Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60781034T>ACA371311399CHD7n.2213T>A
c.1700T>A (p.Val567Glu)
c.344T>A
c.101T>A (p.Val34Glu)
8g.60781034T>CCA371311402CHD7n.2213T>C
c.1700T>C (p.Val567Ala)
c.344T>C
c.101T>C (p.Val34Ala)
 gnomAD v4
8g.60781034T>GCA371311404CHD7n.2213T>G
c.1700T>G (p.Val567Gly)
c.344T>G
c.101T>G (p.Val34Gly)
8g.60781035G>ACA461104149CHD7n.2214G>A
c.1701G>A (p.Val567=)
c.345G>A
c.102G>A (p.Val34=)
8g.60781035G>CCA461104150CHD7n.2214G>C
c.1701G>C (p.Val567=)
c.345G>C
c.102G>C (p.Val34=)
8g.60781035G>TCA461104151CHD7n.2214G>T
c.1701G>T (p.Val567=)
c.345G>T
c.102G>T (p.Val34=)
8g.60781036C>ACA371311408CHD7n.2215C>A
c.1702C>A (p.Pro568Thr)
c.346C>A
c.103C>A (p.Pro35Thr)
 dbSNP gnomAD v3 gnomAD v4
8g.60781036C=CA1788144784CHD7n.2215C=
c.1702C= (p.Pro568=)
c.346C=
c.103C= (p.Pro35=)
8g.60781036C>GCA371311411CHD7n.2215C>G
c.1702C>G (p.Pro568Ala)
c.346C>G
c.103C>G (p.Pro35Ala)
8g.60781036C>TCA371311413CHD7n.2215C>T
c.1702C>T (p.Pro568Ser)
c.346C>T
c.103C>T (p.Pro35Ser)
8g.60781037C>ACA371311423CHD7n.2216C>A
c.1703C>A (p.Pro568Gln)
c.347C>A
c.104C>A (p.Pro35Gln)
 gnomAD v4
8g.60781037C=CA1788144785CHD7n.2216C=
c.1703C= (p.Pro568=)
c.347C=
c.104C= (p.Pro35=)
8g.60781037C>GCA371311420CHD7n.2216C>G
c.1703C>G (p.Pro568Arg)
c.347C>G
c.104C>G (p.Pro35Arg)
8g.60781037C>TCA4759558CHD7n.2216C>T
c.1703C>T (p.Pro568Leu)
c.347C>T
c.104C>T (p.Pro35Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60781038G>ACA4759559CHD7n.2217G>A
c.1704G>A (p.Pro568=)
c.348G>A
c.105G>A (p.Pro35=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60781038G>CCA4759560CHD7n.2217G>C
c.1704G>C (p.Pro568=)
c.348G>C
c.105G>C (p.Pro35=)
 dbSNP ExAC gnomAD v4
8g.60781038G=CA1788144786CHD7n.2217G=
c.1704G= (p.Pro568=)
c.348G=
c.105G= (p.Pro35=)
8g.60781038G>TCA461104152CHD7n.2217G>T
c.1704G>T (p.Pro568=)
c.348G>T
c.105G>T (p.Pro35=)
8g.60781039G>ACA371311432CHD7n.2218G>A
c.1705G>A (p.Asp569Asn)
c.349G>A
c.106G>A (p.Asp36Asn)
8g.60781039G>CCA371311438CHD7n.2218G>C
c.1705G>C (p.Asp569His)
c.349G>C
c.106G>C (p.Asp36His)
8g.60781039G=CA1788144787CHD7n.2218G=
c.1705G= (p.Asp569=)
c.349G=
c.106G= (p.Asp36=)
8g.60781039G>TCA371311435CHD7n.2218G>T
c.1705G>T (p.Asp569Tyr)
c.349G>T
c.106G>T (p.Asp36Tyr)
 dbSNP
8g.60781040A>CCA371311439CHD7n.2219A>C
c.1706A>C (p.Asp569Ala)
c.350A>C
c.107A>C (p.Asp36Ala)
 gnomAD v4
8g.60781040A>GCA371311445CHD7n.2219A>G
c.1706A>G (p.Asp569Gly)
c.350A>G
c.107A>G (p.Asp36Gly)
8g.60781040A>TCA371311441CHD7n.2219A>T
c.1706A>T (p.Asp569Val)
c.350A>T
c.107A>T (p.Asp36Val)
8g.60781041T>ACA371311448CHD7n.2220T>A
c.1707T>A (p.Asp569Glu)
c.351T>A
c.108T>A (p.Asp36Glu)
 ClinVar dbSNP gnomAD v4
8g.60781041T>CCA461104153CHD7n.2220T>C
c.1707T>C (p.Asp569=)
c.351T>C
c.108T>C (p.Asp36=)
8g.60781041T>GCA371311450CHD7n.2220T>G
c.1707T>G (p.Asp569Glu)
c.351T>G
c.108T>G (p.Asp36Glu)
8g.60781041T=CA1788144788CHD7n.2220T=
c.1707T= (p.Asp569=)
c.351T=
c.108T= (p.Asp36=)
8g.60781042A=CA1788144789CHD7n.2221A=
c.1708A= (p.Met570=)
c.352A=
c.109A= (p.Met37=)
8g.60781042A>CCA371311454CHD7n.2221A>C
c.1708A>C (p.Met570Leu)
c.352A>C
c.109A>C (p.Met37Leu)
8g.60781042A>GCA4759561CHD7n.2221A>G
c.1708A>G (p.Met570Val)
c.352A>G
c.109A>G (p.Met37Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60781042A>TCA371311457CHD7n.2221A>T
c.1708A>T (p.Met570Leu)
c.352A>T
c.109A>T (p.Met37Leu)
8g.60781043T>ACA371311463CHD7n.2222T>A
c.1709T>A (p.Met570Lys)
c.353T>A
c.110T>A (p.Met37Lys)
8g.60781043T>CCA371311469CHD7n.2222T>C
c.1709T>C (p.Met570Thr)
c.353T>C
c.110T>C (p.Met37Thr)
 gnomAD v4
8g.60781043T>GCA371311467CHD7n.2222T>G
c.1709T>G (p.Met570Arg)
c.353T>G
c.110T>G (p.Met37Arg)
8g.60781044G>ACA371311474CHD7n.2223G>A
c.1710G>A (p.Met570Ile)
c.354G>A
c.111G>A (p.Met37Ile)
8g.60781044G>CCA371311481CHD7n.2223G>C
c.1710G>C (p.Met570Ile)
c.354G>C
c.111G>C (p.Met37Ile)
8g.60781044G>TCA371311479CHD7n.2223G>T
c.1710G>T (p.Met570Ile)
c.354G>T
c.111G>T (p.Met37Ile)
 gnomAD v4
8g.60781045A>CCA371311484CHD7n.2224A>C
c.1711A>C (p.Thr571Pro)
c.355A>C
c.112A>C (p.Thr38Pro)
8g.60781045A>GCA371311486CHD7n.2224A>G
c.1711A>G (p.Thr571Ala)
c.355A>G
c.112A>G (p.Thr38Ala)
8g.60781045A>TCA371311490CHD7n.2224A>T
c.1711A>T (p.Thr571Ser)
c.355A>T
c.112A>T (p.Thr38Ser)
8g.60781046C>ACA371311491CHD7n.2225C>A
c.1712C>A (p.Thr571Asn)
c.356C>A
c.113C>A (p.Thr38Asn)
8g.60781046C>GCA371311493CHD7n.2225C>G
c.1712C>G (p.Thr571Ser)
c.356C>G
c.113C>G (p.Thr38Ser)
 gnomAD v4
8g.60781046C>TCA371311499CHD7n.2225C>T
c.1712C>T (p.Thr571Ile)
c.356C>T
c.113C>T (p.Thr38Ile)
8g.60781047T>ACA461104154CHD7n.2226T>A
c.1713T>A (p.Thr571=)
c.357T>A
c.114T>A (p.Thr38=)
8g.60781047T>CCA461104155CHD7n.2226T>C
c.1713T>C (p.Thr571=)
c.357T>C
c.114T>C (p.Thr38=)
8g.60781047T>GCA461104156CHD7n.2226T>G
c.1713T>G (p.Thr571=)
c.357T>G
c.114T>G (p.Thr38=)
8g.60781048C>ACA371311502CHD7n.2227C>A
c.1714C>A (p.Gln572Lys)
c.358C>A
c.115C>A (p.Gln39Lys)
8g.60781048C=CA1788144790CHD7n.2227C=
c.1714C= (p.Gln572=)
c.358C=
c.115C= (p.Gln39=)

Number of alleles fetched