Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60865290C>ACA371308596CHD7n.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)
8g.60865290C>GCA371308600CHD7n.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)
8g.60865290C>TCA371308603CHD7n.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)
8g.60865291C>ACA4760993CHD7n.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
8g.60865291C=CA1788129774CHD7n.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=)
8g.60865291C>GCA461105910CHD7n.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=)
8g.60865291C>TCA4760992CHD7n.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
8g.60865292G>ACA371308615CHD7n.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
8g.60865292G>CCA371308618CHD7n.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
8g.60865292G=CA1788129779CHD7n.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=)
8g.60865292G>TCA177329345CHD7n.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
8g.60865293C>ACA371308624CHD7n.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)
8g.60865293C>GCA371308626CHD7n.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)
8g.60865293C>TCA371308630CHD7n.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)
8g.60865294C>ACA461105911CHD7n.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=)
8g.60865294C=CA1788129791CHD7n.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=)
8g.60865294C>GCA461105912CHD7n.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=)
8g.60865294C>TCA4760994CHD7n.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
8g.60865295G>ACA249169CHD7n.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
8g.60865295G>CCA371308638CHD7n.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)
8g.60865295G=CA1788129799CHD7n.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=)
8g.60865295G>TCA371308641CHD7n.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)
8g.60865296G>ACA371308645CHD7n.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)
8g.60865296G>CCA371308648CHD7n.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)
8g.60865296G>TCA371308650CHD7n.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)
8g.60865297A>CCA461105913CHD7n.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=)
8g.60865297A>GCA461105914CHD7n.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=)
8g.60865297A>TCA461105915CHD7n.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=)
8g.60865298G>ACA4760995CHD7n.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
8g.60865298G>CCA371308656CHD7n.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)
8g.60865298G=CA1788129814CHD7n.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=)
8g.60865298G>TCA371308659CHD7n.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)
8g.60865299delCA2573143276CHD7n.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
8g.60865299G>ACA371308664CHD7n.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
8g.60865299G>CCA371308667CHD7n.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
8g.60865299G>TCA371308670CHD7n.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)
8g.60865300C>ACA461105916CHD7n.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
8g.60865300C=CA1788129822CHD7n.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=)
8g.60865300C>GCA461105917CHD7n.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
8g.60865300C>TCA4760996CHD7n.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
8g.60865301G>ACA4760997CHD7n.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
8g.60865301G>CCA371308681CHD7n.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
8g.60865301G=CA1788129834CHD7n.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=)
8g.60865301G>TCA371308677CHD7n.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
8g.60865302A>CCA371308691CHD7n.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)
8g.60865302A>GCA371308684CHD7n.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)
8g.60865302A>TCA371308688CHD7n.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)
8g.60865303T>ACA371308694CHD7n.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)
8g.60865303T>CCA10631391CHD7n.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
8g.60865303T>GCA371308701CHD7n.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)
8g.60865303T=CA1788129850CHD7n.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=)
8g.60865304G>ACA4760998CHD7n.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
8g.60865304G>CCA371308713CHD7n.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)
8g.60865304G=CA1788129859CHD7n.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=)
8g.60865304G>TCA371308717CHD7n.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)
8g.60865305C>ACA371308721CHD7n.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)
8g.60865305C=CA1788129869CHD7n.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=)
8g.60865305C>GCA4760999CHD7n.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
8g.60865305C>TCA244940CHD7n.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
8g.60865306G>ACA4761000CHD7n.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
8g.60865306G>CCA461105918CHD7n.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=)
8g.60865306G=CA1788129878CHD7n.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=)
8g.60865306G>TCA461105919CHD7n.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
8g.60865307A>CCA371308740CHD7n.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)
8g.60865307A>GCA371308738CHD7n.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
8g.60865307A>TCA371308734CHD7n.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)
8g.60865308A>CCA371308744CHD7n.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)
8g.60865308A>GCA371308758CHD7n.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)
8g.60865308A>TCA371308763CHD7n.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)
8g.60865309G>ACA461105920CHD7n.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=)
8g.60865309G>CCA371308767CHD7n.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)
8g.60865309G>TCA371308770CHD7n.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)
8g.60865310A=CA1788129888CHD7n.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=)
8g.60865310A>CCA371308780CHD7n.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)
8g.60865310A>GCA371308786CHD7n.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
8g.60865310A>TCA371308788CHD7n.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
8g.60865311A=CA1788129899CHD7n.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=)
8g.60865311A>CCA371308794CHD7n.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
8g.60865311A>GCA371308801CHD7n.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
8g.60865311A>TCA371308804CHD7n.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)
8g.60865312C>ACA371308810CHD7n.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)
8g.60865312C>GCA371308812CHD7n.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)
8g.60865312C>TCA461105921CHD7n.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=)
8g.60865313C>ACA371308827CHD7n.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)
8g.60865313C>GCA371308821CHD7n.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)
8g.60865313C>TCA371308817CHD7n.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)
8g.60865314C>ACA371308832CHD7n.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)
8g.60865314C=CA1788129909CHD7n.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=)
8g.60865314C>GCA371308829CHD7n.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
8g.60865314C>TCA371308830CHD7n.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)
8g.60865315T>ACA461105924CHD7n.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=)
8g.60865315T>CCA461105923CHD7n.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=)
8g.60865315T>GCA461105922CHD7n.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=)
8g.60865316G>ACA371308835CHD7n.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
8g.60865316G>CCA371308837CHD7n.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)
8g.60865316G=CA1788129917CHD7n.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=)
8g.60865316G>TCA371308839CHD7n.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)
8g.60865317C>ACA371308842CHD7n.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)
8g.60865317C=CA1788129934CHD7n.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=)
8g.60865317C>GCA177329387CHD7n.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
8g.60865317C>TCA371308846CHD7n.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
8g.60865318T>ACA461105925CHD7n.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=)
8g.60865318T>CCA461105926CHD7n.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=)
8g.60865318T>GCA461105927CHD7n.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
8g.60865319G>ACA371308849CHD7n.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)
8g.60865319G>CCA371308850CHD7n.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)
8g.60865319G=CA1788129944CHD7n.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=)
8g.60865319G>TCA4761001CHD7n.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
8g.60865320C>ACA371308853CHD7n.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)
8g.60865320C=CA1788129949CHD7n.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=)
8g.60865320C>GCA371308855CHD7n.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)
8g.60865320C>TCA371308857CHD7n.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
8g.60865321T>ACA461105928CHD7n.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
8g.60865321T>CCA4761002CHD7n.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
8g.60865321T>GCA461105929CHD7n.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=)
8g.60865321T=CA1788129955CHD7n.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=)
8g.60865322G>ACA177329414CHD7n.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
8g.60865322G>CCA177329415CHD7n.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
8g.60865322G=CA1788129960CHD7n.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=)
8g.60865322G>TCA371308865CHD7n.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)
8g.60865323T>ACA371308868CHD7n.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)
8g.60865323T>CCA371308871CHD7n.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)
8g.60865323T>GCA371308873CHD7n.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)
8g.60865324G>ACA461105930CHD7n.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
8g.60865324G>CCA461105931CHD7n.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=)
8g.60865324G>TCA461105932CHD7n.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=)
8g.60865325C>ACA371308876CHD7n.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
8g.60865325C>GCA371308884CHD7n.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)
8g.60865325C>TCA461105933CHD7n.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
8g.60865326T>ACA371308887CHD7n.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
8g.60865326T>CCA371308890CHD7n.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)
8g.60865326T>GCA371308892CHD7n.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)
8g.60865327G>ACA461105934CHD7n.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=)
8g.60865327G>CCA461105935CHD7n.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=)
8g.60865327G>TCA461105936CHD7n.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
8g.60865328C>ACA371308897CHD7n.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)
8g.60865328C=CA1788129964CHD7n.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=)
8g.60865328C>GCA371308904CHD7n.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)
8g.60865328C>TCA4761003CHD7n.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
8g.60865329C>ACA4761004CHD7n.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
8g.60865329C=CA1788129969CHD7n.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=)
8g.60865329C>GCA371308915CHD7n.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
8g.60865329C>TCA371308913CHD7n.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
8g.60865330C>ACA461105939CHD7n.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=)
8g.60865330C=CA1788129974CHD7n.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=)
8g.60865330C>GCA461105938CHD7n.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
8g.60865330C>TCA461105937CHD7n.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
8g.60865331C>ACA371308916CHD7n.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)
8g.60865331C=CA1788129980CHD7n.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=)
8g.60865331C>GCA371308917CHD7n.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)
8g.60865331C>TCA461105940CHD7n.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
8g.60865331_60865332delinsCTCA1788129981CHD7n.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=)
8g.60865332delCA1788129983CHD7n.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
8g.60865332T>ACA371308918CHD7n.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)
8g.60865332T>CCA4761005CHD7n.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
8g.60865332T>GCA371308922CHD7n.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)
8g.60865332T=CA1788129984CHD7n.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=)
8g.60865333G>ACA461105943CHD7n.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=)
8g.60865333G>CCA461105942CHD7n.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=)
8g.60865333G>TCA461105941CHD7n.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=)
8g.60865334A>CCA371308924CHD7n.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)
8g.60865334A>GCA371308926CHD7n.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)
8g.60865334A>TCA371308928CHD7n.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)
8g.60865335T>ACA371308932CHD7n.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
8g.60865335T>CCA371308934CHD7n.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)
8g.60865335T>GCA371308936CHD7n.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)
8g.60865336G>ACA371308938CHD7n.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
8g.60865336G>CCA371308940CHD7n.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)
8g.60865336G>TCA371308943CHD7n.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)
8g.60865336dupCA2780535750CHD7n.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)
8g.60865337C>ACA371308947CHD7n.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)
8g.60865337C=CA1788129988CHD7n.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=)
8g.60865337C>GCA371308946CHD7n.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)
8g.60865337C>TCA461105944CHD7n.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
8g.60865338T>ACA371308948CHD7n.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)
8g.60865338T>CCA371308950CHD7n.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
8g.60865338T>GCA371308951CHD7n.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)
8g.60865339G>ACA461105945CHD7n.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
8g.60865339G>CCA461105946CHD7n.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=)
8g.60865339G>TCA461105947CHD7n.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=)
8g.60865340C>ACA371308954CHD7n.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)
8g.60865340C>GCA371308956CHD7n.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
8g.60865340C>TCA371308961CHD7n.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)
8g.60865341C>ACA371308966CHD7n.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)
8g.60865341C>GCA371308975CHD7n.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)
8g.60865341C>TCA371308987CHD7n.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)
8g.60865342A>CCA461105948CHD7n.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=)
8g.60865342A>GCA461105949CHD7n.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=)
8g.60865342A>TCA461105950CHD7n.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=)
8g.60865343G>ACA177329427CHD7n.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
8g.60865343G>CCA371308990CHD7n.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)
8g.60865343G=CA1788129992CHD7n.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=)
8g.60865343G>TCA371309002CHD7n.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)
8g.60865344G>ACA371309012CHD7n.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
8g.60865344G>CCA371309020CHD7n.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)
8g.60865344G=CA1788129996CHD7n.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=)
8g.60865344G>TCA371309008CHD7n.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)
8g.60865345A=CA1788129997CHD7n.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=)
8g.60865345A>CCA461105951CHD7n.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=)
8g.60865345A>GCA461105952CHD7n.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
8g.60865345A>TCA461105953CHD7n.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=)
8g.60865346A>CCA371309024CHD7n.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)
8g.60865346A>GCA371309027CHD7n.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
8g.60865346A>TCA371309029CHD7n.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)
8g.60865347T>ACA371309033CHD7n.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)
8g.60865347T>CCA371309034CHD7n.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)
8g.60865347T>GCA371309036CHD7n.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)
8g.60865348G>ACA371309041CHD7n.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)
8g.60865348G>CCA371309047CHD7n.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)
8g.60865348G>TCA371309051CHD7n.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)
8g.60865349G>ACA177329439CHD7n.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
8g.60865349G>CCA371309057CHD7n.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)
8g.60865349G=CA1788130001CHD7n.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=)
8g.60865349G>TCA371309058CHD7n.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)
8g.60865350C>ACA371309061CHD7n.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)
8g.60865350C=CA1788130006CHD7n.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=)
8g.60865350C>GCA371309063CHD7n.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)
8g.60865350C>TCA4761006CHD7n.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
8g.60865351G>ACA4761007CHD7n.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
8g.60865351G>CCA461105955CHD7n.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
8g.60865351G=CA1788130026CHD7n.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=)
8g.60865351G>TCA461105954CHD7n.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
8g.60865353dupCA371309065CHD7n.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
8g.60865352G>ACA4761008CHD7n.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
8g.60865352G>CCA371309074CHD7n.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)
8g.60865352G=CA1788130036CHD7n.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=)
8g.60865352G>TCA371309076CHD7n.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
8g.60865353G>ACA371309090CHD7n.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
8g.60865353G>CCA371309079CHD7n.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)
8g.60865353G>TCA371309087CHD7n.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)
8g.60865354C>ACA461105959CHD7n.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=)
8g.60865354C=CA1788130046CHD7n.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=)
8g.60865354C>GCA461105960CHD7n.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
8g.60865354C>TCA177329461CHD7n.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
8g.60865355delCA2739268821CHD7n.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
8g.60865355C>ACA371309102CHD7n.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)
8g.60865355C=CA1788130053CHD7n.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=)
8g.60865355C>GCA171767CHD7n.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
8g.60865355C>TCA461105965CHD7n.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=)
8g.60865356T>ACA371309107CHD7n.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)
8g.60865356T>CCA371309109CHD7n.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)
8g.60865356T>GCA371309111CHD7n.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)
8g.60865357G>ACA461105973CHD7n.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=)
8g.60865357G>CCA4761009CHD7n.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
8g.60865357G=CA1788130064CHD7n.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=)
8g.60865357G>TCA461105971CHD7n.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
8g.60865358C>ACA371309135CHD7n.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)
8g.60865358C=CA1788130075CHD7n.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=)
8g.60865358C>GCA371309122CHD7n.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
8g.60865358C>TCA371309143CHD7n.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
8g.60865359C>ACA371309146CHD7n.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)
8g.60865359C=CA1788130082CHD7n.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=)
8g.60865359C>GCA371309151CHD7n.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)
8g.60865359C>TCA371309148CHD7n.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
8g.60865360C>ACA461105977CHD7n.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=)
8g.60865360C=CA1788130087CHD7n.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=)
8g.60865360C>GCA461105979CHD7n.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=)
8g.60865360C>TCA4761010CHD7n.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
8g.60865361A=CA1788130089CHD7n.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=)
8g.60865361A>CCA177329489CHD7n.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
8g.60865361A>GCA371309160CHD7n.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)
8g.60865361A>TCA371309172CHD7n.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)
8g.60865362A=CA1788130095CHD7n.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=)
8g.60865362A>CCA371309178CHD7n.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
8g.60865362A>GCA4761011CHD7n.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
8g.60865362A>TCA371309195CHD7n.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)
8g.60865363C>ACA371309200CHD7n.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
8g.60865363C=CA1788130107CHD7n.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=)
8g.60865363C>GCA371309204CHD7n.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)
8g.60865363C>TCA4761012CHD7n.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
8g.60865364G>ACA4761013CHD7n.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
8g.60865364G>CCA371309226CHD7n.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
8g.60865364G=CA1788130120CHD7n.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=)
8g.60865364G>TCA371309255CHD7n.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)
8g.60865365T>ACA371309260CHD7n.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)
8g.60865365T>CCA371309261CHD7n.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)
8g.60865365T>GCA371309263CHD7n.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)
8g.60865366G>ACA461105991CHD7n.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
8g.60865366G>CCA461105992CHD7n.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=)
8g.60865366G=CA1788130131CHD7n.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=)
8g.60865366G>TCA461105993CHD7n.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=)
8g.60865367T>ACA4761014CHD7n.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
8g.60865367T>CCA371309267CHD7n.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)
8g.60865367T>GCA371309271CHD7n.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)
8g.60865367T=CA1788130143CHD7n.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=)
8g.60865368T>ACA371309275CHD7n.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)
8g.60865368T>CCA371309277CHD7n.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)
8g.60865368T>GCA371309279CHD7n.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
8g.60865368T=CA1788130147CHD7n.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=)
8g.60865369T>ACA371309282CHD7n.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)
8g.60865369T>CCA461105996CHD7n.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=)
8g.60865369T>GCA371309284CHD7n.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)
8g.60865370G>ACA4761015CHD7n.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
8g.60865370G>CCA371309289CHD7n.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)
8g.60865370G=CA1788130150CHD7n.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=)
8g.60865370G>TCA371309293CHD7n.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)
8g.60865371G>ACA371309304CHD7n.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
8g.60865371G>CCA371309309CHD7n.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)
8g.60865371G>TCA371309323CHD7n.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
8g.60865372C>ACA461106000CHD7n.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
8g.60865372C>GCA461106001CHD7n.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=)
8g.60865372C>TCA461106002CHD7n.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
8g.60865373T>ACA371309334CHD7n.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)
8g.60865373T>CCA461106003CHD7n.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=)
8g.60865373T>GCA371309329CHD7n.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)
8g.60865374T>ACA371309340CHD7n.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)
8g.60865374T>CCA371309342CHD7n.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)
8g.60865374T>GCA371309347CHD7n.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)
8g.60865375G>ACA461106009CHD7n.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=)
8g.60865375G>CCA371309352CHD7n.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
8g.60865375G=CA1788130155CHD7n.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=)
8g.60865375G>TCA4761016CHD7n.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
8g.60865376G>ACA371309360CHD7n.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
8g.60865376G>CCA371309364CHD7n.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)
8g.60865376G=CA1788130161CHD7n.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=)
8g.60865376G>TCA371309368CHD7n.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)
8g.60865377G>ACA371309382CHD7n.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)
8g.60865377G>CCA371309387CHD7n.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)
8g.60865377G=CA1788130167CHD7n.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=)
8g.60865377G>TCA4761017CHD7n.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
8g.60865378C>ACA461106019CHD7n.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=)
8g.60865378C=CA1788130175CHD7n.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=)
8g.60865378C>GCA461106020CHD7n.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
8g.60865378C>TCA148891CHD7n.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
8g.60865379G>ACA177329554CHD7n.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
8g.60865379G>CCA371309402CHD7n.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)
8g.60865379G=CA1788130186CHD7n.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=)
8g.60865379G>TCA371309396CHD7n.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)
8g.60865381delCA2579174038CHD7n.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)
8g.60865380G>ACA371309412CHD7n.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)
8g.60865380G>CCA371309415CHD7n.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)
8g.60865380G>TCA371309422CHD7n.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)
8g.60865381G>ACA4761018CHD7n.1618G>A
n.549G>A
c.*1501G>A (n.*1501G>A)
c.8442G>A (p.Gly2814=)
c.2295G>A (p.Gly765=)
n.488G>A
c.8532G>A (p.Gly2844=)
c.8529G>A (p.Gly2843=)
c.8310G>A (p.Gly2770=)
c.6519G>A (p.Gly2173=)
c.6069G>A (p.Gly2023=)
c.5277G>A (p.Gly1759=)
c.8439G>A (p.Gly2813=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60865381G>CCA461106024CHD7n.1618G>C
n.549G>C
c.*1501G>C (n.*1501G>C)
c.8442G>C (p.Gly2814=)
c.2295G>C (p.Gly765=)
n.488G>C
c.8532G>C (p.Gly2844=)
c.8529G>C (p.Gly2843=)
c.8310G>C (p.Gly2770=)
c.6519G>C (p.Gly2173=)
c.6069G>C (p.Gly2023=)
c.5277G>C (p.Gly1759=)
c.8439G>C (p.Gly2813=)
8g.60865381G=CA1788130191CHD7n.1618G=
n.549G=
c.*1501G= (n.*1501G=)
c.8442G= (p.Gly2814=)
c.2295G= (p.Gly765=)
n.488G=
c.8532G= (p.Gly2844=)
c.8529G= (p.Gly2843=)
c.8310G= (p.Gly2770=)
c.6519G= (p.Gly2173=)
c.6069G= (p.Gly2023=)
c.5277G= (p.Gly1759=)
c.8439G= (p.Gly2813=)
8g.60865381G>TCA461106026CHD7n.1618G>T
n.549G>T
c.*1501G>T (n.*1501G>T)
c.8442G>T (p.Gly2814=)
c.2295G>T (p.Gly765=)
n.488G>T
c.8532G>T (p.Gly2844=)
c.8529G>T (p.Gly2843=)
c.8310G>T (p.Gly2770=)
c.6519G>T (p.Gly2173=)
c.6069G>T (p.Gly2023=)
c.5277G>T (p.Gly1759=)
c.8439G>T (p.Gly2813=)
8g.60865382C>ACA371309429CHD7n.1619C>A
n.550C>A
c.*1502C>A (n.*1502C>A)
c.8443C>A (p.Leu2815Met)
c.2296C>A (p.Leu766Met)
n.489C>A
c.8533C>A (p.Leu2845Met)
c.8530C>A (p.Leu2844Met)
c.8311C>A (p.Leu2771Met)
c.6520C>A (p.Leu2174Met)
c.6070C>A (p.Leu2024Met)
c.5278C>A (p.Leu1760Met)
c.8440C>A (p.Leu2814Met)
8g.60865382C>GCA371309430CHD7n.1619C>G
n.550C>G
c.*1502C>G (n.*1502C>G)
c.8443C>G (p.Leu2815Val)
c.2296C>G (p.Leu766Val)
n.489C>G
c.8533C>G (p.Leu2845Val)
c.8530C>G (p.Leu2844Val)
c.8311C>G (p.Leu2771Val)
c.6520C>G (p.Leu2174Val)
c.6070C>G (p.Leu2024Val)
c.5278C>G (p.Leu1760Val)
c.8440C>G (p.Leu2814Val)
8g.60865382C>TCA461106029CHD7n.1619C>T
n.550C>T
c.*1502C>T (n.*1502C>T)
c.8443C>T (p.Leu2815=)
c.2296C>T (p.Leu766=)
n.489C>T
c.8533C>T (p.Leu2845=)
c.8530C>T (p.Leu2844=)
c.8311C>T (p.Leu2771=)
c.6520C>T (p.Leu2174=)
c.6070C>T (p.Leu2024=)
c.5278C>T (p.Leu1760=)
c.8440C>T (p.Leu2814=)
 gnomAD v4
8g.60865383T>ACA371309434CHD7n.1620T>A
n.551T>A
c.*1503T>A (n.*1503T>A)
c.8444T>A (p.Leu2815Gln)
c.2297T>A (p.Leu766Gln)
n.490T>A
c.8534T>A (p.Leu2845Gln)
c.8531T>A (p.Leu2844Gln)
c.8312T>A (p.Leu2771Gln)
c.6521T>A (p.Leu2174Gln)
c.6071T>A (p.Leu2024Gln)
c.5279T>A (p.Leu1760Gln)
c.8441T>A (p.Leu2814Gln)
8g.60865383T>CCA371309439CHD7n.1620T>C
n.551T>C
c.*1503T>C (n.*1503T>C)
c.8444T>C (p.Leu2815Pro)
c.2297T>C (p.Leu766Pro)
n.490T>C
c.8534T>C (p.Leu2845Pro)
c.8531T>C (p.Leu2844Pro)
c.8312T>C (p.Leu2771Pro)
c.6521T>C (p.Leu2174Pro)
c.6071T>C (p.Leu2024Pro)
c.5279T>C (p.Leu1760Pro)
c.8441T>C (p.Leu2814Pro)
8g.60865383T>GCA371309443CHD7n.1620T>G
n.551T>G
c.*1503T>G (n.*1503T>G)
c.8444T>G (p.Leu2815Arg)
c.2297T>G (p.Leu766Arg)
n.490T>G
c.8534T>G (p.Leu2845Arg)
c.8531T>G (p.Leu2844Arg)
c.8312T>G (p.Leu2771Arg)
c.6521T>G (p.Leu2174Arg)
c.6071T>G (p.Leu2024Arg)
c.5279T>G (p.Leu1760Arg)
c.8441T>G (p.Leu2814Arg)
8g.60865384G>ACA461106032CHD7n.1621G>A
n.552G>A
c.*1504G>A (n.*1504G>A)
c.8445G>A (p.Leu2815=)
c.2298G>A (p.Leu766=)
n.491G>A
c.8535G>A (p.Leu2845=)
c.8532G>A (p.Leu2844=)
c.8313G>A (p.Leu2771=)
c.6522G>A (p.Leu2174=)
c.6072G>A (p.Leu2024=)
c.5280G>A (p.Leu1760=)
c.8442G>A (p.Leu2814=)
8g.60865384G>CCA461106033CHD7n.1621G>C
n.552G>C
c.*1504G>C (n.*1504G>C)
c.8445G>C (p.Leu2815=)
c.2298G>C (p.Leu766=)
n.491G>C
c.8535G>C (p.Leu2845=)
c.8532G>C (p.Leu2844=)
c.8313G>C (p.Leu2771=)
c.6522G>C (p.Leu2174=)
c.6072G>C (p.Leu2024=)
c.5280G>C (p.Leu1760=)
c.8442G>C (p.Leu2814=)
8g.60865384G>TCA461106035CHD7n.1621G>T
n.552G>T
c.*1504G>T (n.*1504G>T)
c.8445G>T (p.Leu2815=)
c.2298G>T (p.Leu766=)
n.491G>T
c.8535G>T (p.Leu2845=)
c.8532G>T (p.Leu2844=)
c.8313G>T (p.Leu2771=)
c.6522G>T (p.Leu2174=)
c.6072G>T (p.Leu2024=)
c.5280G>T (p.Leu1760=)
c.8442G>T (p.Leu2814=)
8g.60865385T>ACA371309459CHD7n.1622T>A
n.553T>A
c.*1505T>A (n.*1505T>A)
c.8446T>A (p.Leu2816Met)
c.2299T>A (p.Leu767Met)
n.492T>A
c.8536T>A (p.Leu2846Met)
c.8533T>A (p.Leu2845Met)
c.8314T>A (p.Leu2772Met)
c.6523T>A (p.Leu2175Met)
c.6073T>A (p.Leu2025Met)
c.5281T>A (p.Leu1761Met)
c.8443T>A (p.Leu2815Met)
8g.60865385T>CCA244937CHD7n.1622T>C
n.553T>C
c.*1505T>C (n.*1505T>C)
c.8446T>C (p.Leu2816=)
c.2299T>C (p.Leu767=)
n.492T>C
c.8536T>C (p.Leu2846=)
c.8533T>C (p.Leu2845=)
c.8314T>C (p.Leu2772=)
c.6523T>C (p.Leu2175=)
c.6073T>C (p.Leu2025=)
c.5281T>C (p.Leu1761=)
c.8443T>C (p.Leu2815=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60865385T>GCA371309463CHD7n.1622T>G
n.553T>G
c.*1505T>G (n.*1505T>G)
c.8446T>G (p.Leu2816Val)
c.2299T>G (p.Leu767Val)
n.492T>G
c.8536T>G (p.Leu2846Val)
c.8533T>G (p.Leu2845Val)
c.8314T>G (p.Leu2772Val)
c.6523T>G (p.Leu2175Val)
c.6073T>G (p.Leu2025Val)
c.5281T>G (p.Leu1761Val)
c.8443T>G (p.Leu2815Val)
8g.60865385T=CA1788130203CHD7n.1622T=
n.553T=
c.*1505T= (n.*1505T=)
c.8446T= (p.Leu2816=)
c.2299T= (p.Leu767=)
n.492T=
c.8536T= (p.Leu2846=)
c.8533T= (p.Leu2845=)
c.8314T= (p.Leu2772=)
c.6523T= (p.Leu2175=)
c.6073T= (p.Leu2025=)
c.5281T= (p.Leu1761=)
c.8443T= (p.Leu2815=)
8g.60865386T>ACA371309477CHD7n.1623T>A
n.554T>A
c.*1506T>A (n.*1506T>A)
c.8447T>A (p.Leu2816Ter)
c.2300T>A (p.Leu767Ter)
n.493T>A
c.8537T>A (p.Leu2846Ter)
c.8534T>A (p.Leu2845Ter)
c.8315T>A (p.Leu2772Ter)
c.6524T>A (p.Leu2175Ter)
c.6074T>A (p.Leu2025Ter)
c.5282T>A (p.Leu1761Ter)
c.8444T>A (p.Leu2815Ter)
8g.60865386T>CCA371309472CHD7n.1623T>C
n.554T>C
c.*1506T>C (n.*1506T>C)
c.8447T>C (p.Leu2816Ser)
c.2300T>C (p.Leu767Ser)
n.493T>C
c.8537T>C (p.Leu2846Ser)
c.8534T>C (p.Leu2845Ser)
c.8315T>C (p.Leu2772Ser)
c.6524T>C (p.Leu2175Ser)
c.6074T>C (p.Leu2025Ser)
c.5282T>C (p.Leu1761Ser)
c.8444T>C (p.Leu2815Ser)
8g.60865386T>GCA371309468CHD7n.1623T>G
n.554T>G
c.*1506T>G (n.*1506T>G)
c.8447T>G (p.Leu2816Trp)
c.2300T>G (p.Leu767Trp)
n.493T>G
c.8537T>G (p.Leu2846Trp)
c.8534T>G (p.Leu2845Trp)
c.8315T>G (p.Leu2772Trp)
c.6524T>G (p.Leu2175Trp)
c.6074T>G (p.Leu2025Trp)
c.5282T>G (p.Leu1761Trp)
c.8444T>G (p.Leu2815Trp)
8g.60865387G>ACA461106040CHD7n.1624G>A
n.555G>A
c.*1507G>A (n.*1507G>A)
c.8448G>A (p.Leu2816=)
c.2301G>A (p.Leu767=)
n.494G>A
c.8538G>A (p.Leu2846=)
c.8535G>A (p.Leu2845=)
c.8316G>A (p.Leu2772=)
c.6525G>A (p.Leu2175=)
c.6075G>A (p.Leu2025=)
c.5283G>A (p.Leu1761=)
c.8445G>A (p.Leu2815=)
8g.60865387G>CCA371309482CHD7n.1624G>C
n.555G>C
c.*1507G>C (n.*1507G>C)
c.8448G>C (p.Leu2816Phe)
c.2301G>C (p.Leu767Phe)
n.494G>C
c.8538G>C (p.Leu2846Phe)
c.8535G>C (p.Leu2845Phe)
c.8316G>C (p.Leu2772Phe)
c.6525G>C (p.Leu2175Phe)
c.6075G>C (p.Leu2025Phe)
c.5283G>C (p.Leu1761Phe)
c.8445G>C (p.Leu2815Phe)
8g.60865387G>TCA371309485CHD7n.1624G>T
n.555G>T
c.*1507G>T (n.*1507G>T)
c.8448G>T (p.Leu2816Phe)
c.2301G>T (p.Leu767Phe)
n.494G>T
c.8538G>T (p.Leu2846Phe)
c.8535G>T (p.Leu2845Phe)
c.8316G>T (p.Leu2772Phe)
c.6525G>T (p.Leu2175Phe)
c.6075G>T (p.Leu2025Phe)
c.5283G>T (p.Leu1761Phe)
c.8445G>T (p.Leu2815Phe)
8g.60865388A>CCA371309490CHD7n.1625A>C
n.556A>C
c.*1508A>C (n.*1508A>C)
c.8449A>C (p.Asn2817His)
c.2302A>C (p.Asn768His)
n.495A>C
c.8539A>C (p.Asn2847His)
c.8536A>C (p.Asn2846His)
c.8317A>C (p.Asn2773His)
c.6526A>C (p.Asn2176His)
c.6076A>C (p.Asn2026His)
c.5284A>C (p.Asn1762His)
c.8446A>C (p.Asn2816His)
8g.60865388A>GCA371309494CHD7n.1625A>G
n.556A>G
c.*1508A>G (n.*1508A>G)
c.8449A>G (p.Asn2817Asp)
c.2302A>G (p.Asn768Asp)
n.495A>G
c.8539A>G (p.Asn2847Asp)
c.8536A>G (p.Asn2846Asp)
c.8317A>G (p.Asn2773Asp)
c.6526A>G (p.Asn2176Asp)
c.6076A>G (p.Asn2026Asp)
c.5284A>G (p.Asn1762Asp)
c.8446A>G (p.Asn2816Asp)
8g.60865388A>TCA371309500CHD7n.1625A>T
n.556A>T
c.*1508A>T (n.*1508A>T)
c.8449A>T (p.Asn2817Tyr)
c.2302A>T (p.Asn768Tyr)
n.495A>T
c.8539A>T (p.Asn2847Tyr)
c.8536A>T (p.Asn2846Tyr)
c.8317A>T (p.Asn2773Tyr)
c.6526A>T (p.Asn2176Tyr)
c.6076A>T (p.Asn2026Tyr)
c.5284A>T (p.Asn1762Tyr)
c.8446A>T (p.Asn2816Tyr)
8g.60865389A>CCA371309506CHD7n.1626A>C
n.557A>C
c.*1509A>C (n.*1509A>C)
c.8450A>C (p.Asn2817Thr)
c.2303A>C (p.Asn768Thr)
n.496A>C
c.8540A>C (p.Asn2847Thr)
c.8537A>C (p.Asn2846Thr)
c.8318A>C (p.Asn2773Thr)
c.6527A>C (p.Asn2176Thr)
c.6077A>C (p.Asn2026Thr)
c.5285A>C (p.Asn1762Thr)
c.8447A>C (p.Asn2816Thr)
8g.60865389A>GCA371309512CHD7n.1626A>G
n.557A>G
c.*1509A>G (n.*1509A>G)
c.8450A>G (p.Asn2817Ser)
c.2303A>G (p.Asn768Ser)
n.496A>G
c.8540A>G (p.Asn2847Ser)
c.8537A>G (p.Asn2846Ser)
c.8318A>G (p.Asn2773Ser)
c.6527A>G (p.Asn2176Ser)
c.6077A>G (p.Asn2026Ser)
c.5285A>G (p.Asn1762Ser)
c.8447A>G (p.Asn2816Ser)
 gnomAD v4 COSMIC
8g.60865389A>TCA371309516CHD7n.1626A>T
n.557A>T
c.*1509A>T (n.*1509A>T)
c.8450A>T (p.Asn2817Ile)
c.2303A>T (p.Asn768Ile)
n.496A>T
c.8540A>T (p.Asn2847Ile)
c.8537A>T (p.Asn2846Ile)
c.8318A>T (p.Asn2773Ile)
c.6527A>T (p.Asn2176Ile)
c.6077A>T (p.Asn2026Ile)
c.5285A>T (p.Asn1762Ile)
c.8447A>T (p.Asn2816Ile)
 COSMIC
8g.60865390T>ACA371309523CHD7n.1627T>A
n.558T>A
c.*1510T>A (n.*1510T>A)
c.8451T>A (p.Asn2817Lys)
c.2304T>A (p.Asn768Lys)
n.497T>A
c.8541T>A (p.Asn2847Lys)
c.8538T>A (p.Asn2846Lys)
c.8319T>A (p.Asn2773Lys)
c.6528T>A (p.Asn2176Lys)
c.6078T>A (p.Asn2026Lys)
c.5286T>A (p.Asn1762Lys)
c.8448T>A (p.Asn2816Lys)
8g.60865390T>CCA461106049CHD7n.1627T>C
n.558T>C
c.*1510T>C (n.*1510T>C)
c.8451T>C (p.Asn2817=)
c.2304T>C (p.Asn768=)
n.497T>C
c.8541T>C (p.Asn2847=)
c.8538T>C (p.Asn2846=)
c.8319T>C (p.Asn2773=)
c.6528T>C (p.Asn2176=)
c.6078T>C (p.Asn2026=)
c.5286T>C (p.Asn1762=)
c.8448T>C (p.Asn2816=)
 gnomAD v4
8g.60865390T>GCA371309538CHD7n.1627T>G
n.558T>G
c.*1510T>G (n.*1510T>G)
c.8451T>G (p.Asn2817Lys)
c.2304T>G (p.Asn768Lys)
n.497T>G
c.8541T>G (p.Asn2847Lys)
c.8538T>G (p.Asn2846Lys)
c.8319T>G (p.Asn2773Lys)
c.6528T>G (p.Asn2176Lys)
c.6078T>G (p.Asn2026Lys)
c.5286T>G (p.Asn1762Lys)
c.8448T>G (p.Asn2816Lys)
8g.60865390T=CA1788130218CHD7n.1627T=
n.558T=
c.*1510T= (n.*1510T=)
c.8451T= (p.Asn2817=)
c.2304T= (p.Asn768=)
n.497T=
c.8541T= (p.Asn2847=)
c.8538T= (p.Asn2846=)
c.8319T= (p.Asn2773=)
c.6528T= (p.Asn2176=)
c.6078T= (p.Asn2026=)
c.5286T= (p.Asn1762=)
c.8448T= (p.Asn2816=)
8g.60865391_60865398dupCA2695203182CHD7n.1628_1635dup
n.559_566dup
c.*1511_*1518dup (n.*1511_*1518dup)
c.8452_8459dup (p.Ser2821ThrfsTer?)
c.2305_2312dup (p.Ser772ThrfsTer?)
n.498_505dup
c.8542_8549dup (p.Ser2851ThrfsTer?)
c.8539_8546dup (p.Ser2850ThrfsTer?)
c.8320_8327dup (p.Ser2777ThrfsTer?)
c.6529_6536dup (p.Ser2180ThrfsTer?)
c.6079_6086dup (p.Ser2030ThrfsTer?)
c.5287_5294dup (p.Ser1766ThrfsTer?)
c.8449_8456dup (p.Ser2820ThrfsTer?)

Number of alleles fetched