Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6593040A>G | CA2617296567 | CHD4 | c.2613+51T>C (n.2613+51T>C) c.2652+51T>C (n.2652+51T>C) c.2643+51T>C (n.2643+51T>C) c.2578+51T>C c.2592+51T>C (n.2592+51T>C) c.2631+51T>C (n.2631+51T>C) c.1369+51T>C c.2619+51T>C (n.2619+51T>C) c.510+51T>C (n.510+51T>C) n.607+51T>C n.2232+51T>C c.1580+51T>C c.653+51T>C | gnomAD v4 |
12 | g.6593041del | CA2617296568 | CHD4 | c.2613+50del (n.2613+50del) c.2652+50del (n.2652+50del) c.2643+50del (n.2643+50del) c.2578+50del c.2592+50del (n.2592+50del) c.2631+50del (n.2631+50del) c.1369+50del c.2619+50del (n.2619+50del) c.510+50del (n.510+50del) n.607+50del n.2232+50del c.1580+50del c.653+50del | gnomAD v4 |
12 | g.6593041C>A | CA2617296569 | CHD4 | c.2613+50G>T (n.2613+50G>T) c.2652+50G>T (n.2652+50G>T) c.2643+50G>T (n.2643+50G>T) c.2578+50G>T c.2592+50G>T (n.2592+50G>T) c.2631+50G>T (n.2631+50G>T) c.1369+50G>T c.2619+50G>T (n.2619+50G>T) c.510+50G>T (n.510+50G>T) n.607+50G>T n.2232+50G>T c.1580+50G>T c.653+50G>T | gnomAD v4 |
12 | g.6593041C= | CA2014149093 | CHD4 | c.2613+50G= (n.2613+50G=) c.2652+50G= (n.2652+50G=) c.2643+50G= (n.2643+50G=) c.2578+50G= c.2592+50G= (n.2592+50G=) c.2631+50G= (n.2631+50G=) c.1369+50G= c.2619+50G= (n.2619+50G=) c.510+50G= (n.510+50G=) n.607+50G= n.2232+50G= c.1580+50G= c.653+50G= | |
12 | g.6593041C>G | CA2617296570 | CHD4 | c.2613+50G>C (n.2613+50G>C) c.2652+50G>C (n.2652+50G>C) c.2643+50G>C (n.2643+50G>C) c.2578+50G>C c.2592+50G>C (n.2592+50G>C) c.2631+50G>C (n.2631+50G>C) c.1369+50G>C c.2619+50G>C (n.2619+50G>C) c.510+50G>C (n.510+50G>C) n.607+50G>C n.2232+50G>C c.1580+50G>C c.653+50G>C | gnomAD v4 |
12 | g.6593041C>T | CA603485101 | CHD4 | c.2613+50G>A (n.2613+50G>A) c.2652+50G>A (n.2652+50G>A) c.2643+50G>A (n.2643+50G>A) c.2578+50G>A c.2592+50G>A (n.2592+50G>A) c.2631+50G>A (n.2631+50G>A) c.1369+50G>A c.2619+50G>A (n.2619+50G>A) c.510+50G>A (n.510+50G>A) n.607+50G>A n.2232+50G>A c.1580+50G>A c.653+50G>A | dbSNP gnomAD v2 |
12 | g.6593042del | CA2617296571 | CHD4 | c.2613+49del (n.2613+49del) c.2652+49del (n.2652+49del) c.2643+49del (n.2643+49del) c.2578+49del c.2592+49del (n.2592+49del) c.2631+49del (n.2631+49del) c.1369+49del c.2619+49del (n.2619+49del) c.510+49del (n.510+49del) n.607+49del n.2232+49del c.1580+49del c.653+49del | gnomAD v4 |
12 | g.6593042T>C | CA2014149097 | CHD4 | c.2613+49A>G (n.2613+49A>G) c.2652+49A>G (n.2652+49A>G) c.2643+49A>G (n.2643+49A>G) c.2578+49A>G c.2592+49A>G (n.2592+49A>G) c.2631+49A>G (n.2631+49A>G) c.1369+49A>G c.2619+49A>G (n.2619+49A>G) c.510+49A>G (n.510+49A>G) n.607+49A>G n.2232+49A>G c.1580+49A>G c.653+49A>G | dbSNP |
12 | g.6593042T= | CA2014149096 | CHD4 | c.2613+49A= (n.2613+49A=) c.2652+49A= (n.2652+49A=) c.2643+49A= (n.2643+49A=) c.2578+49A= c.2592+49A= (n.2592+49A=) c.2631+49A= (n.2631+49A=) c.1369+49A= c.2619+49A= (n.2619+49A=) c.510+49A= (n.510+49A=) n.607+49A= n.2232+49A= c.1580+49A= c.653+49A= | |
12 | g.6593044G>C | CA2014149100 | CHD4 | c.2613+47C>G (n.2613+47C>G) c.2652+47C>G (n.2652+47C>G) c.2643+47C>G (n.2643+47C>G) c.2578+47C>G c.2592+47C>G (n.2592+47C>G) c.2631+47C>G (n.2631+47C>G) c.1369+47C>G c.2619+47C>G (n.2619+47C>G) c.510+47C>G (n.510+47C>G) n.607+47C>G n.2232+47C>G c.1580+47C>G c.653+47C>G | dbSNP gnomAD v4 |
12 | g.6593044G= | CA2014149099 | CHD4 | c.2613+47C= (n.2613+47C=) c.2652+47C= (n.2652+47C=) c.2643+47C= (n.2643+47C=) c.2578+47C= c.2592+47C= (n.2592+47C=) c.2631+47C= (n.2631+47C=) c.1369+47C= c.2619+47C= (n.2619+47C=) c.510+47C= (n.510+47C=) n.607+47C= n.2232+47C= c.1580+47C= c.653+47C= | |
12 | g.6593050dup | CA2575058106 | CHD4 | c.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 |
12 | g.6593046A= | CA2014149102 | CHD4 | c.2613+45T= (n.2613+45T=) c.2652+45T= (n.2652+45T=) c.2643+45T= (n.2643+45T=) c.2578+45T= c.2592+45T= (n.2592+45T=) c.2631+45T= (n.2631+45T=) c.1369+45T= c.2619+45T= (n.2619+45T=) c.510+45T= (n.510+45T=) n.607+45T= n.2232+45T= c.1580+45T= c.653+45T= | |
12 | g.6593046A>T | CA6411927 | CHD4 | c.2613+45T>A (n.2613+45T>A) c.2652+45T>A (n.2652+45T>A) c.2643+45T>A (n.2643+45T>A) c.2578+45T>A c.2592+45T>A (n.2592+45T>A) c.2631+45T>A (n.2631+45T>A) c.1369+45T>A c.2619+45T>A (n.2619+45T>A) c.510+45T>A (n.510+45T>A) n.607+45T>A n.2232+45T>A c.1580+45T>A c.653+45T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6593049A= | CA2014149107 | CHD4 | c.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= | |
12 | g.6593049A>C | CA232392883 | CHD4 | c.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 |
12 | g.6593051C>A | CA603485102 | CHD4 | c.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 |
12 | g.6593051C= | CA2014149112 | CHD4 | c.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= | |
12 | g.6593051C>T | CA2575058107 | CHD4 | c.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 |
12 | g.6593052C>A | CA2617296572 | CHD4 | c.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 |
12 | g.6593052C= | CA2014149114 | CHD4 | c.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= | |
12 | g.6593052C>T | CA603485103 | CHD4 | c.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 |
12 | g.6593053C>G | CA2617296573 | CHD4 | c.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 |
12 | g.6593054A= | CA2014149116 | CHD4 | c.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= | |
12 | g.6593054A>C | CA603485104 | CHD4 | c.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 |
12 | g.6593054A>G | CA944367707 | CHD4 | c.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 |
12 | g.6593055A>C | CA2575058108 | CHD4 | c.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 |
12 | g.6593055A>T | CA2575058109 | CHD4 | c.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 | |
12 | g.6593057del | CA2794422102 | CHD4 | c.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 | |
12 | g.6593057G>C | CA691054850 | CHD4 | c.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 |
12 | g.6593057G= | CA2014149118 | CHD4 | c.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= | |
12 | g.6593058T>C | CA2014149122 | CHD4 | c.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 |
12 | g.6593058T= | CA2014149121 | CHD4 | c.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= | |
12 | g.6593059G>A | CA944367708 | CHD4 | c.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 |
12 | g.6593059G= | CA2014149124 | CHD4 | c.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= | |
12 | g.6593059G>T | CA2617296574 | CHD4 | c.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 |
12 | g.6593061G>A | CA232392896 | CHD4 | c.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 |
12 | g.6593061G= | CA2014149125 | CHD4 | c.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= | |
12 | g.6593061G>T | CA2617296575 | CHD4 | c.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 |
12 | g.6593062G>T | CA2617296576 | CHD4 | c.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 |
12 | g.6593063G>A | CA6411928 | CHD4 | c.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 |
12 | g.6593063G>C | CA6411929 | CHD4 | c.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 |
12 | g.6593063G= | CA2014149130 | CHD4 | c.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= | |
12 | g.6593063G>T | CA691054853 | CHD4 | c.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 |
12 | g.6593064C= | CA2014149135 | CHD4 | c.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= | |
12 | g.6593064C>T | CA603485105 | CHD4 | c.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 |
12 | g.6593064dup | CA2617296577 | CHD4 | c.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 |
12 | g.6593067C>A | CA2617296578 | CHD4 | c.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 |
12 | g.6593067C>T | CA2617296579 | CHD4 | c.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 |
12 | g.6593069dup | CA2617296580 | CHD4 | c.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 |
12 | g.6593069A>G | CA2575058110 | CHD4 | c.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 | |
12 | g.6593070C>A | CA2575058111 | CHD4 | c.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 | |
12 | g.6593071A>G | CA2794422103 | CHD4 | c.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 | |
12 | g.6593073C>A | CA6411930 | CHD4 | c.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 |
12 | g.6593073C= | CA2014149140 | CHD4 | c.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= | |
12 | g.6593073C>T | CA6411931 | CHD4 | c.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 |
12 | g.6593074C>G | CA2575058112 | CHD4 | c.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 | |
12 | g.6593074C>T | CA2741226790 | CHD4 | c.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 | |
12 | g.6593075C>A | CA2617296581 | CHD4 | c.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 |
12 | g.6593075C= | CA2014149143 | CHD4 | c.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= | |
12 | g.6593075C>G | CA603485106 | CHD4 | c.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 |
12 | g.6593076T>A | CA2617296582 | CHD4 | c.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 |
12 | g.6593076_6593077delinsTC | CA2014149144 | CHD4 | c.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 | |
12 | g.6593077C>A | CA6411932 | CHD4 | c.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 |
12 | g.6593077C= | CA2014149147 | CHD4 | c.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= | |
12 | g.6593077C>G | CA2014149149 | CHD4 | c.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 |
12 | g.6593079del | CA603485107 | CHD4 | c.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 |
12 | g.6593078C>A | CA2794422104 | CHD4 | c.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 | |
12 | g.6593078C>T | CA2617296583 | CHD4 | c.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 |
12 | g.6593079C>A | CA2617296584 | CHD4 | c.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 |
12 | g.6593079C= | CA2014149151 | CHD4 | c.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= | |
12 | g.6593079C>G | CA603485108 | CHD4 | c.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 |
12 | g.6593081C= | CA2014149153 | CHD4 | c.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= | |
12 | g.6593081C>G | CA944367714 | CHD4 | c.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 |
12 | g.6593082A= | CA2014149155 | CHD4 | c.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= | |
12 | g.6593082A>C | CA232392906 | CHD4 | c.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 |
12 | g.6593084C>A | CA2617296585 | CHD4 | c.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 |
12 | g.6593084C= | CA2014149157 | CHD4 | c.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= | |
12 | g.6593084C>T | CA232392908 | CHD4 | c.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 |
12 | g.6593085C= | CA2014149159 | CHD4 | c.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= | |
12 | g.6593085C>G | CA2014149160 | CHD4 | c.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 |
12 | g.6593087T>A | CA603485109 | CHD4 | c.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 |
12 | g.6593087T= | CA2014149162 | CHD4 | c.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= | |
12 | g.6593088C>T | CA2617296586 | CHD4 | c.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 |
12 | g.6593089A= | CA2014149165 | CHD4 | c.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= | |
12 | g.6593089A>C | CA383591409 | CHD4 | c.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 |
12 | g.6593089A>G | CA383591411 | CHD4 | c.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 | |
12 | g.6593089A>T | CA383591412 | CHD4 | c.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 | |
12 | g.6593090C>A | CA383591426 | CHD4 | c.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 | |
12 | g.6593090C>G | CA383591419 | CHD4 | c.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 | |
12 | g.6593090C>T | CA383591422 | CHD4 | c.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 | |
12 | g.6593091C>A | CA383591430 | CHD4 | c.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 | |
12 | g.6593091C>G | CA383591432 | CHD4 | c.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 | |
12 | g.6593091C>T | CA478131939 | CHD4 | c.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 | |
12 | g.6593092T>A | CA383591436 | CHD4 | c.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 | |
12 | g.6593092T>C | CA383591455 | CHD4 | c.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 | |
12 | g.6593092T>G | CA383591459 | CHD4 | c.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 | |
12 | g.6593093T>A | CA383591472 | CHD4 | c.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 | |
12 | g.6593093T>C | CA383591491 | CHD4 | c.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 | |
12 | g.6593093T>G | CA383591487 | CHD4 | c.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 | |
12 | g.6593094A>C | CA478131940 | CHD4 | c.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 | |
12 | g.6593094A>G | CA478131942 | CHD4 | c.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 | |
12 | g.6593094A>T | CA478131941 | CHD4 | c.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 | |
12 | g.6593095G>A | CA383591496 | CHD4 | c.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 |
12 | g.6593095G>C | CA383591501 | CHD4 | c.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 | |
12 | g.6593095G>T | CA383591502 | CHD4 | c.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 | |
12 | g.6593096A>C | CA383591504 | CHD4 | c.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 | |
12 | g.6593096A>G | CA383591506 | CHD4 | c.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 | |
12 | g.6593096A>T | CA383591509 | CHD4 | c.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 | |
12 | g.6593097C>A | CA6411933 | CHD4 | c.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 |
12 | g.6593097C= | CA2014149168 | CHD4 | c.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= | |
12 | g.6593097C>G | CA383591511 | CHD4 | c.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 |
12 | g.6593097C>T | CA478131943 | CHD4 | c.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 | |
12 | g.6593098T>A | CA383591514 | CHD4 | c.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 | |
12 | g.6593098T>C | CA383591528 | CHD4 | c.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 | |
12 | g.6593098T>G | CA383591530 | CHD4 | c.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 | |
12 | g.6593099G>A | CA383591535 | CHD4 | c.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 |
12 | g.6593099G>C | CA383591543 | CHD4 | c.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 | |
12 | g.6593099G>T | CA383591539 | CHD4 | c.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 | |
12 | g.6593100A>C | CA383591546 | CHD4 | c.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 | |
12 | g.6593100A>G | CA478131944 | CHD4 | c.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 |
12 | g.6593100A>T | CA383591549 | CHD4 | c.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 | |
12 | g.6593101T>A | CA383591553 | CHD4 | c.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 | |
12 | g.6593101T>C | CA383591555 | CHD4 | c.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 |
12 | g.6593101T>G | CA383591557 | CHD4 | c.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 | |
12 | g.6593101T= | CA2014149171 | CHD4 | c.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= | |
12 | g.6593102T>A | CA383591558 | CHD4 | c.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 | |
12 | g.6593102T>C | CA383591559 | CHD4 | c.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 | |
12 | g.6593102T>G | CA383591561 | CHD4 | c.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 | |
12 | g.6593103G>A | CA478131945 | CHD4 | c.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 |
12 | g.6593103G>C | CA383591565 | CHD4 | c.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 | |
12 | g.6593103G= | CA2014149174 | CHD4 | c.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= | |
12 | g.6593103G>T | CA383591567 | CHD4 | c.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 | |
12 | g.6593104T>A | CA383591570 | CHD4 | c.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 | |
12 | g.6593104T>C | CA383591573 | CHD4 | c.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 |
12 | g.6593104T>G | CA383591581 | CHD4 | c.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 | |
12 | g.6593105T>A | CA383591590 | CHD4 | c.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 | |
12 | g.6593105T>C | CA383591587 | CHD4 | c.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 | |
12 | g.6593105T>G | CA383591589 | CHD4 | c.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 | |
12 | g.6593106C>A | CA383591598 | CHD4 | c.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 | |
12 | g.6593106C>G | CA383591600 | CHD4 | c.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 | |
12 | g.6593106C>T | CA478131946 | CHD4 | c.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 | |
12 | g.6593107T>A | CA383591603 | CHD4 | c.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 | |
12 | g.6593107T>C | CA383591607 | CHD4 | c.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 | |
12 | g.6593107T>G | CA383591614 | CHD4 | c.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 | |
12 | g.6593108T>A | CA383591621 | CHD4 | c.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 | |
12 | g.6593108T>C | CA383591624 | CHD4 | c.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 |
12 | g.6593108T>G | CA383591629 | CHD4 | c.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 | |
12 | g.6593108T= | CA2014149177 | CHD4 | c.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= | |
12 | g.6593109C>A | CA478131949 | CHD4 | c.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 | |
12 | g.6593109C>G | CA478131947 | CHD4 | c.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 | |
12 | g.6593109C>T | CA478131948 | CHD4 | c.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 | |
12 | g.6593110A>C | CA383591632 | CHD4 | c.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 |
12 | g.6593110A>G | CA383591635 | CHD4 | c.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 | |
12 | g.6593110A>T | CA383591638 | CHD4 | c.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 | |
12 | g.6593111G>A | CA6411934 | CHD4 | c.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 |
12 | g.6593111G>C | CA383591650 | CHD4 | c.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 | |
12 | g.6593111G= | CA2014149179 | CHD4 | c.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= | |
12 | g.6593111G>T | CA383591642 | CHD4 | c.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 | |
12 | g.6593112C>A | CA478131950 | CHD4 | c.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 | |
12 | g.6593112C= | CA2014149182 | CHD4 | c.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= | |
12 | g.6593112C>G | CA478131951 | CHD4 | c.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 | |
12 | g.6593112C>T | CA478131952 | CHD4 | c.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 |
12 | g.6593113C>A | CA383591654 | CHD4 | c.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 | |
12 | g.6593113C>G | CA383591656 | CHD4 | c.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 | |
12 | g.6593113C>T | CA383591659 | CHD4 | c.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 |
12 | g.6593114G>A | CA383591663 | CHD4 | c.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 |
12 | g.6593114G>C | CA383591666 | CHD4 | c.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 | |
12 | g.6593114G>T | CA478131954 | CHD4 | c.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 | |
12 | g.6593115A>C | CA383591670 | CHD4 | c.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 | |
12 | g.6593115A>G | CA478131955 | CHD4 | c.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 | |
12 | g.6593115A>T | CA383591673 | CHD4 | c.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 | |
12 | g.6593116T>A | CA383591675 | CHD4 | c.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 | |
12 | g.6593116T>C | CA383591678 | CHD4 | c.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 |
12 | g.6593116T>G | CA383591693 | CHD4 | c.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 | |
12 | g.6593117G>A | CA383591694 | CHD4 | c.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 | |
12 | g.6593117G>C | CA383591697 | CHD4 | c.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 | |
12 | g.6593117G>T | CA383591700 | CHD4 | c.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 | |
12 | g.6593118G>A | CA478131956 | CHD4 | c.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 |
12 | g.6593118G>C | CA478131957 | CHD4 | c.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 | |
12 | g.6593118G>T | CA478131958 | CHD4 | c.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 | |
12 | g.6593119G>A | CA383591708 | CHD4 | c.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 | |
12 | g.6593119G>C | CA383591705 | CHD4 | c.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 | |
12 | g.6593119G>T | CA383591703 | CHD4 | c.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 | |
12 | g.6593120C>A | CA6411935 | CHD4 | c.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 |
12 | g.6593120C= | CA2014149185 | CHD4 | c.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= | |
12 | g.6593120C>G | CA383591715 | CHD4 | c.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 | |
12 | g.6593120C>T | CA383591718 | CHD4 | c.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 |
12 | g.6593121T>A | CA383591721 | CHD4 | c.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 | |
12 | g.6593121T>C | CA478131959 | CHD4 | c.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 | |
12 | g.6593121T>G | CA383591723 | CHD4 | c.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 | |
12 | g.6593122T>A | CA383591729 | CHD4 | c.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 | |
12 | g.6593122T>C | CA383591732 | CHD4 | c.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 | |
12 | g.6593122T>G | CA383591737 | CHD4 | c.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 | |
12 | g.6593123C>A | CA383591742 | CHD4 | c.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 | |
12 | g.6593123C>G | CA383591747 | CHD4 | c.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 | |
12 | g.6593123C>T | CA383591751 | CHD4 | c.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 | |
12 | g.6593124A>C | CA383591755 | CHD4 | c.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 | |
12 | g.6593124A>G | CA478131960 | CHD4 | c.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 | |
12 | g.6593124A>T | CA383591756 | CHD4 | c.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 | |
12 | g.6593125T>A | CA383591759 | CHD4 | c.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 | |
12 | g.6593125T>C | CA383591763 | CHD4 | c.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 |
12 | g.6593125T>G | CA383591757 | CHD4 | c.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 | |
12 | g.6593126C>A | CA383591766 | CHD4 | c.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 | |
12 | g.6593126C>G | CA383591767 | CHD4 | c.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 | |
12 | g.6593126C>T | CA383591768 | CHD4 | c.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 | |
12 | g.6593127C>A | CA478131961 | CHD4 | c.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 | |
12 | g.6593127C= | CA2014149189 | CHD4 | c.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= | |
12 | g.6593127C>G | CA478131962 | CHD4 | c.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 | |
12 | g.6593127C>T | CA478131963 | CHD4 | c.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 |
12 | g.6593128A>C | CA383591769 | CHD4 | c.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 | |
12 | g.6593128A>G | CA383591770 | CHD4 | c.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 | |
12 | g.6593128A>T | CA383591772 | CHD4 | c.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 | |
12 | g.6593129C>A | CA383591776 | CHD4 | c.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 | |
12 | g.6593129C>G | CA383591773 | CHD4 | c.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 | |
12 | g.6593129C>T | CA383591774 | CHD4 | c.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 | |
12 | g.6593130G>A | CA6411936 | CHD4 | c.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 |
12 | g.6593130G>C | CA383591783 | CHD4 | c.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 | |
12 | g.6593130G= | CA2014149192 | CHD4 | c.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= | |
12 | g.6593130G>T | CA478131964 | CHD4 | c.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 | |
12 | g.6593131A= | CA2014149196 | CHD4 | c.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= | |
12 | g.6593131A>C | CA383591785 | CHD4 | c.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 |
12 | g.6593131A>G | CA383591787 | CHD4 | c.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 |
12 | g.6593131A>T | CA383591789 | CHD4 | c.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 | |
12 | g.6593132T>A | CA383591799 | CHD4 | c.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 | |
12 | g.6593132T>C | CA383591791 | CHD4 | c.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 |
12 | g.6593132T>G | CA383591794 | CHD4 | c.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 | |
12 | g.6593132T= | CA2014149198 | CHD4 | c.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= | |
12 | g.6593133G>A | CA6411937 | CHD4 | c.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 |
12 | g.6593133G>C | CA478131967 | CHD4 | c.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 | |
12 | g.6593133G= | CA2014149201 | CHD4 | c.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= | |
12 | g.6593133G>T | CA478131968 | CHD4 | c.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 |
12 | g.6593134A= | CA2014149204 | CHD4 | c.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= | |
12 | g.6593134A>C | CA383591805 | CHD4 | c.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 | |
12 | g.6593134A>G | CA383591809 | CHD4 | c.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 | |
12 | g.6593134A>T | CA383591814 | CHD4 | c.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 |
12 | g.6593135G>A | CA383591818 | CHD4 | c.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 | |
12 | g.6593135G>C | CA383591822 | CHD4 | c.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 | |
12 | g.6593135G>T | CA383591824 | CHD4 | c.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 | |
12 | g.6593136G>A | CA6411938 | CHD4 | c.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 |
12 | g.6593136G>C | CA383591827 | CHD4 | c.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 | |
12 | g.6593136G= | CA2014149206 | CHD4 | c.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= | |
12 | g.6593136G>T | CA383591828 | CHD4 | c.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 | |
12 | g.6593137C>A | CA383591830 | CHD4 | c.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 | |
12 | g.6593137C>G | CA383591833 | CHD4 | c.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 | |
12 | g.6593137C>T | CA383591837 | CHD4 | c.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 |
12 | g.6593138A= | CA2014149209 | CHD4 | c.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= | |
12 | g.6593138A>C | CA232392911 | CHD4 | c.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 |
12 | g.6593138A>G | CA383591841 | CHD4 | c.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 | |
12 | g.6593138A>T | CA383591847 | CHD4 | c.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 | |
12 | g.6593139G>A | CA478131974 | CHD4 | c.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 | |
12 | g.6593139G>C | CA478131972 | CHD4 | c.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 | |
12 | g.6593139G>T | CA478131970 | CHD4 | c.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 |