Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53533979A=CA2429868872HUWE1c.12806+28T= (n.12806+28T=)
c.13022+28T= (n.13022+28T=)
c.3489+28T=
n.363T=
c.12995+28T= (n.12995+28T=)
c.13271+28T= (n.13271+28T=)
c.13268+28T= (n.13268+28T=)
c.13226+28T= (n.13226+28T=)
c.13223+28T= (n.13223+28T=)
c.13220+28T= (n.13220+28T=)
c.13172+28T= (n.13172+28T=)
c.12869+28T= (n.12869+28T=)
c.13403+28T= (n.13403+28T=)
c.13400+28T= (n.13400+28T=)
c.13382+28T= (n.13382+28T=)
c.13358+28T= (n.13358+28T=)
c.13355+28T= (n.13355+28T=)
c.13352+28T= (n.13352+28T=)
c.13304+28T= (n.13304+28T=)
c.13292+28T= (n.13292+28T=)
c.13154+28T= (n.13154+28T=)
c.13001+28T= (n.13001+28T=)
Xg.53533979A>CCA10421100HUWE1c.12806+28T>G (n.12806+28T>G)
c.13022+28T>G (n.13022+28T>G)
c.3489+28T>G
n.363T>G
c.12995+28T>G (n.12995+28T>G)
c.13271+28T>G (n.13271+28T>G)
c.13268+28T>G (n.13268+28T>G)
c.13226+28T>G (n.13226+28T>G)
c.13223+28T>G (n.13223+28T>G)
c.13220+28T>G (n.13220+28T>G)
c.13172+28T>G (n.13172+28T>G)
c.12869+28T>G (n.12869+28T>G)
c.13403+28T>G (n.13403+28T>G)
c.13400+28T>G (n.13400+28T>G)
c.13382+28T>G (n.13382+28T>G)
c.13358+28T>G (n.13358+28T>G)
c.13355+28T>G (n.13355+28T>G)
c.13352+28T>G (n.13352+28T>G)
c.13304+28T>G (n.13304+28T>G)
c.13292+28T>G (n.13292+28T>G)
c.13154+28T>G (n.13154+28T>G)
c.13001+28T>G (n.13001+28T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53533982dupCA10421098HUWE1c.12806+28dup (n.12806+28dup)
c.13022+28dup (n.13022+28dup)
c.3489+28dup
n.363dup
c.12995+28dup (n.12995+28dup)
c.13271+28dup (n.13271+28dup)
c.13268+28dup (n.13268+28dup)
c.13226+28dup (n.13226+28dup)
c.13223+28dup (n.13223+28dup)
c.13220+28dup (n.13220+28dup)
c.13172+28dup (n.13172+28dup)
c.12869+28dup (n.12869+28dup)
c.13403+28dup (n.13403+28dup)
c.13400+28dup (n.13400+28dup)
c.13382+28dup (n.13382+28dup)
c.13358+28dup (n.13358+28dup)
c.13355+28dup (n.13355+28dup)
c.13352+28dup (n.13352+28dup)
c.13304+28dup (n.13304+28dup)
c.13292+28dup (n.13292+28dup)
c.13154+28dup (n.13154+28dup)
c.13001+28dup (n.13001+28dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53533982delCA2693810234HUWE1c.12806+28del (n.12806+28del)
c.13022+28del (n.13022+28del)
c.3489+28del
n.363del
c.12995+28del (n.12995+28del)
c.13271+28del (n.13271+28del)
c.13268+28del (n.13268+28del)
c.13226+28del (n.13226+28del)
c.13223+28del (n.13223+28del)
c.13220+28del (n.13220+28del)
c.13172+28del (n.13172+28del)
c.12869+28del (n.12869+28del)
c.13403+28del (n.13403+28del)
c.13400+28del (n.13400+28del)
c.13382+28del (n.13382+28del)
c.13358+28del (n.13358+28del)
c.13355+28del (n.13355+28del)
c.13352+28del (n.13352+28del)
c.13304+28del (n.13304+28del)
c.13292+28del (n.13292+28del)
c.13154+28del (n.13154+28del)
c.13001+28del (n.13001+28del)
 gnomAD v4
Xg.53533980A=CA2429868873HUWE1c.12806+27T= (n.12806+27T=)
c.13022+27T= (n.13022+27T=)
c.3489+27T=
n.362T=
c.12995+27T= (n.12995+27T=)
c.13271+27T= (n.13271+27T=)
c.13268+27T= (n.13268+27T=)
c.13226+27T= (n.13226+27T=)
c.13223+27T= (n.13223+27T=)
c.13220+27T= (n.13220+27T=)
c.13172+27T= (n.13172+27T=)
c.12869+27T= (n.12869+27T=)
c.13403+27T= (n.13403+27T=)
c.13400+27T= (n.13400+27T=)
c.13382+27T= (n.13382+27T=)
c.13358+27T= (n.13358+27T=)
c.13355+27T= (n.13355+27T=)
c.13352+27T= (n.13352+27T=)
c.13304+27T= (n.13304+27T=)
c.13292+27T= (n.13292+27T=)
c.13154+27T= (n.13154+27T=)
c.13001+27T= (n.13001+27T=)
Xg.53533980A>GCA1133180435HUWE1c.12806+27T>C (n.12806+27T>C)
c.13022+27T>C (n.13022+27T>C)
c.3489+27T>C
n.362T>C
c.12995+27T>C (n.12995+27T>C)
c.13271+27T>C (n.13271+27T>C)
c.13268+27T>C (n.13268+27T>C)
c.13226+27T>C (n.13226+27T>C)
c.13223+27T>C (n.13223+27T>C)
c.13220+27T>C (n.13220+27T>C)
c.13172+27T>C (n.13172+27T>C)
c.12869+27T>C (n.12869+27T>C)
c.13403+27T>C (n.13403+27T>C)
c.13400+27T>C (n.13400+27T>C)
c.13382+27T>C (n.13382+27T>C)
c.13358+27T>C (n.13358+27T>C)
c.13355+27T>C (n.13355+27T>C)
c.13352+27T>C (n.13352+27T>C)
c.13304+27T>C (n.13304+27T>C)
c.13292+27T>C (n.13292+27T>C)
c.13154+27T>C (n.13154+27T>C)
c.13001+27T>C (n.13001+27T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.53533984G>ACA641551549HUWE1c.12806+23C>T (n.12806+23C>T)
c.13022+23C>T (n.13022+23C>T)
c.3489+23C>T
n.358C>T
c.12995+23C>T (n.12995+23C>T)
c.13271+23C>T (n.13271+23C>T)
c.13268+23C>T (n.13268+23C>T)
c.13226+23C>T (n.13226+23C>T)
c.13223+23C>T (n.13223+23C>T)
c.13220+23C>T (n.13220+23C>T)
c.13172+23C>T (n.13172+23C>T)
c.12869+23C>T (n.12869+23C>T)
c.13403+23C>T (n.13403+23C>T)
c.13400+23C>T (n.13400+23C>T)
c.13382+23C>T (n.13382+23C>T)
c.13358+23C>T (n.13358+23C>T)
c.13355+23C>T (n.13355+23C>T)
c.13352+23C>T (n.13352+23C>T)
c.13304+23C>T (n.13304+23C>T)
c.13292+23C>T (n.13292+23C>T)
c.13154+23C>T (n.13154+23C>T)
c.13001+23C>T (n.13001+23C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.53533984G>CCA2429868875HUWE1c.12806+23C>G (n.12806+23C>G)
c.13022+23C>G (n.13022+23C>G)
c.3489+23C>G
n.358C>G
c.12995+23C>G (n.12995+23C>G)
c.13271+23C>G (n.13271+23C>G)
c.13268+23C>G (n.13268+23C>G)
c.13226+23C>G (n.13226+23C>G)
c.13223+23C>G (n.13223+23C>G)
c.13220+23C>G (n.13220+23C>G)
c.13172+23C>G (n.13172+23C>G)
c.12869+23C>G (n.12869+23C>G)
c.13403+23C>G (n.13403+23C>G)
c.13400+23C>G (n.13400+23C>G)
c.13382+23C>G (n.13382+23C>G)
c.13358+23C>G (n.13358+23C>G)
c.13355+23C>G (n.13355+23C>G)
c.13352+23C>G (n.13352+23C>G)
c.13304+23C>G (n.13304+23C>G)
c.13292+23C>G (n.13292+23C>G)
c.13154+23C>G (n.13154+23C>G)
c.13001+23C>G (n.13001+23C>G)
 dbSNP
Xg.53533984G=CA2429868874HUWE1c.12806+23C= (n.12806+23C=)
c.13022+23C= (n.13022+23C=)
c.3489+23C=
n.358C=
c.12995+23C= (n.12995+23C=)
c.13271+23C= (n.13271+23C=)
c.13268+23C= (n.13268+23C=)
c.13226+23C= (n.13226+23C=)
c.13223+23C= (n.13223+23C=)
c.13220+23C= (n.13220+23C=)
c.13172+23C= (n.13172+23C=)
c.12869+23C= (n.12869+23C=)
c.13403+23C= (n.13403+23C=)
c.13400+23C= (n.13400+23C=)
c.13382+23C= (n.13382+23C=)
c.13358+23C= (n.13358+23C=)
c.13355+23C= (n.13355+23C=)
c.13352+23C= (n.13352+23C=)
c.13304+23C= (n.13304+23C=)
c.13292+23C= (n.13292+23C=)
c.13154+23C= (n.13154+23C=)
c.13001+23C= (n.13001+23C=)
Xg.53533984G>TCA2693810235HUWE1c.12806+23C>A (n.12806+23C>A)
c.13022+23C>A (n.13022+23C>A)
c.3489+23C>A
n.358C>A
c.12995+23C>A (n.12995+23C>A)
c.13271+23C>A (n.13271+23C>A)
c.13268+23C>A (n.13268+23C>A)
c.13226+23C>A (n.13226+23C>A)
c.13223+23C>A (n.13223+23C>A)
c.13220+23C>A (n.13220+23C>A)
c.13172+23C>A (n.13172+23C>A)
c.12869+23C>A (n.12869+23C>A)
c.13403+23C>A (n.13403+23C>A)
c.13400+23C>A (n.13400+23C>A)
c.13382+23C>A (n.13382+23C>A)
c.13358+23C>A (n.13358+23C>A)
c.13355+23C>A (n.13355+23C>A)
c.13352+23C>A (n.13352+23C>A)
c.13304+23C>A (n.13304+23C>A)
c.13292+23C>A (n.13292+23C>A)
c.13154+23C>A (n.13154+23C>A)
c.13001+23C>A (n.13001+23C>A)
 gnomAD v4
Xg.53533986G>ACA2693810236HUWE1c.12806+21C>T (n.12806+21C>T)
c.13022+21C>T (n.13022+21C>T)
c.3489+21C>T
n.356C>T
c.12995+21C>T (n.12995+21C>T)
c.13271+21C>T (n.13271+21C>T)
c.13268+21C>T (n.13268+21C>T)
c.13226+21C>T (n.13226+21C>T)
c.13223+21C>T (n.13223+21C>T)
c.13220+21C>T (n.13220+21C>T)
c.13172+21C>T (n.13172+21C>T)
c.12869+21C>T (n.12869+21C>T)
c.13403+21C>T (n.13403+21C>T)
c.13400+21C>T (n.13400+21C>T)
c.13382+21C>T (n.13382+21C>T)
c.13358+21C>T (n.13358+21C>T)
c.13355+21C>T (n.13355+21C>T)
c.13352+21C>T (n.13352+21C>T)
c.13304+21C>T (n.13304+21C>T)
c.13292+21C>T (n.13292+21C>T)
c.13154+21C>T (n.13154+21C>T)
c.13001+21C>T (n.13001+21C>T)
 gnomAD v4
Xg.53533986G>TCA2693810237HUWE1c.12806+21C>A (n.12806+21C>A)
c.13022+21C>A (n.13022+21C>A)
c.3489+21C>A
n.356C>A
c.12995+21C>A (n.12995+21C>A)
c.13271+21C>A (n.13271+21C>A)
c.13268+21C>A (n.13268+21C>A)
c.13226+21C>A (n.13226+21C>A)
c.13223+21C>A (n.13223+21C>A)
c.13220+21C>A (n.13220+21C>A)
c.13172+21C>A (n.13172+21C>A)
c.12869+21C>A (n.12869+21C>A)
c.13403+21C>A (n.13403+21C>A)
c.13400+21C>A (n.13400+21C>A)
c.13382+21C>A (n.13382+21C>A)
c.13358+21C>A (n.13358+21C>A)
c.13355+21C>A (n.13355+21C>A)
c.13352+21C>A (n.13352+21C>A)
c.13304+21C>A (n.13304+21C>A)
c.13292+21C>A (n.13292+21C>A)
c.13154+21C>A (n.13154+21C>A)
c.13001+21C>A (n.13001+21C>A)
 gnomAD v4
Xg.53533986_53533987delinsGACA2429868876HUWE1c.12806+20_12806+21delinsTC (n.12806+20_12806+21delinsTC)
c.13022+20_13022+21delinsTC (n.13022+20_13022+21delinsTC)
c.3489+20_3489+21delinsTC
n.355_356delinsTC
c.12995+20_12995+21delinsTC (n.12995+20_12995+21delinsTC)
c.13271+20_13271+21delinsTC (n.13271+20_13271+21delinsTC)
c.13268+20_13268+21delinsTC (n.13268+20_13268+21delinsTC)
c.13226+20_13226+21delinsTC (n.13226+20_13226+21delinsTC)
c.13223+20_13223+21delinsTC (n.13223+20_13223+21delinsTC)
c.13220+20_13220+21delinsTC (n.13220+20_13220+21delinsTC)
c.13172+20_13172+21delinsTC (n.13172+20_13172+21delinsTC)
c.12869+20_12869+21delinsTC (n.12869+20_12869+21delinsTC)
c.13403+20_13403+21delinsTC (n.13403+20_13403+21delinsTC)
c.13400+20_13400+21delinsTC (n.13400+20_13400+21delinsTC)
c.13382+20_13382+21delinsTC (n.13382+20_13382+21delinsTC)
c.13358+20_13358+21delinsTC (n.13358+20_13358+21delinsTC)
c.13355+20_13355+21delinsTC (n.13355+20_13355+21delinsTC)
c.13352+20_13352+21delinsTC (n.13352+20_13352+21delinsTC)
c.13304+20_13304+21delinsTC (n.13304+20_13304+21delinsTC)
c.13292+20_13292+21delinsTC (n.13292+20_13292+21delinsTC)
c.13154+20_13154+21delinsTC (n.13154+20_13154+21delinsTC)
c.13001+20_13001+21delinsTC (n.13001+20_13001+21delinsTC)
Xg.53533989delCA2429868877HUWE1c.12806+20del (n.12806+20del)
c.13022+20del (n.13022+20del)
c.3489+20del
n.355del
c.12995+20del (n.12995+20del)
c.13271+20del (n.13271+20del)
c.13268+20del (n.13268+20del)
c.13226+20del (n.13226+20del)
c.13223+20del (n.13223+20del)
c.13220+20del (n.13220+20del)
c.13172+20del (n.13172+20del)
c.12869+20del (n.12869+20del)
c.13403+20del (n.13403+20del)
c.13400+20del (n.13400+20del)
c.13382+20del (n.13382+20del)
c.13358+20del (n.13358+20del)
c.13355+20del (n.13355+20del)
c.13352+20del (n.13352+20del)
c.13304+20del (n.13304+20del)
c.13292+20del (n.13292+20del)
c.13154+20del (n.13154+20del)
c.13001+20del (n.13001+20del)
 dbSNP
Xg.53533990C=CA2429868878HUWE1c.12806+17G= (n.12806+17G=)
c.13022+17G= (n.13022+17G=)
c.3489+17G=
n.352G=
c.12995+17G= (n.12995+17G=)
c.13271+17G= (n.13271+17G=)
c.13268+17G= (n.13268+17G=)
c.13226+17G= (n.13226+17G=)
c.13223+17G= (n.13223+17G=)
c.13220+17G= (n.13220+17G=)
c.13172+17G= (n.13172+17G=)
c.12869+17G= (n.12869+17G=)
c.13403+17G= (n.13403+17G=)
c.13400+17G= (n.13400+17G=)
c.13382+17G= (n.13382+17G=)
c.13358+17G= (n.13358+17G=)
c.13355+17G= (n.13355+17G=)
c.13352+17G= (n.13352+17G=)
c.13304+17G= (n.13304+17G=)
c.13292+17G= (n.13292+17G=)
c.13154+17G= (n.13154+17G=)
c.13001+17G= (n.13001+17G=)
Xg.53533990C>GCA2542283417HUWE1c.12806+17G>C (n.12806+17G>C)
c.13022+17G>C (n.13022+17G>C)
c.3489+17G>C
n.352G>C
c.12995+17G>C (n.12995+17G>C)
c.13271+17G>C (n.13271+17G>C)
c.13268+17G>C (n.13268+17G>C)
c.13226+17G>C (n.13226+17G>C)
c.13223+17G>C (n.13223+17G>C)
c.13220+17G>C (n.13220+17G>C)
c.13172+17G>C (n.13172+17G>C)
c.12869+17G>C (n.12869+17G>C)
c.13403+17G>C (n.13403+17G>C)
c.13400+17G>C (n.13400+17G>C)
c.13382+17G>C (n.13382+17G>C)
c.13358+17G>C (n.13358+17G>C)
c.13355+17G>C (n.13355+17G>C)
c.13352+17G>C (n.13352+17G>C)
c.13304+17G>C (n.13304+17G>C)
c.13292+17G>C (n.13292+17G>C)
c.13154+17G>C (n.13154+17G>C)
c.13001+17G>C (n.13001+17G>C)
 ClinVar gnomAD v4
Xg.53533990C>TCA10421101HUWE1c.12806+17G>A (n.12806+17G>A)
c.13022+17G>A (n.13022+17G>A)
c.3489+17G>A
n.352G>A
c.12995+17G>A (n.12995+17G>A)
c.13271+17G>A (n.13271+17G>A)
c.13268+17G>A (n.13268+17G>A)
c.13226+17G>A (n.13226+17G>A)
c.13223+17G>A (n.13223+17G>A)
c.13220+17G>A (n.13220+17G>A)
c.13172+17G>A (n.13172+17G>A)
c.12869+17G>A (n.12869+17G>A)
c.13403+17G>A (n.13403+17G>A)
c.13400+17G>A (n.13400+17G>A)
c.13382+17G>A (n.13382+17G>A)
c.13358+17G>A (n.13358+17G>A)
c.13355+17G>A (n.13355+17G>A)
c.13352+17G>A (n.13352+17G>A)
c.13304+17G>A (n.13304+17G>A)
c.13292+17G>A (n.13292+17G>A)
c.13154+17G>A (n.13154+17G>A)
c.13001+17G>A (n.13001+17G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53533992A=CA2429868879HUWE1c.12806+15T= (n.12806+15T=)
c.13022+15T= (n.13022+15T=)
c.3489+15T=
n.350T=
c.12995+15T= (n.12995+15T=)
c.13271+15T= (n.13271+15T=)
c.13268+15T= (n.13268+15T=)
c.13226+15T= (n.13226+15T=)
c.13223+15T= (n.13223+15T=)
c.13220+15T= (n.13220+15T=)
c.13172+15T= (n.13172+15T=)
c.12869+15T= (n.12869+15T=)
c.13403+15T= (n.13403+15T=)
c.13400+15T= (n.13400+15T=)
c.13382+15T= (n.13382+15T=)
c.13358+15T= (n.13358+15T=)
c.13355+15T= (n.13355+15T=)
c.13352+15T= (n.13352+15T=)
c.13304+15T= (n.13304+15T=)
c.13292+15T= (n.13292+15T=)
c.13154+15T= (n.13154+15T=)
c.13001+15T= (n.13001+15T=)
Xg.53533992A>GCA10421102HUWE1c.12806+15T>C (n.12806+15T>C)
c.13022+15T>C (n.13022+15T>C)
c.3489+15T>C
n.350T>C
c.12995+15T>C (n.12995+15T>C)
c.13271+15T>C (n.13271+15T>C)
c.13268+15T>C (n.13268+15T>C)
c.13226+15T>C (n.13226+15T>C)
c.13223+15T>C (n.13223+15T>C)
c.13220+15T>C (n.13220+15T>C)
c.13172+15T>C (n.13172+15T>C)
c.12869+15T>C (n.12869+15T>C)
c.13403+15T>C (n.13403+15T>C)
c.13400+15T>C (n.13400+15T>C)
c.13382+15T>C (n.13382+15T>C)
c.13358+15T>C (n.13358+15T>C)
c.13355+15T>C (n.13355+15T>C)
c.13352+15T>C (n.13352+15T>C)
c.13304+15T>C (n.13304+15T>C)
c.13292+15T>C (n.13292+15T>C)
c.13154+15T>C (n.13154+15T>C)
c.13001+15T>C (n.13001+15T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53533994C>ACA10421103HUWE1c.12806+13G>T (n.12806+13G>T)
c.13022+13G>T (n.13022+13G>T)
c.3489+13G>T
n.348G>T
c.12995+13G>T (n.12995+13G>T)
c.13271+13G>T (n.13271+13G>T)
c.13268+13G>T (n.13268+13G>T)
c.13226+13G>T (n.13226+13G>T)
c.13223+13G>T (n.13223+13G>T)
c.13220+13G>T (n.13220+13G>T)
c.13172+13G>T (n.13172+13G>T)
c.12869+13G>T (n.12869+13G>T)
c.13403+13G>T (n.13403+13G>T)
c.13400+13G>T (n.13400+13G>T)
c.13382+13G>T (n.13382+13G>T)
c.13358+13G>T (n.13358+13G>T)
c.13355+13G>T (n.13355+13G>T)
c.13352+13G>T (n.13352+13G>T)
c.13304+13G>T (n.13304+13G>T)
c.13292+13G>T (n.13292+13G>T)
c.13154+13G>T (n.13154+13G>T)
c.13001+13G>T (n.13001+13G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53533994C=CA2429868880HUWE1c.12806+13G= (n.12806+13G=)
c.13022+13G= (n.13022+13G=)
c.3489+13G=
n.348G=
c.12995+13G= (n.12995+13G=)
c.13271+13G= (n.13271+13G=)
c.13268+13G= (n.13268+13G=)
c.13226+13G= (n.13226+13G=)
c.13223+13G= (n.13223+13G=)
c.13220+13G= (n.13220+13G=)
c.13172+13G= (n.13172+13G=)
c.12869+13G= (n.12869+13G=)
c.13403+13G= (n.13403+13G=)
c.13400+13G= (n.13400+13G=)
c.13382+13G= (n.13382+13G=)
c.13358+13G= (n.13358+13G=)
c.13355+13G= (n.13355+13G=)
c.13352+13G= (n.13352+13G=)
c.13304+13G= (n.13304+13G=)
c.13292+13G= (n.13292+13G=)
c.13154+13G= (n.13154+13G=)
c.13001+13G= (n.13001+13G=)
Xg.53533995C=CA2429868881HUWE1c.12806+12G= (n.12806+12G=)
c.13022+12G= (n.13022+12G=)
c.3489+12G=
n.347G=
c.12995+12G= (n.12995+12G=)
c.13271+12G= (n.13271+12G=)
c.13268+12G= (n.13268+12G=)
c.13226+12G= (n.13226+12G=)
c.13223+12G= (n.13223+12G=)
c.13220+12G= (n.13220+12G=)
c.13172+12G= (n.13172+12G=)
c.12869+12G= (n.12869+12G=)
c.13403+12G= (n.13403+12G=)
c.13400+12G= (n.13400+12G=)
c.13382+12G= (n.13382+12G=)
c.13358+12G= (n.13358+12G=)
c.13355+12G= (n.13355+12G=)
c.13352+12G= (n.13352+12G=)
c.13304+12G= (n.13304+12G=)
c.13292+12G= (n.13292+12G=)
c.13154+12G= (n.13154+12G=)
c.13001+12G= (n.13001+12G=)
Xg.53533995C>GCA10421104HUWE1c.12806+12G>C (n.12806+12G>C)
c.13022+12G>C (n.13022+12G>C)
c.3489+12G>C
n.347G>C
c.12995+12G>C (n.12995+12G>C)
c.13271+12G>C (n.13271+12G>C)
c.13268+12G>C (n.13268+12G>C)
c.13226+12G>C (n.13226+12G>C)
c.13223+12G>C (n.13223+12G>C)
c.13220+12G>C (n.13220+12G>C)
c.13172+12G>C (n.13172+12G>C)
c.12869+12G>C (n.12869+12G>C)
c.13403+12G>C (n.13403+12G>C)
c.13400+12G>C (n.13400+12G>C)
c.13382+12G>C (n.13382+12G>C)
c.13358+12G>C (n.13358+12G>C)
c.13355+12G>C (n.13355+12G>C)
c.13352+12G>C (n.13352+12G>C)
c.13304+12G>C (n.13304+12G>C)
c.13292+12G>C (n.13292+12G>C)
c.13154+12G>C (n.13154+12G>C)
c.13001+12G>C (n.13001+12G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53533995C>TCA641551550HUWE1c.12806+12G>A (n.12806+12G>A)
c.13022+12G>A (n.13022+12G>A)
c.3489+12G>A
n.347G>A
c.12995+12G>A (n.12995+12G>A)
c.13271+12G>A (n.13271+12G>A)
c.13268+12G>A (n.13268+12G>A)
c.13226+12G>A (n.13226+12G>A)
c.13223+12G>A (n.13223+12G>A)
c.13220+12G>A (n.13220+12G>A)
c.13172+12G>A (n.13172+12G>A)
c.12869+12G>A (n.12869+12G>A)
c.13403+12G>A (n.13403+12G>A)
c.13400+12G>A (n.13400+12G>A)
c.13382+12G>A (n.13382+12G>A)
c.13358+12G>A (n.13358+12G>A)
c.13355+12G>A (n.13355+12G>A)
c.13352+12G>A (n.13352+12G>A)
c.13304+12G>A (n.13304+12G>A)
c.13292+12G>A (n.13292+12G>A)
c.13154+12G>A (n.13154+12G>A)
c.13001+12G>A (n.13001+12G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53533999_53534002delCA2693810238HUWE1c.12806+9_12806+12del (n.12806+9_12806+12del)
c.13022+9_13022+12del (n.13022+9_13022+12del)
c.3489+9_3489+12del
n.344_347del
c.12995+9_12995+12del (n.12995+9_12995+12del)
c.13271+9_13271+12del (n.13271+9_13271+12del)
c.13268+9_13268+12del (n.13268+9_13268+12del)
c.13226+9_13226+12del (n.13226+9_13226+12del)
c.13223+9_13223+12del (n.13223+9_13223+12del)
c.13220+9_13220+12del (n.13220+9_13220+12del)
c.13172+9_13172+12del (n.13172+9_13172+12del)
c.12869+9_12869+12del (n.12869+9_12869+12del)
c.13403+9_13403+12del (n.13403+9_13403+12del)
c.13400+9_13400+12del (n.13400+9_13400+12del)
c.13382+9_13382+12del (n.13382+9_13382+12del)
c.13358+9_13358+12del (n.13358+9_13358+12del)
c.13355+9_13355+12del (n.13355+9_13355+12del)
c.13352+9_13352+12del (n.13352+9_13352+12del)
c.13304+9_13304+12del (n.13304+9_13304+12del)
c.13292+9_13292+12del (n.13292+9_13292+12del)
c.13154+9_13154+12del (n.13154+9_13154+12del)
c.13001+9_13001+12del (n.13001+9_13001+12del)
 gnomAD v4
Xg.53533996C>ACA2693810239HUWE1c.12806+11G>T (n.12806+11G>T)
c.13022+11G>T (n.13022+11G>T)
c.3489+11G>T
n.346G>T
c.12995+11G>T (n.12995+11G>T)
c.13271+11G>T (n.13271+11G>T)
c.13268+11G>T (n.13268+11G>T)
c.13226+11G>T (n.13226+11G>T)
c.13223+11G>T (n.13223+11G>T)
c.13220+11G>T (n.13220+11G>T)
c.13172+11G>T (n.13172+11G>T)
c.12869+11G>T (n.12869+11G>T)
c.13403+11G>T (n.13403+11G>T)
c.13400+11G>T (n.13400+11G>T)
c.13382+11G>T (n.13382+11G>T)
c.13358+11G>T (n.13358+11G>T)
c.13355+11G>T (n.13355+11G>T)
c.13352+11G>T (n.13352+11G>T)
c.13304+11G>T (n.13304+11G>T)
c.13292+11G>T (n.13292+11G>T)
c.13154+11G>T (n.13154+11G>T)
c.13001+11G>T (n.13001+11G>T)
 gnomAD v4
Xg.53533998T>CCA2579616515HUWE1c.12806+9A>G (n.12806+9A>G)
c.13022+9A>G (n.13022+9A>G)
c.3489+9A>G
n.344A>G
c.12995+9A>G (n.12995+9A>G)
c.13271+9A>G (n.13271+9A>G)
c.13268+9A>G (n.13268+9A>G)
c.13226+9A>G (n.13226+9A>G)
c.13223+9A>G (n.13223+9A>G)
c.13220+9A>G (n.13220+9A>G)
c.13172+9A>G (n.13172+9A>G)
c.12869+9A>G (n.12869+9A>G)
c.13403+9A>G (n.13403+9A>G)
c.13400+9A>G (n.13400+9A>G)
c.13382+9A>G (n.13382+9A>G)
c.13358+9A>G (n.13358+9A>G)
c.13355+9A>G (n.13355+9A>G)
c.13352+9A>G (n.13352+9A>G)
c.13304+9A>G (n.13304+9A>G)
c.13292+9A>G (n.13292+9A>G)
c.13154+9A>G (n.13154+9A>G)
c.13001+9A>G (n.13001+9A>G)
Xg.53533999C=CA2429868882HUWE1c.12806+8G= (n.12806+8G=)
c.13022+8G= (n.13022+8G=)
c.3489+8G=
n.343G=
c.12995+8G= (n.12995+8G=)
c.13271+8G= (n.13271+8G=)
c.13268+8G= (n.13268+8G=)
c.13226+8G= (n.13226+8G=)
c.13223+8G= (n.13223+8G=)
c.13220+8G= (n.13220+8G=)
c.13172+8G= (n.13172+8G=)
c.12869+8G= (n.12869+8G=)
c.13403+8G= (n.13403+8G=)
c.13400+8G= (n.13400+8G=)
c.13382+8G= (n.13382+8G=)
c.13358+8G= (n.13358+8G=)
c.13355+8G= (n.13355+8G=)
c.13352+8G= (n.13352+8G=)
c.13304+8G= (n.13304+8G=)
c.13292+8G= (n.13292+8G=)
c.13154+8G= (n.13154+8G=)
c.13001+8G= (n.13001+8G=)
Xg.53534000C=CA2429868883HUWE1c.12806+7G= (n.12806+7G=)
c.13022+7G= (n.13022+7G=)
c.3489+7G=
n.342G=
c.12995+7G= (n.12995+7G=)
c.13271+7G= (n.13271+7G=)
c.13268+7G= (n.13268+7G=)
c.13226+7G= (n.13226+7G=)
c.13223+7G= (n.13223+7G=)
c.13220+7G= (n.13220+7G=)
c.13172+7G= (n.13172+7G=)
c.12869+7G= (n.12869+7G=)
c.13403+7G= (n.13403+7G=)
c.13400+7G= (n.13400+7G=)
c.13382+7G= (n.13382+7G=)
c.13358+7G= (n.13358+7G=)
c.13355+7G= (n.13355+7G=)
c.13352+7G= (n.13352+7G=)
c.13304+7G= (n.13304+7G=)
c.13292+7G= (n.13292+7G=)
c.13154+7G= (n.13154+7G=)
c.13001+7G= (n.13001+7G=)
Xg.53534000C>GCA641551551HUWE1c.12806+7G>C (n.12806+7G>C)
c.13022+7G>C (n.13022+7G>C)
c.3489+7G>C
n.342G>C
c.12995+7G>C (n.12995+7G>C)
c.13271+7G>C (n.13271+7G>C)
c.13268+7G>C (n.13268+7G>C)
c.13226+7G>C (n.13226+7G>C)
c.13223+7G>C (n.13223+7G>C)
c.13220+7G>C (n.13220+7G>C)
c.13172+7G>C (n.13172+7G>C)
c.12869+7G>C (n.12869+7G>C)
c.13403+7G>C (n.13403+7G>C)
c.13400+7G>C (n.13400+7G>C)
c.13382+7G>C (n.13382+7G>C)
c.13358+7G>C (n.13358+7G>C)
c.13355+7G>C (n.13355+7G>C)
c.13352+7G>C (n.13352+7G>C)
c.13304+7G>C (n.13304+7G>C)
c.13292+7G>C (n.13292+7G>C)
c.13154+7G>C (n.13154+7G>C)
c.13001+7G>C (n.13001+7G>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.53534000C>TCA641551552HUWE1c.12806+7G>A (n.12806+7G>A)
c.13022+7G>A (n.13022+7G>A)
c.3489+7G>A
n.342G>A
c.12995+7G>A (n.12995+7G>A)
c.13271+7G>A (n.13271+7G>A)
c.13268+7G>A (n.13268+7G>A)
c.13226+7G>A (n.13226+7G>A)
c.13223+7G>A (n.13223+7G>A)
c.13220+7G>A (n.13220+7G>A)
c.13172+7G>A (n.13172+7G>A)
c.12869+7G>A (n.12869+7G>A)
c.13403+7G>A (n.13403+7G>A)
c.13400+7G>A (n.13400+7G>A)
c.13382+7G>A (n.13382+7G>A)
c.13358+7G>A (n.13358+7G>A)
c.13355+7G>A (n.13355+7G>A)
c.13352+7G>A (n.13352+7G>A)
c.13304+7G>A (n.13304+7G>A)
c.13292+7G>A (n.13292+7G>A)
c.13154+7G>A (n.13154+7G>A)
c.13001+7G>A (n.13001+7G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.53534000_53534001dupCA876298636HUWE1c.12806+6_12806+7dup (n.12806+6_12806+7dup)
c.13022+6_13022+7dup (n.13022+6_13022+7dup)
c.3489+6_3489+7dup
n.341_342dup
c.12995+6_12995+7dup (n.12995+6_12995+7dup)
c.13271+6_13271+7dup (n.13271+6_13271+7dup)
c.13268+6_13268+7dup (n.13268+6_13268+7dup)
c.13226+6_13226+7dup (n.13226+6_13226+7dup)
c.13223+6_13223+7dup (n.13223+6_13223+7dup)
c.13220+6_13220+7dup (n.13220+6_13220+7dup)
c.13172+6_13172+7dup (n.13172+6_13172+7dup)
c.12869+6_12869+7dup (n.12869+6_12869+7dup)
c.13403+6_13403+7dup (n.13403+6_13403+7dup)
c.13400+6_13400+7dup (n.13400+6_13400+7dup)
c.13382+6_13382+7dup (n.13382+6_13382+7dup)
c.13358+6_13358+7dup (n.13358+6_13358+7dup)
c.13355+6_13355+7dup (n.13355+6_13355+7dup)
c.13352+6_13352+7dup (n.13352+6_13352+7dup)
c.13304+6_13304+7dup (n.13304+6_13304+7dup)
c.13292+6_13292+7dup (n.13292+6_13292+7dup)
c.13154+6_13154+7dup (n.13154+6_13154+7dup)
c.13001+6_13001+7dup (n.13001+6_13001+7dup)
 dbSNP
Xg.53534001T>CCA2693810240HUWE1c.12806+6A>G (n.12806+6A>G)
c.13022+6A>G (n.13022+6A>G)
c.3489+6A>G
n.341A>G
c.12995+6A>G (n.12995+6A>G)
c.13271+6A>G (n.13271+6A>G)
c.13268+6A>G (n.13268+6A>G)
c.13226+6A>G (n.13226+6A>G)
c.13223+6A>G (n.13223+6A>G)
c.13220+6A>G (n.13220+6A>G)
c.13172+6A>G (n.13172+6A>G)
c.12869+6A>G (n.12869+6A>G)
c.13403+6A>G (n.13403+6A>G)
c.13400+6A>G (n.13400+6A>G)
c.13382+6A>G (n.13382+6A>G)
c.13358+6A>G (n.13358+6A>G)
c.13355+6A>G (n.13355+6A>G)
c.13352+6A>G (n.13352+6A>G)
c.13304+6A>G (n.13304+6A>G)
c.13292+6A>G (n.13292+6A>G)
c.13154+6A>G (n.13154+6A>G)
c.13001+6A>G (n.13001+6A>G)
 gnomAD v4
Xg.53534005A>CCA413143432HUWE1c.12806+2T>G (n.12806+2T>G)
c.13022+2T>G (n.13022+2T>G)
c.3489+2T>G
n.337T>G
c.12995+2T>G (n.12995+2T>G)
c.13271+2T>G (n.13271+2T>G)
c.13268+2T>G (n.13268+2T>G)
c.13226+2T>G (n.13226+2T>G)
c.13223+2T>G (n.13223+2T>G)
c.13220+2T>G (n.13220+2T>G)
c.13172+2T>G (n.13172+2T>G)
c.12869+2T>G (n.12869+2T>G)
c.13403+2T>G (n.13403+2T>G)
c.13400+2T>G (n.13400+2T>G)
c.13382+2T>G (n.13382+2T>G)
c.13358+2T>G (n.13358+2T>G)
c.13355+2T>G (n.13355+2T>G)
c.13352+2T>G (n.13352+2T>G)
c.13304+2T>G (n.13304+2T>G)
c.13292+2T>G (n.13292+2T>G)
c.13154+2T>G (n.13154+2T>G)
c.13001+2T>G (n.13001+2T>G)
Xg.53534005A>GCA413143436HUWE1c.12806+2T>C (n.12806+2T>C)
c.13022+2T>C (n.13022+2T>C)
c.3489+2T>C
n.337T>C
c.12995+2T>C (n.12995+2T>C)
c.13271+2T>C (n.13271+2T>C)
c.13268+2T>C (n.13268+2T>C)
c.13226+2T>C (n.13226+2T>C)
c.13223+2T>C (n.13223+2T>C)
c.13220+2T>C (n.13220+2T>C)
c.13172+2T>C (n.13172+2T>C)
c.12869+2T>C (n.12869+2T>C)
c.13403+2T>C (n.13403+2T>C)
c.13400+2T>C (n.13400+2T>C)
c.13382+2T>C (n.13382+2T>C)
c.13358+2T>C (n.13358+2T>C)
c.13355+2T>C (n.13355+2T>C)
c.13352+2T>C (n.13352+2T>C)
c.13304+2T>C (n.13304+2T>C)
c.13292+2T>C (n.13292+2T>C)
c.13154+2T>C (n.13154+2T>C)
c.13001+2T>C (n.13001+2T>C)
Xg.53534005A>TCA413143441HUWE1c.12806+2T>A (n.12806+2T>A)
c.13022+2T>A (n.13022+2T>A)
c.3489+2T>A
n.337T>A
c.12995+2T>A (n.12995+2T>A)
c.13271+2T>A (n.13271+2T>A)
c.13268+2T>A (n.13268+2T>A)
c.13226+2T>A (n.13226+2T>A)
c.13223+2T>A (n.13223+2T>A)
c.13220+2T>A (n.13220+2T>A)
c.13172+2T>A (n.13172+2T>A)
c.12869+2T>A (n.12869+2T>A)
c.13403+2T>A (n.13403+2T>A)
c.13400+2T>A (n.13400+2T>A)
c.13382+2T>A (n.13382+2T>A)
c.13358+2T>A (n.13358+2T>A)
c.13355+2T>A (n.13355+2T>A)
c.13352+2T>A (n.13352+2T>A)
c.13304+2T>A (n.13304+2T>A)
c.13292+2T>A (n.13292+2T>A)
c.13154+2T>A (n.13154+2T>A)
c.13001+2T>A (n.13001+2T>A)
Xg.53534006C>ACA413143446HUWE1c.12806+1G>T (n.12806+1G>T)
c.13022+1G>T (n.13022+1G>T)
c.3489+1G>T
n.336G>T
c.12995+1G>T (n.12995+1G>T)
c.13271+1G>T (n.13271+1G>T)
c.13268+1G>T (n.13268+1G>T)
c.13226+1G>T (n.13226+1G>T)
c.13223+1G>T (n.13223+1G>T)
c.13220+1G>T (n.13220+1G>T)
c.13172+1G>T (n.13172+1G>T)
c.12869+1G>T (n.12869+1G>T)
c.13403+1G>T (n.13403+1G>T)
c.13400+1G>T (n.13400+1G>T)
c.13382+1G>T (n.13382+1G>T)
c.13358+1G>T (n.13358+1G>T)
c.13355+1G>T (n.13355+1G>T)
c.13352+1G>T (n.13352+1G>T)
c.13304+1G>T (n.13304+1G>T)
c.13292+1G>T (n.13292+1G>T)
c.13154+1G>T (n.13154+1G>T)
c.13001+1G>T (n.13001+1G>T)
 dbSNP
Xg.53534006C=CA2429868884HUWE1c.12806+1G= (n.12806+1G=)
c.13022+1G= (n.13022+1G=)
c.3489+1G=
n.336G=
c.12995+1G= (n.12995+1G=)
c.13271+1G= (n.13271+1G=)
c.13268+1G= (n.13268+1G=)
c.13226+1G= (n.13226+1G=)
c.13223+1G= (n.13223+1G=)
c.13220+1G= (n.13220+1G=)
c.13172+1G= (n.13172+1G=)
c.12869+1G= (n.12869+1G=)
c.13403+1G= (n.13403+1G=)
c.13400+1G= (n.13400+1G=)
c.13382+1G= (n.13382+1G=)
c.13358+1G= (n.13358+1G=)
c.13355+1G= (n.13355+1G=)
c.13352+1G= (n.13352+1G=)
c.13304+1G= (n.13304+1G=)
c.13292+1G= (n.13292+1G=)
c.13154+1G= (n.13154+1G=)
c.13001+1G= (n.13001+1G=)
Xg.53534006C>GCA413143450HUWE1c.12806+1G>C (n.12806+1G>C)
c.13022+1G>C (n.13022+1G>C)
c.3489+1G>C
n.336G>C
c.12995+1G>C (n.12995+1G>C)
c.13271+1G>C (n.13271+1G>C)
c.13268+1G>C (n.13268+1G>C)
c.13226+1G>C (n.13226+1G>C)
c.13223+1G>C (n.13223+1G>C)
c.13220+1G>C (n.13220+1G>C)
c.13172+1G>C (n.13172+1G>C)
c.12869+1G>C (n.12869+1G>C)
c.13403+1G>C (n.13403+1G>C)
c.13400+1G>C (n.13400+1G>C)
c.13382+1G>C (n.13382+1G>C)
c.13358+1G>C (n.13358+1G>C)
c.13355+1G>C (n.13355+1G>C)
c.13352+1G>C (n.13352+1G>C)
c.13304+1G>C (n.13304+1G>C)
c.13292+1G>C (n.13292+1G>C)
c.13154+1G>C (n.13154+1G>C)
c.13001+1G>C (n.13001+1G>C)
Xg.53534006C>TCA413143454HUWE1c.12806+1G>A (n.12806+1G>A)
c.13022+1G>A (n.13022+1G>A)
c.3489+1G>A
n.336G>A
c.12995+1G>A (n.12995+1G>A)
c.13271+1G>A (n.13271+1G>A)
c.13268+1G>A (n.13268+1G>A)
c.13226+1G>A (n.13226+1G>A)
c.13223+1G>A (n.13223+1G>A)
c.13220+1G>A (n.13220+1G>A)
c.13172+1G>A (n.13172+1G>A)
c.12869+1G>A (n.12869+1G>A)
c.13403+1G>A (n.13403+1G>A)
c.13400+1G>A (n.13400+1G>A)
c.13382+1G>A (n.13382+1G>A)
c.13358+1G>A (n.13358+1G>A)
c.13355+1G>A (n.13355+1G>A)
c.13352+1G>A (n.13352+1G>A)
c.13304+1G>A (n.13304+1G>A)
c.13292+1G>A (n.13292+1G>A)
c.13154+1G>A (n.13154+1G>A)
c.13001+1G>A (n.13001+1G>A)
Xg.53534007C>ACA413143459HUWE1c.12806G>T (p.Cys4269Phe)
c.13022G>T (p.Cys4341Phe)
c.3489G>T
n.335G>T
c.12995G>T (p.Cys4332Phe)
c.13271G>T (p.Cys4424Phe)
c.13268G>T (p.Cys4423Phe)
c.13226G>T (p.Cys4409Phe)
c.13223G>T (p.Cys4408Phe)
c.13220G>T (p.Cys4407Phe)
c.13172G>T (p.Cys4391Phe)
c.12869G>T (p.Cys4290Phe)
c.13403G>T (p.Cys4468Phe)
c.13400G>T (p.Cys4467Phe)
c.13382G>T (p.Cys4461Phe)
c.13358G>T (p.Cys4453Phe)
c.13355G>T (p.Cys4452Phe)
c.13352G>T (p.Cys4451Phe)
c.13304G>T (p.Cys4435Phe)
c.13292G>T (p.Cys4431Phe)
c.13154G>T (p.Cys4385Phe)
c.13001G>T (p.Cys4334Phe)
Xg.53534007C>GCA413143463HUWE1c.12806G>C (p.Cys4269Ser)
c.13022G>C (p.Cys4341Ser)
c.3489G>C
n.335G>C
c.12995G>C (p.Cys4332Ser)
c.13271G>C (p.Cys4424Ser)
c.13268G>C (p.Cys4423Ser)
c.13226G>C (p.Cys4409Ser)
c.13223G>C (p.Cys4408Ser)
c.13220G>C (p.Cys4407Ser)
c.13172G>C (p.Cys4391Ser)
c.12869G>C (p.Cys4290Ser)
c.13403G>C (p.Cys4468Ser)
c.13400G>C (p.Cys4467Ser)
c.13382G>C (p.Cys4461Ser)
c.13358G>C (p.Cys4453Ser)
c.13355G>C (p.Cys4452Ser)
c.13352G>C (p.Cys4451Ser)
c.13304G>C (p.Cys4435Ser)
c.13292G>C (p.Cys4431Ser)
c.13154G>C (p.Cys4385Ser)
c.13001G>C (p.Cys4334Ser)
Xg.53534007C>TCA413143467HUWE1c.12806G>A (p.Cys4269Tyr)
c.13022G>A (p.Cys4341Tyr)
c.3489G>A
n.335G>A
c.12995G>A (p.Cys4332Tyr)
c.13271G>A (p.Cys4424Tyr)
c.13268G>A (p.Cys4423Tyr)
c.13226G>A (p.Cys4409Tyr)
c.13223G>A (p.Cys4408Tyr)
c.13220G>A (p.Cys4407Tyr)
c.13172G>A (p.Cys4391Tyr)
c.12869G>A (p.Cys4290Tyr)
c.13403G>A (p.Cys4468Tyr)
c.13400G>A (p.Cys4467Tyr)
c.13382G>A (p.Cys4461Tyr)
c.13358G>A (p.Cys4453Tyr)
c.13355G>A (p.Cys4452Tyr)
c.13352G>A (p.Cys4451Tyr)
c.13304G>A (p.Cys4435Tyr)
c.13292G>A (p.Cys4431Tyr)
c.13154G>A (p.Cys4385Tyr)
c.13001G>A (p.Cys4334Tyr)
Xg.53534008A>CCA413143475HUWE1c.12805T>G (p.Cys4269Gly)
c.13021T>G (p.Cys4341Gly)
c.3488T>G
n.334T>G
c.12994T>G (p.Cys4332Gly)
c.13270T>G (p.Cys4424Gly)
c.13267T>G (p.Cys4423Gly)
c.13225T>G (p.Cys4409Gly)
c.13222T>G (p.Cys4408Gly)
c.13219T>G (p.Cys4407Gly)
c.13171T>G (p.Cys4391Gly)
c.12868T>G (p.Cys4290Gly)
c.13402T>G (p.Cys4468Gly)
c.13399T>G (p.Cys4467Gly)
c.13381T>G (p.Cys4461Gly)
c.13357T>G (p.Cys4453Gly)
c.13354T>G (p.Cys4452Gly)
c.13351T>G (p.Cys4451Gly)
c.13303T>G (p.Cys4435Gly)
c.13291T>G (p.Cys4431Gly)
c.13153T>G (p.Cys4385Gly)
c.13000T>G (p.Cys4334Gly)
Xg.53534008A>GCA413143474HUWE1c.12805T>C (p.Cys4269Arg)
c.13021T>C (p.Cys4341Arg)
c.3488T>C
n.334T>C
c.12994T>C (p.Cys4332Arg)
c.13270T>C (p.Cys4424Arg)
c.13267T>C (p.Cys4423Arg)
c.13225T>C (p.Cys4409Arg)
c.13222T>C (p.Cys4408Arg)
c.13219T>C (p.Cys4407Arg)
c.13171T>C (p.Cys4391Arg)
c.12868T>C (p.Cys4290Arg)
c.13402T>C (p.Cys4468Arg)
c.13399T>C (p.Cys4467Arg)
c.13381T>C (p.Cys4461Arg)
c.13357T>C (p.Cys4453Arg)
c.13354T>C (p.Cys4452Arg)
c.13351T>C (p.Cys4451Arg)
c.13303T>C (p.Cys4435Arg)
c.13291T>C (p.Cys4431Arg)
c.13153T>C (p.Cys4385Arg)
c.13000T>C (p.Cys4334Arg)
Xg.53534008A>TCA413143470HUWE1c.12805T>A (p.Cys4269Ser)
c.13021T>A (p.Cys4341Ser)
c.3488T>A
n.334T>A
c.12994T>A (p.Cys4332Ser)
c.13270T>A (p.Cys4424Ser)
c.13267T>A (p.Cys4423Ser)
c.13225T>A (p.Cys4409Ser)
c.13222T>A (p.Cys4408Ser)
c.13219T>A (p.Cys4407Ser)
c.13171T>A (p.Cys4391Ser)
c.12868T>A (p.Cys4290Ser)
c.13402T>A (p.Cys4468Ser)
c.13399T>A (p.Cys4467Ser)
c.13381T>A (p.Cys4461Ser)
c.13357T>A (p.Cys4453Ser)
c.13354T>A (p.Cys4452Ser)
c.13351T>A (p.Cys4451Ser)
c.13303T>A (p.Cys4435Ser)
c.13291T>A (p.Cys4431Ser)
c.13153T>A (p.Cys4385Ser)
c.13000T>A (p.Cys4334Ser)
Xg.53534009T>ACA516418141HUWE1c.12804A>T (p.Thr4268=)
c.13020A>T (p.Thr4340=)
c.3487A>T
n.333A>T
c.12993A>T (p.Thr4331=)
c.13269A>T (p.Thr4423=)
c.13266A>T (p.Thr4422=)
c.13224A>T (p.Thr4408=)
c.13221A>T (p.Thr4407=)
c.13218A>T (p.Thr4406=)
c.13170A>T (p.Thr4390=)
c.12867A>T (p.Thr4289=)
c.13401A>T (p.Thr4467=)
c.13398A>T (p.Thr4466=)
c.13380A>T (p.Thr4460=)
c.13356A>T (p.Thr4452=)
c.13353A>T (p.Thr4451=)
c.13350A>T (p.Thr4450=)
c.13302A>T (p.Thr4434=)
c.13290A>T (p.Thr4430=)
c.13152A>T (p.Thr4384=)
c.12999A>T (p.Thr4333=)
Xg.53534009T>CCA10421105HUWE1c.12804A>G (p.Thr4268=)
c.13020A>G (p.Thr4340=)
c.3487A>G
n.333A>G
c.12993A>G (p.Thr4331=)
c.13269A>G (p.Thr4423=)
c.13266A>G (p.Thr4422=)
c.13224A>G (p.Thr4408=)
c.13221A>G (p.Thr4407=)
c.13218A>G (p.Thr4406=)
c.13170A>G (p.Thr4390=)
c.12867A>G (p.Thr4289=)
c.13401A>G (p.Thr4467=)
c.13398A>G (p.Thr4466=)
c.13380A>G (p.Thr4460=)
c.13356A>G (p.Thr4452=)
c.13353A>G (p.Thr4451=)
c.13350A>G (p.Thr4450=)
c.13302A>G (p.Thr4434=)
c.13290A>G (p.Thr4430=)
c.13152A>G (p.Thr4384=)
c.12999A>G (p.Thr4333=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53534009T>GCA516418151HUWE1c.12804A>C (p.Thr4268=)
c.13020A>C (p.Thr4340=)
c.3487A>C
n.333A>C
c.12993A>C (p.Thr4331=)
c.13269A>C (p.Thr4423=)
c.13266A>C (p.Thr4422=)
c.13224A>C (p.Thr4408=)
c.13221A>C (p.Thr4407=)
c.13218A>C (p.Thr4406=)
c.13170A>C (p.Thr4390=)
c.12867A>C (p.Thr4289=)
c.13401A>C (p.Thr4467=)
c.13398A>C (p.Thr4466=)
c.13380A>C (p.Thr4460=)
c.13356A>C (p.Thr4452=)
c.13353A>C (p.Thr4451=)
c.13350A>C (p.Thr4450=)
c.13302A>C (p.Thr4434=)
c.13290A>C (p.Thr4430=)
c.13152A>C (p.Thr4384=)
c.12999A>C (p.Thr4333=)
Xg.53534009T=CA2429868885HUWE1c.12804A= (p.Thr4268=)
c.13020A= (p.Thr4340=)
c.3487A=
n.333A=
c.12993A= (p.Thr4331=)
c.13269A= (p.Thr4423=)
c.13266A= (p.Thr4422=)
c.13224A= (p.Thr4408=)
c.13221A= (p.Thr4407=)
c.13218A= (p.Thr4406=)
c.13170A= (p.Thr4390=)
c.12867A= (p.Thr4289=)
c.13401A= (p.Thr4467=)
c.13398A= (p.Thr4466=)
c.13380A= (p.Thr4460=)
c.13356A= (p.Thr4452=)
c.13353A= (p.Thr4451=)
c.13350A= (p.Thr4450=)
c.13302A= (p.Thr4434=)
c.13290A= (p.Thr4430=)
c.13152A= (p.Thr4384=)
c.12999A= (p.Thr4333=)
Xg.53534013_53534014delCA2579616516HUWE1c.12803_12804del (p.Thr4268MetfsTer3)
c.13019_13020del (p.Thr4340MetfsTer3)
c.3486_3487del
n.332_333del
c.12992_12993del (p.Thr4331MetfsTer3)
c.13268_13269del (p.Thr4423MetfsTer3)
c.13265_13266del (p.Thr4422MetfsTer3)
c.13223_13224del (p.Thr4408MetfsTer3)
c.13220_13221del (p.Thr4407MetfsTer3)
c.13217_13218del (p.Thr4406MetfsTer3)
c.13169_13170del (p.Thr4390MetfsTer3)
c.12866_12867del (p.Thr4289MetfsTer3)
c.13400_13401del (p.Thr4467MetfsTer3)
c.13397_13398del (p.Thr4466MetfsTer3)
c.13379_13380del (p.Thr4460MetfsTer3)
c.13355_13356del (p.Thr4452MetfsTer3)
c.13352_13353del (p.Thr4451MetfsTer3)
c.13349_13350del (p.Thr4450MetfsTer3)
c.13301_13302del (p.Thr4434MetfsTer3)
c.13289_13290del (p.Thr4430MetfsTer3)
c.13151_13152del (p.Thr4384MetfsTer3)
c.12998_12999del (p.Thr4333MetfsTer3)
Xg.53534010G>ACA413143481HUWE1c.12803C>T (p.Thr4268Ile)
c.13019C>T (p.Thr4340Ile)
c.3486C>T
n.332C>T
c.12992C>T (p.Thr4331Ile)
c.13268C>T (p.Thr4423Ile)
c.13265C>T (p.Thr4422Ile)
c.13223C>T (p.Thr4408Ile)
c.13220C>T (p.Thr4407Ile)
c.13217C>T (p.Thr4406Ile)
c.13169C>T (p.Thr4390Ile)
c.12866C>T (p.Thr4289Ile)
c.13400C>T (p.Thr4467Ile)
c.13397C>T (p.Thr4466Ile)
c.13379C>T (p.Thr4460Ile)
c.13355C>T (p.Thr4452Ile)
c.13352C>T (p.Thr4451Ile)
c.13349C>T (p.Thr4450Ile)
c.13301C>T (p.Thr4434Ile)
c.13289C>T (p.Thr4430Ile)
c.13151C>T (p.Thr4384Ile)
c.12998C>T (p.Thr4333Ile)
Xg.53534010G>CCA413143484HUWE1c.12803C>G (p.Thr4268Arg)
c.13019C>G (p.Thr4340Arg)
c.3486C>G
n.332C>G
c.12992C>G (p.Thr4331Arg)
c.13268C>G (p.Thr4423Arg)
c.13265C>G (p.Thr4422Arg)
c.13223C>G (p.Thr4408Arg)
c.13220C>G (p.Thr4407Arg)
c.13217C>G (p.Thr4406Arg)
c.13169C>G (p.Thr4390Arg)
c.12866C>G (p.Thr4289Arg)
c.13400C>G (p.Thr4467Arg)
c.13397C>G (p.Thr4466Arg)
c.13379C>G (p.Thr4460Arg)
c.13355C>G (p.Thr4452Arg)
c.13352C>G (p.Thr4451Arg)
c.13349C>G (p.Thr4450Arg)
c.13301C>G (p.Thr4434Arg)
c.13289C>G (p.Thr4430Arg)
c.13151C>G (p.Thr4384Arg)
c.12998C>G (p.Thr4333Arg)
Xg.53534010G>TCA413143486HUWE1c.12803C>A (p.Thr4268Lys)
c.13019C>A (p.Thr4340Lys)
c.3486C>A
n.332C>A
c.12992C>A (p.Thr4331Lys)
c.13268C>A (p.Thr4423Lys)
c.13265C>A (p.Thr4422Lys)
c.13223C>A (p.Thr4408Lys)
c.13220C>A (p.Thr4407Lys)
c.13217C>A (p.Thr4406Lys)
c.13169C>A (p.Thr4390Lys)
c.12866C>A (p.Thr4289Lys)
c.13400C>A (p.Thr4467Lys)
c.13397C>A (p.Thr4466Lys)
c.13379C>A (p.Thr4460Lys)
c.13355C>A (p.Thr4452Lys)
c.13352C>A (p.Thr4451Lys)
c.13349C>A (p.Thr4450Lys)
c.13301C>A (p.Thr4434Lys)
c.13289C>A (p.Thr4430Lys)
c.13151C>A (p.Thr4384Lys)
c.12998C>A (p.Thr4333Lys)
Xg.53534011T>ACA413143492HUWE1c.12802A>T (p.Thr4268Ser)
c.13018A>T (p.Thr4340Ser)
c.3485A>T
n.331A>T
c.12991A>T (p.Thr4331Ser)
c.13267A>T (p.Thr4423Ser)
c.13264A>T (p.Thr4422Ser)
c.13222A>T (p.Thr4408Ser)
c.13219A>T (p.Thr4407Ser)
c.13216A>T (p.Thr4406Ser)
c.13168A>T (p.Thr4390Ser)
c.12865A>T (p.Thr4289Ser)
c.13399A>T (p.Thr4467Ser)
c.13396A>T (p.Thr4466Ser)
c.13378A>T (p.Thr4460Ser)
c.13354A>T (p.Thr4452Ser)
c.13351A>T (p.Thr4451Ser)
c.13348A>T (p.Thr4450Ser)
c.13300A>T (p.Thr4434Ser)
c.13288A>T (p.Thr4430Ser)
c.13150A>T (p.Thr4384Ser)
c.12997A>T (p.Thr4333Ser)
Xg.53534011T>CCA413143496HUWE1c.12802A>G (p.Thr4268Ala)
c.13018A>G (p.Thr4340Ala)
c.3485A>G
n.331A>G
c.12991A>G (p.Thr4331Ala)
c.13267A>G (p.Thr4423Ala)
c.13264A>G (p.Thr4422Ala)
c.13222A>G (p.Thr4408Ala)
c.13219A>G (p.Thr4407Ala)
c.13216A>G (p.Thr4406Ala)
c.13168A>G (p.Thr4390Ala)
c.12865A>G (p.Thr4289Ala)
c.13399A>G (p.Thr4467Ala)
c.13396A>G (p.Thr4466Ala)
c.13378A>G (p.Thr4460Ala)
c.13354A>G (p.Thr4452Ala)
c.13351A>G (p.Thr4451Ala)
c.13348A>G (p.Thr4450Ala)
c.13300A>G (p.Thr4434Ala)
c.13288A>G (p.Thr4430Ala)
c.13150A>G (p.Thr4384Ala)
c.12997A>G (p.Thr4333Ala)
Xg.53534011T>GCA413143499HUWE1c.12802A>C (p.Thr4268Pro)
c.13018A>C (p.Thr4340Pro)
c.3485A>C
n.331A>C
c.12991A>C (p.Thr4331Pro)
c.13267A>C (p.Thr4423Pro)
c.13264A>C (p.Thr4422Pro)
c.13222A>C (p.Thr4408Pro)
c.13219A>C (p.Thr4407Pro)
c.13216A>C (p.Thr4406Pro)
c.13168A>C (p.Thr4390Pro)
c.12865A>C (p.Thr4289Pro)
c.13399A>C (p.Thr4467Pro)
c.13396A>C (p.Thr4466Pro)
c.13378A>C (p.Thr4460Pro)
c.13354A>C (p.Thr4452Pro)
c.13351A>C (p.Thr4451Pro)
c.13348A>C (p.Thr4450Pro)
c.13300A>C (p.Thr4434Pro)
c.13288A>C (p.Thr4430Pro)
c.13150A>C (p.Thr4384Pro)
c.12997A>C (p.Thr4333Pro)
Xg.53534012G>ACA516418187HUWE1c.12801C>T (p.His4267=)
c.13017C>T (p.His4339=)
c.3484C>T
n.330C>T
c.12990C>T (p.His4330=)
c.13266C>T (p.His4422=)
c.13263C>T (p.His4421=)
c.13221C>T (p.His4407=)
c.13218C>T (p.His4406=)
c.13215C>T (p.His4405=)
c.13167C>T (p.His4389=)
c.12864C>T (p.His4288=)
c.13398C>T (p.His4466=)
c.13395C>T (p.His4465=)
c.13377C>T (p.His4459=)
c.13353C>T (p.His4451=)
c.13350C>T (p.His4450=)
c.13347C>T (p.His4449=)
c.13299C>T (p.His4433=)
c.13287C>T (p.His4429=)
c.13149C>T (p.His4383=)
c.12996C>T (p.His4332=)
Xg.53534012G>CCA413143502HUWE1c.12801C>G (p.His4267Gln)
c.13017C>G (p.His4339Gln)
c.3484C>G
n.330C>G
c.12990C>G (p.His4330Gln)
c.13266C>G (p.His4422Gln)
c.13263C>G (p.His4421Gln)
c.13221C>G (p.His4407Gln)
c.13218C>G (p.His4406Gln)
c.13215C>G (p.His4405Gln)
c.13167C>G (p.His4389Gln)
c.12864C>G (p.His4288Gln)
c.13398C>G (p.His4466Gln)
c.13395C>G (p.His4465Gln)
c.13377C>G (p.His4459Gln)
c.13353C>G (p.His4451Gln)
c.13350C>G (p.His4450Gln)
c.13347C>G (p.His4449Gln)
c.13299C>G (p.His4433Gln)
c.13287C>G (p.His4429Gln)
c.13149C>G (p.His4383Gln)
c.12996C>G (p.His4332Gln)
Xg.53534012G>TCA413143506HUWE1c.12801C>A (p.His4267Gln)
c.13017C>A (p.His4339Gln)
c.3484C>A
n.330C>A
c.12990C>A (p.His4330Gln)
c.13266C>A (p.His4422Gln)
c.13263C>A (p.His4421Gln)
c.13221C>A (p.His4407Gln)
c.13218C>A (p.His4406Gln)
c.13215C>A (p.His4405Gln)
c.13167C>A (p.His4389Gln)
c.12864C>A (p.His4288Gln)
c.13398C>A (p.His4466Gln)
c.13395C>A (p.His4465Gln)
c.13377C>A (p.His4459Gln)
c.13353C>A (p.His4451Gln)
c.13350C>A (p.His4450Gln)
c.13347C>A (p.His4449Gln)
c.13299C>A (p.His4433Gln)
c.13287C>A (p.His4429Gln)
c.13149C>A (p.His4383Gln)
c.12996C>A (p.His4332Gln)
Xg.53534013T>ACA413143510HUWE1c.12800A>T (p.His4267Leu)
c.13016A>T (p.His4339Leu)
c.3483A>T
n.329A>T
c.12989A>T (p.His4330Leu)
c.13265A>T (p.His4422Leu)
c.13262A>T (p.His4421Leu)
c.13220A>T (p.His4407Leu)
c.13217A>T (p.His4406Leu)
c.13214A>T (p.His4405Leu)
c.13166A>T (p.His4389Leu)
c.12863A>T (p.His4288Leu)
c.13397A>T (p.His4466Leu)
c.13394A>T (p.His4465Leu)
c.13376A>T (p.His4459Leu)
c.13352A>T (p.His4451Leu)
c.13349A>T (p.His4450Leu)
c.13346A>T (p.His4449Leu)
c.13298A>T (p.His4433Leu)
c.13286A>T (p.His4429Leu)
c.13148A>T (p.His4383Leu)
c.12995A>T (p.His4332Leu)
Xg.53534013T>CCA413143519HUWE1c.12800A>G (p.His4267Arg)
c.13016A>G (p.His4339Arg)
c.3483A>G
n.329A>G
c.12989A>G (p.His4330Arg)
c.13265A>G (p.His4422Arg)
c.13262A>G (p.His4421Arg)
c.13220A>G (p.His4407Arg)
c.13217A>G (p.His4406Arg)
c.13214A>G (p.His4405Arg)
c.13166A>G (p.His4389Arg)
c.12863A>G (p.His4288Arg)
c.13397A>G (p.His4466Arg)
c.13394A>G (p.His4465Arg)
c.13376A>G (p.His4459Arg)
c.13352A>G (p.His4451Arg)
c.13349A>G (p.His4450Arg)
c.13346A>G (p.His4449Arg)
c.13298A>G (p.His4433Arg)
c.13286A>G (p.His4429Arg)
c.13148A>G (p.His4383Arg)
c.12995A>G (p.His4332Arg)
Xg.53534013T>GCA413143524HUWE1c.12800A>C (p.His4267Pro)
c.13016A>C (p.His4339Pro)
c.3483A>C
n.329A>C
c.12989A>C (p.His4330Pro)
c.13265A>C (p.His4422Pro)
c.13262A>C (p.His4421Pro)
c.13220A>C (p.His4407Pro)
c.13217A>C (p.His4406Pro)
c.13214A>C (p.His4405Pro)
c.13166A>C (p.His4389Pro)
c.12863A>C (p.His4288Pro)
c.13397A>C (p.His4466Pro)
c.13394A>C (p.His4465Pro)
c.13376A>C (p.His4459Pro)
c.13352A>C (p.His4451Pro)
c.13349A>C (p.His4450Pro)
c.13346A>C (p.His4449Pro)
c.13298A>C (p.His4433Pro)
c.13286A>C (p.His4429Pro)
c.13148A>C (p.His4383Pro)
c.12995A>C (p.His4332Pro)
Xg.53534014G>ACA413143538HUWE1c.12799C>T (p.His4267Tyr)
c.13015C>T (p.His4339Tyr)
c.3482C>T
n.328C>T
c.12988C>T (p.His4330Tyr)
c.13264C>T (p.His4422Tyr)
c.13261C>T (p.His4421Tyr)
c.13219C>T (p.His4407Tyr)
c.13216C>T (p.His4406Tyr)
c.13213C>T (p.His4405Tyr)
c.13165C>T (p.His4389Tyr)
c.12862C>T (p.His4288Tyr)
c.13396C>T (p.His4466Tyr)
c.13393C>T (p.His4465Tyr)
c.13375C>T (p.His4459Tyr)
c.13351C>T (p.His4451Tyr)
c.13348C>T (p.His4450Tyr)
c.13345C>T (p.His4449Tyr)
c.13297C>T (p.His4433Tyr)
c.13285C>T (p.His4429Tyr)
c.13147C>T (p.His4383Tyr)
c.12994C>T (p.His4332Tyr)
Xg.53534014G>CCA413143540HUWE1c.12799C>G (p.His4267Asp)
c.13015C>G (p.His4339Asp)
c.3482C>G
n.328C>G
c.12988C>G (p.His4330Asp)
c.13264C>G (p.His4422Asp)
c.13261C>G (p.His4421Asp)
c.13219C>G (p.His4407Asp)
c.13216C>G (p.His4406Asp)
c.13213C>G (p.His4405Asp)
c.13165C>G (p.His4389Asp)
c.12862C>G (p.His4288Asp)
c.13396C>G (p.His4466Asp)
c.13393C>G (p.His4465Asp)
c.13375C>G (p.His4459Asp)
c.13351C>G (p.His4451Asp)
c.13348C>G (p.His4450Asp)
c.13345C>G (p.His4449Asp)
c.13297C>G (p.His4433Asp)
c.13285C>G (p.His4429Asp)
c.13147C>G (p.His4383Asp)
c.12994C>G (p.His4332Asp)
 COSMIC
Xg.53534014G>TCA413143533HUWE1c.12799C>A (p.His4267Asn)
c.13015C>A (p.His4339Asn)
c.3482C>A
n.328C>A
c.12988C>A (p.His4330Asn)
c.13264C>A (p.His4422Asn)
c.13261C>A (p.His4421Asn)
c.13219C>A (p.His4407Asn)
c.13216C>A (p.His4406Asn)
c.13213C>A (p.His4405Asn)
c.13165C>A (p.His4389Asn)
c.12862C>A (p.His4288Asn)
c.13396C>A (p.His4466Asn)
c.13393C>A (p.His4465Asn)
c.13375C>A (p.His4459Asn)
c.13351C>A (p.His4451Asn)
c.13348C>A (p.His4450Asn)
c.13345C>A (p.His4449Asn)
c.13297C>A (p.His4433Asn)
c.13285C>A (p.His4429Asn)
c.13147C>A (p.His4383Asn)
c.12994C>A (p.His4332Asn)
Xg.53534015A>CCA516418204HUWE1c.12798T>G (p.Ala4266=)
c.13014T>G (p.Ala4338=)
c.3481T>G
n.327T>G
c.12987T>G (p.Ala4329=)
c.13263T>G (p.Ala4421=)
c.13260T>G (p.Ala4420=)
c.13218T>G (p.Ala4406=)
c.13215T>G (p.Ala4405=)
c.13212T>G (p.Ala4404=)
c.13164T>G (p.Ala4388=)
c.12861T>G (p.Ala4287=)
c.13395T>G (p.Ala4465=)
c.13392T>G (p.Ala4464=)
c.13374T>G (p.Ala4458=)
c.13350T>G (p.Ala4450=)
c.13347T>G (p.Ala4449=)
c.13344T>G (p.Ala4448=)
c.13296T>G (p.Ala4432=)
c.13284T>G (p.Ala4428=)
c.13146T>G (p.Ala4382=)
c.12993T>G (p.Ala4331=)
Xg.53534015A>GCA516418206HUWE1c.12798T>C (p.Ala4266=)
c.13014T>C (p.Ala4338=)
c.3481T>C
n.327T>C
c.12987T>C (p.Ala4329=)
c.13263T>C (p.Ala4421=)
c.13260T>C (p.Ala4420=)
c.13218T>C (p.Ala4406=)
c.13215T>C (p.Ala4405=)
c.13212T>C (p.Ala4404=)
c.13164T>C (p.Ala4388=)
c.12861T>C (p.Ala4287=)
c.13395T>C (p.Ala4465=)
c.13392T>C (p.Ala4464=)
c.13374T>C (p.Ala4458=)
c.13350T>C (p.Ala4450=)
c.13347T>C (p.Ala4449=)
c.13344T>C (p.Ala4448=)
c.13296T>C (p.Ala4432=)
c.13284T>C (p.Ala4428=)
c.13146T>C (p.Ala4382=)
c.12993T>C (p.Ala4331=)
Xg.53534015A>TCA516418205HUWE1c.12798T>A (p.Ala4266=)
c.13014T>A (p.Ala4338=)
c.3481T>A
n.327T>A
c.12987T>A (p.Ala4329=)
c.13263T>A (p.Ala4421=)
c.13260T>A (p.Ala4420=)
c.13218T>A (p.Ala4406=)
c.13215T>A (p.Ala4405=)
c.13212T>A (p.Ala4404=)
c.13164T>A (p.Ala4388=)
c.12861T>A (p.Ala4287=)
c.13395T>A (p.Ala4465=)
c.13392T>A (p.Ala4464=)
c.13374T>A (p.Ala4458=)
c.13350T>A (p.Ala4450=)
c.13347T>A (p.Ala4449=)
c.13344T>A (p.Ala4448=)
c.13296T>A (p.Ala4432=)
c.13284T>A (p.Ala4428=)
c.13146T>A (p.Ala4382=)
c.12993T>A (p.Ala4331=)
Xg.53534016G>ACA413143545HUWE1c.12797C>T (p.Ala4266Val)
c.13013C>T (p.Ala4338Val)
c.3480C>T
n.326C>T
c.12986C>T (p.Ala4329Val)
c.13262C>T (p.Ala4421Val)
c.13259C>T (p.Ala4420Val)
c.13217C>T (p.Ala4406Val)
c.13214C>T (p.Ala4405Val)
c.13211C>T (p.Ala4404Val)
c.13163C>T (p.Ala4388Val)
c.12860C>T (p.Ala4287Val)
c.13394C>T (p.Ala4465Val)
c.13391C>T (p.Ala4464Val)
c.13373C>T (p.Ala4458Val)
c.13349C>T (p.Ala4450Val)
c.13346C>T (p.Ala4449Val)
c.13343C>T (p.Ala4448Val)
c.13295C>T (p.Ala4432Val)
c.13283C>T (p.Ala4428Val)
c.13145C>T (p.Ala4382Val)
c.12992C>T (p.Ala4331Val)
Xg.53534016G>CCA413143549HUWE1c.12797C>G (p.Ala4266Gly)
c.13013C>G (p.Ala4338Gly)
c.3480C>G
n.326C>G
c.12986C>G (p.Ala4329Gly)
c.13262C>G (p.Ala4421Gly)
c.13259C>G (p.Ala4420Gly)
c.13217C>G (p.Ala4406Gly)
c.13214C>G (p.Ala4405Gly)
c.13211C>G (p.Ala4404Gly)
c.13163C>G (p.Ala4388Gly)
c.12860C>G (p.Ala4287Gly)
c.13394C>G (p.Ala4465Gly)
c.13391C>G (p.Ala4464Gly)
c.13373C>G (p.Ala4458Gly)
c.13349C>G (p.Ala4450Gly)
c.13346C>G (p.Ala4449Gly)
c.13343C>G (p.Ala4448Gly)
c.13295C>G (p.Ala4432Gly)
c.13283C>G (p.Ala4428Gly)
c.13145C>G (p.Ala4382Gly)
c.12992C>G (p.Ala4331Gly)
Xg.53534016G>TCA413143553HUWE1c.12797C>A (p.Ala4266Asp)
c.13013C>A (p.Ala4338Asp)
c.3480C>A
n.326C>A
c.12986C>A (p.Ala4329Asp)
c.13262C>A (p.Ala4421Asp)
c.13259C>A (p.Ala4420Asp)
c.13217C>A (p.Ala4406Asp)
c.13214C>A (p.Ala4405Asp)
c.13211C>A (p.Ala4404Asp)
c.13163C>A (p.Ala4388Asp)
c.12860C>A (p.Ala4287Asp)
c.13394C>A (p.Ala4465Asp)
c.13391C>A (p.Ala4464Asp)
c.13373C>A (p.Ala4458Asp)
c.13349C>A (p.Ala4450Asp)
c.13346C>A (p.Ala4449Asp)
c.13343C>A (p.Ala4448Asp)
c.13295C>A (p.Ala4432Asp)
c.13283C>A (p.Ala4428Asp)
c.13145C>A (p.Ala4382Asp)
c.12992C>A (p.Ala4331Asp)
Xg.53534017C>ACA413143554HUWE1c.12796G>T (p.Ala4266Ser)
c.13012G>T (p.Ala4338Ser)
c.3479G>T
n.325G>T
c.12985G>T (p.Ala4329Ser)
c.13261G>T (p.Ala4421Ser)
c.13258G>T (p.Ala4420Ser)
c.13216G>T (p.Ala4406Ser)
c.13213G>T (p.Ala4405Ser)
c.13210G>T (p.Ala4404Ser)
c.13162G>T (p.Ala4388Ser)
c.12859G>T (p.Ala4287Ser)
c.13393G>T (p.Ala4465Ser)
c.13390G>T (p.Ala4464Ser)
c.13372G>T (p.Ala4458Ser)
c.13348G>T (p.Ala4450Ser)
c.13345G>T (p.Ala4449Ser)
c.13342G>T (p.Ala4448Ser)
c.13294G>T (p.Ala4432Ser)
c.13282G>T (p.Ala4428Ser)
c.13144G>T (p.Ala4382Ser)
c.12991G>T (p.Ala4331Ser)
Xg.53534017C>GCA413143555HUWE1c.12796G>C (p.Ala4266Pro)
c.13012G>C (p.Ala4338Pro)
c.3479G>C
n.325G>C
c.12985G>C (p.Ala4329Pro)
c.13261G>C (p.Ala4421Pro)
c.13258G>C (p.Ala4420Pro)
c.13216G>C (p.Ala4406Pro)
c.13213G>C (p.Ala4405Pro)
c.13210G>C (p.Ala4404Pro)
c.13162G>C (p.Ala4388Pro)
c.12859G>C (p.Ala4287Pro)
c.13393G>C (p.Ala4465Pro)
c.13390G>C (p.Ala4464Pro)
c.13372G>C (p.Ala4458Pro)
c.13348G>C (p.Ala4450Pro)
c.13345G>C (p.Ala4449Pro)
c.13342G>C (p.Ala4448Pro)
c.13294G>C (p.Ala4432Pro)
c.13282G>C (p.Ala4428Pro)
c.13144G>C (p.Ala4382Pro)
c.12991G>C (p.Ala4331Pro)
Xg.53534017C>TCA413143556HUWE1c.12796G>A (p.Ala4266Thr)
c.13012G>A (p.Ala4338Thr)
c.3479G>A
n.325G>A
c.12985G>A (p.Ala4329Thr)
c.13261G>A (p.Ala4421Thr)
c.13258G>A (p.Ala4420Thr)
c.13216G>A (p.Ala4406Thr)
c.13213G>A (p.Ala4405Thr)
c.13210G>A (p.Ala4404Thr)
c.13162G>A (p.Ala4388Thr)
c.12859G>A (p.Ala4287Thr)
c.13393G>A (p.Ala4465Thr)
c.13390G>A (p.Ala4464Thr)
c.13372G>A (p.Ala4458Thr)
c.13348G>A (p.Ala4450Thr)
c.13345G>A (p.Ala4449Thr)
c.13342G>A (p.Ala4448Thr)
c.13294G>A (p.Ala4432Thr)
c.13282G>A (p.Ala4428Thr)
c.13144G>A (p.Ala4382Thr)
c.12991G>A (p.Ala4331Thr)
Xg.53534018T>ACA516418220HUWE1c.12795A>T (p.Ser4265=)
c.13011A>T (p.Ser4337=)
c.3478A>T
n.324A>T
c.12984A>T (p.Ser4328=)
c.13260A>T (p.Ser4420=)
c.13257A>T (p.Ser4419=)
c.13215A>T (p.Ser4405=)
c.13212A>T (p.Ser4404=)
c.13209A>T (p.Ser4403=)
c.13161A>T (p.Ser4387=)
c.12858A>T (p.Ser4286=)
c.13392A>T (p.Ser4464=)
c.13389A>T (p.Ser4463=)
c.13371A>T (p.Ser4457=)
c.13347A>T (p.Ser4449=)
c.13344A>T (p.Ser4448=)
c.13341A>T (p.Ser4447=)
c.13293A>T (p.Ser4431=)
c.13281A>T (p.Ser4427=)
c.13143A>T (p.Ser4381=)
c.12990A>T (p.Ser4330=)
Xg.53534018T>CCA516418223HUWE1c.12795A>G (p.Ser4265=)
c.13011A>G (p.Ser4337=)
c.3478A>G
n.324A>G
c.12984A>G (p.Ser4328=)
c.13260A>G (p.Ser4420=)
c.13257A>G (p.Ser4419=)
c.13215A>G (p.Ser4405=)
c.13212A>G (p.Ser4404=)
c.13209A>G (p.Ser4403=)
c.13161A>G (p.Ser4387=)
c.12858A>G (p.Ser4286=)
c.13392A>G (p.Ser4464=)
c.13389A>G (p.Ser4463=)
c.13371A>G (p.Ser4457=)
c.13347A>G (p.Ser4449=)
c.13344A>G (p.Ser4448=)
c.13341A>G (p.Ser4447=)
c.13293A>G (p.Ser4431=)
c.13281A>G (p.Ser4427=)
c.13143A>G (p.Ser4381=)
c.12990A>G (p.Ser4330=)
Xg.53534018T>GCA516418224HUWE1c.12795A>C (p.Ser4265=)
c.13011A>C (p.Ser4337=)
c.3478A>C
n.324A>C
c.12984A>C (p.Ser4328=)
c.13260A>C (p.Ser4420=)
c.13257A>C (p.Ser4419=)
c.13215A>C (p.Ser4405=)
c.13212A>C (p.Ser4404=)
c.13209A>C (p.Ser4403=)
c.13161A>C (p.Ser4387=)
c.12858A>C (p.Ser4286=)
c.13392A>C (p.Ser4464=)
c.13389A>C (p.Ser4463=)
c.13371A>C (p.Ser4457=)
c.13347A>C (p.Ser4449=)
c.13344A>C (p.Ser4448=)
c.13341A>C (p.Ser4447=)
c.13293A>C (p.Ser4431=)
c.13281A>C (p.Ser4427=)
c.13143A>C (p.Ser4381=)
c.12990A>C (p.Ser4330=)
Xg.53534019G>ACA413143558HUWE1c.12794C>T (p.Ser4265Leu)
c.13010C>T (p.Ser4337Leu)
c.3477C>T
n.323C>T
c.12983C>T (p.Ser4328Leu)
c.13259C>T (p.Ser4420Leu)
c.13256C>T (p.Ser4419Leu)
c.13214C>T (p.Ser4405Leu)
c.13211C>T (p.Ser4404Leu)
c.13208C>T (p.Ser4403Leu)
c.13160C>T (p.Ser4387Leu)
c.12857C>T (p.Ser4286Leu)
c.13391C>T (p.Ser4464Leu)
c.13388C>T (p.Ser4463Leu)
c.13370C>T (p.Ser4457Leu)
c.13346C>T (p.Ser4449Leu)
c.13343C>T (p.Ser4448Leu)
c.13340C>T (p.Ser4447Leu)
c.13292C>T (p.Ser4431Leu)
c.13280C>T (p.Ser4427Leu)
c.13142C>T (p.Ser4381Leu)
c.12989C>T (p.Ser4330Leu)
Xg.53534019G>CCA413143561HUWE1c.12794C>G (p.Ser4265Ter)
c.13010C>G (p.Ser4337Ter)
c.3477C>G
n.323C>G
c.12983C>G (p.Ser4328Ter)
c.13259C>G (p.Ser4420Ter)
c.13256C>G (p.Ser4419Ter)
c.13214C>G (p.Ser4405Ter)
c.13211C>G (p.Ser4404Ter)
c.13208C>G (p.Ser4403Ter)
c.13160C>G (p.Ser4387Ter)
c.12857C>G (p.Ser4286Ter)
c.13391C>G (p.Ser4464Ter)
c.13388C>G (p.Ser4463Ter)
c.13370C>G (p.Ser4457Ter)
c.13346C>G (p.Ser4449Ter)
c.13343C>G (p.Ser4448Ter)
c.13340C>G (p.Ser4447Ter)
c.13292C>G (p.Ser4431Ter)
c.13280C>G (p.Ser4427Ter)
c.13142C>G (p.Ser4381Ter)
c.12989C>G (p.Ser4330Ter)
Xg.53534019G>TCA413143560HUWE1c.12794C>A (p.Ser4265Ter)
c.13010C>A (p.Ser4337Ter)
c.3477C>A
n.323C>A
c.12983C>A (p.Ser4328Ter)
c.13259C>A (p.Ser4420Ter)
c.13256C>A (p.Ser4419Ter)
c.13214C>A (p.Ser4405Ter)
c.13211C>A (p.Ser4404Ter)
c.13208C>A (p.Ser4403Ter)
c.13160C>A (p.Ser4387Ter)
c.12857C>A (p.Ser4286Ter)
c.13391C>A (p.Ser4464Ter)
c.13388C>A (p.Ser4463Ter)
c.13370C>A (p.Ser4457Ter)
c.13346C>A (p.Ser4449Ter)
c.13343C>A (p.Ser4448Ter)
c.13340C>A (p.Ser4447Ter)
c.13292C>A (p.Ser4431Ter)
c.13280C>A (p.Ser4427Ter)
c.13142C>A (p.Ser4381Ter)
c.12989C>A (p.Ser4330Ter)
 gnomAD v4
Xg.53534020A>CCA413143562HUWE1c.12793T>G (p.Ser4265Ala)
c.13009T>G (p.Ser4337Ala)
c.3476T>G
n.322T>G
c.12982T>G (p.Ser4328Ala)
c.13258T>G (p.Ser4420Ala)
c.13255T>G (p.Ser4419Ala)
c.13213T>G (p.Ser4405Ala)
c.13210T>G (p.Ser4404Ala)
c.13207T>G (p.Ser4403Ala)
c.13159T>G (p.Ser4387Ala)
c.12856T>G (p.Ser4286Ala)
c.13390T>G (p.Ser4464Ala)
c.13387T>G (p.Ser4463Ala)
c.13369T>G (p.Ser4457Ala)
c.13345T>G (p.Ser4449Ala)
c.13342T>G (p.Ser4448Ala)
c.13339T>G (p.Ser4447Ala)
c.13291T>G (p.Ser4431Ala)
c.13279T>G (p.Ser4427Ala)
c.13141T>G (p.Ser4381Ala)
c.12988T>G (p.Ser4330Ala)
Xg.53534020A>GCA413143563HUWE1c.12793T>C (p.Ser4265Pro)
c.13009T>C (p.Ser4337Pro)
c.3476T>C
n.322T>C
c.12982T>C (p.Ser4328Pro)
c.13258T>C (p.Ser4420Pro)
c.13255T>C (p.Ser4419Pro)
c.13213T>C (p.Ser4405Pro)
c.13210T>C (p.Ser4404Pro)
c.13207T>C (p.Ser4403Pro)
c.13159T>C (p.Ser4387Pro)
c.12856T>C (p.Ser4286Pro)
c.13390T>C (p.Ser4464Pro)
c.13387T>C (p.Ser4463Pro)
c.13369T>C (p.Ser4457Pro)
c.13345T>C (p.Ser4449Pro)
c.13342T>C (p.Ser4448Pro)
c.13339T>C (p.Ser4447Pro)
c.13291T>C (p.Ser4431Pro)
c.13279T>C (p.Ser4427Pro)
c.13141T>C (p.Ser4381Pro)
c.12988T>C (p.Ser4330Pro)
Xg.53534020A>TCA413143566HUWE1c.12793T>A (p.Ser4265Thr)
c.13009T>A (p.Ser4337Thr)
c.3476T>A
n.322T>A
c.12982T>A (p.Ser4328Thr)
c.13258T>A (p.Ser4420Thr)
c.13255T>A (p.Ser4419Thr)
c.13213T>A (p.Ser4405Thr)
c.13210T>A (p.Ser4404Thr)
c.13207T>A (p.Ser4403Thr)
c.13159T>A (p.Ser4387Thr)
c.12856T>A (p.Ser4286Thr)
c.13390T>A (p.Ser4464Thr)
c.13387T>A (p.Ser4463Thr)
c.13369T>A (p.Ser4457Thr)
c.13345T>A (p.Ser4449Thr)
c.13342T>A (p.Ser4448Thr)
c.13339T>A (p.Ser4447Thr)
c.13291T>A (p.Ser4431Thr)
c.13279T>A (p.Ser4427Thr)
c.13141T>A (p.Ser4381Thr)
c.12988T>A (p.Ser4330Thr)
Xg.53534021A=CA2429868886HUWE1c.12792T= (p.Pro4264=)
c.13008T= (p.Pro4336=)
c.3475T=
n.321T=
c.12981T= (p.Pro4327=)
c.13257T= (p.Pro4419=)
c.13254T= (p.Pro4418=)
c.13212T= (p.Pro4404=)
c.13209T= (p.Pro4403=)
c.13206T= (p.Pro4402=)
c.13158T= (p.Pro4386=)
c.12855T= (p.Pro4285=)
c.13389T= (p.Pro4463=)
c.13386T= (p.Pro4462=)
c.13368T= (p.Pro4456=)
c.13344T= (p.Pro4448=)
c.13341T= (p.Pro4447=)
c.13338T= (p.Pro4446=)
c.13290T= (p.Pro4430=)
c.13278T= (p.Pro4426=)
c.13140T= (p.Pro4380=)
c.12987T= (p.Pro4329=)
Xg.53534021A>CCA516418227HUWE1c.12792T>G (p.Pro4264=)
c.13008T>G (p.Pro4336=)
c.3475T>G
n.321T>G
c.12981T>G (p.Pro4327=)
c.13257T>G (p.Pro4419=)
c.13254T>G (p.Pro4418=)
c.13212T>G (p.Pro4404=)
c.13209T>G (p.Pro4403=)
c.13206T>G (p.Pro4402=)
c.13158T>G (p.Pro4386=)
c.12855T>G (p.Pro4285=)
c.13389T>G (p.Pro4463=)
c.13386T>G (p.Pro4462=)
c.13368T>G (p.Pro4456=)
c.13344T>G (p.Pro4448=)
c.13341T>G (p.Pro4447=)
c.13338T>G (p.Pro4446=)
c.13290T>G (p.Pro4430=)
c.13278T>G (p.Pro4426=)
c.13140T>G (p.Pro4380=)
c.12987T>G (p.Pro4329=)
Xg.53534021A>GCA10421106HUWE1c.12792T>C (p.Pro4264=)
c.13008T>C (p.Pro4336=)
c.3475T>C
n.321T>C
c.12981T>C (p.Pro4327=)
c.13257T>C (p.Pro4419=)
c.13254T>C (p.Pro4418=)
c.13212T>C (p.Pro4404=)
c.13209T>C (p.Pro4403=)
c.13206T>C (p.Pro4402=)
c.13158T>C (p.Pro4386=)
c.12855T>C (p.Pro4285=)
c.13389T>C (p.Pro4463=)
c.13386T>C (p.Pro4462=)
c.13368T>C (p.Pro4456=)
c.13344T>C (p.Pro4448=)
c.13341T>C (p.Pro4447=)
c.13338T>C (p.Pro4446=)
c.13290T>C (p.Pro4430=)
c.13278T>C (p.Pro4426=)
c.13140T>C (p.Pro4380=)
c.12987T>C (p.Pro4329=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53534021A>TCA516418231HUWE1c.12792T>A (p.Pro4264=)
c.13008T>A (p.Pro4336=)
c.3475T>A
n.321T>A
c.12981T>A (p.Pro4327=)
c.13257T>A (p.Pro4419=)
c.13254T>A (p.Pro4418=)
c.13212T>A (p.Pro4404=)
c.13209T>A (p.Pro4403=)
c.13206T>A (p.Pro4402=)
c.13158T>A (p.Pro4386=)
c.12855T>A (p.Pro4285=)
c.13389T>A (p.Pro4463=)
c.13386T>A (p.Pro4462=)
c.13368T>A (p.Pro4456=)
c.13344T>A (p.Pro4448=)
c.13341T>A (p.Pro4447=)
c.13338T>A (p.Pro4446=)
c.13290T>A (p.Pro4430=)
c.13278T>A (p.Pro4426=)
c.13140T>A (p.Pro4380=)
c.12987T>A (p.Pro4329=)
Xg.53534022G>ACA413143576HUWE1c.12791C>T (p.Pro4264Leu)
c.13007C>T (p.Pro4336Leu)
c.3474C>T
n.320C>T
c.12980C>T (p.Pro4327Leu)
c.13256C>T (p.Pro4419Leu)
c.13253C>T (p.Pro4418Leu)
c.13211C>T (p.Pro4404Leu)
c.13208C>T (p.Pro4403Leu)
c.13205C>T (p.Pro4402Leu)
c.13157C>T (p.Pro4386Leu)
c.12854C>T (p.Pro4285Leu)
c.13388C>T (p.Pro4463Leu)
c.13385C>T (p.Pro4462Leu)
c.13367C>T (p.Pro4456Leu)
c.13343C>T (p.Pro4448Leu)
c.13340C>T (p.Pro4447Leu)
c.13337C>T (p.Pro4446Leu)
c.13289C>T (p.Pro4430Leu)
c.13277C>T (p.Pro4426Leu)
c.13139C>T (p.Pro4380Leu)
c.12986C>T (p.Pro4329Leu)
Xg.53534022G>CCA413143589HUWE1c.12791C>G (p.Pro4264Arg)
c.13007C>G (p.Pro4336Arg)
c.3474C>G
n.320C>G
c.12980C>G (p.Pro4327Arg)
c.13256C>G (p.Pro4419Arg)
c.13253C>G (p.Pro4418Arg)
c.13211C>G (p.Pro4404Arg)
c.13208C>G (p.Pro4403Arg)
c.13205C>G (p.Pro4402Arg)
c.13157C>G (p.Pro4386Arg)
c.12854C>G (p.Pro4285Arg)
c.13388C>G (p.Pro4463Arg)
c.13385C>G (p.Pro4462Arg)
c.13367C>G (p.Pro4456Arg)
c.13343C>G (p.Pro4448Arg)
c.13340C>G (p.Pro4447Arg)
c.13337C>G (p.Pro4446Arg)
c.13289C>G (p.Pro4430Arg)
c.13277C>G (p.Pro4426Arg)
c.13139C>G (p.Pro4380Arg)
c.12986C>G (p.Pro4329Arg)
Xg.53534022G>TCA413143585HUWE1c.12791C>A (p.Pro4264His)
c.13007C>A (p.Pro4336His)
c.3474C>A
n.320C>A
c.12980C>A (p.Pro4327His)
c.13256C>A (p.Pro4419His)
c.13253C>A (p.Pro4418His)
c.13211C>A (p.Pro4404His)
c.13208C>A (p.Pro4403His)
c.13205C>A (p.Pro4402His)
c.13157C>A (p.Pro4386His)
c.12854C>A (p.Pro4285His)
c.13388C>A (p.Pro4463His)
c.13385C>A (p.Pro4462His)
c.13367C>A (p.Pro4456His)
c.13343C>A (p.Pro4448His)
c.13340C>A (p.Pro4447His)
c.13337C>A (p.Pro4446His)
c.13289C>A (p.Pro4430His)
c.13277C>A (p.Pro4426His)
c.13139C>A (p.Pro4380His)
c.12986C>A (p.Pro4329His)
Xg.53534023G>ACA413143602HUWE1c.12790C>T (p.Pro4264Ser)
c.13006C>T (p.Pro4336Ser)
c.3473C>T
n.319C>T
c.12979C>T (p.Pro4327Ser)
c.13255C>T (p.Pro4419Ser)
c.13252C>T (p.Pro4418Ser)
c.13210C>T (p.Pro4404Ser)
c.13207C>T (p.Pro4403Ser)
c.13204C>T (p.Pro4402Ser)
c.13156C>T (p.Pro4386Ser)
c.12853C>T (p.Pro4285Ser)
c.13387C>T (p.Pro4463Ser)
c.13384C>T (p.Pro4462Ser)
c.13366C>T (p.Pro4456Ser)
c.13342C>T (p.Pro4448Ser)
c.13339C>T (p.Pro4447Ser)
c.13336C>T (p.Pro4446Ser)
c.13288C>T (p.Pro4430Ser)
c.13276C>T (p.Pro4426Ser)
c.13138C>T (p.Pro4380Ser)
c.12985C>T (p.Pro4329Ser)
Xg.53534023G>CCA413143610HUWE1c.12790C>G (p.Pro4264Ala)
c.13006C>G (p.Pro4336Ala)
c.3473C>G
n.319C>G
c.12979C>G (p.Pro4327Ala)
c.13255C>G (p.Pro4419Ala)
c.13252C>G (p.Pro4418Ala)
c.13210C>G (p.Pro4404Ala)
c.13207C>G (p.Pro4403Ala)
c.13204C>G (p.Pro4402Ala)
c.13156C>G (p.Pro4386Ala)
c.12853C>G (p.Pro4285Ala)
c.13387C>G (p.Pro4463Ala)
c.13384C>G (p.Pro4462Ala)
c.13366C>G (p.Pro4456Ala)
c.13342C>G (p.Pro4448Ala)
c.13339C>G (p.Pro4447Ala)
c.13336C>G (p.Pro4446Ala)
c.13288C>G (p.Pro4430Ala)
c.13276C>G (p.Pro4426Ala)
c.13138C>G (p.Pro4380Ala)
c.12985C>G (p.Pro4329Ala)
Xg.53534023G>TCA413143606HUWE1c.12790C>A (p.Pro4264Thr)
c.13006C>A (p.Pro4336Thr)
c.3473C>A
n.319C>A
c.12979C>A (p.Pro4327Thr)
c.13255C>A (p.Pro4419Thr)
c.13252C>A (p.Pro4418Thr)
c.13210C>A (p.Pro4404Thr)
c.13207C>A (p.Pro4403Thr)
c.13204C>A (p.Pro4402Thr)
c.13156C>A (p.Pro4386Thr)
c.12853C>A (p.Pro4285Thr)
c.13387C>A (p.Pro4463Thr)
c.13384C>A (p.Pro4462Thr)
c.13366C>A (p.Pro4456Thr)
c.13342C>A (p.Pro4448Thr)
c.13339C>A (p.Pro4447Thr)
c.13336C>A (p.Pro4446Thr)
c.13288C>A (p.Pro4430Thr)
c.13276C>A (p.Pro4426Thr)
c.13138C>A (p.Pro4380Thr)
c.12985C>A (p.Pro4329Thr)
Xg.53534024C>ACA516418241HUWE1c.12789G>T (p.Leu4263=)
c.13005G>T (p.Leu4335=)
c.3472G>T
n.318G>T
c.12978G>T (p.Leu4326=)
c.13254G>T (p.Leu4418=)
c.13251G>T (p.Leu4417=)
c.13209G>T (p.Leu4403=)
c.13206G>T (p.Leu4402=)
c.13203G>T (p.Leu4401=)
c.13155G>T (p.Leu4385=)
c.12852G>T (p.Leu4284=)
c.13386G>T (p.Leu4462=)
c.13383G>T (p.Leu4461=)
c.13365G>T (p.Leu4455=)
c.13341G>T (p.Leu4447=)
c.13338G>T (p.Leu4446=)
c.13335G>T (p.Leu4445=)
c.13287G>T (p.Leu4429=)
c.13275G>T (p.Leu4425=)
c.13137G>T (p.Leu4379=)
c.12984G>T (p.Leu4328=)
Xg.53534024C=CA2429868887HUWE1c.12789G= (p.Leu4263=)
c.13005G= (p.Leu4335=)
c.3472G=
n.318G=
c.12978G= (p.Leu4326=)
c.13254G= (p.Leu4418=)
c.13251G= (p.Leu4417=)
c.13209G= (p.Leu4403=)
c.13206G= (p.Leu4402=)
c.13203G= (p.Leu4401=)
c.13155G= (p.Leu4385=)
c.12852G= (p.Leu4284=)
c.13386G= (p.Leu4462=)
c.13383G= (p.Leu4461=)
c.13365G= (p.Leu4455=)
c.13341G= (p.Leu4447=)
c.13338G= (p.Leu4446=)
c.13335G= (p.Leu4445=)
c.13287G= (p.Leu4429=)
c.13275G= (p.Leu4425=)
c.13137G= (p.Leu4379=)
c.12984G= (p.Leu4328=)
Xg.53534024C>GCA516418242HUWE1c.12789G>C (p.Leu4263=)
c.13005G>C (p.Leu4335=)
c.3472G>C
n.318G>C
c.12978G>C (p.Leu4326=)
c.13254G>C (p.Leu4418=)
c.13251G>C (p.Leu4417=)
c.13209G>C (p.Leu4403=)
c.13206G>C (p.Leu4402=)
c.13203G>C (p.Leu4401=)
c.13155G>C (p.Leu4385=)
c.12852G>C (p.Leu4284=)
c.13386G>C (p.Leu4462=)
c.13383G>C (p.Leu4461=)
c.13365G>C (p.Leu4455=)
c.13341G>C (p.Leu4447=)
c.13338G>C (p.Leu4446=)
c.13335G>C (p.Leu4445=)
c.13287G>C (p.Leu4429=)
c.13275G>C (p.Leu4425=)
c.13137G>C (p.Leu4379=)
c.12984G>C (p.Leu4328=)
Xg.53534024C>TCA10421107HUWE1c.12789G>A (p.Leu4263=)
c.13005G>A (p.Leu4335=)
c.3472G>A
n.318G>A
c.12978G>A (p.Leu4326=)
c.13254G>A (p.Leu4418=)
c.13251G>A (p.Leu4417=)
c.13209G>A (p.Leu4403=)
c.13206G>A (p.Leu4402=)
c.13203G>A (p.Leu4401=)
c.13155G>A (p.Leu4385=)
c.12852G>A (p.Leu4284=)
c.13386G>A (p.Leu4462=)
c.13383G>A (p.Leu4461=)
c.13365G>A (p.Leu4455=)
c.13341G>A (p.Leu4447=)
c.13338G>A (p.Leu4446=)
c.13335G>A (p.Leu4445=)
c.13287G>A (p.Leu4429=)
c.13275G>A (p.Leu4425=)
c.13137G>A (p.Leu4379=)
c.12984G>A (p.Leu4328=)
 dbSNP ExAC
Xg.53534025A>CCA413143622HUWE1c.12788T>G (p.Leu4263Arg)
c.13004T>G (p.Leu4335Arg)
c.3471T>G
n.317T>G
c.12977T>G (p.Leu4326Arg)
c.13253T>G (p.Leu4418Arg)
c.13250T>G (p.Leu4417Arg)
c.13208T>G (p.Leu4403Arg)
c.13205T>G (p.Leu4402Arg)
c.13202T>G (p.Leu4401Arg)
c.13154T>G (p.Leu4385Arg)
c.12851T>G (p.Leu4284Arg)
c.13385T>G (p.Leu4462Arg)
c.13382T>G (p.Leu4461Arg)
c.13364T>G (p.Leu4455Arg)
c.13340T>G (p.Leu4447Arg)
c.13337T>G (p.Leu4446Arg)
c.13334T>G (p.Leu4445Arg)
c.13286T>G (p.Leu4429Arg)
c.13274T>G (p.Leu4425Arg)
c.13136T>G (p.Leu4379Arg)
c.12983T>G (p.Leu4328Arg)
Xg.53534025A>GCA413143626HUWE1c.12788T>C (p.Leu4263Pro)
c.13004T>C (p.Leu4335Pro)
c.3471T>C
n.317T>C
c.12977T>C (p.Leu4326Pro)
c.13253T>C (p.Leu4418Pro)
c.13250T>C (p.Leu4417Pro)
c.13208T>C (p.Leu4403Pro)
c.13205T>C (p.Leu4402Pro)
c.13202T>C (p.Leu4401Pro)
c.13154T>C (p.Leu4385Pro)
c.12851T>C (p.Leu4284Pro)
c.13385T>C (p.Leu4462Pro)
c.13382T>C (p.Leu4461Pro)
c.13364T>C (p.Leu4455Pro)
c.13340T>C (p.Leu4447Pro)
c.13337T>C (p.Leu4446Pro)
c.13334T>C (p.Leu4445Pro)
c.13286T>C (p.Leu4429Pro)
c.13274T>C (p.Leu4425Pro)
c.13136T>C (p.Leu4379Pro)
c.12983T>C (p.Leu4328Pro)
Xg.53534025A>TCA413143629HUWE1c.12788T>A (p.Leu4263Gln)
c.13004T>A (p.Leu4335Gln)
c.3471T>A
n.317T>A
c.12977T>A (p.Leu4326Gln)
c.13253T>A (p.Leu4418Gln)
c.13250T>A (p.Leu4417Gln)
c.13208T>A (p.Leu4403Gln)
c.13205T>A (p.Leu4402Gln)
c.13202T>A (p.Leu4401Gln)
c.13154T>A (p.Leu4385Gln)
c.12851T>A (p.Leu4284Gln)
c.13385T>A (p.Leu4462Gln)
c.13382T>A (p.Leu4461Gln)
c.13364T>A (p.Leu4455Gln)
c.13340T>A (p.Leu4447Gln)
c.13337T>A (p.Leu4446Gln)
c.13334T>A (p.Leu4445Gln)
c.13286T>A (p.Leu4429Gln)
c.13274T>A (p.Leu4425Gln)
c.13136T>A (p.Leu4379Gln)
c.12983T>A (p.Leu4328Gln)
Xg.53534026G>ACA516418252HUWE1c.12787C>T (p.Leu4263=)
c.13003C>T (p.Leu4335=)
c.3470C>T
n.316C>T
c.12976C>T (p.Leu4326=)
c.13252C>T (p.Leu4418=)
c.13249C>T (p.Leu4417=)
c.13207C>T (p.Leu4403=)
c.13204C>T (p.Leu4402=)
c.13201C>T (p.Leu4401=)
c.13153C>T (p.Leu4385=)
c.12850C>T (p.Leu4284=)
c.13384C>T (p.Leu4462=)
c.13381C>T (p.Leu4461=)
c.13363C>T (p.Leu4455=)
c.13339C>T (p.Leu4447=)
c.13336C>T (p.Leu4446=)
c.13333C>T (p.Leu4445=)
c.13285C>T (p.Leu4429=)
c.13273C>T (p.Leu4425=)
c.13135C>T (p.Leu4379=)
c.12982C>T (p.Leu4328=)
Xg.53534026G>CCA413143633HUWE1c.12787C>G (p.Leu4263Val)
c.13003C>G (p.Leu4335Val)
c.3470C>G
n.316C>G
c.12976C>G (p.Leu4326Val)
c.13252C>G (p.Leu4418Val)
c.13249C>G (p.Leu4417Val)
c.13207C>G (p.Leu4403Val)
c.13204C>G (p.Leu4402Val)
c.13201C>G (p.Leu4401Val)
c.13153C>G (p.Leu4385Val)
c.12850C>G (p.Leu4284Val)
c.13384C>G (p.Leu4462Val)
c.13381C>G (p.Leu4461Val)
c.13363C>G (p.Leu4455Val)
c.13339C>G (p.Leu4447Val)
c.13336C>G (p.Leu4446Val)
c.13333C>G (p.Leu4445Val)
c.13285C>G (p.Leu4429Val)
c.13273C>G (p.Leu4425Val)
c.13135C>G (p.Leu4379Val)
c.12982C>G (p.Leu4328Val)
Xg.53534026G>TCA413143635HUWE1c.12787C>A (p.Leu4263Met)
c.13003C>A (p.Leu4335Met)
c.3470C>A
n.316C>A
c.12976C>A (p.Leu4326Met)
c.13252C>A (p.Leu4418Met)
c.13249C>A (p.Leu4417Met)
c.13207C>A (p.Leu4403Met)
c.13204C>A (p.Leu4402Met)
c.13201C>A (p.Leu4401Met)
c.13153C>A (p.Leu4385Met)
c.12850C>A (p.Leu4284Met)
c.13384C>A (p.Leu4462Met)
c.13381C>A (p.Leu4461Met)
c.13363C>A (p.Leu4455Met)
c.13339C>A (p.Leu4447Met)
c.13336C>A (p.Leu4446Met)
c.13333C>A (p.Leu4445Met)
c.13285C>A (p.Leu4429Met)
c.13273C>A (p.Leu4425Met)
c.13135C>A (p.Leu4379Met)
c.12982C>A (p.Leu4328Met)
Xg.53534027G>ACA329183331HUWE1c.12786C>T (p.Arg4262=)
c.13002C>T (p.Arg4334=)
c.3469C>T
n.315C>T
c.12975C>T (p.Arg4325=)
c.13251C>T (p.Arg4417=)
c.13248C>T (p.Arg4416=)
c.13206C>T (p.Arg4402=)
c.13203C>T (p.Arg4401=)
c.13200C>T (p.Arg4400=)
c.13152C>T (p.Arg4384=)
c.12849C>T (p.Arg4283=)
c.13383C>T (p.Arg4461=)
c.13380C>T (p.Arg4460=)
c.13362C>T (p.Arg4454=)
c.13338C>T (p.Arg4446=)
c.13335C>T (p.Arg4445=)
c.13332C>T (p.Arg4444=)
c.13284C>T (p.Arg4428=)
c.13272C>T (p.Arg4424=)
c.13134C>T (p.Arg4378=)
c.12981C>T (p.Arg4327=)
 dbSNP
Xg.53534027G>CCA516418256HUWE1c.12786C>G (p.Arg4262=)
c.13002C>G (p.Arg4334=)
c.3469C>G
n.315C>G
c.12975C>G (p.Arg4325=)
c.13251C>G (p.Arg4417=)
c.13248C>G (p.Arg4416=)
c.13206C>G (p.Arg4402=)
c.13203C>G (p.Arg4401=)
c.13200C>G (p.Arg4400=)
c.13152C>G (p.Arg4384=)
c.12849C>G (p.Arg4283=)
c.13383C>G (p.Arg4461=)
c.13380C>G (p.Arg4460=)
c.13362C>G (p.Arg4454=)
c.13338C>G (p.Arg4446=)
c.13335C>G (p.Arg4445=)
c.13332C>G (p.Arg4444=)
c.13284C>G (p.Arg4428=)
c.13272C>G (p.Arg4424=)
c.13134C>G (p.Arg4378=)
c.12981C>G (p.Arg4327=)
Xg.53534027G=CA2429868888HUWE1c.12786C= (p.Arg4262=)
c.13002C= (p.Arg4334=)
c.3469C=
n.315C=
c.12975C= (p.Arg4325=)
c.13251C= (p.Arg4417=)
c.13248C= (p.Arg4416=)
c.13206C= (p.Arg4402=)
c.13203C= (p.Arg4401=)
c.13200C= (p.Arg4400=)
c.13152C= (p.Arg4384=)
c.12849C= (p.Arg4283=)
c.13383C= (p.Arg4461=)
c.13380C= (p.Arg4460=)
c.13362C= (p.Arg4454=)
c.13338C= (p.Arg4446=)
c.13335C= (p.Arg4445=)
c.13332C= (p.Arg4444=)
c.13284C= (p.Arg4428=)
c.13272C= (p.Arg4424=)
c.13134C= (p.Arg4378=)
c.12981C= (p.Arg4327=)
Xg.53534027G>TCA516418259HUWE1c.12786C>A (p.Arg4262=)
c.13002C>A (p.Arg4334=)
c.3469C>A
n.315C>A
c.12975C>A (p.Arg4325=)
c.13251C>A (p.Arg4417=)
c.13248C>A (p.Arg4416=)
c.13206C>A (p.Arg4402=)
c.13203C>A (p.Arg4401=)
c.13200C>A (p.Arg4400=)
c.13152C>A (p.Arg4384=)
c.12849C>A (p.Arg4283=)
c.13383C>A (p.Arg4461=)
c.13380C>A (p.Arg4460=)
c.13362C>A (p.Arg4454=)
c.13338C>A (p.Arg4446=)
c.13335C>A (p.Arg4445=)
c.13332C>A (p.Arg4444=)
c.13284C>A (p.Arg4428=)
c.13272C>A (p.Arg4424=)
c.13134C>A (p.Arg4378=)
c.12981C>A (p.Arg4327=)
Xg.53534028C>ACA413143642HUWE1c.12785G>T (p.Arg4262Leu)
c.13001G>T (p.Arg4334Leu)
c.3468G>T
n.314G>T
c.12974G>T (p.Arg4325Leu)
c.13250G>T (p.Arg4417Leu)
c.13247G>T (p.Arg4416Leu)
c.13205G>T (p.Arg4402Leu)
c.13202G>T (p.Arg4401Leu)
c.13199G>T (p.Arg4400Leu)
c.13151G>T (p.Arg4384Leu)
c.12848G>T (p.Arg4283Leu)
c.13382G>T (p.Arg4461Leu)
c.13379G>T (p.Arg4460Leu)
c.13361G>T (p.Arg4454Leu)
c.13337G>T (p.Arg4446Leu)
c.13334G>T (p.Arg4445Leu)
c.13331G>T (p.Arg4444Leu)
c.13283G>T (p.Arg4428Leu)
c.13271G>T (p.Arg4424Leu)
c.13133G>T (p.Arg4378Leu)
c.12980G>T (p.Arg4327Leu)
Xg.53534028C=CA2429868889HUWE1c.12785G= (p.Arg4262=)
c.13001G= (p.Arg4334=)
c.3468G=
n.314G=
c.12974G= (p.Arg4325=)
c.13250G= (p.Arg4417=)
c.13247G= (p.Arg4416=)
c.13205G= (p.Arg4402=)
c.13202G= (p.Arg4401=)
c.13199G= (p.Arg4400=)
c.13151G= (p.Arg4384=)
c.12848G= (p.Arg4283=)
c.13382G= (p.Arg4461=)
c.13379G= (p.Arg4460=)
c.13361G= (p.Arg4454=)
c.13337G= (p.Arg4446=)
c.13334G= (p.Arg4445=)
c.13331G= (p.Arg4444=)
c.13283G= (p.Arg4428=)
c.13271G= (p.Arg4424=)
c.13133G= (p.Arg4378=)
c.12980G= (p.Arg4327=)
Xg.53534028C>GCA413143637HUWE1c.12785G>C (p.Arg4262Pro)
c.13001G>C (p.Arg4334Pro)
c.3468G>C
n.314G>C
c.12974G>C (p.Arg4325Pro)
c.13250G>C (p.Arg4417Pro)
c.13247G>C (p.Arg4416Pro)
c.13205G>C (p.Arg4402Pro)
c.13202G>C (p.Arg4401Pro)
c.13199G>C (p.Arg4400Pro)
c.13151G>C (p.Arg4384Pro)
c.12848G>C (p.Arg4283Pro)
c.13382G>C (p.Arg4461Pro)
c.13379G>C (p.Arg4460Pro)
c.13361G>C (p.Arg4454Pro)
c.13337G>C (p.Arg4446Pro)
c.13334G>C (p.Arg4445Pro)
c.13331G>C (p.Arg4444Pro)
c.13283G>C (p.Arg4428Pro)
c.13271G>C (p.Arg4424Pro)
c.13133G>C (p.Arg4378Pro)
c.12980G>C (p.Arg4327Pro)
Xg.53534028C>TCA10421108HUWE1c.12785G>A (p.Arg4262His)
c.13001G>A (p.Arg4334His)
c.3468G>A
n.314G>A
c.12974G>A (p.Arg4325His)
c.13250G>A (p.Arg4417His)
c.13247G>A (p.Arg4416His)
c.13205G>A (p.Arg4402His)
c.13202G>A (p.Arg4401His)
c.13199G>A (p.Arg4400His)
c.13151G>A (p.Arg4384His)
c.12848G>A (p.Arg4283His)
c.13382G>A (p.Arg4461His)
c.13379G>A (p.Arg4460His)
c.13361G>A (p.Arg4454His)
c.13337G>A (p.Arg4446His)
c.13334G>A (p.Arg4445His)
c.13331G>A (p.Arg4444His)
c.13283G>A (p.Arg4428His)
c.13271G>A (p.Arg4424His)
c.13133G>A (p.Arg4378His)
c.12980G>A (p.Arg4327His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53534029G>ACA413143652HUWE1c.12784C>T (p.Arg4262Cys)
c.13000C>T (p.Arg4334Cys)
c.3467C>T
n.313C>T
c.12973C>T (p.Arg4325Cys)
c.13249C>T (p.Arg4417Cys)
c.13246C>T (p.Arg4416Cys)
c.13204C>T (p.Arg4402Cys)
c.13201C>T (p.Arg4401Cys)
c.13198C>T (p.Arg4400Cys)
c.13150C>T (p.Arg4384Cys)
c.12847C>T (p.Arg4283Cys)
c.13381C>T (p.Arg4461Cys)
c.13378C>T (p.Arg4460Cys)
c.13360C>T (p.Arg4454Cys)
c.13336C>T (p.Arg4446Cys)
c.13333C>T (p.Arg4445Cys)
c.13330C>T (p.Arg4444Cys)
c.13282C>T (p.Arg4428Cys)
c.13270C>T (p.Arg4424Cys)
c.13132C>T (p.Arg4378Cys)
c.12979C>T (p.Arg4327Cys)
 gnomAD v4
Xg.53534029G>CCA413143656HUWE1c.12784C>G (p.Arg4262Gly)
c.13000C>G (p.Arg4334Gly)
c.3467C>G
n.313C>G
c.12973C>G (p.Arg4325Gly)
c.13249C>G (p.Arg4417Gly)
c.13246C>G (p.Arg4416Gly)
c.13204C>G (p.Arg4402Gly)
c.13201C>G (p.Arg4401Gly)
c.13198C>G (p.Arg4400Gly)
c.13150C>G (p.Arg4384Gly)
c.12847C>G (p.Arg4283Gly)
c.13381C>G (p.Arg4461Gly)
c.13378C>G (p.Arg4460Gly)
c.13360C>G (p.Arg4454Gly)
c.13336C>G (p.Arg4446Gly)
c.13333C>G (p.Arg4445Gly)
c.13330C>G (p.Arg4444Gly)
c.13282C>G (p.Arg4428Gly)
c.13270C>G (p.Arg4424Gly)
c.13132C>G (p.Arg4378Gly)
c.12979C>G (p.Arg4327Gly)
Xg.53534029G>TCA413143658HUWE1c.12784C>A (p.Arg4262Ser)
c.13000C>A (p.Arg4334Ser)
c.3467C>A
n.313C>A
c.12973C>A (p.Arg4325Ser)
c.13249C>A (p.Arg4417Ser)
c.13246C>A (p.Arg4416Ser)
c.13204C>A (p.Arg4402Ser)
c.13201C>A (p.Arg4401Ser)
c.13198C>A (p.Arg4400Ser)
c.13150C>A (p.Arg4384Ser)
c.12847C>A (p.Arg4283Ser)
c.13381C>A (p.Arg4461Ser)
c.13378C>A (p.Arg4460Ser)
c.13360C>A (p.Arg4454Ser)
c.13336C>A (p.Arg4446Ser)
c.13333C>A (p.Arg4445Ser)
c.13330C>A (p.Arg4444Ser)
c.13282C>A (p.Arg4428Ser)
c.13270C>A (p.Arg4424Ser)
c.13132C>A (p.Arg4378Ser)
c.12979C>A (p.Arg4327Ser)
Xg.53534030A>CCA413143665HUWE1c.12783T>G (p.Asp4261Glu)
c.12999T>G (p.Asp4333Glu)
c.3466T>G
n.312T>G
c.12972T>G (p.Asp4324Glu)
c.13248T>G (p.Asp4416Glu)
c.13245T>G (p.Asp4415Glu)
c.13203T>G (p.Asp4401Glu)
c.13200T>G (p.Asp4400Glu)
c.13197T>G (p.Asp4399Glu)
c.13149T>G (p.Asp4383Glu)
c.12846T>G (p.Asp4282Glu)
c.13380T>G (p.Asp4460Glu)
c.13377T>G (p.Asp4459Glu)
c.13359T>G (p.Asp4453Glu)
c.13335T>G (p.Asp4445Glu)
c.13332T>G (p.Asp4444Glu)
c.13329T>G (p.Asp4443Glu)
c.13281T>G (p.Asp4427Glu)
c.13269T>G (p.Asp4423Glu)
c.13131T>G (p.Asp4377Glu)
c.12978T>G (p.Asp4326Glu)
Xg.53534030A>GCA516418291HUWE1c.12783T>C (p.Asp4261=)
c.12999T>C (p.Asp4333=)
c.3466T>C
n.312T>C
c.12972T>C (p.Asp4324=)
c.13248T>C (p.Asp4416=)
c.13245T>C (p.Asp4415=)
c.13203T>C (p.Asp4401=)
c.13200T>C (p.Asp4400=)
c.13197T>C (p.Asp4399=)
c.13149T>C (p.Asp4383=)
c.12846T>C (p.Asp4282=)
c.13380T>C (p.Asp4460=)
c.13377T>C (p.Asp4459=)
c.13359T>C (p.Asp4453=)
c.13335T>C (p.Asp4445=)
c.13332T>C (p.Asp4444=)
c.13329T>C (p.Asp4443=)
c.13281T>C (p.Asp4427=)
c.13269T>C (p.Asp4423=)
c.13131T>C (p.Asp4377=)
c.12978T>C (p.Asp4326=)
Xg.53534030A>TCA413143668HUWE1c.12783T>A (p.Asp4261Glu)
c.12999T>A (p.Asp4333Glu)
c.3466T>A
n.312T>A
c.12972T>A (p.Asp4324Glu)
c.13248T>A (p.Asp4416Glu)
c.13245T>A (p.Asp4415Glu)
c.13203T>A (p.Asp4401Glu)
c.13200T>A (p.Asp4400Glu)
c.13197T>A (p.Asp4399Glu)
c.13149T>A (p.Asp4383Glu)
c.12846T>A (p.Asp4282Glu)
c.13380T>A (p.Asp4460Glu)
c.13377T>A (p.Asp4459Glu)
c.13359T>A (p.Asp4453Glu)
c.13335T>A (p.Asp4445Glu)
c.13332T>A (p.Asp4444Glu)
c.13329T>A (p.Asp4443Glu)
c.13281T>A (p.Asp4427Glu)
c.13269T>A (p.Asp4423Glu)
c.13131T>A (p.Asp4377Glu)
c.12978T>A (p.Asp4326Glu)
Xg.53534031T>ACA413143678HUWE1c.12782A>T (p.Asp4261Val)
c.12998A>T (p.Asp4333Val)
c.3465A>T
n.311A>T
c.12971A>T (p.Asp4324Val)
c.13247A>T (p.Asp4416Val)
c.13244A>T (p.Asp4415Val)
c.13202A>T (p.Asp4401Val)
c.13199A>T (p.Asp4400Val)
c.13196A>T (p.Asp4399Val)
c.13148A>T (p.Asp4383Val)
c.12845A>T (p.Asp4282Val)
c.13379A>T (p.Asp4460Val)
c.13376A>T (p.Asp4459Val)
c.13358A>T (p.Asp4453Val)
c.13334A>T (p.Asp4445Val)
c.13331A>T (p.Asp4444Val)
c.13328A>T (p.Asp4443Val)
c.13280A>T (p.Asp4427Val)
c.13268A>T (p.Asp4423Val)
c.13130A>T (p.Asp4377Val)
c.12977A>T (p.Asp4326Val)
Xg.53534031T>CCA413143671HUWE1c.12782A>G (p.Asp4261Gly)
c.12998A>G (p.Asp4333Gly)
c.3465A>G
n.311A>G
c.12971A>G (p.Asp4324Gly)
c.13247A>G (p.Asp4416Gly)
c.13244A>G (p.Asp4415Gly)
c.13202A>G (p.Asp4401Gly)
c.13199A>G (p.Asp4400Gly)
c.13196A>G (p.Asp4399Gly)
c.13148A>G (p.Asp4383Gly)
c.12845A>G (p.Asp4282Gly)
c.13379A>G (p.Asp4460Gly)
c.13376A>G (p.Asp4459Gly)
c.13358A>G (p.Asp4453Gly)
c.13334A>G (p.Asp4445Gly)
c.13331A>G (p.Asp4444Gly)
c.13328A>G (p.Asp4443Gly)
c.13280A>G (p.Asp4427Gly)
c.13268A>G (p.Asp4423Gly)
c.13130A>G (p.Asp4377Gly)
c.12977A>G (p.Asp4326Gly)
Xg.53534031T>GCA413143675HUWE1c.12782A>C (p.Asp4261Ala)
c.12998A>C (p.Asp4333Ala)
c.3465A>C
n.311A>C
c.12971A>C (p.Asp4324Ala)
c.13247A>C (p.Asp4416Ala)
c.13244A>C (p.Asp4415Ala)
c.13202A>C (p.Asp4401Ala)
c.13199A>C (p.Asp4400Ala)
c.13196A>C (p.Asp4399Ala)
c.13148A>C (p.Asp4383Ala)
c.12845A>C (p.Asp4282Ala)
c.13379A>C (p.Asp4460Ala)
c.13376A>C (p.Asp4459Ala)
c.13358A>C (p.Asp4453Ala)
c.13334A>C (p.Asp4445Ala)
c.13331A>C (p.Asp4444Ala)
c.13328A>C (p.Asp4443Ala)
c.13280A>C (p.Asp4427Ala)
c.13268A>C (p.Asp4423Ala)
c.13130A>C (p.Asp4377Ala)
c.12977A>C (p.Asp4326Ala)
Xg.53534032C>ACA413143681HUWE1c.12781G>T (p.Asp4261Tyr)
c.12997G>T (p.Asp4333Tyr)
c.3464G>T
n.310G>T
c.12970G>T (p.Asp4324Tyr)
c.13246G>T (p.Asp4416Tyr)
c.13243G>T (p.Asp4415Tyr)
c.13201G>T (p.Asp4401Tyr)
c.13198G>T (p.Asp4400Tyr)
c.13195G>T (p.Asp4399Tyr)
c.13147G>T (p.Asp4383Tyr)
c.12844G>T (p.Asp4282Tyr)
c.13378G>T (p.Asp4460Tyr)
c.13375G>T (p.Asp4459Tyr)
c.13357G>T (p.Asp4453Tyr)
c.13333G>T (p.Asp4445Tyr)
c.13330G>T (p.Asp4444Tyr)
c.13327G>T (p.Asp4443Tyr)
c.13279G>T (p.Asp4427Tyr)
c.13267G>T (p.Asp4423Tyr)
c.13129G>T (p.Asp4377Tyr)
c.12976G>T (p.Asp4326Tyr)
Xg.53534032C>GCA413143682HUWE1c.12781G>C (p.Asp4261His)
c.12997G>C (p.Asp4333His)
c.3464G>C
n.310G>C
c.12970G>C (p.Asp4324His)
c.13246G>C (p.Asp4416His)
c.13243G>C (p.Asp4415His)
c.13201G>C (p.Asp4401His)
c.13198G>C (p.Asp4400His)
c.13195G>C (p.Asp4399His)
c.13147G>C (p.Asp4383His)
c.12844G>C (p.Asp4282His)
c.13378G>C (p.Asp4460His)
c.13375G>C (p.Asp4459His)
c.13357G>C (p.Asp4453His)
c.13333G>C (p.Asp4445His)
c.13330G>C (p.Asp4444His)
c.13327G>C (p.Asp4443His)
c.13279G>C (p.Asp4427His)
c.13267G>C (p.Asp4423His)
c.13129G>C (p.Asp4377His)
c.12976G>C (p.Asp4326His)
Xg.53534032C>TCA413143683HUWE1c.12781G>A (p.Asp4261Asn)
c.12997G>A (p.Asp4333Asn)
c.3464G>A
n.310G>A
c.12970G>A (p.Asp4324Asn)
c.13246G>A (p.Asp4416Asn)
c.13243G>A (p.Asp4415Asn)
c.13201G>A (p.Asp4401Asn)
c.13198G>A (p.Asp4400Asn)
c.13195G>A (p.Asp4399Asn)
c.13147G>A (p.Asp4383Asn)
c.12844G>A (p.Asp4282Asn)
c.13378G>A (p.Asp4460Asn)
c.13375G>A (p.Asp4459Asn)
c.13357G>A (p.Asp4453Asn)
c.13333G>A (p.Asp4445Asn)
c.13330G>A (p.Asp4444Asn)
c.13327G>A (p.Asp4443Asn)
c.13279G>A (p.Asp4427Asn)
c.13267G>A (p.Asp4423Asn)
c.13129G>A (p.Asp4377Asn)
c.12976G>A (p.Asp4326Asn)
Xg.53534033T>ACA516418317HUWE1c.12780A>T (p.Thr4260=)
c.12996A>T (p.Thr4332=)
c.3463A>T
n.309A>T
c.12969A>T (p.Thr4323=)
c.13245A>T (p.Thr4415=)
c.13242A>T (p.Thr4414=)
c.13200A>T (p.Thr4400=)
c.13197A>T (p.Thr4399=)
c.13194A>T (p.Thr4398=)
c.13146A>T (p.Thr4382=)
c.12843A>T (p.Thr4281=)
c.13377A>T (p.Thr4459=)
c.13374A>T (p.Thr4458=)
c.13356A>T (p.Thr4452=)
c.13332A>T (p.Thr4444=)
c.13329A>T (p.Thr4443=)
c.13326A>T (p.Thr4442=)
c.13278A>T (p.Thr4426=)
c.13266A>T (p.Thr4422=)
c.13128A>T (p.Thr4376=)
c.12975A>T (p.Thr4325=)
Xg.53534033T>CCA516418318HUWE1c.12780A>G (p.Thr4260=)
c.12996A>G (p.Thr4332=)
c.3463A>G
n.309A>G
c.12969A>G (p.Thr4323=)
c.13245A>G (p.Thr4415=)
c.13242A>G (p.Thr4414=)
c.13200A>G (p.Thr4400=)
c.13197A>G (p.Thr4399=)
c.13194A>G (p.Thr4398=)
c.13146A>G (p.Thr4382=)
c.12843A>G (p.Thr4281=)
c.13377A>G (p.Thr4459=)
c.13374A>G (p.Thr4458=)
c.13356A>G (p.Thr4452=)
c.13332A>G (p.Thr4444=)
c.13329A>G (p.Thr4443=)
c.13326A>G (p.Thr4442=)
c.13278A>G (p.Thr4426=)
c.13266A>G (p.Thr4422=)
c.13128A>G (p.Thr4376=)
c.12975A>G (p.Thr4325=)
Xg.53534033T>GCA516418319HUWE1c.12780A>C (p.Thr4260=)
c.12996A>C (p.Thr4332=)
c.3463A>C
n.309A>C
c.12969A>C (p.Thr4323=)
c.13245A>C (p.Thr4415=)
c.13242A>C (p.Thr4414=)
c.13200A>C (p.Thr4400=)
c.13197A>C (p.Thr4399=)
c.13194A>C (p.Thr4398=)
c.13146A>C (p.Thr4382=)
c.12843A>C (p.Thr4281=)
c.13377A>C (p.Thr4459=)
c.13374A>C (p.Thr4458=)
c.13356A>C (p.Thr4452=)
c.13332A>C (p.Thr4444=)
c.13329A>C (p.Thr4443=)
c.13326A>C (p.Thr4442=)
c.13278A>C (p.Thr4426=)
c.13266A>C (p.Thr4422=)
c.13128A>C (p.Thr4376=)
c.12975A>C (p.Thr4325=)
 ClinVar dbSNP
Xg.53534033T=CA2429868890HUWE1c.12780A= (p.Thr4260=)
c.12996A= (p.Thr4332=)
c.3463A=
n.309A=
c.12969A= (p.Thr4323=)
c.13245A= (p.Thr4415=)
c.13242A= (p.Thr4414=)
c.13200A= (p.Thr4400=)
c.13197A= (p.Thr4399=)
c.13194A= (p.Thr4398=)
c.13146A= (p.Thr4382=)
c.12843A= (p.Thr4281=)
c.13377A= (p.Thr4459=)
c.13374A= (p.Thr4458=)
c.13356A= (p.Thr4452=)
c.13332A= (p.Thr4444=)
c.13329A= (p.Thr4443=)
c.13326A= (p.Thr4442=)
c.13278A= (p.Thr4426=)
c.13266A= (p.Thr4422=)
c.13128A= (p.Thr4376=)
c.12975A= (p.Thr4325=)
Xg.53534034G>ACA413143685HUWE1c.12779C>T (p.Thr4260Ile)
c.12995C>T (p.Thr4332Ile)
c.3462C>T
n.308C>T
c.12968C>T (p.Thr4323Ile)
c.13244C>T (p.Thr4415Ile)
c.13241C>T (p.Thr4414Ile)
c.13199C>T (p.Thr4400Ile)
c.13196C>T (p.Thr4399Ile)
c.13193C>T (p.Thr4398Ile)
c.13145C>T (p.Thr4382Ile)
c.12842C>T (p.Thr4281Ile)
c.13376C>T (p.Thr4459Ile)
c.13373C>T (p.Thr4458Ile)
c.13355C>T (p.Thr4452Ile)
c.13331C>T (p.Thr4444Ile)
c.13328C>T (p.Thr4443Ile)
c.13325C>T (p.Thr4442Ile)
c.13277C>T (p.Thr4426Ile)
c.13265C>T (p.Thr4422Ile)
c.13127C>T (p.Thr4376Ile)
c.12974C>T (p.Thr4325Ile)
Xg.53534034G>CCA413143686HUWE1c.12779C>G (p.Thr4260Arg)
c.12995C>G (p.Thr4332Arg)
c.3462C>G
n.308C>G
c.12968C>G (p.Thr4323Arg)
c.13244C>G (p.Thr4415Arg)
c.13241C>G (p.Thr4414Arg)
c.13199C>G (p.Thr4400Arg)
c.13196C>G (p.Thr4399Arg)
c.13193C>G (p.Thr4398Arg)
c.13145C>G (p.Thr4382Arg)
c.12842C>G (p.Thr4281Arg)
c.13376C>G (p.Thr4459Arg)
c.13373C>G (p.Thr4458Arg)
c.13355C>G (p.Thr4452Arg)
c.13331C>G (p.Thr4444Arg)
c.13328C>G (p.Thr4443Arg)
c.13325C>G (p.Thr4442Arg)
c.13277C>G (p.Thr4426Arg)
c.13265C>G (p.Thr4422Arg)
c.13127C>G (p.Thr4376Arg)
c.12974C>G (p.Thr4325Arg)
Xg.53534034G>TCA413143688HUWE1c.12779C>A (p.Thr4260Lys)
c.12995C>A (p.Thr4332Lys)
c.3462C>A
n.308C>A
c.12968C>A (p.Thr4323Lys)
c.13244C>A (p.Thr4415Lys)
c.13241C>A (p.Thr4414Lys)
c.13199C>A (p.Thr4400Lys)
c.13196C>A (p.Thr4399Lys)
c.13193C>A (p.Thr4398Lys)
c.13145C>A (p.Thr4382Lys)
c.12842C>A (p.Thr4281Lys)
c.13376C>A (p.Thr4459Lys)
c.13373C>A (p.Thr4458Lys)
c.13355C>A (p.Thr4452Lys)
c.13331C>A (p.Thr4444Lys)
c.13328C>A (p.Thr4443Lys)
c.13325C>A (p.Thr4442Lys)
c.13277C>A (p.Thr4426Lys)
c.13265C>A (p.Thr4422Lys)
c.13127C>A (p.Thr4376Lys)
c.12974C>A (p.Thr4325Lys)
Xg.53534035T>ACA413143692HUWE1c.12778A>T (p.Thr4260Ser)
c.12994A>T (p.Thr4332Ser)
c.3461A>T
n.307A>T
c.12967A>T (p.Thr4323Ser)
c.13243A>T (p.Thr4415Ser)
c.13240A>T (p.Thr4414Ser)
c.13198A>T (p.Thr4400Ser)
c.13195A>T (p.Thr4399Ser)
c.13192A>T (p.Thr4398Ser)
c.13144A>T (p.Thr4382Ser)
c.12841A>T (p.Thr4281Ser)
c.13375A>T (p.Thr4459Ser)
c.13372A>T (p.Thr4458Ser)
c.13354A>T (p.Thr4452Ser)
c.13330A>T (p.Thr4444Ser)
c.13327A>T (p.Thr4443Ser)
c.13324A>T (p.Thr4442Ser)
c.13276A>T (p.Thr4426Ser)
c.13264A>T (p.Thr4422Ser)
c.13126A>T (p.Thr4376Ser)
c.12973A>T (p.Thr4325Ser)
Xg.53534035T>CCA413143693HUWE1c.12778A>G (p.Thr4260Ala)
c.12994A>G (p.Thr4332Ala)
c.3461A>G
n.307A>G
c.12967A>G (p.Thr4323Ala)
c.13243A>G (p.Thr4415Ala)
c.13240A>G (p.Thr4414Ala)
c.13198A>G (p.Thr4400Ala)
c.13195A>G (p.Thr4399Ala)
c.13192A>G (p.Thr4398Ala)
c.13144A>G (p.Thr4382Ala)
c.12841A>G (p.Thr4281Ala)
c.13375A>G (p.Thr4459Ala)
c.13372A>G (p.Thr4458Ala)
c.13354A>G (p.Thr4452Ala)
c.13330A>G (p.Thr4444Ala)
c.13327A>G (p.Thr4443Ala)
c.13324A>G (p.Thr4442Ala)
c.13276A>G (p.Thr4426Ala)
c.13264A>G (p.Thr4422Ala)
c.13126A>G (p.Thr4376Ala)
c.12973A>G (p.Thr4325Ala)
Xg.53534035T>GCA413143694HUWE1c.12778A>C (p.Thr4260Pro)
c.12994A>C (p.Thr4332Pro)
c.3461A>C
n.307A>C
c.12967A>C (p.Thr4323Pro)
c.13243A>C (p.Thr4415Pro)
c.13240A>C (p.Thr4414Pro)
c.13198A>C (p.Thr4400Pro)
c.13195A>C (p.Thr4399Pro)
c.13192A>C (p.Thr4398Pro)
c.13144A>C (p.Thr4382Pro)
c.12841A>C (p.Thr4281Pro)
c.13375A>C (p.Thr4459Pro)
c.13372A>C (p.Thr4458Pro)
c.13354A>C (p.Thr4452Pro)
c.13330A>C (p.Thr4444Pro)
c.13327A>C (p.Thr4443Pro)
c.13324A>C (p.Thr4442Pro)
c.13276A>C (p.Thr4426Pro)
c.13264A>C (p.Thr4422Pro)
c.13126A>C (p.Thr4376Pro)
c.12973A>C (p.Thr4325Pro)
Xg.53534036G>ACA516418344HUWE1c.12777C>T (p.Ser4259=)
c.12993C>T (p.Ser4331=)
c.3460C>T
n.306C>T
c.12966C>T (p.Ser4322=)
c.13242C>T (p.Ser4414=)
c.13239C>T (p.Ser4413=)
c.13197C>T (p.Ser4399=)
c.13194C>T (p.Ser4398=)
c.13191C>T (p.Ser4397=)
c.13143C>T (p.Ser4381=)
c.12840C>T (p.Ser4280=)
c.13374C>T (p.Ser4458=)
c.13371C>T (p.Ser4457=)
c.13353C>T (p.Ser4451=)
c.13329C>T (p.Ser4443=)
c.13326C>T (p.Ser4442=)
c.13323C>T (p.Ser4441=)
c.13275C>T (p.Ser4425=)
c.13263C>T (p.Ser4421=)
c.13125C>T (p.Ser4375=)
c.12972C>T (p.Ser4324=)
 dbSNP
Xg.53534036G>CCA516418345HUWE1c.12777C>G (p.Ser4259=)
c.12993C>G (p.Ser4331=)
c.3460C>G
n.306C>G
c.12966C>G (p.Ser4322=)
c.13242C>G (p.Ser4414=)
c.13239C>G (p.Ser4413=)
c.13197C>G (p.Ser4399=)
c.13194C>G (p.Ser4398=)
c.13191C>G (p.Ser4397=)
c.13143C>G (p.Ser4381=)
c.12840C>G (p.Ser4280=)
c.13374C>G (p.Ser4458=)
c.13371C>G (p.Ser4457=)
c.13353C>G (p.Ser4451=)
c.13329C>G (p.Ser4443=)
c.13326C>G (p.Ser4442=)
c.13323C>G (p.Ser4441=)
c.13275C>G (p.Ser4425=)
c.13263C>G (p.Ser4421=)
c.13125C>G (p.Ser4375=)
c.12972C>G (p.Ser4324=)
Xg.53534036G=CA2429868891HUWE1c.12777C= (p.Ser4259=)
c.12993C= (p.Ser4331=)
c.3460C=
n.306C=
c.12966C= (p.Ser4322=)
c.13242C= (p.Ser4414=)
c.13239C= (p.Ser4413=)
c.13197C= (p.Ser4399=)
c.13194C= (p.Ser4398=)
c.13191C= (p.Ser4397=)
c.13143C= (p.Ser4381=)
c.12840C= (p.Ser4280=)
c.13374C= (p.Ser4458=)
c.13371C= (p.Ser4457=)
c.13353C= (p.Ser4451=)
c.13329C= (p.Ser4443=)
c.13326C= (p.Ser4442=)
c.13323C= (p.Ser4441=)
c.13275C= (p.Ser4425=)
c.13263C= (p.Ser4421=)
c.13125C= (p.Ser4375=)
c.12972C= (p.Ser4324=)
Xg.53534036G>TCA516418343HUWE1c.12777C>A (p.Ser4259=)
c.12993C>A (p.Ser4331=)
c.3460C>A
n.306C>A
c.12966C>A (p.Ser4322=)
c.13242C>A (p.Ser4414=)
c.13239C>A (p.Ser4413=)
c.13197C>A (p.Ser4399=)
c.13194C>A (p.Ser4398=)
c.13191C>A (p.Ser4397=)
c.13143C>A (p.Ser4381=)
c.12840C>A (p.Ser4280=)
c.13374C>A (p.Ser4458=)
c.13371C>A (p.Ser4457=)
c.13353C>A (p.Ser4451=)
c.13329C>A (p.Ser4443=)
c.13326C>A (p.Ser4442=)
c.13323C>A (p.Ser4441=)
c.13275C>A (p.Ser4425=)
c.13263C>A (p.Ser4421=)
c.13125C>A (p.Ser4375=)
c.12972C>A (p.Ser4324=)
Xg.53534037G>ACA413143697HUWE1c.12776C>T (p.Ser4259Phe)
c.12992C>T (p.Ser4331Phe)
c.3459C>T
n.305C>T
c.12965C>T (p.Ser4322Phe)
c.13241C>T (p.Ser4414Phe)
c.13238C>T (p.Ser4413Phe)
c.13196C>T (p.Ser4399Phe)
c.13193C>T (p.Ser4398Phe)
c.13190C>T (p.Ser4397Phe)
c.13142C>T (p.Ser4381Phe)
c.12839C>T (p.Ser4280Phe)
c.13373C>T (p.Ser4458Phe)
c.13370C>T (p.Ser4457Phe)
c.13352C>T (p.Ser4451Phe)
c.13328C>T (p.Ser4443Phe)
c.13325C>T (p.Ser4442Phe)
c.13322C>T (p.Ser4441Phe)
c.13274C>T (p.Ser4425Phe)
c.13262C>T (p.Ser4421Phe)
c.13124C>T (p.Ser4375Phe)
c.12971C>T (p.Ser4324Phe)
 ClinVar dbSNP
Xg.53534037G>CCA413143699HUWE1c.12776C>G (p.Ser4259Cys)
c.12992C>G (p.Ser4331Cys)
c.3459C>G
n.305C>G
c.12965C>G (p.Ser4322Cys)
c.13241C>G (p.Ser4414Cys)
c.13238C>G (p.Ser4413Cys)
c.13196C>G (p.Ser4399Cys)
c.13193C>G (p.Ser4398Cys)
c.13190C>G (p.Ser4397Cys)
c.13142C>G (p.Ser4381Cys)
c.12839C>G (p.Ser4280Cys)
c.13373C>G (p.Ser4458Cys)
c.13370C>G (p.Ser4457Cys)
c.13352C>G (p.Ser4451Cys)
c.13328C>G (p.Ser4443Cys)
c.13325C>G (p.Ser4442Cys)
c.13322C>G (p.Ser4441Cys)
c.13274C>G (p.Ser4425Cys)
c.13262C>G (p.Ser4421Cys)
c.13124C>G (p.Ser4375Cys)
c.12971C>G (p.Ser4324Cys)
Xg.53534037G>TCA413143703HUWE1c.12776C>A (p.Ser4259Tyr)
c.12992C>A (p.Ser4331Tyr)
c.3459C>A
n.305C>A
c.12965C>A (p.Ser4322Tyr)
c.13241C>A (p.Ser4414Tyr)
c.13238C>A (p.Ser4413Tyr)
c.13196C>A (p.Ser4399Tyr)
c.13193C>A (p.Ser4398Tyr)
c.13190C>A (p.Ser4397Tyr)
c.13142C>A (p.Ser4381Tyr)
c.12839C>A (p.Ser4280Tyr)
c.13373C>A (p.Ser4458Tyr)
c.13370C>A (p.Ser4457Tyr)
c.13352C>A (p.Ser4451Tyr)
c.13328C>A (p.Ser4443Tyr)
c.13325C>A (p.Ser4442Tyr)
c.13322C>A (p.Ser4441Tyr)
c.13274C>A (p.Ser4425Tyr)
c.13262C>A (p.Ser4421Tyr)
c.13124C>A (p.Ser4375Tyr)
c.12971C>A (p.Ser4324Tyr)
Xg.53534038A>CCA413143706HUWE1c.12775T>G (p.Ser4259Ala)
c.12991T>G (p.Ser4331Ala)
c.3458T>G
n.304T>G
c.12964T>G (p.Ser4322Ala)
c.13240T>G (p.Ser4414Ala)
c.13237T>G (p.Ser4413Ala)
c.13195T>G (p.Ser4399Ala)
c.13192T>G (p.Ser4398Ala)
c.13189T>G (p.Ser4397Ala)
c.13141T>G (p.Ser4381Ala)
c.12838T>G (p.Ser4280Ala)
c.13372T>G (p.Ser4458Ala)
c.13369T>G (p.Ser4457Ala)
c.13351T>G (p.Ser4451Ala)
c.13327T>G (p.Ser4443Ala)
c.13324T>G (p.Ser4442Ala)
c.13321T>G (p.Ser4441Ala)
c.13273T>G (p.Ser4425Ala)
c.13261T>G (p.Ser4421Ala)
c.13123T>G (p.Ser4375Ala)
c.12970T>G (p.Ser4324Ala)
Xg.53534038A>GCA413143718HUWE1c.12775T>C (p.Ser4259Pro)
c.12991T>C (p.Ser4331Pro)
c.3458T>C
n.304T>C
c.12964T>C (p.Ser4322Pro)
c.13240T>C (p.Ser4414Pro)
c.13237T>C (p.Ser4413Pro)
c.13195T>C (p.Ser4399Pro)
c.13192T>C (p.Ser4398Pro)
c.13189T>C (p.Ser4397Pro)
c.13141T>C (p.Ser4381Pro)
c.12838T>C (p.Ser4280Pro)
c.13372T>C (p.Ser4458Pro)
c.13369T>C (p.Ser4457Pro)
c.13351T>C (p.Ser4451Pro)
c.13327T>C (p.Ser4443Pro)
c.13324T>C (p.Ser4442Pro)
c.13321T>C (p.Ser4441Pro)
c.13273T>C (p.Ser4425Pro)
c.13261T>C (p.Ser4421Pro)
c.13123T>C (p.Ser4375Pro)
c.12970T>C (p.Ser4324Pro)
Xg.53534038A>TCA413143707HUWE1c.12775T>A (p.Ser4259Thr)
c.12991T>A (p.Ser4331Thr)
c.3458T>A
n.304T>A
c.12964T>A (p.Ser4322Thr)
c.13240T>A (p.Ser4414Thr)
c.13237T>A (p.Ser4413Thr)
c.13195T>A (p.Ser4399Thr)
c.13192T>A (p.Ser4398Thr)
c.13189T>A (p.Ser4397Thr)
c.13141T>A (p.Ser4381Thr)
c.12838T>A (p.Ser4280Thr)
c.13372T>A (p.Ser4458Thr)
c.13369T>A (p.Ser4457Thr)
c.13351T>A (p.Ser4451Thr)
c.13327T>A (p.Ser4443Thr)
c.13324T>A (p.Ser4442Thr)
c.13321T>A (p.Ser4441Thr)
c.13273T>A (p.Ser4425Thr)
c.13261T>A (p.Ser4421Thr)
c.13123T>A (p.Ser4375Thr)
c.12970T>A (p.Ser4324Thr)
Xg.53534039C>ACA413143720HUWE1c.12774G>T (p.Arg4258Ser)
c.12990G>T (p.Arg4330Ser)
c.3457G>T
n.303G>T
c.12963G>T (p.Arg4321Ser)
c.13239G>T (p.Arg4413Ser)
c.13236G>T (p.Arg4412Ser)
c.13194G>T (p.Arg4398Ser)
c.13191G>T (p.Arg4397Ser)
c.13188G>T (p.Arg4396Ser)
c.13140G>T (p.Arg4380Ser)
c.12837G>T (p.Arg4279Ser)
c.13371G>T (p.Arg4457Ser)
c.13368G>T (p.Arg4456Ser)
c.13350G>T (p.Arg4450Ser)
c.13326G>T (p.Arg4442Ser)
c.13323G>T (p.Arg4441Ser)
c.13320G>T (p.Arg4440Ser)
c.13272G>T (p.Arg4424Ser)
c.13260G>T (p.Arg4420Ser)
c.13122G>T (p.Arg4374Ser)
c.12969G>T (p.Arg4323Ser)
Xg.53534039C=CA2429868892HUWE1c.12774G= (p.Arg4258=)
c.12990G= (p.Arg4330=)
c.3457G=
n.303G=
c.12963G= (p.Arg4321=)
c.13239G= (p.Arg4413=)
c.13236G= (p.Arg4412=)
c.13194G= (p.Arg4398=)
c.13191G= (p.Arg4397=)
c.13188G= (p.Arg4396=)
c.13140G= (p.Arg4380=)
c.12837G= (p.Arg4279=)
c.13371G= (p.Arg4457=)
c.13368G= (p.Arg4456=)
c.13350G= (p.Arg4450=)
c.13326G= (p.Arg4442=)
c.13323G= (p.Arg4441=)
c.13320G= (p.Arg4440=)
c.13272G= (p.Arg4424=)
c.13260G= (p.Arg4420=)
c.13122G= (p.Arg4374=)
c.12969G= (p.Arg4323=)
Xg.53534039C>GCA16608949HUWE1c.12774G>C (p.Arg4258Ser)
c.12990G>C (p.Arg4330Ser)
c.3457G>C
n.303G>C
c.12963G>C (p.Arg4321Ser)
c.13239G>C (p.Arg4413Ser)
c.13236G>C (p.Arg4412Ser)
c.13194G>C (p.Arg4398Ser)
c.13191G>C (p.Arg4397Ser)
c.13188G>C (p.Arg4396Ser)
c.13140G>C (p.Arg4380Ser)
c.12837G>C (p.Arg4279Ser)
c.13371G>C (p.Arg4457Ser)
c.13368G>C (p.Arg4456Ser)
c.13350G>C (p.Arg4450Ser)
c.13326G>C (p.Arg4442Ser)
c.13323G>C (p.Arg4441Ser)
c.13320G>C (p.Arg4440Ser)
c.13272G>C (p.Arg4424Ser)
c.13260G>C (p.Arg4420Ser)
c.13122G>C (p.Arg4374Ser)
c.12969G>C (p.Arg4323Ser)
 ClinVar dbSNP
Xg.53534039C>TCA516418363HUWE1c.12774G>A (p.Arg4258=)
c.12990G>A (p.Arg4330=)
c.3457G>A
n.303G>A
c.12963G>A (p.Arg4321=)
c.13239G>A (p.Arg4413=)
c.13236G>A (p.Arg4412=)
c.13194G>A (p.Arg4398=)
c.13191G>A (p.Arg4397=)
c.13188G>A (p.Arg4396=)
c.13140G>A (p.Arg4380=)
c.12837G>A (p.Arg4279=)
c.13371G>A (p.Arg4457=)
c.13368G>A (p.Arg4456=)
c.13350G>A (p.Arg4450=)
c.13326G>A (p.Arg4442=)
c.13323G>A (p.Arg4441=)
c.13320G>A (p.Arg4440=)
c.13272G>A (p.Arg4424=)
c.13260G>A (p.Arg4420=)
c.13122G>A (p.Arg4374=)
c.12969G>A (p.Arg4323=)
Xg.53534040C>ACA413143729HUWE1c.12773G>T (p.Arg4258Met)
c.12989G>T (p.Arg4330Met)
c.3456G>T
n.302G>T
c.12962G>T (p.Arg4321Met)
c.13238G>T (p.Arg4413Met)
c.13235G>T (p.Arg4412Met)
c.13193G>T (p.Arg4398Met)
c.13190G>T (p.Arg4397Met)
c.13187G>T (p.Arg4396Met)
c.13139G>T (p.Arg4380Met)
c.12836G>T (p.Arg4279Met)
c.13370G>T (p.Arg4457Met)
c.13367G>T (p.Arg4456Met)
c.13349G>T (p.Arg4450Met)
c.13325G>T (p.Arg4442Met)
c.13322G>T (p.Arg4441Met)
c.13319G>T (p.Arg4440Met)
c.13271G>T (p.Arg4424Met)
c.13259G>T (p.Arg4420Met)
c.13121G>T (p.Arg4374Met)
c.12968G>T (p.Arg4323Met)
Xg.53534040C>GCA413143732HUWE1c.12773G>C (p.Arg4258Thr)
c.12989G>C (p.Arg4330Thr)
c.3456G>C
n.302G>C
c.12962G>C (p.Arg4321Thr)
c.13238G>C (p.Arg4413Thr)
c.13235G>C (p.Arg4412Thr)
c.13193G>C (p.Arg4398Thr)
c.13190G>C (p.Arg4397Thr)
c.13187G>C (p.Arg4396Thr)
c.13139G>C (p.Arg4380Thr)
c.12836G>C (p.Arg4279Thr)
c.13370G>C (p.Arg4457Thr)
c.13367G>C (p.Arg4456Thr)
c.13349G>C (p.Arg4450Thr)
c.13325G>C (p.Arg4442Thr)
c.13322G>C (p.Arg4441Thr)
c.13319G>C (p.Arg4440Thr)
c.13271G>C (p.Arg4424Thr)
c.13259G>C (p.Arg4420Thr)
c.13121G>C (p.Arg4374Thr)
c.12968G>C (p.Arg4323Thr)
Xg.53534040C>TCA413143742HUWE1c.12773G>A (p.Arg4258Lys)
c.12989G>A (p.Arg4330Lys)
c.3456G>A
n.302G>A
c.12962G>A (p.Arg4321Lys)
c.13238G>A (p.Arg4413Lys)
c.13235G>A (p.Arg4412Lys)
c.13193G>A (p.Arg4398Lys)
c.13190G>A (p.Arg4397Lys)
c.13187G>A (p.Arg4396Lys)
c.13139G>A (p.Arg4380Lys)
c.12836G>A (p.Arg4279Lys)
c.13370G>A (p.Arg4457Lys)
c.13367G>A (p.Arg4456Lys)
c.13349G>A (p.Arg4450Lys)
c.13325G>A (p.Arg4442Lys)
c.13322G>A (p.Arg4441Lys)
c.13319G>A (p.Arg4440Lys)
c.13271G>A (p.Arg4424Lys)
c.13259G>A (p.Arg4420Lys)
c.13121G>A (p.Arg4374Lys)
c.12968G>A (p.Arg4323Lys)
Xg.53534041T>ACA413143746HUWE1c.12772A>T (p.Arg4258Trp)
c.12988A>T (p.Arg4330Trp)
c.3455A>T
n.301A>T
c.12961A>T (p.Arg4321Trp)
c.13237A>T (p.Arg4413Trp)
c.13234A>T (p.Arg4412Trp)
c.13192A>T (p.Arg4398Trp)
c.13189A>T (p.Arg4397Trp)
c.13186A>T (p.Arg4396Trp)
c.13138A>T (p.Arg4380Trp)
c.12835A>T (p.Arg4279Trp)
c.13369A>T (p.Arg4457Trp)
c.13366A>T (p.Arg4456Trp)
c.13348A>T (p.Arg4450Trp)
c.13324A>T (p.Arg4442Trp)
c.13321A>T (p.Arg4441Trp)
c.13318A>T (p.Arg4440Trp)
c.13270A>T (p.Arg4424Trp)
c.13258A>T (p.Arg4420Trp)
c.13120A>T (p.Arg4374Trp)
c.12967A>T (p.Arg4323Trp)
Xg.53534041T>CCA413143747HUWE1c.12772A>G (p.Arg4258Gly)
c.12988A>G (p.Arg4330Gly)
c.3455A>G
n.301A>G
c.12961A>G (p.Arg4321Gly)
c.13237A>G (p.Arg4413Gly)
c.13234A>G (p.Arg4412Gly)
c.13192A>G (p.Arg4398Gly)
c.13189A>G (p.Arg4397Gly)
c.13186A>G (p.Arg4396Gly)
c.13138A>G (p.Arg4380Gly)
c.12835A>G (p.Arg4279Gly)
c.13369A>G (p.Arg4457Gly)
c.13366A>G (p.Arg4456Gly)
c.13348A>G (p.Arg4450Gly)
c.13324A>G (p.Arg4442Gly)
c.13321A>G (p.Arg4441Gly)
c.13318A>G (p.Arg4440Gly)
c.13270A>G (p.Arg4424Gly)
c.13258A>G (p.Arg4420Gly)
c.13120A>G (p.Arg4374Gly)
c.12967A>G (p.Arg4323Gly)
Xg.53534041T>GCA516418397HUWE1c.12772A>C (p.Arg4258=)
c.12988A>C (p.Arg4330=)
c.3455A>C
n.301A>C
c.12961A>C (p.Arg4321=)
c.13237A>C (p.Arg4413=)
c.13234A>C (p.Arg4412=)
c.13192A>C (p.Arg4398=)
c.13189A>C (p.Arg4397=)
c.13186A>C (p.Arg4396=)
c.13138A>C (p.Arg4380=)
c.12835A>C (p.Arg4279=)
c.13369A>C (p.Arg4457=)
c.13366A>C (p.Arg4456=)
c.13348A>C (p.Arg4450=)
c.13324A>C (p.Arg4442=)
c.13321A>C (p.Arg4441=)
c.13318A>C (p.Arg4440=)
c.13270A>C (p.Arg4424=)
c.13258A>C (p.Arg4420=)
c.13120A>C (p.Arg4374=)
c.12967A>C (p.Arg4323=)
Xg.53534042G>ACA516418402HUWE1c.12771C>T (p.Asp4257=)
c.12987C>T (p.Asp4329=)
c.3454C>T
n.300C>T
c.12960C>T (p.Asp4320=)
c.13236C>T (p.Asp4412=)
c.13233C>T (p.Asp4411=)
c.13191C>T (p.Asp4397=)
c.13188C>T (p.Asp4396=)
c.13185C>T (p.Asp4395=)
c.13137C>T (p.Asp4379=)
c.12834C>T (p.Asp4278=)
c.13368C>T (p.Asp4456=)
c.13365C>T (p.Asp4455=)
c.13347C>T (p.Asp4449=)
c.13323C>T (p.Asp4441=)
c.13320C>T (p.Asp4440=)
c.13317C>T (p.Asp4439=)
c.13269C>T (p.Asp4423=)
c.13257C>T (p.Asp4419=)
c.13119C>T (p.Asp4373=)
c.12966C>T (p.Asp4322=)
 COSMIC COSMIC
Xg.53534042G>CCA10421109HUWE1c.12771C>G (p.Asp4257Glu)
c.12987C>G (p.Asp4329Glu)
c.3454C>G
n.300C>G
c.12960C>G (p.Asp4320Glu)
c.13236C>G (p.Asp4412Glu)
c.13233C>G (p.Asp4411Glu)
c.13191C>G (p.Asp4397Glu)
c.13188C>G (p.Asp4396Glu)
c.13185C>G (p.Asp4395Glu)
c.13137C>G (p.Asp4379Glu)
c.12834C>G (p.Asp4278Glu)
c.13368C>G (p.Asp4456Glu)
c.13365C>G (p.Asp4455Glu)
c.13347C>G (p.Asp4449Glu)
c.13323C>G (p.Asp4441Glu)
c.13320C>G (p.Asp4440Glu)
c.13317C>G (p.Asp4439Glu)
c.13269C>G (p.Asp4423Glu)
c.13257C>G (p.Asp4419Glu)
c.13119C>G (p.Asp4373Glu)
c.12966C>G (p.Asp4322Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53534042G=CA2429868893HUWE1c.12771C= (p.Asp4257=)
c.12987C= (p.Asp4329=)
c.3454C=
n.300C=
c.12960C= (p.Asp4320=)
c.13236C= (p.Asp4412=)
c.13233C= (p.Asp4411=)
c.13191C= (p.Asp4397=)
c.13188C= (p.Asp4396=)
c.13185C= (p.Asp4395=)
c.13137C= (p.Asp4379=)
c.12834C= (p.Asp4278=)
c.13368C= (p.Asp4456=)
c.13365C= (p.Asp4455=)
c.13347C= (p.Asp4449=)
c.13323C= (p.Asp4441=)
c.13320C= (p.Asp4440=)
c.13317C= (p.Asp4439=)
c.13269C= (p.Asp4423=)
c.13257C= (p.Asp4419=)
c.13119C= (p.Asp4373=)
c.12966C= (p.Asp4322=)
Xg.53534042G>TCA413143749HUWE1c.12771C>A (p.Asp4257Glu)
c.12987C>A (p.Asp4329Glu)
c.3454C>A
n.300C>A
c.12960C>A (p.Asp4320Glu)
c.13236C>A (p.Asp4412Glu)
c.13233C>A (p.Asp4411Glu)
c.13191C>A (p.Asp4397Glu)
c.13188C>A (p.Asp4396Glu)
c.13185C>A (p.Asp4395Glu)
c.13137C>A (p.Asp4379Glu)
c.12834C>A (p.Asp4278Glu)
c.13368C>A (p.Asp4456Glu)
c.13365C>A (p.Asp4455Glu)
c.13347C>A (p.Asp4449Glu)
c.13323C>A (p.Asp4441Glu)
c.13320C>A (p.Asp4440Glu)
c.13317C>A (p.Asp4439Glu)
c.13269C>A (p.Asp4423Glu)
c.13257C>A (p.Asp4419Glu)
c.13119C>A (p.Asp4373Glu)
c.12966C>A (p.Asp4322Glu)
Xg.53534043T>ACA413143752HUWE1c.12770A>T (p.Asp4257Val)
c.12986A>T (p.Asp4329Val)
c.3453A>T
n.299A>T
c.12959A>T (p.Asp4320Val)
c.13235A>T (p.Asp4412Val)
c.13232A>T (p.Asp4411Val)
c.13190A>T (p.Asp4397Val)
c.13187A>T (p.Asp4396Val)
c.13184A>T (p.Asp4395Val)
c.13136A>T (p.Asp4379Val)
c.12833A>T (p.Asp4278Val)
c.13367A>T (p.Asp4456Val)
c.13364A>T (p.Asp4455Val)
c.13346A>T (p.Asp4449Val)
c.13322A>T (p.Asp4441Val)
c.13319A>T (p.Asp4440Val)
c.13316A>T (p.Asp4439Val)
c.13268A>T (p.Asp4423Val)
c.13256A>T (p.Asp4419Val)
c.13118A>T (p.Asp4373Val)
c.12965A>T (p.Asp4322Val)
Xg.53534043T>CCA413143756HUWE1c.12770A>G (p.Asp4257Gly)
c.12986A>G (p.Asp4329Gly)
c.3453A>G
n.299A>G
c.12959A>G (p.Asp4320Gly)
c.13235A>G (p.Asp4412Gly)
c.13232A>G (p.Asp4411Gly)
c.13190A>G (p.Asp4397Gly)
c.13187A>G (p.Asp4396Gly)
c.13184A>G (p.Asp4395Gly)
c.13136A>G (p.Asp4379Gly)
c.12833A>G (p.Asp4278Gly)
c.13367A>G (p.Asp4456Gly)
c.13364A>G (p.Asp4455Gly)
c.13346A>G (p.Asp4449Gly)
c.13322A>G (p.Asp4441Gly)
c.13319A>G (p.Asp4440Gly)
c.13316A>G (p.Asp4439Gly)
c.13268A>G (p.Asp4423Gly)
c.13256A>G (p.Asp4419Gly)
c.13118A>G (p.Asp4373Gly)
c.12965A>G (p.Asp4322Gly)
Xg.53534043T>GCA413143765HUWE1c.12770A>C (p.Asp4257Ala)
c.12986A>C (p.Asp4329Ala)
c.3453A>C
n.299A>C
c.12959A>C (p.Asp4320Ala)
c.13235A>C (p.Asp4412Ala)
c.13232A>C (p.Asp4411Ala)
c.13190A>C (p.Asp4397Ala)
c.13187A>C (p.Asp4396Ala)
c.13184A>C (p.Asp4395Ala)
c.13136A>C (p.Asp4379Ala)
c.12833A>C (p.Asp4278Ala)
c.13367A>C (p.Asp4456Ala)
c.13364A>C (p.Asp4455Ala)
c.13346A>C (p.Asp4449Ala)
c.13322A>C (p.Asp4441Ala)
c.13319A>C (p.Asp4440Ala)
c.13316A>C (p.Asp4439Ala)
c.13268A>C (p.Asp4423Ala)
c.13256A>C (p.Asp4419Ala)
c.13118A>C (p.Asp4373Ala)
c.12965A>C (p.Asp4322Ala)
Xg.53534044C>ACA413143775HUWE1c.12769G>T (p.Asp4257Tyr)
c.12985G>T (p.Asp4329Tyr)
c.3452G>T
n.298G>T
c.12958G>T (p.Asp4320Tyr)
c.13234G>T (p.Asp4412Tyr)
c.13231G>T (p.Asp4411Tyr)
c.13189G>T (p.Asp4397Tyr)
c.13186G>T (p.Asp4396Tyr)
c.13183G>T (p.Asp4395Tyr)
c.13135G>T (p.Asp4379Tyr)
c.12832G>T (p.Asp4278Tyr)
c.13366G>T (p.Asp4456Tyr)
c.13363G>T (p.Asp4455Tyr)
c.13345G>T (p.Asp4449Tyr)
c.13321G>T (p.Asp4441Tyr)
c.13318G>T (p.Asp4440Tyr)
c.13315G>T (p.Asp4439Tyr)
c.13267G>T (p.Asp4423Tyr)
c.13255G>T (p.Asp4419Tyr)
c.13117G>T (p.Asp4373Tyr)
c.12964G>T (p.Asp4322Tyr)
Xg.53534044C>GCA413143769HUWE1c.12769G>C (p.Asp4257His)
c.12985G>C (p.Asp4329His)
c.3452G>C
n.298G>C
c.12958G>C (p.Asp4320His)
c.13234G>C (p.Asp4412His)
c.13231G>C (p.Asp4411His)
c.13189G>C (p.Asp4397His)
c.13186G>C (p.Asp4396His)
c.13183G>C (p.Asp4395His)
c.13135G>C (p.Asp4379His)
c.12832G>C (p.Asp4278His)
c.13366G>C (p.Asp4456His)
c.13363G>C (p.Asp4455His)
c.13345G>C (p.Asp4449His)
c.13321G>C (p.Asp4441His)
c.13318G>C (p.Asp4440His)
c.13315G>C (p.Asp4439His)
c.13267G>C (p.Asp4423His)
c.13255G>C (p.Asp4419His)
c.13117G>C (p.Asp4373His)
c.12964G>C (p.Asp4322His)
Xg.53534044C>TCA413143771HUWE1c.12769G>A (p.Asp4257Asn)
c.12985G>A (p.Asp4329Asn)
c.3452G>A
n.298G>A
c.12958G>A (p.Asp4320Asn)
c.13234G>A (p.Asp4412Asn)
c.13231G>A (p.Asp4411Asn)
c.13189G>A (p.Asp4397Asn)
c.13186G>A (p.Asp4396Asn)
c.13183G>A (p.Asp4395Asn)
c.13135G>A (p.Asp4379Asn)
c.12832G>A (p.Asp4278Asn)
c.13366G>A (p.Asp4456Asn)
c.13363G>A (p.Asp4455Asn)
c.13345G>A (p.Asp4449Asn)
c.13321G>A (p.Asp4441Asn)
c.13318G>A (p.Asp4440Asn)
c.13315G>A (p.Asp4439Asn)
c.13267G>A (p.Asp4423Asn)
c.13255G>A (p.Asp4419Asn)
c.13117G>A (p.Asp4373Asn)
c.12964G>A (p.Asp4322Asn)
Xg.53534045A=CA2429868894HUWE1c.12768T= (p.Asp4256=)
c.12984T= (p.Asp4328=)
c.3451T=
n.297T=
c.12957T= (p.Asp4319=)
c.13233T= (p.Asp4411=)
c.13230T= (p.Asp4410=)
c.13188T= (p.Asp4396=)
c.13185T= (p.Asp4395=)
c.13182T= (p.Asp4394=)
c.13134T= (p.Asp4378=)
c.12831T= (p.Asp4277=)
c.13365T= (p.Asp4455=)
c.13362T= (p.Asp4454=)
c.13344T= (p.Asp4448=)
c.13320T= (p.Asp4440=)
c.13317T= (p.Asp4439=)
c.13314T= (p.Asp4438=)
c.13266T= (p.Asp4422=)
c.13254T= (p.Asp4418=)
c.13116T= (p.Asp4372=)
c.12963T= (p.Asp4321=)
Xg.53534045A>CCA413143776HUWE1c.12768T>G (p.Asp4256Glu)
c.12984T>G (p.Asp4328Glu)
c.3451T>G
n.297T>G
c.12957T>G (p.Asp4319Glu)
c.13233T>G (p.Asp4411Glu)
c.13230T>G (p.Asp4410Glu)
c.13188T>G (p.Asp4396Glu)
c.13185T>G (p.Asp4395Glu)
c.13182T>G (p.Asp4394Glu)
c.13134T>G (p.Asp4378Glu)
c.12831T>G (p.Asp4277Glu)
c.13365T>G (p.Asp4455Glu)
c.13362T>G (p.Asp4454Glu)
c.13344T>G (p.Asp4448Glu)
c.13320T>G (p.Asp4440Glu)
c.13317T>G (p.Asp4439Glu)
c.13314T>G (p.Asp4438Glu)
c.13266T>G (p.Asp4422Glu)
c.13254T>G (p.Asp4418Glu)
c.13116T>G (p.Asp4372Glu)
c.12963T>G (p.Asp4321Glu)
Xg.53534045A>GCA10421110HUWE1c.12768T>C (p.Asp4256=)
c.12984T>C (p.Asp4328=)
c.3451T>C
n.297T>C
c.12957T>C (p.Asp4319=)
c.13233T>C (p.Asp4411=)
c.13230T>C (p.Asp4410=)
c.13188T>C (p.Asp4396=)
c.13185T>C (p.Asp4395=)
c.13182T>C (p.Asp4394=)
c.13134T>C (p.Asp4378=)
c.12831T>C (p.Asp4277=)
c.13365T>C (p.Asp4455=)
c.13362T>C (p.Asp4454=)
c.13344T>C (p.Asp4448=)
c.13320T>C (p.Asp4440=)
c.13317T>C (p.Asp4439=)
c.13314T>C (p.Asp4438=)
c.13266T>C (p.Asp4422=)
c.13254T>C (p.Asp4418=)
c.13116T>C (p.Asp4372=)
c.12963T>C (p.Asp4321=)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.53534045A>TCA413143778HUWE1c.12768T>A (p.Asp4256Glu)
c.12984T>A (p.Asp4328Glu)
c.3451T>A
n.297T>A
c.12957T>A (p.Asp4319Glu)
c.13233T>A (p.Asp4411Glu)
c.13230T>A (p.Asp4410Glu)
c.13188T>A (p.Asp4396Glu)
c.13185T>A (p.Asp4395Glu)
c.13182T>A (p.Asp4394Glu)
c.13134T>A (p.Asp4378Glu)
c.12831T>A (p.Asp4277Glu)
c.13365T>A (p.Asp4455Glu)
c.13362T>A (p.Asp4454Glu)
c.13344T>A (p.Asp4448Glu)
c.13320T>A (p.Asp4440Glu)
c.13317T>A (p.Asp4439Glu)
c.13314T>A (p.Asp4438Glu)
c.13266T>A (p.Asp4422Glu)
c.13254T>A (p.Asp4418Glu)
c.13116T>A (p.Asp4372Glu)
c.12963T>A (p.Asp4321Glu)
Xg.53534046T>ACA413143781HUWE1c.12767A>T (p.Asp4256Val)
c.12983A>T (p.Asp4328Val)
c.3450A>T
n.296A>T
c.12956A>T (p.Asp4319Val)
c.13232A>T (p.Asp4411Val)
c.13229A>T (p.Asp4410Val)
c.13187A>T (p.Asp4396Val)
c.13184A>T (p.Asp4395Val)
c.13181A>T (p.Asp4394Val)
c.13133A>T (p.Asp4378Val)
c.12830A>T (p.Asp4277Val)
c.13364A>T (p.Asp4455Val)
c.13361A>T (p.Asp4454Val)
c.13343A>T (p.Asp4448Val)
c.13319A>T (p.Asp4440Val)
c.13316A>T (p.Asp4439Val)
c.13313A>T (p.Asp4438Val)
c.13265A>T (p.Asp4422Val)
c.13253A>T (p.Asp4418Val)
c.13115A>T (p.Asp4372Val)
c.12962A>T (p.Asp4321Val)
Xg.53534046T>CCA413143784HUWE1c.12767A>G (p.Asp4256Gly)
c.12983A>G (p.Asp4328Gly)
c.3450A>G
n.296A>G
c.12956A>G (p.Asp4319Gly)
c.13232A>G (p.Asp4411Gly)
c.13229A>G (p.Asp4410Gly)
c.13187A>G (p.Asp4396Gly)
c.13184A>G (p.Asp4395Gly)
c.13181A>G (p.Asp4394Gly)
c.13133A>G (p.Asp4378Gly)
c.12830A>G (p.Asp4277Gly)
c.13364A>G (p.Asp4455Gly)
c.13361A>G (p.Asp4454Gly)
c.13343A>G (p.Asp4448Gly)
c.13319A>G (p.Asp4440Gly)
c.13316A>G (p.Asp4439Gly)
c.13313A>G (p.Asp4438Gly)
c.13265A>G (p.Asp4422Gly)
c.13253A>G (p.Asp4418Gly)
c.13115A>G (p.Asp4372Gly)
c.12962A>G (p.Asp4321Gly)
Xg.53534046T>GCA413143787HUWE1c.12767A>C (p.Asp4256Ala)
c.12983A>C (p.Asp4328Ala)
c.3450A>C
n.296A>C
c.12956A>C (p.Asp4319Ala)
c.13232A>C (p.Asp4411Ala)
c.13229A>C (p.Asp4410Ala)
c.13187A>C (p.Asp4396Ala)
c.13184A>C (p.Asp4395Ala)
c.13181A>C (p.Asp4394Ala)
c.13133A>C (p.Asp4378Ala)
c.12830A>C (p.Asp4277Ala)
c.13364A>C (p.Asp4455Ala)
c.13361A>C (p.Asp4454Ala)
c.13343A>C (p.Asp4448Ala)
c.13319A>C (p.Asp4440Ala)
c.13316A>C (p.Asp4439Ala)
c.13313A>C (p.Asp4438Ala)
c.13265A>C (p.Asp4422Ala)
c.13253A>C (p.Asp4418Ala)
c.13115A>C (p.Asp4372Ala)
c.12962A>C (p.Asp4321Ala)
Xg.53534047C>ACA413143795HUWE1c.12766G>T (p.Asp4256Tyr)
c.12982G>T (p.Asp4328Tyr)
c.3449G>T
n.295G>T
c.12955G>T (p.Asp4319Tyr)
c.13231G>T (p.Asp4411Tyr)
c.13228G>T (p.Asp4410Tyr)
c.13186G>T (p.Asp4396Tyr)
c.13183G>T (p.Asp4395Tyr)
c.13180G>T (p.Asp4394Tyr)
c.13132G>T (p.Asp4378Tyr)
c.12829G>T (p.Asp4277Tyr)
c.13363G>T (p.Asp4455Tyr)
c.13360G>T (p.Asp4454Tyr)
c.13342G>T (p.Asp4448Tyr)
c.13318G>T (p.Asp4440Tyr)
c.13315G>T (p.Asp4439Tyr)
c.13312G>T (p.Asp4438Tyr)
c.13264G>T (p.Asp4422Tyr)
c.13252G>T (p.Asp4418Tyr)
c.13114G>T (p.Asp4372Tyr)
c.12961G>T (p.Asp4321Tyr)
Xg.53534047C>GCA413143799HUWE1c.12766G>C (p.Asp4256His)
c.12982G>C (p.Asp4328His)
c.3449G>C
n.295G>C
c.12955G>C (p.Asp4319His)
c.13231G>C (p.Asp4411His)
c.13228G>C (p.Asp4410His)
c.13186G>C (p.Asp4396His)
c.13183G>C (p.Asp4395His)
c.13180G>C (p.Asp4394His)
c.13132G>C (p.Asp4378His)
c.12829G>C (p.Asp4277His)
c.13363G>C (p.Asp4455His)
c.13360G>C (p.Asp4454His)
c.13342G>C (p.Asp4448His)
c.13318G>C (p.Asp4440His)
c.13315G>C (p.Asp4439His)
c.13312G>C (p.Asp4438His)
c.13264G>C (p.Asp4422His)
c.13252G>C (p.Asp4418His)
c.13114G>C (p.Asp4372His)
c.12961G>C (p.Asp4321His)
 COSMIC
Xg.53534047C>TCA413143801HUWE1c.12766G>A (p.Asp4256Asn)
c.12982G>A (p.Asp4328Asn)
c.3449G>A
n.295G>A
c.12955G>A (p.Asp4319Asn)
c.13231G>A (p.Asp4411Asn)
c.13228G>A (p.Asp4410Asn)
c.13186G>A (p.Asp4396Asn)
c.13183G>A (p.Asp4395Asn)
c.13180G>A (p.Asp4394Asn)
c.13132G>A (p.Asp4378Asn)
c.12829G>A (p.Asp4277Asn)
c.13363G>A (p.Asp4455Asn)
c.13360G>A (p.Asp4454Asn)
c.13342G>A (p.Asp4448Asn)
c.13318G>A (p.Asp4440Asn)
c.13315G>A (p.Asp4439Asn)
c.13312G>A (p.Asp4438Asn)
c.13264G>A (p.Asp4422Asn)
c.13252G>A (p.Asp4418Asn)
c.13114G>A (p.Asp4372Asn)
c.12961G>A (p.Asp4321Asn)
Xg.53534048T>ACA516418466HUWE1c.12765A>T (p.Arg4255=)
c.12981A>T (p.Arg4327=)
c.3448A>T
n.294A>T
c.12954A>T (p.Arg4318=)
c.13230A>T (p.Arg4410=)
c.13227A>T (p.Arg4409=)
c.13185A>T (p.Arg4395=)
c.13182A>T (p.Arg4394=)
c.13179A>T (p.Arg4393=)
c.13131A>T (p.Arg4377=)
c.12828A>T (p.Arg4276=)
c.13362A>T (p.Arg4454=)
c.13359A>T (p.Arg4453=)
c.13341A>T (p.Arg4447=)
c.13317A>T (p.Arg4439=)
c.13314A>T (p.Arg4438=)
c.13311A>T (p.Arg4437=)
c.13263A>T (p.Arg4421=)
c.13251A>T (p.Arg4417=)
c.13113A>T (p.Arg4371=)
c.12960A>T (p.Arg4320=)
Xg.53534048T>CCA516418468HUWE1c.12765A>G (p.Arg4255=)
c.12981A>G (p.Arg4327=)
c.3448A>G
n.294A>G
c.12954A>G (p.Arg4318=)
c.13230A>G (p.Arg4410=)
c.13227A>G (p.Arg4409=)
c.13185A>G (p.Arg4395=)
c.13182A>G (p.Arg4394=)
c.13179A>G (p.Arg4393=)
c.13131A>G (p.Arg4377=)
c.12828A>G (p.Arg4276=)
c.13362A>G (p.Arg4454=)
c.13359A>G (p.Arg4453=)
c.13341A>G (p.Arg4447=)
c.13317A>G (p.Arg4439=)
c.13314A>G (p.Arg4438=)
c.13311A>G (p.Arg4437=)
c.13263A>G (p.Arg4421=)
c.13251A>G (p.Arg4417=)
c.13113A>G (p.Arg4371=)
c.12960A>G (p.Arg4320=)
Xg.53534048T>GCA516418470HUWE1c.12765A>C (p.Arg4255=)
c.12981A>C (p.Arg4327=)
c.3448A>C
n.294A>C
c.12954A>C (p.Arg4318=)
c.13230A>C (p.Arg4410=)
c.13227A>C (p.Arg4409=)
c.13185A>C (p.Arg4395=)
c.13182A>C (p.Arg4394=)
c.13179A>C (p.Arg4393=)
c.13131A>C (p.Arg4377=)
c.12828A>C (p.Arg4276=)
c.13362A>C (p.Arg4454=)
c.13359A>C (p.Arg4453=)
c.13341A>C (p.Arg4447=)
c.13317A>C (p.Arg4439=)
c.13314A>C (p.Arg4438=)
c.13311A>C (p.Arg4437=)
c.13263A>C (p.Arg4421=)
c.13251A>C (p.Arg4417=)
c.13113A>C (p.Arg4371=)
c.12960A>C (p.Arg4320=)
Xg.53534049C>ACA413143802HUWE1c.12764G>T (p.Arg4255Leu)
c.12980G>T (p.Arg4327Leu)
c.3447G>T
n.293G>T
c.12953G>T (p.Arg4318Leu)
c.13229G>T (p.Arg4410Leu)
c.13226G>T (p.Arg4409Leu)
c.13184G>T (p.Arg4395Leu)
c.13181G>T (p.Arg4394Leu)
c.13178G>T (p.Arg4393Leu)
c.13130G>T (p.Arg4377Leu)
c.12827G>T (p.Arg4276Leu)
c.13361G>T (p.Arg4454Leu)
c.13358G>T (p.Arg4453Leu)
c.13340G>T (p.Arg4447Leu)
c.13316G>T (p.Arg4439Leu)
c.13313G>T (p.Arg4438Leu)
c.13310G>T (p.Arg4437Leu)
c.13262G>T (p.Arg4421Leu)
c.13250G>T (p.Arg4417Leu)
c.13112G>T (p.Arg4371Leu)
c.12959G>T (p.Arg4320Leu)
Xg.53534049C=CA2429868895HUWE1c.12764G= (p.Arg4255=)
c.12980G= (p.Arg4327=)
c.3447G=
n.293G=
c.12953G= (p.Arg4318=)
c.13229G= (p.Arg4410=)
c.13226G= (p.Arg4409=)
c.13184G= (p.Arg4395=)
c.13181G= (p.Arg4394=)
c.13178G= (p.Arg4393=)
c.13130G= (p.Arg4377=)
c.12827G= (p.Arg4276=)
c.13361G= (p.Arg4454=)
c.13358G= (p.Arg4453=)
c.13340G= (p.Arg4447=)
c.13316G= (p.Arg4439=)
c.13313G= (p.Arg4438=)
c.13310G= (p.Arg4437=)
c.13262G= (p.Arg4421=)
c.13250G= (p.Arg4417=)
c.13112G= (p.Arg4371=)
c.12959G= (p.Arg4320=)
Xg.53534049C>GCA413143803HUWE1c.12764G>C (p.Arg4255Pro)
c.12980G>C (p.Arg4327Pro)
c.3447G>C
n.293G>C
c.12953G>C (p.Arg4318Pro)
c.13229G>C (p.Arg4410Pro)
c.13226G>C (p.Arg4409Pro)
c.13184G>C (p.Arg4395Pro)
c.13181G>C (p.Arg4394Pro)
c.13178G>C (p.Arg4393Pro)
c.13130G>C (p.Arg4377Pro)
c.12827G>C (p.Arg4276Pro)
c.13361G>C (p.Arg4454Pro)
c.13358G>C (p.Arg4453Pro)
c.13340G>C (p.Arg4447Pro)
c.13316G>C (p.Arg4439Pro)
c.13313G>C (p.Arg4438Pro)
c.13310G>C (p.Arg4437Pro)
c.13262G>C (p.Arg4421Pro)
c.13250G>C (p.Arg4417Pro)
c.13112G>C (p.Arg4371Pro)
c.12959G>C (p.Arg4320Pro)
Xg.53534049C>TCA413143805HUWE1c.12764G>A (p.Arg4255Gln)
c.12980G>A (p.Arg4327Gln)
c.3447G>A
n.293G>A
c.12953G>A (p.Arg4318Gln)
c.13229G>A (p.Arg4410Gln)
c.13226G>A (p.Arg4409Gln)
c.13184G>A (p.Arg4395Gln)
c.13181G>A (p.Arg4394Gln)
c.13178G>A (p.Arg4393Gln)
c.13130G>A (p.Arg4377Gln)
c.12827G>A (p.Arg4276Gln)
c.13361G>A (p.Arg4454Gln)
c.13358G>A (p.Arg4453Gln)
c.13340G>A (p.Arg4447Gln)
c.13316G>A (p.Arg4439Gln)
c.13313G>A (p.Arg4438Gln)
c.13310G>A (p.Arg4437Gln)
c.13262G>A (p.Arg4421Gln)
c.13250G>A (p.Arg4417Gln)
c.13112G>A (p.Arg4371Gln)
c.12959G>A (p.Arg4320Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53534050G>ACA413143808HUWE1c.12763C>T (p.Arg4255Ter)
c.12979C>T (p.Arg4327Ter)
c.3446C>T
n.292C>T
c.12952C>T (p.Arg4318Ter)
c.13228C>T (p.Arg4410Ter)
c.13225C>T (p.Arg4409Ter)
c.13183C>T (p.Arg4395Ter)
c.13180C>T (p.Arg4394Ter)
c.13177C>T (p.Arg4393Ter)
c.13129C>T (p.Arg4377Ter)
c.12826C>T (p.Arg4276Ter)
c.13360C>T (p.Arg4454Ter)
c.13357C>T (p.Arg4453Ter)
c.13339C>T (p.Arg4447Ter)
c.13315C>T (p.Arg4439Ter)
c.13312C>T (p.Arg4438Ter)
c.13309C>T (p.Arg4437Ter)
c.13261C>T (p.Arg4421Ter)
c.13249C>T (p.Arg4417Ter)
c.13111C>T (p.Arg4371Ter)
c.12958C>T (p.Arg4320Ter)
Xg.53534050G>CCA413143815HUWE1c.12763C>G (p.Arg4255Gly)
c.12979C>G (p.Arg4327Gly)
c.3446C>G
n.292C>G
c.12952C>G (p.Arg4318Gly)
c.13228C>G (p.Arg4410Gly)
c.13225C>G (p.Arg4409Gly)
c.13183C>G (p.Arg4395Gly)
c.13180C>G (p.Arg4394Gly)
c.13177C>G (p.Arg4393Gly)
c.13129C>G (p.Arg4377Gly)
c.12826C>G (p.Arg4276Gly)
c.13360C>G (p.Arg4454Gly)
c.13357C>G (p.Arg4453Gly)
c.13339C>G (p.Arg4447Gly)
c.13315C>G (p.Arg4439Gly)
c.13312C>G (p.Arg4438Gly)
c.13309C>G (p.Arg4437Gly)
c.13261C>G (p.Arg4421Gly)
c.13249C>G (p.Arg4417Gly)
c.13111C>G (p.Arg4371Gly)
c.12958C>G (p.Arg4320Gly)
Xg.53534050G>TCA516418485HUWE1c.12763C>A (p.Arg4255=)
c.12979C>A (p.Arg4327=)
c.3446C>A
n.292C>A
c.12952C>A (p.Arg4318=)
c.13228C>A (p.Arg4410=)
c.13225C>A (p.Arg4409=)
c.13183C>A (p.Arg4395=)
c.13180C>A (p.Arg4394=)
c.13177C>A (p.Arg4393=)
c.13129C>A (p.Arg4377=)
c.12826C>A (p.Arg4276=)
c.13360C>A (p.Arg4454=)
c.13357C>A (p.Arg4453=)
c.13339C>A (p.Arg4447=)
c.13315C>A (p.Arg4439=)
c.13312C>A (p.Arg4438=)
c.13309C>A (p.Arg4437=)
c.13261C>A (p.Arg4421=)
c.13249C>A (p.Arg4417=)
c.13111C>A (p.Arg4371=)
c.12958C>A (p.Arg4320=)
Xg.53534051A=CA2429868896HUWE1c.12762T= (p.His4254=)
c.12978T= (p.His4326=)
c.3445T=
n.291T=
c.12951T= (p.His4317=)
c.13227T= (p.His4409=)
c.13224T= (p.His4408=)
c.13182T= (p.His4394=)
c.13179T= (p.His4393=)
c.13176T= (p.His4392=)
c.13128T= (p.His4376=)
c.12825T= (p.His4275=)
c.13359T= (p.His4453=)
c.13356T= (p.His4452=)
c.13338T= (p.His4446=)
c.13314T= (p.His4438=)
c.13311T= (p.His4437=)
c.13308T= (p.His4436=)
c.13260T= (p.His4420=)
c.13248T= (p.His4416=)
c.13110T= (p.His4370=)
c.12957T= (p.His4319=)
Xg.53534051A>CCA413143821HUWE1c.12762T>G (p.His4254Gln)
c.12978T>G (p.His4326Gln)
c.3445T>G
n.291T>G
c.12951T>G (p.His4317Gln)
c.13227T>G (p.His4409Gln)
c.13224T>G (p.His4408Gln)
c.13182T>G (p.His4394Gln)
c.13179T>G (p.His4393Gln)
c.13176T>G (p.His4392Gln)
c.13128T>G (p.His4376Gln)
c.12825T>G (p.His4275Gln)
c.13359T>G (p.His4453Gln)
c.13356T>G (p.His4452Gln)
c.13338T>G (p.His4446Gln)
c.13314T>G (p.His4438Gln)
c.13311T>G (p.His4437Gln)
c.13308T>G (p.His4436Gln)
c.13260T>G (p.His4420Gln)
c.13248T>G (p.His4416Gln)
c.13110T>G (p.His4370Gln)
c.12957T>G (p.His4319Gln)
Xg.53534051A>GCA10421111HUWE1c.12762T>C (p.His4254=)
c.12978T>C (p.His4326=)
c.3445T>C
n.291T>C
c.12951T>C (p.His4317=)
c.13227T>C (p.His4409=)
c.13224T>C (p.His4408=)
c.13182T>C (p.His4394=)
c.13179T>C (p.His4393=)
c.13176T>C (p.His4392=)
c.13128T>C (p.His4376=)
c.12825T>C (p.His4275=)
c.13359T>C (p.His4453=)
c.13356T>C (p.His4452=)
c.13338T>C (p.His4446=)
c.13314T>C (p.His4438=)
c.13311T>C (p.His4437=)
c.13308T>C (p.His4436=)
c.13260T>C (p.His4420=)
c.13248T>C (p.His4416=)
c.13110T>C (p.His4370=)
c.12957T>C (p.His4319=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53534051A>TCA413143827HUWE1c.12762T>A (p.His4254Gln)
c.12978T>A (p.His4326Gln)
c.3445T>A
n.291T>A
c.12951T>A (p.His4317Gln)
c.13227T>A (p.His4409Gln)
c.13224T>A (p.His4408Gln)
c.13182T>A (p.His4394Gln)
c.13179T>A (p.His4393Gln)
c.13176T>A (p.His4392Gln)
c.13128T>A (p.His4376Gln)
c.12825T>A (p.His4275Gln)
c.13359T>A (p.His4453Gln)
c.13356T>A (p.His4452Gln)
c.13338T>A (p.His4446Gln)
c.13314T>A (p.His4438Gln)
c.13311T>A (p.His4437Gln)
c.13308T>A (p.His4436Gln)
c.13260T>A (p.His4420Gln)
c.13248T>A (p.His4416Gln)
c.13110T>A (p.His4370Gln)
c.12957T>A (p.His4319Gln)
Xg.53534052T>ACA413143841HUWE1c.12761A>T (p.His4254Leu)
c.12977A>T (p.His4326Leu)
c.3444A>T
n.290A>T
c.12950A>T (p.His4317Leu)
c.13226A>T (p.His4409Leu)
c.13223A>T (p.His4408Leu)
c.13181A>T (p.His4394Leu)
c.13178A>T (p.His4393Leu)
c.13175A>T (p.His4392Leu)
c.13127A>T (p.His4376Leu)
c.12824A>T (p.His4275Leu)
c.13358A>T (p.His4453Leu)
c.13355A>T (p.His4452Leu)
c.13337A>T (p.His4446Leu)
c.13313A>T (p.His4438Leu)
c.13310A>T (p.His4437Leu)
c.13307A>T (p.His4436Leu)
c.13259A>T (p.His4420Leu)
c.13247A>T (p.His4416Leu)
c.13109A>T (p.His4370Leu)
c.12956A>T (p.His4319Leu)
Xg.53534052T>CCA413143848HUWE1c.12761A>G (p.His4254Arg)
c.12977A>G (p.His4326Arg)
c.3444A>G
n.290A>G
c.12950A>G (p.His4317Arg)
c.13226A>G (p.His4409Arg)
c.13223A>G (p.His4408Arg)
c.13181A>G (p.His4394Arg)
c.13178A>G (p.His4393Arg)
c.13175A>G (p.His4392Arg)
c.13127A>G (p.His4376Arg)
c.12824A>G (p.His4275Arg)
c.13358A>G (p.His4453Arg)
c.13355A>G (p.His4452Arg)
c.13337A>G (p.His4446Arg)
c.13313A>G (p.His4438Arg)
c.13310A>G (p.His4437Arg)
c.13307A>G (p.His4436Arg)
c.13259A>G (p.His4420Arg)
c.13247A>G (p.His4416Arg)
c.13109A>G (p.His4370Arg)
c.12956A>G (p.His4319Arg)
Xg.53534052T>GCA413143851HUWE1c.12761A>C (p.His4254Pro)
c.12977A>C (p.His4326Pro)
c.3444A>C
n.290A>C
c.12950A>C (p.His4317Pro)
c.13226A>C (p.His4409Pro)
c.13223A>C (p.His4408Pro)
c.13181A>C (p.His4394Pro)
c.13178A>C (p.His4393Pro)
c.13175A>C (p.His4392Pro)
c.13127A>C (p.His4376Pro)
c.12824A>C (p.His4275Pro)
c.13358A>C (p.His4453Pro)
c.13355A>C (p.His4452Pro)
c.13337A>C (p.His4446Pro)
c.13313A>C (p.His4438Pro)
c.13310A>C (p.His4437Pro)
c.13307A>C (p.His4436Pro)
c.13259A>C (p.His4420Pro)
c.13247A>C (p.His4416Pro)
c.13109A>C (p.His4370Pro)
c.12956A>C (p.His4319Pro)
Xg.53534053G>ACA413143852HUWE1c.12760C>T (p.His4254Tyr)
c.12976C>T (p.His4326Tyr)
c.3443C>T
n.289C>T
c.12949C>T (p.His4317Tyr)
c.13225C>T (p.His4409Tyr)
c.13222C>T (p.His4408Tyr)
c.13180C>T (p.His4394Tyr)
c.13177C>T (p.His4393Tyr)
c.13174C>T (p.His4392Tyr)
c.13126C>T (p.His4376Tyr)
c.12823C>T (p.His4275Tyr)
c.13357C>T (p.His4453Tyr)
c.13354C>T (p.His4452Tyr)
c.13336C>T (p.His4446Tyr)
c.13312C>T (p.His4438Tyr)
c.13309C>T (p.His4437Tyr)
c.13306C>T (p.His4436Tyr)
c.13258C>T (p.His4420Tyr)
c.13246C>T (p.His4416Tyr)
c.13108C>T (p.His4370Tyr)
c.12955C>T (p.His4319Tyr)
 dbSNP
Xg.53534053G>CCA413143853HUWE1c.12760C>G (p.His4254Asp)
c.12976C>G (p.His4326Asp)
c.3443C>G
n.289C>G
c.12949C>G (p.His4317Asp)
c.13225C>G (p.His4409Asp)
c.13222C>G (p.His4408Asp)
c.13180C>G (p.His4394Asp)
c.13177C>G (p.His4393Asp)
c.13174C>G (p.His4392Asp)
c.13126C>G (p.His4376Asp)
c.12823C>G (p.His4275Asp)
c.13357C>G (p.His4453Asp)
c.13354C>G (p.His4452Asp)
c.13336C>G (p.His4446Asp)
c.13312C>G (p.His4438Asp)
c.13309C>G (p.His4437Asp)
c.13306C>G (p.His4436Asp)
c.13258C>G (p.His4420Asp)
c.13246C>G (p.His4416Asp)
c.13108C>G (p.His4370Asp)
c.12955C>G (p.His4319Asp)
Xg.53534053G=CA2429868897HUWE1c.12760C= (p.His4254=)
c.12976C= (p.His4326=)
c.3443C=
n.289C=
c.12949C= (p.His4317=)
c.13225C= (p.His4409=)
c.13222C= (p.His4408=)
c.13180C= (p.His4394=)
c.13177C= (p.His4393=)
c.13174C= (p.His4392=)
c.13126C= (p.His4376=)
c.12823C= (p.His4275=)
c.13357C= (p.His4453=)
c.13354C= (p.His4452=)
c.13336C= (p.His4446=)
c.13312C= (p.His4438=)
c.13309C= (p.His4437=)
c.13306C= (p.His4436=)
c.13258C= (p.His4420=)
c.13246C= (p.His4416=)
c.13108C= (p.His4370=)
c.12955C= (p.His4319=)
Xg.53534053G>TCA413143854HUWE1c.12760C>A (p.His4254Asn)
c.12976C>A (p.His4326Asn)
c.3443C>A
n.289C>A
c.12949C>A (p.His4317Asn)
c.13225C>A (p.His4409Asn)
c.13222C>A (p.His4408Asn)
c.13180C>A (p.His4394Asn)
c.13177C>A (p.His4393Asn)
c.13174C>A (p.His4392Asn)
c.13126C>A (p.His4376Asn)
c.12823C>A (p.His4275Asn)
c.13357C>A (p.His4453Asn)
c.13354C>A (p.His4452Asn)
c.13336C>A (p.His4446Asn)
c.13312C>A (p.His4438Asn)
c.13309C>A (p.His4437Asn)
c.13306C>A (p.His4436Asn)
c.13258C>A (p.His4420Asn)
c.13246C>A (p.His4416Asn)
c.13108C>A (p.His4370Asn)
c.12955C>A (p.His4319Asn)
Xg.53534054G>ACA516418499HUWE1c.12759C>T (p.Ile4253=)
c.12975C>T (p.Ile4325=)
c.3442C>T
n.288C>T
c.12948C>T (p.Ile4316=)
c.13224C>T (p.Ile4408=)
c.13221C>T (p.Ile4407=)
c.13179C>T (p.Ile4393=)
c.13176C>T (p.Ile4392=)
c.13173C>T (p.Ile4391=)
c.13125C>T (p.Ile4375=)
c.12822C>T (p.Ile4274=)
c.13356C>T (p.Ile4452=)
c.13353C>T (p.Ile4451=)
c.13335C>T (p.Ile4445=)
c.13311C>T (p.Ile4437=)
c.13308C>T (p.Ile4436=)
c.13305C>T (p.Ile4435=)
c.13257C>T (p.Ile4419=)
c.13245C>T (p.Ile4415=)
c.13107C>T (p.Ile4369=)
c.12954C>T (p.Ile4318=)
 COSMIC COSMIC
Xg.53534054G>CCA413143855HUWE1c.12759C>G (p.Ile4253Met)
c.12975C>G (p.Ile4325Met)
c.3442C>G
n.288C>G
c.12948C>G (p.Ile4316Met)
c.13224C>G (p.Ile4408Met)
c.13221C>G (p.Ile4407Met)
c.13179C>G (p.Ile4393Met)
c.13176C>G (p.Ile4392Met)
c.13173C>G (p.Ile4391Met)
c.13125C>G (p.Ile4375Met)
c.12822C>G (p.Ile4274Met)
c.13356C>G (p.Ile4452Met)
c.13353C>G (p.Ile4451Met)
c.13335C>G (p.Ile4445Met)
c.13311C>G (p.Ile4437Met)
c.13308C>G (p.Ile4436Met)
c.13305C>G (p.Ile4435Met)
c.13257C>G (p.Ile4419Met)
c.13245C>G (p.Ile4415Met)
c.13107C>G (p.Ile4369Met)
c.12954C>G (p.Ile4318Met)
Xg.53534054G>TCA516418504HUWE1c.12759C>A (p.Ile4253=)
c.12975C>A (p.Ile4325=)
c.3442C>A
n.288C>A
c.12948C>A (p.Ile4316=)
c.13224C>A (p.Ile4408=)
c.13221C>A (p.Ile4407=)
c.13179C>A (p.Ile4393=)
c.13176C>A (p.Ile4392=)
c.13173C>A (p.Ile4391=)
c.13125C>A (p.Ile4375=)
c.12822C>A (p.Ile4274=)
c.13356C>A (p.Ile4452=)
c.13353C>A (p.Ile4451=)
c.13335C>A (p.Ile4445=)
c.13311C>A (p.Ile4437=)
c.13308C>A (p.Ile4436=)
c.13305C>A (p.Ile4435=)
c.13257C>A (p.Ile4419=)
c.13245C>A (p.Ile4415=)
c.13107C>A (p.Ile4369=)
c.12954C>A (p.Ile4318=)
Xg.53534055A>CCA413143862HUWE1c.12758T>G (p.Ile4253Ser)
c.12974T>G (p.Ile4325Ser)
c.3441T>G
n.287T>G
c.12947T>G (p.Ile4316Ser)
c.13223T>G (p.Ile4408Ser)
c.13220T>G (p.Ile4407Ser)
c.13178T>G (p.Ile4393Ser)
c.13175T>G (p.Ile4392Ser)
c.13172T>G (p.Ile4391Ser)
c.13124T>G (p.Ile4375Ser)
c.12821T>G (p.Ile4274Ser)
c.13355T>G (p.Ile4452Ser)
c.13352T>G (p.Ile4451Ser)
c.13334T>G (p.Ile4445Ser)
c.13310T>G (p.Ile4437Ser)
c.13307T>G (p.Ile4436Ser)
c.13304T>G (p.Ile4435Ser)
c.13256T>G (p.Ile4419Ser)
c.13244T>G (p.Ile4415Ser)
c.13106T>G (p.Ile4369Ser)
c.12953T>G (p.Ile4318Ser)
Xg.53534055A>GCA413143864HUWE1c.12758T>C (p.Ile4253Thr)
c.12974T>C (p.Ile4325Thr)
c.3441T>C
n.287T>C
c.12947T>C (p.Ile4316Thr)
c.13223T>C (p.Ile4408Thr)
c.13220T>C (p.Ile4407Thr)
c.13178T>C (p.Ile4393Thr)
c.13175T>C (p.Ile4392Thr)
c.13172T>C (p.Ile4391Thr)
c.13124T>C (p.Ile4375Thr)
c.12821T>C (p.Ile4274Thr)
c.13355T>C (p.Ile4452Thr)
c.13352T>C (p.Ile4451Thr)
c.13334T>C (p.Ile4445Thr)
c.13310T>C (p.Ile4437Thr)
c.13307T>C (p.Ile4436Thr)
c.13304T>C (p.Ile4435Thr)
c.13256T>C (p.Ile4419Thr)
c.13244T>C (p.Ile4415Thr)
c.13106T>C (p.Ile4369Thr)
c.12953T>C (p.Ile4318Thr)
Xg.53534055A>TCA413143871HUWE1c.12758T>A (p.Ile4253Asn)
c.12974T>A (p.Ile4325Asn)
c.3441T>A
n.287T>A
c.12947T>A (p.Ile4316Asn)
c.13223T>A (p.Ile4408Asn)
c.13220T>A (p.Ile4407Asn)
c.13178T>A (p.Ile4393Asn)
c.13175T>A (p.Ile4392Asn)
c.13172T>A (p.Ile4391Asn)
c.13124T>A (p.Ile4375Asn)
c.12821T>A (p.Ile4274Asn)
c.13355T>A (p.Ile4452Asn)
c.13352T>A (p.Ile4451Asn)
c.13334T>A (p.Ile4445Asn)
c.13310T>A (p.Ile4437Asn)
c.13307T>A (p.Ile4436Asn)
c.13304T>A (p.Ile4435Asn)
c.13256T>A (p.Ile4419Asn)
c.13244T>A (p.Ile4415Asn)
c.13106T>A (p.Ile4369Asn)
c.12953T>A (p.Ile4318Asn)
Xg.53534056T>ACA413143876HUWE1c.12757A>T (p.Ile4253Phe)
c.12973A>T (p.Ile4325Phe)
c.3440A>T
n.286A>T
c.12946A>T (p.Ile4316Phe)
c.13222A>T (p.Ile4408Phe)
c.13219A>T (p.Ile4407Phe)
c.13177A>T (p.Ile4393Phe)
c.13174A>T (p.Ile4392Phe)
c.13171A>T (p.Ile4391Phe)
c.13123A>T (p.Ile4375Phe)
c.12820A>T (p.Ile4274Phe)
c.13354A>T (p.Ile4452Phe)
c.13351A>T (p.Ile4451Phe)
c.13333A>T (p.Ile4445Phe)
c.13309A>T (p.Ile4437Phe)
c.13306A>T (p.Ile4436Phe)
c.13303A>T (p.Ile4435Phe)
c.13255A>T (p.Ile4419Phe)
c.13243A>T (p.Ile4415Phe)
c.13105A>T (p.Ile4369Phe)
c.12952A>T (p.Ile4318Phe)
Xg.53534056T>CCA413143879HUWE1c.12757A>G (p.Ile4253Val)
c.12973A>G (p.Ile4325Val)
c.3440A>G
n.286A>G
c.12946A>G (p.Ile4316Val)
c.13222A>G (p.Ile4408Val)
c.13219A>G (p.Ile4407Val)
c.13177A>G (p.Ile4393Val)
c.13174A>G (p.Ile4392Val)
c.13171A>G (p.Ile4391Val)
c.13123A>G (p.Ile4375Val)
c.12820A>G (p.Ile4274Val)
c.13354A>G (p.Ile4452Val)
c.13351A>G (p.Ile4451Val)
c.13333A>G (p.Ile4445Val)
c.13309A>G (p.Ile4437Val)
c.13306A>G (p.Ile4436Val)
c.13303A>G (p.Ile4435Val)
c.13255A>G (p.Ile4419Val)
c.13243A>G (p.Ile4415Val)
c.13105A>G (p.Ile4369Val)
c.12952A>G (p.Ile4318Val)
Xg.53534056T>GCA413143883HUWE1c.12757A>C (p.Ile4253Leu)
c.12973A>C (p.Ile4325Leu)
c.3440A>C
n.286A>C
c.12946A>C (p.Ile4316Leu)
c.13222A>C (p.Ile4408Leu)
c.13219A>C (p.Ile4407Leu)
c.13177A>C (p.Ile4393Leu)
c.13174A>C (p.Ile4392Leu)
c.13171A>C (p.Ile4391Leu)
c.13123A>C (p.Ile4375Leu)
c.12820A>C (p.Ile4274Leu)
c.13354A>C (p.Ile4452Leu)
c.13351A>C (p.Ile4451Leu)
c.13333A>C (p.Ile4445Leu)
c.13309A>C (p.Ile4437Leu)
c.13306A>C (p.Ile4436Leu)
c.13303A>C (p.Ile4435Leu)
c.13255A>C (p.Ile4419Leu)
c.13243A>C (p.Ile4415Leu)
c.13105A>C (p.Ile4369Leu)
c.12952A>C (p.Ile4318Leu)
Xg.53534057C>ACA413143884HUWE1c.12756G>T (p.Gln4252His)
c.12972G>T (p.Gln4324His)
c.3439G>T
n.285G>T
c.12945G>T (p.Gln4315His)
c.13221G>T (p.Gln4407His)
c.13218G>T (p.Gln4406His)
c.13176G>T (p.Gln4392His)
c.13173G>T (p.Gln4391His)
c.13170G>T (p.Gln4390His)
c.13122G>T (p.Gln4374His)
c.12819G>T (p.Gln4273His)
c.13353G>T (p.Gln4451His)
c.13350G>T (p.Gln4450His)
c.13332G>T (p.Gln4444His)
c.13308G>T (p.Gln4436His)
c.13305G>T (p.Gln4435His)
c.13302G>T (p.Gln4434His)
c.13254G>T (p.Gln4418His)
c.13242G>T (p.Gln4414His)
c.13104G>T (p.Gln4368His)
c.12951G>T (p.Gln4317His)
Xg.53534057C>GCA413143885HUWE1c.12756G>C (p.Gln4252His)
c.12972G>C (p.Gln4324His)
c.3439G>C
n.285G>C
c.12945G>C (p.Gln4315His)
c.13221G>C (p.Gln4407His)
c.13218G>C (p.Gln4406His)
c.13176G>C (p.Gln4392His)
c.13173G>C (p.Gln4391His)
c.13170G>C (p.Gln4390His)
c.13122G>C (p.Gln4374His)
c.12819G>C (p.Gln4273His)
c.13353G>C (p.Gln4451His)
c.13350G>C (p.Gln4450His)
c.13332G>C (p.Gln4444His)
c.13308G>C (p.Gln4436His)
c.13305G>C (p.Gln4435His)
c.13302G>C (p.Gln4434His)
c.13254G>C (p.Gln4418His)
c.13242G>C (p.Gln4414His)
c.13104G>C (p.Gln4368His)
c.12951G>C (p.Gln4317His)
Xg.53534057C>TCA516418536HUWE1c.12756G>A (p.Gln4252=)
c.12972G>A (p.Gln4324=)
c.3439G>A
n.285G>A
c.12945G>A (p.Gln4315=)
c.13221G>A (p.Gln4407=)
c.13218G>A (p.Gln4406=)
c.13176G>A (p.Gln4392=)
c.13173G>A (p.Gln4391=)
c.13170G>A (p.Gln4390=)
c.13122G>A (p.Gln4374=)
c.12819G>A (p.Gln4273=)
c.13353G>A (p.Gln4451=)
c.13350G>A (p.Gln4450=)
c.13332G>A (p.Gln4444=)
c.13308G>A (p.Gln4436=)
c.13305G>A (p.Gln4435=)
c.13302G>A (p.Gln4434=)
c.13254G>A (p.Gln4418=)
c.13242G>A (p.Gln4414=)
c.13104G>A (p.Gln4368=)
c.12951G>A (p.Gln4317=)
Xg.53534058T>ACA413143889HUWE1c.12755A>T (p.Gln4252Leu)
c.12971A>T (p.Gln4324Leu)
c.3438A>T
n.284A>T
c.12944A>T (p.Gln4315Leu)
c.13220A>T (p.Gln4407Leu)
c.13217A>T (p.Gln4406Leu)
c.13175A>T (p.Gln4392Leu)
c.13172A>T (p.Gln4391Leu)
c.13169A>T (p.Gln4390Leu)
c.13121A>T (p.Gln4374Leu)
c.12818A>T (p.Gln4273Leu)
c.13352A>T (p.Gln4451Leu)
c.13349A>T (p.Gln4450Leu)
c.13331A>T (p.Gln4444Leu)
c.13307A>T (p.Gln4436Leu)
c.13304A>T (p.Gln4435Leu)
c.13301A>T (p.Gln4434Leu)
c.13253A>T (p.Gln4418Leu)
c.13241A>T (p.Gln4414Leu)
c.13103A>T (p.Gln4368Leu)
c.12950A>T (p.Gln4317Leu)
Xg.53534058T>CCA413143892HUWE1c.12755A>G (p.Gln4252Arg)
c.12971A>G (p.Gln4324Arg)
c.3438A>G
n.284A>G
c.12944A>G (p.Gln4315Arg)
c.13220A>G (p.Gln4407Arg)
c.13217A>G (p.Gln4406Arg)
c.13175A>G (p.Gln4392Arg)
c.13172A>G (p.Gln4391Arg)
c.13169A>G (p.Gln4390Arg)
c.13121A>G (p.Gln4374Arg)
c.12818A>G (p.Gln4273Arg)
c.13352A>G (p.Gln4451Arg)
c.13349A>G (p.Gln4450Arg)
c.13331A>G (p.Gln4444Arg)
c.13307A>G (p.Gln4436Arg)
c.13304A>G (p.Gln4435Arg)
c.13301A>G (p.Gln4434Arg)
c.13253A>G (p.Gln4418Arg)
c.13241A>G (p.Gln4414Arg)
c.13103A>G (p.Gln4368Arg)
c.12950A>G (p.Gln4317Arg)
Xg.53534058T>GCA413143895HUWE1c.12755A>C (p.Gln4252Pro)
c.12971A>C (p.Gln4324Pro)
c.3438A>C
n.284A>C
c.12944A>C (p.Gln4315Pro)
c.13220A>C (p.Gln4407Pro)
c.13217A>C (p.Gln4406Pro)
c.13175A>C (p.Gln4392Pro)
c.13172A>C (p.Gln4391Pro)
c.13169A>C (p.Gln4390Pro)
c.13121A>C (p.Gln4374Pro)
c.12818A>C (p.Gln4273Pro)
c.13352A>C (p.Gln4451Pro)
c.13349A>C (p.Gln4450Pro)
c.13331A>C (p.Gln4444Pro)
c.13307A>C (p.Gln4436Pro)
c.13304A>C (p.Gln4435Pro)
c.13301A>C (p.Gln4434Pro)
c.13253A>C (p.Gln4418Pro)
c.13241A>C (p.Gln4414Pro)
c.13103A>C (p.Gln4368Pro)
c.12950A>C (p.Gln4317Pro)
Xg.53534059G>ACA413143900HUWE1c.12754C>T (p.Gln4252Ter)
c.12970C>T (p.Gln4324Ter)
c.3437C>T
n.283C>T
c.12943C>T (p.Gln4315Ter)
c.13219C>T (p.Gln4407Ter)
c.13216C>T (p.Gln4406Ter)
c.13174C>T (p.Gln4392Ter)
c.13171C>T (p.Gln4391Ter)
c.13168C>T (p.Gln4390Ter)
c.13120C>T (p.Gln4374Ter)
c.12817C>T (p.Gln4273Ter)
c.13351C>T (p.Gln4451Ter)
c.13348C>T (p.Gln4450Ter)
c.13330C>T (p.Gln4444Ter)
c.13306C>T (p.Gln4436Ter)
c.13303C>T (p.Gln4435Ter)
c.13300C>T (p.Gln4434Ter)
c.13252C>T (p.Gln4418Ter)
c.13240C>T (p.Gln4414Ter)
c.13102C>T (p.Gln4368Ter)
c.12949C>T (p.Gln4317Ter)
Xg.53534059G>CCA413143904HUWE1c.12754C>G (p.Gln4252Glu)
c.12970C>G (p.Gln4324Glu)
c.3437C>G
n.283C>G
c.12943C>G (p.Gln4315Glu)
c.13219C>G (p.Gln4407Glu)
c.13216C>G (p.Gln4406Glu)
c.13174C>G (p.Gln4392Glu)
c.13171C>G (p.Gln4391Glu)
c.13168C>G (p.Gln4390Glu)
c.13120C>G (p.Gln4374Glu)
c.12817C>G (p.Gln4273Glu)
c.13351C>G (p.Gln4451Glu)
c.13348C>G (p.Gln4450Glu)
c.13330C>G (p.Gln4444Glu)
c.13306C>G (p.Gln4436Glu)
c.13303C>G (p.Gln4435Glu)
c.13300C>G (p.Gln4434Glu)
c.13252C>G (p.Gln4418Glu)
c.13240C>G (p.Gln4414Glu)
c.13102C>G (p.Gln4368Glu)
c.12949C>G (p.Gln4317Glu)
Xg.53534059G>TCA413143911HUWE1c.12754C>A (p.Gln4252Lys)
c.12970C>A (p.Gln4324Lys)
c.3437C>A
n.283C>A
c.12943C>A (p.Gln4315Lys)
c.13219C>A (p.Gln4407Lys)
c.13216C>A (p.Gln4406Lys)
c.13174C>A (p.Gln4392Lys)
c.13171C>A (p.Gln4391Lys)
c.13168C>A (p.Gln4390Lys)
c.13120C>A (p.Gln4374Lys)
c.12817C>A (p.Gln4273Lys)
c.13351C>A (p.Gln4451Lys)
c.13348C>A (p.Gln4450Lys)
c.13330C>A (p.Gln4444Lys)
c.13306C>A (p.Gln4436Lys)
c.13303C>A (p.Gln4435Lys)
c.13300C>A (p.Gln4434Lys)
c.13252C>A (p.Gln4418Lys)
c.13240C>A (p.Gln4414Lys)
c.13102C>A (p.Gln4368Lys)
c.12949C>A (p.Gln4317Lys)
Xg.53534060A>CCA413143916HUWE1c.12753T>G (p.Phe4251Leu)
c.12969T>G (p.Phe4323Leu)
c.3436T>G
n.282T>G
c.12942T>G (p.Phe4314Leu)
c.13218T>G (p.Phe4406Leu)
c.13215T>G (p.Phe4405Leu)
c.13173T>G (p.Phe4391Leu)
c.13170T>G (p.Phe4390Leu)
c.13167T>G (p.Phe4389Leu)
c.13119T>G (p.Phe4373Leu)
c.12816T>G (p.Phe4272Leu)
c.13350T>G (p.Phe4450Leu)
c.13347T>G (p.Phe4449Leu)
c.13329T>G (p.Phe4443Leu)
c.13305T>G (p.Phe4435Leu)
c.13302T>G (p.Phe4434Leu)
c.13299T>G (p.Phe4433Leu)
c.13251T>G (p.Phe4417Leu)
c.13239T>G (p.Phe4413Leu)
c.13101T>G (p.Phe4367Leu)
c.12948T>G (p.Phe4316Leu)
Xg.53534060A>GCA516418575HUWE1c.12753T>C (p.Phe4251=)
c.12969T>C (p.Phe4323=)
c.3436T>C
n.282T>C
c.12942T>C (p.Phe4314=)
c.13218T>C (p.Phe4406=)
c.13215T>C (p.Phe4405=)
c.13173T>C (p.Phe4391=)
c.13170T>C (p.Phe4390=)
c.13167T>C (p.Phe4389=)
c.13119T>C (p.Phe4373=)
c.12816T>C (p.Phe4272=)
c.13350T>C (p.Phe4450=)
c.13347T>C (p.Phe4449=)
c.13329T>C (p.Phe4443=)
c.13305T>C (p.Phe4435=)
c.13302T>C (p.Phe4434=)
c.13299T>C (p.Phe4433=)
c.13251T>C (p.Phe4417=)
c.13239T>C (p.Phe4413=)
c.13101T>C (p.Phe4367=)
c.12948T>C (p.Phe4316=)
Xg.53534060A>TCA413143917HUWE1c.12753T>A (p.Phe4251Leu)
c.12969T>A (p.Phe4323Leu)
c.3436T>A
n.282T>A
c.12942T>A (p.Phe4314Leu)
c.13218T>A (p.Phe4406Leu)
c.13215T>A (p.Phe4405Leu)
c.13173T>A (p.Phe4391Leu)
c.13170T>A (p.Phe4390Leu)
c.13167T>A (p.Phe4389Leu)
c.13119T>A (p.Phe4373Leu)
c.12816T>A (p.Phe4272Leu)
c.13350T>A (p.Phe4450Leu)
c.13347T>A (p.Phe4449Leu)
c.13329T>A (p.Phe4443Leu)
c.13305T>A (p.Phe4435Leu)
c.13302T>A (p.Phe4434Leu)
c.13299T>A (p.Phe4433Leu)
c.13251T>A (p.Phe4417Leu)
c.13239T>A (p.Phe4413Leu)
c.13101T>A (p.Phe4367Leu)
c.12948T>A (p.Phe4316Leu)
Xg.53534061A>CCA413143918HUWE1c.12752T>G (p.Phe4251Cys)
c.12968T>G (p.Phe4323Cys)
c.3435T>G
n.281T>G
c.12941T>G (p.Phe4314Cys)
c.13217T>G (p.Phe4406Cys)
c.13214T>G (p.Phe4405Cys)
c.13172T>G (p.Phe4391Cys)
c.13169T>G (p.Phe4390Cys)
c.13166T>G (p.Phe4389Cys)
c.13118T>G (p.Phe4373Cys)
c.12815T>G (p.Phe4272Cys)
c.13349T>G (p.Phe4450Cys)
c.13346T>G (p.Phe4449Cys)
c.13328T>G (p.Phe4443Cys)
c.13304T>G (p.Phe4435Cys)
c.13301T>G (p.Phe4434Cys)
c.13298T>G (p.Phe4433Cys)
c.13250T>G (p.Phe4417Cys)
c.13238T>G (p.Phe4413Cys)
c.13100T>G (p.Phe4367Cys)
c.12947T>G (p.Phe4316Cys)
Xg.53534061A>GCA413143920HUWE1c.12752T>C (p.Phe4251Ser)
c.12968T>C (p.Phe4323Ser)
c.3435T>C
n.281T>C
c.12941T>C (p.Phe4314Ser)
c.13217T>C (p.Phe4406Ser)
c.13214T>C (p.Phe4405Ser)
c.13172T>C (p.Phe4391Ser)
c.13169T>C (p.Phe4390Ser)
c.13166T>C (p.Phe4389Ser)
c.13118T>C (p.Phe4373Ser)
c.12815T>C (p.Phe4272Ser)
c.13349T>C (p.Phe4450Ser)
c.13346T>C (p.Phe4449Ser)
c.13328T>C (p.Phe4443Ser)
c.13304T>C (p.Phe4435Ser)
c.13301T>C (p.Phe4434Ser)
c.13298T>C (p.Phe4433Ser)
c.13250T>C (p.Phe4417Ser)
c.13238T>C (p.Phe4413Ser)
c.13100T>C (p.Phe4367Ser)
c.12947T>C (p.Phe4316Ser)
Xg.53534061A>TCA413143924HUWE1c.12752T>A (p.Phe4251Tyr)
c.12968T>A (p.Phe4323Tyr)
c.3435T>A
n.281T>A
c.12941T>A (p.Phe4314Tyr)
c.13217T>A (p.Phe4406Tyr)
c.13214T>A (p.Phe4405Tyr)
c.13172T>A (p.Phe4391Tyr)
c.13169T>A (p.Phe4390Tyr)
c.13166T>A (p.Phe4389Tyr)
c.13118T>A (p.Phe4373Tyr)
c.12815T>A (p.Phe4272Tyr)
c.13349T>A (p.Phe4450Tyr)
c.13346T>A (p.Phe4449Tyr)
c.13328T>A (p.Phe4443Tyr)
c.13304T>A (p.Phe4435Tyr)
c.13301T>A (p.Phe4434Tyr)
c.13298T>A (p.Phe4433Tyr)
c.13250T>A (p.Phe4417Tyr)
c.13238T>A (p.Phe4413Tyr)
c.13100T>A (p.Phe4367Tyr)
c.12947T>A (p.Phe4316Tyr)
Xg.53534062A>CCA413143936HUWE1c.12751T>G (p.Phe4251Val)
c.12967T>G (p.Phe4323Val)
c.3434T>G
n.280T>G
c.12940T>G (p.Phe4314Val)
c.13216T>G (p.Phe4406Val)
c.13213T>G (p.Phe4405Val)
c.13171T>G (p.Phe4391Val)
c.13168T>G (p.Phe4390Val)
c.13165T>G (p.Phe4389Val)
c.13117T>G (p.Phe4373Val)
c.12814T>G (p.Phe4272Val)
c.13348T>G (p.Phe4450Val)
c.13345T>G (p.Phe4449Val)
c.13327T>G (p.Phe4443Val)
c.13303T>G (p.Phe4435Val)
c.13300T>G (p.Phe4434Val)
c.13297T>G (p.Phe4433Val)
c.13249T>G (p.Phe4417Val)
c.13237T>G (p.Phe4413Val)
c.13099T>G (p.Phe4367Val)
c.12946T>G (p.Phe4316Val)
Xg.53534062A>GCA413143932HUWE1c.12751T>C (p.Phe4251Leu)
c.12967T>C (p.Phe4323Leu)
c.3434T>C
n.280T>C
c.12940T>C (p.Phe4314Leu)
c.13216T>C (p.Phe4406Leu)
c.13213T>C (p.Phe4405Leu)
c.13171T>C (p.Phe4391Leu)
c.13168T>C (p.Phe4390Leu)
c.13165T>C (p.Phe4389Leu)
c.13117T>C (p.Phe4373Leu)
c.12814T>C (p.Phe4272Leu)
c.13348T>C (p.Phe4450Leu)
c.13345T>C (p.Phe4449Leu)
c.13327T>C (p.Phe4443Leu)
c.13303T>C (p.Phe4435Leu)
c.13300T>C (p.Phe4434Leu)
c.13297T>C (p.Phe4433Leu)
c.13249T>C (p.Phe4417Leu)
c.13237T>C (p.Phe4413Leu)
c.13099T>C (p.Phe4367Leu)
c.12946T>C (p.Phe4316Leu)
Xg.53534062A>TCA413143928HUWE1c.12751T>A (p.Phe4251Ile)
c.12967T>A (p.Phe4323Ile)
c.3434T>A
n.280T>A
c.12940T>A (p.Phe4314Ile)
c.13216T>A (p.Phe4406Ile)
c.13213T>A (p.Phe4405Ile)
c.13171T>A (p.Phe4391Ile)
c.13168T>A (p.Phe4390Ile)
c.13165T>A (p.Phe4389Ile)
c.13117T>A (p.Phe4373Ile)
c.12814T>A (p.Phe4272Ile)
c.13348T>A (p.Phe4450Ile)
c.13345T>A (p.Phe4449Ile)
c.13327T>A (p.Phe4443Ile)
c.13303T>A (p.Phe4435Ile)
c.13300T>A (p.Phe4434Ile)
c.13297T>A (p.Phe4433Ile)
c.13249T>A (p.Phe4417Ile)
c.13237T>A (p.Phe4413Ile)
c.13099T>A (p.Phe4367Ile)
c.12946T>A (p.Phe4316Ile)
Xg.53534063C>ACA413143943HUWE1c.12750G>T (p.Lys4250Asn)
c.12966G>T (p.Lys4322Asn)
c.3433G>T
n.279G>T
c.12939G>T (p.Lys4313Asn)
c.13215G>T (p.Lys4405Asn)
c.13212G>T (p.Lys4404Asn)
c.13170G>T (p.Lys4390Asn)
c.13167G>T (p.Lys4389Asn)
c.13164G>T (p.Lys4388Asn)
c.13116G>T (p.Lys4372Asn)
c.12813G>T (p.Lys4271Asn)
c.13347G>T (p.Lys4449Asn)
c.13344G>T (p.Lys4448Asn)
c.13326G>T (p.Lys4442Asn)
c.13302G>T (p.Lys4434Asn)
c.13299G>T (p.Lys4433Asn)
c.13296G>T (p.Lys4432Asn)
c.13248G>T (p.Lys4416Asn)
c.13236G>T (p.Lys4412Asn)
c.13098G>T (p.Lys4366Asn)
c.12945G>T (p.Lys4315Asn)
Xg.53534063C=CA2429868898HUWE1c.12750G= (p.Lys4250=)
c.12966G= (p.Lys4322=)
c.3433G=
n.279G=
c.12939G= (p.Lys4313=)
c.13215G= (p.Lys4405=)
c.13212G= (p.Lys4404=)
c.13170G= (p.Lys4390=)
c.13167G= (p.Lys4389=)
c.13164G= (p.Lys4388=)
c.13116G= (p.Lys4372=)
c.12813G= (p.Lys4271=)
c.13347G= (p.Lys4449=)
c.13344G= (p.Lys4448=)
c.13326G= (p.Lys4442=)
c.13302G= (p.Lys4434=)
c.13299G= (p.Lys4433=)
c.13296G= (p.Lys4432=)
c.13248G= (p.Lys4416=)
c.13236G= (p.Lys4412=)
c.13098G= (p.Lys4366=)
c.12945G= (p.Lys4315=)
Xg.53534063C>GCA413143945HUWE1c.12750G>C (p.Lys4250Asn)
c.12966G>C (p.Lys4322Asn)
c.3433G>C
n.279G>C
c.12939G>C (p.Lys4313Asn)
c.13215G>C (p.Lys4405Asn)
c.13212G>C (p.Lys4404Asn)
c.13170G>C (p.Lys4390Asn)
c.13167G>C (p.Lys4389Asn)
c.13164G>C (p.Lys4388Asn)
c.13116G>C (p.Lys4372Asn)
c.12813G>C (p.Lys4271Asn)
c.13347G>C (p.Lys4449Asn)
c.13344G>C (p.Lys4448Asn)
c.13326G>C (p.Lys4442Asn)
c.13302G>C (p.Lys4434Asn)
c.13299G>C (p.Lys4433Asn)
c.13296G>C (p.Lys4432Asn)
c.13248G>C (p.Lys4416Asn)
c.13236G>C (p.Lys4412Asn)
c.13098G>C (p.Lys4366Asn)
c.12945G>C (p.Lys4315Asn)
Xg.53534063C>TCA516418603HUWE1c.12750G>A (p.Lys4250=)
c.12966G>A (p.Lys4322=)
c.3433G>A
n.279G>A
c.12939G>A (p.Lys4313=)
c.13215G>A (p.Lys4405=)
c.13212G>A (p.Lys4404=)
c.13170G>A (p.Lys4390=)
c.13167G>A (p.Lys4389=)
c.13164G>A (p.Lys4388=)
c.13116G>A (p.Lys4372=)
c.12813G>A (p.Lys4271=)
c.13347G>A (p.Lys4449=)
c.13344G>A (p.Lys4448=)
c.13326G>A (p.Lys4442=)
c.13302G>A (p.Lys4434=)
c.13299G>A (p.Lys4433=)
c.13296G>A (p.Lys4432=)
c.13248G>A (p.Lys4416=)
c.13236G>A (p.Lys4412=)
c.13098G>A (p.Lys4366=)
c.12945G>A (p.Lys4315=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53534064T>ACA413143950HUWE1c.12749A>T (p.Lys4250Met)
c.12965A>T (p.Lys4322Met)
c.3432A>T
n.278A>T
c.12938A>T (p.Lys4313Met)
c.13214A>T (p.Lys4405Met)
c.13211A>T (p.Lys4404Met)
c.13169A>T (p.Lys4390Met)
c.13166A>T (p.Lys4389Met)
c.13163A>T (p.Lys4388Met)
c.13115A>T (p.Lys4372Met)
c.12812A>T (p.Lys4271Met)
c.13346A>T (p.Lys4449Met)
c.13343A>T (p.Lys4448Met)
c.13325A>T (p.Lys4442Met)
c.13301A>T (p.Lys4434Met)
c.13298A>T (p.Lys4433Met)
c.13295A>T (p.Lys4432Met)
c.13247A>T (p.Lys4416Met)
c.13235A>T (p.Lys4412Met)
c.13097A>T (p.Lys4366Met)
c.12944A>T (p.Lys4315Met)
Xg.53534064T>CCA413143956HUWE1c.12749A>G (p.Lys4250Arg)
c.12965A>G (p.Lys4322Arg)
c.3432A>G
n.278A>G
c.12938A>G (p.Lys4313Arg)
c.13214A>G (p.Lys4405Arg)
c.13211A>G (p.Lys4404Arg)
c.13169A>G (p.Lys4390Arg)
c.13166A>G (p.Lys4389Arg)
c.13163A>G (p.Lys4388Arg)
c.13115A>G (p.Lys4372Arg)
c.12812A>G (p.Lys4271Arg)
c.13346A>G (p.Lys4449Arg)
c.13343A>G (p.Lys4448Arg)
c.13325A>G (p.Lys4442Arg)
c.13301A>G (p.Lys4434Arg)
c.13298A>G (p.Lys4433Arg)
c.13295A>G (p.Lys4432Arg)
c.13247A>G (p.Lys4416Arg)
c.13235A>G (p.Lys4412Arg)
c.13097A>G (p.Lys4366Arg)
c.12944A>G (p.Lys4315Arg)
Xg.53534064T>GCA413143961HUWE1c.12749A>C (p.Lys4250Thr)
c.12965A>C (p.Lys4322Thr)
c.3432A>C
n.278A>C
c.12938A>C (p.Lys4313Thr)
c.13214A>C (p.Lys4405Thr)
c.13211A>C (p.Lys4404Thr)
c.13169A>C (p.Lys4390Thr)
c.13166A>C (p.Lys4389Thr)
c.13163A>C (p.Lys4388Thr)
c.13115A>C (p.Lys4372Thr)
c.12812A>C (p.Lys4271Thr)
c.13346A>C (p.Lys4449Thr)
c.13343A>C (p.Lys4448Thr)
c.13325A>C (p.Lys4442Thr)
c.13301A>C (p.Lys4434Thr)
c.13298A>C (p.Lys4433Thr)
c.13295A>C (p.Lys4432Thr)
c.13247A>C (p.Lys4416Thr)
c.13235A>C (p.Lys4412Thr)
c.13097A>C (p.Lys4366Thr)
c.12944A>C (p.Lys4315Thr)
Xg.53534065T>ACA413143962HUWE1c.12748A>T (p.Lys4250Ter)
c.12964A>T (p.Lys4322Ter)
c.3431A>T
n.277A>T
c.12937A>T (p.Lys4313Ter)
c.13213A>T (p.Lys4405Ter)
c.13210A>T (p.Lys4404Ter)
c.13168A>T (p.Lys4390Ter)
c.13165A>T (p.Lys4389Ter)
c.13162A>T (p.Lys4388Ter)
c.13114A>T (p.Lys4372Ter)
c.12811A>T (p.Lys4271Ter)
c.13345A>T (p.Lys4449Ter)
c.13342A>T (p.Lys4448Ter)
c.13324A>T (p.Lys4442Ter)
c.13300A>T (p.Lys4434Ter)
c.13297A>T (p.Lys4433Ter)
c.13294A>T (p.Lys4432Ter)
c.13246A>T (p.Lys4416Ter)
c.13234A>T (p.Lys4412Ter)
c.13096A>T (p.Lys4366Ter)
c.12943A>T (p.Lys4315Ter)
Xg.53534065T>CCA413143963HUWE1c.12748A>G (p.Lys4250Glu)
c.12964A>G (p.Lys4322Glu)
c.3431A>G
n.277A>G
c.12937A>G (p.Lys4313Glu)
c.13213A>G (p.Lys4405Glu)
c.13210A>G (p.Lys4404Glu)
c.13168A>G (p.Lys4390Glu)
c.13165A>G (p.Lys4389Glu)
c.13162A>G (p.Lys4388Glu)
c.13114A>G (p.Lys4372Glu)
c.12811A>G (p.Lys4271Glu)
c.13345A>G (p.Lys4449Glu)
c.13342A>G (p.Lys4448Glu)
c.13324A>G (p.Lys4442Glu)
c.13300A>G (p.Lys4434Glu)
c.13297A>G (p.Lys4433Glu)
c.13294A>G (p.Lys4432Glu)
c.13246A>G (p.Lys4416Glu)
c.13234A>G (p.Lys4412Glu)
c.13096A>G (p.Lys4366Glu)
c.12943A>G (p.Lys4315Glu)
Xg.53534065T>GCA413143964HUWE1c.12748A>C (p.Lys4250Gln)
c.12964A>C (p.Lys4322Gln)
c.3431A>C
n.277A>C
c.12937A>C (p.Lys4313Gln)
c.13213A>C (p.Lys4405Gln)
c.13210A>C (p.Lys4404Gln)
c.13168A>C (p.Lys4390Gln)
c.13165A>C (p.Lys4389Gln)
c.13162A>C (p.Lys4388Gln)
c.13114A>C (p.Lys4372Gln)
c.12811A>C (p.Lys4271Gln)
c.13345A>C (p.Lys4449Gln)
c.13342A>C (p.Lys4448Gln)
c.13324A>C (p.Lys4442Gln)
c.13300A>C (p.Lys4434Gln)
c.13297A>C (p.Lys4433Gln)
c.13294A>C (p.Lys4432Gln)
c.13246A>C (p.Lys4416Gln)
c.13234A>C (p.Lys4412Gln)
c.13096A>C (p.Lys4366Gln)
c.12943A>C (p.Lys4315Gln)
Xg.53534066C>ACA413143967HUWE1c.12747G>T (p.Gln4249His)
c.12963G>T (p.Gln4321His)
c.3430G>T
n.276G>T
c.12936G>T (p.Gln4312His)
c.13212G>T (p.Gln4404His)
c.13209G>T (p.Gln4403His)
c.13167G>T (p.Gln4389His)
c.13164G>T (p.Gln4388His)
c.13161G>T (p.Gln4387His)
c.13113G>T (p.Gln4371His)
c.12810G>T (p.Gln4270His)
c.13344G>T (p.Gln4448His)
c.13341G>T (p.Gln4447His)
c.13323G>T (p.Gln4441His)
c.13299G>T (p.Gln4433His)
c.13296G>T (p.Gln4432His)
c.13293G>T (p.Gln4431His)
c.13245G>T (p.Gln4415His)
c.13233G>T (p.Gln4411His)
c.13095G>T (p.Gln4365His)
c.12942G>T (p.Gln4314His)
Xg.53534066C>GCA413143975HUWE1c.12747G>C (p.Gln4249His)
c.12963G>C (p.Gln4321His)
c.3430G>C
n.276G>C
c.12936G>C (p.Gln4312His)
c.13212G>C (p.Gln4404His)
c.13209G>C (p.Gln4403His)
c.13167G>C (p.Gln4389His)
c.13164G>C (p.Gln4388His)
c.13161G>C (p.Gln4387His)
c.13113G>C (p.Gln4371His)
c.12810G>C (p.Gln4270His)
c.13344G>C (p.Gln4448His)
c.13341G>C (p.Gln4447His)
c.13323G>C (p.Gln4441His)
c.13299G>C (p.Gln4433His)
c.13296G>C (p.Gln4432His)
c.13293G>C (p.Gln4431His)
c.13245G>C (p.Gln4415His)
c.13233G>C (p.Gln4411His)
c.13095G>C (p.Gln4365His)
c.12942G>C (p.Gln4314His)
Xg.53534066C>TCA516418623HUWE1c.12747G>A (p.Gln4249=)
c.12963G>A (p.Gln4321=)
c.3430G>A
n.276G>A
c.12936G>A (p.Gln4312=)
c.13212G>A (p.Gln4404=)
c.13209G>A (p.Gln4403=)
c.13167G>A (p.Gln4389=)
c.13164G>A (p.Gln4388=)
c.13161G>A (p.Gln4387=)
c.13113G>A (p.Gln4371=)
c.12810G>A (p.Gln4270=)
c.13344G>A (p.Gln4448=)
c.13341G>A (p.Gln4447=)
c.13323G>A (p.Gln4441=)
c.13299G>A (p.Gln4433=)
c.13296G>A (p.Gln4432=)
c.13293G>A (p.Gln4431=)
c.13245G>A (p.Gln4415=)
c.13233G>A (p.Gln4411=)
c.13095G>A (p.Gln4365=)
c.12942G>A (p.Gln4314=)
Xg.53534067T>ACA413143980HUWE1c.12746A>T (p.Gln4249Leu)
c.12962A>T (p.Gln4321Leu)
c.3429A>T
n.275A>T
c.12935A>T (p.Gln4312Leu)
c.13211A>T (p.Gln4404Leu)
c.13208A>T (p.Gln4403Leu)
c.13166A>T (p.Gln4389Leu)
c.13163A>T (p.Gln4388Leu)
c.13160A>T (p.Gln4387Leu)
c.13112A>T (p.Gln4371Leu)
c.12809A>T (p.Gln4270Leu)
c.13343A>T (p.Gln4448Leu)
c.13340A>T (p.Gln4447Leu)
c.13322A>T (p.Gln4441Leu)
c.13298A>T (p.Gln4433Leu)
c.13295A>T (p.Gln4432Leu)
c.13292A>T (p.Gln4431Leu)
c.13244A>T (p.Gln4415Leu)
c.13232A>T (p.Gln4411Leu)
c.13094A>T (p.Gln4365Leu)
c.12941A>T (p.Gln4314Leu)
Xg.53534067T>CCA413143984HUWE1c.12746A>G (p.Gln4249Arg)
c.12962A>G (p.Gln4321Arg)
c.3429A>G
n.275A>G
c.12935A>G (p.Gln4312Arg)
c.13211A>G (p.Gln4404Arg)
c.13208A>G (p.Gln4403Arg)
c.13166A>G (p.Gln4389Arg)
c.13163A>G (p.Gln4388Arg)
c.13160A>G (p.Gln4387Arg)
c.13112A>G (p.Gln4371Arg)
c.12809A>G (p.Gln4270Arg)
c.13343A>G (p.Gln4448Arg)
c.13340A>G (p.Gln4447Arg)
c.13322A>G (p.Gln4441Arg)
c.13298A>G (p.Gln4433Arg)
c.13295A>G (p.Gln4432Arg)
c.13292A>G (p.Gln4431Arg)
c.13244A>G (p.Gln4415Arg)
c.13232A>G (p.Gln4411Arg)
c.13094A>G (p.Gln4365Arg)
c.12941A>G (p.Gln4314Arg)
Xg.53534067T>GCA413143990HUWE1c.12746A>C (p.Gln4249Pro)
c.12962A>C (p.Gln4321Pro)
c.3429A>C
n.275A>C
c.12935A>C (p.Gln4312Pro)
c.13211A>C (p.Gln4404Pro)
c.13208A>C (p.Gln4403Pro)
c.13166A>C (p.Gln4389Pro)
c.13163A>C (p.Gln4388Pro)
c.13160A>C (p.Gln4387Pro)
c.13112A>C (p.Gln4371Pro)
c.12809A>C (p.Gln4270Pro)
c.13343A>C (p.Gln4448Pro)
c.13340A>C (p.Gln4447Pro)
c.13322A>C (p.Gln4441Pro)
c.13298A>C (p.Gln4433Pro)
c.13295A>C (p.Gln4432Pro)
c.13292A>C (p.Gln4431Pro)
c.13244A>C (p.Gln4415Pro)
c.13232A>C (p.Gln4411Pro)
c.13094A>C (p.Gln4365Pro)
c.12941A>C (p.Gln4314Pro)
Xg.53534068G>ACA413144007HUWE1c.12745C>T (p.Gln4249Ter)
c.12961C>T (p.Gln4321Ter)
c.3428C>T
n.274C>T
c.12934C>T (p.Gln4312Ter)
c.13210C>T (p.Gln4404Ter)
c.13207C>T (p.Gln4403Ter)
c.13165C>T (p.Gln4389Ter)
c.13162C>T (p.Gln4388Ter)
c.13159C>T (p.Gln4387Ter)
c.13111C>T (p.Gln4371Ter)
c.12808C>T (p.Gln4270Ter)
c.13342C>T (p.Gln4448Ter)
c.13339C>T (p.Gln4447Ter)
c.13321C>T (p.Gln4441Ter)
c.13297C>T (p.Gln4433Ter)
c.13294C>T (p.Gln4432Ter)
c.13291C>T (p.Gln4431Ter)
c.13243C>T (p.Gln4415Ter)
c.13231C>T (p.Gln4411Ter)
c.13093C>T (p.Gln4365Ter)
c.12940C>T (p.Gln4314Ter)
Xg.53534068G>CCA413143996HUWE1c.12745C>G (p.Gln4249Glu)
c.12961C>G (p.Gln4321Glu)
c.3428C>G
n.274C>G
c.12934C>G (p.Gln4312Glu)
c.13210C>G (p.Gln4404Glu)
c.13207C>G (p.Gln4403Glu)
c.13165C>G (p.Gln4389Glu)
c.13162C>G (p.Gln4388Glu)
c.13159C>G (p.Gln4387Glu)
c.13111C>G (p.Gln4371Glu)
c.12808C>G (p.Gln4270Glu)
c.13342C>G (p.Gln4448Glu)
c.13339C>G (p.Gln4447Glu)
c.13321C>G (p.Gln4441Glu)
c.13297C>G (p.Gln4433Glu)
c.13294C>G (p.Gln4432Glu)
c.13291C>G (p.Gln4431Glu)
c.13243C>G (p.Gln4415Glu)
c.13231C>G (p.Gln4411Glu)
c.13093C>G (p.Gln4365Glu)
c.12940C>G (p.Gln4314Glu)
Xg.53534068G>TCA413144000HUWE1c.12745C>A (p.Gln4249Lys)
c.12961C>A (p.Gln4321Lys)
c.3428C>A
n.274C>A
c.12934C>A (p.Gln4312Lys)
c.13210C>A (p.Gln4404Lys)
c.13207C>A (p.Gln4403Lys)
c.13165C>A (p.Gln4389Lys)
c.13162C>A (p.Gln4388Lys)
c.13159C>A (p.Gln4387Lys)
c.13111C>A (p.Gln4371Lys)
c.12808C>A (p.Gln4270Lys)
c.13342C>A (p.Gln4448Lys)
c.13339C>A (p.Gln4447Lys)
c.13321C>A (p.Gln4441Lys)
c.13297C>A (p.Gln4433Lys)
c.13294C>A (p.Gln4432Lys)
c.13291C>A (p.Gln4431Lys)
c.13243C>A (p.Gln4415Lys)
c.13231C>A (p.Gln4411Lys)
c.13093C>A (p.Gln4365Lys)
c.12940C>A (p.Gln4314Lys)
Xg.53534069A>CCA413144010HUWE1c.12744T>G (p.Ile4248Met)
c.12960T>G (p.Ile4320Met)
c.3427T>G
n.273T>G
c.12933T>G (p.Ile4311Met)
c.13209T>G (p.Ile4403Met)
c.13206T>G (p.Ile4402Met)
c.13164T>G (p.Ile4388Met)
c.13161T>G (p.Ile4387Met)
c.13158T>G (p.Ile4386Met)
c.13110T>G (p.Ile4370Met)
c.12807T>G (p.Ile4269Met)
c.13341T>G (p.Ile4447Met)
c.13338T>G (p.Ile4446Met)
c.13320T>G (p.Ile4440Met)
c.13296T>G (p.Ile4432Met)
c.13293T>G (p.Ile4431Met)
c.13290T>G (p.Ile4430Met)
c.13242T>G (p.Ile4414Met)
c.13230T>G (p.Ile4410Met)
c.13092T>G (p.Ile4364Met)
c.12939T>G (p.Ile4313Met)
Xg.53534069A>GCA516418640HUWE1c.12744T>C (p.Ile4248=)
c.12960T>C (p.Ile4320=)
c.3427T>C
n.273T>C
c.12933T>C (p.Ile4311=)
c.13209T>C (p.Ile4403=)
c.13206T>C (p.Ile4402=)
c.13164T>C (p.Ile4388=)
c.13161T>C (p.Ile4387=)
c.13158T>C (p.Ile4386=)
c.13110T>C (p.Ile4370=)
c.12807T>C (p.Ile4269=)
c.13341T>C (p.Ile4447=)
c.13338T>C (p.Ile4446=)
c.13320T>C (p.Ile4440=)
c.13296T>C (p.Ile4432=)
c.13293T>C (p.Ile4431=)
c.13290T>C (p.Ile4430=)
c.13242T>C (p.Ile4414=)
c.13230T>C (p.Ile4410=)
c.13092T>C (p.Ile4364=)
c.12939T>C (p.Ile4313=)
Xg.53534069A>TCA516418642HUWE1c.12744T>A (p.Ile4248=)
c.12960T>A (p.Ile4320=)
c.3427T>A
n.273T>A
c.12933T>A (p.Ile4311=)
c.13209T>A (p.Ile4403=)
c.13206T>A (p.Ile4402=)
c.13164T>A (p.Ile4388=)
c.13161T>A (p.Ile4387=)
c.13158T>A (p.Ile4386=)
c.13110T>A (p.Ile4370=)
c.12807T>A (p.Ile4269=)
c.13341T>A (p.Ile4447=)
c.13338T>A (p.Ile4446=)
c.13320T>A (p.Ile4440=)
c.13296T>A (p.Ile4432=)
c.13293T>A (p.Ile4431=)
c.13290T>A (p.Ile4430=)
c.13242T>A (p.Ile4414=)
c.13230T>A (p.Ile4410=)
c.13092T>A (p.Ile4364=)
c.12939T>A (p.Ile4313=)
Xg.53534070A=CA2429868899HUWE1c.12743T= (p.Ile4248=)
c.12959T= (p.Ile4320=)
c.3426T=
n.272T=
c.12932T= (p.Ile4311=)
c.13208T= (p.Ile4403=)
c.13205T= (p.Ile4402=)
c.13163T= (p.Ile4388=)
c.13160T= (p.Ile4387=)
c.13157T= (p.Ile4386=)
c.13109T= (p.Ile4370=)
c.12806T= (p.Ile4269=)
c.13340T= (p.Ile4447=)
c.13337T= (p.Ile4446=)
c.13319T= (p.Ile4440=)
c.13295T= (p.Ile4432=)
c.13292T= (p.Ile4431=)
c.13289T= (p.Ile4430=)
c.13241T= (p.Ile4414=)
c.13229T= (p.Ile4410=)
c.13091T= (p.Ile4364=)
c.12938T= (p.Ile4313=)
Xg.53534070A>CCA10421112HUWE1c.12743T>G (p.Ile4248Ser)
c.12959T>G (p.Ile4320Ser)
c.3426T>G
n.272T>G
c.12932T>G (p.Ile4311Ser)
c.13208T>G (p.Ile4403Ser)
c.13205T>G (p.Ile4402Ser)
c.13163T>G (p.Ile4388Ser)
c.13160T>G (p.Ile4387Ser)
c.13157T>G (p.Ile4386Ser)
c.13109T>G (p.Ile4370Ser)
c.12806T>G (p.Ile4269Ser)
c.13340T>G (p.Ile4447Ser)
c.13337T>G (p.Ile4446Ser)
c.13319T>G (p.Ile4440Ser)
c.13295T>G (p.Ile4432Ser)
c.13292T>G (p.Ile4431Ser)
c.13289T>G (p.Ile4430Ser)
c.13241T>G (p.Ile4414Ser)
c.13229T>G (p.Ile4410Ser)
c.13091T>G (p.Ile4364Ser)
c.12938T>G (p.Ile4313Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53534070A>GCA413144013HUWE1c.12743T>C (p.Ile4248Thr)
c.12959T>C (p.Ile4320Thr)
c.3426T>C
n.272T>C
c.12932T>C (p.Ile4311Thr)
c.13208T>C (p.Ile4403Thr)
c.13205T>C (p.Ile4402Thr)
c.13163T>C (p.Ile4388Thr)
c.13160T>C (p.Ile4387Thr)
c.13157T>C (p.Ile4386Thr)
c.13109T>C (p.Ile4370Thr)
c.12806T>C (p.Ile4269Thr)
c.13340T>C (p.Ile4447Thr)
c.13337T>C (p.Ile4446Thr)
c.13319T>C (p.Ile4440Thr)
c.13295T>C (p.Ile4432Thr)
c.13292T>C (p.Ile4431Thr)
c.13289T>C (p.Ile4430Thr)
c.13241T>C (p.Ile4414Thr)
c.13229T>C (p.Ile4410Thr)
c.13091T>C (p.Ile4364Thr)
c.12938T>C (p.Ile4313Thr)
Xg.53534070A>TCA413144017HUWE1c.12743T>A (p.Ile4248Asn)
c.12959T>A (p.Ile4320Asn)
c.3426T>A
n.272T>A
c.12932T>A (p.Ile4311Asn)
c.13208T>A (p.Ile4403Asn)
c.13205T>A (p.Ile4402Asn)
c.13163T>A (p.Ile4388Asn)
c.13160T>A (p.Ile4387Asn)
c.13157T>A (p.Ile4386Asn)
c.13109T>A (p.Ile4370Asn)
c.12806T>A (p.Ile4269Asn)
c.13340T>A (p.Ile4447Asn)
c.13337T>A (p.Ile4446Asn)
c.13319T>A (p.Ile4440Asn)
c.13295T>A (p.Ile4432Asn)
c.13292T>A (p.Ile4431Asn)
c.13289T>A (p.Ile4430Asn)
c.13241T>A (p.Ile4414Asn)
c.13229T>A (p.Ile4410Asn)
c.13091T>A (p.Ile4364Asn)
c.12938T>A (p.Ile4313Asn)
Xg.53534071T>ACA413144023HUWE1c.12742A>T (p.Ile4248Phe)
c.12958A>T (p.Ile4320Phe)
c.3425A>T
n.271A>T
c.12931A>T (p.Ile4311Phe)
c.13207A>T (p.Ile4403Phe)
c.13204A>T (p.Ile4402Phe)
c.13162A>T (p.Ile4388Phe)
c.13159A>T (p.Ile4387Phe)
c.13156A>T (p.Ile4386Phe)
c.13108A>T (p.Ile4370Phe)
c.12805A>T (p.Ile4269Phe)
c.13339A>T (p.Ile4447Phe)
c.13336A>T (p.Ile4446Phe)
c.13318A>T (p.Ile4440Phe)
c.13294A>T (p.Ile4432Phe)
c.13291A>T (p.Ile4431Phe)
c.13288A>T (p.Ile4430Phe)
c.13240A>T (p.Ile4414Phe)
c.13228A>T (p.Ile4410Phe)
c.13090A>T (p.Ile4364Phe)
c.12937A>T (p.Ile4313Phe)
 ClinVar dbSNP
Xg.53534071T>CCA413144040HUWE1c.12742A>G (p.Ile4248Val)
c.12958A>G (p.Ile4320Val)
c.3425A>G
n.271A>G
c.12931A>G (p.Ile4311Val)
c.13207A>G (p.Ile4403Val)
c.13204A>G (p.Ile4402Val)
c.13162A>G (p.Ile4388Val)
c.13159A>G (p.Ile4387Val)
c.13156A>G (p.Ile4386Val)
c.13108A>G (p.Ile4370Val)
c.12805A>G (p.Ile4269Val)
c.13339A>G (p.Ile4447Val)
c.13336A>G (p.Ile4446Val)
c.13318A>G (p.Ile4440Val)
c.13294A>G (p.Ile4432Val)
c.13291A>G (p.Ile4431Val)
c.13288A>G (p.Ile4430Val)
c.13240A>G (p.Ile4414Val)
c.13228A>G (p.Ile4410Val)
c.13090A>G (p.Ile4364Val)
c.12937A>G (p.Ile4313Val)
Xg.53534071T>GCA413144045HUWE1c.12742A>C (p.Ile4248Leu)
c.12958A>C (p.Ile4320Leu)
c.3425A>C
n.271A>C
c.12931A>C (p.Ile4311Leu)
c.13207A>C (p.Ile4403Leu)
c.13204A>C (p.Ile4402Leu)
c.13162A>C (p.Ile4388Leu)
c.13159A>C (p.Ile4387Leu)
c.13156A>C (p.Ile4386Leu)
c.13108A>C (p.Ile4370Leu)
c.12805A>C (p.Ile4269Leu)
c.13339A>C (p.Ile4447Leu)
c.13336A>C (p.Ile4446Leu)
c.13318A>C (p.Ile4440Leu)
c.13294A>C (p.Ile4432Leu)
c.13291A>C (p.Ile4431Leu)
c.13288A>C (p.Ile4430Leu)
c.13240A>C (p.Ile4414Leu)
c.13228A>C (p.Ile4410Leu)
c.13090A>C (p.Ile4364Leu)
c.12937A>C (p.Ile4313Leu)
Xg.53534071T=CA2429868900HUWE1c.12742A= (p.Ile4248=)
c.12958A= (p.Ile4320=)
c.3425A=
n.271A=
c.12931A= (p.Ile4311=)
c.13207A= (p.Ile4403=)
c.13204A= (p.Ile4402=)
c.13162A= (p.Ile4388=)
c.13159A= (p.Ile4387=)
c.13156A= (p.Ile4386=)
c.13108A= (p.Ile4370=)
c.12805A= (p.Ile4269=)
c.13339A= (p.Ile4447=)
c.13336A= (p.Ile4446=)
c.13318A= (p.Ile4440=)
c.13294A= (p.Ile4432=)
c.13291A= (p.Ile4431=)
c.13288A= (p.Ile4430=)
c.13240A= (p.Ile4414=)
c.13228A= (p.Ile4410=)
c.13090A= (p.Ile4364=)
c.12937A= (p.Ile4313=)
Xg.53534072G>ACA10421113HUWE1c.12741C>T (p.Gly4247=)
c.12957C>T (p.Gly4319=)
c.3424C>T
n.270C>T
c.12930C>T (p.Gly4310=)
c.13206C>T (p.Gly4402=)
c.13203C>T (p.Gly4401=)
c.13161C>T (p.Gly4387=)
c.13158C>T (p.Gly4386=)
c.13155C>T (p.Gly4385=)
c.13107C>T (p.Gly4369=)
c.12804C>T (p.Gly4268=)
c.13338C>T (p.Gly4446=)
c.13335C>T (p.Gly4445=)
c.13317C>T (p.Gly4439=)
c.13293C>T (p.Gly4431=)
c.13290C>T (p.Gly4430=)
c.13287C>T (p.Gly4429=)
c.13239C>T (p.Gly4413=)
c.13227C>T (p.Gly4409=)
c.13089C>T (p.Gly4363=)
c.12936C>T (p.Gly4312=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53534072G>CCA516418654HUWE1c.12741C>G (p.Gly4247=)
c.12957C>G (p.Gly4319=)
c.3424C>G
n.270C>G
c.12930C>G (p.Gly4310=)
c.13206C>G (p.Gly4402=)
c.13203C>G (p.Gly4401=)
c.13161C>G (p.Gly4387=)
c.13158C>G (p.Gly4386=)
c.13155C>G (p.Gly4385=)
c.13107C>G (p.Gly4369=)
c.12804C>G (p.Gly4268=)
c.13338C>G (p.Gly4446=)
c.13335C>G (p.Gly4445=)
c.13317C>G (p.Gly4439=)
c.13293C>G (p.Gly4431=)
c.13290C>G (p.Gly4430=)
c.13287C>G (p.Gly4429=)
c.13239C>G (p.Gly4413=)
c.13227C>G (p.Gly4409=)
c.13089C>G (p.Gly4363=)
c.12936C>G (p.Gly4312=)
Xg.53534072G=CA2429868901HUWE1c.12741C= (p.Gly4247=)
c.12957C= (p.Gly4319=)
c.3424C=
n.270C=
c.12930C= (p.Gly4310=)
c.13206C= (p.Gly4402=)
c.13203C= (p.Gly4401=)
c.13161C= (p.Gly4387=)
c.13158C= (p.Gly4386=)
c.13155C= (p.Gly4385=)
c.13107C= (p.Gly4369=)
c.12804C= (p.Gly4268=)
c.13338C= (p.Gly4446=)
c.13335C= (p.Gly4445=)
c.13317C= (p.Gly4439=)
c.13293C= (p.Gly4431=)
c.13290C= (p.Gly4430=)
c.13287C= (p.Gly4429=)
c.13239C= (p.Gly4413=)
c.13227C= (p.Gly4409=)
c.13089C= (p.Gly4363=)
c.12936C= (p.Gly4312=)
Xg.53534072G>TCA516418655HUWE1c.12741C>A (p.Gly4247=)
c.12957C>A (p.Gly4319=)
c.3424C>A
n.270C>A
c.12930C>A (p.Gly4310=)
c.13206C>A (p.Gly4402=)
c.13203C>A (p.Gly4401=)
c.13161C>A (p.Gly4387=)
c.13158C>A (p.Gly4386=)
c.13155C>A (p.Gly4385=)
c.13107C>A (p.Gly4369=)
c.12804C>A (p.Gly4268=)
c.13338C>A (p.Gly4446=)
c.13335C>A (p.Gly4445=)
c.13317C>A (p.Gly4439=)
c.13293C>A (p.Gly4431=)
c.13290C>A (p.Gly4430=)
c.13287C>A (p.Gly4429=)
c.13239C>A (p.Gly4413=)
c.13227C>A (p.Gly4409=)
c.13089C>A (p.Gly4363=)
c.12936C>A (p.Gly4312=)
Xg.53534073C>ACA413144052HUWE1c.12740G>T (p.Gly4247Val)
c.12956G>T (p.Gly4319Val)
c.3423G>T
n.269G>T
c.12929G>T (p.Gly4310Val)
c.13205G>T (p.Gly4402Val)
c.13202G>T (p.Gly4401Val)
c.13160G>T (p.Gly4387Val)
c.13157G>T (p.Gly4386Val)
c.13154G>T (p.Gly4385Val)
c.13106G>T (p.Gly4369Val)
c.12803G>T (p.Gly4268Val)
c.13337G>T (p.Gly4446Val)
c.13334G>T (p.Gly4445Val)
c.13316G>T (p.Gly4439Val)
c.13292G>T (p.Gly4431Val)
c.13289G>T (p.Gly4430Val)
c.13286G>T (p.Gly4429Val)
c.13238G>T (p.Gly4413Val)
c.13226G>T (p.Gly4409Val)
c.13088G>T (p.Gly4363Val)
c.12935G>T (p.Gly4312Val)
Xg.53534073C>GCA413144056HUWE1c.12740G>C (p.Gly4247Ala)
c.12956G>C (p.Gly4319Ala)
c.3423G>C
n.269G>C
c.12929G>C (p.Gly4310Ala)
c.13205G>C (p.Gly4402Ala)
c.13202G>C (p.Gly4401Ala)
c.13160G>C (p.Gly4387Ala)
c.13157G>C (p.Gly4386Ala)
c.13154G>C (p.Gly4385Ala)
c.13106G>C (p.Gly4369Ala)
c.12803G>C (p.Gly4268Ala)
c.13337G>C (p.Gly4446Ala)
c.13334G>C (p.Gly4445Ala)
c.13316G>C (p.Gly4439Ala)
c.13292G>C (p.Gly4431Ala)
c.13289G>C (p.Gly4430Ala)
c.13286G>C (p.Gly4429Ala)
c.13238G>C (p.Gly4413Ala)
c.13226G>C (p.Gly4409Ala)
c.13088G>C (p.Gly4363Ala)
c.12935G>C (p.Gly4312Ala)
Xg.53534073C>TCA413144057HUWE1c.12740G>A (p.Gly4247Asp)
c.12956G>A (p.Gly4319Asp)
c.3423G>A
n.269G>A
c.12929G>A (p.Gly4310Asp)
c.13205G>A (p.Gly4402Asp)
c.13202G>A (p.Gly4401Asp)
c.13160G>A (p.Gly4387Asp)
c.13157G>A (p.Gly4386Asp)
c.13154G>A (p.Gly4385Asp)
c.13106G>A (p.Gly4369Asp)
c.12803G>A (p.Gly4268Asp)
c.13337G>A (p.Gly4446Asp)
c.13334G>A (p.Gly4445Asp)
c.13316G>A (p.Gly4439Asp)
c.13292G>A (p.Gly4431Asp)
c.13289G>A (p.Gly4430Asp)
c.13286G>A (p.Gly4429Asp)
c.13238G>A (p.Gly4413Asp)
c.13226G>A (p.Gly4409Asp)
c.13088G>A (p.Gly4363Asp)
c.12935G>A (p.Gly4312Asp)
Xg.53534074C>ACA413144058HUWE1c.12739G>T (p.Gly4247Cys)
c.12955G>T (p.Gly4319Cys)
c.3422G>T
n.268G>T
c.12928G>T (p.Gly4310Cys)
c.13204G>T (p.Gly4402Cys)
c.13201G>T (p.Gly4401Cys)
c.13159G>T (p.Gly4387Cys)
c.13156G>T (p.Gly4386Cys)
c.13153G>T (p.Gly4385Cys)
c.13105G>T (p.Gly4369Cys)
c.12802G>T (p.Gly4268Cys)
c.13336G>T (p.Gly4446Cys)
c.13333G>T (p.Gly4445Cys)
c.13315G>T (p.Gly4439Cys)
c.13291G>T (p.Gly4431Cys)
c.13288G>T (p.Gly4430Cys)
c.13285G>T (p.Gly4429Cys)
c.13237G>T (p.Gly4413Cys)
c.13225G>T (p.Gly4409Cys)
c.13087G>T (p.Gly4363Cys)
c.12934G>T (p.Gly4312Cys)
Xg.53534074C>GCA413144062HUWE1c.12739G>C (p.Gly4247Arg)
c.12955G>C (p.Gly4319Arg)
c.3422G>C
n.268G>C
c.12928G>C (p.Gly4310Arg)
c.13204G>C (p.Gly4402Arg)
c.13201G>C (p.Gly4401Arg)
c.13159G>C (p.Gly4387Arg)
c.13156G>C (p.Gly4386Arg)
c.13153G>C (p.Gly4385Arg)
c.13105G>C (p.Gly4369Arg)
c.12802G>C (p.Gly4268Arg)
c.13336G>C (p.Gly4446Arg)
c.13333G>C (p.Gly4445Arg)
c.13315G>C (p.Gly4439Arg)
c.13291G>C (p.Gly4431Arg)
c.13288G>C (p.Gly4430Arg)
c.13285G>C (p.Gly4429Arg)
c.13237G>C (p.Gly4413Arg)
c.13225G>C (p.Gly4409Arg)
c.13087G>C (p.Gly4363Arg)
c.12934G>C (p.Gly4312Arg)
Xg.53534074C>TCA413144059HUWE1c.12739G>A (p.Gly4247Ser)
c.12955G>A (p.Gly4319Ser)
c.3422G>A
n.268G>A
c.12928G>A (p.Gly4310Ser)
c.13204G>A (p.Gly4402Ser)
c.13201G>A (p.Gly4401Ser)
c.13159G>A (p.Gly4387Ser)
c.13156G>A (p.Gly4386Ser)
c.13153G>A (p.Gly4385Ser)
c.13105G>A (p.Gly4369Ser)
c.12802G>A (p.Gly4268Ser)
c.13336G>A (p.Gly4446Ser)
c.13333G>A (p.Gly4445Ser)
c.13315G>A (p.Gly4439Ser)
c.13291G>A (p.Gly4431Ser)
c.13288G>A (p.Gly4430Ser)
c.13285G>A (p.Gly4429Ser)
c.13237G>A (p.Gly4413Ser)
c.13225G>A (p.Gly4409Ser)
c.13087G>A (p.Gly4363Ser)
c.12934G>A (p.Gly4312Ser)
Xg.53534075A>CCA413144066HUWE1c.12738T>G (p.Asn4246Lys)
c.12954T>G (p.Asn4318Lys)
c.3421T>G
n.267T>G
c.12927T>G (p.Asn4309Lys)
c.13203T>G (p.Asn4401Lys)
c.13200T>G (p.Asn4400Lys)
c.13158T>G (p.Asn4386Lys)
c.13155T>G (p.Asn4385Lys)
c.13152T>G (p.Asn4384Lys)
c.13104T>G (p.Asn4368Lys)
c.12801T>G (p.Asn4267Lys)
c.13335T>G (p.Asn4445Lys)
c.13332T>G (p.Asn4444Lys)
c.13314T>G (p.Asn4438Lys)
c.13290T>G (p.Asn4430Lys)
c.13287T>G (p.Asn4429Lys)
c.13284T>G (p.Asn4428Lys)
c.13236T>G (p.Asn4412Lys)
c.13224T>G (p.Asn4408Lys)
c.13086T>G (p.Asn4362Lys)
c.12933T>G (p.Asn4311Lys)
Xg.53534075A>GCA516418667HUWE1c.12738T>C (p.Asn4246=)
c.12954T>C (p.Asn4318=)
c.3421T>C
n.267T>C
c.12927T>C (p.Asn4309=)
c.13203T>C (p.Asn4401=)
c.13200T>C (p.Asn4400=)
c.13158T>C (p.Asn4386=)
c.13155T>C (p.Asn4385=)
c.13152T>C (p.Asn4384=)
c.13104T>C (p.Asn4368=)
c.12801T>C (p.Asn4267=)
c.13335T>C (p.Asn4445=)
c.13332T>C (p.Asn4444=)
c.13314T>C (p.Asn4438=)
c.13290T>C (p.Asn4430=)
c.13287T>C (p.Asn4429=)
c.13284T>C (p.Asn4428=)
c.13236T>C (p.Asn4412=)
c.13224T>C (p.Asn4408=)
c.13086T>C (p.Asn4362=)
c.12933T>C (p.Asn4311=)
Xg.53534075A>TCA413144068HUWE1c.12738T>A (p.Asn4246Lys)
c.12954T>A (p.Asn4318Lys)
c.3421T>A
n.267T>A
c.12927T>A (p.Asn4309Lys)
c.13203T>A (p.Asn4401Lys)
c.13200T>A (p.Asn4400Lys)
c.13158T>A (p.Asn4386Lys)
c.13155T>A (p.Asn4385Lys)
c.13152T>A (p.Asn4384Lys)
c.13104T>A (p.Asn4368Lys)
c.12801T>A (p.Asn4267Lys)
c.13335T>A (p.Asn4445Lys)
c.13332T>A (p.Asn4444Lys)
c.13314T>A (p.Asn4438Lys)
c.13290T>A (p.Asn4430Lys)
c.13287T>A (p.Asn4429Lys)
c.13284T>A (p.Asn4428Lys)
c.13236T>A (p.Asn4412Lys)
c.13224T>A (p.Asn4408Lys)
c.13086T>A (p.Asn4362Lys)
c.12933T>A (p.Asn4311Lys)
Xg.53534076T>ACA413144079HUWE1c.12737A>T (p.Asn4246Ile)
c.12953A>T (p.Asn4318Ile)
c.3420A>T
n.266A>T
c.12926A>T (p.Asn4309Ile)
c.13202A>T (p.Asn4401Ile)
c.13199A>T (p.Asn4400Ile)
c.13157A>T (p.Asn4386Ile)
c.13154A>T (p.Asn4385Ile)
c.13151A>T (p.Asn4384Ile)
c.13103A>T (p.Asn4368Ile)
c.12800A>T (p.Asn4267Ile)
c.13334A>T (p.Asn4445Ile)
c.13331A>T (p.Asn4444Ile)
c.13313A>T (p.Asn4438Ile)
c.13289A>T (p.Asn4430Ile)
c.13286A>T (p.Asn4429Ile)
c.13283A>T (p.Asn4428Ile)
c.13235A>T (p.Asn4412Ile)
c.13223A>T (p.Asn4408Ile)
c.13085A>T (p.Asn4362Ile)
c.12932A>T (p.Asn4311Ile)
Xg.53534076T>CCA413144087HUWE1c.12737A>G (p.Asn4246Ser)
c.12953A>G (p.Asn4318Ser)
c.3420A>G
n.266A>G
c.12926A>G (p.Asn4309Ser)
c.13202A>G (p.Asn4401Ser)
c.13199A>G (p.Asn4400Ser)
c.13157A>G (p.Asn4386Ser)
c.13154A>G (p.Asn4385Ser)
c.13151A>G (p.Asn4384Ser)
c.13103A>G (p.Asn4368Ser)
c.12800A>G (p.Asn4267Ser)
c.13334A>G (p.Asn4445Ser)
c.13331A>G (p.Asn4444Ser)
c.13313A>G (p.Asn4438Ser)
c.13289A>G (p.Asn4430Ser)
c.13286A>G (p.Asn4429Ser)
c.13283A>G (p.Asn4428Ser)
c.13235A>G (p.Asn4412Ser)
c.13223A>G (p.Asn4408Ser)
c.13085A>G (p.Asn4362Ser)
c.12932A>G (p.Asn4311Ser)
Xg.53534076T>GCA413144082HUWE1c.12737A>C (p.Asn4246Thr)
c.12953A>C (p.Asn4318Thr)
c.3420A>C
n.266A>C
c.12926A>C (p.Asn4309Thr)
c.13202A>C (p.Asn4401Thr)
c.13199A>C (p.Asn4400Thr)
c.13157A>C (p.Asn4386Thr)
c.13154A>C (p.Asn4385Thr)
c.13151A>C (p.Asn4384Thr)
c.13103A>C (p.Asn4368Thr)
c.12800A>C (p.Asn4267Thr)
c.13334A>C (p.Asn4445Thr)
c.13331A>C (p.Asn4444Thr)
c.13313A>C (p.Asn4438Thr)
c.13289A>C (p.Asn4430Thr)
c.13286A>C (p.Asn4429Thr)
c.13283A>C (p.Asn4428Thr)
c.13235A>C (p.Asn4412Thr)
c.13223A>C (p.Asn4408Thr)
c.13085A>C (p.Asn4362Thr)
c.12932A>C (p.Asn4311Thr)
Xg.53534077T>ACA413144095HUWE1c.12736A>T (p.Asn4246Tyr)
c.12952A>T (p.Asn4318Tyr)
c.3419A>T
n.265A>T
c.12925A>T (p.Asn4309Tyr)
c.13201A>T (p.Asn4401Tyr)
c.13198A>T (p.Asn4400Tyr)
c.13156A>T (p.Asn4386Tyr)
c.13153A>T (p.Asn4385Tyr)
c.13150A>T (p.Asn4384Tyr)
c.13102A>T (p.Asn4368Tyr)
c.12799A>T (p.Asn4267Tyr)
c.13333A>T (p.Asn4445Tyr)
c.13330A>T (p.Asn4444Tyr)
c.13312A>T (p.Asn4438Tyr)
c.13288A>T (p.Asn4430Tyr)
c.13285A>T (p.Asn4429Tyr)
c.13282A>T (p.Asn4428Tyr)
c.13234A>T (p.Asn4412Tyr)
c.13222A>T (p.Asn4408Tyr)
c.13084A>T (p.Asn4362Tyr)
c.12931A>T (p.Asn4311Tyr)
Xg.53534077T>CCA413144102HUWE1c.12736A>G (p.Asn4246Asp)
c.12952A>G (p.Asn4318Asp)
c.3419A>G
n.265A>G
c.12925A>G (p.Asn4309Asp)
c.13201A>G (p.Asn4401Asp)
c.13198A>G (p.Asn4400Asp)
c.13156A>G (p.Asn4386Asp)
c.13153A>G (p.Asn4385Asp)
c.13150A>G (p.Asn4384Asp)
c.13102A>G (p.Asn4368Asp)
c.12799A>G (p.Asn4267Asp)
c.13333A>G (p.Asn4445Asp)
c.13330A>G (p.Asn4444Asp)
c.13312A>G (p.Asn4438Asp)
c.13288A>G (p.Asn4430Asp)
c.13285A>G (p.Asn4429Asp)
c.13282A>G (p.Asn4428Asp)
c.13234A>G (p.Asn4412Asp)
c.13222A>G (p.Asn4408Asp)
c.13084A>G (p.Asn4362Asp)
c.12931A>G (p.Asn4311Asp)
Xg.53534077T>GCA413144099HUWE1c.12736A>C (p.Asn4246His)
c.12952A>C (p.Asn4318His)
c.3419A>C
n.265A>C
c.12925A>C (p.Asn4309His)
c.13201A>C (p.Asn4401His)
c.13198A>C (p.Asn4400His)
c.13156A>C (p.Asn4386His)
c.13153A>C (p.Asn4385His)
c.13150A>C (p.Asn4384His)
c.13102A>C (p.Asn4368His)
c.12799A>C (p.Asn4267His)
c.13333A>C (p.Asn4445His)
c.13330A>C (p.Asn4444His)
c.13312A>C (p.Asn4438His)
c.13288A>C (p.Asn4430His)
c.13285A>C (p.Asn4429His)
c.13282A>C (p.Asn4428His)
c.13234A>C (p.Asn4412His)
c.13222A>C (p.Asn4408His)
c.13084A>C (p.Asn4362His)
c.12931A>C (p.Asn4311His)
Xg.53534078C>ACA413144105HUWE1c.12735G>T (p.Met4245Ile)
c.12951G>T (p.Met4317Ile)
c.3418G>T
n.264G>T
c.12924G>T (p.Met4308Ile)
c.13200G>T (p.Met4400Ile)
c.13197G>T (p.Met4399Ile)
c.13155G>T (p.Met4385Ile)
c.13152G>T (p.Met4384Ile)
c.13149G>T (p.Met4383Ile)
c.13101G>T (p.Met4367Ile)
c.12798G>T (p.Met4266Ile)
c.13332G>T (p.Met4444Ile)
c.13329G>T (p.Met4443Ile)
c.13311G>T (p.Met4437Ile)
c.13287G>T (p.Met4429Ile)
c.13284G>T (p.Met4428Ile)
c.13281G>T (p.Met4427Ile)
c.13233G>T (p.Met4411Ile)
c.13221G>T (p.Met4407Ile)
c.13083G>T (p.Met4361Ile)
c.12930G>T (p.Met4310Ile)
Xg.53534078C>GCA413144108HUWE1c.12735G>C (p.Met4245Ile)
c.12951G>C (p.Met4317Ile)
c.3418G>C
n.264G>C
c.12924G>C (p.Met4308Ile)
c.13200G>C (p.Met4400Ile)
c.13197G>C (p.Met4399Ile)
c.13155G>C (p.Met4385Ile)
c.13152G>C (p.Met4384Ile)
c.13149G>C (p.Met4383Ile)
c.13101G>C (p.Met4367Ile)
c.12798G>C (p.Met4266Ile)
c.13332G>C (p.Met4444Ile)
c.13329G>C (p.Met4443Ile)
c.13311G>C (p.Met4437Ile)
c.13287G>C (p.Met4429Ile)
c.13284G>C (p.Met4428Ile)
c.13281G>C (p.Met4427Ile)
c.13233G>C (p.Met4411Ile)
c.13221G>C (p.Met4407Ile)
c.13083G>C (p.Met4361Ile)
c.12930G>C (p.Met4310Ile)
 ClinVar dbSNP
Xg.53534078C>TCA413144110HUWE1c.12735G>A (p.Met4245Ile)
c.12951G>A (p.Met4317Ile)
c.3418G>A
n.264G>A
c.12924G>A (p.Met4308Ile)
c.13200G>A (p.Met4400Ile)
c.13197G>A (p.Met4399Ile)
c.13155G>A (p.Met4385Ile)
c.13152G>A (p.Met4384Ile)
c.13149G>A (p.Met4383Ile)
c.13101G>A (p.Met4367Ile)
c.12798G>A (p.Met4266Ile)
c.13332G>A (p.Met4444Ile)
c.13329G>A (p.Met4443Ile)
c.13311G>A (p.Met4437Ile)
c.13287G>A (p.Met4429Ile)
c.13284G>A (p.Met4428Ile)
c.13281G>A (p.Met4427Ile)
c.13233G>A (p.Met4411Ile)
c.13221G>A (p.Met4407Ile)
c.13083G>A (p.Met4361Ile)
c.12930G>A (p.Met4310Ile)
Xg.53534079A>CCA413144116HUWE1c.12734T>G (p.Met4245Arg)
c.12950T>G (p.Met4317Arg)
c.3417T>G
n.263T>G
c.12923T>G (p.Met4308Arg)
c.13199T>G (p.Met4400Arg)
c.13196T>G (p.Met4399Arg)
c.13154T>G (p.Met4385Arg)
c.13151T>G (p.Met4384Arg)
c.13148T>G (p.Met4383Arg)
c.13100T>G (p.Met4367Arg)
c.12797T>G (p.Met4266Arg)
c.13331T>G (p.Met4444Arg)
c.13328T>G (p.Met4443Arg)
c.13310T>G (p.Met4437Arg)
c.13286T>G (p.Met4429Arg)
c.13283T>G (p.Met4428Arg)
c.13280T>G (p.Met4427Arg)
c.13232T>G (p.Met4411Arg)
c.13220T>G (p.Met4407Arg)
c.13082T>G (p.Met4361Arg)
c.12929T>G (p.Met4310Arg)
Xg.53534079A>GCA413144132HUWE1c.12734T>C (p.Met4245Thr)
c.12950T>C (p.Met4317Thr)
c.3417T>C
n.263T>C
c.12923T>C (p.Met4308Thr)
c.13199T>C (p.Met4400Thr)
c.13196T>C (p.Met4399Thr)
c.13154T>C (p.Met4385Thr)
c.13151T>C (p.Met4384Thr)
c.13148T>C (p.Met4383Thr)
c.13100T>C (p.Met4367Thr)
c.12797T>C (p.Met4266Thr)
c.13331T>C (p.Met4444Thr)
c.13328T>C (p.Met4443Thr)
c.13310T>C (p.Met4437Thr)
c.13286T>C (p.Met4429Thr)
c.13283T>C (p.Met4428Thr)
c.13280T>C (p.Met4427Thr)
c.13232T>C (p.Met4411Thr)
c.13220T>C (p.Met4407Thr)
c.13082T>C (p.Met4361Thr)
c.12929T>C (p.Met4310Thr)
Xg.53534079A>TCA413144134HUWE1c.12734T>A (p.Met4245Lys)
c.12950T>A (p.Met4317Lys)
c.3417T>A
n.263T>A
c.12923T>A (p.Met4308Lys)
c.13199T>A (p.Met4400Lys)
c.13196T>A (p.Met4399Lys)
c.13154T>A (p.Met4385Lys)
c.13151T>A (p.Met4384Lys)
c.13148T>A (p.Met4383Lys)
c.13100T>A (p.Met4367Lys)
c.12797T>A (p.Met4266Lys)
c.13331T>A (p.Met4444Lys)
c.13328T>A (p.Met4443Lys)
c.13310T>A (p.Met4437Lys)
c.13286T>A (p.Met4429Lys)
c.13283T>A (p.Met4428Lys)
c.13280T>A (p.Met4427Lys)
c.13232T>A (p.Met4411Lys)
c.13220T>A (p.Met4407Lys)
c.13082T>A (p.Met4361Lys)
c.12929T>A (p.Met4310Lys)

Number of alleles fetched