Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.76112372_76112375delinsATTCCA1469470888ART3,NUP54c.1070-14_1070-11delinsATTC (n.1070-14_1070-11delinsATTC)
c.*1562_*1565delinsGAAT (n.*1562_*1565delinsGAAT)
c.938-14_938-11delinsATTC (n.938-14_938-11delinsATTC)
c.1037-14_1037-11delinsATTC (n.1037-14_1037-11delinsATTC)
c.971-14_971-11delinsATTC (n.971-14_971-11delinsATTC)
c.1004-14_1004-11delinsATTC (n.1004-14_1004-11delinsATTC)
n.172-14_172-11delinsATTC
n.268-14_268-11delinsATTC
n.260-14_260-11delinsATTC
n.235-14_235-11delinsATTC
n.477-14_477-11delinsATTC
n.579-14_579-11delinsATTC
c.326-14_326-11delinsATTC (n.326-14_326-11delinsATTC)
c.941-14_941-11delinsATTC (n.941-14_941-11delinsATTC)
c.1040-14_1040-11delinsATTC (n.1040-14_1040-11delinsATTC)
c.974-14_974-11delinsATTC (n.974-14_974-11delinsATTC)
c.914-14_914-11delinsATTC (n.914-14_914-11delinsATTC)
c.1007-14_1007-11delinsATTC (n.1007-14_1007-11delinsATTC)
n.2393-14_2393-11delinsATTC
n.2834-14_2834-11delinsATTC
c.908-14_908-11delinsATTC (n.908-14_908-11delinsATTC)
c.875-14_875-11delinsATTC (n.875-14_875-11delinsATTC)
c.848-14_848-11delinsATTC (n.848-14_848-11delinsATTC)
c.815-14_815-11delinsATTC (n.815-14_815-11delinsATTC)
c.782-14_782-11delinsATTC (n.782-14_782-11delinsATTC)
4g.76112375_76112377delCA1469470889ART3,NUP54c.1070-11_1070-9del (n.1070-11_1070-9del)
c.*1562_*1564del (n.*1562_*1564del)
c.938-11_938-9del (n.938-11_938-9del)
c.1037-11_1037-9del (n.1037-11_1037-9del)
c.971-11_971-9del (n.971-11_971-9del)
c.1004-11_1004-9del (n.1004-11_1004-9del)
n.172-11_172-9del
n.268-11_268-9del
n.260-11_260-9del
n.235-11_235-9del
n.477-11_477-9del
n.579-11_579-9del
c.326-11_326-9del (n.326-11_326-9del)
c.941-11_941-9del (n.941-11_941-9del)
c.1040-11_1040-9del (n.1040-11_1040-9del)
c.974-11_974-9del (n.974-11_974-9del)
c.914-11_914-9del (n.914-11_914-9del)
c.1007-11_1007-9del (n.1007-11_1007-9del)
n.2393-11_2393-9del
n.2834-11_2834-9del
c.908-11_908-9del (n.908-11_908-9del)
c.875-11_875-9del (n.875-11_875-9del)
c.848-11_848-9del (n.848-11_848-9del)
c.815-11_815-9del (n.815-11_815-9del)
c.782-11_782-9del (n.782-11_782-9del)
 dbSNP
4g.76112374T>GCA552346487ART3,NUP54c.1070-12T>G (n.1070-12T>G)
c.*1563A>C (n.*1563A>C)
c.938-12T>G (n.938-12T>G)
c.1037-12T>G (n.1037-12T>G)
c.971-12T>G (n.971-12T>G)
c.1004-12T>G (n.1004-12T>G)
n.172-12T>G
n.268-12T>G
n.260-12T>G
n.235-12T>G
n.477-12T>G
n.579-12T>G
c.326-12T>G (n.326-12T>G)
c.941-12T>G (n.941-12T>G)
c.1040-12T>G (n.1040-12T>G)
c.974-12T>G (n.974-12T>G)
c.914-12T>G (n.914-12T>G)
c.1007-12T>G (n.1007-12T>G)
n.2393-12T>G
n.2834-12T>G
c.908-12T>G (n.908-12T>G)
c.875-12T>G (n.875-12T>G)
c.848-12T>G (n.848-12T>G)
c.815-12T>G (n.815-12T>G)
c.782-12T>G (n.782-12T>G)
 dbSNP gnomAD v2 gnomAD v4
4g.76112374T=CA1469470891ART3,NUP54c.1070-12T= (n.1070-12T=)
c.*1563A= (n.*1563A=)
c.938-12T= (n.938-12T=)
c.1037-12T= (n.1037-12T=)
c.971-12T= (n.971-12T=)
c.1004-12T= (n.1004-12T=)
n.172-12T=
n.268-12T=
n.260-12T=
n.235-12T=
n.477-12T=
n.579-12T=
c.326-12T= (n.326-12T=)
c.941-12T= (n.941-12T=)
c.1040-12T= (n.1040-12T=)
c.974-12T= (n.974-12T=)
c.914-12T= (n.914-12T=)
c.1007-12T= (n.1007-12T=)
n.2393-12T=
n.2834-12T=
c.908-12T= (n.908-12T=)
c.875-12T= (n.875-12T=)
c.848-12T= (n.848-12T=)
c.815-12T= (n.815-12T=)
c.782-12T= (n.782-12T=)
4g.76112375C=CA1469470892ART3,NUP54c.1070-11C= (n.1070-11C=)
c.*1562G= (n.*1562G=)
c.938-11C= (n.938-11C=)
c.1037-11C= (n.1037-11C=)
c.971-11C= (n.971-11C=)
c.1004-11C= (n.1004-11C=)
n.172-11C=
n.268-11C=
n.260-11C=
n.235-11C=
n.477-11C=
n.579-11C=
c.326-11C= (n.326-11C=)
c.941-11C= (n.941-11C=)
c.1040-11C= (n.1040-11C=)
c.974-11C= (n.974-11C=)
c.914-11C= (n.914-11C=)
c.1007-11C= (n.1007-11C=)
n.2393-11C=
n.2834-11C=
c.908-11C= (n.908-11C=)
c.875-11C= (n.875-11C=)
c.848-11C= (n.848-11C=)
c.815-11C= (n.815-11C=)
c.782-11C= (n.782-11C=)
4g.76112375C>TCA1469470893ART3,NUP54c.1070-11C>T (n.1070-11C>T)
c.*1562G>A (n.*1562G>A)
c.938-11C>T (n.938-11C>T)
c.1037-11C>T (n.1037-11C>T)
c.971-11C>T (n.971-11C>T)
c.1004-11C>T (n.1004-11C>T)
n.172-11C>T
n.268-11C>T
n.260-11C>T
n.235-11C>T
n.477-11C>T
n.579-11C>T
c.326-11C>T (n.326-11C>T)
c.941-11C>T (n.941-11C>T)
c.1040-11C>T (n.1040-11C>T)
c.974-11C>T (n.974-11C>T)
c.914-11C>T (n.914-11C>T)
c.1007-11C>T (n.1007-11C>T)
n.2393-11C>T
n.2834-11C>T
c.908-11C>T (n.908-11C>T)
c.875-11C>T (n.875-11C>T)
c.848-11C>T (n.848-11C>T)
c.815-11C>T (n.815-11C>T)
c.782-11C>T (n.782-11C>T)
 dbSNP
4g.76112378_76112380delCA2671060425ART3,NUP54c.1070-8_1070-6del (n.1070-8_1070-6del)
c.*1559_*1561del (n.*1559_*1561del)
c.938-8_938-6del (n.938-8_938-6del)
c.1037-8_1037-6del (n.1037-8_1037-6del)
c.971-8_971-6del (n.971-8_971-6del)
c.1004-8_1004-6del (n.1004-8_1004-6del)
n.172-8_172-6del
n.268-8_268-6del
n.260-8_260-6del
n.235-8_235-6del
n.477-8_477-6del
n.579-8_579-6del
c.326-8_326-6del (n.326-8_326-6del)
c.941-8_941-6del (n.941-8_941-6del)
c.1040-8_1040-6del (n.1040-8_1040-6del)
c.974-8_974-6del (n.974-8_974-6del)
c.914-8_914-6del (n.914-8_914-6del)
c.1007-8_1007-6del (n.1007-8_1007-6del)
n.2393-8_2393-6del
n.2834-8_2834-6del
c.908-8_908-6del (n.908-8_908-6del)
c.875-8_875-6del (n.875-8_875-6del)
c.848-8_848-6del (n.848-8_848-6del)
c.815-8_815-6del (n.815-8_815-6del)
c.782-8_782-6del (n.782-8_782-6del)
 gnomAD v4
4g.76112377T>CCA2969570ART3,NUP54c.1070-9T>C (n.1070-9T>C)
c.*1560A>G (n.*1560A>G)
c.938-9T>C (n.938-9T>C)
c.1037-9T>C (n.1037-9T>C)
c.971-9T>C (n.971-9T>C)
c.1004-9T>C (n.1004-9T>C)
n.172-9T>C
n.268-9T>C
n.260-9T>C
n.235-9T>C
n.477-9T>C
n.579-9T>C
c.326-9T>C (n.326-9T>C)
c.941-9T>C (n.941-9T>C)
c.1040-9T>C (n.1040-9T>C)
c.974-9T>C (n.974-9T>C)
c.914-9T>C (n.914-9T>C)
c.1007-9T>C (n.1007-9T>C)
n.2393-9T>C
n.2834-9T>C
c.908-9T>C (n.908-9T>C)
c.875-9T>C (n.875-9T>C)
c.848-9T>C (n.848-9T>C)
c.815-9T>C (n.815-9T>C)
c.782-9T>C (n.782-9T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112377T>GCA2969571ART3,NUP54c.1070-9T>G (n.1070-9T>G)
c.*1560A>C (n.*1560A>C)
c.938-9T>G (n.938-9T>G)
c.1037-9T>G (n.1037-9T>G)
c.971-9T>G (n.971-9T>G)
c.1004-9T>G (n.1004-9T>G)
n.172-9T>G
n.268-9T>G
n.260-9T>G
n.235-9T>G
n.477-9T>G
n.579-9T>G
c.326-9T>G (n.326-9T>G)
c.941-9T>G (n.941-9T>G)
c.1040-9T>G (n.1040-9T>G)
c.974-9T>G (n.974-9T>G)
c.914-9T>G (n.914-9T>G)
c.1007-9T>G (n.1007-9T>G)
n.2393-9T>G
n.2834-9T>G
c.908-9T>G (n.908-9T>G)
c.875-9T>G (n.875-9T>G)
c.848-9T>G (n.848-9T>G)
c.815-9T>G (n.815-9T>G)
c.782-9T>G (n.782-9T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.76112377T=CA1469470898ART3,NUP54c.1070-9T= (n.1070-9T=)
c.*1560A= (n.*1560A=)
c.938-9T= (n.938-9T=)
c.1037-9T= (n.1037-9T=)
c.971-9T= (n.971-9T=)
c.1004-9T= (n.1004-9T=)
n.172-9T=
n.268-9T=
n.260-9T=
n.235-9T=
n.477-9T=
n.579-9T=
c.326-9T= (n.326-9T=)
c.941-9T= (n.941-9T=)
c.1040-9T= (n.1040-9T=)
c.974-9T= (n.974-9T=)
c.914-9T= (n.914-9T=)
c.1007-9T= (n.1007-9T=)
n.2393-9T=
n.2834-9T=
c.908-9T= (n.908-9T=)
c.875-9T= (n.875-9T=)
c.848-9T= (n.848-9T=)
c.815-9T= (n.815-9T=)
c.782-9T= (n.782-9T=)
4g.76112378G>ACA2578118480ART3,NUP54c.1070-8G>A (n.1070-8G>A)
c.*1559C>T (n.*1559C>T)
c.938-8G>A (n.938-8G>A)
c.1037-8G>A (n.1037-8G>A)
c.971-8G>A (n.971-8G>A)
c.1004-8G>A (n.1004-8G>A)
n.172-8G>A
n.268-8G>A
n.260-8G>A
n.235-8G>A
n.477-8G>A
n.579-8G>A
c.326-8G>A (n.326-8G>A)
c.941-8G>A (n.941-8G>A)
c.1040-8G>A (n.1040-8G>A)
c.974-8G>A (n.974-8G>A)
c.914-8G>A (n.914-8G>A)
c.1007-8G>A (n.1007-8G>A)
n.2393-8G>A
n.2834-8G>A
c.908-8G>A (n.908-8G>A)
c.875-8G>A (n.875-8G>A)
c.848-8G>A (n.848-8G>A)
c.815-8G>A (n.815-8G>A)
c.782-8G>A (n.782-8G>A)
 gnomAD v4
4g.76112378G>CCA2578118481ART3,NUP54c.1070-8G>C (n.1070-8G>C)
c.*1559C>G (n.*1559C>G)
c.938-8G>C (n.938-8G>C)
c.1037-8G>C (n.1037-8G>C)
c.971-8G>C (n.971-8G>C)
c.1004-8G>C (n.1004-8G>C)
n.172-8G>C
n.268-8G>C
n.260-8G>C
n.235-8G>C
n.477-8G>C
n.579-8G>C
c.326-8G>C (n.326-8G>C)
c.941-8G>C (n.941-8G>C)
c.1040-8G>C (n.1040-8G>C)
c.974-8G>C (n.974-8G>C)
c.914-8G>C (n.914-8G>C)
c.1007-8G>C (n.1007-8G>C)
n.2393-8G>C
n.2834-8G>C
c.908-8G>C (n.908-8G>C)
c.875-8G>C (n.875-8G>C)
c.848-8G>C (n.848-8G>C)
c.815-8G>C (n.815-8G>C)
c.782-8G>C (n.782-8G>C)
4g.76112378G=CA1469470902ART3,NUP54c.1070-8G= (n.1070-8G=)
c.*1559C= (n.*1559C=)
c.938-8G= (n.938-8G=)
c.1037-8G= (n.1037-8G=)
c.971-8G= (n.971-8G=)
c.1004-8G= (n.1004-8G=)
n.172-8G=
n.268-8G=
n.260-8G=
n.235-8G=
n.477-8G=
n.579-8G=
c.326-8G= (n.326-8G=)
c.941-8G= (n.941-8G=)
c.1040-8G= (n.1040-8G=)
c.974-8G= (n.974-8G=)
c.914-8G= (n.914-8G=)
c.1007-8G= (n.1007-8G=)
n.2393-8G=
n.2834-8G=
c.908-8G= (n.908-8G=)
c.875-8G= (n.875-8G=)
c.848-8G= (n.848-8G=)
c.815-8G= (n.815-8G=)
c.782-8G= (n.782-8G=)
4g.76112378G>TCA2969572ART3,NUP54c.1070-8G>T (n.1070-8G>T)
c.*1559C>A (n.*1559C>A)
c.938-8G>T (n.938-8G>T)
c.1037-8G>T (n.1037-8G>T)
c.971-8G>T (n.971-8G>T)
c.1004-8G>T (n.1004-8G>T)
n.172-8G>T
n.268-8G>T
n.260-8G>T
n.235-8G>T
n.477-8G>T
n.579-8G>T
c.326-8G>T (n.326-8G>T)
c.941-8G>T (n.941-8G>T)
c.1040-8G>T (n.1040-8G>T)
c.974-8G>T (n.974-8G>T)
c.914-8G>T (n.914-8G>T)
c.1007-8G>T (n.1007-8G>T)
n.2393-8G>T
n.2834-8G>T
c.908-8G>T (n.908-8G>T)
c.875-8G>T (n.875-8G>T)
c.848-8G>T (n.848-8G>T)
c.815-8G>T (n.815-8G>T)
c.782-8G>T (n.782-8G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112382A=CA1469470905ART3,NUP54c.1070-4A= (n.1070-4A=)
c.*1555T= (n.*1555T=)
c.938-4A= (n.938-4A=)
c.1037-4A= (n.1037-4A=)
c.971-4A= (n.971-4A=)
c.1004-4A= (n.1004-4A=)
n.172-4A=
n.268-4A=
n.260-4A=
n.235-4A=
n.477-4A=
n.579-4A=
c.326-4A= (n.326-4A=)
c.941-4A= (n.941-4A=)
c.1040-4A= (n.1040-4A=)
c.974-4A= (n.974-4A=)
c.914-4A= (n.914-4A=)
c.1007-4A= (n.1007-4A=)
n.2393-4A=
n.2834-4A=
c.908-4A= (n.908-4A=)
c.875-4A= (n.875-4A=)
c.848-4A= (n.848-4A=)
c.815-4A= (n.815-4A=)
c.782-4A= (n.782-4A=)
4g.76112382A>CCA2969573ART3,NUP54c.1070-4A>C (n.1070-4A>C)
c.*1555T>G (n.*1555T>G)
c.938-4A>C (n.938-4A>C)
c.1037-4A>C (n.1037-4A>C)
c.971-4A>C (n.971-4A>C)
c.1004-4A>C (n.1004-4A>C)
n.172-4A>C
n.268-4A>C
n.260-4A>C
n.235-4A>C
n.477-4A>C
n.579-4A>C
c.326-4A>C (n.326-4A>C)
c.941-4A>C (n.941-4A>C)
c.1040-4A>C (n.1040-4A>C)
c.974-4A>C (n.974-4A>C)
c.914-4A>C (n.914-4A>C)
c.1007-4A>C (n.1007-4A>C)
n.2393-4A>C
n.2834-4A>C
c.908-4A>C (n.908-4A>C)
c.875-4A>C (n.875-4A>C)
c.848-4A>C (n.848-4A>C)
c.815-4A>C (n.815-4A>C)
c.782-4A>C (n.782-4A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112383C>ACA2671060437ART3,NUP54c.1070-3C>A (n.1070-3C>A)
c.*1554G>T (n.*1554G>T)
c.938-3C>A (n.938-3C>A)
c.1037-3C>A (n.1037-3C>A)
c.971-3C>A (n.971-3C>A)
c.1004-3C>A (n.1004-3C>A)
n.172-3C>A
n.268-3C>A
n.260-3C>A
n.235-3C>A
n.477-3C>A
n.579-3C>A
c.326-3C>A (n.326-3C>A)
c.941-3C>A (n.941-3C>A)
c.1040-3C>A (n.1040-3C>A)
c.974-3C>A (n.974-3C>A)
c.914-3C>A (n.914-3C>A)
c.1007-3C>A (n.1007-3C>A)
n.2393-3C>A
n.2834-3C>A
c.908-3C>A (n.908-3C>A)
c.875-3C>A (n.875-3C>A)
c.848-3C>A (n.848-3C>A)
c.815-3C>A (n.815-3C>A)
c.782-3C>A (n.782-3C>A)
 gnomAD v4
4g.76112383C=CA1469470907ART3,NUP54c.1070-3C= (n.1070-3C=)
c.*1554G= (n.*1554G=)
c.938-3C= (n.938-3C=)
c.1037-3C= (n.1037-3C=)
c.971-3C= (n.971-3C=)
c.1004-3C= (n.1004-3C=)
n.172-3C=
n.268-3C=
n.260-3C=
n.235-3C=
n.477-3C=
n.579-3C=
c.326-3C= (n.326-3C=)
c.941-3C= (n.941-3C=)
c.1040-3C= (n.1040-3C=)
c.974-3C= (n.974-3C=)
c.914-3C= (n.914-3C=)
c.1007-3C= (n.1007-3C=)
n.2393-3C=
n.2834-3C=
c.908-3C= (n.908-3C=)
c.875-3C= (n.875-3C=)
c.848-3C= (n.848-3C=)
c.815-3C= (n.815-3C=)
c.782-3C= (n.782-3C=)
4g.76112383C>TCA552346488ART3,NUP54c.1070-3C>T (n.1070-3C>T)
c.*1554G>A (n.*1554G>A)
c.938-3C>T (n.938-3C>T)
c.1037-3C>T (n.1037-3C>T)
c.971-3C>T (n.971-3C>T)
c.1004-3C>T (n.1004-3C>T)
n.172-3C>T
n.268-3C>T
n.260-3C>T
n.235-3C>T
n.477-3C>T
n.579-3C>T
c.326-3C>T (n.326-3C>T)
c.941-3C>T (n.941-3C>T)
c.1040-3C>T (n.1040-3C>T)
c.974-3C>T (n.974-3C>T)
c.914-3C>T (n.914-3C>T)
c.1007-3C>T (n.1007-3C>T)
n.2393-3C>T
n.2834-3C>T
c.908-3C>T (n.908-3C>T)
c.875-3C>T (n.875-3C>T)
c.848-3C>T (n.848-3C>T)
c.815-3C>T (n.815-3C>T)
c.782-3C>T (n.782-3C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.76112384A>CCA357316987ART3,NUP54c.1070-2A>C (n.1070-2A>C)
c.*1553T>G (n.*1553T>G)
c.938-2A>C (n.938-2A>C)
c.1037-2A>C (n.1037-2A>C)
c.971-2A>C (n.971-2A>C)
c.1004-2A>C (n.1004-2A>C)
n.172-2A>C
n.268-2A>C
n.260-2A>C
n.235-2A>C
n.477-2A>C
n.579-2A>C
c.326-2A>C (n.326-2A>C)
c.941-2A>C (n.941-2A>C)
c.1040-2A>C (n.1040-2A>C)
c.974-2A>C (n.974-2A>C)
c.914-2A>C (n.914-2A>C)
c.1007-2A>C (n.1007-2A>C)
n.2393-2A>C
n.2834-2A>C
c.908-2A>C (n.908-2A>C)
c.875-2A>C (n.875-2A>C)
c.848-2A>C (n.848-2A>C)
c.815-2A>C (n.815-2A>C)
c.782-2A>C (n.782-2A>C)
4g.76112384A>GCA357316990ART3,NUP54c.1070-2A>G (n.1070-2A>G)
c.*1553T>C (n.*1553T>C)
c.938-2A>G (n.938-2A>G)
c.1037-2A>G (n.1037-2A>G)
c.971-2A>G (n.971-2A>G)
c.1004-2A>G (n.1004-2A>G)
n.172-2A>G
n.268-2A>G
n.260-2A>G
n.235-2A>G
n.477-2A>G
n.579-2A>G
c.326-2A>G (n.326-2A>G)
c.941-2A>G (n.941-2A>G)
c.1040-2A>G (n.1040-2A>G)
c.974-2A>G (n.974-2A>G)
c.914-2A>G (n.914-2A>G)
c.1007-2A>G (n.1007-2A>G)
n.2393-2A>G
n.2834-2A>G
c.908-2A>G (n.908-2A>G)
c.875-2A>G (n.875-2A>G)
c.848-2A>G (n.848-2A>G)
c.815-2A>G (n.815-2A>G)
c.782-2A>G (n.782-2A>G)
 gnomAD v4
4g.76112384A>TCA357316988ART3,NUP54c.1070-2A>T (n.1070-2A>T)
c.*1553T>A (n.*1553T>A)
c.938-2A>T (n.938-2A>T)
c.1037-2A>T (n.1037-2A>T)
c.971-2A>T (n.971-2A>T)
c.1004-2A>T (n.1004-2A>T)
n.172-2A>T
n.268-2A>T
n.260-2A>T
n.235-2A>T
n.477-2A>T
n.579-2A>T
c.326-2A>T (n.326-2A>T)
c.941-2A>T (n.941-2A>T)
c.1040-2A>T (n.1040-2A>T)
c.974-2A>T (n.974-2A>T)
c.914-2A>T (n.914-2A>T)
c.1007-2A>T (n.1007-2A>T)
n.2393-2A>T
n.2834-2A>T
c.908-2A>T (n.908-2A>T)
c.875-2A>T (n.875-2A>T)
c.848-2A>T (n.848-2A>T)
c.815-2A>T (n.815-2A>T)
c.782-2A>T (n.782-2A>T)
4g.76112385G>ACA357316993ART3,NUP54c.1070-1G>A (n.1070-1G>A)
c.*1552C>T (n.*1552C>T)
c.938-1G>A (n.938-1G>A)
c.1037-1G>A (n.1037-1G>A)
c.971-1G>A (n.971-1G>A)
c.1004-1G>A (n.1004-1G>A)
n.172-1G>A
n.268-1G>A
n.260-1G>A
n.235-1G>A
n.477-1G>A
n.579-1G>A
c.326-1G>A (n.326-1G>A)
c.941-1G>A (n.941-1G>A)
c.1040-1G>A (n.1040-1G>A)
c.974-1G>A (n.974-1G>A)
c.914-1G>A (n.914-1G>A)
c.1007-1G>A (n.1007-1G>A)
n.2393-1G>A
n.2834-1G>A
c.908-1G>A (n.908-1G>A)
c.875-1G>A (n.875-1G>A)
c.848-1G>A (n.848-1G>A)
c.815-1G>A (n.815-1G>A)
c.782-1G>A (n.782-1G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.76112385G>CCA357316995ART3,NUP54c.1070-1G>C (n.1070-1G>C)
c.*1552C>G (n.*1552C>G)
c.938-1G>C (n.938-1G>C)
c.1037-1G>C (n.1037-1G>C)
c.971-1G>C (n.971-1G>C)
c.1004-1G>C (n.1004-1G>C)
n.172-1G>C
n.268-1G>C
n.260-1G>C
n.235-1G>C
n.477-1G>C
n.579-1G>C
c.326-1G>C (n.326-1G>C)
c.941-1G>C (n.941-1G>C)
c.1040-1G>C (n.1040-1G>C)
c.974-1G>C (n.974-1G>C)
c.914-1G>C (n.914-1G>C)
c.1007-1G>C (n.1007-1G>C)
n.2393-1G>C
n.2834-1G>C
c.908-1G>C (n.908-1G>C)
c.875-1G>C (n.875-1G>C)
c.848-1G>C (n.848-1G>C)
c.815-1G>C (n.815-1G>C)
c.782-1G>C (n.782-1G>C)
4g.76112385G=CA1469470910ART3,NUP54c.1070-1G= (n.1070-1G=)
c.*1552C= (n.*1552C=)
c.938-1G= (n.938-1G=)
c.1037-1G= (n.1037-1G=)
c.971-1G= (n.971-1G=)
c.1004-1G= (n.1004-1G=)
n.172-1G=
n.268-1G=
n.260-1G=
n.235-1G=
n.477-1G=
n.579-1G=
c.326-1G= (n.326-1G=)
c.941-1G= (n.941-1G=)
c.1040-1G= (n.1040-1G=)
c.974-1G= (n.974-1G=)
c.914-1G= (n.914-1G=)
c.1007-1G= (n.1007-1G=)
n.2393-1G=
n.2834-1G=
c.908-1G= (n.908-1G=)
c.875-1G= (n.875-1G=)
c.848-1G= (n.848-1G=)
c.815-1G= (n.815-1G=)
c.782-1G= (n.782-1G=)
4g.76112385G>TCA357316994ART3,NUP54c.1070-1G>T (n.1070-1G>T)
c.*1552C>A (n.*1552C>A)
c.938-1G>T (n.938-1G>T)
c.1037-1G>T (n.1037-1G>T)
c.971-1G>T (n.971-1G>T)
c.1004-1G>T (n.1004-1G>T)
n.172-1G>T
n.268-1G>T
n.260-1G>T
n.235-1G>T
n.477-1G>T
n.579-1G>T
c.326-1G>T (n.326-1G>T)
c.941-1G>T (n.941-1G>T)
c.1040-1G>T (n.1040-1G>T)
c.974-1G>T (n.974-1G>T)
c.914-1G>T (n.914-1G>T)
c.1007-1G>T (n.1007-1G>T)
n.2393-1G>T
n.2834-1G>T
c.908-1G>T (n.908-1G>T)
c.875-1G>T (n.875-1G>T)
c.848-1G>T (n.848-1G>T)
c.815-1G>T (n.815-1G>T)
c.782-1G>T (n.782-1G>T)
4g.76112386C>ACA357316998ART3,NUP54c.1070C>A (p.Thr357Asn)
c.*1551G>T (n.*1551G>T)
c.938C>A (p.Ala313Asp)
c.1037C>A (p.Thr346Asn)
c.971C>A (p.Ala324Asp)
c.1004C>A (p.Thr335Asn)
n.172C>A
n.268C>A
n.260C>A
n.235C>A
n.477C>A
n.579C>A
c.326C>A (p.Thr109Asn)
c.1004C>A (p.Ala335Asp)
c.941C>A (p.Ala314Asp)
c.1040C>A (p.Thr347Asn)
c.974C>A (p.Thr325Asn)
c.974C>A (p.Ala325Asp)
c.914C>A (p.Ala305Asp)
c.1007C>A (p.Thr336Asn)
n.2393C>A
n.2834C>A
c.908C>A (p.Ala303Asp)
c.875C>A (p.Ala292Asp)
c.848C>A (p.Ala283Asp)
c.815C>A (p.Ala272Asp)
c.782C>A (p.Ala261Asp)
4g.76112386C>GCA357317000ART3,NUP54c.1070C>G (p.Thr357Ser)
c.*1551G>C (n.*1551G>C)
c.938C>G (p.Ala313Gly)
c.1037C>G (p.Thr346Ser)
c.971C>G (p.Ala324Gly)
c.1004C>G (p.Thr335Ser)
n.172C>G
n.268C>G
n.260C>G
n.235C>G
n.477C>G
n.579C>G
c.326C>G (p.Thr109Ser)
c.1004C>G (p.Ala335Gly)
c.941C>G (p.Ala314Gly)
c.1040C>G (p.Thr347Ser)
c.974C>G (p.Thr325Ser)
c.974C>G (p.Ala325Gly)
c.914C>G (p.Ala305Gly)
c.1007C>G (p.Thr336Ser)
n.2393C>G
n.2834C>G
c.908C>G (p.Ala303Gly)
c.875C>G (p.Ala292Gly)
c.848C>G (p.Ala283Gly)
c.815C>G (p.Ala272Gly)
c.782C>G (p.Ala261Gly)
4g.76112386C>TCA357317002ART3,NUP54c.1070C>T (p.Thr357Ile)
c.*1551G>A (n.*1551G>A)
c.938C>T (p.Ala313Val)
c.1037C>T (p.Thr346Ile)
c.971C>T (p.Ala324Val)
c.1004C>T (p.Thr335Ile)
n.172C>T
n.268C>T
n.260C>T
n.235C>T
n.477C>T
n.579C>T
c.326C>T (p.Thr109Ile)
c.1004C>T (p.Ala335Val)
c.941C>T (p.Ala314Val)
c.1040C>T (p.Thr347Ile)
c.974C>T (p.Thr325Ile)
c.974C>T (p.Ala325Val)
c.914C>T (p.Ala305Val)
c.1007C>T (p.Thr336Ile)
n.2393C>T
n.2834C>T
c.908C>T (p.Ala303Val)
c.875C>T (p.Ala292Val)
c.848C>T (p.Ala283Val)
c.815C>T (p.Ala272Val)
c.782C>T (p.Ala261Val)
 gnomAD v4
4g.76112387T>ACA439955911ART3,NUP54c.1071T>A (p.Thr357=)
c.*1550A>T (n.*1550A>T)
c.939T>A (p.Ala313=)
c.1038T>A (p.Thr346=)
c.972T>A (p.Ala324=)
c.1005T>A (p.Thr335=)
n.173T>A
n.269T>A
n.261T>A
n.236T>A
n.478T>A
n.580T>A
c.327T>A (p.Thr109=)
c.1005T>A (p.Ala335=)
c.942T>A (p.Ala314=)
c.1041T>A (p.Thr347=)
c.975T>A (p.Thr325=)
c.975T>A (p.Ala325=)
c.915T>A (p.Ala305=)
c.1008T>A (p.Thr336=)
n.2394T>A
n.2835T>A
c.909T>A (p.Ala303=)
c.876T>A (p.Ala292=)
c.849T>A (p.Ala283=)
c.816T>A (p.Ala272=)
c.783T>A (p.Ala261=)
4g.76112387T>CCA439955913ART3,NUP54c.1071T>C (p.Thr357=)
c.*1550A>G (n.*1550A>G)
c.939T>C (p.Ala313=)
c.1038T>C (p.Thr346=)
c.972T>C (p.Ala324=)
c.1005T>C (p.Thr335=)
n.173T>C
n.269T>C
n.261T>C
n.236T>C
n.478T>C
n.580T>C
c.327T>C (p.Thr109=)
c.1005T>C (p.Ala335=)
c.942T>C (p.Ala314=)
c.1041T>C (p.Thr347=)
c.975T>C (p.Thr325=)
c.975T>C (p.Ala325=)
c.915T>C (p.Ala305=)
c.1008T>C (p.Thr336=)
n.2394T>C
n.2835T>C
c.909T>C (p.Ala303=)
c.876T>C (p.Ala292=)
c.849T>C (p.Ala283=)
c.816T>C (p.Ala272=)
c.783T>C (p.Ala261=)
4g.76112387T>GCA439955912ART3,NUP54c.1071T>G (p.Thr357=)
c.*1550A>C (n.*1550A>C)
c.939T>G (p.Ala313=)
c.1038T>G (p.Thr346=)
c.972T>G (p.Ala324=)
c.1005T>G (p.Thr335=)
n.173T>G
n.269T>G
n.261T>G
n.236T>G
n.478T>G
n.580T>G
c.327T>G (p.Thr109=)
c.1005T>G (p.Ala335=)
c.942T>G (p.Ala314=)
c.1041T>G (p.Thr347=)
c.975T>G (p.Thr325=)
c.975T>G (p.Ala325=)
c.915T>G (p.Ala305=)
c.1008T>G (p.Thr336=)
n.2394T>G
n.2835T>G
c.909T>G (p.Ala303=)
c.876T>G (p.Ala292=)
c.849T>G (p.Ala283=)
c.816T>G (p.Ala272=)
c.783T>G (p.Ala261=)
4g.76112396_76112413dupCA2706309275ART3,NUP54c.1080_1097dup (p.Pro366_Lys367insValProValProGlyPro)
c.*1533_*1550dup (n.*1533_*1550dup)
c.948_965dup (p.Pro322_Lys323insValProValProGlyPro)
c.1047_1064dup (p.Pro355_Lys356insValProValProGlyPro)
c.981_998dup (p.Pro333_Lys334insValProValProGlyPro)
c.1014_1031dup (p.Pro344_Lys345insValProValProGlyPro)
n.182_199dup
n.278_295dup
n.245_262dup
n.487_504dup
n.589_606dup
c.951_968dup (p.Pro323_Lys324insValProValProGlyPro)
c.1050_1067dup (p.Pro356_Lys357insValProValProGlyPro)
c.984_1001dup (p.Pro334_Lys335insValProValProGlyPro)
c.924_941dup (p.Pro314_Lys315insValProValProGlyPro)
c.1017_1034dup (p.Pro345_Lys346insValProValProGlyPro)
n.2403_2420dup
n.2844_2861dup
c.918_935dup (p.Pro312_Lys313insValProValProGlyPro)
c.885_902dup (p.Pro301_Lys302insValProValProGlyPro)
c.858_875dup (p.Pro292_Lys293insValProValProGlyPro)
c.825_842dup (p.Pro281_Lys282insValProValProGlyPro)
c.792_809dup (p.Pro270_Lys271insValProValProGlyPro)
 dbSNP
4g.76112388C>ACA357317004ART3,NUP54c.1072C>A (p.Pro358Thr)
c.*1549G>T (n.*1549G>T)
c.940C>A (p.Pro314Thr)
c.1039C>A (p.Pro347Thr)
c.973C>A (p.Pro325Thr)
c.1006C>A (p.Pro336Thr)
n.174C>A
n.270C>A
n.262C>A
n.237C>A
n.479C>A
n.581C>A
c.328C>A (p.Pro110Thr)
c.943C>A (p.Pro315Thr)
c.1042C>A (p.Pro348Thr)
c.976C>A (p.Pro326Thr)
c.916C>A (p.Pro306Thr)
c.1009C>A (p.Pro337Thr)
n.2395C>A
n.2836C>A
c.910C>A (p.Pro304Thr)
c.877C>A (p.Pro293Thr)
c.850C>A (p.Pro284Thr)
c.817C>A (p.Pro273Thr)
c.784C>A (p.Pro262Thr)
4g.76112388C>GCA357317006ART3,NUP54c.1072C>G (p.Pro358Ala)
c.*1549G>C (n.*1549G>C)
c.940C>G (p.Pro314Ala)
c.1039C>G (p.Pro347Ala)
c.973C>G (p.Pro325Ala)
c.1006C>G (p.Pro336Ala)
n.174C>G
n.270C>G
n.262C>G
n.237C>G
n.479C>G
n.581C>G
c.328C>G (p.Pro110Ala)
c.943C>G (p.Pro315Ala)
c.1042C>G (p.Pro348Ala)
c.976C>G (p.Pro326Ala)
c.916C>G (p.Pro306Ala)
c.1009C>G (p.Pro337Ala)
n.2395C>G
n.2836C>G
c.910C>G (p.Pro304Ala)
c.877C>G (p.Pro293Ala)
c.850C>G (p.Pro284Ala)
c.817C>G (p.Pro273Ala)
c.784C>G (p.Pro262Ala)
4g.76112388C>TCA357317007ART3,NUP54c.1072C>T (p.Pro358Ser)
c.*1549G>A (n.*1549G>A)
c.940C>T (p.Pro314Ser)
c.1039C>T (p.Pro347Ser)
c.973C>T (p.Pro325Ser)
c.1006C>T (p.Pro336Ser)
n.174C>T
n.270C>T
n.262C>T
n.237C>T
n.479C>T
n.581C>T
c.328C>T (p.Pro110Ser)
c.943C>T (p.Pro315Ser)
c.1042C>T (p.Pro348Ser)
c.976C>T (p.Pro326Ser)
c.916C>T (p.Pro306Ser)
c.1009C>T (p.Pro337Ser)
n.2395C>T
n.2836C>T
c.910C>T (p.Pro304Ser)
c.877C>T (p.Pro293Ser)
c.850C>T (p.Pro284Ser)
c.817C>T (p.Pro273Ser)
c.784C>T (p.Pro262Ser)
4g.76112389C>ACA357317013ART3,NUP54c.1073C>A (p.Pro358Gln)
c.*1548G>T (n.*1548G>T)
c.941C>A (p.Pro314Gln)
c.1040C>A (p.Pro347Gln)
c.974C>A (p.Pro325Gln)
c.1007C>A (p.Pro336Gln)
n.175C>A
n.271C>A
n.263C>A
n.238C>A
n.480C>A
n.582C>A
c.329C>A (p.Pro110Gln)
c.944C>A (p.Pro315Gln)
c.1043C>A (p.Pro348Gln)
c.977C>A (p.Pro326Gln)
c.917C>A (p.Pro306Gln)
c.1010C>A (p.Pro337Gln)
n.2396C>A
n.2837C>A
c.911C>A (p.Pro304Gln)
c.878C>A (p.Pro293Gln)
c.851C>A (p.Pro284Gln)
c.818C>A (p.Pro273Gln)
c.785C>A (p.Pro262Gln)
4g.76112389C>GCA357317012ART3,NUP54c.1073C>G (p.Pro358Arg)
c.*1548G>C (n.*1548G>C)
c.941C>G (p.Pro314Arg)
c.1040C>G (p.Pro347Arg)
c.974C>G (p.Pro325Arg)
c.1007C>G (p.Pro336Arg)
n.175C>G
n.271C>G
n.263C>G
n.238C>G
n.480C>G
n.582C>G
c.329C>G (p.Pro110Arg)
c.944C>G (p.Pro315Arg)
c.1043C>G (p.Pro348Arg)
c.977C>G (p.Pro326Arg)
c.917C>G (p.Pro306Arg)
c.1010C>G (p.Pro337Arg)
n.2396C>G
n.2837C>G
c.911C>G (p.Pro304Arg)
c.878C>G (p.Pro293Arg)
c.851C>G (p.Pro284Arg)
c.818C>G (p.Pro273Arg)
c.785C>G (p.Pro262Arg)
4g.76112389C>TCA357317011ART3,NUP54c.1073C>T (p.Pro358Leu)
c.*1548G>A (n.*1548G>A)
c.941C>T (p.Pro314Leu)
c.1040C>T (p.Pro347Leu)
c.974C>T (p.Pro325Leu)
c.1007C>T (p.Pro336Leu)
n.175C>T
n.271C>T
n.263C>T
n.238C>T
n.480C>T
n.582C>T
c.329C>T (p.Pro110Leu)
c.944C>T (p.Pro315Leu)
c.1043C>T (p.Pro348Leu)
c.977C>T (p.Pro326Leu)
c.917C>T (p.Pro306Leu)
c.1010C>T (p.Pro337Leu)
n.2396C>T
n.2837C>T
c.911C>T (p.Pro304Leu)
c.878C>T (p.Pro293Leu)
c.851C>T (p.Pro284Leu)
c.818C>T (p.Pro273Leu)
c.785C>T (p.Pro262Leu)
4g.76112390A>CCA439955915ART3,NUP54c.1074A>C (p.Pro358=)
c.*1547T>G (n.*1547T>G)
c.942A>C (p.Pro314=)
c.1041A>C (p.Pro347=)
c.975A>C (p.Pro325=)
c.1008A>C (p.Pro336=)
n.176A>C
n.272A>C
n.264A>C
n.239A>C
n.481A>C
n.583A>C
c.330A>C (p.Pro110=)
c.945A>C (p.Pro315=)
c.1044A>C (p.Pro348=)
c.978A>C (p.Pro326=)
c.918A>C (p.Pro306=)
c.1011A>C (p.Pro337=)
n.2397A>C
n.2838A>C
c.912A>C (p.Pro304=)
c.879A>C (p.Pro293=)
c.852A>C (p.Pro284=)
c.819A>C (p.Pro273=)
c.786A>C (p.Pro262=)
4g.76112390A>GCA439955916ART3,NUP54c.1074A>G (p.Pro358=)
c.*1547T>C (n.*1547T>C)
c.942A>G (p.Pro314=)
c.1041A>G (p.Pro347=)
c.975A>G (p.Pro325=)
c.1008A>G (p.Pro336=)
n.176A>G
n.272A>G
n.264A>G
n.239A>G
n.481A>G
n.583A>G
c.330A>G (p.Pro110=)
c.945A>G (p.Pro315=)
c.1044A>G (p.Pro348=)
c.978A>G (p.Pro326=)
c.918A>G (p.Pro306=)
c.1011A>G (p.Pro337=)
n.2397A>G
n.2838A>G
c.912A>G (p.Pro304=)
c.879A>G (p.Pro293=)
c.852A>G (p.Pro284=)
c.819A>G (p.Pro273=)
c.786A>G (p.Pro262=)
4g.76112390A>TCA439955917ART3,NUP54c.1074A>T (p.Pro358=)
c.*1547T>A (n.*1547T>A)
c.942A>T (p.Pro314=)
c.1041A>T (p.Pro347=)
c.975A>T (p.Pro325=)
c.1008A>T (p.Pro336=)
n.176A>T
n.272A>T
n.264A>T
n.239A>T
n.481A>T
n.583A>T
c.330A>T (p.Pro110=)
c.945A>T (p.Pro315=)
c.1044A>T (p.Pro348=)
c.978A>T (p.Pro326=)
c.918A>T (p.Pro306=)
c.1011A>T (p.Pro337=)
n.2397A>T
n.2838A>T
c.912A>T (p.Pro304=)
c.879A>T (p.Pro293=)
c.852A>T (p.Pro284=)
c.819A>T (p.Pro273=)
c.786A>T (p.Pro262=)
4g.76112391G>ACA2969574ART3,NUP54c.1075G>A (p.Gly359Ser)
c.*1546C>T (n.*1546C>T)
c.943G>A (p.Gly315Ser)
c.1042G>A (p.Gly348Ser)
c.976G>A (p.Gly326Ser)
c.1009G>A (p.Gly337Ser)
n.177G>A
n.273G>A
n.265G>A
n.240G>A
n.482G>A
n.584G>A
c.331G>A (p.Gly111Ser)
c.946G>A (p.Gly316Ser)
c.1045G>A (p.Gly349Ser)
c.979G>A (p.Gly327Ser)
c.919G>A (p.Gly307Ser)
c.1012G>A (p.Gly338Ser)
n.2398G>A
n.2839G>A
c.913G>A (p.Gly305Ser)
c.880G>A (p.Gly294Ser)
c.853G>A (p.Gly285Ser)
c.820G>A (p.Gly274Ser)
c.787G>A (p.Gly263Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112391G>CCA357317016ART3,NUP54c.1075G>C (p.Gly359Arg)
c.*1546C>G (n.*1546C>G)
c.943G>C (p.Gly315Arg)
c.1042G>C (p.Gly348Arg)
c.976G>C (p.Gly326Arg)
c.1009G>C (p.Gly337Arg)
n.177G>C
n.273G>C
n.265G>C
n.240G>C
n.482G>C
n.584G>C
c.331G>C (p.Gly111Arg)
c.946G>C (p.Gly316Arg)
c.1045G>C (p.Gly349Arg)
c.979G>C (p.Gly327Arg)
c.919G>C (p.Gly307Arg)
c.1012G>C (p.Gly338Arg)
n.2398G>C
n.2839G>C
c.913G>C (p.Gly305Arg)
c.880G>C (p.Gly294Arg)
c.853G>C (p.Gly285Arg)
c.820G>C (p.Gly274Arg)
c.787G>C (p.Gly263Arg)
4g.76112391G=CA1469470913ART3,NUP54c.1075G= (p.Gly359=)
c.*1546C= (n.*1546C=)
c.943G= (p.Gly315=)
c.1042G= (p.Gly348=)
c.976G= (p.Gly326=)
c.1009G= (p.Gly337=)
n.177G=
n.273G=
n.265G=
n.240G=
n.482G=
n.584G=
c.331G= (p.Gly111=)
c.946G= (p.Gly316=)
c.1045G= (p.Gly349=)
c.979G= (p.Gly327=)
c.919G= (p.Gly307=)
c.1012G= (p.Gly338=)
n.2398G=
n.2839G=
c.913G= (p.Gly305=)
c.880G= (p.Gly294=)
c.853G= (p.Gly285=)
c.820G= (p.Gly274=)
c.787G= (p.Gly263=)
4g.76112391G>TCA357317017ART3,NUP54c.1075G>T (p.Gly359Cys)
c.*1546C>A (n.*1546C>A)
c.943G>T (p.Gly315Cys)
c.1042G>T (p.Gly348Cys)
c.976G>T (p.Gly326Cys)
c.1009G>T (p.Gly337Cys)
n.177G>T
n.273G>T
n.265G>T
n.240G>T
n.482G>T
n.584G>T
c.331G>T (p.Gly111Cys)
c.946G>T (p.Gly316Cys)
c.1045G>T (p.Gly349Cys)
c.979G>T (p.Gly327Cys)
c.919G>T (p.Gly307Cys)
c.1012G>T (p.Gly338Cys)
n.2398G>T
n.2839G>T
c.913G>T (p.Gly305Cys)
c.880G>T (p.Gly294Cys)
c.853G>T (p.Gly285Cys)
c.820G>T (p.Gly274Cys)
c.787G>T (p.Gly263Cys)
4g.76112392G>ACA357317020ART3,NUP54c.1076G>A (p.Gly359Asp)
c.*1545C>T (n.*1545C>T)
c.944G>A (p.Gly315Asp)
c.1043G>A (p.Gly348Asp)
c.977G>A (p.Gly326Asp)
c.1010G>A (p.Gly337Asp)
n.178G>A
n.274G>A
n.266G>A
n.241G>A
n.483G>A
n.585G>A
c.332G>A (p.Gly111Asp)
c.947G>A (p.Gly316Asp)
c.1046G>A (p.Gly349Asp)
c.980G>A (p.Gly327Asp)
c.920G>A (p.Gly307Asp)
c.1013G>A (p.Gly338Asp)
n.2399G>A
n.2840G>A
c.914G>A (p.Gly305Asp)
c.881G>A (p.Gly294Asp)
c.854G>A (p.Gly285Asp)
c.821G>A (p.Gly274Asp)
c.788G>A (p.Gly263Asp)
4g.76112392G>CCA357317022ART3,NUP54c.1076G>C (p.Gly359Ala)
c.*1545C>G (n.*1545C>G)
c.944G>C (p.Gly315Ala)
c.1043G>C (p.Gly348Ala)
c.977G>C (p.Gly326Ala)
c.1010G>C (p.Gly337Ala)
n.178G>C
n.274G>C
n.266G>C
n.241G>C
n.483G>C
n.585G>C
c.332G>C (p.Gly111Ala)
c.947G>C (p.Gly316Ala)
c.1046G>C (p.Gly349Ala)
c.980G>C (p.Gly327Ala)
c.920G>C (p.Gly307Ala)
c.1013G>C (p.Gly338Ala)
n.2399G>C
n.2840G>C
c.914G>C (p.Gly305Ala)
c.881G>C (p.Gly294Ala)
c.854G>C (p.Gly285Ala)
c.821G>C (p.Gly274Ala)
c.788G>C (p.Gly263Ala)
4g.76112392G>TCA357317024ART3,NUP54c.1076G>T (p.Gly359Val)
c.*1545C>A (n.*1545C>A)
c.944G>T (p.Gly315Val)
c.1043G>T (p.Gly348Val)
c.977G>T (p.Gly326Val)
c.1010G>T (p.Gly337Val)
n.178G>T
n.274G>T
n.266G>T
n.241G>T
n.483G>T
n.585G>T
c.332G>T (p.Gly111Val)
c.947G>T (p.Gly316Val)
c.1046G>T (p.Gly349Val)
c.980G>T (p.Gly327Val)
c.920G>T (p.Gly307Val)
c.1013G>T (p.Gly338Val)
n.2399G>T
n.2840G>T
c.914G>T (p.Gly305Val)
c.881G>T (p.Gly294Val)
c.854G>T (p.Gly285Val)
c.821G>T (p.Gly274Val)
c.788G>T (p.Gly263Val)
4g.76112393T>ACA439955919ART3,NUP54c.1077T>A (p.Gly359=)
c.*1544A>T (n.*1544A>T)
c.945T>A (p.Gly315=)
c.1044T>A (p.Gly348=)
c.978T>A (p.Gly326=)
c.1011T>A (p.Gly337=)
n.179T>A
n.275T>A
n.267T>A
n.242T>A
n.484T>A
n.586T>A
c.333T>A (p.Gly111=)
c.948T>A (p.Gly316=)
c.1047T>A (p.Gly349=)
c.981T>A (p.Gly327=)
c.921T>A (p.Gly307=)
c.1014T>A (p.Gly338=)
n.2400T>A
n.2841T>A
c.915T>A (p.Gly305=)
c.882T>A (p.Gly294=)
c.855T>A (p.Gly285=)
c.822T>A (p.Gly274=)
c.789T>A (p.Gly263=)
 dbSNP
4g.76112393T>CCA439955921ART3,NUP54c.1077T>C (p.Gly359=)
c.*1544A>G (n.*1544A>G)
c.945T>C (p.Gly315=)
c.1044T>C (p.Gly348=)
c.978T>C (p.Gly326=)
c.1011T>C (p.Gly337=)
n.179T>C
n.275T>C
n.267T>C
n.242T>C
n.484T>C
n.586T>C
c.333T>C (p.Gly111=)
c.948T>C (p.Gly316=)
c.1047T>C (p.Gly349=)
c.981T>C (p.Gly327=)
c.921T>C (p.Gly307=)
c.1014T>C (p.Gly338=)
n.2400T>C
n.2841T>C
c.915T>C (p.Gly305=)
c.882T>C (p.Gly294=)
c.855T>C (p.Gly285=)
c.822T>C (p.Gly274=)
c.789T>C (p.Gly263=)
4g.76112393T>GCA439955920ART3,NUP54c.1077T>G (p.Gly359=)
c.*1544A>C (n.*1544A>C)
c.945T>G (p.Gly315=)
c.1044T>G (p.Gly348=)
c.978T>G (p.Gly326=)
c.1011T>G (p.Gly337=)
n.179T>G
n.275T>G
n.267T>G
n.242T>G
n.484T>G
n.586T>G
c.333T>G (p.Gly111=)
c.948T>G (p.Gly316=)
c.1047T>G (p.Gly349=)
c.981T>G (p.Gly327=)
c.921T>G (p.Gly307=)
c.1014T>G (p.Gly338=)
n.2400T>G
n.2841T>G
c.915T>G (p.Gly305=)
c.882T>G (p.Gly294=)
c.855T>G (p.Gly285=)
c.822T>G (p.Gly274=)
c.789T>G (p.Gly263=)
4g.76112393T=CA1469470916ART3,NUP54c.1077T= (p.Gly359=)
c.*1544A= (n.*1544A=)
c.945T= (p.Gly315=)
c.1044T= (p.Gly348=)
c.978T= (p.Gly326=)
c.1011T= (p.Gly337=)
n.179T=
n.275T=
n.267T=
n.242T=
n.484T=
n.586T=
c.333T= (p.Gly111=)
c.948T= (p.Gly316=)
c.1047T= (p.Gly349=)
c.981T= (p.Gly327=)
c.921T= (p.Gly307=)
c.1014T= (p.Gly338=)
n.2400T=
n.2841T=
c.915T= (p.Gly305=)
c.882T= (p.Gly294=)
c.855T= (p.Gly285=)
c.822T= (p.Gly274=)
c.789T= (p.Gly263=)
4g.76112396_76112401dupCA2671060444ART3,NUP54c.1080_1085dup (p.Pro362_Val363insValPro)
c.*1539_*1544dup (n.*1539_*1544dup)
c.948_953dup (p.Pro318_Val319insValPro)
c.1047_1052dup (p.Pro351_Val352insValPro)
c.981_986dup (p.Pro329_Val330insValPro)
c.1014_1019dup (p.Pro340_Val341insValPro)
n.182_187dup
n.278_283dup
n.270_275dup
n.245_250dup
n.487_492dup
n.589_594dup
c.336_341dup (p.Pro114_Val115insValPro)
c.951_956dup (p.Pro319_Val320insValPro)
c.1050_1055dup (p.Pro352_Val353insValPro)
c.984_989dup (p.Pro330_Val331insValPro)
c.924_929dup (p.Pro310_Val311insValPro)
c.1017_1022dup (p.Pro341_Val342insValPro)
n.2403_2408dup
n.2844_2849dup
c.918_923dup (p.Pro308_Val309insValPro)
c.885_890dup (p.Pro297_Val298insValPro)
c.858_863dup (p.Pro288_Val289insValPro)
c.825_830dup (p.Pro277_Val278insValPro)
c.792_797dup (p.Pro266_Val267insValPro)
 gnomAD v4
4g.76112394C>ACA357317026ART3,NUP54c.1078C>A (p.Pro360Thr)
c.*1543G>T (n.*1543G>T)
c.946C>A (p.Pro316Thr)
c.1045C>A (p.Pro349Thr)
c.979C>A (p.Pro327Thr)
c.1012C>A (p.Pro338Thr)
n.180C>A
n.276C>A
n.268C>A
n.243C>A
n.485C>A
n.587C>A
c.334C>A (p.Pro112Thr)
c.949C>A (p.Pro317Thr)
c.1048C>A (p.Pro350Thr)
c.982C>A (p.Pro328Thr)
c.922C>A (p.Pro308Thr)
c.1015C>A (p.Pro339Thr)
n.2401C>A
n.2842C>A
c.916C>A (p.Pro306Thr)
c.883C>A (p.Pro295Thr)
c.856C>A (p.Pro286Thr)
c.823C>A (p.Pro275Thr)
c.790C>A (p.Pro264Thr)
4g.76112394C=CA1469470923ART3,NUP54c.1078C= (p.Pro360=)
c.*1543G= (n.*1543G=)
c.946C= (p.Pro316=)
c.1045C= (p.Pro349=)
c.979C= (p.Pro327=)
c.1012C= (p.Pro338=)
n.180C=
n.276C=
n.268C=
n.243C=
n.485C=
n.587C=
c.334C= (p.Pro112=)
c.949C= (p.Pro317=)
c.1048C= (p.Pro350=)
c.982C= (p.Pro328=)
c.922C= (p.Pro308=)
c.1015C= (p.Pro339=)
n.2401C=
n.2842C=
c.916C= (p.Pro306=)
c.883C= (p.Pro295=)
c.856C= (p.Pro286=)
c.823C= (p.Pro275=)
c.790C= (p.Pro264=)
4g.76112394C>GCA99882474ART3,NUP54c.1078C>G (p.Pro360Ala)
c.*1543G>C (n.*1543G>C)
c.946C>G (p.Pro316Ala)
c.1045C>G (p.Pro349Ala)
c.979C>G (p.Pro327Ala)
c.1012C>G (p.Pro338Ala)
n.180C>G
n.276C>G
n.268C>G
n.243C>G
n.485C>G
n.587C>G
c.334C>G (p.Pro112Ala)
c.949C>G (p.Pro317Ala)
c.1048C>G (p.Pro350Ala)
c.982C>G (p.Pro328Ala)
c.922C>G (p.Pro308Ala)
c.1015C>G (p.Pro339Ala)
n.2401C>G
n.2842C>G
c.916C>G (p.Pro306Ala)
c.883C>G (p.Pro295Ala)
c.856C>G (p.Pro286Ala)
c.823C>G (p.Pro275Ala)
c.790C>G (p.Pro264Ala)
 dbSNP gnomAD v4
4g.76112394C>TCA357317027ART3,NUP54c.1078C>T (p.Pro360Ser)
c.*1543G>A (n.*1543G>A)
c.946C>T (p.Pro316Ser)
c.1045C>T (p.Pro349Ser)
c.979C>T (p.Pro327Ser)
c.1012C>T (p.Pro338Ser)
n.180C>T
n.276C>T
n.268C>T
n.243C>T
n.485C>T
n.587C>T
c.334C>T (p.Pro112Ser)
c.949C>T (p.Pro317Ser)
c.1048C>T (p.Pro350Ser)
c.982C>T (p.Pro328Ser)
c.922C>T (p.Pro308Ser)
c.1015C>T (p.Pro339Ser)
n.2401C>T
n.2842C>T
c.916C>T (p.Pro306Ser)
c.883C>T (p.Pro295Ser)
c.856C>T (p.Pro286Ser)
c.823C>T (p.Pro275Ser)
c.790C>T (p.Pro264Ser)
 gnomAD v4
4g.76112395C>ACA357317031ART3,NUP54c.1079C>A (p.Pro360Gln)
c.*1542G>T (n.*1542G>T)
c.947C>A (p.Pro316Gln)
c.1046C>A (p.Pro349Gln)
c.980C>A (p.Pro327Gln)
c.1013C>A (p.Pro338Gln)
n.181C>A
n.277C>A
n.269C>A
n.244C>A
n.486C>A
n.588C>A
c.335C>A (p.Pro112Gln)
c.950C>A (p.Pro317Gln)
c.1049C>A (p.Pro350Gln)
c.983C>A (p.Pro328Gln)
c.923C>A (p.Pro308Gln)
c.1016C>A (p.Pro339Gln)
n.2402C>A
n.2843C>A
c.917C>A (p.Pro306Gln)
c.884C>A (p.Pro295Gln)
c.857C>A (p.Pro286Gln)
c.824C>A (p.Pro275Gln)
c.791C>A (p.Pro264Gln)
4g.76112395C>GCA357317032ART3,NUP54c.1079C>G (p.Pro360Arg)
c.*1542G>C (n.*1542G>C)
c.947C>G (p.Pro316Arg)
c.1046C>G (p.Pro349Arg)
c.980C>G (p.Pro327Arg)
c.1013C>G (p.Pro338Arg)
n.181C>G
n.277C>G
n.269C>G
n.244C>G
n.486C>G
n.588C>G
c.335C>G (p.Pro112Arg)
c.950C>G (p.Pro317Arg)
c.1049C>G (p.Pro350Arg)
c.983C>G (p.Pro328Arg)
c.923C>G (p.Pro308Arg)
c.1016C>G (p.Pro339Arg)
n.2402C>G
n.2843C>G
c.917C>G (p.Pro306Arg)
c.884C>G (p.Pro295Arg)
c.857C>G (p.Pro286Arg)
c.824C>G (p.Pro275Arg)
c.791C>G (p.Pro264Arg)
4g.76112395C>TCA357317034ART3,NUP54c.1079C>T (p.Pro360Leu)
c.*1542G>A (n.*1542G>A)
c.947C>T (p.Pro316Leu)
c.1046C>T (p.Pro349Leu)
c.980C>T (p.Pro327Leu)
c.1013C>T (p.Pro338Leu)
n.181C>T
n.277C>T
n.269C>T
n.244C>T
n.486C>T
n.588C>T
c.335C>T (p.Pro112Leu)
c.950C>T (p.Pro317Leu)
c.1049C>T (p.Pro350Leu)
c.983C>T (p.Pro328Leu)
c.923C>T (p.Pro308Leu)
c.1016C>T (p.Pro339Leu)
n.2402C>T
n.2843C>T
c.917C>T (p.Pro306Leu)
c.884C>T (p.Pro295Leu)
c.857C>T (p.Pro286Leu)
c.824C>T (p.Pro275Leu)
c.791C>T (p.Pro264Leu)
 gnomAD v4
4g.76112396A=CA1469470925ART3,NUP54c.1080A= (p.Pro360=)
c.*1541T= (n.*1541T=)
c.948A= (p.Pro316=)
c.1047A= (p.Pro349=)
c.981A= (p.Pro327=)
c.1014A= (p.Pro338=)
n.182A=
n.278A=
n.270A=
n.245A=
n.487A=
n.589A=
c.336A= (p.Pro112=)
c.951A= (p.Pro317=)
c.1050A= (p.Pro350=)
c.984A= (p.Pro328=)
c.924A= (p.Pro308=)
c.1017A= (p.Pro339=)
n.2403A=
n.2844A=
c.918A= (p.Pro306=)
c.885A= (p.Pro295=)
c.858A= (p.Pro286=)
c.825A= (p.Pro275=)
c.792A= (p.Pro264=)
4g.76112396A>CCA439955922ART3,NUP54c.1080A>C (p.Pro360=)
c.*1541T>G (n.*1541T>G)
c.948A>C (p.Pro316=)
c.1047A>C (p.Pro349=)
c.981A>C (p.Pro327=)
c.1014A>C (p.Pro338=)
n.182A>C
n.278A>C
n.270A>C
n.245A>C
n.487A>C
n.589A>C
c.336A>C (p.Pro112=)
c.951A>C (p.Pro317=)
c.1050A>C (p.Pro350=)
c.984A>C (p.Pro328=)
c.924A>C (p.Pro308=)
c.1017A>C (p.Pro339=)
n.2403A>C
n.2844A>C
c.918A>C (p.Pro306=)
c.885A>C (p.Pro295=)
c.858A>C (p.Pro286=)
c.825A>C (p.Pro275=)
c.792A>C (p.Pro264=)
4g.76112396A>GCA439955923ART3,NUP54c.1080A>G (p.Pro360=)
c.*1541T>C (n.*1541T>C)
c.948A>G (p.Pro316=)
c.1047A>G (p.Pro349=)
c.981A>G (p.Pro327=)
c.1014A>G (p.Pro338=)
n.182A>G
n.278A>G
n.270A>G
n.245A>G
n.487A>G
n.589A>G
c.336A>G (p.Pro112=)
c.951A>G (p.Pro317=)
c.1050A>G (p.Pro350=)
c.984A>G (p.Pro328=)
c.924A>G (p.Pro308=)
c.1017A>G (p.Pro339=)
n.2403A>G
n.2844A>G
c.918A>G (p.Pro306=)
c.885A>G (p.Pro295=)
c.858A>G (p.Pro286=)
c.825A>G (p.Pro275=)
c.792A>G (p.Pro264=)
 dbSNP gnomAD v2
4g.76112396A>TCA439955924ART3,NUP54c.1080A>T (p.Pro360=)
c.*1541T>A (n.*1541T>A)
c.948A>T (p.Pro316=)
c.1047A>T (p.Pro349=)
c.981A>T (p.Pro327=)
c.1014A>T (p.Pro338=)
n.182A>T
n.278A>T
n.270A>T
n.245A>T
n.487A>T
n.589A>T
c.336A>T (p.Pro112=)
c.951A>T (p.Pro317=)
c.1050A>T (p.Pro350=)
c.984A>T (p.Pro328=)
c.924A>T (p.Pro308=)
c.1017A>T (p.Pro339=)
n.2403A>T
n.2844A>T
c.918A>T (p.Pro306=)
c.885A>T (p.Pro295=)
c.858A>T (p.Pro286=)
c.825A>T (p.Pro275=)
c.792A>T (p.Pro264=)
 gnomAD v4
4g.76112397G>ACA357317036ART3,NUP54c.1081G>A (p.Val361Ile)
c.*1540C>T (n.*1540C>T)
c.949G>A (p.Val317Ile)
c.1048G>A (p.Val350Ile)
c.982G>A (p.Val328Ile)
c.1015G>A (p.Val339Ile)
n.183G>A
n.279G>A
n.271G>A
n.246G>A
n.488G>A
n.590G>A
c.337G>A (p.Val113Ile)
c.952G>A (p.Val318Ile)
c.1051G>A (p.Val351Ile)
c.985G>A (p.Val329Ile)
c.925G>A (p.Val309Ile)
c.1018G>A (p.Val340Ile)
n.2404G>A
n.2845G>A
c.919G>A (p.Val307Ile)
c.886G>A (p.Val296Ile)
c.859G>A (p.Val287Ile)
c.826G>A (p.Val276Ile)
c.793G>A (p.Val265Ile)
4g.76112397G>CCA357317037ART3,NUP54c.1081G>C (p.Val361Leu)
c.*1540C>G (n.*1540C>G)
c.949G>C (p.Val317Leu)
c.1048G>C (p.Val350Leu)
c.982G>C (p.Val328Leu)
c.1015G>C (p.Val339Leu)
n.183G>C
n.279G>C
n.271G>C
n.246G>C
n.488G>C
n.590G>C
c.337G>C (p.Val113Leu)
c.952G>C (p.Val318Leu)
c.1051G>C (p.Val351Leu)
c.985G>C (p.Val329Leu)
c.925G>C (p.Val309Leu)
c.1018G>C (p.Val340Leu)
n.2404G>C
n.2845G>C
c.919G>C (p.Val307Leu)
c.886G>C (p.Val296Leu)
c.859G>C (p.Val287Leu)
c.826G>C (p.Val276Leu)
c.793G>C (p.Val265Leu)
4g.76112397G=CA1469470930ART3,NUP54c.1081G= (p.Val361=)
c.*1540C= (n.*1540C=)
c.949G= (p.Val317=)
c.1048G= (p.Val350=)
c.982G= (p.Val328=)
c.1015G= (p.Val339=)
n.183G=
n.279G=
n.271G=
n.246G=
n.488G=
n.590G=
c.337G= (p.Val113=)
c.952G= (p.Val318=)
c.1051G= (p.Val351=)
c.985G= (p.Val329=)
c.925G= (p.Val309=)
c.1018G= (p.Val340=)
n.2404G=
n.2845G=
c.919G= (p.Val307=)
c.886G= (p.Val296=)
c.859G= (p.Val287=)
c.826G= (p.Val276=)
c.793G= (p.Val265=)
4g.76112397G>TCA2969575ART3,NUP54c.1081G>T (p.Val361Phe)
c.*1540C>A (n.*1540C>A)
c.949G>T (p.Val317Phe)
c.1048G>T (p.Val350Phe)
c.982G>T (p.Val328Phe)
c.1015G>T (p.Val339Phe)
n.183G>T
n.279G>T
n.271G>T
n.246G>T
n.488G>T
n.590G>T
c.337G>T (p.Val113Phe)
c.952G>T (p.Val318Phe)
c.1051G>T (p.Val351Phe)
c.985G>T (p.Val329Phe)
c.925G>T (p.Val309Phe)
c.1018G>T (p.Val340Phe)
n.2404G>T
n.2845G>T
c.919G>T (p.Val307Phe)
c.886G>T (p.Val296Phe)
c.859G>T (p.Val287Phe)
c.826G>T (p.Val276Phe)
c.793G>T (p.Val265Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112398T>ACA357317040ART3,NUP54c.1082T>A (p.Val361Asp)
c.*1539A>T (n.*1539A>T)
c.950T>A (p.Val317Asp)
c.1049T>A (p.Val350Asp)
c.983T>A (p.Val328Asp)
c.1016T>A (p.Val339Asp)
n.184T>A
n.280T>A
n.272T>A
n.247T>A
n.489T>A
n.591T>A
c.338T>A (p.Val113Asp)
c.953T>A (p.Val318Asp)
c.1052T>A (p.Val351Asp)
c.986T>A (p.Val329Asp)
c.926T>A (p.Val309Asp)
c.1019T>A (p.Val340Asp)
n.2405T>A
n.2846T>A
c.920T>A (p.Val307Asp)
c.887T>A (p.Val296Asp)
c.860T>A (p.Val287Asp)
c.827T>A (p.Val276Asp)
c.794T>A (p.Val265Asp)
4g.76112398T>CCA2969576ART3,NUP54c.1082T>C (p.Val361Ala)
c.*1539A>G (n.*1539A>G)
c.950T>C (p.Val317Ala)
c.1049T>C (p.Val350Ala)
c.983T>C (p.Val328Ala)
c.1016T>C (p.Val339Ala)
n.184T>C
n.280T>C
n.272T>C
n.247T>C
n.489T>C
n.591T>C
c.338T>C (p.Val113Ala)
c.953T>C (p.Val318Ala)
c.1052T>C (p.Val351Ala)
c.986T>C (p.Val329Ala)
c.926T>C (p.Val309Ala)
c.1019T>C (p.Val340Ala)
n.2405T>C
n.2846T>C
c.920T>C (p.Val307Ala)
c.887T>C (p.Val296Ala)
c.860T>C (p.Val287Ala)
c.827T>C (p.Val276Ala)
c.794T>C (p.Val265Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112398T>GCA357317043ART3,NUP54c.1082T>G (p.Val361Gly)
c.*1539A>C (n.*1539A>C)
c.950T>G (p.Val317Gly)
c.1049T>G (p.Val350Gly)
c.983T>G (p.Val328Gly)
c.1016T>G (p.Val339Gly)
n.184T>G
n.280T>G
n.272T>G
n.247T>G
n.489T>G
n.591T>G
c.338T>G (p.Val113Gly)
c.953T>G (p.Val318Gly)
c.1052T>G (p.Val351Gly)
c.986T>G (p.Val329Gly)
c.926T>G (p.Val309Gly)
c.1019T>G (p.Val340Gly)
n.2405T>G
n.2846T>G
c.920T>G (p.Val307Gly)
c.887T>G (p.Val296Gly)
c.860T>G (p.Val287Gly)
c.827T>G (p.Val276Gly)
c.794T>G (p.Val265Gly)
4g.76112398T=CA1469470933ART3,NUP54c.1082T= (p.Val361=)
c.*1539A= (n.*1539A=)
c.950T= (p.Val317=)
c.1049T= (p.Val350=)
c.983T= (p.Val328=)
c.1016T= (p.Val339=)
n.184T=
n.280T=
n.272T=
n.247T=
n.489T=
n.591T=
c.338T= (p.Val113=)
c.953T= (p.Val318=)
c.1052T= (p.Val351=)
c.986T= (p.Val329=)
c.926T= (p.Val309=)
c.1019T= (p.Val340=)
n.2405T=
n.2846T=
c.920T= (p.Val307=)
c.887T= (p.Val296=)
c.860T= (p.Val287=)
c.827T= (p.Val276=)
c.794T= (p.Val265=)
4g.76112399T>ACA439955925ART3,NUP54c.1083T>A (p.Val361=)
c.*1538A>T (n.*1538A>T)
c.951T>A (p.Val317=)
c.1050T>A (p.Val350=)
c.984T>A (p.Val328=)
c.1017T>A (p.Val339=)
n.185T>A
n.281T>A
n.273T>A
n.248T>A
n.490T>A
n.592T>A
c.339T>A (p.Val113=)
c.954T>A (p.Val318=)
c.1053T>A (p.Val351=)
c.987T>A (p.Val329=)
c.927T>A (p.Val309=)
c.1020T>A (p.Val340=)
n.2406T>A
n.2847T>A
c.921T>A (p.Val307=)
c.888T>A (p.Val296=)
c.861T>A (p.Val287=)
c.828T>A (p.Val276=)
c.795T>A (p.Val265=)
4g.76112399T>CCA439955926ART3,NUP54c.1083T>C (p.Val361=)
c.*1538A>G (n.*1538A>G)
c.951T>C (p.Val317=)
c.1050T>C (p.Val350=)
c.984T>C (p.Val328=)
c.1017T>C (p.Val339=)
n.185T>C
n.281T>C
n.273T>C
n.248T>C
n.490T>C
n.592T>C
c.339T>C (p.Val113=)
c.954T>C (p.Val318=)
c.1053T>C (p.Val351=)
c.987T>C (p.Val329=)
c.927T>C (p.Val309=)
c.1020T>C (p.Val340=)
n.2406T>C
n.2847T>C
c.921T>C (p.Val307=)
c.888T>C (p.Val296=)
c.861T>C (p.Val287=)
c.828T>C (p.Val276=)
c.795T>C (p.Val265=)
4g.76112399T>GCA439955927ART3,NUP54c.1083T>G (p.Val361=)
c.*1538A>C (n.*1538A>C)
c.951T>G (p.Val317=)
c.1050T>G (p.Val350=)
c.984T>G (p.Val328=)
c.1017T>G (p.Val339=)
n.185T>G
n.281T>G
n.273T>G
n.248T>G
n.490T>G
n.592T>G
c.339T>G (p.Val113=)
c.954T>G (p.Val318=)
c.1053T>G (p.Val351=)
c.987T>G (p.Val329=)
c.927T>G (p.Val309=)
c.1020T>G (p.Val340=)
n.2406T>G
n.2847T>G
c.921T>G (p.Val307=)
c.888T>G (p.Val296=)
c.861T>G (p.Val287=)
c.828T>G (p.Val276=)
c.795T>G (p.Val265=)
4g.76112400C>ACA357317045ART3,NUP54c.1084C>A (p.Pro362Thr)
c.*1537G>T (n.*1537G>T)
c.952C>A (p.Pro318Thr)
c.1051C>A (p.Pro351Thr)
c.985C>A (p.Pro329Thr)
c.1018C>A (p.Pro340Thr)
n.186C>A
n.282C>A
n.274C>A
n.249C>A
n.491C>A
n.593C>A
c.340C>A (p.Pro114Thr)
c.955C>A (p.Pro319Thr)
c.1054C>A (p.Pro352Thr)
c.988C>A (p.Pro330Thr)
c.928C>A (p.Pro310Thr)
c.1021C>A (p.Pro341Thr)
n.2407C>A
n.2848C>A
c.922C>A (p.Pro308Thr)
c.889C>A (p.Pro297Thr)
c.862C>A (p.Pro288Thr)
c.829C>A (p.Pro277Thr)
c.796C>A (p.Pro266Thr)
4g.76112400C>GCA357317047ART3,NUP54c.1084C>G (p.Pro362Ala)
c.*1537G>C (n.*1537G>C)
c.952C>G (p.Pro318Ala)
c.1051C>G (p.Pro351Ala)
c.985C>G (p.Pro329Ala)
c.1018C>G (p.Pro340Ala)
n.186C>G
n.282C>G
n.274C>G
n.249C>G
n.491C>G
n.593C>G
c.340C>G (p.Pro114Ala)
c.955C>G (p.Pro319Ala)
c.1054C>G (p.Pro352Ala)
c.988C>G (p.Pro330Ala)
c.928C>G (p.Pro310Ala)
c.1021C>G (p.Pro341Ala)
n.2407C>G
n.2848C>G
c.922C>G (p.Pro308Ala)
c.889C>G (p.Pro297Ala)
c.862C>G (p.Pro288Ala)
c.829C>G (p.Pro277Ala)
c.796C>G (p.Pro266Ala)
4g.76112400C>TCA357317049ART3,NUP54c.1084C>T (p.Pro362Ser)
c.*1537G>A (n.*1537G>A)
c.952C>T (p.Pro318Ser)
c.1051C>T (p.Pro351Ser)
c.985C>T (p.Pro329Ser)
c.1018C>T (p.Pro340Ser)
n.186C>T
n.282C>T
n.274C>T
n.249C>T
n.491C>T
n.593C>T
c.340C>T (p.Pro114Ser)
c.955C>T (p.Pro319Ser)
c.1054C>T (p.Pro352Ser)
c.988C>T (p.Pro330Ser)
c.928C>T (p.Pro310Ser)
c.1021C>T (p.Pro341Ser)
n.2407C>T
n.2848C>T
c.922C>T (p.Pro308Ser)
c.889C>T (p.Pro297Ser)
c.862C>T (p.Pro288Ser)
c.829C>T (p.Pro277Ser)
c.796C>T (p.Pro266Ser)
 COSMIC COSMIC
4g.76112401C>ACA357317054ART3,NUP54c.1085C>A (p.Pro362His)
c.*1536G>T (n.*1536G>T)
c.953C>A (p.Pro318His)
c.1052C>A (p.Pro351His)
c.986C>A (p.Pro329His)
c.1019C>A (p.Pro340His)
n.187C>A
n.283C>A
n.275C>A
n.250C>A
n.492C>A
n.594C>A
c.341C>A (p.Pro114His)
c.956C>A (p.Pro319His)
c.1055C>A (p.Pro352His)
c.989C>A (p.Pro330His)
c.929C>A (p.Pro310His)
c.1022C>A (p.Pro341His)
n.2408C>A
n.2849C>A
c.923C>A (p.Pro308His)
c.890C>A (p.Pro297His)
c.863C>A (p.Pro288His)
c.830C>A (p.Pro277His)
c.797C>A (p.Pro266His)
4g.76112401C=CA1469470936ART3,NUP54c.1085C= (p.Pro362=)
c.*1536G= (n.*1536G=)
c.953C= (p.Pro318=)
c.1052C= (p.Pro351=)
c.986C= (p.Pro329=)
c.1019C= (p.Pro340=)
n.187C=
n.283C=
n.275C=
n.250C=
n.492C=
n.594C=
c.341C= (p.Pro114=)
c.956C= (p.Pro319=)
c.1055C= (p.Pro352=)
c.989C= (p.Pro330=)
c.929C= (p.Pro310=)
c.1022C= (p.Pro341=)
n.2408C=
n.2849C=
c.923C= (p.Pro308=)
c.890C= (p.Pro297=)
c.863C= (p.Pro288=)
c.830C= (p.Pro277=)
c.797C= (p.Pro266=)
4g.76112401C>GCA357317051ART3,NUP54c.1085C>G (p.Pro362Arg)
c.*1536G>C (n.*1536G>C)
c.953C>G (p.Pro318Arg)
c.1052C>G (p.Pro351Arg)
c.986C>G (p.Pro329Arg)
c.1019C>G (p.Pro340Arg)
n.187C>G
n.283C>G
n.275C>G
n.250C>G
n.492C>G
n.594C>G
c.341C>G (p.Pro114Arg)
c.956C>G (p.Pro319Arg)
c.1055C>G (p.Pro352Arg)
c.989C>G (p.Pro330Arg)
c.929C>G (p.Pro310Arg)
c.1022C>G (p.Pro341Arg)
n.2408C>G
n.2849C>G
c.923C>G (p.Pro308Arg)
c.890C>G (p.Pro297Arg)
c.863C>G (p.Pro288Arg)
c.830C>G (p.Pro277Arg)
c.797C>G (p.Pro266Arg)
4g.76112401C>TCA2969577ART3,NUP54c.1085C>T (p.Pro362Leu)
c.*1536G>A (n.*1536G>A)
c.953C>T (p.Pro318Leu)
c.1052C>T (p.Pro351Leu)
c.986C>T (p.Pro329Leu)
c.1019C>T (p.Pro340Leu)
n.187C>T
n.283C>T
n.275C>T
n.250C>T
n.492C>T
n.594C>T
c.341C>T (p.Pro114Leu)
c.956C>T (p.Pro319Leu)
c.1055C>T (p.Pro352Leu)
c.989C>T (p.Pro330Leu)
c.929C>T (p.Pro310Leu)
c.1022C>T (p.Pro341Leu)
n.2408C>T
n.2849C>T
c.923C>T (p.Pro308Leu)
c.890C>T (p.Pro297Leu)
c.863C>T (p.Pro288Leu)
c.830C>T (p.Pro277Leu)
c.797C>T (p.Pro266Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112402T>ACA439955933ART3,NUP54c.1086T>A (p.Pro362=)
c.*1535A>T (n.*1535A>T)
c.954T>A (p.Pro318=)
c.1053T>A (p.Pro351=)
c.987T>A (p.Pro329=)
c.1020T>A (p.Pro340=)
n.188T>A
n.284T>A
n.276T>A
n.251T>A
n.493T>A
n.595T>A
c.342T>A (p.Pro114=)
c.957T>A (p.Pro319=)
c.1056T>A (p.Pro352=)
c.990T>A (p.Pro330=)
c.930T>A (p.Pro310=)
c.1023T>A (p.Pro341=)
n.2409T>A
n.2850T>A
c.924T>A (p.Pro308=)
c.891T>A (p.Pro297=)
c.864T>A (p.Pro288=)
c.831T>A (p.Pro277=)
c.798T>A (p.Pro266=)
4g.76112402T>CCA439955931ART3,NUP54c.1086T>C (p.Pro362=)
c.*1535A>G (n.*1535A>G)
c.954T>C (p.Pro318=)
c.1053T>C (p.Pro351=)
c.987T>C (p.Pro329=)
c.1020T>C (p.Pro340=)
n.188T>C
n.284T>C
n.276T>C
n.251T>C
n.493T>C
n.595T>C
c.342T>C (p.Pro114=)
c.957T>C (p.Pro319=)
c.1056T>C (p.Pro352=)
c.990T>C (p.Pro330=)
c.930T>C (p.Pro310=)
c.1023T>C (p.Pro341=)
n.2409T>C
n.2850T>C
c.924T>C (p.Pro308=)
c.891T>C (p.Pro297=)
c.864T>C (p.Pro288=)
c.831T>C (p.Pro277=)
c.798T>C (p.Pro266=)
 gnomAD v4
4g.76112402T>GCA439955932ART3,NUP54c.1086T>G (p.Pro362=)
c.*1535A>C (n.*1535A>C)
c.954T>G (p.Pro318=)
c.1053T>G (p.Pro351=)
c.987T>G (p.Pro329=)
c.1020T>G (p.Pro340=)
n.188T>G
n.284T>G
n.276T>G
n.251T>G
n.493T>G
n.595T>G
c.342T>G (p.Pro114=)
c.957T>G (p.Pro319=)
c.1056T>G (p.Pro352=)
c.990T>G (p.Pro330=)
c.930T>G (p.Pro310=)
c.1023T>G (p.Pro341=)
n.2409T>G
n.2850T>G
c.924T>G (p.Pro308=)
c.891T>G (p.Pro297=)
c.864T>G (p.Pro288=)
c.831T>G (p.Pro277=)
c.798T>G (p.Pro266=)
4g.76112403G>ACA357317056ART3,NUP54c.1087G>A (p.Val363Ile)
c.*1534C>T (n.*1534C>T)
c.955G>A (p.Val319Ile)
c.1054G>A (p.Val352Ile)
c.988G>A (p.Val330Ile)
c.1021G>A (p.Val341Ile)
n.189G>A
n.285G>A
n.277G>A
n.252G>A
n.494G>A
n.596G>A
c.343G>A (p.Val115Ile)
c.958G>A (p.Val320Ile)
c.1057G>A (p.Val353Ile)
c.991G>A (p.Val331Ile)
c.931G>A (p.Val311Ile)
c.1024G>A (p.Val342Ile)
n.2410G>A
n.2851G>A
c.925G>A (p.Val309Ile)
c.892G>A (p.Val298Ile)
c.865G>A (p.Val289Ile)
c.832G>A (p.Val278Ile)
c.799G>A (p.Val267Ile)
 dbSNP gnomAD v2
4g.76112403G>CCA357317058ART3,NUP54c.1087G>C (p.Val363Leu)
c.*1534C>G (n.*1534C>G)
c.955G>C (p.Val319Leu)
c.1054G>C (p.Val352Leu)
c.988G>C (p.Val330Leu)
c.1021G>C (p.Val341Leu)
n.189G>C
n.285G>C
n.277G>C
n.252G>C
n.494G>C
n.596G>C
c.343G>C (p.Val115Leu)
c.958G>C (p.Val320Leu)
c.1057G>C (p.Val353Leu)
c.991G>C (p.Val331Leu)
c.931G>C (p.Val311Leu)
c.1024G>C (p.Val342Leu)
n.2410G>C
n.2851G>C
c.925G>C (p.Val309Leu)
c.892G>C (p.Val298Leu)
c.865G>C (p.Val289Leu)
c.832G>C (p.Val278Leu)
c.799G>C (p.Val267Leu)
4g.76112403G=CA1469470940ART3,NUP54c.1087G= (p.Val363=)
c.*1534C= (n.*1534C=)
c.955G= (p.Val319=)
c.1054G= (p.Val352=)
c.988G= (p.Val330=)
c.1021G= (p.Val341=)
n.189G=
n.285G=
n.277G=
n.252G=
n.494G=
n.596G=
c.343G= (p.Val115=)
c.958G= (p.Val320=)
c.1057G= (p.Val353=)
c.991G= (p.Val331=)
c.931G= (p.Val311=)
c.1024G= (p.Val342=)
n.2410G=
n.2851G=
c.925G= (p.Val309=)
c.892G= (p.Val298=)
c.865G= (p.Val289=)
c.832G= (p.Val278=)
c.799G= (p.Val267=)
4g.76112403G>TCA357317059ART3,NUP54c.1087G>T (p.Val363Phe)
c.*1534C>A (n.*1534C>A)
c.955G>T (p.Val319Phe)
c.1054G>T (p.Val352Phe)
c.988G>T (p.Val330Phe)
c.1021G>T (p.Val341Phe)
n.189G>T
n.285G>T
n.277G>T
n.252G>T
n.494G>T
n.596G>T
c.343G>T (p.Val115Phe)
c.958G>T (p.Val320Phe)
c.1057G>T (p.Val353Phe)
c.991G>T (p.Val331Phe)
c.931G>T (p.Val311Phe)
c.1024G>T (p.Val342Phe)
n.2410G>T
n.2851G>T
c.925G>T (p.Val309Phe)
c.892G>T (p.Val298Phe)
c.865G>T (p.Val289Phe)
c.832G>T (p.Val278Phe)
c.799G>T (p.Val267Phe)
 dbSNP
4g.76112404T>ACA357317060ART3,NUP54c.1088T>A (p.Val363Asp)
c.*1533A>T (n.*1533A>T)
c.956T>A (p.Val319Asp)
c.1055T>A (p.Val352Asp)
c.989T>A (p.Val330Asp)
c.1022T>A (p.Val341Asp)
n.190T>A
n.286T>A
n.278T>A
n.253T>A
n.495T>A
n.597T>A
c.344T>A (p.Val115Asp)
c.959T>A (p.Val320Asp)
c.1058T>A (p.Val353Asp)
c.992T>A (p.Val331Asp)
c.932T>A (p.Val311Asp)
c.1025T>A (p.Val342Asp)
n.2411T>A
n.2852T>A
c.926T>A (p.Val309Asp)
c.893T>A (p.Val298Asp)
c.866T>A (p.Val289Asp)
c.833T>A (p.Val278Asp)
c.800T>A (p.Val267Asp)
4g.76112404T>CCA357317061ART3,NUP54c.1088T>C (p.Val363Ala)
c.*1533A>G (n.*1533A>G)
c.956T>C (p.Val319Ala)
c.1055T>C (p.Val352Ala)
c.989T>C (p.Val330Ala)
c.1022T>C (p.Val341Ala)
n.190T>C
n.286T>C
n.278T>C
n.253T>C
n.495T>C
n.597T>C
c.344T>C (p.Val115Ala)
c.959T>C (p.Val320Ala)
c.1058T>C (p.Val353Ala)
c.992T>C (p.Val331Ala)
c.932T>C (p.Val311Ala)
c.1025T>C (p.Val342Ala)
n.2411T>C
n.2852T>C
c.926T>C (p.Val309Ala)
c.893T>C (p.Val298Ala)
c.866T>C (p.Val289Ala)
c.833T>C (p.Val278Ala)
c.800T>C (p.Val267Ala)
4g.76112404T>GCA357317062ART3,NUP54c.1088T>G (p.Val363Gly)
c.*1533A>C (n.*1533A>C)
c.956T>G (p.Val319Gly)
c.1055T>G (p.Val352Gly)
c.989T>G (p.Val330Gly)
c.1022T>G (p.Val341Gly)
n.190T>G
n.286T>G
n.278T>G
n.253T>G
n.495T>G
n.597T>G
c.344T>G (p.Val115Gly)
c.959T>G (p.Val320Gly)
c.1058T>G (p.Val353Gly)
c.992T>G (p.Val331Gly)
c.932T>G (p.Val311Gly)
c.1025T>G (p.Val342Gly)
n.2411T>G
n.2852T>G
c.926T>G (p.Val309Gly)
c.893T>G (p.Val298Gly)
c.866T>G (p.Val289Gly)
c.833T>G (p.Val278Gly)
c.800T>G (p.Val267Gly)
4g.76112405T>ACA439955937ART3,NUP54c.1089T>A (p.Val363=)
c.*1532A>T (n.*1532A>T)
c.957T>A (p.Val319=)
c.1056T>A (p.Val352=)
c.990T>A (p.Val330=)
c.1023T>A (p.Val341=)
n.191T>A
n.287T>A
n.279T>A
n.254T>A
n.496T>A
n.598T>A
c.345T>A (p.Val115=)
c.960T>A (p.Val320=)
c.1059T>A (p.Val353=)
c.993T>A (p.Val331=)
c.933T>A (p.Val311=)
c.1026T>A (p.Val342=)
n.2412T>A
n.2853T>A
c.927T>A (p.Val309=)
c.894T>A (p.Val298=)
c.867T>A (p.Val289=)
c.834T>A (p.Val278=)
c.801T>A (p.Val267=)
4g.76112405T>CCA439955938ART3,NUP54c.1089T>C (p.Val363=)
c.*1532A>G (n.*1532A>G)
c.957T>C (p.Val319=)
c.1056T>C (p.Val352=)
c.990T>C (p.Val330=)
c.1023T>C (p.Val341=)
n.191T>C
n.287T>C
n.279T>C
n.254T>C
n.496T>C
n.598T>C
c.345T>C (p.Val115=)
c.960T>C (p.Val320=)
c.1059T>C (p.Val353=)
c.993T>C (p.Val331=)
c.933T>C (p.Val311=)
c.1026T>C (p.Val342=)
n.2412T>C
n.2853T>C
c.927T>C (p.Val309=)
c.894T>C (p.Val298=)
c.867T>C (p.Val289=)
c.834T>C (p.Val278=)
c.801T>C (p.Val267=)
4g.76112405T>GCA439955939ART3,NUP54c.1089T>G (p.Val363=)
c.*1532A>C (n.*1532A>C)
c.957T>G (p.Val319=)
c.1056T>G (p.Val352=)
c.990T>G (p.Val330=)
c.1023T>G (p.Val341=)
n.191T>G
n.287T>G
n.279T>G
n.254T>G
n.496T>G
n.598T>G
c.345T>G (p.Val115=)
c.960T>G (p.Val320=)
c.1059T>G (p.Val353=)
c.993T>G (p.Val331=)
c.933T>G (p.Val311=)
c.1026T>G (p.Val342=)
n.2412T>G
n.2853T>G
c.927T>G (p.Val309=)
c.894T>G (p.Val298=)
c.867T>G (p.Val289=)
c.834T>G (p.Val278=)
c.801T>G (p.Val267=)
 gnomAD v4
4g.76112405_76112406delinsTCCA1469470944ART3,NUP54c.1089_1090delinsTC (p.Val363=)
c.*1531_*1532delinsGA (n.*1531_*1532delinsGA)
c.957_958delinsTC (p.Val319=)
c.1056_1057delinsTC (p.Val352=)
c.990_991delinsTC (p.Val330=)
c.1023_1024delinsTC (p.Val341=)
n.191_192delinsTC
n.287_288delinsTC
n.279_280delinsTC
n.254_255delinsTC
n.496_497delinsTC
n.598_599delinsTC
c.345_346delinsTC (p.Val115=)
c.960_961delinsTC (p.Val320=)
c.1059_1060delinsTC (p.Val353=)
c.993_994delinsTC (p.Val331=)
c.933_934delinsTC (p.Val311=)
c.1026_1027delinsTC (p.Val342=)
n.2412_2413delinsTC
n.2853_2854delinsTC
c.927_928delinsTC (p.Val309=)
c.894_895delinsTC (p.Val298=)
c.867_868delinsTC (p.Val289=)
c.834_835delinsTC (p.Val278=)
c.801_802delinsTC (p.Val267=)
4g.76112406C>ACA357317063ART3,NUP54c.1090C>A (p.Pro364Thr)
c.*1531G>T (n.*1531G>T)
c.958C>A (p.Pro320Thr)
c.1057C>A (p.Pro353Thr)
c.991C>A (p.Pro331Thr)
c.1024C>A (p.Pro342Thr)
n.192C>A
n.288C>A
n.280C>A
n.255C>A
n.497C>A
n.599C>A
c.346C>A (p.Pro116Thr)
c.961C>A (p.Pro321Thr)
c.1060C>A (p.Pro354Thr)
c.994C>A (p.Pro332Thr)
c.934C>A (p.Pro312Thr)
c.1027C>A (p.Pro343Thr)
n.2413C>A
n.2854C>A
c.928C>A (p.Pro310Thr)
c.895C>A (p.Pro299Thr)
c.868C>A (p.Pro290Thr)
c.835C>A (p.Pro279Thr)
c.802C>A (p.Pro268Thr)
4g.76112406C>GCA357317065ART3,NUP54c.1090C>G (p.Pro364Ala)
c.*1531G>C (n.*1531G>C)
c.958C>G (p.Pro320Ala)
c.1057C>G (p.Pro353Ala)
c.991C>G (p.Pro331Ala)
c.1024C>G (p.Pro342Ala)
n.192C>G
n.288C>G
n.280C>G
n.255C>G
n.497C>G
n.599C>G
c.346C>G (p.Pro116Ala)
c.961C>G (p.Pro321Ala)
c.1060C>G (p.Pro354Ala)
c.994C>G (p.Pro332Ala)
c.934C>G (p.Pro312Ala)
c.1027C>G (p.Pro343Ala)
n.2413C>G
n.2854C>G
c.928C>G (p.Pro310Ala)
c.895C>G (p.Pro299Ala)
c.868C>G (p.Pro290Ala)
c.835C>G (p.Pro279Ala)
c.802C>G (p.Pro268Ala)
4g.76112406C>TCA357317067ART3,NUP54c.1090C>T (p.Pro364Ser)
c.*1531G>A (n.*1531G>A)
c.958C>T (p.Pro320Ser)
c.1057C>T (p.Pro353Ser)
c.991C>T (p.Pro331Ser)
c.1024C>T (p.Pro342Ser)
n.192C>T
n.288C>T
n.280C>T
n.255C>T
n.497C>T
n.599C>T
c.346C>T (p.Pro116Ser)
c.961C>T (p.Pro321Ser)
c.1060C>T (p.Pro354Ser)
c.994C>T (p.Pro332Ser)
c.934C>T (p.Pro312Ser)
c.1027C>T (p.Pro343Ser)
n.2413C>T
n.2854C>T
c.928C>T (p.Pro310Ser)
c.895C>T (p.Pro299Ser)
c.868C>T (p.Pro290Ser)
c.835C>T (p.Pro279Ser)
c.802C>T (p.Pro268Ser)
4g.76112407delCA1469470948ART3,NUP54c.1091del (p.Pro364GlnfsTer25)
c.*1531del (n.*1531del)
c.959del (p.Pro320GlnfsTer25)
c.1058del (p.Pro353GlnfsTer25)
c.992del (p.Pro331GlnfsTer25)
c.1025del (p.Pro342GlnfsTer25)
n.193del
n.289del
n.281del
n.256del
n.498del
n.600del
c.347del (p.Pro116GlnfsTer?)
c.962del (p.Pro321GlnfsTer25)
c.1061del (p.Pro354GlnfsTer25)
c.995del (p.Pro332GlnfsTer25)
c.935del (p.Pro312GlnfsTer25)
c.1028del (p.Pro343GlnfsTer25)
n.2414del
n.2855del
c.929del (p.Pro310GlnfsTer25)
c.896del (p.Pro299GlnfsTer25)
c.869del (p.Pro290GlnfsTer25)
c.836del (p.Pro279GlnfsTer25)
c.803del (p.Pro268GlnfsTer25)
 dbSNP
4g.76112407C>ACA357317069ART3,NUP54c.1091C>A (p.Pro364Gln)
c.*1530G>T (n.*1530G>T)
c.959C>A (p.Pro320Gln)
c.1058C>A (p.Pro353Gln)
c.992C>A (p.Pro331Gln)
c.1025C>A (p.Pro342Gln)
n.193C>A
n.289C>A
n.281C>A
n.256C>A
n.498C>A
n.600C>A
c.347C>A (p.Pro116Gln)
c.962C>A (p.Pro321Gln)
c.1061C>A (p.Pro354Gln)
c.995C>A (p.Pro332Gln)
c.935C>A (p.Pro312Gln)
c.1028C>A (p.Pro343Gln)
n.2414C>A
n.2855C>A
c.929C>A (p.Pro310Gln)
c.896C>A (p.Pro299Gln)
c.869C>A (p.Pro290Gln)
c.836C>A (p.Pro279Gln)
c.803C>A (p.Pro268Gln)
4g.76112407C>GCA357317070ART3,NUP54c.1091C>G (p.Pro364Arg)
c.*1530G>C (n.*1530G>C)
c.959C>G (p.Pro320Arg)
c.1058C>G (p.Pro353Arg)
c.992C>G (p.Pro331Arg)
c.1025C>G (p.Pro342Arg)
n.193C>G
n.289C>G
n.281C>G
n.256C>G
n.498C>G
n.600C>G
c.347C>G (p.Pro116Arg)
c.962C>G (p.Pro321Arg)
c.1061C>G (p.Pro354Arg)
c.995C>G (p.Pro332Arg)
c.935C>G (p.Pro312Arg)
c.1028C>G (p.Pro343Arg)
n.2414C>G
n.2855C>G
c.929C>G (p.Pro310Arg)
c.896C>G (p.Pro299Arg)
c.869C>G (p.Pro290Arg)
c.836C>G (p.Pro279Arg)
c.803C>G (p.Pro268Arg)
4g.76112407C>TCA357317072ART3,NUP54c.1091C>T (p.Pro364Leu)
c.*1530G>A (n.*1530G>A)
c.959C>T (p.Pro320Leu)
c.1058C>T (p.Pro353Leu)
c.992C>T (p.Pro331Leu)
c.1025C>T (p.Pro342Leu)
n.193C>T
n.289C>T
n.281C>T
n.256C>T
n.498C>T
n.600C>T
c.347C>T (p.Pro116Leu)
c.962C>T (p.Pro321Leu)
c.1061C>T (p.Pro354Leu)
c.995C>T (p.Pro332Leu)
c.935C>T (p.Pro312Leu)
c.1028C>T (p.Pro343Leu)
n.2414C>T
n.2855C>T
c.929C>T (p.Pro310Leu)
c.896C>T (p.Pro299Leu)
c.869C>T (p.Pro290Leu)
c.836C>T (p.Pro279Leu)
c.803C>T (p.Pro268Leu)
 gnomAD v4
4g.76112408A>CCA439955941ART3,NUP54c.1092A>C (p.Pro364=)
c.*1529T>G (n.*1529T>G)
c.960A>C (p.Pro320=)
c.1059A>C (p.Pro353=)
c.993A>C (p.Pro331=)
c.1026A>C (p.Pro342=)
n.194A>C
n.290A>C
n.282A>C
n.257A>C
n.499A>C
n.601A>C
c.348A>C (p.Pro116=)
c.963A>C (p.Pro321=)
c.1062A>C (p.Pro354=)
c.996A>C (p.Pro332=)
c.936A>C (p.Pro312=)
c.1029A>C (p.Pro343=)
n.2415A>C
n.2856A>C
c.930A>C (p.Pro310=)
c.897A>C (p.Pro299=)
c.870A>C (p.Pro290=)
c.837A>C (p.Pro279=)
c.804A>C (p.Pro268=)
4g.76112408A>GCA439955942ART3,NUP54c.1092A>G (p.Pro364=)
c.*1529T>C (n.*1529T>C)
c.960A>G (p.Pro320=)
c.1059A>G (p.Pro353=)
c.993A>G (p.Pro331=)
c.1026A>G (p.Pro342=)
n.194A>G
n.290A>G
n.282A>G
n.257A>G
n.499A>G
n.601A>G
c.348A>G (p.Pro116=)
c.963A>G (p.Pro321=)
c.1062A>G (p.Pro354=)
c.996A>G (p.Pro332=)
c.936A>G (p.Pro312=)
c.1029A>G (p.Pro343=)
n.2415A>G
n.2856A>G
c.930A>G (p.Pro310=)
c.897A>G (p.Pro299=)
c.870A>G (p.Pro290=)
c.837A>G (p.Pro279=)
c.804A>G (p.Pro268=)
4g.76112408A>TCA439955943ART3,NUP54c.1092A>T (p.Pro364=)
c.*1529T>A (n.*1529T>A)
c.960A>T (p.Pro320=)
c.1059A>T (p.Pro353=)
c.993A>T (p.Pro331=)
c.1026A>T (p.Pro342=)
n.194A>T
n.290A>T
n.282A>T
n.257A>T
n.499A>T
n.601A>T
c.348A>T (p.Pro116=)
c.963A>T (p.Pro321=)
c.1062A>T (p.Pro354=)
c.996A>T (p.Pro332=)
c.936A>T (p.Pro312=)
c.1029A>T (p.Pro343=)
n.2415A>T
n.2856A>T
c.930A>T (p.Pro310=)
c.897A>T (p.Pro299=)
c.870A>T (p.Pro290=)
c.837A>T (p.Pro279=)
c.804A>T (p.Pro268=)
4g.76112409G>ACA357317078ART3,NUP54c.1093G>A (p.Gly365Ser)
c.*1528C>T (n.*1528C>T)
c.961G>A (p.Gly321Ser)
c.1060G>A (p.Gly354Ser)
c.994G>A (p.Gly332Ser)
c.1027G>A (p.Gly343Ser)
n.195G>A
n.291G>A
n.283G>A
n.258G>A
n.500G>A
n.602G>A
c.349G>A (p.Gly117Ser)
c.964G>A (p.Gly322Ser)
c.1063G>A (p.Gly355Ser)
c.997G>A (p.Gly333Ser)
c.937G>A (p.Gly313Ser)
c.1030G>A (p.Gly344Ser)
n.2416G>A
n.2857G>A
c.931G>A (p.Gly311Ser)
c.898G>A (p.Gly300Ser)
c.871G>A (p.Gly291Ser)
c.838G>A (p.Gly280Ser)
c.805G>A (p.Gly269Ser)
4g.76112409G>CCA357317076ART3,NUP54c.1093G>C (p.Gly365Arg)
c.*1528C>G (n.*1528C>G)
c.961G>C (p.Gly321Arg)
c.1060G>C (p.Gly354Arg)
c.994G>C (p.Gly332Arg)
c.1027G>C (p.Gly343Arg)
n.195G>C
n.291G>C
n.283G>C
n.258G>C
n.500G>C
n.602G>C
c.349G>C (p.Gly117Arg)
c.964G>C (p.Gly322Arg)
c.1063G>C (p.Gly355Arg)
c.997G>C (p.Gly333Arg)
c.937G>C (p.Gly313Arg)
c.1030G>C (p.Gly344Arg)
n.2416G>C
n.2857G>C
c.931G>C (p.Gly311Arg)
c.898G>C (p.Gly300Arg)
c.871G>C (p.Gly291Arg)
c.838G>C (p.Gly280Arg)
c.805G>C (p.Gly269Arg)
4g.76112409G>TCA357317074ART3,NUP54c.1093G>T (p.Gly365Cys)
c.*1528C>A (n.*1528C>A)
c.961G>T (p.Gly321Cys)
c.1060G>T (p.Gly354Cys)
c.994G>T (p.Gly332Cys)
c.1027G>T (p.Gly343Cys)
n.195G>T
n.291G>T
n.283G>T
n.258G>T
n.500G>T
n.602G>T
c.349G>T (p.Gly117Cys)
c.964G>T (p.Gly322Cys)
c.1063G>T (p.Gly355Cys)
c.997G>T (p.Gly333Cys)
c.937G>T (p.Gly313Cys)
c.1030G>T (p.Gly344Cys)
n.2416G>T
n.2857G>T
c.931G>T (p.Gly311Cys)
c.898G>T (p.Gly300Cys)
c.871G>T (p.Gly291Cys)
c.838G>T (p.Gly280Cys)
c.805G>T (p.Gly269Cys)
4g.76112409_76112412delinsGGTCCA1469470952ART3,NUP54c.1093_1096delinsGGTC (p.Gly365=)
c.*1525_*1528delinsGACC (n.*1525_*1528delinsGACC)
c.961_964delinsGGTC (p.Gly321=)
c.1060_1063delinsGGTC (p.Gly354=)
c.994_997delinsGGTC (p.Gly332=)
c.1027_1030delinsGGTC (p.Gly343=)
n.195_198delinsGGTC
n.291_294delinsGGTC
n.283_286delinsGGTC
n.258_261delinsGGTC
n.500_503delinsGGTC
n.602_605delinsGGTC
c.349_352delinsGGTC (p.Gly117=)
c.964_967delinsGGTC (p.Gly322=)
c.1063_1066delinsGGTC (p.Gly355=)
c.997_1000delinsGGTC (p.Gly333=)
c.937_940delinsGGTC (p.Gly313=)
c.1030_1033delinsGGTC (p.Gly344=)
n.2416_2419delinsGGTC
n.2857_2860delinsGGTC
c.931_934delinsGGTC (p.Gly311=)
c.898_901delinsGGTC (p.Gly300=)
c.871_874delinsGGTC (p.Gly291=)
c.838_841delinsGGTC (p.Gly280=)
c.805_808delinsGGTC (p.Gly269=)
4g.76112410G>ACA2969578ART3,NUP54c.1094G>A (p.Gly365Asp)
c.*1527C>T (n.*1527C>T)
c.962G>A (p.Gly321Asp)
c.1061G>A (p.Gly354Asp)
c.995G>A (p.Gly332Asp)
c.1028G>A (p.Gly343Asp)
n.196G>A
n.292G>A
n.284G>A
n.259G>A
n.501G>A
n.603G>A
c.350G>A (p.Gly117Asp)
c.965G>A (p.Gly322Asp)
c.1064G>A (p.Gly355Asp)
c.998G>A (p.Gly333Asp)
c.938G>A (p.Gly313Asp)
c.1031G>A (p.Gly344Asp)
n.2417G>A
n.2858G>A
c.932G>A (p.Gly311Asp)
c.899G>A (p.Gly300Asp)
c.872G>A (p.Gly291Asp)
c.839G>A (p.Gly280Asp)
c.806G>A (p.Gly269Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112410G>CCA357317080ART3,NUP54c.1094G>C (p.Gly365Ala)
c.*1527C>G (n.*1527C>G)
c.962G>C (p.Gly321Ala)
c.1061G>C (p.Gly354Ala)
c.995G>C (p.Gly332Ala)
c.1028G>C (p.Gly343Ala)
n.196G>C
n.292G>C
n.284G>C
n.259G>C
n.501G>C
n.603G>C
c.350G>C (p.Gly117Ala)
c.965G>C (p.Gly322Ala)
c.1064G>C (p.Gly355Ala)
c.998G>C (p.Gly333Ala)
c.938G>C (p.Gly313Ala)
c.1031G>C (p.Gly344Ala)
n.2417G>C
n.2858G>C
c.932G>C (p.Gly311Ala)
c.899G>C (p.Gly300Ala)
c.872G>C (p.Gly291Ala)
c.839G>C (p.Gly280Ala)
c.806G>C (p.Gly269Ala)
 gnomAD v4
4g.76112410G=CA1469470955ART3,NUP54c.1094G= (p.Gly365=)
c.*1527C= (n.*1527C=)
c.962G= (p.Gly321=)
c.1061G= (p.Gly354=)
c.995G= (p.Gly332=)
c.1028G= (p.Gly343=)
n.196G=
n.292G=
n.284G=
n.259G=
n.501G=
n.603G=
c.350G= (p.Gly117=)
c.965G= (p.Gly322=)
c.1064G= (p.Gly355=)
c.998G= (p.Gly333=)
c.938G= (p.Gly313=)
c.1031G= (p.Gly344=)
n.2417G=
n.2858G=
c.932G= (p.Gly311=)
c.899G= (p.Gly300=)
c.872G= (p.Gly291=)
c.839G= (p.Gly280=)
c.806G= (p.Gly269=)
4g.76112410G>TCA357317082ART3,NUP54c.1094G>T (p.Gly365Val)
c.*1527C>A (n.*1527C>A)
c.962G>T (p.Gly321Val)
c.1061G>T (p.Gly354Val)
c.995G>T (p.Gly332Val)
c.1028G>T (p.Gly343Val)
n.196G>T
n.292G>T
n.284G>T
n.259G>T
n.501G>T
n.603G>T
c.350G>T (p.Gly117Val)
c.965G>T (p.Gly322Val)
c.1064G>T (p.Gly355Val)
c.998G>T (p.Gly333Val)
c.938G>T (p.Gly313Val)
c.1031G>T (p.Gly344Val)
n.2417G>T
n.2858G>T
c.932G>T (p.Gly311Val)
c.899G>T (p.Gly300Val)
c.872G>T (p.Gly291Val)
c.839G>T (p.Gly280Val)
c.806G>T (p.Gly269Val)
4g.76112410_76112412delCA1469470954ART3,NUP54c.1094_1096del (p.Gly365_Pro366delinsAla)
c.*1525_*1527del (n.*1525_*1527del)
c.962_964del (p.Gly321_Pro322delinsAla)
c.1061_1063del (p.Gly354_Pro355delinsAla)
c.995_997del (p.Gly332_Pro333delinsAla)
c.1028_1030del (p.Gly343_Pro344delinsAla)
n.196_198del
n.292_294del
n.284_286del
n.259_261del
n.501_503del
n.603_605del
c.350_352del (p.Gly117del)
c.965_967del (p.Gly322_Pro323delinsAla)
c.1064_1066del (p.Gly355_Pro356delinsAla)
c.998_1000del (p.Gly333_Pro334delinsAla)
c.938_940del (p.Gly313_Pro314delinsAla)
c.1031_1033del (p.Gly344_Pro345delinsAla)
n.2417_2419del
n.2858_2860del
c.932_934del (p.Gly311_Pro312delinsAla)
c.899_901del (p.Gly300_Pro301delinsAla)
c.872_874del (p.Gly291_Pro292delinsAla)
c.839_841del (p.Gly280_Pro281delinsAla)
c.806_808del (p.Gly269_Pro270delinsAla)
 dbSNP
4g.76112411T>ACA439955945ART3,NUP54c.1095T>A (p.Gly365=)
c.*1526A>T (n.*1526A>T)
c.963T>A (p.Gly321=)
c.1062T>A (p.Gly354=)
c.996T>A (p.Gly332=)
c.1029T>A (p.Gly343=)
n.197T>A
n.293T>A
n.285T>A
n.260T>A
n.502T>A
n.604T>A
c.351T>A (p.Gly117=)
c.966T>A (p.Gly322=)
c.1065T>A (p.Gly355=)
c.999T>A (p.Gly333=)
c.939T>A (p.Gly313=)
c.1032T>A (p.Gly344=)
n.2418T>A
n.2859T>A
c.933T>A (p.Gly311=)
c.900T>A (p.Gly300=)
c.873T>A (p.Gly291=)
c.840T>A (p.Gly280=)
c.807T>A (p.Gly269=)
4g.76112411T>CCA439955946ART3,NUP54c.1095T>C (p.Gly365=)
c.*1526A>G (n.*1526A>G)
c.963T>C (p.Gly321=)
c.1062T>C (p.Gly354=)
c.996T>C (p.Gly332=)
c.1029T>C (p.Gly343=)
n.197T>C
n.293T>C
n.285T>C
n.260T>C
n.502T>C
n.604T>C
c.351T>C (p.Gly117=)
c.966T>C (p.Gly322=)
c.1065T>C (p.Gly355=)
c.999T>C (p.Gly333=)
c.939T>C (p.Gly313=)
c.1032T>C (p.Gly344=)
n.2418T>C
n.2859T>C
c.933T>C (p.Gly311=)
c.900T>C (p.Gly300=)
c.873T>C (p.Gly291=)
c.840T>C (p.Gly280=)
c.807T>C (p.Gly269=)
4g.76112411T>GCA439955947ART3,NUP54c.1095T>G (p.Gly365=)
c.*1526A>C (n.*1526A>C)
c.963T>G (p.Gly321=)
c.1062T>G (p.Gly354=)
c.996T>G (p.Gly332=)
c.1029T>G (p.Gly343=)
n.197T>G
n.293T>G
n.285T>G
n.260T>G
n.502T>G
n.604T>G
c.351T>G (p.Gly117=)
c.966T>G (p.Gly322=)
c.1065T>G (p.Gly355=)
c.999T>G (p.Gly333=)
c.939T>G (p.Gly313=)
c.1032T>G (p.Gly344=)
n.2418T>G
n.2859T>G
c.933T>G (p.Gly311=)
c.900T>G (p.Gly300=)
c.873T>G (p.Gly291=)
c.840T>G (p.Gly280=)
c.807T>G (p.Gly269=)
4g.76112412C>ACA357317084ART3,NUP54c.1096C>A (p.Pro366Thr)
c.*1525G>T (n.*1525G>T)
c.964C>A (p.Pro322Thr)
c.1063C>A (p.Pro355Thr)
c.997C>A (p.Pro333Thr)
c.1030C>A (p.Pro344Thr)
n.198C>A
n.294C>A
n.286C>A
n.261C>A
n.503C>A
n.605C>A
c.352C>A
c.967C>A (p.Pro323Thr)
c.1066C>A (p.Pro356Thr)
c.1000C>A (p.Pro334Thr)
c.940C>A (p.Pro314Thr)
c.1033C>A (p.Pro345Thr)
n.2419C>A
n.2860C>A
c.934C>A (p.Pro312Thr)
c.901C>A (p.Pro301Thr)
c.874C>A (p.Pro292Thr)
c.841C>A (p.Pro281Thr)
c.808C>A (p.Pro270Thr)
4g.76112412C>GCA357317085ART3,NUP54c.1096C>G (p.Pro366Ala)
c.*1525G>C (n.*1525G>C)
c.964C>G (p.Pro322Ala)
c.1063C>G (p.Pro355Ala)
c.997C>G (p.Pro333Ala)
c.1030C>G (p.Pro344Ala)
n.198C>G
n.294C>G
n.286C>G
n.261C>G
n.503C>G
n.605C>G
c.352C>G
c.967C>G (p.Pro323Ala)
c.1066C>G (p.Pro356Ala)
c.1000C>G (p.Pro334Ala)
c.940C>G (p.Pro314Ala)
c.1033C>G (p.Pro345Ala)
n.2419C>G
n.2860C>G
c.934C>G (p.Pro312Ala)
c.901C>G (p.Pro301Ala)
c.874C>G (p.Pro292Ala)
c.841C>G (p.Pro281Ala)
c.808C>G (p.Pro270Ala)
4g.76112412C>TCA357317087ART3,NUP54c.1096C>T (p.Pro366Ser)
c.*1525G>A (n.*1525G>A)
c.964C>T (p.Pro322Ser)
c.1063C>T (p.Pro355Ser)
c.997C>T (p.Pro333Ser)
c.1030C>T (p.Pro344Ser)
n.198C>T
n.294C>T
n.286C>T
n.261C>T
n.503C>T
n.605C>T
c.352C>T
c.967C>T (p.Pro323Ser)
c.1066C>T (p.Pro356Ser)
c.1000C>T (p.Pro334Ser)
c.940C>T (p.Pro314Ser)
c.1033C>T (p.Pro345Ser)
n.2419C>T
n.2860C>T
c.934C>T (p.Pro312Ser)
c.901C>T (p.Pro301Ser)
c.874C>T (p.Pro292Ser)
c.841C>T (p.Pro281Ser)
c.808C>T (p.Pro270Ser)
 gnomAD v4
4g.76112413C>ACA357317089ART3,NUP54c.1097C>A (p.Pro366His)
c.*1524G>T (n.*1524G>T)
c.965C>A (p.Pro322His)
c.1064C>A (p.Pro355His)
c.998C>A (p.Pro333His)
c.1031C>A (p.Pro344His)
n.199C>A
n.295C>A
n.262C>A
n.504C>A
n.606C>A
c.968C>A (p.Pro323His)
c.1067C>A (p.Pro356His)
c.1001C>A (p.Pro334His)
c.941C>A (p.Pro314His)
c.1034C>A (p.Pro345His)
n.2420C>A
n.2861C>A
c.935C>A (p.Pro312His)
c.902C>A (p.Pro301His)
c.875C>A (p.Pro292His)
c.842C>A (p.Pro281His)
c.809C>A (p.Pro270His)
4g.76112413C=CA1469470958ART3,NUP54c.1097C= (p.Pro366=)
c.*1524G= (n.*1524G=)
c.965C= (p.Pro322=)
c.1064C= (p.Pro355=)
c.998C= (p.Pro333=)
c.1031C= (p.Pro344=)
n.199C=
n.295C=
n.262C=
n.504C=
n.606C=
c.968C= (p.Pro323=)
c.1067C= (p.Pro356=)
c.1001C= (p.Pro334=)
c.941C= (p.Pro314=)
c.1034C= (p.Pro345=)
n.2420C=
n.2861C=
c.935C= (p.Pro312=)
c.902C= (p.Pro301=)
c.875C= (p.Pro292=)
c.842C= (p.Pro281=)
c.809C= (p.Pro270=)
4g.76112413C>GCA357317091ART3,NUP54c.1097C>G (p.Pro366Arg)
c.*1524G>C (n.*1524G>C)
c.965C>G (p.Pro322Arg)
c.1064C>G (p.Pro355Arg)
c.998C>G (p.Pro333Arg)
c.1031C>G (p.Pro344Arg)
n.199C>G
n.295C>G
n.262C>G
n.504C>G
n.606C>G
c.968C>G (p.Pro323Arg)
c.1067C>G (p.Pro356Arg)
c.1001C>G (p.Pro334Arg)
c.941C>G (p.Pro314Arg)
c.1034C>G (p.Pro345Arg)
n.2420C>G
n.2861C>G
c.935C>G (p.Pro312Arg)
c.902C>G (p.Pro301Arg)
c.875C>G (p.Pro292Arg)
c.842C>G (p.Pro281Arg)
c.809C>G (p.Pro270Arg)
 dbSNP gnomAD v4
4g.76112413C>TCA357317093ART3,NUP54c.1097C>T (p.Pro366Leu)
c.*1524G>A (n.*1524G>A)
c.965C>T (p.Pro322Leu)
c.1064C>T (p.Pro355Leu)
c.998C>T (p.Pro333Leu)
c.1031C>T (p.Pro344Leu)
n.199C>T
n.295C>T
n.262C>T
n.504C>T
n.606C>T
c.968C>T (p.Pro323Leu)
c.1067C>T (p.Pro356Leu)
c.1001C>T (p.Pro334Leu)
c.941C>T (p.Pro314Leu)
c.1034C>T (p.Pro345Leu)
n.2420C>T
n.2861C>T
c.935C>T (p.Pro312Leu)
c.902C>T (p.Pro301Leu)
c.875C>T (p.Pro292Leu)
c.842C>T (p.Pro281Leu)
c.809C>T (p.Pro270Leu)
4g.76112414C>ACA439955951ART3,NUP54c.1098C>A (p.Pro366=)
c.*1523G>T (n.*1523G>T)
c.966C>A (p.Pro322=)
c.1065C>A (p.Pro355=)
c.999C>A (p.Pro333=)
c.1032C>A (p.Pro344=)
n.200C>A
n.296C>A
n.263C>A
n.505C>A
n.607C>A
c.969C>A (p.Pro323=)
c.1068C>A (p.Pro356=)
c.1002C>A (p.Pro334=)
c.942C>A (p.Pro314=)
c.1035C>A (p.Pro345=)
n.2421C>A
n.2862C>A
c.936C>A (p.Pro312=)
c.903C>A (p.Pro301=)
c.876C>A (p.Pro292=)
c.843C>A (p.Pro281=)
c.810C>A (p.Pro270=)
4g.76112414C=CA1469470966ART3,NUP54c.1098C= (p.Pro366=)
c.*1523G= (n.*1523G=)
c.966C= (p.Pro322=)
c.1065C= (p.Pro355=)
c.999C= (p.Pro333=)
c.1032C= (p.Pro344=)
n.200C=
n.296C=
n.263C=
n.505C=
n.607C=
c.969C= (p.Pro323=)
c.1068C= (p.Pro356=)
c.1002C= (p.Pro334=)
c.942C= (p.Pro314=)
c.1035C= (p.Pro345=)
n.2421C=
n.2862C=
c.936C= (p.Pro312=)
c.903C= (p.Pro301=)
c.876C= (p.Pro292=)
c.843C= (p.Pro281=)
c.810C= (p.Pro270=)
4g.76112414C>GCA439955952ART3,NUP54c.1098C>G (p.Pro366=)
c.*1523G>C (n.*1523G>C)
c.966C>G (p.Pro322=)
c.1065C>G (p.Pro355=)
c.999C>G (p.Pro333=)
c.1032C>G (p.Pro344=)
n.200C>G
n.296C>G
n.263C>G
n.505C>G
n.607C>G
c.969C>G (p.Pro323=)
c.1068C>G (p.Pro356=)
c.1002C>G (p.Pro334=)
c.942C>G (p.Pro314=)
c.1035C>G (p.Pro345=)
n.2421C>G
n.2862C>G
c.936C>G (p.Pro312=)
c.903C>G (p.Pro301=)
c.876C>G (p.Pro292=)
c.843C>G (p.Pro281=)
c.810C>G (p.Pro270=)
4g.76112414C>TCA2969579ART3,NUP54c.1098C>T (p.Pro366=)
c.*1523G>A (n.*1523G>A)
c.966C>T (p.Pro322=)
c.1065C>T (p.Pro355=)
c.999C>T (p.Pro333=)
c.1032C>T (p.Pro344=)
n.200C>T
n.296C>T
n.263C>T
n.505C>T
n.607C>T
c.969C>T (p.Pro323=)
c.1068C>T (p.Pro356=)
c.1002C>T (p.Pro334=)
c.942C>T (p.Pro314=)
c.1035C>T (p.Pro345=)
n.2421C>T
n.2862C>T
c.936C>T (p.Pro312=)
c.903C>T (p.Pro301=)
c.876C>T (p.Pro292=)
c.843C>T (p.Pro281=)
c.810C>T (p.Pro270=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.76112415A>CCA357317094ART3,NUP54c.1099A>C (p.Lys367Gln)
c.*1522T>G (n.*1522T>G)
c.967A>C (p.Lys323Gln)
c.1066A>C (p.Lys356Gln)
c.1000A>C (p.Lys334Gln)
c.1033A>C (p.Lys345Gln)
n.201A>C
n.297A>C
n.264A>C
n.506A>C
n.608A>C
c.970A>C (p.Lys324Gln)
c.1069A>C (p.Lys357Gln)
c.1003A>C (p.Lys335Gln)
c.943A>C (p.Lys315Gln)
c.1036A>C (p.Lys346Gln)
n.2422A>C
n.2863A>C
c.937A>C (p.Lys313Gln)
c.904A>C (p.Lys302Gln)
c.877A>C (p.Lys293Gln)
c.844A>C (p.Lys282Gln)
c.811A>C (p.Lys271Gln)
4g.76112415A>GCA357317095ART3,NUP54c.1099A>G (p.Lys367Glu)
c.*1522T>C (n.*1522T>C)
c.967A>G (p.Lys323Glu)
c.1066A>G (p.Lys356Glu)
c.1000A>G (p.Lys334Glu)
c.1033A>G (p.Lys345Glu)
n.201A>G
n.297A>G
n.264A>G
n.506A>G
n.608A>G
c.970A>G (p.Lys324Glu)
c.1069A>G (p.Lys357Glu)
c.1003A>G (p.Lys335Glu)
c.943A>G (p.Lys315Glu)
c.1036A>G (p.Lys346Glu)
n.2422A>G
n.2863A>G
c.937A>G (p.Lys313Glu)
c.904A>G (p.Lys302Glu)
c.877A>G (p.Lys293Glu)
c.844A>G (p.Lys282Glu)
c.811A>G (p.Lys271Glu)
4g.76112415A>TCA357317096ART3,NUP54c.1099A>T (p.Lys367Ter)
c.*1522T>A (n.*1522T>A)
c.967A>T (p.Lys323Ter)
c.1066A>T (p.Lys356Ter)
c.1000A>T (p.Lys334Ter)
c.1033A>T (p.Lys345Ter)
n.201A>T
n.297A>T
n.264A>T
n.506A>T
n.608A>T
c.970A>T (p.Lys324Ter)
c.1069A>T (p.Lys357Ter)
c.1003A>T (p.Lys335Ter)
c.943A>T (p.Lys315Ter)
c.1036A>T (p.Lys346Ter)
n.2422A>T
n.2863A>T
c.937A>T (p.Lys313Ter)
c.904A>T (p.Lys302Ter)
c.877A>T (p.Lys293Ter)
c.844A>T (p.Lys282Ter)
c.811A>T (p.Lys271Ter)
4g.76112418delCA2671060462ART3,NUP54c.1102del (p.Ser368AlafsTer21)
c.*1522del (n.*1522del)
c.970del (p.Ser324AlafsTer21)
c.1069del (p.Ser357AlafsTer21)
c.1003del (p.Ser335AlafsTer21)
c.1036del (p.Ser346AlafsTer21)
n.204del
n.300del
n.267del
n.509del
n.611del
c.973del (p.Ser325AlafsTer21)
c.1072del (p.Ser358AlafsTer21)
c.1006del (p.Ser336AlafsTer21)
c.946del (p.Ser316AlafsTer21)
c.1039del (p.Ser347AlafsTer21)
n.2425del
n.2866del
c.940del (p.Ser314AlafsTer21)
c.907del (p.Ser303AlafsTer21)
c.880del (p.Ser294AlafsTer21)
c.847del (p.Ser283AlafsTer21)
c.814del (p.Ser272AlafsTer21)
 gnomAD v4
4g.76112416A>CCA357317098ART3,NUP54c.1100A>C (p.Lys367Thr)
c.*1521T>G (n.*1521T>G)
c.968A>C (p.Lys323Thr)
c.1067A>C (p.Lys356Thr)
c.1001A>C (p.Lys334Thr)
c.1034A>C (p.Lys345Thr)
n.202A>C
n.298A>C
n.265A>C
n.507A>C
n.609A>C
c.971A>C (p.Lys324Thr)
c.1070A>C (p.Lys357Thr)
c.1004A>C (p.Lys335Thr)
c.944A>C (p.Lys315Thr)
c.1037A>C (p.Lys346Thr)
n.2423A>C
n.2864A>C
c.938A>C (p.Lys313Thr)
c.905A>C (p.Lys302Thr)
c.878A>C (p.Lys293Thr)
c.845A>C (p.Lys282Thr)
c.812A>C (p.Lys271Thr)
4g.76112416A>GCA357317099ART3,NUP54c.1100A>G (p.Lys367Arg)
c.*1521T>C (n.*1521T>C)
c.968A>G (p.Lys323Arg)
c.1067A>G (p.Lys356Arg)
c.1001A>G (p.Lys334Arg)
c.1034A>G (p.Lys345Arg)
n.202A>G
n.298A>G
n.265A>G
n.507A>G
n.609A>G
c.971A>G (p.Lys324Arg)
c.1070A>G (p.Lys357Arg)
c.1004A>G (p.Lys335Arg)
c.944A>G (p.Lys315Arg)
c.1037A>G (p.Lys346Arg)
n.2423A>G
n.2864A>G
c.938A>G (p.Lys313Arg)
c.905A>G (p.Lys302Arg)
c.878A>G (p.Lys293Arg)
c.845A>G (p.Lys282Arg)
c.812A>G (p.Lys271Arg)
4g.76112416A>TCA357317097ART3,NUP54c.1100A>T (p.Lys367Ile)
c.*1521T>A (n.*1521T>A)
c.968A>T (p.Lys323Ile)
c.1067A>T (p.Lys356Ile)
c.1001A>T (p.Lys334Ile)
c.1034A>T (p.Lys345Ile)
n.202A>T
n.298A>T
n.265A>T
n.507A>T
n.609A>T
c.971A>T (p.Lys324Ile)
c.1070A>T (p.Lys357Ile)
c.1004A>T (p.Lys335Ile)
c.944A>T (p.Lys315Ile)
c.1037A>T (p.Lys346Ile)
n.2423A>T
n.2864A>T
c.938A>T (p.Lys313Ile)
c.905A>T (p.Lys302Ile)
c.878A>T (p.Lys293Ile)
c.845A>T (p.Lys282Ile)
c.812A>T (p.Lys271Ile)
4g.76112417A>CCA357317100ART3,NUP54c.1101A>C (p.Lys367Asn)
c.*1520T>G (n.*1520T>G)
c.969A>C (p.Lys323Asn)
c.1068A>C (p.Lys356Asn)
c.1002A>C (p.Lys334Asn)
c.1035A>C (p.Lys345Asn)
n.203A>C
n.299A>C
n.266A>C
n.508A>C
n.610A>C
c.972A>C (p.Lys324Asn)
c.1071A>C (p.Lys357Asn)
c.1005A>C (p.Lys335Asn)
c.945A>C (p.Lys315Asn)
c.1038A>C (p.Lys346Asn)
n.2424A>C
n.2865A>C
c.939A>C (p.Lys313Asn)
c.906A>C (p.Lys302Asn)
c.879A>C (p.Lys293Asn)
c.846A>C (p.Lys282Asn)
c.813A>C (p.Lys271Asn)
4g.76112417A>GCA439955956ART3,NUP54c.1101A>G (p.Lys367=)
c.*1520T>C (n.*1520T>C)
c.969A>G (p.Lys323=)
c.1068A>G (p.Lys356=)
c.1002A>G (p.Lys334=)
c.1035A>G (p.Lys345=)
n.203A>G
n.299A>G
n.266A>G
n.508A>G
n.610A>G
c.972A>G (p.Lys324=)
c.1071A>G (p.Lys357=)
c.1005A>G (p.Lys335=)
c.945A>G (p.Lys315=)
c.1038A>G (p.Lys346=)
n.2424A>G
n.2865A>G
c.939A>G (p.Lys313=)
c.906A>G (p.Lys302=)
c.879A>G (p.Lys293=)
c.846A>G (p.Lys282=)
c.813A>G (p.Lys271=)
4g.76112417A>TCA357317101ART3,NUP54c.1101A>T (p.Lys367Asn)
c.*1520T>A (n.*1520T>A)
c.969A>T (p.Lys323Asn)
c.1068A>T (p.Lys356Asn)
c.1002A>T (p.Lys334Asn)
c.1035A>T (p.Lys345Asn)
n.203A>T
n.299A>T
n.266A>T
n.508A>T
n.610A>T
c.972A>T (p.Lys324Asn)
c.1071A>T (p.Lys357Asn)
c.1005A>T (p.Lys335Asn)
c.945A>T (p.Lys315Asn)
c.1038A>T (p.Lys346Asn)
n.2424A>T
n.2865A>T
c.939A>T (p.Lys313Asn)
c.906A>T (p.Lys302Asn)
c.879A>T (p.Lys293Asn)
c.846A>T (p.Lys282Asn)
c.813A>T (p.Lys271Asn)
4g.76112418A>CCA357317102ART3,NUP54c.1102A>C (p.Ser368Arg)
c.*1519T>G (n.*1519T>G)
c.970A>C (p.Ser324Arg)
c.1069A>C (p.Ser357Arg)
c.1003A>C (p.Ser335Arg)
c.1036A>C (p.Ser346Arg)
n.204A>C
n.300A>C
n.267A>C
n.509A>C
n.611A>C
c.973A>C (p.Ser325Arg)
c.1072A>C (p.Ser358Arg)
c.1006A>C (p.Ser336Arg)
c.946A>C (p.Ser316Arg)
c.1039A>C (p.Ser347Arg)
n.2425A>C
n.2866A>C
c.940A>C (p.Ser314Arg)
c.907A>C (p.Ser303Arg)
c.880A>C (p.Ser294Arg)
c.847A>C (p.Ser283Arg)
c.814A>C (p.Ser272Arg)
4g.76112418A>GCA357317103ART3,NUP54c.1102A>G (p.Ser368Gly)
c.*1519T>C (n.*1519T>C)
c.970A>G (p.Ser324Gly)
c.1069A>G (p.Ser357Gly)
c.1003A>G (p.Ser335Gly)
c.1036A>G (p.Ser346Gly)
n.204A>G
n.300A>G
n.267A>G
n.509A>G
n.611A>G
c.973A>G (p.Ser325Gly)
c.1072A>G (p.Ser358Gly)
c.1006A>G (p.Ser336Gly)
c.946A>G (p.Ser316Gly)
c.1039A>G (p.Ser347Gly)
n.2425A>G
n.2866A>G
c.940A>G (p.Ser314Gly)
c.907A>G (p.Ser303Gly)
c.880A>G (p.Ser294Gly)
c.847A>G (p.Ser283Gly)
c.814A>G (p.Ser272Gly)
4g.76112418A>TCA357317104ART3,NUP54c.1102A>T (p.Ser368Cys)
c.*1519T>A (n.*1519T>A)
c.970A>T (p.Ser324Cys)
c.1069A>T (p.Ser357Cys)
c.1003A>T (p.Ser335Cys)
c.1036A>T (p.Ser346Cys)
n.204A>T
n.300A>T
n.267A>T
n.509A>T
n.611A>T
c.973A>T (p.Ser325Cys)
c.1072A>T (p.Ser358Cys)
c.1006A>T (p.Ser336Cys)
c.946A>T (p.Ser316Cys)
c.1039A>T (p.Ser347Cys)
n.2425A>T
n.2866A>T
c.940A>T (p.Ser314Cys)
c.907A>T (p.Ser303Cys)
c.880A>T (p.Ser294Cys)
c.847A>T (p.Ser283Cys)
c.814A>T (p.Ser272Cys)
4g.76112419G>ACA99882486ART3,NUP54c.1103G>A (p.Ser368Asn)
c.*1518C>T (n.*1518C>T)
c.971G>A (p.Ser324Asn)
c.1070G>A (p.Ser357Asn)
c.1004G>A (p.Ser335Asn)
c.1037G>A (p.Ser346Asn)
n.205G>A
n.301G>A
n.268G>A
n.510G>A
n.612G>A
c.974G>A (p.Ser325Asn)
c.1073G>A (p.Ser358Asn)
c.1007G>A (p.Ser336Asn)
c.947G>A (p.Ser316Asn)
c.1040G>A (p.Ser347Asn)
n.2426G>A
n.2867G>A
c.941G>A (p.Ser314Asn)
c.908G>A (p.Ser303Asn)
c.881G>A (p.Ser294Asn)
c.848G>A (p.Ser283Asn)
c.815G>A (p.Ser272Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.76112419G>CCA357317105ART3,NUP54c.1103G>C (p.Ser368Thr)
c.*1518C>G (n.*1518C>G)
c.971G>C (p.Ser324Thr)
c.1070G>C (p.Ser357Thr)
c.1004G>C (p.Ser335Thr)
c.1037G>C (p.Ser346Thr)
n.205G>C
n.301G>C
n.268G>C
n.510G>C
n.612G>C
c.974G>C (p.Ser325Thr)
c.1073G>C (p.Ser358Thr)
c.1007G>C (p.Ser336Thr)
c.947G>C (p.Ser316Thr)
c.1040G>C (p.Ser347Thr)
n.2426G>C
n.2867G>C
c.941G>C (p.Ser314Thr)
c.908G>C (p.Ser303Thr)
c.881G>C (p.Ser294Thr)
c.848G>C (p.Ser283Thr)
c.815G>C (p.Ser272Thr)
4g.76112419G=CA1469470968ART3,NUP54c.1103G= (p.Ser368=)
c.*1518C= (n.*1518C=)
c.971G= (p.Ser324=)
c.1070G= (p.Ser357=)
c.1004G= (p.Ser335=)
c.1037G= (p.Ser346=)
n.205G=
n.301G=
n.268G=
n.510G=
n.612G=
c.974G= (p.Ser325=)
c.1073G= (p.Ser358=)
c.1007G= (p.Ser336=)
c.947G= (p.Ser316=)
c.1040G= (p.Ser347=)
n.2426G=
n.2867G=
c.941G= (p.Ser314=)
c.908G= (p.Ser303=)
c.881G= (p.Ser294=)
c.848G= (p.Ser283=)
c.815G= (p.Ser272=)
4g.76112419G>TCA357317106ART3,NUP54c.1103G>T (p.Ser368Ile)
c.*1518C>A (n.*1518C>A)
c.971G>T (p.Ser324Ile)
c.1070G>T (p.Ser357Ile)
c.1004G>T (p.Ser335Ile)
c.1037G>T (p.Ser346Ile)
n.205G>T
n.301G>T
n.268G>T
n.510G>T
n.612G>T
c.974G>T (p.Ser325Ile)
c.1073G>T (p.Ser358Ile)
c.1007G>T (p.Ser336Ile)
c.947G>T (p.Ser316Ile)
c.1040G>T (p.Ser347Ile)
n.2426G>T
n.2867G>T
c.941G>T (p.Ser314Ile)
c.908G>T (p.Ser303Ile)
c.881G>T (p.Ser294Ile)
c.848G>T (p.Ser283Ile)
c.815G>T (p.Ser272Ile)
4g.76112420C>ACA357317107ART3,NUP54c.1104C>A (p.Ser368Arg)
c.*1517G>T (n.*1517G>T)
c.972C>A (p.Ser324Arg)
c.1071C>A (p.Ser357Arg)
c.1005C>A (p.Ser335Arg)
c.1038C>A (p.Ser346Arg)
n.206C>A
n.302C>A
n.269C>A
n.511C>A
n.613C>A
c.975C>A (p.Ser325Arg)
c.1074C>A (p.Ser358Arg)
c.1008C>A (p.Ser336Arg)
c.948C>A (p.Ser316Arg)
c.1041C>A (p.Ser347Arg)
n.2427C>A
n.2868C>A
c.942C>A (p.Ser314Arg)
c.909C>A (p.Ser303Arg)
c.882C>A (p.Ser294Arg)
c.849C>A (p.Ser283Arg)
c.816C>A (p.Ser272Arg)
4g.76112420C>GCA357317108ART3,NUP54c.1104C>G (p.Ser368Arg)
c.*1517G>C (n.*1517G>C)
c.972C>G (p.Ser324Arg)
c.1071C>G (p.Ser357Arg)
c.1005C>G (p.Ser335Arg)
c.1038C>G (p.Ser346Arg)
n.206C>G
n.302C>G
n.269C>G
n.511C>G
n.613C>G
c.975C>G (p.Ser325Arg)
c.1074C>G (p.Ser358Arg)
c.1008C>G (p.Ser336Arg)
c.948C>G (p.Ser316Arg)
c.1041C>G (p.Ser347Arg)
n.2427C>G
n.2868C>G
c.942C>G (p.Ser314Arg)
c.909C>G (p.Ser303Arg)
c.882C>G (p.Ser294Arg)
c.849C>G (p.Ser283Arg)
c.816C>G (p.Ser272Arg)
4g.76112420C>TCA439955961ART3,NUP54c.1104C>T (p.Ser368=)
c.*1517G>A (n.*1517G>A)
c.972C>T (p.Ser324=)
c.1071C>T (p.Ser357=)
c.1005C>T (p.Ser335=)
c.1038C>T (p.Ser346=)
n.206C>T
n.302C>T
n.269C>T
n.511C>T
n.613C>T
c.975C>T (p.Ser325=)
c.1074C>T (p.Ser358=)
c.1008C>T (p.Ser336=)
c.948C>T (p.Ser316=)
c.1041C>T (p.Ser347=)
n.2427C>T
n.2868C>T
c.942C>T (p.Ser314=)
c.909C>T (p.Ser303=)
c.882C>T (p.Ser294=)
c.849C>T (p.Ser283=)
c.816C>T (p.Ser272=)
4g.76112421C>ACA357317109ART3,NUP54c.1105C>A (p.His369Asn)
c.*1516G>T (n.*1516G>T)
c.973C>A (p.His325Asn)
c.1072C>A (p.His358Asn)
c.1006C>A (p.His336Asn)
c.1039C>A (p.His347Asn)
n.207C>A
n.303C>A
n.270C>A
n.512C>A
n.614C>A
c.976C>A (p.His326Asn)
c.1075C>A (p.His359Asn)
c.1009C>A (p.His337Asn)
c.949C>A (p.His317Asn)
c.1042C>A (p.His348Asn)
n.2428C>A
n.2869C>A
c.943C>A (p.His315Asn)
c.910C>A (p.His304Asn)
c.883C>A (p.His295Asn)
c.850C>A (p.His284Asn)
c.817C>A (p.His273Asn)
 dbSNP
4g.76112421C=CA1469470971ART3,NUP54c.1105C= (p.His369=)
c.*1516G= (n.*1516G=)
c.973C= (p.His325=)
c.1072C= (p.His358=)
c.1006C= (p.His336=)
c.1039C= (p.His347=)
n.207C=
n.303C=
n.270C=
n.512C=
n.614C=
c.976C= (p.His326=)
c.1075C= (p.His359=)
c.1009C= (p.His337=)
c.949C= (p.His317=)
c.1042C= (p.His348=)
n.2428C=
n.2869C=
c.943C= (p.His315=)
c.910C= (p.His304=)
c.883C= (p.His295=)
c.850C= (p.His284=)
c.817C= (p.His273=)
4g.76112421C>GCA357317110ART3,NUP54c.1105C>G (p.His369Asp)
c.*1516G>C (n.*1516G>C)
c.973C>G (p.His325Asp)
c.1072C>G (p.His358Asp)
c.1006C>G (p.His336Asp)
c.1039C>G (p.His347Asp)
n.207C>G
n.303C>G
n.270C>G
n.512C>G
n.614C>G
c.976C>G (p.His326Asp)
c.1075C>G (p.His359Asp)
c.1009C>G (p.His337Asp)
c.949C>G (p.His317Asp)
c.1042C>G (p.His348Asp)
n.2428C>G
n.2869C>G
c.943C>G (p.His315Asp)
c.910C>G (p.His304Asp)
c.883C>G (p.His295Asp)
c.850C>G (p.His284Asp)
c.817C>G (p.His273Asp)
4g.76112421C>TCA357317111ART3,NUP54c.1105C>T (p.His369Tyr)
c.*1516G>A (n.*1516G>A)
c.973C>T (p.His325Tyr)
c.1072C>T (p.His358Tyr)
c.1006C>T (p.His336Tyr)
c.1039C>T (p.His347Tyr)
n.207C>T
n.303C>T
n.270C>T
n.512C>T
n.614C>T
c.976C>T (p.His326Tyr)
c.1075C>T (p.His359Tyr)
c.1009C>T (p.His337Tyr)
c.949C>T (p.His317Tyr)
c.1042C>T (p.His348Tyr)
n.2428C>T
n.2869C>T
c.943C>T (p.His315Tyr)
c.910C>T (p.His304Tyr)
c.883C>T (p.His295Tyr)
c.850C>T (p.His284Tyr)
c.817C>T (p.His273Tyr)
 COSMIC COSMIC
4g.76112422A>CCA357317114ART3,NUP54c.1106A>C (p.His369Pro)
c.*1515T>G (n.*1515T>G)
c.974A>C (p.His325Pro)
c.1073A>C (p.His358Pro)
c.1007A>C (p.His336Pro)
c.1040A>C (p.His347Pro)
n.208A>C
n.304A>C
n.271A>C
n.513A>C
n.615A>C
c.977A>C (p.His326Pro)
c.1076A>C (p.His359Pro)
c.1010A>C (p.His337Pro)
c.950A>C (p.His317Pro)
c.1043A>C (p.His348Pro)
n.2429A>C
n.2870A>C
c.944A>C (p.His315Pro)
c.911A>C (p.His304Pro)
c.884A>C (p.His295Pro)
c.851A>C (p.His284Pro)
c.818A>C (p.His273Pro)
4g.76112422A>GCA357317112ART3,NUP54c.1106A>G (p.His369Arg)
c.*1515T>C (n.*1515T>C)
c.974A>G (p.His325Arg)
c.1073A>G (p.His358Arg)
c.1007A>G (p.His336Arg)
c.1040A>G (p.His347Arg)
n.208A>G
n.304A>G
n.271A>G
n.513A>G
n.615A>G
c.977A>G (p.His326Arg)
c.1076A>G (p.His359Arg)
c.1010A>G (p.His337Arg)
c.950A>G (p.His317Arg)
c.1043A>G (p.His348Arg)
n.2429A>G
n.2870A>G
c.944A>G (p.His315Arg)
c.911A>G (p.His304Arg)
c.884A>G (p.His295Arg)
c.851A>G (p.His284Arg)
c.818A>G (p.His273Arg)
4g.76112422A>TCA357317113ART3,NUP54c.1106A>T (p.His369Leu)
c.*1515T>A (n.*1515T>A)
c.974A>T (p.His325Leu)
c.1073A>T (p.His358Leu)
c.1007A>T (p.His336Leu)
c.1040A>T (p.His347Leu)
n.208A>T
n.304A>T
n.271A>T
n.513A>T
n.615A>T
c.977A>T (p.His326Leu)
c.1076A>T (p.His359Leu)
c.1010A>T (p.His337Leu)
c.950A>T (p.His317Leu)
c.1043A>T (p.His348Leu)
n.2429A>T
n.2870A>T
c.944A>T (p.His315Leu)
c.911A>T (p.His304Leu)
c.884A>T (p.His295Leu)
c.851A>T (p.His284Leu)
c.818A>T (p.His273Leu)
4g.76112423T>ACA357317115ART3,NUP54c.1107T>A (p.His369Gln)
c.*1514A>T (n.*1514A>T)
c.975T>A (p.His325Gln)
c.1074T>A (p.His358Gln)
c.1008T>A (p.His336Gln)
c.1041T>A (p.His347Gln)
n.209T>A
n.305T>A
n.272T>A
n.514T>A
n.616T>A
c.978T>A (p.His326Gln)
c.1077T>A (p.His359Gln)
c.1011T>A (p.His337Gln)
c.951T>A (p.His317Gln)
c.1044T>A (p.His348Gln)
n.2430T>A
n.2871T>A
c.945T>A (p.His315Gln)
c.912T>A (p.His304Gln)
c.885T>A (p.His295Gln)
c.852T>A (p.His284Gln)
c.819T>A (p.His273Gln)
4g.76112423T>CCA439955965ART3,NUP54c.1107T>C (p.His369=)
c.*1514A>G (n.*1514A>G)
c.975T>C (p.His325=)
c.1074T>C (p.His358=)
c.1008T>C (p.His336=)
c.1041T>C (p.His347=)
n.209T>C
n.305T>C
n.272T>C
n.514T>C
n.616T>C
c.978T>C (p.His326=)
c.1077T>C (p.His359=)
c.1011T>C (p.His337=)
c.951T>C (p.His317=)
c.1044T>C (p.His348=)
n.2430T>C
n.2871T>C
c.945T>C (p.His315=)
c.912T>C (p.His304=)
c.885T>C (p.His295=)
c.852T>C (p.His284=)
c.819T>C (p.His273=)
 gnomAD v4
4g.76112423T>GCA357317116ART3,NUP54c.1107T>G (p.His369Gln)
c.*1514A>C (n.*1514A>C)
c.975T>G (p.His325Gln)
c.1074T>G (p.His358Gln)
c.1008T>G (p.His336Gln)
c.1041T>G (p.His347Gln)
n.209T>G
n.305T>G
n.272T>G
n.514T>G
n.616T>G
c.978T>G (p.His326Gln)
c.1077T>G (p.His359Gln)
c.1011T>G (p.His337Gln)
c.951T>G (p.His317Gln)
c.1044T>G (p.His348Gln)
n.2430T>G
n.2871T>G
c.945T>G (p.His315Gln)
c.912T>G (p.His304Gln)
c.885T>G (p.His295Gln)
c.852T>G (p.His284Gln)
c.819T>G (p.His273Gln)
4g.76112424C>ACA357317117ART3,NUP54c.1108C>A (p.Pro370Thr)
c.*1513G>T (n.*1513G>T)
c.976C>A (p.Pro326Thr)
c.1075C>A (p.Pro359Thr)
c.1009C>A (p.Pro337Thr)
c.1042C>A (p.Pro348Thr)
n.210C>A
n.306C>A
n.273C>A
n.515C>A
n.617C>A
c.979C>A (p.Pro327Thr)
c.1078C>A (p.Pro360Thr)
c.1012C>A (p.Pro338Thr)
c.952C>A (p.Pro318Thr)
c.1045C>A (p.Pro349Thr)
n.2431C>A
n.2872C>A
c.946C>A (p.Pro316Thr)
c.913C>A (p.Pro305Thr)
c.886C>A (p.Pro296Thr)
c.853C>A (p.Pro285Thr)
c.820C>A (p.Pro274Thr)
4g.76112424C=CA1469470975ART3,NUP54c.1108C= (p.Pro370=)
c.*1513G= (n.*1513G=)
c.976C= (p.Pro326=)
c.1075C= (p.Pro359=)
c.1009C= (p.Pro337=)
c.1042C= (p.Pro348=)
n.210C=
n.306C=
n.273C=
n.515C=
n.617C=
c.979C= (p.Pro327=)
c.1078C= (p.Pro360=)
c.1012C= (p.Pro338=)
c.952C= (p.Pro318=)
c.1045C= (p.Pro349=)
n.2431C=
n.2872C=
c.946C= (p.Pro316=)
c.913C= (p.Pro305=)
c.886C= (p.Pro296=)
c.853C= (p.Pro285=)
c.820C= (p.Pro274=)
4g.76112424C>GCA357317118ART3,NUP54c.1108C>G (p.Pro370Ala)
c.*1513G>C (n.*1513G>C)
c.976C>G (p.Pro326Ala)
c.1075C>G (p.Pro359Ala)
c.1009C>G (p.Pro337Ala)
c.1042C>G (p.Pro348Ala)
n.210C>G
n.306C>G
n.273C>G
n.515C>G
n.617C>G
c.979C>G (p.Pro327Ala)
c.1078C>G (p.Pro360Ala)
c.1012C>G (p.Pro338Ala)
c.952C>G (p.Pro318Ala)
c.1045C>G (p.Pro349Ala)
n.2431C>G
n.2872C>G
c.946C>G (p.Pro316Ala)
c.913C>G (p.Pro305Ala)
c.886C>G (p.Pro296Ala)
c.853C>G (p.Pro285Ala)
c.820C>G (p.Pro274Ala)
4g.76112424C>TCA357317119ART3,NUP54c.1108C>T (p.Pro370Ser)
c.*1513G>A (n.*1513G>A)
c.976C>T (p.Pro326Ser)
c.1075C>T (p.Pro359Ser)
c.1009C>T (p.Pro337Ser)
c.1042C>T (p.Pro348Ser)
n.210C>T
n.306C>T
n.273C>T
n.515C>T
n.617C>T
c.979C>T (p.Pro327Ser)
c.1078C>T (p.Pro360Ser)
c.1012C>T (p.Pro338Ser)
c.952C>T (p.Pro318Ser)
c.1045C>T (p.Pro349Ser)
n.2431C>T
n.2872C>T
c.946C>T (p.Pro316Ser)
c.913C>T (p.Pro305Ser)
c.886C>T (p.Pro296Ser)
c.853C>T (p.Pro285Ser)
c.820C>T (p.Pro274Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.76112425C>ACA357317120ART3,NUP54c.1109C>A (p.Pro370His)
c.*1512G>T (n.*1512G>T)
c.977C>A (p.Pro326His)
c.1076C>A (p.Pro359His)
c.1010C>A (p.Pro337His)
c.1043C>A (p.Pro348His)
n.211C>A
n.307C>A
n.274C>A
n.516C>A
n.618C>A
c.980C>A (p.Pro327His)
c.1079C>A (p.Pro360His)
c.1013C>A (p.Pro338His)
c.953C>A (p.Pro318His)
c.1046C>A (p.Pro349His)
n.2432C>A
n.2873C>A
c.947C>A (p.Pro316His)
c.914C>A (p.Pro305His)
c.887C>A (p.Pro296His)
c.854C>A (p.Pro285His)
c.821C>A (p.Pro274His)
 gnomAD v4
4g.76112425C=CA1469470979ART3,NUP54c.1109C= (p.Pro370=)
c.*1512G= (n.*1512G=)
c.977C= (p.Pro326=)
c.1076C= (p.Pro359=)
c.1010C= (p.Pro337=)
c.1043C= (p.Pro348=)
n.211C=
n.307C=
n.274C=
n.516C=
n.618C=
c.980C= (p.Pro327=)
c.1079C= (p.Pro360=)
c.1013C= (p.Pro338=)
c.953C= (p.Pro318=)
c.1046C= (p.Pro349=)
n.2432C=
n.2873C=
c.947C= (p.Pro316=)
c.914C= (p.Pro305=)
c.887C= (p.Pro296=)
c.854C= (p.Pro285=)
c.821C= (p.Pro274=)
4g.76112425C>GCA357317121ART3,NUP54c.1109C>G (p.Pro370Arg)
c.*1512G>C (n.*1512G>C)
c.977C>G (p.Pro326Arg)
c.1076C>G (p.Pro359Arg)
c.1010C>G (p.Pro337Arg)
c.1043C>G (p.Pro348Arg)
n.211C>G
n.307C>G
n.274C>G
n.516C>G
n.618C>G
c.980C>G (p.Pro327Arg)
c.1079C>G (p.Pro360Arg)
c.1013C>G (p.Pro338Arg)
c.953C>G (p.Pro318Arg)
c.1046C>G (p.Pro349Arg)
n.2432C>G
n.2873C>G
c.947C>G (p.Pro316Arg)
c.914C>G (p.Pro305Arg)
c.887C>G (p.Pro296Arg)
c.854C>G (p.Pro285Arg)
c.821C>G (p.Pro274Arg)
4g.76112425C>TCA2969580ART3,NUP54c.1109C>T (p.Pro370Leu)
c.*1512G>A (n.*1512G>A)
c.977C>T (p.Pro326Leu)
c.1076C>T (p.Pro359Leu)
c.1010C>T (p.Pro337Leu)
c.1043C>T (p.Pro348Leu)
n.211C>T
n.307C>T
n.274C>T
n.516C>T
n.618C>T
c.980C>T (p.Pro327Leu)
c.1079C>T (p.Pro360Leu)
c.1013C>T (p.Pro338Leu)
c.953C>T (p.Pro318Leu)
c.1046C>T (p.Pro349Leu)
n.2432C>T
n.2873C>T
c.947C>T (p.Pro316Leu)
c.914C>T (p.Pro305Leu)
c.887C>T (p.Pro296Leu)
c.854C>T (p.Pro285Leu)
c.821C>T (p.Pro274Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.76112426T>ACA439955967ART3,NUP54c.1110T>A (p.Pro370=)
c.*1511A>T (n.*1511A>T)
c.978T>A (p.Pro326=)
c.1077T>A (p.Pro359=)
c.1011T>A (p.Pro337=)
c.1044T>A (p.Pro348=)
n.212T>A
n.308T>A
n.275T>A
n.517T>A
n.619T>A
c.981T>A (p.Pro327=)
c.1080T>A (p.Pro360=)
c.1014T>A (p.Pro338=)
c.954T>A (p.Pro318=)
c.1047T>A (p.Pro349=)
n.2433T>A
n.2874T>A
c.948T>A (p.Pro316=)
c.915T>A (p.Pro305=)
c.888T>A (p.Pro296=)
c.855T>A (p.Pro285=)
c.822T>A (p.Pro274=)
4g.76112426T>CCA439955968ART3,NUP54c.1110T>C (p.Pro370=)
c.*1511A>G (n.*1511A>G)
c.978T>C (p.Pro326=)
c.1077T>C (p.Pro359=)
c.1011T>C (p.Pro337=)
c.1044T>C (p.Pro348=)
n.212T>C
n.308T>C
n.275T>C
n.517T>C
n.619T>C
c.981T>C (p.Pro327=)
c.1080T>C (p.Pro360=)
c.1014T>C (p.Pro338=)
c.954T>C (p.Pro318=)
c.1047T>C (p.Pro349=)
n.2433T>C
n.2874T>C
c.948T>C (p.Pro316=)
c.915T>C (p.Pro305=)
c.888T>C (p.Pro296=)
c.855T>C (p.Pro285=)
c.822T>C (p.Pro274=)
4g.76112426T>GCA439955969ART3,NUP54c.1110T>G (p.Pro370=)
c.*1511A>C (n.*1511A>C)
c.978T>G (p.Pro326=)
c.1077T>G (p.Pro359=)
c.1011T>G (p.Pro337=)
c.1044T>G (p.Pro348=)
n.212T>G
n.308T>G
n.275T>G
n.517T>G
n.619T>G
c.981T>G (p.Pro327=)
c.1080T>G (p.Pro360=)
c.1014T>G (p.Pro338=)
c.954T>G (p.Pro318=)
c.1047T>G (p.Pro349=)
n.2433T>G
n.2874T>G
c.948T>G (p.Pro316=)
c.915T>G (p.Pro305=)
c.888T>G (p.Pro296=)
c.855T>G (p.Pro285=)
c.822T>G (p.Pro274=)
4g.76112427T>ACA357317122ART3,NUP54c.1111T>A (p.Ser371Thr)
c.*1510A>T (n.*1510A>T)
c.979T>A (p.Ser327Thr)
c.1078T>A (p.Ser360Thr)
c.1012T>A (p.Ser338Thr)
c.1045T>A (p.Ser349Thr)
n.213T>A
n.309T>A
n.276T>A
n.518T>A
n.620T>A
c.982T>A (p.Ser328Thr)
c.1081T>A (p.Ser361Thr)
c.1015T>A (p.Ser339Thr)
c.955T>A (p.Ser319Thr)
c.1048T>A (p.Ser350Thr)
n.2434T>A
n.2875T>A
c.949T>A (p.Ser317Thr)
c.916T>A (p.Ser306Thr)
c.889T>A (p.Ser297Thr)
c.856T>A (p.Ser286Thr)
c.823T>A (p.Ser275Thr)
4g.76112427T>CCA357317123ART3,NUP54c.1111T>C (p.Ser371Pro)
c.*1510A>G (n.*1510A>G)
c.979T>C (p.Ser327Pro)
c.1078T>C (p.Ser360Pro)
c.1012T>C (p.Ser338Pro)
c.1045T>C (p.Ser349Pro)
n.213T>C
n.309T>C
n.276T>C
n.518T>C
n.620T>C
c.982T>C (p.Ser328Pro)
c.1081T>C (p.Ser361Pro)
c.1015T>C (p.Ser339Pro)
c.955T>C (p.Ser319Pro)
c.1048T>C (p.Ser350Pro)
n.2434T>C
n.2875T>C
c.949T>C (p.Ser317Pro)
c.916T>C (p.Ser306Pro)
c.889T>C (p.Ser297Pro)
c.856T>C (p.Ser286Pro)
c.823T>C (p.Ser275Pro)
4g.76112427T>GCA357317124ART3,NUP54c.1111T>G (p.Ser371Ala)
c.*1510A>C (n.*1510A>C)
c.979T>G (p.Ser327Ala)
c.1078T>G (p.Ser360Ala)
c.1012T>G (p.Ser338Ala)
c.1045T>G (p.Ser349Ala)
n.213T>G
n.309T>G
n.276T>G
n.518T>G
n.620T>G
c.982T>G (p.Ser328Ala)
c.1081T>G (p.Ser361Ala)
c.1015T>G (p.Ser339Ala)
c.955T>G (p.Ser319Ala)
c.1048T>G (p.Ser350Ala)
n.2434T>G
n.2875T>G
c.949T>G (p.Ser317Ala)
c.916T>G (p.Ser306Ala)
c.889T>G (p.Ser297Ala)
c.856T>G (p.Ser286Ala)
c.823T>G (p.Ser275Ala)
4g.76112428C>ACA357317125ART3,NUP54c.1112C>A (p.Ser371Tyr)
c.*1509G>T (n.*1509G>T)
c.980C>A (p.Ser327Tyr)
c.1079C>A (p.Ser360Tyr)
c.1013C>A (p.Ser338Tyr)
c.1046C>A (p.Ser349Tyr)
n.214C>A
n.310C>A
n.277C>A
n.519C>A
n.621C>A
c.983C>A (p.Ser328Tyr)
c.1082C>A (p.Ser361Tyr)
c.1016C>A (p.Ser339Tyr)
c.956C>A (p.Ser319Tyr)
c.1049C>A (p.Ser350Tyr)
n.2435C>A
n.2876C>A
c.950C>A (p.Ser317Tyr)
c.917C>A (p.Ser306Tyr)
c.890C>A (p.Ser297Tyr)
c.857C>A (p.Ser286Tyr)
c.824C>A (p.Ser275Tyr)
4g.76112428C=CA1469470982ART3,NUP54c.1112C= (p.Ser371=)
c.*1509G= (n.*1509G=)
c.980C= (p.Ser327=)
c.1079C= (p.Ser360=)
c.1013C= (p.Ser338=)
c.1046C= (p.Ser349=)
n.214C=
n.310C=
n.277C=
n.519C=
n.621C=
c.983C= (p.Ser328=)
c.1082C= (p.Ser361=)
c.1016C= (p.Ser339=)
c.956C= (p.Ser319=)
c.1049C= (p.Ser350=)
n.2435C=
n.2876C=
c.950C= (p.Ser317=)
c.917C= (p.Ser306=)
c.890C= (p.Ser297=)
c.857C= (p.Ser286=)
c.824C= (p.Ser275=)
4g.76112428C>GCA357317126ART3,NUP54c.1112C>G (p.Ser371Cys)
c.*1509G>C (n.*1509G>C)
c.980C>G (p.Ser327Cys)
c.1079C>G (p.Ser360Cys)
c.1013C>G (p.Ser338Cys)
c.1046C>G (p.Ser349Cys)
n.214C>G
n.310C>G
n.277C>G
n.519C>G
n.621C>G
c.983C>G (p.Ser328Cys)
c.1082C>G (p.Ser361Cys)
c.1016C>G (p.Ser339Cys)
c.956C>G (p.Ser319Cys)
c.1049C>G (p.Ser350Cys)
n.2435C>G
n.2876C>G
c.950C>G (p.Ser317Cys)
c.917C>G (p.Ser306Cys)
c.890C>G (p.Ser297Cys)
c.857C>G (p.Ser286Cys)
c.824C>G (p.Ser275Cys)
4g.76112428C>TCA2969581ART3,NUP54c.1112C>T (p.Ser371Phe)
c.*1509G>A (n.*1509G>A)
c.980C>T (p.Ser327Phe)
c.1079C>T (p.Ser360Phe)
c.1013C>T (p.Ser338Phe)
c.1046C>T (p.Ser349Phe)
n.214C>T
n.310C>T
n.277C>T
n.519C>T
n.621C>T
c.983C>T (p.Ser328Phe)
c.1082C>T (p.Ser361Phe)
c.1016C>T (p.Ser339Phe)
c.956C>T (p.Ser319Phe)
c.1049C>T (p.Ser350Phe)
n.2435C>T
n.2876C>T
c.950C>T (p.Ser317Phe)
c.917C>T (p.Ser306Phe)
c.890C>T (p.Ser297Phe)
c.857C>T (p.Ser286Phe)
c.824C>T (p.Ser275Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.76112429T>ACA439955971ART3,NUP54c.1113T>A (p.Ser371=)
c.*1508A>T (n.*1508A>T)
c.981T>A (p.Ser327=)
c.1080T>A (p.Ser360=)
c.1014T>A (p.Ser338=)
c.1047T>A (p.Ser349=)
n.215T>A
n.311T>A
n.278T>A
n.520T>A
n.622T>A
c.984T>A (p.Ser328=)
c.1083T>A (p.Ser361=)
c.1017T>A (p.Ser339=)
c.957T>A (p.Ser319=)
c.1050T>A (p.Ser350=)
n.2436T>A
n.2877T>A
c.951T>A (p.Ser317=)
c.918T>A (p.Ser306=)
c.891T>A (p.Ser297=)
c.858T>A (p.Ser286=)
c.825T>A (p.Ser275=)
4g.76112429T>CCA439955973ART3,NUP54c.1113T>C (p.Ser371=)
c.*1508A>G (n.*1508A>G)
c.981T>C (p.Ser327=)
c.1080T>C (p.Ser360=)
c.1014T>C (p.Ser338=)
c.1047T>C (p.Ser349=)
n.215T>C
n.311T>C
n.278T>C
n.520T>C
n.622T>C
c.984T>C (p.Ser328=)
c.1083T>C (p.Ser361=)
c.1017T>C (p.Ser339=)
c.957T>C (p.Ser319=)
c.1050T>C (p.Ser350=)
n.2436T>C
n.2877T>C
c.951T>C (p.Ser317=)
c.918T>C (p.Ser306=)
c.891T>C (p.Ser297=)
c.858T>C (p.Ser286=)
c.825T>C (p.Ser275=)
 gnomAD v4
4g.76112429T>GCA2969582ART3,NUP54c.1113T>G (p.Ser371=)
c.*1508A>C (n.*1508A>C)
c.981T>G (p.Ser327=)
c.1080T>G (p.Ser360=)
c.1014T>G (p.Ser338=)
c.1047T>G (p.Ser349=)
n.215T>G
n.311T>G
n.278T>G
n.520T>G
n.622T>G
c.984T>G (p.Ser328=)
c.1083T>G (p.Ser361=)
c.1017T>G (p.Ser339=)
c.957T>G (p.Ser319=)
c.1050T>G (p.Ser350=)
n.2436T>G
n.2877T>G
c.951T>G (p.Ser317=)
c.918T>G (p.Ser306=)
c.891T>G (p.Ser297=)
c.858T>G (p.Ser286=)
c.825T>G (p.Ser275=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112429T=CA1469470985ART3,NUP54c.1113T= (p.Ser371=)
c.*1508A= (n.*1508A=)
c.981T= (p.Ser327=)
c.1080T= (p.Ser360=)
c.1014T= (p.Ser338=)
c.1047T= (p.Ser349=)
n.215T=
n.311T=
n.278T=
n.520T=
n.622T=
c.984T= (p.Ser328=)
c.1083T= (p.Ser361=)
c.1017T= (p.Ser339=)
c.957T= (p.Ser319=)
c.1050T= (p.Ser350=)
n.2436T=
n.2877T=
c.951T= (p.Ser317=)
c.918T= (p.Ser306=)
c.891T= (p.Ser297=)
c.858T= (p.Ser286=)
c.825T= (p.Ser275=)
4g.76112430G>ACA357317127ART3,NUP54c.1114G>A (p.Ala372Thr)
c.*1507C>T (n.*1507C>T)
c.982G>A (p.Ala328Thr)
c.1081G>A (p.Ala361Thr)
c.1015G>A (p.Ala339Thr)
c.1048G>A (p.Ala350Thr)
n.216G>A
n.312G>A
n.279G>A
n.521G>A
n.623G>A
c.985G>A (p.Ala329Thr)
c.1084G>A (p.Ala362Thr)
c.1018G>A (p.Ala340Thr)
c.958G>A (p.Ala320Thr)
c.1051G>A (p.Ala351Thr)
n.2437G>A
n.2878G>A
c.952G>A (p.Ala318Thr)
c.919G>A (p.Ala307Thr)
c.892G>A (p.Ala298Thr)
c.859G>A (p.Ala287Thr)
c.826G>A (p.Ala276Thr)
4g.76112430G>CCA357317128ART3,NUP54c.1114G>C (p.Ala372Pro)
c.*1507C>G (n.*1507C>G)
c.982G>C (p.Ala328Pro)
c.1081G>C (p.Ala361Pro)
c.1015G>C (p.Ala339Pro)
c.1048G>C (p.Ala350Pro)
n.216G>C
n.312G>C
n.279G>C
n.521G>C
n.623G>C
c.985G>C (p.Ala329Pro)
c.1084G>C (p.Ala362Pro)
c.1018G>C (p.Ala340Pro)
c.958G>C (p.Ala320Pro)
c.1051G>C (p.Ala351Pro)
n.2437G>C
n.2878G>C
c.952G>C (p.Ala318Pro)
c.919G>C (p.Ala307Pro)
c.892G>C (p.Ala298Pro)
c.859G>C (p.Ala287Pro)
c.826G>C (p.Ala276Pro)
4g.76112430G>TCA357317129ART3,NUP54c.1114G>T (p.Ala372Ser)
c.*1507C>A (n.*1507C>A)
c.982G>T (p.Ala328Ser)
c.1081G>T (p.Ala361Ser)
c.1015G>T (p.Ala339Ser)
c.1048G>T (p.Ala350Ser)
n.216G>T
n.312G>T
n.279G>T
n.521G>T
n.623G>T
c.985G>T (p.Ala329Ser)
c.1084G>T (p.Ala362Ser)
c.1018G>T (p.Ala340Ser)
c.958G>T (p.Ala320Ser)
c.1051G>T (p.Ala351Ser)
n.2437G>T
n.2878G>T
c.952G>T (p.Ala318Ser)
c.919G>T (p.Ala307Ser)
c.892G>T (p.Ala298Ser)
c.859G>T (p.Ala287Ser)
c.826G>T (p.Ala276Ser)
4g.76112431C>ACA357317130ART3,NUP54c.1115C>A (p.Ala372Glu)
c.*1506G>T (n.*1506G>T)
c.983C>A (p.Ala328Glu)
c.1082C>A (p.Ala361Glu)
c.1016C>A (p.Ala339Glu)
c.1049C>A (p.Ala350Glu)
n.217C>A
n.313C>A
n.280C>A
n.522C>A
n.624C>A
c.986C>A (p.Ala329Glu)
c.1085C>A (p.Ala362Glu)
c.1019C>A (p.Ala340Glu)
c.959C>A (p.Ala320Glu)
c.1052C>A (p.Ala351Glu)
n.2438C>A
n.2879C>A
c.953C>A (p.Ala318Glu)
c.920C>A (p.Ala307Glu)
c.893C>A (p.Ala298Glu)
c.860C>A (p.Ala287Glu)
c.827C>A (p.Ala276Glu)
4g.76112431C>GCA357317131ART3,NUP54c.1115C>G (p.Ala372Gly)
c.*1506G>C (n.*1506G>C)
c.983C>G (p.Ala328Gly)
c.1082C>G (p.Ala361Gly)
c.1016C>G (p.Ala339Gly)
c.1049C>G (p.Ala350Gly)
n.217C>G
n.313C>G
n.280C>G
n.522C>G
n.624C>G
c.986C>G (p.Ala329Gly)
c.1085C>G (p.Ala362Gly)
c.1019C>G (p.Ala340Gly)
c.959C>G (p.Ala320Gly)
c.1052C>G (p.Ala351Gly)
n.2438C>G
n.2879C>G
c.953C>G (p.Ala318Gly)
c.920C>G (p.Ala307Gly)
c.893C>G (p.Ala298Gly)
c.860C>G (p.Ala287Gly)
c.827C>G (p.Ala276Gly)
4g.76112431C>TCA357317132ART3,NUP54c.1115C>T (p.Ala372Val)
c.*1506G>A (n.*1506G>A)
c.983C>T (p.Ala328Val)
c.1082C>T (p.Ala361Val)
c.1016C>T (p.Ala339Val)
c.1049C>T (p.Ala350Val)
n.217C>T
n.313C>T
n.280C>T
n.522C>T
n.624C>T
c.986C>T (p.Ala329Val)
c.1085C>T (p.Ala362Val)
c.1019C>T (p.Ala340Val)
c.959C>T (p.Ala320Val)
c.1052C>T (p.Ala351Val)
n.2438C>T
n.2879C>T
c.953C>T (p.Ala318Val)
c.920C>T (p.Ala307Val)
c.893C>T (p.Ala298Val)
c.860C>T (p.Ala287Val)
c.827C>T (p.Ala276Val)
4g.76112432A=CA1469470987ART3,NUP54c.1116A= (p.Ala372=)
c.*1505T= (n.*1505T=)
c.984A= (p.Ala328=)
c.1083A= (p.Ala361=)
c.1017A= (p.Ala339=)
c.1050A= (p.Ala350=)
n.218A=
n.314A=
n.281A=
n.523A=
n.625A=
c.987A= (p.Ala329=)
c.1086A= (p.Ala362=)
c.1020A= (p.Ala340=)
c.960A= (p.Ala320=)
c.1053A= (p.Ala351=)
n.2439A=
n.2880A=
c.954A= (p.Ala318=)
c.921A= (p.Ala307=)
c.894A= (p.Ala298=)
c.861A= (p.Ala287=)
c.828A= (p.Ala276=)
4g.76112432A>CCA439955976ART3,NUP54c.1116A>C (p.Ala372=)
c.*1505T>G (n.*1505T>G)
c.984A>C (p.Ala328=)
c.1083A>C (p.Ala361=)
c.1017A>C (p.Ala339=)
c.1050A>C (p.Ala350=)
n.218A>C
n.314A>C
n.281A>C
n.523A>C
n.625A>C
c.987A>C (p.Ala329=)
c.1086A>C (p.Ala362=)
c.1020A>C (p.Ala340=)
c.960A>C (p.Ala320=)
c.1053A>C (p.Ala351=)
n.2439A>C
n.2880A>C
c.954A>C (p.Ala318=)
c.921A>C (p.Ala307=)
c.894A>C (p.Ala298=)
c.861A>C (p.Ala287=)
c.828A>C (p.Ala276=)
4g.76112432A>GCA439955979ART3,NUP54c.1116A>G (p.Ala372=)
c.*1505T>C (n.*1505T>C)
c.984A>G (p.Ala328=)
c.1083A>G (p.Ala361=)
c.1017A>G (p.Ala339=)
c.1050A>G (p.Ala350=)
n.218A>G
n.314A>G
n.281A>G
n.523A>G
n.625A>G
c.987A>G (p.Ala329=)
c.1086A>G (p.Ala362=)
c.1020A>G (p.Ala340=)
c.960A>G (p.Ala320=)
c.1053A>G (p.Ala351=)
n.2439A>G
n.2880A>G
c.954A>G (p.Ala318=)
c.921A>G (p.Ala307=)
c.894A>G (p.Ala298=)
c.861A>G (p.Ala287=)
c.828A>G (p.Ala276=)
 dbSNP
4g.76112432A>TCA439955978ART3,NUP54c.1116A>T (p.Ala372=)
c.*1505T>A (n.*1505T>A)
c.984A>T (p.Ala328=)
c.1083A>T (p.Ala361=)
c.1017A>T (p.Ala339=)
c.1050A>T (p.Ala350=)
n.218A>T
n.314A>T
n.281A>T
n.523A>T
n.625A>T
c.987A>T (p.Ala329=)
c.1086A>T (p.Ala362=)
c.1020A>T (p.Ala340=)
c.960A>T (p.Ala320=)
c.1053A>T (p.Ala351=)
n.2439A>T
n.2880A>T
c.954A>T (p.Ala318=)
c.921A>T (p.Ala307=)
c.894A>T (p.Ala298=)
c.861A>T (p.Ala287=)
c.828A>T (p.Ala276=)
4g.76112433T>ACA357317133ART3,NUP54c.1117T>A (p.Ser373Thr)
c.*1504A>T (n.*1504A>T)
c.985T>A (p.Ser329Thr)
c.1084T>A (p.Ser362Thr)
c.1018T>A (p.Ser340Thr)
c.1051T>A (p.Ser351Thr)
n.219T>A
n.315T>A
n.282T>A
n.524T>A
n.626T>A
c.988T>A (p.Ser330Thr)
c.1087T>A (p.Ser363Thr)
c.1021T>A (p.Ser341Thr)
c.961T>A (p.Ser321Thr)
c.1054T>A (p.Ser352Thr)
n.2440T>A
n.2881T>A
c.955T>A (p.Ser319Thr)
c.922T>A (p.Ser308Thr)
c.895T>A (p.Ser299Thr)
c.862T>A (p.Ser288Thr)
c.829T>A (p.Ser277Thr)
4g.76112433T>CCA357317134ART3,NUP54c.1117T>C (p.Ser373Pro)
c.*1504A>G (n.*1504A>G)
c.985T>C (p.Ser329Pro)
c.1084T>C (p.Ser362Pro)
c.1018T>C (p.Ser340Pro)
c.1051T>C (p.Ser351Pro)
n.219T>C
n.315T>C
n.282T>C
n.524T>C
n.626T>C
c.988T>C (p.Ser330Pro)
c.1087T>C (p.Ser363Pro)
c.1021T>C (p.Ser341Pro)
c.961T>C (p.Ser321Pro)
c.1054T>C (p.Ser352Pro)
n.2440T>C
n.2881T>C
c.955T>C (p.Ser319Pro)
c.922T>C (p.Ser308Pro)
c.895T>C (p.Ser299Pro)
c.862T>C (p.Ser288Pro)
c.829T>C (p.Ser277Pro)
4g.76112433T>GCA357317135ART3,NUP54c.1117T>G (p.Ser373Ala)
c.*1504A>C (n.*1504A>C)
c.985T>G (p.Ser329Ala)
c.1084T>G (p.Ser362Ala)
c.1018T>G (p.Ser340Ala)
c.1051T>G (p.Ser351Ala)
n.219T>G
n.315T>G
n.282T>G
n.524T>G
n.626T>G
c.988T>G (p.Ser330Ala)
c.1087T>G (p.Ser363Ala)
c.1021T>G (p.Ser341Ala)
c.961T>G (p.Ser321Ala)
c.1054T>G (p.Ser352Ala)
n.2440T>G
n.2881T>G
c.955T>G (p.Ser319Ala)
c.922T>G (p.Ser308Ala)
c.895T>G (p.Ser299Ala)
c.862T>G (p.Ser288Ala)
c.829T>G (p.Ser277Ala)
4g.76112434C>ACA357317136ART3,NUP54c.1118C>A (p.Ser373Tyr)
c.*1503G>T (n.*1503G>T)
c.986C>A (p.Ser329Tyr)
c.1085C>A (p.Ser362Tyr)
c.1019C>A (p.Ser340Tyr)
c.1052C>A (p.Ser351Tyr)
n.220C>A
n.316C>A
n.283C>A
n.525C>A
n.627C>A
c.989C>A (p.Ser330Tyr)
c.1088C>A (p.Ser363Tyr)
c.1022C>A (p.Ser341Tyr)
c.962C>A (p.Ser321Tyr)
c.1055C>A (p.Ser352Tyr)
n.2441C>A
n.2882C>A
c.956C>A (p.Ser319Tyr)
c.923C>A (p.Ser308Tyr)
c.896C>A (p.Ser299Tyr)
c.863C>A (p.Ser288Tyr)
c.830C>A (p.Ser277Tyr)
4g.76112434C>GCA357317137ART3,NUP54c.1118C>G (p.Ser373Cys)
c.*1503G>C (n.*1503G>C)
c.986C>G (p.Ser329Cys)
c.1085C>G (p.Ser362Cys)
c.1019C>G (p.Ser340Cys)
c.1052C>G (p.Ser351Cys)
n.220C>G
n.316C>G
n.283C>G
n.525C>G
n.627C>G
c.989C>G (p.Ser330Cys)
c.1088C>G (p.Ser363Cys)
c.1022C>G (p.Ser341Cys)
c.962C>G (p.Ser321Cys)
c.1055C>G (p.Ser352Cys)
n.2441C>G
n.2882C>G
c.956C>G (p.Ser319Cys)
c.923C>G (p.Ser308Cys)
c.896C>G (p.Ser299Cys)
c.863C>G (p.Ser288Cys)
c.830C>G (p.Ser277Cys)
4g.76112434C>TCA357317138ART3,NUP54c.1118C>T (p.Ser373Phe)
c.*1503G>A (n.*1503G>A)
c.986C>T (p.Ser329Phe)
c.1085C>T (p.Ser362Phe)
c.1019C>T (p.Ser340Phe)
c.1052C>T (p.Ser351Phe)
n.220C>T
n.316C>T
n.283C>T
n.525C>T
n.627C>T
c.989C>T (p.Ser330Phe)
c.1088C>T (p.Ser363Phe)
c.1022C>T (p.Ser341Phe)
c.962C>T (p.Ser321Phe)
c.1055C>T (p.Ser352Phe)
n.2441C>T
n.2882C>T
c.956C>T (p.Ser319Phe)
c.923C>T (p.Ser308Phe)
c.896C>T (p.Ser299Phe)
c.863C>T (p.Ser288Phe)
c.830C>T (p.Ser277Phe)
 gnomAD v4
4g.76112435C>ACA439955980ART3,NUP54c.1119C>A (p.Ser373=)
c.*1502G>T (n.*1502G>T)
c.987C>A (p.Ser329=)
c.1086C>A (p.Ser362=)
c.1020C>A (p.Ser340=)
c.1053C>A (p.Ser351=)
n.221C>A
n.317C>A
n.284C>A
n.526C>A
n.628C>A
c.990C>A (p.Ser330=)
c.1089C>A (p.Ser363=)
c.1023C>A (p.Ser341=)
c.963C>A (p.Ser321=)
c.1056C>A (p.Ser352=)
n.2442C>A
n.2883C>A
c.957C>A (p.Ser319=)
c.924C>A (p.Ser308=)
c.897C>A (p.Ser299=)
c.864C>A (p.Ser288=)
c.831C>A (p.Ser277=)
4g.76112435C=CA1469470991ART3,NUP54c.1119C= (p.Ser373=)
c.*1502G= (n.*1502G=)
c.987C= (p.Ser329=)
c.1086C= (p.Ser362=)
c.1020C= (p.Ser340=)
c.1053C= (p.Ser351=)
n.221C=
n.317C=
n.284C=
n.526C=
n.628C=
c.990C= (p.Ser330=)
c.1089C= (p.Ser363=)
c.1023C= (p.Ser341=)
c.963C= (p.Ser321=)
c.1056C= (p.Ser352=)
n.2442C=
n.2883C=
c.957C= (p.Ser319=)
c.924C= (p.Ser308=)
c.897C= (p.Ser299=)
c.864C= (p.Ser288=)
c.831C= (p.Ser277=)
4g.76112435C>GCA439955981ART3,NUP54c.1119C>G (p.Ser373=)
c.*1502G>C (n.*1502G>C)
c.987C>G (p.Ser329=)
c.1086C>G (p.Ser362=)
c.1020C>G (p.Ser340=)
c.1053C>G (p.Ser351=)
n.221C>G
n.317C>G
n.284C>G
n.526C>G
n.628C>G
c.990C>G (p.Ser330=)
c.1089C>G (p.Ser363=)
c.1023C>G (p.Ser341=)
c.963C>G (p.Ser321=)
c.1056C>G (p.Ser352=)
n.2442C>G
n.2883C>G
c.957C>G (p.Ser319=)
c.924C>G (p.Ser308=)
c.897C>G (p.Ser299=)
c.864C>G (p.Ser288=)
c.831C>G (p.Ser277=)
4g.76112435C>TCA2969583ART3,NUP54c.1119C>T (p.Ser373=)
c.*1502G>A (n.*1502G>A)
c.987C>T (p.Ser329=)
c.1086C>T (p.Ser362=)
c.1020C>T (p.Ser340=)
c.1053C>T (p.Ser351=)
n.221C>T
n.317C>T
n.284C>T
n.526C>T
n.628C>T
c.990C>T (p.Ser330=)
c.1089C>T (p.Ser363=)
c.1023C>T (p.Ser341=)
c.963C>T (p.Ser321=)
c.1056C>T (p.Ser352=)
n.2442C>T
n.2883C>T
c.957C>T (p.Ser319=)
c.924C>T (p.Ser308=)
c.897C>T (p.Ser299=)
c.864C>T (p.Ser288=)
c.831C>T (p.Ser277=)
 dbSNP ExAC gnomAD v2
4g.76112436T>ACA357317139ART3,NUP54c.1120T>A (p.Ser374Thr)
c.*1501A>T (n.*1501A>T)
c.988T>A (p.Ser330Thr)
c.1087T>A (p.Ser363Thr)
c.1021T>A (p.Ser341Thr)
c.1054T>A (p.Ser352Thr)
n.222T>A
n.318T>A
n.285T>A
n.527T>A
n.629T>A
c.991T>A (p.Ser331Thr)
c.1090T>A (p.Ser364Thr)
c.1024T>A (p.Ser342Thr)
c.964T>A (p.Ser322Thr)
c.1057T>A (p.Ser353Thr)
n.2443T>A
n.2884T>A
c.958T>A (p.Ser320Thr)
c.925T>A (p.Ser309Thr)
c.898T>A (p.Ser300Thr)
c.865T>A (p.Ser289Thr)
c.832T>A (p.Ser278Thr)
4g.76112436T>CCA357317140ART3,NUP54c.1120T>C (p.Ser374Pro)
c.*1501A>G (n.*1501A>G)
c.988T>C (p.Ser330Pro)
c.1087T>C (p.Ser363Pro)
c.1021T>C (p.Ser341Pro)
c.1054T>C (p.Ser352Pro)
n.222T>C
n.318T>C
n.285T>C
n.527T>C
n.629T>C
c.991T>C (p.Ser331Pro)
c.1090T>C (p.Ser364Pro)
c.1024T>C (p.Ser342Pro)
c.964T>C (p.Ser322Pro)
c.1057T>C (p.Ser353Pro)
n.2443T>C
n.2884T>C
c.958T>C (p.Ser320Pro)
c.925T>C (p.Ser309Pro)
c.898T>C (p.Ser300Pro)
c.865T>C (p.Ser289Pro)
c.832T>C (p.Ser278Pro)
4g.76112436T>GCA357317141ART3,NUP54c.1120T>G (p.Ser374Ala)
c.*1501A>C (n.*1501A>C)
c.988T>G (p.Ser330Ala)
c.1087T>G (p.Ser363Ala)
c.1021T>G (p.Ser341Ala)
c.1054T>G (p.Ser352Ala)
n.222T>G
n.318T>G
n.285T>G
n.527T>G
n.629T>G
c.991T>G (p.Ser331Ala)
c.1090T>G (p.Ser364Ala)
c.1024T>G (p.Ser342Ala)
c.964T>G (p.Ser322Ala)
c.1057T>G (p.Ser353Ala)
n.2443T>G
n.2884T>G
c.958T>G (p.Ser320Ala)
c.925T>G (p.Ser309Ala)
c.898T>G (p.Ser300Ala)
c.865T>G (p.Ser289Ala)
c.832T>G (p.Ser278Ala)
4g.76112437C>ACA357317142ART3,NUP54c.1121C>A (p.Ser374Ter)
c.*1500G>T (n.*1500G>T)
c.989C>A (p.Ser330Ter)
c.1088C>A (p.Ser363Ter)
c.1022C>A (p.Ser341Ter)
c.1055C>A (p.Ser352Ter)
n.223C>A
n.319C>A
n.286C>A
n.528C>A
n.630C>A
c.992C>A (p.Ser331Ter)
c.1091C>A (p.Ser364Ter)
c.1025C>A (p.Ser342Ter)
c.965C>A (p.Ser322Ter)
c.1058C>A (p.Ser353Ter)
n.2444C>A
n.2885C>A
c.959C>A (p.Ser320Ter)
c.926C>A (p.Ser309Ter)
c.899C>A (p.Ser300Ter)
c.866C>A (p.Ser289Ter)
c.833C>A (p.Ser278Ter)
 dbSNP
4g.76112437C=CA1469470995ART3,NUP54c.1121C= (p.Ser374=)
c.*1500G= (n.*1500G=)
c.989C= (p.Ser330=)
c.1088C= (p.Ser363=)
c.1022C= (p.Ser341=)
c.1055C= (p.Ser352=)
n.223C=
n.319C=
n.286C=
n.528C=
n.630C=
c.992C= (p.Ser331=)
c.1091C= (p.Ser364=)
c.1025C= (p.Ser342=)
c.965C= (p.Ser322=)
c.1058C= (p.Ser353=)
n.2444C=
n.2885C=
c.959C= (p.Ser320=)
c.926C= (p.Ser309=)
c.899C= (p.Ser300=)
c.866C= (p.Ser289=)
c.833C= (p.Ser278=)
4g.76112437C>GCA2969585ART3,NUP54c.1121C>G (p.Ser374Trp)
c.*1500G>C (n.*1500G>C)
c.989C>G (p.Ser330Trp)
c.1088C>G (p.Ser363Trp)
c.1022C>G (p.Ser341Trp)
c.1055C>G (p.Ser352Trp)
n.223C>G
n.319C>G
n.286C>G
n.528C>G
n.630C>G
c.992C>G (p.Ser331Trp)
c.1091C>G (p.Ser364Trp)
c.1025C>G (p.Ser342Trp)
c.965C>G (p.Ser322Trp)
c.1058C>G (p.Ser353Trp)
n.2444C>G
n.2885C>G
c.959C>G (p.Ser320Trp)
c.926C>G (p.Ser309Trp)
c.899C>G (p.Ser300Trp)
c.866C>G (p.Ser289Trp)
c.833C>G (p.Ser278Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.76112437C>TCA2969584ART3,NUP54c.1121C>T (p.Ser374Leu)
c.*1500G>A (n.*1500G>A)
c.989C>T (p.Ser330Leu)
c.1088C>T (p.Ser363Leu)
c.1022C>T (p.Ser341Leu)
c.1055C>T (p.Ser352Leu)
n.223C>T
n.319C>T
n.286C>T
n.528C>T
n.630C>T
c.992C>T (p.Ser331Leu)
c.1091C>T (p.Ser364Leu)
c.1025C>T (p.Ser342Leu)
c.965C>T (p.Ser322Leu)
c.1058C>T (p.Ser353Leu)
n.2444C>T
n.2885C>T
c.959C>T (p.Ser320Leu)
c.926C>T (p.Ser309Leu)
c.899C>T (p.Ser300Leu)
c.866C>T (p.Ser289Leu)
c.833C>T (p.Ser278Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112438G>ACA2969586ART3,NUP54c.1122G>A (p.Ser374=)
c.*1499C>T (n.*1499C>T)
c.990G>A (p.Ser330=)
c.1089G>A (p.Ser363=)
c.1023G>A (p.Ser341=)
c.1056G>A (p.Ser352=)
n.224G>A
n.320G>A
n.287G>A
n.529G>A
n.631G>A
c.993G>A (p.Ser331=)
c.1092G>A (p.Ser364=)
c.1026G>A (p.Ser342=)
c.966G>A (p.Ser322=)
c.1059G>A (p.Ser353=)
n.2445G>A
n.2886G>A
c.960G>A (p.Ser320=)
c.927G>A (p.Ser309=)
c.900G>A (p.Ser300=)
c.867G>A (p.Ser289=)
c.834G>A (p.Ser278=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112438G>CCA439955984ART3,NUP54c.1122G>C (p.Ser374=)
c.*1499C>G (n.*1499C>G)
c.990G>C (p.Ser330=)
c.1089G>C (p.Ser363=)
c.1023G>C (p.Ser341=)
c.1056G>C (p.Ser352=)
n.224G>C
n.320G>C
n.287G>C
n.529G>C
n.631G>C
c.993G>C (p.Ser331=)
c.1092G>C (p.Ser364=)
c.1026G>C (p.Ser342=)
c.966G>C (p.Ser322=)
c.1059G>C (p.Ser353=)
n.2445G>C
n.2886G>C
c.960G>C (p.Ser320=)
c.927G>C (p.Ser309=)
c.900G>C (p.Ser300=)
c.867G>C (p.Ser289=)
c.834G>C (p.Ser278=)
4g.76112438G=CA1469471000ART3,NUP54c.1122G= (p.Ser374=)
c.*1499C= (n.*1499C=)
c.990G= (p.Ser330=)
c.1089G= (p.Ser363=)
c.1023G= (p.Ser341=)
c.1056G= (p.Ser352=)
n.224G=
n.320G=
n.287G=
n.529G=
n.631G=
c.993G= (p.Ser331=)
c.1092G= (p.Ser364=)
c.1026G= (p.Ser342=)
c.966G= (p.Ser322=)
c.1059G= (p.Ser353=)
n.2445G=
n.2886G=
c.960G= (p.Ser320=)
c.927G= (p.Ser309=)
c.900G= (p.Ser300=)
c.867G= (p.Ser289=)
c.834G= (p.Ser278=)
4g.76112438G>TCA439955986ART3,NUP54c.1122G>T (p.Ser374=)
c.*1499C>A (n.*1499C>A)
c.990G>T (p.Ser330=)
c.1089G>T (p.Ser363=)
c.1023G>T (p.Ser341=)
c.1056G>T (p.Ser352=)
n.224G>T
n.320G>T
n.287G>T
n.529G>T
n.631G>T
c.993G>T (p.Ser331=)
c.1092G>T (p.Ser364=)
c.1026G>T (p.Ser342=)
c.966G>T (p.Ser322=)
c.1059G>T (p.Ser353=)
n.2445G>T
n.2886G>T
c.960G>T (p.Ser320=)
c.927G>T (p.Ser309=)
c.900G>T (p.Ser300=)
c.867G>T (p.Ser289=)
c.834G>T (p.Ser278=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.76112439G>ACA357317143ART3,NUP54c.1123G>A (p.Gly375Ser)
c.*1498C>T (n.*1498C>T)
c.991G>A (p.Gly331Ser)
c.1090G>A (p.Gly364Ser)
c.1024G>A (p.Gly342Ser)
c.1057G>A (p.Gly353Ser)
n.225G>A
n.321G>A
n.288G>A
n.530G>A
n.632G>A
c.994G>A (p.Gly332Ser)
c.1093G>A (p.Gly365Ser)
c.1027G>A (p.Gly343Ser)
c.967G>A (p.Gly323Ser)
c.1060G>A (p.Gly354Ser)
n.2446G>A
n.2887G>A
c.961G>A (p.Gly321Ser)
c.928G>A (p.Gly310Ser)
c.901G>A (p.Gly301Ser)
c.868G>A (p.Gly290Ser)
c.835G>A (p.Gly279Ser)
 COSMIC COSMIC
4g.76112439G>CCA357317144ART3,NUP54c.1123G>C (p.Gly375Arg)
c.*1498C>G (n.*1498C>G)
c.991G>C (p.Gly331Arg)
c.1090G>C (p.Gly364Arg)
c.1024G>C (p.Gly342Arg)
c.1057G>C (p.Gly353Arg)
n.225G>C
n.321G>C
n.288G>C
n.530G>C
n.632G>C
c.994G>C (p.Gly332Arg)
c.1093G>C (p.Gly365Arg)
c.1027G>C (p.Gly343Arg)
c.967G>C (p.Gly323Arg)
c.1060G>C (p.Gly354Arg)
n.2446G>C
n.2887G>C
c.961G>C (p.Gly321Arg)
c.928G>C (p.Gly310Arg)
c.901G>C (p.Gly301Arg)
c.868G>C (p.Gly290Arg)
c.835G>C (p.Gly279Arg)
4g.76112439G>TCA357317145ART3,NUP54c.1123G>T (p.Gly375Cys)
c.*1498C>A (n.*1498C>A)
c.991G>T (p.Gly331Cys)
c.1090G>T (p.Gly364Cys)
c.1024G>T (p.Gly342Cys)
c.1057G>T (p.Gly353Cys)
n.225G>T
n.321G>T
n.288G>T
n.530G>T
n.632G>T
c.994G>T (p.Gly332Cys)
c.1093G>T (p.Gly365Cys)
c.1027G>T (p.Gly343Cys)
c.967G>T (p.Gly323Cys)
c.1060G>T (p.Gly354Cys)
n.2446G>T
n.2887G>T
c.961G>T (p.Gly321Cys)
c.928G>T (p.Gly310Cys)
c.901G>T (p.Gly301Cys)
c.868G>T (p.Gly290Cys)
c.835G>T (p.Gly279Cys)
4g.76112440G>ACA357317146ART3,NUP54c.1124G>A (p.Gly375Asp)
c.*1497C>T (n.*1497C>T)
c.992G>A (p.Gly331Asp)
c.1091G>A (p.Gly364Asp)
c.1025G>A (p.Gly342Asp)
c.1058G>A (p.Gly353Asp)
n.226G>A
n.322G>A
n.289G>A
n.531G>A
n.633G>A
c.995G>A (p.Gly332Asp)
c.1094G>A (p.Gly365Asp)
c.1028G>A (p.Gly343Asp)
c.968G>A (p.Gly323Asp)
c.1061G>A (p.Gly354Asp)
n.2447G>A
n.2888G>A
c.962G>A (p.Gly321Asp)
c.929G>A (p.Gly310Asp)
c.902G>A (p.Gly301Asp)
c.869G>A (p.Gly290Asp)
c.836G>A (p.Gly279Asp)
 gnomAD v4
4g.76112440G>CCA357317147ART3,NUP54c.1124G>C (p.Gly375Ala)
c.*1497C>G (n.*1497C>G)
c.992G>C (p.Gly331Ala)
c.1091G>C (p.Gly364Ala)
c.1025G>C (p.Gly342Ala)
c.1058G>C (p.Gly353Ala)
n.226G>C
n.322G>C
n.289G>C
n.531G>C
n.633G>C
c.995G>C (p.Gly332Ala)
c.1094G>C (p.Gly365Ala)
c.1028G>C (p.Gly343Ala)
c.968G>C (p.Gly323Ala)
c.1061G>C (p.Gly354Ala)
n.2447G>C
n.2888G>C
c.962G>C (p.Gly321Ala)
c.929G>C (p.Gly310Ala)
c.902G>C (p.Gly301Ala)
c.869G>C (p.Gly290Ala)
c.836G>C (p.Gly279Ala)
4g.76112440G>TCA357317148ART3,NUP54c.1124G>T (p.Gly375Val)
c.*1497C>A (n.*1497C>A)
c.992G>T (p.Gly331Val)
c.1091G>T (p.Gly364Val)
c.1025G>T (p.Gly342Val)
c.1058G>T (p.Gly353Val)
n.226G>T
n.322G>T
n.289G>T
n.531G>T
n.633G>T
c.995G>T (p.Gly332Val)
c.1094G>T (p.Gly365Val)
c.1028G>T (p.Gly343Val)
c.968G>T (p.Gly323Val)
c.1061G>T (p.Gly354Val)
n.2447G>T
n.2888G>T
c.962G>T (p.Gly321Val)
c.929G>T (p.Gly310Val)
c.902G>T (p.Gly301Val)
c.869G>T (p.Gly290Val)
c.836G>T (p.Gly279Val)
4g.76112441C>ACA439955987ART3,NUP54c.1125C>A (p.Gly375=)
c.*1496G>T (n.*1496G>T)
c.993C>A (p.Gly331=)
c.1092C>A (p.Gly364=)
c.1026C>A (p.Gly342=)
c.1059C>A (p.Gly353=)
n.227C>A
n.323C>A
n.290C>A
n.532C>A
n.634C>A
c.996C>A (p.Gly332=)
c.1095C>A (p.Gly365=)
c.1029C>A (p.Gly343=)
c.969C>A (p.Gly323=)
c.1062C>A (p.Gly354=)
n.2448C>A
n.2889C>A
c.963C>A (p.Gly321=)
c.930C>A (p.Gly310=)
c.903C>A (p.Gly301=)
c.870C>A (p.Gly290=)
c.837C>A (p.Gly279=)
4g.76112441C>GCA439955988ART3,NUP54c.1125C>G (p.Gly375=)
c.*1496G>C (n.*1496G>C)
c.993C>G (p.Gly331=)
c.1092C>G (p.Gly364=)
c.1026C>G (p.Gly342=)
c.1059C>G (p.Gly353=)
n.227C>G
n.323C>G
n.290C>G
n.532C>G
n.634C>G
c.996C>G (p.Gly332=)
c.1095C>G (p.Gly365=)
c.1029C>G (p.Gly343=)
c.969C>G (p.Gly323=)
c.1062C>G (p.Gly354=)
n.2448C>G
n.2889C>G
c.963C>G (p.Gly321=)
c.930C>G (p.Gly310=)
c.903C>G (p.Gly301=)
c.870C>G (p.Gly290=)
c.837C>G (p.Gly279=)
4g.76112441C>TCA439955989ART3,NUP54c.1125C>T (p.Gly375=)
c.*1496G>A (n.*1496G>A)
c.993C>T (p.Gly331=)
c.1092C>T (p.Gly364=)
c.1026C>T (p.Gly342=)
c.1059C>T (p.Gly353=)
n.227C>T
n.323C>T
n.290C>T
n.532C>T
n.634C>T
c.996C>T (p.Gly332=)
c.1095C>T (p.Gly365=)
c.1029C>T (p.Gly343=)
c.969C>T (p.Gly323=)
c.1062C>T (p.Gly354=)
n.2448C>T
n.2889C>T
c.963C>T (p.Gly321=)
c.930C>T (p.Gly310=)
c.903C>T (p.Gly301=)
c.870C>T (p.Gly290=)
c.837C>T (p.Gly279=)
4g.76112442A>CCA357317151ART3,NUP54c.1126A>C (p.Lys376Gln)
c.*1495T>G (n.*1495T>G)
c.994A>C (p.Lys332Gln)
c.1093A>C (p.Lys365Gln)
c.1027A>C (p.Lys343Gln)
c.1060A>C (p.Lys354Gln)
n.228A>C
n.324A>C
n.291A>C
n.533A>C
n.635A>C
c.997A>C (p.Lys333Gln)
c.1096A>C (p.Lys366Gln)
c.1030A>C (p.Lys344Gln)
c.970A>C (p.Lys324Gln)
c.1063A>C (p.Lys355Gln)
n.2449A>C
n.2890A>C
c.964A>C (p.Lys322Gln)
c.931A>C (p.Lys311Gln)
c.904A>C (p.Lys302Gln)
c.871A>C (p.Lys291Gln)
c.838A>C (p.Lys280Gln)
4g.76112442A>GCA357317150ART3,NUP54c.1126A>G (p.Lys376Glu)
c.*1495T>C (n.*1495T>C)
c.994A>G (p.Lys332Glu)
c.1093A>G (p.Lys365Glu)
c.1027A>G (p.Lys343Glu)
c.1060A>G (p.Lys354Glu)
n.228A>G
n.324A>G
n.291A>G
n.533A>G
n.635A>G
c.997A>G (p.Lys333Glu)
c.1096A>G (p.Lys366Glu)
c.1030A>G (p.Lys344Glu)
c.970A>G (p.Lys324Glu)
c.1063A>G (p.Lys355Glu)
n.2449A>G
n.2890A>G
c.964A>G (p.Lys322Glu)
c.931A>G (p.Lys311Glu)
c.904A>G (p.Lys302Glu)
c.871A>G (p.Lys291Glu)
c.838A>G (p.Lys280Glu)
4g.76112442A>TCA357317149ART3,NUP54c.1126A>T (p.Lys376Ter)
c.*1495T>A (n.*1495T>A)
c.994A>T (p.Lys332Ter)
c.1093A>T (p.Lys365Ter)
c.1027A>T (p.Lys343Ter)
c.1060A>T (p.Lys354Ter)
n.228A>T
n.324A>T
n.291A>T
n.533A>T
n.635A>T
c.997A>T (p.Lys333Ter)
c.1096A>T (p.Lys366Ter)
c.1030A>T (p.Lys344Ter)
c.970A>T (p.Lys324Ter)
c.1063A>T (p.Lys355Ter)
n.2449A>T
n.2890A>T
c.964A>T (p.Lys322Ter)
c.931A>T (p.Lys311Ter)
c.904A>T (p.Lys302Ter)
c.871A>T (p.Lys291Ter)
c.838A>T (p.Lys280Ter)
4g.76112443A>CCA357317152ART3,NUP54c.1127A>C (p.Lys376Thr)
c.*1494T>G (n.*1494T>G)
c.995A>C (p.Lys332Thr)
c.1094A>C (p.Lys365Thr)
c.1028A>C (p.Lys343Thr)
c.1061A>C (p.Lys354Thr)
n.229A>C
n.325A>C
n.292A>C
n.534A>C
n.636A>C
c.998A>C (p.Lys333Thr)
c.1097A>C (p.Lys366Thr)
c.1031A>C (p.Lys344Thr)
c.971A>C (p.Lys324Thr)
c.1064A>C (p.Lys355Thr)
n.2450A>C
n.2891A>C
c.965A>C (p.Lys322Thr)
c.932A>C (p.Lys311Thr)
c.905A>C (p.Lys302Thr)
c.872A>C (p.Lys291Thr)
c.839A>C (p.Lys280Thr)
4g.76112443A>GCA357317154ART3,NUP54c.1127A>G (p.Lys376Arg)
c.*1494T>C (n.*1494T>C)
c.995A>G (p.Lys332Arg)
c.1094A>G (p.Lys365Arg)
c.1028A>G (p.Lys343Arg)
c.1061A>G (p.Lys354Arg)
n.229A>G
n.325A>G
n.292A>G
n.534A>G
n.636A>G
c.998A>G (p.Lys333Arg)
c.1097A>G (p.Lys366Arg)
c.1031A>G (p.Lys344Arg)
c.971A>G (p.Lys324Arg)
c.1064A>G (p.Lys355Arg)
n.2450A>G
n.2891A>G
c.965A>G (p.Lys322Arg)
c.932A>G (p.Lys311Arg)
c.905A>G (p.Lys302Arg)
c.872A>G (p.Lys291Arg)
c.839A>G (p.Lys280Arg)
4g.76112443A>TCA357317153ART3,NUP54c.1127A>T (p.Lys376Ile)
c.*1494T>A (n.*1494T>A)
c.995A>T (p.Lys332Ile)
c.1094A>T (p.Lys365Ile)
c.1028A>T (p.Lys343Ile)
c.1061A>T (p.Lys354Ile)
n.229A>T
n.325A>T
n.292A>T
n.534A>T
n.636A>T
c.998A>T (p.Lys333Ile)
c.1097A>T (p.Lys366Ile)
c.1031A>T (p.Lys344Ile)
c.971A>T (p.Lys324Ile)
c.1064A>T (p.Lys355Ile)
n.2450A>T
n.2891A>T
c.965A>T (p.Lys322Ile)
c.932A>T (p.Lys311Ile)
c.905A>T (p.Lys302Ile)
c.872A>T (p.Lys291Ile)
c.839A>T (p.Lys280Ile)
4g.76112444A=CA1469471004ART3,NUP54c.1128A= (p.Lys376=)
c.*1493T= (n.*1493T=)
c.996A= (p.Lys332=)
c.1095A= (p.Lys365=)
c.1029A= (p.Lys343=)
c.1062A= (p.Lys354=)
n.230A=
n.326A=
n.293A=
n.535A=
n.637A=
c.999A= (p.Lys333=)
c.1098A= (p.Lys366=)
c.1032A= (p.Lys344=)
c.972A= (p.Lys324=)
c.1065A= (p.Lys355=)
n.2451A=
n.2892A=
c.966A= (p.Lys322=)
c.933A= (p.Lys311=)
c.906A= (p.Lys302=)
c.873A= (p.Lys291=)
c.840A= (p.Lys280=)
4g.76112444A>CCA357317155ART3,NUP54c.1128A>C (p.Lys376Asn)
c.*1493T>G (n.*1493T>G)
c.996A>C (p.Lys332Asn)
c.1095A>C (p.Lys365Asn)
c.1029A>C (p.Lys343Asn)
c.1062A>C (p.Lys354Asn)
n.230A>C
n.326A>C
n.293A>C
n.535A>C
n.637A>C
c.999A>C (p.Lys333Asn)
c.1098A>C (p.Lys366Asn)
c.1032A>C (p.Lys344Asn)
c.972A>C (p.Lys324Asn)
c.1065A>C (p.Lys355Asn)
n.2451A>C
n.2892A>C
c.966A>C (p.Lys322Asn)
c.933A>C (p.Lys311Asn)
c.906A>C (p.Lys302Asn)
c.873A>C (p.Lys291Asn)
c.840A>C (p.Lys280Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.76112444A>GCA439955993ART3,NUP54c.1128A>G (p.Lys376=)
c.*1493T>C (n.*1493T>C)
c.996A>G (p.Lys332=)
c.1095A>G (p.Lys365=)
c.1029A>G (p.Lys343=)
c.1062A>G (p.Lys354=)
n.230A>G
n.326A>G
n.293A>G
n.535A>G
n.637A>G
c.999A>G (p.Lys333=)
c.1098A>G (p.Lys366=)
c.1032A>G (p.Lys344=)
c.972A>G (p.Lys324=)
c.1065A>G (p.Lys355=)
n.2451A>G
n.2892A>G
c.966A>G (p.Lys322=)
c.933A>G (p.Lys311=)
c.906A>G (p.Lys302=)
c.873A>G (p.Lys291=)
c.840A>G (p.Lys280=)
4g.76112444A>TCA357317156ART3,NUP54c.1128A>T (p.Lys376Asn)
c.*1493T>A (n.*1493T>A)
c.996A>T (p.Lys332Asn)
c.1095A>T (p.Lys365Asn)
c.1029A>T (p.Lys343Asn)
c.1062A>T (p.Lys354Asn)
n.230A>T
n.326A>T
n.293A>T
n.535A>T
n.637A>T
c.999A>T (p.Lys333Asn)
c.1098A>T (p.Lys366Asn)
c.1032A>T (p.Lys344Asn)
c.972A>T (p.Lys324Asn)
c.1065A>T (p.Lys355Asn)
n.2451A>T
n.2892A>T
c.966A>T (p.Lys322Asn)
c.933A>T (p.Lys311Asn)
c.906A>T (p.Lys302Asn)
c.873A>T (p.Lys291Asn)
c.840A>T (p.Lys280Asn)
4g.76112445C>ACA357317157ART3,NUP54c.1129C>A (p.Leu377Met)
c.*1492G>T (n.*1492G>T)
c.997C>A (p.Leu333Met)
c.1096C>A (p.Leu366Met)
c.1030C>A (p.Leu344Met)
c.1063C>A (p.Leu355Met)
n.231C>A
n.327C>A
n.294C>A
n.536C>A
n.638C>A
c.1000C>A (p.Leu334Met)
c.1099C>A (p.Leu367Met)
c.1033C>A (p.Leu345Met)
c.973C>A (p.Leu325Met)
c.1066C>A (p.Leu356Met)
n.2452C>A
n.2893C>A
c.967C>A (p.Leu323Met)
c.934C>A (p.Leu312Met)
c.907C>A (p.Leu303Met)
c.874C>A (p.Leu292Met)
c.841C>A (p.Leu281Met)
4g.76112445C=CA1469471008ART3,NUP54c.1129C= (p.Leu377=)
c.*1492G= (n.*1492G=)
c.997C= (p.Leu333=)
c.1096C= (p.Leu366=)
c.1030C= (p.Leu344=)
c.1063C= (p.Leu355=)
n.231C=
n.327C=
n.294C=
n.536C=
n.638C=
c.1000C= (p.Leu334=)
c.1099C= (p.Leu367=)
c.1033C= (p.Leu345=)
c.973C= (p.Leu325=)
c.1066C= (p.Leu356=)
n.2452C=
n.2893C=
c.967C= (p.Leu323=)
c.934C= (p.Leu312=)
c.907C= (p.Leu303=)
c.874C= (p.Leu292=)
c.841C= (p.Leu281=)
4g.76112445C>GCA357317158ART3,NUP54c.1129C>G (p.Leu377Val)
c.*1492G>C (n.*1492G>C)
c.997C>G (p.Leu333Val)
c.1096C>G (p.Leu366Val)
c.1030C>G (p.Leu344Val)
c.1063C>G (p.Leu355Val)
n.231C>G
n.327C>G
n.294C>G
n.536C>G
n.638C>G
c.1000C>G (p.Leu334Val)
c.1099C>G (p.Leu367Val)
c.1033C>G (p.Leu345Val)
c.973C>G (p.Leu325Val)
c.1066C>G (p.Leu356Val)
n.2452C>G
n.2893C>G
c.967C>G (p.Leu323Val)
c.934C>G (p.Leu312Val)
c.907C>G (p.Leu303Val)
c.874C>G (p.Leu292Val)
c.841C>G (p.Leu281Val)
4g.76112445C>TCA99882513ART3,NUP54c.1129C>T (p.Leu377=)
c.*1492G>A (n.*1492G>A)
c.997C>T (p.Leu333=)
c.1096C>T (p.Leu366=)
c.1030C>T (p.Leu344=)
c.1063C>T (p.Leu355=)
n.231C>T
n.327C>T
n.294C>T
n.536C>T
n.638C>T
c.1000C>T (p.Leu334=)
c.1099C>T (p.Leu367=)
c.1033C>T (p.Leu345=)
c.973C>T (p.Leu325=)
c.1066C>T (p.Leu356=)
n.2452C>T
n.2893C>T
c.967C>T (p.Leu323=)
c.934C>T (p.Leu312=)
c.907C>T (p.Leu303=)
c.874C>T (p.Leu292=)
c.841C>T (p.Leu281=)
 dbSNP gnomAD v2 gnomAD v4
4g.76112446T>ACA357317159ART3,NUP54c.1130T>A (p.Leu377Gln)
c.*1491A>T (n.*1491A>T)
c.998T>A (p.Leu333Gln)
c.1097T>A (p.Leu366Gln)
c.1031T>A (p.Leu344Gln)
c.1064T>A (p.Leu355Gln)
n.232T>A
n.328T>A
n.295T>A
n.537T>A
n.639T>A
c.1001T>A (p.Leu334Gln)
c.1100T>A (p.Leu367Gln)
c.1034T>A (p.Leu345Gln)
c.974T>A (p.Leu325Gln)
c.1067T>A (p.Leu356Gln)
n.2453T>A
n.2894T>A
c.968T>A (p.Leu323Gln)
c.935T>A (p.Leu312Gln)
c.908T>A (p.Leu303Gln)
c.875T>A (p.Leu292Gln)
c.842T>A (p.Leu281Gln)
4g.76112446T>CCA357317160ART3,NUP54c.1130T>C (p.Leu377Pro)
c.*1491A>G (n.*1491A>G)
c.998T>C (p.Leu333Pro)
c.1097T>C (p.Leu366Pro)
c.1031T>C (p.Leu344Pro)
c.1064T>C (p.Leu355Pro)
n.232T>C
n.328T>C
n.295T>C
n.537T>C
n.639T>C
c.1001T>C (p.Leu334Pro)
c.1100T>C (p.Leu367Pro)
c.1034T>C (p.Leu345Pro)
c.974T>C (p.Leu325Pro)
c.1067T>C (p.Leu356Pro)
n.2453T>C
n.2894T>C
c.968T>C (p.Leu323Pro)
c.935T>C (p.Leu312Pro)
c.908T>C (p.Leu303Pro)
c.875T>C (p.Leu292Pro)
c.842T>C (p.Leu281Pro)
4g.76112446T>GCA357317161ART3,NUP54c.1130T>G (p.Leu377Arg)
c.*1491A>C (n.*1491A>C)
c.998T>G (p.Leu333Arg)
c.1097T>G (p.Leu366Arg)
c.1031T>G (p.Leu344Arg)
c.1064T>G (p.Leu355Arg)
n.232T>G
n.328T>G
n.295T>G
n.537T>G
n.639T>G
c.1001T>G (p.Leu334Arg)
c.1100T>G (p.Leu367Arg)
c.1034T>G (p.Leu345Arg)
c.974T>G (p.Leu325Arg)
c.1067T>G (p.Leu356Arg)
n.2453T>G
n.2894T>G
c.968T>G (p.Leu323Arg)
c.935T>G (p.Leu312Arg)
c.908T>G (p.Leu303Arg)
c.875T>G (p.Leu292Arg)
c.842T>G (p.Leu281Arg)
4g.76112447G>ACA439955996ART3,NUP54c.1131G>A (p.Leu377=)
c.*1490C>T (n.*1490C>T)
c.999G>A (p.Leu333=)
c.1098G>A (p.Leu366=)
c.1032G>A (p.Leu344=)
c.1065G>A (p.Leu355=)
n.233G>A
n.329G>A
n.296G>A
n.538G>A
n.640G>A
c.1002G>A (p.Leu334=)
c.1101G>A (p.Leu367=)
c.1035G>A (p.Leu345=)
c.975G>A (p.Leu325=)
c.1068G>A (p.Leu356=)
n.2454G>A
n.2895G>A
c.969G>A (p.Leu323=)
c.936G>A (p.Leu312=)
c.909G>A (p.Leu303=)
c.876G>A (p.Leu292=)
c.843G>A (p.Leu281=)
4g.76112447G>CCA439955997ART3,NUP54c.1131G>C (p.Leu377=)
c.*1490C>G (n.*1490C>G)
c.999G>C (p.Leu333=)
c.1098G>C (p.Leu366=)
c.1032G>C (p.Leu344=)
c.1065G>C (p.Leu355=)
n.233G>C
n.329G>C
n.296G>C
n.538G>C
n.640G>C
c.1002G>C (p.Leu334=)
c.1101G>C (p.Leu367=)
c.1035G>C (p.Leu345=)
c.975G>C (p.Leu325=)
c.1068G>C (p.Leu356=)
n.2454G>C
n.2895G>C
c.969G>C (p.Leu323=)
c.936G>C (p.Leu312=)
c.909G>C (p.Leu303=)
c.876G>C (p.Leu292=)
c.843G>C (p.Leu281=)
4g.76112447G>TCA439955998ART3,NUP54c.1131G>T (p.Leu377=)
c.*1490C>A (n.*1490C>A)
c.999G>T (p.Leu333=)
c.1098G>T (p.Leu366=)
c.1032G>T (p.Leu344=)
c.1065G>T (p.Leu355=)
n.233G>T
n.329G>T
n.296G>T
n.538G>T
n.640G>T
c.1002G>T (p.Leu334=)
c.1101G>T (p.Leu367=)
c.1035G>T (p.Leu345=)
c.975G>T (p.Leu325=)
c.1068G>T (p.Leu356=)
n.2454G>T
n.2895G>T
c.969G>T (p.Leu323=)
c.936G>T (p.Leu312=)
c.909G>T (p.Leu303=)
c.876G>T (p.Leu292=)
c.843G>T (p.Leu281=)
4g.76112448C>ACA2969587ART3,NUP54c.1132C>A (p.Leu378Met)
c.*1489G>T (n.*1489G>T)
c.1000C>A (p.Leu334Met)
c.1099C>A (p.Leu367Met)
c.1033C>A (p.Leu345Met)
c.1066C>A (p.Leu356Met)
n.234C>A
n.330C>A
n.297C>A
n.539C>A
n.641C>A
c.1003C>A (p.Leu335Met)
c.1102C>A (p.Leu368Met)
c.1036C>A (p.Leu346Met)
c.976C>A (p.Leu326Met)
c.1069C>A (p.Leu357Met)
n.2455C>A
n.2896C>A
c.970C>A (p.Leu324Met)
c.937C>A (p.Leu313Met)
c.910C>A (p.Leu304Met)
c.877C>A (p.Leu293Met)
c.844C>A (p.Leu282Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.76112448C=CA1469471012ART3,NUP54c.1132C= (p.Leu378=)
c.*1489G= (n.*1489G=)
c.1000C= (p.Leu334=)
c.1099C= (p.Leu367=)
c.1033C= (p.Leu345=)
c.1066C= (p.Leu356=)
n.234C=
n.330C=
n.297C=
n.539C=
n.641C=
c.1003C= (p.Leu335=)
c.1102C= (p.Leu368=)
c.1036C= (p.Leu346=)
c.976C= (p.Leu326=)
c.1069C= (p.Leu357=)
n.2455C=
n.2896C=
c.970C= (p.Leu324=)
c.937C= (p.Leu313=)
c.910C= (p.Leu304=)
c.877C= (p.Leu293=)
c.844C= (p.Leu282=)
4g.76112448C>GCA357317162ART3,NUP54c.1132C>G (p.Leu378Val)
c.*1489G>C (n.*1489G>C)
c.1000C>G (p.Leu334Val)
c.1099C>G (p.Leu367Val)
c.1033C>G (p.Leu345Val)
c.1066C>G (p.Leu356Val)
n.234C>G
n.330C>G
n.297C>G
n.539C>G
n.641C>G
c.1003C>G (p.Leu335Val)
c.1102C>G (p.Leu368Val)
c.1036C>G (p.Leu346Val)
c.976C>G (p.Leu326Val)
c.1069C>G (p.Leu357Val)
n.2455C>G
n.2896C>G
c.970C>G (p.Leu324Val)
c.937C>G (p.Leu313Val)
c.910C>G (p.Leu304Val)
c.877C>G (p.Leu293Val)
c.844C>G (p.Leu282Val)
4g.76112448C>TCA439956001ART3,NUP54c.1132C>T (p.Leu378=)
c.*1489G>A (n.*1489G>A)
c.1000C>T (p.Leu334=)
c.1099C>T (p.Leu367=)
c.1033C>T (p.Leu345=)
c.1066C>T (p.Leu356=)
n.234C>T
n.330C>T
n.297C>T
n.539C>T
n.641C>T
c.1003C>T (p.Leu335=)
c.1102C>T (p.Leu368=)
c.1036C>T (p.Leu346=)
c.976C>T (p.Leu326=)
c.1069C>T (p.Leu357=)
n.2455C>T
n.2896C>T
c.970C>T (p.Leu324=)
c.937C>T (p.Leu313=)
c.910C>T (p.Leu304=)
c.877C>T (p.Leu293=)
c.844C>T (p.Leu282=)
4g.76112449T>ACA357317163ART3,NUP54c.1133T>A (p.Leu378Gln)
c.*1488A>T (n.*1488A>T)
c.1001T>A (p.Leu334Gln)
c.1100T>A (p.Leu367Gln)
c.1034T>A (p.Leu345Gln)
c.1067T>A (p.Leu356Gln)
n.235T>A
n.331T>A
n.298T>A
n.540T>A
n.642T>A
c.1004T>A (p.Leu335Gln)
c.1103T>A (p.Leu368Gln)
c.1037T>A (p.Leu346Gln)
c.977T>A (p.Leu326Gln)
c.1070T>A (p.Leu357Gln)
n.2456T>A
n.2897T>A
c.971T>A (p.Leu324Gln)
c.938T>A (p.Leu313Gln)
c.911T>A (p.Leu304Gln)
c.878T>A (p.Leu293Gln)
c.845T>A (p.Leu282Gln)
4g.76112449T>CCA357317164ART3,NUP54c.1133T>C (p.Leu378Pro)
c.*1488A>G (n.*1488A>G)
c.1001T>C (p.Leu334Pro)
c.1100T>C (p.Leu367Pro)
c.1034T>C (p.Leu345Pro)
c.1067T>C (p.Leu356Pro)
n.235T>C
n.331T>C
n.298T>C
n.540T>C
n.642T>C
c.1004T>C (p.Leu335Pro)
c.1103T>C (p.Leu368Pro)
c.1037T>C (p.Leu346Pro)
c.977T>C (p.Leu326Pro)
c.1070T>C (p.Leu357Pro)
n.2456T>C
n.2897T>C
c.971T>C (p.Leu324Pro)
c.938T>C (p.Leu313Pro)
c.911T>C (p.Leu304Pro)
c.878T>C (p.Leu293Pro)
c.845T>C (p.Leu282Pro)
4g.76112449T>GCA357317165ART3,NUP54c.1133T>G (p.Leu378Arg)
c.*1488A>C (n.*1488A>C)
c.1001T>G (p.Leu334Arg)
c.1100T>G (p.Leu367Arg)
c.1034T>G (p.Leu345Arg)
c.1067T>G (p.Leu356Arg)
n.235T>G
n.331T>G
n.298T>G
n.540T>G
n.642T>G
c.1004T>G (p.Leu335Arg)
c.1103T>G (p.Leu368Arg)
c.1037T>G (p.Leu346Arg)
c.977T>G (p.Leu326Arg)
c.1070T>G (p.Leu357Arg)
n.2456T>G
n.2897T>G
c.971T>G (p.Leu324Arg)
c.938T>G (p.Leu313Arg)
c.911T>G (p.Leu304Arg)
c.878T>G (p.Leu293Arg)
c.845T>G (p.Leu282Arg)
4g.76112450G>ACA439956003ART3,NUP54c.1134G>A (p.Leu378=)
c.*1487C>T (n.*1487C>T)
c.1002G>A (p.Leu334=)
c.1101G>A (p.Leu367=)
c.1035G>A (p.Leu345=)
c.1068G>A (p.Leu356=)
n.236G>A
n.332G>A
n.299G>A
n.541G>A
n.643G>A
c.1005G>A (p.Leu335=)
c.1104G>A (p.Leu368=)
c.1038G>A (p.Leu346=)
c.978G>A (p.Leu326=)
c.1071G>A (p.Leu357=)
n.2457G>A
n.2898G>A
c.972G>A (p.Leu324=)
c.939G>A (p.Leu313=)
c.912G>A (p.Leu304=)
c.879G>A (p.Leu293=)
c.846G>A (p.Leu282=)
4g.76112450G>CCA439956004ART3,NUP54c.1134G>C (p.Leu378=)
c.*1487C>G (n.*1487C>G)
c.1002G>C (p.Leu334=)
c.1101G>C (p.Leu367=)
c.1035G>C (p.Leu345=)
c.1068G>C (p.Leu356=)
n.236G>C
n.332G>C
n.299G>C
n.541G>C
n.643G>C
c.1005G>C (p.Leu335=)
c.1104G>C (p.Leu368=)
c.1038G>C (p.Leu346=)
c.978G>C (p.Leu326=)
c.1071G>C (p.Leu357=)
n.2457G>C
n.2898G>C
c.972G>C (p.Leu324=)
c.939G>C (p.Leu313=)
c.912G>C (p.Leu304=)
c.879G>C (p.Leu293=)
c.846G>C (p.Leu282=)
4g.76112450G>TCA439956005ART3,NUP54c.1134G>T (p.Leu378=)
c.*1487C>A (n.*1487C>A)
c.1002G>T (p.Leu334=)
c.1101G>T (p.Leu367=)
c.1035G>T (p.Leu345=)
c.1068G>T (p.Leu356=)
n.236G>T
n.332G>T
n.299G>T
n.541G>T
n.643G>T
c.1005G>T (p.Leu335=)
c.1104G>T (p.Leu368=)
c.1038G>T (p.Leu346=)
c.978G>T (p.Leu326=)
c.1071G>T (p.Leu357=)
n.2457G>T
n.2898G>T
c.972G>T (p.Leu324=)
c.939G>T (p.Leu313=)
c.912G>T (p.Leu304=)
c.879G>T (p.Leu293=)
c.846G>T (p.Leu282=)
4g.76112451C>ACA357317168ART3,NUP54c.1135C>A (p.Leu379Ile)
c.*1486G>T (n.*1486G>T)
c.1003C>A (p.Leu335Ile)
c.1102C>A (p.Leu368Ile)
c.1036C>A (p.Leu346Ile)
c.1069C>A (p.Leu357Ile)
n.237C>A
n.333C>A
n.300C>A
n.542C>A
n.644C>A
c.1006C>A (p.Leu336Ile)
c.1105C>A (p.Leu369Ile)
c.1039C>A (p.Leu347Ile)
c.979C>A (p.Leu327Ile)
c.1072C>A (p.Leu358Ile)
n.2458C>A
n.2899C>A
c.973C>A (p.Leu325Ile)
c.940C>A (p.Leu314Ile)
c.913C>A (p.Leu305Ile)
c.880C>A (p.Leu294Ile)
c.847C>A (p.Leu283Ile)
4g.76112451C>GCA357317167ART3,NUP54c.1135C>G (p.Leu379Val)
c.*1486G>C (n.*1486G>C)
c.1003C>G (p.Leu335Val)
c.1102C>G (p.Leu368Val)
c.1036C>G (p.Leu346Val)
c.1069C>G (p.Leu357Val)
n.237C>G
n.333C>G
n.300C>G
n.542C>G
n.644C>G
c.1006C>G (p.Leu336Val)
c.1105C>G (p.Leu369Val)
c.1039C>G (p.Leu347Val)
c.979C>G (p.Leu327Val)
c.1072C>G (p.Leu358Val)
n.2458C>G
n.2899C>G
c.973C>G (p.Leu325Val)
c.940C>G (p.Leu314Val)
c.913C>G (p.Leu305Val)
c.880C>G (p.Leu294Val)
c.847C>G (p.Leu283Val)
4g.76112451C>TCA357317166ART3,NUP54c.1135C>T (p.Leu379Phe)
c.*1486G>A (n.*1486G>A)
c.1003C>T (p.Leu335Phe)
c.1102C>T (p.Leu368Phe)
c.1036C>T (p.Leu346Phe)
c.1069C>T (p.Leu357Phe)
n.237C>T
n.333C>T
n.300C>T
n.542C>T
n.644C>T
c.1006C>T (p.Leu336Phe)
c.1105C>T (p.Leu369Phe)
c.1039C>T (p.Leu347Phe)
c.979C>T (p.Leu327Phe)
c.1072C>T (p.Leu358Phe)
n.2458C>T
n.2899C>T
c.973C>T (p.Leu325Phe)
c.940C>T (p.Leu314Phe)
c.913C>T (p.Leu305Phe)
c.880C>T (p.Leu294Phe)
c.847C>T (p.Leu283Phe)
4g.76112452T>ACA357317169ART3,NUP54c.1136T>A (p.Leu379His)
c.*1485A>T (n.*1485A>T)
c.1004T>A (p.Leu335His)
c.1103T>A (p.Leu368His)
c.1037T>A (p.Leu346His)
c.1070T>A (p.Leu357His)
n.238T>A
n.334T>A
n.301T>A
n.543T>A
n.645T>A
c.1007T>A (p.Leu336His)
c.1106T>A (p.Leu369His)
c.1040T>A (p.Leu347His)
c.980T>A (p.Leu327His)
c.1073T>A (p.Leu358His)
n.2459T>A
n.2900T>A
c.974T>A (p.Leu325His)
c.941T>A (p.Leu314His)
c.914T>A (p.Leu305His)
c.881T>A (p.Leu294His)
c.848T>A (p.Leu283His)
4g.76112452T>CCA357317170ART3,NUP54c.1136T>C (p.Leu379Pro)
c.*1485A>G (n.*1485A>G)
c.1004T>C (p.Leu335Pro)
c.1103T>C (p.Leu368Pro)
c.1037T>C (p.Leu346Pro)
c.1070T>C (p.Leu357Pro)
n.238T>C
n.334T>C
n.301T>C
n.543T>C
n.645T>C
c.1007T>C (p.Leu336Pro)
c.1106T>C (p.Leu369Pro)
c.1040T>C (p.Leu347Pro)
c.980T>C (p.Leu327Pro)
c.1073T>C (p.Leu358Pro)
n.2459T>C
n.2900T>C
c.974T>C (p.Leu325Pro)
c.941T>C (p.Leu314Pro)
c.914T>C (p.Leu305Pro)
c.881T>C (p.Leu294Pro)
c.848T>C (p.Leu283Pro)
4g.76112452T>GCA357317171ART3,NUP54c.1136T>G (p.Leu379Arg)
c.*1485A>C (n.*1485A>C)
c.1004T>G (p.Leu335Arg)
c.1103T>G (p.Leu368Arg)
c.1037T>G (p.Leu346Arg)
c.1070T>G (p.Leu357Arg)
n.238T>G
n.334T>G
n.301T>G
n.543T>G
n.645T>G
c.1007T>G (p.Leu336Arg)
c.1106T>G (p.Leu369Arg)
c.1040T>G (p.Leu347Arg)
c.980T>G (p.Leu327Arg)
c.1073T>G (p.Leu358Arg)
n.2459T>G
n.2900T>G
c.974T>G (p.Leu325Arg)
c.941T>G (p.Leu314Arg)
c.914T>G (p.Leu305Arg)
c.881T>G (p.Leu294Arg)
c.848T>G (p.Leu283Arg)
4g.76112453T>ACA439956007ART3,NUP54c.1137T>A (p.Leu379=)
c.*1484A>T (n.*1484A>T)
c.1005T>A (p.Leu335=)
c.1104T>A (p.Leu368=)
c.1038T>A (p.Leu346=)
c.1071T>A (p.Leu357=)
n.239T>A
n.335T>A
n.302T>A
n.544T>A
n.646T>A
c.1008T>A (p.Leu336=)
c.1107T>A (p.Leu369=)
c.1041T>A (p.Leu347=)
c.981T>A (p.Leu327=)
c.1074T>A (p.Leu358=)
n.2460T>A
n.2901T>A
c.975T>A (p.Leu325=)
c.942T>A (p.Leu314=)
c.915T>A (p.Leu305=)
c.882T>A (p.Leu294=)
c.849T>A (p.Leu283=)
4g.76112453T>CCA99882526ART3,NUP54c.1137T>C (p.Leu379=)
c.*1484A>G (n.*1484A>G)
c.1005T>C (p.Leu335=)
c.1104T>C (p.Leu368=)
c.1038T>C (p.Leu346=)
c.1071T>C (p.Leu357=)
n.239T>C
n.335T>C
n.302T>C
n.544T>C
n.646T>C
c.1008T>C (p.Leu336=)
c.1107T>C (p.Leu369=)
c.1041T>C (p.Leu347=)
c.981T>C (p.Leu327=)
c.1074T>C (p.Leu358=)
n.2460T>C
n.2901T>C
c.975T>C (p.Leu325=)
c.942T>C (p.Leu314=)
c.915T>C (p.Leu305=)
c.882T>C (p.Leu294=)
c.849T>C (p.Leu283=)
 dbSNP gnomAD v3 gnomAD v4
4g.76112453T>GCA439956008ART3,NUP54c.1137T>G (p.Leu379=)
c.*1484A>C (n.*1484A>C)
c.1005T>G (p.Leu335=)
c.1104T>G (p.Leu368=)
c.1038T>G (p.Leu346=)
c.1071T>G (p.Leu357=)
n.239T>G
n.335T>G
n.302T>G
n.544T>G
n.646T>G
c.1008T>G (p.Leu336=)
c.1107T>G (p.Leu369=)
c.1041T>G (p.Leu347=)
c.981T>G (p.Leu327=)
c.1074T>G (p.Leu358=)
n.2460T>G
n.2901T>G
c.975T>G (p.Leu325=)
c.942T>G (p.Leu314=)
c.915T>G (p.Leu305=)
c.882T>G (p.Leu294=)
c.849T>G (p.Leu283=)
4g.76112453T=CA1469471018ART3,NUP54c.1137T= (p.Leu379=)
c.*1484A= (n.*1484A=)
c.1005T= (p.Leu335=)
c.1104T= (p.Leu368=)
c.1038T= (p.Leu346=)
c.1071T= (p.Leu357=)
n.239T=
n.335T=
n.302T=
n.544T=
n.646T=
c.1008T= (p.Leu336=)
c.1107T= (p.Leu369=)
c.1041T= (p.Leu347=)
c.981T= (p.Leu327=)
c.1074T= (p.Leu358=)
n.2460T=
n.2901T=
c.975T= (p.Leu325=)
c.942T= (p.Leu314=)
c.915T= (p.Leu305=)
c.882T= (p.Leu294=)
c.849T= (p.Leu283=)
4g.76112454C>ACA357317172ART3,NUP54c.1138C>A (p.Pro380Thr)
c.*1483G>T (n.*1483G>T)
c.1006C>A (p.Pro336Thr)
c.1105C>A (p.Pro369Thr)
c.1039C>A (p.Pro347Thr)
c.1072C>A (p.Pro358Thr)
n.240C>A
n.336C>A
n.303C>A
n.545C>A
n.647C>A
c.1009C>A (p.Pro337Thr)
c.1108C>A (p.Pro370Thr)
c.1042C>A (p.Pro348Thr)
c.982C>A (p.Pro328Thr)
c.1075C>A (p.Pro359Thr)
n.2461C>A
n.2902C>A
c.976C>A (p.Pro326Thr)
c.943C>A (p.Pro315Thr)
c.916C>A (p.Pro306Thr)
c.883C>A (p.Pro295Thr)
c.850C>A (p.Pro284Thr)
4g.76112454C=CA1469471023ART3,NUP54c.1138C= (p.Pro380=)
c.*1483G= (n.*1483G=)
c.1006C= (p.Pro336=)
c.1105C= (p.Pro369=)
c.1039C= (p.Pro347=)
c.1072C= (p.Pro358=)
n.240C=
n.336C=
n.303C=
n.545C=
n.647C=
c.1009C= (p.Pro337=)
c.1108C= (p.Pro370=)
c.1042C= (p.Pro348=)
c.982C= (p.Pro328=)
c.1075C= (p.Pro359=)
n.2461C=
n.2902C=
c.976C= (p.Pro326=)
c.943C= (p.Pro315=)
c.916C= (p.Pro306=)
c.883C= (p.Pro295=)
c.850C= (p.Pro284=)
4g.76112454C>GCA357317173ART3,NUP54c.1138C>G (p.Pro380Ala)
c.*1483G>C (n.*1483G>C)
c.1006C>G (p.Pro336Ala)
c.1105C>G (p.Pro369Ala)
c.1039C>G (p.Pro347Ala)
c.1072C>G (p.Pro358Ala)
n.240C>G
n.336C>G
n.303C>G
n.545C>G
n.647C>G
c.1009C>G (p.Pro337Ala)
c.1108C>G (p.Pro370Ala)
c.1042C>G (p.Pro348Ala)
c.982C>G (p.Pro328Ala)
c.1075C>G (p.Pro359Ala)
n.2461C>G
n.2902C>G
c.976C>G (p.Pro326Ala)
c.943C>G (p.Pro315Ala)
c.916C>G (p.Pro306Ala)
c.883C>G (p.Pro295Ala)
c.850C>G (p.Pro284Ala)
4g.76112454C>TCA2969588ART3,NUP54c.1138C>T (p.Pro380Ser)
c.*1483G>A (n.*1483G>A)
c.1006C>T (p.Pro336Ser)
c.1105C>T (p.Pro369Ser)
c.1039C>T (p.Pro347Ser)
c.1072C>T (p.Pro358Ser)
n.240C>T
n.336C>T
n.303C>T
n.545C>T
n.647C>T
c.1009C>T (p.Pro337Ser)
c.1108C>T (p.Pro370Ser)
c.1042C>T (p.Pro348Ser)
c.982C>T (p.Pro328Ser)
c.1075C>T (p.Pro359Ser)
n.2461C>T
n.2902C>T
c.976C>T (p.Pro326Ser)
c.943C>T (p.Pro315Ser)
c.916C>T (p.Pro306Ser)
c.883C>T (p.Pro295Ser)
c.850C>T (p.Pro284Ser)
 dbSNP ExAC gnomAD v2
4g.76112454_76112456delinsCCACA1469471025ART3,NUP54c.1138_1140delinsCCA (p.Pro380=)
c.*1481_*1483delinsTGG (n.*1481_*1483delinsTGG)
c.1006_1008delinsCCA (p.Pro336=)
c.1105_1107delinsCCA (p.Pro369=)
c.1039_1041delinsCCA (p.Pro347=)
c.1072_1074delinsCCA (p.Pro358=)
n.240_242delinsCCA
n.336_338delinsCCA
n.303_305delinsCCA
n.545_547delinsCCA
n.647_649delinsCCA
c.1009_1011delinsCCA (p.Pro337=)
c.1108_1110delinsCCA (p.Pro370=)
c.1042_1044delinsCCA (p.Pro348=)
c.982_984delinsCCA (p.Pro328=)
c.1075_1077delinsCCA (p.Pro359=)
n.2461_2463delinsCCA
n.2902_2904delinsCCA
c.976_978delinsCCA (p.Pro326=)
c.943_945delinsCCA (p.Pro315=)
c.916_918delinsCCA (p.Pro306=)
c.883_885delinsCCA (p.Pro295=)
c.850_852delinsCCA (p.Pro284=)
4g.76112455C>ACA357317174ART3,NUP54c.1139C>A (p.Pro380Gln)
c.*1482G>T (n.*1482G>T)
c.1007C>A (p.Pro336Gln)
c.1106C>A (p.Pro369Gln)
c.1040C>A (p.Pro347Gln)
c.1073C>A (p.Pro358Gln)
n.241C>A
n.337C>A
n.304C>A
n.546C>A
n.648C>A
c.1010C>A (p.Pro337Gln)
c.1109C>A (p.Pro370Gln)
c.1043C>A (p.Pro348Gln)
c.983C>A (p.Pro328Gln)
c.1076C>A (p.Pro359Gln)
n.2462C>A
n.2903C>A
c.977C>A (p.Pro326Gln)
c.944C>A (p.Pro315Gln)
c.917C>A (p.Pro306Gln)
c.884C>A (p.Pro295Gln)
c.851C>A (p.Pro284Gln)
4g.76112455C>GCA357317175ART3,NUP54c.1139C>G (p.Pro380Arg)
c.*1482G>C (n.*1482G>C)
c.1007C>G (p.Pro336Arg)
c.1106C>G (p.Pro369Arg)
c.1040C>G (p.Pro347Arg)
c.1073C>G (p.Pro358Arg)
n.241C>G
n.337C>G
n.304C>G
n.546C>G
n.648C>G
c.1010C>G (p.Pro337Arg)
c.1109C>G (p.Pro370Arg)
c.1043C>G (p.Pro348Arg)
c.983C>G (p.Pro328Arg)
c.1076C>G (p.Pro359Arg)
n.2462C>G
n.2903C>G
c.977C>G (p.Pro326Arg)
c.944C>G (p.Pro315Arg)
c.917C>G (p.Pro306Arg)
c.884C>G (p.Pro295Arg)
c.851C>G (p.Pro284Arg)
4g.76112455C>TCA357317176ART3,NUP54c.1139C>T (p.Pro380Leu)
c.*1482G>A (n.*1482G>A)
c.1007C>T (p.Pro336Leu)
c.1106C>T (p.Pro369Leu)
c.1040C>T (p.Pro347Leu)
c.1073C>T (p.Pro358Leu)
n.241C>T
n.337C>T
n.304C>T
n.546C>T
n.648C>T
c.1010C>T (p.Pro337Leu)
c.1109C>T (p.Pro370Leu)
c.1043C>T (p.Pro348Leu)
c.983C>T (p.Pro328Leu)
c.1076C>T (p.Pro359Leu)
n.2462C>T
n.2903C>T
c.977C>T (p.Pro326Leu)
c.944C>T (p.Pro315Leu)
c.917C>T (p.Pro306Leu)
c.884C>T (p.Pro295Leu)
c.851C>T (p.Pro284Leu)
4g.76112457_76112458delCA2969589ART3,NUP54c.1141_1142del (p.Gln381ValfsTer22)
c.*1481_*1482del (n.*1481_*1482del)
c.1009_1010del (p.Gln337ValfsTer22)
c.1108_1109del (p.Gln370ValfsTer22)
c.1042_1043del (p.Gln348ValfsTer22)
c.1075_1076del (p.Gln359ValfsTer22)
n.243_244del
n.339_340del
n.306_307del
n.548_549del
n.650_651del
c.1012_1013del (p.Gln338ValfsTer22)
c.1111_1112del (p.Gln371ValfsTer22)
c.1045_1046del (p.Gln349ValfsTer22)
c.985_986del (p.Gln329ValfsTer22)
c.1078_1079del (p.Gln360ValfsTer22)
n.2464_2465del
n.2905_2906del
c.979_980del (p.Gln327ValfsTer22)
c.946_947del (p.Gln316ValfsTer22)
c.919_920del (p.Gln307ValfsTer22)
c.886_887del (p.Gln296ValfsTer22)
c.853_854del (p.Gln285ValfsTer22)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112456A>CCA439956010ART3,NUP54c.1140A>C (p.Pro380=)
c.*1481T>G (n.*1481T>G)
c.1008A>C (p.Pro336=)
c.1107A>C (p.Pro369=)
c.1041A>C (p.Pro347=)
c.1074A>C (p.Pro358=)
n.242A>C
n.338A>C
n.305A>C
n.547A>C
n.649A>C
c.1011A>C (p.Pro337=)
c.1110A>C (p.Pro370=)
c.1044A>C (p.Pro348=)
c.984A>C (p.Pro328=)
c.1077A>C (p.Pro359=)
n.2463A>C
n.2904A>C
c.978A>C (p.Pro326=)
c.945A>C (p.Pro315=)
c.918A>C (p.Pro306=)
c.885A>C (p.Pro295=)
c.852A>C (p.Pro284=)
4g.76112456A>GCA439956011ART3,NUP54c.1140A>G (p.Pro380=)
c.*1481T>C (n.*1481T>C)
c.1008A>G (p.Pro336=)
c.1107A>G (p.Pro369=)
c.1041A>G (p.Pro347=)
c.1074A>G (p.Pro358=)
n.242A>G
n.338A>G
n.305A>G
n.547A>G
n.649A>G
c.1011A>G (p.Pro337=)
c.1110A>G (p.Pro370=)
c.1044A>G (p.Pro348=)
c.984A>G (p.Pro328=)
c.1077A>G (p.Pro359=)
n.2463A>G
n.2904A>G
c.978A>G (p.Pro326=)
c.945A>G (p.Pro315=)
c.918A>G (p.Pro306=)
c.885A>G (p.Pro295=)
c.852A>G (p.Pro284=)
4g.76112456A>TCA439956012ART3,NUP54c.1140A>T (p.Pro380=)
c.*1481T>A (n.*1481T>A)
c.1008A>T (p.Pro336=)
c.1107A>T (p.Pro369=)
c.1041A>T (p.Pro347=)
c.1074A>T (p.Pro358=)
n.242A>T
n.338A>T
n.305A>T
n.547A>T
n.649A>T
c.1011A>T (p.Pro337=)
c.1110A>T (p.Pro370=)
c.1044A>T (p.Pro348=)
c.984A>T (p.Pro328=)
c.1077A>T (p.Pro359=)
n.2463A>T
n.2904A>T
c.978A>T (p.Pro326=)
c.945A>T (p.Pro315=)
c.918A>T (p.Pro306=)
c.885A>T (p.Pro295=)
c.852A>T (p.Pro284=)
4g.76112457C>ACA357317177ART3,NUP54c.1141C>A (p.Gln381Lys)
c.*1480G>T (n.*1480G>T)
c.1009C>A (p.Gln337Lys)
c.1108C>A (p.Gln370Lys)
c.1042C>A (p.Gln348Lys)
c.1075C>A (p.Gln359Lys)
n.243C>A
n.339C>A
n.306C>A
n.548C>A
n.650C>A
c.1012C>A (p.Gln338Lys)
c.1111C>A (p.Gln371Lys)
c.1045C>A (p.Gln349Lys)
c.985C>A (p.Gln329Lys)
c.1078C>A (p.Gln360Lys)
n.2464C>A
n.2905C>A
c.979C>A (p.Gln327Lys)
c.946C>A (p.Gln316Lys)
c.919C>A (p.Gln307Lys)
c.886C>A (p.Gln296Lys)
c.853C>A (p.Gln285Lys)
4g.76112457C=CA1469471029ART3,NUP54c.1141C= (p.Gln381=)
c.*1480G= (n.*1480G=)
c.1009C= (p.Gln337=)
c.1108C= (p.Gln370=)
c.1042C= (p.Gln348=)
c.1075C= (p.Gln359=)
n.243C=
n.339C=
n.306C=
n.548C=
n.650C=
c.1012C= (p.Gln338=)
c.1111C= (p.Gln371=)
c.1045C= (p.Gln349=)
c.985C= (p.Gln329=)
c.1078C= (p.Gln360=)
n.2464C=
n.2905C=
c.979C= (p.Gln327=)
c.946C= (p.Gln316=)
c.919C= (p.Gln307=)
c.886C= (p.Gln296=)
c.853C= (p.Gln285=)
4g.76112457C>GCA2969590ART3,NUP54c.1141C>G (p.Gln381Glu)
c.*1480G>C (n.*1480G>C)
c.1009C>G (p.Gln337Glu)
c.1108C>G (p.Gln370Glu)
c.1042C>G (p.Gln348Glu)
c.1075C>G (p.Gln359Glu)
n.243C>G
n.339C>G
n.306C>G
n.548C>G
n.650C>G
c.1012C>G (p.Gln338Glu)
c.1111C>G (p.Gln371Glu)
c.1045C>G (p.Gln349Glu)
c.985C>G (p.Gln329Glu)
c.1078C>G (p.Gln360Glu)
n.2464C>G
n.2905C>G
c.979C>G (p.Gln327Glu)
c.946C>G (p.Gln316Glu)
c.919C>G (p.Gln307Glu)
c.886C>G (p.Gln296Glu)
c.853C>G (p.Gln285Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112457C>TCA357317178ART3,NUP54c.1141C>T (p.Gln381Ter)
c.*1480G>A (n.*1480G>A)
c.1009C>T (p.Gln337Ter)
c.1108C>T (p.Gln370Ter)
c.1042C>T (p.Gln348Ter)
c.1075C>T (p.Gln359Ter)
n.243C>T
n.339C>T
n.306C>T
n.548C>T
n.650C>T
c.1012C>T (p.Gln338Ter)
c.1111C>T (p.Gln371Ter)
c.1045C>T (p.Gln349Ter)
c.985C>T (p.Gln329Ter)
c.1078C>T (p.Gln360Ter)
n.2464C>T
n.2905C>T
c.979C>T (p.Gln327Ter)
c.946C>T (p.Gln316Ter)
c.919C>T (p.Gln307Ter)
c.886C>T (p.Gln296Ter)
c.853C>T (p.Gln285Ter)
 dbSNP
4g.76112458A>CCA357317180ART3,NUP54c.1142A>C (p.Gln381Pro)
c.*1479T>G (n.*1479T>G)
c.1010A>C (p.Gln337Pro)
c.1109A>C (p.Gln370Pro)
c.1043A>C (p.Gln348Pro)
c.1076A>C (p.Gln359Pro)
n.244A>C
n.340A>C
n.307A>C
n.549A>C
n.651A>C
c.1013A>C (p.Gln338Pro)
c.1112A>C (p.Gln371Pro)
c.1046A>C (p.Gln349Pro)
c.986A>C (p.Gln329Pro)
c.1079A>C (p.Gln360Pro)
n.2465A>C
n.2906A>C
c.980A>C (p.Gln327Pro)
c.947A>C (p.Gln316Pro)
c.920A>C (p.Gln307Pro)
c.887A>C (p.Gln296Pro)
c.854A>C (p.Gln285Pro)
4g.76112458A>GCA357317181ART3,NUP54c.1142A>G (p.Gln381Arg)
c.*1479T>C (n.*1479T>C)
c.1010A>G (p.Gln337Arg)
c.1109A>G (p.Gln370Arg)
c.1043A>G (p.Gln348Arg)
c.1076A>G (p.Gln359Arg)
n.244A>G
n.340A>G
n.307A>G
n.549A>G
n.651A>G
c.1013A>G (p.Gln338Arg)
c.1112A>G (p.Gln371Arg)
c.1046A>G (p.Gln349Arg)
c.986A>G (p.Gln329Arg)
c.1079A>G (p.Gln360Arg)
n.2465A>G
n.2906A>G
c.980A>G (p.Gln327Arg)
c.947A>G (p.Gln316Arg)
c.920A>G (p.Gln307Arg)
c.887A>G (p.Gln296Arg)
c.854A>G (p.Gln285Arg)
4g.76112458A>TCA357317179ART3,NUP54c.1142A>T (p.Gln381Leu)
c.*1479T>A (n.*1479T>A)
c.1010A>T (p.Gln337Leu)
c.1109A>T (p.Gln370Leu)
c.1043A>T (p.Gln348Leu)
c.1076A>T (p.Gln359Leu)
n.244A>T
n.340A>T
n.307A>T
n.549A>T
n.651A>T
c.1013A>T (p.Gln338Leu)
c.1112A>T (p.Gln371Leu)
c.1046A>T (p.Gln349Leu)
c.986A>T (p.Gln329Leu)
c.1079A>T (p.Gln360Leu)
n.2465A>T
n.2906A>T
c.980A>T (p.Gln327Leu)
c.947A>T (p.Gln316Leu)
c.920A>T (p.Gln307Leu)
c.887A>T (p.Gln296Leu)
c.854A>T (p.Gln285Leu)
4g.76112459G>ACA439956016ART3,NUP54c.1143G>A (p.Gln381=)
c.*1478C>T (n.*1478C>T)
c.1011G>A (p.Gln337=)
c.1110G>A (p.Gln370=)
c.1044G>A (p.Gln348=)
c.1077G>A (p.Gln359=)
n.245G>A
n.341G>A
n.308G>A
n.550G>A
n.652G>A
c.1014G>A (p.Gln338=)
c.1113G>A (p.Gln371=)
c.1047G>A (p.Gln349=)
c.987G>A (p.Gln329=)
c.1080G>A (p.Gln360=)
n.2466G>A
n.2907G>A
c.981G>A (p.Gln327=)
c.948G>A (p.Gln316=)
c.921G>A (p.Gln307=)
c.888G>A (p.Gln296=)
c.855G>A (p.Gln285=)
 gnomAD v4
4g.76112459G>CCA357317182ART3,NUP54c.1143G>C (p.Gln381His)
c.*1478C>G (n.*1478C>G)
c.1011G>C (p.Gln337His)
c.1110G>C (p.Gln370His)
c.1044G>C (p.Gln348His)
c.1077G>C (p.Gln359His)
n.245G>C
n.341G>C
n.308G>C
n.550G>C
n.652G>C
c.1014G>C (p.Gln338His)
c.1113G>C (p.Gln371His)
c.1047G>C (p.Gln349His)
c.987G>C (p.Gln329His)
c.1080G>C (p.Gln360His)
n.2466G>C
n.2907G>C
c.981G>C (p.Gln327His)
c.948G>C (p.Gln316His)
c.921G>C (p.Gln307His)
c.888G>C (p.Gln296His)
c.855G>C (p.Gln285His)
4g.76112459G=CA1469471032ART3,NUP54c.1143G= (p.Gln381=)
c.*1478C= (n.*1478C=)
c.1011G= (p.Gln337=)
c.1110G= (p.Gln370=)
c.1044G= (p.Gln348=)
c.1077G= (p.Gln359=)
n.245G=
n.341G=
n.308G=
n.550G=
n.652G=
c.1014G= (p.Gln338=)
c.1113G= (p.Gln371=)
c.1047G= (p.Gln349=)
c.987G= (p.Gln329=)
c.1080G= (p.Gln360=)
n.2466G=
n.2907G=
c.981G= (p.Gln327=)
c.948G= (p.Gln316=)
c.921G= (p.Gln307=)
c.888G= (p.Gln296=)
c.855G= (p.Gln285=)
4g.76112459G>TCA357317183ART3,NUP54c.1143G>T (p.Gln381His)
c.*1478C>A (n.*1478C>A)
c.1011G>T (p.Gln337His)
c.1110G>T (p.Gln370His)
c.1044G>T (p.Gln348His)
c.1077G>T (p.Gln359His)
n.245G>T
n.341G>T
n.308G>T
n.550G>T
n.652G>T
c.1014G>T (p.Gln338His)
c.1113G>T (p.Gln371His)
c.1047G>T (p.Gln349His)
c.987G>T (p.Gln329His)
c.1080G>T (p.Gln360His)
n.2466G>T
n.2907G>T
c.981G>T (p.Gln327His)
c.948G>T (p.Gln316His)
c.921G>T (p.Gln307His)
c.888G>T (p.Gln296His)
c.855G>T (p.Gln285His)
4g.76112460T>ACA357317184ART3,NUP54c.1144T>A (p.Phe382Ile)
c.*1477A>T (n.*1477A>T)
c.1012T>A (p.Phe338Ile)
c.1111T>A (p.Phe371Ile)
c.1045T>A (p.Phe349Ile)
c.1078T>A (p.Phe360Ile)
n.246T>A
n.342T>A
n.309T>A
n.551T>A
n.653T>A
c.1015T>A (p.Phe339Ile)
c.1114T>A (p.Phe372Ile)
c.1048T>A (p.Phe350Ile)
c.988T>A (p.Phe330Ile)
c.1081T>A (p.Phe361Ile)
n.2467T>A
n.2908T>A
c.982T>A (p.Phe328Ile)
c.949T>A (p.Phe317Ile)
c.922T>A (p.Phe308Ile)
c.889T>A (p.Phe297Ile)
c.856T>A (p.Phe286Ile)
4g.76112460T>CCA357317185ART3,NUP54c.1144T>C (p.Phe382Leu)
c.*1477A>G (n.*1477A>G)
c.1012T>C (p.Phe338Leu)
c.1111T>C (p.Phe371Leu)
c.1045T>C (p.Phe349Leu)
c.1078T>C (p.Phe360Leu)
n.246T>C
n.342T>C
n.309T>C
n.551T>C
n.653T>C
c.1015T>C (p.Phe339Leu)
c.1114T>C (p.Phe372Leu)
c.1048T>C (p.Phe350Leu)
c.988T>C (p.Phe330Leu)
c.1081T>C (p.Phe361Leu)
n.2467T>C
n.2908T>C
c.982T>C (p.Phe328Leu)
c.949T>C (p.Phe317Leu)
c.922T>C (p.Phe308Leu)
c.889T>C (p.Phe297Leu)
c.856T>C (p.Phe286Leu)
4g.76112460T>GCA357317186ART3,NUP54c.1144T>G (p.Phe382Val)
c.*1477A>C (n.*1477A>C)
c.1012T>G (p.Phe338Val)
c.1111T>G (p.Phe371Val)
c.1045T>G (p.Phe349Val)
c.1078T>G (p.Phe360Val)
n.246T>G
n.342T>G
n.309T>G
n.551T>G
n.653T>G
c.1015T>G (p.Phe339Val)
c.1114T>G (p.Phe372Val)
c.1048T>G (p.Phe350Val)
c.988T>G (p.Phe330Val)
c.1081T>G (p.Phe361Val)
n.2467T>G
n.2908T>G
c.982T>G (p.Phe328Val)
c.949T>G (p.Phe317Val)
c.922T>G (p.Phe308Val)
c.889T>G (p.Phe297Val)
c.856T>G (p.Phe286Val)
 gnomAD v4
4g.76112462dupCA552346489ART3,NUP54c.1146dup (p.Gly383TrpfsTer21)
c.*1477dup (n.*1477dup)
c.1014dup (p.Gly339TrpfsTer21)
c.1113dup (p.Gly372TrpfsTer21)
c.1047dup (p.Gly350TrpfsTer21)
c.1080dup (p.Gly361TrpfsTer21)
n.248dup
n.344dup
n.311dup
n.553dup
n.655dup
c.1017dup (p.Gly340TrpfsTer21)
c.1116dup (p.Gly373TrpfsTer21)
c.1050dup (p.Gly351TrpfsTer21)
c.990dup (p.Gly331TrpfsTer21)
c.1083dup (p.Gly362TrpfsTer21)
n.2469dup
n.2910dup
c.984dup (p.Gly329TrpfsTer21)
c.951dup (p.Gly318TrpfsTer21)
c.924dup (p.Gly309TrpfsTer21)
c.891dup (p.Gly298TrpfsTer21)
c.858dup (p.Gly287TrpfsTer21)
 dbSNP gnomAD v2 gnomAD v4
4g.76112461T>ACA357317187ART3,NUP54c.1145T>A (p.Phe382Tyr)
c.*1476A>T (n.*1476A>T)
c.1013T>A (p.Phe338Tyr)
c.1112T>A (p.Phe371Tyr)
c.1046T>A (p.Phe349Tyr)
c.1079T>A (p.Phe360Tyr)
n.247T>A
n.343T>A
n.310T>A
n.552T>A
n.654T>A
c.1016T>A (p.Phe339Tyr)
c.1115T>A (p.Phe372Tyr)
c.1049T>A (p.Phe350Tyr)
c.989T>A (p.Phe330Tyr)
c.1082T>A (p.Phe361Tyr)
n.2468T>A
n.2909T>A
c.983T>A (p.Phe328Tyr)
c.950T>A (p.Phe317Tyr)
c.923T>A (p.Phe308Tyr)
c.890T>A (p.Phe297Tyr)
c.857T>A (p.Phe286Tyr)
4g.76112461T>CCA357317188ART3,NUP54c.1145T>C (p.Phe382Ser)
c.*1476A>G (n.*1476A>G)
c.1013T>C (p.Phe338Ser)
c.1112T>C (p.Phe371Ser)
c.1046T>C (p.Phe349Ser)
c.1079T>C (p.Phe360Ser)
n.247T>C
n.343T>C
n.310T>C
n.552T>C
n.654T>C
c.1016T>C (p.Phe339Ser)
c.1115T>C (p.Phe372Ser)
c.1049T>C (p.Phe350Ser)
c.989T>C (p.Phe330Ser)
c.1082T>C (p.Phe361Ser)
n.2468T>C
n.2909T>C
c.983T>C (p.Phe328Ser)
c.950T>C (p.Phe317Ser)
c.923T>C (p.Phe308Ser)
c.890T>C (p.Phe297Ser)
c.857T>C (p.Phe286Ser)
 gnomAD v4
4g.76112461T>GCA357317189ART3,NUP54c.1145T>G (p.Phe382Cys)
c.*1476A>C (n.*1476A>C)
c.1013T>G (p.Phe338Cys)
c.1112T>G (p.Phe371Cys)
c.1046T>G (p.Phe349Cys)
c.1079T>G (p.Phe360Cys)
n.247T>G
n.343T>G
n.310T>G
n.552T>G
n.654T>G
c.1016T>G (p.Phe339Cys)
c.1115T>G (p.Phe372Cys)
c.1049T>G (p.Phe350Cys)
c.989T>G (p.Phe330Cys)
c.1082T>G (p.Phe361Cys)
n.2468T>G
n.2909T>G
c.983T>G (p.Phe328Cys)
c.950T>G (p.Phe317Cys)
c.923T>G (p.Phe308Cys)
c.890T>G (p.Phe297Cys)
c.857T>G (p.Phe286Cys)
4g.76112462T>ACA357317190ART3,NUP54c.1146T>A (p.Phe382Leu)
c.*1475A>T (n.*1475A>T)
c.1014T>A (p.Phe338Leu)
c.1113T>A (p.Phe371Leu)
c.1047T>A (p.Phe349Leu)
c.1080T>A (p.Phe360Leu)
n.248T>A
n.344T>A
n.311T>A
n.553T>A
n.655T>A
c.1017T>A (p.Phe339Leu)
c.1116T>A (p.Phe372Leu)
c.1050T>A (p.Phe350Leu)
c.990T>A (p.Phe330Leu)
c.1083T>A (p.Phe361Leu)
n.2469T>A
n.2910T>A
c.984T>A (p.Phe328Leu)
c.951T>A (p.Phe317Leu)
c.924T>A (p.Phe308Leu)
c.891T>A (p.Phe297Leu)
c.858T>A (p.Phe286Leu)
4g.76112462T>CCA439956020ART3,NUP54c.1146T>C (p.Phe382=)
c.*1475A>G (n.*1475A>G)
c.1014T>C (p.Phe338=)
c.1113T>C (p.Phe371=)
c.1047T>C (p.Phe349=)
c.1080T>C (p.Phe360=)
n.248T>C
n.344T>C
n.311T>C
n.553T>C
n.655T>C
c.1017T>C (p.Phe339=)
c.1116T>C (p.Phe372=)
c.1050T>C (p.Phe350=)
c.990T>C (p.Phe330=)
c.1083T>C (p.Phe361=)
n.2469T>C
n.2910T>C
c.984T>C (p.Phe328=)
c.951T>C (p.Phe317=)
c.924T>C (p.Phe308=)
c.891T>C (p.Phe297=)
c.858T>C (p.Phe286=)
4g.76112462T>GCA357317191ART3,NUP54c.1146T>G (p.Phe382Leu)
c.*1475A>C (n.*1475A>C)
c.1014T>G (p.Phe338Leu)
c.1113T>G (p.Phe371Leu)
c.1047T>G (p.Phe349Leu)
c.1080T>G (p.Phe360Leu)
n.248T>G
n.344T>G
n.311T>G
n.553T>G
n.655T>G
c.1017T>G (p.Phe339Leu)
c.1116T>G (p.Phe372Leu)
c.1050T>G (p.Phe350Leu)
c.990T>G (p.Phe330Leu)
c.1083T>G (p.Phe361Leu)
n.2469T>G
n.2910T>G
c.984T>G (p.Phe328Leu)
c.951T>G (p.Phe317Leu)
c.924T>G (p.Phe308Leu)
c.891T>G (p.Phe297Leu)
c.858T>G (p.Phe286Leu)
4g.76112463G>ACA357317192ART3,NUP54c.1147G>A (p.Gly383Arg)
c.*1474C>T (n.*1474C>T)
c.1015G>A (p.Gly339Arg)
c.1114G>A (p.Gly372Arg)
c.1048G>A (p.Gly350Arg)
c.1081G>A (p.Gly361Arg)
n.249G>A
n.345G>A
n.312G>A
n.554G>A
n.656G>A
c.1018G>A (p.Gly340Arg)
c.1117G>A (p.Gly373Arg)
c.1051G>A (p.Gly351Arg)
c.991G>A (p.Gly331Arg)
c.1084G>A (p.Gly362Arg)
n.2470G>A
n.2911G>A
c.985G>A (p.Gly329Arg)
c.952G>A (p.Gly318Arg)
c.925G>A (p.Gly309Arg)
c.892G>A (p.Gly298Arg)
c.859G>A (p.Gly287Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.76112463G>CCA357317193ART3,NUP54c.1147G>C (p.Gly383Arg)
c.*1474C>G (n.*1474C>G)
c.1015G>C (p.Gly339Arg)
c.1114G>C (p.Gly372Arg)
c.1048G>C (p.Gly350Arg)
c.1081G>C (p.Gly361Arg)
n.249G>C
n.345G>C
n.312G>C
n.554G>C
n.656G>C
c.1018G>C (p.Gly340Arg)
c.1117G>C (p.Gly373Arg)
c.1051G>C (p.Gly351Arg)
c.991G>C (p.Gly331Arg)
c.1084G>C (p.Gly362Arg)
n.2470G>C
n.2911G>C
c.985G>C (p.Gly329Arg)
c.952G>C (p.Gly318Arg)
c.925G>C (p.Gly309Arg)
c.892G>C (p.Gly298Arg)
c.859G>C (p.Gly287Arg)
 dbSNP gnomAD v4
4g.76112463G=CA1469471037ART3,NUP54c.1147G= (p.Gly383=)
c.*1474C= (n.*1474C=)
c.1015G= (p.Gly339=)
c.1114G= (p.Gly372=)
c.1048G= (p.Gly350=)
c.1081G= (p.Gly361=)
n.249G=
n.345G=
n.312G=
n.554G=
n.656G=
c.1018G= (p.Gly340=)
c.1117G= (p.Gly373=)
c.1051G= (p.Gly351=)
c.991G= (p.Gly331=)
c.1084G= (p.Gly362=)
n.2470G=
n.2911G=
c.985G= (p.Gly329=)
c.952G= (p.Gly318=)
c.925G= (p.Gly309=)
c.892G= (p.Gly298=)
c.859G= (p.Gly287=)
4g.76112463G>TCA357317194ART3,NUP54c.1147G>T (p.Gly383Trp)
c.*1474C>A (n.*1474C>A)
c.1015G>T (p.Gly339Trp)
c.1114G>T (p.Gly372Trp)
c.1048G>T (p.Gly350Trp)
c.1081G>T (p.Gly361Trp)
n.249G>T
n.345G>T
n.312G>T
n.554G>T
n.656G>T
c.1018G>T (p.Gly340Trp)
c.1117G>T (p.Gly373Trp)
c.1051G>T (p.Gly351Trp)
c.991G>T (p.Gly331Trp)
c.1084G>T (p.Gly362Trp)
n.2470G>T
n.2911G>T
c.985G>T (p.Gly329Trp)
c.952G>T (p.Gly318Trp)
c.925G>T (p.Gly309Trp)
c.892G>T (p.Gly298Trp)
c.859G>T (p.Gly287Trp)
4g.76112465delCA2671060496ART3,NUP54c.1149del (p.Met384TrpfsTer5)
c.*1474del (n.*1474del)
c.1017del (p.Met340TrpfsTer5)
c.1116del (p.Met373TrpfsTer5)
c.1050del (p.Met351TrpfsTer5)
c.1083del (p.Met362TrpfsTer5)
n.251del
n.347del
n.314del
n.556del
n.658del
c.1020del (p.Met341TrpfsTer5)
c.1119del (p.Met374TrpfsTer5)
c.1053del (p.Met352TrpfsTer5)
c.993del (p.Met332TrpfsTer5)
c.1086del (p.Met363TrpfsTer5)
n.2472del
n.2913del
c.987del (p.Met330TrpfsTer5)
c.954del (p.Met319TrpfsTer5)
c.927del (p.Met310TrpfsTer5)
c.894del (p.Met299TrpfsTer5)
c.861del (p.Met288TrpfsTer5)
 gnomAD v4
4g.76112464G>ACA357317195ART3,NUP54c.1148G>A (p.Gly383Glu)
c.*1473C>T (n.*1473C>T)
c.1016G>A (p.Gly339Glu)
c.1115G>A (p.Gly372Glu)
c.1049G>A (p.Gly350Glu)
c.1082G>A (p.Gly361Glu)
n.250G>A
n.346G>A
n.313G>A
n.555G>A
n.657G>A
c.1019G>A (p.Gly340Glu)
c.1118G>A (p.Gly373Glu)
c.1052G>A (p.Gly351Glu)
c.992G>A (p.Gly331Glu)
c.1085G>A (p.Gly362Glu)
n.2471G>A
n.2912G>A
c.986G>A (p.Gly329Glu)
c.953G>A (p.Gly318Glu)
c.926G>A (p.Gly309Glu)
c.893G>A (p.Gly298Glu)
c.860G>A (p.Gly287Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.76112464G>CCA357317197ART3,NUP54c.1148G>C (p.Gly383Ala)
c.*1473C>G (n.*1473C>G)
c.1016G>C (p.Gly339Ala)
c.1115G>C (p.Gly372Ala)
c.1049G>C (p.Gly350Ala)
c.1082G>C (p.Gly361Ala)
n.250G>C
n.346G>C
n.313G>C
n.555G>C
n.657G>C
c.1019G>C (p.Gly340Ala)
c.1118G>C (p.Gly373Ala)
c.1052G>C (p.Gly351Ala)
c.992G>C (p.Gly331Ala)
c.1085G>C (p.Gly362Ala)
n.2471G>C
n.2912G>C
c.986G>C (p.Gly329Ala)
c.953G>C (p.Gly318Ala)
c.926G>C (p.Gly309Ala)
c.893G>C (p.Gly298Ala)
c.860G>C (p.Gly287Ala)
4g.76112464G=CA1469471039ART3,NUP54c.1148G= (p.Gly383=)
c.*1473C= (n.*1473C=)
c.1016G= (p.Gly339=)
c.1115G= (p.Gly372=)
c.1049G= (p.Gly350=)
c.1082G= (p.Gly361=)
n.250G=
n.346G=
n.313G=
n.555G=
n.657G=
c.1019G= (p.Gly340=)
c.1118G= (p.Gly373=)
c.1052G= (p.Gly351=)
c.992G= (p.Gly331=)
c.1085G= (p.Gly362=)
n.2471G=
n.2912G=
c.986G= (p.Gly329=)
c.953G= (p.Gly318=)
c.926G= (p.Gly309=)
c.893G= (p.Gly298=)
c.860G= (p.Gly287=)
4g.76112464G>TCA357317196ART3,NUP54c.1148G>T (p.Gly383Val)
c.*1473C>A (n.*1473C>A)
c.1016G>T (p.Gly339Val)
c.1115G>T (p.Gly372Val)
c.1049G>T (p.Gly350Val)
c.1082G>T (p.Gly361Val)
n.250G>T
n.346G>T
n.313G>T
n.555G>T
n.657G>T
c.1019G>T (p.Gly340Val)
c.1118G>T (p.Gly373Val)
c.1052G>T (p.Gly351Val)
c.992G>T (p.Gly331Val)
c.1085G>T (p.Gly362Val)
n.2471G>T
n.2912G>T
c.986G>T (p.Gly329Val)
c.953G>T (p.Gly318Val)
c.926G>T (p.Gly309Val)
c.893G>T (p.Gly298Val)
c.860G>T (p.Gly287Val)
4g.76112465G>ACA439956021ART3,NUP54c.1149G>A (p.Gly383=)
c.*1472C>T (n.*1472C>T)
c.1017G>A (p.Gly339=)
c.1116G>A (p.Gly372=)
c.1050G>A (p.Gly350=)
c.1083G>A (p.Gly361=)
n.251G>A
n.347G>A
n.314G>A
n.556G>A
n.658G>A
c.1020G>A (p.Gly340=)
c.1119G>A (p.Gly373=)
c.1053G>A (p.Gly351=)
c.993G>A (p.Gly331=)
c.1086G>A (p.Gly362=)
n.2472G>A
n.2913G>A
c.987G>A (p.Gly329=)
c.954G>A (p.Gly318=)
c.927G>A (p.Gly309=)
c.894G>A (p.Gly298=)
c.861G>A (p.Gly287=)
4g.76112465G>CCA439956022ART3,NUP54c.1149G>C (p.Gly383=)
c.*1472C>G (n.*1472C>G)
c.1017G>C (p.Gly339=)
c.1116G>C (p.Gly372=)
c.1050G>C (p.Gly350=)
c.1083G>C (p.Gly361=)
n.251G>C
n.347G>C
n.314G>C
n.556G>C
n.658G>C
c.1020G>C (p.Gly340=)
c.1119G>C (p.Gly373=)
c.1053G>C (p.Gly351=)
c.993G>C (p.Gly331=)
c.1086G>C (p.Gly362=)
n.2472G>C
n.2913G>C
c.987G>C (p.Gly329=)
c.954G>C (p.Gly318=)
c.927G>C (p.Gly309=)
c.894G>C (p.Gly298=)
c.861G>C (p.Gly287=)
4g.76112465G=CA1469471043ART3,NUP54c.1149G= (p.Gly383=)
c.*1472C= (n.*1472C=)
c.1017G= (p.Gly339=)
c.1116G= (p.Gly372=)
c.1050G= (p.Gly350=)
c.1083G= (p.Gly361=)
n.251G=
n.347G=
n.314G=
n.556G=
n.658G=
c.1020G= (p.Gly340=)
c.1119G= (p.Gly373=)
c.1053G= (p.Gly351=)
c.993G= (p.Gly331=)
c.1086G= (p.Gly362=)
n.2472G=
n.2913G=
c.987G= (p.Gly329=)
c.954G= (p.Gly318=)
c.927G= (p.Gly309=)
c.894G= (p.Gly298=)
c.861G= (p.Gly287=)
4g.76112465G>TCA99882542ART3,NUP54c.1149G>T (p.Gly383=)
c.*1472C>A (n.*1472C>A)
c.1017G>T (p.Gly339=)
c.1116G>T (p.Gly372=)
c.1050G>T (p.Gly350=)
c.1083G>T (p.Gly361=)
n.251G>T
n.347G>T
n.314G>T
n.556G>T
n.658G>T
c.1020G>T (p.Gly340=)
c.1119G>T (p.Gly373=)
c.1053G>T (p.Gly351=)
c.993G>T (p.Gly331=)
c.1086G>T (p.Gly362=)
n.2472G>T
n.2913G>T
c.987G>T (p.Gly329=)
c.954G>T (p.Gly318=)
c.927G>T (p.Gly309=)
c.894G>T (p.Gly298=)
c.861G>T (p.Gly287=)
 dbSNP gnomAD v4
4g.76112466A>CCA357317198ART3,NUP54c.1150A>C (p.Met384Leu)
c.*1471T>G (n.*1471T>G)
c.1018A>C (p.Met340Leu)
c.1117A>C (p.Met373Leu)
c.1051A>C (p.Met351Leu)
c.1084A>C (p.Met362Leu)
n.252A>C
n.348A>C
n.315A>C
n.557A>C
n.659A>C
c.1021A>C (p.Met341Leu)
c.1120A>C (p.Met374Leu)
c.1054A>C (p.Met352Leu)
c.994A>C (p.Met332Leu)
c.1087A>C (p.Met363Leu)
n.2473A>C
n.2914A>C
c.988A>C (p.Met330Leu)
c.955A>C (p.Met319Leu)
c.928A>C (p.Met310Leu)
c.895A>C (p.Met299Leu)
c.862A>C (p.Met288Leu)
4g.76112466A>GCA357317199ART3,NUP54c.1150A>G (p.Met384Val)
c.*1471T>C (n.*1471T>C)
c.1018A>G (p.Met340Val)
c.1117A>G (p.Met373Val)
c.1051A>G (p.Met351Val)
c.1084A>G (p.Met362Val)
n.252A>G
n.348A>G
n.315A>G
n.557A>G
n.659A>G
c.1021A>G (p.Met341Val)
c.1120A>G (p.Met374Val)
c.1054A>G (p.Met352Val)
c.994A>G (p.Met332Val)
c.1087A>G (p.Met363Val)
n.2473A>G
n.2914A>G
c.988A>G (p.Met330Val)
c.955A>G (p.Met319Val)
c.928A>G (p.Met310Val)
c.895A>G (p.Met299Val)
c.862A>G (p.Met288Val)
4g.76112466A>TCA357317200ART3,NUP54c.1150A>T (p.Met384Leu)
c.*1471T>A (n.*1471T>A)
c.1018A>T (p.Met340Leu)
c.1117A>T (p.Met373Leu)
c.1051A>T (p.Met351Leu)
c.1084A>T (p.Met362Leu)
n.252A>T
n.348A>T
n.315A>T
n.557A>T
n.659A>T
c.1021A>T (p.Met341Leu)
c.1120A>T (p.Met374Leu)
c.1054A>T (p.Met352Leu)
c.994A>T (p.Met332Leu)
c.1087A>T (p.Met363Leu)
n.2473A>T
n.2914A>T
c.988A>T (p.Met330Leu)
c.955A>T (p.Met319Leu)
c.928A>T (p.Met310Leu)
c.895A>T (p.Met299Leu)
c.862A>T (p.Met288Leu)
4g.76112467T>ACA357317201ART3,NUP54c.1151T>A (p.Met384Lys)
c.*1470A>T (n.*1470A>T)
c.1019T>A (p.Met340Lys)
c.1118T>A (p.Met373Lys)
c.1052T>A (p.Met351Lys)
c.1085T>A (p.Met362Lys)
n.253T>A
n.349T>A
n.316T>A
n.558T>A
n.660T>A
c.1022T>A (p.Met341Lys)
c.1121T>A (p.Met374Lys)
c.1055T>A (p.Met352Lys)
c.995T>A (p.Met332Lys)
c.1088T>A (p.Met363Lys)
n.2474T>A
n.2915T>A
c.989T>A (p.Met330Lys)
c.956T>A (p.Met319Lys)
c.929T>A (p.Met310Lys)
c.896T>A (p.Met299Lys)
c.863T>A (p.Met288Lys)
4g.76112467T>CCA357317202ART3,NUP54c.1151T>C (p.Met384Thr)
c.*1470A>G (n.*1470A>G)
c.1019T>C (p.Met340Thr)
c.1118T>C (p.Met373Thr)
c.1052T>C (p.Met351Thr)
c.1085T>C (p.Met362Thr)
n.253T>C
n.349T>C
n.316T>C
n.558T>C
n.660T>C
c.1022T>C (p.Met341Thr)
c.1121T>C (p.Met374Thr)
c.1055T>C (p.Met352Thr)
c.995T>C (p.Met332Thr)
c.1088T>C (p.Met363Thr)
n.2474T>C
n.2915T>C
c.989T>C (p.Met330Thr)
c.956T>C (p.Met319Thr)
c.929T>C (p.Met310Thr)
c.896T>C (p.Met299Thr)
c.863T>C (p.Met288Thr)
4g.76112467T>GCA357317203ART3,NUP54c.1151T>G (p.Met384Arg)
c.*1470A>C (n.*1470A>C)
c.1019T>G (p.Met340Arg)
c.1118T>G (p.Met373Arg)
c.1052T>G (p.Met351Arg)
c.1085T>G (p.Met362Arg)
n.253T>G
n.349T>G
n.316T>G
n.558T>G
n.660T>G
c.1022T>G (p.Met341Arg)
c.1121T>G (p.Met374Arg)
c.1055T>G (p.Met352Arg)
c.995T>G (p.Met332Arg)
c.1088T>G (p.Met363Arg)
n.2474T>G
n.2915T>G
c.989T>G (p.Met330Arg)
c.956T>G (p.Met319Arg)
c.929T>G (p.Met310Arg)
c.896T>G (p.Met299Arg)
c.863T>G (p.Met288Arg)
4g.76112467_76112473delCA2578118482ART3,NUP54c.1151_1157del (p.Met384ThrfsTer3)
c.*1464_*1470del (n.*1464_*1470del)
c.1019_1025del (p.Met340ThrfsTer3)
c.1118_1124del (p.Met373ThrfsTer3)
c.1052_1058del (p.Met351ThrfsTer3)
c.1085_1091del (p.Met362ThrfsTer3)
n.253_259del
n.349_355del
n.316_322del
n.558_564del
n.660_666del
c.1022_1028del (p.Met341ThrfsTer3)
c.1121_1127del (p.Met374ThrfsTer3)
c.1055_1061del (p.Met352ThrfsTer3)
c.995_1001del (p.Met332ThrfsTer3)
c.1088_1094del (p.Met363ThrfsTer3)
n.2474_2480del
n.2915_2921del
c.989_995del (p.Met330ThrfsTer3)
c.956_962del (p.Met319ThrfsTer3)
c.929_935del (p.Met310ThrfsTer3)
c.896_902del (p.Met299ThrfsTer3)
c.863_869del (p.Met288ThrfsTer3)
4g.76112468G>ACA357317204ART3,NUP54c.1152G>A (p.Met384Ile)
c.*1469C>T (n.*1469C>T)
c.1020G>A (p.Met340Ile)
c.1119G>A (p.Met373Ile)
c.1053G>A (p.Met351Ile)
c.1086G>A (p.Met362Ile)
n.254G>A
n.350G>A
n.317G>A
n.559G>A
n.661G>A
c.1023G>A (p.Met341Ile)
c.1122G>A (p.Met374Ile)
c.1056G>A (p.Met352Ile)
c.996G>A (p.Met332Ile)
c.1089G>A (p.Met363Ile)
n.2475G>A
n.2916G>A
c.990G>A (p.Met330Ile)
c.957G>A (p.Met319Ile)
c.930G>A (p.Met310Ile)
c.897G>A (p.Met299Ile)
c.864G>A (p.Met288Ile)
4g.76112468G>CCA357317205ART3,NUP54c.1152G>C (p.Met384Ile)
c.*1469C>G (n.*1469C>G)
c.1020G>C (p.Met340Ile)
c.1119G>C (p.Met373Ile)
c.1053G>C (p.Met351Ile)
c.1086G>C (p.Met362Ile)
n.254G>C
n.350G>C
n.317G>C
n.559G>C
n.661G>C
c.1023G>C (p.Met341Ile)
c.1122G>C (p.Met374Ile)
c.1056G>C (p.Met352Ile)
c.996G>C (p.Met332Ile)
c.1089G>C (p.Met363Ile)
n.2475G>C
n.2916G>C
c.990G>C (p.Met330Ile)
c.957G>C (p.Met319Ile)
c.930G>C (p.Met310Ile)
c.897G>C (p.Met299Ile)
c.864G>C (p.Met288Ile)
 gnomAD v4
4g.76112468G=CA1469471048ART3,NUP54c.1152G= (p.Met384=)
c.*1469C= (n.*1469C=)
c.1020G= (p.Met340=)
c.1119G= (p.Met373=)
c.1053G= (p.Met351=)
c.1086G= (p.Met362=)
n.254G=
n.350G=
n.317G=
n.559G=
n.661G=
c.1023G= (p.Met341=)
c.1122G= (p.Met374=)
c.1056G= (p.Met352=)
c.996G= (p.Met332=)
c.1089G= (p.Met363=)
n.2475G=
n.2916G=
c.990G= (p.Met330=)
c.957G= (p.Met319=)
c.930G= (p.Met310=)
c.897G= (p.Met299=)
c.864G= (p.Met288=)
4g.76112468G>TCA357317206ART3,NUP54c.1152G>T (p.Met384Ile)
c.*1469C>A (n.*1469C>A)
c.1020G>T (p.Met340Ile)
c.1119G>T (p.Met373Ile)
c.1053G>T (p.Met351Ile)
c.1086G>T (p.Met362Ile)
n.254G>T
n.350G>T
n.317G>T
n.559G>T
n.661G>T
c.1023G>T (p.Met341Ile)
c.1122G>T (p.Met374Ile)
c.1056G>T (p.Met352Ile)
c.996G>T (p.Met332Ile)
c.1089G>T (p.Met363Ile)
n.2475G>T
n.2916G>T
c.990G>T (p.Met330Ile)
c.957G>T (p.Met319Ile)
c.930G>T (p.Met310Ile)
c.897G>T (p.Met299Ile)
c.864G>T (p.Met288Ile)
 dbSNP
4g.76112469G>ACA357317208ART3,NUP54c.1153G>A (p.Val385Ile)
c.*1468C>T (n.*1468C>T)
c.1021G>A (p.Val341Ile)
c.1120G>A (p.Val374Ile)
c.1054G>A (p.Val352Ile)
c.1087G>A (p.Val363Ile)
n.255G>A
n.351G>A
n.318G>A
n.560G>A
n.662G>A
c.1024G>A (p.Val342Ile)
c.1123G>A (p.Val375Ile)
c.1057G>A (p.Val353Ile)
c.997G>A (p.Val333Ile)
c.1090G>A (p.Val364Ile)
n.2476G>A
n.2917G>A
c.991G>A (p.Val331Ile)
c.958G>A (p.Val320Ile)
c.931G>A (p.Val311Ile)
c.898G>A (p.Val300Ile)
c.865G>A (p.Val289Ile)
 gnomAD v4
4g.76112469G>CCA357317209ART3,NUP54c.1153G>C (p.Val385Leu)
c.*1468C>G (n.*1468C>G)
c.1021G>C (p.Val341Leu)
c.1120G>C (p.Val374Leu)
c.1054G>C (p.Val352Leu)
c.1087G>C (p.Val363Leu)
n.255G>C
n.351G>C
n.318G>C
n.560G>C
n.662G>C
c.1024G>C (p.Val342Leu)
c.1123G>C (p.Val375Leu)
c.1057G>C (p.Val353Leu)
c.997G>C (p.Val333Leu)
c.1090G>C (p.Val364Leu)
n.2476G>C
n.2917G>C
c.991G>C (p.Val331Leu)
c.958G>C (p.Val320Leu)
c.931G>C (p.Val311Leu)
c.898G>C (p.Val300Leu)
c.865G>C (p.Val289Leu)
4g.76112469G>TCA357317207ART3,NUP54c.1153G>T (p.Val385Phe)
c.*1468C>A (n.*1468C>A)
c.1021G>T (p.Val341Phe)
c.1120G>T (p.Val374Phe)
c.1054G>T (p.Val352Phe)
c.1087G>T (p.Val363Phe)
n.255G>T
n.351G>T
n.318G>T
n.560G>T
n.662G>T
c.1024G>T (p.Val342Phe)
c.1123G>T (p.Val375Phe)
c.1057G>T (p.Val353Phe)
c.997G>T (p.Val333Phe)
c.1090G>T (p.Val364Phe)
n.2476G>T
n.2917G>T
c.991G>T (p.Val331Phe)
c.958G>T (p.Val320Phe)
c.931G>T (p.Val311Phe)
c.898G>T (p.Val300Phe)
c.865G>T (p.Val289Phe)
4g.76112469_76112472delinsGTCACA1469471051ART3,NUP54c.1153_1156delinsGTCA (p.Val385=)
c.*1465_*1468delinsTGAC (n.*1465_*1468delinsTGAC)
c.1021_1024delinsGTCA (p.Val341=)
c.1120_1123delinsGTCA (p.Val374=)
c.1054_1057delinsGTCA (p.Val352=)
c.1087_1090delinsGTCA (p.Val363=)
n.255_258delinsGTCA
n.351_354delinsGTCA
n.318_321delinsGTCA
n.560_563delinsGTCA
n.662_665delinsGTCA
c.1024_1027delinsGTCA (p.Val342=)
c.1123_1126delinsGTCA (p.Val375=)
c.1057_1060delinsGTCA (p.Val353=)
c.997_1000delinsGTCA (p.Val333=)
c.1090_1093delinsGTCA (p.Val364=)
n.2476_2479delinsGTCA
n.2917_2920delinsGTCA
c.991_994delinsGTCA (p.Val331=)
c.958_961delinsGTCA (p.Val320=)
c.931_934delinsGTCA (p.Val311=)
c.898_901delinsGTCA (p.Val300=)
c.865_868delinsGTCA (p.Val289=)
4g.76112470T>ACA357317212ART3,NUP54c.1154T>A (p.Val385Asp)
c.*1467A>T (n.*1467A>T)
c.1022T>A (p.Val341Asp)
c.1121T>A (p.Val374Asp)
c.1055T>A (p.Val352Asp)
c.1088T>A (p.Val363Asp)
n.256T>A
n.352T>A
n.319T>A
n.561T>A
n.663T>A
c.1025T>A (p.Val342Asp)
c.1124T>A (p.Val375Asp)
c.1058T>A (p.Val353Asp)
c.998T>A (p.Val333Asp)
c.1091T>A (p.Val364Asp)
n.2477T>A
n.2918T>A
c.992T>A (p.Val331Asp)
c.959T>A (p.Val320Asp)
c.932T>A (p.Val311Asp)
c.899T>A (p.Val300Asp)
c.866T>A (p.Val289Asp)
4g.76112470T>CCA357317210ART3,NUP54c.1154T>C (p.Val385Ala)
c.*1467A>G (n.*1467A>G)
c.1022T>C (p.Val341Ala)
c.1121T>C (p.Val374Ala)
c.1055T>C (p.Val352Ala)
c.1088T>C (p.Val363Ala)
n.256T>C
n.352T>C
n.319T>C
n.561T>C
n.663T>C
c.1025T>C (p.Val342Ala)
c.1124T>C (p.Val375Ala)
c.1058T>C (p.Val353Ala)
c.998T>C (p.Val333Ala)
c.1091T>C (p.Val364Ala)
n.2477T>C
n.2918T>C
c.992T>C (p.Val331Ala)
c.959T>C (p.Val320Ala)
c.932T>C (p.Val311Ala)
c.899T>C (p.Val300Ala)
c.866T>C (p.Val289Ala)
4g.76112470T>GCA357317211ART3,NUP54c.1154T>G (p.Val385Gly)
c.*1467A>C (n.*1467A>C)
c.1022T>G (p.Val341Gly)
c.1121T>G (p.Val374Gly)
c.1055T>G (p.Val352Gly)
c.1088T>G (p.Val363Gly)
n.256T>G
n.352T>G
n.319T>G
n.561T>G
n.663T>G
c.1025T>G (p.Val342Gly)
c.1124T>G (p.Val375Gly)
c.1058T>G (p.Val353Gly)
c.998T>G (p.Val333Gly)
c.1091T>G (p.Val364Gly)
n.2477T>G
n.2918T>G
c.992T>G (p.Val331Gly)
c.959T>G (p.Val320Gly)
c.932T>G (p.Val311Gly)
c.899T>G (p.Val300Gly)
c.866T>G (p.Val289Gly)
 dbSNP
4g.76112474_76112476delCA2969591ART3,NUP54c.1158_1160del (p.Ile387del)
c.*1465_*1467del (n.*1465_*1467del)
c.1026_1028del (p.Ile343del)
c.1125_1127del (p.Ile376del)
c.1059_1061del (p.Ile354del)
c.1092_1094del (p.Ile365del)
n.260_262del
n.356_358del
n.323_325del
n.565_567del
n.667_669del
c.1029_1031del (p.Ile344del)
c.1128_1130del (p.Ile377del)
c.1062_1064del (p.Ile355del)
c.1002_1004del (p.Ile335del)
c.1095_1097del (p.Ile366del)
n.2481_2483del
n.2922_2924del
c.996_998del (p.Ile333del)
c.963_965del (p.Ile322del)
c.936_938del (p.Ile313del)
c.903_905del (p.Ile302del)
c.870_872del (p.Ile291del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112471C>ACA439956026ART3,NUP54c.1155C>A (p.Val385=)
c.*1466G>T (n.*1466G>T)
c.1023C>A (p.Val341=)
c.1122C>A (p.Val374=)
c.1056C>A (p.Val352=)
c.1089C>A (p.Val363=)
n.257C>A
n.353C>A
n.320C>A
n.562C>A
n.664C>A
c.1026C>A (p.Val342=)
c.1125C>A (p.Val375=)
c.1059C>A (p.Val353=)
c.999C>A (p.Val333=)
c.1092C>A (p.Val364=)
n.2478C>A
n.2919C>A
c.993C>A (p.Val331=)
c.960C>A (p.Val320=)
c.933C>A (p.Val311=)
c.900C>A (p.Val300=)
c.867C>A (p.Val289=)
4g.76112471C=CA1469471055ART3,NUP54c.1155C= (p.Val385=)
c.*1466G= (n.*1466G=)
c.1023C= (p.Val341=)
c.1122C= (p.Val374=)
c.1056C= (p.Val352=)
c.1089C= (p.Val363=)
n.257C=
n.353C=
n.320C=
n.562C=
n.664C=
c.1026C= (p.Val342=)
c.1125C= (p.Val375=)
c.1059C= (p.Val353=)
c.999C= (p.Val333=)
c.1092C= (p.Val364=)
n.2478C=
n.2919C=
c.993C= (p.Val331=)
c.960C= (p.Val320=)
c.933C= (p.Val311=)
c.900C= (p.Val300=)
c.867C= (p.Val289=)
4g.76112471C>GCA439956028ART3,NUP54c.1155C>G (p.Val385=)
c.*1466G>C (n.*1466G>C)
c.1023C>G (p.Val341=)
c.1122C>G (p.Val374=)
c.1056C>G (p.Val352=)
c.1089C>G (p.Val363=)
n.257C>G
n.353C>G
n.320C>G
n.562C>G
n.664C>G
c.1026C>G (p.Val342=)
c.1125C>G (p.Val375=)
c.1059C>G (p.Val353=)
c.999C>G (p.Val333=)
c.1092C>G (p.Val364=)
n.2478C>G
n.2919C>G
c.993C>G (p.Val331=)
c.960C>G (p.Val320=)
c.933C>G (p.Val311=)
c.900C>G (p.Val300=)
c.867C>G (p.Val289=)
 gnomAD v4
4g.76112471C>TCA439956029ART3,NUP54c.1155C>T (p.Val385=)
c.*1466G>A (n.*1466G>A)
c.1023C>T (p.Val341=)
c.1122C>T (p.Val374=)
c.1056C>T (p.Val352=)
c.1089C>T (p.Val363=)
n.257C>T
n.353C>T
n.320C>T
n.562C>T
n.664C>T
c.1026C>T (p.Val342=)
c.1125C>T (p.Val375=)
c.1059C>T (p.Val353=)
c.999C>T (p.Val333=)
c.1092C>T (p.Val364=)
n.2478C>T
n.2919C>T
c.993C>T (p.Val331=)
c.960C>T (p.Val320=)
c.933C>T (p.Val311=)
c.900C>T (p.Val300=)
c.867C>T (p.Val289=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.76112472delCA2671060518ART3,NUP54c.1156del (p.Ile386SerfsTer3)
c.*1465del (n.*1465del)
c.1024del (p.Ile342SerfsTer3)
c.1123del (p.Ile375SerfsTer3)
c.1057del (p.Ile353SerfsTer3)
c.1090del (p.Ile364SerfsTer3)
n.258del
n.354del
n.321del
n.563del
n.665del
c.1027del (p.Ile343SerfsTer3)
c.1126del (p.Ile376SerfsTer3)
c.1060del (p.Ile354SerfsTer3)
c.1000del (p.Ile334SerfsTer3)
c.1093del (p.Ile365SerfsTer3)
n.2479del
n.2920del
c.994del (p.Ile332SerfsTer3)
c.961del (p.Ile321SerfsTer3)
c.934del (p.Ile312SerfsTer3)
c.901del (p.Ile301SerfsTer3)
c.868del (p.Ile290SerfsTer3)
 gnomAD v4
4g.76112472A>CCA357317213ART3,NUP54c.1156A>C (p.Ile386Leu)
c.*1465T>G (n.*1465T>G)
c.1024A>C (p.Ile342Leu)
c.1123A>C (p.Ile375Leu)
c.1057A>C (p.Ile353Leu)
c.1090A>C (p.Ile364Leu)
n.258A>C
n.354A>C
n.321A>C
n.563A>C
n.665A>C
c.1027A>C (p.Ile343Leu)
c.1126A>C (p.Ile376Leu)
c.1060A>C (p.Ile354Leu)
c.1000A>C (p.Ile334Leu)
c.1093A>C (p.Ile365Leu)
n.2479A>C
n.2920A>C
c.994A>C (p.Ile332Leu)
c.961A>C (p.Ile321Leu)
c.934A>C (p.Ile312Leu)
c.901A>C (p.Ile301Leu)
c.868A>C (p.Ile290Leu)
4g.76112472A>GCA357317214ART3,NUP54c.1156A>G (p.Ile386Val)
c.*1465T>C (n.*1465T>C)
c.1024A>G (p.Ile342Val)
c.1123A>G (p.Ile375Val)
c.1057A>G (p.Ile353Val)
c.1090A>G (p.Ile364Val)
n.258A>G
n.354A>G
n.321A>G
n.563A>G
n.665A>G
c.1027A>G (p.Ile343Val)
c.1126A>G (p.Ile376Val)
c.1060A>G (p.Ile354Val)
c.1000A>G (p.Ile334Val)
c.1093A>G (p.Ile365Val)
n.2479A>G
n.2920A>G
c.994A>G (p.Ile332Val)
c.961A>G (p.Ile321Val)
c.934A>G (p.Ile312Val)
c.901A>G (p.Ile301Val)
c.868A>G (p.Ile290Val)
4g.76112472A>TCA357317215ART3,NUP54c.1156A>T (p.Ile386Phe)
c.*1465T>A (n.*1465T>A)
c.1024A>T (p.Ile342Phe)
c.1123A>T (p.Ile375Phe)
c.1057A>T (p.Ile353Phe)
c.1090A>T (p.Ile364Phe)
n.258A>T
n.354A>T
n.321A>T
n.563A>T
n.665A>T
c.1027A>T (p.Ile343Phe)
c.1126A>T (p.Ile376Phe)
c.1060A>T (p.Ile354Phe)
c.1000A>T (p.Ile334Phe)
c.1093A>T (p.Ile365Phe)
n.2479A>T
n.2920A>T
c.994A>T (p.Ile332Phe)
c.961A>T (p.Ile321Phe)
c.934A>T (p.Ile312Phe)
c.901A>T (p.Ile301Phe)
c.868A>T (p.Ile290Phe)
4g.76112473T>ACA357317216ART3,NUP54c.1157T>A (p.Ile386Asn)
c.*1464A>T (n.*1464A>T)
c.1025T>A (p.Ile342Asn)
c.1124T>A (p.Ile375Asn)
c.1058T>A (p.Ile353Asn)
c.1091T>A (p.Ile364Asn)
n.259T>A
n.355T>A
n.322T>A
n.564T>A
n.666T>A
c.1028T>A (p.Ile343Asn)
c.1127T>A (p.Ile376Asn)
c.1061T>A (p.Ile354Asn)
c.1001T>A (p.Ile334Asn)
c.1094T>A (p.Ile365Asn)
n.2480T>A
n.2921T>A
c.995T>A (p.Ile332Asn)
c.962T>A (p.Ile321Asn)
c.935T>A (p.Ile312Asn)
c.902T>A (p.Ile301Asn)
c.869T>A (p.Ile290Asn)
4g.76112473T>CCA357317217ART3,NUP54c.1157T>C (p.Ile386Thr)
c.*1464A>G (n.*1464A>G)
c.1025T>C (p.Ile342Thr)
c.1124T>C (p.Ile375Thr)
c.1058T>C (p.Ile353Thr)
c.1091T>C (p.Ile364Thr)
n.259T>C
n.355T>C
n.322T>C
n.564T>C
n.666T>C
c.1028T>C (p.Ile343Thr)
c.1127T>C (p.Ile376Thr)
c.1061T>C (p.Ile354Thr)
c.1001T>C (p.Ile334Thr)
c.1094T>C (p.Ile365Thr)
n.2480T>C
n.2921T>C
c.995T>C (p.Ile332Thr)
c.962T>C (p.Ile321Thr)
c.935T>C (p.Ile312Thr)
c.902T>C (p.Ile301Thr)
c.869T>C (p.Ile290Thr)
4g.76112473T>GCA357317218ART3,NUP54c.1157T>G (p.Ile386Ser)
c.*1464A>C (n.*1464A>C)
c.1025T>G (p.Ile342Ser)
c.1124T>G (p.Ile375Ser)
c.1058T>G (p.Ile353Ser)
c.1091T>G (p.Ile364Ser)
n.259T>G
n.355T>G
n.322T>G
n.564T>G
n.666T>G
c.1028T>G (p.Ile343Ser)
c.1127T>G (p.Ile376Ser)
c.1061T>G (p.Ile354Ser)
c.1001T>G (p.Ile334Ser)
c.1094T>G (p.Ile365Ser)
n.2480T>G
n.2921T>G
c.995T>G (p.Ile332Ser)
c.962T>G (p.Ile321Ser)
c.935T>G (p.Ile312Ser)
c.902T>G (p.Ile301Ser)
c.869T>G (p.Ile290Ser)
4g.76112474C>ACA439956030ART3,NUP54c.1158C>A (p.Ile386=)
c.*1463G>T (n.*1463G>T)
c.1026C>A (p.Ile342=)
c.1125C>A (p.Ile375=)
c.1059C>A (p.Ile353=)
c.1092C>A (p.Ile364=)
n.260C>A
n.356C>A
n.323C>A
n.565C>A
n.667C>A
c.1029C>A (p.Ile343=)
c.1128C>A (p.Ile376=)
c.1062C>A (p.Ile354=)
c.1002C>A (p.Ile334=)
c.1095C>A (p.Ile365=)
n.2481C>A
n.2922C>A
c.996C>A (p.Ile332=)
c.963C>A (p.Ile321=)
c.936C>A (p.Ile312=)
c.903C>A (p.Ile301=)
c.870C>A (p.Ile290=)
4g.76112474C>GCA357317219ART3,NUP54c.1158C>G (p.Ile386Met)
c.*1463G>C (n.*1463G>C)
c.1026C>G (p.Ile342Met)
c.1125C>G (p.Ile375Met)
c.1059C>G (p.Ile353Met)
c.1092C>G (p.Ile364Met)
n.260C>G
n.356C>G
n.323C>G
n.565C>G
n.667C>G
c.1029C>G (p.Ile343Met)
c.1128C>G (p.Ile376Met)
c.1062C>G (p.Ile354Met)
c.1002C>G (p.Ile334Met)
c.1095C>G (p.Ile365Met)
n.2481C>G
n.2922C>G
c.996C>G (p.Ile332Met)
c.963C>G (p.Ile321Met)
c.936C>G (p.Ile312Met)
c.903C>G (p.Ile301Met)
c.870C>G (p.Ile290Met)
 gnomAD v4
4g.76112474C>TCA439956031ART3,NUP54c.1158C>T (p.Ile386=)
c.*1463G>A (n.*1463G>A)
c.1026C>T (p.Ile342=)
c.1125C>T (p.Ile375=)
c.1059C>T (p.Ile353=)
c.1092C>T (p.Ile364=)
n.260C>T
n.356C>T
n.323C>T
n.565C>T
n.667C>T
c.1029C>T (p.Ile343=)
c.1128C>T (p.Ile376=)
c.1062C>T (p.Ile354=)
c.1002C>T (p.Ile334=)
c.1095C>T (p.Ile365=)
n.2481C>T
n.2922C>T
c.996C>T (p.Ile332=)
c.963C>T (p.Ile321=)
c.936C>T (p.Ile312=)
c.903C>T (p.Ile301=)
c.870C>T (p.Ile290=)
 COSMIC

Number of alleles fetched