Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60742920_60742935delinsACCTGGCCAACAACATCA1788098399CHD7n.2001_2016delinsACCTGGCCAACAACAT
c.1488_1503delinsACCTGGCCAACAACAT (p.Ile496=)
c.132_147delinsACCTGGCCAACAACAT
8g.60742926_60742940delCA853920786CHD7n.2007_2021del
c.1494_1508del (p.Gln499_Gly503del)
c.138_152del
 dbSNP gnomAD v3 gnomAD v4
8g.60742932_60742946delCA2687395202CHD7n.2013_2027del
c.1500_1514del (p.His501_Gln505del)
c.144_158del
 gnomAD v4
8g.60742933C>ACA371303222CHD7n.2014C>A
c.1501C>A (p.His501Asn)
c.145C>A
 gnomAD v4
8g.60742933C=CA1788085094CHD7n.2014C=
c.1501C= (p.His501=)
c.145C=
8g.60742933C>GCA371303224CHD7n.2014C>G
c.1501C>G (p.His501Asp)
c.145C>G
8g.60742933C>TCA177313558CHD7n.2014C>T
c.1501C>T (p.His501Tyr)
c.145C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60742934A=CA1788085101CHD7n.2015A=
c.1502A= (p.His501=)
c.146A=
8g.60742934A>CCA371303226CHD7n.2015A>C
c.1502A>C (p.His501Pro)
c.146A>C
8g.60742934A>GCA371303230CHD7n.2015A>G
c.1502A>G (p.His501Arg)
c.146A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60742934A>TCA371303228CHD7n.2015A>T
c.1502A>T (p.His501Leu)
c.146A>T
8g.60742935T>ACA4759503CHD7n.2016T>A
c.1503T>A (p.His501Gln)
c.147T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60742935T>CCA461103926CHD7n.2016T>C
c.1503T>C (p.His501=)
c.147T>C
8g.60742935T>GCA371303233CHD7n.2016T>G
c.1503T>G (p.His501Gln)
c.147T>G
8g.60742935T=CA1788085106CHD7n.2016T=
c.1503T= (p.His501=)
c.147T=
8g.60742935_60742936delinsTCCA1788085108CHD7n.2016_2017delinsTC
c.1503_1504delinsTC (p.His501=)
c.147_148delinsTC
8g.60742936C>ACA371303236CHD7n.2017C>A
c.1504C>A (p.Pro502Thr)
c.148C>A
8g.60742936C>GCA371303238CHD7n.2017C>G
c.1504C>G (p.Pro502Ala)
c.148C>G
 gnomAD v4
8g.60742936C>TCA371303240CHD7n.2017C>T
c.1504C>T (p.Pro502Ser)
c.148C>T
 gnomAD v4
8g.60742937delCA338722CHD7n.2018del
c.1505del (p.Pro502LeufsTer?)
c.149del
 ClinVar dbSNP
8g.60742937C>ACA371303243CHD7n.2018C>A
c.1505C>A (p.Pro502His)
c.149C>A
8g.60742937C>GCA371303244CHD7n.2018C>G
c.1505C>G (p.Pro502Arg)
c.149C>G
8g.60742937C>TCA371303246CHD7n.2018C>T
c.1505C>T (p.Pro502Leu)
c.149C>T
8g.60742937_60742940delCA2695209575CHD7n.2018_2021del
c.1505_1508del (p.Pro502LeufsTer?)
c.149_152del
8g.60742938T>ACA461103927CHD7n.2019T>A
c.1506T>A (p.Pro502=)
c.150T>A
8g.60742938T>CCA461103928CHD7n.2019T>C
c.1506T>C (p.Pro502=)
c.150T>C
8g.60742938T>GCA461103929CHD7n.2019T>G
c.1506T>G (p.Pro502=)
c.150T>G
 dbSNP gnomAD v4
8g.60742938T=CA1788085121CHD7n.2019T=
c.1506T= (p.Pro502=)
c.150T=
8g.60742939G>ACA371303248CHD7n.2020G>A
c.1507G>A (p.Gly503Ser)
c.151G>A
8g.60742939G>CCA371303249CHD7n.2020G>C
c.1507G>C (p.Gly503Arg)
c.151G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60742939G=CA1788085127CHD7n.2020G=
c.1507G= (p.Gly503=)
c.151G=
8g.60742939G>TCA371303251CHD7n.2020G>T
c.1507G>T (p.Gly503Cys)
c.151G>T
8g.60742940G>ACA371303254CHD7n.2021G>A
c.1508G>A (p.Gly503Asp)
c.152G>A
8g.60742940G>CCA371303255CHD7n.2021G>C
c.1508G>C (p.Gly503Ala)
c.152G>C
8g.60742940G>TCA371303257CHD7n.2021G>T
c.1508G>T (p.Gly503Val)
c.152G>T
8g.60742941T>ACA461103934CHD7n.2022T>A
c.1509T>A (p.Gly503=)
c.153T>A
8g.60742941T>CCA4759504CHD7n.2022T>C
c.1509T>C (p.Gly503=)
c.153T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60742941T>GCA461103933CHD7n.2022T>G
c.1509T>G (p.Gly503=)
c.153T>G
8g.60742941T=CA1788085132CHD7n.2022T=
c.1509T= (p.Gly503=)
c.153T=
8g.60742942C>ACA371303261CHD7n.2023C>A
c.1510C>A (p.Gln504Lys)
c.154C>A
 gnomAD v4
8g.60742942C>GCA371303263CHD7n.2023C>G
c.1510C>G (p.Gln504Glu)
c.154C>G
 ClinVar gnomAD v4
8g.60742942C>TCA371303264CHD7n.2023C>T
c.1510C>T (p.Gln504Ter)
c.154C>T
8g.60742943A>CCA371303266CHD7n.2024A>C
c.1511A>C (p.Gln504Pro)
c.155A>C
8g.60742943A>GCA371303271CHD7n.2024A>G
c.1511A>G (p.Gln504Arg)
c.155A>G
 gnomAD v4
8g.60742943A>TCA371303273CHD7n.2024A>T
c.1511A>T (p.Gln504Leu)
c.155A>T
8g.60742944A=CA1788085139CHD7n.2025A=
c.1512A= (p.Gln504=)
c.156A=
8g.60742944A>CCA371303275CHD7n.2025A>C
c.1512A>C (p.Gln504His)
c.156A>C
8g.60742944A>GCA271283CHD7n.2025A>G
c.1512A>G (p.Gln504=)
c.156A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60742944A>TCA371303278CHD7n.2025A>T
c.1512A>T (p.Gln504His)
c.156A>T
8g.60742945C>ACA371303281CHD7n.2026C>A
c.1513C>A (p.Gln505Lys)
c.157C>A
8g.60742945C=CA1788085147CHD7n.2026C=
c.1513C= (p.Gln505=)
c.157C=
8g.60742945C>GCA371303283CHD7n.2026C>G
c.1513C>G (p.Gln505Glu)
c.157C>G
 gnomAD v4
8g.60742945C>TCA371303285CHD7n.2026C>T
c.1513C>T (p.Gln505Ter)
c.157C>T
 ClinVar dbSNP
8g.60742946A=CA1788085158CHD7n.2027A=
c.1514A= (p.Gln505=)
c.158A=
8g.60742946A>CCA371303288CHD7n.2027A>C
c.1514A>C (p.Gln505Pro)
c.158A>C
8g.60742946A>GCA371303287CHD7n.2027A>G
c.1514A>G (p.Gln505Arg)
c.158A>G
 ClinVar dbSNP gnomAD v4
8g.60742946A>TCA177313575CHD7n.2027A>T
c.1514A>T (p.Gln505Leu)
c.158A>T
 dbSNP gnomAD v4
8g.60742947G>ACA461103937CHD7n.2028G>A
c.1515G>A (p.Gln505=)
c.159G>A
 COSMIC
8g.60742947G>CCA371303289CHD7n.2028G>C
c.1515G>C (p.Gln505His)
c.159G>C
8g.60742947G>TCA371303290CHD7n.2028G>T
c.1515G>T (p.Gln505His)
c.159G>T
8g.60742948C>ACA371303291CHD7n.2029C>A
c.1516C>A (p.Pro506Thr)
c.160C>A
8g.60742948C=CA1788085174CHD7n.2029C=
c.1516C= (p.Pro506=)
c.160C=
8g.60742948C>GCA177313578CHD7n.2029C>G
c.1516C>G (p.Pro506Ala)
c.160C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60742948C>TCA371303292CHD7n.2029C>T
c.1516C>T (p.Pro506Ser)
c.160C>T
 dbSNP
8g.60742949C>ACA371303295CHD7n.2030C>A
c.1517C>A (p.Pro506Gln)
c.161C>A
8g.60742949C>GCA371303294CHD7n.2030C>G
c.1517C>G (p.Pro506Arg)
c.161C>G
8g.60742949C>TCA371303293CHD7n.2030C>T
c.1517C>T (p.Pro506Leu)
c.161C>T
8g.60742950A=CA1788085184CHD7n.2031A=
c.1518A= (p.Pro506=)
c.162A=
8g.60742950A>CCA461103939CHD7n.2031A>C
c.1518A>C (p.Pro506=)
c.162A>C
8g.60742950A>GCA461103941CHD7n.2031A>G
c.1518A>G (p.Pro506=)
c.162A>G
 dbSNP gnomAD v3 gnomAD v4
8g.60742950A>TCA461103942CHD7n.2031A>T
c.1518A>T (p.Pro506=)
c.162A>T
 gnomAD v4
8g.60742951T>ACA371303296CHD7n.2032T>A
c.1519T>A (p.Ser507Thr)
c.163T>A
8g.60742951T>CCA371303297CHD7n.2032T>C
c.1519T>C (p.Ser507Pro)
c.163T>C
8g.60742951T>GCA371303298CHD7n.2032T>G
c.1519T>G (p.Ser507Ala)
c.163T>G
8g.60742952C>ACA371303299CHD7n.2033C>A
c.1520C>A (p.Ser507Tyr)
c.164C>A
8g.60742952C=CA1788085189CHD7n.2033C=
c.1520C= (p.Ser507=)
c.164C=
8g.60742952C>GCA371303300CHD7n.2033C>G
c.1520C>G (p.Ser507Cys)
c.164C>G
 dbSNP gnomAD v2 gnomAD v4
8g.60742952C>TCA371303301CHD7n.2033C>T
c.1520C>T (p.Ser507Phe)
c.164C>T
8g.60742953T>ACA461103943CHD7n.2034T>A
c.1521T>A (p.Ser507=)
c.165T>A
8g.60742953T>CCA461103944CHD7n.2034T>C
c.1521T>C (p.Ser507=)
c.165T>C
8g.60742953T>GCA461103945CHD7n.2034T>G
c.1521T>G (p.Ser507=)
c.165T>G
8g.60742954T>ACA371303302CHD7n.2035T>A
c.1522T>A (p.Phe508Ile)
c.166T>A
8g.60742954T>CCA371303304CHD7n.2035T>C
c.1522T>C (p.Phe508Leu)
c.166T>C
8g.60742954T>GCA371303303CHD7n.2035T>G
c.1522T>G (p.Phe508Val)
c.166T>G
8g.60742955T>ACA371303305CHD7n.2036T>A
c.1523T>A (p.Phe508Tyr)
c.167T>A
8g.60742955T>CCA371303306CHD7n.2036T>C
c.1523T>C (p.Phe508Ser)
c.167T>C
8g.60742955T>GCA371303307CHD7n.2036T>G
c.1523T>G (p.Phe508Cys)
c.167T>G
8g.60742956T>ACA371303308CHD7n.2037T>A
c.1524T>A (p.Phe508Leu)
c.168T>A
8g.60742956T>CCA461103949CHD7n.2037T>C
c.1524T>C (p.Phe508=)
c.168T>C
 COSMIC
8g.60742956T>GCA371303309CHD7n.2037T>G
c.1524T>G (p.Phe508Leu)
c.168T>G
8g.60742957C>ACA371303310CHD7n.2038C>A
c.1525C>A (p.Gln509Lys)
c.169C>A
8g.60742957C>GCA371303311CHD7n.2038C>G
c.1525C>G (p.Gln509Glu)
c.169C>G
8g.60742957C>TCA371303312CHD7n.2038C>T
c.1525C>T (p.Gln509Ter)
c.169C>T
 ClinVar
8g.60742958A>CCA371303313CHD7n.2039A>C
c.1526A>C (p.Gln509Pro)
c.170A>C
8g.60742958A>GCA371303314CHD7n.2039A>G
c.1526A>G (p.Gln509Arg)
c.170A>G
8g.60742958A>TCA371303315CHD7n.2039A>T
c.1526A>T (p.Gln509Leu)
c.170A>T
8g.60742959G>ACA461103950CHD7n.2040G>A
c.1527G>A (p.Gln509=)
c.171G>A
 gnomAD v4
8g.60742959G>CCA371303316CHD7n.2040G>C
c.1527G>C (p.Gln509His)
c.171G>C
8g.60742959G>TCA371303317CHD7n.2040G>T
c.1527G>T (p.Gln509His)
c.171G>T
8g.60742960delCA2695209576CHD7n.2041del
c.1528del (p.Gln510SerfsTer?)
c.172del
8g.60742960C>ACA371303318CHD7n.2041C>A
c.1528C>A (p.Gln510Lys)
c.172C>A
8g.60742960C>GCA371303321CHD7n.2041C>G
c.1528C>G (p.Gln510Glu)
c.172C>G
8g.60742960C>TCA371303319CHD7n.2041C>T
c.1528C>T (p.Gln510Ter)
c.172C>T
8g.60742961A>CCA371303322CHD7n.2042A>C
c.1529A>C (p.Gln510Pro)
c.173A>C
8g.60742961A>GCA371303323CHD7n.2042A>G
c.1529A>G (p.Gln510Arg)
c.173A>G
8g.60742961A>TCA371303324CHD7n.2042A>T
c.1529A>T (p.Gln510Leu)
c.173A>T
8g.60742962G>ACA461103952CHD7n.2043G>A
c.1530G>A (p.Gln510=)
c.174G>A
8g.60742962G>CCA371303325CHD7n.2043G>C
c.1530G>C (p.Gln510His)
c.174G>C
8g.60742962G>TCA371303326CHD7n.2043G>T
c.1530G>T (p.Gln510His)
c.174G>T
 gnomAD v4
8g.60742963T>ACA371303327CHD7n.2044T>A
c.1531T>A (p.Leu511Met)
c.175T>A
8g.60742963T>CCA461103954CHD7n.2044T>C
c.1531T>C (p.Leu511=)
c.175T>C
8g.60742963T>GCA371303328CHD7n.2044T>G
c.1531T>G (p.Leu511Val)
c.175T>G
8g.60742964T>ACA371303332CHD7n.2045T>A
c.1532T>A (p.Leu511Ter)
c.176T>A
8g.60742964T>CCA371303330CHD7n.2045T>C
c.1532T>C (p.Leu511Ser)
c.176T>C
 dbSNP gnomAD v2 gnomAD v4
8g.60742964T>GCA371303331CHD7n.2045T>G
c.1532T>G (p.Leu511Trp)
c.176T>G
8g.60742964T=CA1788085194CHD7n.2045T=
c.1532T= (p.Leu511=)
c.176T=
8g.60742965G>ACA461103956CHD7n.2046G>A
c.1533G>A (p.Leu511=)
c.177G>A
 gnomAD v4
8g.60742965G>CCA371303334CHD7n.2046G>C
c.1533G>C (p.Leu511Phe)
c.177G>C
8g.60742965G>TCA371303335CHD7n.2046G>T
c.1533G>T (p.Leu511Phe)
c.177G>T
8g.60742966C>ACA371303336CHD7n.2047C>A
c.1534C>A (p.Pro512Thr)
c.178C>A
8g.60742966C=CA1788085208CHD7n.2047C=
c.1534C= (p.Pro512=)
c.178C=
8g.60742966C>GCA4759505CHD7n.2047C>G
c.1534C>G (p.Pro512Ala)
c.178C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60742966C>TCA371303339CHD7n.2047C>T
c.1534C>T (p.Pro512Ser)
c.178C>T
8g.60742967C>ACA371303342CHD7n.2048C>A
c.1535C>A (p.Pro512Gln)
c.179C>A
8g.60742967C>GCA371303345CHD7n.2048C>G
c.1535C>G (p.Pro512Arg)
c.179C>G
8g.60742967C>TCA371303343CHD7n.2048C>T
c.1535C>T (p.Pro512Leu)
c.179C>T
 ClinVar dbSNP
8g.60742968A=CA1788085217CHD7n.2049A=
c.1536A= (p.Pro512=)
c.180A=
8g.60742968A>CCA461103958CHD7n.2049A>C
c.1536A>C (p.Pro512=)
c.180A>C
8g.60742968A>GCA201669CHD7n.2049A>G
c.1536A>G (p.Pro512=)
c.180A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60742968A>TCA461103960CHD7n.2049A>T
c.1536A>T (p.Pro512=)
c.180A>T
8g.60742969A=CA1788085230CHD7n.2050A=
c.1537A= (p.Thr513=)
c.181A=
8g.60742969A>CCA371303347CHD7n.2050A>C
c.1537A>C (p.Thr513Pro)
c.181A>C
 dbSNP
8g.60742969A>GCA177313604CHD7n.2050A>G
c.1537A>G (p.Thr513Ala)
c.181A>G
 ClinVar dbSNP gnomAD v4 COSMIC
8g.60742969A>TCA371303352CHD7n.2050A>T
c.1537A>T (p.Thr513Ser)
c.181A>T
 COSMIC
8g.60742970C>ACA371303354CHD7n.2051C>A
c.1538C>A (p.Thr513Asn)
c.182C>A
8g.60742970C=CA1788085234CHD7n.2051C=
c.1538C= (p.Thr513=)
c.182C=
8g.60742970C>GCA371303356CHD7n.2051C>G
c.1538C>G (p.Thr513Ser)
c.182C>G
 dbSNP gnomAD v2
8g.60742970C>TCA371303358CHD7n.2051C>T
c.1538C>T (p.Thr513Ile)
c.182C>T
8g.60742971C>ACA461103963CHD7n.2052C>A
c.1539C>A (p.Thr513=)
c.183C>A
8g.60742971C=CA1788085240CHD7n.2052C=
c.1539C= (p.Thr513=)
c.183C=
8g.60742971C>GCA461103965CHD7n.2052C>G
c.1539C>G (p.Thr513=)
c.183C>G
8g.60742971C>TCA4759506CHD7n.2052C>T
c.1539C>T (p.Thr513=)
c.183C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60742972T>ACA371303362CHD7n.2053T>A
c.1540T>A (p.Cys514Ser)
c.184T>A
8g.60742972T>CCA371303364CHD7n.2053T>C
c.1540T>C (p.Cys514Arg)
c.184T>C
 gnomAD v4
8g.60742972T>GCA371303366CHD7n.2053T>G
c.1540T>G (p.Cys514Gly)
c.184T>G
 gnomAD v4
8g.60742973G>ACA371303369CHD7n.2054G>A
c.1541G>A (p.Cys514Tyr)
c.185G>A
8g.60742973G>CCA4759508CHD7n.2054G>C
c.1541G>C (p.Cys514Ser)
c.185G>C
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.60742973G=CA1788085248CHD7n.2054G=
c.1541G= (p.Cys514=)
c.185G=
8g.60742973G>TCA371303371CHD7n.2054G>T
c.1541G>T (p.Cys514Phe)
c.185G>T
8g.60742973_60742976delinsGTCCCA1788085245CHD7n.2054_2057delinsGTCC
c.1541_1544delinsGTCC (p.Cys514=)
c.185_188delinsGTCC
8g.60742974T>ACA371303375CHD7n.2055T>A
c.1542T>A (p.Cys514Ter)
c.186T>A
8g.60742974T>CCA461103968CHD7n.2055T>C
c.1542T>C (p.Cys514=)
c.186T>C
8g.60742974T>GCA371303377CHD7n.2055T>G
c.1542T>G (p.Cys514Trp)
c.186T>G
8g.60742977_60742979delCA4759507CHD7n.2058_2060del
c.1545_1547del (p.Pro516del)
c.189_191del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60742975C>ACA371303382CHD7n.2056C>A
c.1543C>A (p.Pro515Thr)
c.187C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60742975C=CA1788085267CHD7n.2056C=
c.1543C= (p.Pro515=)
c.187C=
8g.60742975C>GCA371303385CHD7n.2056C>G
c.1543C>G (p.Pro515Ala)
c.187C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60742975C>TCA371303387CHD7n.2056C>T
c.1543C>T (p.Pro515Ser)
c.187C>T
 ClinVar dbSNP COSMIC
8g.60742976delCA2695209578CHD7n.2057del
c.1544del (p.Pro515LeufsTer?)
c.188del
8g.60742976C>ACA371303389CHD7n.2057C>A
c.1544C>A (p.Pro515His)
c.188C>A
8g.60742976C=CA1788085275CHD7n.2057C=
c.1544C= (p.Pro515=)
c.188C=
8g.60742976C>GCA371303391CHD7n.2057C>G
c.1544C>G (p.Pro515Arg)
c.188C>G
8g.60742976C>TCA371303393CHD7n.2057C>T
c.1544C>T (p.Pro515Leu)
c.188C>T
 dbSNP gnomAD v4 COSMIC
8g.60742977T>ACA461103971CHD7n.2058T>A
c.1545T>A (p.Pro515=)
c.189T>A
8g.60742977T>CCA461103970CHD7n.2058T>C
c.1545T>C (p.Pro515=)
c.189T>C
 gnomAD v4
8g.60742977T>GCA461103969CHD7n.2058T>G
c.1545T>G (p.Pro515=)
c.189T>G
 dbSNP
8g.60742977T=CA1788085277CHD7n.2058T=
c.1545T= (p.Pro515=)
c.189T=
8g.60742978C>ACA371303395CHD7n.2059C>A
c.1546C>A (p.Pro516Thr)
c.190C>A
8g.60742978C>GCA371303397CHD7n.2059C>G
c.1546C>G (p.Pro516Ala)
c.190C>G
 gnomAD v4
8g.60742978C>TCA371303399CHD7n.2059C>T
c.1546C>T (p.Pro516Ser)
c.190C>T
 ClinVar
8g.60742979C>ACA371303406CHD7n.2060C>A
c.1547C>A (p.Pro516Gln)
c.191C>A
8g.60742979C>GCA371303401CHD7n.2060C>G
c.1547C>G (p.Pro516Arg)
c.191C>G
8g.60742979C>TCA371303403CHD7n.2060C>T
c.1547C>T (p.Pro516Leu)
c.191C>T
8g.60742981_60742985delCA2739268798CHD7n.2062_2066del
c.1549_1553del (p.Leu517AlafsTer?)
c.193_197del
 ClinVar
8g.60742980A=CA1788085284CHD7n.2061A=
c.1548A= (p.Pro516=)
c.192A=
8g.60742980A>CCA461103972CHD7n.2061A>C
c.1548A>C (p.Pro516=)
c.192A>C
 gnomAD v4
8g.60742980A>GCA4759509CHD7n.2061A>G
c.1548A>G (p.Pro516=)
c.192A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60742980A>TCA461103973CHD7n.2061A>T
c.1548A>T (p.Pro516=)
c.192A>T
 gnomAD v4
8g.60742981C>ACA371303409CHD7n.2062C>A
c.1549C>A (p.Leu517Met)
c.193C>A
8g.60742981C>GCA371303411CHD7n.2062C>G
c.1549C>G (p.Leu517Val)
c.193C>G
8g.60742981C>TCA461103974CHD7n.2062C>T
c.1549C>T (p.Leu517=)
c.193C>T
8g.60742982T>ACA371303413CHD7n.2063T>A
c.1550T>A (p.Leu517Gln)
c.194T>A
8g.60742982T>CCA371303415CHD7n.2063T>C
c.1550T>C (p.Leu517Pro)
c.194T>C
8g.60742982T>GCA371303417CHD7n.2063T>G
c.1550T>G (p.Leu517Arg)
c.194T>G
8g.60742983G>ACA461103975CHD7n.2064G>A
c.1551G>A (p.Leu517=)
c.195G>A
 dbSNP gnomAD v2 gnomAD v4
8g.60742983G>CCA461103977CHD7n.2064G>C
c.1551G>C (p.Leu517=)
c.195G>C
8g.60742983G=CA1788085300CHD7n.2064G=
c.1551G= (p.Leu517=)
c.195G=
8g.60742983G>TCA461103976CHD7n.2064G>T
c.1551G>T (p.Leu517=)
c.195G>T
8g.60742984C>ACA371303419CHD7n.2065C>A
c.1552C>A (p.Gln518Lys)
c.196C>A
8g.60742984C=CA1788085316CHD7n.2065C=
c.1552C= (p.Gln518=)
c.196C=
8g.60742984C>GCA371303421CHD7n.2065C>G
c.1552C>G (p.Gln518Glu)
c.196C>G
8g.60742984C>TCA16044358CHD7n.2065C>T
c.1552C>T (p.Gln518Ter)
c.196C>T
 ClinVar dbSNP
8g.60742985A=CA1788085329CHD7n.2066A=
c.1553A= (p.Gln518=)
c.197A=
8g.60742985A>CCA371303425CHD7n.2066A>C
c.1553A>C (p.Gln518Pro)
c.197A>C
8g.60742985A>GCA4759510CHD7n.2066A>G
c.1553A>G (p.Gln518Arg)
c.197A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60742985A>TCA371303427CHD7n.2066A>T
c.1553A>T (p.Gln518Leu)
c.197A>T
 dbSNP
8g.60742986G>ACA461103979CHD7n.2067G>A
c.1554G>A (p.Gln518=)
c.198G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60742986G>CCA4759512CHD7n.2067G>C
c.1554G>C (p.Gln518His)
c.198G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60742986G=CA1788085343CHD7n.2067G=
c.1554G= (p.Gln518=)
c.198G=
8g.60742986G>TCA4759511CHD7n.2067G>T
c.1554G>T (p.Gln518His)
c.198G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60742987C>ACA371303430CHD7n.2068C>A
c.1555C>A (p.Pro519Thr)
c.199C>A
8g.60742987C=CA1788085353CHD7n.2068C=
c.1555C= (p.Pro519=)
c.199C=
8g.60742987C>GCA371303432CHD7n.2068C>G
c.1555C>G (p.Pro519Ala)
c.199C>G
8g.60742987C>TCA4759513CHD7n.2068C>T
c.1555C>T (p.Pro519Ser)
c.199C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60742988C>ACA371303435CHD7n.2069C>A
c.1556C>A (p.Pro519His)
c.200C>A
 dbSNP
8g.60742988C=CA1788085358CHD7n.2069C=
c.1556C= (p.Pro519=)
c.200C=
8g.60742988C>GCA371303437CHD7n.2069C>G
c.1556C>G (p.Pro519Arg)
c.200C>G
8g.60742988C>TCA371303439CHD7n.2069C>T
c.1556C>T (p.Pro519Leu)
c.200C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60742989T>ACA461103982CHD7n.2070T>A
c.1557T>A (p.Pro519=)
c.201T>A
8g.60742989T>CCA461103981CHD7n.2070T>C
c.1557T>C (p.Pro519=)
c.201T>C
 gnomAD v4
8g.60742989T>GCA461103980CHD7n.2070T>G
c.1557T>G (p.Pro519=)
c.201T>G
8g.60742990C>ACA371303445CHD7n.2071C>A
c.1558C>A (p.His520Asn)
c.202C>A
8g.60742990C=CA1788085373CHD7n.2071C=
c.1558C= (p.His520=)
c.202C=
8g.60742990C>GCA371303441CHD7n.2071C>G
c.1558C>G (p.His520Asp)
c.202C>G
 gnomAD v4
8g.60742990C>TCA371303443CHD7n.2071C>T
c.1558C>T (p.His520Tyr)
c.202C>T
 dbSNP gnomAD v2 gnomAD v4
8g.60742991A>CCA371303448CHD7n.2072A>C
c.1559A>C (p.His520Pro)
c.203A>C
8g.60742991A>GCA371303449CHD7n.2072A>G
c.1559A>G (p.His520Arg)
c.203A>G
8g.60742991A>TCA371303451CHD7n.2072A>T
c.1559A>T (p.His520Leu)
c.203A>T
8g.60742992C>ACA371303453CHD7n.2073C>A
c.1560C>A (p.His520Gln)
c.204C>A
8g.60742992C=CA1788085383CHD7n.2073C=
c.1560C= (p.His520=)
c.204C=
8g.60742992C>GCA371303455CHD7n.2073C>G
c.1560C>G (p.His520Gln)
c.204C>G
 dbSNP gnomAD v2 gnomAD v4
8g.60742992C>TCA461103986CHD7n.2073C>T
c.1560C>T (p.His520=)
c.204C>T
 dbSNP gnomAD v2 gnomAD v4
8g.60742993C>ACA371303461CHD7n.2074C>A
c.1561C>A (p.Pro521Thr)
c.205C>A
8g.60742993C>GCA371303458CHD7n.2074C>G
c.1561C>G (p.Pro521Ala)
c.205C>G
 ClinVar gnomAD v4
8g.60742993C>TCA371303460CHD7n.2074C>T
c.1561C>T (p.Pro521Ser)
c.205C>T
8g.60742994C>ACA371303465CHD7n.2075C>A
c.1562C>A (p.Pro521Gln)
c.206C>A
 gnomAD v4
8g.60742994C=CA1788085408CHD7n.2075C=
c.1562C= (p.Pro521=)
c.206C=
8g.60742994C>GCA371303466CHD7n.2075C>G
c.1562C>G (p.Pro521Arg)
c.206C>G
8g.60742994C>TCA4759514CHD7n.2075C>T
c.1562C>T (p.Pro521Leu)
c.206C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60742995G>ACA4759515CHD7n.2076G>A
c.1563G>A (p.Pro521=)
c.207G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60742995G>CCA461103990CHD7n.2076G>C
c.1563G>C (p.Pro521=)
c.207G>C
8g.60742995G=CA1788085417CHD7n.2076G=
c.1563G= (p.Pro521=)
c.207G=
8g.60742995G>TCA461103991CHD7n.2076G>T
c.1563G>T (p.Pro521=)
c.207G>T
8g.60742996G>ACA371303470CHD7n.2077G>A
c.1564G>A (p.Gly522Ser)
c.208G>A
8g.60742996G>CCA371303472CHD7n.2077G>C
c.1564G>C (p.Gly522Arg)
c.208G>C
8g.60742996G>TCA371303473CHD7n.2077G>T
c.1564G>T (p.Gly522Cys)
c.208G>T
8g.60742997G>ACA371303476CHD7n.2078G>A
c.1565G>A (p.Gly522Asp)
c.209G>A
 gnomAD v4
8g.60742997G>CCA371303477CHD7n.2078G>C
c.1565G>C (p.Gly522Ala)
c.209G>C
8g.60742997G=CA1788085429CHD7n.2078G=
c.1565G= (p.Gly522=)
c.209G=
8g.60742997G>TCA4759516CHD7n.2078G>T
c.1565G>T (p.Gly522Val)
c.209G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60742998C>ACA461103992CHD7n.2079C>A
c.1566C>A (p.Gly522=)
c.210C>A
8g.60742998C=CA1788085445CHD7n.2079C=
c.1566C= (p.Gly522=)
c.210C=
8g.60742998C>GCA461103993CHD7n.2079C>G
c.1566C>G (p.Gly522=)
c.210C>G
8g.60742998C>TCA10625680CHD7n.2079C>T
c.1566C>T (p.Gly522=)
c.210C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60742999T>ACA371303481CHD7n.2080T>A
c.1567T>A (p.Leu523Met)
c.211T>A
8g.60742999T>CCA461103995CHD7n.2080T>C
c.1567T>C (p.Leu523=)
c.211T>C
8g.60742999T>GCA371303484CHD7n.2080T>G
c.1567T>G (p.Leu523Val)
c.211T>G
8g.60743000T>ACA371303490CHD7n.2081T>A
c.1568T>A (p.Leu523Ter)
c.212T>A
8g.60743000T>CCA371303486CHD7n.2081T>C
c.1568T>C (p.Leu523Ser)
c.212T>C
8g.60743000T>GCA371303489CHD7n.2081T>G
c.1568T>G (p.Leu523Trp)
c.212T>G
8g.60743001G>ACA461103996CHD7n.2082G>A
c.1569G>A (p.Leu523=)
c.213G>A
8g.60743001G>CCA371303492CHD7n.2082G>C
c.1569G>C (p.Leu523Phe)
c.213G>C
8g.60743001G>TCA371303494CHD7n.2082G>T
c.1569G>T (p.Leu523Phe)
c.213G>T
8g.60743002C>ACA371303496CHD7n.2083C>A
c.1570C>A (p.His524Asn)
c.214C>A
8g.60743002C=CA1788085463CHD7n.2083C=
c.1570C= (p.His524=)
c.214C=
8g.60743002C>GCA371303498CHD7n.2083C>G
c.1570C>G (p.His524Asp)
c.214C>G
8g.60743002C>TCA4759517CHD7n.2083C>T
c.1570C>T (p.His524Tyr)
c.214C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60743003A=CA1788085468CHD7n.2084A=
c.1571A= (p.His524=)
c.215A=
8g.60743003A>CCA177313647CHD7n.2084A>C
c.1571A>C (p.His524Pro)
c.215A>C
 dbSNP
8g.60743003A>GCA371303501CHD7n.2084A>G
c.1571A>G (p.His524Arg)
c.215A>G
 gnomAD v4
8g.60743003A>TCA371303503CHD7n.2084A>T
c.1571A>T (p.His524Leu)
c.215A>T
8g.60743004C>ACA371303505CHD7n.2085C>A
c.1572C>A (p.His524Gln)
c.216C>A
8g.60743004C>GCA371303507CHD7n.2085C>G
c.1572C>G (p.His524Gln)
c.216C>G
8g.60743004C>TCA461103997CHD7n.2085C>T
c.1572C>T (p.His524=)
c.216C>T
 dbSNP gnomAD v4
8g.60743005C>ACA371303510CHD7n.2086C>A
c.1573C>A (p.His525Asn)
c.217C>A
8g.60743005C>GCA371303511CHD7n.2086C>G
c.1573C>G (p.His525Asp)
c.217C>G
8g.60743005C>TCA371303513CHD7n.2086C>T
c.1573C>T (p.His525Tyr)
c.217C>T
 gnomAD v4
8g.60743006A>CCA371303519CHD7n.2087A>C
c.1574A>C (p.His525Pro)
c.218A>C
 gnomAD v4
8g.60743006A>GCA371303517CHD7n.2087A>G
c.1574A>G (p.His525Arg)
c.218A>G
 COSMIC
8g.60743006A>TCA371303515CHD7n.2087A>T
c.1574A>T (p.His525Leu)
c.218A>T
8g.60743007C>ACA371303521CHD7n.2088C>A
c.1575C>A (p.His525Gln)
c.219C>A
 COSMIC
8g.60743007C>GCA371303523CHD7n.2088C>G
c.1575C>G (p.His525Gln)
c.219C>G
8g.60743007C>TCA461103998CHD7n.2088C>T
c.1575C>T (p.His525=)
c.219C>T
 gnomAD v4
8g.60743008C>ACA371303525CHD7n.2089C>A
c.1576C>A (p.Gln526Lys)
c.220C>A
8g.60743008C>GCA371303527CHD7n.2089C>G
c.1576C>G (p.Gln526Glu)
c.220C>G
8g.60743008C>TCA371303529CHD7n.2089C>T
c.1576C>T (p.Gln526Ter)
c.220C>T
8g.60743009A>CCA371303531CHD7n.2090A>C
c.1577A>C (p.Gln526Pro)
c.221A>C
8g.60743009A>GCA371303532CHD7n.2090A>G
c.1577A>G (p.Gln526Arg)
c.221A>G
 ClinVar dbSNP
8g.60743009A>TCA371303535CHD7n.2090A>T
c.1577A>T (p.Gln526Leu)
c.221A>T
8g.60743010G>ACA461103999CHD7n.2091G>A
c.1578G>A (p.Gln526=)
c.222G>A
 gnomAD v4
8g.60743010G>CCA371303538CHD7n.2091G>C
c.1578G>C (p.Gln526His)
c.222G>C
8g.60743010G>TCA371303540CHD7n.2091G>T
c.1578G>T (p.Gln526His)
c.222G>T
8g.60743011T>ACA371303543CHD7n.2092T>A
c.1579T>A (p.Ser527Thr)
c.223T>A
8g.60743011T>CCA371303545CHD7n.2092T>C
c.1579T>C (p.Ser527Pro)
c.223T>C
8g.60743011T>GCA371303546CHD7n.2092T>G
c.1579T>G (p.Ser527Ala)
c.223T>G
8g.60743012C>ACA371303551CHD7n.2093C>A
c.1580C>A (p.Ser527Tyr)
c.224C>A
8g.60743012C>GCA371303552CHD7n.2093C>G
c.1580C>G (p.Ser527Cys)
c.224C>G
 dbSNP gnomAD v3 gnomAD v4
8g.60743012C>TCA371303549CHD7n.2093C>T
c.1580C>T (p.Ser527Phe)
c.224C>T
8g.60743012_60743013insAACA2554436287CHD7n.2093_2094insAA
c.1580_1581insAA (p.Ser528IlefsTer?)
c.224_225insAA
8g.60743013T>ACA461104000CHD7n.2094T>A
c.1581T>A (p.Ser527=)
c.225T>A
8g.60743013T>CCA461104002CHD7n.2094T>C
c.1581T>C (p.Ser527=)
c.225T>C
 ClinVar dbSNP gnomAD v4
8g.60743013T>GCA461104001CHD7n.2094T>G
c.1581T>G (p.Ser527=)
c.225T>G
 gnomAD v3 gnomAD v4
8g.60743013T=CA1788085474CHD7n.2094T=
c.1581T= (p.Ser527=)
c.225T=
8g.60743014T>ACA371303555CHD7n.2095T>A
c.1582T>A (p.Ser528Thr)
c.226T>A
8g.60743014T>CCA371303557CHD7n.2095T>C
c.1582T>C (p.Ser528Pro)
c.226T>C
8g.60743014T>GCA371303556CHD7n.2095T>G
c.1582T>G (p.Ser528Ala)
c.226T>G
8g.60743015C>ACA371303559CHD7n.2096C>A
c.1583C>A (p.Ser528Ter)
c.227C>A
8g.60743015C>GCA371303563CHD7n.2096C>G
c.1583C>G (p.Ser528Ter)
c.227C>G
8g.60743015C>TCA371303561CHD7n.2096C>T
c.1583C>T (p.Ser528Leu)
c.227C>T
 dbSNP
8g.60743015_60743016insCCTTGGTGCCA2535058325CHD7n.2096_2097insCCTTGGTGC
c.1583_1584insCCTTGGTGC (p.Ser528_Pro529insLeuGlyAla)
c.227_228insCCTTGGTGC
8g.60743016A>CCA461104005CHD7n.2097A>C
c.1584A>C (p.Ser528=)
c.228A>C
 gnomAD v4
8g.60743016A>GCA461104006CHD7n.2097A>G
c.1584A>G (p.Ser528=)
c.228A>G
 gnomAD v4
8g.60743016A>TCA461104007CHD7n.2097A>T
c.1584A>T (p.Ser528=)
c.228A>T
8g.60743017C>ACA371303565CHD7n.2098C>A
c.1585C>A (p.Pro529Thr)
c.229C>A
8g.60743017C=CA1788085478CHD7n.2098C=
c.1585C= (p.Pro529=)
c.229C=
8g.60743017C>GCA371303567CHD7n.2098C>G
c.1585C>G (p.Pro529Ala)
c.229C>G
8g.60743017C>TCA371303569CHD7n.2098C>T
c.1585C>T (p.Pro529Ser)
c.229C>T
 dbSNP gnomAD v2 gnomAD v4
8g.60743021_60743029delCA2580078443CHD7n.2102_2110del
c.1589_1597del (p.Pro530_Pro532del)
c.233_241del
 ClinVar
8g.60743018C>ACA371303571CHD7n.2099C>A
c.1586C>A (p.Pro529His)
c.230C>A
8g.60743018C>GCA371303573CHD7n.2099C>G
c.1586C>G (p.Pro529Arg)
c.230C>G
8g.60743018C>TCA371303575CHD7n.2099C>T
c.1586C>T (p.Pro529Leu)
c.230C>T
8g.60743019T>ACA461104008CHD7n.2100T>A
c.1587T>A (p.Pro529=)
c.231T>A
8g.60743019T>CCA461104009CHD7n.2100T>C
c.1587T>C (p.Pro529=)
c.231T>C
8g.60743019T>GCA461104010CHD7n.2100T>G
c.1587T>G (p.Pro529=)
c.231T>G
8g.60743020C>ACA371303577CHD7n.2101C>A
c.1588C>A (p.Pro530Thr)
c.232C>A
8g.60743020C>GCA371303578CHD7n.2101C>G
c.1588C>G (p.Pro530Ala)
c.232C>G
8g.60743020C>TCA371303580CHD7n.2101C>T
c.1588C>T (p.Pro530Ser)
c.232C>T
8g.60743021C>ACA371303586CHD7n.2102C>A
c.1589C>A (p.Pro530Gln)
c.233C>A
8g.60743021C>GCA371303584CHD7n.2102C>G
c.1589C>G (p.Pro530Arg)
c.233C>G
8g.60743021C>TCA371303582CHD7n.2102C>T
c.1589C>T (p.Pro530Leu)
c.233C>T
 COSMIC
8g.60743022A>CCA461104014CHD7n.2103A>C
c.1590A>C (p.Pro530=)
c.234A>C
8g.60743022A>GCA461104012CHD7n.2103A>G
c.1590A>G (p.Pro530=)
c.234A>G
 gnomAD v4
8g.60743022A>TCA461104013CHD7n.2103A>T
c.1590A>T (p.Pro530=)
c.234A>T
8g.60743023C>ACA371303588CHD7n.2104C>A
c.1591C>A (p.His531Asn)
c.235C>A
 COSMIC
8g.60743023C>GCA371303590CHD7n.2104C>G
c.1591C>G (p.His531Asp)
c.235C>G
8g.60743023C>TCA371303591CHD7n.2104C>T
c.1591C>T (p.His531Tyr)
c.235C>T
 gnomAD v4
8g.60743024A>CCA371303593CHD7n.2105A>C
c.1592A>C (p.His531Pro)
c.236A>C
8g.60743024A>GCA371303595CHD7n.2105A>G
c.1592A>G (p.His531Arg)
c.236A>G
 gnomAD v4
8g.60743024A>TCA371303596CHD7n.2105A>T
c.1592A>T (p.His531Leu)
c.236A>T
8g.60743025C>ACA371303598CHD7n.2106C>A
c.1593C>A (p.His531Gln)
c.237C>A
8g.60743025C=CA1788085484CHD7n.2106C=
c.1593C= (p.His531=)
c.237C=
8g.60743025C>GCA371303600CHD7n.2106C>G
c.1593C>G (p.His531Gln)
c.237C>G
8g.60743025C>TCA461104015CHD7n.2106C>T
c.1593C>T (p.His531=)
c.237C>T
 dbSNP gnomAD v2 gnomAD v4
8g.60743027delCA2580078446CHD7n.2108del
c.1595del (p.Pro532LeufsTer?)
c.239del
 ClinVar
8g.60743026C>ACA371303602CHD7n.2107C>A
c.1594C>A (p.Pro532Thr)
c.238C>A
8g.60743026C>GCA371303603CHD7n.2107C>G
c.1594C>G (p.Pro532Ala)
c.238C>G
8g.60743026C>TCA371303605CHD7n.2107C>T
c.1594C>T (p.Pro532Ser)
c.238C>T
8g.60743027C>ACA371303609CHD7n.2108C>A
c.1595C>A (p.Pro532His)
c.239C>A
8g.60743027C=CA1788085487CHD7n.2108C=
c.1595C= (p.Pro532=)
c.239C=
8g.60743027C>GCA371303610CHD7n.2108C>G
c.1595C>G (p.Pro532Arg)
c.239C>G
 dbSNP gnomAD v2 gnomAD v4
8g.60743027C>TCA371303607CHD7n.2108C>T
c.1595C>T (p.Pro532Leu)
c.239C>T
8g.60743028T>ACA461104017CHD7n.2109T>A
c.1596T>A (p.Pro532=)
c.240T>A
8g.60743028T>CCA461104016CHD7n.2109T>C
c.1596T>C (p.Pro532=)
c.240T>C
8g.60743028T>GCA461104018CHD7n.2109T>G
c.1596T>G (p.Pro532=)
c.240T>G
8g.60743029C>ACA371303612CHD7n.2110C>A
c.1597C>A (p.His533Asn)
c.241C>A
 gnomAD v4
8g.60743029C=CA1788085495CHD7n.2110C=
c.1597C= (p.His533=)
c.241C=
8g.60743029C>GCA371303613CHD7n.2110C>G
c.1597C>G (p.His533Asp)
c.241C>G
8g.60743029C>TCA4759518CHD7n.2110C>T
c.1597C>T (p.His533Tyr)
c.241C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60743029_60743030insTCA658821257CHD7n.2110_2111insT
c.1597_1598insT (p.His533LeufsTer?)
c.241_242insT
 ClinVar dbSNP
8g.60743030A>CCA371303616CHD7n.2111A>C
c.1598A>C (p.His533Pro)
c.242A>C
8g.60743030A>GCA371303618CHD7n.2111A>G
c.1598A>G (p.His533Arg)
c.242A>G
 ClinVar gnomAD v4
8g.60743030A>TCA371303620CHD7n.2111A>T
c.1598A>T (p.His533Leu)
c.242A>T
8g.60743031T>ACA371303622CHD7n.2112T>A
c.1599T>A (p.His533Gln)
c.243T>A
8g.60743031T>CCA461104019CHD7n.2112T>C
c.1599T>C (p.His533=)
c.243T>C
8g.60743031T>GCA371303624CHD7n.2112T>G
c.1599T>G (p.His533Gln)
c.243T>G
8g.60743032C>ACA371303626CHD7n.2113C>A
c.1600C>A (p.His534Asn)
c.244C>A
c.1C>A (p.His1Asn)
 dbSNP gnomAD v2 gnomAD v4
8g.60743032C=CA1788085512CHD7n.2113C=
c.1600C= (p.His534=)
c.244C=
c.1C= (p.His1=)
8g.60743032C>GCA371303628CHD7n.2113C>G
c.1600C>G (p.His534Asp)
c.244C>G
c.1C>G (p.His1Asp)
8g.60743032C>TCA371303630CHD7n.2113C>T
c.1600C>T (p.His534Tyr)
c.244C>T
c.1C>T (p.His1Tyr)
 gnomAD v4
8g.60743033A>CCA371303635CHD7n.2114A>C
c.1601A>C (p.His534Pro)
c.245A>C
c.2A>C (p.His1Pro)
8g.60743033A>GCA371303634CHD7n.2114A>G
c.1601A>G (p.His534Arg)
c.245A>G
c.2A>G (p.His1Arg)
 gnomAD v4
8g.60743033A>TCA371303632CHD7n.2114A>T
c.1601A>T (p.His534Leu)
c.245A>T
c.2A>T (p.His1Leu)

Number of alleles fetched