Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
16g.56833311G>ACA8068429NUP93c.1442G>A (p.Arg481His)
c.1073G>A (p.Arg358His)
n.684G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833311G>CCA395990112NUP93c.1442G>C (p.Arg481Pro)
c.1073G>C (p.Arg358Pro)
n.684G>C
16g.56833311G=CA2224332232NUP93c.1442G= (p.Arg481=)
c.1073G= (p.Arg358=)
n.684G=
16g.56833311G>TCA395990114NUP93c.1442G>T (p.Arg481Leu)
c.1073G>T (p.Arg358Leu)
n.684G>T
 gnomAD v4
16g.56833312C>ACA495600386NUP93c.1443C>A (p.Arg481=)
c.1074C>A (p.Arg358=)
n.685C>A
16g.56833312C>GCA495600387NUP93c.1443C>G (p.Arg481=)
c.1074C>G (p.Arg358=)
n.685C>G
16g.56833312C>TCA495600388NUP93c.1443C>T (p.Arg481=)
c.1074C>T (p.Arg358=)
n.685C>T
16g.56833313A=CA2224332233NUP93c.1444A= (p.Met482=)
c.1075A= (p.Met359=)
n.686A=
16g.56833313A>CCA395990116NUP93c.1444A>C (p.Met482Leu)
c.1075A>C (p.Met359Leu)
n.686A>C
16g.56833313A>GCA395990121NUP93c.1444A>G (p.Met482Val)
c.1075A>G (p.Met359Val)
n.686A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56833313A>TCA395990119NUP93c.1444A>T (p.Met482Leu)
c.1075A>T (p.Met359Leu)
n.686A>T
 dbSNP gnomAD v2 gnomAD v4
16g.56833314T>ACA395990124NUP93c.1445T>A (p.Met482Lys)
c.1076T>A (p.Met359Lys)
n.687T>A
16g.56833314T>CCA281497190NUP93c.1445T>C (p.Met482Thr)
c.1076T>C (p.Met359Thr)
n.687T>C
 dbSNP gnomAD v4
16g.56833314T>GCA395990126NUP93c.1445T>G (p.Met482Arg)
c.1076T>G (p.Met359Arg)
n.687T>G
16g.56833314T=CA2224332234NUP93c.1445T= (p.Met482=)
c.1076T= (p.Met359=)
n.687T=
16g.56833315G>ACA395990129NUP93c.1446G>A (p.Met482Ile)
c.1077G>A (p.Met359Ile)
n.688G>A
16g.56833315G>CCA395990131NUP93c.1446G>C (p.Met482Ile)
c.1077G>C (p.Met359Ile)
n.688G>C
16g.56833315G>TCA395990132NUP93c.1446G>T (p.Met482Ile)
c.1077G>T (p.Met359Ile)
n.688G>T
16g.56833316G>ACA395990133NUP93c.1447G>A (p.Glu483Lys)
c.1078G>A (p.Glu360Lys)
n.689G>A
16g.56833316G>CCA395990134NUP93c.1447G>C (p.Glu483Gln)
c.1078G>C (p.Glu360Gln)
n.689G>C
16g.56833316G>TCA395990135NUP93c.1447G>T (p.Glu483Ter)
c.1078G>T (p.Glu360Ter)
n.689G>T
16g.56833317A>CCA395990140NUP93c.1448A>C (p.Glu483Ala)
c.1079A>C (p.Glu360Ala)
n.690A>C
16g.56833317A>GCA395990142NUP93c.1448A>G (p.Glu483Gly)
c.1079A>G (p.Glu360Gly)
n.690A>G
16g.56833317A>TCA395990138NUP93c.1448A>T (p.Glu483Val)
c.1079A>T (p.Glu360Val)
n.690A>T
16g.56833318G>ACA495600389NUP93c.1449G>A (p.Glu483=)
c.1080G>A (p.Glu360=)
n.691G>A
16g.56833318G>CCA395990145NUP93c.1449G>C (p.Glu483Asp)
c.1080G>C (p.Glu360Asp)
n.691G>C
16g.56833318G>TCA395990146NUP93c.1449G>T (p.Glu483Asp)
c.1080G>T (p.Glu360Asp)
n.691G>T
16g.56833319C>ACA495600390NUP93c.1450C>A (p.Arg484=)
c.1081C>A (p.Arg361=)
n.692C>A
 dbSNP gnomAD v2 gnomAD v4
16g.56833319C=CA2224332235NUP93c.1450C= (p.Arg484=)
c.1081C= (p.Arg361=)
n.692C=
16g.56833319C>GCA395990149NUP93c.1450C>G (p.Arg484Gly)
c.1081C>G (p.Arg361Gly)
n.692C>G
16g.56833319C>TCA8068430NUP93c.1450C>T (p.Arg484Trp)
c.1081C>T (p.Arg361Trp)
n.692C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833320G>ACA395990155NUP93c.1451G>A (p.Arg484Gln)
c.1082G>A (p.Arg361Gln)
n.693G>A
 dbSNP gnomAD v2 gnomAD v4
16g.56833320G>CCA395990157NUP93c.1451G>C (p.Arg484Pro)
c.1082G>C (p.Arg361Pro)
n.693G>C
16g.56833320G=CA2224332236NUP93c.1451G= (p.Arg484=)
c.1082G= (p.Arg361=)
n.693G=
16g.56833320G>TCA395990159NUP93c.1451G>T (p.Arg484Leu)
c.1082G>T (p.Arg361Leu)
n.693G>T
16g.56833321G>ACA495600394NUP93c.1452G>A (p.Arg484=)
c.1083G>A (p.Arg361=)
n.694G>A
 gnomAD v4
16g.56833321G>CCA495600393NUP93c.1452G>C (p.Arg484=)
c.1083G>C (p.Arg361=)
n.694G>C
 dbSNP gnomAD v2 gnomAD v4
16g.56833321G=CA2224332237NUP93c.1452G= (p.Arg484=)
c.1083G= (p.Arg361=)
n.694G=
16g.56833321G>TCA495600392NUP93c.1452G>T (p.Arg484=)
c.1083G>T (p.Arg361=)
n.694G>T
 gnomAD v4
16g.56833322C>ACA395990161NUP93c.1453C>A (p.Leu485Met)
c.1084C>A (p.Leu362Met)
n.695C>A
 dbSNP gnomAD v2 gnomAD v4
16g.56833322C=CA2224332238NUP93c.1453C= (p.Leu485=)
c.1084C= (p.Leu362=)
n.695C=
16g.56833322C>GCA395990162NUP93c.1453C>G (p.Leu485Val)
c.1084C>G (p.Leu362Val)
n.695C>G
16g.56833322C>TCA495600395NUP93c.1453C>T (p.Leu485=)
c.1084C>T (p.Leu362=)
n.695C>T
 dbSNP gnomAD v3 gnomAD v4
16g.56833323T>ACA395990163NUP93c.1454T>A (p.Leu485Gln)
c.1085T>A (p.Leu362Gln)
n.696T>A
16g.56833323T>CCA395990164NUP93c.1454T>C (p.Leu485Pro)
c.1085T>C (p.Leu362Pro)
n.696T>C
 dbSNP gnomAD v2 gnomAD v4
16g.56833323T>GCA395990165NUP93c.1454T>G (p.Leu485Arg)
c.1085T>G (p.Leu362Arg)
n.696T>G
16g.56833323T=CA2224332239NUP93c.1454T= (p.Leu485=)
c.1085T= (p.Leu362=)
n.696T=
16g.56833324G>ACA495600396NUP93c.1455G>A (p.Leu485=)
c.1086G>A (p.Leu362=)
n.697G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56833324G>CCA495600397NUP93c.1455G>C (p.Leu485=)
c.1086G>C (p.Leu362=)
n.697G>C
16g.56833324G=CA2224332240NUP93c.1455G= (p.Leu485=)
c.1086G= (p.Leu362=)
n.697G=
16g.56833324G>TCA495600398NUP93c.1455G>T (p.Leu485=)
c.1086G>T (p.Leu362=)
n.697G>T
16g.56833325C>ACA395990168NUP93c.1456C>A (p.Arg486Ser)
c.1087C>A (p.Arg363Ser)
n.698C>A
16g.56833325C=CA2224332241NUP93c.1456C= (p.Arg486=)
c.1087C= (p.Arg363=)
n.698C=
16g.56833325C>GCA395990166NUP93c.1456C>G (p.Arg486Gly)
c.1087C>G (p.Arg363Gly)
n.698C>G
16g.56833325C>TCA8068431NUP93c.1456C>T (p.Arg486Cys)
c.1087C>T (p.Arg363Cys)
n.698C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56833326G>ACA8068432NUP93c.1457G>A (p.Arg486His)
c.1088G>A (p.Arg363His)
n.699G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56833326G>CCA395990172NUP93c.1457G>C (p.Arg486Pro)
c.1088G>C (p.Arg363Pro)
n.699G>C
16g.56833326G=CA2224332242NUP93c.1457G= (p.Arg486=)
c.1088G= (p.Arg363=)
n.699G=
16g.56833326G>TCA395990174NUP93c.1457G>T (p.Arg486Leu)
c.1088G>T (p.Arg363Leu)
n.699G>T
16g.56833327C>ACA495600399NUP93c.1458C>A (p.Arg486=)
c.1089C>A (p.Arg363=)
n.700C>A
16g.56833327C=CA2224332243NUP93c.1458C= (p.Arg486=)
c.1089C= (p.Arg363=)
n.700C=
16g.56833327C>GCA495600400NUP93c.1458C>G (p.Arg486=)
c.1089C>G (p.Arg363=)
n.700C>G
16g.56833327C>TCA8068433NUP93c.1458C>T (p.Arg486=)
c.1089C>T (p.Arg363=)
n.700C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833328T>ACA395990178NUP93c.1459T>A (p.Cys487Ser)
c.1090T>A (p.Cys364Ser)
n.701T>A
16g.56833328T>CCA395990180NUP93c.1459T>C (p.Cys487Arg)
c.1090T>C (p.Cys364Arg)
n.701T>C
 gnomAD v4
16g.56833328T>GCA395990182NUP93c.1459T>G (p.Cys487Gly)
c.1090T>G (p.Cys364Gly)
n.701T>G
16g.56833329G>ACA395990184NUP93c.1460G>A (p.Cys487Tyr)
c.1091G>A (p.Cys364Tyr)
n.702G>A
 gnomAD v4
16g.56833329G>CCA395990186NUP93c.1460G>C (p.Cys487Ser)
c.1091G>C (p.Cys364Ser)
n.702G>C
16g.56833329G>TCA395990187NUP93c.1460G>T (p.Cys487Phe)
c.1091G>T (p.Cys364Phe)
n.702G>T
16g.56833330C>ACA395990190NUP93c.1461C>A (p.Cys487Ter)
c.1092C>A (p.Cys364Ter)
n.703C>A
16g.56833330C=CA2224332244NUP93c.1461C= (p.Cys487=)
c.1092C= (p.Cys364=)
n.703C=
16g.56833330C>GCA395990191NUP93c.1461C>G (p.Cys487Trp)
c.1092C>G (p.Cys364Trp)
n.703C>G
 gnomAD v4
16g.56833330C>TCA8068434NUP93c.1461C>T (p.Cys487=)
c.1092C>T (p.Cys364=)
n.703C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833331C>ACA395990197NUP93c.1462C>A (p.His488Asn)
c.1093C>A (p.His365Asn)
n.704C>A
16g.56833331C=CA2224332245NUP93c.1462C= (p.His488=)
c.1093C= (p.His365=)
n.704C=
16g.56833331C>GCA395990200NUP93c.1462C>G (p.His488Asp)
c.1093C>G (p.His365Asp)
n.704C>G
16g.56833331C>TCA8068435NUP93c.1462C>T (p.His488Tyr)
c.1093C>T (p.His365Tyr)
n.704C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833332A=CA2224332246NUP93c.1463A= (p.His488=)
c.1094A= (p.His365=)
n.705A=
16g.56833332A>CCA395990208NUP93c.1463A>C (p.His488Pro)
c.1094A>C (p.His365Pro)
n.705A>C
 gnomAD v4
16g.56833332A>GCA395990204NUP93c.1463A>G (p.His488Arg)
c.1094A>G (p.His365Arg)
n.705A>G
 ClinVar dbSNP gnomAD v4
16g.56833332A>TCA395990206NUP93c.1463A>T (p.His488Leu)
c.1094A>T (p.His365Leu)
n.705A>T
16g.56833333T>ACA281497210NUP93c.1464T>A (p.His488Gln)
c.1095T>A (p.His365Gln)
n.706T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56833333T>CCA495600401NUP93c.1464T>C (p.His488=)
c.1095T>C (p.His365=)
n.706T>C
 dbSNP gnomAD v2 gnomAD v4
16g.56833333T>GCA395990210NUP93c.1464T>G (p.His488Gln)
c.1095T>G (p.His365Gln)
n.706T>G
16g.56833333T=CA2224332247NUP93c.1464T= (p.His488=)
c.1095T= (p.His365=)
n.706T=
16g.56833334G>ACA395990211NUP93c.1465G>A (p.Ala489Thr)
c.1096G>A (p.Ala366Thr)
n.707G>A
16g.56833334G>CCA395990212NUP93c.1465G>C (p.Ala489Pro)
c.1096G>C (p.Ala366Pro)
n.707G>C
 gnomAD v4
16g.56833334G>TCA395990213NUP93c.1465G>T (p.Ala489Ser)
c.1096G>T (p.Ala366Ser)
n.707G>T
16g.56833335C>ACA395990214NUP93c.1466C>A (p.Ala489Asp)
c.1097C>A (p.Ala366Asp)
n.708C>A
16g.56833335C=CA2224332248NUP93c.1466C= (p.Ala489=)
c.1097C= (p.Ala366=)
n.708C=
16g.56833335C>GCA395990215NUP93c.1466C>G (p.Ala489Gly)
c.1097C>G (p.Ala366Gly)
n.708C>G
16g.56833335C>TCA395990216NUP93c.1466C>T (p.Ala489Val)
c.1097C>T (p.Ala366Val)
n.708C>T
 gnomAD v4
16g.56833336T>ACA495600404NUP93c.1467T>A (p.Ala489=)
c.1098T>A (p.Ala366=)
n.709T>A
16g.56833336T>CCA495600403NUP93c.1467T>C (p.Ala489=)
c.1098T>C (p.Ala366=)
n.709T>C
 gnomAD v4
16g.56833336T>GCA495600402NUP93c.1467T>G (p.Ala489=)
c.1098T>G (p.Ala366=)
n.709T>G
16g.56833339_56833344dupCA622338436NUP93c.1470_1475dup (p.Val492_Ala493insHisVal)
c.1101_1106dup (p.Val369_Ala370insHisVal)
n.712_717dup
 dbSNP gnomAD v2 gnomAD v4
16g.56833337G>ACA395990217NUP93c.1468G>A (p.Val490Ile)
c.1099G>A (p.Val367Ile)
n.710G>A
 gnomAD v4
16g.56833337G>CCA395990218NUP93c.1468G>C (p.Val490Leu)
c.1099G>C (p.Val367Leu)
n.710G>C
 gnomAD v4
16g.56833337G>TCA395990219NUP93c.1468G>T (p.Val490Phe)
c.1099G>T (p.Val367Phe)
n.710G>T
16g.56833338T>ACA395990220NUP93c.1469T>A (p.Val490Asp)
c.1100T>A (p.Val367Asp)
n.711T>A
16g.56833338T>CCA395990222NUP93c.1469T>C (p.Val490Ala)
c.1100T>C (p.Val367Ala)
n.711T>C
 gnomAD v4
16g.56833338T>GCA395990221NUP93c.1469T>G (p.Val490Gly)
c.1100T>G (p.Val367Gly)
n.711T>G
16g.56833339C>ACA495600407NUP93c.1470C>A (p.Val490=)
c.1101C>A (p.Val367=)
n.712C>A
16g.56833339C=CA2224332249NUP93c.1470C= (p.Val490=)
c.1101C= (p.Val367=)
n.712C=
16g.56833339C>GCA495600406NUP93c.1470C>G (p.Val490=)
c.1101C>G (p.Val367=)
n.712C>G
 gnomAD v4
16g.56833339C>TCA495600405NUP93c.1470C>T (p.Val490=)
c.1101C>T (p.Val367=)
n.712C>T
 dbSNP COSMIC
16g.56833340C>ACA395990223NUP93c.1471C>A (p.His491Asn)
c.1102C>A (p.His368Asn)
n.713C>A
16g.56833340C=CA2224332250NUP93c.1471C= (p.His491=)
c.1102C= (p.His368=)
n.713C=
16g.56833340C>GCA395990224NUP93c.1471C>G (p.His491Asp)
c.1102C>G (p.His368Asp)
n.713C>G
 dbSNP
16g.56833340C>TCA395990225NUP93c.1471C>T (p.His491Tyr)
c.1102C>T (p.His368Tyr)
n.713C>T
16g.56833341A=CA2224332251NUP93c.1472A= (p.His491=)
c.1103A= (p.His368=)
n.714A=
16g.56833341A>CCA395990226NUP93c.1472A>C (p.His491Pro)
c.1103A>C (p.His368Pro)
n.714A>C
16g.56833341A>GCA395990228NUP93c.1472A>G (p.His491Arg)
c.1103A>G (p.His368Arg)
n.714A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56833341A>TCA395990230NUP93c.1472A>T (p.His491Leu)
c.1103A>T (p.His368Leu)
n.714A>T
16g.56833342T>ACA395990232NUP93c.1473T>A (p.His491Gln)
c.1104T>A (p.His368Gln)
n.715T>A
16g.56833342T>CCA495600408NUP93c.1473T>C (p.His491=)
c.1104T>C (p.His368=)
n.715T>C
16g.56833342T>GCA395990234NUP93c.1473T>G (p.His491Gln)
c.1104T>G (p.His368Gln)
n.715T>G
 dbSNP gnomAD v2 gnomAD v4
16g.56833342T=CA2224332252NUP93c.1473T= (p.His491=)
c.1104T= (p.His368=)
n.715T=
16g.56833343G>ACA395990237NUP93c.1474G>A (p.Val492Ile)
c.1105G>A (p.Val369Ile)
n.716G>A
 dbSNP gnomAD v3 gnomAD v4
16g.56833343G>CCA395990238NUP93c.1474G>C (p.Val492Leu)
c.1105G>C (p.Val369Leu)
n.716G>C
16g.56833343G=CA2224332253NUP93c.1474G= (p.Val492=)
c.1105G= (p.Val369=)
n.716G=
16g.56833343G>TCA395990240NUP93c.1474G>T (p.Val492Leu)
c.1105G>T (p.Val369Leu)
n.716G>T
16g.56833344T>ACA395990244NUP93c.1475T>A (p.Val492Glu)
c.1106T>A (p.Val369Glu)
n.717T>A
16g.56833344T>CCA395990246NUP93c.1475T>C (p.Val492Ala)
c.1106T>C (p.Val369Ala)
n.717T>C
16g.56833344T>GCA395990243NUP93c.1475T>G (p.Val492Gly)
c.1106T>G (p.Val369Gly)
n.717T>G
16g.56833345A=CA2224332254NUP93c.1476A= (p.Val492=)
c.1107A= (p.Val369=)
n.718A=
16g.56833345A>CCA495600409NUP93c.1476A>C (p.Val492=)
c.1107A>C (p.Val369=)
n.718A>C
 gnomAD v4
16g.56833345A>GCA8068437NUP93c.1476A>G (p.Val492=)
c.1107A>G (p.Val369=)
n.718A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833345A>TCA8068436NUP93c.1476A>T (p.Val492=)
c.1107A>T (p.Val369=)
n.718A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833346G>ACA395990252NUP93c.1477G>A (p.Ala493Thr)
c.1108G>A (p.Ala370Thr)
n.719G>A
 dbSNP gnomAD v3 gnomAD v4
16g.56833346G>CCA395990253NUP93c.1477G>C (p.Ala493Pro)
c.1108G>C (p.Ala370Pro)
n.719G>C
16g.56833346G=CA2224332255NUP93c.1477G= (p.Ala493=)
c.1108G= (p.Ala370=)
n.719G=
16g.56833346G>TCA395990255NUP93c.1477G>T (p.Ala493Ser)
c.1108G>T (p.Ala370Ser)
n.719G>T
16g.56833347C>ACA395990258NUP93c.1478C>A (p.Ala493Glu)
c.1109C>A (p.Ala370Glu)
n.720C>A
16g.56833347C=CA2224332256NUP93c.1478C= (p.Ala493=)
c.1109C= (p.Ala370=)
n.720C=
16g.56833347C>GCA395990259NUP93c.1478C>G (p.Ala493Gly)
c.1109C>G (p.Ala370Gly)
n.720C>G
16g.56833347C>TCA395990261NUP93c.1478C>T (p.Ala493Val)
c.1109C>T (p.Ala370Val)
n.720C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56833348A=CA2224332257NUP93c.1479A= (p.Ala493=)
c.1110A= (p.Ala370=)
n.721A=
16g.56833348A>CCA495600410NUP93c.1479A>C (p.Ala493=)
c.1110A>C (p.Ala370=)
n.721A>C
16g.56833348A>GCA8068438NUP93c.1479A>G (p.Ala493=)
c.1110A>G (p.Ala370=)
n.721A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833348A>TCA495600411NUP93c.1479A>T (p.Ala493=)
c.1110A>T (p.Ala370=)
n.721A>T
 gnomAD v4

Number of alleles fetched