Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56836696_56836714delinsAAAGCTGTATGACCTTGCCCA2224333817NUP93c.1878_1896delinsAAAGCTGTATGACCTTGCC (p.Ala626=)
c.1509_1527delinsAAAGCTGTATGACCTTGCC (p.Ala503=)
c.72_90delinsAAAGCTGTATGACCTTGCC (p.Ala24=)
16g.56836700_56836717delCA8068573NUP93c.1882_1899del (p.Leu628_Lys633del)
c.1513_1530del (p.Leu505_Lys510del)
c.76_93del (p.Leu26_Lys31del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836704A=CA2224333820NUP93c.1886A= (p.Tyr629=)
c.1517A= (p.Tyr506=)
c.80A= (p.Tyr27=)
16g.56836704A>CCA395993341NUP93c.1886A>C (p.Tyr629Ser)
c.1517A>C (p.Tyr506Ser)
c.80A>C (p.Tyr27Ser)
16g.56836704A>GCA357852NUP93c.1886A>G (p.Tyr629Cys)
c.1517A>G (p.Tyr506Cys)
c.80A>G (p.Tyr27Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836704A>TCA395993344NUP93c.1886A>T (p.Tyr629Phe)
c.1517A>T (p.Tyr506Phe)
c.80A>T (p.Tyr27Phe)
16g.56836705T>ACA395993345NUP93c.1887T>A (p.Tyr629Ter)
c.1518T>A (p.Tyr506Ter)
c.81T>A (p.Tyr27Ter)
16g.56836705T>CCA495602533NUP93c.1887T>C (p.Tyr629=)
c.1518T>C (p.Tyr506=)
c.81T>C (p.Tyr27=)
16g.56836705T>GCA395993346NUP93c.1887T>G (p.Tyr629Ter)
c.1518T>G (p.Tyr506Ter)
c.81T>G (p.Tyr27Ter)
16g.56836706G>ACA395993347NUP93c.1888G>A (p.Asp630Asn)
c.1519G>A (p.Asp507Asn)
c.82G>A (p.Asp28Asn)
 COSMIC
16g.56836706G>CCA395993349NUP93c.1888G>C (p.Asp630His)
c.1519G>C (p.Asp507His)
c.82G>C (p.Asp28His)
16g.56836706G=CA2224333821NUP93c.1888G= (p.Asp630=)
c.1519G= (p.Asp507=)
c.82G= (p.Asp28=)
16g.56836706G>TCA395993350NUP93c.1888G>T (p.Asp630Tyr)
c.1519G>T (p.Asp507Tyr)
c.82G>T (p.Asp28Tyr)
16g.56836707A=CA2224333822NUP93c.1889A= (p.Asp630=)
c.1520A= (p.Asp507=)
c.83A= (p.Asp28=)
16g.56836707A>CCA395993354NUP93c.1889A>C (p.Asp630Ala)
c.1520A>C (p.Asp507Ala)
c.83A>C (p.Asp28Ala)
16g.56836707A>GCA395993356NUP93c.1889A>G (p.Asp630Gly)
c.1520A>G (p.Asp507Gly)
c.83A>G (p.Asp28Gly)
16g.56836707A>TCA395993353NUP93c.1889A>T (p.Asp630Val)
c.1520A>T (p.Asp507Val)
c.83A>T (p.Asp28Val)
 dbSNP gnomAD v3 gnomAD v4
16g.56836707dupCA8068574NUP93c.1889dup (p.Asp630GlufsTer7)
c.1520dup (p.Asp507GlufsTer7)
c.83dup (p.Asp28GlufsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836708C>ACA395993358NUP93c.1890C>A (p.Asp630Glu)
c.1521C>A (p.Asp507Glu)
c.84C>A (p.Asp28Glu)
16g.56836708C=CA2224333823NUP93c.1890C= (p.Asp630=)
c.1521C= (p.Asp507=)
c.84C= (p.Asp28=)
16g.56836708C>GCA395993360NUP93c.1890C>G (p.Asp630Glu)
c.1521C>G (p.Asp507Glu)
c.84C>G (p.Asp28Glu)
16g.56836708C>TCA8068575NUP93c.1890C>T (p.Asp630=)
c.1521C>T (p.Asp507=)
c.84C>T (p.Asp28=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56836709C>ACA395993362NUP93c.1891C>A (p.Leu631Ile)
c.1522C>A (p.Leu508Ile)
c.85C>A (p.Leu29Ile)
 COSMIC
16g.56836709C>GCA395993364NUP93c.1891C>G (p.Leu631Val)
c.1522C>G (p.Leu508Val)
c.85C>G (p.Leu29Val)
16g.56836709C>TCA395993366NUP93c.1891C>T (p.Leu631Phe)
c.1522C>T (p.Leu508Phe)
c.85C>T (p.Leu29Phe)
16g.56836710T>ACA395993368NUP93c.1892T>A (p.Leu631His)
c.1523T>A (p.Leu508His)
c.86T>A (p.Leu29His)
16g.56836710T>CCA395993369NUP93c.1892T>C (p.Leu631Pro)
c.1523T>C (p.Leu508Pro)
c.86T>C (p.Leu29Pro)
16g.56836710T>GCA395993371NUP93c.1892T>G (p.Leu631Arg)
c.1523T>G (p.Leu508Arg)
c.86T>G (p.Leu29Arg)
16g.56836711T>ACA495602536NUP93c.1893T>A (p.Leu631=)
c.1524T>A (p.Leu508=)
c.87T>A (p.Leu29=)
16g.56836711T>CCA495602534NUP93c.1893T>C (p.Leu631=)
c.1524T>C (p.Leu508=)
c.87T>C (p.Leu29=)
16g.56836711T>GCA495602535NUP93c.1893T>G (p.Leu631=)
c.1524T>G (p.Leu508=)
c.87T>G (p.Leu29=)
16g.56836712G>ACA395993373NUP93c.1894G>A (p.Ala632Thr)
c.1525G>A (p.Ala509Thr)
c.88G>A (p.Ala30Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.56836712G>CCA395993377NUP93c.1894G>C (p.Ala632Pro)
c.1525G>C (p.Ala509Pro)
c.88G>C (p.Ala30Pro)
16g.56836712G=CA2224333824NUP93c.1894G= (p.Ala632=)
c.1525G= (p.Ala509=)
c.88G= (p.Ala30=)
16g.56836712G>TCA395993379NUP93c.1894G>T (p.Ala632Ser)
c.1525G>T (p.Ala509Ser)
c.88G>T (p.Ala30Ser)
16g.56836713C>ACA395993382NUP93c.1895C>A (p.Ala632Asp)
c.1526C>A (p.Ala509Asp)
c.89C>A (p.Ala30Asp)
 gnomAD v4
16g.56836713C=CA2224333825NUP93c.1895C= (p.Ala632=)
c.1526C= (p.Ala509=)
c.89C= (p.Ala30=)
16g.56836713C>GCA395993384NUP93c.1895C>G (p.Ala632Gly)
c.1526C>G (p.Ala509Gly)
c.89C>G (p.Ala30Gly)
 dbSNP gnomAD v4
16g.56836713C>TCA395993383NUP93c.1895C>T (p.Ala632Val)
c.1526C>T (p.Ala509Val)
c.89C>T (p.Ala30Val)
 gnomAD v4
16g.56836714C>ACA495602537NUP93c.1896C>A (p.Ala632=)
c.1527C>A (p.Ala509=)
c.90C>A (p.Ala30=)
 gnomAD v4
16g.56836714C>GCA495602538NUP93c.1896C>G (p.Ala632=)
c.1527C>G (p.Ala509=)
c.90C>G (p.Ala30=)
16g.56836714C>TCA495602539NUP93c.1896C>T (p.Ala632=)
c.1527C>T (p.Ala509=)
c.90C>T (p.Ala30=)
16g.56836715A=CA2224333826NUP93c.1897A= (p.Lys633=)
c.1528A= (p.Lys510=)
c.91A= (p.Lys31=)
16g.56836715A>CCA8068576NUP93c.1897A>C (p.Lys633Gln)
c.1528A>C (p.Lys510Gln)
c.91A>C (p.Lys31Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56836715A>GCA395993387NUP93c.1897A>G (p.Lys633Glu)
c.1528A>G (p.Lys510Glu)
c.91A>G (p.Lys31Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.56836715A>TCA395993389NUP93c.1897A>T (p.Lys633Ter)
c.1528A>T (p.Lys510Ter)
c.91A>T (p.Lys31Ter)
16g.56836716A=CA2224333827NUP93c.1898A= (p.Lys633=)
c.1529A= (p.Lys510=)
c.92A= (p.Lys31=)
16g.56836716A>CCA395993390NUP93c.1898A>C (p.Lys633Thr)
c.1529A>C (p.Lys510Thr)
c.92A>C (p.Lys31Thr)
 gnomAD v4
16g.56836716A>GCA395993392NUP93c.1898A>G (p.Lys633Arg)
c.1529A>G (p.Lys510Arg)
c.92A>G (p.Lys31Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56836716A>TCA395993393NUP93c.1898A>T (p.Lys633Met)
c.1529A>T (p.Lys510Met)
c.92A>T (p.Lys31Met)

Number of alleles fetched