Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60865280A>C | CA371308514 | CHD7 | n.1517A>C n.448A>C c.*1400A>C (n.*1400A>C) c.8341A>C (p.Thr2781Pro) c.2194A>C (p.Thr732Pro) n.387A>C c.8431A>C (p.Thr2811Pro) c.8428A>C (p.Thr2810Pro) c.8209A>C (p.Thr2737Pro) c.6418A>C (p.Thr2140Pro) c.5968A>C (p.Thr1990Pro) c.5176A>C (p.Thr1726Pro) c.8338A>C (p.Thr2780Pro) | |
8 | g.60865280A>G | CA371308521 | CHD7 | n.1517A>G n.448A>G c.*1400A>G (n.*1400A>G) c.8341A>G (p.Thr2781Ala) c.2194A>G (p.Thr732Ala) n.387A>G c.8431A>G (p.Thr2811Ala) c.8428A>G (p.Thr2810Ala) c.8209A>G (p.Thr2737Ala) c.6418A>G (p.Thr2140Ala) c.5968A>G (p.Thr1990Ala) c.5176A>G (p.Thr1726Ala) c.8338A>G (p.Thr2780Ala) | |
8 | g.60865280A>T | CA371308518 | CHD7 | n.1517A>T n.448A>T c.*1400A>T (n.*1400A>T) c.8341A>T (p.Thr2781Ser) c.2194A>T (p.Thr732Ser) n.387A>T c.8431A>T (p.Thr2811Ser) c.8428A>T (p.Thr2810Ser) c.8209A>T (p.Thr2737Ser) c.6418A>T (p.Thr2140Ser) c.5968A>T (p.Thr1990Ser) c.5176A>T (p.Thr1726Ser) c.8338A>T (p.Thr2780Ser) | |
8 | g.60865281C>A | CA371308527 | CHD7 | n.1518C>A n.449C>A c.*1401C>A (n.*1401C>A) c.8342C>A (p.Thr2781Lys) c.2195C>A (p.Thr732Lys) n.388C>A c.8432C>A (p.Thr2811Lys) c.8429C>A (p.Thr2810Lys) c.8210C>A (p.Thr2737Lys) c.6419C>A (p.Thr2140Lys) c.5969C>A (p.Thr1990Lys) c.5177C>A (p.Thr1726Lys) c.8339C>A (p.Thr2780Lys) | |
8 | g.60865281C= | CA1788129736 | CHD7 | n.1518C= n.449C= c.*1401C= (n.*1401C=) c.8342C= (p.Thr2781=) c.2195C= (p.Thr732=) n.388C= c.8432C= (p.Thr2811=) c.8429C= (p.Thr2810=) c.8210C= (p.Thr2737=) c.6419C= (p.Thr2140=) c.5969C= (p.Thr1990=) c.5177C= (p.Thr1726=) c.8339C= (p.Thr2780=) | |
8 | g.60865281C>G | CA371308530 | CHD7 | n.1518C>G n.449C>G c.*1401C>G (n.*1401C>G) c.8342C>G (p.Thr2781Arg) c.2195C>G (p.Thr732Arg) n.388C>G c.8432C>G (p.Thr2811Arg) c.8429C>G (p.Thr2810Arg) c.8210C>G (p.Thr2737Arg) c.6419C>G (p.Thr2140Arg) c.5969C>G (p.Thr1990Arg) c.5177C>G (p.Thr1726Arg) c.8339C>G (p.Thr2780Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865281C>T | CA371308534 | CHD7 | n.1518C>T n.449C>T c.*1401C>T (n.*1401C>T) c.8342C>T (p.Thr2781Ile) c.2195C>T (p.Thr732Ile) n.388C>T c.8432C>T (p.Thr2811Ile) c.8429C>T (p.Thr2810Ile) c.8210C>T (p.Thr2737Ile) c.6419C>T (p.Thr2140Ile) c.5969C>T (p.Thr1990Ile) c.5177C>T (p.Thr1726Ile) c.8339C>T (p.Thr2780Ile) | gnomAD v4 |
8 | g.60865282A>C | CA461105901 | CHD7 | n.1519A>C n.450A>C c.*1402A>C (n.*1402A>C) c.8343A>C (p.Thr2781=) c.2196A>C (p.Thr732=) n.389A>C c.8433A>C (p.Thr2811=) c.8430A>C (p.Thr2810=) c.8211A>C (p.Thr2737=) c.6420A>C (p.Thr2140=) c.5970A>C (p.Thr1990=) c.5178A>C (p.Thr1726=) c.8340A>C (p.Thr2780=) | |
8 | g.60865282A>G | CA461105902 | CHD7 | n.1519A>G n.450A>G c.*1402A>G (n.*1402A>G) c.8343A>G (p.Thr2781=) c.2196A>G (p.Thr732=) n.389A>G c.8433A>G (p.Thr2811=) c.8430A>G (p.Thr2810=) c.8211A>G (p.Thr2737=) c.6420A>G (p.Thr2140=) c.5970A>G (p.Thr1990=) c.5178A>G (p.Thr1726=) c.8340A>G (p.Thr2780=) | |
8 | g.60865282A>T | CA461105903 | CHD7 | n.1519A>T n.450A>T c.*1402A>T (n.*1402A>T) c.8343A>T (p.Thr2781=) c.2196A>T (p.Thr732=) n.389A>T c.8433A>T (p.Thr2811=) c.8430A>T (p.Thr2810=) c.8211A>T (p.Thr2737=) c.6420A>T (p.Thr2140=) c.5970A>T (p.Thr1990=) c.5178A>T (p.Thr1726=) c.8340A>T (p.Thr2780=) | |
8 | g.60865283G>A | CA371308539 | CHD7 | n.1520G>A n.451G>A c.*1403G>A (n.*1403G>A) c.8344G>A (p.Ala2782Thr) c.2197G>A (p.Ala733Thr) n.390G>A c.8434G>A (p.Ala2812Thr) c.8431G>A (p.Ala2811Thr) c.8212G>A (p.Ala2738Thr) c.6421G>A (p.Ala2141Thr) c.5971G>A (p.Ala1991Thr) c.5179G>A (p.Ala1727Thr) c.8341G>A (p.Ala2781Thr) | gnomAD v4 |
8 | g.60865283G>C | CA371308542 | CHD7 | n.1520G>C n.451G>C c.*1403G>C (n.*1403G>C) c.8344G>C (p.Ala2782Pro) c.2197G>C (p.Ala733Pro) n.390G>C c.8434G>C (p.Ala2812Pro) c.8431G>C (p.Ala2811Pro) c.8212G>C (p.Ala2738Pro) c.6421G>C (p.Ala2141Pro) c.5971G>C (p.Ala1991Pro) c.5179G>C (p.Ala1727Pro) c.8341G>C (p.Ala2781Pro) | |
8 | g.60865283G>T | CA371308545 | CHD7 | n.1520G>T n.451G>T c.*1403G>T (n.*1403G>T) c.8344G>T (p.Ala2782Ser) c.2197G>T (p.Ala733Ser) n.390G>T c.8434G>T (p.Ala2812Ser) c.8431G>T (p.Ala2811Ser) c.8212G>T (p.Ala2738Ser) c.6421G>T (p.Ala2141Ser) c.5971G>T (p.Ala1991Ser) c.5179G>T (p.Ala1727Ser) c.8341G>T (p.Ala2781Ser) | gnomAD v4 |
8 | g.60865284C>A | CA371308550 | CHD7 | n.1521C>A n.452C>A c.*1404C>A (n.*1404C>A) c.8345C>A (p.Ala2782Asp) c.2198C>A (p.Ala733Asp) n.391C>A c.8435C>A (p.Ala2812Asp) c.8432C>A (p.Ala2811Asp) c.8213C>A (p.Ala2738Asp) c.6422C>A (p.Ala2141Asp) c.5972C>A (p.Ala1991Asp) c.5180C>A (p.Ala1727Asp) c.8342C>A (p.Ala2781Asp) | gnomAD v4 |
8 | g.60865284C= | CA1788129741 | CHD7 | n.1521C= n.452C= c.*1404C= (n.*1404C=) c.8345C= (p.Ala2782=) c.2198C= (p.Ala733=) n.391C= c.8435C= (p.Ala2812=) c.8432C= (p.Ala2811=) c.8213C= (p.Ala2738=) c.6422C= (p.Ala2141=) c.5972C= (p.Ala1991=) c.5180C= (p.Ala1727=) c.8342C= (p.Ala2781=) | |
8 | g.60865284C>G | CA371308552 | CHD7 | n.1521C>G n.452C>G c.*1404C>G (n.*1404C>G) c.8345C>G (p.Ala2782Gly) c.2198C>G (p.Ala733Gly) n.391C>G c.8435C>G (p.Ala2812Gly) c.8432C>G (p.Ala2811Gly) c.8213C>G (p.Ala2738Gly) c.6422C>G (p.Ala2141Gly) c.5972C>G (p.Ala1991Gly) c.5180C>G (p.Ala1727Gly) c.8342C>G (p.Ala2781Gly) | |
8 | g.60865284C>T | CA371308562 | CHD7 | n.1521C>T n.452C>T c.*1404C>T (n.*1404C>T) c.8345C>T (p.Ala2782Val) c.2198C>T (p.Ala733Val) n.391C>T c.8435C>T (p.Ala2812Val) c.8432C>T (p.Ala2811Val) c.8213C>T (p.Ala2738Val) c.6422C>T (p.Ala2141Val) c.5972C>T (p.Ala1991Val) c.5180C>T (p.Ala1727Val) c.8342C>T (p.Ala2781Val) | dbSNP |
8 | g.60865285T>A | CA461105904 | CHD7 | n.1522T>A n.453T>A c.*1405T>A (n.*1405T>A) c.8346T>A (p.Ala2782=) c.2199T>A (p.Ala733=) n.392T>A c.8436T>A (p.Ala2812=) c.8433T>A (p.Ala2811=) c.8214T>A (p.Ala2738=) c.6423T>A (p.Ala2141=) c.5973T>A (p.Ala1991=) c.5181T>A (p.Ala1727=) c.8343T>A (p.Ala2781=) | |
8 | g.60865285T>C | CA461105905 | CHD7 | n.1522T>C n.453T>C c.*1405T>C (n.*1405T>C) c.8346T>C (p.Ala2782=) c.2199T>C (p.Ala733=) n.392T>C c.8436T>C (p.Ala2812=) c.8433T>C (p.Ala2811=) c.8214T>C (p.Ala2738=) c.6423T>C (p.Ala2141=) c.5973T>C (p.Ala1991=) c.5181T>C (p.Ala1727=) c.8343T>C (p.Ala2781=) | |
8 | g.60865285T>G | CA461105906 | CHD7 | n.1522T>G n.453T>G c.*1405T>G (n.*1405T>G) c.8346T>G (p.Ala2782=) c.2199T>G (p.Ala733=) n.392T>G c.8436T>G (p.Ala2812=) c.8433T>G (p.Ala2811=) c.8214T>G (p.Ala2738=) c.6423T>G (p.Ala2141=) c.5973T>G (p.Ala1991=) c.5181T>G (p.Ala1727=) c.8343T>G (p.Ala2781=) | |
8 | g.60865286G>A | CA371308567 | CHD7 | n.1523G>A n.454G>A c.*1406G>A (n.*1406G>A) c.8347G>A (p.Ala2783Thr) c.2200G>A (p.Ala734Thr) n.393G>A c.8437G>A (p.Ala2813Thr) c.8434G>A (p.Ala2812Thr) c.8215G>A (p.Ala2739Thr) c.6424G>A (p.Ala2142Thr) c.5974G>A (p.Ala1992Thr) c.5182G>A (p.Ala1728Thr) c.8344G>A (p.Ala2782Thr) | |
8 | g.60865286G>C | CA371308570 | CHD7 | n.1523G>C n.454G>C c.*1406G>C (n.*1406G>C) c.8347G>C (p.Ala2783Pro) c.2200G>C (p.Ala734Pro) n.393G>C c.8437G>C (p.Ala2813Pro) c.8434G>C (p.Ala2812Pro) c.8215G>C (p.Ala2739Pro) c.6424G>C (p.Ala2142Pro) c.5974G>C (p.Ala1992Pro) c.5182G>C (p.Ala1728Pro) c.8344G>C (p.Ala2782Pro) | |
8 | g.60865286G>T | CA371308572 | CHD7 | n.1523G>T n.454G>T c.*1406G>T (n.*1406G>T) c.8347G>T (p.Ala2783Ser) c.2200G>T (p.Ala734Ser) n.393G>T c.8437G>T (p.Ala2813Ser) c.8434G>T (p.Ala2812Ser) c.8215G>T (p.Ala2739Ser) c.6424G>T (p.Ala2142Ser) c.5974G>T (p.Ala1992Ser) c.5182G>T (p.Ala1728Ser) c.8344G>T (p.Ala2782Ser) | gnomAD v4 |
8 | g.60865287C>A | CA371308578 | CHD7 | n.1524C>A n.455C>A c.*1407C>A (n.*1407C>A) c.8348C>A (p.Ala2783Asp) c.2201C>A (p.Ala734Asp) n.394C>A c.8438C>A (p.Ala2813Asp) c.8435C>A (p.Ala2812Asp) c.8216C>A (p.Ala2739Asp) c.6425C>A (p.Ala2142Asp) c.5975C>A (p.Ala1992Asp) c.5183C>A (p.Ala1728Asp) c.8345C>A (p.Ala2782Asp) | |
8 | g.60865287C>G | CA371308583 | CHD7 | n.1524C>G n.455C>G c.*1407C>G (n.*1407C>G) c.8348C>G (p.Ala2783Gly) c.2201C>G (p.Ala734Gly) n.394C>G c.8438C>G (p.Ala2813Gly) c.8435C>G (p.Ala2812Gly) c.8216C>G (p.Ala2739Gly) c.6425C>G (p.Ala2142Gly) c.5975C>G (p.Ala1992Gly) c.5183C>G (p.Ala1728Gly) c.8345C>G (p.Ala2782Gly) | |
8 | g.60865287C>T | CA371308579 | CHD7 | n.1524C>T n.455C>T c.*1407C>T (n.*1407C>T) c.8348C>T (p.Ala2783Val) c.2201C>T (p.Ala734Val) n.394C>T c.8438C>T (p.Ala2813Val) c.8435C>T (p.Ala2812Val) c.8216C>T (p.Ala2739Val) c.6425C>T (p.Ala2142Val) c.5975C>T (p.Ala1992Val) c.5183C>T (p.Ala1728Val) c.8345C>T (p.Ala2782Val) | |
8 | g.60865288C>A | CA461105907 | CHD7 | n.1525C>A n.456C>A c.*1408C>A (n.*1408C>A) c.8349C>A (p.Ala2783=) c.2202C>A (p.Ala734=) n.395C>A c.8439C>A (p.Ala2813=) c.8436C>A (p.Ala2812=) c.8217C>A (p.Ala2739=) c.6426C>A (p.Ala2142=) c.5976C>A (p.Ala1992=) c.5184C>A (p.Ala1728=) c.8346C>A (p.Ala2782=) | |
8 | g.60865288C>G | CA461105908 | CHD7 | n.1525C>G n.456C>G c.*1408C>G (n.*1408C>G) c.8349C>G (p.Ala2783=) c.2202C>G (p.Ala734=) n.395C>G c.8439C>G (p.Ala2813=) c.8436C>G (p.Ala2812=) c.8217C>G (p.Ala2739=) c.6426C>G (p.Ala2142=) c.5976C>G (p.Ala1992=) c.5184C>G (p.Ala1728=) c.8346C>G (p.Ala2782=) | |
8 | g.60865288C>T | CA461105909 | CHD7 | n.1525C>T n.456C>T c.*1408C>T (n.*1408C>T) c.8349C>T (p.Ala2783=) c.2202C>T (p.Ala734=) n.395C>T c.8439C>T (p.Ala2813=) c.8436C>T (p.Ala2812=) c.8217C>T (p.Ala2739=) c.6426C>T (p.Ala2142=) c.5976C>T (p.Ala1992=) c.5184C>T (p.Ala1728=) c.8346C>T (p.Ala2782=) | |
8 | g.60865289A= | CA1788129770 | CHD7 | n.1526A= n.457A= c.*1409A= (n.*1409A=) c.8350A= (p.Thr2784=) c.2203A= (p.Thr735=) n.396A= c.8440A= (p.Thr2814=) c.8437A= (p.Thr2813=) c.8218A= (p.Thr2740=) c.6427A= (p.Thr2143=) c.5977A= (p.Thr1993=) c.5185A= (p.Thr1729=) c.8347A= (p.Thr2783=) | |
8 | g.60865289A>C | CA371308588 | CHD7 | n.1526A>C n.457A>C c.*1409A>C (n.*1409A>C) c.8350A>C (p.Thr2784Pro) c.2203A>C (p.Thr735Pro) n.396A>C c.8440A>C (p.Thr2814Pro) c.8437A>C (p.Thr2813Pro) c.8218A>C (p.Thr2740Pro) c.6427A>C (p.Thr2143Pro) c.5977A>C (p.Thr1993Pro) c.5185A>C (p.Thr1729Pro) c.8347A>C (p.Thr2783Pro) | dbSNP |
8 | g.60865289A>G | CA371308590 | CHD7 | n.1526A>G n.457A>G c.*1409A>G (n.*1409A>G) c.8350A>G (p.Thr2784Ala) c.2203A>G (p.Thr735Ala) n.396A>G c.8440A>G (p.Thr2814Ala) c.8437A>G (p.Thr2813Ala) c.8218A>G (p.Thr2740Ala) c.6427A>G (p.Thr2143Ala) c.5977A>G (p.Thr1993Ala) c.5185A>G (p.Thr1729Ala) c.8347A>G (p.Thr2783Ala) | |
8 | g.60865289A>T | CA371308594 | CHD7 | n.1526A>T n.457A>T c.*1409A>T (n.*1409A>T) c.8350A>T (p.Thr2784Ser) c.2203A>T (p.Thr735Ser) n.396A>T c.8440A>T (p.Thr2814Ser) c.8437A>T (p.Thr2813Ser) c.8218A>T (p.Thr2740Ser) c.6427A>T (p.Thr2143Ser) c.5977A>T (p.Thr1993Ser) c.5185A>T (p.Thr1729Ser) c.8347A>T (p.Thr2783Ser) | |
8 | g.60865290C>A | CA371308596 | CHD7 | n.1527C>A n.458C>A c.*1410C>A (n.*1410C>A) c.8351C>A (p.Thr2784Asn) c.2204C>A (p.Thr735Asn) n.397C>A c.8441C>A (p.Thr2814Asn) c.8438C>A (p.Thr2813Asn) c.8219C>A (p.Thr2740Asn) c.6428C>A (p.Thr2143Asn) c.5978C>A (p.Thr1993Asn) c.5186C>A (p.Thr1729Asn) c.8348C>A (p.Thr2783Asn) | |
8 | g.60865290C>G | CA371308600 | CHD7 | n.1527C>G n.458C>G c.*1410C>G (n.*1410C>G) c.8351C>G (p.Thr2784Ser) c.2204C>G (p.Thr735Ser) n.397C>G c.8441C>G (p.Thr2814Ser) c.8438C>G (p.Thr2813Ser) c.8219C>G (p.Thr2740Ser) c.6428C>G (p.Thr2143Ser) c.5978C>G (p.Thr1993Ser) c.5186C>G (p.Thr1729Ser) c.8348C>G (p.Thr2783Ser) | |
8 | g.60865290C>T | CA371308603 | CHD7 | n.1527C>T n.458C>T c.*1410C>T (n.*1410C>T) c.8351C>T (p.Thr2784Ile) c.2204C>T (p.Thr735Ile) n.397C>T c.8441C>T (p.Thr2814Ile) c.8438C>T (p.Thr2813Ile) c.8219C>T (p.Thr2740Ile) c.6428C>T (p.Thr2143Ile) c.5978C>T (p.Thr1993Ile) c.5186C>T (p.Thr1729Ile) c.8348C>T (p.Thr2783Ile) | |
8 | g.60865291C>A | CA4760993 | CHD7 | n.1528C>A n.459C>A c.*1411C>A (n.*1411C>A) c.8352C>A (p.Thr2784=) c.2205C>A (p.Thr735=) n.398C>A c.8442C>A (p.Thr2814=) c.8439C>A (p.Thr2813=) c.8220C>A (p.Thr2740=) c.6429C>A (p.Thr2143=) c.5979C>A (p.Thr1993=) c.5187C>A (p.Thr1729=) c.8349C>A (p.Thr2783=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865291C= | CA1788129774 | CHD7 | n.1528C= n.459C= c.*1411C= (n.*1411C=) c.8352C= (p.Thr2784=) c.2205C= (p.Thr735=) n.398C= c.8442C= (p.Thr2814=) c.8439C= (p.Thr2813=) c.8220C= (p.Thr2740=) c.6429C= (p.Thr2143=) c.5979C= (p.Thr1993=) c.5187C= (p.Thr1729=) c.8349C= (p.Thr2783=) | |
8 | g.60865291C>G | CA461105910 | CHD7 | n.1528C>G n.459C>G c.*1411C>G (n.*1411C>G) c.8352C>G (p.Thr2784=) c.2205C>G (p.Thr735=) n.398C>G c.8442C>G (p.Thr2814=) c.8439C>G (p.Thr2813=) c.8220C>G (p.Thr2740=) c.6429C>G (p.Thr2143=) c.5979C>G (p.Thr1993=) c.5187C>G (p.Thr1729=) c.8349C>G (p.Thr2783=) | |
8 | g.60865291C>T | CA4760992 | CHD7 | n.1528C>T n.459C>T c.*1411C>T (n.*1411C>T) c.8352C>T (p.Thr2784=) c.2205C>T (p.Thr735=) n.398C>T c.8442C>T (p.Thr2814=) c.8439C>T (p.Thr2813=) c.8220C>T (p.Thr2740=) c.6429C>T (p.Thr2143=) c.5979C>T (p.Thr1993=) c.5187C>T (p.Thr1729=) c.8349C>T (p.Thr2783=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865292G>A | CA371308615 | CHD7 | n.1529G>A n.460G>A c.*1412G>A (n.*1412G>A) c.8353G>A (p.Ala2785Thr) c.2206G>A (p.Ala736Thr) n.399G>A c.8443G>A (p.Ala2815Thr) c.8440G>A (p.Ala2814Thr) c.8221G>A (p.Ala2741Thr) c.6430G>A (p.Ala2144Thr) c.5980G>A (p.Ala1994Thr) c.5188G>A (p.Ala1730Thr) c.8350G>A (p.Ala2784Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865292G>C | CA371308618 | CHD7 | n.1529G>C n.460G>C c.*1412G>C (n.*1412G>C) c.8353G>C (p.Ala2785Pro) c.2206G>C (p.Ala736Pro) n.399G>C c.8443G>C (p.Ala2815Pro) c.8440G>C (p.Ala2814Pro) c.8221G>C (p.Ala2741Pro) c.6430G>C (p.Ala2144Pro) c.5980G>C (p.Ala1994Pro) c.5188G>C (p.Ala1730Pro) c.8350G>C (p.Ala2784Pro) | gnomAD v4 |
8 | g.60865292G= | CA1788129779 | CHD7 | n.1529G= n.460G= c.*1412G= (n.*1412G=) c.8353G= (p.Ala2785=) c.2206G= (p.Ala736=) n.399G= c.8443G= (p.Ala2815=) c.8440G= (p.Ala2814=) c.8221G= (p.Ala2741=) c.6430G= (p.Ala2144=) c.5980G= (p.Ala1994=) c.5188G= (p.Ala1730=) c.8350G= (p.Ala2784=) | |
8 | g.60865292G>T | CA177329345 | CHD7 | n.1529G>T n.460G>T c.*1412G>T (n.*1412G>T) c.8353G>T (p.Ala2785Ser) c.2206G>T (p.Ala736Ser) n.399G>T c.8443G>T (p.Ala2815Ser) c.8440G>T (p.Ala2814Ser) c.8221G>T (p.Ala2741Ser) c.6430G>T (p.Ala2144Ser) c.5980G>T (p.Ala1994Ser) c.5188G>T (p.Ala1730Ser) c.8350G>T (p.Ala2784Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865293C>A | CA371308624 | CHD7 | n.1530C>A n.461C>A c.*1413C>A (n.*1413C>A) c.8354C>A (p.Ala2785Asp) c.2207C>A (p.Ala736Asp) n.400C>A c.8444C>A (p.Ala2815Asp) c.8441C>A (p.Ala2814Asp) c.8222C>A (p.Ala2741Asp) c.6431C>A (p.Ala2144Asp) c.5981C>A (p.Ala1994Asp) c.5189C>A (p.Ala1730Asp) c.8351C>A (p.Ala2784Asp) | |
8 | g.60865293C>G | CA371308626 | CHD7 | n.1530C>G n.461C>G c.*1413C>G (n.*1413C>G) c.8354C>G (p.Ala2785Gly) c.2207C>G (p.Ala736Gly) n.400C>G c.8444C>G (p.Ala2815Gly) c.8441C>G (p.Ala2814Gly) c.8222C>G (p.Ala2741Gly) c.6431C>G (p.Ala2144Gly) c.5981C>G (p.Ala1994Gly) c.5189C>G (p.Ala1730Gly) c.8351C>G (p.Ala2784Gly) | |
8 | g.60865293C>T | CA371308630 | CHD7 | n.1530C>T n.461C>T c.*1413C>T (n.*1413C>T) c.8354C>T (p.Ala2785Val) c.2207C>T (p.Ala736Val) n.400C>T c.8444C>T (p.Ala2815Val) c.8441C>T (p.Ala2814Val) c.8222C>T (p.Ala2741Val) c.6431C>T (p.Ala2144Val) c.5981C>T (p.Ala1994Val) c.5189C>T (p.Ala1730Val) c.8351C>T (p.Ala2784Val) | |
8 | g.60865294C>A | CA461105911 | CHD7 | n.1531C>A n.462C>A c.*1414C>A (n.*1414C>A) c.8355C>A (p.Ala2785=) c.2208C>A (p.Ala736=) n.401C>A c.8445C>A (p.Ala2815=) c.8442C>A (p.Ala2814=) c.8223C>A (p.Ala2741=) c.6432C>A (p.Ala2144=) c.5982C>A (p.Ala1994=) c.5190C>A (p.Ala1730=) c.8352C>A (p.Ala2784=) | |
8 | g.60865294C= | CA1788129791 | CHD7 | n.1531C= n.462C= c.*1414C= (n.*1414C=) c.8355C= (p.Ala2785=) c.2208C= (p.Ala736=) n.401C= c.8445C= (p.Ala2815=) c.8442C= (p.Ala2814=) c.8223C= (p.Ala2741=) c.6432C= (p.Ala2144=) c.5982C= (p.Ala1994=) c.5190C= (p.Ala1730=) c.8352C= (p.Ala2784=) | |
8 | g.60865294C>G | CA461105912 | CHD7 | n.1531C>G n.462C>G c.*1414C>G (n.*1414C>G) c.8355C>G (p.Ala2785=) c.2208C>G (p.Ala736=) n.401C>G c.8445C>G (p.Ala2815=) c.8442C>G (p.Ala2814=) c.8223C>G (p.Ala2741=) c.6432C>G (p.Ala2144=) c.5982C>G (p.Ala1994=) c.5190C>G (p.Ala1730=) c.8352C>G (p.Ala2784=) | |
8 | g.60865294C>T | CA4760994 | CHD7 | n.1531C>T n.462C>T c.*1414C>T (n.*1414C>T) c.8355C>T (p.Ala2785=) c.2208C>T (p.Ala736=) n.401C>T c.8445C>T (p.Ala2815=) c.8442C>T (p.Ala2814=) c.8223C>T (p.Ala2741=) c.6432C>T (p.Ala2144=) c.5982C>T (p.Ala1994=) c.5190C>T (p.Ala1730=) c.8352C>T (p.Ala2784=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865295G>A | CA249169 | CHD7 | n.1532G>A n.463G>A c.*1415G>A (n.*1415G>A) c.8356G>A (p.Gly2786Arg) c.2209G>A (p.Gly737Arg) n.402G>A c.8446G>A (p.Gly2816Arg) c.8443G>A (p.Gly2815Arg) c.8224G>A (p.Gly2742Arg) c.6433G>A (p.Gly2145Arg) c.5983G>A (p.Gly1995Arg) c.5191G>A (p.Gly1731Arg) c.8353G>A (p.Gly2785Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865295G>C | CA371308638 | CHD7 | n.1532G>C n.463G>C c.*1415G>C (n.*1415G>C) c.8356G>C (p.Gly2786Arg) c.2209G>C (p.Gly737Arg) n.402G>C c.8446G>C (p.Gly2816Arg) c.8443G>C (p.Gly2815Arg) c.8224G>C (p.Gly2742Arg) c.6433G>C (p.Gly2145Arg) c.5983G>C (p.Gly1995Arg) c.5191G>C (p.Gly1731Arg) c.8353G>C (p.Gly2785Arg) | |
8 | g.60865295G= | CA1788129799 | CHD7 | n.1532G= n.463G= c.*1415G= (n.*1415G=) c.8356G= (p.Gly2786=) c.2209G= (p.Gly737=) n.402G= c.8446G= (p.Gly2816=) c.8443G= (p.Gly2815=) c.8224G= (p.Gly2742=) c.6433G= (p.Gly2145=) c.5983G= (p.Gly1995=) c.5191G= (p.Gly1731=) c.8353G= (p.Gly2785=) | |
8 | g.60865295G>T | CA371308641 | CHD7 | n.1532G>T n.463G>T c.*1415G>T (n.*1415G>T) c.8356G>T (p.Gly2786Ter) c.2209G>T (p.Gly737Ter) n.402G>T c.8446G>T (p.Gly2816Ter) c.8443G>T (p.Gly2815Ter) c.8224G>T (p.Gly2742Ter) c.6433G>T (p.Gly2145Ter) c.5983G>T (p.Gly1995Ter) c.5191G>T (p.Gly1731Ter) c.8353G>T (p.Gly2785Ter) | |
8 | g.60865296G>A | CA371308645 | CHD7 | n.1533G>A n.464G>A c.*1416G>A (n.*1416G>A) c.8357G>A (p.Gly2786Glu) c.2210G>A (p.Gly737Glu) n.403G>A c.8447G>A (p.Gly2816Glu) c.8444G>A (p.Gly2815Glu) c.8225G>A (p.Gly2742Glu) c.6434G>A (p.Gly2145Glu) c.5984G>A (p.Gly1995Glu) c.5192G>A (p.Gly1731Glu) c.8354G>A (p.Gly2785Glu) | |
8 | g.60865296G>C | CA371308648 | CHD7 | n.1533G>C n.464G>C c.*1416G>C (n.*1416G>C) c.8357G>C (p.Gly2786Ala) c.2210G>C (p.Gly737Ala) n.403G>C c.8447G>C (p.Gly2816Ala) c.8444G>C (p.Gly2815Ala) c.8225G>C (p.Gly2742Ala) c.6434G>C (p.Gly2145Ala) c.5984G>C (p.Gly1995Ala) c.5192G>C (p.Gly1731Ala) c.8354G>C (p.Gly2785Ala) | |
8 | g.60865296G>T | CA371308650 | CHD7 | n.1533G>T n.464G>T c.*1416G>T (n.*1416G>T) c.8357G>T (p.Gly2786Val) c.2210G>T (p.Gly737Val) n.403G>T c.8447G>T (p.Gly2816Val) c.8444G>T (p.Gly2815Val) c.8225G>T (p.Gly2742Val) c.6434G>T (p.Gly2145Val) c.5984G>T (p.Gly1995Val) c.5192G>T (p.Gly1731Val) c.8354G>T (p.Gly2785Val) | |
8 | g.60865297A>C | CA461105913 | CHD7 | n.1534A>C n.465A>C c.*1417A>C (n.*1417A>C) c.8358A>C (p.Gly2786=) c.2211A>C (p.Gly737=) n.404A>C c.8448A>C (p.Gly2816=) c.8445A>C (p.Gly2815=) c.8226A>C (p.Gly2742=) c.6435A>C (p.Gly2145=) c.5985A>C (p.Gly1995=) c.5193A>C (p.Gly1731=) c.8355A>C (p.Gly2785=) | |
8 | g.60865297A>G | CA461105914 | CHD7 | n.1534A>G n.465A>G c.*1417A>G (n.*1417A>G) c.8358A>G (p.Gly2786=) c.2211A>G (p.Gly737=) n.404A>G c.8448A>G (p.Gly2816=) c.8445A>G (p.Gly2815=) c.8226A>G (p.Gly2742=) c.6435A>G (p.Gly2145=) c.5985A>G (p.Gly1995=) c.5193A>G (p.Gly1731=) c.8355A>G (p.Gly2785=) | |
8 | g.60865297A>T | CA461105915 | CHD7 | n.1534A>T n.465A>T c.*1417A>T (n.*1417A>T) c.8358A>T (p.Gly2786=) c.2211A>T (p.Gly737=) n.404A>T c.8448A>T (p.Gly2816=) c.8445A>T (p.Gly2815=) c.8226A>T (p.Gly2742=) c.6435A>T (p.Gly2145=) c.5985A>T (p.Gly1995=) c.5193A>T (p.Gly1731=) c.8355A>T (p.Gly2785=) | |
8 | g.60865298G>A | CA4760995 | CHD7 | n.1535G>A n.466G>A c.*1418G>A (n.*1418G>A) c.8359G>A (p.Gly2787Ser) c.2212G>A (p.Gly738Ser) n.405G>A c.8449G>A (p.Gly2817Ser) c.8446G>A (p.Gly2816Ser) c.8227G>A (p.Gly2743Ser) c.6436G>A (p.Gly2146Ser) c.5986G>A (p.Gly1996Ser) c.5194G>A (p.Gly1732Ser) c.8356G>A (p.Gly2786Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865298G>C | CA371308656 | CHD7 | n.1535G>C n.466G>C c.*1418G>C (n.*1418G>C) c.8359G>C (p.Gly2787Arg) c.2212G>C (p.Gly738Arg) n.405G>C c.8449G>C (p.Gly2817Arg) c.8446G>C (p.Gly2816Arg) c.8227G>C (p.Gly2743Arg) c.6436G>C (p.Gly2146Arg) c.5986G>C (p.Gly1996Arg) c.5194G>C (p.Gly1732Arg) c.8356G>C (p.Gly2786Arg) | |
8 | g.60865298G= | CA1788129814 | CHD7 | n.1535G= n.466G= c.*1418G= (n.*1418G=) c.8359G= (p.Gly2787=) c.2212G= (p.Gly738=) n.405G= c.8449G= (p.Gly2817=) c.8446G= (p.Gly2816=) c.8227G= (p.Gly2743=) c.6436G= (p.Gly2146=) c.5986G= (p.Gly1996=) c.5194G= (p.Gly1732=) c.8356G= (p.Gly2786=) | |
8 | g.60865298G>T | CA371308659 | CHD7 | n.1535G>T n.466G>T c.*1418G>T (n.*1418G>T) c.8359G>T (p.Gly2787Cys) c.2212G>T (p.Gly738Cys) n.405G>T c.8449G>T (p.Gly2817Cys) c.8446G>T (p.Gly2816Cys) c.8227G>T (p.Gly2743Cys) c.6436G>T (p.Gly2146Cys) c.5986G>T (p.Gly1996Cys) c.5194G>T (p.Gly1732Cys) c.8356G>T (p.Gly2786Cys) | |
8 | g.60865299del | CA2573143276 | CHD7 | n.1536del n.467del c.*1419del (n.*1419del) c.8360del (p.Gly2787AlafsTer12) c.2213del (p.Gly738AlafsTer12) n.406del c.8450del (p.Gly2817AlafsTer12) c.8447del (p.Gly2816AlafsTer12) c.8228del (p.Gly2743AlafsTer12) c.6437del (p.Gly2146AlafsTer12) c.5987del (p.Gly1996AlafsTer12) c.5195del (p.Gly1732AlafsTer12) c.8357del (p.Gly2786AlafsTer12) | ClinVar dbSNP |
8 | g.60865299G>A | CA371308664 | CHD7 | n.1536G>A n.467G>A c.*1419G>A (n.*1419G>A) c.8360G>A (p.Gly2787Asp) c.2213G>A (p.Gly738Asp) n.406G>A c.8450G>A (p.Gly2817Asp) c.8447G>A (p.Gly2816Asp) c.8228G>A (p.Gly2743Asp) c.6437G>A (p.Gly2146Asp) c.5987G>A (p.Gly1996Asp) c.5195G>A (p.Gly1732Asp) c.8357G>A (p.Gly2786Asp) | gnomAD v4 |
8 | g.60865299G>C | CA371308667 | CHD7 | n.1536G>C n.467G>C c.*1419G>C (n.*1419G>C) c.8360G>C (p.Gly2787Ala) c.2213G>C (p.Gly738Ala) n.406G>C c.8450G>C (p.Gly2817Ala) c.8447G>C (p.Gly2816Ala) c.8228G>C (p.Gly2743Ala) c.6437G>C (p.Gly2146Ala) c.5987G>C (p.Gly1996Ala) c.5195G>C (p.Gly1732Ala) c.8357G>C (p.Gly2786Ala) | gnomAD v4 |
8 | g.60865299G>T | CA371308670 | CHD7 | n.1536G>T n.467G>T c.*1419G>T (n.*1419G>T) c.8360G>T (p.Gly2787Val) c.2213G>T (p.Gly738Val) n.406G>T c.8450G>T (p.Gly2817Val) c.8447G>T (p.Gly2816Val) c.8228G>T (p.Gly2743Val) c.6437G>T (p.Gly2146Val) c.5987G>T (p.Gly1996Val) c.5195G>T (p.Gly1732Val) c.8357G>T (p.Gly2786Val) | |
8 | g.60865300C>A | CA461105916 | CHD7 | n.1537C>A n.468C>A c.*1420C>A (n.*1420C>A) c.8361C>A (p.Gly2787=) c.2214C>A (p.Gly738=) n.407C>A c.8451C>A (p.Gly2817=) c.8448C>A (p.Gly2816=) c.8229C>A (p.Gly2743=) c.6438C>A (p.Gly2146=) c.5988C>A (p.Gly1996=) c.5196C>A (p.Gly1732=) c.8358C>A (p.Gly2786=) | gnomAD v4 |
8 | g.60865300C= | CA1788129822 | CHD7 | n.1537C= n.468C= c.*1420C= (n.*1420C=) c.8361C= (p.Gly2787=) c.2214C= (p.Gly738=) n.407C= c.8451C= (p.Gly2817=) c.8448C= (p.Gly2816=) c.8229C= (p.Gly2743=) c.6438C= (p.Gly2146=) c.5988C= (p.Gly1996=) c.5196C= (p.Gly1732=) c.8358C= (p.Gly2786=) | |
8 | g.60865300C>G | CA461105917 | CHD7 | n.1537C>G n.468C>G c.*1420C>G (n.*1420C>G) c.8361C>G (p.Gly2787=) c.2214C>G (p.Gly738=) n.407C>G c.8451C>G (p.Gly2817=) c.8448C>G (p.Gly2816=) c.8229C>G (p.Gly2743=) c.6438C>G (p.Gly2146=) c.5988C>G (p.Gly1996=) c.5196C>G (p.Gly1732=) c.8358C>G (p.Gly2786=) | gnomAD v4 |
8 | g.60865300C>T | CA4760996 | CHD7 | n.1537C>T n.468C>T c.*1420C>T (n.*1420C>T) c.8361C>T (p.Gly2787=) c.2214C>T (p.Gly738=) n.407C>T c.8451C>T (p.Gly2817=) c.8448C>T (p.Gly2816=) c.8229C>T (p.Gly2743=) c.6438C>T (p.Gly2146=) c.5988C>T (p.Gly1996=) c.5196C>T (p.Gly1732=) c.8358C>T (p.Gly2786=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865301G>A | CA4760997 | CHD7 | n.1538G>A n.469G>A c.*1421G>A (n.*1421G>A) c.8362G>A (p.Asp2788Asn) c.2215G>A (p.Asp739Asn) n.408G>A c.8452G>A (p.Asp2818Asn) c.8449G>A (p.Asp2817Asn) c.8230G>A (p.Asp2744Asn) c.6439G>A (p.Asp2147Asn) c.5989G>A (p.Asp1997Asn) c.5197G>A (p.Asp1733Asn) c.8359G>A (p.Asp2787Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865301G>C | CA371308681 | CHD7 | n.1538G>C n.469G>C c.*1421G>C (n.*1421G>C) c.8362G>C (p.Asp2788His) c.2215G>C (p.Asp739His) n.408G>C c.8452G>C (p.Asp2818His) c.8449G>C (p.Asp2817His) c.8230G>C (p.Asp2744His) c.6439G>C (p.Asp2147His) c.5989G>C (p.Asp1997His) c.5197G>C (p.Asp1733His) c.8359G>C (p.Asp2787His) | ClinVar dbSNP |
8 | g.60865301G= | CA1788129834 | CHD7 | n.1538G= n.469G= c.*1421G= (n.*1421G=) c.8362G= (p.Asp2788=) c.2215G= (p.Asp739=) n.408G= c.8452G= (p.Asp2818=) c.8449G= (p.Asp2817=) c.8230G= (p.Asp2744=) c.6439G= (p.Asp2147=) c.5989G= (p.Asp1997=) c.5197G= (p.Asp1733=) c.8359G= (p.Asp2787=) | |
8 | g.60865301G>T | CA371308677 | CHD7 | n.1538G>T n.469G>T c.*1421G>T (n.*1421G>T) c.8362G>T (p.Asp2788Tyr) c.2215G>T (p.Asp739Tyr) n.408G>T c.8452G>T (p.Asp2818Tyr) c.8449G>T (p.Asp2817Tyr) c.8230G>T (p.Asp2744Tyr) c.6439G>T (p.Asp2147Tyr) c.5989G>T (p.Asp1997Tyr) c.5197G>T (p.Asp1733Tyr) c.8359G>T (p.Asp2787Tyr) | gnomAD v4 |
8 | g.60865302A>C | CA371308691 | CHD7 | n.1539A>C n.470A>C c.*1422A>C (n.*1422A>C) c.8363A>C (p.Asp2788Ala) c.2216A>C (p.Asp739Ala) n.409A>C c.8453A>C (p.Asp2818Ala) c.8450A>C (p.Asp2817Ala) c.8231A>C (p.Asp2744Ala) c.6440A>C (p.Asp2147Ala) c.5990A>C (p.Asp1997Ala) c.5198A>C (p.Asp1733Ala) c.8360A>C (p.Asp2787Ala) | |
8 | g.60865302A>G | CA371308684 | CHD7 | n.1539A>G n.470A>G c.*1422A>G (n.*1422A>G) c.8363A>G (p.Asp2788Gly) c.2216A>G (p.Asp739Gly) n.409A>G c.8453A>G (p.Asp2818Gly) c.8450A>G (p.Asp2817Gly) c.8231A>G (p.Asp2744Gly) c.6440A>G (p.Asp2147Gly) c.5990A>G (p.Asp1997Gly) c.5198A>G (p.Asp1733Gly) c.8360A>G (p.Asp2787Gly) | |
8 | g.60865302A>T | CA371308688 | CHD7 | n.1539A>T n.470A>T c.*1422A>T (n.*1422A>T) c.8363A>T (p.Asp2788Val) c.2216A>T (p.Asp739Val) n.409A>T c.8453A>T (p.Asp2818Val) c.8450A>T (p.Asp2817Val) c.8231A>T (p.Asp2744Val) c.6440A>T (p.Asp2147Val) c.5990A>T (p.Asp1997Val) c.5198A>T (p.Asp1733Val) c.8360A>T (p.Asp2787Val) | |
8 | g.60865303T>A | CA371308694 | CHD7 | n.1540T>A n.471T>A c.*1423T>A (n.*1423T>A) c.8364T>A (p.Asp2788Glu) c.2217T>A (p.Asp739Glu) n.410T>A c.8454T>A (p.Asp2818Glu) c.8451T>A (p.Asp2817Glu) c.8232T>A (p.Asp2744Glu) c.6441T>A (p.Asp2147Glu) c.5991T>A (p.Asp1997Glu) c.5199T>A (p.Asp1733Glu) c.8361T>A (p.Asp2787Glu) | |
8 | g.60865303T>C | CA10631391 | CHD7 | n.1540T>C n.471T>C c.*1423T>C (n.*1423T>C) c.8364T>C (p.Asp2788=) c.2217T>C (p.Asp739=) n.410T>C c.8454T>C (p.Asp2818=) c.8451T>C (p.Asp2817=) c.8232T>C (p.Asp2744=) c.6441T>C (p.Asp2147=) c.5991T>C (p.Asp1997=) c.5199T>C (p.Asp1733=) c.8361T>C (p.Asp2787=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865303T>G | CA371308701 | CHD7 | n.1540T>G n.471T>G c.*1423T>G (n.*1423T>G) c.8364T>G (p.Asp2788Glu) c.2217T>G (p.Asp739Glu) n.410T>G c.8454T>G (p.Asp2818Glu) c.8451T>G (p.Asp2817Glu) c.8232T>G (p.Asp2744Glu) c.6441T>G (p.Asp2147Glu) c.5991T>G (p.Asp1997Glu) c.5199T>G (p.Asp1733Glu) c.8361T>G (p.Asp2787Glu) | |
8 | g.60865303T= | CA1788129850 | CHD7 | n.1540T= n.471T= c.*1423T= (n.*1423T=) c.8364T= (p.Asp2788=) c.2217T= (p.Asp739=) n.410T= c.8454T= (p.Asp2818=) c.8451T= (p.Asp2817=) c.8232T= (p.Asp2744=) c.6441T= (p.Asp2147=) c.5991T= (p.Asp1997=) c.5199T= (p.Asp1733=) c.8361T= (p.Asp2787=) | |
8 | g.60865304G>A | CA4760998 | CHD7 | n.1541G>A n.472G>A c.*1424G>A (n.*1424G>A) c.8365G>A (p.Ala2789Thr) c.2218G>A (p.Ala740Thr) n.411G>A c.8455G>A (p.Ala2819Thr) c.8452G>A (p.Ala2818Thr) c.8233G>A (p.Ala2745Thr) c.6442G>A (p.Ala2148Thr) c.5992G>A (p.Ala1998Thr) c.5200G>A (p.Ala1734Thr) c.8362G>A (p.Ala2788Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865304G>C | CA371308713 | CHD7 | n.1541G>C n.472G>C c.*1424G>C (n.*1424G>C) c.8365G>C (p.Ala2789Pro) c.2218G>C (p.Ala740Pro) n.411G>C c.8455G>C (p.Ala2819Pro) c.8452G>C (p.Ala2818Pro) c.8233G>C (p.Ala2745Pro) c.6442G>C (p.Ala2148Pro) c.5992G>C (p.Ala1998Pro) c.5200G>C (p.Ala1734Pro) c.8362G>C (p.Ala2788Pro) | |
8 | g.60865304G= | CA1788129859 | CHD7 | n.1541G= n.472G= c.*1424G= (n.*1424G=) c.8365G= (p.Ala2789=) c.2218G= (p.Ala740=) n.411G= c.8455G= (p.Ala2819=) c.8452G= (p.Ala2818=) c.8233G= (p.Ala2745=) c.6442G= (p.Ala2148=) c.5992G= (p.Ala1998=) c.5200G= (p.Ala1734=) c.8362G= (p.Ala2788=) | |
8 | g.60865304G>T | CA371308717 | CHD7 | n.1541G>T n.472G>T c.*1424G>T (n.*1424G>T) c.8365G>T (p.Ala2789Ser) c.2218G>T (p.Ala740Ser) n.411G>T c.8455G>T (p.Ala2819Ser) c.8452G>T (p.Ala2818Ser) c.8233G>T (p.Ala2745Ser) c.6442G>T (p.Ala2148Ser) c.5992G>T (p.Ala1998Ser) c.5200G>T (p.Ala1734Ser) c.8362G>T (p.Ala2788Ser) | |
8 | g.60865305C>A | CA371308721 | CHD7 | n.1542C>A n.473C>A c.*1425C>A (n.*1425C>A) c.8366C>A (p.Ala2789Glu) c.2219C>A (p.Ala740Glu) n.412C>A c.8456C>A (p.Ala2819Glu) c.8453C>A (p.Ala2818Glu) c.8234C>A (p.Ala2745Glu) c.6443C>A (p.Ala2148Glu) c.5993C>A (p.Ala1998Glu) c.5201C>A (p.Ala1734Glu) c.8363C>A (p.Ala2788Glu) | |
8 | g.60865305C= | CA1788129869 | CHD7 | n.1542C= n.473C= c.*1425C= (n.*1425C=) c.8366C= (p.Ala2789=) c.2219C= (p.Ala740=) n.412C= c.8456C= (p.Ala2819=) c.8453C= (p.Ala2818=) c.8234C= (p.Ala2745=) c.6443C= (p.Ala2148=) c.5993C= (p.Ala1998=) c.5201C= (p.Ala1734=) c.8363C= (p.Ala2788=) | |
8 | g.60865305C>G | CA4760999 | CHD7 | n.1542C>G n.473C>G c.*1425C>G (n.*1425C>G) c.8366C>G (p.Ala2789Gly) c.2219C>G (p.Ala740Gly) n.412C>G c.8456C>G (p.Ala2819Gly) c.8453C>G (p.Ala2818Gly) c.8234C>G (p.Ala2745Gly) c.6443C>G (p.Ala2148Gly) c.5993C>G (p.Ala1998Gly) c.5201C>G (p.Ala1734Gly) c.8363C>G (p.Ala2788Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865305C>T | CA244940 | CHD7 | n.1542C>T n.473C>T c.*1425C>T (n.*1425C>T) c.8366C>T (p.Ala2789Val) c.2219C>T (p.Ala740Val) n.412C>T c.8456C>T (p.Ala2819Val) c.8453C>T (p.Ala2818Val) c.8234C>T (p.Ala2745Val) c.6443C>T (p.Ala2148Val) c.5993C>T (p.Ala1998Val) c.5201C>T (p.Ala1734Val) c.8363C>T (p.Ala2788Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865306G>A | CA4761000 | CHD7 | n.1543G>A n.474G>A c.*1426G>A (n.*1426G>A) c.8367G>A (p.Ala2789=) c.2220G>A (p.Ala740=) n.413G>A c.8457G>A (p.Ala2819=) c.8454G>A (p.Ala2818=) c.8235G>A (p.Ala2745=) c.6444G>A (p.Ala2148=) c.5994G>A (p.Ala1998=) c.5202G>A (p.Ala1734=) c.8364G>A (p.Ala2788=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865306G>C | CA461105918 | CHD7 | n.1543G>C n.474G>C c.*1426G>C (n.*1426G>C) c.8367G>C (p.Ala2789=) c.2220G>C (p.Ala740=) n.413G>C c.8457G>C (p.Ala2819=) c.8454G>C (p.Ala2818=) c.8235G>C (p.Ala2745=) c.6444G>C (p.Ala2148=) c.5994G>C (p.Ala1998=) c.5202G>C (p.Ala1734=) c.8364G>C (p.Ala2788=) | |
8 | g.60865306G= | CA1788129878 | CHD7 | n.1543G= n.474G= c.*1426G= (n.*1426G=) c.8367G= (p.Ala2789=) c.2220G= (p.Ala740=) n.413G= c.8457G= (p.Ala2819=) c.8454G= (p.Ala2818=) c.8235G= (p.Ala2745=) c.6444G= (p.Ala2148=) c.5994G= (p.Ala1998=) c.5202G= (p.Ala1734=) c.8364G= (p.Ala2788=) | |
8 | g.60865306G>T | CA461105919 | CHD7 | n.1543G>T n.474G>T c.*1426G>T (n.*1426G>T) c.8367G>T (p.Ala2789=) c.2220G>T (p.Ala740=) n.413G>T c.8457G>T (p.Ala2819=) c.8454G>T (p.Ala2818=) c.8235G>T (p.Ala2745=) c.6444G>T (p.Ala2148=) c.5994G>T (p.Ala1998=) c.5202G>T (p.Ala1734=) c.8364G>T (p.Ala2788=) | gnomAD v4 |
8 | g.60865307A>C | CA371308740 | CHD7 | n.1544A>C n.475A>C c.*1427A>C (n.*1427A>C) c.8368A>C (p.Lys2790Gln) c.2221A>C (p.Lys741Gln) n.414A>C c.8458A>C (p.Lys2820Gln) c.8455A>C (p.Lys2819Gln) c.8236A>C (p.Lys2746Gln) c.6445A>C (p.Lys2149Gln) c.5995A>C (p.Lys1999Gln) c.5203A>C (p.Lys1735Gln) c.8365A>C (p.Lys2789Gln) | |
8 | g.60865307A>G | CA371308738 | CHD7 | n.1544A>G n.475A>G c.*1427A>G (n.*1427A>G) c.8368A>G (p.Lys2790Glu) c.2221A>G (p.Lys741Glu) n.414A>G c.8458A>G (p.Lys2820Glu) c.8455A>G (p.Lys2819Glu) c.8236A>G (p.Lys2746Glu) c.6445A>G (p.Lys2149Glu) c.5995A>G (p.Lys1999Glu) c.5203A>G (p.Lys1735Glu) c.8365A>G (p.Lys2789Glu) | gnomAD v4 |
8 | g.60865307A>T | CA371308734 | CHD7 | n.1544A>T n.475A>T c.*1427A>T (n.*1427A>T) c.8368A>T (p.Lys2790Ter) c.2221A>T (p.Lys741Ter) n.414A>T c.8458A>T (p.Lys2820Ter) c.8455A>T (p.Lys2819Ter) c.8236A>T (p.Lys2746Ter) c.6445A>T (p.Lys2149Ter) c.5995A>T (p.Lys1999Ter) c.5203A>T (p.Lys1735Ter) c.8365A>T (p.Lys2789Ter) | |
8 | g.60865308A>C | CA371308744 | CHD7 | n.1545A>C n.476A>C c.*1428A>C (n.*1428A>C) c.8369A>C (p.Lys2790Thr) c.2222A>C (p.Lys741Thr) n.415A>C c.8459A>C (p.Lys2820Thr) c.8456A>C (p.Lys2819Thr) c.8237A>C (p.Lys2746Thr) c.6446A>C (p.Lys2149Thr) c.5996A>C (p.Lys1999Thr) c.5204A>C (p.Lys1735Thr) c.8366A>C (p.Lys2789Thr) | |
8 | g.60865308A>G | CA371308758 | CHD7 | n.1545A>G n.476A>G c.*1428A>G (n.*1428A>G) c.8369A>G (p.Lys2790Arg) c.2222A>G (p.Lys741Arg) n.415A>G c.8459A>G (p.Lys2820Arg) c.8456A>G (p.Lys2819Arg) c.8237A>G (p.Lys2746Arg) c.6446A>G (p.Lys2149Arg) c.5996A>G (p.Lys1999Arg) c.5204A>G (p.Lys1735Arg) c.8366A>G (p.Lys2789Arg) | |
8 | g.60865308A>T | CA371308763 | CHD7 | n.1545A>T n.476A>T c.*1428A>T (n.*1428A>T) c.8369A>T (p.Lys2790Met) c.2222A>T (p.Lys741Met) n.415A>T c.8459A>T (p.Lys2820Met) c.8456A>T (p.Lys2819Met) c.8237A>T (p.Lys2746Met) c.6446A>T (p.Lys2149Met) c.5996A>T (p.Lys1999Met) c.5204A>T (p.Lys1735Met) c.8366A>T (p.Lys2789Met) | |
8 | g.60865309G>A | CA461105920 | CHD7 | n.1546G>A n.477G>A c.*1429G>A (n.*1429G>A) c.8370G>A (p.Lys2790=) c.2223G>A (p.Lys741=) n.416G>A c.8460G>A (p.Lys2820=) c.8457G>A (p.Lys2819=) c.8238G>A (p.Lys2746=) c.6447G>A (p.Lys2149=) c.5997G>A (p.Lys1999=) c.5205G>A (p.Lys1735=) c.8367G>A (p.Lys2789=) | |
8 | g.60865309G>C | CA371308767 | CHD7 | n.1546G>C n.477G>C c.*1429G>C (n.*1429G>C) c.8370G>C (p.Lys2790Asn) c.2223G>C (p.Lys741Asn) n.416G>C c.8460G>C (p.Lys2820Asn) c.8457G>C (p.Lys2819Asn) c.8238G>C (p.Lys2746Asn) c.6447G>C (p.Lys2149Asn) c.5997G>C (p.Lys1999Asn) c.5205G>C (p.Lys1735Asn) c.8367G>C (p.Lys2789Asn) | |
8 | g.60865309G>T | CA371308770 | CHD7 | n.1546G>T n.477G>T c.*1429G>T (n.*1429G>T) c.8370G>T (p.Lys2790Asn) c.2223G>T (p.Lys741Asn) n.416G>T c.8460G>T (p.Lys2820Asn) c.8457G>T (p.Lys2819Asn) c.8238G>T (p.Lys2746Asn) c.6447G>T (p.Lys2149Asn) c.5997G>T (p.Lys1999Asn) c.5205G>T (p.Lys1735Asn) c.8367G>T (p.Lys2789Asn) | |
8 | g.60865310A= | CA1788129888 | CHD7 | n.1547A= n.478A= c.*1430A= (n.*1430A=) c.8371A= (p.Asn2791=) c.2224A= (p.Asn742=) n.417A= c.8461A= (p.Asn2821=) c.8458A= (p.Asn2820=) c.8239A= (p.Asn2747=) c.6448A= (p.Asn2150=) c.5998A= (p.Asn2000=) c.5206A= (p.Asn1736=) c.8368A= (p.Asn2790=) | |
8 | g.60865310A>C | CA371308780 | CHD7 | n.1547A>C n.478A>C c.*1430A>C (n.*1430A>C) c.8371A>C (p.Asn2791His) c.2224A>C (p.Asn742His) n.417A>C c.8461A>C (p.Asn2821His) c.8458A>C (p.Asn2820His) c.8239A>C (p.Asn2747His) c.6448A>C (p.Asn2150His) c.5998A>C (p.Asn2000His) c.5206A>C (p.Asn1736His) c.8368A>C (p.Asn2790His) | |
8 | g.60865310A>G | CA371308786 | CHD7 | n.1547A>G n.478A>G c.*1430A>G (n.*1430A>G) c.8371A>G (p.Asn2791Asp) c.2224A>G (p.Asn742Asp) n.417A>G c.8461A>G (p.Asn2821Asp) c.8458A>G (p.Asn2820Asp) c.8239A>G (p.Asn2747Asp) c.6448A>G (p.Asn2150Asp) c.5998A>G (p.Asn2000Asp) c.5206A>G (p.Asn1736Asp) c.8368A>G (p.Asn2790Asp) | gnomAD v4 |
8 | g.60865310A>T | CA371308788 | CHD7 | n.1547A>T n.478A>T c.*1430A>T (n.*1430A>T) c.8371A>T (p.Asn2791Tyr) c.2224A>T (p.Asn742Tyr) n.417A>T c.8461A>T (p.Asn2821Tyr) c.8458A>T (p.Asn2820Tyr) c.8239A>T (p.Asn2747Tyr) c.6448A>T (p.Asn2150Tyr) c.5998A>T (p.Asn2000Tyr) c.5206A>T (p.Asn1736Tyr) c.8368A>T (p.Asn2790Tyr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865311A= | CA1788129899 | CHD7 | n.1548A= n.479A= c.*1431A= (n.*1431A=) c.8372A= (p.Asn2791=) c.2225A= (p.Asn742=) n.418A= c.8462A= (p.Asn2821=) c.8459A= (p.Asn2820=) c.8240A= (p.Asn2747=) c.6449A= (p.Asn2150=) c.5999A= (p.Asn2000=) c.5207A= (p.Asn1736=) c.8369A= (p.Asn2790=) | |
8 | g.60865311A>C | CA371308794 | CHD7 | n.1548A>C n.479A>C c.*1431A>C (n.*1431A>C) c.8372A>C (p.Asn2791Thr) c.2225A>C (p.Asn742Thr) n.418A>C c.8462A>C (p.Asn2821Thr) c.8459A>C (p.Asn2820Thr) c.8240A>C (p.Asn2747Thr) c.6449A>C (p.Asn2150Thr) c.5999A>C (p.Asn2000Thr) c.5207A>C (p.Asn1736Thr) c.8369A>C (p.Asn2790Thr) | dbSNP |
8 | g.60865311A>G | CA371308801 | CHD7 | n.1548A>G n.479A>G c.*1431A>G (n.*1431A>G) c.8372A>G (p.Asn2791Ser) c.2225A>G (p.Asn742Ser) n.418A>G c.8462A>G (p.Asn2821Ser) c.8459A>G (p.Asn2820Ser) c.8240A>G (p.Asn2747Ser) c.6449A>G (p.Asn2150Ser) c.5999A>G (p.Asn2000Ser) c.5207A>G (p.Asn1736Ser) c.8369A>G (p.Asn2790Ser) | dbSNP |
8 | g.60865311A>T | CA371308804 | CHD7 | n.1548A>T n.479A>T c.*1431A>T (n.*1431A>T) c.8372A>T (p.Asn2791Ile) c.2225A>T (p.Asn742Ile) n.418A>T c.8462A>T (p.Asn2821Ile) c.8459A>T (p.Asn2820Ile) c.8240A>T (p.Asn2747Ile) c.6449A>T (p.Asn2150Ile) c.5999A>T (p.Asn2000Ile) c.5207A>T (p.Asn1736Ile) c.8369A>T (p.Asn2790Ile) | |
8 | g.60865312C>A | CA371308810 | CHD7 | n.1549C>A n.480C>A c.*1432C>A (n.*1432C>A) c.8373C>A (p.Asn2791Lys) c.2226C>A (p.Asn742Lys) n.419C>A c.8463C>A (p.Asn2821Lys) c.8460C>A (p.Asn2820Lys) c.8241C>A (p.Asn2747Lys) c.6450C>A (p.Asn2150Lys) c.6000C>A (p.Asn2000Lys) c.5208C>A (p.Asn1736Lys) c.8370C>A (p.Asn2790Lys) | |
8 | g.60865312C>G | CA371308812 | CHD7 | n.1549C>G n.480C>G c.*1432C>G (n.*1432C>G) c.8373C>G (p.Asn2791Lys) c.2226C>G (p.Asn742Lys) n.419C>G c.8463C>G (p.Asn2821Lys) c.8460C>G (p.Asn2820Lys) c.8241C>G (p.Asn2747Lys) c.6450C>G (p.Asn2150Lys) c.6000C>G (p.Asn2000Lys) c.5208C>G (p.Asn1736Lys) c.8370C>G (p.Asn2790Lys) | |
8 | g.60865312C>T | CA461105921 | CHD7 | n.1549C>T n.480C>T c.*1432C>T (n.*1432C>T) c.8373C>T (p.Asn2791=) c.2226C>T (p.Asn742=) n.419C>T c.8463C>T (p.Asn2821=) c.8460C>T (p.Asn2820=) c.8241C>T (p.Asn2747=) c.6450C>T (p.Asn2150=) c.6000C>T (p.Asn2000=) c.5208C>T (p.Asn1736=) c.8370C>T (p.Asn2790=) | |
8 | g.60865313C>A | CA371308827 | CHD7 | n.1550C>A n.481C>A c.*1433C>A (n.*1433C>A) c.8374C>A (p.Pro2792Thr) c.2227C>A (p.Pro743Thr) n.420C>A c.8464C>A (p.Pro2822Thr) c.8461C>A (p.Pro2821Thr) c.8242C>A (p.Pro2748Thr) c.6451C>A (p.Pro2151Thr) c.6001C>A (p.Pro2001Thr) c.5209C>A (p.Pro1737Thr) c.8371C>A (p.Pro2791Thr) | |
8 | g.60865313C>G | CA371308821 | CHD7 | n.1550C>G n.481C>G c.*1433C>G (n.*1433C>G) c.8374C>G (p.Pro2792Ala) c.2227C>G (p.Pro743Ala) n.420C>G c.8464C>G (p.Pro2822Ala) c.8461C>G (p.Pro2821Ala) c.8242C>G (p.Pro2748Ala) c.6451C>G (p.Pro2151Ala) c.6001C>G (p.Pro2001Ala) c.5209C>G (p.Pro1737Ala) c.8371C>G (p.Pro2791Ala) | |
8 | g.60865313C>T | CA371308817 | CHD7 | n.1550C>T n.481C>T c.*1433C>T (n.*1433C>T) c.8374C>T (p.Pro2792Ser) c.2227C>T (p.Pro743Ser) n.420C>T c.8464C>T (p.Pro2822Ser) c.8461C>T (p.Pro2821Ser) c.8242C>T (p.Pro2748Ser) c.6451C>T (p.Pro2151Ser) c.6001C>T (p.Pro2001Ser) c.5209C>T (p.Pro1737Ser) c.8371C>T (p.Pro2791Ser) | |
8 | g.60865314C>A | CA371308832 | CHD7 | n.1551C>A n.482C>A c.*1434C>A (n.*1434C>A) c.8375C>A (p.Pro2792His) c.2228C>A (p.Pro743His) n.421C>A c.8465C>A (p.Pro2822His) c.8462C>A (p.Pro2821His) c.8243C>A (p.Pro2748His) c.6452C>A (p.Pro2151His) c.6002C>A (p.Pro2001His) c.5210C>A (p.Pro1737His) c.8372C>A (p.Pro2791His) | |
8 | g.60865314C= | CA1788129909 | CHD7 | n.1551C= n.482C= c.*1434C= (n.*1434C=) c.8375C= (p.Pro2792=) c.2228C= (p.Pro743=) n.421C= c.8465C= (p.Pro2822=) c.8462C= (p.Pro2821=) c.8243C= (p.Pro2748=) c.6452C= (p.Pro2151=) c.6002C= (p.Pro2001=) c.5210C= (p.Pro1737=) c.8372C= (p.Pro2791=) | |
8 | g.60865314C>G | CA371308829 | CHD7 | n.1551C>G n.482C>G c.*1434C>G (n.*1434C>G) c.8375C>G (p.Pro2792Arg) c.2228C>G (p.Pro743Arg) n.421C>G c.8465C>G (p.Pro2822Arg) c.8462C>G (p.Pro2821Arg) c.8243C>G (p.Pro2748Arg) c.6452C>G (p.Pro2151Arg) c.6002C>G (p.Pro2001Arg) c.5210C>G (p.Pro1737Arg) c.8372C>G (p.Pro2791Arg) | dbSNP |
8 | g.60865314C>T | CA371308830 | CHD7 | n.1551C>T n.482C>T c.*1434C>T (n.*1434C>T) c.8375C>T (p.Pro2792Leu) c.2228C>T (p.Pro743Leu) n.421C>T c.8465C>T (p.Pro2822Leu) c.8462C>T (p.Pro2821Leu) c.8243C>T (p.Pro2748Leu) c.6452C>T (p.Pro2151Leu) c.6002C>T (p.Pro2001Leu) c.5210C>T (p.Pro1737Leu) c.8372C>T (p.Pro2791Leu) | |
8 | g.60865315T>A | CA461105924 | CHD7 | n.1552T>A n.483T>A c.*1435T>A (n.*1435T>A) c.8376T>A (p.Pro2792=) c.2229T>A (p.Pro743=) n.422T>A c.8466T>A (p.Pro2822=) c.8463T>A (p.Pro2821=) c.8244T>A (p.Pro2748=) c.6453T>A (p.Pro2151=) c.6003T>A (p.Pro2001=) c.5211T>A (p.Pro1737=) c.8373T>A (p.Pro2791=) | |
8 | g.60865315T>C | CA461105923 | CHD7 | n.1552T>C n.483T>C c.*1435T>C (n.*1435T>C) c.8376T>C (p.Pro2792=) c.2229T>C (p.Pro743=) n.422T>C c.8466T>C (p.Pro2822=) c.8463T>C (p.Pro2821=) c.8244T>C (p.Pro2748=) c.6453T>C (p.Pro2151=) c.6003T>C (p.Pro2001=) c.5211T>C (p.Pro1737=) c.8373T>C (p.Pro2791=) | |
8 | g.60865315T>G | CA461105922 | CHD7 | n.1552T>G n.483T>G c.*1435T>G (n.*1435T>G) c.8376T>G (p.Pro2792=) c.2229T>G (p.Pro743=) n.422T>G c.8466T>G (p.Pro2822=) c.8463T>G (p.Pro2821=) c.8244T>G (p.Pro2748=) c.6453T>G (p.Pro2151=) c.6003T>G (p.Pro2001=) c.5211T>G (p.Pro1737=) c.8373T>G (p.Pro2791=) | |
8 | g.60865316G>A | CA371308835 | CHD7 | n.1553G>A n.484G>A c.*1436G>A (n.*1436G>A) c.8377G>A (p.Ala2793Thr) c.2230G>A (p.Ala744Thr) n.423G>A c.8467G>A (p.Ala2823Thr) c.8464G>A (p.Ala2822Thr) c.8245G>A (p.Ala2749Thr) c.6454G>A (p.Ala2152Thr) c.6004G>A (p.Ala2002Thr) c.5212G>A (p.Ala1738Thr) c.8374G>A (p.Ala2792Thr) | dbSNP gnomAD v2 |
8 | g.60865316G>C | CA371308837 | CHD7 | n.1553G>C n.484G>C c.*1436G>C (n.*1436G>C) c.8377G>C (p.Ala2793Pro) c.2230G>C (p.Ala744Pro) n.423G>C c.8467G>C (p.Ala2823Pro) c.8464G>C (p.Ala2822Pro) c.8245G>C (p.Ala2749Pro) c.6454G>C (p.Ala2152Pro) c.6004G>C (p.Ala2002Pro) c.5212G>C (p.Ala1738Pro) c.8374G>C (p.Ala2792Pro) | |
8 | g.60865316G= | CA1788129917 | CHD7 | n.1553G= n.484G= c.*1436G= (n.*1436G=) c.8377G= (p.Ala2793=) c.2230G= (p.Ala744=) n.423G= c.8467G= (p.Ala2823=) c.8464G= (p.Ala2822=) c.8245G= (p.Ala2749=) c.6454G= (p.Ala2152=) c.6004G= (p.Ala2002=) c.5212G= (p.Ala1738=) c.8374G= (p.Ala2792=) | |
8 | g.60865316G>T | CA371308839 | CHD7 | n.1553G>T n.484G>T c.*1436G>T (n.*1436G>T) c.8377G>T (p.Ala2793Ser) c.2230G>T (p.Ala744Ser) n.423G>T c.8467G>T (p.Ala2823Ser) c.8464G>T (p.Ala2822Ser) c.8245G>T (p.Ala2749Ser) c.6454G>T (p.Ala2152Ser) c.6004G>T (p.Ala2002Ser) c.5212G>T (p.Ala1738Ser) c.8374G>T (p.Ala2792Ser) | |
8 | g.60865317C>A | CA371308842 | CHD7 | n.1554C>A n.485C>A c.*1437C>A (n.*1437C>A) c.8378C>A (p.Ala2793Asp) c.2231C>A (p.Ala744Asp) n.424C>A c.8468C>A (p.Ala2823Asp) c.8465C>A (p.Ala2822Asp) c.8246C>A (p.Ala2749Asp) c.6455C>A (p.Ala2152Asp) c.6005C>A (p.Ala2002Asp) c.5213C>A (p.Ala1738Asp) c.8375C>A (p.Ala2792Asp) | |
8 | g.60865317C= | CA1788129934 | CHD7 | n.1554C= n.485C= c.*1437C= (n.*1437C=) c.8378C= (p.Ala2793=) c.2231C= (p.Ala744=) n.424C= c.8468C= (p.Ala2823=) c.8465C= (p.Ala2822=) c.8246C= (p.Ala2749=) c.6455C= (p.Ala2152=) c.6005C= (p.Ala2002=) c.5213C= (p.Ala1738=) c.8375C= (p.Ala2792=) | |
8 | g.60865317C>G | CA177329387 | CHD7 | n.1554C>G n.485C>G c.*1437C>G (n.*1437C>G) c.8378C>G (p.Ala2793Gly) c.2231C>G (p.Ala744Gly) n.424C>G c.8468C>G (p.Ala2823Gly) c.8465C>G (p.Ala2822Gly) c.8246C>G (p.Ala2749Gly) c.6455C>G (p.Ala2152Gly) c.6005C>G (p.Ala2002Gly) c.5213C>G (p.Ala1738Gly) c.8375C>G (p.Ala2792Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865317C>T | CA371308846 | CHD7 | n.1554C>T n.485C>T c.*1437C>T (n.*1437C>T) c.8378C>T (p.Ala2793Val) c.2231C>T (p.Ala744Val) n.424C>T c.8468C>T (p.Ala2823Val) c.8465C>T (p.Ala2822Val) c.8246C>T (p.Ala2749Val) c.6455C>T (p.Ala2152Val) c.6005C>T (p.Ala2002Val) c.5213C>T (p.Ala1738Val) c.8375C>T (p.Ala2792Val) | dbSNP gnomAD v4 |
8 | g.60865318T>A | CA461105925 | CHD7 | n.1555T>A n.486T>A c.*1438T>A (n.*1438T>A) c.8379T>A (p.Ala2793=) c.2232T>A (p.Ala744=) n.425T>A c.8469T>A (p.Ala2823=) c.8466T>A (p.Ala2822=) c.8247T>A (p.Ala2749=) c.6456T>A (p.Ala2152=) c.6006T>A (p.Ala2002=) c.5214T>A (p.Ala1738=) c.8376T>A (p.Ala2792=) | |
8 | g.60865318T>C | CA461105926 | CHD7 | n.1555T>C n.486T>C c.*1438T>C (n.*1438T>C) c.8379T>C (p.Ala2793=) c.2232T>C (p.Ala744=) n.425T>C c.8469T>C (p.Ala2823=) c.8466T>C (p.Ala2822=) c.8247T>C (p.Ala2749=) c.6456T>C (p.Ala2152=) c.6006T>C (p.Ala2002=) c.5214T>C (p.Ala1738=) c.8376T>C (p.Ala2792=) | |
8 | g.60865318T>G | CA461105927 | CHD7 | n.1555T>G n.486T>G c.*1438T>G (n.*1438T>G) c.8379T>G (p.Ala2793=) c.2232T>G (p.Ala744=) n.425T>G c.8469T>G (p.Ala2823=) c.8466T>G (p.Ala2822=) c.8247T>G (p.Ala2749=) c.6456T>G (p.Ala2152=) c.6006T>G (p.Ala2002=) c.5214T>G (p.Ala1738=) c.8376T>G (p.Ala2792=) | gnomAD v4 |
8 | g.60865319G>A | CA371308849 | CHD7 | n.1556G>A n.487G>A c.*1439G>A (n.*1439G>A) c.8380G>A (p.Ala2794Thr) c.2233G>A (p.Ala745Thr) n.426G>A c.8470G>A (p.Ala2824Thr) c.8467G>A (p.Ala2823Thr) c.8248G>A (p.Ala2750Thr) c.6457G>A (p.Ala2153Thr) c.6007G>A (p.Ala2003Thr) c.5215G>A (p.Ala1739Thr) c.8377G>A (p.Ala2793Thr) | |
8 | g.60865319G>C | CA371308850 | CHD7 | n.1556G>C n.487G>C c.*1439G>C (n.*1439G>C) c.8380G>C (p.Ala2794Pro) c.2233G>C (p.Ala745Pro) n.426G>C c.8470G>C (p.Ala2824Pro) c.8467G>C (p.Ala2823Pro) c.8248G>C (p.Ala2750Pro) c.6457G>C (p.Ala2153Pro) c.6007G>C (p.Ala2003Pro) c.5215G>C (p.Ala1739Pro) c.8377G>C (p.Ala2793Pro) | |
8 | g.60865319G= | CA1788129944 | CHD7 | n.1556G= n.487G= c.*1439G= (n.*1439G=) c.8380G= (p.Ala2794=) c.2233G= (p.Ala745=) n.426G= c.8470G= (p.Ala2824=) c.8467G= (p.Ala2823=) c.8248G= (p.Ala2750=) c.6457G= (p.Ala2153=) c.6007G= (p.Ala2003=) c.5215G= (p.Ala1739=) c.8377G= (p.Ala2793=) | |
8 | g.60865319G>T | CA4761001 | CHD7 | n.1556G>T n.487G>T c.*1439G>T (n.*1439G>T) c.8380G>T (p.Ala2794Ser) c.2233G>T (p.Ala745Ser) n.426G>T c.8470G>T (p.Ala2824Ser) c.8467G>T (p.Ala2823Ser) c.8248G>T (p.Ala2750Ser) c.6457G>T (p.Ala2153Ser) c.6007G>T (p.Ala2003Ser) c.5215G>T (p.Ala1739Ser) c.8377G>T (p.Ala2793Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865320C>A | CA371308853 | CHD7 | n.1557C>A n.488C>A c.*1440C>A (n.*1440C>A) c.8381C>A (p.Ala2794Asp) c.2234C>A (p.Ala745Asp) n.427C>A c.8471C>A (p.Ala2824Asp) c.8468C>A (p.Ala2823Asp) c.8249C>A (p.Ala2750Asp) c.6458C>A (p.Ala2153Asp) c.6008C>A (p.Ala2003Asp) c.5216C>A (p.Ala1739Asp) c.8378C>A (p.Ala2793Asp) | |
8 | g.60865320C= | CA1788129949 | CHD7 | n.1557C= n.488C= c.*1440C= (n.*1440C=) c.8381C= (p.Ala2794=) c.2234C= (p.Ala745=) n.427C= c.8471C= (p.Ala2824=) c.8468C= (p.Ala2823=) c.8249C= (p.Ala2750=) c.6458C= (p.Ala2153=) c.6008C= (p.Ala2003=) c.5216C= (p.Ala1739=) c.8378C= (p.Ala2793=) | |
8 | g.60865320C>G | CA371308855 | CHD7 | n.1557C>G n.488C>G c.*1440C>G (n.*1440C>G) c.8381C>G (p.Ala2794Gly) c.2234C>G (p.Ala745Gly) n.427C>G c.8471C>G (p.Ala2824Gly) c.8468C>G (p.Ala2823Gly) c.8249C>G (p.Ala2750Gly) c.6458C>G (p.Ala2153Gly) c.6008C>G (p.Ala2003Gly) c.5216C>G (p.Ala1739Gly) c.8378C>G (p.Ala2793Gly) | |
8 | g.60865320C>T | CA371308857 | CHD7 | n.1557C>T n.488C>T c.*1440C>T (n.*1440C>T) c.8381C>T (p.Ala2794Val) c.2234C>T (p.Ala745Val) n.427C>T c.8471C>T (p.Ala2824Val) c.8468C>T (p.Ala2823Val) c.8249C>T (p.Ala2750Val) c.6458C>T (p.Ala2153Val) c.6008C>T (p.Ala2003Val) c.5216C>T (p.Ala1739Val) c.8378C>T (p.Ala2793Val) | dbSNP |
8 | g.60865321T>A | CA461105928 | CHD7 | n.1558T>A n.489T>A c.*1441T>A (n.*1441T>A) c.8382T>A (p.Ala2794=) c.2235T>A (p.Ala745=) n.428T>A c.8472T>A (p.Ala2824=) c.8469T>A (p.Ala2823=) c.8250T>A (p.Ala2750=) c.6459T>A (p.Ala2153=) c.6009T>A (p.Ala2003=) c.5217T>A (p.Ala1739=) c.8379T>A (p.Ala2793=) | COSMIC |
8 | g.60865321T>C | CA4761002 | CHD7 | n.1558T>C n.489T>C c.*1441T>C (n.*1441T>C) c.8382T>C (p.Ala2794=) c.2235T>C (p.Ala745=) n.428T>C c.8472T>C (p.Ala2824=) c.8469T>C (p.Ala2823=) c.8250T>C (p.Ala2750=) c.6459T>C (p.Ala2153=) c.6009T>C (p.Ala2003=) c.5217T>C (p.Ala1739=) c.8379T>C (p.Ala2793=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865321T>G | CA461105929 | CHD7 | n.1558T>G n.489T>G c.*1441T>G (n.*1441T>G) c.8382T>G (p.Ala2794=) c.2235T>G (p.Ala745=) n.428T>G c.8472T>G (p.Ala2824=) c.8469T>G (p.Ala2823=) c.8250T>G (p.Ala2750=) c.6459T>G (p.Ala2153=) c.6009T>G (p.Ala2003=) c.5217T>G (p.Ala1739=) c.8379T>G (p.Ala2793=) | |
8 | g.60865321T= | CA1788129955 | CHD7 | n.1558T= n.489T= c.*1441T= (n.*1441T=) c.8382T= (p.Ala2794=) c.2235T= (p.Ala745=) n.428T= c.8472T= (p.Ala2824=) c.8469T= (p.Ala2823=) c.8250T= (p.Ala2750=) c.6459T= (p.Ala2153=) c.6009T= (p.Ala2003=) c.5217T= (p.Ala1739=) c.8379T= (p.Ala2793=) | |
8 | g.60865322G>A | CA177329414 | CHD7 | n.1559G>A n.490G>A c.*1442G>A (n.*1442G>A) c.8383G>A (p.Val2795Met) c.2236G>A (p.Val746Met) n.429G>A c.8473G>A (p.Val2825Met) c.8470G>A (p.Val2824Met) c.8251G>A (p.Val2751Met) c.6460G>A (p.Val2154Met) c.6010G>A (p.Val2004Met) c.5218G>A (p.Val1740Met) c.8380G>A (p.Val2794Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865322G>C | CA177329415 | CHD7 | n.1559G>C n.490G>C c.*1442G>C (n.*1442G>C) c.8383G>C (p.Val2795Leu) c.2236G>C (p.Val746Leu) n.429G>C c.8473G>C (p.Val2825Leu) c.8470G>C (p.Val2824Leu) c.8251G>C (p.Val2751Leu) c.6460G>C (p.Val2154Leu) c.6010G>C (p.Val2004Leu) c.5218G>C (p.Val1740Leu) c.8380G>C (p.Val2794Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865322G= | CA1788129960 | CHD7 | n.1559G= n.490G= c.*1442G= (n.*1442G=) c.8383G= (p.Val2795=) c.2236G= (p.Val746=) n.429G= c.8473G= (p.Val2825=) c.8470G= (p.Val2824=) c.8251G= (p.Val2751=) c.6460G= (p.Val2154=) c.6010G= (p.Val2004=) c.5218G= (p.Val1740=) c.8380G= (p.Val2794=) | |
8 | g.60865322G>T | CA371308865 | CHD7 | n.1559G>T n.490G>T c.*1442G>T (n.*1442G>T) c.8383G>T (p.Val2795Leu) c.2236G>T (p.Val746Leu) n.429G>T c.8473G>T (p.Val2825Leu) c.8470G>T (p.Val2824Leu) c.8251G>T (p.Val2751Leu) c.6460G>T (p.Val2154Leu) c.6010G>T (p.Val2004Leu) c.5218G>T (p.Val1740Leu) c.8380G>T (p.Val2794Leu) | |
8 | g.60865323T>A | CA371308868 | CHD7 | n.1560T>A n.491T>A c.*1443T>A (n.*1443T>A) c.8384T>A (p.Val2795Glu) c.2237T>A (p.Val746Glu) n.430T>A c.8474T>A (p.Val2825Glu) c.8471T>A (p.Val2824Glu) c.8252T>A (p.Val2751Glu) c.6461T>A (p.Val2154Glu) c.6011T>A (p.Val2004Glu) c.5219T>A (p.Val1740Glu) c.8381T>A (p.Val2794Glu) | |
8 | g.60865323T>C | CA371308871 | CHD7 | n.1560T>C n.491T>C c.*1443T>C (n.*1443T>C) c.8384T>C (p.Val2795Ala) c.2237T>C (p.Val746Ala) n.430T>C c.8474T>C (p.Val2825Ala) c.8471T>C (p.Val2824Ala) c.8252T>C (p.Val2751Ala) c.6461T>C (p.Val2154Ala) c.6011T>C (p.Val2004Ala) c.5219T>C (p.Val1740Ala) c.8381T>C (p.Val2794Ala) | |
8 | g.60865323T>G | CA371308873 | CHD7 | n.1560T>G n.491T>G c.*1443T>G (n.*1443T>G) c.8384T>G (p.Val2795Gly) c.2237T>G (p.Val746Gly) n.430T>G c.8474T>G (p.Val2825Gly) c.8471T>G (p.Val2824Gly) c.8252T>G (p.Val2751Gly) c.6461T>G (p.Val2154Gly) c.6011T>G (p.Val2004Gly) c.5219T>G (p.Val1740Gly) c.8381T>G (p.Val2794Gly) | |
8 | g.60865324G>A | CA461105930 | CHD7 | n.1561G>A n.492G>A c.*1444G>A (n.*1444G>A) c.8385G>A (p.Val2795=) c.2238G>A (p.Val746=) n.431G>A c.8475G>A (p.Val2825=) c.8472G>A (p.Val2824=) c.8253G>A (p.Val2751=) c.6462G>A (p.Val2154=) c.6012G>A (p.Val2004=) c.5220G>A (p.Val1740=) c.8382G>A (p.Val2794=) | gnomAD v4 |
8 | g.60865324G>C | CA461105931 | CHD7 | n.1561G>C n.492G>C c.*1444G>C (n.*1444G>C) c.8385G>C (p.Val2795=) c.2238G>C (p.Val746=) n.431G>C c.8475G>C (p.Val2825=) c.8472G>C (p.Val2824=) c.8253G>C (p.Val2751=) c.6462G>C (p.Val2154=) c.6012G>C (p.Val2004=) c.5220G>C (p.Val1740=) c.8382G>C (p.Val2794=) | |
8 | g.60865324G>T | CA461105932 | CHD7 | n.1561G>T n.492G>T c.*1444G>T (n.*1444G>T) c.8385G>T (p.Val2795=) c.2238G>T (p.Val746=) n.431G>T c.8475G>T (p.Val2825=) c.8472G>T (p.Val2824=) c.8253G>T (p.Val2751=) c.6462G>T (p.Val2154=) c.6012G>T (p.Val2004=) c.5220G>T (p.Val1740=) c.8382G>T (p.Val2794=) | |
8 | g.60865325C>A | CA371308876 | CHD7 | n.1562C>A n.493C>A c.*1445C>A (n.*1445C>A) c.8386C>A (p.Leu2796Met) c.2239C>A (p.Leu747Met) n.432C>A c.8476C>A (p.Leu2826Met) c.8473C>A (p.Leu2825Met) c.8254C>A (p.Leu2752Met) c.6463C>A (p.Leu2155Met) c.6013C>A (p.Leu2005Met) c.5221C>A (p.Leu1741Met) c.8383C>A (p.Leu2795Met) | gnomAD v4 |
8 | g.60865325C>G | CA371308884 | CHD7 | n.1562C>G n.493C>G c.*1445C>G (n.*1445C>G) c.8386C>G (p.Leu2796Val) c.2239C>G (p.Leu747Val) n.432C>G c.8476C>G (p.Leu2826Val) c.8473C>G (p.Leu2825Val) c.8254C>G (p.Leu2752Val) c.6463C>G (p.Leu2155Val) c.6013C>G (p.Leu2005Val) c.5221C>G (p.Leu1741Val) c.8383C>G (p.Leu2795Val) | |
8 | g.60865325C>T | CA461105933 | CHD7 | n.1562C>T n.493C>T c.*1445C>T (n.*1445C>T) c.8386C>T (p.Leu2796=) c.2239C>T (p.Leu747=) n.432C>T c.8476C>T (p.Leu2826=) c.8473C>T (p.Leu2825=) c.8254C>T (p.Leu2752=) c.6463C>T (p.Leu2155=) c.6013C>T (p.Leu2005=) c.5221C>T (p.Leu1741=) c.8383C>T (p.Leu2795=) | gnomAD v4 |
8 | g.60865326T>A | CA371308887 | CHD7 | n.1563T>A n.494T>A c.*1446T>A (n.*1446T>A) c.8387T>A (p.Leu2796Gln) c.2240T>A (p.Leu747Gln) n.433T>A c.8477T>A (p.Leu2826Gln) c.8474T>A (p.Leu2825Gln) c.8255T>A (p.Leu2752Gln) c.6464T>A (p.Leu2155Gln) c.6014T>A (p.Leu2005Gln) c.5222T>A (p.Leu1741Gln) c.8384T>A (p.Leu2795Gln) | COSMIC |
8 | g.60865326T>C | CA371308890 | CHD7 | n.1563T>C n.494T>C c.*1446T>C (n.*1446T>C) c.8387T>C (p.Leu2796Pro) c.2240T>C (p.Leu747Pro) n.433T>C c.8477T>C (p.Leu2826Pro) c.8474T>C (p.Leu2825Pro) c.8255T>C (p.Leu2752Pro) c.6464T>C (p.Leu2155Pro) c.6014T>C (p.Leu2005Pro) c.5222T>C (p.Leu1741Pro) c.8384T>C (p.Leu2795Pro) | |
8 | g.60865326T>G | CA371308892 | CHD7 | n.1563T>G n.494T>G c.*1446T>G (n.*1446T>G) c.8387T>G (p.Leu2796Arg) c.2240T>G (p.Leu747Arg) n.433T>G c.8477T>G (p.Leu2826Arg) c.8474T>G (p.Leu2825Arg) c.8255T>G (p.Leu2752Arg) c.6464T>G (p.Leu2155Arg) c.6014T>G (p.Leu2005Arg) c.5222T>G (p.Leu1741Arg) c.8384T>G (p.Leu2795Arg) | |
8 | g.60865327G>A | CA461105934 | CHD7 | n.1564G>A n.495G>A c.*1447G>A (n.*1447G>A) c.8388G>A (p.Leu2796=) c.2241G>A (p.Leu747=) n.434G>A c.8478G>A (p.Leu2826=) c.8475G>A (p.Leu2825=) c.8256G>A (p.Leu2752=) c.6465G>A (p.Leu2155=) c.6015G>A (p.Leu2005=) c.5223G>A (p.Leu1741=) c.8385G>A (p.Leu2795=) | |
8 | g.60865327G>C | CA461105935 | CHD7 | n.1564G>C n.495G>C c.*1447G>C (n.*1447G>C) c.8388G>C (p.Leu2796=) c.2241G>C (p.Leu747=) n.434G>C c.8478G>C (p.Leu2826=) c.8475G>C (p.Leu2825=) c.8256G>C (p.Leu2752=) c.6465G>C (p.Leu2155=) c.6015G>C (p.Leu2005=) c.5223G>C (p.Leu1741=) c.8385G>C (p.Leu2795=) | |
8 | g.60865327G>T | CA461105936 | CHD7 | n.1564G>T n.495G>T c.*1447G>T (n.*1447G>T) c.8388G>T (p.Leu2796=) c.2241G>T (p.Leu747=) n.434G>T c.8478G>T (p.Leu2826=) c.8475G>T (p.Leu2825=) c.8256G>T (p.Leu2752=) c.6465G>T (p.Leu2155=) c.6015G>T (p.Leu2005=) c.5223G>T (p.Leu1741=) c.8385G>T (p.Leu2795=) | gnomAD v4 |
8 | g.60865328C>A | CA371308897 | CHD7 | n.1565C>A n.496C>A c.*1448C>A (n.*1448C>A) c.8389C>A (p.Pro2797Thr) c.2242C>A (p.Pro748Thr) n.435C>A c.8479C>A (p.Pro2827Thr) c.8476C>A (p.Pro2826Thr) c.8257C>A (p.Pro2753Thr) c.6466C>A (p.Pro2156Thr) c.6016C>A (p.Pro2006Thr) c.5224C>A (p.Pro1742Thr) c.8386C>A (p.Pro2796Thr) | |
8 | g.60865328C= | CA1788129964 | CHD7 | n.1565C= n.496C= c.*1448C= (n.*1448C=) c.8389C= (p.Pro2797=) c.2242C= (p.Pro748=) n.435C= c.8479C= (p.Pro2827=) c.8476C= (p.Pro2826=) c.8257C= (p.Pro2753=) c.6466C= (p.Pro2156=) c.6016C= (p.Pro2006=) c.5224C= (p.Pro1742=) c.8386C= (p.Pro2796=) | |
8 | g.60865328C>G | CA371308904 | CHD7 | n.1565C>G n.496C>G c.*1448C>G (n.*1448C>G) c.8389C>G (p.Pro2797Ala) c.2242C>G (p.Pro748Ala) n.435C>G c.8479C>G (p.Pro2827Ala) c.8476C>G (p.Pro2826Ala) c.8257C>G (p.Pro2753Ala) c.6466C>G (p.Pro2156Ala) c.6016C>G (p.Pro2006Ala) c.5224C>G (p.Pro1742Ala) c.8386C>G (p.Pro2796Ala) | |
8 | g.60865328C>T | CA4761003 | CHD7 | n.1565C>T n.496C>T c.*1448C>T (n.*1448C>T) c.8389C>T (p.Pro2797Ser) c.2242C>T (p.Pro748Ser) n.435C>T c.8479C>T (p.Pro2827Ser) c.8476C>T (p.Pro2826Ser) c.8257C>T (p.Pro2753Ser) c.6466C>T (p.Pro2156Ser) c.6016C>T (p.Pro2006Ser) c.5224C>T (p.Pro1742Ser) c.8386C>T (p.Pro2796Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865329C>A | CA4761004 | CHD7 | n.1566C>A n.497C>A c.*1449C>A (n.*1449C>A) c.8390C>A (p.Pro2797His) c.2243C>A (p.Pro748His) n.436C>A c.8480C>A (p.Pro2827His) c.8477C>A (p.Pro2826His) c.8258C>A (p.Pro2753His) c.6467C>A (p.Pro2156His) c.6017C>A (p.Pro2006His) c.5225C>A (p.Pro1742His) c.8387C>A (p.Pro2796His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865329C= | CA1788129969 | CHD7 | n.1566C= n.497C= c.*1449C= (n.*1449C=) c.8390C= (p.Pro2797=) c.2243C= (p.Pro748=) n.436C= c.8480C= (p.Pro2827=) c.8477C= (p.Pro2826=) c.8258C= (p.Pro2753=) c.6467C= (p.Pro2156=) c.6017C= (p.Pro2006=) c.5225C= (p.Pro1742=) c.8387C= (p.Pro2796=) | |
8 | g.60865329C>G | CA371308915 | CHD7 | n.1566C>G n.497C>G c.*1449C>G (n.*1449C>G) c.8390C>G (p.Pro2797Arg) c.2243C>G (p.Pro748Arg) n.436C>G c.8480C>G (p.Pro2827Arg) c.8477C>G (p.Pro2826Arg) c.8258C>G (p.Pro2753Arg) c.6467C>G (p.Pro2156Arg) c.6017C>G (p.Pro2006Arg) c.5225C>G (p.Pro1742Arg) c.8387C>G (p.Pro2796Arg) | gnomAD v4 |
8 | g.60865329C>T | CA371308913 | CHD7 | n.1566C>T n.497C>T c.*1449C>T (n.*1449C>T) c.8390C>T (p.Pro2797Leu) c.2243C>T (p.Pro748Leu) n.436C>T c.8480C>T (p.Pro2827Leu) c.8477C>T (p.Pro2826Leu) c.8258C>T (p.Pro2753Leu) c.6467C>T (p.Pro2156Leu) c.6017C>T (p.Pro2006Leu) c.5225C>T (p.Pro1742Leu) c.8387C>T (p.Pro2796Leu) | gnomAD v4 |
8 | g.60865330C>A | CA461105939 | CHD7 | n.1567C>A n.498C>A c.*1450C>A (n.*1450C>A) c.8391C>A (p.Pro2797=) c.2244C>A (p.Pro748=) n.437C>A c.8481C>A (p.Pro2827=) c.8478C>A (p.Pro2826=) c.8259C>A (p.Pro2753=) c.6468C>A (p.Pro2156=) c.6018C>A (p.Pro2006=) c.5226C>A (p.Pro1742=) c.8388C>A (p.Pro2796=) | |
8 | g.60865330C= | CA1788129974 | CHD7 | n.1567C= n.498C= c.*1450C= (n.*1450C=) c.8391C= (p.Pro2797=) c.2244C= (p.Pro748=) n.437C= c.8481C= (p.Pro2827=) c.8478C= (p.Pro2826=) c.8259C= (p.Pro2753=) c.6468C= (p.Pro2156=) c.6018C= (p.Pro2006=) c.5226C= (p.Pro1742=) c.8388C= (p.Pro2796=) | |
8 | g.60865330C>G | CA461105938 | CHD7 | n.1567C>G n.498C>G c.*1450C>G (n.*1450C>G) c.8391C>G (p.Pro2797=) c.2244C>G (p.Pro748=) n.437C>G c.8481C>G (p.Pro2827=) c.8478C>G (p.Pro2826=) c.8259C>G (p.Pro2753=) c.6468C>G (p.Pro2156=) c.6018C>G (p.Pro2006=) c.5226C>G (p.Pro1742=) c.8388C>G (p.Pro2796=) | ClinVar |
8 | g.60865330C>T | CA461105937 | CHD7 | n.1567C>T n.498C>T c.*1450C>T (n.*1450C>T) c.8391C>T (p.Pro2797=) c.2244C>T (p.Pro748=) n.437C>T c.8481C>T (p.Pro2827=) c.8478C>T (p.Pro2826=) c.8259C>T (p.Pro2753=) c.6468C>T (p.Pro2156=) c.6018C>T (p.Pro2006=) c.5226C>T (p.Pro1742=) c.8388C>T (p.Pro2796=) | ClinVar dbSNP gnomAD v2 |
8 | g.60865331C>A | CA371308916 | CHD7 | n.1568C>A n.499C>A c.*1451C>A (n.*1451C>A) c.8392C>A (p.Leu2798Met) c.2245C>A (p.Leu749Met) n.438C>A c.8482C>A (p.Leu2828Met) c.8479C>A (p.Leu2827Met) c.8260C>A (p.Leu2754Met) c.6469C>A (p.Leu2157Met) c.6019C>A (p.Leu2007Met) c.5227C>A (p.Leu1743Met) c.8389C>A (p.Leu2797Met) | |
8 | g.60865331C= | CA1788129980 | CHD7 | n.1568C= n.499C= c.*1451C= (n.*1451C=) c.8392C= (p.Leu2798=) c.2245C= (p.Leu749=) n.438C= c.8482C= (p.Leu2828=) c.8479C= (p.Leu2827=) c.8260C= (p.Leu2754=) c.6469C= (p.Leu2157=) c.6019C= (p.Leu2007=) c.5227C= (p.Leu1743=) c.8389C= (p.Leu2797=) | |
8 | g.60865331C>G | CA371308917 | CHD7 | n.1568C>G n.499C>G c.*1451C>G (n.*1451C>G) c.8392C>G (p.Leu2798Val) c.2245C>G (p.Leu749Val) n.438C>G c.8482C>G (p.Leu2828Val) c.8479C>G (p.Leu2827Val) c.8260C>G (p.Leu2754Val) c.6469C>G (p.Leu2157Val) c.6019C>G (p.Leu2007Val) c.5227C>G (p.Leu1743Val) c.8389C>G (p.Leu2797Val) | |
8 | g.60865331C>T | CA461105940 | CHD7 | n.1568C>T n.499C>T c.*1451C>T (n.*1451C>T) c.8392C>T (p.Leu2798=) c.2245C>T (p.Leu749=) n.438C>T c.8482C>T (p.Leu2828=) c.8479C>T (p.Leu2827=) c.8260C>T (p.Leu2754=) c.6469C>T (p.Leu2157=) c.6019C>T (p.Leu2007=) c.5227C>T (p.Leu1743=) c.8389C>T (p.Leu2797=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865331_60865332delinsCT | CA1788129981 | CHD7 | n.1568_1569delinsCT n.499_500delinsCT c.*1451_*1452delinsCT (n.*1451_*1452delinsCT) c.8392_8393delinsCT (p.Leu2798=) c.2245_2246delinsCT (p.Leu749=) n.438_439delinsCT c.8482_8483delinsCT (p.Leu2828=) c.8479_8480delinsCT (p.Leu2827=) c.8260_8261delinsCT (p.Leu2754=) c.6469_6470delinsCT (p.Leu2157=) c.6019_6020delinsCT (p.Leu2007=) c.5227_5228delinsCT (p.Leu1743=) c.8389_8390delinsCT (p.Leu2797=) | |
8 | g.60865332del | CA1788129983 | CHD7 | n.1569del n.500del c.*1452del (n.*1452del) c.8393del (p.Leu2798ArgfsTer19) c.2246del (p.Leu749ArgfsTer19) n.439del c.8483del (p.Leu2828ArgfsTer19) c.8480del (p.Leu2827ArgfsTer19) c.8261del (p.Leu2754ArgfsTer19) c.6470del (p.Leu2157ArgfsTer19) c.6020del (p.Leu2007ArgfsTer19) c.5228del (p.Leu1743ArgfsTer19) c.8390del (p.Leu2797ArgfsTer19) | dbSNP |
8 | g.60865332T>A | CA371308918 | CHD7 | n.1569T>A n.500T>A c.*1452T>A (n.*1452T>A) c.8393T>A (p.Leu2798Gln) c.2246T>A (p.Leu749Gln) n.439T>A c.8483T>A (p.Leu2828Gln) c.8480T>A (p.Leu2827Gln) c.8261T>A (p.Leu2754Gln) c.6470T>A (p.Leu2157Gln) c.6020T>A (p.Leu2007Gln) c.5228T>A (p.Leu1743Gln) c.8390T>A (p.Leu2797Gln) | |
8 | g.60865332T>C | CA4761005 | CHD7 | n.1569T>C n.500T>C c.*1452T>C (n.*1452T>C) c.8393T>C (p.Leu2798Pro) c.2246T>C (p.Leu749Pro) n.439T>C c.8483T>C (p.Leu2828Pro) c.8480T>C (p.Leu2827Pro) c.8261T>C (p.Leu2754Pro) c.6470T>C (p.Leu2157Pro) c.6020T>C (p.Leu2007Pro) c.5228T>C (p.Leu1743Pro) c.8390T>C (p.Leu2797Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865332T>G | CA371308922 | CHD7 | n.1569T>G n.500T>G c.*1452T>G (n.*1452T>G) c.8393T>G (p.Leu2798Arg) c.2246T>G (p.Leu749Arg) n.439T>G c.8483T>G (p.Leu2828Arg) c.8480T>G (p.Leu2827Arg) c.8261T>G (p.Leu2754Arg) c.6470T>G (p.Leu2157Arg) c.6020T>G (p.Leu2007Arg) c.5228T>G (p.Leu1743Arg) c.8390T>G (p.Leu2797Arg) | |
8 | g.60865332T= | CA1788129984 | CHD7 | n.1569T= n.500T= c.*1452T= (n.*1452T=) c.8393T= (p.Leu2798=) c.2246T= (p.Leu749=) n.439T= c.8483T= (p.Leu2828=) c.8480T= (p.Leu2827=) c.8261T= (p.Leu2754=) c.6470T= (p.Leu2157=) c.6020T= (p.Leu2007=) c.5228T= (p.Leu1743=) c.8390T= (p.Leu2797=) | |
8 | g.60865333G>A | CA461105943 | CHD7 | n.1570G>A n.501G>A c.*1453G>A (n.*1453G>A) c.8394G>A (p.Leu2798=) c.2247G>A (p.Leu749=) n.440G>A c.8484G>A (p.Leu2828=) c.8481G>A (p.Leu2827=) c.8262G>A (p.Leu2754=) c.6471G>A (p.Leu2157=) c.6021G>A (p.Leu2007=) c.5229G>A (p.Leu1743=) c.8391G>A (p.Leu2797=) | |
8 | g.60865333G>C | CA461105942 | CHD7 | n.1570G>C n.501G>C c.*1453G>C (n.*1453G>C) c.8394G>C (p.Leu2798=) c.2247G>C (p.Leu749=) n.440G>C c.8484G>C (p.Leu2828=) c.8481G>C (p.Leu2827=) c.8262G>C (p.Leu2754=) c.6471G>C (p.Leu2157=) c.6021G>C (p.Leu2007=) c.5229G>C (p.Leu1743=) c.8391G>C (p.Leu2797=) | |
8 | g.60865333G>T | CA461105941 | CHD7 | n.1570G>T n.501G>T c.*1453G>T (n.*1453G>T) c.8394G>T (p.Leu2798=) c.2247G>T (p.Leu749=) n.440G>T c.8484G>T (p.Leu2828=) c.8481G>T (p.Leu2827=) c.8262G>T (p.Leu2754=) c.6471G>T (p.Leu2157=) c.6021G>T (p.Leu2007=) c.5229G>T (p.Leu1743=) c.8391G>T (p.Leu2797=) | |
8 | g.60865334A>C | CA371308924 | CHD7 | n.1571A>C n.502A>C c.*1454A>C (n.*1454A>C) c.8395A>C (p.Met2799Leu) c.2248A>C (p.Met750Leu) n.441A>C c.8485A>C (p.Met2829Leu) c.8482A>C (p.Met2828Leu) c.8263A>C (p.Met2755Leu) c.6472A>C (p.Met2158Leu) c.6022A>C (p.Met2008Leu) c.5230A>C (p.Met1744Leu) c.8392A>C (p.Met2798Leu) | |
8 | g.60865334A>G | CA371308926 | CHD7 | n.1571A>G n.502A>G c.*1454A>G (n.*1454A>G) c.8395A>G (p.Met2799Val) c.2248A>G (p.Met750Val) n.441A>G c.8485A>G (p.Met2829Val) c.8482A>G (p.Met2828Val) c.8263A>G (p.Met2755Val) c.6472A>G (p.Met2158Val) c.6022A>G (p.Met2008Val) c.5230A>G (p.Met1744Val) c.8392A>G (p.Met2798Val) | |
8 | g.60865334A>T | CA371308928 | CHD7 | n.1571A>T n.502A>T c.*1454A>T (n.*1454A>T) c.8395A>T (p.Met2799Leu) c.2248A>T (p.Met750Leu) n.441A>T c.8485A>T (p.Met2829Leu) c.8482A>T (p.Met2828Leu) c.8263A>T (p.Met2755Leu) c.6472A>T (p.Met2158Leu) c.6022A>T (p.Met2008Leu) c.5230A>T (p.Met1744Leu) c.8392A>T (p.Met2798Leu) | |
8 | g.60865335T>A | CA371308932 | CHD7 | n.1572T>A n.503T>A c.*1455T>A (n.*1455T>A) c.8396T>A (p.Met2799Lys) c.2249T>A (p.Met750Lys) n.442T>A c.8486T>A (p.Met2829Lys) c.8483T>A (p.Met2828Lys) c.8264T>A (p.Met2755Lys) c.6473T>A (p.Met2158Lys) c.6023T>A (p.Met2008Lys) c.5231T>A (p.Met1744Lys) c.8393T>A (p.Met2798Lys) | gnomAD v4 |
8 | g.60865335T>C | CA371308934 | CHD7 | n.1572T>C n.503T>C c.*1455T>C (n.*1455T>C) c.8396T>C (p.Met2799Thr) c.2249T>C (p.Met750Thr) n.442T>C c.8486T>C (p.Met2829Thr) c.8483T>C (p.Met2828Thr) c.8264T>C (p.Met2755Thr) c.6473T>C (p.Met2158Thr) c.6023T>C (p.Met2008Thr) c.5231T>C (p.Met1744Thr) c.8393T>C (p.Met2798Thr) | |
8 | g.60865335T>G | CA371308936 | CHD7 | n.1572T>G n.503T>G c.*1455T>G (n.*1455T>G) c.8396T>G (p.Met2799Arg) c.2249T>G (p.Met750Arg) n.442T>G c.8486T>G (p.Met2829Arg) c.8483T>G (p.Met2828Arg) c.8264T>G (p.Met2755Arg) c.6473T>G (p.Met2158Arg) c.6023T>G (p.Met2008Arg) c.5231T>G (p.Met1744Arg) c.8393T>G (p.Met2798Arg) | |
8 | g.60865336G>A | CA371308938 | CHD7 | n.1573G>A n.504G>A c.*1456G>A (n.*1456G>A) c.8397G>A (p.Met2799Ile) c.2250G>A (p.Met750Ile) n.443G>A c.8487G>A (p.Met2829Ile) c.8484G>A (p.Met2828Ile) c.8265G>A (p.Met2755Ile) c.6474G>A (p.Met2158Ile) c.6024G>A (p.Met2008Ile) c.5232G>A (p.Met1744Ile) c.8394G>A (p.Met2798Ile) | COSMIC |
8 | g.60865336G>C | CA371308940 | CHD7 | n.1573G>C n.504G>C c.*1456G>C (n.*1456G>C) c.8397G>C (p.Met2799Ile) c.2250G>C (p.Met750Ile) n.443G>C c.8487G>C (p.Met2829Ile) c.8484G>C (p.Met2828Ile) c.8265G>C (p.Met2755Ile) c.6474G>C (p.Met2158Ile) c.6024G>C (p.Met2008Ile) c.5232G>C (p.Met1744Ile) c.8394G>C (p.Met2798Ile) | |
8 | g.60865336G>T | CA371308943 | CHD7 | n.1573G>T n.504G>T c.*1456G>T (n.*1456G>T) c.8397G>T (p.Met2799Ile) c.2250G>T (p.Met750Ile) n.443G>T c.8487G>T (p.Met2829Ile) c.8484G>T (p.Met2828Ile) c.8265G>T (p.Met2755Ile) c.6474G>T (p.Met2158Ile) c.6024G>T (p.Met2008Ile) c.5232G>T (p.Met1744Ile) c.8394G>T (p.Met2798Ile) | |
8 | g.60865336dup | CA2780535750 | CHD7 | n.1573dup n.504dup c.*1456dup (n.*1456dup) c.8397dup (p.Leu2800AlafsTer19) c.2250dup (p.Leu751AlafsTer19) n.443dup c.8487dup (p.Leu2830AlafsTer19) c.8484dup (p.Leu2829AlafsTer19) c.8265dup (p.Leu2756AlafsTer19) c.6474dup (p.Leu2159AlafsTer19) c.6024dup (p.Leu2009AlafsTer19) c.5232dup (p.Leu1745AlafsTer19) c.8394dup (p.Leu2799AlafsTer19) | |
8 | g.60865337C>A | CA371308947 | CHD7 | n.1574C>A n.505C>A c.*1457C>A (n.*1457C>A) c.8398C>A (p.Leu2800Met) c.2251C>A (p.Leu751Met) n.444C>A c.8488C>A (p.Leu2830Met) c.8485C>A (p.Leu2829Met) c.8266C>A (p.Leu2756Met) c.6475C>A (p.Leu2159Met) c.6025C>A (p.Leu2009Met) c.5233C>A (p.Leu1745Met) c.8395C>A (p.Leu2799Met) | |
8 | g.60865337C= | CA1788129988 | CHD7 | n.1574C= n.505C= c.*1457C= (n.*1457C=) c.8398C= (p.Leu2800=) c.2251C= (p.Leu751=) n.444C= c.8488C= (p.Leu2830=) c.8485C= (p.Leu2829=) c.8266C= (p.Leu2756=) c.6475C= (p.Leu2159=) c.6025C= (p.Leu2009=) c.5233C= (p.Leu1745=) c.8395C= (p.Leu2799=) | |
8 | g.60865337C>G | CA371308946 | CHD7 | n.1574C>G n.505C>G c.*1457C>G (n.*1457C>G) c.8398C>G (p.Leu2800Val) c.2251C>G (p.Leu751Val) n.444C>G c.8488C>G (p.Leu2830Val) c.8485C>G (p.Leu2829Val) c.8266C>G (p.Leu2756Val) c.6475C>G (p.Leu2159Val) c.6025C>G (p.Leu2009Val) c.5233C>G (p.Leu1745Val) c.8395C>G (p.Leu2799Val) | |
8 | g.60865337C>T | CA461105944 | CHD7 | n.1574C>T n.505C>T c.*1457C>T (n.*1457C>T) c.8398C>T (p.Leu2800=) c.2251C>T (p.Leu751=) n.444C>T c.8488C>T (p.Leu2830=) c.8485C>T (p.Leu2829=) c.8266C>T (p.Leu2756=) c.6475C>T (p.Leu2159=) c.6025C>T (p.Leu2009=) c.5233C>T (p.Leu1745=) c.8395C>T (p.Leu2799=) | dbSNP |
8 | g.60865338T>A | CA371308948 | CHD7 | n.1575T>A n.506T>A c.*1458T>A (n.*1458T>A) c.8399T>A (p.Leu2800Gln) c.2252T>A (p.Leu751Gln) n.445T>A c.8489T>A (p.Leu2830Gln) c.8486T>A (p.Leu2829Gln) c.8267T>A (p.Leu2756Gln) c.6476T>A (p.Leu2159Gln) c.6026T>A (p.Leu2009Gln) c.5234T>A (p.Leu1745Gln) c.8396T>A (p.Leu2799Gln) | |
8 | g.60865338T>C | CA371308950 | CHD7 | n.1575T>C n.506T>C c.*1458T>C (n.*1458T>C) c.8399T>C (p.Leu2800Pro) c.2252T>C (p.Leu751Pro) n.445T>C c.8489T>C (p.Leu2830Pro) c.8486T>C (p.Leu2829Pro) c.8267T>C (p.Leu2756Pro) c.6476T>C (p.Leu2159Pro) c.6026T>C (p.Leu2009Pro) c.5234T>C (p.Leu1745Pro) c.8396T>C (p.Leu2799Pro) | gnomAD v4 |
8 | g.60865338T>G | CA371308951 | CHD7 | n.1575T>G n.506T>G c.*1458T>G (n.*1458T>G) c.8399T>G (p.Leu2800Arg) c.2252T>G (p.Leu751Arg) n.445T>G c.8489T>G (p.Leu2830Arg) c.8486T>G (p.Leu2829Arg) c.8267T>G (p.Leu2756Arg) c.6476T>G (p.Leu2159Arg) c.6026T>G (p.Leu2009Arg) c.5234T>G (p.Leu1745Arg) c.8396T>G (p.Leu2799Arg) | |
8 | g.60865339G>A | CA461105945 | CHD7 | n.1576G>A n.507G>A c.*1459G>A (n.*1459G>A) c.8400G>A (p.Leu2800=) c.2253G>A (p.Leu751=) n.446G>A c.8490G>A (p.Leu2830=) c.8487G>A (p.Leu2829=) c.8268G>A (p.Leu2756=) c.6477G>A (p.Leu2159=) c.6027G>A (p.Leu2009=) c.5235G>A (p.Leu1745=) c.8397G>A (p.Leu2799=) | gnomAD v4 |
8 | g.60865339G>C | CA461105946 | CHD7 | n.1576G>C n.507G>C c.*1459G>C (n.*1459G>C) c.8400G>C (p.Leu2800=) c.2253G>C (p.Leu751=) n.446G>C c.8490G>C (p.Leu2830=) c.8487G>C (p.Leu2829=) c.8268G>C (p.Leu2756=) c.6477G>C (p.Leu2159=) c.6027G>C (p.Leu2009=) c.5235G>C (p.Leu1745=) c.8397G>C (p.Leu2799=) | |
8 | g.60865339G>T | CA461105947 | CHD7 | n.1576G>T n.507G>T c.*1459G>T (n.*1459G>T) c.8400G>T (p.Leu2800=) c.2253G>T (p.Leu751=) n.446G>T c.8490G>T (p.Leu2830=) c.8487G>T (p.Leu2829=) c.8268G>T (p.Leu2756=) c.6477G>T (p.Leu2159=) c.6027G>T (p.Leu2009=) c.5235G>T (p.Leu1745=) c.8397G>T (p.Leu2799=) | |
8 | g.60865340C>A | CA371308954 | CHD7 | n.1577C>A n.508C>A c.*1460C>A (n.*1460C>A) c.8401C>A (p.Pro2801Thr) c.2254C>A (p.Pro752Thr) n.447C>A c.8491C>A (p.Pro2831Thr) c.8488C>A (p.Pro2830Thr) c.8269C>A (p.Pro2757Thr) c.6478C>A (p.Pro2160Thr) c.6028C>A (p.Pro2010Thr) c.5236C>A (p.Pro1746Thr) c.8398C>A (p.Pro2800Thr) | |
8 | g.60865340C>G | CA371308956 | CHD7 | n.1577C>G n.508C>G c.*1460C>G (n.*1460C>G) c.8401C>G (p.Pro2801Ala) c.2254C>G (p.Pro752Ala) n.447C>G c.8491C>G (p.Pro2831Ala) c.8488C>G (p.Pro2830Ala) c.8269C>G (p.Pro2757Ala) c.6478C>G (p.Pro2160Ala) c.6028C>G (p.Pro2010Ala) c.5236C>G (p.Pro1746Ala) c.8398C>G (p.Pro2800Ala) | gnomAD v4 |
8 | g.60865340C>T | CA371308961 | CHD7 | n.1577C>T n.508C>T c.*1460C>T (n.*1460C>T) c.8401C>T (p.Pro2801Ser) c.2254C>T (p.Pro752Ser) n.447C>T c.8491C>T (p.Pro2831Ser) c.8488C>T (p.Pro2830Ser) c.8269C>T (p.Pro2757Ser) c.6478C>T (p.Pro2160Ser) c.6028C>T (p.Pro2010Ser) c.5236C>T (p.Pro1746Ser) c.8398C>T (p.Pro2800Ser) | |
8 | g.60865341C>A | CA371308966 | CHD7 | n.1578C>A n.509C>A c.*1461C>A (n.*1461C>A) c.8402C>A (p.Pro2801Gln) c.2255C>A (p.Pro752Gln) n.448C>A c.8492C>A (p.Pro2831Gln) c.8489C>A (p.Pro2830Gln) c.8270C>A (p.Pro2757Gln) c.6479C>A (p.Pro2160Gln) c.6029C>A (p.Pro2010Gln) c.5237C>A (p.Pro1746Gln) c.8399C>A (p.Pro2800Gln) | |
8 | g.60865341C>G | CA371308975 | CHD7 | n.1578C>G n.509C>G c.*1461C>G (n.*1461C>G) c.8402C>G (p.Pro2801Arg) c.2255C>G (p.Pro752Arg) n.448C>G c.8492C>G (p.Pro2831Arg) c.8489C>G (p.Pro2830Arg) c.8270C>G (p.Pro2757Arg) c.6479C>G (p.Pro2160Arg) c.6029C>G (p.Pro2010Arg) c.5237C>G (p.Pro1746Arg) c.8399C>G (p.Pro2800Arg) | |
8 | g.60865341C>T | CA371308987 | CHD7 | n.1578C>T n.509C>T c.*1461C>T (n.*1461C>T) c.8402C>T (p.Pro2801Leu) c.2255C>T (p.Pro752Leu) n.448C>T c.8492C>T (p.Pro2831Leu) c.8489C>T (p.Pro2830Leu) c.8270C>T (p.Pro2757Leu) c.6479C>T (p.Pro2160Leu) c.6029C>T (p.Pro2010Leu) c.5237C>T (p.Pro1746Leu) c.8399C>T (p.Pro2800Leu) | |
8 | g.60865342A>C | CA461105948 | CHD7 | n.1579A>C n.510A>C c.*1462A>C (n.*1462A>C) c.8403A>C (p.Pro2801=) c.2256A>C (p.Pro752=) n.449A>C c.8493A>C (p.Pro2831=) c.8490A>C (p.Pro2830=) c.8271A>C (p.Pro2757=) c.6480A>C (p.Pro2160=) c.6030A>C (p.Pro2010=) c.5238A>C (p.Pro1746=) c.8400A>C (p.Pro2800=) | |
8 | g.60865342A>G | CA461105949 | CHD7 | n.1579A>G n.510A>G c.*1462A>G (n.*1462A>G) c.8403A>G (p.Pro2801=) c.2256A>G (p.Pro752=) n.449A>G c.8493A>G (p.Pro2831=) c.8490A>G (p.Pro2830=) c.8271A>G (p.Pro2757=) c.6480A>G (p.Pro2160=) c.6030A>G (p.Pro2010=) c.5238A>G (p.Pro1746=) c.8400A>G (p.Pro2800=) | |
8 | g.60865342A>T | CA461105950 | CHD7 | n.1579A>T n.510A>T c.*1462A>T (n.*1462A>T) c.8403A>T (p.Pro2801=) c.2256A>T (p.Pro752=) n.449A>T c.8493A>T (p.Pro2831=) c.8490A>T (p.Pro2830=) c.8271A>T (p.Pro2757=) c.6480A>T (p.Pro2160=) c.6030A>T (p.Pro2010=) c.5238A>T (p.Pro1746=) c.8400A>T (p.Pro2800=) | |
8 | g.60865343G>A | CA177329427 | CHD7 | n.1580G>A n.511G>A c.*1463G>A (n.*1463G>A) c.8404G>A (p.Gly2802Arg) c.2257G>A (p.Gly753Arg) n.450G>A c.8494G>A (p.Gly2832Arg) c.8491G>A (p.Gly2831Arg) c.8272G>A (p.Gly2758Arg) c.6481G>A (p.Gly2161Arg) c.6031G>A (p.Gly2011Arg) c.5239G>A (p.Gly1747Arg) c.8401G>A (p.Gly2801Arg) | dbSNP |
8 | g.60865343G>C | CA371308990 | CHD7 | n.1580G>C n.511G>C c.*1463G>C (n.*1463G>C) c.8404G>C (p.Gly2802Arg) c.2257G>C (p.Gly753Arg) n.450G>C c.8494G>C (p.Gly2832Arg) c.8491G>C (p.Gly2831Arg) c.8272G>C (p.Gly2758Arg) c.6481G>C (p.Gly2161Arg) c.6031G>C (p.Gly2011Arg) c.5239G>C (p.Gly1747Arg) c.8401G>C (p.Gly2801Arg) | |
8 | g.60865343G= | CA1788129992 | CHD7 | n.1580G= n.511G= c.*1463G= (n.*1463G=) c.8404G= (p.Gly2802=) c.2257G= (p.Gly753=) n.450G= c.8494G= (p.Gly2832=) c.8491G= (p.Gly2831=) c.8272G= (p.Gly2758=) c.6481G= (p.Gly2161=) c.6031G= (p.Gly2011=) c.5239G= (p.Gly1747=) c.8401G= (p.Gly2801=) | |
8 | g.60865343G>T | CA371309002 | CHD7 | n.1580G>T n.511G>T c.*1463G>T (n.*1463G>T) c.8404G>T (p.Gly2802Ter) c.2257G>T (p.Gly753Ter) n.450G>T c.8494G>T (p.Gly2832Ter) c.8491G>T (p.Gly2831Ter) c.8272G>T (p.Gly2758Ter) c.6481G>T (p.Gly2161Ter) c.6031G>T (p.Gly2011Ter) c.5239G>T (p.Gly1747Ter) c.8401G>T (p.Gly2801Ter) | |
8 | g.60865344G>A | CA371309012 | CHD7 | n.1581G>A n.512G>A c.*1464G>A (n.*1464G>A) c.8405G>A (p.Gly2802Glu) c.2258G>A (p.Gly753Glu) n.451G>A c.8495G>A (p.Gly2832Glu) c.8492G>A (p.Gly2831Glu) c.8273G>A (p.Gly2758Glu) c.6482G>A (p.Gly2161Glu) c.6032G>A (p.Gly2011Glu) c.5240G>A (p.Gly1747Glu) c.8402G>A (p.Gly2801Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865344G>C | CA371309020 | CHD7 | n.1581G>C n.512G>C c.*1464G>C (n.*1464G>C) c.8405G>C (p.Gly2802Ala) c.2258G>C (p.Gly753Ala) n.451G>C c.8495G>C (p.Gly2832Ala) c.8492G>C (p.Gly2831Ala) c.8273G>C (p.Gly2758Ala) c.6482G>C (p.Gly2161Ala) c.6032G>C (p.Gly2011Ala) c.5240G>C (p.Gly1747Ala) c.8402G>C (p.Gly2801Ala) | |
8 | g.60865344G= | CA1788129996 | CHD7 | n.1581G= n.512G= c.*1464G= (n.*1464G=) c.8405G= (p.Gly2802=) c.2258G= (p.Gly753=) n.451G= c.8495G= (p.Gly2832=) c.8492G= (p.Gly2831=) c.8273G= (p.Gly2758=) c.6482G= (p.Gly2161=) c.6032G= (p.Gly2011=) c.5240G= (p.Gly1747=) c.8402G= (p.Gly2801=) | |
8 | g.60865344G>T | CA371309008 | CHD7 | n.1581G>T n.512G>T c.*1464G>T (n.*1464G>T) c.8405G>T (p.Gly2802Val) c.2258G>T (p.Gly753Val) n.451G>T c.8495G>T (p.Gly2832Val) c.8492G>T (p.Gly2831Val) c.8273G>T (p.Gly2758Val) c.6482G>T (p.Gly2161Val) c.6032G>T (p.Gly2011Val) c.5240G>T (p.Gly1747Val) c.8402G>T (p.Gly2801Val) | |
8 | g.60865345A= | CA1788129997 | CHD7 | n.1582A= n.513A= c.*1465A= (n.*1465A=) c.8406A= (p.Gly2802=) c.2259A= (p.Gly753=) n.452A= c.8496A= (p.Gly2832=) c.8493A= (p.Gly2831=) c.8274A= (p.Gly2758=) c.6483A= (p.Gly2161=) c.6033A= (p.Gly2011=) c.5241A= (p.Gly1747=) c.8403A= (p.Gly2801=) | |
8 | g.60865345A>C | CA461105951 | CHD7 | n.1582A>C n.513A>C c.*1465A>C (n.*1465A>C) c.8406A>C (p.Gly2802=) c.2259A>C (p.Gly753=) n.452A>C c.8496A>C (p.Gly2832=) c.8493A>C (p.Gly2831=) c.8274A>C (p.Gly2758=) c.6483A>C (p.Gly2161=) c.6033A>C (p.Gly2011=) c.5241A>C (p.Gly1747=) c.8403A>C (p.Gly2801=) | |
8 | g.60865345A>G | CA461105952 | CHD7 | n.1582A>G n.513A>G c.*1465A>G (n.*1465A>G) c.8406A>G (p.Gly2802=) c.2259A>G (p.Gly753=) n.452A>G c.8496A>G (p.Gly2832=) c.8493A>G (p.Gly2831=) c.8274A>G (p.Gly2758=) c.6483A>G (p.Gly2161=) c.6033A>G (p.Gly2011=) c.5241A>G (p.Gly1747=) c.8403A>G (p.Gly2801=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865345A>T | CA461105953 | CHD7 | n.1582A>T n.513A>T c.*1465A>T (n.*1465A>T) c.8406A>T (p.Gly2802=) c.2259A>T (p.Gly753=) n.452A>T c.8496A>T (p.Gly2832=) c.8493A>T (p.Gly2831=) c.8274A>T (p.Gly2758=) c.6483A>T (p.Gly2161=) c.6033A>T (p.Gly2011=) c.5241A>T (p.Gly1747=) c.8403A>T (p.Gly2801=) | |
8 | g.60865346A>C | CA371309024 | CHD7 | n.1583A>C n.514A>C c.*1466A>C (n.*1466A>C) c.8407A>C (p.Met2803Leu) c.2260A>C (p.Met754Leu) n.453A>C c.8497A>C (p.Met2833Leu) c.8494A>C (p.Met2832Leu) c.8275A>C (p.Met2759Leu) c.6484A>C (p.Met2162Leu) c.6034A>C (p.Met2012Leu) c.5242A>C (p.Met1748Leu) c.8404A>C (p.Met2802Leu) | |
8 | g.60865346A>G | CA371309027 | CHD7 | n.1583A>G n.514A>G c.*1466A>G (n.*1466A>G) c.8407A>G (p.Met2803Val) c.2260A>G (p.Met754Val) n.453A>G c.8497A>G (p.Met2833Val) c.8494A>G (p.Met2832Val) c.8275A>G (p.Met2759Val) c.6484A>G (p.Met2162Val) c.6034A>G (p.Met2012Val) c.5242A>G (p.Met1748Val) c.8404A>G (p.Met2802Val) | ClinVar dbSNP |
8 | g.60865346A>T | CA371309029 | CHD7 | n.1583A>T n.514A>T c.*1466A>T (n.*1466A>T) c.8407A>T (p.Met2803Leu) c.2260A>T (p.Met754Leu) n.453A>T c.8497A>T (p.Met2833Leu) c.8494A>T (p.Met2832Leu) c.8275A>T (p.Met2759Leu) c.6484A>T (p.Met2162Leu) c.6034A>T (p.Met2012Leu) c.5242A>T (p.Met1748Leu) c.8404A>T (p.Met2802Leu) | |
8 | g.60865347T>A | CA371309033 | CHD7 | n.1584T>A n.515T>A c.*1467T>A (n.*1467T>A) c.8408T>A (p.Met2803Lys) c.2261T>A (p.Met754Lys) n.454T>A c.8498T>A (p.Met2833Lys) c.8495T>A (p.Met2832Lys) c.8276T>A (p.Met2759Lys) c.6485T>A (p.Met2162Lys) c.6035T>A (p.Met2012Lys) c.5243T>A (p.Met1748Lys) c.8405T>A (p.Met2802Lys) | |
8 | g.60865347T>C | CA371309034 | CHD7 | n.1584T>C n.515T>C c.*1467T>C (n.*1467T>C) c.8408T>C (p.Met2803Thr) c.2261T>C (p.Met754Thr) n.454T>C c.8498T>C (p.Met2833Thr) c.8495T>C (p.Met2832Thr) c.8276T>C (p.Met2759Thr) c.6485T>C (p.Met2162Thr) c.6035T>C (p.Met2012Thr) c.5243T>C (p.Met1748Thr) c.8405T>C (p.Met2802Thr) | |
8 | g.60865347T>G | CA371309036 | CHD7 | n.1584T>G n.515T>G c.*1467T>G (n.*1467T>G) c.8408T>G (p.Met2803Arg) c.2261T>G (p.Met754Arg) n.454T>G c.8498T>G (p.Met2833Arg) c.8495T>G (p.Met2832Arg) c.8276T>G (p.Met2759Arg) c.6485T>G (p.Met2162Arg) c.6035T>G (p.Met2012Arg) c.5243T>G (p.Met1748Arg) c.8405T>G (p.Met2802Arg) | |
8 | g.60865348G>A | CA371309041 | CHD7 | n.1585G>A n.516G>A c.*1468G>A (n.*1468G>A) c.8409G>A (p.Met2803Ile) c.2262G>A (p.Met754Ile) n.455G>A c.8499G>A (p.Met2833Ile) c.8496G>A (p.Met2832Ile) c.8277G>A (p.Met2759Ile) c.6486G>A (p.Met2162Ile) c.6036G>A (p.Met2012Ile) c.5244G>A (p.Met1748Ile) c.8406G>A (p.Met2802Ile) | |
8 | g.60865348G>C | CA371309047 | CHD7 | n.1585G>C n.516G>C c.*1468G>C (n.*1468G>C) c.8409G>C (p.Met2803Ile) c.2262G>C (p.Met754Ile) n.455G>C c.8499G>C (p.Met2833Ile) c.8496G>C (p.Met2832Ile) c.8277G>C (p.Met2759Ile) c.6486G>C (p.Met2162Ile) c.6036G>C (p.Met2012Ile) c.5244G>C (p.Met1748Ile) c.8406G>C (p.Met2802Ile) | |
8 | g.60865348G>T | CA371309051 | CHD7 | n.1585G>T n.516G>T c.*1468G>T (n.*1468G>T) c.8409G>T (p.Met2803Ile) c.2262G>T (p.Met754Ile) n.455G>T c.8499G>T (p.Met2833Ile) c.8496G>T (p.Met2832Ile) c.8277G>T (p.Met2759Ile) c.6486G>T (p.Met2162Ile) c.6036G>T (p.Met2012Ile) c.5244G>T (p.Met1748Ile) c.8406G>T (p.Met2802Ile) | |
8 | g.60865349G>A | CA177329439 | CHD7 | n.1586G>A n.517G>A c.*1469G>A (n.*1469G>A) c.8410G>A (p.Ala2804Thr) c.2263G>A (p.Ala755Thr) n.456G>A c.8500G>A (p.Ala2834Thr) c.8497G>A (p.Ala2833Thr) c.8278G>A (p.Ala2760Thr) c.6487G>A (p.Ala2163Thr) c.6037G>A (p.Ala2013Thr) c.5245G>A (p.Ala1749Thr) c.8407G>A (p.Ala2803Thr) | dbSNP |
8 | g.60865349G>C | CA371309057 | CHD7 | n.1586G>C n.517G>C c.*1469G>C (n.*1469G>C) c.8410G>C (p.Ala2804Pro) c.2263G>C (p.Ala755Pro) n.456G>C c.8500G>C (p.Ala2834Pro) c.8497G>C (p.Ala2833Pro) c.8278G>C (p.Ala2760Pro) c.6487G>C (p.Ala2163Pro) c.6037G>C (p.Ala2013Pro) c.5245G>C (p.Ala1749Pro) c.8407G>C (p.Ala2803Pro) | |
8 | g.60865349G= | CA1788130001 | CHD7 | n.1586G= n.517G= c.*1469G= (n.*1469G=) c.8410G= (p.Ala2804=) c.2263G= (p.Ala755=) n.456G= c.8500G= (p.Ala2834=) c.8497G= (p.Ala2833=) c.8278G= (p.Ala2760=) c.6487G= (p.Ala2163=) c.6037G= (p.Ala2013=) c.5245G= (p.Ala1749=) c.8407G= (p.Ala2803=) | |
8 | g.60865349G>T | CA371309058 | CHD7 | n.1586G>T n.517G>T c.*1469G>T (n.*1469G>T) c.8410G>T (p.Ala2804Ser) c.2263G>T (p.Ala755Ser) n.456G>T c.8500G>T (p.Ala2834Ser) c.8497G>T (p.Ala2833Ser) c.8278G>T (p.Ala2760Ser) c.6487G>T (p.Ala2163Ser) c.6037G>T (p.Ala2013Ser) c.5245G>T (p.Ala1749Ser) c.8407G>T (p.Ala2803Ser) | |
8 | g.60865350C>A | CA371309061 | CHD7 | n.1587C>A n.518C>A c.*1470C>A (n.*1470C>A) c.8411C>A (p.Ala2804Glu) c.2264C>A (p.Ala755Glu) n.457C>A c.8501C>A (p.Ala2834Glu) c.8498C>A (p.Ala2833Glu) c.8279C>A (p.Ala2760Glu) c.6488C>A (p.Ala2163Glu) c.6038C>A (p.Ala2013Glu) c.5246C>A (p.Ala1749Glu) c.8408C>A (p.Ala2803Glu) | |
8 | g.60865350C= | CA1788130006 | CHD7 | n.1587C= n.518C= c.*1470C= (n.*1470C=) c.8411C= (p.Ala2804=) c.2264C= (p.Ala755=) n.457C= c.8501C= (p.Ala2834=) c.8498C= (p.Ala2833=) c.8279C= (p.Ala2760=) c.6488C= (p.Ala2163=) c.6038C= (p.Ala2013=) c.5246C= (p.Ala1749=) c.8408C= (p.Ala2803=) | |
8 | g.60865350C>G | CA371309063 | CHD7 | n.1587C>G n.518C>G c.*1470C>G (n.*1470C>G) c.8411C>G (p.Ala2804Gly) c.2264C>G (p.Ala755Gly) n.457C>G c.8501C>G (p.Ala2834Gly) c.8498C>G (p.Ala2833Gly) c.8279C>G (p.Ala2760Gly) c.6488C>G (p.Ala2163Gly) c.6038C>G (p.Ala2013Gly) c.5246C>G (p.Ala1749Gly) c.8408C>G (p.Ala2803Gly) | |
8 | g.60865350C>T | CA4761006 | CHD7 | n.1587C>T n.518C>T c.*1470C>T (n.*1470C>T) c.8411C>T (p.Ala2804Val) c.2264C>T (p.Ala755Val) n.457C>T c.8501C>T (p.Ala2834Val) c.8498C>T (p.Ala2833Val) c.8279C>T (p.Ala2760Val) c.6488C>T (p.Ala2163Val) c.6038C>T (p.Ala2013Val) c.5246C>T (p.Ala1749Val) c.8408C>T (p.Ala2803Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865351G>A | CA4761007 | CHD7 | n.1588G>A n.519G>A c.*1471G>A (n.*1471G>A) c.8412G>A (p.Ala2804=) c.2265G>A (p.Ala755=) n.458G>A c.8502G>A (p.Ala2834=) c.8499G>A (p.Ala2833=) c.8280G>A (p.Ala2760=) c.6489G>A (p.Ala2163=) c.6039G>A (p.Ala2013=) c.5247G>A (p.Ala1749=) c.8409G>A (p.Ala2803=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865351G>C | CA461105955 | CHD7 | n.1588G>C n.519G>C c.*1471G>C (n.*1471G>C) c.8412G>C (p.Ala2804=) c.2265G>C (p.Ala755=) n.458G>C c.8502G>C (p.Ala2834=) c.8499G>C (p.Ala2833=) c.8280G>C (p.Ala2760=) c.6489G>C (p.Ala2163=) c.6039G>C (p.Ala2013=) c.5247G>C (p.Ala1749=) c.8409G>C (p.Ala2803=) | gnomAD v4 |
8 | g.60865351G= | CA1788130026 | CHD7 | n.1588G= n.519G= c.*1471G= (n.*1471G=) c.8412G= (p.Ala2804=) c.2265G= (p.Ala755=) n.458G= c.8502G= (p.Ala2834=) c.8499G= (p.Ala2833=) c.8280G= (p.Ala2760=) c.6489G= (p.Ala2163=) c.6039G= (p.Ala2013=) c.5247G= (p.Ala1749=) c.8409G= (p.Ala2803=) | |
8 | g.60865351G>T | CA461105954 | CHD7 | n.1588G>T n.519G>T c.*1471G>T (n.*1471G>T) c.8412G>T (p.Ala2804=) c.2265G>T (p.Ala755=) n.458G>T c.8502G>T (p.Ala2834=) c.8499G>T (p.Ala2833=) c.8280G>T (p.Ala2760=) c.6489G>T (p.Ala2163=) c.6039G>T (p.Ala2013=) c.5247G>T (p.Ala1749=) c.8409G>T (p.Ala2803=) | gnomAD v4 |
8 | g.60865353dup | CA371309065 | CHD7 | n.1590dup n.521dup c.*1473dup (n.*1473dup) c.8414dup (p.Leu2806ProfsTer13) c.2267dup (p.Leu757ProfsTer13) n.460dup c.8504dup (p.Leu2836ProfsTer13) c.8501dup (p.Leu2835ProfsTer13) c.8282dup (p.Leu2762ProfsTer13) c.6491dup (p.Leu2165ProfsTer13) c.6041dup (p.Leu2015ProfsTer13) c.5249dup (p.Leu1751ProfsTer13) c.8411dup (p.Leu2805ProfsTer13) | dbSNP |
8 | g.60865352G>A | CA4761008 | CHD7 | n.1589G>A n.520G>A c.*1472G>A (n.*1472G>A) c.8413G>A (p.Gly2805Ser) c.2266G>A (p.Gly756Ser) n.459G>A c.8503G>A (p.Gly2835Ser) c.8500G>A (p.Gly2834Ser) c.8281G>A (p.Gly2761Ser) c.6490G>A (p.Gly2164Ser) c.6040G>A (p.Gly2014Ser) c.5248G>A (p.Gly1750Ser) c.8410G>A (p.Gly2804Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865352G>C | CA371309074 | CHD7 | n.1589G>C n.520G>C c.*1472G>C (n.*1472G>C) c.8413G>C (p.Gly2805Arg) c.2266G>C (p.Gly756Arg) n.459G>C c.8503G>C (p.Gly2835Arg) c.8500G>C (p.Gly2834Arg) c.8281G>C (p.Gly2761Arg) c.6490G>C (p.Gly2164Arg) c.6040G>C (p.Gly2014Arg) c.5248G>C (p.Gly1750Arg) c.8410G>C (p.Gly2804Arg) | |
8 | g.60865352G= | CA1788130036 | CHD7 | n.1589G= n.520G= c.*1472G= (n.*1472G=) c.8413G= (p.Gly2805=) c.2266G= (p.Gly756=) n.459G= c.8503G= (p.Gly2835=) c.8500G= (p.Gly2834=) c.8281G= (p.Gly2761=) c.6490G= (p.Gly2164=) c.6040G= (p.Gly2014=) c.5248G= (p.Gly1750=) c.8410G= (p.Gly2804=) | |
8 | g.60865352G>T | CA371309076 | CHD7 | n.1589G>T n.520G>T c.*1472G>T (n.*1472G>T) c.8413G>T (p.Gly2805Cys) c.2266G>T (p.Gly756Cys) n.459G>T c.8503G>T (p.Gly2835Cys) c.8500G>T (p.Gly2834Cys) c.8281G>T (p.Gly2761Cys) c.6490G>T (p.Gly2164Cys) c.6040G>T (p.Gly2014Cys) c.5248G>T (p.Gly1750Cys) c.8410G>T (p.Gly2804Cys) | ClinVar dbSNP |
8 | g.60865353G>A | CA371309090 | CHD7 | n.1590G>A n.521G>A c.*1473G>A (n.*1473G>A) c.8414G>A (p.Gly2805Asp) c.2267G>A (p.Gly756Asp) n.460G>A c.8504G>A (p.Gly2835Asp) c.8501G>A (p.Gly2834Asp) c.8282G>A (p.Gly2761Asp) c.6491G>A (p.Gly2164Asp) c.6041G>A (p.Gly2014Asp) c.5249G>A (p.Gly1750Asp) c.8411G>A (p.Gly2804Asp) | gnomAD v4 |
8 | g.60865353G>C | CA371309079 | CHD7 | n.1590G>C n.521G>C c.*1473G>C (n.*1473G>C) c.8414G>C (p.Gly2805Ala) c.2267G>C (p.Gly756Ala) n.460G>C c.8504G>C (p.Gly2835Ala) c.8501G>C (p.Gly2834Ala) c.8282G>C (p.Gly2761Ala) c.6491G>C (p.Gly2164Ala) c.6041G>C (p.Gly2014Ala) c.5249G>C (p.Gly1750Ala) c.8411G>C (p.Gly2804Ala) | |
8 | g.60865353G>T | CA371309087 | CHD7 | n.1590G>T n.521G>T c.*1473G>T (n.*1473G>T) c.8414G>T (p.Gly2805Val) c.2267G>T (p.Gly756Val) n.460G>T c.8504G>T (p.Gly2835Val) c.8501G>T (p.Gly2834Val) c.8282G>T (p.Gly2761Val) c.6491G>T (p.Gly2164Val) c.6041G>T (p.Gly2014Val) c.5249G>T (p.Gly1750Val) c.8411G>T (p.Gly2804Val) | |
8 | g.60865354C>A | CA461105959 | CHD7 | n.1591C>A n.522C>A c.*1474C>A (n.*1474C>A) c.8415C>A (p.Gly2805=) c.2268C>A (p.Gly756=) n.461C>A c.8505C>A (p.Gly2835=) c.8502C>A (p.Gly2834=) c.8283C>A (p.Gly2761=) c.6492C>A (p.Gly2164=) c.6042C>A (p.Gly2014=) c.5250C>A (p.Gly1750=) c.8412C>A (p.Gly2804=) | |
8 | g.60865354C= | CA1788130046 | CHD7 | n.1591C= n.522C= c.*1474C= (n.*1474C=) c.8415C= (p.Gly2805=) c.2268C= (p.Gly756=) n.461C= c.8505C= (p.Gly2835=) c.8502C= (p.Gly2834=) c.8283C= (p.Gly2761=) c.6492C= (p.Gly2164=) c.6042C= (p.Gly2014=) c.5250C= (p.Gly1750=) c.8412C= (p.Gly2804=) | |
8 | g.60865354C>G | CA461105960 | CHD7 | n.1591C>G n.522C>G c.*1474C>G (n.*1474C>G) c.8415C>G (p.Gly2805=) c.2268C>G (p.Gly756=) n.461C>G c.8505C>G (p.Gly2835=) c.8502C>G (p.Gly2834=) c.8283C>G (p.Gly2761=) c.6492C>G (p.Gly2164=) c.6042C>G (p.Gly2014=) c.5250C>G (p.Gly1750=) c.8412C>G (p.Gly2804=) | dbSNP gnomAD v4 |
8 | g.60865354C>T | CA177329461 | CHD7 | n.1591C>T n.522C>T c.*1474C>T (n.*1474C>T) c.8415C>T (p.Gly2805=) c.2268C>T (p.Gly756=) n.461C>T c.8505C>T (p.Gly2835=) c.8502C>T (p.Gly2834=) c.8283C>T (p.Gly2761=) c.6492C>T (p.Gly2164=) c.6042C>T (p.Gly2014=) c.5250C>T (p.Gly1750=) c.8412C>T (p.Gly2804=) | dbSNP gnomAD v4 |
8 | g.60865355del | CA2739268821 | CHD7 | n.1592del n.523del c.*1475del (n.*1475del) c.8416del (p.Leu2806CysfsTer11) c.2269del (p.Leu757CysfsTer11) n.462del c.8506del (p.Leu2836CysfsTer11) c.8503del (p.Leu2835CysfsTer11) c.8284del (p.Leu2762CysfsTer11) c.6493del (p.Leu2165CysfsTer11) c.6043del (p.Leu2015CysfsTer11) c.5251del (p.Leu1751CysfsTer11) c.8413del (p.Leu2805CysfsTer11) | ClinVar |
8 | g.60865355C>A | CA371309102 | CHD7 | n.1592C>A n.523C>A c.*1475C>A (n.*1475C>A) c.8416C>A (p.Leu2806Met) c.2269C>A (p.Leu757Met) n.462C>A c.8506C>A (p.Leu2836Met) c.8503C>A (p.Leu2835Met) c.8284C>A (p.Leu2762Met) c.6493C>A (p.Leu2165Met) c.6043C>A (p.Leu2015Met) c.5251C>A (p.Leu1751Met) c.8413C>A (p.Leu2805Met) | |
8 | g.60865355C= | CA1788130053 | CHD7 | n.1592C= n.523C= c.*1475C= (n.*1475C=) c.8416C= (p.Leu2806=) c.2269C= (p.Leu757=) n.462C= c.8506C= (p.Leu2836=) c.8503C= (p.Leu2835=) c.8284C= (p.Leu2762=) c.6493C= (p.Leu2165=) c.6043C= (p.Leu2015=) c.5251C= (p.Leu1751=) c.8413C= (p.Leu2805=) | |
8 | g.60865355C>G | CA171767 | CHD7 | n.1592C>G n.523C>G c.*1475C>G (n.*1475C>G) c.8416C>G (p.Leu2806Val) c.2269C>G (p.Leu757Val) n.462C>G c.8506C>G (p.Leu2836Val) c.8503C>G (p.Leu2835Val) c.8284C>G (p.Leu2762Val) c.6493C>G (p.Leu2165Val) c.6043C>G (p.Leu2015Val) c.5251C>G (p.Leu1751Val) c.8413C>G (p.Leu2805Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865355C>T | CA461105965 | CHD7 | n.1592C>T n.523C>T c.*1475C>T (n.*1475C>T) c.8416C>T (p.Leu2806=) c.2269C>T (p.Leu757=) n.462C>T c.8506C>T (p.Leu2836=) c.8503C>T (p.Leu2835=) c.8284C>T (p.Leu2762=) c.6493C>T (p.Leu2165=) c.6043C>T (p.Leu2015=) c.5251C>T (p.Leu1751=) c.8413C>T (p.Leu2805=) | |
8 | g.60865356T>A | CA371309107 | CHD7 | n.1593T>A n.524T>A c.*1476T>A (n.*1476T>A) c.8417T>A (p.Leu2806Gln) c.2270T>A (p.Leu757Gln) n.463T>A c.8507T>A (p.Leu2836Gln) c.8504T>A (p.Leu2835Gln) c.8285T>A (p.Leu2762Gln) c.6494T>A (p.Leu2165Gln) c.6044T>A (p.Leu2015Gln) c.5252T>A (p.Leu1751Gln) c.8414T>A (p.Leu2805Gln) | |
8 | g.60865356T>C | CA371309109 | CHD7 | n.1593T>C n.524T>C c.*1476T>C (n.*1476T>C) c.8417T>C (p.Leu2806Pro) c.2270T>C (p.Leu757Pro) n.463T>C c.8507T>C (p.Leu2836Pro) c.8504T>C (p.Leu2835Pro) c.8285T>C (p.Leu2762Pro) c.6494T>C (p.Leu2165Pro) c.6044T>C (p.Leu2015Pro) c.5252T>C (p.Leu1751Pro) c.8414T>C (p.Leu2805Pro) | |
8 | g.60865356T>G | CA371309111 | CHD7 | n.1593T>G n.524T>G c.*1476T>G (n.*1476T>G) c.8417T>G (p.Leu2806Arg) c.2270T>G (p.Leu757Arg) n.463T>G c.8507T>G (p.Leu2836Arg) c.8504T>G (p.Leu2835Arg) c.8285T>G (p.Leu2762Arg) c.6494T>G (p.Leu2165Arg) c.6044T>G (p.Leu2015Arg) c.5252T>G (p.Leu1751Arg) c.8414T>G (p.Leu2805Arg) | |
8 | g.60865357G>A | CA461105973 | CHD7 | n.1594G>A n.525G>A c.*1477G>A (n.*1477G>A) c.8418G>A (p.Leu2806=) c.2271G>A (p.Leu757=) n.464G>A c.8508G>A (p.Leu2836=) c.8505G>A (p.Leu2835=) c.8286G>A (p.Leu2762=) c.6495G>A (p.Leu2165=) c.6045G>A (p.Leu2015=) c.5253G>A (p.Leu1751=) c.8415G>A (p.Leu2805=) | |
8 | g.60865357G>C | CA4761009 | CHD7 | n.1594G>C n.525G>C c.*1477G>C (n.*1477G>C) c.8418G>C (p.Leu2806=) c.2271G>C (p.Leu757=) n.464G>C c.8508G>C (p.Leu2836=) c.8505G>C (p.Leu2835=) c.8286G>C (p.Leu2762=) c.6495G>C (p.Leu2165=) c.6045G>C (p.Leu2015=) c.5253G>C (p.Leu1751=) c.8415G>C (p.Leu2805=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865357G= | CA1788130064 | CHD7 | n.1594G= n.525G= c.*1477G= (n.*1477G=) c.8418G= (p.Leu2806=) c.2271G= (p.Leu757=) n.464G= c.8508G= (p.Leu2836=) c.8505G= (p.Leu2835=) c.8286G= (p.Leu2762=) c.6495G= (p.Leu2165=) c.6045G= (p.Leu2015=) c.5253G= (p.Leu1751=) c.8415G= (p.Leu2805=) | |
8 | g.60865357G>T | CA461105971 | CHD7 | n.1594G>T n.525G>T c.*1477G>T (n.*1477G>T) c.8418G>T (p.Leu2806=) c.2271G>T (p.Leu757=) n.464G>T c.8508G>T (p.Leu2836=) c.8505G>T (p.Leu2835=) c.8286G>T (p.Leu2762=) c.6495G>T (p.Leu2165=) c.6045G>T (p.Leu2015=) c.5253G>T (p.Leu1751=) c.8415G>T (p.Leu2805=) | gnomAD v4 |
8 | g.60865358C>A | CA371309135 | CHD7 | n.1595C>A n.526C>A c.*1478C>A (n.*1478C>A) c.8419C>A (p.Pro2807Thr) c.2272C>A (p.Pro758Thr) n.465C>A c.8509C>A (p.Pro2837Thr) c.8506C>A (p.Pro2836Thr) c.8287C>A (p.Pro2763Thr) c.6496C>A (p.Pro2166Thr) c.6046C>A (p.Pro2016Thr) c.5254C>A (p.Pro1752Thr) c.8416C>A (p.Pro2806Thr) | |
8 | g.60865358C= | CA1788130075 | CHD7 | n.1595C= n.526C= c.*1478C= (n.*1478C=) c.8419C= (p.Pro2807=) c.2272C= (p.Pro758=) n.465C= c.8509C= (p.Pro2837=) c.8506C= (p.Pro2836=) c.8287C= (p.Pro2763=) c.6496C= (p.Pro2166=) c.6046C= (p.Pro2016=) c.5254C= (p.Pro1752=) c.8416C= (p.Pro2806=) | |
8 | g.60865358C>G | CA371309122 | CHD7 | n.1595C>G n.526C>G c.*1478C>G (n.*1478C>G) c.8419C>G (p.Pro2807Ala) c.2272C>G (p.Pro758Ala) n.465C>G c.8509C>G (p.Pro2837Ala) c.8506C>G (p.Pro2836Ala) c.8287C>G (p.Pro2763Ala) c.6496C>G (p.Pro2166Ala) c.6046C>G (p.Pro2016Ala) c.5254C>G (p.Pro1752Ala) c.8416C>G (p.Pro2806Ala) | dbSNP |
8 | g.60865358C>T | CA371309143 | CHD7 | n.1595C>T n.526C>T c.*1478C>T (n.*1478C>T) c.8419C>T (p.Pro2807Ser) c.2272C>T (p.Pro758Ser) n.465C>T c.8509C>T (p.Pro2837Ser) c.8506C>T (p.Pro2836Ser) c.8287C>T (p.Pro2763Ser) c.6496C>T (p.Pro2166Ser) c.6046C>T (p.Pro2016Ser) c.5254C>T (p.Pro1752Ser) c.8416C>T (p.Pro2806Ser) | gnomAD v4 |
8 | g.60865359C>A | CA371309146 | CHD7 | n.1596C>A n.527C>A c.*1479C>A (n.*1479C>A) c.8420C>A (p.Pro2807His) c.2273C>A (p.Pro758His) n.466C>A c.8510C>A (p.Pro2837His) c.8507C>A (p.Pro2836His) c.8288C>A (p.Pro2763His) c.6497C>A (p.Pro2166His) c.6047C>A (p.Pro2016His) c.5255C>A (p.Pro1752His) c.8417C>A (p.Pro2806His) | |
8 | g.60865359C= | CA1788130082 | CHD7 | n.1596C= n.527C= c.*1479C= (n.*1479C=) c.8420C= (p.Pro2807=) c.2273C= (p.Pro758=) n.466C= c.8510C= (p.Pro2837=) c.8507C= (p.Pro2836=) c.8288C= (p.Pro2763=) c.6497C= (p.Pro2166=) c.6047C= (p.Pro2016=) c.5255C= (p.Pro1752=) c.8417C= (p.Pro2806=) | |
8 | g.60865359C>G | CA371309151 | CHD7 | n.1596C>G n.527C>G c.*1479C>G (n.*1479C>G) c.8420C>G (p.Pro2807Arg) c.2273C>G (p.Pro758Arg) n.466C>G c.8510C>G (p.Pro2837Arg) c.8507C>G (p.Pro2836Arg) c.8288C>G (p.Pro2763Arg) c.6497C>G (p.Pro2166Arg) c.6047C>G (p.Pro2016Arg) c.5255C>G (p.Pro1752Arg) c.8417C>G (p.Pro2806Arg) | |
8 | g.60865359C>T | CA371309148 | CHD7 | n.1596C>T n.527C>T c.*1479C>T (n.*1479C>T) c.8420C>T (p.Pro2807Leu) c.2273C>T (p.Pro758Leu) n.466C>T c.8510C>T (p.Pro2837Leu) c.8507C>T (p.Pro2836Leu) c.8288C>T (p.Pro2763Leu) c.6497C>T (p.Pro2166Leu) c.6047C>T (p.Pro2016Leu) c.5255C>T (p.Pro1752Leu) c.8417C>T (p.Pro2806Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.60865360C>A | CA461105977 | CHD7 | n.1597C>A n.528C>A c.*1480C>A (n.*1480C>A) c.8421C>A (p.Pro2807=) c.2274C>A (p.Pro758=) n.467C>A c.8511C>A (p.Pro2837=) c.8508C>A (p.Pro2836=) c.8289C>A (p.Pro2763=) c.6498C>A (p.Pro2166=) c.6048C>A (p.Pro2016=) c.5256C>A (p.Pro1752=) c.8418C>A (p.Pro2806=) | |
8 | g.60865360C= | CA1788130087 | CHD7 | n.1597C= n.528C= c.*1480C= (n.*1480C=) c.8421C= (p.Pro2807=) c.2274C= (p.Pro758=) n.467C= c.8511C= (p.Pro2837=) c.8508C= (p.Pro2836=) c.8289C= (p.Pro2763=) c.6498C= (p.Pro2166=) c.6048C= (p.Pro2016=) c.5256C= (p.Pro1752=) c.8418C= (p.Pro2806=) | |
8 | g.60865360C>G | CA461105979 | CHD7 | n.1597C>G n.528C>G c.*1480C>G (n.*1480C>G) c.8421C>G (p.Pro2807=) c.2274C>G (p.Pro758=) n.467C>G c.8511C>G (p.Pro2837=) c.8508C>G (p.Pro2836=) c.8289C>G (p.Pro2763=) c.6498C>G (p.Pro2166=) c.6048C>G (p.Pro2016=) c.5256C>G (p.Pro1752=) c.8418C>G (p.Pro2806=) | |
8 | g.60865360C>T | CA4761010 | CHD7 | n.1597C>T n.528C>T c.*1480C>T (n.*1480C>T) c.8421C>T (p.Pro2807=) c.2274C>T (p.Pro758=) n.467C>T c.8511C>T (p.Pro2837=) c.8508C>T (p.Pro2836=) c.8289C>T (p.Pro2763=) c.6498C>T (p.Pro2166=) c.6048C>T (p.Pro2016=) c.5256C>T (p.Pro1752=) c.8418C>T (p.Pro2806=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865361A= | CA1788130089 | CHD7 | n.1598A= n.529A= c.*1481A= (n.*1481A=) c.8422A= (p.Asn2808=) c.2275A= (p.Asn759=) n.468A= c.8512A= (p.Asn2838=) c.8509A= (p.Asn2837=) c.8290A= (p.Asn2764=) c.6499A= (p.Asn2167=) c.6049A= (p.Asn2017=) c.5257A= (p.Asn1753=) c.8419A= (p.Asn2807=) | |
8 | g.60865361A>C | CA177329489 | CHD7 | n.1598A>C n.529A>C c.*1481A>C (n.*1481A>C) c.8422A>C (p.Asn2808His) c.2275A>C (p.Asn759His) n.468A>C c.8512A>C (p.Asn2838His) c.8509A>C (p.Asn2837His) c.8290A>C (p.Asn2764His) c.6499A>C (p.Asn2167His) c.6049A>C (p.Asn2017His) c.5257A>C (p.Asn1753His) c.8419A>C (p.Asn2807His) | dbSNP gnomAD v4 |
8 | g.60865361A>G | CA371309160 | CHD7 | n.1598A>G n.529A>G c.*1481A>G (n.*1481A>G) c.8422A>G (p.Asn2808Asp) c.2275A>G (p.Asn759Asp) n.468A>G c.8512A>G (p.Asn2838Asp) c.8509A>G (p.Asn2837Asp) c.8290A>G (p.Asn2764Asp) c.6499A>G (p.Asn2167Asp) c.6049A>G (p.Asn2017Asp) c.5257A>G (p.Asn1753Asp) c.8419A>G (p.Asn2807Asp) | |
8 | g.60865361A>T | CA371309172 | CHD7 | n.1598A>T n.529A>T c.*1481A>T (n.*1481A>T) c.8422A>T (p.Asn2808Tyr) c.2275A>T (p.Asn759Tyr) n.468A>T c.8512A>T (p.Asn2838Tyr) c.8509A>T (p.Asn2837Tyr) c.8290A>T (p.Asn2764Tyr) c.6499A>T (p.Asn2167Tyr) c.6049A>T (p.Asn2017Tyr) c.5257A>T (p.Asn1753Tyr) c.8419A>T (p.Asn2807Tyr) | |
8 | g.60865362A= | CA1788130095 | CHD7 | n.1599A= n.530A= c.*1482A= (n.*1482A=) c.8423A= (p.Asn2808=) c.2276A= (p.Asn759=) n.469A= c.8513A= (p.Asn2838=) c.8510A= (p.Asn2837=) c.8291A= (p.Asn2764=) c.6500A= (p.Asn2167=) c.6050A= (p.Asn2017=) c.5258A= (p.Asn1753=) c.8420A= (p.Asn2807=) | |
8 | g.60865362A>C | CA371309178 | CHD7 | n.1599A>C n.530A>C c.*1482A>C (n.*1482A>C) c.8423A>C (p.Asn2808Thr) c.2276A>C (p.Asn759Thr) n.469A>C c.8513A>C (p.Asn2838Thr) c.8510A>C (p.Asn2837Thr) c.8291A>C (p.Asn2764Thr) c.6500A>C (p.Asn2167Thr) c.6050A>C (p.Asn2017Thr) c.5258A>C (p.Asn1753Thr) c.8420A>C (p.Asn2807Thr) | ClinVar dbSNP |
8 | g.60865362A>G | CA4761011 | CHD7 | n.1599A>G n.530A>G c.*1482A>G (n.*1482A>G) c.8423A>G (p.Asn2808Ser) c.2276A>G (p.Asn759Ser) n.469A>G c.8513A>G (p.Asn2838Ser) c.8510A>G (p.Asn2837Ser) c.8291A>G (p.Asn2764Ser) c.6500A>G (p.Asn2167Ser) c.6050A>G (p.Asn2017Ser) c.5258A>G (p.Asn1753Ser) c.8420A>G (p.Asn2807Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865362A>T | CA371309195 | CHD7 | n.1599A>T n.530A>T c.*1482A>T (n.*1482A>T) c.8423A>T (p.Asn2808Ile) c.2276A>T (p.Asn759Ile) n.469A>T c.8513A>T (p.Asn2838Ile) c.8510A>T (p.Asn2837Ile) c.8291A>T (p.Asn2764Ile) c.6500A>T (p.Asn2167Ile) c.6050A>T (p.Asn2017Ile) c.5258A>T (p.Asn1753Ile) c.8420A>T (p.Asn2807Ile) | |
8 | g.60865363C>A | CA371309200 | CHD7 | n.1600C>A n.531C>A c.*1483C>A (n.*1483C>A) c.8424C>A (p.Asn2808Lys) c.2277C>A (p.Asn759Lys) n.470C>A c.8514C>A (p.Asn2838Lys) c.8511C>A (p.Asn2837Lys) c.8292C>A (p.Asn2764Lys) c.6501C>A (p.Asn2167Lys) c.6051C>A (p.Asn2017Lys) c.5259C>A (p.Asn1753Lys) c.8421C>A (p.Asn2807Lys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865363C= | CA1788130107 | CHD7 | n.1600C= n.531C= c.*1483C= (n.*1483C=) c.8424C= (p.Asn2808=) c.2277C= (p.Asn759=) n.470C= c.8514C= (p.Asn2838=) c.8511C= (p.Asn2837=) c.8292C= (p.Asn2764=) c.6501C= (p.Asn2167=) c.6051C= (p.Asn2017=) c.5259C= (p.Asn1753=) c.8421C= (p.Asn2807=) | |
8 | g.60865363C>G | CA371309204 | CHD7 | n.1600C>G n.531C>G c.*1483C>G (n.*1483C>G) c.8424C>G (p.Asn2808Lys) c.2277C>G (p.Asn759Lys) n.470C>G c.8514C>G (p.Asn2838Lys) c.8511C>G (p.Asn2837Lys) c.8292C>G (p.Asn2764Lys) c.6501C>G (p.Asn2167Lys) c.6051C>G (p.Asn2017Lys) c.5259C>G (p.Asn1753Lys) c.8421C>G (p.Asn2807Lys) | |
8 | g.60865363C>T | CA4761012 | CHD7 | n.1600C>T n.531C>T c.*1483C>T (n.*1483C>T) c.8424C>T (p.Asn2808=) c.2277C>T (p.Asn759=) n.470C>T c.8514C>T (p.Asn2838=) c.8511C>T (p.Asn2837=) c.8292C>T (p.Asn2764=) c.6501C>T (p.Asn2167=) c.6051C>T (p.Asn2017=) c.5259C>T (p.Asn1753=) c.8421C>T (p.Asn2807=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865364G>A | CA4761013 | CHD7 | n.1601G>A n.532G>A c.*1484G>A (n.*1484G>A) c.8425G>A (p.Val2809Met) c.2278G>A (p.Val760Met) n.471G>A c.8515G>A (p.Val2839Met) c.8512G>A (p.Val2838Met) c.8293G>A (p.Val2765Met) c.6502G>A (p.Val2168Met) c.6052G>A (p.Val2018Met) c.5260G>A (p.Val1754Met) c.8422G>A (p.Val2808Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865364G>C | CA371309226 | CHD7 | n.1601G>C n.532G>C c.*1484G>C (n.*1484G>C) c.8425G>C (p.Val2809Leu) c.2278G>C (p.Val760Leu) n.471G>C c.8515G>C (p.Val2839Leu) c.8512G>C (p.Val2838Leu) c.8293G>C (p.Val2765Leu) c.6502G>C (p.Val2168Leu) c.6052G>C (p.Val2018Leu) c.5260G>C (p.Val1754Leu) c.8422G>C (p.Val2808Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865364G= | CA1788130120 | CHD7 | n.1601G= n.532G= c.*1484G= (n.*1484G=) c.8425G= (p.Val2809=) c.2278G= (p.Val760=) n.471G= c.8515G= (p.Val2839=) c.8512G= (p.Val2838=) c.8293G= (p.Val2765=) c.6502G= (p.Val2168=) c.6052G= (p.Val2018=) c.5260G= (p.Val1754=) c.8422G= (p.Val2808=) | |
8 | g.60865364G>T | CA371309255 | CHD7 | n.1601G>T n.532G>T c.*1484G>T (n.*1484G>T) c.8425G>T (p.Val2809Leu) c.2278G>T (p.Val760Leu) n.471G>T c.8515G>T (p.Val2839Leu) c.8512G>T (p.Val2838Leu) c.8293G>T (p.Val2765Leu) c.6502G>T (p.Val2168Leu) c.6052G>T (p.Val2018Leu) c.5260G>T (p.Val1754Leu) c.8422G>T (p.Val2808Leu) | |
8 | g.60865365T>A | CA371309260 | CHD7 | n.1602T>A n.533T>A c.*1485T>A (n.*1485T>A) c.8426T>A (p.Val2809Glu) c.2279T>A (p.Val760Glu) n.472T>A c.8516T>A (p.Val2839Glu) c.8513T>A (p.Val2838Glu) c.8294T>A (p.Val2765Glu) c.6503T>A (p.Val2168Glu) c.6053T>A (p.Val2018Glu) c.5261T>A (p.Val1754Glu) c.8423T>A (p.Val2808Glu) | |
8 | g.60865365T>C | CA371309261 | CHD7 | n.1602T>C n.533T>C c.*1485T>C (n.*1485T>C) c.8426T>C (p.Val2809Ala) c.2279T>C (p.Val760Ala) n.472T>C c.8516T>C (p.Val2839Ala) c.8513T>C (p.Val2838Ala) c.8294T>C (p.Val2765Ala) c.6503T>C (p.Val2168Ala) c.6053T>C (p.Val2018Ala) c.5261T>C (p.Val1754Ala) c.8423T>C (p.Val2808Ala) | |
8 | g.60865365T>G | CA371309263 | CHD7 | n.1602T>G n.533T>G c.*1485T>G (n.*1485T>G) c.8426T>G (p.Val2809Gly) c.2279T>G (p.Val760Gly) n.472T>G c.8516T>G (p.Val2839Gly) c.8513T>G (p.Val2838Gly) c.8294T>G (p.Val2765Gly) c.6503T>G (p.Val2168Gly) c.6053T>G (p.Val2018Gly) c.5261T>G (p.Val1754Gly) c.8423T>G (p.Val2808Gly) | |
8 | g.60865366G>A | CA461105991 | CHD7 | n.1603G>A n.534G>A c.*1486G>A (n.*1486G>A) c.8427G>A (p.Val2809=) c.2280G>A (p.Val760=) n.473G>A c.8517G>A (p.Val2839=) c.8514G>A (p.Val2838=) c.8295G>A (p.Val2765=) c.6504G>A (p.Val2168=) c.6054G>A (p.Val2018=) c.5262G>A (p.Val1754=) c.8424G>A (p.Val2808=) | dbSNP gnomAD v2 |
8 | g.60865366G>C | CA461105992 | CHD7 | n.1603G>C n.534G>C c.*1486G>C (n.*1486G>C) c.8427G>C (p.Val2809=) c.2280G>C (p.Val760=) n.473G>C c.8517G>C (p.Val2839=) c.8514G>C (p.Val2838=) c.8295G>C (p.Val2765=) c.6504G>C (p.Val2168=) c.6054G>C (p.Val2018=) c.5262G>C (p.Val1754=) c.8424G>C (p.Val2808=) | |
8 | g.60865366G= | CA1788130131 | CHD7 | n.1603G= n.534G= c.*1486G= (n.*1486G=) c.8427G= (p.Val2809=) c.2280G= (p.Val760=) n.473G= c.8517G= (p.Val2839=) c.8514G= (p.Val2838=) c.8295G= (p.Val2765=) c.6504G= (p.Val2168=) c.6054G= (p.Val2018=) c.5262G= (p.Val1754=) c.8424G= (p.Val2808=) | |
8 | g.60865366G>T | CA461105993 | CHD7 | n.1603G>T n.534G>T c.*1486G>T (n.*1486G>T) c.8427G>T (p.Val2809=) c.2280G>T (p.Val760=) n.473G>T c.8517G>T (p.Val2839=) c.8514G>T (p.Val2838=) c.8295G>T (p.Val2765=) c.6504G>T (p.Val2168=) c.6054G>T (p.Val2018=) c.5262G>T (p.Val1754=) c.8424G>T (p.Val2808=) | |
8 | g.60865367T>A | CA4761014 | CHD7 | n.1604T>A n.535T>A c.*1487T>A (n.*1487T>A) c.8428T>A (p.Phe2810Ile) c.2281T>A (p.Phe761Ile) n.474T>A c.8518T>A (p.Phe2840Ile) c.8515T>A (p.Phe2839Ile) c.8296T>A (p.Phe2766Ile) c.6505T>A (p.Phe2169Ile) c.6055T>A (p.Phe2019Ile) c.5263T>A (p.Phe1755Ile) c.8425T>A (p.Phe2809Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865367T>C | CA371309267 | CHD7 | n.1604T>C n.535T>C c.*1487T>C (n.*1487T>C) c.8428T>C (p.Phe2810Leu) c.2281T>C (p.Phe761Leu) n.474T>C c.8518T>C (p.Phe2840Leu) c.8515T>C (p.Phe2839Leu) c.8296T>C (p.Phe2766Leu) c.6505T>C (p.Phe2169Leu) c.6055T>C (p.Phe2019Leu) c.5263T>C (p.Phe1755Leu) c.8425T>C (p.Phe2809Leu) | |
8 | g.60865367T>G | CA371309271 | CHD7 | n.1604T>G n.535T>G c.*1487T>G (n.*1487T>G) c.8428T>G (p.Phe2810Val) c.2281T>G (p.Phe761Val) n.474T>G c.8518T>G (p.Phe2840Val) c.8515T>G (p.Phe2839Val) c.8296T>G (p.Phe2766Val) c.6505T>G (p.Phe2169Val) c.6055T>G (p.Phe2019Val) c.5263T>G (p.Phe1755Val) c.8425T>G (p.Phe2809Val) | |
8 | g.60865367T= | CA1788130143 | CHD7 | n.1604T= n.535T= c.*1487T= (n.*1487T=) c.8428T= (p.Phe2810=) c.2281T= (p.Phe761=) n.474T= c.8518T= (p.Phe2840=) c.8515T= (p.Phe2839=) c.8296T= (p.Phe2766=) c.6505T= (p.Phe2169=) c.6055T= (p.Phe2019=) c.5263T= (p.Phe1755=) c.8425T= (p.Phe2809=) | |
8 | g.60865368T>A | CA371309275 | CHD7 | n.1605T>A n.536T>A c.*1488T>A (n.*1488T>A) c.8429T>A (p.Phe2810Tyr) c.2282T>A (p.Phe761Tyr) n.475T>A c.8519T>A (p.Phe2840Tyr) c.8516T>A (p.Phe2839Tyr) c.8297T>A (p.Phe2766Tyr) c.6506T>A (p.Phe2169Tyr) c.6056T>A (p.Phe2019Tyr) c.5264T>A (p.Phe1755Tyr) c.8426T>A (p.Phe2809Tyr) | |
8 | g.60865368T>C | CA371309277 | CHD7 | n.1605T>C n.536T>C c.*1488T>C (n.*1488T>C) c.8429T>C (p.Phe2810Ser) c.2282T>C (p.Phe761Ser) n.475T>C c.8519T>C (p.Phe2840Ser) c.8516T>C (p.Phe2839Ser) c.8297T>C (p.Phe2766Ser) c.6506T>C (p.Phe2169Ser) c.6056T>C (p.Phe2019Ser) c.5264T>C (p.Phe1755Ser) c.8426T>C (p.Phe2809Ser) | |
8 | g.60865368T>G | CA371309279 | CHD7 | n.1605T>G n.536T>G c.*1488T>G (n.*1488T>G) c.8429T>G (p.Phe2810Cys) c.2282T>G (p.Phe761Cys) n.475T>G c.8519T>G (p.Phe2840Cys) c.8516T>G (p.Phe2839Cys) c.8297T>G (p.Phe2766Cys) c.6506T>G (p.Phe2169Cys) c.6056T>G (p.Phe2019Cys) c.5264T>G (p.Phe1755Cys) c.8426T>G (p.Phe2809Cys) | dbSNP |
8 | g.60865368T= | CA1788130147 | CHD7 | n.1605T= n.536T= c.*1488T= (n.*1488T=) c.8429T= (p.Phe2810=) c.2282T= (p.Phe761=) n.475T= c.8519T= (p.Phe2840=) c.8516T= (p.Phe2839=) c.8297T= (p.Phe2766=) c.6506T= (p.Phe2169=) c.6056T= (p.Phe2019=) c.5264T= (p.Phe1755=) c.8426T= (p.Phe2809=) | |
8 | g.60865369T>A | CA371309282 | CHD7 | n.1606T>A n.537T>A c.*1489T>A (n.*1489T>A) c.8430T>A (p.Phe2810Leu) c.2283T>A (p.Phe761Leu) n.476T>A c.8520T>A (p.Phe2840Leu) c.8517T>A (p.Phe2839Leu) c.8298T>A (p.Phe2766Leu) c.6507T>A (p.Phe2169Leu) c.6057T>A (p.Phe2019Leu) c.5265T>A (p.Phe1755Leu) c.8427T>A (p.Phe2809Leu) | |
8 | g.60865369T>C | CA461105996 | CHD7 | n.1606T>C n.537T>C c.*1489T>C (n.*1489T>C) c.8430T>C (p.Phe2810=) c.2283T>C (p.Phe761=) n.476T>C c.8520T>C (p.Phe2840=) c.8517T>C (p.Phe2839=) c.8298T>C (p.Phe2766=) c.6507T>C (p.Phe2169=) c.6057T>C (p.Phe2019=) c.5265T>C (p.Phe1755=) c.8427T>C (p.Phe2809=) | |
8 | g.60865369T>G | CA371309284 | CHD7 | n.1606T>G n.537T>G c.*1489T>G (n.*1489T>G) c.8430T>G (p.Phe2810Leu) c.2283T>G (p.Phe761Leu) n.476T>G c.8520T>G (p.Phe2840Leu) c.8517T>G (p.Phe2839Leu) c.8298T>G (p.Phe2766Leu) c.6507T>G (p.Phe2169Leu) c.6057T>G (p.Phe2019Leu) c.5265T>G (p.Phe1755Leu) c.8427T>G (p.Phe2809Leu) | |
8 | g.60865370G>A | CA4761015 | CHD7 | n.1607G>A n.538G>A c.*1490G>A (n.*1490G>A) c.8431G>A (p.Gly2811Ser) c.2284G>A (p.Gly762Ser) n.477G>A c.8521G>A (p.Gly2841Ser) c.8518G>A (p.Gly2840Ser) c.8299G>A (p.Gly2767Ser) c.6508G>A (p.Gly2170Ser) c.6058G>A (p.Gly2020Ser) c.5266G>A (p.Gly1756Ser) c.8428G>A (p.Gly2810Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865370G>C | CA371309289 | CHD7 | n.1607G>C n.538G>C c.*1490G>C (n.*1490G>C) c.8431G>C (p.Gly2811Arg) c.2284G>C (p.Gly762Arg) n.477G>C c.8521G>C (p.Gly2841Arg) c.8518G>C (p.Gly2840Arg) c.8299G>C (p.Gly2767Arg) c.6508G>C (p.Gly2170Arg) c.6058G>C (p.Gly2020Arg) c.5266G>C (p.Gly1756Arg) c.8428G>C (p.Gly2810Arg) | |
8 | g.60865370G= | CA1788130150 | CHD7 | n.1607G= n.538G= c.*1490G= (n.*1490G=) c.8431G= (p.Gly2811=) c.2284G= (p.Gly762=) n.477G= c.8521G= (p.Gly2841=) c.8518G= (p.Gly2840=) c.8299G= (p.Gly2767=) c.6508G= (p.Gly2170=) c.6058G= (p.Gly2020=) c.5266G= (p.Gly1756=) c.8428G= (p.Gly2810=) | |
8 | g.60865370G>T | CA371309293 | CHD7 | n.1607G>T n.538G>T c.*1490G>T (n.*1490G>T) c.8431G>T (p.Gly2811Cys) c.2284G>T (p.Gly762Cys) n.477G>T c.8521G>T (p.Gly2841Cys) c.8518G>T (p.Gly2840Cys) c.8299G>T (p.Gly2767Cys) c.6508G>T (p.Gly2170Cys) c.6058G>T (p.Gly2020Cys) c.5266G>T (p.Gly1756Cys) c.8428G>T (p.Gly2810Cys) | |
8 | g.60865371G>A | CA371309304 | CHD7 | n.1608G>A n.539G>A c.*1491G>A (n.*1491G>A) c.8432G>A (p.Gly2811Asp) c.2285G>A (p.Gly762Asp) n.478G>A c.8522G>A (p.Gly2841Asp) c.8519G>A (p.Gly2840Asp) c.8300G>A (p.Gly2767Asp) c.6509G>A (p.Gly2170Asp) c.6059G>A (p.Gly2020Asp) c.5267G>A (p.Gly1756Asp) c.8429G>A (p.Gly2810Asp) | gnomAD v4 |
8 | g.60865371G>C | CA371309309 | CHD7 | n.1608G>C n.539G>C c.*1491G>C (n.*1491G>C) c.8432G>C (p.Gly2811Ala) c.2285G>C (p.Gly762Ala) n.478G>C c.8522G>C (p.Gly2841Ala) c.8519G>C (p.Gly2840Ala) c.8300G>C (p.Gly2767Ala) c.6509G>C (p.Gly2170Ala) c.6059G>C (p.Gly2020Ala) c.5267G>C (p.Gly1756Ala) c.8429G>C (p.Gly2810Ala) | |
8 | g.60865371G>T | CA371309323 | CHD7 | n.1608G>T n.539G>T c.*1491G>T (n.*1491G>T) c.8432G>T (p.Gly2811Val) c.2285G>T (p.Gly762Val) n.478G>T c.8522G>T (p.Gly2841Val) c.8519G>T (p.Gly2840Val) c.8300G>T (p.Gly2767Val) c.6509G>T (p.Gly2170Val) c.6059G>T (p.Gly2020Val) c.5267G>T (p.Gly1756Val) c.8429G>T (p.Gly2810Val) | gnomAD v4 |
8 | g.60865372C>A | CA461106000 | CHD7 | n.1609C>A n.540C>A c.*1492C>A (n.*1492C>A) c.8433C>A (p.Gly2811=) c.2286C>A (p.Gly762=) n.479C>A c.8523C>A (p.Gly2841=) c.8520C>A (p.Gly2840=) c.8301C>A (p.Gly2767=) c.6510C>A (p.Gly2170=) c.6060C>A (p.Gly2020=) c.5268C>A (p.Gly1756=) c.8430C>A (p.Gly2810=) | gnomAD v4 |
8 | g.60865372C>G | CA461106001 | CHD7 | n.1609C>G n.540C>G c.*1492C>G (n.*1492C>G) c.8433C>G (p.Gly2811=) c.2286C>G (p.Gly762=) n.479C>G c.8523C>G (p.Gly2841=) c.8520C>G (p.Gly2840=) c.8301C>G (p.Gly2767=) c.6510C>G (p.Gly2170=) c.6060C>G (p.Gly2020=) c.5268C>G (p.Gly1756=) c.8430C>G (p.Gly2810=) | |
8 | g.60865372C>T | CA461106002 | CHD7 | n.1609C>T n.540C>T c.*1492C>T (n.*1492C>T) c.8433C>T (p.Gly2811=) c.2286C>T (p.Gly762=) n.479C>T c.8523C>T (p.Gly2841=) c.8520C>T (p.Gly2840=) c.8301C>T (p.Gly2767=) c.6510C>T (p.Gly2170=) c.6060C>T (p.Gly2020=) c.5268C>T (p.Gly1756=) c.8430C>T (p.Gly2810=) | gnomAD v4 |
8 | g.60865373T>A | CA371309334 | CHD7 | n.1610T>A n.541T>A c.*1493T>A (n.*1493T>A) c.8434T>A (p.Leu2812Met) c.2287T>A (p.Leu763Met) n.480T>A c.8524T>A (p.Leu2842Met) c.8521T>A (p.Leu2841Met) c.8302T>A (p.Leu2768Met) c.6511T>A (p.Leu2171Met) c.6061T>A (p.Leu2021Met) c.5269T>A (p.Leu1757Met) c.8431T>A (p.Leu2811Met) | |
8 | g.60865373T>C | CA461106003 | CHD7 | n.1610T>C n.541T>C c.*1493T>C (n.*1493T>C) c.8434T>C (p.Leu2812=) c.2287T>C (p.Leu763=) n.480T>C c.8524T>C (p.Leu2842=) c.8521T>C (p.Leu2841=) c.8302T>C (p.Leu2768=) c.6511T>C (p.Leu2171=) c.6061T>C (p.Leu2021=) c.5269T>C (p.Leu1757=) c.8431T>C (p.Leu2811=) | |
8 | g.60865373T>G | CA371309329 | CHD7 | n.1610T>G n.541T>G c.*1493T>G (n.*1493T>G) c.8434T>G (p.Leu2812Val) c.2287T>G (p.Leu763Val) n.480T>G c.8524T>G (p.Leu2842Val) c.8521T>G (p.Leu2841Val) c.8302T>G (p.Leu2768Val) c.6511T>G (p.Leu2171Val) c.6061T>G (p.Leu2021Val) c.5269T>G (p.Leu1757Val) c.8431T>G (p.Leu2811Val) | |
8 | g.60865374T>A | CA371309340 | CHD7 | n.1611T>A n.542T>A c.*1494T>A (n.*1494T>A) c.8435T>A (p.Leu2812Ter) c.2288T>A (p.Leu763Ter) n.481T>A c.8525T>A (p.Leu2842Ter) c.8522T>A (p.Leu2841Ter) c.8303T>A (p.Leu2768Ter) c.6512T>A (p.Leu2171Ter) c.6062T>A (p.Leu2021Ter) c.5270T>A (p.Leu1757Ter) c.8432T>A (p.Leu2811Ter) | |
8 | g.60865374T>C | CA371309342 | CHD7 | n.1611T>C n.542T>C c.*1494T>C (n.*1494T>C) c.8435T>C (p.Leu2812Ser) c.2288T>C (p.Leu763Ser) n.481T>C c.8525T>C (p.Leu2842Ser) c.8522T>C (p.Leu2841Ser) c.8303T>C (p.Leu2768Ser) c.6512T>C (p.Leu2171Ser) c.6062T>C (p.Leu2021Ser) c.5270T>C (p.Leu1757Ser) c.8432T>C (p.Leu2811Ser) | |
8 | g.60865374T>G | CA371309347 | CHD7 | n.1611T>G n.542T>G c.*1494T>G (n.*1494T>G) c.8435T>G (p.Leu2812Trp) c.2288T>G (p.Leu763Trp) n.481T>G c.8525T>G (p.Leu2842Trp) c.8522T>G (p.Leu2841Trp) c.8303T>G (p.Leu2768Trp) c.6512T>G (p.Leu2171Trp) c.6062T>G (p.Leu2021Trp) c.5270T>G (p.Leu1757Trp) c.8432T>G (p.Leu2811Trp) | |
8 | g.60865375G>A | CA461106009 | CHD7 | n.1612G>A n.543G>A c.*1495G>A (n.*1495G>A) c.8436G>A (p.Leu2812=) c.2289G>A (p.Leu763=) n.482G>A c.8526G>A (p.Leu2842=) c.8523G>A (p.Leu2841=) c.8304G>A (p.Leu2768=) c.6513G>A (p.Leu2171=) c.6063G>A (p.Leu2021=) c.5271G>A (p.Leu1757=) c.8433G>A (p.Leu2811=) | |
8 | g.60865375G>C | CA371309352 | CHD7 | n.1612G>C n.543G>C c.*1495G>C (n.*1495G>C) c.8436G>C (p.Leu2812Phe) c.2289G>C (p.Leu763Phe) n.482G>C c.8526G>C (p.Leu2842Phe) c.8523G>C (p.Leu2841Phe) c.8304G>C (p.Leu2768Phe) c.6513G>C (p.Leu2171Phe) c.6063G>C (p.Leu2021Phe) c.5271G>C (p.Leu1757Phe) c.8433G>C (p.Leu2811Phe) | gnomAD v4 |
8 | g.60865375G= | CA1788130155 | CHD7 | n.1612G= n.543G= c.*1495G= (n.*1495G=) c.8436G= (p.Leu2812=) c.2289G= (p.Leu763=) n.482G= c.8526G= (p.Leu2842=) c.8523G= (p.Leu2841=) c.8304G= (p.Leu2768=) c.6513G= (p.Leu2171=) c.6063G= (p.Leu2021=) c.5271G= (p.Leu1757=) c.8433G= (p.Leu2811=) | |
8 | g.60865375G>T | CA4761016 | CHD7 | n.1612G>T n.543G>T c.*1495G>T (n.*1495G>T) c.8436G>T (p.Leu2812Phe) c.2289G>T (p.Leu763Phe) n.482G>T c.8526G>T (p.Leu2842Phe) c.8523G>T (p.Leu2841Phe) c.8304G>T (p.Leu2768Phe) c.6513G>T (p.Leu2171Phe) c.6063G>T (p.Leu2021Phe) c.5271G>T (p.Leu1757Phe) c.8433G>T (p.Leu2811Phe) | ClinVar dbSNP ExAC gnomAD v2 |
8 | g.60865376G>A | CA371309360 | CHD7 | n.1613G>A n.544G>A c.*1496G>A (n.*1496G>A) c.8437G>A (p.Gly2813Ser) c.2290G>A (p.Gly764Ser) n.483G>A c.8527G>A (p.Gly2843Ser) c.8524G>A (p.Gly2842Ser) c.8305G>A (p.Gly2769Ser) c.6514G>A (p.Gly2172Ser) c.6064G>A (p.Gly2022Ser) c.5272G>A (p.Gly1758Ser) c.8434G>A (p.Gly2812Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865376G>C | CA371309364 | CHD7 | n.1613G>C n.544G>C c.*1496G>C (n.*1496G>C) c.8437G>C (p.Gly2813Arg) c.2290G>C (p.Gly764Arg) n.483G>C c.8527G>C (p.Gly2843Arg) c.8524G>C (p.Gly2842Arg) c.8305G>C (p.Gly2769Arg) c.6514G>C (p.Gly2172Arg) c.6064G>C (p.Gly2022Arg) c.5272G>C (p.Gly1758Arg) c.8434G>C (p.Gly2812Arg) | |
8 | g.60865376G= | CA1788130161 | CHD7 | n.1613G= n.544G= c.*1496G= (n.*1496G=) c.8437G= (p.Gly2813=) c.2290G= (p.Gly764=) n.483G= c.8527G= (p.Gly2843=) c.8524G= (p.Gly2842=) c.8305G= (p.Gly2769=) c.6514G= (p.Gly2172=) c.6064G= (p.Gly2022=) c.5272G= (p.Gly1758=) c.8434G= (p.Gly2812=) | |
8 | g.60865376G>T | CA371309368 | CHD7 | n.1613G>T n.544G>T c.*1496G>T (n.*1496G>T) c.8437G>T (p.Gly2813Cys) c.2290G>T (p.Gly764Cys) n.483G>T c.8527G>T (p.Gly2843Cys) c.8524G>T (p.Gly2842Cys) c.8305G>T (p.Gly2769Cys) c.6514G>T (p.Gly2172Cys) c.6064G>T (p.Gly2022Cys) c.5272G>T (p.Gly1758Cys) c.8434G>T (p.Gly2812Cys) | |
8 | g.60865377G>A | CA371309382 | CHD7 | n.1614G>A n.545G>A c.*1497G>A (n.*1497G>A) c.8438G>A (p.Gly2813Asp) c.2291G>A (p.Gly764Asp) n.484G>A c.8528G>A (p.Gly2843Asp) c.8525G>A (p.Gly2842Asp) c.8306G>A (p.Gly2769Asp) c.6515G>A (p.Gly2172Asp) c.6065G>A (p.Gly2022Asp) c.5273G>A (p.Gly1758Asp) c.8435G>A (p.Gly2812Asp) | |
8 | g.60865377G>C | CA371309387 | CHD7 | n.1614G>C n.545G>C c.*1497G>C (n.*1497G>C) c.8438G>C (p.Gly2813Ala) c.2291G>C (p.Gly764Ala) n.484G>C c.8528G>C (p.Gly2843Ala) c.8525G>C (p.Gly2842Ala) c.8306G>C (p.Gly2769Ala) c.6515G>C (p.Gly2172Ala) c.6065G>C (p.Gly2022Ala) c.5273G>C (p.Gly1758Ala) c.8435G>C (p.Gly2812Ala) | |
8 | g.60865377G= | CA1788130167 | CHD7 | n.1614G= n.545G= c.*1497G= (n.*1497G=) c.8438G= (p.Gly2813=) c.2291G= (p.Gly764=) n.484G= c.8528G= (p.Gly2843=) c.8525G= (p.Gly2842=) c.8306G= (p.Gly2769=) c.6515G= (p.Gly2172=) c.6065G= (p.Gly2022=) c.5273G= (p.Gly1758=) c.8435G= (p.Gly2812=) | |
8 | g.60865377G>T | CA4761017 | CHD7 | n.1614G>T n.545G>T c.*1497G>T (n.*1497G>T) c.8438G>T (p.Gly2813Val) c.2291G>T (p.Gly764Val) n.484G>T c.8528G>T (p.Gly2843Val) c.8525G>T (p.Gly2842Val) c.8306G>T (p.Gly2769Val) c.6515G>T (p.Gly2172Val) c.6065G>T (p.Gly2022Val) c.5273G>T (p.Gly1758Val) c.8435G>T (p.Gly2812Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865378C>A | CA461106019 | CHD7 | n.1615C>A n.546C>A c.*1498C>A (n.*1498C>A) c.8439C>A (p.Gly2813=) c.2292C>A (p.Gly764=) n.485C>A c.8529C>A (p.Gly2843=) c.8526C>A (p.Gly2842=) c.8307C>A (p.Gly2769=) c.6516C>A (p.Gly2172=) c.6066C>A (p.Gly2022=) c.5274C>A (p.Gly1758=) c.8436C>A (p.Gly2812=) | |
8 | g.60865378C= | CA1788130175 | CHD7 | n.1615C= n.546C= c.*1498C= (n.*1498C=) c.8439C= (p.Gly2813=) c.2292C= (p.Gly764=) n.485C= c.8529C= (p.Gly2843=) c.8526C= (p.Gly2842=) c.8307C= (p.Gly2769=) c.6516C= (p.Gly2172=) c.6066C= (p.Gly2022=) c.5274C= (p.Gly1758=) c.8436C= (p.Gly2812=) | |
8 | g.60865378C>G | CA461106020 | CHD7 | n.1615C>G n.546C>G c.*1498C>G (n.*1498C>G) c.8439C>G (p.Gly2813=) c.2292C>G (p.Gly764=) n.485C>G c.8529C>G (p.Gly2843=) c.8526C>G (p.Gly2842=) c.8307C>G (p.Gly2769=) c.6516C>G (p.Gly2172=) c.6066C>G (p.Gly2022=) c.5274C>G (p.Gly1758=) c.8436C>G (p.Gly2812=) | ClinVar dbSNP |
8 | g.60865378C>T | CA148891 | CHD7 | n.1615C>T n.546C>T c.*1498C>T (n.*1498C>T) c.8439C>T (p.Gly2813=) c.2292C>T (p.Gly764=) n.485C>T c.8529C>T (p.Gly2843=) c.8526C>T (p.Gly2842=) c.8307C>T (p.Gly2769=) c.6516C>T (p.Gly2172=) c.6066C>T (p.Gly2022=) c.5274C>T (p.Gly1758=) c.8436C>T (p.Gly2812=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865379G>A | CA177329554 | CHD7 | n.1616G>A n.547G>A c.*1499G>A (n.*1499G>A) c.8440G>A (p.Gly2814Arg) c.2293G>A (p.Gly765Arg) n.486G>A c.8530G>A (p.Gly2844Arg) c.8527G>A (p.Gly2843Arg) c.8308G>A (p.Gly2770Arg) c.6517G>A (p.Gly2173Arg) c.6067G>A (p.Gly2023Arg) c.5275G>A (p.Gly1759Arg) c.8437G>A (p.Gly2813Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865379G>C | CA371309402 | CHD7 | n.1616G>C n.547G>C c.*1499G>C (n.*1499G>C) c.8440G>C (p.Gly2814Arg) c.2293G>C (p.Gly765Arg) n.486G>C c.8530G>C (p.Gly2844Arg) c.8527G>C (p.Gly2843Arg) c.8308G>C (p.Gly2770Arg) c.6517G>C (p.Gly2173Arg) c.6067G>C (p.Gly2023Arg) c.5275G>C (p.Gly1759Arg) c.8437G>C (p.Gly2813Arg) | |
8 | g.60865379G= | CA1788130186 | CHD7 | n.1616G= n.547G= c.*1499G= (n.*1499G=) c.8440G= (p.Gly2814=) c.2293G= (p.Gly765=) n.486G= c.8530G= (p.Gly2844=) c.8527G= (p.Gly2843=) c.8308G= (p.Gly2770=) c.6517G= (p.Gly2173=) c.6067G= (p.Gly2023=) c.5275G= (p.Gly1759=) c.8437G= (p.Gly2813=) | |
8 | g.60865379G>T | CA371309396 | CHD7 | n.1616G>T n.547G>T c.*1499G>T (n.*1499G>T) c.8440G>T (p.Gly2814Trp) c.2293G>T (p.Gly765Trp) n.486G>T c.8530G>T (p.Gly2844Trp) c.8527G>T (p.Gly2843Trp) c.8308G>T (p.Gly2770Trp) c.6517G>T (p.Gly2173Trp) c.6067G>T (p.Gly2023Trp) c.5275G>T (p.Gly1759Trp) c.8437G>T (p.Gly2813Trp) | |
8 | g.60865381del | CA2579174038 | CHD7 | n.1618del n.549del c.*1501del (n.*1501del) c.8442del (p.Leu2815CysfsTer2) c.2295del (p.Leu766CysfsTer2) n.488del c.8532del (p.Leu2845CysfsTer2) c.8529del (p.Leu2844CysfsTer2) c.8310del (p.Leu2771CysfsTer2) c.6519del (p.Leu2174CysfsTer2) c.6069del (p.Leu2024CysfsTer2) c.5277del (p.Leu1760CysfsTer2) c.8439del (p.Leu2814CysfsTer2) | |
8 | g.60865380G>A | CA371309412 | CHD7 | n.1617G>A n.548G>A c.*1500G>A (n.*1500G>A) c.8441G>A (p.Gly2814Glu) c.2294G>A (p.Gly765Glu) n.487G>A c.8531G>A (p.Gly2844Glu) c.8528G>A (p.Gly2843Glu) c.8309G>A (p.Gly2770Glu) c.6518G>A (p.Gly2173Glu) c.6068G>A (p.Gly2023Glu) c.5276G>A (p.Gly1759Glu) c.8438G>A (p.Gly2813Glu) | |
8 | g.60865380G>C | CA371309415 | CHD7 | n.1617G>C n.548G>C c.*1500G>C (n.*1500G>C) c.8441G>C (p.Gly2814Ala) c.2294G>C (p.Gly765Ala) n.487G>C c.8531G>C (p.Gly2844Ala) c.8528G>C (p.Gly2843Ala) c.8309G>C (p.Gly2770Ala) c.6518G>C (p.Gly2173Ala) c.6068G>C (p.Gly2023Ala) c.5276G>C (p.Gly1759Ala) c.8438G>C (p.Gly2813Ala) | |
8 | g.60865380G>T | CA371309422 | CHD7 | n.1617G>T n.548G>T c.*1500G>T (n.*1500G>T) c.8441G>T (p.Gly2814Val) c.2294G>T (p.Gly765Val) n.487G>T c.8531G>T (p.Gly2844Val) c.8528G>T (p.Gly2843Val) c.8309G>T (p.Gly2770Val) c.6518G>T (p.Gly2173Val) c.6068G>T (p.Gly2023Val) c.5276G>T (p.Gly1759Val) c.8438G>T (p.Gly2813Val) |