Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6593050dupCA2575058106CHD4c.2613+46dup (n.2613+46dup)
c.2652+46dup (n.2652+46dup)
c.2643+46dup (n.2643+46dup)
c.2578+46dup
c.2592+46dup (n.2592+46dup)
c.2631+46dup (n.2631+46dup)
c.1369+46dup
c.2619+46dup (n.2619+46dup)
c.510+46dup (n.510+46dup)
n.607+46dup
n.2232+46dup
c.1580+46dup
c.653+46dup
 gnomAD v4
12g.6593049A=CA2014149107CHD4c.2613+42T= (n.2613+42T=)
c.2652+42T= (n.2652+42T=)
c.2643+42T= (n.2643+42T=)
c.2578+42T=
c.2592+42T= (n.2592+42T=)
c.2631+42T= (n.2631+42T=)
c.1369+42T=
c.2619+42T= (n.2619+42T=)
c.510+42T= (n.510+42T=)
n.607+42T=
n.2232+42T=
c.1580+42T=
c.653+42T=
12g.6593049A>CCA232392883CHD4c.2613+42T>G (n.2613+42T>G)
c.2652+42T>G (n.2652+42T>G)
c.2643+42T>G (n.2643+42T>G)
c.2578+42T>G
c.2592+42T>G (n.2592+42T>G)
c.2631+42T>G (n.2631+42T>G)
c.1369+42T>G
c.2619+42T>G (n.2619+42T>G)
c.510+42T>G (n.510+42T>G)
n.607+42T>G
n.2232+42T>G
c.1580+42T>G
c.653+42T>G
 dbSNP gnomAD v4
12g.6593051C>ACA603485102CHD4c.2613+40G>T (n.2613+40G>T)
c.2652+40G>T (n.2652+40G>T)
c.2643+40G>T (n.2643+40G>T)
c.2578+40G>T
c.2592+40G>T (n.2592+40G>T)
c.2631+40G>T (n.2631+40G>T)
c.1369+40G>T
c.2619+40G>T (n.2619+40G>T)
c.510+40G>T (n.510+40G>T)
n.607+40G>T
n.2232+40G>T
c.1580+40G>T
c.653+40G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6593051C=CA2014149112CHD4c.2613+40G= (n.2613+40G=)
c.2652+40G= (n.2652+40G=)
c.2643+40G= (n.2643+40G=)
c.2578+40G=
c.2592+40G= (n.2592+40G=)
c.2631+40G= (n.2631+40G=)
c.1369+40G=
c.2619+40G= (n.2619+40G=)
c.510+40G= (n.510+40G=)
n.607+40G=
n.2232+40G=
c.1580+40G=
c.653+40G=
12g.6593051C>TCA2575058107CHD4c.2613+40G>A (n.2613+40G>A)
c.2652+40G>A (n.2652+40G>A)
c.2643+40G>A (n.2643+40G>A)
c.2578+40G>A
c.2592+40G>A (n.2592+40G>A)
c.2631+40G>A (n.2631+40G>A)
c.1369+40G>A
c.2619+40G>A (n.2619+40G>A)
c.510+40G>A (n.510+40G>A)
n.607+40G>A
n.2232+40G>A
c.1580+40G>A
c.653+40G>A
 gnomAD v4
12g.6593052C>ACA2617296572CHD4c.2613+39G>T (n.2613+39G>T)
c.2652+39G>T (n.2652+39G>T)
c.2643+39G>T (n.2643+39G>T)
c.2578+39G>T
c.2592+39G>T (n.2592+39G>T)
c.2631+39G>T (n.2631+39G>T)
c.1369+39G>T
c.2619+39G>T (n.2619+39G>T)
c.510+39G>T (n.510+39G>T)
n.607+39G>T
n.2232+39G>T
c.1580+39G>T
c.653+39G>T
 gnomAD v4
12g.6593052C=CA2014149114CHD4c.2613+39G= (n.2613+39G=)
c.2652+39G= (n.2652+39G=)
c.2643+39G= (n.2643+39G=)
c.2578+39G=
c.2592+39G= (n.2592+39G=)
c.2631+39G= (n.2631+39G=)
c.1369+39G=
c.2619+39G= (n.2619+39G=)
c.510+39G= (n.510+39G=)
n.607+39G=
n.2232+39G=
c.1580+39G=
c.653+39G=
12g.6593052C>TCA603485103CHD4c.2613+39G>A (n.2613+39G>A)
c.2652+39G>A (n.2652+39G>A)
c.2643+39G>A (n.2643+39G>A)
c.2578+39G>A
c.2592+39G>A (n.2592+39G>A)
c.2631+39G>A (n.2631+39G>A)
c.1369+39G>A
c.2619+39G>A (n.2619+39G>A)
c.510+39G>A (n.510+39G>A)
n.607+39G>A
n.2232+39G>A
c.1580+39G>A
c.653+39G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6593053C>GCA2617296573CHD4c.2613+38G>C (n.2613+38G>C)
c.2652+38G>C (n.2652+38G>C)
c.2643+38G>C (n.2643+38G>C)
c.2578+38G>C
c.2592+38G>C (n.2592+38G>C)
c.2631+38G>C (n.2631+38G>C)
c.1369+38G>C
c.2619+38G>C (n.2619+38G>C)
c.510+38G>C (n.510+38G>C)
n.607+38G>C
n.2232+38G>C
c.1580+38G>C
c.653+38G>C
 gnomAD v4
12g.6593054A=CA2014149116CHD4c.2613+37T= (n.2613+37T=)
c.2652+37T= (n.2652+37T=)
c.2643+37T= (n.2643+37T=)
c.2578+37T=
c.2592+37T= (n.2592+37T=)
c.2631+37T= (n.2631+37T=)
c.1369+37T=
c.2619+37T= (n.2619+37T=)
c.510+37T= (n.510+37T=)
n.607+37T=
n.2232+37T=
c.1580+37T=
c.653+37T=
12g.6593054A>CCA603485104CHD4c.2613+37T>G (n.2613+37T>G)
c.2652+37T>G (n.2652+37T>G)
c.2643+37T>G (n.2643+37T>G)
c.2578+37T>G
c.2592+37T>G (n.2592+37T>G)
c.2631+37T>G (n.2631+37T>G)
c.1369+37T>G
c.2619+37T>G (n.2619+37T>G)
c.510+37T>G (n.510+37T>G)
n.607+37T>G
n.2232+37T>G
c.1580+37T>G
c.653+37T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6593054A>GCA944367707CHD4c.2613+37T>C (n.2613+37T>C)
c.2652+37T>C (n.2652+37T>C)
c.2643+37T>C (n.2643+37T>C)
c.2578+37T>C
c.2592+37T>C (n.2592+37T>C)
c.2631+37T>C (n.2631+37T>C)
c.1369+37T>C
c.2619+37T>C (n.2619+37T>C)
c.510+37T>C (n.510+37T>C)
n.607+37T>C
n.2232+37T>C
c.1580+37T>C
c.653+37T>C
 dbSNP gnomAD v3 gnomAD v4
12g.6593055A>CCA2575058108CHD4c.2613+36T>G (n.2613+36T>G)
c.2652+36T>G (n.2652+36T>G)
c.2643+36T>G (n.2643+36T>G)
c.2578+36T>G
c.2592+36T>G (n.2592+36T>G)
c.2631+36T>G (n.2631+36T>G)
c.1369+36T>G
c.2619+36T>G (n.2619+36T>G)
c.510+36T>G (n.510+36T>G)
n.607+36T>G
n.2232+36T>G
c.1580+36T>G
c.653+36T>G
 gnomAD v4
12g.6593055A>TCA2575058109CHD4c.2613+36T>A (n.2613+36T>A)
c.2652+36T>A (n.2652+36T>A)
c.2643+36T>A (n.2643+36T>A)
c.2578+36T>A
c.2592+36T>A (n.2592+36T>A)
c.2631+36T>A (n.2631+36T>A)
c.1369+36T>A
c.2619+36T>A (n.2619+36T>A)
c.510+36T>A (n.510+36T>A)
n.607+36T>A
n.2232+36T>A
c.1580+36T>A
c.653+36T>A
12g.6593057delCA2794422102CHD4c.2613+34del (n.2613+34del)
c.2652+34del (n.2652+34del)
c.2643+34del (n.2643+34del)
c.2578+34del
c.2592+34del (n.2592+34del)
c.2631+34del (n.2631+34del)
c.1369+34del
c.2619+34del (n.2619+34del)
c.510+34del (n.510+34del)
n.607+34del
n.2232+34del
c.1580+34del
c.653+34del
12g.6593057G>CCA691054850CHD4c.2613+34C>G (n.2613+34C>G)
c.2652+34C>G (n.2652+34C>G)
c.2643+34C>G (n.2643+34C>G)
c.2578+34C>G
c.2592+34C>G (n.2592+34C>G)
c.2631+34C>G (n.2631+34C>G)
c.1369+34C>G
c.2619+34C>G (n.2619+34C>G)
c.510+34C>G (n.510+34C>G)
n.607+34C>G
n.2232+34C>G
c.1580+34C>G
c.653+34C>G
 dbSNP gnomAD v3 gnomAD v4
12g.6593057G=CA2014149118CHD4c.2613+34C= (n.2613+34C=)
c.2652+34C= (n.2652+34C=)
c.2643+34C= (n.2643+34C=)
c.2578+34C=
c.2592+34C= (n.2592+34C=)
c.2631+34C= (n.2631+34C=)
c.1369+34C=
c.2619+34C= (n.2619+34C=)
c.510+34C= (n.510+34C=)
n.607+34C=
n.2232+34C=
c.1580+34C=
c.653+34C=
12g.6593058T>CCA2014149122CHD4c.2613+33A>G (n.2613+33A>G)
c.2652+33A>G (n.2652+33A>G)
c.2643+33A>G (n.2643+33A>G)
c.2578+33A>G
c.2592+33A>G (n.2592+33A>G)
c.2631+33A>G (n.2631+33A>G)
c.1369+33A>G
c.2619+33A>G (n.2619+33A>G)
c.510+33A>G (n.510+33A>G)
n.607+33A>G
n.2232+33A>G
c.1580+33A>G
c.653+33A>G
 dbSNP
12g.6593058T=CA2014149121CHD4c.2613+33A= (n.2613+33A=)
c.2652+33A= (n.2652+33A=)
c.2643+33A= (n.2643+33A=)
c.2578+33A=
c.2592+33A= (n.2592+33A=)
c.2631+33A= (n.2631+33A=)
c.1369+33A=
c.2619+33A= (n.2619+33A=)
c.510+33A= (n.510+33A=)
n.607+33A=
n.2232+33A=
c.1580+33A=
c.653+33A=
12g.6593059G>ACA944367708CHD4c.2613+32C>T (n.2613+32C>T)
c.2652+32C>T (n.2652+32C>T)
c.2643+32C>T (n.2643+32C>T)
c.2578+32C>T
c.2592+32C>T (n.2592+32C>T)
c.2631+32C>T (n.2631+32C>T)
c.1369+32C>T
c.2619+32C>T (n.2619+32C>T)
c.510+32C>T (n.510+32C>T)
n.607+32C>T
n.2232+32C>T
c.1580+32C>T
c.653+32C>T
 dbSNP gnomAD v3 gnomAD v4
12g.6593059G=CA2014149124CHD4c.2613+32C= (n.2613+32C=)
c.2652+32C= (n.2652+32C=)
c.2643+32C= (n.2643+32C=)
c.2578+32C=
c.2592+32C= (n.2592+32C=)
c.2631+32C= (n.2631+32C=)
c.1369+32C=
c.2619+32C= (n.2619+32C=)
c.510+32C= (n.510+32C=)
n.607+32C=
n.2232+32C=
c.1580+32C=
c.653+32C=
12g.6593059G>TCA2617296574CHD4c.2613+32C>A (n.2613+32C>A)
c.2652+32C>A (n.2652+32C>A)
c.2643+32C>A (n.2643+32C>A)
c.2578+32C>A
c.2592+32C>A (n.2592+32C>A)
c.2631+32C>A (n.2631+32C>A)
c.1369+32C>A
c.2619+32C>A (n.2619+32C>A)
c.510+32C>A (n.510+32C>A)
n.607+32C>A
n.2232+32C>A
c.1580+32C>A
c.653+32C>A
 gnomAD v4
12g.6593061G>ACA232392896CHD4c.2613+30C>T (n.2613+30C>T)
c.2652+30C>T (n.2652+30C>T)
c.2643+30C>T (n.2643+30C>T)
c.2578+30C>T
c.2592+30C>T (n.2592+30C>T)
c.2631+30C>T (n.2631+30C>T)
c.1369+30C>T
c.2619+30C>T (n.2619+30C>T)
c.510+30C>T (n.510+30C>T)
n.607+30C>T
n.2232+30C>T
c.1580+30C>T
c.653+30C>T
 dbSNP gnomAD v4
12g.6593061G=CA2014149125CHD4c.2613+30C= (n.2613+30C=)
c.2652+30C= (n.2652+30C=)
c.2643+30C= (n.2643+30C=)
c.2578+30C=
c.2592+30C= (n.2592+30C=)
c.2631+30C= (n.2631+30C=)
c.1369+30C=
c.2619+30C= (n.2619+30C=)
c.510+30C= (n.510+30C=)
n.607+30C=
n.2232+30C=
c.1580+30C=
c.653+30C=
12g.6593061G>TCA2617296575CHD4c.2613+30C>A (n.2613+30C>A)
c.2652+30C>A (n.2652+30C>A)
c.2643+30C>A (n.2643+30C>A)
c.2578+30C>A
c.2592+30C>A (n.2592+30C>A)
c.2631+30C>A (n.2631+30C>A)
c.1369+30C>A
c.2619+30C>A (n.2619+30C>A)
c.510+30C>A (n.510+30C>A)
n.607+30C>A
n.2232+30C>A
c.1580+30C>A
c.653+30C>A
 gnomAD v4
12g.6593062G>TCA2617296576CHD4c.2613+29C>A (n.2613+29C>A)
c.2652+29C>A (n.2652+29C>A)
c.2643+29C>A (n.2643+29C>A)
c.2578+29C>A
c.2592+29C>A (n.2592+29C>A)
c.2631+29C>A (n.2631+29C>A)
c.1369+29C>A
c.2619+29C>A (n.2619+29C>A)
c.510+29C>A (n.510+29C>A)
n.607+29C>A
n.2232+29C>A
c.1580+29C>A
c.653+29C>A
 gnomAD v4
12g.6593063G>ACA6411928CHD4c.2613+28C>T (n.2613+28C>T)
c.2652+28C>T (n.2652+28C>T)
c.2643+28C>T (n.2643+28C>T)
c.2578+28C>T
c.2592+28C>T (n.2592+28C>T)
c.2631+28C>T (n.2631+28C>T)
c.1369+28C>T
c.2619+28C>T (n.2619+28C>T)
c.510+28C>T (n.510+28C>T)
n.607+28C>T
n.2232+28C>T
c.1580+28C>T
c.653+28C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6593063G>CCA6411929CHD4c.2613+28C>G (n.2613+28C>G)
c.2652+28C>G (n.2652+28C>G)
c.2643+28C>G (n.2643+28C>G)
c.2578+28C>G
c.2592+28C>G (n.2592+28C>G)
c.2631+28C>G (n.2631+28C>G)
c.1369+28C>G
c.2619+28C>G (n.2619+28C>G)
c.510+28C>G (n.510+28C>G)
n.607+28C>G
n.2232+28C>G
c.1580+28C>G
c.653+28C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6593063G=CA2014149130CHD4c.2613+28C= (n.2613+28C=)
c.2652+28C= (n.2652+28C=)
c.2643+28C= (n.2643+28C=)
c.2578+28C=
c.2592+28C= (n.2592+28C=)
c.2631+28C= (n.2631+28C=)
c.1369+28C=
c.2619+28C= (n.2619+28C=)
c.510+28C= (n.510+28C=)
n.607+28C=
n.2232+28C=
c.1580+28C=
c.653+28C=
12g.6593063G>TCA691054853CHD4c.2613+28C>A (n.2613+28C>A)
c.2652+28C>A (n.2652+28C>A)
c.2643+28C>A (n.2643+28C>A)
c.2578+28C>A
c.2592+28C>A (n.2592+28C>A)
c.2631+28C>A (n.2631+28C>A)
c.1369+28C>A
c.2619+28C>A (n.2619+28C>A)
c.510+28C>A (n.510+28C>A)
n.607+28C>A
n.2232+28C>A
c.1580+28C>A
c.653+28C>A
 dbSNP gnomAD v3 gnomAD v4
12g.6593064C=CA2014149135CHD4c.2613+27G= (n.2613+27G=)
c.2652+27G= (n.2652+27G=)
c.2643+27G= (n.2643+27G=)
c.2578+27G=
c.2592+27G= (n.2592+27G=)
c.2631+27G= (n.2631+27G=)
c.1369+27G=
c.2619+27G= (n.2619+27G=)
c.510+27G= (n.510+27G=)
n.607+27G=
n.2232+27G=
c.1580+27G=
c.653+27G=
12g.6593064C>TCA603485105CHD4c.2613+27G>A (n.2613+27G>A)
c.2652+27G>A (n.2652+27G>A)
c.2643+27G>A (n.2643+27G>A)
c.2578+27G>A
c.2592+27G>A (n.2592+27G>A)
c.2631+27G>A (n.2631+27G>A)
c.1369+27G>A
c.2619+27G>A (n.2619+27G>A)
c.510+27G>A (n.510+27G>A)
n.607+27G>A
n.2232+27G>A
c.1580+27G>A
c.653+27G>A
 dbSNP gnomAD v2
12g.6593064dupCA2617296577CHD4c.2613+27dup (n.2613+27dup)
c.2652+27dup (n.2652+27dup)
c.2643+27dup (n.2643+27dup)
c.2578+27dup
c.2592+27dup (n.2592+27dup)
c.2631+27dup (n.2631+27dup)
c.1369+27dup
c.2619+27dup (n.2619+27dup)
c.510+27dup (n.510+27dup)
n.607+27dup
n.2232+27dup
c.1580+27dup
c.653+27dup
 gnomAD v4
12g.6593067C>ACA2617296578CHD4c.2613+24G>T (n.2613+24G>T)
c.2652+24G>T (n.2652+24G>T)
c.2643+24G>T (n.2643+24G>T)
c.2578+24G>T
c.2592+24G>T (n.2592+24G>T)
c.2631+24G>T (n.2631+24G>T)
c.1369+24G>T
c.2619+24G>T (n.2619+24G>T)
c.510+24G>T (n.510+24G>T)
n.607+24G>T
n.2232+24G>T
c.1580+24G>T
c.653+24G>T
 gnomAD v4
12g.6593067C>TCA2617296579CHD4c.2613+24G>A (n.2613+24G>A)
c.2652+24G>A (n.2652+24G>A)
c.2643+24G>A (n.2643+24G>A)
c.2578+24G>A
c.2592+24G>A (n.2592+24G>A)
c.2631+24G>A (n.2631+24G>A)
c.1369+24G>A
c.2619+24G>A (n.2619+24G>A)
c.510+24G>A (n.510+24G>A)
n.607+24G>A
n.2232+24G>A
c.1580+24G>A
c.653+24G>A
 gnomAD v4
12g.6593069dupCA2617296580CHD4c.2613+23dup (n.2613+23dup)
c.2652+23dup (n.2652+23dup)
c.2643+23dup (n.2643+23dup)
c.2578+23dup
c.2592+23dup (n.2592+23dup)
c.2631+23dup (n.2631+23dup)
c.1369+23dup
c.2619+23dup (n.2619+23dup)
c.510+23dup (n.510+23dup)
n.607+23dup
n.2232+23dup
c.1580+23dup
c.653+23dup
 gnomAD v4
12g.6593069A>GCA2575058110CHD4c.2613+22T>C (n.2613+22T>C)
c.2652+22T>C (n.2652+22T>C)
c.2643+22T>C (n.2643+22T>C)
c.2578+22T>C
c.2592+22T>C (n.2592+22T>C)
c.2631+22T>C (n.2631+22T>C)
c.1369+22T>C
c.2619+22T>C (n.2619+22T>C)
c.510+22T>C (n.510+22T>C)
n.607+22T>C
n.2232+22T>C
c.1580+22T>C
c.653+22T>C
12g.6593070C>ACA2575058111CHD4c.2613+21G>T (n.2613+21G>T)
c.2652+21G>T (n.2652+21G>T)
c.2643+21G>T (n.2643+21G>T)
c.2578+21G>T
c.2592+21G>T (n.2592+21G>T)
c.2631+21G>T (n.2631+21G>T)
c.1369+21G>T
c.2619+21G>T (n.2619+21G>T)
c.510+21G>T (n.510+21G>T)
n.607+21G>T
n.2232+21G>T
c.1580+21G>T
c.653+21G>T
12g.6593071A>GCA2794422103CHD4c.2613+20T>C (n.2613+20T>C)
c.2652+20T>C (n.2652+20T>C)
c.2643+20T>C (n.2643+20T>C)
c.2578+20T>C
c.2592+20T>C (n.2592+20T>C)
c.2631+20T>C (n.2631+20T>C)
c.1369+20T>C
c.2619+20T>C (n.2619+20T>C)
c.510+20T>C (n.510+20T>C)
n.607+20T>C
n.2232+20T>C
c.1580+20T>C
c.653+20T>C
12g.6593073C>ACA6411930CHD4c.2613+18G>T (n.2613+18G>T)
c.2652+18G>T (n.2652+18G>T)
c.2643+18G>T (n.2643+18G>T)
c.2578+18G>T
c.2592+18G>T (n.2592+18G>T)
c.2631+18G>T (n.2631+18G>T)
c.1369+18G>T
c.2619+18G>T (n.2619+18G>T)
c.510+18G>T (n.510+18G>T)
n.607+18G>T
n.2232+18G>T
c.1580+18G>T
c.653+18G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6593073C=CA2014149140CHD4c.2613+18G= (n.2613+18G=)
c.2652+18G= (n.2652+18G=)
c.2643+18G= (n.2643+18G=)
c.2578+18G=
c.2592+18G= (n.2592+18G=)
c.2631+18G= (n.2631+18G=)
c.1369+18G=
c.2619+18G= (n.2619+18G=)
c.510+18G= (n.510+18G=)
n.607+18G=
n.2232+18G=
c.1580+18G=
c.653+18G=
12g.6593073C>TCA6411931CHD4c.2613+18G>A (n.2613+18G>A)
c.2652+18G>A (n.2652+18G>A)
c.2643+18G>A (n.2643+18G>A)
c.2578+18G>A
c.2592+18G>A (n.2592+18G>A)
c.2631+18G>A (n.2631+18G>A)
c.1369+18G>A
c.2619+18G>A (n.2619+18G>A)
c.510+18G>A (n.510+18G>A)
n.607+18G>A
n.2232+18G>A
c.1580+18G>A
c.653+18G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6593074C>GCA2575058112CHD4c.2613+17G>C (n.2613+17G>C)
c.2652+17G>C (n.2652+17G>C)
c.2643+17G>C (n.2643+17G>C)
c.2578+17G>C
c.2592+17G>C (n.2592+17G>C)
c.2631+17G>C (n.2631+17G>C)
c.1369+17G>C
c.2619+17G>C (n.2619+17G>C)
c.510+17G>C (n.510+17G>C)
n.607+17G>C
n.2232+17G>C
c.1580+17G>C
c.653+17G>C
12g.6593074C>TCA2741226790CHD4c.2613+17G>A (n.2613+17G>A)
c.2652+17G>A (n.2652+17G>A)
c.2643+17G>A (n.2643+17G>A)
c.2578+17G>A
c.2592+17G>A (n.2592+17G>A)
c.2631+17G>A (n.2631+17G>A)
c.1369+17G>A
c.2619+17G>A (n.2619+17G>A)
c.510+17G>A (n.510+17G>A)
n.607+17G>A
n.2232+17G>A
c.1580+17G>A
c.653+17G>A
12g.6593075C>ACA2617296581CHD4c.2613+16G>T (n.2613+16G>T)
c.2652+16G>T (n.2652+16G>T)
c.2643+16G>T (n.2643+16G>T)
c.2578+16G>T
c.2592+16G>T (n.2592+16G>T)
c.2631+16G>T (n.2631+16G>T)
c.1369+16G>T
c.2619+16G>T (n.2619+16G>T)
c.510+16G>T (n.510+16G>T)
n.607+16G>T
n.2232+16G>T
c.1580+16G>T
c.653+16G>T
 gnomAD v4
12g.6593075C=CA2014149143CHD4c.2613+16G= (n.2613+16G=)
c.2652+16G= (n.2652+16G=)
c.2643+16G= (n.2643+16G=)
c.2578+16G=
c.2592+16G= (n.2592+16G=)
c.2631+16G= (n.2631+16G=)
c.1369+16G=
c.2619+16G= (n.2619+16G=)
c.510+16G= (n.510+16G=)
n.607+16G=
n.2232+16G=
c.1580+16G=
c.653+16G=
12g.6593075C>GCA603485106CHD4c.2613+16G>C (n.2613+16G>C)
c.2652+16G>C (n.2652+16G>C)
c.2643+16G>C (n.2643+16G>C)
c.2578+16G>C
c.2592+16G>C (n.2592+16G>C)
c.2631+16G>C (n.2631+16G>C)
c.1369+16G>C
c.2619+16G>C (n.2619+16G>C)
c.510+16G>C (n.510+16G>C)
n.607+16G>C
n.2232+16G>C
c.1580+16G>C
c.653+16G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6593076T>ACA2617296582CHD4c.2613+15A>T (n.2613+15A>T)
c.2652+15A>T (n.2652+15A>T)
c.2643+15A>T (n.2643+15A>T)
c.2578+15A>T
c.2592+15A>T (n.2592+15A>T)
c.2631+15A>T (n.2631+15A>T)
c.1369+15A>T
c.2619+15A>T (n.2619+15A>T)
c.510+15A>T (n.510+15A>T)
n.607+15A>T
n.2232+15A>T
c.1580+15A>T
c.653+15A>T
 gnomAD v4
12g.6593076_6593077delinsTCCA2014149144CHD4c.2613+14_2613+15delinsGA (n.2613+14_2613+15delinsGA)
c.2652+14_2652+15delinsGA (n.2652+14_2652+15delinsGA)
c.2643+14_2643+15delinsGA (n.2643+14_2643+15delinsGA)
c.2578+14_2578+15delinsGA
c.2592+14_2592+15delinsGA (n.2592+14_2592+15delinsGA)
c.2631+14_2631+15delinsGA (n.2631+14_2631+15delinsGA)
c.1369+14_1369+15delinsGA
c.2619+14_2619+15delinsGA (n.2619+14_2619+15delinsGA)
c.510+14_510+15delinsGA (n.510+14_510+15delinsGA)
n.607+14_607+15delinsGA
n.2232+14_2232+15delinsGA
c.1580+14_1580+15delinsGA
c.653+14_653+15delinsGA
12g.6593077C>ACA6411932CHD4c.2613+14G>T (n.2613+14G>T)
c.2652+14G>T (n.2652+14G>T)
c.2643+14G>T (n.2643+14G>T)
c.2578+14G>T
c.2592+14G>T (n.2592+14G>T)
c.2631+14G>T (n.2631+14G>T)
c.1369+14G>T
c.2619+14G>T (n.2619+14G>T)
c.510+14G>T (n.510+14G>T)
n.607+14G>T
n.2232+14G>T
c.1580+14G>T
c.653+14G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6593077C=CA2014149147CHD4c.2613+14G= (n.2613+14G=)
c.2652+14G= (n.2652+14G=)
c.2643+14G= (n.2643+14G=)
c.2578+14G=
c.2592+14G= (n.2592+14G=)
c.2631+14G= (n.2631+14G=)
c.1369+14G=
c.2619+14G= (n.2619+14G=)
c.510+14G= (n.510+14G=)
n.607+14G=
n.2232+14G=
c.1580+14G=
c.653+14G=
12g.6593077C>GCA2014149149CHD4c.2613+14G>C (n.2613+14G>C)
c.2652+14G>C (n.2652+14G>C)
c.2643+14G>C (n.2643+14G>C)
c.2578+14G>C
c.2592+14G>C (n.2592+14G>C)
c.2631+14G>C (n.2631+14G>C)
c.1369+14G>C
c.2619+14G>C (n.2619+14G>C)
c.510+14G>C (n.510+14G>C)
n.607+14G>C
n.2232+14G>C
c.1580+14G>C
c.653+14G>C
 dbSNP gnomAD v4
12g.6593079delCA603485107CHD4c.2613+14del (n.2613+14del)
c.2652+14del (n.2652+14del)
c.2643+14del (n.2643+14del)
c.2578+14del
c.2592+14del (n.2592+14del)
c.2631+14del (n.2631+14del)
c.1369+14del
c.2619+14del (n.2619+14del)
c.510+14del (n.510+14del)
n.607+14del
n.2232+14del
c.1580+14del
c.653+14del
 dbSNP gnomAD v2
12g.6593078C>ACA2794422104CHD4c.2613+13G>T (n.2613+13G>T)
c.2652+13G>T (n.2652+13G>T)
c.2643+13G>T (n.2643+13G>T)
c.2578+13G>T
c.2592+13G>T (n.2592+13G>T)
c.2631+13G>T (n.2631+13G>T)
c.1369+13G>T
c.2619+13G>T (n.2619+13G>T)
c.510+13G>T (n.510+13G>T)
n.607+13G>T
n.2232+13G>T
c.1580+13G>T
c.653+13G>T
12g.6593078C>TCA2617296583CHD4c.2613+13G>A (n.2613+13G>A)
c.2652+13G>A (n.2652+13G>A)
c.2643+13G>A (n.2643+13G>A)
c.2578+13G>A
c.2592+13G>A (n.2592+13G>A)
c.2631+13G>A (n.2631+13G>A)
c.1369+13G>A
c.2619+13G>A (n.2619+13G>A)
c.510+13G>A (n.510+13G>A)
n.607+13G>A
n.2232+13G>A
c.1580+13G>A
c.653+13G>A
 gnomAD v4
12g.6593079C>ACA2617296584CHD4c.2613+12G>T (n.2613+12G>T)
c.2652+12G>T (n.2652+12G>T)
c.2643+12G>T (n.2643+12G>T)
c.2578+12G>T
c.2592+12G>T (n.2592+12G>T)
c.2631+12G>T (n.2631+12G>T)
c.1369+12G>T
c.2619+12G>T (n.2619+12G>T)
c.510+12G>T (n.510+12G>T)
n.607+12G>T
n.2232+12G>T
c.1580+12G>T
c.653+12G>T
 gnomAD v4
12g.6593079C=CA2014149151CHD4c.2613+12G= (n.2613+12G=)
c.2652+12G= (n.2652+12G=)
c.2643+12G= (n.2643+12G=)
c.2578+12G=
c.2592+12G= (n.2592+12G=)
c.2631+12G= (n.2631+12G=)
c.1369+12G=
c.2619+12G= (n.2619+12G=)
c.510+12G= (n.510+12G=)
n.607+12G=
n.2232+12G=
c.1580+12G=
c.653+12G=
12g.6593079C>GCA603485108CHD4c.2613+12G>C (n.2613+12G>C)
c.2652+12G>C (n.2652+12G>C)
c.2643+12G>C (n.2643+12G>C)
c.2578+12G>C
c.2592+12G>C (n.2592+12G>C)
c.2631+12G>C (n.2631+12G>C)
c.1369+12G>C
c.2619+12G>C (n.2619+12G>C)
c.510+12G>C (n.510+12G>C)
n.607+12G>C
n.2232+12G>C
c.1580+12G>C
c.653+12G>C
 dbSNP gnomAD v2
12g.6593081C=CA2014149153CHD4c.2613+10G= (n.2613+10G=)
c.2652+10G= (n.2652+10G=)
c.2643+10G= (n.2643+10G=)
c.2578+10G=
c.2592+10G= (n.2592+10G=)
c.2631+10G= (n.2631+10G=)
c.1369+10G=
c.2619+10G= (n.2619+10G=)
c.510+10G= (n.510+10G=)
n.607+10G=
n.2232+10G=
c.1580+10G=
c.653+10G=
12g.6593081C>GCA944367714CHD4c.2613+10G>C (n.2613+10G>C)
c.2652+10G>C (n.2652+10G>C)
c.2643+10G>C (n.2643+10G>C)
c.2578+10G>C
c.2592+10G>C (n.2592+10G>C)
c.2631+10G>C (n.2631+10G>C)
c.1369+10G>C
c.2619+10G>C (n.2619+10G>C)
c.510+10G>C (n.510+10G>C)
n.607+10G>C
n.2232+10G>C
c.1580+10G>C
c.653+10G>C
 dbSNP gnomAD v3 gnomAD v4
12g.6593082A=CA2014149155CHD4c.2613+9T= (n.2613+9T=)
c.2652+9T= (n.2652+9T=)
c.2643+9T= (n.2643+9T=)
c.2578+9T=
c.2592+9T= (n.2592+9T=)
c.2631+9T= (n.2631+9T=)
c.1369+9T=
c.2619+9T= (n.2619+9T=)
c.510+9T= (n.510+9T=)
n.607+9T=
n.2232+9T=
c.1580+9T=
c.653+9T=
12g.6593082A>CCA232392906CHD4c.2613+9T>G (n.2613+9T>G)
c.2652+9T>G (n.2652+9T>G)
c.2643+9T>G (n.2643+9T>G)
c.2578+9T>G
c.2592+9T>G (n.2592+9T>G)
c.2631+9T>G (n.2631+9T>G)
c.1369+9T>G
c.2619+9T>G (n.2619+9T>G)
c.510+9T>G (n.510+9T>G)
n.607+9T>G
n.2232+9T>G
c.1580+9T>G
c.653+9T>G
 dbSNP gnomAD v3 gnomAD v4
12g.6593084C>ACA2617296585CHD4c.2613+7G>T (n.2613+7G>T)
c.2652+7G>T (n.2652+7G>T)
c.2643+7G>T (n.2643+7G>T)
c.2578+7G>T
c.2592+7G>T (n.2592+7G>T)
c.2631+7G>T (n.2631+7G>T)
c.1369+7G>T
c.2619+7G>T (n.2619+7G>T)
c.510+7G>T (n.510+7G>T)
n.607+7G>T
n.2232+7G>T
c.1580+7G>T
c.653+7G>T
 gnomAD v4
12g.6593084C=CA2014149157CHD4c.2613+7G= (n.2613+7G=)
c.2652+7G= (n.2652+7G=)
c.2643+7G= (n.2643+7G=)
c.2578+7G=
c.2592+7G= (n.2592+7G=)
c.2631+7G= (n.2631+7G=)
c.1369+7G=
c.2619+7G= (n.2619+7G=)
c.510+7G= (n.510+7G=)
n.607+7G=
n.2232+7G=
c.1580+7G=
c.653+7G=
12g.6593084C>TCA232392908CHD4c.2613+7G>A (n.2613+7G>A)
c.2652+7G>A (n.2652+7G>A)
c.2643+7G>A (n.2643+7G>A)
c.2578+7G>A
c.2592+7G>A (n.2592+7G>A)
c.2631+7G>A (n.2631+7G>A)
c.1369+7G>A
c.2619+7G>A (n.2619+7G>A)
c.510+7G>A (n.510+7G>A)
n.607+7G>A
n.2232+7G>A
c.1580+7G>A
c.653+7G>A
 dbSNP gnomAD v3 gnomAD v4
12g.6593085C=CA2014149159CHD4c.2613+6G= (n.2613+6G=)
c.2652+6G= (n.2652+6G=)
c.2643+6G= (n.2643+6G=)
c.2578+6G=
c.2592+6G= (n.2592+6G=)
c.2631+6G= (n.2631+6G=)
c.1369+6G=
c.2619+6G= (n.2619+6G=)
c.510+6G= (n.510+6G=)
n.607+6G=
n.2232+6G=
c.1580+6G=
c.653+6G=
12g.6593085C>GCA2014149160CHD4c.2613+6G>C (n.2613+6G>C)
c.2652+6G>C (n.2652+6G>C)
c.2643+6G>C (n.2643+6G>C)
c.2578+6G>C
c.2592+6G>C (n.2592+6G>C)
c.2631+6G>C (n.2631+6G>C)
c.1369+6G>C
c.2619+6G>C (n.2619+6G>C)
c.510+6G>C (n.510+6G>C)
n.607+6G>C
n.2232+6G>C
c.1580+6G>C
c.653+6G>C
 dbSNP gnomAD v4
12g.6593087T>ACA603485109CHD4c.2613+4A>T (n.2613+4A>T)
c.2652+4A>T (n.2652+4A>T)
c.2643+4A>T (n.2643+4A>T)
c.2578+4A>T
c.2592+4A>T (n.2592+4A>T)
c.2631+4A>T (n.2631+4A>T)
c.1369+4A>T
c.2619+4A>T (n.2619+4A>T)
c.510+4A>T (n.510+4A>T)
n.607+4A>T
n.2232+4A>T
c.1580+4A>T
c.653+4A>T
 dbSNP gnomAD v2 gnomAD v4
12g.6593087T=CA2014149162CHD4c.2613+4A= (n.2613+4A=)
c.2652+4A= (n.2652+4A=)
c.2643+4A= (n.2643+4A=)
c.2578+4A=
c.2592+4A= (n.2592+4A=)
c.2631+4A= (n.2631+4A=)
c.1369+4A=
c.2619+4A= (n.2619+4A=)
c.510+4A= (n.510+4A=)
n.607+4A=
n.2232+4A=
c.1580+4A=
c.653+4A=
12g.6593088C>TCA2617296586CHD4c.2613+3G>A (n.2613+3G>A)
c.2652+3G>A (n.2652+3G>A)
c.2643+3G>A (n.2643+3G>A)
c.2578+3G>A
c.2592+3G>A (n.2592+3G>A)
c.2631+3G>A (n.2631+3G>A)
c.1369+3G>A
c.2619+3G>A (n.2619+3G>A)
c.510+3G>A (n.510+3G>A)
n.607+3G>A
n.2232+3G>A
c.1580+3G>A
c.653+3G>A
 gnomAD v4
12g.6593089A=CA2014149165CHD4c.2613+2T= (n.2613+2T=)
c.2652+2T= (n.2652+2T=)
c.2643+2T= (n.2643+2T=)
c.2578+2T=
c.2592+2T= (n.2592+2T=)
c.2631+2T= (n.2631+2T=)
c.1369+2T=
c.2619+2T= (n.2619+2T=)
c.510+2T= (n.510+2T=)
n.607+2T=
n.2232+2T=
c.1580+2T=
c.653+2T=
12g.6593089A>CCA383591409CHD4c.2613+2T>G (n.2613+2T>G)
c.2652+2T>G (n.2652+2T>G)
c.2643+2T>G (n.2643+2T>G)
c.2578+2T>G
c.2592+2T>G (n.2592+2T>G)
c.2631+2T>G (n.2631+2T>G)
c.1369+2T>G
c.2619+2T>G (n.2619+2T>G)
c.510+2T>G (n.510+2T>G)
n.607+2T>G
n.2232+2T>G
c.1580+2T>G
c.653+2T>G
 dbSNP
12g.6593089A>GCA383591411CHD4c.2613+2T>C (n.2613+2T>C)
c.2652+2T>C (n.2652+2T>C)
c.2643+2T>C (n.2643+2T>C)
c.2578+2T>C
c.2592+2T>C (n.2592+2T>C)
c.2631+2T>C (n.2631+2T>C)
c.1369+2T>C
c.2619+2T>C (n.2619+2T>C)
c.510+2T>C (n.510+2T>C)
n.607+2T>C
n.2232+2T>C
c.1580+2T>C
c.653+2T>C
12g.6593089A>TCA383591412CHD4c.2613+2T>A (n.2613+2T>A)
c.2652+2T>A (n.2652+2T>A)
c.2643+2T>A (n.2643+2T>A)
c.2578+2T>A
c.2592+2T>A (n.2592+2T>A)
c.2631+2T>A (n.2631+2T>A)
c.1369+2T>A
c.2619+2T>A (n.2619+2T>A)
c.510+2T>A (n.510+2T>A)
n.607+2T>A
n.2232+2T>A
c.1580+2T>A
c.653+2T>A
12g.6593090C>ACA383591426CHD4c.2613+1G>T (n.2613+1G>T)
c.2652+1G>T (n.2652+1G>T)
c.2643+1G>T (n.2643+1G>T)
c.2578+1G>T
c.2592+1G>T (n.2592+1G>T)
c.2631+1G>T (n.2631+1G>T)
c.1369+1G>T
c.2619+1G>T (n.2619+1G>T)
c.510+1G>T (n.510+1G>T)
n.607+1G>T
n.2232+1G>T
c.1580+1G>T
c.653+1G>T
12g.6593090C>GCA383591419CHD4c.2613+1G>C (n.2613+1G>C)
c.2652+1G>C (n.2652+1G>C)
c.2643+1G>C (n.2643+1G>C)
c.2578+1G>C
c.2592+1G>C (n.2592+1G>C)
c.2631+1G>C (n.2631+1G>C)
c.1369+1G>C
c.2619+1G>C (n.2619+1G>C)
c.510+1G>C (n.510+1G>C)
n.607+1G>C
n.2232+1G>C
c.1580+1G>C
c.653+1G>C
12g.6593090C>TCA383591422CHD4c.2613+1G>A (n.2613+1G>A)
c.2652+1G>A (n.2652+1G>A)
c.2643+1G>A (n.2643+1G>A)
c.2578+1G>A
c.2592+1G>A (n.2592+1G>A)
c.2631+1G>A (n.2631+1G>A)
c.1369+1G>A
c.2619+1G>A (n.2619+1G>A)
c.510+1G>A (n.510+1G>A)
n.607+1G>A
n.2232+1G>A
c.1580+1G>A
c.653+1G>A
12g.6593091C>ACA383591430CHD4c.2613G>T (p.Lys871Asn)
c.2652G>T (p.Lys884Asn)
c.2643G>T (p.Lys881Asn)
c.2578G>T
c.2592G>T (p.Lys864Asn)
c.2631G>T (p.Lys877Asn)
c.1369G>T
c.2619G>T (p.Lys873Asn)
c.510G>T (p.Lys170Asn)
n.607G>T
n.2232G>T
c.1580G>T
c.653G>T
12g.6593091C>GCA383591432CHD4c.2613G>C (p.Lys871Asn)
c.2652G>C (p.Lys884Asn)
c.2643G>C (p.Lys881Asn)
c.2578G>C
c.2592G>C (p.Lys864Asn)
c.2631G>C (p.Lys877Asn)
c.1369G>C
c.2619G>C (p.Lys873Asn)
c.510G>C (p.Lys170Asn)
n.607G>C
n.2232G>C
c.1580G>C
c.653G>C
12g.6593091C>TCA478131939CHD4c.2613G>A (p.Lys871=)
c.2652G>A (p.Lys884=)
c.2643G>A (p.Lys881=)
c.2578G>A
c.2592G>A (p.Lys864=)
c.2631G>A (p.Lys877=)
c.1369G>A
c.2619G>A (p.Lys873=)
c.510G>A (p.Lys170=)
n.607G>A
n.2232G>A
c.1580G>A
c.653G>A
12g.6593092T>ACA383591436CHD4c.2612A>T (p.Lys871Met)
c.2651A>T (p.Lys884Met)
c.2642A>T (p.Lys881Met)
c.2577A>T
c.2591A>T (p.Lys864Met)
c.2630A>T (p.Lys877Met)
c.1368A>T
c.2618A>T (p.Lys873Met)
c.509A>T (p.Lys170Met)
n.606A>T
n.2231A>T
c.1579A>T
c.652A>T
12g.6593092T>CCA383591455CHD4c.2612A>G (p.Lys871Arg)
c.2651A>G (p.Lys884Arg)
c.2642A>G (p.Lys881Arg)
c.2577A>G
c.2591A>G (p.Lys864Arg)
c.2630A>G (p.Lys877Arg)
c.1368A>G
c.2618A>G (p.Lys873Arg)
c.509A>G (p.Lys170Arg)
n.606A>G
n.2231A>G
c.1579A>G
c.652A>G
12g.6593092T>GCA383591459CHD4c.2612A>C (p.Lys871Thr)
c.2651A>C (p.Lys884Thr)
c.2642A>C (p.Lys881Thr)
c.2577A>C
c.2591A>C (p.Lys864Thr)
c.2630A>C (p.Lys877Thr)
c.1368A>C
c.2618A>C (p.Lys873Thr)
c.509A>C (p.Lys170Thr)
n.606A>C
n.2231A>C
c.1579A>C
c.652A>C
12g.6593093T>ACA383591472CHD4c.2611A>T (p.Lys871Ter)
c.2650A>T (p.Lys884Ter)
c.2641A>T (p.Lys881Ter)
c.2576A>T
c.2590A>T (p.Lys864Ter)
c.2629A>T (p.Lys877Ter)
c.1367A>T
c.2617A>T (p.Lys873Ter)
c.508A>T (p.Lys170Ter)
n.605A>T
n.2230A>T
c.1578A>T
c.651A>T
12g.6593093T>CCA383591491CHD4c.2611A>G (p.Lys871Glu)
c.2650A>G (p.Lys884Glu)
c.2641A>G (p.Lys881Glu)
c.2576A>G
c.2590A>G (p.Lys864Glu)
c.2629A>G (p.Lys877Glu)
c.1367A>G
c.2617A>G (p.Lys873Glu)
c.508A>G (p.Lys170Glu)
n.605A>G
n.2230A>G
c.1578A>G
c.651A>G
12g.6593093T>GCA383591487CHD4c.2611A>C (p.Lys871Gln)
c.2650A>C (p.Lys884Gln)
c.2641A>C (p.Lys881Gln)
c.2576A>C
c.2590A>C (p.Lys864Gln)
c.2629A>C (p.Lys877Gln)
c.1367A>C
c.2617A>C (p.Lys873Gln)
c.508A>C (p.Lys170Gln)
n.605A>C
n.2230A>C
c.1578A>C
c.651A>C
12g.6593094A>CCA478131940CHD4c.2610T>G (p.Ser870=)
c.2649T>G (p.Ser883=)
c.2640T>G (p.Ser880=)
c.2575T>G
c.2589T>G (p.Ser863=)
c.2628T>G (p.Ser876=)
c.1366T>G
c.2616T>G (p.Ser872=)
c.507T>G (p.Ser169=)
n.604T>G
n.2229T>G
c.1577T>G
c.650T>G
12g.6593094A>GCA478131942CHD4c.2610T>C (p.Ser870=)
c.2649T>C (p.Ser883=)
c.2640T>C (p.Ser880=)
c.2575T>C
c.2589T>C (p.Ser863=)
c.2628T>C (p.Ser876=)
c.1366T>C
c.2616T>C (p.Ser872=)
c.507T>C (p.Ser169=)
n.604T>C
n.2229T>C
c.1577T>C
c.650T>C
12g.6593094A>TCA478131941CHD4c.2610T>A (p.Ser870=)
c.2649T>A (p.Ser883=)
c.2640T>A (p.Ser880=)
c.2575T>A
c.2589T>A (p.Ser863=)
c.2628T>A (p.Ser876=)
c.1366T>A
c.2616T>A (p.Ser872=)
c.507T>A (p.Ser169=)
n.604T>A
n.2229T>A
c.1577T>A
c.650T>A
12g.6593095G>ACA383591496CHD4c.2609C>T (p.Ser870Phe)
c.2648C>T (p.Ser883Phe)
c.2639C>T (p.Ser880Phe)
c.2574C>T
c.2588C>T (p.Ser863Phe)
c.2627C>T (p.Ser876Phe)
c.1365C>T
c.2615C>T (p.Ser872Phe)
c.506C>T (p.Ser169Phe)
n.603C>T
n.2228C>T
c.1576C>T
c.649C>T
 ClinVar dbSNP
12g.6593095G>CCA383591501CHD4c.2609C>G (p.Ser870Cys)
c.2648C>G (p.Ser883Cys)
c.2639C>G (p.Ser880Cys)
c.2574C>G
c.2588C>G (p.Ser863Cys)
c.2627C>G (p.Ser876Cys)
c.1365C>G
c.2615C>G (p.Ser872Cys)
c.506C>G (p.Ser169Cys)
n.603C>G
n.2228C>G
c.1576C>G
c.649C>G
12g.6593095G>TCA383591502CHD4c.2609C>A (p.Ser870Tyr)
c.2648C>A (p.Ser883Tyr)
c.2639C>A (p.Ser880Tyr)
c.2574C>A
c.2588C>A (p.Ser863Tyr)
c.2627C>A (p.Ser876Tyr)
c.1365C>A
c.2615C>A (p.Ser872Tyr)
c.506C>A (p.Ser169Tyr)
n.603C>A
n.2228C>A
c.1576C>A
c.649C>A
12g.6593096A>CCA383591504CHD4c.2608T>G (p.Ser870Ala)
c.2647T>G (p.Ser883Ala)
c.2638T>G (p.Ser880Ala)
c.2573T>G
c.2587T>G (p.Ser863Ala)
c.2626T>G (p.Ser876Ala)
c.1364T>G
c.2614T>G (p.Ser872Ala)
c.505T>G (p.Ser169Ala)
n.602T>G
n.2227T>G
c.1575T>G
c.648T>G
12g.6593096A>GCA383591506CHD4c.2608T>C (p.Ser870Pro)
c.2647T>C (p.Ser883Pro)
c.2638T>C (p.Ser880Pro)
c.2573T>C
c.2587T>C (p.Ser863Pro)
c.2626T>C (p.Ser876Pro)
c.1364T>C
c.2614T>C (p.Ser872Pro)
c.505T>C (p.Ser169Pro)
n.602T>C
n.2227T>C
c.1575T>C
c.648T>C
12g.6593096A>TCA383591509CHD4c.2608T>A (p.Ser870Thr)
c.2647T>A (p.Ser883Thr)
c.2638T>A (p.Ser880Thr)
c.2573T>A
c.2587T>A (p.Ser863Thr)
c.2626T>A (p.Ser876Thr)
c.1364T>A
c.2614T>A (p.Ser872Thr)
c.505T>A (p.Ser169Thr)
n.602T>A
n.2227T>A
c.1575T>A
c.648T>A
12g.6593097C>ACA6411933CHD4c.2607G>T (p.Gln869His)
c.2646G>T (p.Gln882His)
c.2637G>T (p.Gln879His)
c.2572G>T
c.2586G>T (p.Gln862His)
c.2625G>T (p.Gln875His)
c.1363G>T
c.2613G>T (p.Gln871His)
c.504G>T (p.Gln168His)
n.601G>T
n.2226G>T
c.1574G>T
c.647G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6593097C=CA2014149168CHD4c.2607G= (p.Gln869=)
c.2646G= (p.Gln882=)
c.2637G= (p.Gln879=)
c.2572G=
c.2586G= (p.Gln862=)
c.2625G= (p.Gln875=)
c.1363G=
c.2613G= (p.Gln871=)
c.504G= (p.Gln168=)
n.601G=
n.2226G=
c.1574G=
c.647G=
12g.6593097C>GCA383591511CHD4c.2607G>C (p.Gln869His)
c.2646G>C (p.Gln882His)
c.2637G>C (p.Gln879His)
c.2572G>C
c.2586G>C (p.Gln862His)
c.2625G>C (p.Gln875His)
c.1363G>C
c.2613G>C (p.Gln871His)
c.504G>C (p.Gln168His)
n.601G>C
n.2226G>C
c.1574G>C
c.647G>C
 dbSNP gnomAD v3 gnomAD v4
12g.6593097C>TCA478131943CHD4c.2607G>A (p.Gln869=)
c.2646G>A (p.Gln882=)
c.2637G>A (p.Gln879=)
c.2572G>A
c.2586G>A (p.Gln862=)
c.2625G>A (p.Gln875=)
c.1363G>A
c.2613G>A (p.Gln871=)
c.504G>A (p.Gln168=)
n.601G>A
n.2226G>A
c.1574G>A
c.647G>A
12g.6593098T>ACA383591514CHD4c.2606A>T (p.Gln869Leu)
c.2645A>T (p.Gln882Leu)
c.2636A>T (p.Gln879Leu)
c.2571A>T
c.2585A>T (p.Gln862Leu)
c.2624A>T (p.Gln875Leu)
c.1362A>T
c.2612A>T (p.Gln871Leu)
c.503A>T (p.Gln168Leu)
n.600A>T
n.2225A>T
c.1573A>T
c.646A>T
12g.6593098T>CCA383591528CHD4c.2606A>G (p.Gln869Arg)
c.2645A>G (p.Gln882Arg)
c.2636A>G (p.Gln879Arg)
c.2571A>G
c.2585A>G (p.Gln862Arg)
c.2624A>G (p.Gln875Arg)
c.1362A>G
c.2612A>G (p.Gln871Arg)
c.503A>G (p.Gln168Arg)
n.600A>G
n.2225A>G
c.1573A>G
c.646A>G
12g.6593098T>GCA383591530CHD4c.2606A>C (p.Gln869Pro)
c.2645A>C (p.Gln882Pro)
c.2636A>C (p.Gln879Pro)
c.2571A>C
c.2585A>C (p.Gln862Pro)
c.2624A>C (p.Gln875Pro)
c.1362A>C
c.2612A>C (p.Gln871Pro)
c.503A>C (p.Gln168Pro)
n.600A>C
n.2225A>C
c.1573A>C
c.646A>C
12g.6593099G>ACA383591535CHD4c.2605C>T (p.Gln869Ter)
c.2644C>T (p.Gln882Ter)
c.2635C>T (p.Gln879Ter)
c.2570C>T
c.2584C>T (p.Gln862Ter)
c.2623C>T (p.Gln875Ter)
c.1361C>T
c.2611C>T (p.Gln871Ter)
c.502C>T (p.Gln168Ter)
n.599C>T
n.2224C>T
c.1572C>T
c.645C>T
 COSMIC COSMIC COSMIC
12g.6593099G>CCA383591543CHD4c.2605C>G (p.Gln869Glu)
c.2644C>G (p.Gln882Glu)
c.2635C>G (p.Gln879Glu)
c.2570C>G
c.2584C>G (p.Gln862Glu)
c.2623C>G (p.Gln875Glu)
c.1361C>G
c.2611C>G (p.Gln871Glu)
c.502C>G (p.Gln168Glu)
n.599C>G
n.2224C>G
c.1572C>G
c.645C>G
12g.6593099G>TCA383591539CHD4c.2605C>A (p.Gln869Lys)
c.2644C>A (p.Gln882Lys)
c.2635C>A (p.Gln879Lys)
c.2570C>A
c.2584C>A (p.Gln862Lys)
c.2623C>A (p.Gln875Lys)
c.1361C>A
c.2611C>A (p.Gln871Lys)
c.502C>A (p.Gln168Lys)
n.599C>A
n.2224C>A
c.1572C>A
c.645C>A
12g.6593100A>CCA383591546CHD4c.2604T>G (p.Asn868Lys)
c.2643T>G (p.Asn881Lys)
c.2634T>G (p.Asn878Lys)
c.2569T>G
c.2583T>G (p.Asn861Lys)
c.2622T>G (p.Asn874Lys)
c.1360T>G
c.2610T>G (p.Asn870Lys)
c.501T>G (p.Asn167Lys)
n.598T>G
n.2223T>G
c.1571T>G
c.644T>G
12g.6593100A>GCA478131944CHD4c.2604T>C (p.Asn868=)
c.2643T>C (p.Asn881=)
c.2634T>C (p.Asn878=)
c.2569T>C
c.2583T>C (p.Asn861=)
c.2622T>C (p.Asn874=)
c.1360T>C
c.2610T>C (p.Asn870=)
c.501T>C (p.Asn167=)
n.598T>C
n.2223T>C
c.1571T>C
c.644T>C
 gnomAD v4
12g.6593100A>TCA383591549CHD4c.2604T>A (p.Asn868Lys)
c.2643T>A (p.Asn881Lys)
c.2634T>A (p.Asn878Lys)
c.2569T>A
c.2583T>A (p.Asn861Lys)
c.2622T>A (p.Asn874Lys)
c.1360T>A
c.2610T>A (p.Asn870Lys)
c.501T>A (p.Asn167Lys)
n.598T>A
n.2223T>A
c.1571T>A
c.644T>A
12g.6593101T>ACA383591553CHD4c.2603A>T (p.Asn868Ile)
c.2642A>T (p.Asn881Ile)
c.2633A>T (p.Asn878Ile)
c.2568A>T
c.2582A>T (p.Asn861Ile)
c.2621A>T (p.Asn874Ile)
c.1359A>T
c.2609A>T (p.Asn870Ile)
c.500A>T (p.Asn167Ile)
n.597A>T
n.2222A>T
c.1570A>T
c.643A>T
12g.6593101T>CCA383591555CHD4c.2603A>G (p.Asn868Ser)
c.2642A>G (p.Asn881Ser)
c.2633A>G (p.Asn878Ser)
c.2568A>G
c.2582A>G (p.Asn861Ser)
c.2621A>G (p.Asn874Ser)
c.1359A>G
c.2609A>G (p.Asn870Ser)
c.500A>G (p.Asn167Ser)
n.597A>G
n.2222A>G
c.1570A>G
c.643A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6593101T>GCA383591557CHD4c.2603A>C (p.Asn868Thr)
c.2642A>C (p.Asn881Thr)
c.2633A>C (p.Asn878Thr)
c.2568A>C
c.2582A>C (p.Asn861Thr)
c.2621A>C (p.Asn874Thr)
c.1359A>C
c.2609A>C (p.Asn870Thr)
c.500A>C (p.Asn167Thr)
n.597A>C
n.2222A>C
c.1570A>C
c.643A>C
12g.6593101T=CA2014149171CHD4c.2603A= (p.Asn868=)
c.2642A= (p.Asn881=)
c.2633A= (p.Asn878=)
c.2568A=
c.2582A= (p.Asn861=)
c.2621A= (p.Asn874=)
c.1359A=
c.2609A= (p.Asn870=)
c.500A= (p.Asn167=)
n.597A=
n.2222A=
c.1570A=
c.643A=
12g.6593102T>ACA383591558CHD4c.2602A>T (p.Asn868Tyr)
c.2641A>T (p.Asn881Tyr)
c.2632A>T (p.Asn878Tyr)
c.2567A>T
c.2581A>T (p.Asn861Tyr)
c.2620A>T (p.Asn874Tyr)
c.1358A>T
c.2608A>T (p.Asn870Tyr)
c.499A>T (p.Asn167Tyr)
n.596A>T
n.2221A>T
c.1569A>T
c.642A>T
12g.6593102T>CCA383591559CHD4c.2602A>G (p.Asn868Asp)
c.2641A>G (p.Asn881Asp)
c.2632A>G (p.Asn878Asp)
c.2567A>G
c.2581A>G (p.Asn861Asp)
c.2620A>G (p.Asn874Asp)
c.1358A>G
c.2608A>G (p.Asn870Asp)
c.499A>G (p.Asn167Asp)
n.596A>G
n.2221A>G
c.1569A>G
c.642A>G
12g.6593102T>GCA383591561CHD4c.2602A>C (p.Asn868His)
c.2641A>C (p.Asn881His)
c.2632A>C (p.Asn878His)
c.2567A>C
c.2581A>C (p.Asn861His)
c.2620A>C (p.Asn874His)
c.1358A>C
c.2608A>C (p.Asn870His)
c.499A>C (p.Asn167His)
n.596A>C
n.2221A>C
c.1569A>C
c.642A>C
12g.6593103G>ACA478131945CHD4c.2601C>T (p.Asn867=)
c.2640C>T (p.Asn880=)
c.2631C>T (p.Asn877=)
c.2566C>T
c.2580C>T (p.Asn860=)
c.2619C>T (p.Asn873=)
c.1357C>T
c.2607C>T (p.Asn869=)
c.498C>T (p.Asn166=)
n.595C>T
n.2220C>T
c.1568C>T
c.641C>T
 dbSNP
12g.6593103G>CCA383591565CHD4c.2601C>G (p.Asn867Lys)
c.2640C>G (p.Asn880Lys)
c.2631C>G (p.Asn877Lys)
c.2566C>G
c.2580C>G (p.Asn860Lys)
c.2619C>G (p.Asn873Lys)
c.1357C>G
c.2607C>G (p.Asn869Lys)
c.498C>G (p.Asn166Lys)
n.595C>G
n.2220C>G
c.1568C>G
c.641C>G
12g.6593103G=CA2014149174CHD4c.2601C= (p.Asn867=)
c.2640C= (p.Asn880=)
c.2631C= (p.Asn877=)
c.2566C=
c.2580C= (p.Asn860=)
c.2619C= (p.Asn873=)
c.1357C=
c.2607C= (p.Asn869=)
c.498C= (p.Asn166=)
n.595C=
n.2220C=
c.1568C=
c.641C=
12g.6593103G>TCA383591567CHD4c.2601C>A (p.Asn867Lys)
c.2640C>A (p.Asn880Lys)
c.2631C>A (p.Asn877Lys)
c.2566C>A
c.2580C>A (p.Asn860Lys)
c.2619C>A (p.Asn873Lys)
c.1357C>A
c.2607C>A (p.Asn869Lys)
c.498C>A (p.Asn166Lys)
n.595C>A
n.2220C>A
c.1568C>A
c.641C>A
12g.6593104T>ACA383591570CHD4c.2600A>T (p.Asn867Ile)
c.2639A>T (p.Asn880Ile)
c.2630A>T (p.Asn877Ile)
c.2565A>T
c.2579A>T (p.Asn860Ile)
c.2618A>T (p.Asn873Ile)
c.1356A>T
c.2606A>T (p.Asn869Ile)
c.497A>T (p.Asn166Ile)
n.594A>T
n.2219A>T
c.1567A>T
c.640A>T
12g.6593104T>CCA383591573CHD4c.2600A>G (p.Asn867Ser)
c.2639A>G (p.Asn880Ser)
c.2630A>G (p.Asn877Ser)
c.2565A>G
c.2579A>G (p.Asn860Ser)
c.2618A>G (p.Asn873Ser)
c.1356A>G
c.2606A>G (p.Asn869Ser)
c.497A>G (p.Asn166Ser)
n.594A>G
n.2219A>G
c.1567A>G
c.640A>G
 gnomAD v4
12g.6593104T>GCA383591581CHD4c.2600A>C (p.Asn867Thr)
c.2639A>C (p.Asn880Thr)
c.2630A>C (p.Asn877Thr)
c.2565A>C
c.2579A>C (p.Asn860Thr)
c.2618A>C (p.Asn873Thr)
c.1356A>C
c.2606A>C (p.Asn869Thr)
c.497A>C (p.Asn166Thr)
n.594A>C
n.2219A>C
c.1567A>C
c.640A>C
12g.6593105T>ACA383591590CHD4c.2599A>T (p.Asn867Tyr)
c.2638A>T (p.Asn880Tyr)
c.2629A>T (p.Asn877Tyr)
c.2564A>T
c.2578A>T (p.Asn860Tyr)
c.2617A>T (p.Asn873Tyr)
c.1355A>T
c.2605A>T (p.Asn869Tyr)
c.496A>T (p.Asn166Tyr)
n.593A>T
n.2218A>T
c.1566A>T
c.639A>T
12g.6593105T>CCA383591587CHD4c.2599A>G (p.Asn867Asp)
c.2638A>G (p.Asn880Asp)
c.2629A>G (p.Asn877Asp)
c.2564A>G
c.2578A>G (p.Asn860Asp)
c.2617A>G (p.Asn873Asp)
c.1355A>G
c.2605A>G (p.Asn869Asp)
c.496A>G (p.Asn166Asp)
n.593A>G
n.2218A>G
c.1566A>G
c.639A>G
12g.6593105T>GCA383591589CHD4c.2599A>C (p.Asn867His)
c.2638A>C (p.Asn880His)
c.2629A>C (p.Asn877His)
c.2564A>C
c.2578A>C (p.Asn860His)
c.2617A>C (p.Asn873His)
c.1355A>C
c.2605A>C (p.Asn869His)
c.496A>C (p.Asn166His)
n.593A>C
n.2218A>C
c.1566A>C
c.639A>C
12g.6593106C>ACA383591598CHD4c.2598G>T (p.Lys866Asn)
c.2637G>T (p.Lys879Asn)
c.2628G>T (p.Lys876Asn)
c.2563G>T
c.2577G>T (p.Lys859Asn)
c.2616G>T (p.Lys872Asn)
c.1354G>T
c.2604G>T (p.Lys868Asn)
c.495G>T (p.Lys165Asn)
n.592G>T
n.2217G>T
c.1565G>T
c.638G>T
12g.6593106C>GCA383591600CHD4c.2598G>C (p.Lys866Asn)
c.2637G>C (p.Lys879Asn)
c.2628G>C (p.Lys876Asn)
c.2563G>C
c.2577G>C (p.Lys859Asn)
c.2616G>C (p.Lys872Asn)
c.1354G>C
c.2604G>C (p.Lys868Asn)
c.495G>C (p.Lys165Asn)
n.592G>C
n.2217G>C
c.1565G>C
c.638G>C
12g.6593106C>TCA478131946CHD4c.2598G>A (p.Lys866=)
c.2637G>A (p.Lys879=)
c.2628G>A (p.Lys876=)
c.2563G>A
c.2577G>A (p.Lys859=)
c.2616G>A (p.Lys872=)
c.1354G>A
c.2604G>A (p.Lys868=)
c.495G>A (p.Lys165=)
n.592G>A
n.2217G>A
c.1565G>A
c.638G>A
12g.6593107T>ACA383591603CHD4c.2597A>T (p.Lys866Met)
c.2636A>T (p.Lys879Met)
c.2627A>T (p.Lys876Met)
c.2562A>T
c.2576A>T (p.Lys859Met)
c.2615A>T (p.Lys872Met)
c.1353A>T
c.2603A>T (p.Lys868Met)
c.494A>T (p.Lys165Met)
n.591A>T
n.2216A>T
c.1564A>T
c.637A>T
12g.6593107T>CCA383591607CHD4c.2597A>G (p.Lys866Arg)
c.2636A>G (p.Lys879Arg)
c.2627A>G (p.Lys876Arg)
c.2562A>G
c.2576A>G (p.Lys859Arg)
c.2615A>G (p.Lys872Arg)
c.1353A>G
c.2603A>G (p.Lys868Arg)
c.494A>G (p.Lys165Arg)
n.591A>G
n.2216A>G
c.1564A>G
c.637A>G
12g.6593107T>GCA383591614CHD4c.2597A>C (p.Lys866Thr)
c.2636A>C (p.Lys879Thr)
c.2627A>C (p.Lys876Thr)
c.2562A>C
c.2576A>C (p.Lys859Thr)
c.2615A>C (p.Lys872Thr)
c.1353A>C
c.2603A>C (p.Lys868Thr)
c.494A>C (p.Lys165Thr)
n.591A>C
n.2216A>C
c.1564A>C
c.637A>C
12g.6593108T>ACA383591621CHD4c.2596A>T (p.Lys866Ter)
c.2635A>T (p.Lys879Ter)
c.2626A>T (p.Lys876Ter)
c.2561A>T
c.2575A>T (p.Lys859Ter)
c.2614A>T (p.Lys872Ter)
c.1352A>T
c.2602A>T (p.Lys868Ter)
c.493A>T (p.Lys165Ter)
n.590A>T
n.2215A>T
c.1563A>T
c.636A>T
12g.6593108T>CCA383591624CHD4c.2596A>G (p.Lys866Glu)
c.2635A>G (p.Lys879Glu)
c.2626A>G (p.Lys876Glu)
c.2561A>G
c.2575A>G (p.Lys859Glu)
c.2614A>G (p.Lys872Glu)
c.1352A>G
c.2602A>G (p.Lys868Glu)
c.493A>G (p.Lys165Glu)
n.590A>G
n.2215A>G
c.1563A>G
c.636A>G
 dbSNP gnomAD v2
12g.6593108T>GCA383591629CHD4c.2596A>C (p.Lys866Gln)
c.2635A>C (p.Lys879Gln)
c.2626A>C (p.Lys876Gln)
c.2561A>C
c.2575A>C (p.Lys859Gln)
c.2614A>C (p.Lys872Gln)
c.1352A>C
c.2602A>C (p.Lys868Gln)
c.493A>C (p.Lys165Gln)
n.590A>C
n.2215A>C
c.1563A>C
c.636A>C
12g.6593108T=CA2014149177CHD4c.2596A= (p.Lys866=)
c.2635A= (p.Lys879=)
c.2626A= (p.Lys876=)
c.2561A=
c.2575A= (p.Lys859=)
c.2614A= (p.Lys872=)
c.1352A=
c.2602A= (p.Lys868=)
c.493A= (p.Lys165=)
n.590A=
n.2215A=
c.1563A=
c.636A=
12g.6593109C>ACA478131949CHD4c.2595G>T (p.Leu865=)
c.2634G>T (p.Leu878=)
c.2625G>T (p.Leu875=)
c.2560G>T
c.2574G>T (p.Leu858=)
c.2613G>T (p.Leu871=)
c.1351G>T
c.2601G>T (p.Leu867=)
c.492G>T (p.Leu164=)
n.589G>T
n.2214G>T
c.1562G>T
c.635G>T
12g.6593109C>GCA478131947CHD4c.2595G>C (p.Leu865=)
c.2634G>C (p.Leu878=)
c.2625G>C (p.Leu875=)
c.2560G>C
c.2574G>C (p.Leu858=)
c.2613G>C (p.Leu871=)
c.1351G>C
c.2601G>C (p.Leu867=)
c.492G>C (p.Leu164=)
n.589G>C
n.2214G>C
c.1562G>C
c.635G>C
12g.6593109C>TCA478131948CHD4c.2595G>A (p.Leu865=)
c.2634G>A (p.Leu878=)
c.2625G>A (p.Leu875=)
c.2560G>A
c.2574G>A (p.Leu858=)
c.2613G>A (p.Leu871=)
c.1351G>A
c.2601G>A (p.Leu867=)
c.492G>A (p.Leu164=)
n.589G>A
n.2214G>A
c.1562G>A
c.635G>A
12g.6593110A>CCA383591632CHD4c.2594T>G (p.Leu865Arg)
c.2633T>G (p.Leu878Arg)
c.2624T>G (p.Leu875Arg)
c.2559T>G
c.2573T>G (p.Leu858Arg)
c.2612T>G (p.Leu871Arg)
c.1350T>G
c.2600T>G (p.Leu867Arg)
c.491T>G (p.Leu164Arg)
n.588T>G
n.2213T>G
c.1561T>G
c.634T>G
 COSMIC COSMIC COSMIC
12g.6593110A>GCA383591635CHD4c.2594T>C (p.Leu865Pro)
c.2633T>C (p.Leu878Pro)
c.2624T>C (p.Leu875Pro)
c.2559T>C
c.2573T>C (p.Leu858Pro)
c.2612T>C (p.Leu871Pro)
c.1350T>C
c.2600T>C (p.Leu867Pro)
c.491T>C (p.Leu164Pro)
n.588T>C
n.2213T>C
c.1561T>C
c.634T>C
12g.6593110A>TCA383591638CHD4c.2594T>A (p.Leu865Gln)
c.2633T>A (p.Leu878Gln)
c.2624T>A (p.Leu875Gln)
c.2559T>A
c.2573T>A (p.Leu858Gln)
c.2612T>A (p.Leu871Gln)
c.1350T>A
c.2600T>A (p.Leu867Gln)
c.491T>A (p.Leu164Gln)
n.588T>A
n.2213T>A
c.1561T>A
c.634T>A
12g.6593111G>ACA6411934CHD4c.2593C>T (p.Leu865=)
c.2632C>T (p.Leu878=)
c.2623C>T (p.Leu875=)
c.2558C>T
c.2572C>T (p.Leu858=)
c.2611C>T (p.Leu871=)
c.1349C>T
c.2599C>T (p.Leu867=)
c.490C>T (p.Leu164=)
n.587C>T
n.2212C>T
c.1560C>T
c.633C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6593111G>CCA383591650CHD4c.2593C>G (p.Leu865Val)
c.2632C>G (p.Leu878Val)
c.2623C>G (p.Leu875Val)
c.2558C>G
c.2572C>G (p.Leu858Val)
c.2611C>G (p.Leu871Val)
c.1349C>G
c.2599C>G (p.Leu867Val)
c.490C>G (p.Leu164Val)
n.587C>G
n.2212C>G
c.1560C>G
c.633C>G
12g.6593111G=CA2014149179CHD4c.2593C= (p.Leu865=)
c.2632C= (p.Leu878=)
c.2623C= (p.Leu875=)
c.2558C=
c.2572C= (p.Leu858=)
c.2611C= (p.Leu871=)
c.1349C=
c.2599C= (p.Leu867=)
c.490C= (p.Leu164=)
n.587C=
n.2212C=
c.1560C=
c.633C=
12g.6593111G>TCA383591642CHD4c.2593C>A (p.Leu865Met)
c.2632C>A (p.Leu878Met)
c.2623C>A (p.Leu875Met)
c.2558C>A
c.2572C>A (p.Leu858Met)
c.2611C>A (p.Leu871Met)
c.1349C>A
c.2599C>A (p.Leu867Met)
c.490C>A (p.Leu164Met)
n.587C>A
n.2212C>A
c.1560C>A
c.633C>A
12g.6593112C>ACA478131950CHD4c.2592G>T (p.Arg864=)
c.2631G>T (p.Arg877=)
c.2622G>T (p.Arg874=)
c.2557G>T
c.2571G>T (p.Arg857=)
c.2610G>T (p.Arg870=)
c.1348G>T
c.2598G>T (p.Arg866=)
c.489G>T (p.Arg163=)
n.586G>T
n.2211G>T
c.1559G>T
c.632G>T
12g.6593112C=CA2014149182CHD4c.2592G= (p.Arg864=)
c.2631G= (p.Arg877=)
c.2622G= (p.Arg874=)
c.2557G=
c.2571G= (p.Arg857=)
c.2610G= (p.Arg870=)
c.1348G=
c.2598G= (p.Arg866=)
c.489G= (p.Arg163=)
n.586G=
n.2211G=
c.1559G=
c.632G=
12g.6593112C>GCA478131951CHD4c.2592G>C (p.Arg864=)
c.2631G>C (p.Arg877=)
c.2622G>C (p.Arg874=)
c.2557G>C
c.2571G>C (p.Arg857=)
c.2610G>C (p.Arg870=)
c.1348G>C
c.2598G>C (p.Arg866=)
c.489G>C (p.Arg163=)
n.586G>C
n.2211G>C
c.1559G>C
c.632G>C
12g.6593112C>TCA478131952CHD4c.2592G>A (p.Arg864=)
c.2631G>A (p.Arg877=)
c.2622G>A (p.Arg874=)
c.2557G>A
c.2571G>A (p.Arg857=)
c.2610G>A (p.Arg870=)
c.1348G>A
c.2598G>A (p.Arg866=)
c.489G>A (p.Arg163=)
n.586G>A
n.2211G>A
c.1559G>A
c.632G>A
 dbSNP gnomAD v3 gnomAD v4
12g.6593113C>ACA383591654CHD4c.2591G>T (p.Arg864Leu)
c.2630G>T (p.Arg877Leu)
c.2621G>T (p.Arg874Leu)
c.2556G>T
c.2570G>T (p.Arg857Leu)
c.2609G>T (p.Arg870Leu)
c.1347G>T
c.2597G>T (p.Arg866Leu)
c.488G>T (p.Arg163Leu)
n.585G>T
n.2210G>T
c.1558G>T
c.631G>T
12g.6593113C>GCA383591656CHD4c.2591G>C (p.Arg864Pro)
c.2630G>C (p.Arg877Pro)
c.2621G>C (p.Arg874Pro)
c.2556G>C
c.2570G>C (p.Arg857Pro)
c.2609G>C (p.Arg870Pro)
c.1347G>C
c.2597G>C (p.Arg866Pro)
c.488G>C (p.Arg163Pro)
n.585G>C
n.2210G>C
c.1558G>C
c.631G>C
12g.6593113C>TCA383591659CHD4c.2591G>A (p.Arg864Gln)
c.2630G>A (p.Arg877Gln)
c.2621G>A (p.Arg874Gln)
c.2556G>A
c.2570G>A (p.Arg857Gln)
c.2609G>A (p.Arg870Gln)
c.1347G>A
c.2597G>A (p.Arg866Gln)
c.488G>A (p.Arg163Gln)
n.585G>A
n.2210G>A
c.1558G>A
c.631G>A
 COSMIC COSMIC COSMIC
12g.6593114G>ACA383591663CHD4c.2590C>T (p.Arg864Trp)
c.2629C>T (p.Arg877Trp)
c.2620C>T (p.Arg874Trp)
c.2555C>T
c.2569C>T (p.Arg857Trp)
c.2608C>T (p.Arg870Trp)
c.1346C>T
c.2596C>T (p.Arg866Trp)
c.487C>T (p.Arg163Trp)
n.584C>T
n.2209C>T
c.1557C>T
c.630C>T
 COSMIC COSMIC COSMIC
12g.6593114G>CCA383591666CHD4c.2590C>G (p.Arg864Gly)
c.2629C>G (p.Arg877Gly)
c.2620C>G (p.Arg874Gly)
c.2555C>G
c.2569C>G (p.Arg857Gly)
c.2608C>G (p.Arg870Gly)
c.1346C>G
c.2596C>G (p.Arg866Gly)
c.487C>G (p.Arg163Gly)
n.584C>G
n.2209C>G
c.1557C>G
c.630C>G
12g.6593114G>TCA478131954CHD4c.2590C>A (p.Arg864=)
c.2629C>A (p.Arg877=)
c.2620C>A (p.Arg874=)
c.2555C>A
c.2569C>A (p.Arg857=)
c.2608C>A (p.Arg870=)
c.1346C>A
c.2596C>A (p.Arg866=)
c.487C>A (p.Arg163=)
n.584C>A
n.2209C>A
c.1557C>A
c.630C>A
12g.6593115A>CCA383591670CHD4c.2589T>G (p.His863Gln)
c.2628T>G (p.His876Gln)
c.2619T>G (p.His873Gln)
c.2554T>G
c.2568T>G (p.His856Gln)
c.2607T>G (p.His869Gln)
c.1345T>G
c.2595T>G (p.His865Gln)
c.486T>G (p.His162Gln)
n.583T>G
n.2208T>G
c.1556T>G
c.629T>G
12g.6593115A>GCA478131955CHD4c.2589T>C (p.His863=)
c.2628T>C (p.His876=)
c.2619T>C (p.His873=)
c.2554T>C
c.2568T>C (p.His856=)
c.2607T>C (p.His869=)
c.1345T>C
c.2595T>C (p.His865=)
c.486T>C (p.His162=)
n.583T>C
n.2208T>C
c.1556T>C
c.629T>C
12g.6593115A>TCA383591673CHD4c.2589T>A (p.His863Gln)
c.2628T>A (p.His876Gln)
c.2619T>A (p.His873Gln)
c.2554T>A
c.2568T>A (p.His856Gln)
c.2607T>A (p.His869Gln)
c.1345T>A
c.2595T>A (p.His865Gln)
c.486T>A (p.His162Gln)
n.583T>A
n.2208T>A
c.1556T>A
c.629T>A
12g.6593116T>ACA383591675CHD4c.2588A>T (p.His863Leu)
c.2627A>T (p.His876Leu)
c.2618A>T (p.His873Leu)
c.2553A>T
c.2567A>T (p.His856Leu)
c.2606A>T (p.His869Leu)
c.1344A>T
c.2594A>T (p.His865Leu)
c.485A>T (p.His162Leu)
n.582A>T
n.2207A>T
c.1555A>T
c.628A>T
12g.6593116T>CCA383591678CHD4c.2588A>G (p.His863Arg)
c.2627A>G (p.His876Arg)
c.2618A>G (p.His873Arg)
c.2553A>G
c.2567A>G (p.His856Arg)
c.2606A>G (p.His869Arg)
c.1344A>G
c.2594A>G (p.His865Arg)
c.485A>G (p.His162Arg)
n.582A>G
n.2207A>G
c.1555A>G
c.628A>G
 COSMIC COSMIC COSMIC
12g.6593116T>GCA383591693CHD4c.2588A>C (p.His863Pro)
c.2627A>C (p.His876Pro)
c.2618A>C (p.His873Pro)
c.2553A>C
c.2567A>C (p.His856Pro)
c.2606A>C (p.His869Pro)
c.1344A>C
c.2594A>C (p.His865Pro)
c.485A>C (p.His162Pro)
n.582A>C
n.2207A>C
c.1555A>C
c.628A>C
12g.6593117G>ACA383591694CHD4c.2587C>T (p.His863Tyr)
c.2626C>T (p.His876Tyr)
c.2617C>T (p.His873Tyr)
c.2552C>T
c.2566C>T (p.His856Tyr)
c.2605C>T (p.His869Tyr)
c.1343C>T
c.2593C>T (p.His865Tyr)
c.484C>T (p.His162Tyr)
n.581C>T
n.2206C>T
c.1554C>T
c.627C>T
12g.6593117G>CCA383591697CHD4c.2587C>G (p.His863Asp)
c.2626C>G (p.His876Asp)
c.2617C>G (p.His873Asp)
c.2552C>G
c.2566C>G (p.His856Asp)
c.2605C>G (p.His869Asp)
c.1343C>G
c.2593C>G (p.His865Asp)
c.484C>G (p.His162Asp)
n.581C>G
n.2206C>G
c.1554C>G
c.627C>G
12g.6593117G>TCA383591700CHD4c.2587C>A (p.His863Asn)
c.2626C>A (p.His876Asn)
c.2617C>A (p.His873Asn)
c.2552C>A
c.2566C>A (p.His856Asn)
c.2605C>A (p.His869Asn)
c.1343C>A
c.2593C>A (p.His865Asn)
c.484C>A (p.His162Asn)
n.581C>A
n.2206C>A
c.1554C>A
c.627C>A
12g.6593118G>ACA478131956CHD4c.2586C>T (p.Ala862=)
c.2625C>T (p.Ala875=)
c.2616C>T (p.Ala872=)
c.2551C>T
c.2565C>T (p.Ala855=)
c.2604C>T (p.Ala868=)
c.1342C>T
c.2592C>T (p.Ala864=)
c.483C>T (p.Ala161=)
n.580C>T
n.2205C>T
c.1553C>T
c.626C>T
 gnomAD v4
12g.6593118G>CCA478131957CHD4c.2586C>G (p.Ala862=)
c.2625C>G (p.Ala875=)
c.2616C>G (p.Ala872=)
c.2551C>G
c.2565C>G (p.Ala855=)
c.2604C>G (p.Ala868=)
c.1342C>G
c.2592C>G (p.Ala864=)
c.483C>G (p.Ala161=)
n.580C>G
n.2205C>G
c.1553C>G
c.626C>G
12g.6593118G>TCA478131958CHD4c.2586C>A (p.Ala862=)
c.2625C>A (p.Ala875=)
c.2616C>A (p.Ala872=)
c.2551C>A
c.2565C>A (p.Ala855=)
c.2604C>A (p.Ala868=)
c.1342C>A
c.2592C>A (p.Ala864=)
c.483C>A (p.Ala161=)
n.580C>A
n.2205C>A
c.1553C>A
c.626C>A
12g.6593119G>ACA383591708CHD4c.2585C>T (p.Ala862Val)
c.2624C>T (p.Ala875Val)
c.2615C>T (p.Ala872Val)
c.2550C>T
c.2564C>T (p.Ala855Val)
c.2603C>T (p.Ala868Val)
c.1341C>T
c.2591C>T (p.Ala864Val)
c.482C>T (p.Ala161Val)
n.579C>T
n.2204C>T
c.1552C>T
c.625C>T
12g.6593119G>CCA383591705CHD4c.2585C>G (p.Ala862Gly)
c.2624C>G (p.Ala875Gly)
c.2615C>G (p.Ala872Gly)
c.2550C>G
c.2564C>G (p.Ala855Gly)
c.2603C>G (p.Ala868Gly)
c.1341C>G
c.2591C>G (p.Ala864Gly)
c.482C>G (p.Ala161Gly)
n.579C>G
n.2204C>G
c.1552C>G
c.625C>G
12g.6593119G>TCA383591703CHD4c.2585C>A (p.Ala862Asp)
c.2624C>A (p.Ala875Asp)
c.2615C>A (p.Ala872Asp)
c.2550C>A
c.2564C>A (p.Ala855Asp)
c.2603C>A (p.Ala868Asp)
c.1341C>A
c.2591C>A (p.Ala864Asp)
c.482C>A (p.Ala161Asp)
n.579C>A
n.2204C>A
c.1552C>A
c.625C>A
12g.6593120C>ACA6411935CHD4c.2584G>T (p.Ala862Ser)
c.2623G>T (p.Ala875Ser)
c.2614G>T (p.Ala872Ser)
c.2549G>T
c.2563G>T (p.Ala855Ser)
c.2602G>T (p.Ala868Ser)
c.1340G>T
c.2590G>T (p.Ala864Ser)
c.481G>T (p.Ala161Ser)
n.578G>T
n.2203G>T
c.1551G>T
c.624G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6593120C=CA2014149185CHD4c.2584G= (p.Ala862=)
c.2623G= (p.Ala875=)
c.2614G= (p.Ala872=)
c.2549G=
c.2563G= (p.Ala855=)
c.2602G= (p.Ala868=)
c.1340G=
c.2590G= (p.Ala864=)
c.481G= (p.Ala161=)
n.578G=
n.2203G=
c.1551G=
c.624G=
12g.6593120C>GCA383591715CHD4c.2584G>C (p.Ala862Pro)
c.2623G>C (p.Ala875Pro)
c.2614G>C (p.Ala872Pro)
c.2549G>C
c.2563G>C (p.Ala855Pro)
c.2602G>C (p.Ala868Pro)
c.1340G>C
c.2590G>C (p.Ala864Pro)
c.481G>C (p.Ala161Pro)
n.578G>C
n.2203G>C
c.1551G>C
c.624G>C
12g.6593120C>TCA383591718CHD4c.2584G>A (p.Ala862Thr)
c.2623G>A (p.Ala875Thr)
c.2614G>A (p.Ala872Thr)
c.2549G>A
c.2563G>A (p.Ala855Thr)
c.2602G>A (p.Ala868Thr)
c.1340G>A
c.2590G>A (p.Ala864Thr)
c.481G>A (p.Ala161Thr)
n.578G>A
n.2203G>A
c.1551G>A
c.624G>A
 dbSNP
12g.6593121T>ACA383591721CHD4c.2583A>T (p.Glu861Asp)
c.2622A>T (p.Glu874Asp)
c.2613A>T (p.Glu871Asp)
c.2548A>T
c.2562A>T (p.Glu854Asp)
c.2601A>T (p.Glu867Asp)
c.1339A>T
c.2589A>T (p.Glu863Asp)
c.480A>T (p.Glu160Asp)
n.577A>T
n.2202A>T
c.1550A>T
c.623A>T
12g.6593121T>CCA478131959CHD4c.2583A>G (p.Glu861=)
c.2622A>G (p.Glu874=)
c.2613A>G (p.Glu871=)
c.2548A>G
c.2562A>G (p.Glu854=)
c.2601A>G (p.Glu867=)
c.1339A>G
c.2589A>G (p.Glu863=)
c.480A>G (p.Glu160=)
n.577A>G
n.2202A>G
c.1550A>G
c.623A>G
12g.6593121T>GCA383591723CHD4c.2583A>C (p.Glu861Asp)
c.2622A>C (p.Glu874Asp)
c.2613A>C (p.Glu871Asp)
c.2548A>C
c.2562A>C (p.Glu854Asp)
c.2601A>C (p.Glu867Asp)
c.1339A>C
c.2589A>C (p.Glu863Asp)
c.480A>C (p.Glu160Asp)
n.577A>C
n.2202A>C
c.1550A>C
c.623A>C
12g.6593122T>ACA383591729CHD4c.2582A>T (p.Glu861Val)
c.2621A>T (p.Glu874Val)
c.2612A>T (p.Glu871Val)
c.2547A>T
c.2561A>T (p.Glu854Val)
c.2600A>T (p.Glu867Val)
c.1338A>T
c.2588A>T (p.Glu863Val)
c.479A>T (p.Glu160Val)
n.576A>T
n.2201A>T
c.1549A>T
c.622A>T
12g.6593122T>CCA383591732CHD4c.2582A>G (p.Glu861Gly)
c.2621A>G (p.Glu874Gly)
c.2612A>G (p.Glu871Gly)
c.2547A>G
c.2561A>G (p.Glu854Gly)
c.2600A>G (p.Glu867Gly)
c.1338A>G
c.2588A>G (p.Glu863Gly)
c.479A>G (p.Glu160Gly)
n.576A>G
n.2201A>G
c.1549A>G
c.622A>G
12g.6593122T>GCA383591737CHD4c.2582A>C (p.Glu861Ala)
c.2621A>C (p.Glu874Ala)
c.2612A>C (p.Glu871Ala)
c.2547A>C
c.2561A>C (p.Glu854Ala)
c.2600A>C (p.Glu867Ala)
c.1338A>C
c.2588A>C (p.Glu863Ala)
c.479A>C (p.Glu160Ala)
n.576A>C
n.2201A>C
c.1549A>C
c.622A>C
12g.6593123C>ACA383591742CHD4c.2581G>T (p.Glu861Ter)
c.2620G>T (p.Glu874Ter)
c.2611G>T (p.Glu871Ter)
c.2546G>T
c.2560G>T (p.Glu854Ter)
c.2599G>T (p.Glu867Ter)
c.1337G>T
c.2587G>T (p.Glu863Ter)
c.478G>T (p.Glu160Ter)
n.575G>T
n.2200G>T
c.1548G>T
c.621G>T
12g.6593123C>GCA383591747CHD4c.2581G>C (p.Glu861Gln)
c.2620G>C (p.Glu874Gln)
c.2611G>C (p.Glu871Gln)
c.2546G>C
c.2560G>C (p.Glu854Gln)
c.2599G>C (p.Glu867Gln)
c.1337G>C
c.2587G>C (p.Glu863Gln)
c.478G>C (p.Glu160Gln)
n.575G>C
n.2200G>C
c.1548G>C
c.621G>C
12g.6593123C>TCA383591751CHD4c.2581G>A (p.Glu861Lys)
c.2620G>A (p.Glu874Lys)
c.2611G>A (p.Glu871Lys)
c.2546G>A
c.2560G>A (p.Glu854Lys)
c.2599G>A (p.Glu867Lys)
c.1337G>A
c.2587G>A (p.Glu863Lys)
c.478G>A (p.Glu160Lys)
n.575G>A
n.2200G>A
c.1548G>A
c.621G>A
12g.6593124A>CCA383591755CHD4c.2580T>G (p.Asp860Glu)
c.2619T>G (p.Asp873Glu)
c.2610T>G (p.Asp870Glu)
c.2545T>G
c.2559T>G (p.Asp853Glu)
c.2598T>G (p.Asp866Glu)
c.1336T>G
c.2586T>G (p.Asp862Glu)
c.477T>G (p.Asp159Glu)
n.574T>G
n.2199T>G
c.1547T>G
c.620T>G
12g.6593124A>GCA478131960CHD4c.2580T>C (p.Asp860=)
c.2619T>C (p.Asp873=)
c.2610T>C (p.Asp870=)
c.2545T>C
c.2559T>C (p.Asp853=)
c.2598T>C (p.Asp866=)
c.1336T>C
c.2586T>C (p.Asp862=)
c.477T>C (p.Asp159=)
n.574T>C
n.2199T>C
c.1547T>C
c.620T>C
12g.6593124A>TCA383591756CHD4c.2580T>A (p.Asp860Glu)
c.2619T>A (p.Asp873Glu)
c.2610T>A (p.Asp870Glu)
c.2545T>A
c.2559T>A (p.Asp853Glu)
c.2598T>A (p.Asp866Glu)
c.1336T>A
c.2586T>A (p.Asp862Glu)
c.477T>A (p.Asp159Glu)
n.574T>A
n.2199T>A
c.1547T>A
c.620T>A
12g.6593125T>ACA383591759CHD4c.2579A>T (p.Asp860Val)
c.2618A>T (p.Asp873Val)
c.2609A>T (p.Asp870Val)
c.2544A>T
c.2558A>T (p.Asp853Val)
c.2597A>T (p.Asp866Val)
c.1335A>T
c.2585A>T (p.Asp862Val)
c.476A>T (p.Asp159Val)
n.573A>T
n.2198A>T
c.1546A>T
c.619A>T
12g.6593125T>CCA383591763CHD4c.2579A>G (p.Asp860Gly)
c.2618A>G (p.Asp873Gly)
c.2609A>G (p.Asp870Gly)
c.2544A>G
c.2558A>G (p.Asp853Gly)
c.2597A>G (p.Asp866Gly)
c.1335A>G
c.2585A>G (p.Asp862Gly)
c.476A>G (p.Asp159Gly)
n.573A>G
n.2198A>G
c.1546A>G
c.619A>G
 COSMIC COSMIC COSMIC
12g.6593125T>GCA383591757CHD4c.2579A>C (p.Asp860Ala)
c.2618A>C (p.Asp873Ala)
c.2609A>C (p.Asp870Ala)
c.2544A>C
c.2558A>C (p.Asp853Ala)
c.2597A>C (p.Asp866Ala)
c.1335A>C
c.2585A>C (p.Asp862Ala)
c.476A>C (p.Asp159Ala)
n.573A>C
n.2198A>C
c.1546A>C
c.619A>C
12g.6593126C>ACA383591766CHD4c.2578G>T (p.Asp860Tyr)
c.2617G>T (p.Asp873Tyr)
c.2608G>T (p.Asp870Tyr)
c.2543G>T
c.2557G>T (p.Asp853Tyr)
c.2596G>T (p.Asp866Tyr)
c.1334G>T
c.2584G>T (p.Asp862Tyr)
c.475G>T (p.Asp159Tyr)
n.572G>T
n.2197G>T
c.1545G>T
c.618G>T
12g.6593126C>GCA383591767CHD4c.2578G>C (p.Asp860His)
c.2617G>C (p.Asp873His)
c.2608G>C (p.Asp870His)
c.2543G>C
c.2557G>C (p.Asp853His)
c.2596G>C (p.Asp866His)
c.1334G>C
c.2584G>C (p.Asp862His)
c.475G>C (p.Asp159His)
n.572G>C
n.2197G>C
c.1545G>C
c.618G>C
12g.6593126C>TCA383591768CHD4c.2578G>A (p.Asp860Asn)
c.2617G>A (p.Asp873Asn)
c.2608G>A (p.Asp870Asn)
c.2543G>A
c.2557G>A (p.Asp853Asn)
c.2596G>A (p.Asp866Asn)
c.1334G>A
c.2584G>A (p.Asp862Asn)
c.475G>A (p.Asp159Asn)
n.572G>A
n.2197G>A
c.1545G>A
c.618G>A
12g.6593127C>ACA478131961CHD4c.2577G>T (p.Val859=)
c.2616G>T (p.Val872=)
c.2607G>T (p.Val869=)
c.2542G>T
c.2556G>T (p.Val852=)
c.2595G>T (p.Val865=)
c.1333G>T
c.2583G>T (p.Val861=)
c.474G>T (p.Val158=)
n.571G>T
n.2196G>T
c.1544G>T
c.617G>T
12g.6593127C=CA2014149189CHD4c.2577G= (p.Val859=)
c.2616G= (p.Val872=)
c.2607G= (p.Val869=)
c.2542G=
c.2556G= (p.Val852=)
c.2595G= (p.Val865=)
c.1333G=
c.2583G= (p.Val861=)
c.474G= (p.Val158=)
n.571G=
n.2196G=
c.1544G=
c.617G=
12g.6593127C>GCA478131962CHD4c.2577G>C (p.Val859=)
c.2616G>C (p.Val872=)
c.2607G>C (p.Val869=)
c.2542G>C
c.2556G>C (p.Val852=)
c.2595G>C (p.Val865=)
c.1333G>C
c.2583G>C (p.Val861=)
c.474G>C (p.Val158=)
n.571G>C
n.2196G>C
c.1544G>C
c.617G>C
12g.6593127C>TCA478131963CHD4c.2577G>A (p.Val859=)
c.2616G>A (p.Val872=)
c.2607G>A (p.Val869=)
c.2542G>A
c.2556G>A (p.Val852=)
c.2595G>A (p.Val865=)
c.1333G>A
c.2583G>A (p.Val861=)
c.474G>A (p.Val158=)
n.571G>A
n.2196G>A
c.1544G>A
c.617G>A
 dbSNP gnomAD v2 gnomAD v4
12g.6593128A>CCA383591769CHD4c.2576T>G (p.Val859Gly)
c.2615T>G (p.Val872Gly)
c.2606T>G (p.Val869Gly)
c.2541T>G
c.2555T>G (p.Val852Gly)
c.2594T>G (p.Val865Gly)
c.1332T>G
c.2582T>G (p.Val861Gly)
c.473T>G (p.Val158Gly)
n.570T>G
n.2195T>G
c.1543T>G
c.616T>G
12g.6593128A>GCA383591770CHD4c.2576T>C (p.Val859Ala)
c.2615T>C (p.Val872Ala)
c.2606T>C (p.Val869Ala)
c.2541T>C
c.2555T>C (p.Val852Ala)
c.2594T>C (p.Val865Ala)
c.1332T>C
c.2582T>C (p.Val861Ala)
c.473T>C (p.Val158Ala)
n.570T>C
n.2195T>C
c.1543T>C
c.616T>C
12g.6593128A>TCA383591772CHD4c.2576T>A (p.Val859Glu)
c.2615T>A (p.Val872Glu)
c.2606T>A (p.Val869Glu)
c.2541T>A
c.2555T>A (p.Val852Glu)
c.2594T>A (p.Val865Glu)
c.1332T>A
c.2582T>A (p.Val861Glu)
c.473T>A (p.Val158Glu)
n.570T>A
n.2195T>A
c.1543T>A
c.616T>A
12g.6593129C>ACA383591776CHD4c.2575G>T (p.Val859Leu)
c.2614G>T (p.Val872Leu)
c.2605G>T (p.Val869Leu)
c.2540G>T
c.2554G>T (p.Val852Leu)
c.2593G>T (p.Val865Leu)
c.1331G>T
c.2581G>T (p.Val861Leu)
c.472G>T (p.Val158Leu)
n.569G>T
n.2194G>T
c.1542G>T
c.615G>T
12g.6593129C>GCA383591773CHD4c.2575G>C (p.Val859Leu)
c.2614G>C (p.Val872Leu)
c.2605G>C (p.Val869Leu)
c.2540G>C
c.2554G>C (p.Val852Leu)
c.2593G>C (p.Val865Leu)
c.1331G>C
c.2581G>C (p.Val861Leu)
c.472G>C (p.Val158Leu)
n.569G>C
n.2194G>C
c.1542G>C
c.615G>C
12g.6593129C>TCA383591774CHD4c.2575G>A (p.Val859Met)
c.2614G>A (p.Val872Met)
c.2605G>A (p.Val869Met)
c.2540G>A
c.2554G>A (p.Val852Met)
c.2593G>A (p.Val865Met)
c.1331G>A
c.2581G>A (p.Val861Met)
c.472G>A (p.Val158Met)
n.569G>A
n.2194G>A
c.1542G>A
c.615G>A
12g.6593130G>ACA6411936CHD4c.2574C>T (p.Ile858=)
c.2613C>T (p.Ile871=)
c.2604C>T (p.Ile868=)
c.2539C>T
c.2553C>T (p.Ile851=)
c.2592C>T (p.Ile864=)
c.1330C>T
c.2580C>T (p.Ile860=)
c.471C>T (p.Ile157=)
n.568C>T
n.2193C>T
c.1541C>T
c.614C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6593130G>CCA383591783CHD4c.2574C>G (p.Ile858Met)
c.2613C>G (p.Ile871Met)
c.2604C>G (p.Ile868Met)
c.2539C>G
c.2553C>G (p.Ile851Met)
c.2592C>G (p.Ile864Met)
c.1330C>G
c.2580C>G (p.Ile860Met)
c.471C>G (p.Ile157Met)
n.568C>G
n.2193C>G
c.1541C>G
c.614C>G
12g.6593130G=CA2014149192CHD4c.2574C= (p.Ile858=)
c.2613C= (p.Ile871=)
c.2604C= (p.Ile868=)
c.2539C=
c.2553C= (p.Ile851=)
c.2592C= (p.Ile864=)
c.1330C=
c.2580C= (p.Ile860=)
c.471C= (p.Ile157=)
n.568C=
n.2193C=
c.1541C=
c.614C=
12g.6593130G>TCA478131964CHD4c.2574C>A (p.Ile858=)
c.2613C>A (p.Ile871=)
c.2604C>A (p.Ile868=)
c.2539C>A
c.2553C>A (p.Ile851=)
c.2592C>A (p.Ile864=)
c.1330C>A
c.2580C>A (p.Ile860=)
c.471C>A (p.Ile157=)
n.568C>A
n.2193C>A
c.1541C>A
c.614C>A
12g.6593131A=CA2014149196CHD4c.2573T= (p.Ile858=)
c.2612T= (p.Ile871=)
c.2603T= (p.Ile868=)
c.2538T=
c.2552T= (p.Ile851=)
c.2591T= (p.Ile864=)
c.1329T=
c.2579T= (p.Ile860=)
c.470T= (p.Ile157=)
n.567T=
n.2192T=
c.1540T=
c.613T=
12g.6593131A>CCA383591785CHD4c.2573T>G (p.Ile858Ser)
c.2612T>G (p.Ile871Ser)
c.2603T>G (p.Ile868Ser)
c.2538T>G
c.2552T>G (p.Ile851Ser)
c.2591T>G (p.Ile864Ser)
c.1329T>G
c.2579T>G (p.Ile860Ser)
c.470T>G (p.Ile157Ser)
n.567T>G
n.2192T>G
c.1540T>G
c.613T>G
 dbSNP gnomAD v2 gnomAD v4
12g.6593131A>GCA383591787CHD4c.2573T>C (p.Ile858Thr)
c.2612T>C (p.Ile871Thr)
c.2603T>C (p.Ile868Thr)
c.2538T>C
c.2552T>C (p.Ile851Thr)
c.2591T>C (p.Ile864Thr)
c.1329T>C
c.2579T>C (p.Ile860Thr)
c.470T>C (p.Ile157Thr)
n.567T>C
n.2192T>C
c.1540T>C
c.613T>C
 dbSNP
12g.6593131A>TCA383591789CHD4c.2573T>A (p.Ile858Asn)
c.2612T>A (p.Ile871Asn)
c.2603T>A (p.Ile868Asn)
c.2538T>A
c.2552T>A (p.Ile851Asn)
c.2591T>A (p.Ile864Asn)
c.1329T>A
c.2579T>A (p.Ile860Asn)
c.470T>A (p.Ile157Asn)
n.567T>A
n.2192T>A
c.1540T>A
c.613T>A
12g.6593132T>ACA383591799CHD4c.2572A>T (p.Ile858Phe)
c.2611A>T (p.Ile871Phe)
c.2602A>T (p.Ile868Phe)
c.2537A>T
c.2551A>T (p.Ile851Phe)
c.2590A>T (p.Ile864Phe)
c.1328A>T
c.2578A>T (p.Ile860Phe)
c.469A>T (p.Ile157Phe)
n.566A>T
n.2191A>T
c.1539A>T
c.612A>T
12g.6593132T>CCA383591791CHD4c.2572A>G (p.Ile858Val)
c.2611A>G (p.Ile871Val)
c.2602A>G (p.Ile868Val)
c.2537A>G
c.2551A>G (p.Ile851Val)
c.2590A>G (p.Ile864Val)
c.1328A>G
c.2578A>G (p.Ile860Val)
c.469A>G (p.Ile157Val)
n.566A>G
n.2191A>G
c.1539A>G
c.612A>G
 dbSNP gnomAD v2 gnomAD v4
12g.6593132T>GCA383591794CHD4c.2572A>C (p.Ile858Leu)
c.2611A>C (p.Ile871Leu)
c.2602A>C (p.Ile868Leu)
c.2537A>C
c.2551A>C (p.Ile851Leu)
c.2590A>C (p.Ile864Leu)
c.1328A>C
c.2578A>C (p.Ile860Leu)
c.469A>C (p.Ile157Leu)
n.566A>C
n.2191A>C
c.1539A>C
c.612A>C
12g.6593132T=CA2014149198CHD4c.2572A= (p.Ile858=)
c.2611A= (p.Ile871=)
c.2602A= (p.Ile868=)
c.2537A=
c.2551A= (p.Ile851=)
c.2590A= (p.Ile864=)
c.1328A=
c.2578A= (p.Ile860=)
c.469A= (p.Ile157=)
n.566A=
n.2191A=
c.1539A=
c.612A=
12g.6593133G>ACA6411937CHD4c.2571C>T (p.Leu857=)
c.2610C>T (p.Leu870=)
c.2601C>T (p.Leu867=)
c.2536C>T
c.2550C>T (p.Leu850=)
c.2589C>T (p.Leu863=)
c.1327C>T
c.2577C>T (p.Leu859=)
c.468C>T (p.Leu156=)
n.565C>T
n.2190C>T
c.1538C>T
c.611C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6593133G>CCA478131967CHD4c.2571C>G (p.Leu857=)
c.2610C>G (p.Leu870=)
c.2601C>G (p.Leu867=)
c.2536C>G
c.2550C>G (p.Leu850=)
c.2589C>G (p.Leu863=)
c.1327C>G
c.2577C>G (p.Leu859=)
c.468C>G (p.Leu156=)
n.565C>G
n.2190C>G
c.1538C>G
c.611C>G
12g.6593133G=CA2014149201CHD4c.2571C= (p.Leu857=)
c.2610C= (p.Leu870=)
c.2601C= (p.Leu867=)
c.2536C=
c.2550C= (p.Leu850=)
c.2589C= (p.Leu863=)
c.1327C=
c.2577C= (p.Leu859=)
c.468C= (p.Leu156=)
n.565C=
n.2190C=
c.1538C=
c.611C=
12g.6593133G>TCA478131968CHD4c.2571C>A (p.Leu857=)
c.2610C>A (p.Leu870=)
c.2601C>A (p.Leu867=)
c.2536C>A
c.2550C>A (p.Leu850=)
c.2589C>A (p.Leu863=)
c.1327C>A
c.2577C>A (p.Leu859=)
c.468C>A (p.Leu156=)
n.565C>A
n.2190C>A
c.1538C>A
c.611C>A
 gnomAD v4
12g.6593134A=CA2014149204CHD4c.2570T= (p.Leu857=)
c.2609T= (p.Leu870=)
c.2600T= (p.Leu867=)
c.2535T=
c.2549T= (p.Leu850=)
c.2588T= (p.Leu863=)
c.1326T=
c.2576T= (p.Leu859=)
c.467T= (p.Leu156=)
n.564T=
n.2189T=
c.1537T=
c.610T=
12g.6593134A>CCA383591805CHD4c.2570T>G (p.Leu857Arg)
c.2609T>G (p.Leu870Arg)
c.2600T>G (p.Leu867Arg)
c.2535T>G
c.2549T>G (p.Leu850Arg)
c.2588T>G (p.Leu863Arg)
c.1326T>G
c.2576T>G (p.Leu859Arg)
c.467T>G (p.Leu156Arg)
n.564T>G
n.2189T>G
c.1537T>G
c.610T>G
12g.6593134A>GCA383591809CHD4c.2570T>C (p.Leu857Pro)
c.2609T>C (p.Leu870Pro)
c.2600T>C (p.Leu867Pro)
c.2535T>C
c.2549T>C (p.Leu850Pro)
c.2588T>C (p.Leu863Pro)
c.1326T>C
c.2576T>C (p.Leu859Pro)
c.467T>C (p.Leu156Pro)
n.564T>C
n.2189T>C
c.1537T>C
c.610T>C
12g.6593134A>TCA383591814CHD4c.2570T>A (p.Leu857His)
c.2609T>A (p.Leu870His)
c.2600T>A (p.Leu867His)
c.2535T>A
c.2549T>A (p.Leu850His)
c.2588T>A (p.Leu863His)
c.1326T>A
c.2576T>A (p.Leu859His)
c.467T>A (p.Leu156His)
n.564T>A
n.2189T>A
c.1537T>A
c.610T>A
 dbSNP
12g.6593135G>ACA383591818CHD4c.2569C>T (p.Leu857Phe)
c.2608C>T (p.Leu870Phe)
c.2599C>T (p.Leu867Phe)
c.2534C>T
c.2548C>T (p.Leu850Phe)
c.2587C>T (p.Leu863Phe)
c.1325C>T
c.2575C>T (p.Leu859Phe)
c.466C>T (p.Leu156Phe)
n.563C>T
n.2188C>T
c.1536C>T
c.609C>T
12g.6593135G>CCA383591822CHD4c.2569C>G (p.Leu857Val)
c.2608C>G (p.Leu870Val)
c.2599C>G (p.Leu867Val)
c.2534C>G
c.2548C>G (p.Leu850Val)
c.2587C>G (p.Leu863Val)
c.1325C>G
c.2575C>G (p.Leu859Val)
c.466C>G (p.Leu156Val)
n.563C>G
n.2188C>G
c.1536C>G
c.609C>G
12g.6593135G>TCA383591824CHD4c.2569C>A (p.Leu857Ile)
c.2608C>A (p.Leu870Ile)
c.2599C>A (p.Leu867Ile)
c.2534C>A
c.2548C>A (p.Leu850Ile)
c.2587C>A (p.Leu863Ile)
c.1325C>A
c.2575C>A (p.Leu859Ile)
c.466C>A (p.Leu156Ile)
n.563C>A
n.2188C>A
c.1536C>A
c.609C>A
12g.6593136G>ACA6411938CHD4c.2568C>T (p.Cys856=)
c.2607C>T (p.Cys869=)
c.2598C>T (p.Cys866=)
c.2533C>T
c.2547C>T (p.Cys849=)
c.2586C>T (p.Cys862=)
c.1324C>T
c.2574C>T (p.Cys858=)
c.465C>T (p.Cys155=)
n.562C>T
n.2187C>T
c.1535C>T
c.608C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6593136G>CCA383591827CHD4c.2568C>G (p.Cys856Trp)
c.2607C>G (p.Cys869Trp)
c.2598C>G (p.Cys866Trp)
c.2533C>G
c.2547C>G (p.Cys849Trp)
c.2586C>G (p.Cys862Trp)
c.1324C>G
c.2574C>G (p.Cys858Trp)
c.465C>G (p.Cys155Trp)
n.562C>G
n.2187C>G
c.1535C>G
c.608C>G
12g.6593136G=CA2014149206CHD4c.2568C= (p.Cys856=)
c.2607C= (p.Cys869=)
c.2598C= (p.Cys866=)
c.2533C=
c.2547C= (p.Cys849=)
c.2586C= (p.Cys862=)
c.1324C=
c.2574C= (p.Cys858=)
c.465C= (p.Cys155=)
n.562C=
n.2187C=
c.1535C=
c.608C=
12g.6593136G>TCA383591828CHD4c.2568C>A (p.Cys856Ter)
c.2607C>A (p.Cys869Ter)
c.2598C>A (p.Cys866Ter)
c.2533C>A
c.2547C>A (p.Cys849Ter)
c.2586C>A (p.Cys862Ter)
c.1324C>A
c.2574C>A (p.Cys858Ter)
c.465C>A (p.Cys155Ter)
n.562C>A
n.2187C>A
c.1535C>A
c.608C>A
12g.6593137C>ACA383591830CHD4c.2567G>T (p.Cys856Phe)
c.2606G>T (p.Cys869Phe)
c.2597G>T (p.Cys866Phe)
c.2532G>T
c.2546G>T (p.Cys849Phe)
c.2585G>T (p.Cys862Phe)
c.1323G>T
c.2573G>T (p.Cys858Phe)
c.464G>T (p.Cys155Phe)
n.561G>T
n.2186G>T
c.1534G>T
c.607G>T
12g.6593137C>GCA383591833CHD4c.2567G>C (p.Cys856Ser)
c.2606G>C (p.Cys869Ser)
c.2597G>C (p.Cys866Ser)
c.2532G>C
c.2546G>C (p.Cys849Ser)
c.2585G>C (p.Cys862Ser)
c.1323G>C
c.2573G>C (p.Cys858Ser)
c.464G>C (p.Cys155Ser)
n.561G>C
n.2186G>C
c.1534G>C
c.607G>C
12g.6593137C>TCA383591837CHD4c.2567G>A (p.Cys856Tyr)
c.2606G>A (p.Cys869Tyr)
c.2597G>A (p.Cys866Tyr)
c.2532G>A
c.2546G>A (p.Cys849Tyr)
c.2585G>A (p.Cys862Tyr)
c.1323G>A
c.2573G>A (p.Cys858Tyr)
c.464G>A (p.Cys155Tyr)
n.561G>A
n.2186G>A
c.1534G>A
c.607G>A
 gnomAD v4
12g.6593138A=CA2014149209CHD4c.2566T= (p.Cys856=)
c.2605T= (p.Cys869=)
c.2596T= (p.Cys866=)
c.2531T=
c.2545T= (p.Cys849=)
c.2584T= (p.Cys862=)
c.1322T=
c.2572T= (p.Cys858=)
c.463T= (p.Cys155=)
n.560T=
n.2185T=
c.1533T=
c.606T=
12g.6593138A>CCA232392911CHD4c.2566T>G (p.Cys856Gly)
c.2605T>G (p.Cys869Gly)
c.2596T>G (p.Cys866Gly)
c.2531T>G
c.2545T>G (p.Cys849Gly)
c.2584T>G (p.Cys862Gly)
c.1322T>G
c.2572T>G (p.Cys858Gly)
c.463T>G (p.Cys155Gly)
n.560T>G
n.2185T>G
c.1533T>G
c.606T>G
 dbSNP
12g.6593138A>GCA383591841CHD4c.2566T>C (p.Cys856Arg)
c.2605T>C (p.Cys869Arg)
c.2596T>C (p.Cys866Arg)
c.2531T>C
c.2545T>C (p.Cys849Arg)
c.2584T>C (p.Cys862Arg)
c.1322T>C
c.2572T>C (p.Cys858Arg)
c.463T>C (p.Cys155Arg)
n.560T>C
n.2185T>C
c.1533T>C
c.606T>C
12g.6593138A>TCA383591847CHD4c.2566T>A (p.Cys856Ser)
c.2605T>A (p.Cys869Ser)
c.2596T>A (p.Cys866Ser)
c.2531T>A
c.2545T>A (p.Cys849Ser)
c.2584T>A (p.Cys862Ser)
c.1322T>A
c.2572T>A (p.Cys858Ser)
c.463T>A (p.Cys155Ser)
n.560T>A
n.2185T>A
c.1533T>A
c.606T>A
12g.6593139G>ACA478131974CHD4c.2565C>T (p.Ala855=)
c.2604C>T (p.Ala868=)
c.2595C>T (p.Ala865=)
c.2530C>T
c.2544C>T (p.Ala848=)
c.2583C>T (p.Ala861=)
c.1321C>T
c.2571C>T (p.Ala857=)
c.462C>T (p.Ala154=)
n.559C>T
n.2184C>T
c.1532C>T
c.605C>T
12g.6593139G>CCA478131972CHD4c.2565C>G (p.Ala855=)
c.2604C>G (p.Ala868=)
c.2595C>G (p.Ala865=)
c.2530C>G
c.2544C>G (p.Ala848=)
c.2583C>G (p.Ala861=)
c.1321C>G
c.2571C>G (p.Ala857=)
c.462C>G (p.Ala154=)
n.559C>G
n.2184C>G
c.1532C>G
c.605C>G
12g.6593139G>TCA478131970CHD4c.2565C>A (p.Ala855=)
c.2604C>A (p.Ala868=)
c.2595C>A (p.Ala865=)
c.2530C>A
c.2544C>A (p.Ala848=)
c.2583C>A (p.Ala861=)
c.1321C>A
c.2571C>A (p.Ala857=)
c.462C>A (p.Ala154=)
n.559C>A
n.2184C>A
c.1532C>A
c.605C>A
12g.6593140G>ACA383591850CHD4c.2564C>T (p.Ala855Val)
c.2603C>T (p.Ala868Val)
c.2594C>T (p.Ala865Val)
c.2529C>T
c.2543C>T (p.Ala848Val)
c.2582C>T (p.Ala861Val)
c.1320C>T
c.2570C>T (p.Ala857Val)
c.461C>T (p.Ala154Val)
n.558C>T
n.2183C>T
c.1531C>T
c.604C>T
 gnomAD v4
12g.6593140G>CCA383591852CHD4c.2564C>G (p.Ala855Gly)
c.2603C>G (p.Ala868Gly)
c.2594C>G (p.Ala865Gly)
c.2529C>G
c.2543C>G (p.Ala848Gly)
c.2582C>G (p.Ala861Gly)
c.1320C>G
c.2570C>G (p.Ala857Gly)
c.461C>G (p.Ala154Gly)
n.558C>G
n.2183C>G
c.1531C>G
c.604C>G
12g.6593140G>TCA383591851CHD4c.2564C>A (p.Ala855Asp)
c.2603C>A (p.Ala868Asp)
c.2594C>A (p.Ala865Asp)
c.2529C>A
c.2543C>A (p.Ala848Asp)
c.2582C>A (p.Ala861Asp)
c.1320C>A
c.2570C>A (p.Ala857Asp)
c.461C>A (p.Ala154Asp)
n.558C>A
n.2183C>A
c.1531C>A
c.604C>A
12g.6593141C>ACA383591854CHD4c.2563G>T (p.Ala855Ser)
c.2602G>T (p.Ala868Ser)
c.2593G>T (p.Ala865Ser)
c.2528G>T
c.2542G>T (p.Ala848Ser)
c.2581G>T (p.Ala861Ser)
c.1319G>T
c.2569G>T (p.Ala857Ser)
c.460G>T (p.Ala154Ser)
n.557G>T
n.2182G>T
c.1530G>T
c.603G>T
12g.6593141C>GCA383591855CHD4c.2563G>C (p.Ala855Pro)
c.2602G>C (p.Ala868Pro)
c.2593G>C (p.Ala865Pro)
c.2528G>C
c.2542G>C (p.Ala848Pro)
c.2581G>C (p.Ala861Pro)
c.1319G>C
c.2569G>C (p.Ala857Pro)
c.460G>C (p.Ala154Pro)
n.557G>C
n.2182G>C
c.1530G>C
c.603G>C
12g.6593141C>TCA383591857CHD4c.2563G>A (p.Ala855Thr)
c.2602G>A (p.Ala868Thr)
c.2593G>A (p.Ala865Thr)
c.2528G>A
c.2542G>A (p.Ala848Thr)
c.2581G>A (p.Ala861Thr)
c.1319G>A
c.2569G>A (p.Ala857Thr)
c.460G>A (p.Ala154Thr)
n.557G>A
n.2182G>A
c.1530G>A
c.603G>A
 gnomAD v4
12g.6593142C>ACA383591858CHD4c.2562G>T (p.Trp854Cys)
c.2601G>T (p.Trp867Cys)
c.2592G>T (p.Trp864Cys)
c.2527G>T
c.2541G>T (p.Trp847Cys)
c.2580G>T (p.Trp860Cys)
c.1318G>T
c.2568G>T (p.Trp856Cys)
c.459G>T (p.Trp153Cys)
n.556G>T
n.2181G>T
c.1529G>T
c.602G>T
 COSMIC COSMIC COSMIC
12g.6593142C=CA2014149211CHD4c.2562G= (p.Trp854=)
c.2601G= (p.Trp867=)
c.2592G= (p.Trp864=)
c.2527G=
c.2541G= (p.Trp847=)
c.2580G= (p.Trp860=)
c.1318G=
c.2568G= (p.Trp856=)
c.459G= (p.Trp153=)
n.556G=
n.2181G=
c.1529G=
c.602G=
12g.6593142C>GCA383591859CHD4c.2562G>C (p.Trp854Cys)
c.2601G>C (p.Trp867Cys)
c.2592G>C (p.Trp864Cys)
c.2527G>C
c.2541G>C (p.Trp847Cys)
c.2580G>C (p.Trp860Cys)
c.1318G>C
c.2568G>C (p.Trp856Cys)
c.459G>C (p.Trp153Cys)
n.556G>C
n.2181G>C
c.1529G>C
c.602G>C
12g.6593142C>TCA383591861CHD4c.2562G>A (p.Trp854Ter)
c.2601G>A (p.Trp867Ter)
c.2592G>A (p.Trp864Ter)
c.2527G>A
c.2541G>A (p.Trp847Ter)
c.2580G>A (p.Trp860Ter)
c.1318G>A
c.2568G>A (p.Trp856Ter)
c.459G>A (p.Trp153Ter)
n.556G>A
n.2181G>A
c.1529G>A
c.602G>A
 dbSNP gnomAD v2
12g.6593143C>ACA383591862CHD4c.2561G>T (p.Trp854Leu)
c.2600G>T (p.Trp867Leu)
c.2591G>T (p.Trp864Leu)
c.2526G>T
c.2540G>T (p.Trp847Leu)
c.2579G>T (p.Trp860Leu)
c.1317G>T
c.2567G>T (p.Trp856Leu)
c.458G>T (p.Trp153Leu)
n.555G>T
n.2180G>T
c.1528G>T
c.601G>T
12g.6593143C>GCA383591863CHD4c.2561G>C (p.Trp854Ser)
c.2600G>C (p.Trp867Ser)
c.2591G>C (p.Trp864Ser)
c.2526G>C
c.2540G>C (p.Trp847Ser)
c.2579G>C (p.Trp860Ser)
c.1317G>C
c.2567G>C (p.Trp856Ser)
c.458G>C (p.Trp153Ser)
n.555G>C
n.2180G>C
c.1528G>C
c.601G>C
12g.6593143C>TCA383591865CHD4c.2561G>A (p.Trp854Ter)
c.2600G>A (p.Trp867Ter)
c.2591G>A (p.Trp864Ter)
c.2526G>A
c.2540G>A (p.Trp847Ter)
c.2579G>A (p.Trp860Ter)
c.1317G>A
c.2567G>A (p.Trp856Ter)
c.458G>A (p.Trp153Ter)
n.555G>A
n.2180G>A
c.1528G>A
c.601G>A
12g.6593144A>CCA383591866CHD4c.2560T>G (p.Trp854Gly)
c.2599T>G (p.Trp867Gly)
c.2590T>G (p.Trp864Gly)
c.2525T>G
c.2539T>G (p.Trp847Gly)
c.2578T>G (p.Trp860Gly)
c.1316T>G
c.2566T>G (p.Trp856Gly)
c.457T>G (p.Trp153Gly)
n.554T>G
n.2179T>G
c.1527T>G
c.600T>G
12g.6593144A>GCA383591868CHD4c.2560T>C (p.Trp854Arg)
c.2599T>C (p.Trp867Arg)
c.2590T>C (p.Trp864Arg)
c.2525T>C
c.2539T>C (p.Trp847Arg)
c.2578T>C (p.Trp860Arg)
c.1316T>C
c.2566T>C (p.Trp856Arg)
c.457T>C (p.Trp153Arg)
n.554T>C
n.2179T>C
c.1527T>C
c.600T>C
12g.6593144A>TCA383591871CHD4c.2560T>A (p.Trp854Arg)
c.2599T>A (p.Trp867Arg)
c.2590T>A (p.Trp864Arg)
c.2525T>A
c.2539T>A (p.Trp847Arg)
c.2578T>A (p.Trp860Arg)
c.1316T>A
c.2566T>A (p.Trp856Arg)
c.457T>A (p.Trp153Arg)
n.554T>A
n.2179T>A
c.1527T>A
c.600T>A
12g.6593145A>CCA383591874CHD4c.2559T>G (p.Asp853Glu)
c.2598T>G (p.Asp866Glu)
c.2589T>G (p.Asp863Glu)
c.2524T>G
c.2538T>G (p.Asp846Glu)
c.2577T>G (p.Asp859Glu)
c.1315T>G
c.2565T>G (p.Asp855Glu)
c.456T>G (p.Asp152Glu)
n.553T>G
n.2178T>G
c.1526T>G
c.599T>G
12g.6593145A>GCA478131975CHD4c.2559T>C (p.Asp853=)
c.2598T>C (p.Asp866=)
c.2589T>C (p.Asp863=)
c.2524T>C
c.2538T>C (p.Asp846=)
c.2577T>C (p.Asp859=)
c.1315T>C
c.2565T>C (p.Asp855=)
c.456T>C (p.Asp152=)
n.553T>C
n.2178T>C
c.1526T>C
c.599T>C
12g.6593145A>TCA383591881CHD4c.2559T>A (p.Asp853Glu)
c.2598T>A (p.Asp866Glu)
c.2589T>A (p.Asp863Glu)
c.2524T>A
c.2538T>A (p.Asp846Glu)
c.2577T>A (p.Asp859Glu)
c.1315T>A
c.2565T>A (p.Asp855Glu)
c.456T>A (p.Asp152Glu)
n.553T>A
n.2178T>A
c.1526T>A
c.599T>A
12g.6593146T>ACA383591886CHD4c.2558A>T (p.Asp853Val)
c.2597A>T (p.Asp866Val)
c.2588A>T (p.Asp863Val)
c.2523A>T
c.2537A>T (p.Asp846Val)
c.2576A>T (p.Asp859Val)
c.1314A>T
c.2564A>T (p.Asp855Val)
c.455A>T (p.Asp152Val)
n.552A>T
n.2177A>T
c.1525A>T
c.598A>T
12g.6593146T>CCA383591891CHD4c.2558A>G (p.Asp853Gly)
c.2597A>G (p.Asp866Gly)
c.2588A>G (p.Asp863Gly)
c.2523A>G
c.2537A>G (p.Asp846Gly)
c.2576A>G (p.Asp859Gly)
c.1314A>G
c.2564A>G (p.Asp855Gly)
c.455A>G (p.Asp152Gly)
n.552A>G
n.2177A>G
c.1525A>G
c.598A>G
12g.6593146T>GCA383591893CHD4c.2558A>C (p.Asp853Ala)
c.2597A>C (p.Asp866Ala)
c.2588A>C (p.Asp863Ala)
c.2523A>C
c.2537A>C (p.Asp846Ala)
c.2576A>C (p.Asp859Ala)
c.1314A>C
c.2564A>C (p.Asp855Ala)
c.455A>C (p.Asp152Ala)
n.552A>C
n.2177A>C
c.1525A>C
c.598A>C
12g.6593147C>ACA383591901CHD4c.2557G>T (p.Asp853Tyr)
c.2596G>T (p.Asp866Tyr)
c.2587G>T (p.Asp863Tyr)
c.2522G>T
c.2536G>T (p.Asp846Tyr)
c.2575G>T (p.Asp859Tyr)
c.1313G>T
c.2563G>T (p.Asp855Tyr)
c.454G>T (p.Asp152Tyr)
n.551G>T
n.2176G>T
c.1524G>T
c.597G>T
12g.6593147C>GCA383591904CHD4c.2557G>C (p.Asp853His)
c.2596G>C (p.Asp866His)
c.2587G>C (p.Asp863His)
c.2522G>C
c.2536G>C (p.Asp846His)
c.2575G>C (p.Asp859His)
c.1313G>C
c.2563G>C (p.Asp855His)
c.454G>C (p.Asp152His)
n.551G>C
n.2176G>C
c.1524G>C
c.597G>C
12g.6593147C>TCA383591909CHD4c.2557G>A (p.Asp853Asn)
c.2596G>A (p.Asp866Asn)
c.2587G>A (p.Asp863Asn)
c.2522G>A
c.2536G>A (p.Asp846Asn)
c.2575G>A (p.Asp859Asn)
c.1313G>A
c.2563G>A (p.Asp855Asn)
c.454G>A (p.Asp152Asn)
n.551G>A
n.2176G>A
c.1524G>A
c.597G>A
 gnomAD v4
12g.6593148A>CCA383591912CHD4c.2556T>G (p.Ile852Met)
c.2595T>G (p.Ile865Met)
c.2586T>G (p.Ile862Met)
c.2521T>G
c.2535T>G (p.Ile845Met)
c.2574T>G (p.Ile858Met)
c.1312T>G
c.2562T>G (p.Ile854Met)
c.453T>G (p.Ile151Met)
n.550T>G
n.2175T>G
c.1523T>G
c.596T>G
12g.6593148A>GCA478131977CHD4c.2556T>C (p.Ile852=)
c.2595T>C (p.Ile865=)
c.2586T>C (p.Ile862=)
c.2521T>C
c.2535T>C (p.Ile845=)
c.2574T>C (p.Ile858=)
c.1312T>C
c.2562T>C (p.Ile854=)
c.453T>C (p.Ile151=)
n.550T>C
n.2175T>C
c.1523T>C
c.596T>C
 gnomAD v4
12g.6593148A>TCA478131979CHD4c.2556T>A (p.Ile852=)
c.2595T>A (p.Ile865=)
c.2586T>A (p.Ile862=)
c.2521T>A
c.2535T>A (p.Ile845=)
c.2574T>A (p.Ile858=)
c.1312T>A
c.2562T>A (p.Ile854=)
c.453T>A (p.Ile151=)
n.550T>A
n.2175T>A
c.1523T>A
c.596T>A
12g.6593149A=CA2014149214CHD4c.2555T= (p.Ile852=)
c.2594T= (p.Ile865=)
c.2585T= (p.Ile862=)
c.2520T=
c.2534T= (p.Ile845=)
c.2573T= (p.Ile858=)
c.1311T=
c.2561T= (p.Ile854=)
c.452T= (p.Ile151=)
n.549T=
n.2174T=
c.1522T=
c.595T=
12g.6593149A>CCA383591917CHD4c.2555T>G (p.Ile852Ser)
c.2594T>G (p.Ile865Ser)
c.2585T>G (p.Ile862Ser)
c.2520T>G
c.2534T>G (p.Ile845Ser)
c.2573T>G (p.Ile858Ser)
c.1311T>G
c.2561T>G (p.Ile854Ser)
c.452T>G (p.Ile151Ser)
n.549T>G
n.2174T>G
c.1522T>G
c.595T>G
12g.6593149A>GCA383591919CHD4c.2555T>C (p.Ile852Thr)
c.2594T>C (p.Ile865Thr)
c.2585T>C (p.Ile862Thr)
c.2520T>C
c.2534T>C (p.Ile845Thr)
c.2573T>C (p.Ile858Thr)
c.1311T>C
c.2561T>C (p.Ile854Thr)
c.452T>C (p.Ile151Thr)
n.549T>C
n.2174T>C
c.1522T>C
c.595T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6593149A>TCA383591922CHD4c.2555T>A (p.Ile852Asn)
c.2594T>A (p.Ile865Asn)
c.2585T>A (p.Ile862Asn)
c.2520T>A
c.2534T>A (p.Ile845Asn)
c.2573T>A (p.Ile858Asn)
c.1311T>A
c.2561T>A (p.Ile854Asn)
c.452T>A (p.Ile151Asn)
n.549T>A
n.2174T>A
c.1522T>A
c.595T>A

Number of alleles fetched