gnomAD v2 gnomAD v4
16g.56833214G>CCA395989596NUP93c.1346-1G>C (n.1346-1G>C)
c.977-1G>C (n.977-1G>C)
n.588-1G>C
16g.56833214G=CA2224332190NUP93c.1346-1G= (n.1346-1G=)
c.977-1G= (n.977-1G=)
n.588-1G=
16g.56833214G>TCA395989598NUP93c.1346-1G>T (n.1346-1G>T)
c.977-1G>T (n.977-1G>T)
n.588-1G>T
16g.56833215G>ACA395989600NUP93c.1346G>A (p.Gly449Asp)
c.977G>A (p.Gly326Asp)
n.588G>A
16g.56833215G>CCA395989602NUP93c.1346G>C (p.Gly449Ala)
c.977G>C (p.Gly326Ala)
n.588G>C
16g.56833215G>TCA395989604NUP93c.1346G>T (p.Gly449Val)
c.977G>T (p.Gly326Val)
n.588G>T
16g.56833216C>ACA495600232NUP93c.1347C>A (p.Gly449=)
c.978C>A (p.Gly326=)
n.589C>A
 gnomAD v4
16g.56833216C=CA2224332191NUP93c.1347C= (p.Gly449=)
c.978C= (p.Gly326=)
n.589C=
16g.56833216C>GCA495600235NUP93c.1347C>G (p.Gly449=)
c.978C>G (p.Gly326=)
n.589C>G
16g.56833216C>TCA8068412NUP93c.1347C>T (p.Gly449=)
c.978C>T (p.Gly326=)
n.589C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833217G>ACA8068413NUP93c.1348G>A (p.Glu450Lys)
c.979G>A (p.Glu327Lys)
n.590G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833217G>CCA395989610NUP93c.1348G>C (p.Glu450Gln)
c.979G>C (p.Glu327Gln)
n.590G>C
16g.56833217G=CA2224332192NUP93c.1348G= (p.Glu450=)
c.979G= (p.Glu327=)
n.590G=
16g.56833217G>TCA395989612NUP93c.1348G>T (p.Glu450Ter)
c.979G>T (p.Glu327Ter)
n.590G>T
16g.56833218A>CCA395989613NUP93c.1349A>C (p.Glu450Ala)
c.980A>C (p.Glu327Ala)
n.591A>C
16g.56833218A>GCA395989615NUP93c.1349A>G (p.Glu450Gly)
c.980A>G (p.Glu327Gly)
n.591A>G
16g.56833218A>TCA395989618NUP93c.1349A>T (p.Glu450Val)
c.980A>T (p.Glu327Val)
n.591A>T
16g.56833219G>ACA495600250NUP93c.1350G>A (p.Glu450=)
c.981G>A (p.Glu327=)
n.592G>A
16g.56833219G>CCA395989625NUP93c.1350G>C (p.Glu450Asp)
c.981G>C (p.Glu327Asp)
n.592G>C
16g.56833219G>TCA395989622NUP93c.1350G>T (p.Glu450Asp)
c.981G>T (p.Glu327Asp)
n.592G>T
16g.56833220T>ACA395989627NUP93c.1351T>A (p.Ser451Thr)
c.982T>A (p.Ser328Thr)
n.593T>A
16g.56833220T>CCA395989629NUP93c.1351T>C (p.Ser451Pro)
c.982T>C (p.Ser328Pro)
n.593T>C
16g.56833220T>GCA395989631NUP93c.1351T>G (p.Ser451Ala)
c.982T>G (p.Ser328Ala)
n.593T>G
16g.56833221C>ACA395989633NUP93c.1352C>A (p.Ser451Tyr)
c.983C>A (p.Ser328Tyr)
n.594C>A
16g.56833221C>GCA395989635NUP93c.1352C>G (p.Ser451Cys)
c.983C>G (p.Ser328Cys)
n.594C>G
16g.56833221C>TCA395989637NUP93c.1352C>T (p.Ser451Phe)
c.983C>T (p.Ser328Phe)
n.594C>T
16g.56833223delCA2633366258NUP93c.1354del (p.His452ThrfsTer4)
c.985del (p.His329ThrfsTer4)
n.596del
 gnomAD v4
16g.56833222C>ACA495600258NUP93c.1353C>A (p.Ser451=)
c.984C>A (p.Ser328=)
n.595C>A
16g.56833222C=CA2224332193NUP93c.1353C= (p.Ser451=)
c.984C= (p.Ser328=)
n.595C=
16g.56833222C>GCA8068414NUP93c.1353C>G (p.Ser451=)
c.984C>G (p.Ser328=)
n.595C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833222C>TCA495600262NUP93c.1353C>T (p.Ser451=)
c.984C>T (p.Ser328=)
n.595C>T
 dbSNP gnomAD v3 gnomAD v4
16g.56833223C>ACA395989641NUP93c.1354C>A (p.His452Asn)
c.985C>A (p.His329Asn)
n.596C>A
16g.56833223C>GCA395989644NUP93c.1354C>G (p.His452Asp)
c.985C>G (p.His329Asp)
n.596C>G
16g.56833223C>TCA395989646NUP93c.1354C>T (p.His452Tyr)
c.985C>T (p.His329Tyr)
n.596C>T
16g.56833224A>CCA395989649NUP93c.1355A>C (p.His452Pro)
c.986A>C (p.His329Pro)
n.597A>C
16g.56833224A>GCA395989651NUP93c.1355A>G (p.His452Arg)
c.986A>G (p.His329Arg)
n.597A>G
16g.56833224A>TCA395989652NUP93c.1355A>T (p.His452Leu)
c.986A>T (p.His329Leu)
n.597A>T
16g.56833225C>ACA395989655NUP93c.1356C>A (p.His452Gln)
c.987C>A (p.His329Gln)
n.598C>A
16g.56833225C>GCA395989656NUP93c.1356C>G (p.His452Gln)
c.987C>G (p.His329Gln)
n.598C>G
16g.56833225C>TCA495600274NUP93c.1356C>T (p.His452=)
c.987C>T (p.His329=)
n.598C>T
16g.56833225_56833226delinsCTCA2224332194NUP93c.1356_1357delinsCT (p.His452=)
c.987_988delinsCT (p.His329=)
n.598_599delinsCT
16g.56833226T>ACA395989660NUP93c.1357T>A (p.Phe453Ile)
c.988T>A (p.Phe330Ile)
n.599T>A
16g.56833226T>CCA395989664NUP93c.1357T>C (p.Phe453Leu)
c.988T>C (p.Phe330Leu)
n.599T>C
16g.56833226T>GCA395989661NUP93c.1357T>G (p.Phe453Val)
c.988T>G (p.Phe330Val)
n.599T>G
16g.56833228delCA2224332195NUP93c.1359del (p.Phe453LeufsTer3)
c.990del (p.Phe330LeufsTer3)
n.601del
 dbSNP
16g.56833227T>ACA395989668NUP93c.1358T>A (p.Phe453Tyr)
c.989T>A (p.Phe330Tyr)
n.600T>A
16g.56833227T>CCA395989669NUP93c.1358T>C (p.Phe453Ser)
c.989T>C (p.Phe330Ser)
n.600T>C
 gnomAD v4
16g.56833227T>GCA395989670NUP93c.1358T>G (p.Phe453Cys)
c.989T>G (p.Phe330Cys)
n.600T>G
 gnomAD v4
16g.56833228T>ACA395989673NUP93c.1359T>A (p.Phe453Leu)
c.990T>A (p.Phe330Leu)
n.601T>A
16g.56833228T>CCA8068415NUP93c.1359T>C (p.Phe453=)
c.990T>C (p.Phe330=)
n.601T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833228T>GCA395989676NUP93c.1359T>G (p.Phe453Leu)
c.990T>G (p.Phe330Leu)
n.601T>G
16g.56833228T=CA2224332196NUP93c.1359T= (p.Phe453=)
c.990T= (p.Phe330=)
n.601T=
16g.56833229A>CCA395989680NUP93c.1360A>C (p.Thr454Pro)
c.991A>C (p.Thr331Pro)
n.602A>C
16g.56833229A>GCA395989682NUP93c.1360A>G (p.Thr454Ala)
c.991A>G (p.Thr331Ala)
n.602A>G
16g.56833229A>TCA395989684NUP93c.1360A>T (p.Thr454Ser)
c.991A>T (p.Thr331Ser)
n.602A>T
16g.56833230C>ACA395989687NUP93c.1361C>A (p.Thr454Lys)
c.992C>A (p.Thr331Lys)
n.603C>A
16g.56833230C=CA2224332197NUP93c.1361C= (p.Thr454=)
c.992C= (p.Thr331=)
n.603C=
16g.56833230C>GCA395989689NUP93c.1361C>G (p.Thr454Arg)
c.992C>G (p.Thr331Arg)
n.603C>G
16g.56833230C>TCA8068416NUP93c.1361C>T (p.Thr454Met)
c.992C>T (p.Thr331Met)
n.603C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833231G>ACA8068417NUP93c.1362G>A (p.Thr454=)
c.993G>A (p.Thr331=)
n.604G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833231G>CCA495600282NUP93c.1362G>C (p.Thr454=)
c.993G>C (p.Thr331=)
n.604G>C
16g.56833231G=CA2224332198NUP93c.1362G= (p.Thr454=)
c.993G= (p.Thr331=)
n.604G=
16g.56833231G>TCA495600280NUP93c.1362G>T (p.Thr454=)
c.993G>T (p.Thr331=)
n.604G>T
16g.56833232G>ACA395989691NUP93c.1363G>A (p.Val455Met)
c.994G>A (p.Val332Met)
n.605G>A
 dbSNP gnomAD v2 gnomAD v4
16g.56833232G>CCA395989694NUP93c.1363G>C (p.Val455Leu)
c.994G>C (p.Val332Leu)
n.605G>C
16g.56833232G=CA2224332199NUP93c.1363G= (p.Val455=)
c.994G= (p.Val332=)
n.605G=
16g.56833232G>TCA281497128NUP93c.1363G>T (p.Val455Leu)
c.994G>T (p.Val332Leu)
n.605G>T
 dbSNP
16g.56833233T>ACA395989697NUP93c.1364T>A (p.Val455Glu)
c.995T>A (p.Val332Glu)
n.606T>A
 COSMIC
16g.56833233T>CCA395989700NUP93c.1364T>C (p.Val455Ala)
c.995T>C (p.Val332Ala)
n.606T>C
16g.56833233T>GCA395989702NUP93c.1364T>G (p.Val455Gly)
c.995T>G (p.Val332Gly)
n.606T>G
 ClinVar
16g.56833234G>ACA495600285NUP93c.1365G>A (p.Val455=)
c.996G>A (p.Val332=)
n.607G>A
 gnomAD v4
16g.56833234G>CCA495600286NUP93c.1365G>C (p.Val455=)
c.996G>C (p.Val332=)
n.607G>C
16g.56833234G=CA2224332200NUP93c.1365G= (p.Val455=)
c.996G= (p.Val332=)
n.607G=
16g.56833234G>TCA495600287NUP93c.1365G>T (p.Val455=)
c.996G>T (p.Val332=)
n.607G>T
 dbSNP gnomAD v2 gnomAD v4
16g.56833235A>CCA395989706NUP93c.1366A>C (p.Asn456His)
c.997A>C (p.Asn333His)
n.608A>C
 gnomAD v4
16g.56833235A>GCA395989708NUP93c.1366A>G (p.Asn456Asp)
c.997A>G (p.Asn333Asp)
n.608A>G
16g.56833235A>TCA395989710NUP93c.1366A>T (p.Asn456Tyr)
c.997A>T (p.Asn333Tyr)
n.608A>T
16g.56833236A=CA2224332201NUP93c.1367A= (p.Asn456=)
c.998A= (p.Asn333=)
n.609A=
16g.56833236A>CCA395989712NUP93c.1367A>C (p.Asn456Thr)
c.998A>C (p.Asn333Thr)
n.609A>C
16g.56833236A>GCA395989714NUP93c.1367A>G (p.Asn456Ser)
c.998A>G (p.Asn333Ser)
n.609A>G
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.56833236A>TCA395989717NUP93c.1367A>T (p.Asn456Ile)
c.998A>T (p.Asn333Ile)
n.609A>T
16g.56833237C>ACA395989721NUP93c.1368C>A (p.Asn456Lys)
c.999C>A (p.Asn333Lys)
n.610C>A
16g.56833237C=CA2224332202NUP93c.1368C= (p.Asn456=)
c.999C= (p.Asn333=)
n.610C=
16g.56833237C>GCA395989723NUP93c.1368C>G (p.Asn456Lys)
c.999C>G (p.Asn333Lys)
n.610C>G
16g.56833237C>TCA8068418NUP93c.1368C>T (p.Asn456=)
c.999C>T (p.Asn333=)
n.610C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833238C>ACA395989726NUP93c.1369C>A (p.Gln457Lys)
c.1000C>A (p.Gln334Lys)
n.611C>A
16g.56833238C>GCA395989728NUP93c.1369C>G (p.Gln457Glu)
c.1000C>G (p.Gln334Glu)
n.611C>G
 gnomAD v4
16g.56833238C>TCA395989730NUP93c.1369C>T (p.Gln457Ter)
c.1000C>T (p.Gln334Ter)
n.611C>T
 gnomAD v4
16g.56833239A>CCA395989732NUP93c.1370A>C (p.Gln457Pro)
c.1001A>C (p.Gln334Pro)
n.612A>C
16g.56833239A>GCA395989734NUP93c.1370A>G (p.Gln457Arg)
c.1001A>G (p.Gln334Arg)
n.612A>G
16g.56833239A>TCA395989736NUP93c.1370A>T (p.Gln457Leu)
c.1001A>T (p.Gln334Leu)
n.612A>T
16g.56833240G>ACA495600293NUP93c.1371G>A (p.Gln457=)
c.1002G>A (p.Gln334=)
n.613G>A
 dbSNP gnomAD v2 gnomAD v4
16g.56833240G>CCA395989739NUP93c.1371G>C (p.Gln457His)
c.1002G>C (p.Gln334His)
n.613G>C
16g.56833240G=CA2224332203NUP93c.1371G= (p.Gln457=)
c.1002G= (p.Gln334=)
n.613G=
16g.56833240G>TCA395989740NUP93c.1371G>T (p.Gln457His)
c.1002G>T (p.Gln334His)
n.613G>T
16g.56833241C>ACA395989743NUP93c.1372C>A (p.Gln458Lys)
c.1003C>A (p.Gln335Lys)
n.614C>A
16g.56833241C=CA2224332204NUP93c.1372C= (p.Gln458=)
c.1003C= (p.Gln335=)
n.614C=
16g.56833241C>GCA395989745NUP93c.1372C>G (p.Gln458Glu)
c.1003C>G (p.Gln335Glu)
n.614C>G
 dbSNP
16g.56833241C>TCA395989746NUP93c.1372C>T (p.Gln458Ter)
c.1003C>T (p.Gln335Ter)
n.614C>T
16g.56833242A>CCA395989748NUP93c.1373A>C (p.Gln458Pro)
c.1004A>C (p.Gln335Pro)
n.615A>C
16g.56833242A>GCA395989750NUP93c.1373A>G (p.Gln458Arg)
c.1004A>G (p.Gln335Arg)
n.615A>G
16g.56833242A>TCA395989752NUP93c.1373A>T (p.Gln458Leu)
c.1004A>T (p.Gln335Leu)
n.615A>T
16g.56833243A=CA2224332205NUP93c.1374A= (p.Gln458=)
c.1005A= (p.Gln335=)
n.616A=
16g.56833243A>CCA395989755NUP93c.1374A>C (p.Gln458His)
c.1005A>C (p.Gln335His)
n.616A>C
 dbSNP gnomAD v3 gnomAD v4
16g.56833243A>GCA495600299NUP93c.1374A>G (p.Gln458=)
c.1005A>G (p.Gln335=)
n.616A>G
 dbSNP gnomAD v3 gnomAD v4
16g.56833243A>TCA395989757NUP93c.1374A>T (p.Gln458His)
c.1005A>T (p.Gln335His)
n.616A>T
16g.56833244C>ACA395989760NUP93c.1375C>A (p.Pro459Thr)
c.1006C>A (p.Pro336Thr)
n.617C>A
16g.56833244C>GCA395989762NUP93c.1375C>G (p.Pro459Ala)
c.1006C>G (p.Pro336Ala)
n.617C>G
16g.56833244C>TCA395989764NUP93c.1375C>T (p.Pro459Ser)
c.1006C>T (p.Pro336Ser)
n.617C>T
16g.56833245C>ACA395989767NUP93c.1376C>A (p.Pro459His)
c.1007C>A (p.Pro336His)
n.618C>A
16g.56833245C=CA2224332206NUP93c.1376C= (p.Pro459=)
c.1007C= (p.Pro336=)
n.618C=
16g.56833245C>GCA395989769NUP93c.1376C>G (p.Pro459Arg)
c.1007C>G (p.Pro336Arg)
n.618C>G
 dbSNP
16g.56833245C>TCA395989771NUP93c.1376C>T (p.Pro459Leu)
c.1007C>T (p.Pro336Leu)
n.618C>T
 dbSNP COSMIC
16g.56833246C>ACA495600301NUP93c.1377C>A (p.Pro459=)
c.1008C>A (p.Pro336=)
n.619C>A
 gnomAD v4
16g.56833246C=CA2224332207NUP93c.1377C= (p.Pro459=)
c.1008C= (p.Pro336=)
n.619C=
16g.56833246C>GCA495600300NUP93c.1377C>G (p.Pro459=)
c.1008C>G (p.Pro336=)
n.619C>G
16g.56833246C>TCA8068419NUP93c.1377C>T (p.Pro459=)
c.1008C>T (p.Pro336=)
n.619C>T
 dbSNP ExAC gnomAD v2
16g.56833247T>ACA395989776NUP93c.1378T>A (p.Phe460Ile)
c.1009T>A (p.Phe337Ile)
n.620T>A
16g.56833247T>CCA395989778NUP93c.1378T>C (p.Phe460Leu)
c.1009T>C (p.Phe337Leu)
n.620T>C
 gnomAD v4
16g.56833247T>GCA395989779NUP93c.1378T>G (p.Phe460Val)
c.1009T>G (p.Phe337Val)
n.620T>G
16g.56833248T>ACA395989782NUP93c.1379T>A (p.Phe460Tyr)
c.1010T>A (p.Phe337Tyr)
n.621T>A
16g.56833248T>CCA395989784NUP93c.1379T>C (p.Phe460Ser)
c.1010T>C (p.Phe337Ser)
n.621T>C
16g.56833248T>GCA395989786NUP93c.1379T>G (p.Phe460Cys)
c.1010T>G (p.Phe337Cys)
n.621T>G
16g.56833249C>ACA395989790NUP93c.1380C>A (p.Phe460Leu)
c.1011C>A (p.Phe337Leu)
n.622C>A
16g.56833249C>GCA395989788NUP93c.1380C>G (p.Phe460Leu)
c.1011C>G (p.Phe337Leu)
n.622C>G
16g.56833249C>TCA495600302NUP93c.1380C>T (p.Phe460=)
c.1011C>T (p.Phe337=)
n.622C>T
16g.56833250C>ACA395989791NUP93c.1381C>A (p.Leu461Ile)
c.1012C>A (p.Leu338Ile)
n.623C>A
16g.56833250C=CA2224332208NUP93c.1381C= (p.Leu461=)
c.1012C= (p.Leu338=)
n.623C=
16g.56833250C>GCA395989792NUP93c.1381C>G (p.Leu461Val)
c.1012C>G (p.Leu338Val)
n.623C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56833250C>TCA281497144NUP93c.1381C>T (p.Leu461Phe)
c.1012C>T (p.Leu338Phe)
n.623C>T
 dbSNP gnomAD v2
16g.56833251T>ACA395989794NUP93c.1382T>A (p.Leu461His)
c.1013T>A (p.Leu338His)
n.624T>A
16g.56833251T>CCA395989796NUP93c.1382T>C (p.Leu461Pro)
c.1013T>C (p.Leu338Pro)
n.624T>C
16g.56833251T>GCA395989799NUP93c.1382T>G (p.Leu461Arg)
c.1013T>G (p.Leu338Arg)
n.624T>G
16g.56833252C>ACA495600303NUP93c.1383C>A (p.Leu461=)
c.1014C>A (p.Leu338=)
n.625C>A
16g.56833252C>GCA495600304NUP93c.1383C>G (p.Leu461=)
c.1014C>G (p.Leu338=)
n.625C>G
16g.56833252C>TCA495600305NUP93c.1383C>T (p.Leu461=)
c.1014C>T (p.Leu338=)
n.625C>T
16g.56833253T>ACA395989801NUP93c.1384T>A (p.Tyr462Asn)
c.1015T>A (p.Tyr339Asn)
n.626T>A
16g.56833253T>CCA395989803NUP93c.1384T>C (p.Tyr462His)
c.1015T>C (p.Tyr339His)
n.626T>C
16g.56833253T>GCA395989806NUP93c.1384T>G (p.Tyr462Asp)
c.1015T>G (p.Tyr339Asp)
n.626T>G
16g.56833254A=CA2224332209NUP93c.1385A= (p.Tyr462=)
c.1016A= (p.Tyr339=)
n.627A=
16g.56833254A>CCA395989813NUP93c.1385A>C (p.Tyr462Ser)
c.1016A>C (p.Tyr339Ser)
n.627A>C
 gnomAD v4
16g.56833254A>GCA395989809NUP93c.1385A>G (p.Tyr462Cys)
c.1016A>G (p.Tyr339Cys)
n.627A>G
 dbSNP gnomAD v2 gnomAD v4
16g.56833254A>TCA395989811NUP93c.1385A>T (p.Tyr462Phe)
c.1016A>T (p.Tyr339Phe)
n.627A>T
16g.56833255C>ACA395989816NUP93c.1386C>A (p.Tyr462Ter)
c.1017C>A (p.Tyr339Ter)
n.628C>A
16g.56833255C=CA2224332210NUP93c.1386C= (p.Tyr462=)
c.1017C= (p.Tyr339=)
n.628C=
16g.56833255C>GCA395989818NUP93c.1386C>G (p.Tyr462Ter)
c.1017C>G (p.Tyr339Ter)
n.628C>G
16g.56833255C>TCA495600306NUP93c.1386C>T (p.Tyr462=)
c.1017C>T (p.Tyr339=)
n.628C>T
 dbSNP gnomAD v3 gnomAD v4
16g.56833256T>ACA395989821NUP93c.1387T>A (p.Phe463Ile)
c.1018T>A (p.Phe340Ile)
n.629T>A
16g.56833256T>CCA395989822NUP93c.1387T>C (p.Phe463Leu)
c.1018T>C (p.Phe340Leu)
n.629T>C
16g.56833256T>GCA395989825NUP93c.1387T>G (p.Phe463Val)
c.1018T>G (p.Phe340Val)
n.629T>G
 gnomAD v4
16g.56833257T>ACA395989832NUP93c.1388T>A (p.Phe463Tyr)
c.1019T>A (p.Phe340Tyr)
n.630T>A
16g.56833257T>CCA395989828NUP93c.1388T>C (p.Phe463Ser)
c.1019T>C (p.Phe340Ser)
n.630T>C
16g.56833257T>GCA395989830NUP93c.1388T>G (p.Phe463Cys)
c.1019T>G (p.Phe340Cys)
n.630T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56833257T=CA2224332211NUP93c.1388T= (p.Phe463=)
c.1019T= (p.Phe340=)
n.630T=
16g.56833258C>ACA395989835NUP93c.1389C>A (p.Phe463Leu)
c.1020C>A (p.Phe340Leu)
n.631C>A
16g.56833258C>GCA395989837NUP93c.1389C>G (p.Phe463Leu)
c.1020C>G (p.Phe340Leu)
n.631C>G
16g.56833258C>TCA495600307NUP93c.1389C>T (p.Phe463=)
c.1020C>T (p.Phe340=)
n.631C>T
 COSMIC
16g.56833259C>ACA395989840NUP93c.1390C>A (p.Gln464Lys)
c.1021C>A (p.Gln341Lys)
n.632C>A
 gnomAD v4
16g.56833259C=CA2224332212NUP93c.1390C= (p.Gln464=)
c.1021C= (p.Gln341=)
n.632C=
16g.56833259C>GCA395989842NUP93c.1390C>G (p.Gln464Glu)
c.1021C>G (p.Gln341Glu)
n.632C>G
 dbSNP gnomAD v2 gnomAD v4
16g.56833259C>TCA395989843NUP93c.1390C>T (p.Gln464Ter)
c.1021C>T (p.Gln341Ter)
n.632C>T
 gnomAD v4
16g.56833260A>CCA395989846NUP93c.1391A>C (p.Gln464Pro)
c.1022A>C (p.Gln341Pro)
n.633A>C
16g.56833260A>GCA395989850NUP93c.1391A>G (p.Gln464Arg)
c.1022A>G (p.Gln341Arg)
n.633A>G
16g.56833260A>TCA395989852NUP93c.1391A>T (p.Gln464Leu)
c.1022A>T (p.Gln341Leu)
n.633A>T
16g.56833261A>CCA395989854NUP93c.1392A>C (p.Gln464His)
c.1023A>C (p.Gln341His)
n.634A>C
16g.56833261A>GCA495600308NUP93c.1392A>G (p.Gln464=)
c.1023A>G (p.Gln341=)
n.634A>G
16g.56833261A>TCA395989856NUP93c.1392A>T (p.Gln464His)
c.1023A>T (p.Gln341His)
n.634A>T
16g.56833262G>ACA395989858NUP93c.1393G>A (p.Val465Ile)
c.1024G>A (p.Val342Ile)
n.635G>A
 dbSNP gnomAD v2 gnomAD v4
16g.56833262G>CCA395989861NUP93c.1393G>C (p.Val465Leu)
c.1024G>C (p.Val342Leu)
n.635G>C
16g.56833262G=CA2224332213NUP93c.1393G= (p.Val465=)
c.1024G= (p.Val342=)
n.635G=
16g.56833262G>TCA395989862NUP93c.1393G>T (p.Val465Phe)
c.1024G>T (p.Val342Phe)
n.635G>T
16g.56833263T>ACA395989870NUP93c.1394T>A (p.Val465Asp)
c.1025T>A (p.Val342Asp)
n.636T>A
16g.56833263T>CCA395989865NUP93c.1394T>C (p.Val465Ala)
c.1025T>C (p.Val342Ala)
n.636T>C
 gnomAD v4
16g.56833263T>GCA395989867NUP93c.1394T>G (p.Val465Gly)
c.1025T>G (p.Val342Gly)
n.636T>G
16g.56833264C>ACA495600309NUP93c.1395C>A (p.Val465=)
c.1026C>A (p.Val342=)
n.637C>A
16g.56833264C>GCA495600310NUP93c.1395C>G (p.Val465=)
c.1026C>G (p.Val342=)
n.637C>G
16g.56833264C>TCA495600311NUP93c.1395C>T (p.Val465=)
c.1026C>T (p.Val342=)
n.637C>T
 gnomAD v4
16g.56833265C>ACA395989873NUP93c.1396C>A (p.Leu466Met)
c.1027C>A (p.Leu343Met)
n.638C>A
16g.56833265C=CA2224332214NUP93c.1396C= (p.Leu466=)
c.1027C= (p.Leu343=)
n.638C=
16g.56833265C>GCA395989875NUP93c.1396C>G (p.Leu466Val)
c.1027C>G (p.Leu343Val)
n.638C>G
16g.56833265C>TCA495600312NUP93c.1396C>T (p.Leu466=)
c.1027C>T (p.Leu343=)
n.638C>T
 dbSNP gnomAD v2
16g.56833266T>ACA395989877NUP93c.1397T>A (p.Leu466Gln)
c.1028T>A (p.Leu343Gln)
n.639T>A
16g.56833266T>CCA395989879NUP93c.1397T>C (p.Leu466Pro)
c.1028T>C (p.Leu343Pro)
n.639T>C
16g.56833266T>GCA395989882NUP93c.1397T>G (p.Leu466Arg)
c.1028T>G (p.Leu343Arg)
n.639T>G
16g.56833267G>ACA495600315NUP93c.1398G>A (p.Leu466=)
c.1029G>A (p.Leu343=)
n.640G>A
16g.56833267G>CCA495600314NUP93c.1398G>C (p.Leu466=)
c.1029G>C (p.Leu343=)
n.640G>C
16g.56833267G>TCA495600313NUP93c.1398G>T (p.Leu466=)
c.1029G>T (p.Leu343=)
n.640G>T
16g.56833268T>ACA395989884NUP93c.1399T>A (p.Phe467Ile)
c.1030T>A (p.Phe344Ile)
n.641T>A
16g.56833268T>CCA8068420NUP93c.1399T>C (p.Phe467Leu)
c.1030T>C (p.Phe344Leu)
n.641T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833268T>GCA395989887NUP93c.1399T>G (p.Phe467Val)
c.1030T>G (p.Phe344Val)
n.641T>G
16g.56833268T=CA2224332215NUP93c.1399T= (p.Phe467=)
c.1030T= (p.Phe344=)
n.641T=
16g.56833269T>ACA395989890NUP93c.1400T>A (p.Phe467Tyr)
c.1031T>A (p.Phe344Tyr)
n.642T>A
16g.56833269T>CCA395989893NUP93c.1400T>C (p.Phe467Ser)
c.1031T>C (p.Phe344Ser)
n.642T>C
16g.56833269T>GCA395989895NUP93c.1400T>G (p.Phe467Cys)
c.1031T>G (p.Phe344Cys)
n.642T>G
16g.56833270C>ACA395989896NUP93c.1401C>A (p.Phe467Leu)
c.1032C>A (p.Phe344Leu)
n.643C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56833270C=CA2224332216NUP93c.1401C= (p.Phe467=)
c.1032C= (p.Phe344=)
n.643C=
16g.56833270C>GCA395989897NUP93c.1401C>G (p.Phe467Leu)
c.1032C>G (p.Phe344Leu)
n.643C>G
16g.56833270C>TCA8068421NUP93c.1401C>T (p.Phe467=)
c.1032C>T (p.Phe344=)
n.643C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833271C>ACA395989903NUP93c.1402C>A (p.Leu468Met)
c.1033C>A (p.Leu345Met)
n.644C>A
16g.56833271C=CA2224332217NUP93c.1402C= (p.Leu468=)
c.1033C= (p.Leu345=)
n.644C=
16g.56833271C>GCA395989901NUP93c.1402C>G (p.Leu468Val)
c.1033C>G (p.Leu345Val)
n.644C>G
 dbSNP gnomAD v2 gnomAD v4
16g.56833271C>TCA495600316NUP93c.1402C>T (p.Leu468=)
c.1033C>T (p.Leu345=)
n.644C>T
16g.56833272T>ACA395989905NUP93c.1403T>A (p.Leu468Gln)
c.1034T>A (p.Leu345Gln)
n.645T>A
16g.56833272T>CCA395989908NUP93c.1403T>C (p.Leu468Pro)
c.1034T>C (p.Leu345Pro)
n.645T>C
16g.56833272T>GCA395989910NUP93c.1403T>G (p.Leu468Arg)
c.1034T>G (p.Leu345Arg)
n.645T>G
16g.56833273G>ACA495600317NUP93c.1404G>A (p.Leu468=)
c.1035G>A (p.Leu345=)
n.646G>A
16g.56833273G>CCA495600319NUP93c.1404G>C (p.Leu468=)
c.1035G>C (p.Leu345=)
n.646G>C
 gnomAD v4
16g.56833273G>TCA495600318NUP93c.1404G>T (p.Leu468=)
c.1035G>T (p.Leu345=)
n.646G>T
16g.56833274A>CCA395989913NUP93c.1405A>C (p.Thr469Pro)
c.1036A>C (p.Thr346Pro)
n.647A>C
16g.56833274A>GCA395989915NUP93c.1405A>G (p.Thr469Ala)
c.1036A>G (p.Thr346Ala)
n.647A>G
16g.56833274A>TCA395989917NUP93c.1405A>T (p.Thr469Ser)
c.1036A>T (p.Thr346Ser)
n.647A>T
16g.56833275C>ACA395989920NUP93c.1406C>A (p.Thr469Lys)
c.1037C>A (p.Thr346Lys)
n.648C>A
16g.56833275C>GCA395989922NUP93c.1406C>G (p.Thr469Arg)
c.1037C>G (p.Thr346Arg)
n.648C>G
16g.56833275C>TCA395989924NUP93c.1406C>T (p.Thr469Ile)
c.1037C>T (p.Thr346Ile)
n.648C>T
16g.56833276A=CA2224332218NUP93c.1407A= (p.Thr469=)
c.1038A= (p.Thr346=)
n.649A=
16g.56833276A>CCA495600356NUP93c.1407A>C (p.Thr469=)
c.1038A>C (p.Thr346=)
n.649A>C
 gnomAD v4
16g.56833276A>GCA281497176NUP93c.1407A>G (p.Thr469=)
c.1038A>G (p.Thr346=)
n.649A>G
 dbSNP gnomAD v2 gnomAD v4
16g.56833276A>TCA495600357NUP93c.1407A>T (p.Thr469=)
c.1038A>T (p.Thr346=)
n.649A>T
16g.56833277G>ACA395989928NUP93c.1408G>A (p.Ala470Thr)
c.1039G>A (p.Ala347Thr)
n.650G>A
 dbSNP
16g.56833277G>CCA395989930NUP93c.1408G>C (p.Ala470Pro)
c.1039G>C (p.Ala347Pro)
n.650G>C
16g.56833277G=CA2224332219NUP93c.1408G= (p.Ala470=)
c.1039G= (p.Ala347=)
n.650G=
16g.56833277G>TCA395989932NUP93c.1408G>T (p.Ala470Ser)
c.1039G>T (p.Ala347Ser)
n.650G>T
16g.56833278C>ACA395989936NUP93c.1409C>A (p.Ala470Glu)
c.1040C>A (p.Ala347Glu)
n.651C>A
16g.56833278C=CA2224332220NUP93c.1409C= (p.Ala470=)
c.1040C= (p.Ala347=)
n.651C=
16g.56833278C>GCA395989939NUP93c.1409C>G (p.Ala470Gly)
c.1040C>G (p.Ala347Gly)
n.651C>G
16g.56833278C>TCA8068422NUP93c.1409C>T (p.Ala470Val)
c.1040C>T (p.Ala347Val)
n.651C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833278_56833288delinsCGCAGTTTGAACA2224332221NUP93c.1409_1419delinsCGCAGTTTGAA (p.Ala470=)
c.1040_1050delinsCGCAGTTTGAA (p.Ala347=)
n.651_661delinsCGCAGTTTGAA
16g.56833279G>ACA8068423NUP93c.1410G>A (p.Ala470=)
c.1041G>A (p.Ala347=)
n.652G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833279G>CCA495600358NUP93c.1410G>C (p.Ala470=)
c.1041G>C (p.Ala347=)
n.652G>C
16g.56833279G=CA2224332222NUP93c.1410G= (p.Ala470=)
c.1041G= (p.Ala347=)
n.652G=
16g.56833279G>TCA8068424NUP93c.1410G>T (p.Ala470=)
c.1041G>T (p.Ala347=)
n.652G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833283_56833292delCA977660841NUP93c.1414_1423del (p.Phe472GlnfsTer18)
c.1045_1054del (p.Phe349GlnfsTer18)
n.656_665del
 dbSNP gnomAD v3 gnomAD v4
16g.56833280C>ACA395989943NUP93c.1411C>A (p.Gln471Lys)
c.1042C>A (p.Gln348Lys)
n.653C>A
16g.56833280C>GCA395989944NUP93c.1411C>G (p.Gln471Glu)
c.1042C>G (p.Gln348Glu)
n.653C>G
16g.56833280C>TCA395989947NUP93c.1411C>T (p.Gln471Ter)
c.1042C>T (p.Gln348Ter)
n.653C>T
16g.56833281A>CCA395989949NUP93c.1412A>C (p.Gln471Pro)
c.1043A>C (p.Gln348Pro)
n.654A>C
16g.56833281A>GCA395989951NUP93c.1412A>G (p.Gln471Arg)
c.1043A>G (p.Gln348Arg)
n.654A>G
16g.56833281A>TCA395989952NUP93c.1412A>T (p.Gln471Leu)
c.1043A>T (p.Gln348Leu)
n.654A>T
16g.56833282G>ACA495600360NUP93c.1413G>A (p.Gln471=)
c.1044G>A (p.Gln348=)
n.655G>A
 dbSNP gnomAD v3 gnomAD v4
16g.56833282G>CCA395989956NUP93c.1413G>C (p.Gln471His)
c.1044G>C (p.Gln348His)
n.655G>C
16g.56833282G=CA2224332223NUP93c.1413G= (p.Gln471=)
c.1044G= (p.Gln348=)
n.655G=
16g.56833282G>TCA395989957NUP93c.1413G>T (p.Gln471His)
c.1044G>T (p.Gln348His)
n.655G>T
16g.56833283T>ACA395989959NUP93c.1414T>A (p.Phe472Ile)
c.1045T>A (p.Phe349Ile)
n.656T>A
16g.56833283T>CCA395989970NUP93c.1414T>C (p.Phe472Leu)
c.1045T>C (p.Phe349Leu)
n.656T>C
16g.56833283T>GCA395989973NUP93c.1414T>G (p.Phe472Val)
c.1045T>G (p.Phe349Val)
n.656T>G
16g.56833284T>ACA395989980NUP93c.1415T>A (p.Phe472Tyr)
c.1046T>A (p.Phe349Tyr)
n.657T>A
16g.56833284T>CCA395989978NUP93c.1415T>C (p.Phe472Ser)
c.1046T>C (p.Phe349Ser)
n.657T>C
16g.56833284T>GCA395989976NUP93c.1415T>G (p.Phe472Cys)
c.1046T>G (p.Phe349Cys)
n.657T>G
16g.56833285T>ACA395989982NUP93c.1416T>A (p.Phe472Leu)
c.1047T>A (p.Phe349Leu)
n.658T>A
16g.56833285T>CCA495600362NUP93c.1416T>C (p.Phe472=)
c.1047T>C (p.Phe349=)
n.658T>C
 dbSNP
16g.56833285T>GCA395989985NUP93c.1416T>G (p.Phe472Leu)
c.1047T>G (p.Phe349Leu)
n.658T>G
 gnomAD v4
16g.56833286G>ACA395989987NUP93c.1417G>A (p.Glu473Lys)
c.1048G>A (p.Glu350Lys)
n.659G>A
 gnomAD v4
16g.56833286G>CCA395989989NUP93c.1417G>C (p.Glu473Gln)
c.1048G>C (p.Glu350Gln)
n.659G>C
16g.56833286G>TCA395989991NUP93c.1417G>T (p.Glu473Ter)
c.1048G>T (p.Glu350Ter)
n.659G>T
16g.56833287A>CCA395989994NUP93c.1418A>C (p.Glu473Ala)
c.1049A>C (p.Glu350Ala)
n.660A>C
16g.56833287A>GCA395989995NUP93c.1418A>G (p.Glu473Gly)
c.1049A>G (p.Glu350Gly)
n.660A>G
16g.56833287A>TCA395989997NUP93c.1418A>T (p.Glu473Val)
c.1049A>T (p.Glu350Val)
n.660A>T
16g.56833288A>CCA395990000NUP93c.1419A>C (p.Glu473Asp)
c.1050A>C (p.Glu350Asp)
n.661A>C
16g.56833288A>GCA495600365NUP93c.1419A>G (p.Glu473=)
c.1050A>G (p.Glu350=)
n.661A>G
16g.56833288A>TCA395990002NUP93c.1419A>T (p.Glu473Asp)
c.1050A>T (p.Glu350Asp)
n.661A>T
16g.56833289G>ACA395990005NUP93c.1420G>A (p.Ala474Thr)
c.1051G>A (p.Ala351Thr)
n.662G>A
16g.56833289G>CCA395990006NUP93c.1420G>C (p.Ala474Pro)
c.1051G>C (p.Ala351Pro)
n.662G>C
16g.56833289G>TCA395990007NUP93c.1420G>T (p.Ala474Ser)
c.1051G>T (p.Ala351Ser)
n.662G>T
16g.56833290C>ACA395990011NUP93c.1421C>A (p.Ala474Glu)
c.1052C>A (p.Ala351Glu)
n.663C>A
16g.56833290C=CA2224332224NUP93c.1421C= (p.Ala474=)
c.1052C= (p.Ala351=)
n.663C=
16g.56833290C>GCA395990013NUP93c.1421C>G (p.Ala474Gly)
c.1052C>G (p.Ala351Gly)
n.663C>G
 gnomAD v4
16g.56833290C>TCA395990009NUP93c.1421C>T (p.Ala474Val)
c.1052C>T (p.Ala351Val)
n.663C>T
 dbSNP gnomAD v4
16g.56833291A>CCA495600366NUP93c.1422A>C (p.Ala474=)
c.1053A>C (p.Ala351=)
n.664A>C
16g.56833291A>GCA495600367NUP93c.1422A>G (p.Ala474=)
c.1053A>G (p.Ala351=)
n.664A>G
 gnomAD v4
16g.56833291A>TCA495600368NUP93c.1422A>T (p.Ala474=)
c.1053A>T (p.Ala351=)
n.664A>T
16g.56833292G>ACA395990017NUP93c.1423G>A (p.Ala475Thr)
c.1054G>A (p.Ala352Thr)
n.665G>A
16g.56833292G>CCA395990019NUP93c.1423G>C (p.Ala475Pro)
c.1054G>C (p.Ala352Pro)
n.665G>C
16g.56833292G=CA2224332225NUP93c.1423G= (p.Ala475=)
c.1054G= (p.Ala352=)
n.665G=
16g.56833292G>TCA8068425NUP93c.1423G>T (p.Ala475Ser)
c.1054G>T (p.Ala352Ser)
n.665G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833293C>ACA395990023NUP93c.1424C>A (p.Ala475Glu)
c.1055C>A (p.Ala352Glu)
n.666C>A
16g.56833293C=CA2224332226NUP93c.1424C= (p.Ala475=)
c.1055C= (p.Ala352=)
n.666C=
16g.56833293C>GCA8068426NUP93c.1424C>G (p.Ala475Gly)
c.1055C>G (p.Ala352Gly)
n.666C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833293C>TCA395990026NUP93c.1424C>T (p.Ala475Val)
c.1055C>T (p.Ala352Val)
n.666C>T
16g.56833294A>CCA495600369NUP93c.1425A>C (p.Ala475=)
c.1056A>C (p.Ala352=)
n.667A>C
16g.56833294A>GCA495600370NUP93c.1425A>G (p.Ala475=)
c.1056A>G (p.Ala352=)
n.667A>G
16g.56833294A>TCA495600371NUP93c.1425A>T (p.Ala475=)
c.1056A>T (p.Ala352=)
n.667A>T
16g.56833295G>ACA8068427NUP93c.1426G>A (p.Val476Ile)
c.1057G>A (p.Val353Ile)
n.668G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833295G>CCA395990031NUP93c.1426G>C (p.Val476Leu)
c.1057G>C (p.Val353Leu)
n.668G>C
16g.56833295G=CA2224332227NUP93c.1426G= (p.Val476=)
c.1057G= (p.Val353=)
n.668G=
16g.56833295G>TCA395990033NUP93c.1426G>T (p.Val476Phe)
c.1057G>T (p.Val353Phe)
n.668G>T
16g.56833296T>ACA395990035NUP93c.1427T>A (p.Val476Asp)
c.1058T>A (p.Val353Asp)
n.669T>A
16g.56833296T>CCA395990037NUP93c.1427T>C (p.Val476Ala)
c.1058T>C (p.Val353Ala)
n.669T>C
 gnomAD v4
16g.56833296T>GCA395990039NUP93c.1427T>G (p.Val476Gly)
c.1058T>G (p.Val353Gly)
n.669T>G
16g.56833297T>ACA495600373NUP93c.1428T>A (p.Val476=)
c.1059T>A (p.Val353=)
n.670T>A
16g.56833297T>CCA495600374NUP93c.1428T>C (p.Val476=)
c.1059T>C (p.Val353=)
n.670T>C
16g.56833297T>GCA495600375NUP93c.1428T>G (p.Val476=)
c.1059T>G (p.Val353=)
n.670T>G
16g.56833298G>ACA395990046NUP93c.1429G>A (p.Ala477Thr)
c.1060G>A (p.Ala354Thr)
n.671G>A
16g.56833298G>CCA395990042NUP93c.1429G>C (p.Ala477Pro)
c.1060G>C (p.Ala354Pro)
n.671G>C
16g.56833298G>TCA395990044NUP93c.1429G>T (p.Ala477Ser)
c.1060G>T (p.Ala354Ser)
n.671G>T
16g.56833299C>ACA395990049NUP93c.1430C>A (p.Ala477Asp)
c.1061C>A (p.Ala354Asp)
n.672C>A
16g.56833299C>GCA395990051NUP93c.1430C>G (p.Ala477Gly)
c.1061C>G (p.Ala354Gly)
n.672C>G
16g.56833299C>TCA395990053NUP93c.1430C>T (p.Ala477Val)
c.1061C>T (p.Ala354Val)
n.672C>T
16g.56833300C>ACA495600376NUP93c.1431C>A (p.Ala477=)
c.1062C>A (p.Ala354=)
n.673C>A
16g.56833300C=CA2224332228NUP93c.1431C= (p.Ala477=)
c.1062C= (p.Ala354=)
n.673C=
16g.56833300C>GCA495600377NUP93c.1431C>G (p.Ala477=)
c.1062C>G (p.Ala354=)
n.673C>G
 dbSNP gnomAD v4
16g.56833300C>TCA495600378NUP93c.1431C>T (p.Ala477=)
c.1062C>T (p.Ala354=)
n.673C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56833301T>ACA395990055NUP93c.1432T>A (p.Phe478Ile)
c.1063T>A (p.Phe355Ile)
n.674T>A
16g.56833301T>CCA395990057NUP93c.1432T>C (p.Phe478Leu)
c.1063T>C (p.Phe355Leu)
n.674T>C
 dbSNP gnomAD v3 gnomAD v4
16g.56833301T>GCA395990060NUP93c.1432T>G (p.Phe478Val)
c.1063T>G (p.Phe355Val)
n.674T>G
16g.56833302T>ACA395990061NUP93c.1433T>A (p.Phe478Tyr)
c.1064T>A (p.Phe355Tyr)
n.675T>A
16g.56833302T>CCA395990062NUP93c.1433T>C (p.Phe478Ser)
c.1064T>C (p.Phe355Ser)
n.675T>C
16g.56833302T>GCA395990065NUP93c.1433T>G (p.Phe478Cys)
c.1064T>G (p.Phe355Cys)
n.675T>G
16g.56833303T>ACA395990066NUP93c.1434T>A (p.Phe478Leu)
c.1065T>A (p.Phe355Leu)
n.676T>A
16g.56833303T>CCA495600379NUP93c.1434T>C (p.Phe478=)
c.1065T>C (p.Phe355=)
n.676T>C
16g.56833303T>GCA395990068NUP93c.1434T>G (p.Phe478Leu)
c.1065T>G (p.Phe355Leu)
n.676T>G
16g.56833304C>ACA395990075NUP93c.1435C>A (p.Leu479Ile)
c.1066C>A (p.Leu356Ile)
n.677C>A
16g.56833304C=CA2224332229NUP93c.1435C= (p.Leu479=)
c.1066C= (p.Leu356=)
n.677C=
16g.56833304C>GCA395990073NUP93c.1435C>G (p.Leu479Val)
c.1066C>G (p.Leu356Val)
n.677C>G
 dbSNP gnomAD v3 gnomAD v4
16g.56833304C>TCA395990071NUP93c.1435C>T (p.Leu479Phe)
c.1066C>T (p.Leu356Phe)
n.677C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56833305T>ACA395990078NUP93c.1436T>A (p.Leu479His)
c.1067T>A (p.Leu356His)
n.678T>A
16g.56833305T>CCA395990082NUP93c.1436T>C (p.Leu479Pro)
c.1067T>C (p.Leu356Pro)
n.678T>C
 gnomAD v4
16g.56833305T>GCA395990080NUP93c.1436T>G (p.Leu479Arg)
c.1067T>G (p.Leu356Arg)
n.678T>G
16g.56833308delCA2633366288NUP93c.1439del (p.Phe480SerfsTer13)
c.1070del (p.Phe357SerfsTer13)
n.681del
 gnomAD v4
16g.56833306T>ACA495600380NUP93c.1437T>A (p.Leu479=)
c.1068T>A (p.Leu356=)
n.679T>A
16g.56833306T>CCA495600381NUP93c.1437T>C (p.Leu479=)
c.1068T>C (p.Leu356=)
n.679T>C
16g.56833306T>GCA495600382NUP93c.1437T>G (p.Leu479=)
c.1068T>G (p.Leu356=)
n.679T>G
16g.56833307T>ACA395990085NUP93c.1438T>A (p.Phe480Ile)
c.1069T>A (p.Phe357Ile)
n.680T>A
16g.56833307T>CCA395990089NUP93c.1438T>C (p.Phe480Leu)
c.1069T>C (p.Phe357Leu)
n.680T>C
16g.56833307T>GCA395990087NUP93c.1438T>G (p.Phe480Val)
c.1069T>G (p.Phe357Val)
n.680T>G
16g.56833308T>ACA395990092NUP93c.1439T>A (p.Phe480Tyr)
c.1070T>A (p.Phe357Tyr)
n.681T>A
16g.56833308T>CCA395990093NUP93c.1439T>C (p.Phe480Ser)
c.1070T>C (p.Phe357Ser)
n.681T>C
16g.56833308T>GCA395990096NUP93c.1439T>G (p.Phe480Cys)
c.1070T>G (p.Phe357Cys)
n.681T>G
16g.56833309C>ACA395990100NUP93c.1440C>A (p.Phe480Leu)
c.1071C>A (p.Phe357Leu)
n.682C>A
16g.56833309C=CA2224332230NUP93c.1440C= (p.Phe480=)
c.1071C= (p.Phe357=)
n.682C=
16g.56833309C>GCA395990102NUP93c.1440C>G (p.Phe480Leu)
c.1071C>G (p.Phe357Leu)
n.682C>G
16g.56833309C>TCA495600384NUP93c.1440C>T (p.Phe480=)
c.1071C>T (p.Phe357=)
n.682C>T
 dbSNP
16g.56833310C>ACA395990104NUP93c.1441C>A (p.Arg481Ser)
c.1072C>A (p.Arg358Ser)
n.683C>A
 gnomAD v4
16g.56833310C=CA2224332231NUP93c.1441C= (p.Arg481=)
c.1072C= (p.Arg358=)
n.683C=
16g.56833310C>GCA395990106NUP93c.1441C>G (p.Arg481Gly)
c.1072C>G (p.Arg358Gly)
n.683C>G
16g.56833310C>TCA8068428NUP93c.1441C>T (p.Arg481Cys)
c.1072C>T (p.Arg358Cys)
n.683C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched