Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60742897C>ACA371303071CHD7n.1978C>A
c.1465C>A (p.Gln489Lys)
c.109C>A
8g.60742897C=CA1788098305CHD7n.1978C=
c.1465C= (p.Gln489=)
c.109C=
8g.60742897C>GCA371303073CHD7n.1978C>G
c.1465C>G (p.Gln489Glu)
c.109C>G
 dbSNP
8g.60742897C>TCA275085CHD7n.1978C>T
c.1465C>T (p.Gln489Ter)
c.109C>T
 ClinVar dbSNP
8g.60742898A=CA1788098336CHD7n.1979A=
c.1466A= (p.Gln489=)
c.110A=
8g.60742898A>CCA371303075CHD7n.1979A>C
c.1466A>C (p.Gln489Pro)
c.110A>C
 ClinVar dbSNP gnomAD v4
8g.60742898A>GCA371303077CHD7n.1979A>G
c.1466A>G (p.Gln489Arg)
c.110A>G
8g.60742898A>TCA371303079CHD7n.1979A>T
c.1466A>T (p.Gln489Leu)
c.110A>T
8g.60742899A=CA1788098338CHD7n.1980A=
c.1467A= (p.Gln489=)
c.111A=
8g.60742899A>CCA371303082CHD7n.1980A>C
c.1467A>C (p.Gln489His)
c.111A>C
8g.60742899A>GCA4759498CHD7n.1980A>G
c.1467A>G (p.Gln489=)
c.111A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60742899A>TCA371303084CHD7n.1980A>T
c.1467A>T (p.Gln489His)
c.111A>T
 gnomAD v4
8g.60742900G>ACA177313532CHD7n.1981G>A
c.1468G>A (p.Ala490Thr)
c.112G>A
 dbSNP
8g.60742900G>CCA371303085CHD7n.1981G>C
c.1468G>C (p.Ala490Pro)
c.112G>C
8g.60742900G=CA1788098341CHD7n.1981G=
c.1468G= (p.Ala490=)
c.112G=
8g.60742900G>TCA371303086CHD7n.1981G>T
c.1468G>T (p.Ala490Ser)
c.112G>T
8g.60742901C>ACA371303089CHD7n.1982C>A
c.1469C>A (p.Ala490Glu)
c.113C>A
8g.60742901C>GCA371303090CHD7n.1982C>G
c.1469C>G (p.Ala490Gly)
c.113C>G
8g.60742901C>TCA371303092CHD7n.1982C>T
c.1469C>T (p.Ala490Val)
c.113C>T
8g.60742902A>CCA461103882CHD7n.1983A>C
c.1470A>C (p.Ala490=)
c.114A>C
8g.60742902A>GCA461103883CHD7n.1983A>G
c.1470A>G (p.Ala490=)
c.114A>G
8g.60742902A>TCA461103884CHD7n.1983A>T
c.1470A>T (p.Ala490=)
c.114A>T
8g.60742903A>CCA371303094CHD7n.1984A>C
c.1471A>C (p.Ile491Leu)
c.115A>C
8g.60742903A>GCA371303096CHD7n.1984A>G
c.1471A>G (p.Ile491Val)
c.115A>G
 gnomAD v4
8g.60742903A>TCA371303097CHD7n.1984A>T
c.1471A>T (p.Ile491Phe)
c.115A>T
8g.60742904T>ACA371303100CHD7n.1985T>A
c.1472T>A (p.Ile491Asn)
c.116T>A
 ClinVar dbSNP gnomAD v4
8g.60742904T>CCA371303102CHD7n.1985T>C
c.1472T>C (p.Ile491Thr)
c.116T>C
8g.60742904T>GCA371303103CHD7n.1985T>G
c.1472T>G (p.Ile491Ser)
c.116T>G
8g.60742904T=CA1788098343CHD7n.1985T=
c.1472T= (p.Ile491=)
c.116T=
8g.60742905C>ACA461103888CHD7n.1986C>A
c.1473C>A (p.Ile491=)
c.117C>A
8g.60742905C=CA1788098346CHD7n.1986C=
c.1473C= (p.Ile491=)
c.117C=
8g.60742905C>GCA371303106CHD7n.1986C>G
c.1473C>G (p.Ile491Met)
c.117C>G
8g.60742905C>TCA4759499CHD7n.1986C>T
c.1473C>T (p.Ile491=)
c.117C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60742906C>ACA371303113CHD7n.1987C>A
c.1474C>A (p.Gln492Lys)
c.118C>A
8g.60742906C>GCA371303112CHD7n.1987C>G
c.1474C>G (p.Gln492Glu)
c.118C>G
8g.60742906C>TCA371303110CHD7n.1987C>T
c.1474C>T (p.Gln492Ter)
c.118C>T
8g.60742907A=CA1788098350CHD7n.1988A=
c.1475A= (p.Gln492=)
c.119A=
8g.60742907A>CCA371303116CHD7n.1988A>C
c.1475A>C (p.Gln492Pro)
c.119A>C
8g.60742907A>GCA371303118CHD7n.1988A>G
c.1475A>G (p.Gln492Arg)
c.119A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60742907A>TCA371303120CHD7n.1988A>T
c.1475A>T (p.Gln492Leu)
c.119A>T
8g.60742908G>ACA461103889CHD7n.1989G>A
c.1476G>A (p.Gln492=)
c.120G>A
8g.60742908G>CCA371303122CHD7n.1989G>C
c.1476G>C (p.Gln492His)
c.120G>C
8g.60742908G>TCA371303124CHD7n.1989G>T
c.1476G>T (p.Gln492His)
c.120G>T
8g.60742909G>ACA371303126CHD7n.1990G>A
c.1477G>A (p.Glu493Lys)
c.121G>A
8g.60742909G>CCA371303129CHD7n.1990G>C
c.1477G>C (p.Glu493Gln)
c.121G>C
 gnomAD v4
8g.60742909G>TCA371303130CHD7n.1990G>T
c.1477G>T (p.Glu493Ter)
c.121G>T
8g.60742910A>CCA371303131CHD7n.1991A>C
c.1478A>C (p.Glu493Ala)
c.122A>C
8g.60742910A>GCA371303134CHD7n.1991A>G
c.1478A>G (p.Glu493Gly)
c.122A>G
8g.60742910A>TCA371303132CHD7n.1991A>T
c.1478A>T (p.Glu493Val)
c.122A>T
8g.60742911A>CCA371303136CHD7n.1992A>C
c.1479A>C (p.Glu493Asp)
c.123A>C
8g.60742911A>GCA461103893CHD7n.1992A>G
c.1479A>G (p.Glu493=)
c.123A>G
8g.60742911A>TCA371303138CHD7n.1992A>T
c.1479A>T (p.Glu493Asp)
c.123A>T
8g.60742912C>ACA461103894CHD7n.1993C>A
c.1480C>A (p.Arg494=)
c.124C>A
8g.60742912C=CA1788098355CHD7n.1993C=
c.1480C= (p.Arg494=)
c.124C=
8g.60742912C>GCA371303139CHD7n.1993C>G
c.1480C>G (p.Arg494Gly)
c.124C>G
8g.60742912C>TCA271280CHD7n.1993C>T
c.1480C>T (p.Arg494Ter)
c.124C>T
 ClinVar dbSNP
8g.60742913G>ACA177313540CHD7n.1994G>A
c.1481G>A (p.Arg494Gln)
c.125G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60742913G>CCA371303143CHD7n.1994G>C
c.1481G>C (p.Arg494Pro)
c.125G>C
8g.60742913G=CA1788098359CHD7n.1994G=
c.1481G= (p.Arg494=)
c.125G=
8g.60742913G>TCA371303142CHD7n.1994G>T
c.1481G>T (p.Arg494Leu)
c.125G>T
8g.60742914A>CCA461103900CHD7n.1995A>C
c.1482A>C (p.Arg494=)
c.126A>C
8g.60742914A>GCA461103898CHD7n.1995A>G
c.1482A>G (p.Arg494=)
c.126A>G
8g.60742914A>TCA461103899CHD7n.1995A>T
c.1482A>T (p.Arg494=)
c.126A>T
8g.60742915C>ACA371303145CHD7n.1996C>A
c.1483C>A (p.Leu495Met)
c.127C>A
8g.60742915C>GCA371303147CHD7n.1996C>G
c.1483C>G (p.Leu495Val)
c.127C>G
8g.60742915C>TCA461103901CHD7n.1996C>T
c.1483C>T (p.Leu495=)
c.127C>T
8g.60742916T>ACA371303150CHD7n.1997T>A
c.1484T>A (p.Leu495Gln)
c.128T>A
8g.60742916T>CCA371303151CHD7n.1997T>C
c.1484T>C (p.Leu495Pro)
c.128T>C
8g.60742916T>GCA371303153CHD7n.1997T>G
c.1484T>G (p.Leu495Arg)
c.128T>G
8g.60742917G>ACA461103902CHD7n.1998G>A
c.1485G>A (p.Leu495=)
c.129G>A
8g.60742917G>CCA461103903CHD7n.1998G>C
c.1485G>C (p.Leu495=)
c.129G>C
8g.60742917G>TCA461103904CHD7n.1998G>T
c.1485G>T (p.Leu495=)
c.129G>T
8g.60742918A>CCA371303156CHD7n.1999A>C
c.1486A>C (p.Ile496Leu)
c.130A>C
8g.60742918A>GCA371303158CHD7n.1999A>G
c.1486A>G (p.Ile496Val)
c.130A>G
8g.60742918A>TCA371303159CHD7n.1999A>T
c.1486A>T (p.Ile496Leu)
c.130A>T
8g.60742919T>ACA371303162CHD7n.2000T>A
c.1487T>A (p.Ile496Lys)
c.131T>A
8g.60742919T>CCA371303163CHD7n.2000T>C
c.1487T>C (p.Ile496Thr)
c.131T>C
8g.60742919T>GCA371303166CHD7n.2000T>G
c.1487T>G (p.Ile496Arg)
c.131T>G
8g.60742919T=CA1788098384CHD7n.2000T=
c.1487T= (p.Ile496=)
c.131T=
8g.60742920A>CCA461103908CHD7n.2001A>C
c.1488A>C (p.Ile496=)
c.132A>C
8g.60742920A>GCA371303168CHD7n.2001A>G
c.1488A>G (p.Ile496Met)
c.132A>G
8g.60742920A>TCA461103909CHD7n.2001A>T
c.1488A>T (p.Ile496=)
c.132A>T
8g.60742920dupCA334553CHD7n.2001dup
c.1488dup (p.Pro497ThrfsTer?)
c.132dup
 ClinVar dbSNP
8g.60742920_60742935delinsACCTGGCCAACAACATCA1788098399CHD7n.2001_2016delinsACCTGGCCAACAACAT
c.1488_1503delinsACCTGGCCAACAACAT (p.Ile496=)
c.132_147delinsACCTGGCCAACAACAT
8g.60742921C>ACA4759500CHD7n.2002C>A
c.1489C>A (p.Pro497Thr)
c.133C>A
 ClinVar dbSNP ExAC gnomAD v2
8g.60742921C=CA1788098404CHD7n.2002C=
c.1489C= (p.Pro497=)
c.133C=
8g.60742921C>GCA371303171CHD7n.2002C>G
c.1489C>G (p.Pro497Ala)
c.133C>G
 gnomAD v4
8g.60742921C>TCA371303173CHD7n.2002C>T
c.1489C>T (p.Pro497Ser)
c.133C>T
8g.60742926_60742940delCA853920786CHD7n.2007_2021del
c.1494_1508del (p.Gln499_Gly503del)
c.138_152del
 dbSNP gnomAD v3 gnomAD v4
8g.60742922C>ACA371303176CHD7n.2003C>A
c.1490C>A (p.Pro497His)
c.134C>A
8g.60742922C>GCA371303178CHD7n.2003C>G
c.1490C>G (p.Pro497Arg)
c.134C>G
 gnomAD v4
8g.60742922C>TCA371303179CHD7n.2003C>T
c.1490C>T (p.Pro497Leu)
c.134C>T
8g.60742923T>ACA461103912CHD7n.2004T>A
c.1491T>A (p.Pro497=)
c.135T>A
8g.60742923T>CCA461103914CHD7n.2004T>C
c.1491T>C (p.Pro497=)
c.135T>C
 dbSNP gnomAD v2
8g.60742923T>GCA461103915CHD7n.2004T>G
c.1491T>G (p.Pro497=)
c.135T>G
8g.60742923T=CA1788098414CHD7n.2004T=
c.1491T= (p.Pro497=)
c.135T=
8g.60742924G>ACA371303182CHD7n.2005G>A
c.1492G>A (p.Gly498Ser)
c.136G>A
 dbSNP
8g.60742924G>CCA371303183CHD7n.2005G>C
c.1492G>C (p.Gly498Arg)
c.136G>C
8g.60742924G=CA1788084990CHD7n.2005G=
c.1492G= (p.Gly498=)
c.136G=
8g.60742924G>TCA371303185CHD7n.2005G>T
c.1492G>T (p.Gly498Cys)
c.136G>T
8g.60742925G>ACA4759501CHD7n.2006G>A
c.1493G>A (p.Gly498Asp)
c.137G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60742925G>CCA371303188CHD7n.2006G>C
c.1493G>C (p.Gly498Ala)
c.137G>C
8g.60742925G=CA1788084995CHD7n.2006G=
c.1493G= (p.Gly498=)
c.137G=
8g.60742925G>TCA371303187CHD7n.2006G>T
c.1493G>T (p.Gly498Val)
c.137G>T
8g.60742926C>ACA461103916CHD7n.2007C>A
c.1494C>A (p.Gly498=)
c.138C>A
8g.60742926C=CA1788085000CHD7n.2007C=
c.1494C= (p.Gly498=)
c.138C=
8g.60742926C>GCA461103917CHD7n.2007C>G
c.1494C>G (p.Gly498=)
c.138C>G
8g.60742926C>TCA461103918CHD7n.2007C>T
c.1494C>T (p.Gly498=)
c.138C>T
 dbSNP gnomAD v2 gnomAD v4
8g.60742927C>ACA371303190CHD7n.2008C>A
c.1495C>A (p.Gln499Lys)
c.139C>A
8g.60742927C>GCA371303192CHD7n.2008C>G
c.1495C>G (p.Gln499Glu)
c.139C>G
8g.60742927C>TCA371303194CHD7n.2008C>T
c.1495C>T (p.Gln499Ter)
c.139C>T
8g.60742932_60742946delCA2687395202CHD7n.2013_2027del
c.1500_1514del (p.His501_Gln505del)
c.144_158del
 gnomAD v4
8g.60742928A>CCA371303196CHD7n.2009A>C
c.1496A>C (p.Gln499Pro)
c.140A>C
8g.60742928A>GCA371303197CHD7n.2009A>G
c.1496A>G (p.Gln499Arg)
c.140A>G
8g.60742928A>TCA371303199CHD7n.2009A>T
c.1496A>T (p.Gln499Leu)
c.140A>T
8g.60742928_60742929delinsAACA1788085013CHD7n.2009_2010delinsAA
c.1496_1497delinsAA (p.Gln499=)
c.140_141delinsAA
8g.60742928_60742929delinsGCCA916080396CHD7n.2009_2010delinsGC
c.1496_1497delinsGC (p.Gln499Arg)
c.140_141delinsGC
 ClinVar dbSNP
8g.60742929A=CA1788085026CHD7n.2010A=
c.1497A= (p.Gln499=)
c.141A=
8g.60742929A>CCA371303201CHD7n.2010A>C
c.1497A>C (p.Gln499His)
c.141A>C
8g.60742929A>GCA4759502CHD7n.2010A>G
c.1497A>G (p.Gln499=)
c.141A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60742929A>TCA371303203CHD7n.2010A>T
c.1497A>T (p.Gln499His)
c.141A>T
8g.60742930C>ACA371303206CHD7n.2011C>A
c.1498C>A (p.Gln500Lys)
c.142C>A
8g.60742930C>GCA371303208CHD7n.2011C>G
c.1498C>G (p.Gln500Glu)
c.142C>G
8g.60742930C>TCA371303211CHD7n.2011C>T
c.1498C>T (p.Gln500Ter)
c.142C>T
8g.60742931A=CA1788085087CHD7n.2012A=
c.1499A= (p.Gln500=)
c.143A=
8g.60742931A>CCA371303213CHD7n.2012A>C
c.1499A>C (p.Gln500Pro)
c.143A>C
8g.60742931A>GCA371303215CHD7n.2012A>G
c.1499A>G (p.Gln500Arg)
c.143A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60742931A>TCA371303217CHD7n.2012A>T
c.1499A>T (p.Gln500Leu)
c.143A>T
8g.60742932A>CCA371303218CHD7n.2013A>C
c.1500A>C (p.Gln500His)
c.144A>C
8g.60742932A>GCA461103924CHD7n.2013A>G
c.1500A>G (p.Gln500=)
c.144A>G
8g.60742932A>TCA371303219CHD7n.2013A>T
c.1500A>T (p.Gln500His)
c.144A>T
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

Number of alleles fetched