Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144403882T>CCA1898416ZEB2c.*656+34A>G (n.*656+34A>G)
c.30+34A>G (n.30+34A>G)
c.807+34A>G (n.807+34A>G)
n.776+34A>G
c.471+34A>G (n.471+34A>G)
c.*524+34A>G (n.*524+34A>G)
n.907+34A>G
c.-133-5032A>G (n.-133-5032A>G)
c.804+34A>G (n.804+34A>G)
c.891+34A>G (n.891+34A>G)
c.546+34A>G (n.546+34A>G)
c.894+34A>G (n.894+34A>G)
c.792+34A>G (n.792+34A>G)
c.735+34A>G (n.735+34A>G)
c.798+34A>G (n.798+34A>G)
c.786+34A>G (n.786+34A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144403882T=CA1294887148ZEB2c.*656+34A= (n.*656+34A=)
c.30+34A= (n.30+34A=)
c.807+34A= (n.807+34A=)
n.776+34A=
c.471+34A= (n.471+34A=)
c.*524+34A= (n.*524+34A=)
n.907+34A=
c.-133-5032A= (n.-133-5032A=)
c.804+34A= (n.804+34A=)
c.891+34A= (n.891+34A=)
c.546+34A= (n.546+34A=)
c.894+34A= (n.894+34A=)
c.792+34A= (n.792+34A=)
c.735+34A= (n.735+34A=)
c.798+34A= (n.798+34A=)
c.786+34A= (n.786+34A=)
2g.144403883A>GCA2661360191ZEB2c.*656+33T>C (n.*656+33T>C)
c.30+33T>C (n.30+33T>C)
c.807+33T>C (n.807+33T>C)
n.776+33T>C
c.471+33T>C (n.471+33T>C)
c.*524+33T>C (n.*524+33T>C)
n.907+33T>C
c.-133-5033T>C (n.-133-5033T>C)
c.804+33T>C (n.804+33T>C)
c.891+33T>C (n.891+33T>C)
c.546+33T>C (n.546+33T>C)
c.894+33T>C (n.894+33T>C)
c.792+33T>C (n.792+33T>C)
c.735+33T>C (n.735+33T>C)
c.798+33T>C (n.798+33T>C)
c.786+33T>C (n.786+33T>C)
 gnomAD v4
2g.144403884T>CCA537029235ZEB2c.*656+32A>G (n.*656+32A>G)
c.30+32A>G (n.30+32A>G)
c.807+32A>G (n.807+32A>G)
n.776+32A>G
c.471+32A>G (n.471+32A>G)
c.*524+32A>G (n.*524+32A>G)
n.907+32A>G
c.-133-5034A>G (n.-133-5034A>G)
c.804+32A>G (n.804+32A>G)
c.891+32A>G (n.891+32A>G)
c.546+32A>G (n.546+32A>G)
c.894+32A>G (n.894+32A>G)
c.792+32A>G (n.792+32A>G)
c.735+32A>G (n.735+32A>G)
c.798+32A>G (n.798+32A>G)
c.786+32A>G (n.786+32A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.144403884T=CA1294887149ZEB2c.*656+32A= (n.*656+32A=)
c.30+32A= (n.30+32A=)
c.807+32A= (n.807+32A=)
n.776+32A=
c.471+32A= (n.471+32A=)
c.*524+32A= (n.*524+32A=)
n.907+32A=
c.-133-5034A= (n.-133-5034A=)
c.804+32A= (n.804+32A=)
c.891+32A= (n.891+32A=)
c.546+32A= (n.546+32A=)
c.894+32A= (n.894+32A=)
c.792+32A= (n.792+32A=)
c.735+32A= (n.735+32A=)
c.798+32A= (n.798+32A=)
c.786+32A= (n.786+32A=)
2g.144403885A>CCA2661360192ZEB2c.*656+31T>G (n.*656+31T>G)
c.30+31T>G (n.30+31T>G)
c.807+31T>G (n.807+31T>G)
n.776+31T>G
c.471+31T>G (n.471+31T>G)
c.*524+31T>G (n.*524+31T>G)
n.907+31T>G
c.-133-5035T>G (n.-133-5035T>G)
c.804+31T>G (n.804+31T>G)
c.891+31T>G (n.891+31T>G)
c.546+31T>G (n.546+31T>G)
c.894+31T>G (n.894+31T>G)
c.792+31T>G (n.792+31T>G)
c.735+31T>G (n.735+31T>G)
c.798+31T>G (n.798+31T>G)
c.786+31T>G (n.786+31T>G)
 gnomAD v4
2g.144403889A=CA1294887150ZEB2c.*656+27T= (n.*656+27T=)
c.30+27T= (n.30+27T=)
c.807+27T= (n.807+27T=)
n.776+27T=
c.471+27T= (n.471+27T=)
c.*524+27T= (n.*524+27T=)
n.907+27T=
c.-133-5039T= (n.-133-5039T=)
c.804+27T= (n.804+27T=)
c.891+27T= (n.891+27T=)
c.546+27T= (n.546+27T=)
c.894+27T= (n.894+27T=)
c.792+27T= (n.792+27T=)
c.735+27T= (n.735+27T=)
c.798+27T= (n.798+27T=)
c.786+27T= (n.786+27T=)
2g.144403889A>GCA537029236ZEB2c.*656+27T>C (n.*656+27T>C)
c.30+27T>C (n.30+27T>C)
c.807+27T>C (n.807+27T>C)
n.776+27T>C
c.471+27T>C (n.471+27T>C)
c.*524+27T>C (n.*524+27T>C)
n.907+27T>C
c.-133-5039T>C (n.-133-5039T>C)
c.804+27T>C (n.804+27T>C)
c.891+27T>C (n.891+27T>C)
c.546+27T>C (n.546+27T>C)
c.894+27T>C (n.894+27T>C)
c.792+27T>C (n.792+27T>C)
c.735+27T>C (n.735+27T>C)
c.798+27T>C (n.798+27T>C)
c.786+27T>C (n.786+27T>C)
 dbSNP gnomAD v2
2g.144403890G>ACA2661360193ZEB2c.*656+26C>T (n.*656+26C>T)
c.30+26C>T (n.30+26C>T)
c.807+26C>T (n.807+26C>T)
n.776+26C>T
c.471+26C>T (n.471+26C>T)
c.*524+26C>T (n.*524+26C>T)
n.907+26C>T
c.-133-5040C>T (n.-133-5040C>T)
c.804+26C>T (n.804+26C>T)
c.891+26C>T (n.891+26C>T)
c.546+26C>T (n.546+26C>T)
c.894+26C>T (n.894+26C>T)
c.792+26C>T (n.792+26C>T)
c.735+26C>T (n.735+26C>T)
c.798+26C>T (n.798+26C>T)
c.786+26C>T (n.786+26C>T)
 gnomAD v4
2g.144403890G=CA1294887151ZEB2c.*656+26C= (n.*656+26C=)
c.30+26C= (n.30+26C=)
c.807+26C= (n.807+26C=)
n.776+26C=
c.471+26C= (n.471+26C=)
c.*524+26C= (n.*524+26C=)
n.907+26C=
c.-133-5040C= (n.-133-5040C=)
c.804+26C= (n.804+26C=)
c.891+26C= (n.891+26C=)
c.546+26C= (n.546+26C=)
c.894+26C= (n.894+26C=)
c.792+26C= (n.792+26C=)
c.735+26C= (n.735+26C=)
c.798+26C= (n.798+26C=)
c.786+26C= (n.786+26C=)
2g.144403890G>TCA537029237ZEB2c.*656+26C>A (n.*656+26C>A)
c.30+26C>A (n.30+26C>A)
c.807+26C>A (n.807+26C>A)
n.776+26C>A
c.471+26C>A (n.471+26C>A)
c.*524+26C>A (n.*524+26C>A)
n.907+26C>A
c.-133-5040C>A (n.-133-5040C>A)
c.804+26C>A (n.804+26C>A)
c.891+26C>A (n.891+26C>A)
c.546+26C>A (n.546+26C>A)
c.894+26C>A (n.894+26C>A)
c.792+26C>A (n.792+26C>A)
c.735+26C>A (n.735+26C>A)
c.798+26C>A (n.798+26C>A)
c.786+26C>A (n.786+26C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.144403891A=CA1294887152ZEB2c.*656+25T= (n.*656+25T=)
c.30+25T= (n.30+25T=)
c.807+25T= (n.807+25T=)
n.776+25T=
c.471+25T= (n.471+25T=)
c.*524+25T= (n.*524+25T=)
n.907+25T=
c.-133-5041T= (n.-133-5041T=)
c.804+25T= (n.804+25T=)
c.891+25T= (n.891+25T=)
c.546+25T= (n.546+25T=)
c.894+25T= (n.894+25T=)
c.792+25T= (n.792+25T=)
c.735+25T= (n.735+25T=)
c.798+25T= (n.798+25T=)
c.786+25T= (n.786+25T=)
2g.144403891A>TCA1898417ZEB2c.*656+25T>A (n.*656+25T>A)
c.30+25T>A (n.30+25T>A)
c.807+25T>A (n.807+25T>A)
n.776+25T>A
c.471+25T>A (n.471+25T>A)
c.*524+25T>A (n.*524+25T>A)
n.907+25T>A
c.-133-5041T>A (n.-133-5041T>A)
c.804+25T>A (n.804+25T>A)
c.891+25T>A (n.891+25T>A)
c.546+25T>A (n.546+25T>A)
c.894+25T>A (n.894+25T>A)
c.792+25T>A (n.792+25T>A)
c.735+25T>A (n.735+25T>A)
c.798+25T>A (n.798+25T>A)
c.786+25T>A (n.786+25T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144403892A=CA1294887153ZEB2c.*656+24T= (n.*656+24T=)
c.30+24T= (n.30+24T=)
c.807+24T= (n.807+24T=)
n.776+24T=
c.471+24T= (n.471+24T=)
c.*524+24T= (n.*524+24T=)
n.907+24T=
c.-133-5042T= (n.-133-5042T=)
c.804+24T= (n.804+24T=)
c.891+24T= (n.891+24T=)
c.546+24T= (n.546+24T=)
c.894+24T= (n.894+24T=)
c.792+24T= (n.792+24T=)
c.735+24T= (n.735+24T=)
c.798+24T= (n.798+24T=)
c.786+24T= (n.786+24T=)
2g.144403892A>GCA57561634ZEB2c.*656+24T>C (n.*656+24T>C)
c.30+24T>C (n.30+24T>C)
c.807+24T>C (n.807+24T>C)
n.776+24T>C
c.471+24T>C (n.471+24T>C)
c.*524+24T>C (n.*524+24T>C)
n.907+24T>C
c.-133-5042T>C (n.-133-5042T>C)
c.804+24T>C (n.804+24T>C)
c.891+24T>C (n.891+24T>C)
c.546+24T>C (n.546+24T>C)
c.894+24T>C (n.894+24T>C)
c.792+24T>C (n.792+24T>C)
c.735+24T>C (n.735+24T>C)
c.798+24T>C (n.798+24T>C)
c.786+24T>C (n.786+24T>C)
 dbSNP
2g.144403895C>ACA57561661ZEB2c.*656+21G>T (n.*656+21G>T)
c.30+21G>T (n.30+21G>T)
c.807+21G>T (n.807+21G>T)
n.776+21G>T
c.471+21G>T (n.471+21G>T)
c.*524+21G>T (n.*524+21G>T)
n.907+21G>T
c.-133-5045G>T (n.-133-5045G>T)
c.804+21G>T (n.804+21G>T)
c.891+21G>T (n.891+21G>T)
c.546+21G>T (n.546+21G>T)
c.894+21G>T (n.894+21G>T)
c.792+21G>T (n.792+21G>T)
c.735+21G>T (n.735+21G>T)
c.798+21G>T (n.798+21G>T)
c.786+21G>T (n.786+21G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144403895C=CA1294887154ZEB2c.*656+21G= (n.*656+21G=)
c.30+21G= (n.30+21G=)
c.807+21G= (n.807+21G=)
n.776+21G=
c.471+21G= (n.471+21G=)
c.*524+21G= (n.*524+21G=)
n.907+21G=
c.-133-5045G= (n.-133-5045G=)
c.804+21G= (n.804+21G=)
c.891+21G= (n.891+21G=)
c.546+21G= (n.546+21G=)
c.894+21G= (n.894+21G=)
c.792+21G= (n.792+21G=)
c.735+21G= (n.735+21G=)
c.798+21G= (n.798+21G=)
c.786+21G= (n.786+21G=)
2g.144403895C>TCA57561640ZEB2c.*656+21G>A (n.*656+21G>A)
c.30+21G>A (n.30+21G>A)
c.807+21G>A (n.807+21G>A)
n.776+21G>A
c.471+21G>A (n.471+21G>A)
c.*524+21G>A (n.*524+21G>A)
n.907+21G>A
c.-133-5045G>A (n.-133-5045G>A)
c.804+21G>A (n.804+21G>A)
c.891+21G>A (n.891+21G>A)
c.546+21G>A (n.546+21G>A)
c.894+21G>A (n.894+21G>A)
c.792+21G>A (n.792+21G>A)
c.735+21G>A (n.735+21G>A)
c.798+21G>A (n.798+21G>A)
c.786+21G>A (n.786+21G>A)
 dbSNP gnomAD v4
2g.144403896A>TCA2661360194ZEB2c.*656+20T>A (n.*656+20T>A)
c.30+20T>A (n.30+20T>A)
c.807+20T>A (n.807+20T>A)
n.776+20T>A
c.471+20T>A (n.471+20T>A)
c.*524+20T>A (n.*524+20T>A)
n.907+20T>A
c.-133-5046T>A (n.-133-5046T>A)
c.804+20T>A (n.804+20T>A)
c.891+20T>A (n.891+20T>A)
c.546+20T>A (n.546+20T>A)
c.894+20T>A (n.894+20T>A)
c.792+20T>A (n.792+20T>A)
c.735+20T>A (n.735+20T>A)
c.798+20T>A (n.798+20T>A)
c.786+20T>A (n.786+20T>A)
 ClinVar gnomAD v4
2g.144403900A>GCA2661360195ZEB2c.*656+16T>C (n.*656+16T>C)
c.30+16T>C (n.30+16T>C)
c.807+16T>C (n.807+16T>C)
n.776+16T>C
c.471+16T>C (n.471+16T>C)
c.*524+16T>C (n.*524+16T>C)
n.907+16T>C
c.-133-5050T>C (n.-133-5050T>C)
c.804+16T>C (n.804+16T>C)
c.891+16T>C (n.891+16T>C)
c.546+16T>C (n.546+16T>C)
c.894+16T>C (n.894+16T>C)
c.792+16T>C (n.792+16T>C)
c.735+16T>C (n.735+16T>C)
c.798+16T>C (n.798+16T>C)
c.786+16T>C (n.786+16T>C)
 gnomAD v4
2g.144403903A>GCA2566854595ZEB2c.*656+13T>C (n.*656+13T>C)
c.30+13T>C (n.30+13T>C)
c.807+13T>C (n.807+13T>C)
n.776+13T>C
c.471+13T>C (n.471+13T>C)
c.*524+13T>C (n.*524+13T>C)
n.907+13T>C
c.-133-5053T>C (n.-133-5053T>C)
c.804+13T>C (n.804+13T>C)
c.891+13T>C (n.891+13T>C)
c.546+13T>C (n.546+13T>C)
c.894+13T>C (n.894+13T>C)
c.792+13T>C (n.792+13T>C)
c.735+13T>C (n.735+13T>C)
c.798+13T>C (n.798+13T>C)
c.786+13T>C (n.786+13T>C)
2g.144403904C>TCA2661360196ZEB2c.*656+12G>A (n.*656+12G>A)
c.30+12G>A (n.30+12G>A)
c.807+12G>A (n.807+12G>A)
n.776+12G>A
c.471+12G>A (n.471+12G>A)
c.*524+12G>A (n.*524+12G>A)
n.907+12G>A
c.-133-5054G>A (n.-133-5054G>A)
c.804+12G>A (n.804+12G>A)
c.891+12G>A (n.891+12G>A)
c.546+12G>A (n.546+12G>A)
c.894+12G>A (n.894+12G>A)
c.792+12G>A (n.792+12G>A)
c.735+12G>A (n.735+12G>A)
c.798+12G>A (n.798+12G>A)
c.786+12G>A (n.786+12G>A)
 gnomAD v4
2g.144403905C=CA1294887155ZEB2c.*656+11G= (n.*656+11G=)
c.30+11G= (n.30+11G=)
c.807+11G= (n.807+11G=)
n.776+11G=
c.471+11G= (n.471+11G=)
c.*524+11G= (n.*524+11G=)
n.907+11G=
c.-133-5055G= (n.-133-5055G=)
c.804+11G= (n.804+11G=)
c.891+11G= (n.891+11G=)
c.546+11G= (n.546+11G=)
c.894+11G= (n.894+11G=)
c.792+11G= (n.792+11G=)
c.735+11G= (n.735+11G=)
c.798+11G= (n.798+11G=)
c.786+11G= (n.786+11G=)
2g.144403905C>TCA57561665ZEB2c.*656+11G>A (n.*656+11G>A)
c.30+11G>A (n.30+11G>A)
c.807+11G>A (n.807+11G>A)
n.776+11G>A
c.471+11G>A (n.471+11G>A)
c.*524+11G>A (n.*524+11G>A)
n.907+11G>A
c.-133-5055G>A (n.-133-5055G>A)
c.804+11G>A (n.804+11G>A)
c.891+11G>A (n.891+11G>A)
c.546+11G>A (n.546+11G>A)
c.894+11G>A (n.894+11G>A)
c.792+11G>A (n.792+11G>A)
c.735+11G>A (n.735+11G>A)
c.798+11G>A (n.798+11G>A)
c.786+11G>A (n.786+11G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144403907T>ACA1294887156ZEB2c.*656+9A>T (n.*656+9A>T)
c.30+9A>T (n.30+9A>T)
c.807+9A>T (n.807+9A>T)
n.776+9A>T
c.471+9A>T (n.471+9A>T)
c.*524+9A>T (n.*524+9A>T)
n.907+9A>T
c.-133-5057A>T (n.-133-5057A>T)
c.804+9A>T (n.804+9A>T)
c.891+9A>T (n.891+9A>T)
c.546+9A>T (n.546+9A>T)
c.894+9A>T (n.894+9A>T)
c.792+9A>T (n.792+9A>T)
c.735+9A>T (n.735+9A>T)
c.798+9A>T (n.798+9A>T)
c.786+9A>T (n.786+9A>T)
 dbSNP
2g.144403907T>CCA2661360197ZEB2c.*656+9A>G (n.*656+9A>G)
c.30+9A>G (n.30+9A>G)
c.807+9A>G (n.807+9A>G)
n.776+9A>G
c.471+9A>G (n.471+9A>G)
c.*524+9A>G (n.*524+9A>G)
n.907+9A>G
c.-133-5057A>G (n.-133-5057A>G)
c.804+9A>G (n.804+9A>G)
c.891+9A>G (n.891+9A>G)
c.546+9A>G (n.546+9A>G)
c.894+9A>G (n.894+9A>G)
c.792+9A>G (n.792+9A>G)
c.735+9A>G (n.735+9A>G)
c.798+9A>G (n.798+9A>G)
c.786+9A>G (n.786+9A>G)
 gnomAD v4
2g.144403907T>GCA2547270870ZEB2c.*656+9A>C (n.*656+9A>C)
c.30+9A>C (n.30+9A>C)
c.807+9A>C (n.807+9A>C)
n.776+9A>C
c.471+9A>C (n.471+9A>C)
c.*524+9A>C (n.*524+9A>C)
n.907+9A>C
c.-133-5057A>C (n.-133-5057A>C)
c.804+9A>C (n.804+9A>C)
c.891+9A>C (n.891+9A>C)
c.546+9A>C (n.546+9A>C)
c.894+9A>C (n.894+9A>C)
c.792+9A>C (n.792+9A>C)
c.735+9A>C (n.735+9A>C)
c.798+9A>C (n.798+9A>C)
c.786+9A>C (n.786+9A>C)
2g.144403907T=CA1294887157ZEB2c.*656+9A= (n.*656+9A=)
c.30+9A= (n.30+9A=)
c.807+9A= (n.807+9A=)
n.776+9A=
c.471+9A= (n.471+9A=)
c.*524+9A= (n.*524+9A=)
n.907+9A=
c.-133-5057A= (n.-133-5057A=)
c.804+9A= (n.804+9A=)
c.891+9A= (n.891+9A=)
c.546+9A= (n.546+9A=)
c.894+9A= (n.894+9A=)
c.792+9A= (n.792+9A=)
c.735+9A= (n.735+9A=)
c.798+9A= (n.798+9A=)
c.786+9A= (n.786+9A=)
2g.144403907_144403908delinsTCCA1294887158ZEB2c.*656+8_*656+9delinsGA (n.*656+8_*656+9delinsGA)
c.30+8_30+9delinsGA (n.30+8_30+9delinsGA)
c.807+8_807+9delinsGA (n.807+8_807+9delinsGA)
n.776+8_776+9delinsGA
c.471+8_471+9delinsGA (n.471+8_471+9delinsGA)
c.*524+8_*524+9delinsGA (n.*524+8_*524+9delinsGA)
n.907+8_907+9delinsGA
c.-133-5058_-133-5057delinsGA (n.-133-5058_-133-5057delinsGA)
c.804+8_804+9delinsGA (n.804+8_804+9delinsGA)
c.891+8_891+9delinsGA (n.891+8_891+9delinsGA)
c.546+8_546+9delinsGA (n.546+8_546+9delinsGA)
c.894+8_894+9delinsGA (n.894+8_894+9delinsGA)
c.792+8_792+9delinsGA (n.792+8_792+9delinsGA)
c.735+8_735+9delinsGA (n.735+8_735+9delinsGA)
c.798+8_798+9delinsGA (n.798+8_798+9delinsGA)
c.786+8_786+9delinsGA (n.786+8_786+9delinsGA)
2g.144403908C=CA1294887159ZEB2c.*656+8G= (n.*656+8G=)
c.30+8G= (n.30+8G=)
c.807+8G= (n.807+8G=)
n.776+8G=
c.471+8G= (n.471+8G=)
c.*524+8G= (n.*524+8G=)
n.907+8G=
c.-133-5058G= (n.-133-5058G=)
c.804+8G= (n.804+8G=)
c.891+8G= (n.891+8G=)
c.546+8G= (n.546+8G=)
c.894+8G= (n.894+8G=)
c.792+8G= (n.792+8G=)
c.735+8G= (n.735+8G=)
c.798+8G= (n.798+8G=)
c.786+8G= (n.786+8G=)
2g.144403908C>GCA2661360198ZEB2c.*656+8G>C (n.*656+8G>C)
c.30+8G>C (n.30+8G>C)
c.807+8G>C (n.807+8G>C)
n.776+8G>C
c.471+8G>C (n.471+8G>C)
c.*524+8G>C (n.*524+8G>C)
n.907+8G>C
c.-133-5058G>C (n.-133-5058G>C)
c.804+8G>C (n.804+8G>C)
c.891+8G>C (n.891+8G>C)
c.546+8G>C (n.546+8G>C)
c.894+8G>C (n.894+8G>C)
c.792+8G>C (n.792+8G>C)
c.735+8G>C (n.735+8G>C)
c.798+8G>C (n.798+8G>C)
c.786+8G>C (n.786+8G>C)
 ClinVar gnomAD v4
2g.144403908C>TCA1898418ZEB2c.*656+8G>A (n.*656+8G>A)
c.30+8G>A (n.30+8G>A)
c.807+8G>A (n.807+8G>A)
n.776+8G>A
c.471+8G>A (n.471+8G>A)
c.*524+8G>A (n.*524+8G>A)
n.907+8G>A
c.-133-5058G>A (n.-133-5058G>A)
c.804+8G>A (n.804+8G>A)
c.891+8G>A (n.891+8G>A)
c.546+8G>A (n.546+8G>A)
c.894+8G>A (n.894+8G>A)
c.792+8G>A (n.792+8G>A)
c.735+8G>A (n.735+8G>A)
c.798+8G>A (n.798+8G>A)
c.786+8G>A (n.786+8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144403913dupCA537029238ZEB2c.*656+8dup (n.*656+8dup)
c.30+8dup (n.30+8dup)
c.807+8dup (n.807+8dup)
n.776+8dup
c.471+8dup (n.471+8dup)
c.*524+8dup (n.*524+8dup)
n.907+8dup
c.-133-5058dup (n.-133-5058dup)
c.804+8dup (n.804+8dup)
c.891+8dup (n.891+8dup)
c.546+8dup (n.546+8dup)
c.894+8dup (n.894+8dup)
c.792+8dup (n.792+8dup)
c.735+8dup (n.735+8dup)
c.798+8dup (n.798+8dup)
c.786+8dup (n.786+8dup)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144403913delCA429218419ZEB2c.*656+8del (n.*656+8del)
c.30+8del (n.30+8del)
c.807+8del (n.807+8del)
n.776+8del
c.471+8del (n.471+8del)
c.*524+8del (n.*524+8del)
n.907+8del
c.-133-5058del (n.-133-5058del)
c.804+8del (n.804+8del)
c.891+8del (n.891+8del)
c.546+8del (n.546+8del)
c.894+8del (n.894+8del)
c.792+8del (n.792+8del)
c.735+8del (n.735+8del)
c.798+8del (n.798+8del)
c.786+8del (n.786+8del)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.144403909C>ACA2577114254ZEB2c.*656+7G>T (n.*656+7G>T)
c.30+7G>T (n.30+7G>T)
c.807+7G>T (n.807+7G>T)
n.776+7G>T
c.471+7G>T (n.471+7G>T)
c.*524+7G>T (n.*524+7G>T)
n.907+7G>T
c.-133-5059G>T (n.-133-5059G>T)
c.804+7G>T (n.804+7G>T)
c.891+7G>T (n.891+7G>T)
c.546+7G>T (n.546+7G>T)
c.894+7G>T (n.894+7G>T)
c.792+7G>T (n.792+7G>T)
c.735+7G>T (n.735+7G>T)
c.798+7G>T (n.798+7G>T)
c.786+7G>T (n.786+7G>T)
 gnomAD v4
2g.144403910C>ACA2661360199ZEB2c.*656+6G>T (n.*656+6G>T)
c.30+6G>T (n.30+6G>T)
c.807+6G>T (n.807+6G>T)
n.776+6G>T
c.471+6G>T (n.471+6G>T)
c.*524+6G>T (n.*524+6G>T)
n.907+6G>T
c.-133-5060G>T (n.-133-5060G>T)
c.804+6G>T (n.804+6G>T)
c.891+6G>T (n.891+6G>T)
c.546+6G>T (n.546+6G>T)
c.894+6G>T (n.894+6G>T)
c.792+6G>T (n.792+6G>T)
c.735+6G>T (n.735+6G>T)
c.798+6G>T (n.798+6G>T)
c.786+6G>T (n.786+6G>T)
 gnomAD v4
2g.144403910C>GCA2661360200ZEB2c.*656+6G>C (n.*656+6G>C)
c.30+6G>C (n.30+6G>C)
c.807+6G>C (n.807+6G>C)
n.776+6G>C
c.471+6G>C (n.471+6G>C)
c.*524+6G>C (n.*524+6G>C)
n.907+6G>C
c.-133-5060G>C (n.-133-5060G>C)
c.804+6G>C (n.804+6G>C)
c.891+6G>C (n.891+6G>C)
c.546+6G>C (n.546+6G>C)
c.894+6G>C (n.894+6G>C)
c.792+6G>C (n.792+6G>C)
c.735+6G>C (n.735+6G>C)
c.798+6G>C (n.798+6G>C)
c.786+6G>C (n.786+6G>C)
 gnomAD v4
2g.144403911C>TCA2577114255ZEB2c.*656+5G>A (n.*656+5G>A)
c.30+5G>A (n.30+5G>A)
c.807+5G>A (n.807+5G>A)
n.776+5G>A
c.471+5G>A (n.471+5G>A)
c.*524+5G>A (n.*524+5G>A)
n.907+5G>A
c.-133-5061G>A (n.-133-5061G>A)
c.804+5G>A (n.804+5G>A)
c.891+5G>A (n.891+5G>A)
c.546+5G>A (n.546+5G>A)
c.894+5G>A (n.894+5G>A)
c.792+5G>A (n.792+5G>A)
c.735+5G>A (n.735+5G>A)
c.798+5G>A (n.798+5G>A)
c.786+5G>A (n.786+5G>A)
 gnomAD v4
2g.144403912C>ACA2661360201ZEB2c.*656+4G>T (n.*656+4G>T)
c.30+4G>T (n.30+4G>T)
c.807+4G>T (n.807+4G>T)
n.776+4G>T
c.471+4G>T (n.471+4G>T)
c.*524+4G>T (n.*524+4G>T)
n.907+4G>T
c.-133-5062G>T (n.-133-5062G>T)
c.804+4G>T (n.804+4G>T)
c.891+4G>T (n.891+4G>T)
c.546+4G>T (n.546+4G>T)
c.894+4G>T (n.894+4G>T)
c.792+4G>T (n.792+4G>T)
c.735+4G>T (n.735+4G>T)
c.798+4G>T (n.798+4G>T)
c.786+4G>T (n.786+4G>T)
 gnomAD v4
2g.144403912C>TCA2661360202ZEB2c.*656+4G>A (n.*656+4G>A)
c.30+4G>A (n.30+4G>A)
c.807+4G>A (n.807+4G>A)
n.776+4G>A
c.471+4G>A (n.471+4G>A)
c.*524+4G>A (n.*524+4G>A)
n.907+4G>A
c.-133-5062G>A (n.-133-5062G>A)
c.804+4G>A (n.804+4G>A)
c.891+4G>A (n.891+4G>A)
c.546+4G>A (n.546+4G>A)
c.894+4G>A (n.894+4G>A)
c.792+4G>A (n.792+4G>A)
c.735+4G>A (n.735+4G>A)
c.798+4G>A (n.798+4G>A)
c.786+4G>A (n.786+4G>A)
 dbSNP gnomAD v4
2g.144403913C>ACA1898419ZEB2c.*656+3G>T (n.*656+3G>T)
c.30+3G>T (n.30+3G>T)
c.807+3G>T (n.807+3G>T)
n.776+3G>T
c.471+3G>T (n.471+3G>T)
c.*524+3G>T (n.*524+3G>T)
n.907+3G>T
c.-133-5063G>T (n.-133-5063G>T)
c.804+3G>T (n.804+3G>T)
c.891+3G>T (n.891+3G>T)
c.546+3G>T (n.546+3G>T)
c.894+3G>T (n.894+3G>T)
c.792+3G>T (n.792+3G>T)
c.735+3G>T (n.735+3G>T)
c.798+3G>T (n.798+3G>T)
c.786+3G>T (n.786+3G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.144403913C=CA1294887160ZEB2c.*656+3G= (n.*656+3G=)
c.30+3G= (n.30+3G=)
c.807+3G= (n.807+3G=)
n.776+3G=
c.471+3G= (n.471+3G=)
c.*524+3G= (n.*524+3G=)
n.907+3G=
c.-133-5063G= (n.-133-5063G=)
c.804+3G= (n.804+3G=)
c.891+3G= (n.891+3G=)
c.546+3G= (n.546+3G=)
c.894+3G= (n.894+3G=)
c.792+3G= (n.792+3G=)
c.735+3G= (n.735+3G=)
c.798+3G= (n.798+3G=)
c.786+3G= (n.786+3G=)
2g.144403913C>GCA148685ZEB2c.*656+3G>C (n.*656+3G>C)
c.30+3G>C (n.30+3G>C)
c.807+3G>C (n.807+3G>C)
n.776+3G>C
c.471+3G>C (n.471+3G>C)
c.*524+3G>C (n.*524+3G>C)
n.907+3G>C
c.-133-5063G>C (n.-133-5063G>C)
c.804+3G>C (n.804+3G>C)
c.891+3G>C (n.891+3G>C)
c.546+3G>C (n.546+3G>C)
c.894+3G>C (n.894+3G>C)
c.792+3G>C (n.792+3G>C)
c.735+3G>C (n.735+3G>C)
c.798+3G>C (n.798+3G>C)
c.786+3G>C (n.786+3G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144403913C>TCA537029239ZEB2c.*656+3G>A (n.*656+3G>A)
c.30+3G>A (n.30+3G>A)
c.807+3G>A (n.807+3G>A)
n.776+3G>A
c.471+3G>A (n.471+3G>A)
c.*524+3G>A (n.*524+3G>A)
n.907+3G>A
c.-133-5063G>A (n.-133-5063G>A)
c.804+3G>A (n.804+3G>A)
c.891+3G>A (n.891+3G>A)
c.546+3G>A (n.546+3G>A)
c.894+3G>A (n.894+3G>A)
c.792+3G>A (n.792+3G>A)
c.735+3G>A (n.735+3G>A)
c.798+3G>A (n.798+3G>A)
c.786+3G>A (n.786+3G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144403914A>CCA348714505ZEB2c.*656+2T>G (n.*656+2T>G)
c.30+2T>G (n.30+2T>G)
c.807+2T>G (n.807+2T>G)
n.776+2T>G
c.471+2T>G (n.471+2T>G)
c.*524+2T>G (n.*524+2T>G)
n.907+2T>G
c.-133-5064T>G (n.-133-5064T>G)
c.804+2T>G (n.804+2T>G)
c.891+2T>G (n.891+2T>G)
c.546+2T>G (n.546+2T>G)
c.894+2T>G (n.894+2T>G)
c.792+2T>G (n.792+2T>G)
c.735+2T>G (n.735+2T>G)
c.798+2T>G (n.798+2T>G)
c.786+2T>G (n.786+2T>G)
2g.144403914A>GCA348714507ZEB2c.*656+2T>C (n.*656+2T>C)
c.30+2T>C (n.30+2T>C)
c.807+2T>C (n.807+2T>C)
n.776+2T>C
c.471+2T>C (n.471+2T>C)
c.*524+2T>C (n.*524+2T>C)
n.907+2T>C
c.-133-5064T>C (n.-133-5064T>C)
c.804+2T>C (n.804+2T>C)
c.891+2T>C (n.891+2T>C)
c.546+2T>C (n.546+2T>C)
c.894+2T>C (n.894+2T>C)
c.792+2T>C (n.792+2T>C)
c.735+2T>C (n.735+2T>C)
c.798+2T>C (n.798+2T>C)
c.786+2T>C (n.786+2T>C)
2g.144403914A>TCA348714508ZEB2c.*656+2T>A (n.*656+2T>A)
c.30+2T>A (n.30+2T>A)
c.807+2T>A (n.807+2T>A)
n.776+2T>A
c.471+2T>A (n.471+2T>A)
c.*524+2T>A (n.*524+2T>A)
n.907+2T>A
c.-133-5064T>A (n.-133-5064T>A)
c.804+2T>A (n.804+2T>A)
c.891+2T>A (n.891+2T>A)
c.546+2T>A (n.546+2T>A)
c.894+2T>A (n.894+2T>A)
c.792+2T>A (n.792+2T>A)
c.735+2T>A (n.735+2T>A)
c.798+2T>A (n.798+2T>A)
c.786+2T>A (n.786+2T>A)
2g.144403915C>ACA348714513ZEB2c.*656+1G>T (n.*656+1G>T)
c.30+1G>T (n.30+1G>T)
c.807+1G>T (n.807+1G>T)
n.776+1G>T
c.471+1G>T (n.471+1G>T)
c.*524+1G>T (n.*524+1G>T)
n.907+1G>T
c.-133-5065G>T (n.-133-5065G>T)
c.804+1G>T (n.804+1G>T)
c.891+1G>T (n.891+1G>T)
c.546+1G>T (n.546+1G>T)
c.894+1G>T (n.894+1G>T)
c.792+1G>T (n.792+1G>T)
c.735+1G>T (n.735+1G>T)
c.798+1G>T (n.798+1G>T)
c.786+1G>T (n.786+1G>T)
2g.144403915C>GCA348714515ZEB2c.*656+1G>C (n.*656+1G>C)
c.30+1G>C (n.30+1G>C)
c.807+1G>C (n.807+1G>C)
n.776+1G>C
c.471+1G>C (n.471+1G>C)
c.*524+1G>C (n.*524+1G>C)
n.907+1G>C
c.-133-5065G>C (n.-133-5065G>C)
c.804+1G>C (n.804+1G>C)
c.891+1G>C (n.891+1G>C)
c.546+1G>C (n.546+1G>C)
c.894+1G>C (n.894+1G>C)
c.792+1G>C (n.792+1G>C)
c.735+1G>C (n.735+1G>C)
c.798+1G>C (n.798+1G>C)
c.786+1G>C (n.786+1G>C)
2g.144403915C>TCA348714511ZEB2c.*656+1G>A (n.*656+1G>A)
c.30+1G>A (n.30+1G>A)
c.807+1G>A (n.807+1G>A)
n.776+1G>A
c.471+1G>A (n.471+1G>A)
c.*524+1G>A (n.*524+1G>A)
n.907+1G>A
c.-133-5065G>A (n.-133-5065G>A)
c.804+1G>A (n.804+1G>A)
c.891+1G>A (n.891+1G>A)
c.546+1G>A (n.546+1G>A)
c.894+1G>A (n.894+1G>A)
c.792+1G>A (n.792+1G>A)
c.735+1G>A (n.735+1G>A)
c.798+1G>A (n.798+1G>A)
c.786+1G>A (n.786+1G>A)
2g.144403916C>ACA348714518ZEB2c.*656G>T (n.*656G>T)
c.30G>T (p.Gln10His)
c.807G>T (p.Gln269His)
n.776G>T
c.471G>T (p.Gln157His)
c.*524G>T (n.*524G>T)
n.907G>T
c.-133-5066G>T (n.-133-5066G>T)
c.804G>T (p.Gln268His)
c.891G>T (p.Gln297His)
c.546G>T (p.Gln182His)
c.894G>T (p.Gln298His)
c.792G>T (p.Gln264His)
c.735G>T (p.Gln245His)
c.798G>T (p.Gln266His)
c.786G>T (p.Gln262His)
2g.144403916C>GCA348714520ZEB2c.*656G>C (n.*656G>C)
c.30G>C (p.Gln10His)
c.807G>C (p.Gln269His)
n.776G>C
c.471G>C (p.Gln157His)
c.*524G>C (n.*524G>C)
n.907G>C
c.-133-5066G>C (n.-133-5066G>C)
c.804G>C (p.Gln268His)
c.891G>C (p.Gln297His)
c.546G>C (p.Gln182His)
c.894G>C (p.Gln298His)
c.792G>C (p.Gln264His)
c.735G>C (p.Gln245His)
c.798G>C (p.Gln266His)
c.786G>C (p.Gln262His)
2g.144403916C>TCA429218423ZEB2c.*656G>A (n.*656G>A)
c.30G>A (p.Gln10=)
c.807G>A (p.Gln269=)
n.776G>A
c.471G>A (p.Gln157=)
c.*524G>A (n.*524G>A)
n.907G>A
c.-133-5066G>A (n.-133-5066G>A)
c.804G>A (p.Gln268=)
c.891G>A (p.Gln297=)
c.546G>A (p.Gln182=)
c.894G>A (p.Gln298=)
c.792G>A (p.Gln264=)
c.735G>A (p.Gln245=)
c.798G>A (p.Gln266=)
c.786G>A (p.Gln262=)
 ClinVar dbSNP
2g.144403917T>ACA348714523ZEB2c.*655A>T (n.*655A>T)
c.29A>T (p.Gln10Leu)
c.806A>T (p.Gln269Leu)
n.775A>T
c.470A>T (p.Gln157Leu)
c.*523A>T (n.*523A>T)
n.906A>T
c.-133-5067A>T (n.-133-5067A>T)
c.803A>T (p.Gln268Leu)
c.890A>T (p.Gln297Leu)
c.545A>T (p.Gln182Leu)
c.893A>T (p.Gln298Leu)
c.791A>T (p.Gln264Leu)
c.734A>T (p.Gln245Leu)
c.797A>T (p.Gln266Leu)
c.785A>T (p.Gln262Leu)
2g.144403917T>CCA348714525ZEB2c.*655A>G (n.*655A>G)
c.29A>G (p.Gln10Arg)
c.806A>G (p.Gln269Arg)
n.775A>G
c.470A>G (p.Gln157Arg)
c.*523A>G (n.*523A>G)
n.906A>G
c.-133-5067A>G (n.-133-5067A>G)
c.803A>G (p.Gln268Arg)
c.890A>G (p.Gln297Arg)
c.545A>G (p.Gln182Arg)
c.893A>G (p.Gln298Arg)
c.791A>G (p.Gln264Arg)
c.734A>G (p.Gln245Arg)
c.797A>G (p.Gln266Arg)
c.785A>G (p.Gln262Arg)
2g.144403917T>GCA348714527ZEB2c.*655A>C (n.*655A>C)
c.29A>C (p.Gln10Pro)
c.806A>C (p.Gln269Pro)
n.775A>C
c.470A>C (p.Gln157Pro)
c.*523A>C (n.*523A>C)
n.906A>C
c.-133-5067A>C (n.-133-5067A>C)
c.803A>C (p.Gln268Pro)
c.890A>C (p.Gln297Pro)
c.545A>C (p.Gln182Pro)
c.893A>C (p.Gln298Pro)
c.791A>C (p.Gln264Pro)
c.734A>C (p.Gln245Pro)
c.797A>C (p.Gln266Pro)
c.785A>C (p.Gln262Pro)
2g.144403918G>ACA267217ZEB2c.*654C>T (n.*654C>T)
c.28C>T (p.Gln10Ter)
c.805C>T (p.Gln269Ter)
n.774C>T
c.469C>T (p.Gln157Ter)
c.*522C>T (n.*522C>T)
n.905C>T
c.-133-5068C>T (n.-133-5068C>T)
c.802C>T (p.Gln268Ter)
c.889C>T (p.Gln297Ter)
c.544C>T (p.Gln182Ter)
c.892C>T (p.Gln298Ter)
c.790C>T (p.Gln264Ter)
c.733C>T (p.Gln245Ter)
c.796C>T (p.Gln266Ter)
c.784C>T (p.Gln262Ter)
 ClinVar dbSNP
2g.144403918G>CCA348714529ZEB2c.*654C>G (n.*654C>G)
c.28C>G (p.Gln10Glu)
c.805C>G (p.Gln269Glu)
n.774C>G
c.469C>G (p.Gln157Glu)
c.*522C>G (n.*522C>G)
n.905C>G
c.-133-5068C>G (n.-133-5068C>G)
c.802C>G (p.Gln268Glu)
c.889C>G (p.Gln297Glu)
c.544C>G (p.Gln182Glu)
c.892C>G (p.Gln298Glu)
c.790C>G (p.Gln264Glu)
c.733C>G (p.Gln245Glu)
c.796C>G (p.Gln266Glu)
c.784C>G (p.Gln262Glu)
2g.144403918G=CA1294887161ZEB2c.*654C= (n.*654C=)
c.28C= (p.Gln10=)
c.805C= (p.Gln269=)
n.774C=
c.469C= (p.Gln157=)
c.*522C= (n.*522C=)
n.905C=
c.-133-5068C= (n.-133-5068C=)
c.802C= (p.Gln268=)
c.889C= (p.Gln297=)
c.544C= (p.Gln182=)
c.892C= (p.Gln298=)
c.790C= (p.Gln264=)
c.733C= (p.Gln245=)
c.796C= (p.Gln266=)
c.784C= (p.Gln262=)
2g.144403918G>TCA348714531ZEB2c.*654C>A (n.*654C>A)
c.28C>A (p.Gln10Lys)
c.805C>A (p.Gln269Lys)
n.774C>A
c.469C>A (p.Gln157Lys)
c.*522C>A (n.*522C>A)
n.905C>A
c.-133-5068C>A (n.-133-5068C>A)
c.802C>A (p.Gln268Lys)
c.889C>A (p.Gln297Lys)
c.544C>A (p.Gln182Lys)
c.892C>A (p.Gln298Lys)
c.790C>A (p.Gln264Lys)
c.733C>A (p.Gln245Lys)
c.796C>A (p.Gln266Lys)
c.784C>A (p.Gln262Lys)
2g.144403919A>CCA348714533ZEB2c.*653T>G (n.*653T>G)
c.27T>G (p.Asp9Glu)
c.804T>G (p.Asp268Glu)
n.773T>G
c.468T>G (p.Asp156Glu)
c.*521T>G (n.*521T>G)
n.904T>G
c.-133-5069T>G (n.-133-5069T>G)
c.801T>G (p.Asp267Glu)
c.888T>G (p.Asp296Glu)
c.543T>G (p.Asp181Glu)
c.891T>G (p.Asp297Glu)
c.789T>G (p.Asp263Glu)
c.732T>G (p.Asp244Glu)
c.795T>G (p.Asp265Glu)
c.783T>G (p.Asp261Glu)
2g.144403919A>GCA429218425ZEB2c.*653T>C (n.*653T>C)
c.27T>C (p.Asp9=)
c.804T>C (p.Asp268=)
n.773T>C
c.468T>C (p.Asp156=)
c.*521T>C (n.*521T>C)
n.904T>C
c.-133-5069T>C (n.-133-5069T>C)
c.801T>C (p.Asp267=)
c.888T>C (p.Asp296=)
c.543T>C (p.Asp181=)
c.891T>C (p.Asp297=)
c.789T>C (p.Asp263=)
c.732T>C (p.Asp244=)
c.795T>C (p.Asp265=)
c.783T>C (p.Asp261=)
2g.144403919A>TCA348714535ZEB2c.*653T>A (n.*653T>A)
c.27T>A (p.Asp9Glu)
c.804T>A (p.Asp268Glu)
n.773T>A
c.468T>A (p.Asp156Glu)
c.*521T>A (n.*521T>A)
n.904T>A
c.-133-5069T>A (n.-133-5069T>A)
c.801T>A (p.Asp267Glu)
c.888T>A (p.Asp296Glu)
c.543T>A (p.Asp181Glu)
c.891T>A (p.Asp297Glu)
c.789T>A (p.Asp263Glu)
c.732T>A (p.Asp244Glu)
c.795T>A (p.Asp265Glu)
c.783T>A (p.Asp261Glu)
2g.144403920T>ACA348714539ZEB2c.*652A>T (n.*652A>T)
c.26A>T (p.Asp9Val)
c.803A>T (p.Asp268Val)
n.772A>T
c.467A>T (p.Asp156Val)
c.*520A>T (n.*520A>T)
n.903A>T
c.-133-5070A>T (n.-133-5070A>T)
c.800A>T (p.Asp267Val)
c.887A>T (p.Asp296Val)
c.542A>T (p.Asp181Val)
c.890A>T (p.Asp297Val)
c.788A>T (p.Asp263Val)
c.731A>T (p.Asp244Val)
c.794A>T (p.Asp265Val)
c.782A>T (p.Asp261Val)
2g.144403920T>CCA348714541ZEB2c.*652A>G (n.*652A>G)
c.26A>G (p.Asp9Gly)
c.803A>G (p.Asp268Gly)
n.772A>G
c.467A>G (p.Asp156Gly)
c.*520A>G (n.*520A>G)
n.903A>G
c.-133-5070A>G (n.-133-5070A>G)
c.800A>G (p.Asp267Gly)
c.887A>G (p.Asp296Gly)
c.542A>G (p.Asp181Gly)
c.890A>G (p.Asp297Gly)
c.788A>G (p.Asp263Gly)
c.731A>G (p.Asp244Gly)
c.794A>G (p.Asp265Gly)
c.782A>G (p.Asp261Gly)
2g.144403920T>GCA348714542ZEB2c.*652A>C (n.*652A>C)
c.26A>C (p.Asp9Ala)
c.803A>C (p.Asp268Ala)
n.772A>C
c.467A>C (p.Asp156Ala)
c.*520A>C (n.*520A>C)
n.903A>C
c.-133-5070A>C (n.-133-5070A>C)
c.800A>C (p.Asp267Ala)
c.887A>C (p.Asp296Ala)
c.542A>C (p.Asp181Ala)
c.890A>C (p.Asp297Ala)
c.788A>C (p.Asp263Ala)
c.731A>C (p.Asp244Ala)
c.794A>C (p.Asp265Ala)
c.782A>C (p.Asp261Ala)
2g.144403921C>ACA348714546ZEB2c.*651G>T (n.*651G>T)
c.25G>T (p.Asp9Tyr)
c.802G>T (p.Asp268Tyr)
n.771G>T
c.466G>T (p.Asp156Tyr)
c.*519G>T (n.*519G>T)
n.902G>T
c.-133-5071G>T (n.-133-5071G>T)
c.799G>T (p.Asp267Tyr)
c.886G>T (p.Asp296Tyr)
c.541G>T (p.Asp181Tyr)
c.889G>T (p.Asp297Tyr)
c.787G>T (p.Asp263Tyr)
c.730G>T (p.Asp244Tyr)
c.793G>T (p.Asp265Tyr)
c.781G>T (p.Asp261Tyr)
2g.144403921C>GCA348714549ZEB2c.*651G>C (n.*651G>C)
c.25G>C (p.Asp9His)
c.802G>C (p.Asp268His)
n.771G>C
c.466G>C (p.Asp156His)
c.*519G>C (n.*519G>C)
n.902G>C
c.-133-5071G>C (n.-133-5071G>C)
c.799G>C (p.Asp267His)
c.886G>C (p.Asp296His)
c.541G>C (p.Asp181His)
c.889G>C (p.Asp297His)
c.787G>C (p.Asp263His)
c.730G>C (p.Asp244His)
c.793G>C (p.Asp265His)
c.781G>C (p.Asp261His)
2g.144403921C>TCA348714547ZEB2c.*651G>A (n.*651G>A)
c.25G>A (p.Asp9Asn)
c.802G>A (p.Asp268Asn)
n.771G>A
c.466G>A (p.Asp156Asn)
c.*519G>A (n.*519G>A)
n.902G>A
c.-133-5071G>A (n.-133-5071G>A)
c.799G>A (p.Asp267Asn)
c.886G>A (p.Asp296Asn)
c.541G>A (p.Asp181Asn)
c.889G>A (p.Asp297Asn)
c.787G>A (p.Asp263Asn)
c.730G>A (p.Asp244Asn)
c.793G>A (p.Asp265Asn)
c.781G>A (p.Asp261Asn)
 ClinVar
2g.144403922T>ACA429218429ZEB2c.*650A>T (n.*650A>T)
c.24A>T (p.Thr8=)
c.801A>T (p.Thr267=)
n.770A>T
c.465A>T (p.Thr155=)
c.*518A>T (n.*518A>T)
n.901A>T
c.-133-5072A>T (n.-133-5072A>T)
c.798A>T (p.Thr266=)
c.885A>T (p.Thr295=)
c.540A>T (p.Thr180=)
c.888A>T (p.Thr296=)
c.786A>T (p.Thr262=)
c.729A>T (p.Thr243=)
c.792A>T (p.Thr264=)
c.780A>T (p.Thr260=)
2g.144403922T>CCA429218430ZEB2c.*650A>G (n.*650A>G)
c.24A>G (p.Thr8=)
c.801A>G (p.Thr267=)
n.770A>G
c.465A>G (p.Thr155=)
c.*518A>G (n.*518A>G)
n.901A>G
c.-133-5072A>G (n.-133-5072A>G)
c.798A>G (p.Thr266=)
c.885A>G (p.Thr295=)
c.540A>G (p.Thr180=)
c.888A>G (p.Thr296=)
c.786A>G (p.Thr262=)
c.729A>G (p.Thr243=)
c.792A>G (p.Thr264=)
c.780A>G (p.Thr260=)
 ClinVar
2g.144403922T>GCA429218431ZEB2c.*650A>C (n.*650A>C)
c.24A>C (p.Thr8=)
c.801A>C (p.Thr267=)
n.770A>C
c.465A>C (p.Thr155=)
c.*518A>C (n.*518A>C)
n.901A>C
c.-133-5072A>C (n.-133-5072A>C)
c.798A>C (p.Thr266=)
c.885A>C (p.Thr295=)
c.540A>C (p.Thr180=)
c.888A>C (p.Thr296=)
c.786A>C (p.Thr262=)
c.729A>C (p.Thr243=)
c.792A>C (p.Thr264=)
c.780A>C (p.Thr260=)
2g.144403922_144403923insCCA645521258ZEB2c.*649_*650insG (n.*649_*650insG)
c.23_24insG (p.Asp9ArgfsTer12)
c.800_801insG (p.Asp268ArgfsTer12)
n.769_770insG
c.464_465insG (p.Asp156ArgfsTer12)
c.*517_*518insG (n.*517_*518insG)
n.900_901insG
c.-133-5073_-133-5072insG (n.-133-5073_-133-5072insG)
c.797_798insG (p.Asp267ArgfsTer12)
c.884_885insG (p.Asp296ArgfsTer12)
c.539_540insG (p.Asp181ArgfsTer12)
c.887_888insG (p.Asp297ArgfsTer12)
c.785_786insG (p.Asp263ArgfsTer12)
c.728_729insG (p.Asp244ArgfsTer12)
c.791_792insG (p.Asp265ArgfsTer12)
c.779_780insG (p.Asp261ArgfsTer12)
 COSMIC
2g.144403923G>ACA348714551ZEB2c.*649C>T (n.*649C>T)
c.23C>T (p.Thr8Ile)
c.800C>T (p.Thr267Ile)
n.769C>T
c.464C>T (p.Thr155Ile)
c.*517C>T (n.*517C>T)
n.900C>T
c.-133-5073C>T (n.-133-5073C>T)
c.797C>T (p.Thr266Ile)
c.884C>T (p.Thr295Ile)
c.539C>T (p.Thr180Ile)
c.887C>T (p.Thr296Ile)
c.785C>T (p.Thr262Ile)
c.728C>T (p.Thr243Ile)
c.791C>T (p.Thr264Ile)
c.779C>T (p.Thr260Ile)
 gnomAD v4
2g.144403923G>CCA348714556ZEB2c.*649C>G (n.*649C>G)
c.23C>G (p.Thr8Arg)
c.800C>G (p.Thr267Arg)
n.769C>G
c.464C>G (p.Thr155Arg)
c.*517C>G (n.*517C>G)
n.900C>G
c.-133-5073C>G (n.-133-5073C>G)
c.797C>G (p.Thr266Arg)
c.884C>G (p.Thr295Arg)
c.539C>G (p.Thr180Arg)
c.887C>G (p.Thr296Arg)
c.785C>G (p.Thr262Arg)
c.728C>G (p.Thr243Arg)
c.791C>G (p.Thr264Arg)
c.779C>G (p.Thr260Arg)
2g.144403923G>TCA348714553ZEB2c.*649C>A (n.*649C>A)
c.23C>A (p.Thr8Lys)
c.800C>A (p.Thr267Lys)
n.769C>A
c.464C>A (p.Thr155Lys)
c.*517C>A (n.*517C>A)
n.900C>A
c.-133-5073C>A (n.-133-5073C>A)
c.797C>A (p.Thr266Lys)
c.884C>A (p.Thr295Lys)
c.539C>A (p.Thr180Lys)
c.887C>A (p.Thr296Lys)
c.785C>A (p.Thr262Lys)
c.728C>A (p.Thr243Lys)
c.791C>A (p.Thr264Lys)
c.779C>A (p.Thr260Lys)
2g.144403923dupCA429218432ZEB2c.*649dup (n.*649dup)
c.23dup (p.Asp9ArgfsTer12)
c.800dup (p.Asp268ArgfsTer12)
n.769dup
c.464dup (p.Asp156ArgfsTer12)
c.*517dup (n.*517dup)
n.900dup
c.-133-5073dup (n.-133-5073dup)
c.797dup (p.Asp267ArgfsTer12)
c.884dup (p.Asp296ArgfsTer12)
c.539dup (p.Asp181ArgfsTer12)
c.887dup (p.Asp297ArgfsTer12)
c.785dup (p.Asp263ArgfsTer12)
c.728dup (p.Asp244ArgfsTer12)
c.791dup (p.Asp265ArgfsTer12)
c.779dup (p.Asp261ArgfsTer12)
2g.144403924T>ACA348714559ZEB2c.*648A>T (n.*648A>T)
c.22A>T (p.Thr8Ser)
c.799A>T (p.Thr267Ser)
n.768A>T
c.463A>T (p.Thr155Ser)
c.*516A>T (n.*516A>T)
n.899A>T
c.-133-5074A>T (n.-133-5074A>T)
c.796A>T (p.Thr266Ser)
c.883A>T (p.Thr295Ser)
c.538A>T (p.Thr180Ser)
c.886A>T (p.Thr296Ser)
c.784A>T (p.Thr262Ser)
c.727A>T (p.Thr243Ser)
c.790A>T (p.Thr264Ser)
c.778A>T (p.Thr260Ser)
 ClinVar
2g.144403924T>CCA348714561ZEB2c.*648A>G (n.*648A>G)
c.22A>G (p.Thr8Ala)
c.799A>G (p.Thr267Ala)
n.768A>G
c.463A>G (p.Thr155Ala)
c.*516A>G (n.*516A>G)
n.899A>G
c.-133-5074A>G (n.-133-5074A>G)
c.796A>G (p.Thr266Ala)
c.883A>G (p.Thr295Ala)
c.538A>G (p.Thr180Ala)
c.886A>G (p.Thr296Ala)
c.784A>G (p.Thr262Ala)
c.727A>G (p.Thr243Ala)
c.790A>G (p.Thr264Ala)
c.778A>G (p.Thr260Ala)
2g.144403924T>GCA348714563ZEB2c.*648A>C (n.*648A>C)
c.22A>C (p.Thr8Pro)
c.799A>C (p.Thr267Pro)
n.768A>C
c.463A>C (p.Thr155Pro)
c.*516A>C (n.*516A>C)
n.899A>C
c.-133-5074A>C (n.-133-5074A>C)
c.796A>C (p.Thr266Pro)
c.883A>C (p.Thr295Pro)
c.538A>C (p.Thr180Pro)
c.886A>C (p.Thr296Pro)
c.784A>C (p.Thr262Pro)
c.727A>C (p.Thr243Pro)
c.790A>C (p.Thr264Pro)
c.778A>C (p.Thr260Pro)
2g.144403925C>ACA429218434ZEB2c.*647G>T (n.*647G>T)
c.21G>T (p.Gly7=)
c.798G>T (p.Gly266=)
n.767G>T
c.462G>T (p.Gly154=)
c.*515G>T (n.*515G>T)
n.898G>T
c.-133-5075G>T (n.-133-5075G>T)
c.795G>T (p.Gly265=)
c.882G>T (p.Gly294=)
c.537G>T (p.Gly179=)
c.885G>T (p.Gly295=)
c.783G>T (p.Gly261=)
c.726G>T (p.Gly242=)
c.789G>T (p.Gly263=)
c.777G>T (p.Gly259=)
2g.144403925C=CA1294887162ZEB2c.*647G= (n.*647G=)
c.21G= (p.Gly7=)
c.798G= (p.Gly266=)
n.767G=
c.462G= (p.Gly154=)
c.*515G= (n.*515G=)
n.898G=
c.-133-5075G= (n.-133-5075G=)
c.795G= (p.Gly265=)
c.882G= (p.Gly294=)
c.537G= (p.Gly179=)
c.885G= (p.Gly295=)
c.783G= (p.Gly261=)
c.726G= (p.Gly242=)
c.789G= (p.Gly263=)
c.777G= (p.Gly259=)
2g.144403925C>GCA173953ZEB2c.*647G>C (n.*647G>C)
c.21G>C (p.Gly7=)
c.798G>C (p.Gly266=)
n.767G>C
c.462G>C (p.Gly154=)
c.*515G>C (n.*515G>C)
n.898G>C
c.-133-5075G>C (n.-133-5075G>C)
c.795G>C (p.Gly265=)
c.882G>C (p.Gly294=)
c.537G>C (p.Gly179=)
c.885G>C (p.Gly295=)
c.783G>C (p.Gly261=)
c.726G>C (p.Gly242=)
c.789G>C (p.Gly263=)
c.777G>C (p.Gly259=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144403925C>TCA16603810ZEB2c.*647G>A (n.*647G>A)
c.21G>A (p.Gly7=)
c.798G>A (p.Gly266=)
n.767G>A
c.462G>A (p.Gly154=)
c.*515G>A (n.*515G>A)
n.898G>A
c.-133-5075G>A (n.-133-5075G>A)
c.795G>A (p.Gly265=)
c.882G>A (p.Gly294=)
c.537G>A (p.Gly179=)
c.885G>A (p.Gly295=)
c.783G>A (p.Gly261=)
c.726G>A (p.Gly242=)
c.789G>A (p.Gly263=)
c.777G>A (p.Gly259=)
 ClinVar dbSNP
2g.144403926C>ACA348714567ZEB2c.*646G>T (n.*646G>T)
c.20G>T (p.Gly7Val)
c.797G>T (p.Gly266Val)
n.766G>T
c.461G>T (p.Gly154Val)
c.*514G>T (n.*514G>T)
n.897G>T
c.-133-5076G>T (n.-133-5076G>T)
c.794G>T (p.Gly265Val)
c.881G>T (p.Gly294Val)
c.536G>T (p.Gly179Val)
c.884G>T (p.Gly295Val)
c.782G>T (p.Gly261Val)
c.725G>T (p.Gly242Val)
c.788G>T (p.Gly263Val)
c.776G>T (p.Gly259Val)
2g.144403926C=CA1294887163ZEB2c.*646G= (n.*646G=)
c.20G= (p.Gly7=)
c.797G= (p.Gly266=)
n.766G=
c.461G= (p.Gly154=)
c.*514G= (n.*514G=)
n.897G=
c.-133-5076G= (n.-133-5076G=)
c.794G= (p.Gly265=)
c.881G= (p.Gly294=)
c.536G= (p.Gly179=)
c.884G= (p.Gly295=)
c.782G= (p.Gly261=)
c.725G= (p.Gly242=)
c.788G= (p.Gly263=)
c.776G= (p.Gly259=)
2g.144403926C>GCA348714569ZEB2c.*646G>C (n.*646G>C)
c.20G>C (p.Gly7Ala)
c.797G>C (p.Gly266Ala)
n.766G>C
c.461G>C (p.Gly154Ala)
c.*514G>C (n.*514G>C)
n.897G>C
c.-133-5076G>C (n.-133-5076G>C)
c.794G>C (p.Gly265Ala)
c.881G>C (p.Gly294Ala)
c.536G>C (p.Gly179Ala)
c.884G>C (p.Gly295Ala)
c.782G>C (p.Gly261Ala)
c.725G>C (p.Gly242Ala)
c.788G>C (p.Gly263Ala)
c.776G>C (p.Gly259Ala)
2g.144403926C>TCA16603807ZEB2c.*646G>A (n.*646G>A)
c.20G>A (p.Gly7Glu)
c.797G>A (p.Gly266Glu)
n.766G>A
c.461G>A (p.Gly154Glu)
c.*514G>A (n.*514G>A)
n.897G>A
c.-133-5076G>A (n.-133-5076G>A)
c.794G>A (p.Gly265Glu)
c.881G>A (p.Gly294Glu)
c.536G>A (p.Gly179Glu)
c.884G>A (p.Gly295Glu)
c.782G>A (p.Gly261Glu)
c.725G>A (p.Gly242Glu)
c.788G>A (p.Gly263Glu)
c.776G>A (p.Gly259Glu)
 ClinVar dbSNP
2g.144403927C>ACA348714570ZEB2c.*645G>T (n.*645G>T)
c.19G>T (p.Gly7Trp)
c.796G>T (p.Gly266Trp)
n.765G>T
c.460G>T (p.Gly154Trp)
c.*513G>T (n.*513G>T)
n.896G>T
c.-133-5077G>T (n.-133-5077G>T)
c.793G>T (p.Gly265Trp)
c.880G>T (p.Gly294Trp)
c.535G>T (p.Gly179Trp)
c.883G>T (p.Gly295Trp)
c.781G>T (p.Gly261Trp)
c.724G>T (p.Gly242Trp)
c.787G>T (p.Gly263Trp)
c.775G>T (p.Gly259Trp)
2g.144403927C>GCA348714571ZEB2c.*645G>C (n.*645G>C)
c.19G>C (p.Gly7Arg)
c.796G>C (p.Gly266Arg)
n.765G>C
c.460G>C (p.Gly154Arg)
c.*513G>C (n.*513G>C)
n.896G>C
c.-133-5077G>C (n.-133-5077G>C)
c.793G>C (p.Gly265Arg)
c.880G>C (p.Gly294Arg)
c.535G>C (p.Gly179Arg)
c.883G>C (p.Gly295Arg)
c.781G>C (p.Gly261Arg)
c.724G>C (p.Gly242Arg)
c.787G>C (p.Gly263Arg)
c.775G>C (p.Gly259Arg)
2g.144403927C>TCA348714572ZEB2c.*645G>A (n.*645G>A)
c.19G>A (p.Gly7Arg)
c.796G>A (p.Gly266Arg)
n.765G>A
c.460G>A (p.Gly154Arg)
c.*513G>A (n.*513G>A)
n.896G>A
c.-133-5077G>A (n.-133-5077G>A)
c.793G>A (p.Gly265Arg)
c.880G>A (p.Gly294Arg)
c.535G>A (p.Gly179Arg)
c.883G>A (p.Gly295Arg)
c.781G>A (p.Gly261Arg)
c.724G>A (p.Gly242Arg)
c.787G>A (p.Gly263Arg)
c.775G>A (p.Gly259Arg)
2g.144403928T>ACA429218440ZEB2c.*644A>T (n.*644A>T)
c.18A>T (p.Pro6=)
c.795A>T (p.Pro265=)
n.764A>T
c.459A>T (p.Pro153=)
c.*512A>T (n.*512A>T)
n.895A>T
c.-133-5078A>T (n.-133-5078A>T)
c.792A>T (p.Pro264=)
c.879A>T (p.Pro293=)
c.534A>T (p.Pro178=)
c.882A>T (p.Pro294=)
c.780A>T (p.Pro260=)
c.723A>T (p.Pro241=)
c.786A>T (p.Pro262=)
c.774A>T (p.Pro258=)
2g.144403928T>CCA429218439ZEB2c.*644A>G (n.*644A>G)
c.18A>G (p.Pro6=)
c.795A>G (p.Pro265=)
n.764A>G
c.459A>G (p.Pro153=)
c.*512A>G (n.*512A>G)
n.895A>G
c.-133-5078A>G (n.-133-5078A>G)
c.792A>G (p.Pro264=)
c.879A>G (p.Pro293=)
c.534A>G (p.Pro178=)
c.882A>G (p.Pro294=)
c.780A>G (p.Pro260=)
c.723A>G (p.Pro241=)
c.786A>G (p.Pro262=)
c.774A>G (p.Pro258=)
2g.144403928T>GCA429218438ZEB2c.*644A>C (n.*644A>C)
c.18A>C (p.Pro6=)
c.795A>C (p.Pro265=)
n.764A>C
c.459A>C (p.Pro153=)
c.*512A>C (n.*512A>C)
n.895A>C
c.-133-5078A>C (n.-133-5078A>C)
c.792A>C (p.Pro264=)
c.879A>C (p.Pro293=)
c.534A>C (p.Pro178=)
c.882A>C (p.Pro294=)
c.780A>C (p.Pro260=)
c.723A>C (p.Pro241=)
c.786A>C (p.Pro262=)
c.774A>C (p.Pro258=)
2g.144403929G>ACA348714573ZEB2c.*643C>T (n.*643C>T)
c.17C>T (p.Pro6Leu)
c.794C>T (p.Pro265Leu)
n.763C>T
c.458C>T (p.Pro153Leu)
c.*511C>T (n.*511C>T)
n.894C>T
c.-133-5079C>T (n.-133-5079C>T)
c.791C>T (p.Pro264Leu)
c.878C>T (p.Pro293Leu)
c.533C>T (p.Pro178Leu)
c.881C>T (p.Pro294Leu)
c.779C>T (p.Pro260Leu)
c.722C>T (p.Pro241Leu)
c.785C>T (p.Pro262Leu)
c.773C>T (p.Pro258Leu)
 dbSNP gnomAD v4
2g.144403929G>CCA348714574ZEB2c.*643C>G (n.*643C>G)
c.17C>G (p.Pro6Arg)
c.794C>G (p.Pro265Arg)
n.763C>G
c.458C>G (p.Pro153Arg)
c.*511C>G (n.*511C>G)
n.894C>G
c.-133-5079C>G (n.-133-5079C>G)
c.791C>G (p.Pro264Arg)
c.878C>G (p.Pro293Arg)
c.533C>G (p.Pro178Arg)
c.881C>G (p.Pro294Arg)
c.779C>G (p.Pro260Arg)
c.722C>G (p.Pro241Arg)
c.785C>G (p.Pro262Arg)
c.773C>G (p.Pro258Arg)
2g.144403929G=CA1294887164ZEB2c.*643C= (n.*643C=)
c.17C= (p.Pro6=)
c.794C= (p.Pro265=)
n.763C=
c.458C= (p.Pro153=)
c.*511C= (n.*511C=)
n.894C=
c.-133-5079C= (n.-133-5079C=)
c.791C= (p.Pro264=)
c.878C= (p.Pro293=)
c.533C= (p.Pro178=)
c.881C= (p.Pro294=)
c.779C= (p.Pro260=)
c.722C= (p.Pro241=)
c.785C= (p.Pro262=)
c.773C= (p.Pro258=)
2g.144403929G>TCA348714575ZEB2c.*643C>A (n.*643C>A)
c.17C>A (p.Pro6Gln)
c.794C>A (p.Pro265Gln)
n.763C>A
c.458C>A (p.Pro153Gln)
c.*511C>A (n.*511C>A)
n.894C>A
c.-133-5079C>A (n.-133-5079C>A)
c.791C>A (p.Pro264Gln)
c.878C>A (p.Pro293Gln)
c.533C>A (p.Pro178Gln)
c.881C>A (p.Pro294Gln)
c.779C>A (p.Pro260Gln)
c.722C>A (p.Pro241Gln)
c.785C>A (p.Pro262Gln)
c.773C>A (p.Pro258Gln)
2g.144403930G>ACA348714576ZEB2c.*642C>T (n.*642C>T)
c.16C>T (p.Pro6Ser)
c.793C>T (p.Pro265Ser)
n.762C>T
c.457C>T (p.Pro153Ser)
c.*510C>T (n.*510C>T)
n.893C>T
c.-133-5080C>T (n.-133-5080C>T)
c.790C>T (p.Pro264Ser)
c.877C>T (p.Pro293Ser)
c.532C>T (p.Pro178Ser)
c.880C>T (p.Pro294Ser)
c.778C>T (p.Pro260Ser)
c.721C>T (p.Pro241Ser)
c.784C>T (p.Pro262Ser)
c.772C>T (p.Pro258Ser)
2g.144403930G>CCA348714578ZEB2c.*642C>G (n.*642C>G)
c.16C>G (p.Pro6Ala)
c.793C>G (p.Pro265Ala)
n.762C>G
c.457C>G (p.Pro153Ala)
c.*510C>G (n.*510C>G)
n.893C>G
c.-133-5080C>G (n.-133-5080C>G)
c.790C>G (p.Pro264Ala)
c.877C>G (p.Pro293Ala)
c.532C>G (p.Pro178Ala)
c.880C>G (p.Pro294Ala)
c.778C>G (p.Pro260Ala)
c.721C>G (p.Pro241Ala)
c.784C>G (p.Pro262Ala)
c.772C>G (p.Pro258Ala)
2g.144403930G>TCA348714577ZEB2c.*642C>A (n.*642C>A)
c.16C>A (p.Pro6Thr)
c.793C>A (p.Pro265Thr)
n.762C>A
c.457C>A (p.Pro153Thr)
c.*510C>A (n.*510C>A)
n.893C>A
c.-133-5080C>A (n.-133-5080C>A)
c.790C>A (p.Pro264Thr)
c.877C>A (p.Pro293Thr)
c.532C>A (p.Pro178Thr)
c.880C>A (p.Pro294Thr)
c.778C>A (p.Pro260Thr)
c.721C>A (p.Pro241Thr)
c.784C>A (p.Pro262Thr)
c.772C>A (p.Pro258Thr)
2g.144403931C>ACA348714579ZEB2c.*641G>T (n.*641G>T)
c.15G>T (p.Lys5Asn)
c.792G>T (p.Lys264Asn)
n.761G>T
c.456G>T (p.Lys152Asn)
c.*509G>T (n.*509G>T)
n.892G>T
c.-133-5081G>T (n.-133-5081G>T)
c.789G>T (p.Lys263Asn)
c.876G>T (p.Lys292Asn)
c.531G>T (p.Lys177Asn)
c.879G>T (p.Lys293Asn)
c.777G>T (p.Lys259Asn)
c.720G>T (p.Lys240Asn)
c.783G>T (p.Lys261Asn)
c.771G>T (p.Lys257Asn)
2g.144403931C>GCA348714580ZEB2c.*641G>C (n.*641G>C)
c.15G>C (p.Lys5Asn)
c.792G>C (p.Lys264Asn)
n.761G>C
c.456G>C (p.Lys152Asn)
c.*509G>C (n.*509G>C)
n.892G>C
c.-133-5081G>C (n.-133-5081G>C)
c.789G>C (p.Lys263Asn)
c.876G>C (p.Lys292Asn)
c.531G>C (p.Lys177Asn)
c.879G>C (p.Lys293Asn)
c.777G>C (p.Lys259Asn)
c.720G>C (p.Lys240Asn)
c.783G>C (p.Lys261Asn)
c.771G>C (p.Lys257Asn)
2g.144403931C>TCA429218444ZEB2c.*641G>A (n.*641G>A)
c.15G>A (p.Lys5=)
c.792G>A (p.Lys264=)
n.761G>A
c.456G>A (p.Lys152=)
c.*509G>A (n.*509G>A)
n.892G>A
c.-133-5081G>A (n.-133-5081G>A)
c.789G>A (p.Lys263=)
c.876G>A (p.Lys292=)
c.531G>A (p.Lys177=)
c.879G>A (p.Lys293=)
c.777G>A (p.Lys259=)
c.720G>A (p.Lys240=)
c.783G>A (p.Lys261=)
c.771G>A (p.Lys257=)
 gnomAD v4
2g.144403932T>ACA348714581ZEB2c.*640A>T (n.*640A>T)
c.14A>T (p.Lys5Met)
c.791A>T (p.Lys264Met)
n.760A>T
c.455A>T (p.Lys152Met)
c.*508A>T (n.*508A>T)
n.891A>T
c.-133-5082A>T (n.-133-5082A>T)
c.788A>T (p.Lys263Met)
c.875A>T (p.Lys292Met)
c.530A>T (p.Lys177Met)
c.878A>T (p.Lys293Met)
c.776A>T (p.Lys259Met)
c.719A>T (p.Lys240Met)
c.782A>T (p.Lys261Met)
c.770A>T (p.Lys257Met)
2g.144403932T>CCA348714582ZEB2c.*640A>G (n.*640A>G)
c.14A>G (p.Lys5Arg)
c.791A>G (p.Lys264Arg)
n.760A>G
c.455A>G (p.Lys152Arg)
c.*508A>G (n.*508A>G)
n.891A>G
c.-133-5082A>G (n.-133-5082A>G)
c.788A>G (p.Lys263Arg)
c.875A>G (p.Lys292Arg)
c.530A>G (p.Lys177Arg)
c.878A>G (p.Lys293Arg)
c.776A>G (p.Lys259Arg)
c.719A>G (p.Lys240Arg)
c.782A>G (p.Lys261Arg)
c.770A>G (p.Lys257Arg)
2g.144403932T>GCA348714583ZEB2c.*640A>C (n.*640A>C)
c.14A>C (p.Lys5Thr)
c.791A>C (p.Lys264Thr)
n.760A>C
c.455A>C (p.Lys152Thr)
c.*508A>C (n.*508A>C)
n.891A>C
c.-133-5082A>C (n.-133-5082A>C)
c.788A>C (p.Lys263Thr)
c.875A>C (p.Lys292Thr)
c.530A>C (p.Lys177Thr)
c.878A>C (p.Lys293Thr)
c.776A>C (p.Lys259Thr)
c.719A>C (p.Lys240Thr)
c.782A>C (p.Lys261Thr)
c.770A>C (p.Lys257Thr)
2g.144403932_144403934delinsTTGCA1294887165ZEB2c.*638_*640delinsCAA (n.*638_*640delinsCAA)
c.12_14delinsCAA (p.His4=)
c.789_791delinsCAA (p.His263=)
n.758_760delinsCAA
c.453_455delinsCAA (p.His151=)
c.*506_*508delinsCAA (n.*506_*508delinsCAA)
n.889_891delinsCAA
c.-133-5084_-133-5082delinsCAA (n.-133-5084_-133-5082delinsCAA)
c.786_788delinsCAA (p.His262=)
c.873_875delinsCAA (p.His291=)
c.528_530delinsCAA (p.His176=)
c.876_878delinsCAA (p.His292=)
c.774_776delinsCAA (p.His258=)
c.717_719delinsCAA (p.His239=)
c.780_782delinsCAA (p.His260=)
c.768_770delinsCAA (p.His256=)
2g.144403933T>ACA348714584ZEB2c.*639A>T (n.*639A>T)
c.13A>T (p.Lys5Ter)
c.790A>T (p.Lys264Ter)
n.759A>T
c.454A>T (p.Lys152Ter)
c.*507A>T (n.*507A>T)
n.890A>T
c.-133-5083A>T (n.-133-5083A>T)
c.787A>T (p.Lys263Ter)
c.874A>T (p.Lys292Ter)
c.529A>T (p.Lys177Ter)
c.877A>T (p.Lys293Ter)
c.775A>T (p.Lys259Ter)
c.718A>T (p.Lys240Ter)
c.781A>T (p.Lys261Ter)
c.769A>T (p.Lys257Ter)
2g.144403933T>CCA348714585ZEB2c.*639A>G (n.*639A>G)
c.13A>G (p.Lys5Glu)
c.790A>G (p.Lys264Glu)
n.759A>G
c.454A>G (p.Lys152Glu)
c.*507A>G (n.*507A>G)
n.890A>G
c.-133-5083A>G (n.-133-5083A>G)
c.787A>G (p.Lys263Glu)
c.874A>G (p.Lys292Glu)
c.529A>G (p.Lys177Glu)
c.877A>G (p.Lys293Glu)
c.775A>G (p.Lys259Glu)
c.718A>G (p.Lys240Glu)
c.781A>G (p.Lys261Glu)
c.769A>G (p.Lys257Glu)
2g.144403933T>GCA348714586ZEB2c.*639A>C (n.*639A>C)
c.13A>C (p.Lys5Gln)
c.790A>C (p.Lys264Gln)
n.759A>C
c.454A>C (p.Lys152Gln)
c.*507A>C (n.*507A>C)
n.890A>C
c.-133-5083A>C (n.-133-5083A>C)
c.787A>C (p.Lys263Gln)
c.874A>C (p.Lys292Gln)
c.529A>C (p.Lys177Gln)
c.877A>C (p.Lys293Gln)
c.775A>C (p.Lys259Gln)
c.718A>C (p.Lys240Gln)
c.781A>C (p.Lys261Gln)
c.769A>C (p.Lys257Gln)
2g.144403938_144403939delCA658795852ZEB2c.*638_*639del (n.*638_*639del)
c.12_13del (p.His4GlnfsTer16)
c.789_790del (p.His263GlnfsTer16)
n.758_759del
c.453_454del (p.His151GlnfsTer16)
c.*506_*507del (n.*506_*507del)
n.889_890del
c.-133-5084_-133-5083del (n.-133-5084_-133-5083del)
c.786_787del (p.His262GlnfsTer16)
c.873_874del (p.His291GlnfsTer16)
c.528_529del (p.His176GlnfsTer16)
c.876_877del (p.His292GlnfsTer16)
c.774_775del (p.His258GlnfsTer16)
c.717_718del (p.His239GlnfsTer16)
c.780_781del (p.His260GlnfsTer16)
c.768_769del (p.His256GlnfsTer16)
 ClinVar dbSNP
2g.144403934G>ACA429218448ZEB2c.*638C>T (n.*638C>T)
c.12C>T (p.His4=)
c.789C>T (p.His263=)
n.758C>T
c.453C>T (p.His151=)
c.*506C>T (n.*506C>T)
n.889C>T
c.-133-5084C>T (n.-133-5084C>T)
c.786C>T (p.His262=)
c.873C>T (p.His291=)
c.528C>T (p.His176=)
c.876C>T (p.His292=)
c.774C>T (p.His258=)
c.717C>T (p.His239=)
c.780C>T (p.His260=)
c.768C>T (p.His256=)
2g.144403934G>CCA348714587ZEB2c.*638C>G (n.*638C>G)
c.12C>G (p.His4Gln)
c.789C>G (p.His263Gln)
n.758C>G
c.453C>G (p.His151Gln)
c.*506C>G (n.*506C>G)
n.889C>G
c.-133-5084C>G (n.-133-5084C>G)
c.786C>G (p.His262Gln)
c.873C>G (p.His291Gln)
c.528C>G (p.His176Gln)
c.876C>G (p.His292Gln)
c.774C>G (p.His258Gln)
c.717C>G (p.His239Gln)
c.780C>G (p.His260Gln)
c.768C>G (p.His256Gln)
 gnomAD v4
2g.144403934G>TCA348714588ZEB2c.*638C>A (n.*638C>A)
c.12C>A (p.His4Gln)
c.789C>A (p.His263Gln)
n.758C>A
c.453C>A (p.His151Gln)
c.*506C>A (n.*506C>A)
n.889C>A
c.-133-5084C>A (n.-133-5084C>A)
c.786C>A (p.His262Gln)
c.873C>A (p.His291Gln)
c.528C>A (p.His176Gln)
c.876C>A (p.His292Gln)
c.774C>A (p.His258Gln)
c.717C>A (p.His239Gln)
c.780C>A (p.His260Gln)
c.768C>A (p.His256Gln)
2g.144403935T>ACA348714591ZEB2c.*637A>T (n.*637A>T)
c.11A>T (p.His4Leu)
c.788A>T (p.His263Leu)
n.757A>T
c.452A>T (p.His151Leu)
c.*505A>T (n.*505A>T)
n.888A>T
c.-133-5085A>T (n.-133-5085A>T)
c.785A>T (p.His262Leu)
c.872A>T (p.His291Leu)
c.527A>T (p.His176Leu)
c.875A>T (p.His292Leu)
c.773A>T (p.His258Leu)
c.716A>T (p.His239Leu)
c.779A>T (p.His260Leu)
c.767A>T (p.His256Leu)
2g.144403935T>CCA348714590ZEB2c.*637A>G (n.*637A>G)
c.11A>G (p.His4Arg)
c.788A>G (p.His263Arg)
n.757A>G
c.452A>G (p.His151Arg)
c.*505A>G (n.*505A>G)
n.888A>G
c.-133-5085A>G (n.-133-5085A>G)
c.785A>G (p.His262Arg)
c.872A>G (p.His291Arg)
c.527A>G (p.His176Arg)
c.875A>G (p.His292Arg)
c.773A>G (p.His258Arg)
c.716A>G (p.His239Arg)
c.779A>G (p.His260Arg)
c.767A>G (p.His256Arg)
 COSMIC
2g.144403935T>GCA348714589ZEB2c.*637A>C (n.*637A>C)
c.11A>C (p.His4Pro)
c.788A>C (p.His263Pro)
n.757A>C
c.452A>C (p.His151Pro)
c.*505A>C (n.*505A>C)
n.888A>C
c.-133-5085A>C (n.-133-5085A>C)
c.785A>C (p.His262Pro)
c.872A>C (p.His291Pro)
c.527A>C (p.His176Pro)
c.875A>C (p.His292Pro)
c.773A>C (p.His258Pro)
c.716A>C (p.His239Pro)
c.779A>C (p.His260Pro)
c.767A>C (p.His256Pro)
 ClinVar dbSNP
2g.144403936G>ACA348714594ZEB2c.*636C>T (n.*636C>T)
c.10C>T (p.His4Tyr)
c.787C>T (p.His263Tyr)
n.756C>T
c.451C>T (p.His151Tyr)
c.*504C>T (n.*504C>T)
n.887C>T
c.-133-5086C>T (n.-133-5086C>T)
c.784C>T (p.His262Tyr)
c.871C>T (p.His291Tyr)
c.526C>T (p.His176Tyr)
c.874C>T (p.His292Tyr)
c.772C>T (p.His258Tyr)
c.715C>T (p.His239Tyr)
c.778C>T (p.His260Tyr)
c.766C>T (p.His256Tyr)
2g.144403936G>CCA348714592ZEB2c.*636C>G (n.*636C>G)
c.10C>G (p.His4Asp)
c.787C>G (p.His263Asp)
n.756C>G
c.451C>G (p.His151Asp)
c.*504C>G (n.*504C>G)
n.887C>G
c.-133-5086C>G (n.-133-5086C>G)
c.784C>G (p.His262Asp)
c.871C>G (p.His291Asp)
c.526C>G (p.His176Asp)
c.874C>G (p.His292Asp)
c.772C>G (p.His258Asp)
c.715C>G (p.His239Asp)
c.778C>G (p.His260Asp)
c.766C>G (p.His256Asp)
2g.144403936G>TCA348714593ZEB2c.*636C>A (n.*636C>A)
c.10C>A (p.His4Asn)
c.787C>A (p.His263Asn)
n.756C>A
c.451C>A (p.His151Asn)
c.*504C>A (n.*504C>A)
n.887C>A
c.-133-5086C>A (n.-133-5086C>A)
c.784C>A (p.His262Asn)
c.871C>A (p.His291Asn)
c.526C>A (p.His176Asn)
c.874C>A (p.His292Asn)
c.772C>A (p.His258Asn)
c.715C>A (p.His239Asn)
c.778C>A (p.His260Asn)
c.766C>A (p.His256Asn)
2g.144403937T>ACA429218449ZEB2c.*635A>T (n.*635A>T)
c.9A>T (p.Thr3=)
c.786A>T (p.Thr262=)
n.755A>T
c.450A>T (p.Thr150=)
c.*503A>T (n.*503A>T)
n.886A>T
c.-133-5087A>T (n.-133-5087A>T)
c.783A>T (p.Thr261=)
c.870A>T (p.Thr290=)
c.525A>T (p.Thr175=)
c.873A>T (p.Thr291=)
c.771A>T (p.Thr257=)
c.714A>T (p.Thr238=)
c.777A>T (p.Thr259=)
c.765A>T (p.Thr255=)
2g.144403937T>CCA429218450ZEB2c.*635A>G (n.*635A>G)
c.9A>G (p.Thr3=)
c.786A>G (p.Thr262=)
n.755A>G
c.450A>G (p.Thr150=)
c.*503A>G (n.*503A>G)
n.886A>G
c.-133-5087A>G (n.-133-5087A>G)
c.783A>G (p.Thr261=)
c.870A>G (p.Thr290=)
c.525A>G (p.Thr175=)
c.873A>G (p.Thr291=)
c.771A>G (p.Thr257=)
c.714A>G (p.Thr238=)
c.777A>G (p.Thr259=)
c.765A>G (p.Thr255=)
 dbSNP COSMIC
2g.144403937T>GCA429218451ZEB2c.*635A>C (n.*635A>C)
c.9A>C (p.Thr3=)
c.786A>C (p.Thr262=)
n.755A>C
c.450A>C (p.Thr150=)
c.*503A>C (n.*503A>C)
n.886A>C
c.-133-5087A>C (n.-133-5087A>C)
c.783A>C (p.Thr261=)
c.870A>C (p.Thr290=)
c.525A>C (p.Thr175=)
c.873A>C (p.Thr291=)
c.771A>C (p.Thr257=)
c.714A>C (p.Thr238=)
c.777A>C (p.Thr259=)
c.765A>C (p.Thr255=)
2g.144403937dupCA2586965031ZEB2c.*635dup (n.*635dup)
c.9dup (p.His4ThrfsTer17)
c.786dup (p.His263ThrfsTer17)
n.755dup
c.450dup (p.His151ThrfsTer17)
c.*503dup (n.*503dup)
n.886dup
c.-133-5087dup (n.-133-5087dup)
c.783dup (p.His262ThrfsTer17)
c.870dup (p.His291ThrfsTer17)
c.525dup (p.His176ThrfsTer17)
c.873dup (p.His292ThrfsTer17)
c.771dup (p.His258ThrfsTer17)
c.714dup (p.His239ThrfsTer17)
c.777dup (p.His260ThrfsTer17)
c.765dup (p.His256ThrfsTer17)
2g.144403938G>ACA348714595ZEB2c.*634C>T (n.*634C>T)
c.8C>T (p.Thr3Ile)
c.785C>T (p.Thr262Ile)
n.754C>T
c.449C>T (p.Thr150Ile)
c.*502C>T (n.*502C>T)
n.885C>T
c.-133-5088C>T (n.-133-5088C>T)
c.782C>T (p.Thr261Ile)
c.869C>T (p.Thr290Ile)
c.524C>T (p.Thr175Ile)
c.872C>T (p.Thr291Ile)
c.770C>T (p.Thr257Ile)
c.713C>T (p.Thr238Ile)
c.776C>T (p.Thr259Ile)
c.764C>T (p.Thr255Ile)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.144403938G>CCA348714596ZEB2c.*634C>G (n.*634C>G)
c.8C>G (p.Thr3Arg)
c.785C>G (p.Thr262Arg)
n.754C>G
c.449C>G (p.Thr150Arg)
c.*502C>G (n.*502C>G)
n.885C>G
c.-133-5088C>G (n.-133-5088C>G)
c.782C>G (p.Thr261Arg)
c.869C>G (p.Thr290Arg)
c.524C>G (p.Thr175Arg)
c.872C>G (p.Thr291Arg)
c.770C>G (p.Thr257Arg)
c.713C>G (p.Thr238Arg)
c.776C>G (p.Thr259Arg)
c.764C>G (p.Thr255Arg)
2g.144403938G=CA1294887166ZEB2c.*634C= (n.*634C=)
c.8C= (p.Thr3=)
c.785C= (p.Thr262=)
n.754C=
c.449C= (p.Thr150=)
c.*502C= (n.*502C=)
n.885C=
c.-133-5088C= (n.-133-5088C=)
c.782C= (p.Thr261=)
c.869C= (p.Thr290=)
c.524C= (p.Thr175=)
c.872C= (p.Thr291=)
c.770C= (p.Thr257=)
c.713C= (p.Thr238=)
c.776C= (p.Thr259=)
c.764C= (p.Thr255=)
2g.144403938G>TCA348714597ZEB2c.*634C>A (n.*634C>A)
c.8C>A (p.Thr3Lys)
c.785C>A (p.Thr262Lys)
n.754C>A
c.449C>A (p.Thr150Lys)
c.*502C>A (n.*502C>A)
n.885C>A
c.-133-5088C>A (n.-133-5088C>A)
c.782C>A (p.Thr261Lys)
c.869C>A (p.Thr290Lys)
c.524C>A (p.Thr175Lys)
c.872C>A (p.Thr291Lys)
c.770C>A (p.Thr257Lys)
c.713C>A (p.Thr238Lys)
c.776C>A (p.Thr259Lys)
c.764C>A (p.Thr255Lys)
2g.144403939T>ACA348714598ZEB2c.*633A>T (n.*633A>T)
c.7A>T (p.Thr3Ser)
c.784A>T (p.Thr262Ser)
n.753A>T
c.448A>T (p.Thr150Ser)
c.*501A>T (n.*501A>T)
n.884A>T
c.-133-5089A>T (n.-133-5089A>T)
c.781A>T (p.Thr261Ser)
c.868A>T (p.Thr290Ser)
c.523A>T (p.Thr175Ser)
c.871A>T (p.Thr291Ser)
c.769A>T (p.Thr257Ser)
c.712A>T (p.Thr238Ser)
c.775A>T (p.Thr259Ser)
c.763A>T (p.Thr255Ser)
2g.144403939T>CCA348714599ZEB2c.*633A>G (n.*633A>G)
c.7A>G (p.Thr3Ala)
c.784A>G (p.Thr262Ala)
n.753A>G
c.448A>G (p.Thr150Ala)
c.*501A>G (n.*501A>G)
n.884A>G
c.-133-5089A>G (n.-133-5089A>G)
c.781A>G (p.Thr261Ala)
c.868A>G (p.Thr290Ala)
c.523A>G (p.Thr175Ala)
c.871A>G (p.Thr291Ala)
c.769A>G (p.Thr257Ala)
c.712A>G (p.Thr238Ala)
c.775A>G (p.Thr259Ala)
c.763A>G (p.Thr255Ala)
 dbSNP
2g.144403939T>GCA348714600ZEB2c.*633A>C (n.*633A>C)
c.7A>C (p.Thr3Pro)
c.784A>C (p.Thr262Pro)
n.753A>C
c.448A>C (p.Thr150Pro)
c.*501A>C (n.*501A>C)
n.884A>C
c.-133-5089A>C (n.-133-5089A>C)
c.781A>C (p.Thr261Pro)
c.868A>C (p.Thr290Pro)
c.523A>C (p.Thr175Pro)
c.871A>C (p.Thr291Pro)
c.769A>C (p.Thr257Pro)
c.712A>C (p.Thr238Pro)
c.775A>C (p.Thr259Pro)
c.763A>C (p.Thr255Pro)
2g.144403939T=CA1294887167ZEB2c.*633A= (n.*633A=)
c.7A= (p.Thr3=)
c.784A= (p.Thr262=)
n.753A=
c.448A= (p.Thr150=)
c.*501A= (n.*501A=)
n.884A=
c.-133-5089A= (n.-133-5089A=)
c.781A= (p.Thr261=)
c.868A= (p.Thr290=)
c.523A= (p.Thr175=)
c.871A= (p.Thr291=)
c.769A= (p.Thr257=)
c.712A= (p.Thr238=)
c.775A= (p.Thr259=)
c.763A= (p.Thr255=)
2g.144403939_144403941delinsTCACA1294887168ZEB2c.*631_*633delinsTGA (n.*631_*633delinsTGA)
c.5_7delinsTGA (p.Val2=)
c.782_784delinsTGA (p.Val261=)
n.751_753delinsTGA
c.446_448delinsTGA (p.Val149=)
c.*499_*501delinsTGA (n.*499_*501delinsTGA)
n.882_884delinsTGA
c.-133-5091_-133-5089delinsTGA (n.-133-5091_-133-5089delinsTGA)
c.779_781delinsTGA (p.Val260=)
c.866_868delinsTGA (p.Val289=)
c.521_523delinsTGA (p.Val174=)
c.869_871delinsTGA (p.Val290=)
c.767_769delinsTGA (p.Val256=)
c.710_712delinsTGA (p.Val237=)
c.773_775delinsTGA (p.Val258=)
c.761_763delinsTGA (p.Val254=)
2g.144403940C>ACA429218453ZEB2c.*632G>T (n.*632G>T)
c.6G>T (p.Val2=)
c.783G>T (p.Val261=)
n.752G>T
c.447G>T (p.Val149=)
c.*500G>T (n.*500G>T)
n.883G>T
c.-133-5090G>T (n.-133-5090G>T)
c.780G>T (p.Val260=)
c.867G>T (p.Val289=)
c.522G>T (p.Val174=)
c.870G>T (p.Val290=)
c.768G>T (p.Val256=)
c.711G>T (p.Val237=)
c.774G>T (p.Val258=)
c.762G>T (p.Val254=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144403940C=CA1294887169ZEB2c.*632G= (n.*632G=)
c.6G= (p.Val2=)
c.783G= (p.Val261=)
n.752G=
c.447G= (p.Val149=)
c.*500G= (n.*500G=)
n.883G=
c.-133-5090G= (n.-133-5090G=)
c.780G= (p.Val260=)
c.867G= (p.Val289=)
c.522G= (p.Val174=)
c.870G= (p.Val290=)
c.768G= (p.Val256=)
c.711G= (p.Val237=)
c.774G= (p.Val258=)
c.762G= (p.Val254=)
2g.144403940C>GCA429218454ZEB2c.*632G>C (n.*632G>C)
c.6G>C (p.Val2=)
c.783G>C (p.Val261=)
n.752G>C
c.447G>C (p.Val149=)
c.*500G>C (n.*500G>C)
n.883G>C
c.-133-5090G>C (n.-133-5090G>C)
c.780G>C (p.Val260=)
c.867G>C (p.Val289=)
c.522G>C (p.Val174=)
c.870G>C (p.Val290=)
c.768G>C (p.Val256=)
c.711G>C (p.Val237=)
c.774G>C (p.Val258=)
c.762G>C (p.Val254=)
2g.144403940C>TCA429218455ZEB2c.*632G>A (n.*632G>A)
c.6G>A (p.Val2=)
c.783G>A (p.Val261=)
n.752G>A
c.447G>A (p.Val149=)
c.*500G>A (n.*500G>A)
n.883G>A
c.-133-5090G>A (n.-133-5090G>A)
c.780G>A (p.Val260=)
c.867G>A (p.Val289=)
c.522G>A (p.Val174=)
c.870G>A (p.Val290=)
c.768G>A (p.Val256=)
c.711G>A (p.Val237=)
c.774G>A (p.Val258=)
c.762G>A (p.Val254=)
 COSMIC
2g.144403941_144403942delCA267216ZEB2c.*631_*632del (n.*631_*632del)
c.5_6del (p.Val2AspfsTer18)
c.782_783del (p.Val261AspfsTer18)
n.751_752del
c.446_447del (p.Val149AspfsTer18)
c.*499_*500del (n.*499_*500del)
n.882_883del
c.-133-5091_-133-5090del (n.-133-5091_-133-5090del)
c.779_780del (p.Val260AspfsTer18)
c.866_867del (p.Val289AspfsTer18)
c.521_522del (p.Val174AspfsTer18)
c.869_870del (p.Val290AspfsTer18)
c.767_768del (p.Val256AspfsTer18)
c.710_711del (p.Val237AspfsTer18)
c.773_774del (p.Val258AspfsTer18)
c.761_762del (p.Val254AspfsTer18)
 ClinVar dbSNP
2g.144403941A>CCA348714601ZEB2c.*631T>G (n.*631T>G)
c.5T>G (p.Val2Gly)
c.782T>G (p.Val261Gly)
n.751T>G
c.446T>G (p.Val149Gly)
c.*499T>G (n.*499T>G)
n.882T>G
c.-133-5091T>G (n.-133-5091T>G)
c.779T>G (p.Val260Gly)
c.866T>G (p.Val289Gly)
c.521T>G (p.Val174Gly)
c.869T>G (p.Val290Gly)
c.767T>G (p.Val256Gly)
c.710T>G (p.Val237Gly)
c.773T>G (p.Val258Gly)
c.761T>G (p.Val254Gly)
2g.144403941A>GCA348714602ZEB2c.*631T>C (n.*631T>C)
c.5T>C (p.Val2Ala)
c.782T>C (p.Val261Ala)
n.751T>C
c.446T>C (p.Val149Ala)
c.*499T>C (n.*499T>C)
n.882T>C
c.-133-5091T>C (n.-133-5091T>C)
c.779T>C (p.Val260Ala)
c.866T>C (p.Val289Ala)
c.521T>C (p.Val174Ala)
c.869T>C (p.Val290Ala)
c.767T>C (p.Val256Ala)
c.710T>C (p.Val237Ala)
c.773T>C (p.Val258Ala)
c.761T>C (p.Val254Ala)
2g.144403941A>TCA348714603ZEB2c.*631T>A (n.*631T>A)
c.5T>A (p.Val2Glu)
c.782T>A (p.Val261Glu)
n.751T>A
c.446T>A (p.Val149Glu)
c.*499T>A (n.*499T>A)
n.882T>A
c.-133-5091T>A (n.-133-5091T>A)
c.779T>A (p.Val260Glu)
c.866T>A (p.Val289Glu)
c.521T>A (p.Val174Glu)
c.869T>A (p.Val290Glu)
c.767T>A (p.Val256Glu)
c.710T>A (p.Val237Glu)
c.773T>A (p.Val258Glu)
c.761T>A (p.Val254Glu)
2g.144403942C>ACA348714605ZEB2c.*630G>T (n.*630G>T)
c.4G>T (p.Val2Leu)
c.781G>T (p.Val261Leu)
n.750G>T
c.445G>T (p.Val149Leu)
c.*498G>T (n.*498G>T)
n.881G>T
c.-133-5092G>T (n.-133-5092G>T)
c.778G>T (p.Val260Leu)
c.865G>T (p.Val289Leu)
c.520G>T (p.Val174Leu)
c.868G>T (p.Val290Leu)
c.766G>T (p.Val256Leu)
c.709G>T (p.Val237Leu)
c.772G>T (p.Val258Leu)
c.760G>T (p.Val254Leu)
2g.144403942C>GCA348714606ZEB2c.*630G>C (n.*630G>C)
c.4G>C (p.Val2Leu)
c.781G>C (p.Val261Leu)
n.750G>C
c.445G>C (p.Val149Leu)
c.*498G>C (n.*498G>C)
n.881G>C
c.-133-5092G>C (n.-133-5092G>C)
c.778G>C (p.Val260Leu)
c.865G>C (p.Val289Leu)
c.520G>C (p.Val174Leu)
c.868G>C (p.Val290Leu)
c.766G>C (p.Val256Leu)
c.709G>C (p.Val237Leu)
c.772G>C (p.Val258Leu)
c.760G>C (p.Val254Leu)
2g.144403942C>TCA348714604ZEB2c.*630G>A (n.*630G>A)
c.4G>A (p.Val2Met)
c.781G>A (p.Val261Met)
n.750G>A
c.445G>A (p.Val149Met)
c.*498G>A (n.*498G>A)
n.881G>A
c.-133-5092G>A (n.-133-5092G>A)
c.778G>A (p.Val260Met)
c.865G>A (p.Val289Met)
c.520G>A (p.Val174Met)
c.868G>A (p.Val290Met)
c.766G>A (p.Val256Met)
c.709G>A (p.Val237Met)
c.772G>A (p.Val258Met)
c.760G>A (p.Val254Met)
2g.144403943C>ACA348714607ZEB2c.*629G>T (n.*629G>T)
c.3G>T (p.Met1Ile)
c.780G>T (p.Met260Ile)
n.749G>T
c.444G>T (p.Met148Ile)
c.*497G>T (n.*497G>T)
n.880G>T
c.-133-5093G>T (n.-133-5093G>T)
c.777G>T (p.Met259Ile)
c.864G>T (p.Met288Ile)
c.519G>T (p.Met173Ile)
c.867G>T (p.Met289Ile)
c.765G>T (p.Met255Ile)
c.708G>T (p.Met236Ile)
c.771G>T (p.Met257Ile)
c.759G>T (p.Met253Ile)
2g.144403943C>GCA348714608ZEB2c.*629G>C (n.*629G>C)
c.3G>C (p.Met1Ile)
c.780G>C (p.Met260Ile)
n.749G>C
c.444G>C (p.Met148Ile)
c.*497G>C (n.*497G>C)
n.880G>C
c.-133-5093G>C (n.-133-5093G>C)
c.777G>C (p.Met259Ile)
c.864G>C (p.Met288Ile)
c.519G>C (p.Met173Ile)
c.867G>C (p.Met289Ile)
c.765G>C (p.Met255Ile)
c.708G>C (p.Met236Ile)
c.771G>C (p.Met257Ile)
c.759G>C (p.Met253Ile)
2g.144403943C>TCA348714609ZEB2c.*629G>A (n.*629G>A)
c.3G>A (p.Met1Ile)
c.780G>A (p.Met260Ile)
n.749G>A
c.444G>A (p.Met148Ile)
c.*497G>A (n.*497G>A)
n.880G>A
c.-133-5093G>A (n.-133-5093G>A)
c.777G>A (p.Met259Ile)
c.864G>A (p.Met288Ile)
c.519G>A (p.Met173Ile)
c.867G>A (p.Met289Ile)
c.765G>A (p.Met255Ile)
c.708G>A (p.Met236Ile)
c.771G>A (p.Met257Ile)
c.759G>A (p.Met253Ile)
 dbSNP
2g.144403944A>CCA348714610ZEB2c.*628T>G (n.*628T>G)
c.2T>G (p.Met1Arg)
c.779T>G (p.Met260Arg)
n.748T>G
c.443T>G (p.Met148Arg)
c.*496T>G (n.*496T>G)
n.879T>G
c.-133-5094T>G (n.-133-5094T>G)
c.776T>G (p.Met259Arg)
c.863T>G (p.Met288Arg)
c.518T>G (p.Met173Arg)
c.866T>G (p.Met289Arg)
c.764T>G (p.Met255Arg)
c.707T>G (p.Met236Arg)
c.770T>G (p.Met257Arg)
c.758T>G (p.Met253Arg)
2g.144403944A>GCA348714611ZEB2c.*628T>C (n.*628T>C)
c.2T>C (p.Met1Thr)
c.779T>C (p.Met260Thr)
n.748T>C
c.443T>C (p.Met148Thr)
c.*496T>C (n.*496T>C)
n.879T>C
c.-133-5094T>C (n.-133-5094T>C)
c.776T>C (p.Met259Thr)
c.863T>C (p.Met288Thr)
c.518T>C (p.Met173Thr)
c.866T>C (p.Met289Thr)
c.764T>C (p.Met255Thr)
c.707T>C (p.Met236Thr)
c.770T>C (p.Met257Thr)
c.758T>C (p.Met253Thr)
2g.144403944A>TCA348714612ZEB2c.*628T>A (n.*628T>A)
c.2T>A (p.Met1Lys)
c.779T>A (p.Met260Lys)
n.748T>A
c.443T>A (p.Met148Lys)
c.*496T>A (n.*496T>A)
n.879T>A
c.-133-5094T>A (n.-133-5094T>A)
c.776T>A (p.Met259Lys)
c.863T>A (p.Met288Lys)
c.518T>A (p.Met173Lys)
c.866T>A (p.Met289Lys)
c.764T>A (p.Met255Lys)
c.707T>A (p.Met236Lys)
c.770T>A (p.Met257Lys)
c.758T>A (p.Met253Lys)
2g.144403944dupCA2586965032ZEB2c.*628dup (n.*628dup)
c.2dup (p.Met1IlefsTer20)
c.779dup (p.Met260IlefsTer20)
n.748dup
c.443dup (p.Met148IlefsTer20)
c.*496dup (n.*496dup)
n.879dup
c.-133-5094dup (n.-133-5094dup)
c.776dup (p.Met259IlefsTer20)
c.863dup (p.Met288IlefsTer20)
c.518dup (p.Met173IlefsTer20)
c.866dup (p.Met289IlefsTer20)
c.764dup (p.Met255IlefsTer20)
c.707dup (p.Met236IlefsTer20)
c.770dup (p.Met257IlefsTer20)
c.758dup (p.Met253IlefsTer20)
2g.144403945T>ACA348714613ZEB2c.*627A>T (n.*627A>T)
c.1A>T (p.Met1Leu)
c.778A>T (p.Met260Leu)
n.747A>T
c.442A>T (p.Met148Leu)
c.*495A>T (n.*495A>T)
n.878A>T
c.-133-5095A>T (n.-133-5095A>T)
c.775A>T (p.Met259Leu)
c.862A>T (p.Met288Leu)
c.517A>T (p.Met173Leu)
c.865A>T (p.Met289Leu)
c.763A>T (p.Met255Leu)
c.706A>T (p.Met236Leu)
c.769A>T (p.Met257Leu)
c.757A>T (p.Met253Leu)
2g.144403945T>CCA348714615ZEB2c.*627A>G (n.*627A>G)
c.1A>G (p.Met1Val)
c.778A>G (p.Met260Val)
n.747A>G
c.442A>G (p.Met148Val)
c.*495A>G (n.*495A>G)
n.878A>G
c.-133-5095A>G (n.-133-5095A>G)
c.775A>G (p.Met259Val)
c.862A>G (p.Met288Val)
c.517A>G (p.Met173Val)
c.865A>G (p.Met289Val)
c.763A>G (p.Met255Val)
c.706A>G (p.Met236Val)
c.769A>G (p.Met257Val)
c.757A>G (p.Met253Val)
2g.144403945T>GCA348714614ZEB2c.*627A>C (n.*627A>C)
c.1A>C (p.Met1Leu)
c.778A>C (p.Met260Leu)
n.747A>C
c.442A>C (p.Met148Leu)
c.*495A>C (n.*495A>C)
n.878A>C
c.-133-5095A>C (n.-133-5095A>C)
c.775A>C (p.Met259Leu)
c.862A>C (p.Met288Leu)
c.517A>C (p.Met173Leu)
c.865A>C (p.Met289Leu)
c.763A>C (p.Met255Leu)
c.706A>C (p.Met236Leu)
c.769A>C (p.Met257Leu)
c.757A>C (p.Met253Leu)
2g.144403946A=CA1294887170ZEB2c.*626T= (n.*626T=)
c.-1T= (n.-1T=)
c.777T= (p.His259=)
n.746T=
c.441T= (p.His147=)
c.*494T= (n.*494T=)
n.877T=
c.-133-5096T= (n.-133-5096T=)
c.774T= (p.His258=)
c.861T= (p.His287=)
c.516T= (p.His172=)
c.864T= (p.His288=)
c.762T= (p.His254=)
c.705T= (p.His235=)
c.768T= (p.His256=)
c.756T= (p.His252=)
2g.144403946A>CCA348714616ZEB2c.*626T>G (n.*626T>G)
c.-1T>G (n.-1T>G)
c.777T>G (p.His259Gln)
n.746T>G
c.441T>G (p.His147Gln)
c.*494T>G (n.*494T>G)
n.877T>G
c.-133-5096T>G (n.-133-5096T>G)
c.774T>G (p.His258Gln)
c.861T>G (p.His287Gln)
c.516T>G (p.His172Gln)
c.864T>G (p.His288Gln)
c.762T>G (p.His254Gln)
c.705T>G (p.His235Gln)
c.768T>G (p.His256Gln)
c.756T>G (p.His252Gln)
2g.144403946A>GCA429218461ZEB2c.*626T>C (n.*626T>C)
c.-1T>C (n.-1T>C)
c.777T>C (p.His259=)
n.746T>C
c.441T>C (p.His147=)
c.*494T>C (n.*494T>C)
n.877T>C
c.-133-5096T>C (n.-133-5096T>C)
c.774T>C (p.His258=)
c.861T>C (p.His287=)
c.516T>C (p.His172=)
c.864T>C (p.His288=)
c.762T>C (p.His254=)
c.705T>C (p.His235=)
c.768T>C (p.His256=)
c.756T>C (p.His252=)
 ClinVar dbSNP COSMIC
2g.144403946A>TCA348714617ZEB2c.*626T>A (n.*626T>A)
c.-1T>A (n.-1T>A)
c.777T>A (p.His259Gln)
n.746T>A
c.441T>A (p.His147Gln)
c.*494T>A (n.*494T>A)
n.877T>A
c.-133-5096T>A (n.-133-5096T>A)
c.774T>A (p.His258Gln)
c.861T>A (p.His287Gln)
c.516T>A (p.His172Gln)
c.864T>A (p.His288Gln)
c.762T>A (p.His254Gln)
c.705T>A (p.His235Gln)
c.768T>A (p.His256Gln)
c.756T>A (p.His252Gln)
2g.144403947T>ACA348714618ZEB2c.*625A>T (n.*625A>T)
c.-2A>T (n.-2A>T)
c.776A>T (p.His259Leu)
n.745A>T
c.440A>T (p.His147Leu)
c.*493A>T (n.*493A>T)
n.876A>T
c.-133-5097A>T (n.-133-5097A>T)
c.773A>T (p.His258Leu)
c.860A>T (p.His287Leu)
c.515A>T (p.His172Leu)
c.863A>T (p.His288Leu)
c.761A>T (p.His254Leu)
c.704A>T (p.His235Leu)
c.767A>T (p.His256Leu)
c.755A>T (p.His252Leu)
2g.144403947T>CCA348714619ZEB2c.*625A>G (n.*625A>G)
c.-2A>G (n.-2A>G)
c.776A>G (p.His259Arg)
n.745A>G
c.440A>G (p.His147Arg)
c.*493A>G (n.*493A>G)
n.876A>G
c.-133-5097A>G (n.-133-5097A>G)
c.773A>G (p.His258Arg)
c.860A>G (p.His287Arg)
c.515A>G (p.His172Arg)
c.863A>G (p.His288Arg)
c.761A>G (p.His254Arg)
c.704A>G (p.His235Arg)
c.767A>G (p.His256Arg)
c.755A>G (p.His252Arg)
2g.144403947T>GCA348714620ZEB2c.*625A>C (n.*625A>C)
c.-2A>C (n.-2A>C)
c.776A>C (p.His259Pro)
n.745A>C
c.440A>C (p.His147Pro)
c.*493A>C (n.*493A>C)
n.876A>C
c.-133-5097A>C (n.-133-5097A>C)
c.773A>C (p.His258Pro)
c.860A>C (p.His287Pro)
c.515A>C (p.His172Pro)
c.863A>C (p.His288Pro)
c.761A>C (p.His254Pro)
c.704A>C (p.His235Pro)
c.767A>C (p.His256Pro)
c.755A>C (p.His252Pro)
2g.144403947dupCA1139657220ZEB2c.*625dup (n.*625dup)
c.-2dup (n.-2dup)
c.776dup (p.His259GlnfsTer21)
n.745dup
c.440dup (p.His147GlnfsTer21)
c.*493dup (n.*493dup)
n.876dup
c.-133-5097dup (n.-133-5097dup)
c.773dup (p.His258GlnfsTer21)
c.860dup (p.His287GlnfsTer21)
c.515dup (p.His172GlnfsTer21)
c.863dup (p.His288GlnfsTer21)
c.761dup (p.His254GlnfsTer21)
c.704dup (p.His235GlnfsTer21)
c.767dup (p.His256GlnfsTer21)
c.755dup (p.His252GlnfsTer21)
 ClinVar dbSNP
2g.144403948G>ACA348714622ZEB2c.*624C>T (n.*624C>T)
c.-3C>T (n.-3C>T)
c.775C>T (p.His259Tyr)
n.744C>T
c.439C>T (p.His147Tyr)
c.*492C>T (n.*492C>T)
n.875C>T
c.-133-5098C>T (n.-133-5098C>T)
c.772C>T (p.His258Tyr)
c.859C>T (p.His287Tyr)
c.514C>T (p.His172Tyr)
c.862C>T (p.His288Tyr)
c.760C>T (p.His254Tyr)
c.703C>T (p.His235Tyr)
c.766C>T (p.His256Tyr)
c.754C>T (p.His252Tyr)
 COSMIC
2g.144403948G>CCA348714623ZEB2c.*624C>G (n.*624C>G)
c.-3C>G (n.-3C>G)
c.775C>G (p.His259Asp)
n.744C>G
c.439C>G (p.His147Asp)
c.*492C>G (n.*492C>G)
n.875C>G
c.-133-5098C>G (n.-133-5098C>G)
c.772C>G (p.His258Asp)
c.859C>G (p.His287Asp)
c.514C>G (p.His172Asp)
c.862C>G (p.His288Asp)
c.760C>G (p.His254Asp)
c.703C>G (p.His235Asp)
c.766C>G (p.His256Asp)
c.754C>G (p.His252Asp)
2g.144403948G>TCA348714621ZEB2c.*624C>A (n.*624C>A)
c.-3C>A (n.-3C>A)
c.775C>A (p.His259Asn)
n.744C>A
c.439C>A (p.His147Asn)
c.*492C>A (n.*492C>A)
n.875C>A
c.-133-5098C>A (n.-133-5098C>A)
c.772C>A (p.His258Asn)
c.859C>A (p.His287Asn)
c.514C>A (p.His172Asn)
c.862C>A (p.His288Asn)
c.760C>A (p.His254Asn)
c.703C>A (p.His235Asn)
c.766C>A (p.His256Asn)
c.754C>A (p.His252Asn)
2g.144403949C>ACA429218465ZEB2c.*623G>T (n.*623G>T)
c.-4G>T (n.-4G>T)
c.774G>T (p.Arg258=)
n.743G>T
c.438G>T (p.Arg146=)
c.*491G>T (n.*491G>T)
n.874G>T
c.-133-5099G>T (n.-133-5099G>T)
c.771G>T (p.Arg257=)
c.858G>T (p.Arg286=)
c.513G>T (p.Arg171=)
c.861G>T (p.Arg287=)
c.759G>T (p.Arg253=)
c.702G>T (p.Arg234=)
c.765G>T (p.Arg255=)
c.753G>T (p.Arg251=)
 gnomAD v4
2g.144403949C>GCA429218463ZEB2c.*623G>C (n.*623G>C)
c.-4G>C (n.-4G>C)
c.774G>C (p.Arg258=)
n.743G>C
c.438G>C (p.Arg146=)
c.*491G>C (n.*491G>C)
n.874G>C
c.-133-5099G>C (n.-133-5099G>C)
c.771G>C (p.Arg257=)
c.858G>C (p.Arg286=)
c.513G>C (p.Arg171=)
c.861G>C (p.Arg287=)
c.759G>C (p.Arg253=)
c.702G>C (p.Arg234=)
c.765G>C (p.Arg255=)
c.753G>C (p.Arg251=)
2g.144403949C>TCA429218464ZEB2c.*623G>A (n.*623G>A)
c.-4G>A (n.-4G>A)
c.774G>A (p.Arg258=)
n.743G>A
c.438G>A (p.Arg146=)
c.*491G>A (n.*491G>A)
n.874G>A
c.-133-5099G>A (n.-133-5099G>A)
c.771G>A (p.Arg257=)
c.858G>A (p.Arg286=)
c.513G>A (p.Arg171=)
c.861G>A (p.Arg287=)
c.759G>A (p.Arg253=)
c.702G>A (p.Arg234=)
c.765G>A (p.Arg255=)
c.753G>A (p.Arg251=)
2g.144403950C>ACA348714624ZEB2c.*622G>T (n.*622G>T)
c.-5G>T (n.-5G>T)
c.773G>T (p.Arg258Leu)
n.742G>T
c.437G>T (p.Arg146Leu)
c.*490G>T (n.*490G>T)
n.873G>T
c.-133-5100G>T (n.-133-5100G>T)
c.770G>T (p.Arg257Leu)
c.857G>T (p.Arg286Leu)
c.512G>T (p.Arg171Leu)
c.860G>T (p.Arg287Leu)
c.758G>T (p.Arg253Leu)
c.701G>T (p.Arg234Leu)
c.764G>T (p.Arg255Leu)
c.752G>T (p.Arg251Leu)
2g.144403950C=CA1294887171ZEB2c.*622G= (n.*622G=)
c.-5G= (n.-5G=)
c.773G= (p.Arg258=)
n.742G=
c.437G= (p.Arg146=)
c.*490G= (n.*490G=)
n.873G=
c.-133-5100G= (n.-133-5100G=)
c.770G= (p.Arg257=)
c.857G= (p.Arg286=)
c.512G= (p.Arg171=)
c.860G= (p.Arg287=)
c.758G= (p.Arg253=)
c.701G= (p.Arg234=)
c.764G= (p.Arg255=)
c.752G= (p.Arg251=)
2g.144403950C>GCA348714625ZEB2c.*622G>C (n.*622G>C)
c.-5G>C (n.-5G>C)
c.773G>C (p.Arg258Pro)
n.742G>C
c.437G>C (p.Arg146Pro)
c.*490G>C (n.*490G>C)
n.873G>C
c.-133-5100G>C (n.-133-5100G>C)
c.770G>C (p.Arg257Pro)
c.857G>C (p.Arg286Pro)
c.512G>C (p.Arg171Pro)
c.860G>C (p.Arg287Pro)
c.758G>C (p.Arg253Pro)
c.701G>C (p.Arg234Pro)
c.764G>C (p.Arg255Pro)
c.752G>C (p.Arg251Pro)
2g.144403950C>TCA246746ZEB2c.*622G>A (n.*622G>A)
c.-5G>A (n.-5G>A)
c.773G>A (p.Arg258Gln)
n.742G>A
c.437G>A (p.Arg146Gln)
c.*490G>A (n.*490G>A)
n.873G>A
c.-133-5100G>A (n.-133-5100G>A)
c.770G>A (p.Arg257Gln)
c.857G>A (p.Arg286Gln)
c.512G>A (p.Arg171Gln)
c.860G>A (p.Arg287Gln)
c.758G>A (p.Arg253Gln)
c.701G>A (p.Arg234Gln)
c.764G>A (p.Arg255Gln)
c.752G>A (p.Arg251Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.144403951G>ACA348714626ZEB2c.*621C>T (n.*621C>T)
c.-6C>T (n.-6C>T)
c.772C>T (p.Arg258Trp)
n.741C>T
c.436C>T (p.Arg146Trp)
c.*489C>T (n.*489C>T)
n.872C>T
c.-133-5101C>T (n.-133-5101C>T)
c.769C>T (p.Arg257Trp)
c.856C>T (p.Arg286Trp)
c.511C>T (p.Arg171Trp)
c.859C>T (p.Arg287Trp)
c.757C>T (p.Arg253Trp)
c.700C>T (p.Arg234Trp)
c.763C>T (p.Arg255Trp)
c.751C>T (p.Arg251Trp)
 gnomAD v4 COSMIC
2g.144403951G>CCA348714627ZEB2c.*621C>G (n.*621C>G)
c.-6C>G (n.-6C>G)
c.772C>G (p.Arg258Gly)
n.741C>G
c.436C>G (p.Arg146Gly)
c.*489C>G (n.*489C>G)
n.872C>G
c.-133-5101C>G (n.-133-5101C>G)
c.769C>G (p.Arg257Gly)
c.856C>G (p.Arg286Gly)
c.511C>G (p.Arg171Gly)
c.859C>G (p.Arg287Gly)
c.757C>G (p.Arg253Gly)
c.700C>G (p.Arg234Gly)
c.763C>G (p.Arg255Gly)
c.751C>G (p.Arg251Gly)
2g.144403951G>TCA429218467ZEB2c.*621C>A (n.*621C>A)
c.-6C>A (n.-6C>A)
c.772C>A (p.Arg258=)
n.741C>A
c.436C>A (p.Arg146=)
c.*489C>A (n.*489C>A)
n.872C>A
c.-133-5101C>A (n.-133-5101C>A)
c.769C>A (p.Arg257=)
c.856C>A (p.Arg286=)
c.511C>A (p.Arg171=)
c.859C>A (p.Arg287=)
c.757C>A (p.Arg253=)
c.700C>A (p.Arg234=)
c.763C>A (p.Arg255=)
c.751C>A (p.Arg251=)
 gnomAD v4 COSMIC
2g.144403951_144403953delinsGCTCA1294887172ZEB2c.*619_*621delinsAGC (n.*619_*621delinsAGC)
c.-8_-6delinsAGC (n.-8_-6delinsAGC)
c.770_772delinsAGC (p.Glu257=)
n.739_741delinsAGC
c.434_436delinsAGC (p.Glu145=)
c.*487_*489delinsAGC (n.*487_*489delinsAGC)
n.870_872delinsAGC
c.-133-5103_-133-5101delinsAGC (n.-133-5103_-133-5101delinsAGC)
c.767_769delinsAGC (p.Glu256=)
c.854_856delinsAGC (p.Glu285=)
c.509_511delinsAGC (p.Glu170=)
c.857_859delinsAGC (p.Glu286=)
c.755_757delinsAGC (p.Glu252=)
c.698_700delinsAGC (p.Glu233=)
c.761_763delinsAGC (p.Glu254=)
c.749_751delinsAGC (p.Glu250=)
2g.144403952C>ACA348714628ZEB2c.*620G>T (n.*620G>T)
c.-7G>T (n.-7G>T)
c.771G>T (p.Glu257Asp)
n.740G>T
c.435G>T (p.Glu145Asp)
c.*488G>T (n.*488G>T)
n.871G>T
c.-133-5102G>T (n.-133-5102G>T)
c.768G>T (p.Glu256Asp)
c.855G>T (p.Glu285Asp)
c.510G>T (p.Glu170Asp)
c.858G>T (p.Glu286Asp)
c.756G>T (p.Glu252Asp)
c.699G>T (p.Glu233Asp)
c.762G>T (p.Glu254Asp)
c.750G>T (p.Glu250Asp)
2g.144403952C>GCA348714629ZEB2c.*620G>C (n.*620G>C)
c.-7G>C (n.-7G>C)
c.771G>C (p.Glu257Asp)
n.740G>C
c.435G>C (p.Glu145Asp)
c.*488G>C (n.*488G>C)
n.871G>C
c.-133-5102G>C (n.-133-5102G>C)
c.768G>C (p.Glu256Asp)
c.855G>C (p.Glu285Asp)
c.510G>C (p.Glu170Asp)
c.858G>C (p.Glu286Asp)
c.756G>C (p.Glu252Asp)
c.699G>C (p.Glu233Asp)
c.762G>C (p.Glu254Asp)
c.750G>C (p.Glu250Asp)
2g.144403952C>TCA429218468ZEB2c.*620G>A (n.*620G>A)
c.-7G>A (n.-7G>A)
c.771G>A (p.Glu257=)
n.740G>A
c.435G>A (p.Glu145=)
c.*488G>A (n.*488G>A)
n.871G>A
c.-133-5102G>A (n.-133-5102G>A)
c.768G>A (p.Glu256=)
c.855G>A (p.Glu285=)
c.510G>A (p.Glu170=)
c.858G>A (p.Glu286=)
c.756G>A (p.Glu252=)
c.699G>A (p.Glu233=)
c.762G>A (p.Glu254=)
c.750G>A (p.Glu250=)
2g.144403953_144403954delCA915942801ZEB2c.*619_*620del (n.*619_*620del)
c.-8_-7del (n.-8_-7del)
c.770_771del (p.Glu257AlafsTer22)
n.739_740del
c.434_435del (p.Glu145AlafsTer22)
c.*487_*488del (n.*487_*488del)
n.870_871del
c.-133-5103_-133-5102del (n.-133-5103_-133-5102del)
c.767_768del (p.Glu256AlafsTer22)
c.854_855del (p.Glu285AlafsTer22)
c.509_510del (p.Glu170AlafsTer22)
c.857_858del (p.Glu286AlafsTer22)
c.755_756del (p.Glu252AlafsTer22)
c.698_699del (p.Glu233AlafsTer22)
c.761_762del (p.Glu254AlafsTer22)
c.749_750del (p.Glu250AlafsTer22)
 ClinVar dbSNP
2g.144403953T>ACA348714630ZEB2c.*619A>T (n.*619A>T)
c.-8A>T (n.-8A>T)
c.770A>T (p.Glu257Val)
n.739A>T
c.434A>T (p.Glu145Val)
c.*487A>T (n.*487A>T)
n.870A>T
c.-133-5103A>T (n.-133-5103A>T)
c.767A>T (p.Glu256Val)
c.854A>T (p.Glu285Val)
c.509A>T (p.Glu170Val)
c.857A>T (p.Glu286Val)
c.755A>T (p.Glu252Val)
c.698A>T (p.Glu233Val)
c.761A>T (p.Glu254Val)
c.749A>T (p.Glu250Val)
2g.144403953T>CCA348714631ZEB2c.*619A>G (n.*619A>G)
c.-8A>G (n.-8A>G)
c.770A>G (p.Glu257Gly)
n.739A>G
c.434A>G (p.Glu145Gly)
c.*487A>G (n.*487A>G)
n.870A>G
c.-133-5103A>G (n.-133-5103A>G)
c.767A>G (p.Glu256Gly)
c.854A>G (p.Glu285Gly)
c.509A>G (p.Glu170Gly)
c.857A>G (p.Glu286Gly)
c.755A>G (p.Glu252Gly)
c.698A>G (p.Glu233Gly)
c.761A>G (p.Glu254Gly)
c.749A>G (p.Glu250Gly)
2g.144403953T>GCA348714632ZEB2c.*619A>C (n.*619A>C)
c.-8A>C (n.-8A>C)
c.770A>C (p.Glu257Ala)
n.739A>C
c.434A>C (p.Glu145Ala)
c.*487A>C (n.*487A>C)
n.870A>C
c.-133-5103A>C (n.-133-5103A>C)
c.767A>C (p.Glu256Ala)
c.854A>C (p.Glu285Ala)
c.509A>C (p.Glu170Ala)
c.857A>C (p.Glu286Ala)
c.755A>C (p.Glu252Ala)
c.698A>C (p.Glu233Ala)
c.761A>C (p.Glu254Ala)
c.749A>C (p.Glu250Ala)
2g.144403954C>ACA348714633ZEB2c.*618G>T (n.*618G>T)
c.-9G>T (n.-9G>T)
c.769G>T (p.Glu257Ter)
n.738G>T
c.433G>T (p.Glu145Ter)
c.*486G>T (n.*486G>T)
n.869G>T
c.-133-5104G>T (n.-133-5104G>T)
c.766G>T (p.Glu256Ter)
c.853G>T (p.Glu285Ter)
c.508G>T (p.Glu170Ter)
c.856G>T (p.Glu286Ter)
c.754G>T (p.Glu252Ter)
c.697G>T (p.Glu233Ter)
c.760G>T (p.Glu254Ter)
c.748G>T (p.Glu250Ter)
 ClinVar dbSNP
2g.144403954C=CA1294887173ZEB2c.*618G= (n.*618G=)
c.-9G= (n.-9G=)
c.769G= (p.Glu257=)
n.738G=
c.433G= (p.Glu145=)
c.*486G= (n.*486G=)
n.869G=
c.-133-5104G= (n.-133-5104G=)
c.766G= (p.Glu256=)
c.853G= (p.Glu285=)
c.508G= (p.Glu170=)
c.856G= (p.Glu286=)
c.754G= (p.Glu252=)
c.697G= (p.Glu233=)
c.760G= (p.Glu254=)
c.748G= (p.Glu250=)
2g.144403954C>GCA348714634ZEB2c.*618G>C (n.*618G>C)
c.-9G>C (n.-9G>C)
c.769G>C (p.Glu257Gln)
n.738G>C
c.433G>C (p.Glu145Gln)
c.*486G>C (n.*486G>C)
n.869G>C
c.-133-5104G>C (n.-133-5104G>C)
c.766G>C (p.Glu256Gln)
c.853G>C (p.Glu285Gln)
c.508G>C (p.Glu170Gln)
c.856G>C (p.Glu286Gln)
c.754G>C (p.Glu252Gln)
c.697G>C (p.Glu233Gln)
c.760G>C (p.Glu254Gln)
c.748G>C (p.Glu250Gln)
2g.144403954C>TCA348714635ZEB2c.*618G>A (n.*618G>A)
c.-9G>A (n.-9G>A)
c.769G>A (p.Glu257Lys)
n.738G>A
c.433G>A (p.Glu145Lys)
c.*486G>A (n.*486G>A)
n.869G>A
c.-133-5104G>A (n.-133-5104G>A)
c.766G>A (p.Glu256Lys)
c.853G>A (p.Glu285Lys)
c.508G>A (p.Glu170Lys)
c.856G>A (p.Glu286Lys)
c.754G>A (p.Glu252Lys)
c.697G>A (p.Glu233Lys)
c.760G>A (p.Glu254Lys)
c.748G>A (p.Glu250Lys)
 ClinVar dbSNP
2g.144403955G>ACA297554ZEB2c.*617C>T (n.*617C>T)
c.-10C>T (n.-10C>T)
c.768C>T (p.Leu256=)
n.737C>T
c.432C>T (p.Leu144=)
c.*485C>T (n.*485C>T)
n.868C>T
c.-133-5105C>T (n.-133-5105C>T)
c.765C>T (p.Leu255=)
c.852C>T (p.Leu284=)
c.507C>T (p.Leu169=)
c.855C>T (p.Leu285=)
c.753C>T (p.Leu251=)
c.696C>T (p.Leu232=)
c.759C>T (p.Leu253=)
c.747C>T (p.Leu249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144403955G>CCA429218472ZEB2c.*617C>G (n.*617C>G)
c.-10C>G (n.-10C>G)
c.768C>G (p.Leu256=)
n.737C>G
c.432C>G (p.Leu144=)
c.*485C>G (n.*485C>G)
n.868C>G
c.-133-5105C>G (n.-133-5105C>G)
c.765C>G (p.Leu255=)
c.852C>G (p.Leu284=)
c.507C>G (p.Leu169=)
c.855C>G (p.Leu285=)
c.753C>G (p.Leu251=)
c.696C>G (p.Leu232=)
c.759C>G (p.Leu253=)
c.747C>G (p.Leu249=)
 gnomAD v4
2g.144403955G=CA1294887174ZEB2c.*617C= (n.*617C=)
c.-10C= (n.-10C=)
c.768C= (p.Leu256=)
n.737C=
c.432C= (p.Leu144=)
c.*485C= (n.*485C=)
n.868C=
c.-133-5105C= (n.-133-5105C=)
c.765C= (p.Leu255=)
c.852C= (p.Leu284=)
c.507C= (p.Leu169=)
c.855C= (p.Leu285=)
c.753C= (p.Leu251=)
c.696C= (p.Leu232=)
c.759C= (p.Leu253=)
c.747C= (p.Leu249=)
2g.144403955G>TCA429218471ZEB2c.*617C>A (n.*617C>A)
c.-10C>A (n.-10C>A)
c.768C>A (p.Leu256=)
n.737C>A
c.432C>A (p.Leu144=)
c.*485C>A (n.*485C>A)
n.868C>A
c.-133-5105C>A (n.-133-5105C>A)
c.765C>A (p.Leu255=)
c.852C>A (p.Leu284=)
c.507C>A (p.Leu169=)
c.855C>A (p.Leu285=)
c.753C>A (p.Leu251=)
c.696C>A (p.Leu232=)
c.759C>A (p.Leu253=)
c.747C>A (p.Leu249=)
2g.144403956A=CA1294887175ZEB2c.*616T= (n.*616T=)
c.-11T= (n.-11T=)
c.767T= (p.Leu256=)
n.736T=
c.431T= (p.Leu144=)
c.*484T= (n.*484T=)
n.867T=
c.-133-5106T= (n.-133-5106T=)
c.764T= (p.Leu255=)
c.851T= (p.Leu284=)
c.506T= (p.Leu169=)
c.854T= (p.Leu285=)
c.752T= (p.Leu251=)
c.695T= (p.Leu232=)
c.758T= (p.Leu253=)
c.746T= (p.Leu249=)
2g.144403956A>CCA348714637ZEB2c.*616T>G (n.*616T>G)
c.-11T>G (n.-11T>G)
c.767T>G (p.Leu256Arg)
n.736T>G
c.431T>G (p.Leu144Arg)
c.*484T>G (n.*484T>G)
n.867T>G
c.-133-5106T>G (n.-133-5106T>G)
c.764T>G (p.Leu255Arg)
c.851T>G (p.Leu284Arg)
c.506T>G (p.Leu169Arg)
c.854T>G (p.Leu285Arg)
c.752T>G (p.Leu251Arg)
c.695T>G (p.Leu232Arg)
c.758T>G (p.Leu253Arg)
c.746T>G (p.Leu249Arg)
2g.144403956A>GCA1898420ZEB2c.*616T>C (n.*616T>C)
c.-11T>C (n.-11T>C)
c.767T>C (p.Leu256Pro)
n.736T>C
c.431T>C (p.Leu144Pro)
c.*484T>C (n.*484T>C)
n.867T>C
c.-133-5106T>C (n.-133-5106T>C)
c.764T>C (p.Leu255Pro)
c.851T>C (p.Leu284Pro)
c.506T>C (p.Leu169Pro)
c.854T>C (p.Leu285Pro)
c.752T>C (p.Leu251Pro)
c.695T>C (p.Leu232Pro)
c.758T>C (p.Leu253Pro)
c.746T>C (p.Leu249Pro)
 dbSNP ExAC gnomAD v2
2g.144403956A>TCA348714636ZEB2c.*616T>A (n.*616T>A)
c.-11T>A (n.-11T>A)
c.767T>A (p.Leu256His)
n.736T>A
c.431T>A (p.Leu144His)
c.*484T>A (n.*484T>A)
n.867T>A
c.-133-5106T>A (n.-133-5106T>A)
c.764T>A (p.Leu255His)
c.851T>A (p.Leu284His)
c.506T>A (p.Leu169His)
c.854T>A (p.Leu285His)
c.752T>A (p.Leu251His)
c.695T>A (p.Leu232His)
c.758T>A (p.Leu253His)
c.746T>A (p.Leu249His)
2g.144403957G>ACA348714638ZEB2c.*615C>T (n.*615C>T)
c.-12C>T (n.-12C>T)
c.766C>T (p.Leu256Phe)
n.735C>T
c.430C>T (p.Leu144Phe)
c.*483C>T (n.*483C>T)
n.866C>T
c.-133-5107C>T (n.-133-5107C>T)
c.763C>T (p.Leu255Phe)
c.850C>T (p.Leu284Phe)
c.505C>T (p.Leu169Phe)
c.853C>T (p.Leu285Phe)
c.751C>T (p.Leu251Phe)
c.694C>T (p.Leu232Phe)
c.757C>T (p.Leu253Phe)
c.745C>T (p.Leu249Phe)
2g.144403957G>CCA348714639ZEB2c.*615C>G (n.*615C>G)
c.-12C>G (n.-12C>G)
c.766C>G (p.Leu256Val)
n.735C>G
c.430C>G (p.Leu144Val)
c.*483C>G (n.*483C>G)
n.866C>G
c.-133-5107C>G (n.-133-5107C>G)
c.763C>G (p.Leu255Val)
c.850C>G (p.Leu284Val)
c.505C>G (p.Leu169Val)
c.853C>G (p.Leu285Val)
c.751C>G (p.Leu251Val)
c.694C>G (p.Leu232Val)
c.757C>G (p.Leu253Val)
c.745C>G (p.Leu249Val)
2g.144403957G>TCA348714640ZEB2c.*615C>A (n.*615C>A)
c.-12C>A (n.-12C>A)
c.766C>A (p.Leu256Ile)
n.735C>A
c.430C>A (p.Leu144Ile)
c.*483C>A (n.*483C>A)
n.866C>A
c.-133-5107C>A (n.-133-5107C>A)
c.763C>A (p.Leu255Ile)
c.850C>A (p.Leu284Ile)
c.505C>A (p.Leu169Ile)
c.853C>A (p.Leu285Ile)
c.751C>A (p.Leu251Ile)
c.694C>A (p.Leu232Ile)
c.757C>A (p.Leu253Ile)
c.745C>A (p.Leu249Ile)
2g.144403958C>ACA348714641ZEB2c.*614G>T (n.*614G>T)
c.-13G>T (n.-13G>T)
c.765G>T (p.Gln255His)
n.734G>T
c.429G>T (p.Gln143His)
c.*482G>T (n.*482G>T)
n.865G>T
c.-133-5108G>T (n.-133-5108G>T)
c.762G>T (p.Gln254His)
c.849G>T (p.Gln283His)
c.504G>T (p.Gln168His)
c.852G>T (p.Gln284His)
c.750G>T (p.Gln250His)
c.693G>T (p.Gln231His)
c.756G>T (p.Gln252His)
c.744G>T (p.Gln248His)
2g.144403958C>GCA348714642ZEB2c.*614G>C (n.*614G>C)
c.-13G>C (n.-13G>C)
c.765G>C (p.Gln255His)
n.734G>C
c.429G>C (p.Gln143His)
c.*482G>C (n.*482G>C)
n.865G>C
c.-133-5108G>C (n.-133-5108G>C)
c.762G>C (p.Gln254His)
c.849G>C (p.Gln283His)
c.504G>C (p.Gln168His)
c.852G>C (p.Gln284His)
c.750G>C (p.Gln250His)
c.693G>C (p.Gln231His)
c.756G>C (p.Gln252His)
c.744G>C (p.Gln248His)
2g.144403958C>TCA429218476ZEB2c.*614G>A (n.*614G>A)
c.-13G>A (n.-13G>A)
c.765G>A (p.Gln255=)
n.734G>A
c.429G>A (p.Gln143=)
c.*482G>A (n.*482G>A)
n.865G>A
c.-133-5108G>A (n.-133-5108G>A)
c.762G>A (p.Gln254=)
c.849G>A (p.Gln283=)
c.504G>A (p.Gln168=)
c.852G>A (p.Gln284=)
c.750G>A (p.Gln250=)
c.693G>A (p.Gln231=)
c.756G>A (p.Gln252=)
c.744G>A (p.Gln248=)
2g.144403959T>ACA348714643ZEB2c.*613A>T (n.*613A>T)
c.-14A>T (n.-14A>T)
c.764A>T (p.Gln255Leu)
n.733A>T
c.428A>T (p.Gln143Leu)
c.*481A>T (n.*481A>T)
n.864A>T
c.-133-5109A>T (n.-133-5109A>T)
c.761A>T (p.Gln254Leu)
c.848A>T (p.Gln283Leu)
c.503A>T (p.Gln168Leu)
c.851A>T (p.Gln284Leu)
c.749A>T (p.Gln250Leu)
c.692A>T (p.Gln231Leu)
c.755A>T (p.Gln252Leu)
c.743A>T (p.Gln248Leu)
2g.144403959T>CCA348714644ZEB2c.*613A>G (n.*613A>G)
c.-14A>G (n.-14A>G)
c.764A>G (p.Gln255Arg)
n.733A>G
c.428A>G (p.Gln143Arg)
c.*481A>G (n.*481A>G)
n.864A>G
c.-133-5109A>G (n.-133-5109A>G)
c.761A>G (p.Gln254Arg)
c.848A>G (p.Gln283Arg)
c.503A>G (p.Gln168Arg)
c.851A>G (p.Gln284Arg)
c.749A>G (p.Gln250Arg)
c.692A>G (p.Gln231Arg)
c.755A>G (p.Gln252Arg)
c.743A>G (p.Gln248Arg)
2g.144403959T>GCA348714645ZEB2c.*613A>C (n.*613A>C)
c.-14A>C (n.-14A>C)
c.764A>C (p.Gln255Pro)
n.733A>C
c.428A>C (p.Gln143Pro)
c.*481A>C (n.*481A>C)
n.864A>C
c.-133-5109A>C (n.-133-5109A>C)
c.761A>C (p.Gln254Pro)
c.848A>C (p.Gln283Pro)
c.503A>C (p.Gln168Pro)
c.851A>C (p.Gln284Pro)
c.749A>C (p.Gln250Pro)
c.692A>C (p.Gln231Pro)
c.755A>C (p.Gln252Pro)
c.743A>C (p.Gln248Pro)
2g.144403960G>ACA348714646ZEB2c.*612C>T (n.*612C>T)
c.-15C>T (n.-15C>T)
c.763C>T (p.Gln255Ter)
n.732C>T
c.427C>T (p.Gln143Ter)
c.*480C>T (n.*480C>T)
n.863C>T
c.-133-5110C>T (n.-133-5110C>T)
c.760C>T (p.Gln254Ter)
c.847C>T (p.Gln283Ter)
c.502C>T (p.Gln168Ter)
c.850C>T (p.Gln284Ter)
c.748C>T (p.Gln250Ter)
c.691C>T (p.Gln231Ter)
c.754C>T (p.Gln252Ter)
c.742C>T (p.Gln248Ter)
2g.144403960G>CCA348714647ZEB2c.*612C>G (n.*612C>G)
c.-15C>G (n.-15C>G)
c.763C>G (p.Gln255Glu)
n.732C>G
c.427C>G (p.Gln143Glu)
c.*480C>G (n.*480C>G)
n.863C>G
c.-133-5110C>G (n.-133-5110C>G)
c.760C>G (p.Gln254Glu)
c.847C>G (p.Gln283Glu)
c.502C>G (p.Gln168Glu)
c.850C>G (p.Gln284Glu)
c.748C>G (p.Gln250Glu)
c.691C>G (p.Gln231Glu)
c.754C>G (p.Gln252Glu)
c.742C>G (p.Gln248Glu)
2g.144403960G>TCA348714648ZEB2c.*612C>A (n.*612C>A)
c.-15C>A (n.-15C>A)
c.763C>A (p.Gln255Lys)
n.732C>A
c.427C>A (p.Gln143Lys)
c.*480C>A (n.*480C>A)
n.863C>A
c.-133-5110C>A (n.-133-5110C>A)
c.760C>A (p.Gln254Lys)
c.847C>A (p.Gln283Lys)
c.502C>A (p.Gln168Lys)
c.850C>A (p.Gln284Lys)
c.748C>A (p.Gln250Lys)
c.691C>A (p.Gln231Lys)
c.754C>A (p.Gln252Lys)
c.742C>A (p.Gln248Lys)
2g.144403962delCA2586965033ZEB2c.*612del (n.*612del)
c.-15del (n.-15del)
c.763del (p.Gln255SerfsTer7)
n.732del
c.427del (p.Gln143SerfsTer7)
c.*480del (n.*480del)
n.863del
c.-133-5110del (n.-133-5110del)
c.760del (p.Gln254SerfsTer7)
c.847del (p.Gln283SerfsTer7)
c.502del (p.Gln168SerfsTer7)
c.850del (p.Gln284SerfsTer7)
c.748del (p.Gln250SerfsTer7)
c.691del (p.Gln231SerfsTer7)
c.754del (p.Gln252SerfsTer7)
c.742del (p.Gln248SerfsTer7)
2g.144403961G>ACA429218478ZEB2c.*611C>T (n.*611C>T)
c.-16C>T (n.-16C>T)
c.762C>T (p.Thr254=)
n.731C>T
c.426C>T (p.Thr142=)
c.*479C>T (n.*479C>T)
n.862C>T
c.-133-5111C>T (n.-133-5111C>T)
c.759C>T (p.Thr253=)
c.846C>T (p.Thr282=)
c.501C>T (p.Thr167=)
c.849C>T (p.Thr283=)
c.747C>T (p.Thr249=)
c.690C>T (p.Thr230=)
c.753C>T (p.Thr251=)
c.741C>T (p.Thr247=)
 ClinVar dbSNP
2g.144403961G>CCA429218479ZEB2c.*611C>G (n.*611C>G)
c.-16C>G (n.-16C>G)
c.762C>G (p.Thr254=)
n.731C>G
c.426C>G (p.Thr142=)
c.*479C>G (n.*479C>G)
n.862C>G
c.-133-5111C>G (n.-133-5111C>G)
c.759C>G (p.Thr253=)
c.846C>G (p.Thr282=)
c.501C>G (p.Thr167=)
c.849C>G (p.Thr283=)
c.747C>G (p.Thr249=)
c.690C>G (p.Thr230=)
c.753C>G (p.Thr251=)
c.741C>G (p.Thr247=)
2g.144403961G=CA1294887177ZEB2c.*611C= (n.*611C=)
c.-16C= (n.-16C=)
c.762C= (p.Thr254=)
n.731C=
c.426C= (p.Thr142=)
c.*479C= (n.*479C=)
n.862C=
c.-133-5111C= (n.-133-5111C=)
c.759C= (p.Thr253=)
c.846C= (p.Thr282=)
c.501C= (p.Thr167=)
c.849C= (p.Thr283=)
c.747C= (p.Thr249=)
c.690C= (p.Thr230=)
c.753C= (p.Thr251=)
c.741C= (p.Thr247=)
2g.144403961G>TCA1898421ZEB2c.*611C>A (n.*611C>A)
c.-16C>A (n.-16C>A)
c.762C>A (p.Thr254=)
n.731C>A
c.426C>A (p.Thr142=)
c.*479C>A (n.*479C>A)
n.862C>A
c.-133-5111C>A (n.-133-5111C>A)
c.759C>A (p.Thr253=)
c.846C>A (p.Thr282=)
c.501C>A (p.Thr167=)
c.849C>A (p.Thr283=)
c.747C>A (p.Thr249=)
c.690C>A (p.Thr230=)
c.753C>A (p.Thr251=)
c.741C>A (p.Thr247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.144403961_144403963delinsGGTCA1294887176ZEB2c.*609_*611delinsACC (n.*609_*611delinsACC)
c.-18_-16delinsACC (n.-18_-16delinsACC)
c.760_762delinsACC (p.Thr254=)
n.729_731delinsACC
c.424_426delinsACC (p.Thr142=)
c.*477_*479delinsACC (n.*477_*479delinsACC)
n.860_862delinsACC
c.-133-5113_-133-5111delinsACC (n.-133-5113_-133-5111delinsACC)
c.757_759delinsACC (p.Thr253=)
c.844_846delinsACC (p.Thr282=)
c.499_501delinsACC (p.Thr167=)
c.847_849delinsACC (p.Thr283=)
c.745_747delinsACC (p.Thr249=)
c.688_690delinsACC (p.Thr230=)
c.751_753delinsACC (p.Thr251=)
c.739_741delinsACC (p.Thr247=)
2g.144403962G>ACA348714650ZEB2c.*610C>T (n.*610C>T)
c.-17C>T (n.-17C>T)
c.761C>T (p.Thr254Ile)
n.730C>T
c.425C>T (p.Thr142Ile)
c.*478C>T (n.*478C>T)
n.861C>T
c.-133-5112C>T (n.-133-5112C>T)
c.758C>T (p.Thr253Ile)
c.845C>T (p.Thr282Ile)
c.500C>T (p.Thr167Ile)
c.848C>T (p.Thr283Ile)
c.746C>T (p.Thr249Ile)
c.689C>T (p.Thr230Ile)
c.752C>T (p.Thr251Ile)
c.740C>T (p.Thr247Ile)
2g.144403962G>CCA348714649ZEB2c.*610C>G (n.*610C>G)
c.-17C>G (n.-17C>G)
c.761C>G (p.Thr254Ser)
n.730C>G
c.425C>G (p.Thr142Ser)
c.*478C>G (n.*478C>G)
n.861C>G
c.-133-5112C>G (n.-133-5112C>G)
c.758C>G (p.Thr253Ser)
c.845C>G (p.Thr282Ser)
c.500C>G (p.Thr167Ser)
c.848C>G (p.Thr283Ser)
c.746C>G (p.Thr249Ser)
c.689C>G (p.Thr230Ser)
c.752C>G (p.Thr251Ser)
c.740C>G (p.Thr247Ser)
2g.144403962G>TCA348714651ZEB2c.*610C>A (n.*610C>A)
c.-17C>A (n.-17C>A)
c.761C>A (p.Thr254Asn)
n.730C>A
c.425C>A (p.Thr142Asn)
c.*478C>A (n.*478C>A)
n.861C>A
c.-133-5112C>A (n.-133-5112C>A)
c.758C>A (p.Thr253Asn)
c.845C>A (p.Thr282Asn)
c.500C>A (p.Thr167Asn)
c.848C>A (p.Thr283Asn)
c.746C>A (p.Thr249Asn)
c.689C>A (p.Thr230Asn)
c.752C>A (p.Thr251Asn)
c.740C>A (p.Thr247Asn)
 COSMIC
2g.144403963_144403964dupCA253279ZEB2c.*609_*610dup (n.*609_*610dup)
c.-18_-17dup (n.-18_-17dup)
c.760_761dup (p.Gln255ProfsTer8)
n.729_730dup
c.424_425dup (p.Gln143ProfsTer8)
c.*477_*478dup (n.*477_*478dup)
n.860_861dup
c.-133-5113_-133-5112dup (n.-133-5113_-133-5112dup)
c.757_758dup (p.Gln254ProfsTer8)
c.844_845dup (p.Gln283ProfsTer8)
c.499_500dup (p.Gln168ProfsTer8)
c.847_848dup (p.Gln284ProfsTer8)
c.745_746dup (p.Gln250ProfsTer8)
c.688_689dup (p.Gln231ProfsTer8)
c.751_752dup (p.Gln252ProfsTer8)
c.739_740dup (p.Gln248ProfsTer8)
 ClinVar dbSNP
2g.144403963_144403964delCA658657064ZEB2c.*609_*610del (n.*609_*610del)
c.-18_-17del (n.-18_-17del)
c.760_761del (p.Thr254ProfsTer25)
n.729_730del
c.424_425del (p.Thr142ProfsTer25)
c.*477_*478del (n.*477_*478del)
n.860_861del
c.-133-5113_-133-5112del (n.-133-5113_-133-5112del)
c.757_758del (p.Thr253ProfsTer25)
c.844_845del (p.Thr282ProfsTer25)
c.499_500del (p.Thr167ProfsTer25)
c.847_848del (p.Thr283ProfsTer25)
c.745_746del (p.Thr249ProfsTer25)
c.688_689del (p.Thr230ProfsTer25)
c.751_752del (p.Thr251ProfsTer25)
c.739_740del (p.Thr247ProfsTer25)
 ClinVar dbSNP
2g.144403963T>ACA348714652ZEB2c.*609A>T (n.*609A>T)
c.-18A>T (n.-18A>T)
c.760A>T (p.Thr254Ser)
n.729A>T
c.424A>T (p.Thr142Ser)
c.*477A>T (n.*477A>T)
n.860A>T
c.-133-5113A>T (n.-133-5113A>T)
c.757A>T (p.Thr253Ser)
c.844A>T (p.Thr282Ser)
c.499A>T (p.Thr167Ser)
c.847A>T (p.Thr283Ser)
c.745A>T (p.Thr249Ser)
c.688A>T (p.Thr230Ser)
c.751A>T (p.Thr251Ser)
c.739A>T (p.Thr247Ser)
2g.144403963T>CCA348714653ZEB2c.*609A>G (n.*609A>G)
c.-18A>G (n.-18A>G)
c.760A>G (p.Thr254Ala)
n.729A>G
c.424A>G (p.Thr142Ala)
c.*477A>G (n.*477A>G)
n.860A>G
c.-133-5113A>G (n.-133-5113A>G)
c.757A>G (p.Thr253Ala)
c.844A>G (p.Thr282Ala)
c.499A>G (p.Thr167Ala)
c.847A>G (p.Thr283Ala)
c.745A>G (p.Thr249Ala)
c.688A>G (p.Thr230Ala)
c.751A>G (p.Thr251Ala)
c.739A>G (p.Thr247Ala)
 gnomAD v4
2g.144403963T>GCA348714654ZEB2c.*609A>C (n.*609A>C)
c.-18A>C (n.-18A>C)
c.760A>C (p.Thr254Pro)
n.729A>C
c.424A>C (p.Thr142Pro)
c.*477A>C (n.*477A>C)
n.860A>C
c.-133-5113A>C (n.-133-5113A>C)
c.757A>C (p.Thr253Pro)
c.844A>C (p.Thr282Pro)
c.499A>C (p.Thr167Pro)
c.847A>C (p.Thr283Pro)
c.745A>C (p.Thr249Pro)
c.688A>C (p.Thr230Pro)
c.751A>C (p.Thr251Pro)
c.739A>C (p.Thr247Pro)
 dbSNP
2g.144403963T=CA1294887178ZEB2c.*609A= (n.*609A=)
c.-18A= (n.-18A=)
c.760A= (p.Thr254=)
n.729A=
c.424A= (p.Thr142=)
c.*477A= (n.*477A=)
n.860A=
c.-133-5113A= (n.-133-5113A=)
c.757A= (p.Thr253=)
c.844A= (p.Thr282=)
c.499A= (p.Thr167=)
c.847A= (p.Thr283=)
c.745A= (p.Thr249=)
c.688A= (p.Thr230=)
c.751A= (p.Thr251=)
c.739A= (p.Thr247=)
2g.144403964G>ACA291665ZEB2c.*608C>T (n.*608C>T)
c.-19C>T (n.-19C>T)
c.759C>T (p.Arg253=)
n.728C>T
c.423C>T (p.Arg141=)
c.*476C>T (n.*476C>T)
n.859C>T
c.-133-5114C>T (n.-133-5114C>T)
c.756C>T (p.Arg252=)
c.843C>T (p.Arg281=)
c.498C>T (p.Arg166=)
c.846C>T (p.Arg282=)
c.744C>T (p.Arg248=)
c.687C>T (p.Arg229=)
c.750C>T (p.Arg250=)
c.738C>T (p.Arg246=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144403964G>CCA429218484ZEB2c.*608C>G (n.*608C>G)
c.-19C>G (n.-19C>G)
c.759C>G (p.Arg253=)
n.728C>G
c.423C>G (p.Arg141=)
c.*476C>G (n.*476C>G)
n.859C>G
c.-133-5114C>G (n.-133-5114C>G)
c.756C>G (p.Arg252=)
c.843C>G (p.Arg281=)
c.498C>G (p.Arg166=)
c.846C>G (p.Arg282=)
c.744C>G (p.Arg248=)
c.687C>G (p.Arg229=)
c.750C>G (p.Arg250=)
c.738C>G (p.Arg246=)
2g.144403964G=CA1294887179ZEB2c.*608C= (n.*608C=)
c.-19C= (n.-19C=)
c.759C= (p.Arg253=)
n.728C=
c.423C= (p.Arg141=)
c.*476C= (n.*476C=)
n.859C=
c.-133-5114C= (n.-133-5114C=)
c.756C= (p.Arg252=)
c.843C= (p.Arg281=)
c.498C= (p.Arg166=)
c.846C= (p.Arg282=)
c.744C= (p.Arg248=)
c.687C= (p.Arg229=)
c.750C= (p.Arg250=)
c.738C= (p.Arg246=)
2g.144403964G>TCA429218485ZEB2c.*608C>A (n.*608C>A)
c.-19C>A (n.-19C>A)
c.759C>A (p.Arg253=)
n.728C>A
c.423C>A (p.Arg141=)
c.*476C>A (n.*476C>A)
n.859C>A
c.-133-5114C>A (n.-133-5114C>A)
c.756C>A (p.Arg252=)
c.843C>A (p.Arg281=)
c.498C>A (p.Arg166=)
c.846C>A (p.Arg282=)
c.744C>A (p.Arg248=)
c.687C>A (p.Arg229=)
c.750C>A (p.Arg250=)
c.738C>A (p.Arg246=)
2g.144403965C>ACA348714655ZEB2c.*607G>T (n.*607G>T)
c.-20G>T (n.-20G>T)
c.758G>T (p.Arg253Leu)
n.727G>T
c.422G>T (p.Arg141Leu)
c.*475G>T (n.*475G>T)
n.858G>T
c.-133-5115G>T (n.-133-5115G>T)
c.755G>T (p.Arg252Leu)
c.842G>T (p.Arg281Leu)
c.497G>T (p.Arg166Leu)
c.845G>T (p.Arg282Leu)
c.743G>T (p.Arg248Leu)
c.686G>T (p.Arg229Leu)
c.749G>T (p.Arg250Leu)
c.737G>T (p.Arg246Leu)
2g.144403965C>GCA348714656ZEB2c.*607G>C (n.*607G>C)
c.-20G>C (n.-20G>C)
c.758G>C (p.Arg253Pro)
n.727G>C
c.422G>C (p.Arg141Pro)
c.*475G>C (n.*475G>C)
n.858G>C
c.-133-5115G>C (n.-133-5115G>C)
c.755G>C (p.Arg252Pro)
c.842G>C (p.Arg281Pro)
c.497G>C (p.Arg166Pro)
c.845G>C (p.Arg282Pro)
c.743G>C (p.Arg248Pro)
c.686G>C (p.Arg229Pro)
c.749G>C (p.Arg250Pro)
c.737G>C (p.Arg246Pro)
2g.144403965C>TCA348714657ZEB2c.*607G>A (n.*607G>A)
c.-20G>A (n.-20G>A)
c.758G>A (p.Arg253His)
n.727G>A
c.422G>A (p.Arg141His)
c.*475G>A (n.*475G>A)
n.858G>A
c.-133-5115G>A (n.-133-5115G>A)
c.755G>A (p.Arg252His)
c.842G>A (p.Arg281His)
c.497G>A (p.Arg166His)
c.845G>A (p.Arg282His)
c.743G>A (p.Arg248His)
c.686G>A (p.Arg229His)
c.749G>A (p.Arg250His)
c.737G>A (p.Arg246His)
 gnomAD v4 COSMIC
2g.144403966G>ACA1898422ZEB2c.*606C>T (n.*606C>T)
c.-21C>T (n.-21C>T)
c.757C>T (p.Arg253Cys)
n.726C>T
c.421C>T (p.Arg141Cys)
c.*474C>T (n.*474C>T)
n.857C>T
c.-133-5116C>T (n.-133-5116C>T)
c.754C>T (p.Arg252Cys)
c.841C>T (p.Arg281Cys)
c.496C>T (p.Arg166Cys)
c.844C>T (p.Arg282Cys)
c.742C>T (p.Arg248Cys)
c.685C>T (p.Arg229Cys)
c.748C>T (p.Arg250Cys)
c.736C>T (p.Arg246Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144403966G>CCA348714658ZEB2c.*606C>G (n.*606C>G)
c.-21C>G (n.-21C>G)
c.757C>G (p.Arg253Gly)
n.726C>G
c.421C>G (p.Arg141Gly)
c.*474C>G (n.*474C>G)
n.857C>G
c.-133-5116C>G (n.-133-5116C>G)
c.754C>G (p.Arg252Gly)
c.841C>G (p.Arg281Gly)
c.496C>G (p.Arg166Gly)
c.844C>G (p.Arg282Gly)
c.742C>G (p.Arg248Gly)
c.685C>G (p.Arg229Gly)
c.748C>G (p.Arg250Gly)
c.736C>G (p.Arg246Gly)
2g.144403966G=CA1294887180ZEB2c.*606C= (n.*606C=)
c.-21C= (n.-21C=)
c.757C= (p.Arg253=)
n.726C=
c.421C= (p.Arg141=)
c.*474C= (n.*474C=)
n.857C=
c.-133-5116C= (n.-133-5116C=)
c.754C= (p.Arg252=)
c.841C= (p.Arg281=)
c.496C= (p.Arg166=)
c.844C= (p.Arg282=)
c.742C= (p.Arg248=)
c.685C= (p.Arg229=)
c.748C= (p.Arg250=)
c.736C= (p.Arg246=)
2g.144403966G>TCA348714659ZEB2c.*606C>A (n.*606C>A)
c.-21C>A (n.-21C>A)
c.757C>A (p.Arg253Ser)
n.726C>A
c.421C>A (p.Arg141Ser)
c.*474C>A (n.*474C>A)
n.857C>A
c.-133-5116C>A (n.-133-5116C>A)
c.754C>A (p.Arg252Ser)
c.841C>A (p.Arg281Ser)
c.496C>A (p.Arg166Ser)
c.844C>A (p.Arg282Ser)
c.742C>A (p.Arg248Ser)
c.685C>A (p.Arg229Ser)
c.748C>A (p.Arg250Ser)
c.736C>A (p.Arg246Ser)
 ClinVar dbSNP
2g.144403967G>ACA429218487ZEB2c.*605C>T (n.*605C>T)
c.-22C>T (n.-22C>T)
c.756C>T (p.Tyr252=)
n.725C>T
c.420C>T (p.Tyr140=)
c.*473C>T (n.*473C>T)
n.856C>T
c.-133-5117C>T (n.-133-5117C>T)
c.753C>T (p.Tyr251=)
c.840C>T (p.Tyr280=)
c.495C>T (p.Tyr165=)
c.843C>T (p.Tyr281=)
c.741C>T (p.Tyr247=)
c.684C>T (p.Tyr228=)
c.747C>T (p.Tyr249=)
c.735C>T (p.Tyr245=)
 ClinVar dbSNP gnomAD v4
2g.144403967G>CCA348714660ZEB2c.*605C>G (n.*605C>G)
c.-22C>G (n.-22C>G)
c.756C>G (p.Tyr252Ter)
n.725C>G
c.420C>G (p.Tyr140Ter)
c.*473C>G (n.*473C>G)
n.856C>G
c.-133-5117C>G (n.-133-5117C>G)
c.753C>G (p.Tyr251Ter)
c.840C>G (p.Tyr280Ter)
c.495C>G (p.Tyr165Ter)
c.843C>G (p.Tyr281Ter)
c.741C>G (p.Tyr247Ter)
c.684C>G (p.Tyr228Ter)
c.747C>G (p.Tyr249Ter)
c.735C>G (p.Tyr245Ter)
2g.144403967G=CA1294887181ZEB2c.*605C= (n.*605C=)
c.-22C= (n.-22C=)
c.756C= (p.Tyr252=)
n.725C=
c.420C= (p.Tyr140=)
c.*473C= (n.*473C=)
n.856C=
c.-133-5117C= (n.-133-5117C=)
c.753C= (p.Tyr251=)
c.840C= (p.Tyr280=)
c.495C= (p.Tyr165=)
c.843C= (p.Tyr281=)
c.741C= (p.Tyr247=)
c.684C= (p.Tyr228=)
c.747C= (p.Tyr249=)
c.735C= (p.Tyr245=)
2g.144403967G>TCA348714661ZEB2c.*605C>A (n.*605C>A)
c.-22C>A (n.-22C>A)
c.756C>A (p.Tyr252Ter)
n.725C>A
c.420C>A (p.Tyr140Ter)
c.*473C>A (n.*473C>A)
n.856C>A
c.-133-5117C>A (n.-133-5117C>A)
c.753C>A (p.Tyr251Ter)
c.840C>A (p.Tyr280Ter)
c.495C>A (p.Tyr165Ter)
c.843C>A (p.Tyr281Ter)
c.741C>A (p.Tyr247Ter)
c.684C>A (p.Tyr228Ter)
c.747C>A (p.Tyr249Ter)
c.735C>A (p.Tyr245Ter)
2g.144403968T>ACA348714664ZEB2c.*604A>T (n.*604A>T)
c.-23A>T (n.-23A>T)
c.755A>T (p.Tyr252Phe)
n.724A>T
c.419A>T (p.Tyr140Phe)
c.*472A>T (n.*472A>T)
n.855A>T
c.-133-5118A>T (n.-133-5118A>T)
c.752A>T (p.Tyr251Phe)
c.839A>T (p.Tyr280Phe)
c.494A>T (p.Tyr165Phe)
c.842A>T (p.Tyr281Phe)
c.740A>T (p.Tyr247Phe)
c.683A>T (p.Tyr228Phe)
c.746A>T (p.Tyr249Phe)
c.734A>T (p.Tyr245Phe)
2g.144403968T>CCA348714662ZEB2c.*604A>G (n.*604A>G)
c.-23A>G (n.-23A>G)
c.755A>G (p.Tyr252Cys)
n.724A>G
c.419A>G (p.Tyr140Cys)
c.*472A>G (n.*472A>G)
n.855A>G
c.-133-5118A>G (n.-133-5118A>G)
c.752A>G (p.Tyr251Cys)
c.839A>G (p.Tyr280Cys)
c.494A>G (p.Tyr165Cys)
c.842A>G (p.Tyr281Cys)
c.740A>G (p.Tyr247Cys)
c.683A>G (p.Tyr228Cys)
c.746A>G (p.Tyr249Cys)
c.734A>G (p.Tyr245Cys)
 gnomAD v4
2g.144403968T>GCA348714663ZEB2c.*604A>C (n.*604A>C)
c.-23A>C (n.-23A>C)
c.755A>C (p.Tyr252Ser)
n.724A>C
c.419A>C (p.Tyr140Ser)
c.*472A>C (n.*472A>C)
n.855A>C
c.-133-5118A>C (n.-133-5118A>C)
c.752A>C (p.Tyr251Ser)
c.839A>C (p.Tyr280Ser)
c.494A>C (p.Tyr165Ser)
c.842A>C (p.Tyr281Ser)
c.740A>C (p.Tyr247Ser)
c.683A>C (p.Tyr228Ser)
c.746A>C (p.Tyr249Ser)
c.734A>C (p.Tyr245Ser)
2g.144403969A>CCA348714665ZEB2c.*603T>G (n.*603T>G)
c.-24T>G (n.-24T>G)
c.754T>G (p.Tyr252Asp)
n.723T>G
c.418T>G (p.Tyr140Asp)
c.*471T>G (n.*471T>G)
n.854T>G
c.-133-5119T>G (n.-133-5119T>G)
c.751T>G (p.Tyr251Asp)
c.838T>G (p.Tyr280Asp)
c.493T>G (p.Tyr165Asp)
c.841T>G (p.Tyr281Asp)
c.739T>G (p.Tyr247Asp)
c.682T>G (p.Tyr228Asp)
c.745T>G (p.Tyr249Asp)
c.733T>G (p.Tyr245Asp)
2g.144403969A>GCA348714666ZEB2c.*603T>C (n.*603T>C)
c.-24T>C (n.-24T>C)
c.754T>C (p.Tyr252His)
n.723T>C
c.418T>C (p.Tyr140His)
c.*471T>C (n.*471T>C)
n.854T>C
c.-133-5119T>C (n.-133-5119T>C)
c.751T>C (p.Tyr251His)
c.838T>C (p.Tyr280His)
c.493T>C (p.Tyr165His)
c.841T>C (p.Tyr281His)
c.739T>C (p.Tyr247His)
c.682T>C (p.Tyr228His)
c.745T>C (p.Tyr249His)
c.733T>C (p.Tyr245His)
 COSMIC
2g.144403969A>TCA348714667ZEB2c.*603T>A (n.*603T>A)
c.-24T>A (n.-24T>A)
c.754T>A (p.Tyr252Asn)
n.723T>A
c.418T>A (p.Tyr140Asn)
c.*471T>A (n.*471T>A)
n.854T>A
c.-133-5119T>A (n.-133-5119T>A)
c.751T>A (p.Tyr251Asn)
c.838T>A (p.Tyr280Asn)
c.493T>A (p.Tyr165Asn)
c.841T>A (p.Tyr281Asn)
c.739T>A (p.Tyr247Asn)
c.682T>A (p.Tyr228Asn)
c.745T>A (p.Tyr249Asn)
c.733T>A (p.Tyr245Asn)
2g.144403970G>ACA429218489ZEB2c.*602C>T (n.*602C>T)
c.-25C>T (n.-25C>T)
c.753C>T (p.Ala251=)
n.722C>T
c.417C>T (p.Ala139=)
c.*470C>T (n.*470C>T)
n.853C>T
c.-133-5120C>T (n.-133-5120C>T)
c.750C>T (p.Ala250=)
c.837C>T (p.Ala279=)
c.492C>T (p.Ala164=)
c.840C>T (p.Ala280=)
c.738C>T (p.Ala246=)
c.681C>T (p.Ala227=)
c.744C>T (p.Ala248=)
c.732C>T (p.Ala244=)
 ClinVar
2g.144403970G>CCA429218492ZEB2c.*602C>G (n.*602C>G)
c.-25C>G (n.-25C>G)
c.753C>G (p.Ala251=)
n.722C>G
c.417C>G (p.Ala139=)
c.*470C>G (n.*470C>G)
n.853C>G
c.-133-5120C>G (n.-133-5120C>G)
c.750C>G (p.Ala250=)
c.837C>G (p.Ala279=)
c.492C>G (p.Ala164=)
c.840C>G (p.Ala280=)
c.738C>G (p.Ala246=)
c.681C>G (p.Ala227=)
c.744C>G (p.Ala248=)
c.732C>G (p.Ala244=)
2g.144403970G>TCA429218490ZEB2c.*602C>A (n.*602C>A)
c.-25C>A (n.-25C>A)
c.753C>A (p.Ala251=)
n.722C>A
c.417C>A (p.Ala139=)
c.*470C>A (n.*470C>A)
n.853C>A
c.-133-5120C>A (n.-133-5120C>A)
c.750C>A (p.Ala250=)
c.837C>A (p.Ala279=)
c.492C>A (p.Ala164=)
c.840C>A (p.Ala280=)
c.738C>A (p.Ala246=)
c.681C>A (p.Ala227=)
c.744C>A (p.Ala248=)
c.732C>A (p.Ala244=)
2g.144403971G>ACA348714668ZEB2c.*601C>T (n.*601C>T)
c.-26C>T (n.-26C>T)
c.752C>T (p.Ala251Val)
n.721C>T
c.416C>T (p.Ala139Val)
c.*469C>T (n.*469C>T)
n.852C>T
c.-133-5121C>T (n.-133-5121C>T)
c.749C>T (p.Ala250Val)
c.836C>T (p.Ala279Val)
c.491C>T (p.Ala164Val)
c.839C>T (p.Ala280Val)
c.737C>T (p.Ala246Val)
c.680C>T (p.Ala227Val)
c.743C>T (p.Ala248Val)
c.731C>T (p.Ala244Val)
2g.144403971G>CCA348714669ZEB2c.*601C>G (n.*601C>G)
c.-26C>G (n.-26C>G)
c.752C>G (p.Ala251Gly)
n.721C>G
c.416C>G (p.Ala139Gly)
c.*469C>G (n.*469C>G)
n.852C>G
c.-133-5121C>G (n.-133-5121C>G)
c.749C>G (p.Ala250Gly)
c.836C>G (p.Ala279Gly)
c.491C>G (p.Ala164Gly)
c.839C>G (p.Ala280Gly)
c.737C>G (p.Ala246Gly)
c.680C>G (p.Ala227Gly)
c.743C>G (p.Ala248Gly)
c.731C>G (p.Ala244Gly)
2g.144403971G>TCA348714670ZEB2c.*601C>A (n.*601C>A)
c.-26C>A (n.-26C>A)
c.752C>A (p.Ala251Asp)
n.721C>A
c.416C>A (p.Ala139Asp)
c.*469C>A (n.*469C>A)
n.852C>A
c.-133-5121C>A (n.-133-5121C>A)
c.749C>A (p.Ala250Asp)
c.836C>A (p.Ala279Asp)
c.491C>A (p.Ala164Asp)
c.839C>A (p.Ala280Asp)
c.737C>A (p.Ala246Asp)
c.680C>A (p.Ala227Asp)
c.743C>A (p.Ala248Asp)
c.731C>A (p.Ala244Asp)
2g.144403972C>ACA348714671ZEB2c.*600G>T (n.*600G>T)
c.-27G>T (n.-27G>T)
c.751G>T (p.Ala251Ser)
n.720G>T
c.415G>T (p.Ala139Ser)
c.*468G>T (n.*468G>T)
n.851G>T
c.-133-5122G>T (n.-133-5122G>T)
c.748G>T (p.Ala250Ser)
c.835G>T (p.Ala279Ser)
c.490G>T (p.Ala164Ser)
c.838G>T (p.Ala280Ser)
c.736G>T (p.Ala246Ser)
c.679G>T (p.Ala227Ser)
c.742G>T (p.Ala248Ser)
c.730G>T (p.Ala244Ser)
2g.144403972C=CA1294887182ZEB2c.*600G= (n.*600G=)
c.-27G= (n.-27G=)
c.751G= (p.Ala251=)
n.720G=
c.415G= (p.Ala139=)
c.*468G= (n.*468G=)
n.851G=
c.-133-5122G= (n.-133-5122G=)
c.748G= (p.Ala250=)
c.835G= (p.Ala279=)
c.490G= (p.Ala164=)
c.838G= (p.Ala280=)
c.736G= (p.Ala246=)
c.679G= (p.Ala227=)
c.742G= (p.Ala248=)
c.730G= (p.Ala244=)
2g.144403972C>GCA348714672ZEB2c.*600G>C (n.*600G>C)
c.-27G>C (n.-27G>C)
c.751G>C (p.Ala251Pro)
n.720G>C
c.415G>C (p.Ala139Pro)
c.*468G>C (n.*468G>C)
n.851G>C
c.-133-5122G>C (n.-133-5122G>C)
c.748G>C (p.Ala250Pro)
c.835G>C (p.Ala279Pro)
c.490G>C (p.Ala164Pro)
c.838G>C (p.Ala280Pro)
c.736G>C (p.Ala246Pro)
c.679G>C (p.Ala227Pro)
c.742G>C (p.Ala248Pro)
c.730G>C (p.Ala244Pro)
2g.144403972C>TCA348714673ZEB2c.*600G>A (n.*600G>A)
c.-27G>A (n.-27G>A)
c.751G>A (p.Ala251Thr)
n.720G>A
c.415G>A (p.Ala139Thr)
c.*468G>A (n.*468G>A)
n.851G>A
c.-133-5122G>A (n.-133-5122G>A)
c.748G>A (p.Ala250Thr)
c.835G>A (p.Ala279Thr)
c.490G>A (p.Ala164Thr)
c.838G>A (p.Ala280Thr)
c.736G>A (p.Ala246Thr)
c.679G>A (p.Ala227Thr)
c.742G>A (p.Ala248Thr)
c.730G>A (p.Ala244Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144403973A>CCA348714674ZEB2c.*599T>G (n.*599T>G)
c.-28T>G (n.-28T>G)
c.750T>G (p.Phe250Leu)
n.719T>G
c.414T>G (p.Phe138Leu)
c.*467T>G (n.*467T>G)
n.850T>G
c.-133-5123T>G (n.-133-5123T>G)
c.747T>G (p.Phe249Leu)
c.834T>G (p.Phe278Leu)
c.489T>G (p.Phe163Leu)
c.837T>G (p.Phe279Leu)
c.735T>G (p.Phe245Leu)
c.678T>G (p.Phe226Leu)
c.741T>G (p.Phe247Leu)
c.729T>G (p.Phe243Leu)
2g.144403973A>GCA429218496ZEB2c.*599T>C (n.*599T>C)
c.-28T>C (n.-28T>C)
c.750T>C (p.Phe250=)
n.719T>C
c.414T>C (p.Phe138=)
c.*467T>C (n.*467T>C)
n.850T>C
c.-133-5123T>C (n.-133-5123T>C)
c.747T>C (p.Phe249=)
c.834T>C (p.Phe278=)
c.489T>C (p.Phe163=)
c.837T>C (p.Phe279=)
c.735T>C (p.Phe245=)
c.678T>C (p.Phe226=)
c.741T>C (p.Phe247=)
c.729T>C (p.Phe243=)
 COSMIC
2g.144403973A>TCA348714675ZEB2c.*599T>A (n.*599T>A)
c.-28T>A (n.-28T>A)
c.750T>A (p.Phe250Leu)
n.719T>A
c.414T>A (p.Phe138Leu)
c.*467T>A (n.*467T>A)
n.850T>A
c.-133-5123T>A (n.-133-5123T>A)
c.747T>A (p.Phe249Leu)
c.834T>A (p.Phe278Leu)
c.489T>A (p.Phe163Leu)
c.837T>A (p.Phe279Leu)
c.735T>A (p.Phe245Leu)
c.678T>A (p.Phe226Leu)
c.741T>A (p.Phe247Leu)
c.729T>A (p.Phe243Leu)
2g.144403974A>CCA348714676ZEB2c.*598T>G (n.*598T>G)
c.-29T>G (n.-29T>G)
c.749T>G (p.Phe250Cys)
n.718T>G
c.413T>G (p.Phe138Cys)
c.*466T>G (n.*466T>G)
n.849T>G
c.-133-5124T>G (n.-133-5124T>G)
c.746T>G (p.Phe249Cys)
c.833T>G (p.Phe278Cys)
c.488T>G (p.Phe163Cys)
c.836T>G (p.Phe279Cys)
c.734T>G (p.Phe245Cys)
c.677T>G (p.Phe226Cys)
c.740T>G (p.Phe247Cys)
c.728T>G (p.Phe243Cys)
2g.144403974A>GCA348714678ZEB2c.*598T>C (n.*598T>C)
c.-29T>C (n.-29T>C)
c.749T>C (p.Phe250Ser)
n.718T>C
c.413T>C (p.Phe138Ser)
c.*466T>C (n.*466T>C)
n.849T>C
c.-133-5124T>C (n.-133-5124T>C)
c.746T>C (p.Phe249Ser)
c.833T>C (p.Phe278Ser)
c.488T>C (p.Phe163Ser)
c.836T>C (p.Phe279Ser)
c.734T>C (p.Phe245Ser)
c.677T>C (p.Phe226Ser)
c.740T>C (p.Phe247Ser)
c.728T>C (p.Phe243Ser)
2g.144403974A>TCA348714677ZEB2c.*598T>A (n.*598T>A)
c.-29T>A (n.-29T>A)
c.749T>A (p.Phe250Tyr)
n.718T>A
c.413T>A (p.Phe138Tyr)
c.*466T>A (n.*466T>A)
n.849T>A
c.-133-5124T>A (n.-133-5124T>A)
c.746T>A (p.Phe249Tyr)
c.833T>A (p.Phe278Tyr)
c.488T>A (p.Phe163Tyr)
c.836T>A (p.Phe279Tyr)
c.734T>A (p.Phe245Tyr)
c.677T>A (p.Phe226Tyr)
c.740T>A (p.Phe247Tyr)
c.728T>A (p.Phe243Tyr)
2g.144403975A>CCA348714679ZEB2c.*597T>G (n.*597T>G)
c.-30T>G (n.-30T>G)
c.748T>G (p.Phe250Val)
n.717T>G
c.412T>G (p.Phe138Val)
c.*465T>G (n.*465T>G)
n.848T>G
c.-133-5125T>G (n.-133-5125T>G)
c.745T>G (p.Phe249Val)
c.832T>G (p.Phe278Val)
c.487T>G (p.Phe163Val)
c.835T>G (p.Phe279Val)
c.733T>G (p.Phe245Val)
c.676T>G (p.Phe226Val)
c.739T>G (p.Phe247Val)
c.727T>G (p.Phe243Val)
2g.144403975A>GCA348714681ZEB2c.*597T>C (n.*597T>C)
c.-30T>C (n.-30T>C)
c.748T>C (p.Phe250Leu)
n.717T>C
c.412T>C (p.Phe138Leu)
c.*465T>C (n.*465T>C)
n.848T>C
c.-133-5125T>C (n.-133-5125T>C)
c.745T>C (p.Phe249Leu)
c.832T>C (p.Phe278Leu)
c.487T>C (p.Phe163Leu)
c.835T>C (p.Phe279Leu)
c.733T>C (p.Phe245Leu)
c.676T>C (p.Phe226Leu)
c.739T>C (p.Phe247Leu)
c.727T>C (p.Phe243Leu)
2g.144403975A>TCA348714680ZEB2c.*597T>A (n.*597T>A)
c.-30T>A (n.-30T>A)
c.748T>A (p.Phe250Ile)
n.717T>A
c.412T>A (p.Phe138Ile)
c.*465T>A (n.*465T>A)
n.848T>A
c.-133-5125T>A (n.-133-5125T>A)
c.745T>A (p.Phe249Ile)
c.832T>A (p.Phe278Ile)
c.487T>A (p.Phe163Ile)
c.835T>A (p.Phe279Ile)
c.733T>A (p.Phe245Ile)
c.676T>A (p.Phe226Ile)
c.739T>A (p.Phe247Ile)
c.727T>A (p.Phe243Ile)
2g.144403976C>ACA1898423ZEB2c.*596G>T (n.*596G>T)
c.-31G>T (n.-31G>T)
c.747G>T (p.Thr249=)
n.716G>T
c.411G>T (p.Thr137=)
c.*464G>T (n.*464G>T)
n.847G>T
c.-133-5126G>T (n.-133-5126G>T)
c.744G>T (p.Thr248=)
c.831G>T (p.Thr277=)
c.486G>T (p.Thr162=)
c.834G>T (p.Thr278=)
c.732G>T (p.Thr244=)
c.675G>T (p.Thr225=)
c.738G>T (p.Thr246=)
c.726G>T (p.Thr242=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144403976C=CA1294887183ZEB2c.*596G= (n.*596G=)
c.-31G= (n.-31G=)
c.747G= (p.Thr249=)
n.716G=
c.411G= (p.Thr137=)
c.*464G= (n.*464G=)
n.847G=
c.-133-5126G= (n.-133-5126G=)
c.744G= (p.Thr248=)
c.831G= (p.Thr277=)
c.486G= (p.Thr162=)
c.834G= (p.Thr278=)
c.732G= (p.Thr244=)
c.675G= (p.Thr225=)
c.738G= (p.Thr246=)
c.726G= (p.Thr242=)
2g.144403976C>GCA429218498ZEB2c.*596G>C (n.*596G>C)
c.-31G>C (n.-31G>C)
c.747G>C (p.Thr249=)
n.716G>C
c.411G>C (p.Thr137=)
c.*464G>C (n.*464G>C)
n.847G>C
c.-133-5126G>C (n.-133-5126G>C)
c.744G>C (p.Thr248=)
c.831G>C (p.Thr277=)
c.486G>C (p.Thr162=)
c.834G>C (p.Thr278=)
c.732G>C (p.Thr244=)
c.675G>C (p.Thr225=)
c.738G>C (p.Thr246=)
c.726G>C (p.Thr242=)
 dbSNP gnomAD v4
2g.144403976C>TCA272832ZEB2c.*596G>A (n.*596G>A)
c.-31G>A (n.-31G>A)
c.747G>A (p.Thr249=)
n.716G>A
c.411G>A (p.Thr137=)
c.*464G>A (n.*464G>A)
n.847G>A
c.-133-5126G>A (n.-133-5126G>A)
c.744G>A (p.Thr248=)
c.831G>A (p.Thr277=)
c.486G>A (p.Thr162=)
c.834G>A (p.Thr278=)
c.732G>A (p.Thr244=)
c.675G>A (p.Thr225=)
c.738G>A (p.Thr246=)
c.726G>A (p.Thr242=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144403977G>ACA348714682ZEB2c.*595C>T (n.*595C>T)
c.-32C>T (n.-32C>T)
c.746C>T (p.Thr249Met)
n.715C>T
c.410C>T (p.Thr137Met)
c.*463C>T (n.*463C>T)
n.846C>T
c.-133-5127C>T (n.-133-5127C>T)
c.743C>T (p.Thr248Met)
c.830C>T (p.Thr277Met)
c.485C>T (p.Thr162Met)
c.833C>T (p.Thr278Met)
c.731C>T (p.Thr244Met)
c.674C>T (p.Thr225Met)
c.737C>T (p.Thr246Met)
c.725C>T (p.Thr242Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144403977G>CCA348714684ZEB2c.*595C>G (n.*595C>G)
c.-32C>G (n.-32C>G)
c.746C>G (p.Thr249Arg)
n.715C>G
c.410C>G (p.Thr137Arg)
c.*463C>G (n.*463C>G)
n.846C>G
c.-133-5127C>G (n.-133-5127C>G)
c.743C>G (p.Thr248Arg)
c.830C>G (p.Thr277Arg)
c.485C>G (p.Thr162Arg)
c.833C>G (p.Thr278Arg)
c.731C>G (p.Thr244Arg)
c.674C>G (p.Thr225Arg)
c.737C>G (p.Thr246Arg)
c.725C>G (p.Thr242Arg)
2g.144403977G=CA1294887184ZEB2c.*595C= (n.*595C=)
c.-32C= (n.-32C=)
c.746C= (p.Thr249=)
n.715C=
c.410C= (p.Thr137=)
c.*463C= (n.*463C=)
n.846C=
c.-133-5127C= (n.-133-5127C=)
c.743C= (p.Thr248=)
c.830C= (p.Thr277=)
c.485C= (p.Thr162=)
c.833C= (p.Thr278=)
c.731C= (p.Thr244=)
c.674C= (p.Thr225=)
c.737C= (p.Thr246=)
c.725C= (p.Thr242=)
2g.144403977G>TCA348714683ZEB2c.*595C>A (n.*595C>A)
c.-32C>A (n.-32C>A)
c.746C>A (p.Thr249Lys)
n.715C>A
c.410C>A (p.Thr137Lys)
c.*463C>A (n.*463C>A)
n.846C>A
c.-133-5127C>A (n.-133-5127C>A)
c.743C>A (p.Thr248Lys)
c.830C>A (p.Thr277Lys)
c.485C>A (p.Thr162Lys)
c.833C>A (p.Thr278Lys)
c.731C>A (p.Thr244Lys)
c.674C>A (p.Thr225Lys)
c.737C>A (p.Thr246Lys)
c.725C>A (p.Thr242Lys)
2g.144403978T>ACA348714685ZEB2c.*594A>T (n.*594A>T)
c.-33A>T (n.-33A>T)
c.745A>T (p.Thr249Ser)
n.714A>T
c.409A>T (p.Thr137Ser)
c.*462A>T (n.*462A>T)
n.845A>T
c.-133-5128A>T (n.-133-5128A>T)
c.742A>T (p.Thr248Ser)
c.829A>T (p.Thr277Ser)
c.484A>T (p.Thr162Ser)
c.832A>T (p.Thr278Ser)
c.730A>T (p.Thr244Ser)
c.673A>T (p.Thr225Ser)
c.736A>T (p.Thr246Ser)
c.724A>T (p.Thr242Ser)
2g.144403978T>CCA348714686ZEB2c.*594A>G (n.*594A>G)
c.-33A>G (n.-33A>G)
c.745A>G (p.Thr249Ala)
n.714A>G
c.409A>G (p.Thr137Ala)
c.*462A>G (n.*462A>G)
n.845A>G
c.-133-5128A>G (n.-133-5128A>G)
c.742A>G (p.Thr248Ala)
c.829A>G (p.Thr277Ala)
c.484A>G (p.Thr162Ala)
c.832A>G (p.Thr278Ala)
c.730A>G (p.Thr244Ala)
c.673A>G (p.Thr225Ala)
c.736A>G (p.Thr246Ala)
c.724A>G (p.Thr242Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.144403978T>GCA348714687ZEB2c.*594A>C (n.*594A>C)
c.-33A>C (n.-33A>C)
c.745A>C (p.Thr249Pro)
n.714A>C
c.409A>C (p.Thr137Pro)
c.*462A>C (n.*462A>C)
n.845A>C
c.-133-5128A>C (n.-133-5128A>C)
c.742A>C (p.Thr248Pro)
c.829A>C (p.Thr277Pro)
c.484A>C (p.Thr162Pro)
c.832A>C (p.Thr278Pro)
c.730A>C (p.Thr244Pro)
c.673A>C (p.Thr225Pro)
c.736A>C (p.Thr246Pro)
c.724A>C (p.Thr242Pro)
2g.144403978T=CA1294887185ZEB2c.*594A= (n.*594A=)
c.-33A= (n.-33A=)
c.745A= (p.Thr249=)
n.714A=
c.409A= (p.Thr137=)
c.*462A= (n.*462A=)
n.845A=
c.-133-5128A= (n.-133-5128A=)
c.742A= (p.Thr248=)
c.829A= (p.Thr277=)
c.484A= (p.Thr162=)
c.832A= (p.Thr278=)
c.730A= (p.Thr244=)
c.673A= (p.Thr225=)
c.736A= (p.Thr246=)
c.724A= (p.Thr242=)
2g.144403979G>ACA429218503ZEB2c.*593C>T (n.*593C>T)
c.-34C>T (n.-34C>T)
c.744C>T (p.Tyr248=)
n.713C>T
c.408C>T (p.Tyr136=)
c.*461C>T (n.*461C>T)
n.844C>T
c.-133-5129C>T (n.-133-5129C>T)
c.741C>T (p.Tyr247=)
c.828C>T (p.Tyr276=)
c.483C>T (p.Tyr161=)
c.831C>T (p.Tyr277=)
c.729C>T (p.Tyr243=)
c.672C>T (p.Tyr224=)
c.735C>T (p.Tyr245=)
c.723C>T (p.Tyr241=)
 gnomAD v4
2g.144403979G>CCA348714688ZEB2c.*593C>G (n.*593C>G)
c.-34C>G (n.-34C>G)
c.744C>G (p.Tyr248Ter)
n.713C>G
c.408C>G (p.Tyr136Ter)
c.*461C>G (n.*461C>G)
n.844C>G
c.-133-5129C>G (n.-133-5129C>G)
c.741C>G (p.Tyr247Ter)
c.828C>G (p.Tyr276Ter)
c.483C>G (p.Tyr161Ter)
c.831C>G (p.Tyr277Ter)
c.729C>G (p.Tyr243Ter)
c.672C>G (p.Tyr224Ter)
c.735C>G (p.Tyr245Ter)
c.723C>G (p.Tyr241Ter)
2g.144403979G>TCA348714689ZEB2c.*593C>A (n.*593C>A)
c.-34C>A (n.-34C>A)
c.744C>A (p.Tyr248Ter)
n.713C>A
c.408C>A (p.Tyr136Ter)
c.*461C>A (n.*461C>A)
n.844C>A
c.-133-5129C>A (n.-133-5129C>A)
c.741C>A (p.Tyr247Ter)
c.828C>A (p.Tyr276Ter)
c.483C>A (p.Tyr161Ter)
c.831C>A (p.Tyr277Ter)
c.729C>A (p.Tyr243Ter)
c.672C>A (p.Tyr224Ter)
c.735C>A (p.Tyr245Ter)
c.723C>A (p.Tyr241Ter)
2g.144403979_144403980insACA429218504ZEB2c.*592_*593insT (n.*592_*593insT)
c.-35_-34insT (n.-35_-34insT)
c.743_744insT (p.Thr249HisfsTer?)
n.712_713insT
c.407_408insT (p.Thr137HisfsTer?)
c.*460_*461insT (n.*460_*461insT)
n.843_844insT
c.-133-5130_-133-5129insT (n.-133-5130_-133-5129insT)
c.740_741insT (p.Thr248HisfsTer?)
c.827_828insT (p.Thr277HisfsTer?)
c.482_483insT (p.Thr162HisfsTer?)
c.830_831insT (p.Thr278HisfsTer?)
c.728_729insT (p.Thr244HisfsTer?)
c.671_672insT (p.Thr225HisfsTer?)
c.734_735insT (p.Thr246HisfsTer?)
c.722_723insT (p.Thr242HisfsTer?)
2g.144403980T>ACA348714690ZEB2c.*592A>T (n.*592A>T)
c.-35A>T (n.-35A>T)
c.743A>T (p.Tyr248Phe)
n.712A>T
c.407A>T (p.Tyr136Phe)
c.*460A>T (n.*460A>T)
n.843A>T
c.-133-5130A>T (n.-133-5130A>T)
c.740A>T (p.Tyr247Phe)
c.827A>T (p.Tyr276Phe)
c.482A>T (p.Tyr161Phe)
c.830A>T (p.Tyr277Phe)
c.728A>T (p.Tyr243Phe)
c.671A>T (p.Tyr224Phe)
c.734A>T (p.Tyr245Phe)
c.722A>T (p.Tyr241Phe)
2g.144403980T>CCA348714691ZEB2c.*592A>G (n.*592A>G)
c.-35A>G (n.-35A>G)
c.743A>G (p.Tyr248Cys)
n.712A>G
c.407A>G (p.Tyr136Cys)
c.*460A>G (n.*460A>G)
n.843A>G
c.-133-5130A>G (n.-133-5130A>G)
c.740A>G (p.Tyr247Cys)
c.827A>G (p.Tyr276Cys)
c.482A>G (p.Tyr161Cys)
c.830A>G (p.Tyr277Cys)
c.728A>G (p.Tyr243Cys)
c.671A>G (p.Tyr224Cys)
c.734A>G (p.Tyr245Cys)
c.722A>G (p.Tyr241Cys)
 ClinVar gnomAD v4
2g.144403980T>GCA348714692ZEB2c.*592A>C (n.*592A>C)
c.-35A>C (n.-35A>C)
c.743A>C (p.Tyr248Ser)
n.712A>C
c.407A>C (p.Tyr136Ser)
c.*460A>C (n.*460A>C)
n.843A>C
c.-133-5130A>C (n.-133-5130A>C)
c.740A>C (p.Tyr247Ser)
c.827A>C (p.Tyr276Ser)
c.482A>C (p.Tyr161Ser)
c.830A>C (p.Tyr277Ser)
c.728A>C (p.Tyr243Ser)
c.671A>C (p.Tyr224Ser)
c.734A>C (p.Tyr245Ser)
c.722A>C (p.Tyr241Ser)

Number of alleles fetched