Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
8g.60743034C>ACA371303638CHD7n.2115C>A
c.1602C>A (p.His534Gln)
c.246C>A
c.3C>A (p.His1Gln)
 ClinVar dbSNP gnomAD v4
8g.60743034C=CA1788085520CHD7n.2115C=
c.1602C= (p.His534=)
c.246C=
c.3C= (p.His1=)
8g.60743034C>GCA371303640CHD7n.2115C>G
c.1602C>G (p.His534Gln)
c.246C>G
c.3C>G (p.His1Gln)
 gnomAD v4
8g.60743034C>TCA461104023CHD7n.2115C>T
c.1602C>T (p.His534=)
c.246C>T
c.3C>T (p.His1=)
 dbSNP
8g.60743035C>ACA4759519CHD7n.2116C>A
c.1603C>A (p.Gln535Lys)
c.247C>A
c.4C>A (p.Gln2Lys)
 dbSNP ExAC
8g.60743035C=CA1788085526CHD7n.2116C=
c.1603C= (p.Gln535=)
c.247C=
c.4C= (p.Gln2=)
8g.60743035C>GCA371303644CHD7n.2116C>G
c.1603C>G (p.Gln535Glu)
c.247C>G
c.4C>G (p.Gln2Glu)
8g.60743035C>TCA371303646CHD7n.2116C>T
c.1603C>T (p.Gln535Ter)
c.247C>T
c.4C>T (p.Gln2Ter)
 ClinVar dbSNP
8g.60743036A=CA1788085534CHD7n.2117A=
c.1604A= (p.Gln535=)
c.248A=
c.5A= (p.Gln2=)
8g.60743036A>CCA371303648CHD7n.2117A>C
c.1604A>C (p.Gln535Pro)
c.248A>C
c.5A>C (p.Gln2Pro)
8g.60743036A>GCA371303650CHD7n.2117A>G
c.1604A>G (p.Gln535Arg)
c.248A>G
c.5A>G (p.Gln2Arg)
8g.60743036A>TCA371303652CHD7n.2117A>T
c.1604A>T (p.Gln535Leu)
c.248A>T
c.5A>T (p.Gln2Leu)
 ClinVar dbSNP
8g.60743037G>ACA461104025CHD7n.2118G>A
c.1605G>A (p.Gln535=)
c.249G>A
c.6G>A (p.Gln2=)
8g.60743037G>CCA371303654CHD7n.2118G>C
c.1605G>C (p.Gln535His)
c.249G>C
c.6G>C (p.Gln2His)
8g.60743037G>TCA371303656CHD7n.2118G>T
c.1605G>T (p.Gln535His)
c.249G>T
c.6G>T (p.Gln2His)
8g.60743038C>ACA371303658CHD7n.2119C>A
c.1606C>A (p.Pro536Thr)
c.250C>A
c.7C>A (p.Pro3Thr)
8g.60743038C>GCA371303660CHD7n.2119C>G
c.1606C>G (p.Pro536Ala)
c.250C>G
c.7C>G (p.Pro3Ala)
8g.60743038C>TCA371303662CHD7n.2119C>T
c.1606C>T (p.Pro536Ser)
c.250C>T
c.7C>T (p.Pro3Ser)
8g.60743039C>ACA371303666CHD7n.2120C>A
c.1607C>A (p.Pro536His)
c.251C>A
c.8C>A (p.Pro3His)
8g.60743039C>GCA371303668CHD7n.2120C>G
c.1607C>G (p.Pro536Arg)
c.251C>G
c.8C>G (p.Pro3Arg)
8g.60743039C>TCA371303664CHD7n.2120C>T
c.1607C>T (p.Pro536Leu)
c.251C>T
c.8C>T (p.Pro3Leu)
8g.60743040T>ACA461104029CHD7n.2121T>A
c.1608T>A (p.Pro536=)
c.252T>A
c.9T>A (p.Pro3=)
8g.60743040T>CCA461104030CHD7n.2121T>C
c.1608T>C (p.Pro536=)
c.252T>C
c.9T>C (p.Pro3=)
8g.60743040T>GCA461104031CHD7n.2121T>G
c.1608T>G (p.Pro536=)
c.252T>G
c.9T>G (p.Pro3=)
8g.60743041T>ACA371303674CHD7n.2122T>A
c.1609T>A (p.Trp537Arg)
c.253T>A
c.10T>A (p.Trp4Arg)
8g.60743041T>CCA371303670CHD7n.2122T>C
c.1609T>C (p.Trp537Arg)
c.253T>C
c.10T>C (p.Trp4Arg)
8g.60743041T>GCA371303672CHD7n.2122T>G
c.1609T>G (p.Trp537Gly)
c.253T>G
c.10T>G (p.Trp4Gly)
8g.60743042G>ACA371303676CHD7n.2123G>A
c.1610G>A (p.Trp537Ter)
c.254G>A
c.11G>A (p.Trp4Ter)
8g.60743042G>CCA371303678CHD7n.2123G>C
c.1610G>C (p.Trp537Ser)
c.254G>C
c.11G>C (p.Trp4Ser)
8g.60743042G>TCA371303679CHD7n.2123G>T
c.1610G>T (p.Trp537Leu)
c.254G>T
c.11G>T (p.Trp4Leu)
8g.60743042_60743043insACA2695209582CHD7n.2123_2124insA
c.1610_1611insA (p.Trp537Ter)
c.254_255insA
c.11_12insA (p.Trp4Ter)
8g.60743043G>ACA371303685CHD7n.2124G>A
c.1611G>A (p.Trp537Ter)
c.255G>A
c.12G>A (p.Trp4Ter)
8g.60743043G>CCA371303683CHD7n.2124G>C
c.1611G>C (p.Trp537Cys)
c.255G>C
c.12G>C (p.Trp4Cys)
8g.60743043G>TCA371303681CHD7n.2124G>T
c.1611G>T (p.Trp537Cys)
c.255G>T
c.12G>T (p.Trp4Cys)
8g.60743044G>ACA371303687CHD7n.2125G>A
c.1612G>A (p.Ala538Thr)
c.256G>A
c.13G>A (p.Ala5Thr)
8g.60743044G>CCA371303689CHD7n.2125G>C
c.1612G>C (p.Ala538Pro)
c.256G>C
c.13G>C (p.Ala5Pro)
8g.60743044G>TCA371303691CHD7n.2125G>T
c.1612G>T (p.Ala538Ser)
c.256G>T
c.13G>T (p.Ala5Ser)
8g.60743045C>ACA371303693CHD7n.2126C>A
c.1613C>A (p.Ala538Glu)
c.257C>A
c.14C>A (p.Ala5Glu)
 dbSNP
8g.60743045C=CA1788085554CHD7n.2126C=
c.1613C= (p.Ala538=)
c.257C=
c.14C= (p.Ala5=)
8g.60743045C>GCA371303694CHD7n.2126C>G
c.1613C>G (p.Ala538Gly)
c.257C>G
c.14C>G (p.Ala5Gly)
8g.60743045C>TCA371303696CHD7n.2126C>T
c.1613C>T (p.Ala538Val)
c.257C>T
c.14C>T (p.Ala5Val)
 dbSNP gnomAD v2 gnomAD v4
8g.60743046A>CCA461104036CHD7n.2127A>C
c.1614A>C (p.Ala538=)
c.258A>C
c.15A>C (p.Ala5=)
8g.60743046A>GCA461104037CHD7n.2127A>G
c.1614A>G (p.Ala538=)
c.258A>G
c.15A>G (p.Ala5=)
8g.60743046A>TCA461104038CHD7n.2127A>T
c.1614A>T (p.Ala538=)
c.258A>T
c.15A>T (p.Ala5=)
 COSMIC
8g.60743047C>ACA371303698CHD7n.2128C>A
c.1615C>A (p.Gln539Lys)
c.259C>A
c.16C>A (p.Gln6Lys)
8g.60743047C>GCA371303702CHD7n.2128C>G
c.1615C>G (p.Gln539Glu)
c.259C>G
c.16C>G (p.Gln6Glu)
 gnomAD v4
8g.60743047C>TCA371303700CHD7n.2128C>T
c.1615C>T (p.Gln539Ter)
c.259C>T
c.16C>T (p.Gln6Ter)
8g.60743048A>CCA371303704CHD7n.2129A>C
c.1616A>C (p.Gln539Pro)
c.260A>C
c.17A>C (p.Gln6Pro)
 gnomAD v4
8g.60743048A>GCA371303706CHD7n.2129A>G
c.1616A>G (p.Gln539Arg)
c.260A>G
c.17A>G (p.Gln6Arg)
8g.60743048A>TCA371303707CHD7n.2129A>T
c.1616A>T (p.Gln539Leu)
c.260A>T
c.17A>T (p.Gln6Leu)
8g.60743049G>ACA461104041CHD7n.2130G>A
c.1617G>A (p.Gln539=)
c.261G>A
c.18G>A (p.Gln6=)
8g.60743049G>CCA371303710CHD7n.2130G>C
c.1617G>C (p.Gln539His)
c.261G>C
c.18G>C (p.Gln6His)
 gnomAD v4
8g.60743049G>TCA371303711CHD7n.2130G>T
c.1617G>T (p.Gln539His)
c.261G>T
c.18G>T (p.Gln6His)
8g.60743050C>ACA371303713CHD7n.2131C>A
c.1618C>A (p.Leu540Ile)
c.262C>A
c.19C>A (p.Leu7Ile)
8g.60743050C=CA1788085562CHD7n.2131C=
c.1618C= (p.Leu540=)
c.262C=
c.19C= (p.Leu7=)
8g.60743050C>GCA371303715CHD7n.2131C>G
c.1618C>G (p.Leu540Val)
c.262C>G
c.19C>G (p.Leu7Val)
8g.60743050C>TCA371303717CHD7n.2131C>T
c.1618C>T (p.Leu540Phe)
c.262C>T
c.19C>T (p.Leu7Phe)
 dbSNP gnomAD v4
8g.60743051T>ACA371303720CHD7n.2132T>A
c.1619T>A (p.Leu540His)
c.263T>A
c.20T>A (p.Leu7His)
8g.60743051T>CCA371303722CHD7n.2132T>C
c.1619T>C (p.Leu540Pro)
c.263T>C
c.20T>C (p.Leu7Pro)
8g.60743051T>GCA371303723CHD7n.2132T>G
c.1619T>G (p.Leu540Arg)
c.263T>G
c.20T>G (p.Leu7Arg)
8g.60743052C>ACA461104043CHD7n.2133C>A
c.1620C>A (p.Leu540=)
c.264C>A
c.21C>A (p.Leu7=)
8g.60743052C>GCA461104045CHD7n.2133C>G
c.1620C>G (p.Leu540=)
c.264C>G
c.21C>G (p.Leu7=)
8g.60743052C>TCA461104046CHD7n.2133C>T
c.1620C>T (p.Leu540=)
c.264C>T
c.21C>T (p.Leu7=)
8g.60743053C>ACA371303728CHD7n.2134C>A
c.1621C>A (p.His541Asn)
c.265C>A
c.22C>A (p.His8Asn)
8g.60743053C>GCA371303727CHD7n.2134C>G
c.1621C>G (p.His541Asp)
c.265C>G
c.22C>G (p.His8Asp)
8g.60743053C>TCA371303725CHD7n.2134C>T
c.1621C>T (p.His541Tyr)
c.265C>T
c.22C>T (p.His8Tyr)
 gnomAD v4
8g.60743054A=CA1788085570CHD7n.2135A=
c.1622A= (p.His541=)
c.266A=
c.23A= (p.His8=)
8g.60743054A>CCA371303731CHD7n.2135A>C
c.1622A>C (p.His541Pro)
c.266A>C
c.23A>C (p.His8Pro)
8g.60743054A>GCA371303732CHD7n.2135A>G
c.1622A>G (p.His541Arg)
c.266A>G
c.23A>G (p.His8Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60743054A>TCA371303734CHD7n.2135A>T
c.1622A>T (p.His541Leu)
c.266A>T
c.23A>T (p.His8Leu)
8g.60743055C>ACA371303736CHD7n.2136C>A
c.1623C>A (p.His541Gln)
c.267C>A
c.24C>A (p.His8Gln)
 ClinVar
8g.60743055C=CA1788085584CHD7n.2136C=
c.1623C= (p.His541=)
c.267C=
c.24C= (p.His8=)
8g.60743055C>GCA371303738CHD7n.2136C>G
c.1623C>G (p.His541Gln)
c.267C>G
c.24C>G (p.His8Gln)
8g.60743055C>TCA177313652CHD7n.2136C>T
c.1623C>T (p.His541=)
c.267C>T
c.24C>T (p.His8=)
 dbSNP
8g.60743056C>ACA371303741CHD7n.2137C>A
c.1624C>A (p.Pro542Thr)
c.268C>A
c.25C>A (p.Pro9Thr)
8g.60743056C=CA1788085589CHD7n.2137C=
c.1624C= (p.Pro542=)
c.268C=
c.25C= (p.Pro9=)
8g.60743056C>GCA371303743CHD7n.2137C>G
c.1624C>G (p.Pro542Ala)
c.268C>G
c.25C>G (p.Pro9Ala)
8g.60743056C>TCA371303745CHD7n.2137C>T
c.1624C>T (p.Pro542Ser)
c.268C>T
c.25C>T (p.Pro9Ser)
 dbSNP gnomAD v4
8g.60743057C>ACA371303747CHD7n.2138C>A
c.1625C>A (p.Pro542Gln)
c.269C>A
c.26C>A (p.Pro9Gln)
8g.60743057C>GCA371303749CHD7n.2138C>G
c.1625C>G (p.Pro542Arg)
c.269C>G
c.26C>G (p.Pro9Arg)
8g.60743057C>TCA371303751CHD7n.2138C>T
c.1625C>T (p.Pro542Leu)
c.269C>T
c.26C>T (p.Pro9Leu)
8g.60743058A=CA1788085593CHD7n.2139A=
c.1626A= (p.Pro542=)
c.270A=
c.27A= (p.Pro9=)
8g.60743058A>CCA461104050CHD7n.2139A>C
c.1626A>C (p.Pro542=)
c.270A>C
c.27A>C (p.Pro9=)
8g.60743058A>GCA4759520CHD7n.2139A>G
c.1626A>G (p.Pro542=)
c.270A>G
c.27A>G (p.Pro9=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60743058A>TCA461104052CHD7n.2139A>T
c.1626A>T (p.Pro542=)
c.270A>T
c.27A>T (p.Pro9=)
8g.60743059T>ACA371303757CHD7n.2140T>A
c.1627T>A (p.Ser543Thr)
c.271T>A
c.28T>A (p.Ser10Thr)
8g.60743059T>CCA371303759CHD7n.2140T>C
c.1627T>C (p.Ser543Pro)
c.271T>C
c.28T>C (p.Ser10Pro)
8g.60743059T>GCA371303755CHD7n.2140T>G
c.1627T>G (p.Ser543Ala)
c.271T>G
c.28T>G (p.Ser10Ala)
8g.60743060C>ACA371303761CHD7n.2141C>A
c.1628C>A (p.Ser543Ter)
c.272C>A
c.29C>A (p.Ser10Ter)
8g.60743060C>GCA371303762CHD7n.2141C>G
c.1628C>G (p.Ser543Ter)
c.272C>G
c.29C>G (p.Ser10Ter)
8g.60743060C>TCA371303763CHD7n.2141C>T
c.1628C>T (p.Ser543Leu)
c.272C>T
c.29C>T (p.Ser10Leu)
 gnomAD v4
8g.60743061A>CCA461104055CHD7n.2142A>C
c.1629A>C (p.Ser543=)
c.273A>C
c.30A>C (p.Ser10=)
8g.60743061A>GCA461104056CHD7n.2142A>G
c.1629A>G (p.Ser543=)
c.273A>G
c.30A>G (p.Ser10=)
8g.60743061A>TCA461104057CHD7n.2142A>T
c.1629A>T (p.Ser543=)
c.273A>T
c.30A>T (p.Ser10=)
8g.60743062C>ACA371303764CHD7n.2143C>A
c.1630C>A (p.Pro544Thr)
c.274C>A
c.31C>A (p.Pro11Thr)
8g.60743062C=CA1788085600CHD7n.2143C=
c.1630C= (p.Pro544=)
c.274C=
c.31C= (p.Pro11=)
8g.60743062C>GCA371303765CHD7n.2143C>G
c.1630C>G (p.Pro544Ala)
c.274C>G
c.31C>G (p.Pro11Ala)
 gnomAD v4
8g.60743062C>TCA371303766CHD7n.2143C>T
c.1630C>T (p.Pro544Ser)
c.274C>T
c.31C>T (p.Pro11Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60743065dupCA2573053029CHD7n.2146dup
c.1633dup (p.Gln545ProfsTer30)
c.1633dup (p.Gln545ProfsTer?)
c.277dup
c.34dup (p.Gln12ProfsTer?)
 ClinVar dbSNP
8g.60743063C>ACA371303767CHD7n.2144C>A
c.1631C>A (p.Pro544His)
c.275C>A
c.32C>A (p.Pro11His)
8g.60743063C>GCA371303769CHD7n.2144C>G
c.1631C>G (p.Pro544Arg)
c.275C>G
c.32C>G (p.Pro11Arg)
8g.60743063C>TCA371303768CHD7n.2144C>T
c.1631C>T (p.Pro544Leu)
c.275C>T
c.32C>T (p.Pro11Leu)
8g.60743064C>ACA461104061CHD7n.2145C>A
c.1632C>A (p.Pro544=)
c.276C>A
c.33C>A (p.Pro11=)
8g.60743064C=CA1788085602CHD7n.2145C=
c.1632C= (p.Pro544=)
c.276C=
c.33C= (p.Pro11=)
8g.60743064C>GCA177313656CHD7n.2145C>G
c.1632C>G (p.Pro544=)
c.276C>G
c.33C>G (p.Pro11=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60743064C>TCA4759521CHD7n.2145C>T
c.1632C>T (p.Pro544=)
c.276C>T
c.33C>T (p.Pro11=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60743065C>ACA371303770CHD7n.2146C>A
c.1633C>A (p.Gln545Lys)
c.277C>A
c.34C>A (p.Gln12Lys)
8g.60743065C>GCA371303771CHD7n.2146C>G
c.1633C>G (p.Gln545Glu)
c.277C>G
c.34C>G (p.Gln12Glu)
8g.60743065C>TCA371303772CHD7n.2146C>T
c.1633C>T (p.Gln545Ter)
c.277C>T
c.34C>T (p.Gln12Ter)
 ClinVar
8g.60743066A=CA1788085609CHD7n.2147A=
c.1634A= (p.Gln545=)
c.278A=
c.35A= (p.Gln12=)
8g.60743066A>CCA371303774CHD7n.2147A>C
c.1634A>C (p.Gln545Pro)
c.278A>C
c.35A>C (p.Gln12Pro)
8g.60743066A>GCA4759522CHD7n.2147A>G
c.1634A>G (p.Gln545Arg)
c.278A>G
c.35A>G (p.Gln12Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60743066A>TCA371303773CHD7n.2147A>T
c.1634A>T (p.Gln545Leu)
c.278A>T
c.35A>T (p.Gln12Leu)
8g.60743067G>ACA461104063CHD7n.2148G>A
c.1635G>A (p.Gln545=)
c.279G>A
c.36G>A (p.Gln12=)
8g.60743067G>CCA371303776CHD7n.2148G>C
c.1635G>C (p.Gln545His)
c.279G>C
c.36G>C (p.Gln12His)
8g.60743067G>TCA371303775CHD7n.2148G>T
c.1635G>T (p.Gln545His)
c.279G>T
c.36G>T (p.Gln12His)
8g.60743068A>CCA371303778CHD7n.2149A>C
c.1636A>C (p.Asn546His)
c.280A>C
c.37A>C (p.Asn13His)
8g.60743068A>GCA371303777CHD7n.2149A>G
c.1636A>G (p.Asn546Asp)
c.280A>G
c.37A>G (p.Asn13Asp)
8g.60743068A>TCA371303779CHD7n.2149A>T
c.1636A>T (p.Asn546Tyr)
c.280A>T
c.37A>T (p.Asn13Tyr)
8g.60743069A>CCA371303780CHD7n.2150A>C
c.1637A>C (p.Asn546Thr)
c.281A>C
c.38A>C (p.Asn13Thr)
8g.60743069A>GCA371303782CHD7n.2150A>G
c.1637A>G (p.Asn546Ser)
c.281A>G
c.38A>G (p.Asn13Ser)
8g.60743069A>TCA371303781CHD7n.2150A>T
c.1637A>T (p.Asn546Ile)
c.281A>T
c.38A>T (p.Asn13Ile)
8g.60743070C>ACA371303783CHD7n.2151C>A
c.1638C>A (p.Asn546Lys)
c.282C>A
c.39C>A (p.Asn13Lys)
8g.60743070C>GCA371303784CHD7n.2151C>G
c.1638C>G (p.Asn546Lys)
c.282C>G
c.39C>G (p.Asn13Lys)
8g.60743070C>TCA461104065CHD7n.2151C>T
c.1638C>T (p.Asn546=)
c.282C>T
c.39C>T (p.Asn13=)
8g.60743071A=CA1788085613CHD7n.2152A=
c.1639A= (p.Thr547=)
c.283A=
c.40A= (p.Thr14=)
8g.60743071A>CCA371303785CHD7n.2152A>C
c.1639A>C (p.Thr547Pro)
c.283A>C
c.40A>C (p.Thr14Pro)
 ClinVar dbSNP
8g.60743071A>GCA371303787CHD7n.2152A>G
c.1639A>G (p.Thr547Ala)
c.283A>G
c.40A>G (p.Thr14Ala)
8g.60743071A>TCA371303786CHD7n.2152A>T
c.1639A>T (p.Thr547Ser)
c.283A>T
c.40A>T (p.Thr14Ser)
8g.60743072C>ACA371303788CHD7n.2153C>A
c.1640C>A (p.Thr547Asn)
c.284C>A
c.41C>A (p.Thr14Asn)
8g.60743072C>GCA371303789CHD7n.2153C>G
c.1640C>G (p.Thr547Ser)
c.284C>G
c.41C>G (p.Thr14Ser)
8g.60743072C>TCA371303790CHD7n.2153C>T
c.1640C>T (p.Thr547Ile)
c.284C>T
c.41C>T (p.Thr14Ile)

Number of alleles fetched