| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6593357G>A | CA232392969 | CHD4 | c.2475+59C>T (n.2475+59C>T) c.2514+59C>T (n.2514+59C>T) c.2505+59C>T (n.2505+59C>T) c.2440+59C>T c.2454+59C>T (n.2454+59C>T) c.2493+59C>T (n.2493+59C>T) c.1231+59C>T c.2481+59C>T (n.2481+59C>T) c.372+59C>T (n.372+59C>T) n.469+59C>T n.2094+59C>T c.1442+59C>T c.515+59C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593357G= | CA2014149420 | CHD4 | c.2475+59C= (n.2475+59C=) c.2514+59C= (n.2514+59C=) c.2505+59C= (n.2505+59C=) c.2440+59C= c.2454+59C= (n.2454+59C=) c.2493+59C= (n.2493+59C=) c.1231+59C= c.2481+59C= (n.2481+59C=) c.372+59C= (n.372+59C=) n.469+59C= n.2094+59C= c.1442+59C= c.515+59C= | |
| 12 | g.6593357G>T | CA603485129 | CHD4 | c.2475+59C>A (n.2475+59C>A) c.2514+59C>A (n.2514+59C>A) c.2505+59C>A (n.2505+59C>A) c.2440+59C>A c.2454+59C>A (n.2454+59C>A) c.2493+59C>A (n.2493+59C>A) c.1231+59C>A c.2481+59C>A (n.2481+59C>A) c.372+59C>A (n.372+59C>A) n.469+59C>A n.2094+59C>A c.1442+59C>A c.515+59C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593358T>A | CA2617296632 | CHD4 | c.2475+58A>T (n.2475+58A>T) c.2514+58A>T (n.2514+58A>T) c.2505+58A>T (n.2505+58A>T) c.2440+58A>T c.2454+58A>T (n.2454+58A>T) c.2493+58A>T (n.2493+58A>T) c.1231+58A>T c.2481+58A>T (n.2481+58A>T) c.372+58A>T (n.372+58A>T) n.469+58A>T n.2094+58A>T c.1442+58A>T c.515+58A>T | gnomAD v4 |
| 12 | g.6593359A>G | CA2617296633 | CHD4 | c.2475+57T>C (n.2475+57T>C) c.2514+57T>C (n.2514+57T>C) c.2505+57T>C (n.2505+57T>C) c.2440+57T>C c.2454+57T>C (n.2454+57T>C) c.2493+57T>C (n.2493+57T>C) c.1231+57T>C c.2481+57T>C (n.2481+57T>C) c.372+57T>C (n.372+57T>C) n.469+57T>C n.2094+57T>C c.1442+57T>C c.515+57T>C | gnomAD v4 |
| 12 | g.6593360A>C | CA2617296634 | CHD4 | c.2475+56T>G (n.2475+56T>G) c.2514+56T>G (n.2514+56T>G) c.2505+56T>G (n.2505+56T>G) c.2440+56T>G c.2454+56T>G (n.2454+56T>G) c.2493+56T>G (n.2493+56T>G) c.1231+56T>G c.2481+56T>G (n.2481+56T>G) c.372+56T>G (n.372+56T>G) n.469+56T>G n.2094+56T>G c.1442+56T>G c.515+56T>G | gnomAD v4 |
| 12 | g.6593363T>A | CA2014149423 | CHD4 | c.2475+53A>T (n.2475+53A>T) c.2514+53A>T (n.2514+53A>T) c.2505+53A>T (n.2505+53A>T) c.2440+53A>T c.2454+53A>T (n.2454+53A>T) c.2493+53A>T (n.2493+53A>T) c.1231+53A>T c.2481+53A>T (n.2481+53A>T) c.372+53A>T (n.372+53A>T) n.469+53A>T n.2094+53A>T c.1442+53A>T c.515+53A>T | dbSNP gnomAD v4 |
| 12 | g.6593363T= | CA2014149422 | CHD4 | c.2475+53A= (n.2475+53A=) c.2514+53A= (n.2514+53A=) c.2505+53A= (n.2505+53A=) c.2440+53A= c.2454+53A= (n.2454+53A=) c.2493+53A= (n.2493+53A=) c.1231+53A= c.2481+53A= (n.2481+53A=) c.372+53A= (n.372+53A=) n.469+53A= n.2094+53A= c.1442+53A= c.515+53A= | |
| 12 | g.6593364A>G | CA2617296635 | CHD4 | c.2475+52T>C (n.2475+52T>C) c.2514+52T>C (n.2514+52T>C) c.2505+52T>C (n.2505+52T>C) c.2440+52T>C c.2454+52T>C (n.2454+52T>C) c.2493+52T>C (n.2493+52T>C) c.1231+52T>C c.2481+52T>C (n.2481+52T>C) c.372+52T>C (n.372+52T>C) n.469+52T>C n.2094+52T>C c.1442+52T>C c.515+52T>C | gnomAD v4 |
| 12 | g.6593367C= | CA2014149425 | CHD4 | c.2475+49G= (n.2475+49G=) c.2514+49G= (n.2514+49G=) c.2505+49G= (n.2505+49G=) c.2440+49G= c.2454+49G= (n.2454+49G=) c.2493+49G= (n.2493+49G=) c.1231+49G= c.2481+49G= (n.2481+49G=) c.372+49G= (n.372+49G=) n.469+49G= n.2094+49G= c.1442+49G= c.515+49G= | |
| 12 | g.6593367C>T | CA603485130 | CHD4 | c.2475+49G>A (n.2475+49G>A) c.2514+49G>A (n.2514+49G>A) c.2505+49G>A (n.2505+49G>A) c.2440+49G>A c.2454+49G>A (n.2454+49G>A) c.2493+49G>A (n.2493+49G>A) c.1231+49G>A c.2481+49G>A (n.2481+49G>A) c.372+49G>A (n.372+49G>A) n.469+49G>A n.2094+49G>A c.1442+49G>A c.515+49G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593368C>A | CA2794422106 | CHD4 | c.2475+48G>T (n.2475+48G>T) c.2514+48G>T (n.2514+48G>T) c.2505+48G>T (n.2505+48G>T) c.2440+48G>T c.2454+48G>T (n.2454+48G>T) c.2493+48G>T (n.2493+48G>T) c.1231+48G>T c.2481+48G>T (n.2481+48G>T) c.372+48G>T (n.372+48G>T) n.469+48G>T n.2094+48G>T c.1442+48G>T c.515+48G>T | |
| 12 | g.6593368C>G | CA2794422107 | CHD4 | c.2475+48G>C (n.2475+48G>C) c.2514+48G>C (n.2514+48G>C) c.2505+48G>C (n.2505+48G>C) c.2440+48G>C c.2454+48G>C (n.2454+48G>C) c.2493+48G>C (n.2493+48G>C) c.1231+48G>C c.2481+48G>C (n.2481+48G>C) c.372+48G>C (n.372+48G>C) n.469+48G>C n.2094+48G>C c.1442+48G>C c.515+48G>C | |
| 12 | g.6593369A>G | CA2617296636 | CHD4 | c.2475+47T>C (n.2475+47T>C) c.2514+47T>C (n.2514+47T>C) c.2505+47T>C (n.2505+47T>C) c.2440+47T>C c.2454+47T>C (n.2454+47T>C) c.2493+47T>C (n.2493+47T>C) c.1231+47T>C c.2481+47T>C (n.2481+47T>C) c.372+47T>C (n.372+47T>C) n.469+47T>C n.2094+47T>C c.1442+47T>C c.515+47T>C | gnomAD v4 |
| 12 | g.6593370G>A | CA6411951 | CHD4 | c.2475+46C>T (n.2475+46C>T) c.2514+46C>T (n.2514+46C>T) c.2505+46C>T (n.2505+46C>T) c.2440+46C>T c.2454+46C>T (n.2454+46C>T) c.2493+46C>T (n.2493+46C>T) c.1231+46C>T c.2481+46C>T (n.2481+46C>T) c.372+46C>T (n.372+46C>T) n.469+46C>T n.2094+46C>T c.1442+46C>T c.515+46C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6593370G= | CA2014149427 | CHD4 | c.2475+46C= (n.2475+46C=) c.2514+46C= (n.2514+46C=) c.2505+46C= (n.2505+46C=) c.2440+46C= c.2454+46C= (n.2454+46C=) c.2493+46C= (n.2493+46C=) c.1231+46C= c.2481+46C= (n.2481+46C=) c.372+46C= (n.372+46C=) n.469+46C= n.2094+46C= c.1442+46C= c.515+46C= | |
| 12 | g.6593371A= | CA2014149430 | CHD4 | c.2475+45T= (n.2475+45T=) c.2514+45T= (n.2514+45T=) c.2505+45T= (n.2505+45T=) c.2440+45T= c.2454+45T= (n.2454+45T=) c.2493+45T= (n.2493+45T=) c.1231+45T= c.2481+45T= (n.2481+45T=) c.372+45T= (n.372+45T=) n.469+45T= n.2094+45T= c.1442+45T= c.515+45T= | |
| 12 | g.6593371A>C | CA6411952 | CHD4 | c.2475+45T>G (n.2475+45T>G) c.2514+45T>G (n.2514+45T>G) c.2505+45T>G (n.2505+45T>G) c.2440+45T>G c.2454+45T>G (n.2454+45T>G) c.2493+45T>G (n.2493+45T>G) c.1231+45T>G c.2481+45T>G (n.2481+45T>G) c.372+45T>G (n.372+45T>G) n.469+45T>G n.2094+45T>G c.1442+45T>G c.515+45T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593373G>A | CA2617296637 | CHD4 | c.2475+43C>T (n.2475+43C>T) c.2514+43C>T (n.2514+43C>T) c.2505+43C>T (n.2505+43C>T) c.2440+43C>T c.2454+43C>T (n.2454+43C>T) c.2493+43C>T (n.2493+43C>T) c.1231+43C>T c.2481+43C>T (n.2481+43C>T) c.372+43C>T (n.372+43C>T) n.469+43C>T n.2094+43C>T c.1442+43C>T c.515+43C>T | gnomAD v4 |
| 12 | g.6593374C>A | CA6411953 | CHD4 | c.2475+42G>T (n.2475+42G>T) c.2514+42G>T (n.2514+42G>T) c.2505+42G>T (n.2505+42G>T) c.2440+42G>T c.2454+42G>T (n.2454+42G>T) c.2493+42G>T (n.2493+42G>T) c.1231+42G>T c.2481+42G>T (n.2481+42G>T) c.372+42G>T (n.372+42G>T) n.469+42G>T n.2094+42G>T c.1442+42G>T c.515+42G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6593374C= | CA2014149432 | CHD4 | c.2475+42G= (n.2475+42G=) c.2514+42G= (n.2514+42G=) c.2505+42G= (n.2505+42G=) c.2440+42G= c.2454+42G= (n.2454+42G=) c.2493+42G= (n.2493+42G=) c.1231+42G= c.2481+42G= (n.2481+42G=) c.372+42G= (n.372+42G=) n.469+42G= n.2094+42G= c.1442+42G= c.515+42G= | |
| 12 | g.6593375C>T | CA2617296638 | CHD4 | c.2475+41G>A (n.2475+41G>A) c.2514+41G>A (n.2514+41G>A) c.2505+41G>A (n.2505+41G>A) c.2440+41G>A c.2454+41G>A (n.2454+41G>A) c.2493+41G>A (n.2493+41G>A) c.1231+41G>A c.2481+41G>A (n.2481+41G>A) c.372+41G>A (n.372+41G>A) n.469+41G>A n.2094+41G>A c.1442+41G>A c.515+41G>A | gnomAD v4 |
| 12 | g.6593377C= | CA2014149435 | CHD4 | c.2475+39G= (n.2475+39G=) c.2514+39G= (n.2514+39G=) c.2505+39G= (n.2505+39G=) c.2440+39G= c.2454+39G= (n.2454+39G=) c.2493+39G= (n.2493+39G=) c.1231+39G= c.2481+39G= (n.2481+39G=) c.372+39G= (n.372+39G=) n.469+39G= n.2094+39G= c.1442+39G= c.515+39G= | |
| 12 | g.6593377C>T | CA691055260 | CHD4 | c.2475+39G>A (n.2475+39G>A) c.2514+39G>A (n.2514+39G>A) c.2505+39G>A (n.2505+39G>A) c.2440+39G>A c.2454+39G>A (n.2454+39G>A) c.2493+39G>A (n.2493+39G>A) c.1231+39G>A c.2481+39G>A (n.2481+39G>A) c.372+39G>A (n.372+39G>A) n.469+39G>A n.2094+39G>A c.1442+39G>A c.515+39G>A | dbSNP gnomAD v4 |
| 12 | g.6593379A= | CA2014149437 | CHD4 | c.2475+37T= (n.2475+37T=) c.2514+37T= (n.2514+37T=) c.2505+37T= (n.2505+37T=) c.2440+37T= c.2454+37T= (n.2454+37T=) c.2493+37T= (n.2493+37T=) c.1231+37T= c.2481+37T= (n.2481+37T=) c.372+37T= (n.372+37T=) n.469+37T= n.2094+37T= c.1442+37T= c.515+37T= | |
| 12 | g.6593379A>C | CA603485131 | CHD4 | c.2475+37T>G (n.2475+37T>G) c.2514+37T>G (n.2514+37T>G) c.2505+37T>G (n.2505+37T>G) c.2440+37T>G c.2454+37T>G (n.2454+37T>G) c.2493+37T>G (n.2493+37T>G) c.1231+37T>G c.2481+37T>G (n.2481+37T>G) c.372+37T>G (n.372+37T>G) n.469+37T>G n.2094+37T>G c.1442+37T>G c.515+37T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593379A>G | CA2617296639 | CHD4 | c.2475+37T>C (n.2475+37T>C) c.2514+37T>C (n.2514+37T>C) c.2505+37T>C (n.2505+37T>C) c.2440+37T>C c.2454+37T>C (n.2454+37T>C) c.2493+37T>C (n.2493+37T>C) c.1231+37T>C c.2481+37T>C (n.2481+37T>C) c.372+37T>C (n.372+37T>C) n.469+37T>C n.2094+37T>C c.1442+37T>C c.515+37T>C | gnomAD v4 |
| 12 | g.6593379A>T | CA2014149439 | CHD4 | c.2475+37T>A (n.2475+37T>A) c.2514+37T>A (n.2514+37T>A) c.2505+37T>A (n.2505+37T>A) c.2440+37T>A c.2454+37T>A (n.2454+37T>A) c.2493+37T>A (n.2493+37T>A) c.1231+37T>A c.2481+37T>A (n.2481+37T>A) c.372+37T>A (n.372+37T>A) n.469+37T>A n.2094+37T>A c.1442+37T>A c.515+37T>A | dbSNP |
| 12 | g.6593380C= | CA2014149441 | CHD4 | c.2475+36G= (n.2475+36G=) c.2514+36G= (n.2514+36G=) c.2505+36G= (n.2505+36G=) c.2440+36G= c.2454+36G= (n.2454+36G=) c.2493+36G= (n.2493+36G=) c.1231+36G= c.2481+36G= (n.2481+36G=) c.372+36G= (n.372+36G=) n.469+36G= n.2094+36G= c.1442+36G= c.515+36G= | |
| 12 | g.6593380C>T | CA603485132 | CHD4 | c.2475+36G>A (n.2475+36G>A) c.2514+36G>A (n.2514+36G>A) c.2505+36G>A (n.2505+36G>A) c.2440+36G>A c.2454+36G>A (n.2454+36G>A) c.2493+36G>A (n.2493+36G>A) c.1231+36G>A c.2481+36G>A (n.2481+36G>A) c.372+36G>A (n.372+36G>A) n.469+36G>A n.2094+36G>A c.1442+36G>A c.515+36G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593382_6593384delinsCTT | CA2014149445 | CHD4 | c.2475+32_2475+34delinsAAG (n.2475+32_2475+34delinsAAG) c.2514+32_2514+34delinsAAG (n.2514+32_2514+34delinsAAG) c.2505+32_2505+34delinsAAG (n.2505+32_2505+34delinsAAG) c.2440+32_2440+34delinsAAG c.2454+32_2454+34delinsAAG (n.2454+32_2454+34delinsAAG) c.2493+32_2493+34delinsAAG (n.2493+32_2493+34delinsAAG) c.1231+32_1231+34delinsAAG c.2481+32_2481+34delinsAAG (n.2481+32_2481+34delinsAAG) c.372+32_372+34delinsAAG (n.372+32_372+34delinsAAG) n.469+32_469+34delinsAAG n.2094+32_2094+34delinsAAG c.1442+32_1442+34delinsAAG c.515+32_515+34delinsAAG | |
| 12 | g.6593383T>C | CA944367764 | CHD4 | c.2475+33A>G (n.2475+33A>G) c.2514+33A>G (n.2514+33A>G) c.2505+33A>G (n.2505+33A>G) c.2440+33A>G c.2454+33A>G (n.2454+33A>G) c.2493+33A>G (n.2493+33A>G) c.1231+33A>G c.2481+33A>G (n.2481+33A>G) c.372+33A>G (n.372+33A>G) n.469+33A>G n.2094+33A>G c.1442+33A>G c.515+33A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593383T>G | CA944367771 | CHD4 | c.2475+33A>C (n.2475+33A>C) c.2514+33A>C (n.2514+33A>C) c.2505+33A>C (n.2505+33A>C) c.2440+33A>C c.2454+33A>C (n.2454+33A>C) c.2493+33A>C (n.2493+33A>C) c.1231+33A>C c.2481+33A>C (n.2481+33A>C) c.372+33A>C (n.372+33A>C) n.469+33A>C n.2094+33A>C c.1442+33A>C c.515+33A>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593383T= | CA2014149448 | CHD4 | c.2475+33A= (n.2475+33A=) c.2514+33A= (n.2514+33A=) c.2505+33A= (n.2505+33A=) c.2440+33A= c.2454+33A= (n.2454+33A=) c.2493+33A= (n.2493+33A=) c.1231+33A= c.2481+33A= (n.2481+33A=) c.372+33A= (n.372+33A=) n.469+33A= n.2094+33A= c.1442+33A= c.515+33A= | |
| 12 | g.6593385del | CA2617296640 | CHD4 | c.2475+33del (n.2475+33del) c.2514+33del (n.2514+33del) c.2505+33del (n.2505+33del) c.2440+33del c.2454+33del (n.2454+33del) c.2493+33del (n.2493+33del) c.1231+33del c.2481+33del (n.2481+33del) c.372+33del (n.372+33del) n.469+33del n.2094+33del c.1442+33del c.515+33del | gnomAD v4 |
| 12 | g.6593384_6593385del | CA944367762 | CHD4 | c.2475+32_2475+33del (n.2475+32_2475+33del) c.2514+32_2514+33del (n.2514+32_2514+33del) c.2505+32_2505+33del (n.2505+32_2505+33del) c.2440+32_2440+33del c.2454+32_2454+33del (n.2454+32_2454+33del) c.2493+32_2493+33del (n.2493+32_2493+33del) c.1231+32_1231+33del c.2481+32_2481+33del (n.2481+32_2481+33del) c.372+32_372+33del (n.372+32_372+33del) n.469+32_469+33del n.2094+32_2094+33del c.1442+32_1442+33del c.515+32_515+33del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593385T>C | CA6411954 | CHD4 | c.2475+31A>G (n.2475+31A>G) c.2514+31A>G (n.2514+31A>G) c.2505+31A>G (n.2505+31A>G) c.2440+31A>G c.2454+31A>G (n.2454+31A>G) c.2493+31A>G (n.2493+31A>G) c.1231+31A>G c.2481+31A>G (n.2481+31A>G) c.372+31A>G (n.372+31A>G) n.469+31A>G n.2094+31A>G c.1442+31A>G c.515+31A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593385T= | CA2014149450 | CHD4 | c.2475+31A= (n.2475+31A=) c.2514+31A= (n.2514+31A=) c.2505+31A= (n.2505+31A=) c.2440+31A= c.2454+31A= (n.2454+31A=) c.2493+31A= (n.2493+31A=) c.1231+31A= c.2481+31A= (n.2481+31A=) c.372+31A= (n.372+31A=) n.469+31A= n.2094+31A= c.1442+31A= c.515+31A= | |
| 12 | g.6593388_6593394del | CA2617296641 | CHD4 | c.2475+23_2475+29del (n.2475+23_2475+29del) c.2514+23_2514+29del (n.2514+23_2514+29del) c.2505+23_2505+29del (n.2505+23_2505+29del) c.2440+23_2440+29del c.2454+23_2454+29del (n.2454+23_2454+29del) c.2493+23_2493+29del (n.2493+23_2493+29del) c.1231+23_1231+29del c.2481+23_2481+29del (n.2481+23_2481+29del) c.372+23_372+29del (n.372+23_372+29del) n.469+23_469+29del n.2094+23_2094+29del c.1442+23_1442+29del c.515+23_515+29del | gnomAD v4 |
| 12 | g.6593389T>C | CA2617296642 | CHD4 | c.2475+27A>G (n.2475+27A>G) c.2514+27A>G (n.2514+27A>G) c.2505+27A>G (n.2505+27A>G) c.2440+27A>G c.2454+27A>G (n.2454+27A>G) c.2493+27A>G (n.2493+27A>G) c.1231+27A>G c.2481+27A>G (n.2481+27A>G) c.372+27A>G (n.372+27A>G) n.469+27A>G n.2094+27A>G c.1442+27A>G c.515+27A>G | gnomAD v4 |
| 12 | g.6593391G>T | CA2519292824 | CHD4 | c.2475+25C>A (n.2475+25C>A) c.2514+25C>A (n.2514+25C>A) c.2505+25C>A (n.2505+25C>A) c.2440+25C>A c.2454+25C>A (n.2454+25C>A) c.2493+25C>A (n.2493+25C>A) c.1231+25C>A c.2481+25C>A (n.2481+25C>A) c.372+25C>A (n.372+25C>A) n.469+25C>A n.2094+25C>A c.1442+25C>A c.515+25C>A | gnomAD v4 |
| 12 | g.6593392G>T | CA2617296643 | CHD4 | c.2475+24C>A (n.2475+24C>A) c.2514+24C>A (n.2514+24C>A) c.2505+24C>A (n.2505+24C>A) c.2440+24C>A c.2454+24C>A (n.2454+24C>A) c.2493+24C>A (n.2493+24C>A) c.1231+24C>A c.2481+24C>A (n.2481+24C>A) c.372+24C>A (n.372+24C>A) n.469+24C>A n.2094+24C>A c.1442+24C>A c.515+24C>A | gnomAD v4 |
| 12 | g.6593393G>A | CA6411955 | CHD4 | c.2475+23C>T (n.2475+23C>T) c.2514+23C>T (n.2514+23C>T) c.2505+23C>T (n.2505+23C>T) c.2440+23C>T c.2454+23C>T (n.2454+23C>T) c.2493+23C>T (n.2493+23C>T) c.1231+23C>T c.2481+23C>T (n.2481+23C>T) c.372+23C>T (n.372+23C>T) n.469+23C>T n.2094+23C>T c.1442+23C>T c.515+23C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593393G= | CA2014149452 | CHD4 | c.2475+23C= (n.2475+23C=) c.2514+23C= (n.2514+23C=) c.2505+23C= (n.2505+23C=) c.2440+23C= c.2454+23C= (n.2454+23C=) c.2493+23C= (n.2493+23C=) c.1231+23C= c.2481+23C= (n.2481+23C=) c.372+23C= (n.372+23C=) n.469+23C= n.2094+23C= c.1442+23C= c.515+23C= | |
| 12 | g.6593393G>T | CA691055272 | CHD4 | c.2475+23C>A (n.2475+23C>A) c.2514+23C>A (n.2514+23C>A) c.2505+23C>A (n.2505+23C>A) c.2440+23C>A c.2454+23C>A (n.2454+23C>A) c.2493+23C>A (n.2493+23C>A) c.1231+23C>A c.2481+23C>A (n.2481+23C>A) c.372+23C>A (n.372+23C>A) n.469+23C>A n.2094+23C>A c.1442+23C>A c.515+23C>A | dbSNP gnomAD v4 |
| 12 | g.6593397C= | CA2014149458 | CHD4 | c.2475+19G= (n.2475+19G=) c.2514+19G= (n.2514+19G=) c.2505+19G= (n.2505+19G=) c.2440+19G= c.2454+19G= (n.2454+19G=) c.2493+19G= (n.2493+19G=) c.1231+19G= c.2481+19G= (n.2481+19G=) c.372+19G= (n.372+19G=) n.469+19G= n.2094+19G= c.1442+19G= c.515+19G= | |
| 12 | g.6593397C>G | CA691055277 | CHD4 | c.2475+19G>C (n.2475+19G>C) c.2514+19G>C (n.2514+19G>C) c.2505+19G>C (n.2505+19G>C) c.2440+19G>C c.2454+19G>C (n.2454+19G>C) c.2493+19G>C (n.2493+19G>C) c.1231+19G>C c.2481+19G>C (n.2481+19G>C) c.372+19G>C (n.372+19G>C) n.469+19G>C n.2094+19G>C c.1442+19G>C c.515+19G>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593398T>C | CA232392973 | CHD4 | c.2475+18A>G (n.2475+18A>G) c.2514+18A>G (n.2514+18A>G) c.2505+18A>G (n.2505+18A>G) c.2440+18A>G c.2454+18A>G (n.2454+18A>G) c.2493+18A>G (n.2493+18A>G) c.1231+18A>G c.2481+18A>G (n.2481+18A>G) c.372+18A>G (n.372+18A>G) n.469+18A>G n.2094+18A>G c.1442+18A>G c.515+18A>G | dbSNP gnomAD v4 |
| 12 | g.6593398T= | CA2014149461 | CHD4 | c.2475+18A= (n.2475+18A=) c.2514+18A= (n.2514+18A=) c.2505+18A= (n.2505+18A=) c.2440+18A= c.2454+18A= (n.2454+18A=) c.2493+18A= (n.2493+18A=) c.1231+18A= c.2481+18A= (n.2481+18A=) c.372+18A= (n.372+18A=) n.469+18A= n.2094+18A= c.1442+18A= c.515+18A= | |
| 12 | g.6593401C>A | CA2617296644 | CHD4 | c.2475+15G>T (n.2475+15G>T) c.2514+15G>T (n.2514+15G>T) c.2505+15G>T (n.2505+15G>T) c.2440+15G>T c.2454+15G>T (n.2454+15G>T) c.2493+15G>T (n.2493+15G>T) c.1231+15G>T c.2481+15G>T (n.2481+15G>T) c.372+15G>T (n.372+15G>T) n.469+15G>T n.2094+15G>T c.1442+15G>T c.515+15G>T | gnomAD v4 |
| 12 | g.6593403T>C | CA603485133 | CHD4 | c.2475+13A>G (n.2475+13A>G) c.2514+13A>G (n.2514+13A>G) c.2505+13A>G (n.2505+13A>G) c.2440+13A>G c.2454+13A>G (n.2454+13A>G) c.2493+13A>G (n.2493+13A>G) c.1231+13A>G c.2481+13A>G (n.2481+13A>G) c.372+13A>G (n.372+13A>G) n.469+13A>G n.2094+13A>G c.1442+13A>G c.515+13A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593403T= | CA2014149463 | CHD4 | c.2475+13A= (n.2475+13A=) c.2514+13A= (n.2514+13A=) c.2505+13A= (n.2505+13A=) c.2440+13A= c.2454+13A= (n.2454+13A=) c.2493+13A= (n.2493+13A=) c.1231+13A= c.2481+13A= (n.2481+13A=) c.372+13A= (n.372+13A=) n.469+13A= n.2094+13A= c.1442+13A= c.515+13A= | |
| 12 | g.6593405C>T | CA2575058130 | CHD4 | c.2475+11G>A (n.2475+11G>A) c.2514+11G>A (n.2514+11G>A) c.2505+11G>A (n.2505+11G>A) c.2440+11G>A c.2454+11G>A (n.2454+11G>A) c.2493+11G>A (n.2493+11G>A) c.1231+11G>A c.2481+11G>A (n.2481+11G>A) c.372+11G>A (n.372+11G>A) n.469+11G>A n.2094+11G>A c.1442+11G>A c.515+11G>A | |
| 12 | g.6593406C>T | CA2575058131 | CHD4 | c.2475+10G>A (n.2475+10G>A) c.2514+10G>A (n.2514+10G>A) c.2505+10G>A (n.2505+10G>A) c.2440+10G>A c.2454+10G>A (n.2454+10G>A) c.2493+10G>A (n.2493+10G>A) c.1231+10G>A c.2481+10G>A (n.2481+10G>A) c.372+10G>A (n.372+10G>A) n.469+10G>A n.2094+10G>A c.1442+10G>A c.515+10G>A | gnomAD v4 |
| 12 | g.6593406_6593408delinsCCT | CA2014149465 | CHD4 | c.2475+8_2475+10delinsAGG (n.2475+8_2475+10delinsAGG) c.2514+8_2514+10delinsAGG (n.2514+8_2514+10delinsAGG) c.2505+8_2505+10delinsAGG (n.2505+8_2505+10delinsAGG) c.2440+8_2440+10delinsAGG c.2454+8_2454+10delinsAGG (n.2454+8_2454+10delinsAGG) c.2493+8_2493+10delinsAGG (n.2493+8_2493+10delinsAGG) c.1231+8_1231+10delinsAGG c.2481+8_2481+10delinsAGG (n.2481+8_2481+10delinsAGG) c.372+8_372+10delinsAGG (n.372+8_372+10delinsAGG) n.469+8_469+10delinsAGG n.2094+8_2094+10delinsAGG c.1442+8_1442+10delinsAGG c.515+8_515+10delinsAGG | |
| 12 | g.6593407_6593408del | CA6411956 | CHD4 | c.2475+8_2475+9del (n.2475+8_2475+9del) c.2514+8_2514+9del (n.2514+8_2514+9del) c.2505+8_2505+9del (n.2505+8_2505+9del) c.2440+8_2440+9del c.2454+8_2454+9del (n.2454+8_2454+9del) c.2493+8_2493+9del (n.2493+8_2493+9del) c.1231+8_1231+9del c.2481+8_2481+9del (n.2481+8_2481+9del) c.372+8_372+9del (n.372+8_372+9del) n.469+8_469+9del n.2094+8_2094+9del c.1442+8_1442+9del c.515+8_515+9del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593408T>C | CA2617296645 | CHD4 | c.2475+8A>G (n.2475+8A>G) c.2514+8A>G (n.2514+8A>G) c.2505+8A>G (n.2505+8A>G) c.2440+8A>G c.2454+8A>G (n.2454+8A>G) c.2493+8A>G (n.2493+8A>G) c.1231+8A>G c.2481+8A>G (n.2481+8A>G) c.372+8A>G (n.372+8A>G) n.469+8A>G n.2094+8A>G c.1442+8A>G c.515+8A>G | dbSNP gnomAD v4 |
| 12 | g.6593408T>G | CA915947873 | CHD4 | c.2475+8A>C (n.2475+8A>C) c.2514+8A>C (n.2514+8A>C) c.2505+8A>C (n.2505+8A>C) c.2440+8A>C c.2454+8A>C (n.2454+8A>C) c.2493+8A>C (n.2493+8A>C) c.1231+8A>C c.2481+8A>C (n.2481+8A>C) c.372+8A>C (n.372+8A>C) n.469+8A>C n.2094+8A>C c.1442+8A>C c.515+8A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593408T= | CA2014149470 | CHD4 | c.2475+8A= (n.2475+8A=) c.2514+8A= (n.2514+8A=) c.2505+8A= (n.2505+8A=) c.2440+8A= c.2454+8A= (n.2454+8A=) c.2493+8A= (n.2493+8A=) c.1231+8A= c.2481+8A= (n.2481+8A=) c.372+8A= (n.372+8A=) n.469+8A= n.2094+8A= c.1442+8A= c.515+8A= | |
| 12 | g.6593408_6593409del | CA383592571 | CHD4 | c.2475+7_2475+8del (n.2475+7_2475+8del) c.2514+7_2514+8del (n.2514+7_2514+8del) c.2505+7_2505+8del (n.2505+7_2505+8del) c.2440+7_2440+8del c.2454+7_2454+8del (n.2454+7_2454+8del) c.2493+7_2493+8del (n.2493+7_2493+8del) c.1231+7_1231+8del c.2481+7_2481+8del (n.2481+7_2481+8del) c.372+7_372+8del (n.372+7_372+8del) n.469+7_469+8del n.2094+7_2094+8del c.1442+7_1442+8del c.515+7_515+8del | |
| 12 | g.6593409G>A | CA2794422108 | CHD4 | c.2475+7C>T (n.2475+7C>T) c.2514+7C>T (n.2514+7C>T) c.2505+7C>T (n.2505+7C>T) c.2440+7C>T c.2454+7C>T (n.2454+7C>T) c.2493+7C>T (n.2493+7C>T) c.1231+7C>T c.2481+7C>T (n.2481+7C>T) c.372+7C>T (n.372+7C>T) n.469+7C>T n.2094+7C>T c.1442+7C>T c.515+7C>T | |
| 12 | g.6593412A>G | CA2617296646 | CHD4 | c.2475+4T>C (n.2475+4T>C) c.2514+4T>C (n.2514+4T>C) c.2505+4T>C (n.2505+4T>C) c.2440+4T>C c.2454+4T>C (n.2454+4T>C) c.2493+4T>C (n.2493+4T>C) c.1231+4T>C c.2481+4T>C (n.2481+4T>C) c.372+4T>C (n.372+4T>C) n.469+4T>C n.2094+4T>C c.1442+4T>C c.515+4T>C | gnomAD v4 |
| 12 | g.6593414A>C | CA383592577 | CHD4 | c.2475+2T>G (n.2475+2T>G) c.2514+2T>G (n.2514+2T>G) c.2505+2T>G (n.2505+2T>G) c.2440+2T>G c.2454+2T>G (n.2454+2T>G) c.2493+2T>G (n.2493+2T>G) c.1231+2T>G c.2481+2T>G (n.2481+2T>G) c.372+2T>G (n.372+2T>G) n.469+2T>G n.2094+2T>G c.1442+2T>G c.515+2T>G | |
| 12 | g.6593414A>G | CA383592579 | CHD4 | c.2475+2T>C (n.2475+2T>C) c.2514+2T>C (n.2514+2T>C) c.2505+2T>C (n.2505+2T>C) c.2440+2T>C c.2454+2T>C (n.2454+2T>C) c.2493+2T>C (n.2493+2T>C) c.1231+2T>C c.2481+2T>C (n.2481+2T>C) c.372+2T>C (n.372+2T>C) n.469+2T>C n.2094+2T>C c.1442+2T>C c.515+2T>C | COSMIC COSMIC COSMIC |
| 12 | g.6593414A>T | CA383592584 | CHD4 | c.2475+2T>A (n.2475+2T>A) c.2514+2T>A (n.2514+2T>A) c.2505+2T>A (n.2505+2T>A) c.2440+2T>A c.2454+2T>A (n.2454+2T>A) c.2493+2T>A (n.2493+2T>A) c.1231+2T>A c.2481+2T>A (n.2481+2T>A) c.372+2T>A (n.372+2T>A) n.469+2T>A n.2094+2T>A c.1442+2T>A c.515+2T>A | |
| 12 | g.6593415C>A | CA383592589 | CHD4 | c.2475+1G>T (n.2475+1G>T) c.2514+1G>T (n.2514+1G>T) c.2505+1G>T (n.2505+1G>T) c.2440+1G>T c.2454+1G>T (n.2454+1G>T) c.2493+1G>T (n.2493+1G>T) c.1231+1G>T c.2481+1G>T (n.2481+1G>T) c.372+1G>T (n.372+1G>T) n.469+1G>T n.2094+1G>T c.1442+1G>T c.515+1G>T | |
| 12 | g.6593415C>G | CA383592600 | CHD4 | c.2475+1G>C (n.2475+1G>C) c.2514+1G>C (n.2514+1G>C) c.2505+1G>C (n.2505+1G>C) c.2440+1G>C c.2454+1G>C (n.2454+1G>C) c.2493+1G>C (n.2493+1G>C) c.1231+1G>C c.2481+1G>C (n.2481+1G>C) c.372+1G>C (n.372+1G>C) n.469+1G>C n.2094+1G>C c.1442+1G>C c.515+1G>C | |
| 12 | g.6593415C>T | CA383592605 | CHD4 | c.2475+1G>A (n.2475+1G>A) c.2514+1G>A (n.2514+1G>A) c.2505+1G>A (n.2505+1G>A) c.2440+1G>A c.2454+1G>A (n.2454+1G>A) c.2493+1G>A (n.2493+1G>A) c.1231+1G>A c.2481+1G>A (n.2481+1G>A) c.372+1G>A (n.372+1G>A) n.469+1G>A n.2094+1G>A c.1442+1G>A c.515+1G>A | |
| 12 | g.6593416C>A | CA383592611 | CHD4 | c.2475G>T (p.Lys825Asn) c.2514G>T (p.Lys838Asn) c.2505G>T (p.Lys835Asn) c.2440G>T c.2454G>T (p.Lys818Asn) c.2493G>T (p.Lys831Asn) c.1231G>T c.2481G>T (p.Lys827Asn) c.372G>T (p.Lys124Asn) n.469G>T n.2094G>T c.1442G>T c.515G>T | |
| 12 | g.6593416C>G | CA383592608 | CHD4 | c.2475G>C (p.Lys825Asn) c.2514G>C (p.Lys838Asn) c.2505G>C (p.Lys835Asn) c.2440G>C c.2454G>C (p.Lys818Asn) c.2493G>C (p.Lys831Asn) c.1231G>C c.2481G>C (p.Lys827Asn) c.372G>C (p.Lys124Asn) n.469G>C n.2094G>C c.1442G>C c.515G>C | |
| 12 | g.6593416C>T | CA478132539 | CHD4 | c.2475G>A (p.Lys825=) c.2514G>A (p.Lys838=) c.2505G>A (p.Lys835=) c.2440G>A c.2454G>A (p.Lys818=) c.2493G>A (p.Lys831=) c.1231G>A c.2481G>A (p.Lys827=) c.372G>A (p.Lys124=) n.469G>A n.2094G>A c.1442G>A c.515G>A | |
| 12 | g.6593417T>A | CA383592613 | CHD4 | c.2474A>T (p.Lys825Met) c.2513A>T (p.Lys838Met) c.2504A>T (p.Lys835Met) c.2439A>T c.2453A>T (p.Lys818Met) c.2492A>T (p.Lys831Met) c.1230A>T c.2480A>T (p.Lys827Met) c.371A>T (p.Lys124Met) n.468A>T n.2093A>T c.1441A>T c.514A>T | |
| 12 | g.6593417T>C | CA383592617 | CHD4 | c.2474A>G (p.Lys825Arg) c.2513A>G (p.Lys838Arg) c.2504A>G (p.Lys835Arg) c.2439A>G c.2453A>G (p.Lys818Arg) c.2492A>G (p.Lys831Arg) c.1230A>G c.2480A>G (p.Lys827Arg) c.371A>G (p.Lys124Arg) n.468A>G n.2093A>G c.1441A>G c.514A>G | |
| 12 | g.6593417T>G | CA383592620 | CHD4 | c.2474A>C (p.Lys825Thr) c.2513A>C (p.Lys838Thr) c.2504A>C (p.Lys835Thr) c.2439A>C c.2453A>C (p.Lys818Thr) c.2492A>C (p.Lys831Thr) c.1230A>C c.2480A>C (p.Lys827Thr) c.371A>C (p.Lys124Thr) n.468A>C n.2093A>C c.1441A>C c.514A>C | |
| 12 | g.6593418T>A | CA383592623 | CHD4 | c.2473A>T (p.Lys825Ter) c.2512A>T (p.Lys838Ter) c.2503A>T (p.Lys835Ter) c.2438A>T c.2452A>T (p.Lys818Ter) c.2491A>T (p.Lys831Ter) c.1229A>T c.2479A>T (p.Lys827Ter) c.370A>T (p.Lys124Ter) n.467A>T n.2092A>T c.1440A>T c.513A>T | |
| 12 | g.6593418T>C | CA383592626 | CHD4 | c.2473A>G (p.Lys825Glu) c.2512A>G (p.Lys838Glu) c.2503A>G (p.Lys835Glu) c.2438A>G c.2452A>G (p.Lys818Glu) c.2491A>G (p.Lys831Glu) c.1229A>G c.2479A>G (p.Lys827Glu) c.370A>G (p.Lys124Glu) n.467A>G n.2092A>G c.1440A>G c.513A>G | |
| 12 | g.6593418T>G | CA383592630 | CHD4 | c.2473A>C (p.Lys825Gln) c.2512A>C (p.Lys838Gln) c.2503A>C (p.Lys835Gln) c.2438A>C c.2452A>C (p.Lys818Gln) c.2491A>C (p.Lys831Gln) c.1229A>C c.2479A>C (p.Lys827Gln) c.370A>C (p.Lys124Gln) n.467A>C n.2092A>C c.1440A>C c.513A>C | |
| 12 | g.6593419C>A | CA383592634 | CHD4 | c.2472G>T (p.Met824Ile) c.2511G>T (p.Met837Ile) c.2502G>T (p.Met834Ile) c.2437G>T c.2451G>T (p.Met817Ile) c.2490G>T (p.Met830Ile) c.1228G>T c.2478G>T (p.Met826Ile) c.369G>T (p.Met123Ile) n.466G>T n.2091G>T c.1439G>T c.512G>T | |
| 12 | g.6593419C>G | CA383592638 | CHD4 | c.2472G>C (p.Met824Ile) c.2511G>C (p.Met837Ile) c.2502G>C (p.Met834Ile) c.2437G>C c.2451G>C (p.Met817Ile) c.2490G>C (p.Met830Ile) c.1228G>C c.2478G>C (p.Met826Ile) c.369G>C (p.Met123Ile) n.466G>C n.2091G>C c.1439G>C c.512G>C | |
| 12 | g.6593419C>T | CA383592641 | CHD4 | c.2472G>A (p.Met824Ile) c.2511G>A (p.Met837Ile) c.2502G>A (p.Met834Ile) c.2437G>A c.2451G>A (p.Met817Ile) c.2490G>A (p.Met830Ile) c.1228G>A c.2478G>A (p.Met826Ile) c.369G>A (p.Met123Ile) n.466G>A n.2091G>A c.1439G>A c.512G>A | |
| 12 | g.6593420A>C | CA383592645 | CHD4 | c.2471T>G (p.Met824Arg) c.2510T>G (p.Met837Arg) c.2501T>G (p.Met834Arg) c.2436T>G c.2450T>G (p.Met817Arg) c.2489T>G (p.Met830Arg) c.1227T>G c.2477T>G (p.Met826Arg) c.368T>G (p.Met123Arg) n.465T>G n.2090T>G c.1438T>G c.511T>G | |
| 12 | g.6593420A>G | CA383592647 | CHD4 | c.2471T>C (p.Met824Thr) c.2510T>C (p.Met837Thr) c.2501T>C (p.Met834Thr) c.2436T>C c.2450T>C (p.Met817Thr) c.2489T>C (p.Met830Thr) c.1227T>C c.2477T>C (p.Met826Thr) c.368T>C (p.Met123Thr) n.465T>C n.2090T>C c.1438T>C c.511T>C | |
| 12 | g.6593420A>T | CA383592660 | CHD4 | c.2471T>A (p.Met824Lys) c.2510T>A (p.Met837Lys) c.2501T>A (p.Met834Lys) c.2436T>A c.2450T>A (p.Met817Lys) c.2489T>A (p.Met830Lys) c.1227T>A c.2477T>A (p.Met826Lys) c.368T>A (p.Met123Lys) n.465T>A n.2090T>A c.1438T>A c.511T>A | |
| 12 | g.6593421T>A | CA383592668 | CHD4 | c.2470A>T (p.Met824Leu) c.2509A>T (p.Met837Leu) c.2500A>T (p.Met834Leu) c.2435A>T c.2449A>T (p.Met817Leu) c.2488A>T (p.Met830Leu) c.1226A>T c.2476A>T (p.Met826Leu) c.367A>T (p.Met123Leu) n.464A>T n.2089A>T c.1437A>T c.510A>T | |
| 12 | g.6593421T>C | CA383592670 | CHD4 | c.2470A>G (p.Met824Val) c.2509A>G (p.Met837Val) c.2500A>G (p.Met834Val) c.2435A>G c.2449A>G (p.Met817Val) c.2488A>G (p.Met830Val) c.1226A>G c.2476A>G (p.Met826Val) c.367A>G (p.Met123Val) n.464A>G n.2089A>G c.1437A>G c.510A>G | gnomAD v4 |
| 12 | g.6593421T>G | CA383592666 | CHD4 | c.2470A>C (p.Met824Leu) c.2509A>C (p.Met837Leu) c.2500A>C (p.Met834Leu) c.2435A>C c.2449A>C (p.Met817Leu) c.2488A>C (p.Met830Leu) c.1226A>C c.2476A>C (p.Met826Leu) c.367A>C (p.Met123Leu) n.464A>C n.2089A>C c.1437A>C c.510A>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593421T= | CA2014149478 | CHD4 | c.2470A= (p.Met824=) c.2509A= (p.Met837=) c.2500A= (p.Met834=) c.2435A= c.2449A= (p.Met817=) c.2488A= (p.Met830=) c.1226A= c.2476A= (p.Met826=) c.367A= (p.Met123=) n.464A= n.2089A= c.1437A= c.510A= | |
| 12 | g.6593422G>A | CA478132560 | CHD4 | c.2469C>T (p.Arg823=) c.2508C>T (p.Arg836=) c.2499C>T (p.Arg833=) c.2434C>T c.2448C>T (p.Arg816=) c.2487C>T (p.Arg829=) c.1225C>T c.2475C>T (p.Arg825=) c.366C>T (p.Arg122=) n.463C>T n.2088C>T c.1436C>T c.509C>T | dbSNP gnomAD v4 |
| 12 | g.6593422G>C | CA478132561 | CHD4 | c.2469C>G (p.Arg823=) c.2508C>G (p.Arg836=) c.2499C>G (p.Arg833=) c.2434C>G c.2448C>G (p.Arg816=) c.2487C>G (p.Arg829=) c.1225C>G c.2475C>G (p.Arg825=) c.366C>G (p.Arg122=) n.463C>G n.2088C>G c.1436C>G c.509C>G | |
| 12 | g.6593422G= | CA2014149482 | CHD4 | c.2469C= (p.Arg823=) c.2508C= (p.Arg836=) c.2499C= (p.Arg833=) c.2434C= c.2448C= (p.Arg816=) c.2487C= (p.Arg829=) c.1225C= c.2475C= (p.Arg825=) c.366C= (p.Arg122=) n.463C= n.2088C= c.1436C= c.509C= | |
| 12 | g.6593422G>T | CA478132563 | CHD4 | c.2469C>A (p.Arg823=) c.2508C>A (p.Arg836=) c.2499C>A (p.Arg833=) c.2434C>A c.2448C>A (p.Arg816=) c.2487C>A (p.Arg829=) c.1225C>A c.2475C>A (p.Arg825=) c.366C>A (p.Arg122=) n.463C>A n.2088C>A c.1436C>A c.509C>A | |
| 12 | g.6593423C>A | CA383592675 | CHD4 | c.2468G>T (p.Arg823Leu) c.2507G>T (p.Arg836Leu) c.2498G>T (p.Arg833Leu) c.2433G>T c.2447G>T (p.Arg816Leu) c.2486G>T (p.Arg829Leu) c.1224G>T c.2474G>T (p.Arg825Leu) c.365G>T (p.Arg122Leu) n.462G>T n.2087G>T c.1435G>T c.508G>T | dbSNP |
| 12 | g.6593423C= | CA2014149486 | CHD4 | c.2468G= (p.Arg823=) c.2507G= (p.Arg836=) c.2498G= (p.Arg833=) c.2433G= c.2447G= (p.Arg816=) c.2486G= (p.Arg829=) c.1224G= c.2474G= (p.Arg825=) c.365G= (p.Arg122=) n.462G= n.2087G= c.1435G= c.508G= | |
| 12 | g.6593423C>G | CA383592679 | CHD4 | c.2468G>C (p.Arg823Pro) c.2507G>C (p.Arg836Pro) c.2498G>C (p.Arg833Pro) c.2433G>C c.2447G>C (p.Arg816Pro) c.2486G>C (p.Arg829Pro) c.1224G>C c.2474G>C (p.Arg825Pro) c.365G>C (p.Arg122Pro) n.462G>C n.2087G>C c.1435G>C c.508G>C | |
| 12 | g.6593423C>T | CA383592684 | CHD4 | c.2468G>A (p.Arg823His) c.2507G>A (p.Arg836His) c.2498G>A (p.Arg833His) c.2433G>A c.2447G>A (p.Arg816His) c.2486G>A (p.Arg829His) c.1224G>A c.2474G>A (p.Arg825His) c.365G>A (p.Arg122His) n.462G>A n.2087G>A c.1435G>A c.508G>A | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 12 | g.6593424G>A | CA232392976 | CHD4 | c.2467C>T (p.Arg823Cys) c.2506C>T (p.Arg836Cys) c.2497C>T (p.Arg833Cys) c.2432C>T c.2446C>T (p.Arg816Cys) c.2485C>T (p.Arg829Cys) c.1223C>T c.2473C>T (p.Arg825Cys) c.364C>T (p.Arg122Cys) n.461C>T n.2086C>T c.1434C>T c.507C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.6593424G>C | CA383592693 | CHD4 | c.2467C>G (p.Arg823Gly) c.2506C>G (p.Arg836Gly) c.2497C>G (p.Arg833Gly) c.2432C>G c.2446C>G (p.Arg816Gly) c.2485C>G (p.Arg829Gly) c.1223C>G c.2473C>G (p.Arg825Gly) c.364C>G (p.Arg122Gly) n.461C>G n.2086C>G c.1434C>G c.507C>G | |
| 12 | g.6593424G= | CA2014149488 | CHD4 | c.2467C= (p.Arg823=) c.2506C= (p.Arg836=) c.2497C= (p.Arg833=) c.2432C= c.2446C= (p.Arg816=) c.2485C= (p.Arg829=) c.1223C= c.2473C= (p.Arg825=) c.364C= (p.Arg122=) n.461C= n.2086C= c.1434C= c.507C= | |
| 12 | g.6593424G>T | CA383592697 | CHD4 | c.2467C>A (p.Arg823Ser) c.2506C>A (p.Arg836Ser) c.2497C>A (p.Arg833Ser) c.2432C>A c.2446C>A (p.Arg816Ser) c.2485C>A (p.Arg829Ser) c.1223C>A c.2473C>A (p.Arg825Ser) c.364C>A (p.Arg122Ser) n.461C>A n.2086C>A c.1434C>A c.507C>A | |
| 12 | g.6593425G>A | CA478132571 | CHD4 | c.2466C>T (p.Ser822=) c.2505C>T (p.Ser835=) c.2496C>T (p.Ser832=) c.2431C>T c.2445C>T (p.Ser815=) c.2484C>T (p.Ser828=) c.1222C>T c.2472C>T (p.Ser824=) c.363C>T (p.Ser121=) n.460C>T n.2085C>T c.1433C>T c.506C>T | dbSNP |
| 12 | g.6593425G>C | CA478132574 | CHD4 | c.2466C>G (p.Ser822=) c.2505C>G (p.Ser835=) c.2496C>G (p.Ser832=) c.2431C>G c.2445C>G (p.Ser815=) c.2484C>G (p.Ser828=) c.1222C>G c.2472C>G (p.Ser824=) c.363C>G (p.Ser121=) n.460C>G n.2085C>G c.1433C>G c.506C>G | |
| 12 | g.6593425G= | CA2014149491 | CHD4 | c.2466C= (p.Ser822=) c.2505C= (p.Ser835=) c.2496C= (p.Ser832=) c.2431C= c.2445C= (p.Ser815=) c.2484C= (p.Ser828=) c.1222C= c.2472C= (p.Ser824=) c.363C= (p.Ser121=) n.460C= n.2085C= c.1433C= c.506C= | |
| 12 | g.6593425G>T | CA478132576 | CHD4 | c.2466C>A (p.Ser822=) c.2505C>A (p.Ser835=) c.2496C>A (p.Ser832=) c.2431C>A c.2445C>A (p.Ser815=) c.2484C>A (p.Ser828=) c.1222C>A c.2472C>A (p.Ser824=) c.363C>A (p.Ser121=) n.460C>A n.2085C>A c.1433C>A c.506C>A | COSMIC COSMIC COSMIC |
| 12 | g.6593426G>A | CA383592702 | CHD4 | c.2465C>T (p.Ser822Phe) c.2504C>T (p.Ser835Phe) c.2495C>T (p.Ser832Phe) c.2430C>T c.2444C>T (p.Ser815Phe) c.2483C>T (p.Ser828Phe) c.1221C>T c.2471C>T (p.Ser824Phe) c.362C>T (p.Ser121Phe) n.459C>T n.2084C>T c.1432C>T c.505C>T | gnomAD v4 |
| 12 | g.6593426G>C | CA383592712 | CHD4 | c.2465C>G (p.Ser822Cys) c.2504C>G (p.Ser835Cys) c.2495C>G (p.Ser832Cys) c.2430C>G c.2444C>G (p.Ser815Cys) c.2483C>G (p.Ser828Cys) c.1221C>G c.2471C>G (p.Ser824Cys) c.362C>G (p.Ser121Cys) n.459C>G n.2084C>G c.1432C>G c.505C>G | |
| 12 | g.6593426G>T | CA383592709 | CHD4 | c.2465C>A (p.Ser822Tyr) c.2504C>A (p.Ser835Tyr) c.2495C>A (p.Ser832Tyr) c.2430C>A c.2444C>A (p.Ser815Tyr) c.2483C>A (p.Ser828Tyr) c.1221C>A c.2471C>A (p.Ser824Tyr) c.362C>A (p.Ser121Tyr) n.459C>A n.2084C>A c.1432C>A c.505C>A | |
| 12 | g.6593427A>C | CA383592714 | CHD4 | c.2464T>G (p.Ser822Ala) c.2503T>G (p.Ser835Ala) c.2494T>G (p.Ser832Ala) c.2429T>G c.2443T>G (p.Ser815Ala) c.2482T>G (p.Ser828Ala) c.1220T>G c.2470T>G (p.Ser824Ala) c.361T>G (p.Ser121Ala) n.458T>G n.2083T>G c.1431T>G c.504T>G | gnomAD v4 |
| 12 | g.6593427A>G | CA383592715 | CHD4 | c.2464T>C (p.Ser822Pro) c.2503T>C (p.Ser835Pro) c.2494T>C (p.Ser832Pro) c.2429T>C c.2443T>C (p.Ser815Pro) c.2482T>C (p.Ser828Pro) c.1220T>C c.2470T>C (p.Ser824Pro) c.361T>C (p.Ser121Pro) n.458T>C n.2083T>C c.1431T>C c.504T>C | |
| 12 | g.6593427A>T | CA383592718 | CHD4 | c.2464T>A (p.Ser822Thr) c.2503T>A (p.Ser835Thr) c.2494T>A (p.Ser832Thr) c.2429T>A c.2443T>A (p.Ser815Thr) c.2482T>A (p.Ser828Thr) c.1220T>A c.2470T>A (p.Ser824Thr) c.361T>A (p.Ser121Thr) n.458T>A n.2083T>A c.1431T>A c.504T>A | |
| 12 | g.6593428G>A | CA478132585 | CHD4 | c.2463C>T (p.Ala821=) c.2502C>T (p.Ala834=) c.2493C>T (p.Ala831=) c.2428C>T c.2442C>T (p.Ala814=) c.2481C>T (p.Ala827=) c.1219C>T c.2469C>T (p.Ala823=) c.360C>T (p.Ala120=) n.457C>T n.2082C>T c.1430C>T c.503C>T | dbSNP |
| 12 | g.6593428G>C | CA478132588 | CHD4 | c.2463C>G (p.Ala821=) c.2502C>G (p.Ala834=) c.2493C>G (p.Ala831=) c.2428C>G c.2442C>G (p.Ala814=) c.2481C>G (p.Ala827=) c.1219C>G c.2469C>G (p.Ala823=) c.360C>G (p.Ala120=) n.457C>G n.2082C>G c.1430C>G c.503C>G | |
| 12 | g.6593428G= | CA2014149494 | CHD4 | c.2463C= (p.Ala821=) c.2502C= (p.Ala834=) c.2493C= (p.Ala831=) c.2428C= c.2442C= (p.Ala814=) c.2481C= (p.Ala827=) c.1219C= c.2469C= (p.Ala823=) c.360C= (p.Ala120=) n.457C= n.2082C= c.1430C= c.503C= | |
| 12 | g.6593428G>T | CA6411957 | CHD4 | c.2463C>A (p.Ala821=) c.2502C>A (p.Ala834=) c.2493C>A (p.Ala831=) c.2428C>A c.2442C>A (p.Ala814=) c.2481C>A (p.Ala827=) c.1219C>A c.2469C>A (p.Ala823=) c.360C>A (p.Ala120=) n.457C>A n.2082C>A c.1430C>A c.503C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6593429G>A | CA383592722 | CHD4 | c.2462C>T (p.Ala821Val) c.2501C>T (p.Ala834Val) c.2492C>T (p.Ala831Val) c.2427C>T c.2441C>T (p.Ala814Val) c.2480C>T (p.Ala827Val) c.1218C>T c.2468C>T (p.Ala823Val) c.359C>T (p.Ala120Val) n.456C>T n.2081C>T c.1429C>T c.502C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593429G>C | CA383592728 | CHD4 | c.2462C>G (p.Ala821Gly) c.2501C>G (p.Ala834Gly) c.2492C>G (p.Ala831Gly) c.2427C>G c.2441C>G (p.Ala814Gly) c.2480C>G (p.Ala827Gly) c.1218C>G c.2468C>G (p.Ala823Gly) c.359C>G (p.Ala120Gly) n.456C>G n.2081C>G c.1429C>G c.502C>G | |
| 12 | g.6593429G= | CA2014149496 | CHD4 | c.2462C= (p.Ala821=) c.2501C= (p.Ala834=) c.2492C= (p.Ala831=) c.2427C= c.2441C= (p.Ala814=) c.2480C= (p.Ala827=) c.1218C= c.2468C= (p.Ala823=) c.359C= (p.Ala120=) n.456C= n.2081C= c.1429C= c.502C= | |
| 12 | g.6593429G>T | CA383592724 | CHD4 | c.2462C>A (p.Ala821Asp) c.2501C>A (p.Ala834Asp) c.2492C>A (p.Ala831Asp) c.2427C>A c.2441C>A (p.Ala814Asp) c.2480C>A (p.Ala827Asp) c.1218C>A c.2468C>A (p.Ala823Asp) c.359C>A (p.Ala120Asp) n.456C>A n.2081C>A c.1429C>A c.502C>A | |
| 12 | g.6593430C>A | CA383592732 | CHD4 | c.2461G>T (p.Ala821Ser) c.2500G>T (p.Ala834Ser) c.2491G>T (p.Ala831Ser) c.2426G>T c.2440G>T (p.Ala814Ser) c.2479G>T (p.Ala827Ser) c.1217G>T c.2467G>T (p.Ala823Ser) c.358G>T (p.Ala120Ser) n.455G>T n.2080G>T c.1428G>T c.501G>T | |
| 12 | g.6593430C>G | CA383592736 | CHD4 | c.2461G>C (p.Ala821Pro) c.2500G>C (p.Ala834Pro) c.2491G>C (p.Ala831Pro) c.2426G>C c.2440G>C (p.Ala814Pro) c.2479G>C (p.Ala827Pro) c.1217G>C c.2467G>C (p.Ala823Pro) c.358G>C (p.Ala120Pro) n.455G>C n.2080G>C c.1428G>C c.501G>C | |
| 12 | g.6593430C>T | CA383592740 | CHD4 | c.2461G>A (p.Ala821Thr) c.2500G>A (p.Ala834Thr) c.2491G>A (p.Ala831Thr) c.2426G>A c.2440G>A (p.Ala814Thr) c.2479G>A (p.Ala827Thr) c.1217G>A c.2467G>A (p.Ala823Thr) c.358G>A (p.Ala120Thr) n.455G>A n.2080G>A c.1428G>A c.501G>A | |
| 12 | g.6593431C>A | CA383592747 | CHD4 | c.2460G>T (p.Lys820Asn) c.2499G>T (p.Lys833Asn) c.2490G>T (p.Lys830Asn) c.2425G>T c.2439G>T (p.Lys813Asn) c.2478G>T (p.Lys826Asn) c.1216G>T c.2466G>T (p.Lys822Asn) c.357G>T (p.Lys119Asn) n.454G>T n.2079G>T c.1427G>T c.500G>T | |
| 12 | g.6593431C= | CA2014149500 | CHD4 | c.2460G= (p.Lys820=) c.2499G= (p.Lys833=) c.2490G= (p.Lys830=) c.2425G= c.2439G= (p.Lys813=) c.2478G= (p.Lys826=) c.1216G= c.2466G= (p.Lys822=) c.357G= (p.Lys119=) n.454G= n.2079G= c.1427G= c.500G= | |
| 12 | g.6593431C>G | CA383592750 | CHD4 | c.2460G>C (p.Lys820Asn) c.2499G>C (p.Lys833Asn) c.2490G>C (p.Lys830Asn) c.2425G>C c.2439G>C (p.Lys813Asn) c.2478G>C (p.Lys826Asn) c.1216G>C c.2466G>C (p.Lys822Asn) c.357G>C (p.Lys119Asn) n.454G>C n.2079G>C c.1427G>C c.500G>C | |
| 12 | g.6593431C>T | CA6411958 | CHD4 | c.2460G>A (p.Lys820=) c.2499G>A (p.Lys833=) c.2490G>A (p.Lys830=) c.2425G>A c.2439G>A (p.Lys813=) c.2478G>A (p.Lys826=) c.1216G>A c.2466G>A (p.Lys822=) c.357G>A (p.Lys119=) n.454G>A n.2079G>A c.1427G>A c.500G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6593432T>A | CA383592755 | CHD4 | c.2459A>T (p.Lys820Met) c.2498A>T (p.Lys833Met) c.2489A>T (p.Lys830Met) c.2424A>T c.2438A>T (p.Lys813Met) c.2477A>T (p.Lys826Met) c.1215A>T c.2465A>T (p.Lys822Met) c.356A>T (p.Lys119Met) n.453A>T n.2078A>T c.1426A>T c.499A>T | |
| 12 | g.6593432T>C | CA383592759 | CHD4 | c.2459A>G (p.Lys820Arg) c.2498A>G (p.Lys833Arg) c.2489A>G (p.Lys830Arg) c.2424A>G c.2438A>G (p.Lys813Arg) c.2477A>G (p.Lys826Arg) c.1215A>G c.2465A>G (p.Lys822Arg) c.356A>G (p.Lys119Arg) n.453A>G n.2078A>G c.1426A>G c.499A>G | |
| 12 | g.6593432T>G | CA383592763 | CHD4 | c.2459A>C (p.Lys820Thr) c.2498A>C (p.Lys833Thr) c.2489A>C (p.Lys830Thr) c.2424A>C c.2438A>C (p.Lys813Thr) c.2477A>C (p.Lys826Thr) c.1215A>C c.2465A>C (p.Lys822Thr) c.356A>C (p.Lys119Thr) n.453A>C n.2078A>C c.1426A>C c.499A>C | |
| 12 | g.6593433T>A | CA383592770 | CHD4 | c.2458A>T (p.Lys820Ter) c.2497A>T (p.Lys833Ter) c.2488A>T (p.Lys830Ter) c.2423A>T c.2437A>T (p.Lys813Ter) c.2476A>T (p.Lys826Ter) c.1214A>T c.2464A>T (p.Lys822Ter) c.355A>T (p.Lys119Ter) n.452A>T n.2077A>T c.1425A>T c.498A>T | |
| 12 | g.6593433T>C | CA383592773 | CHD4 | c.2458A>G (p.Lys820Glu) c.2497A>G (p.Lys833Glu) c.2488A>G (p.Lys830Glu) c.2423A>G c.2437A>G (p.Lys813Glu) c.2476A>G (p.Lys826Glu) c.1214A>G c.2464A>G (p.Lys822Glu) c.355A>G (p.Lys119Glu) n.452A>G n.2077A>G c.1425A>G c.498A>G | |
| 12 | g.6593433T>G | CA383592776 | CHD4 | c.2458A>C (p.Lys820Gln) c.2497A>C (p.Lys833Gln) c.2488A>C (p.Lys830Gln) c.2423A>C c.2437A>C (p.Lys813Gln) c.2476A>C (p.Lys826Gln) c.1214A>C c.2464A>C (p.Lys822Gln) c.355A>C (p.Lys119Gln) n.452A>C n.2077A>C c.1425A>C c.498A>C | |
| 12 | g.6593434C>A | CA383592784 | CHD4 | c.2457G>T (p.Lys819Asn) c.2496G>T (p.Lys832Asn) c.2487G>T (p.Lys829Asn) c.2422G>T c.2436G>T (p.Lys812Asn) c.2475G>T (p.Lys825Asn) c.1213G>T c.2463G>T (p.Lys821Asn) c.354G>T (p.Lys118Asn) n.451G>T n.2076G>T c.1424G>T c.497G>T | |
| 12 | g.6593434C= | CA2014149504 | CHD4 | c.2457G= (p.Lys819=) c.2496G= (p.Lys832=) c.2487G= (p.Lys829=) c.2422G= c.2436G= (p.Lys812=) c.2475G= (p.Lys825=) c.1213G= c.2463G= (p.Lys821=) c.354G= (p.Lys118=) n.451G= n.2076G= c.1424G= c.497G= | |
| 12 | g.6593434C>G | CA383592779 | CHD4 | c.2457G>C (p.Lys819Asn) c.2496G>C (p.Lys832Asn) c.2487G>C (p.Lys829Asn) c.2422G>C c.2436G>C (p.Lys812Asn) c.2475G>C (p.Lys825Asn) c.1213G>C c.2463G>C (p.Lys821Asn) c.354G>C (p.Lys118Asn) n.451G>C n.2076G>C c.1424G>C c.497G>C | |
| 12 | g.6593434C>T | CA478132617 | CHD4 | c.2457G>A (p.Lys819=) c.2496G>A (p.Lys832=) c.2487G>A (p.Lys829=) c.2422G>A c.2436G>A (p.Lys812=) c.2475G>A (p.Lys825=) c.1213G>A c.2463G>A (p.Lys821=) c.354G>A (p.Lys118=) n.451G>A n.2076G>A c.1424G>A c.497G>A | dbSNP |
| 12 | g.6593435T>A | CA383592788 | CHD4 | c.2456A>T (p.Lys819Met) c.2495A>T (p.Lys832Met) c.2486A>T (p.Lys829Met) c.2421A>T c.2435A>T (p.Lys812Met) c.2474A>T (p.Lys825Met) c.1212A>T c.2462A>T (p.Lys821Met) c.353A>T (p.Lys118Met) n.450A>T n.2075A>T c.1423A>T c.496A>T | |
| 12 | g.6593435T>C | CA232392981 | CHD4 | c.2456A>G (p.Lys819Arg) c.2495A>G (p.Lys832Arg) c.2486A>G (p.Lys829Arg) c.2421A>G c.2435A>G (p.Lys812Arg) c.2474A>G (p.Lys825Arg) c.1212A>G c.2462A>G (p.Lys821Arg) c.353A>G (p.Lys118Arg) n.450A>G n.2075A>G c.1423A>G c.496A>G | dbSNP |
| 12 | g.6593435T>G | CA383592791 | CHD4 | c.2456A>C (p.Lys819Thr) c.2495A>C (p.Lys832Thr) c.2486A>C (p.Lys829Thr) c.2421A>C c.2435A>C (p.Lys812Thr) c.2474A>C (p.Lys825Thr) c.1212A>C c.2462A>C (p.Lys821Thr) c.353A>C (p.Lys118Thr) n.450A>C n.2075A>C c.1423A>C c.496A>C | |
| 12 | g.6593435T= | CA2014149508 | CHD4 | c.2456A= (p.Lys819=) c.2495A= (p.Lys832=) c.2486A= (p.Lys829=) c.2421A= c.2435A= (p.Lys812=) c.2474A= (p.Lys825=) c.1212A= c.2462A= (p.Lys821=) c.353A= (p.Lys118=) n.450A= n.2075A= c.1423A= c.496A= | |
| 12 | g.6593436T>A | CA383592795 | CHD4 | c.2455A>T (p.Lys819Ter) c.2494A>T (p.Lys832Ter) c.2485A>T (p.Lys829Ter) c.2420A>T c.2434A>T (p.Lys812Ter) c.2473A>T (p.Lys825Ter) c.1211A>T c.2461A>T (p.Lys821Ter) c.352A>T (p.Lys118Ter) n.449A>T n.2074A>T c.1422A>T c.495A>T | |
| 12 | g.6593436T>C | CA383592796 | CHD4 | c.2455A>G (p.Lys819Glu) c.2494A>G (p.Lys832Glu) c.2485A>G (p.Lys829Glu) c.2420A>G c.2434A>G (p.Lys812Glu) c.2473A>G (p.Lys825Glu) c.1211A>G c.2461A>G (p.Lys821Glu) c.352A>G (p.Lys118Glu) n.449A>G n.2074A>G c.1422A>G c.495A>G | |
| 12 | g.6593436T>G | CA383592802 | CHD4 | c.2455A>C (p.Lys819Gln) c.2494A>C (p.Lys832Gln) c.2485A>C (p.Lys829Gln) c.2420A>C c.2434A>C (p.Lys812Gln) c.2473A>C (p.Lys825Gln) c.1211A>C c.2461A>C (p.Lys821Gln) c.352A>C (p.Lys118Gln) n.449A>C n.2074A>C c.1422A>C c.495A>C | |
| 12 | g.6593437G>A | CA478132623 | CHD4 | c.2454C>T (p.Gly818=) c.2493C>T (p.Gly831=) c.2484C>T (p.Gly828=) c.2419C>T c.2433C>T (p.Gly811=) c.2472C>T (p.Gly824=) c.1210C>T c.2460C>T (p.Gly820=) c.351C>T (p.Gly117=) n.448C>T n.2073C>T c.1421C>T c.494C>T | |
| 12 | g.6593437G>C | CA478132624 | CHD4 | c.2454C>G (p.Gly818=) c.2493C>G (p.Gly831=) c.2484C>G (p.Gly828=) c.2419C>G c.2433C>G (p.Gly811=) c.2472C>G (p.Gly824=) c.1210C>G c.2460C>G (p.Gly820=) c.351C>G (p.Gly117=) n.448C>G n.2073C>G c.1421C>G c.494C>G | |
| 12 | g.6593437G>T | CA478132626 | CHD4 | c.2454C>A (p.Gly818=) c.2493C>A (p.Gly831=) c.2484C>A (p.Gly828=) c.2419C>A c.2433C>A (p.Gly811=) c.2472C>A (p.Gly824=) c.1210C>A c.2460C>A (p.Gly820=) c.351C>A (p.Gly117=) n.448C>A n.2073C>A c.1421C>A c.494C>A | gnomAD v4 |
| 12 | g.6593438C>A | CA383592805 | CHD4 | c.2453G>T (p.Gly818Val) c.2492G>T (p.Gly831Val) c.2483G>T (p.Gly828Val) c.2418G>T c.2432G>T (p.Gly811Val) c.2471G>T (p.Gly824Val) c.1209G>T c.2459G>T (p.Gly820Val) c.350G>T (p.Gly117Val) n.447G>T n.2072G>T c.1420G>T c.493G>T | |
| 12 | g.6593438C>G | CA383592809 | CHD4 | c.2453G>C (p.Gly818Ala) c.2492G>C (p.Gly831Ala) c.2483G>C (p.Gly828Ala) c.2418G>C c.2432G>C (p.Gly811Ala) c.2471G>C (p.Gly824Ala) c.1209G>C c.2459G>C (p.Gly820Ala) c.350G>C (p.Gly117Ala) n.447G>C n.2072G>C c.1420G>C c.493G>C | |
| 12 | g.6593438C>T | CA383592811 | CHD4 | c.2453G>A (p.Gly818Asp) c.2492G>A (p.Gly831Asp) c.2483G>A (p.Gly828Asp) c.2418G>A c.2432G>A (p.Gly811Asp) c.2471G>A (p.Gly824Asp) c.1209G>A c.2459G>A (p.Gly820Asp) c.350G>A (p.Gly117Asp) n.447G>A n.2072G>A c.1420G>A c.493G>A | dbSNP |
| 12 | g.6593439C>A | CA383592816 | CHD4 | c.2452G>T (p.Gly818Cys) c.2491G>T (p.Gly831Cys) c.2482G>T (p.Gly828Cys) c.2417G>T c.2431G>T (p.Gly811Cys) c.2470G>T (p.Gly824Cys) c.1208G>T c.2458G>T (p.Gly820Cys) c.349G>T (p.Gly117Cys) n.446G>T n.2071G>T c.1419G>T c.492G>T | |
| 12 | g.6593439C>G | CA383592820 | CHD4 | c.2452G>C (p.Gly818Arg) c.2491G>C (p.Gly831Arg) c.2482G>C (p.Gly828Arg) c.2417G>C c.2431G>C (p.Gly811Arg) c.2470G>C (p.Gly824Arg) c.1208G>C c.2458G>C (p.Gly820Arg) c.349G>C (p.Gly117Arg) n.446G>C n.2071G>C c.1419G>C c.492G>C | |
| 12 | g.6593439C>T | CA383592828 | CHD4 | c.2452G>A (p.Gly818Ser) c.2491G>A (p.Gly831Ser) c.2482G>A (p.Gly828Ser) c.2417G>A c.2431G>A (p.Gly811Ser) c.2470G>A (p.Gly824Ser) c.1208G>A c.2458G>A (p.Gly820Ser) c.349G>A (p.Gly117Ser) n.446G>A n.2071G>A c.1419G>A c.492G>A | |
| 12 | g.6593440A= | CA2014149510 | CHD4 | c.2451T= (p.Gly817=) c.2490T= (p.Gly830=) c.2481T= (p.Gly827=) c.2416T= c.2430T= (p.Gly810=) c.2469T= (p.Gly823=) c.1207T= c.2457T= (p.Gly819=) c.348T= (p.Gly116=) n.445T= n.2070T= c.1418T= c.491T= | |
| 12 | g.6593440A>C | CA478132635 | CHD4 | c.2451T>G (p.Gly817=) c.2490T>G (p.Gly830=) c.2481T>G (p.Gly827=) c.2416T>G c.2430T>G (p.Gly810=) c.2469T>G (p.Gly823=) c.1207T>G c.2457T>G (p.Gly819=) c.348T>G (p.Gly116=) n.445T>G n.2070T>G c.1418T>G c.491T>G | dbSNP |
| 12 | g.6593440A>G | CA478132637 | CHD4 | c.2451T>C (p.Gly817=) c.2490T>C (p.Gly830=) c.2481T>C (p.Gly827=) c.2416T>C c.2430T>C (p.Gly810=) c.2469T>C (p.Gly823=) c.1207T>C c.2457T>C (p.Gly819=) c.348T>C (p.Gly116=) n.445T>C n.2070T>C c.1418T>C c.491T>C | |
| 12 | g.6593440A>T | CA478132638 | CHD4 | c.2451T>A (p.Gly817=) c.2490T>A (p.Gly830=) c.2481T>A (p.Gly827=) c.2416T>A c.2430T>A (p.Gly810=) c.2469T>A (p.Gly823=) c.1207T>A c.2457T>A (p.Gly819=) c.348T>A (p.Gly116=) n.445T>A n.2070T>A c.1418T>A c.491T>A | |
| 12 | g.6593441C>A | CA383592833 | CHD4 | c.2450G>T (p.Gly817Val) c.2489G>T (p.Gly830Val) c.2480G>T (p.Gly827Val) c.2415G>T c.2429G>T (p.Gly810Val) c.2468G>T (p.Gly823Val) c.1206G>T c.2456G>T (p.Gly819Val) c.347G>T (p.Gly116Val) n.444G>T n.2069G>T c.1417G>T c.490G>T | |
| 12 | g.6593441C>G | CA383592835 | CHD4 | c.2450G>C (p.Gly817Ala) c.2489G>C (p.Gly830Ala) c.2480G>C (p.Gly827Ala) c.2415G>C c.2429G>C (p.Gly810Ala) c.2468G>C (p.Gly823Ala) c.1206G>C c.2456G>C (p.Gly819Ala) c.347G>C (p.Gly116Ala) n.444G>C n.2069G>C c.1417G>C c.490G>C | |
| 12 | g.6593441C>T | CA383592844 | CHD4 | c.2450G>A (p.Gly817Asp) c.2489G>A (p.Gly830Asp) c.2480G>A (p.Gly827Asp) c.2415G>A c.2429G>A (p.Gly810Asp) c.2468G>A (p.Gly823Asp) c.1206G>A c.2456G>A (p.Gly819Asp) c.347G>A (p.Gly116Asp) n.444G>A n.2069G>A c.1417G>A c.490G>A | gnomAD v4 |
| 12 | g.6593442C>A | CA383592848 | CHD4 | c.2449G>T (p.Gly817Cys) c.2488G>T (p.Gly830Cys) c.2479G>T (p.Gly827Cys) c.2414G>T c.2428G>T (p.Gly810Cys) c.2467G>T (p.Gly823Cys) c.1205G>T c.2455G>T (p.Gly819Cys) c.346G>T (p.Gly116Cys) n.443G>T n.2068G>T c.1416G>T c.489G>T | |
| 12 | g.6593442C>G | CA383592855 | CHD4 | c.2449G>C (p.Gly817Arg) c.2488G>C (p.Gly830Arg) c.2479G>C (p.Gly827Arg) c.2414G>C c.2428G>C (p.Gly810Arg) c.2467G>C (p.Gly823Arg) c.1205G>C c.2455G>C (p.Gly819Arg) c.346G>C (p.Gly116Arg) n.443G>C n.2068G>C c.1416G>C c.489G>C | |
| 12 | g.6593442C>T | CA383592853 | CHD4 | c.2449G>A (p.Gly817Ser) c.2488G>A (p.Gly830Ser) c.2479G>A (p.Gly827Ser) c.2414G>A c.2428G>A (p.Gly810Ser) c.2467G>A (p.Gly823Ser) c.1205G>A c.2455G>A (p.Gly819Ser) c.346G>A (p.Gly116Ser) n.443G>A n.2068G>A c.1416G>A c.489G>A | dbSNP |
| 12 | g.6593443A>C | CA478132649 | CHD4 | c.2448T>G (p.Arg816=) c.2487T>G (p.Arg829=) c.2478T>G (p.Arg826=) c.2413T>G c.2427T>G (p.Arg809=) c.2466T>G (p.Arg822=) c.1204T>G c.2454T>G (p.Arg818=) c.345T>G (p.Arg115=) n.442T>G n.2067T>G c.1415T>G c.488T>G | |
| 12 | g.6593443A>G | CA478132650 | CHD4 | c.2448T>C (p.Arg816=) c.2487T>C (p.Arg829=) c.2478T>C (p.Arg826=) c.2413T>C c.2427T>C (p.Arg809=) c.2466T>C (p.Arg822=) c.1204T>C c.2454T>C (p.Arg818=) c.345T>C (p.Arg115=) n.442T>C n.2067T>C c.1415T>C c.488T>C | |
| 12 | g.6593443A>T | CA478132651 | CHD4 | c.2448T>A (p.Arg816=) c.2487T>A (p.Arg829=) c.2478T>A (p.Arg826=) c.2413T>A c.2427T>A (p.Arg809=) c.2466T>A (p.Arg822=) c.1204T>A c.2454T>A (p.Arg818=) c.345T>A (p.Arg115=) n.442T>A n.2067T>A c.1415T>A c.488T>A | |
| 12 | g.6593444C>A | CA383592858 | CHD4 | c.2447G>T (p.Arg816Leu) c.2486G>T (p.Arg829Leu) c.2477G>T (p.Arg826Leu) c.2412G>T c.2426G>T (p.Arg809Leu) c.2465G>T (p.Arg822Leu) c.1203G>T c.2453G>T (p.Arg818Leu) c.344G>T (p.Arg115Leu) n.441G>T n.2066G>T c.1414G>T c.487G>T | |
| 12 | g.6593444C>G | CA383592862 | CHD4 | c.2447G>C (p.Arg816Pro) c.2486G>C (p.Arg829Pro) c.2477G>C (p.Arg826Pro) c.2412G>C c.2426G>C (p.Arg809Pro) c.2465G>C (p.Arg822Pro) c.1203G>C c.2453G>C (p.Arg818Pro) c.344G>C (p.Arg115Pro) n.441G>C n.2066G>C c.1414G>C c.487G>C | |
| 12 | g.6593444C>T | CA383592865 | CHD4 | c.2447G>A (p.Arg816His) c.2486G>A (p.Arg829His) c.2477G>A (p.Arg826His) c.2412G>A c.2426G>A (p.Arg809His) c.2465G>A (p.Arg822His) c.1203G>A c.2453G>A (p.Arg818His) c.344G>A (p.Arg115His) n.441G>A n.2066G>A c.1414G>A c.487G>A | gnomAD v4 |
| 12 | g.6593445G>A | CA383592870 | CHD4 | c.2446C>T (p.Arg816Cys) c.2485C>T (p.Arg829Cys) c.2476C>T (p.Arg826Cys) c.2411C>T c.2425C>T (p.Arg809Cys) c.2464C>T (p.Arg822Cys) c.1202C>T c.2452C>T (p.Arg818Cys) c.343C>T (p.Arg115Cys) n.440C>T n.2065C>T c.1413C>T c.486C>T | dbSNP gnomAD v4 |
| 12 | g.6593445G>C | CA383592880 | CHD4 | c.2446C>G (p.Arg816Gly) c.2485C>G (p.Arg829Gly) c.2476C>G (p.Arg826Gly) c.2411C>G c.2425C>G (p.Arg809Gly) c.2464C>G (p.Arg822Gly) c.1202C>G c.2452C>G (p.Arg818Gly) c.343C>G (p.Arg115Gly) n.440C>G n.2065C>G c.1413C>G c.486C>G | |
| 12 | g.6593445G>T | CA383592883 | CHD4 | c.2446C>A (p.Arg816Ser) c.2485C>A (p.Arg829Ser) c.2476C>A (p.Arg826Ser) c.2411C>A c.2425C>A (p.Arg809Ser) c.2464C>A (p.Arg822Ser) c.1202C>A c.2452C>A (p.Arg818Ser) c.343C>A (p.Arg115Ser) n.440C>A n.2065C>A c.1413C>A c.486C>A | |
| 12 | g.6593446A>C | CA383592886 | CHD4 | c.2445T>G (p.Ile815Met) c.2484T>G (p.Ile828Met) c.2475T>G (p.Ile825Met) c.2410T>G c.2424T>G (p.Ile808Met) c.2463T>G (p.Ile821Met) c.1201T>G c.2451T>G (p.Ile817Met) c.342T>G (p.Ile114Met) n.439T>G n.2064T>G c.1412T>G c.485T>G | |
| 12 | g.6593446A>G | CA478132660 | CHD4 | c.2445T>C (p.Ile815=) c.2484T>C (p.Ile828=) c.2475T>C (p.Ile825=) c.2410T>C c.2424T>C (p.Ile808=) c.2463T>C (p.Ile821=) c.1201T>C c.2451T>C (p.Ile817=) c.342T>C (p.Ile114=) n.439T>C n.2064T>C c.1412T>C c.485T>C | |
| 12 | g.6593446A>T | CA478132663 | CHD4 | c.2445T>A (p.Ile815=) c.2484T>A (p.Ile828=) c.2475T>A (p.Ile825=) c.2410T>A c.2424T>A (p.Ile808=) c.2463T>A (p.Ile821=) c.1201T>A c.2451T>A (p.Ile817=) c.342T>A (p.Ile114=) n.439T>A n.2064T>A c.1412T>A c.485T>A | |
| 12 | g.6593447A>C | CA383592888 | CHD4 | c.2444T>G (p.Ile815Ser) c.2483T>G (p.Ile828Ser) c.2474T>G (p.Ile825Ser) c.2409T>G c.2423T>G (p.Ile808Ser) c.2462T>G (p.Ile821Ser) c.1200T>G c.2450T>G (p.Ile817Ser) c.341T>G (p.Ile114Ser) n.438T>G n.2063T>G c.1411T>G c.484T>G | |
| 12 | g.6593447A>G | CA383592891 | CHD4 | c.2444T>C (p.Ile815Thr) c.2483T>C (p.Ile828Thr) c.2474T>C (p.Ile825Thr) c.2409T>C c.2423T>C (p.Ile808Thr) c.2462T>C (p.Ile821Thr) c.1200T>C c.2450T>C (p.Ile817Thr) c.341T>C (p.Ile114Thr) n.438T>C n.2063T>C c.1411T>C c.484T>C | |
| 12 | g.6593447A>T | CA383592895 | CHD4 | c.2444T>A (p.Ile815Asn) c.2483T>A (p.Ile828Asn) c.2474T>A (p.Ile825Asn) c.2409T>A c.2423T>A (p.Ile808Asn) c.2462T>A (p.Ile821Asn) c.1200T>A c.2450T>A (p.Ile817Asn) c.341T>A (p.Ile114Asn) n.438T>A n.2063T>A c.1411T>A c.484T>A | |
| 12 | g.6593448T>A | CA383592905 | CHD4 | c.2443A>T (p.Ile815Phe) c.2482A>T (p.Ile828Phe) c.2473A>T (p.Ile825Phe) c.2408A>T c.2422A>T (p.Ile808Phe) c.2461A>T (p.Ile821Phe) c.1199A>T c.2449A>T (p.Ile817Phe) c.340A>T (p.Ile114Phe) n.437A>T n.2062A>T c.1410A>T c.483A>T | |
| 12 | g.6593448T>C | CA383592907 | CHD4 | c.2443A>G (p.Ile815Val) c.2482A>G (p.Ile828Val) c.2473A>G (p.Ile825Val) c.2408A>G c.2422A>G (p.Ile808Val) c.2461A>G (p.Ile821Val) c.1199A>G c.2449A>G (p.Ile817Val) c.340A>G (p.Ile114Val) n.437A>G n.2062A>G c.1410A>G c.483A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593448T>G | CA383592900 | CHD4 | c.2443A>C (p.Ile815Leu) c.2482A>C (p.Ile828Leu) c.2473A>C (p.Ile825Leu) c.2408A>C c.2422A>C (p.Ile808Leu) c.2461A>C (p.Ile821Leu) c.1199A>C c.2449A>C (p.Ile817Leu) c.340A>C (p.Ile114Leu) n.437A>C n.2062A>C c.1410A>C c.483A>C | |
| 12 | g.6593448T= | CA2014149513 | CHD4 | c.2443A= (p.Ile815=) c.2482A= (p.Ile828=) c.2473A= (p.Ile825=) c.2408A= c.2422A= (p.Ile808=) c.2461A= (p.Ile821=) c.1199A= c.2449A= (p.Ile817=) c.340A= (p.Ile114=) n.437A= n.2062A= c.1410A= c.483A= | |
| 12 | g.6593449G>A | CA478132674 | CHD4 | c.2442C>T (p.Ala814=) c.2481C>T (p.Ala827=) c.2472C>T (p.Ala824=) c.2407C>T c.2421C>T (p.Ala807=) c.2460C>T (p.Ala820=) c.1198C>T c.2448C>T (p.Ala816=) c.339C>T (p.Ala113=) n.436C>T n.2061C>T c.1409C>T c.482C>T | COSMIC COSMIC COSMIC |
| 12 | g.6593449G>C | CA478132676 | CHD4 | c.2442C>G (p.Ala814=) c.2481C>G (p.Ala827=) c.2472C>G (p.Ala824=) c.2407C>G c.2421C>G (p.Ala807=) c.2460C>G (p.Ala820=) c.1198C>G c.2448C>G (p.Ala816=) c.339C>G (p.Ala113=) n.436C>G n.2061C>G c.1409C>G c.482C>G | |
| 12 | g.6593449G>T | CA478132679 | CHD4 | c.2442C>A (p.Ala814=) c.2481C>A (p.Ala827=) c.2472C>A (p.Ala824=) c.2407C>A c.2421C>A (p.Ala807=) c.2460C>A (p.Ala820=) c.1198C>A c.2448C>A (p.Ala816=) c.339C>A (p.Ala113=) n.436C>A n.2061C>A c.1409C>A c.482C>A | |
| 12 | g.6593450G>A | CA383592913 | CHD4 | c.2441C>T (p.Ala814Val) c.2480C>T (p.Ala827Val) c.2471C>T (p.Ala824Val) c.2406C>T c.2420C>T (p.Ala807Val) c.2459C>T (p.Ala820Val) c.1197C>T c.2447C>T (p.Ala816Val) c.338C>T (p.Ala113Val) n.435C>T n.2060C>T c.1408C>T c.481C>T | dbSNP |
| 12 | g.6593450G>C | CA383592917 | CHD4 | c.2441C>G (p.Ala814Gly) c.2480C>G (p.Ala827Gly) c.2471C>G (p.Ala824Gly) c.2406C>G c.2420C>G (p.Ala807Gly) c.2459C>G (p.Ala820Gly) c.1197C>G c.2447C>G (p.Ala816Gly) c.338C>G (p.Ala113Gly) n.435C>G n.2060C>G c.1408C>G c.481C>G | |
| 12 | g.6593450G>T | CA383592921 | CHD4 | c.2441C>A (p.Ala814Asp) c.2480C>A (p.Ala827Asp) c.2471C>A (p.Ala824Asp) c.2406C>A c.2420C>A (p.Ala807Asp) c.2459C>A (p.Ala820Asp) c.1197C>A c.2447C>A (p.Ala816Asp) c.338C>A (p.Ala113Asp) n.435C>A n.2060C>A c.1408C>A c.481C>A | |
| 12 | g.6593451C>A | CA383592924 | CHD4 | c.2440G>T (p.Ala814Ser) c.2479G>T (p.Ala827Ser) c.2470G>T (p.Ala824Ser) c.2405G>T c.2419G>T (p.Ala807Ser) c.2458G>T (p.Ala820Ser) c.1196G>T c.2446G>T (p.Ala816Ser) c.337G>T (p.Ala113Ser) n.434G>T n.2059G>T c.1407G>T c.480G>T | |
| 12 | g.6593451C>G | CA383592926 | CHD4 | c.2440G>C (p.Ala814Pro) c.2479G>C (p.Ala827Pro) c.2470G>C (p.Ala824Pro) c.2405G>C c.2419G>C (p.Ala807Pro) c.2458G>C (p.Ala820Pro) c.1196G>C c.2446G>C (p.Ala816Pro) c.337G>C (p.Ala113Pro) n.434G>C n.2059G>C c.1407G>C c.480G>C | |
| 12 | g.6593451C>T | CA383592929 | CHD4 | c.2440G>A (p.Ala814Thr) c.2479G>A (p.Ala827Thr) c.2470G>A (p.Ala824Thr) c.2405G>A c.2419G>A (p.Ala807Thr) c.2458G>A (p.Ala820Thr) c.1196G>A c.2446G>A (p.Ala816Thr) c.337G>A (p.Ala113Thr) n.434G>A n.2059G>A c.1407G>A c.480G>A | |
| 12 | g.6593451_6593453delinsCAT | CA2014149516 | CHD4 | c.2438_2440delinsATG (p.Asn813=) c.2477_2479delinsATG (p.Asn826=) c.2468_2470delinsATG (p.Asn823=) c.2403_2405delinsATG c.2417_2419delinsATG (p.Asn806=) c.2456_2458delinsATG (p.Asn819=) c.1194_1196delinsATG c.2444_2446delinsATG (p.Asn815=) c.335_337delinsATG (p.Asn112=) n.432_434delinsATG n.2057_2059delinsATG c.1405_1407delinsATG c.478_480delinsATG | |
| 12 | g.6593452A= | CA2014149520 | CHD4 | c.2439T= (p.Asn813=) c.2478T= (p.Asn826=) c.2469T= (p.Asn823=) c.2404T= c.2418T= (p.Asn806=) c.2457T= (p.Asn819=) c.1195T= c.2445T= (p.Asn815=) c.336T= (p.Asn112=) n.433T= n.2058T= c.1406T= c.479T= | |
| 12 | g.6593452A>C | CA383592930 | CHD4 | c.2439T>G (p.Asn813Lys) c.2478T>G (p.Asn826Lys) c.2469T>G (p.Asn823Lys) c.2404T>G c.2418T>G (p.Asn806Lys) c.2457T>G (p.Asn819Lys) c.1195T>G c.2445T>G (p.Asn815Lys) c.336T>G (p.Asn112Lys) n.433T>G n.2058T>G c.1406T>G c.479T>G | ClinVar dbSNP |
| 12 | g.6593452A>G | CA478132691 | CHD4 | c.2439T>C (p.Asn813=) c.2478T>C (p.Asn826=) c.2469T>C (p.Asn823=) c.2404T>C c.2418T>C (p.Asn806=) c.2457T>C (p.Asn819=) c.1195T>C c.2445T>C (p.Asn815=) c.336T>C (p.Asn112=) n.433T>C n.2058T>C c.1406T>C c.479T>C | gnomAD v4 |
| 12 | g.6593452A>T | CA383592931 | CHD4 | c.2439T>A (p.Asn813Lys) c.2478T>A (p.Asn826Lys) c.2469T>A (p.Asn823Lys) c.2404T>A c.2418T>A (p.Asn806Lys) c.2457T>A (p.Asn819Lys) c.1195T>A c.2445T>A (p.Asn815Lys) c.336T>A (p.Asn112Lys) n.433T>A n.2058T>A c.1406T>A c.479T>A | |
| 12 | g.6593452_6593453del | CA6411959 | CHD4 | c.2438_2439del (p.Asn813SerfsTer27) c.2477_2478del (p.Asn826SerfsTer27) c.2468_2469del (p.Asn823SerfsTer27) c.2403_2404del c.2417_2418del (p.Asn806SerfsTer27) c.2456_2457del (p.Asn819SerfsTer27) c.1194_1195del c.2444_2445del (p.Asn815SerfsTer27) c.335_336del (p.Asn112SerfsTer27) n.432_433del n.2057_2058del c.1405_1406del c.478_479del | dbSNP ExAC |
| 12 | g.6593453T>A | CA383592941 | CHD4 | c.2438A>T (p.Asn813Ile) c.2477A>T (p.Asn826Ile) c.2468A>T (p.Asn823Ile) c.2403A>T c.2417A>T (p.Asn806Ile) c.2456A>T (p.Asn819Ile) c.1194A>T c.2444A>T (p.Asn815Ile) c.335A>T (p.Asn112Ile) n.432A>T n.2057A>T c.1405A>T c.478A>T | |
| 12 | g.6593453T>C | CA6411960 | CHD4 | c.2438A>G (p.Asn813Ser) c.2477A>G (p.Asn826Ser) c.2468A>G (p.Asn823Ser) c.2403A>G c.2417A>G (p.Asn806Ser) c.2456A>G (p.Asn819Ser) c.1194A>G c.2444A>G (p.Asn815Ser) c.335A>G (p.Asn112Ser) n.432A>G n.2057A>G c.1405A>G c.478A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6593453T>G | CA383592943 | CHD4 | c.2438A>C (p.Asn813Thr) c.2477A>C (p.Asn826Thr) c.2468A>C (p.Asn823Thr) c.2403A>C c.2417A>C (p.Asn806Thr) c.2456A>C (p.Asn819Thr) c.1194A>C c.2444A>C (p.Asn815Thr) c.335A>C (p.Asn112Thr) n.432A>C n.2057A>C c.1405A>C c.478A>C | |
| 12 | g.6593453T= | CA2014149524 | CHD4 | c.2438A= (p.Asn813=) c.2477A= (p.Asn826=) c.2468A= (p.Asn823=) c.2403A= c.2417A= (p.Asn806=) c.2456A= (p.Asn819=) c.1194A= c.2444A= (p.Asn815=) c.335A= (p.Asn112=) n.432A= n.2057A= c.1405A= c.478A= | |
| 12 | g.6593454T>A | CA383592947 | CHD4 | c.2437A>T (p.Asn813Tyr) c.2476A>T (p.Asn826Tyr) c.2467A>T (p.Asn823Tyr) c.2402A>T c.2416A>T (p.Asn806Tyr) c.2455A>T (p.Asn819Tyr) c.1193A>T c.2443A>T (p.Asn815Tyr) c.334A>T (p.Asn112Tyr) n.431A>T n.2056A>T c.1404A>T c.477A>T | |
| 12 | g.6593454T>C | CA383592949 | CHD4 | c.2437A>G (p.Asn813Asp) c.2476A>G (p.Asn826Asp) c.2467A>G (p.Asn823Asp) c.2402A>G c.2416A>G (p.Asn806Asp) c.2455A>G (p.Asn819Asp) c.1193A>G c.2443A>G (p.Asn815Asp) c.334A>G (p.Asn112Asp) n.431A>G n.2056A>G c.1404A>G c.477A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593454T>G | CA383592945 | CHD4 | c.2437A>C (p.Asn813His) c.2476A>C (p.Asn826His) c.2467A>C (p.Asn823His) c.2402A>C c.2416A>C (p.Asn806His) c.2455A>C (p.Asn819His) c.1193A>C c.2443A>C (p.Asn815His) c.334A>C (p.Asn112His) n.431A>C n.2056A>C c.1404A>C c.477A>C | |
| 12 | g.6593454T= | CA2014149531 | CHD4 | c.2437A= (p.Asn813=) c.2476A= (p.Asn826=) c.2467A= (p.Asn823=) c.2402A= c.2416A= (p.Asn806=) c.2455A= (p.Asn819=) c.1193A= c.2443A= (p.Asn815=) c.334A= (p.Asn112=) n.431A= n.2056A= c.1404A= c.477A= | |
| 12 | g.6593455G>A | CA478132713 | CHD4 | c.2436C>T (p.Asp812=) c.2475C>T (p.Asp825=) c.2466C>T (p.Asp822=) c.2401C>T c.2415C>T (p.Asp805=) c.2454C>T (p.Asp818=) c.1192C>T c.2442C>T (p.Asp814=) c.333C>T (p.Asp111=) n.430C>T n.2055C>T c.1403C>T c.476C>T | |
| 12 | g.6593455G>C | CA383592952 | CHD4 | c.2436C>G (p.Asp812Glu) c.2475C>G (p.Asp825Glu) c.2466C>G (p.Asp822Glu) c.2401C>G c.2415C>G (p.Asp805Glu) c.2454C>G (p.Asp818Glu) c.1192C>G c.2442C>G (p.Asp814Glu) c.333C>G (p.Asp111Glu) n.430C>G n.2055C>G c.1403C>G c.476C>G | |
| 12 | g.6593455G>T | CA383592954 | CHD4 | c.2436C>A (p.Asp812Glu) c.2475C>A (p.Asp825Glu) c.2466C>A (p.Asp822Glu) c.2401C>A c.2415C>A (p.Asp805Glu) c.2454C>A (p.Asp818Glu) c.1192C>A c.2442C>A (p.Asp814Glu) c.333C>A (p.Asp111Glu) n.430C>A n.2055C>A c.1403C>A c.476C>A | |
| 12 | g.6593455_6593462delinsGTCTTCAA | CA2014149532 | CHD4 | c.2429_2436delinsTTGAAGAC (p.Phe810=) c.2468_2475delinsTTGAAGAC (p.Phe823=) c.2459_2466delinsTTGAAGAC (p.Phe820=) c.2394_2401delinsTTGAAGAC c.2408_2415delinsTTGAAGAC (p.Phe803=) c.2447_2454delinsTTGAAGAC (p.Phe816=) c.1185_1192delinsTTGAAGAC c.2435_2442delinsTTGAAGAC (p.Phe812=) c.326_333delinsTTGAAGAC (p.Phe109=) n.423_430delinsTTGAAGAC n.2048_2055delinsTTGAAGAC c.1396_1403delinsTTGAAGAC c.469_476delinsTTGAAGAC | |
| 12 | g.6593456T>A | CA383592958 | CHD4 | c.2435A>T (p.Asp812Val) c.2474A>T (p.Asp825Val) c.2465A>T (p.Asp822Val) c.2400A>T c.2414A>T (p.Asp805Val) c.2453A>T (p.Asp818Val) c.1191A>T c.2441A>T (p.Asp814Val) c.332A>T (p.Asp111Val) n.429A>T n.2054A>T c.1402A>T c.475A>T | |
| 12 | g.6593456T>C | CA383592961 | CHD4 | c.2435A>G (p.Asp812Gly) c.2474A>G (p.Asp825Gly) c.2465A>G (p.Asp822Gly) c.2400A>G c.2414A>G (p.Asp805Gly) c.2453A>G (p.Asp818Gly) c.1191A>G c.2441A>G (p.Asp814Gly) c.332A>G (p.Asp111Gly) n.429A>G n.2054A>G c.1402A>G c.475A>G | |
| 12 | g.6593456T>G | CA383592963 | CHD4 | c.2435A>C (p.Asp812Ala) c.2474A>C (p.Asp825Ala) c.2465A>C (p.Asp822Ala) c.2400A>C c.2414A>C (p.Asp805Ala) c.2453A>C (p.Asp818Ala) c.1191A>C c.2441A>C (p.Asp814Ala) c.332A>C (p.Asp111Ala) n.429A>C n.2054A>C c.1402A>C c.475A>C | |
| 12 | g.6593456_6593462del | CA6411961 | CHD4 | c.2429_2435del (p.Phe810SerfsTer13) c.2468_2474del (p.Phe823SerfsTer13) c.2459_2465del (p.Phe820SerfsTer13) c.2394_2400del c.2408_2414del (p.Phe803SerfsTer13) c.2447_2453del (p.Phe816SerfsTer13) c.1185_1191del c.2435_2441del (p.Phe812SerfsTer13) c.326_332del (p.Phe109SerfsTer13) n.423_429del n.2048_2054del c.1396_1402del c.469_475del | dbSNP ExAC |
| 12 | g.6593457C>A | CA383592970 | CHD4 | c.2434G>T (p.Asp812Tyr) c.2473G>T (p.Asp825Tyr) c.2464G>T (p.Asp822Tyr) c.2399G>T c.2413G>T (p.Asp805Tyr) c.2452G>T (p.Asp818Tyr) c.1190G>T c.2440G>T (p.Asp814Tyr) c.331G>T (p.Asp111Tyr) n.428G>T n.2053G>T c.1401G>T c.474G>T | |
| 12 | g.6593457C>G | CA383592975 | CHD4 | c.2434G>C (p.Asp812His) c.2473G>C (p.Asp825His) c.2464G>C (p.Asp822His) c.2399G>C c.2413G>C (p.Asp805His) c.2452G>C (p.Asp818His) c.1190G>C c.2440G>C (p.Asp814His) c.331G>C (p.Asp111His) n.428G>C n.2053G>C c.1401G>C c.474G>C | |
| 12 | g.6593457C>T | CA383592973 | CHD4 | c.2434G>A (p.Asp812Asn) c.2473G>A (p.Asp825Asn) c.2464G>A (p.Asp822Asn) c.2399G>A c.2413G>A (p.Asp805Asn) c.2452G>A (p.Asp818Asn) c.1190G>A c.2440G>A (p.Asp814Asn) c.331G>A (p.Asp111Asn) n.428G>A n.2053G>A c.1401G>A c.474G>A |