Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60865242A>CCA371308197CHD7n.1479A>C
n.410A>C
c.*1362A>C (n.*1362A>C)
c.8303A>C (p.Gln2768Pro)
c.2156A>C (p.Gln719Pro)
n.349A>C
c.8393A>C (p.Gln2798Pro)
c.8390A>C (p.Gln2797Pro)
c.8171A>C (p.Gln2724Pro)
c.6380A>C (p.Gln2127Pro)
c.5930A>C (p.Gln1977Pro)
c.5138A>C (p.Gln1713Pro)
c.8300A>C (p.Gln2767Pro)
8g.60865242A>GCA371308199CHD7n.1479A>G
n.410A>G
c.*1362A>G (n.*1362A>G)
c.8303A>G (p.Gln2768Arg)
c.2156A>G (p.Gln719Arg)
n.349A>G
c.8393A>G (p.Gln2798Arg)
c.8390A>G (p.Gln2797Arg)
c.8171A>G (p.Gln2724Arg)
c.6380A>G (p.Gln2127Arg)
c.5930A>G (p.Gln1977Arg)
c.5138A>G (p.Gln1713Arg)
c.8300A>G (p.Gln2767Arg)
8g.60865242A>TCA371308203CHD7n.1479A>T
n.410A>T
c.*1362A>T (n.*1362A>T)
c.8303A>T (p.Gln2768Leu)
c.2156A>T (p.Gln719Leu)
n.349A>T
c.8393A>T (p.Gln2798Leu)
c.8390A>T (p.Gln2797Leu)
c.8171A>T (p.Gln2724Leu)
c.6380A>T (p.Gln2127Leu)
c.5930A>T (p.Gln1977Leu)
c.5138A>T (p.Gln1713Leu)
c.8300A>T (p.Gln2767Leu)
8g.60865243G>ACA461105834CHD7n.1480G>A
n.411G>A
c.*1363G>A (n.*1363G>A)
c.8304G>A (p.Gln2768=)
c.2157G>A (p.Gln719=)
n.350G>A
c.8394G>A (p.Gln2798=)
c.8391G>A (p.Gln2797=)
c.8172G>A (p.Gln2724=)
c.6381G>A (p.Gln2127=)
c.5931G>A (p.Gln1977=)
c.5139G>A (p.Gln1713=)
c.8301G>A (p.Gln2767=)
8g.60865243G>CCA4760985CHD7n.1480G>C
n.411G>C
c.*1363G>C (n.*1363G>C)
c.8304G>C (p.Gln2768His)
c.2157G>C (p.Gln719His)
n.350G>C
c.8394G>C (p.Gln2798His)
c.8391G>C (p.Gln2797His)
c.8172G>C (p.Gln2724His)
c.6381G>C (p.Gln2127His)
c.5931G>C (p.Gln1977His)
c.5139G>C (p.Gln1713His)
c.8301G>C (p.Gln2767His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60865243G=CA1788129588CHD7n.1480G=
n.411G=
c.*1363G= (n.*1363G=)
c.8304G= (p.Gln2768=)
c.2157G= (p.Gln719=)
n.350G=
c.8394G= (p.Gln2798=)
c.8391G= (p.Gln2797=)
c.8172G= (p.Gln2724=)
c.6381G= (p.Gln2127=)
c.5931G= (p.Gln1977=)
c.5139G= (p.Gln1713=)
c.8301G= (p.Gln2767=)
8g.60865243G>TCA371308210CHD7n.1480G>T
n.411G>T
c.*1363G>T (n.*1363G>T)
c.8304G>T (p.Gln2768His)
c.2157G>T (p.Gln719His)
n.350G>T
c.8394G>T (p.Gln2798His)
c.8391G>T (p.Gln2797His)
c.8172G>T (p.Gln2724His)
c.6381G>T (p.Gln2127His)
c.5931G>T (p.Gln1977His)
c.5139G>T (p.Gln1713His)
c.8301G>T (p.Gln2767His)
8g.60865245_60865248delCA2717281425CHD7n.1482_1485del
n.413_416del
c.*1365_*1368del (n.*1365_*1368del)
c.8306_8309del (p.Leu2769GlnfsTer29)
c.2159_2162del (p.Leu720GlnfsTer29)
n.352_355del
c.8396_8399del (p.Leu2799GlnfsTer29)
c.8393_8396del (p.Leu2798GlnfsTer29)
c.8174_8177del (p.Leu2725GlnfsTer29)
c.6383_6386del (p.Leu2128GlnfsTer29)
c.5933_5936del (p.Leu1978GlnfsTer29)
c.5141_5144del (p.Leu1714GlnfsTer29)
c.8303_8306del (p.Leu2768GlnfsTer29)
 dbSNP
8g.60865244C>ACA371308215CHD7n.1481C>A
n.412C>A
c.*1364C>A (n.*1364C>A)
c.8305C>A (p.Leu2769Met)
c.2158C>A (p.Leu720Met)
n.351C>A
c.8395C>A (p.Leu2799Met)
c.8392C>A (p.Leu2798Met)
c.8173C>A (p.Leu2725Met)
c.6382C>A (p.Leu2128Met)
c.5932C>A (p.Leu1978Met)
c.5140C>A (p.Leu1714Met)
c.8302C>A (p.Leu2768Met)
8g.60865244C>GCA371308218CHD7n.1481C>G
n.412C>G
c.*1364C>G (n.*1364C>G)
c.8305C>G (p.Leu2769Val)
c.2158C>G (p.Leu720Val)
n.351C>G
c.8395C>G (p.Leu2799Val)
c.8392C>G (p.Leu2798Val)
c.8173C>G (p.Leu2725Val)
c.6382C>G (p.Leu2128Val)
c.5932C>G (p.Leu1978Val)
c.5140C>G (p.Leu1714Val)
c.8302C>G (p.Leu2768Val)
 gnomAD v4
8g.60865244C>TCA461105836CHD7n.1481C>T
n.412C>T
c.*1364C>T (n.*1364C>T)
c.8305C>T (p.Leu2769=)
c.2158C>T (p.Leu720=)
n.351C>T
c.8395C>T (p.Leu2799=)
c.8392C>T (p.Leu2798=)
c.8173C>T (p.Leu2725=)
c.6382C>T (p.Leu2128=)
c.5932C>T (p.Leu1978=)
c.5140C>T (p.Leu1714=)
c.8302C>T (p.Leu2768=)
8g.60865245T>ACA371308221CHD7n.1482T>A
n.413T>A
c.*1365T>A (n.*1365T>A)
c.8306T>A (p.Leu2769Gln)
c.2159T>A (p.Leu720Gln)
n.352T>A
c.8396T>A (p.Leu2799Gln)
c.8393T>A (p.Leu2798Gln)
c.8174T>A (p.Leu2725Gln)
c.6383T>A (p.Leu2128Gln)
c.5933T>A (p.Leu1978Gln)
c.5141T>A (p.Leu1714Gln)
c.8303T>A (p.Leu2768Gln)
8g.60865245T>CCA371308227CHD7n.1482T>C
n.413T>C
c.*1365T>C (n.*1365T>C)
c.8306T>C (p.Leu2769Pro)
c.2159T>C (p.Leu720Pro)
n.352T>C
c.8396T>C (p.Leu2799Pro)
c.8393T>C (p.Leu2798Pro)
c.8174T>C (p.Leu2725Pro)
c.6383T>C (p.Leu2128Pro)
c.5933T>C (p.Leu1978Pro)
c.5141T>C (p.Leu1714Pro)
c.8303T>C (p.Leu2768Pro)
8g.60865245T>GCA371308223CHD7n.1482T>G
n.413T>G
c.*1365T>G (n.*1365T>G)
c.8306T>G (p.Leu2769Arg)
c.2159T>G (p.Leu720Arg)
n.352T>G
c.8396T>G (p.Leu2799Arg)
c.8393T>G (p.Leu2798Arg)
c.8174T>G (p.Leu2725Arg)
c.6383T>G (p.Leu2128Arg)
c.5933T>G (p.Leu1978Arg)
c.5141T>G (p.Leu1714Arg)
c.8303T>G (p.Leu2768Arg)
8g.60865246G>ACA461105840CHD7n.1483G>A
n.414G>A
c.*1366G>A (n.*1366G>A)
c.8307G>A (p.Leu2769=)
c.2160G>A (p.Leu720=)
n.353G>A
c.8397G>A (p.Leu2799=)
c.8394G>A (p.Leu2798=)
c.8175G>A (p.Leu2725=)
c.6384G>A (p.Leu2128=)
c.5934G>A (p.Leu1978=)
c.5142G>A (p.Leu1714=)
c.8304G>A (p.Leu2768=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60865246G>CCA461105841CHD7n.1483G>C
n.414G>C
c.*1366G>C (n.*1366G>C)
c.8307G>C (p.Leu2769=)
c.2160G>C (p.Leu720=)
n.353G>C
c.8397G>C (p.Leu2799=)
c.8394G>C (p.Leu2798=)
c.8175G>C (p.Leu2725=)
c.6384G>C (p.Leu2128=)
c.5934G>C (p.Leu1978=)
c.5142G>C (p.Leu1714=)
c.8304G>C (p.Leu2768=)
8g.60865246G=CA1788129593CHD7n.1483G=
n.414G=
c.*1366G= (n.*1366G=)
c.8307G= (p.Leu2769=)
c.2160G= (p.Leu720=)
n.353G=
c.8397G= (p.Leu2799=)
c.8394G= (p.Leu2798=)
c.8175G= (p.Leu2725=)
c.6384G= (p.Leu2128=)
c.5934G= (p.Leu1978=)
c.5142G= (p.Leu1714=)
c.8304G= (p.Leu2768=)
8g.60865246G>TCA461105843CHD7n.1483G>T
n.414G>T
c.*1366G>T (n.*1366G>T)
c.8307G>T (p.Leu2769=)
c.2160G>T (p.Leu720=)
n.353G>T
c.8397G>T (p.Leu2799=)
c.8394G>T (p.Leu2798=)
c.8175G>T (p.Leu2725=)
c.6384G>T (p.Leu2128=)
c.5934G>T (p.Leu1978=)
c.5142G>T (p.Leu1714=)
c.8304G>T (p.Leu2768=)
8g.60865247G>ACA4760986CHD7n.1484G>A
n.415G>A
c.*1367G>A (n.*1367G>A)
c.8308G>A (p.Ala2770Thr)
c.2161G>A (p.Ala721Thr)
n.354G>A
c.8398G>A (p.Ala2800Thr)
c.8395G>A (p.Ala2799Thr)
c.8176G>A (p.Ala2726Thr)
c.6385G>A (p.Ala2129Thr)
c.5935G>A (p.Ala1979Thr)
c.5143G>A (p.Ala1715Thr)
c.8305G>A (p.Ala2769Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60865247G>CCA371308233CHD7n.1484G>C
n.415G>C
c.*1367G>C (n.*1367G>C)
c.8308G>C (p.Ala2770Pro)
c.2161G>C (p.Ala721Pro)
n.354G>C
c.8398G>C (p.Ala2800Pro)
c.8395G>C (p.Ala2799Pro)
c.8176G>C (p.Ala2726Pro)
c.6385G>C (p.Ala2129Pro)
c.5935G>C (p.Ala1979Pro)
c.5143G>C (p.Ala1715Pro)
c.8305G>C (p.Ala2769Pro)
8g.60865247G=CA1788129622CHD7n.1484G=
n.415G=
c.*1367G= (n.*1367G=)
c.8308G= (p.Ala2770=)
c.2161G= (p.Ala721=)
n.354G=
c.8398G= (p.Ala2800=)
c.8395G= (p.Ala2799=)
c.8176G= (p.Ala2726=)
c.6385G= (p.Ala2129=)
c.5935G= (p.Ala1979=)
c.5143G= (p.Ala1715=)
c.8305G= (p.Ala2769=)
8g.60865247G>TCA371308232CHD7n.1484G>T
n.415G>T
c.*1367G>T (n.*1367G>T)
c.8308G>T (p.Ala2770Ser)
c.2161G>T (p.Ala721Ser)
n.354G>T
c.8398G>T (p.Ala2800Ser)
c.8395G>T (p.Ala2799Ser)
c.8176G>T (p.Ala2726Ser)
c.6385G>T (p.Ala2129Ser)
c.5935G>T (p.Ala1979Ser)
c.5143G>T (p.Ala1715Ser)
c.8305G>T (p.Ala2769Ser)
8g.60865248C>ACA371308238CHD7n.1485C>A
n.416C>A
c.*1368C>A (n.*1368C>A)
c.8309C>A (p.Ala2770Glu)
c.2162C>A (p.Ala721Glu)
n.355C>A
c.8399C>A (p.Ala2800Glu)
c.8396C>A (p.Ala2799Glu)
c.8177C>A (p.Ala2726Glu)
c.6386C>A (p.Ala2129Glu)
c.5936C>A (p.Ala1979Glu)
c.5144C>A (p.Ala1715Glu)
c.8306C>A (p.Ala2769Glu)
 gnomAD v4
8g.60865248C>GCA371308241CHD7n.1485C>G
n.416C>G
c.*1368C>G (n.*1368C>G)
c.8309C>G (p.Ala2770Gly)
c.2162C>G (p.Ala721Gly)
n.355C>G
c.8399C>G (p.Ala2800Gly)
c.8396C>G (p.Ala2799Gly)
c.8177C>G (p.Ala2726Gly)
c.6386C>G (p.Ala2129Gly)
c.5936C>G (p.Ala1979Gly)
c.5144C>G (p.Ala1715Gly)
c.8306C>G (p.Ala2769Gly)
8g.60865248C>TCA371308244CHD7n.1485C>T
n.416C>T
c.*1368C>T (n.*1368C>T)
c.8309C>T (p.Ala2770Val)
c.2162C>T (p.Ala721Val)
n.355C>T
c.8399C>T (p.Ala2800Val)
c.8396C>T (p.Ala2799Val)
c.8177C>T (p.Ala2726Val)
c.6386C>T (p.Ala2129Val)
c.5936C>T (p.Ala1979Val)
c.5144C>T (p.Ala1715Val)
c.8306C>T (p.Ala2769Val)
8g.60865249A=CA1788129631CHD7n.1486A=
n.417A=
c.*1369A= (n.*1369A=)
c.8310A= (p.Ala2770=)
c.2163A= (p.Ala721=)
n.356A=
c.8400A= (p.Ala2800=)
c.8397A= (p.Ala2799=)
c.8178A= (p.Ala2726=)
c.6387A= (p.Ala2129=)
c.5937A= (p.Ala1979=)
c.5145A= (p.Ala1715=)
c.8307A= (p.Ala2769=)
8g.60865249A>CCA461105846CHD7n.1486A>C
n.417A>C
c.*1369A>C (n.*1369A>C)
c.8310A>C (p.Ala2770=)
c.2163A>C (p.Ala721=)
n.356A>C
c.8400A>C (p.Ala2800=)
c.8397A>C (p.Ala2799=)
c.8178A>C (p.Ala2726=)
c.6387A>C (p.Ala2129=)
c.5937A>C (p.Ala1979=)
c.5145A>C (p.Ala1715=)
c.8307A>C (p.Ala2769=)
8g.60865249A>GCA461105847CHD7n.1486A>G
n.417A>G
c.*1369A>G (n.*1369A>G)
c.8310A>G (p.Ala2770=)
c.2163A>G (p.Ala721=)
n.356A>G
c.8400A>G (p.Ala2800=)
c.8397A>G (p.Ala2799=)
c.8178A>G (p.Ala2726=)
c.6387A>G (p.Ala2129=)
c.5937A>G (p.Ala1979=)
c.5145A>G (p.Ala1715=)
c.8307A>G (p.Ala2769=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60865249A>TCA461105849CHD7n.1486A>T
n.417A>T
c.*1369A>T (n.*1369A>T)
c.8310A>T (p.Ala2770=)
c.2163A>T (p.Ala721=)
n.356A>T
c.8400A>T (p.Ala2800=)
c.8397A>T (p.Ala2799=)
c.8178A>T (p.Ala2726=)
c.6387A>T (p.Ala2129=)
c.5937A>T (p.Ala1979=)
c.5145A>T (p.Ala1715=)
c.8307A>T (p.Ala2769=)
8g.60865250G>ACA371308249CHD7n.1487G>A
n.418G>A
c.*1370G>A (n.*1370G>A)
c.8311G>A (p.Gly2771Ser)
c.2164G>A (p.Gly722Ser)
n.357G>A
c.8401G>A (p.Gly2801Ser)
c.8398G>A (p.Gly2800Ser)
c.8179G>A (p.Gly2727Ser)
c.6388G>A (p.Gly2130Ser)
c.5938G>A (p.Gly1980Ser)
c.5146G>A (p.Gly1716Ser)
c.8308G>A (p.Gly2770Ser)
8g.60865250G>CCA371308252CHD7n.1487G>C
n.418G>C
c.*1370G>C (n.*1370G>C)
c.8311G>C (p.Gly2771Arg)
c.2164G>C (p.Gly722Arg)
n.357G>C
c.8401G>C (p.Gly2801Arg)
c.8398G>C (p.Gly2800Arg)
c.8179G>C (p.Gly2727Arg)
c.6388G>C (p.Gly2130Arg)
c.5938G>C (p.Gly1980Arg)
c.5146G>C (p.Gly1716Arg)
c.8308G>C (p.Gly2770Arg)
8g.60865250G>TCA371308254CHD7n.1487G>T
n.418G>T
c.*1370G>T (n.*1370G>T)
c.8311G>T (p.Gly2771Cys)
c.2164G>T (p.Gly722Cys)
n.357G>T
c.8401G>T (p.Gly2801Cys)
c.8398G>T (p.Gly2800Cys)
c.8179G>T (p.Gly2727Cys)
c.6388G>T (p.Gly2130Cys)
c.5938G>T (p.Gly1980Cys)
c.5146G>T (p.Gly1716Cys)
c.8308G>T (p.Gly2770Cys)
8g.60865251G>ACA177329328CHD7n.1488G>A
n.419G>A
c.*1371G>A (n.*1371G>A)
c.8312G>A (p.Gly2771Asp)
c.2165G>A (p.Gly722Asp)
n.358G>A
c.8402G>A (p.Gly2801Asp)
c.8399G>A (p.Gly2800Asp)
c.8180G>A (p.Gly2727Asp)
c.6389G>A (p.Gly2130Asp)
c.5939G>A (p.Gly1980Asp)
c.5147G>A (p.Gly1716Asp)
c.8309G>A (p.Gly2770Asp)
 dbSNP
8g.60865251G>CCA371308262CHD7n.1488G>C
n.419G>C
c.*1371G>C (n.*1371G>C)
c.8312G>C (p.Gly2771Ala)
c.2165G>C (p.Gly722Ala)
n.358G>C
c.8402G>C (p.Gly2801Ala)
c.8399G>C (p.Gly2800Ala)
c.8180G>C (p.Gly2727Ala)
c.6389G>C (p.Gly2130Ala)
c.5939G>C (p.Gly1980Ala)
c.5147G>C (p.Gly1716Ala)
c.8309G>C (p.Gly2770Ala)
8g.60865251G=CA1788129643CHD7n.1488G=
n.419G=
c.*1371G= (n.*1371G=)
c.8312G= (p.Gly2771=)
c.2165G= (p.Gly722=)
n.358G=
c.8402G= (p.Gly2801=)
c.8399G= (p.Gly2800=)
c.8180G= (p.Gly2727=)
c.6389G= (p.Gly2130=)
c.5939G= (p.Gly1980=)
c.5147G= (p.Gly1716=)
c.8309G= (p.Gly2770=)
8g.60865251G>TCA371308265CHD7n.1488G>T
n.419G>T
c.*1371G>T (n.*1371G>T)
c.8312G>T (p.Gly2771Val)
c.2165G>T (p.Gly722Val)
n.358G>T
c.8402G>T (p.Gly2801Val)
c.8399G>T (p.Gly2800Val)
c.8180G>T (p.Gly2727Val)
c.6389G>T (p.Gly2130Val)
c.5939G>T (p.Gly1980Val)
c.5147G>T (p.Gly1716Val)
c.8309G>T (p.Gly2770Val)
8g.60865252C>ACA461105855CHD7n.1489C>A
n.420C>A
c.*1372C>A (n.*1372C>A)
c.8313C>A (p.Gly2771=)
c.2166C>A (p.Gly722=)
n.359C>A
c.8403C>A (p.Gly2801=)
c.8400C>A (p.Gly2800=)
c.8181C>A (p.Gly2727=)
c.6390C>A (p.Gly2130=)
c.5940C>A (p.Gly1980=)
c.5148C>A (p.Gly1716=)
c.8310C>A (p.Gly2770=)
 gnomAD v4
8g.60865252C>GCA461105856CHD7n.1489C>G
n.420C>G
c.*1372C>G (n.*1372C>G)
c.8313C>G (p.Gly2771=)
c.2166C>G (p.Gly722=)
n.359C>G
c.8403C>G (p.Gly2801=)
c.8400C>G (p.Gly2800=)
c.8181C>G (p.Gly2727=)
c.6390C>G (p.Gly2130=)
c.5940C>G (p.Gly1980=)
c.5148C>G (p.Gly1716=)
c.8310C>G (p.Gly2770=)
8g.60865252C>TCA461105857CHD7n.1489C>T
n.420C>T
c.*1372C>T (n.*1372C>T)
c.8313C>T (p.Gly2771=)
c.2166C>T (p.Gly722=)
n.359C>T
c.8403C>T (p.Gly2801=)
c.8400C>T (p.Gly2800=)
c.8181C>T (p.Gly2727=)
c.6390C>T (p.Gly2130=)
c.5940C>T (p.Gly1980=)
c.5148C>T (p.Gly1716=)
c.8310C>T (p.Gly2770=)
 gnomAD v4
8g.60865253C>ACA371308274CHD7n.1490C>A
n.421C>A
c.*1373C>A (n.*1373C>A)
c.8314C>A (p.Leu2772Ile)
c.2167C>A (p.Leu723Ile)
n.360C>A
c.8404C>A (p.Leu2802Ile)
c.8401C>A (p.Leu2801Ile)
c.8182C>A (p.Leu2728Ile)
c.6391C>A (p.Leu2131Ile)
c.5941C>A (p.Leu1981Ile)
c.5149C>A (p.Leu1717Ile)
c.8311C>A (p.Leu2771Ile)
 gnomAD v4
8g.60865253C=CA1788129651CHD7n.1490C=
n.421C=
c.*1373C= (n.*1373C=)
c.8314C= (p.Leu2772=)
c.2167C= (p.Leu723=)
n.360C=
c.8404C= (p.Leu2802=)
c.8401C= (p.Leu2801=)
c.8182C= (p.Leu2728=)
c.6391C= (p.Leu2131=)
c.5941C= (p.Leu1981=)
c.5149C= (p.Leu1717=)
c.8311C= (p.Leu2771=)
8g.60865253C>GCA371308270CHD7n.1490C>G
n.421C>G
c.*1373C>G (n.*1373C>G)
c.8314C>G (p.Leu2772Val)
c.2167C>G (p.Leu723Val)
n.360C>G
c.8404C>G (p.Leu2802Val)
c.8401C>G (p.Leu2801Val)
c.8182C>G (p.Leu2728Val)
c.6391C>G (p.Leu2131Val)
c.5941C>G (p.Leu1981Val)
c.5149C>G (p.Leu1717Val)
c.8311C>G (p.Leu2771Val)
 gnomAD v4
8g.60865253C>TCA177329329CHD7n.1490C>T
n.421C>T
c.*1373C>T (n.*1373C>T)
c.8314C>T (p.Leu2772Phe)
c.2167C>T (p.Leu723Phe)
n.360C>T
c.8404C>T (p.Leu2802Phe)
c.8401C>T (p.Leu2801Phe)
c.8182C>T (p.Leu2728Phe)
c.6391C>T (p.Leu2131Phe)
c.5941C>T (p.Leu1981Phe)
c.5149C>T (p.Leu1717Phe)
c.8311C>T (p.Leu2771Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60865254T>ACA371308278CHD7n.1491T>A
n.422T>A
c.*1374T>A (n.*1374T>A)
c.8315T>A (p.Leu2772His)
c.2168T>A (p.Leu723His)
n.361T>A
c.8405T>A (p.Leu2802His)
c.8402T>A (p.Leu2801His)
c.8183T>A (p.Leu2728His)
c.6392T>A (p.Leu2131His)
c.5942T>A (p.Leu1981His)
c.5150T>A (p.Leu1717His)
c.8312T>A (p.Leu2771His)
8g.60865254T>CCA371308281CHD7n.1491T>C
n.422T>C
c.*1374T>C (n.*1374T>C)
c.8315T>C (p.Leu2772Pro)
c.2168T>C (p.Leu723Pro)
n.361T>C
c.8405T>C (p.Leu2802Pro)
c.8402T>C (p.Leu2801Pro)
c.8183T>C (p.Leu2728Pro)
c.6392T>C (p.Leu2131Pro)
c.5942T>C (p.Leu1981Pro)
c.5150T>C (p.Leu1717Pro)
c.8312T>C (p.Leu2771Pro)
8g.60865254T>GCA371308285CHD7n.1491T>G
n.422T>G
c.*1374T>G (n.*1374T>G)
c.8315T>G (p.Leu2772Arg)
c.2168T>G (p.Leu723Arg)
n.361T>G
c.8405T>G (p.Leu2802Arg)
c.8402T>G (p.Leu2801Arg)
c.8183T>G (p.Leu2728Arg)
c.6392T>G (p.Leu2131Arg)
c.5942T>G (p.Leu1981Arg)
c.5150T>G (p.Leu1717Arg)
c.8312T>G (p.Leu2771Arg)
8g.60865255C>ACA461105859CHD7n.1492C>A
n.423C>A
c.*1375C>A (n.*1375C>A)
c.8316C>A (p.Leu2772=)
c.2169C>A (p.Leu723=)
n.362C>A
c.8406C>A (p.Leu2802=)
c.8403C>A (p.Leu2801=)
c.8184C>A (p.Leu2728=)
c.6393C>A (p.Leu2131=)
c.5943C>A (p.Leu1981=)
c.5151C>A (p.Leu1717=)
c.8313C>A (p.Leu2771=)
 dbSNP gnomAD v3 gnomAD v4
8g.60865255C=CA1788129655CHD7n.1492C=
n.423C=
c.*1375C= (n.*1375C=)
c.8316C= (p.Leu2772=)
c.2169C= (p.Leu723=)
n.362C=
c.8406C= (p.Leu2802=)
c.8403C= (p.Leu2801=)
c.8184C= (p.Leu2728=)
c.6393C= (p.Leu2131=)
c.5943C= (p.Leu1981=)
c.5151C= (p.Leu1717=)
c.8313C= (p.Leu2771=)
8g.60865255C>GCA461105861CHD7n.1492C>G
n.423C>G
c.*1375C>G (n.*1375C>G)
c.8316C>G (p.Leu2772=)
c.2169C>G (p.Leu723=)
n.362C>G
c.8406C>G (p.Leu2802=)
c.8403C>G (p.Leu2801=)
c.8184C>G (p.Leu2728=)
c.6393C>G (p.Leu2131=)
c.5943C>G (p.Leu1981=)
c.5151C>G (p.Leu1717=)
c.8313C>G (p.Leu2771=)
8g.60865255C>TCA4760987CHD7n.1492C>T
n.423C>T
c.*1375C>T (n.*1375C>T)
c.8316C>T (p.Leu2772=)
c.2169C>T (p.Leu723=)
n.362C>T
c.8406C>T (p.Leu2802=)
c.8403C>T (p.Leu2801=)
c.8184C>T (p.Leu2728=)
c.6393C>T (p.Leu2131=)
c.5943C>T (p.Leu1981=)
c.5151C>T (p.Leu1717=)
c.8313C>T (p.Leu2771=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60865256A=CA1788129661CHD7n.1493A=
n.424A=
c.*1376A= (n.*1376A=)
c.8317A= (p.Met2773=)
c.2170A= (p.Met724=)
n.363A=
c.8407A= (p.Met2803=)
c.8404A= (p.Met2802=)
c.8185A= (p.Met2729=)
c.6394A= (p.Met2132=)
c.5944A= (p.Met1982=)
c.5152A= (p.Met1718=)
c.8314A= (p.Met2772=)
8g.60865256A>CCA371308301CHD7n.1493A>C
n.424A>C
c.*1376A>C (n.*1376A>C)
c.8317A>C (p.Met2773Leu)
c.2170A>C (p.Met724Leu)
n.363A>C
c.8407A>C (p.Met2803Leu)
c.8404A>C (p.Met2802Leu)
c.8185A>C (p.Met2729Leu)
c.6394A>C (p.Met2132Leu)
c.5944A>C (p.Met1982Leu)
c.5152A>C (p.Met1718Leu)
c.8314A>C (p.Met2772Leu)
8g.60865256A>GCA371308305CHD7n.1493A>G
n.424A>G
c.*1376A>G (n.*1376A>G)
c.8317A>G (p.Met2773Val)
c.2170A>G (p.Met724Val)
n.363A>G
c.8407A>G (p.Met2803Val)
c.8404A>G (p.Met2802Val)
c.8185A>G (p.Met2729Val)
c.6394A>G (p.Met2132Val)
c.5944A>G (p.Met1982Val)
c.5152A>G (p.Met1718Val)
c.8314A>G (p.Met2772Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60865256A>TCA371308309CHD7n.1493A>T
n.424A>T
c.*1376A>T (n.*1376A>T)
c.8317A>T (p.Met2773Leu)
c.2170A>T (p.Met724Leu)
n.363A>T
c.8407A>T (p.Met2803Leu)
c.8404A>T (p.Met2802Leu)
c.8185A>T (p.Met2729Leu)
c.6394A>T (p.Met2132Leu)
c.5944A>T (p.Met1982Leu)
c.5152A>T (p.Met1718Leu)
c.8314A>T (p.Met2772Leu)
8g.60865257T>ACA371308315CHD7n.1494T>A
n.425T>A
c.*1377T>A (n.*1377T>A)
c.8318T>A (p.Met2773Lys)
c.2171T>A (p.Met724Lys)
n.364T>A
c.8408T>A (p.Met2803Lys)
c.8405T>A (p.Met2802Lys)
c.8186T>A (p.Met2729Lys)
c.6395T>A (p.Met2132Lys)
c.5945T>A (p.Met1982Lys)
c.5153T>A (p.Met1718Lys)
c.8315T>A (p.Met2772Lys)
8g.60865257T>CCA371308318CHD7n.1494T>C
n.425T>C
c.*1377T>C (n.*1377T>C)
c.8318T>C (p.Met2773Thr)
c.2171T>C (p.Met724Thr)
n.364T>C
c.8408T>C (p.Met2803Thr)
c.8405T>C (p.Met2802Thr)
c.8186T>C (p.Met2729Thr)
c.6395T>C (p.Met2132Thr)
c.5945T>C (p.Met1982Thr)
c.5153T>C (p.Met1718Thr)
c.8315T>C (p.Met2772Thr)
 ClinVar
8g.60865257T>GCA371308321CHD7n.1494T>G
n.425T>G
c.*1377T>G (n.*1377T>G)
c.8318T>G (p.Met2773Arg)
c.2171T>G (p.Met724Arg)
n.364T>G
c.8408T>G (p.Met2803Arg)
c.8405T>G (p.Met2802Arg)
c.8186T>G (p.Met2729Arg)
c.6395T>G (p.Met2132Arg)
c.5945T>G (p.Met1982Arg)
c.5153T>G (p.Met1718Arg)
c.8315T>G (p.Met2772Arg)
8g.60865258G>ACA371308331CHD7n.1495G>A
n.426G>A
c.*1378G>A (n.*1378G>A)
c.8319G>A (p.Met2773Ile)
c.2172G>A (p.Met724Ile)
n.365G>A
c.8409G>A (p.Met2803Ile)
c.8406G>A (p.Met2802Ile)
c.8187G>A (p.Met2729Ile)
c.6396G>A (p.Met2132Ile)
c.5946G>A (p.Met1982Ile)
c.5154G>A (p.Met1718Ile)
c.8316G>A (p.Met2772Ile)
8g.60865258G>CCA371308334CHD7n.1495G>C
n.426G>C
c.*1378G>C (n.*1378G>C)
c.8319G>C (p.Met2773Ile)
c.2172G>C (p.Met724Ile)
n.365G>C
c.8409G>C (p.Met2803Ile)
c.8406G>C (p.Met2802Ile)
c.8187G>C (p.Met2729Ile)
c.6396G>C (p.Met2132Ile)
c.5946G>C (p.Met1982Ile)
c.5154G>C (p.Met1718Ile)
c.8316G>C (p.Met2772Ile)
8g.60865258G>TCA371308327CHD7n.1495G>T
n.426G>T
c.*1378G>T (n.*1378G>T)
c.8319G>T (p.Met2773Ile)
c.2172G>T (p.Met724Ile)
n.365G>T
c.8409G>T (p.Met2803Ile)
c.8406G>T (p.Met2802Ile)
c.8187G>T (p.Met2729Ile)
c.6396G>T (p.Met2132Ile)
c.5946G>T (p.Met1982Ile)
c.5154G>T (p.Met1718Ile)
c.8316G>T (p.Met2772Ile)
8g.60865259G>ACA371308340CHD7n.1496G>A
n.427G>A
c.*1379G>A (n.*1379G>A)
c.8320G>A (p.Gly2774Ser)
c.2173G>A (p.Gly725Ser)
n.366G>A
c.8410G>A (p.Gly2804Ser)
c.8407G>A (p.Gly2803Ser)
c.8188G>A (p.Gly2730Ser)
c.6397G>A (p.Gly2133Ser)
c.5947G>A (p.Gly1983Ser)
c.5155G>A (p.Gly1719Ser)
c.8317G>A (p.Gly2773Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60865259G>CCA371308344CHD7n.1496G>C
n.427G>C
c.*1379G>C (n.*1379G>C)
c.8320G>C (p.Gly2774Arg)
c.2173G>C (p.Gly725Arg)
n.366G>C
c.8410G>C (p.Gly2804Arg)
c.8407G>C (p.Gly2803Arg)
c.8188G>C (p.Gly2730Arg)
c.6397G>C (p.Gly2133Arg)
c.5947G>C (p.Gly1983Arg)
c.5155G>C (p.Gly1719Arg)
c.8317G>C (p.Gly2773Arg)
8g.60865259G=CA1788129666CHD7n.1496G=
n.427G=
c.*1379G= (n.*1379G=)
c.8320G= (p.Gly2774=)
c.2173G= (p.Gly725=)
n.366G=
c.8410G= (p.Gly2804=)
c.8407G= (p.Gly2803=)
c.8188G= (p.Gly2730=)
c.6397G= (p.Gly2133=)
c.5947G= (p.Gly1983=)
c.5155G= (p.Gly1719=)
c.8317G= (p.Gly2773=)
8g.60865259G>TCA371308349CHD7n.1496G>T
n.427G>T
c.*1379G>T (n.*1379G>T)
c.8320G>T (p.Gly2774Cys)
c.2173G>T (p.Gly725Cys)
n.366G>T
c.8410G>T (p.Gly2804Cys)
c.8407G>T (p.Gly2803Cys)
c.8188G>T (p.Gly2730Cys)
c.6397G>T (p.Gly2133Cys)
c.5947G>T (p.Gly1983Cys)
c.5155G>T (p.Gly1719Cys)
c.8317G>T (p.Gly2773Cys)
8g.60865260G>ACA371308354CHD7n.1497G>A
n.428G>A
c.*1380G>A (n.*1380G>A)
c.8321G>A (p.Gly2774Asp)
c.2174G>A (p.Gly725Asp)
n.367G>A
c.8411G>A (p.Gly2804Asp)
c.8408G>A (p.Gly2803Asp)
c.8189G>A (p.Gly2730Asp)
c.6398G>A (p.Gly2133Asp)
c.5948G>A (p.Gly1983Asp)
c.5156G>A (p.Gly1719Asp)
c.8318G>A (p.Gly2773Asp)
8g.60865260G>CCA371308357CHD7n.1497G>C
n.428G>C
c.*1380G>C (n.*1380G>C)
c.8321G>C (p.Gly2774Ala)
c.2174G>C (p.Gly725Ala)
n.367G>C
c.8411G>C (p.Gly2804Ala)
c.8408G>C (p.Gly2803Ala)
c.8189G>C (p.Gly2730Ala)
c.6398G>C (p.Gly2133Ala)
c.5948G>C (p.Gly1983Ala)
c.5156G>C (p.Gly1719Ala)
c.8318G>C (p.Gly2773Ala)
8g.60865260G>TCA371308360CHD7n.1497G>T
n.428G>T
c.*1380G>T (n.*1380G>T)
c.8321G>T (p.Gly2774Val)
c.2174G>T (p.Gly725Val)
n.367G>T
c.8411G>T (p.Gly2804Val)
c.8408G>T (p.Gly2803Val)
c.8189G>T (p.Gly2730Val)
c.6398G>T (p.Gly2133Val)
c.5948G>T (p.Gly1983Val)
c.5156G>T (p.Gly1719Val)
c.8318G>T (p.Gly2773Val)
 COSMIC
8g.60865261C>ACA461105871CHD7n.1498C>A
n.429C>A
c.*1381C>A (n.*1381C>A)
c.8322C>A (p.Gly2774=)
c.2175C>A (p.Gly725=)
n.368C>A
c.8412C>A (p.Gly2804=)
c.8409C>A (p.Gly2803=)
c.8190C>A (p.Gly2730=)
c.6399C>A (p.Gly2133=)
c.5949C>A (p.Gly1983=)
c.5157C>A (p.Gly1719=)
c.8319C>A (p.Gly2773=)
8g.60865261C=CA1788129679CHD7n.1498C=
n.429C=
c.*1381C= (n.*1381C=)
c.8322C= (p.Gly2774=)
c.2175C= (p.Gly725=)
n.368C=
c.8412C= (p.Gly2804=)
c.8409C= (p.Gly2803=)
c.8190C= (p.Gly2730=)
c.6399C= (p.Gly2133=)
c.5949C= (p.Gly1983=)
c.5157C= (p.Gly1719=)
c.8319C= (p.Gly2773=)
8g.60865261C>GCA4760988CHD7n.1498C>G
n.429C>G
c.*1381C>G (n.*1381C>G)
c.8322C>G (p.Gly2774=)
c.2175C>G (p.Gly725=)
n.368C>G
c.8412C>G (p.Gly2804=)
c.8409C>G (p.Gly2803=)
c.8190C>G (p.Gly2730=)
c.6399C>G (p.Gly2133=)
c.5949C>G (p.Gly1983=)
c.5157C>G (p.Gly1719=)
c.8319C>G (p.Gly2773=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60865261C>TCA461105869CHD7n.1498C>T
n.429C>T
c.*1381C>T (n.*1381C>T)
c.8322C>T (p.Gly2774=)
c.2175C>T (p.Gly725=)
n.368C>T
c.8412C>T (p.Gly2804=)
c.8409C>T (p.Gly2803=)
c.8190C>T (p.Gly2730=)
c.6399C>T (p.Gly2133=)
c.5949C>T (p.Gly1983=)
c.5157C>T (p.Gly1719=)
c.8319C>T (p.Gly2773=)
8g.60865262T>ACA371308368CHD7n.1499T>A
n.430T>A
c.*1382T>A (n.*1382T>A)
c.8323T>A (p.Phe2775Ile)
c.2176T>A (p.Phe726Ile)
n.369T>A
c.8413T>A (p.Phe2805Ile)
c.8410T>A (p.Phe2804Ile)
c.8191T>A (p.Phe2731Ile)
c.6400T>A (p.Phe2134Ile)
c.5950T>A (p.Phe1984Ile)
c.5158T>A (p.Phe1720Ile)
c.8320T>A (p.Phe2774Ile)
8g.60865262T>CCA371308371CHD7n.1499T>C
n.430T>C
c.*1382T>C (n.*1382T>C)
c.8323T>C (p.Phe2775Leu)
c.2176T>C (p.Phe726Leu)
n.369T>C
c.8413T>C (p.Phe2805Leu)
c.8410T>C (p.Phe2804Leu)
c.8191T>C (p.Phe2731Leu)
c.6400T>C (p.Phe2134Leu)
c.5950T>C (p.Phe1984Leu)
c.5158T>C (p.Phe1720Leu)
c.8320T>C (p.Phe2774Leu)
8g.60865262T>GCA371308377CHD7n.1499T>G
n.430T>G
c.*1382T>G (n.*1382T>G)
c.8323T>G (p.Phe2775Val)
c.2176T>G (p.Phe726Val)
n.369T>G
c.8413T>G (p.Phe2805Val)
c.8410T>G (p.Phe2804Val)
c.8191T>G (p.Phe2731Val)
c.6400T>G (p.Phe2134Val)
c.5950T>G (p.Phe1984Val)
c.5158T>G (p.Phe1720Val)
c.8320T>G (p.Phe2774Val)
8g.60865263T>ACA371308384CHD7n.1500T>A
n.431T>A
c.*1383T>A (n.*1383T>A)
c.8324T>A (p.Phe2775Tyr)
c.2177T>A (p.Phe726Tyr)
n.370T>A
c.8414T>A (p.Phe2805Tyr)
c.8411T>A (p.Phe2804Tyr)
c.8192T>A (p.Phe2731Tyr)
c.6401T>A (p.Phe2134Tyr)
c.5951T>A (p.Phe1984Tyr)
c.5159T>A (p.Phe1720Tyr)
c.8321T>A (p.Phe2774Tyr)
8g.60865263T>CCA371308388CHD7n.1500T>C
n.431T>C
c.*1383T>C (n.*1383T>C)
c.8324T>C (p.Phe2775Ser)
c.2177T>C (p.Phe726Ser)
n.370T>C
c.8414T>C (p.Phe2805Ser)
c.8411T>C (p.Phe2804Ser)
c.8192T>C (p.Phe2731Ser)
c.6401T>C (p.Phe2134Ser)
c.5951T>C (p.Phe1984Ser)
c.5159T>C (p.Phe1720Ser)
c.8321T>C (p.Phe2774Ser)
 ClinVar
8g.60865263T>GCA371308391CHD7n.1500T>G
n.431T>G
c.*1383T>G (n.*1383T>G)
c.8324T>G (p.Phe2775Cys)
c.2177T>G (p.Phe726Cys)
n.370T>G
c.8414T>G (p.Phe2805Cys)
c.8411T>G (p.Phe2804Cys)
c.8192T>G (p.Phe2731Cys)
c.6401T>G (p.Phe2134Cys)
c.5951T>G (p.Phe1984Cys)
c.5159T>G (p.Phe1720Cys)
c.8321T>G (p.Phe2774Cys)
8g.60865264C>ACA371308395CHD7n.1501C>A
n.432C>A
c.*1384C>A (n.*1384C>A)
c.8325C>A (p.Phe2775Leu)
c.2178C>A (p.Phe726Leu)
n.371C>A
c.8415C>A (p.Phe2805Leu)
c.8412C>A (p.Phe2804Leu)
c.8193C>A (p.Phe2731Leu)
c.6402C>A (p.Phe2134Leu)
c.5952C>A (p.Phe1984Leu)
c.5160C>A (p.Phe1720Leu)
c.8322C>A (p.Phe2774Leu)
8g.60865264C>GCA371308397CHD7n.1501C>G
n.432C>G
c.*1384C>G (n.*1384C>G)
c.8325C>G (p.Phe2775Leu)
c.2178C>G (p.Phe726Leu)
n.371C>G
c.8415C>G (p.Phe2805Leu)
c.8412C>G (p.Phe2804Leu)
c.8193C>G (p.Phe2731Leu)
c.6402C>G (p.Phe2134Leu)
c.5952C>G (p.Phe1984Leu)
c.5160C>G (p.Phe1720Leu)
c.8322C>G (p.Phe2774Leu)
 ClinVar dbSNP gnomAD v4
8g.60865264C>TCA461105875CHD7n.1501C>T
n.432C>T
c.*1384C>T (n.*1384C>T)
c.8325C>T (p.Phe2775=)
c.2178C>T (p.Phe726=)
n.371C>T
c.8415C>T (p.Phe2805=)
c.8412C>T (p.Phe2804=)
c.8193C>T (p.Phe2731=)
c.6402C>T (p.Phe2134=)
c.5952C>T (p.Phe1984=)
c.5160C>T (p.Phe1720=)
c.8322C>T (p.Phe2774=)
 gnomAD v4
8g.60865265C>ACA371308402CHD7n.1502C>A
n.433C>A
c.*1385C>A (n.*1385C>A)
c.8326C>A (p.Pro2776Thr)
c.2179C>A (p.Pro727Thr)
n.372C>A
c.8416C>A (p.Pro2806Thr)
c.8413C>A (p.Pro2805Thr)
c.8194C>A (p.Pro2732Thr)
c.6403C>A (p.Pro2135Thr)
c.5953C>A (p.Pro1985Thr)
c.5161C>A (p.Pro1721Thr)
c.8323C>A (p.Pro2775Thr)
8g.60865265C=CA1788129689CHD7n.1502C=
n.433C=
c.*1385C= (n.*1385C=)
c.8326C= (p.Pro2776=)
c.2179C= (p.Pro727=)
n.372C=
c.8416C= (p.Pro2806=)
c.8413C= (p.Pro2805=)
c.8194C= (p.Pro2732=)
c.6403C= (p.Pro2135=)
c.5953C= (p.Pro1985=)
c.5161C= (p.Pro1721=)
c.8323C= (p.Pro2775=)
8g.60865265C>GCA371308405CHD7n.1502C>G
n.433C>G
c.*1385C>G (n.*1385C>G)
c.8326C>G (p.Pro2776Ala)
c.2179C>G (p.Pro727Ala)
n.372C>G
c.8416C>G (p.Pro2806Ala)
c.8413C>G (p.Pro2805Ala)
c.8194C>G (p.Pro2732Ala)
c.6403C>G (p.Pro2135Ala)
c.5953C>G (p.Pro1985Ala)
c.5161C>G (p.Pro1721Ala)
c.8323C>G (p.Pro2775Ala)
8g.60865265C>TCA4760989CHD7n.1502C>T
n.433C>T
c.*1385C>T (n.*1385C>T)
c.8326C>T (p.Pro2776Ser)
c.2179C>T (p.Pro727Ser)
n.372C>T
c.8416C>T (p.Pro2806Ser)
c.8413C>T (p.Pro2805Ser)
c.8194C>T (p.Pro2732Ser)
c.6403C>T (p.Pro2135Ser)
c.5953C>T (p.Pro1985Ser)
c.5161C>T (p.Pro1721Ser)
c.8323C>T (p.Pro2775Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60865266C>ACA371308414CHD7n.1503C>A
n.434C>A
c.*1386C>A (n.*1386C>A)
c.8327C>A (p.Pro2776His)
c.2180C>A (p.Pro727His)
n.373C>A
c.8417C>A (p.Pro2806His)
c.8414C>A (p.Pro2805His)
c.8195C>A (p.Pro2732His)
c.6404C>A (p.Pro2135His)
c.5954C>A (p.Pro1985His)
c.5162C>A (p.Pro1721His)
c.8324C>A (p.Pro2775His)
8g.60865266C=CA1788129691CHD7n.1503C=
n.434C=
c.*1386C= (n.*1386C=)
c.8327C= (p.Pro2776=)
c.2180C= (p.Pro727=)
n.373C=
c.8417C= (p.Pro2806=)
c.8414C= (p.Pro2805=)
c.8195C= (p.Pro2732=)
c.6404C= (p.Pro2135=)
c.5954C= (p.Pro1985=)
c.5162C= (p.Pro1721=)
c.8324C= (p.Pro2775=)
8g.60865266C>GCA371308417CHD7n.1503C>G
n.434C>G
c.*1386C>G (n.*1386C>G)
c.8327C>G (p.Pro2776Arg)
c.2180C>G (p.Pro727Arg)
n.373C>G
c.8417C>G (p.Pro2806Arg)
c.8414C>G (p.Pro2805Arg)
c.8195C>G (p.Pro2732Arg)
c.6404C>G (p.Pro2135Arg)
c.5954C>G (p.Pro1985Arg)
c.5162C>G (p.Pro1721Arg)
c.8324C>G (p.Pro2775Arg)
8g.60865266C>TCA371308420CHD7n.1503C>T
n.434C>T
c.*1386C>T (n.*1386C>T)
c.8327C>T (p.Pro2776Leu)
c.2180C>T (p.Pro727Leu)
n.373C>T
c.8417C>T (p.Pro2806Leu)
c.8414C>T (p.Pro2805Leu)
c.8195C>T (p.Pro2732Leu)
c.6404C>T (p.Pro2135Leu)
c.5954C>T (p.Pro1985Leu)
c.5162C>T (p.Pro1721Leu)
c.8324C>T (p.Pro2775Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.60865267T>ACA461105877CHD7n.1504T>A
n.435T>A
c.*1387T>A (n.*1387T>A)
c.8328T>A (p.Pro2776=)
c.2181T>A (p.Pro727=)
n.374T>A
c.8418T>A (p.Pro2806=)
c.8415T>A (p.Pro2805=)
c.8196T>A (p.Pro2732=)
c.6405T>A (p.Pro2135=)
c.5955T>A (p.Pro1985=)
c.5163T>A (p.Pro1721=)
c.8325T>A (p.Pro2775=)
8g.60865267T>CCA461105880CHD7n.1504T>C
n.435T>C
c.*1387T>C (n.*1387T>C)
c.8328T>C (p.Pro2776=)
c.2181T>C (p.Pro727=)
n.374T>C
c.8418T>C (p.Pro2806=)
c.8415T>C (p.Pro2805=)
c.8196T>C (p.Pro2732=)
c.6405T>C (p.Pro2135=)
c.5955T>C (p.Pro1985=)
c.5163T>C (p.Pro1721=)
c.8325T>C (p.Pro2775=)
8g.60865267T>GCA461105878CHD7n.1504T>G
n.435T>G
c.*1387T>G (n.*1387T>G)
c.8328T>G (p.Pro2776=)
c.2181T>G (p.Pro727=)
n.374T>G
c.8418T>G (p.Pro2806=)
c.8415T>G (p.Pro2805=)
c.8196T>G (p.Pro2732=)
c.6405T>G (p.Pro2135=)
c.5955T>G (p.Pro1985=)
c.5163T>G (p.Pro1721=)
c.8325T>G (p.Pro2775=)
8g.60865268C>ACA371308425CHD7n.1505C>A
n.436C>A
c.*1388C>A (n.*1388C>A)
c.8329C>A (p.Pro2777Thr)
c.2182C>A (p.Pro728Thr)
n.375C>A
c.8419C>A (p.Pro2807Thr)
c.8416C>A (p.Pro2806Thr)
c.8197C>A (p.Pro2733Thr)
c.6406C>A (p.Pro2136Thr)
c.5956C>A (p.Pro1986Thr)
c.5164C>A (p.Pro1722Thr)
c.8326C>A (p.Pro2776Thr)
 ClinVar gnomAD v4
8g.60865268C>GCA371308428CHD7n.1505C>G
n.436C>G
c.*1388C>G (n.*1388C>G)
c.8329C>G (p.Pro2777Ala)
c.2182C>G (p.Pro728Ala)
n.375C>G
c.8419C>G (p.Pro2807Ala)
c.8416C>G (p.Pro2806Ala)
c.8197C>G (p.Pro2733Ala)
c.6406C>G (p.Pro2136Ala)
c.5956C>G (p.Pro1986Ala)
c.5164C>G (p.Pro1722Ala)
c.8326C>G (p.Pro2776Ala)
 gnomAD v4
8g.60865268C>TCA371308432CHD7n.1505C>T
n.436C>T
c.*1388C>T (n.*1388C>T)
c.8329C>T (p.Pro2777Ser)
c.2182C>T (p.Pro728Ser)
n.375C>T
c.8419C>T (p.Pro2807Ser)
c.8416C>T (p.Pro2806Ser)
c.8197C>T (p.Pro2733Ser)
c.6406C>T (p.Pro2136Ser)
c.5956C>T (p.Pro1986Ser)
c.5164C>T (p.Pro1722Ser)
c.8326C>T (p.Pro2776Ser)
8g.60865269C>ACA371308436CHD7n.1506C>A
n.437C>A
c.*1389C>A (n.*1389C>A)
c.8330C>A (p.Pro2777Gln)
c.2183C>A (p.Pro728Gln)
n.376C>A
c.8420C>A (p.Pro2807Gln)
c.8417C>A (p.Pro2806Gln)
c.8198C>A (p.Pro2733Gln)
c.6407C>A (p.Pro2136Gln)
c.5957C>A (p.Pro1986Gln)
c.5165C>A (p.Pro1722Gln)
c.8327C>A (p.Pro2776Gln)
8g.60865269C>GCA371308440CHD7n.1506C>G
n.437C>G
c.*1389C>G (n.*1389C>G)
c.8330C>G (p.Pro2777Arg)
c.2183C>G (p.Pro728Arg)
n.376C>G
c.8420C>G (p.Pro2807Arg)
c.8417C>G (p.Pro2806Arg)
c.8198C>G (p.Pro2733Arg)
c.6407C>G (p.Pro2136Arg)
c.5957C>G (p.Pro1986Arg)
c.5165C>G (p.Pro1722Arg)
c.8327C>G (p.Pro2776Arg)
8g.60865269C>TCA371308445CHD7n.1506C>T
n.437C>T
c.*1389C>T (n.*1389C>T)
c.8330C>T (p.Pro2777Leu)
c.2183C>T (p.Pro728Leu)
n.376C>T
c.8420C>T (p.Pro2807Leu)
c.8417C>T (p.Pro2806Leu)
c.8198C>T (p.Pro2733Leu)
c.6407C>T (p.Pro2136Leu)
c.5957C>T (p.Pro1986Leu)
c.5165C>T (p.Pro1722Leu)
c.8327C>T (p.Pro2776Leu)
8g.60865270A>CCA461105884CHD7n.1507A>C
n.438A>C
c.*1390A>C (n.*1390A>C)
c.8331A>C (p.Pro2777=)
c.2184A>C (p.Pro728=)
n.377A>C
c.8421A>C (p.Pro2807=)
c.8418A>C (p.Pro2806=)
c.8199A>C (p.Pro2733=)
c.6408A>C (p.Pro2136=)
c.5958A>C (p.Pro1986=)
c.5166A>C (p.Pro1722=)
c.8328A>C (p.Pro2776=)
8g.60865270A>GCA461105885CHD7n.1507A>G
n.438A>G
c.*1390A>G (n.*1390A>G)
c.8331A>G (p.Pro2777=)
c.2184A>G (p.Pro728=)
n.377A>G
c.8421A>G (p.Pro2807=)
c.8418A>G (p.Pro2806=)
c.8199A>G (p.Pro2733=)
c.6408A>G (p.Pro2136=)
c.5958A>G (p.Pro1986=)
c.5166A>G (p.Pro1722=)
c.8328A>G (p.Pro2776=)
 gnomAD v4
8g.60865270A>TCA461105886CHD7n.1507A>T
n.438A>T
c.*1390A>T (n.*1390A>T)
c.8331A>T (p.Pro2777=)
c.2184A>T (p.Pro728=)
n.377A>T
c.8421A>T (p.Pro2807=)
c.8418A>T (p.Pro2806=)
c.8199A>T (p.Pro2733=)
c.6408A>T (p.Pro2136=)
c.5958A>T (p.Pro1986=)
c.5166A>T (p.Pro1722=)
c.8328A>T (p.Pro2776=)
8g.60865271G>ACA371308453CHD7n.1508G>A
n.439G>A
c.*1391G>A (n.*1391G>A)
c.8332G>A (p.Gly2778Arg)
c.2185G>A (p.Gly729Arg)
n.378G>A
c.8422G>A (p.Gly2808Arg)
c.8419G>A (p.Gly2807Arg)
c.8200G>A (p.Gly2734Arg)
c.6409G>A (p.Gly2137Arg)
c.5959G>A (p.Gly1987Arg)
c.5167G>A (p.Gly1723Arg)
c.8329G>A (p.Gly2777Arg)
 ClinVar dbSNP
8g.60865271G>CCA371308457CHD7n.1508G>C
n.439G>C
c.*1391G>C (n.*1391G>C)
c.8332G>C (p.Gly2778Arg)
c.2185G>C (p.Gly729Arg)
n.378G>C
c.8422G>C (p.Gly2808Arg)
c.8419G>C (p.Gly2807Arg)
c.8200G>C (p.Gly2734Arg)
c.6409G>C (p.Gly2137Arg)
c.5959G>C (p.Gly1987Arg)
c.5167G>C (p.Gly1723Arg)
c.8329G>C (p.Gly2777Arg)
8g.60865271G=CA1788129698CHD7n.1508G=
n.439G=
c.*1391G= (n.*1391G=)
c.8332G= (p.Gly2778=)
c.2185G= (p.Gly729=)
n.378G=
c.8422G= (p.Gly2808=)
c.8419G= (p.Gly2807=)
c.8200G= (p.Gly2734=)
c.6409G= (p.Gly2137=)
c.5959G= (p.Gly1987=)
c.5167G= (p.Gly1723=)
c.8329G= (p.Gly2777=)
8g.60865271G>TCA371308450CHD7n.1508G>T
n.439G>T
c.*1391G>T (n.*1391G>T)
c.8332G>T (p.Gly2778Ter)
c.2185G>T (p.Gly729Ter)
n.378G>T
c.8422G>T (p.Gly2808Ter)
c.8419G>T (p.Gly2807Ter)
c.8200G>T (p.Gly2734Ter)
c.6409G>T (p.Gly2137Ter)
c.5959G>T (p.Gly1987Ter)
c.5167G>T (p.Gly1723Ter)
c.8329G>T (p.Gly2777Ter)
8g.60865272G>ACA371308461CHD7n.1509G>A
n.440G>A
c.*1392G>A (n.*1392G>A)
c.8333G>A (p.Gly2778Glu)
c.2186G>A (p.Gly729Glu)
n.379G>A
c.8423G>A (p.Gly2808Glu)
c.8420G>A (p.Gly2807Glu)
c.8201G>A (p.Gly2734Glu)
c.6410G>A (p.Gly2137Glu)
c.5960G>A (p.Gly1987Glu)
c.5168G>A (p.Gly1723Glu)
c.8330G>A (p.Gly2777Glu)
8g.60865272G>CCA371308466CHD7n.1509G>C
n.440G>C
c.*1392G>C (n.*1392G>C)
c.8333G>C (p.Gly2778Ala)
c.2186G>C (p.Gly729Ala)
n.379G>C
c.8423G>C (p.Gly2808Ala)
c.8420G>C (p.Gly2807Ala)
c.8201G>C (p.Gly2734Ala)
c.6410G>C (p.Gly2137Ala)
c.5960G>C (p.Gly1987Ala)
c.5168G>C (p.Gly1723Ala)
c.8330G>C (p.Gly2777Ala)
 dbSNP
8g.60865272G=CA1788129708CHD7n.1509G=
n.440G=
c.*1392G= (n.*1392G=)
c.8333G= (p.Gly2778=)
c.2186G= (p.Gly729=)
n.379G=
c.8423G= (p.Gly2808=)
c.8420G= (p.Gly2807=)
c.8201G= (p.Gly2734=)
c.6410G= (p.Gly2137=)
c.5960G= (p.Gly1987=)
c.5168G= (p.Gly1723=)
c.8330G= (p.Gly2777=)
8g.60865272G>TCA4760990CHD7n.1509G>T
n.440G>T
c.*1392G>T (n.*1392G>T)
c.8333G>T (p.Gly2778Val)
c.2186G>T (p.Gly729Val)
n.379G>T
c.8423G>T (p.Gly2808Val)
c.8420G>T (p.Gly2807Val)
c.8201G>T (p.Gly2734Val)
c.6410G>T (p.Gly2137Val)
c.5960G>T (p.Gly1987Val)
c.5168G>T (p.Gly1723Val)
c.8330G>T (p.Gly2777Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60865273A=CA1788129710CHD7n.1510A=
n.441A=
c.*1393A= (n.*1393A=)
c.8334A= (p.Gly2778=)
c.2187A= (p.Gly729=)
n.380A=
c.8424A= (p.Gly2808=)
c.8421A= (p.Gly2807=)
c.8202A= (p.Gly2734=)
c.6411A= (p.Gly2137=)
c.5961A= (p.Gly1987=)
c.5169A= (p.Gly1723=)
c.8331A= (p.Gly2777=)
8g.60865273A>CCA461105891CHD7n.1510A>C
n.441A>C
c.*1393A>C (n.*1393A>C)
c.8334A>C (p.Gly2778=)
c.2187A>C (p.Gly729=)
n.380A>C
c.8424A>C (p.Gly2808=)
c.8421A>C (p.Gly2807=)
c.8202A>C (p.Gly2734=)
c.6411A>C (p.Gly2137=)
c.5961A>C (p.Gly1987=)
c.5169A>C (p.Gly1723=)
c.8331A>C (p.Gly2777=)
8g.60865273A>GCA461105892CHD7n.1510A>G
n.441A>G
c.*1393A>G (n.*1393A>G)
c.8334A>G (p.Gly2778=)
c.2187A>G (p.Gly729=)
n.380A>G
c.8424A>G (p.Gly2808=)
c.8421A>G (p.Gly2807=)
c.8202A>G (p.Gly2734=)
c.6411A>G (p.Gly2137=)
c.5961A>G (p.Gly1987=)
c.5169A>G (p.Gly1723=)
c.8331A>G (p.Gly2777=)
8g.60865273A>TCA461105893CHD7n.1510A>T
n.441A>T
c.*1393A>T (n.*1393A>T)
c.8334A>T (p.Gly2778=)
c.2187A>T (p.Gly729=)
n.380A>T
c.8424A>T (p.Gly2808=)
c.8421A>T (p.Gly2807=)
c.8202A>T (p.Gly2734=)
c.6411A>T (p.Gly2137=)
c.5961A>T (p.Gly1987=)
c.5169A>T (p.Gly1723=)
c.8331A>T (p.Gly2777=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60865274C>ACA371308473CHD7n.1511C>A
n.442C>A
c.*1394C>A (n.*1394C>A)
c.8335C>A (p.Leu2779Met)
c.2188C>A (p.Leu730Met)
n.381C>A
c.8425C>A (p.Leu2809Met)
c.8422C>A (p.Leu2808Met)
c.8203C>A (p.Leu2735Met)
c.6412C>A (p.Leu2138Met)
c.5962C>A (p.Leu1988Met)
c.5170C>A (p.Leu1724Met)
c.8332C>A (p.Leu2778Met)
 gnomAD v4
8g.60865274C>GCA371308475CHD7n.1511C>G
n.442C>G
c.*1394C>G (n.*1394C>G)
c.8335C>G (p.Leu2779Val)
c.2188C>G (p.Leu730Val)
n.381C>G
c.8425C>G (p.Leu2809Val)
c.8422C>G (p.Leu2808Val)
c.8203C>G (p.Leu2735Val)
c.6412C>G (p.Leu2138Val)
c.5962C>G (p.Leu1988Val)
c.5170C>G (p.Leu1724Val)
c.8332C>G (p.Leu2778Val)
8g.60865274C>TCA461105894CHD7n.1511C>T
n.442C>T
c.*1394C>T (n.*1394C>T)
c.8335C>T (p.Leu2779=)
c.2188C>T (p.Leu730=)
n.381C>T
c.8425C>T (p.Leu2809=)
c.8422C>T (p.Leu2808=)
c.8203C>T (p.Leu2735=)
c.6412C>T (p.Leu2138=)
c.5962C>T (p.Leu1988=)
c.5170C>T (p.Leu1724=)
c.8332C>T (p.Leu2778=)
8g.60865275T>ACA371308483CHD7n.1512T>A
n.443T>A
c.*1395T>A (n.*1395T>A)
c.8336T>A (p.Leu2779Gln)
c.2189T>A (p.Leu730Gln)
n.382T>A
c.8426T>A (p.Leu2809Gln)
c.8423T>A (p.Leu2808Gln)
c.8204T>A (p.Leu2735Gln)
c.6413T>A (p.Leu2138Gln)
c.5963T>A (p.Leu1988Gln)
c.5171T>A (p.Leu1724Gln)
c.8333T>A (p.Leu2778Gln)
8g.60865275T>CCA371308481CHD7n.1512T>C
n.443T>C
c.*1395T>C (n.*1395T>C)
c.8336T>C (p.Leu2779Pro)
c.2189T>C (p.Leu730Pro)
n.382T>C
c.8426T>C (p.Leu2809Pro)
c.8423T>C (p.Leu2808Pro)
c.8204T>C (p.Leu2735Pro)
c.6413T>C (p.Leu2138Pro)
c.5963T>C (p.Leu1988Pro)
c.5171T>C (p.Leu1724Pro)
c.8333T>C (p.Leu2778Pro)
8g.60865275T>GCA371308478CHD7n.1512T>G
n.443T>G
c.*1395T>G (n.*1395T>G)
c.8336T>G (p.Leu2779Arg)
c.2189T>G (p.Leu730Arg)
n.382T>G
c.8426T>G (p.Leu2809Arg)
c.8423T>G (p.Leu2808Arg)
c.8204T>G (p.Leu2735Arg)
c.6413T>G (p.Leu2138Arg)
c.5963T>G (p.Leu1988Arg)
c.5171T>G (p.Leu1724Arg)
c.8333T>G (p.Leu2778Arg)
8g.60865276G>ACA461105895CHD7n.1513G>A
n.444G>A
c.*1396G>A (n.*1396G>A)
c.8337G>A (p.Leu2779=)
c.2190G>A (p.Leu730=)
n.383G>A
c.8427G>A (p.Leu2809=)
c.8424G>A (p.Leu2808=)
c.8205G>A (p.Leu2735=)
c.6414G>A (p.Leu2138=)
c.5964G>A (p.Leu1988=)
c.5172G>A (p.Leu1724=)
c.8334G>A (p.Leu2778=)
8g.60865276G>CCA461105896CHD7n.1513G>C
n.444G>C
c.*1396G>C (n.*1396G>C)
c.8337G>C (p.Leu2779=)
c.2190G>C (p.Leu730=)
n.383G>C
c.8427G>C (p.Leu2809=)
c.8424G>C (p.Leu2808=)
c.8205G>C (p.Leu2735=)
c.6414G>C (p.Leu2138=)
c.5964G>C (p.Leu1988=)
c.5172G>C (p.Leu1724=)
c.8334G>C (p.Leu2778=)
8g.60865276G>TCA461105897CHD7n.1513G>T
n.444G>T
c.*1396G>T (n.*1396G>T)
c.8337G>T (p.Leu2779=)
c.2190G>T (p.Leu730=)
n.383G>T
c.8427G>T (p.Leu2809=)
c.8424G>T (p.Leu2808=)
c.8205G>T (p.Leu2735=)
c.6414G>T (p.Leu2138=)
c.5964G>T (p.Leu1988=)
c.5172G>T (p.Leu1724=)
c.8334G>T (p.Leu2778=)
8g.60865277G>ACA371308490CHD7n.1514G>A
n.445G>A
c.*1397G>A (n.*1397G>A)
c.8338G>A (p.Ala2780Thr)
c.2191G>A (p.Ala731Thr)
n.384G>A
c.8428G>A (p.Ala2810Thr)
c.8425G>A (p.Ala2809Thr)
c.8206G>A (p.Ala2736Thr)
c.6415G>A (p.Ala2139Thr)
c.5965G>A (p.Ala1989Thr)
c.5173G>A (p.Ala1725Thr)
c.8335G>A (p.Ala2779Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.60865277G>CCA371308495CHD7n.1514G>C
n.445G>C
c.*1397G>C (n.*1397G>C)
c.8338G>C (p.Ala2780Pro)
c.2191G>C (p.Ala731Pro)
n.384G>C
c.8428G>C (p.Ala2810Pro)
c.8425G>C (p.Ala2809Pro)
c.8206G>C (p.Ala2736Pro)
c.6415G>C (p.Ala2139Pro)
c.5965G>C (p.Ala1989Pro)
c.5173G>C (p.Ala1725Pro)
c.8335G>C (p.Ala2779Pro)
8g.60865277G=CA1788129716CHD7n.1514G=
n.445G=
c.*1397G= (n.*1397G=)
c.8338G= (p.Ala2780=)
c.2191G= (p.Ala731=)
n.384G=
c.8428G= (p.Ala2810=)
c.8425G= (p.Ala2809=)
c.8206G= (p.Ala2736=)
c.6415G= (p.Ala2139=)
c.5965G= (p.Ala1989=)
c.5173G= (p.Ala1725=)
c.8335G= (p.Ala2779=)
8g.60865277G>TCA371308498CHD7n.1514G>T
n.445G>T
c.*1397G>T (n.*1397G>T)
c.8338G>T (p.Ala2780Ser)
c.2191G>T (p.Ala731Ser)
n.384G>T
c.8428G>T (p.Ala2810Ser)
c.8425G>T (p.Ala2809Ser)
c.8206G>T (p.Ala2736Ser)
c.6415G>T (p.Ala2139Ser)
c.5965G>T (p.Ala1989Ser)
c.5173G>T (p.Ala1725Ser)
c.8335G>T (p.Ala2779Ser)
 gnomAD v4
8g.60865278C>ACA371308504CHD7n.1515C>A
n.446C>A
c.*1398C>A (n.*1398C>A)
c.8339C>A (p.Ala2780Glu)
c.2192C>A (p.Ala731Glu)
n.385C>A
c.8429C>A (p.Ala2810Glu)
c.8426C>A (p.Ala2809Glu)
c.8207C>A (p.Ala2736Glu)
c.6416C>A (p.Ala2139Glu)
c.5966C>A (p.Ala1989Glu)
c.5174C>A (p.Ala1725Glu)
c.8336C>A (p.Ala2779Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.60865278C=CA1788129726CHD7n.1515C=
n.446C=
c.*1398C= (n.*1398C=)
c.8339C= (p.Ala2780=)
c.2192C= (p.Ala731=)
n.385C=
c.8429C= (p.Ala2810=)
c.8426C= (p.Ala2809=)
c.8207C= (p.Ala2736=)
c.6416C= (p.Ala2139=)
c.5966C= (p.Ala1989=)
c.5174C= (p.Ala1725=)
c.8336C= (p.Ala2779=)
8g.60865278C>GCA371308507CHD7n.1515C>G
n.446C>G
c.*1398C>G (n.*1398C>G)
c.8339C>G (p.Ala2780Gly)
c.2192C>G (p.Ala731Gly)
n.385C>G
c.8429C>G (p.Ala2810Gly)
c.8426C>G (p.Ala2809Gly)
c.8207C>G (p.Ala2736Gly)
c.6416C>G (p.Ala2139Gly)
c.5966C>G (p.Ala1989Gly)
c.5174C>G (p.Ala1725Gly)
c.8336C>G (p.Ala2779Gly)
8g.60865278C>TCA4760991CHD7n.1515C>T
n.446C>T
c.*1398C>T (n.*1398C>T)
c.8339C>T (p.Ala2780Val)
c.2192C>T (p.Ala731Val)
n.385C>T
c.8429C>T (p.Ala2810Val)
c.8426C>T (p.Ala2809Val)
c.8207C>T (p.Ala2736Val)
c.6416C>T (p.Ala2139Val)
c.5966C>T (p.Ala1989Val)
c.5174C>T (p.Ala1725Val)
c.8336C>T (p.Ala2779Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60865279A=CA1788129730CHD7n.1516A=
n.447A=
c.*1399A= (n.*1399A=)
c.8340A= (p.Ala2780=)
c.2193A= (p.Ala731=)
n.386A=
c.8430A= (p.Ala2810=)
c.8427A= (p.Ala2809=)
c.8208A= (p.Ala2736=)
c.6417A= (p.Ala2139=)
c.5967A= (p.Ala1989=)
c.5175A= (p.Ala1725=)
c.8337A= (p.Ala2779=)
8g.60865279A>CCA461105898CHD7n.1516A>C
n.447A>C
c.*1399A>C (n.*1399A>C)
c.8340A>C (p.Ala2780=)
c.2193A>C (p.Ala731=)
n.386A>C
c.8430A>C (p.Ala2810=)
c.8427A>C (p.Ala2809=)
c.8208A>C (p.Ala2736=)
c.6417A>C (p.Ala2139=)
c.5967A>C (p.Ala1989=)
c.5175A>C (p.Ala1725=)
c.8337A>C (p.Ala2779=)
8g.60865279A>GCA461105900CHD7n.1516A>G
n.447A>G
c.*1399A>G (n.*1399A>G)
c.8340A>G (p.Ala2780=)
c.2193A>G (p.Ala731=)
n.386A>G
c.8430A>G (p.Ala2810=)
c.8427A>G (p.Ala2809=)
c.8208A>G (p.Ala2736=)
c.6417A>G (p.Ala2139=)
c.5967A>G (p.Ala1989=)
c.5175A>G (p.Ala1725=)
c.8337A>G (p.Ala2779=)
 dbSNP gnomAD v3 gnomAD v4
8g.60865279A>TCA461105899CHD7n.1516A>T
n.447A>T
c.*1399A>T (n.*1399A>T)
c.8340A>T (p.Ala2780=)
c.2193A>T (p.Ala731=)
n.386A>T
c.8430A>T (p.Ala2810=)
c.8427A>T (p.Ala2809=)
c.8208A>T (p.Ala2736=)
c.6417A>T (p.Ala2139=)
c.5967A>T (p.Ala1989=)
c.5175A>T (p.Ala1725=)
c.8337A>T (p.Ala2779=)
8g.60865280A>CCA371308514CHD7n.1517A>C
n.448A>C
c.*1400A>C (n.*1400A>C)
c.8341A>C (p.Thr2781Pro)
c.2194A>C (p.Thr732Pro)
n.387A>C
c.8431A>C (p.Thr2811Pro)
c.8428A>C (p.Thr2810Pro)
c.8209A>C (p.Thr2737Pro)
c.6418A>C (p.Thr2140Pro)
c.5968A>C (p.Thr1990Pro)
c.5176A>C (p.Thr1726Pro)
c.8338A>C (p.Thr2780Pro)
8g.60865280A>GCA371308521CHD7n.1517A>G
n.448A>G
c.*1400A>G (n.*1400A>G)
c.8341A>G (p.Thr2781Ala)
c.2194A>G (p.Thr732Ala)
n.387A>G
c.8431A>G (p.Thr2811Ala)
c.8428A>G (p.Thr2810Ala)
c.8209A>G (p.Thr2737Ala)
c.6418A>G (p.Thr2140Ala)
c.5968A>G (p.Thr1990Ala)
c.5176A>G (p.Thr1726Ala)
c.8338A>G (p.Thr2780Ala)
8g.60865280A>TCA371308518CHD7n.1517A>T
n.448A>T
c.*1400A>T (n.*1400A>T)
c.8341A>T (p.Thr2781Ser)
c.2194A>T (p.Thr732Ser)
n.387A>T
c.8431A>T (p.Thr2811Ser)
c.8428A>T (p.Thr2810Ser)
c.8209A>T (p.Thr2737Ser)
c.6418A>T (p.Thr2140Ser)
c.5968A>T (p.Thr1990Ser)
c.5176A>T (p.Thr1726Ser)
c.8338A>T (p.Thr2780Ser)
8g.60865281C>ACA371308527CHD7n.1518C>A
n.449C>A
c.*1401C>A (n.*1401C>A)
c.8342C>A (p.Thr2781Lys)
c.2195C>A (p.Thr732Lys)
n.388C>A
c.8432C>A (p.Thr2811Lys)
c.8429C>A (p.Thr2810Lys)
c.8210C>A (p.Thr2737Lys)
c.6419C>A (p.Thr2140Lys)
c.5969C>A (p.Thr1990Lys)
c.5177C>A (p.Thr1726Lys)
c.8339C>A (p.Thr2780Lys)
8g.60865281C=CA1788129736CHD7n.1518C=
n.449C=
c.*1401C= (n.*1401C=)
c.8342C= (p.Thr2781=)
c.2195C= (p.Thr732=)
n.388C=
c.8432C= (p.Thr2811=)
c.8429C= (p.Thr2810=)
c.8210C= (p.Thr2737=)
c.6419C= (p.Thr2140=)
c.5969C= (p.Thr1990=)
c.5177C= (p.Thr1726=)
c.8339C= (p.Thr2780=)
8g.60865281C>GCA371308530CHD7n.1518C>G
n.449C>G
c.*1401C>G (n.*1401C>G)
c.8342C>G (p.Thr2781Arg)
c.2195C>G (p.Thr732Arg)
n.388C>G
c.8432C>G (p.Thr2811Arg)
c.8429C>G (p.Thr2810Arg)
c.8210C>G (p.Thr2737Arg)
c.6419C>G (p.Thr2140Arg)
c.5969C>G (p.Thr1990Arg)
c.5177C>G (p.Thr1726Arg)
c.8339C>G (p.Thr2780Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.60865281C>TCA371308534CHD7n.1518C>T
n.449C>T
c.*1401C>T (n.*1401C>T)
c.8342C>T (p.Thr2781Ile)
c.2195C>T (p.Thr732Ile)
n.388C>T
c.8432C>T (p.Thr2811Ile)
c.8429C>T (p.Thr2810Ile)
c.8210C>T (p.Thr2737Ile)
c.6419C>T (p.Thr2140Ile)
c.5969C>T (p.Thr1990Ile)
c.5177C>T (p.Thr1726Ile)
c.8339C>T (p.Thr2780Ile)
 gnomAD v4
8g.60865282A>CCA461105901CHD7n.1519A>C
n.450A>C
c.*1402A>C (n.*1402A>C)
c.8343A>C (p.Thr2781=)
c.2196A>C (p.Thr732=)
n.389A>C
c.8433A>C (p.Thr2811=)
c.8430A>C (p.Thr2810=)
c.8211A>C (p.Thr2737=)
c.6420A>C (p.Thr2140=)
c.5970A>C (p.Thr1990=)
c.5178A>C (p.Thr1726=)
c.8340A>C (p.Thr2780=)
8g.60865282A>GCA461105902CHD7n.1519A>G
n.450A>G
c.*1402A>G (n.*1402A>G)
c.8343A>G (p.Thr2781=)
c.2196A>G (p.Thr732=)
n.389A>G
c.8433A>G (p.Thr2811=)
c.8430A>G (p.Thr2810=)
c.8211A>G (p.Thr2737=)
c.6420A>G (p.Thr2140=)
c.5970A>G (p.Thr1990=)
c.5178A>G (p.Thr1726=)
c.8340A>G (p.Thr2780=)
8g.60865282A>TCA461105903CHD7n.1519A>T
n.450A>T
c.*1402A>T (n.*1402A>T)
c.8343A>T (p.Thr2781=)
c.2196A>T (p.Thr732=)
n.389A>T
c.8433A>T (p.Thr2811=)
c.8430A>T (p.Thr2810=)
c.8211A>T (p.Thr2737=)
c.6420A>T (p.Thr2140=)
c.5970A>T (p.Thr1990=)
c.5178A>T (p.Thr1726=)
c.8340A>T (p.Thr2780=)
8g.60865283G>ACA371308539CHD7n.1520G>A
n.451G>A
c.*1403G>A (n.*1403G>A)
c.8344G>A (p.Ala2782Thr)
c.2197G>A (p.Ala733Thr)
n.390G>A
c.8434G>A (p.Ala2812Thr)
c.8431G>A (p.Ala2811Thr)
c.8212G>A (p.Ala2738Thr)
c.6421G>A (p.Ala2141Thr)
c.5971G>A (p.Ala1991Thr)
c.5179G>A (p.Ala1727Thr)
c.8341G>A (p.Ala2781Thr)
 gnomAD v4
8g.60865283G>CCA371308542CHD7n.1520G>C
n.451G>C
c.*1403G>C (n.*1403G>C)
c.8344G>C (p.Ala2782Pro)
c.2197G>C (p.Ala733Pro)
n.390G>C
c.8434G>C (p.Ala2812Pro)
c.8431G>C (p.Ala2811Pro)
c.8212G>C (p.Ala2738Pro)
c.6421G>C (p.Ala2141Pro)
c.5971G>C (p.Ala1991Pro)
c.5179G>C (p.Ala1727Pro)
c.8341G>C (p.Ala2781Pro)
8g.60865283G>TCA371308545CHD7n.1520G>T
n.451G>T
c.*1403G>T (n.*1403G>T)
c.8344G>T (p.Ala2782Ser)
c.2197G>T (p.Ala733Ser)
n.390G>T
c.8434G>T (p.Ala2812Ser)
c.8431G>T (p.Ala2811Ser)
c.8212G>T (p.Ala2738Ser)
c.6421G>T (p.Ala2141Ser)
c.5971G>T (p.Ala1991Ser)
c.5179G>T (p.Ala1727Ser)
c.8341G>T (p.Ala2781Ser)
 gnomAD v4
8g.60865284C>ACA371308550CHD7n.1521C>A
n.452C>A
c.*1404C>A (n.*1404C>A)
c.8345C>A (p.Ala2782Asp)
c.2198C>A (p.Ala733Asp)
n.391C>A
c.8435C>A (p.Ala2812Asp)
c.8432C>A (p.Ala2811Asp)
c.8213C>A (p.Ala2738Asp)
c.6422C>A (p.Ala2141Asp)
c.5972C>A (p.Ala1991Asp)
c.5180C>A (p.Ala1727Asp)
c.8342C>A (p.Ala2781Asp)
 gnomAD v4
8g.60865284C=CA1788129741CHD7n.1521C=
n.452C=
c.*1404C= (n.*1404C=)
c.8345C= (p.Ala2782=)
c.2198C= (p.Ala733=)
n.391C=
c.8435C= (p.Ala2812=)
c.8432C= (p.Ala2811=)
c.8213C= (p.Ala2738=)
c.6422C= (p.Ala2141=)
c.5972C= (p.Ala1991=)
c.5180C= (p.Ala1727=)
c.8342C= (p.Ala2781=)
8g.60865284C>GCA371308552CHD7n.1521C>G
n.452C>G
c.*1404C>G (n.*1404C>G)
c.8345C>G (p.Ala2782Gly)
c.2198C>G (p.Ala733Gly)
n.391C>G
c.8435C>G (p.Ala2812Gly)
c.8432C>G (p.Ala2811Gly)
c.8213C>G (p.Ala2738Gly)
c.6422C>G (p.Ala2141Gly)
c.5972C>G (p.Ala1991Gly)
c.5180C>G (p.Ala1727Gly)
c.8342C>G (p.Ala2781Gly)
8g.60865284C>TCA371308562CHD7n.1521C>T
n.452C>T
c.*1404C>T (n.*1404C>T)
c.8345C>T (p.Ala2782Val)
c.2198C>T (p.Ala733Val)
n.391C>T
c.8435C>T (p.Ala2812Val)
c.8432C>T (p.Ala2811Val)
c.8213C>T (p.Ala2738Val)
c.6422C>T (p.Ala2141Val)
c.5972C>T (p.Ala1991Val)
c.5180C>T (p.Ala1727Val)
c.8342C>T (p.Ala2781Val)
 dbSNP
8g.60865285T>ACA461105904CHD7n.1522T>A
n.453T>A
c.*1405T>A (n.*1405T>A)
c.8346T>A (p.Ala2782=)
c.2199T>A (p.Ala733=)
n.392T>A
c.8436T>A (p.Ala2812=)
c.8433T>A (p.Ala2811=)
c.8214T>A (p.Ala2738=)
c.6423T>A (p.Ala2141=)
c.5973T>A (p.Ala1991=)
c.5181T>A (p.Ala1727=)
c.8343T>A (p.Ala2781=)
8g.60865285T>CCA461105905CHD7n.1522T>C
n.453T>C
c.*1405T>C (n.*1405T>C)
c.8346T>C (p.Ala2782=)
c.2199T>C (p.Ala733=)
n.392T>C
c.8436T>C (p.Ala2812=)
c.8433T>C (p.Ala2811=)
c.8214T>C (p.Ala2738=)
c.6423T>C (p.Ala2141=)
c.5973T>C (p.Ala1991=)
c.5181T>C (p.Ala1727=)
c.8343T>C (p.Ala2781=)
8g.60865285T>GCA461105906CHD7n.1522T>G
n.453T>G
c.*1405T>G (n.*1405T>G)
c.8346T>G (p.Ala2782=)
c.2199T>G (p.Ala733=)
n.392T>G
c.8436T>G (p.Ala2812=)
c.8433T>G (p.Ala2811=)
c.8214T>G (p.Ala2738=)
c.6423T>G (p.Ala2141=)
c.5973T>G (p.Ala1991=)
c.5181T>G (p.Ala1727=)
c.8343T>G (p.Ala2781=)
8g.60865286G>ACA371308567CHD7n.1523G>A
n.454G>A
c.*1406G>A (n.*1406G>A)
c.8347G>A (p.Ala2783Thr)
c.2200G>A (p.Ala734Thr)
n.393G>A
c.8437G>A (p.Ala2813Thr)
c.8434G>A (p.Ala2812Thr)
c.8215G>A (p.Ala2739Thr)
c.6424G>A (p.Ala2142Thr)
c.5974G>A (p.Ala1992Thr)
c.5182G>A (p.Ala1728Thr)
c.8344G>A (p.Ala2782Thr)
8g.60865286G>CCA371308570CHD7n.1523G>C
n.454G>C
c.*1406G>C (n.*1406G>C)
c.8347G>C (p.Ala2783Pro)
c.2200G>C (p.Ala734Pro)
n.393G>C
c.8437G>C (p.Ala2813Pro)
c.8434G>C (p.Ala2812Pro)
c.8215G>C (p.Ala2739Pro)
c.6424G>C (p.Ala2142Pro)
c.5974G>C (p.Ala1992Pro)
c.5182G>C (p.Ala1728Pro)
c.8344G>C (p.Ala2782Pro)
8g.60865286G>TCA371308572CHD7n.1523G>T
n.454G>T
c.*1406G>T (n.*1406G>T)
c.8347G>T (p.Ala2783Ser)
c.2200G>T (p.Ala734Ser)
n.393G>T
c.8437G>T (p.Ala2813Ser)
c.8434G>T (p.Ala2812Ser)
c.8215G>T (p.Ala2739Ser)
c.6424G>T (p.Ala2142Ser)
c.5974G>T (p.Ala1992Ser)
c.5182G>T (p.Ala1728Ser)
c.8344G>T (p.Ala2782Ser)
 gnomAD v4
8g.60865287C>ACA371308578CHD7n.1524C>A
n.455C>A
c.*1407C>A (n.*1407C>A)
c.8348C>A (p.Ala2783Asp)
c.2201C>A (p.Ala734Asp)
n.394C>A
c.8438C>A (p.Ala2813Asp)
c.8435C>A (p.Ala2812Asp)
c.8216C>A (p.Ala2739Asp)
c.6425C>A (p.Ala2142Asp)
c.5975C>A (p.Ala1992Asp)
c.5183C>A (p.Ala1728Asp)
c.8345C>A (p.Ala2782Asp)
8g.60865287C>GCA371308583CHD7n.1524C>G
n.455C>G
c.*1407C>G (n.*1407C>G)
c.8348C>G (p.Ala2783Gly)
c.2201C>G (p.Ala734Gly)
n.394C>G
c.8438C>G (p.Ala2813Gly)
c.8435C>G (p.Ala2812Gly)
c.8216C>G (p.Ala2739Gly)
c.6425C>G (p.Ala2142Gly)
c.5975C>G (p.Ala1992Gly)
c.5183C>G (p.Ala1728Gly)
c.8345C>G (p.Ala2782Gly)
8g.60865287C>TCA371308579CHD7n.1524C>T
n.455C>T
c.*1407C>T (n.*1407C>T)
c.8348C>T (p.Ala2783Val)
c.2201C>T (p.Ala734Val)
n.394C>T
c.8438C>T (p.Ala2813Val)
c.8435C>T (p.Ala2812Val)
c.8216C>T (p.Ala2739Val)
c.6425C>T (p.Ala2142Val)
c.5975C>T (p.Ala1992Val)
c.5183C>T (p.Ala1728Val)
c.8345C>T (p.Ala2782Val)
8g.60865288C>ACA461105907CHD7n.1525C>A
n.456C>A
c.*1408C>A (n.*1408C>A)
c.8349C>A (p.Ala2783=)
c.2202C>A (p.Ala734=)
n.395C>A
c.8439C>A (p.Ala2813=)
c.8436C>A (p.Ala2812=)
c.8217C>A (p.Ala2739=)
c.6426C>A (p.Ala2142=)
c.5976C>A (p.Ala1992=)
c.5184C>A (p.Ala1728=)
c.8346C>A (p.Ala2782=)
8g.60865288C>GCA461105908CHD7n.1525C>G
n.456C>G
c.*1408C>G (n.*1408C>G)
c.8349C>G (p.Ala2783=)
c.2202C>G (p.Ala734=)
n.395C>G
c.8439C>G (p.Ala2813=)
c.8436C>G (p.Ala2812=)
c.8217C>G (p.Ala2739=)
c.6426C>G (p.Ala2142=)
c.5976C>G (p.Ala1992=)
c.5184C>G (p.Ala1728=)
c.8346C>G (p.Ala2782=)
8g.60865288C>TCA461105909CHD7n.1525C>T
n.456C>T
c.*1408C>T (n.*1408C>T)
c.8349C>T (p.Ala2783=)
c.2202C>T (p.Ala734=)
n.395C>T
c.8439C>T (p.Ala2813=)
c.8436C>T (p.Ala2812=)
c.8217C>T (p.Ala2739=)
c.6426C>T (p.Ala2142=)
c.5976C>T (p.Ala1992=)
c.5184C>T (p.Ala1728=)
c.8346C>T (p.Ala2782=)
8g.60865289A=CA1788129770CHD7n.1526A=
n.457A=
c.*1409A= (n.*1409A=)
c.8350A= (p.Thr2784=)
c.2203A= (p.Thr735=)
n.396A=
c.8440A= (p.Thr2814=)
c.8437A= (p.Thr2813=)
c.8218A= (p.Thr2740=)
c.6427A= (p.Thr2143=)
c.5977A= (p.Thr1993=)
c.5185A= (p.Thr1729=)
c.8347A= (p.Thr2783=)
8g.60865289A>CCA371308588CHD7n.1526A>C
n.457A>C
c.*1409A>C (n.*1409A>C)
c.8350A>C (p.Thr2784Pro)
c.2203A>C (p.Thr735Pro)
n.396A>C
c.8440A>C (p.Thr2814Pro)
c.8437A>C (p.Thr2813Pro)
c.8218A>C (p.Thr2740Pro)
c.6427A>C (p.Thr2143Pro)
c.5977A>C (p.Thr1993Pro)
c.5185A>C (p.Thr1729Pro)
c.8347A>C (p.Thr2783Pro)
 dbSNP
8g.60865289A>GCA371308590CHD7n.1526A>G
n.457A>G
c.*1409A>G (n.*1409A>G)
c.8350A>G (p.Thr2784Ala)
c.2203A>G (p.Thr735Ala)
n.396A>G
c.8440A>G (p.Thr2814Ala)
c.8437A>G (p.Thr2813Ala)
c.8218A>G (p.Thr2740Ala)
c.6427A>G (p.Thr2143Ala)
c.5977A>G (p.Thr1993Ala)
c.5185A>G (p.Thr1729Ala)
c.8347A>G (p.Thr2783Ala)
8g.60865289A>TCA371308594CHD7n.1526A>T
n.457A>T
c.*1409A>T (n.*1409A>T)
c.8350A>T (p.Thr2784Ser)
c.2203A>T (p.Thr735Ser)
n.396A>T
c.8440A>T (p.Thr2814Ser)
c.8437A>T (p.Thr2813Ser)
c.8218A>T (p.Thr2740Ser)
c.6427A>T (p.Thr2143Ser)
c.5977A>T (p.Thr1993Ser)
c.5185A>T (p.Thr1729Ser)
c.8347A>T (p.Thr2783Ser)
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=)

Number of alleles fetched