Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
8g.60743073C>ACA461104067CHD7n.2154C>A
c.1641C>A (p.Thr547=)
c.285C>A
c.42C>A (p.Thr14=)
 dbSNP
8g.60743073C=CA1788085618CHD7n.2154C=
c.1641C= (p.Thr547=)
c.285C=
c.42C= (p.Thr14=)
8g.60743073C>GCA461104068CHD7n.2154C>G
c.1641C>G (p.Thr547=)
c.285C>G
c.42C>G (p.Thr14=)
8g.60743073C>TCA461104069CHD7n.2154C>T
c.1641C>T (p.Thr547=)
c.285C>T
c.42C>T (p.Thr14=)
8g.60743074C>ACA371303791CHD7n.2155C>A
c.1642C>A (p.Pro548Thr)
c.286C>A
c.43C>A (p.Pro15Thr)
8g.60743074C=CA1788085622CHD7n.2155C=
c.1642C= (p.Pro548=)
c.286C=
c.43C= (p.Pro15=)
8g.60743074C>GCA371303792CHD7n.2155C>G
c.1642C>G (p.Pro548Ala)
c.286C>G
c.43C>G (p.Pro15Ala)
 gnomAD v4
8g.60743074C>TCA4759523CHD7n.2155C>T
c.1642C>T (p.Pro548Ser)
c.286C>T
c.43C>T (p.Pro15Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60743075C>ACA371303793CHD7n.2156C>A
c.1643C>A (p.Pro548Gln)
c.287C>A
c.44C>A (p.Pro15Gln)
8g.60743075C=CA1788085625CHD7n.2156C=
c.1643C= (p.Pro548=)
c.287C=
c.44C= (p.Pro15=)
8g.60743075C>GCA371303794CHD7n.2156C>G
c.1643C>G (p.Pro548Arg)
c.287C>G
c.44C>G (p.Pro15Arg)
8g.60743075C>TCA4759524CHD7n.2156C>T
c.1643C>T (p.Pro548Leu)
c.287C>T
c.44C>T (p.Pro15Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60743076G>ACA241726CHD7n.2157G>A
c.1644G>A (p.Pro548=)
c.288G>A
c.45G>A (p.Pro15=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60743076G>CCA461104072CHD7n.2157G>C
c.1644G>C (p.Pro548=)
c.288G>C
c.45G>C (p.Pro15=)
 gnomAD v4
8g.60743076G=CA1788085635CHD7n.2157G=
c.1644G= (p.Pro548=)
c.288G=
c.45G= (p.Pro15=)
8g.60743076G>TCA4759525CHD7n.2157G>T
c.1644G>T (p.Pro548=)
c.288G>T
c.45G>T (p.Pro15=)
 dbSNP ExAC gnomAD v4
8g.60743077C>ACA371303797CHD7n.2158C>A
c.1645C>A (p.Gln549Lys)
c.289C>A
c.46C>A (p.Gln16Lys)
8g.60743077C>GCA371303795CHD7n.2158C>G
c.1645C>G (p.Gln549Glu)
c.289C>G
c.46C>G (p.Gln16Glu)
8g.60743077C>TCA371303796CHD7n.2158C>T
c.1645C>T (p.Gln549Ter)
c.289C>T
c.46C>T (p.Gln16Ter)
8g.60743078A>CCA371303798CHD7n.2159A>C
c.1646A>C (p.Gln549Pro)
c.290A>C
c.47A>C (p.Gln16Pro)
8g.60743078A>GCA371303799CHD7n.2159A>G
c.1646A>G (p.Gln549Arg)
c.290A>G
c.47A>G (p.Gln16Arg)
 ClinVar dbSNP
8g.60743078A>TCA371303800CHD7n.2159A>T
c.1646A>T (p.Gln549Leu)
c.290A>T
c.47A>T (p.Gln16Leu)
8g.60743079G>ACA461104073CHD7n.2160G>A
c.1647G>A (p.Gln549=)
c.291G>A
c.48G>A (p.Gln16=)
8g.60743079G>CCA371303801CHD7n.2160G>C
c.1647G>C (p.Gln549His)
c.291G>C
c.48G>C (p.Gln16His)
8g.60743079G>TCA371303802CHD7n.2160G>T
c.1647G>T (p.Gln549His)
c.291G>T
c.48G>T (p.Gln16His)
8g.60743080A>CCA371303803CHD7n.2161A>C
c.1648A>C (p.Lys550Gln)
c.292A>C
c.49A>C (p.Lys17Gln)
8g.60743080A>GCA371303804CHD7n.2161A>G
c.1648A>G (p.Lys550Glu)
c.292A>G
c.49A>G (p.Lys17Glu)
8g.60743080A>TCA371303805CHD7n.2161A>T
c.1648A>T (p.Lys550Ter)
c.292A>T
c.49A>T (p.Lys17Ter)
8g.60743081A>CCA371303806CHD7n.2162A>C
c.1649A>C (p.Lys550Thr)
c.293A>C
c.50A>C (p.Lys17Thr)
8g.60743081A>GCA371303807CHD7n.2162A>G
c.1649A>G (p.Lys550Arg)
c.293A>G
c.50A>G (p.Lys17Arg)
8g.60743081A>TCA371303808CHD7n.2162A>T
c.1649A>T (p.Lys550Ile)
c.293A>T
c.50A>T (p.Lys17Ile)
8g.60743082A>CCA371303809CHD7n.2163A>C
c.1650A>C (p.Lys550Asn)
c.294A>C
c.51A>C (p.Lys17Asn)
8g.60743082A>GCA461104078CHD7n.2163A>G
c.1650A>G (p.Lys550=)
c.294A>G
c.51A>G (p.Lys17=)
8g.60743082A>TCA371303810CHD7n.2163A>T
c.1650A>T (p.Lys550Asn)
c.294A>T
c.51A>T (p.Lys17Asn)
8g.60743083G>ACA371303811CHD7n.2164G>A
c.1651G>A (p.Val551Met)
c.295G>A
c.52G>A (p.Val18Met)
8g.60743083G>CCA371303812CHD7n.2164G>C
c.1651G>C (p.Val551Leu)
c.295G>C
c.52G>C (p.Val18Leu)
8g.60743083G>TCA371303813CHD7n.2164G>T
c.1651G>T (p.Val551Leu)
c.295G>T
c.52G>T (p.Val18Leu)
 gnomAD v4
8g.60743084T>ACA371303814CHD7n.2165T>A
c.1652T>A (p.Val551Glu)
c.296T>A
c.53T>A (p.Val18Glu)
8g.60743084T>CCA371303815CHD7n.2165T>C
c.1652T>C (p.Val551Ala)
c.296T>C
c.53T>C (p.Val18Ala)
8g.60743084T>GCA371303816CHD7n.2165T>G
c.1652T>G (p.Val551Gly)
c.296T>G
c.53T>G (p.Val18Gly)
8g.60743085G>ACA4759526CHD7n.2166G>A
c.1653G>A (p.Val551=)
c.297G>A
c.54G>A (p.Val18=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60743085G>CCA461104081CHD7n.2166G>C
c.1653G>C (p.Val551=)
c.297G>C
c.54G>C (p.Val18=)
8g.60743085G=CA1788085643CHD7n.2166G=
c.1653G= (p.Val551=)
c.297G=
c.54G= (p.Val18=)
8g.60743085G>TCA461104082CHD7n.2166G>T
c.1653G>T (p.Val551=)
c.297G>T
c.54G>T (p.Val18=)
 COSMIC
8g.60743086C>ACA371303817CHD7n.2167C>A
c.1654C>A (p.Pro552Thr)
c.298C>A
c.55C>A (p.Pro19Thr)
8g.60743086C>GCA371303818CHD7n.2167C>G
c.1654C>G (p.Pro552Ala)
c.298C>G
c.55C>G (p.Pro19Ala)
8g.60743086C>TCA371303819CHD7n.2167C>T
c.1654C>T (p.Pro552Ser)
c.298C>T
c.55C>T (p.Pro19Ser)
 ClinVar gnomAD v4
8g.60743087C>ACA371303820CHD7n.2168C>A
c.1655C>A (p.Pro552His)
c.299C>A
c.56C>A (p.Pro19His)
8g.60743087C>GCA371303821CHD7n.2168C>G
c.1655C>G (p.Pro552Arg)
c.299C>G
c.56C>G (p.Pro19Arg)
8g.60743087C>TCA371303822CHD7n.2168C>T
c.1655C>T (p.Pro552Leu)
c.299C>T
c.56C>T (p.Pro19Leu)
8g.60743088T>ACA461104083CHD7n.2169T>A
c.1656T>A (p.Pro552=)
c.300T>A
c.57T>A (p.Pro19=)
8g.60743088T>CCA461104084CHD7n.2169T>C
c.1656T>C (p.Pro552=)
c.300T>C
c.57T>C (p.Pro19=)
8g.60743088T>GCA461104085CHD7n.2169T>G
c.1656T>G (p.Pro552=)
c.300T>G
c.57T>G (p.Pro19=)
8g.60743089G>ACA371303823CHD7n.2170G>A
c.1657G>A (p.Val553Met)
c.301G>A
c.58G>A (p.Val20Met)
8g.60743089G>CCA371303824CHD7n.2170G>C
c.1657G>C (p.Val553Leu)
c.301G>C
c.58G>C (p.Val20Leu)
 gnomAD v4
8g.60743089G=CA1788085655CHD7n.2170G=
c.1657G= (p.Val553=)
c.301G=
c.58G= (p.Val20=)
8g.60743089G>TCA4759527CHD7n.2170G>T
c.1657G>T (p.Val553Leu)
c.301G>T
c.58G>T (p.Val20Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60743090T>ACA371303825CHD7n.2171T>A
c.1658T>A (p.Val553Glu)
c.302T>A
c.59T>A (p.Val20Glu)
8g.60743090T>CCA371303826CHD7n.2171T>C
c.1658T>C (p.Val553Ala)
c.302T>C
c.59T>C (p.Val20Ala)
8g.60743090T>GCA371303827CHD7n.2171T>G
c.1658T>G (p.Val553Gly)
c.302T>G
c.59T>G (p.Val20Gly)
8g.60743091G>ACA461104089CHD7n.2172G>A
c.1659G>A (p.Val553=)
c.303G>A
c.60G>A (p.Val20=)
8g.60743091G>CCA461104088CHD7n.2172G>C
c.1659G>C (p.Val553=)
c.303G>C
c.60G>C (p.Val20=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60743091G=CA1788085663CHD7n.2172G=
c.1659G= (p.Val553=)
c.303G=
c.60G= (p.Val20=)
8g.60743091G>TCA461104087CHD7n.2172G>T
c.1659G>T (p.Val553=)
c.303G>T
c.60G>T (p.Val20=)
 gnomAD v4
8g.60743092C>ACA371303828CHD7n.2173C>A
c.1660C>A (p.His554Asn)
c.304C>A
c.61C>A (p.His21Asn)
8g.60743092C>GCA371303829CHD7n.2173C>G
c.1660C>G (p.His554Asp)
c.304C>G
c.61C>G (p.His21Asp)
8g.60743092C>TCA371303830CHD7n.2173C>T
c.1660C>T (p.His554Tyr)
c.304C>T
c.61C>T (p.His21Tyr)
8g.60743093A=CA1788085670CHD7n.2174A=
c.1661A= (p.His554=)
c.305A=
c.62A= (p.His21=)
8g.60743093A>CCA371303831CHD7n.2174A>C
c.1661A>C (p.His554Pro)
c.305A>C
c.62A>C (p.His21Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.60743093A>GCA371303832CHD7n.2174A>G
c.1661A>G (p.His554Arg)
c.305A>G
c.62A>G (p.His21Arg)
8g.60743093A>TCA371303833CHD7n.2174A>T
c.1661A>T (p.His554Leu)
c.305A>T
c.62A>T (p.His21Leu)
8g.60743094T>ACA371303834CHD7n.2175T>A
c.1662T>A (p.His554Gln)
c.306T>A
c.63T>A (p.His21Gln)
8g.60743094T>CCA461104090CHD7n.2175T>C
c.1662T>C (p.His554=)
c.306T>C
c.63T>C (p.His21=)
8g.60743094T>GCA371303835CHD7n.2175T>G
c.1662T>G (p.His554Gln)
c.306T>G
c.63T>G (p.His21Gln)
8g.60743095C>ACA4759528CHD7n.2176C>A
c.1663C>A (p.Gln555Lys)
c.307C>A
c.64C>A (p.Gln22Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60743095C=CA1788085678CHD7n.2176C=
c.1663C= (p.Gln555=)
c.307C=
c.64C= (p.Gln22=)
8g.60743095C>GCA371303837CHD7n.2176C>G
c.1663C>G (p.Gln555Glu)
c.307C>G
c.64C>G (p.Gln22Glu)
8g.60743095C>TCA371303836CHD7n.2176C>T
c.1663C>T (p.Gln555Ter)
c.307C>T
c.64C>T (p.Gln22Ter)
 ClinVar COSMIC
8g.60743096A>CCA371303840CHD7n.2177A>C
c.1664A>C (p.Gln555Pro)
c.308A>C
c.65A>C (p.Gln22Pro)
8g.60743096A>GCA371303838CHD7n.2177A>G
c.1664A>G (p.Gln555Arg)
c.308A>G
c.65A>G (p.Gln22Arg)
 gnomAD v4
8g.60743096A>TCA371303839CHD7n.2177A>T
c.1664A>T (p.Gln555Leu)
c.308A>T
c.65A>T (p.Gln22Leu)
8g.60743096_60743097insAGCA2695209585CHD7n.2177_2178insAG
c.1664_1665insAG (p.His556GlyfsTer9)
c.308_309insAG
c.65_66insAG (p.His23GlyfsTer9)
8g.60743097G>ACA461104094CHD7n.2178G>A
c.1665G>A (p.Gln555=)
c.309G>A
c.66G>A (p.Gln22=)
8g.60743097G>CCA371303841CHD7n.2178G>C
c.1665G>C (p.Gln555His)
c.309G>C
c.66G>C (p.Gln22His)
8g.60743097G>TCA371303842CHD7n.2178G>T
c.1665G>T (p.Gln555His)
c.309G>T
c.66G>T (p.Gln22His)
8g.60743098G>ACA371303843CHD7n.2178+1G>A
c.1665+1G>A (n.1665+1G>A)
c.309+1G>A
c.66+1G>A (n.66+1G>A)
8g.60743098G>CCA371303844CHD7n.2178+1G>C
c.1665+1G>C (n.1665+1G>C)
c.309+1G>C
c.66+1G>C (n.66+1G>C)
8g.60743098G>TCA371303845CHD7n.2178+1G>T
c.1665+1G>T (n.1665+1G>T)
c.309+1G>T
c.66+1G>T (n.66+1G>T)
8g.60743099T>ACA371303846CHD7n.2178+2T>A
c.1665+2T>A (n.1665+2T>A)
c.309+2T>A
c.66+2T>A (n.66+2T>A)
8g.60743099T>CCA371303847CHD7n.2178+2T>C
c.1665+2T>C (n.1665+2T>C)
c.309+2T>C
c.66+2T>C (n.66+2T>C)
8g.60743099T>GCA371303848CHD7n.2178+2T>G
c.1665+2T>G (n.1665+2T>G)
c.309+2T>G
c.66+2T>G (n.66+2T>G)
8g.60743101A>GCA2687395203CHD7n.2178+4A>G
c.1665+4A>G (n.1665+4A>G)
c.309+4A>G
c.66+4A>G (n.66+4A>G)
 gnomAD v4
8g.60743101A>TCA2687395204CHD7n.2178+4A>T
c.1665+4A>T (n.1665+4A>T)
c.309+4A>T
c.66+4A>T (n.66+4A>T)
 gnomAD v4
8g.60743102G>TCA2687395206CHD7n.2178+5G>T
c.1665+5G>T (n.1665+5G>T)
c.309+5G>T
c.66+5G>T (n.66+5G>T)
 gnomAD v4
8g.60743105delCA2687395205CHD7n.2178+8del
c.1665+8del (n.1665+8del)
c.309+8del
c.66+8del (n.66+8del)
 gnomAD v4
8g.60743103G>TCA2687395207CHD7n.2178+6G>T
c.1665+6G>T (n.1665+6G>T)
c.309+6G>T
c.66+6G>T (n.66+6G>T)
 gnomAD v4
8g.60743104G>ACA581967069CHD7n.2178+7G>A
c.1665+7G>A (n.1665+7G>A)
c.309+7G>A
c.66+7G>A (n.66+7G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.60743104G=CA1788085685CHD7n.2178+7G=
c.1665+7G= (n.1665+7G=)
c.309+7G=
c.66+7G= (n.66+7G=)
8g.60743104G>TCA2687395208CHD7n.2178+7G>T
c.1665+7G>T (n.1665+7G>T)
c.309+7G>T
c.66+7G>T (n.66+7G>T)
 gnomAD v4
8g.60743105G=CA1788085687CHD7n.2178+8G=
c.1665+8G= (n.1665+8G=)
c.309+8G=
c.66+8G= (n.66+8G=)
8g.60743105G>TCA177313709CHD7n.2178+8G>T
c.1665+8G>T (n.1665+8G>T)
c.309+8G>T
c.66+8G>T (n.66+8G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60743107C>ACA2687395210CHD7n.2178+10C>A
c.1665+10C>A (n.1665+10C>A)
c.309+10C>A
c.66+10C>A (n.66+10C>A)
 gnomAD v4
8g.60743107C=CA1788085692CHD7n.2178+10C=
c.1665+10C= (n.1665+10C=)
c.309+10C=
c.66+10C= (n.66+10C=)
8g.60743107C>GCA1788085694CHD7n.2178+10C>G
c.1665+10C>G (n.1665+10C>G)
c.309+10C>G
c.66+10C>G (n.66+10C>G)
 ClinVar dbSNP gnomAD v4
8g.60743107C>TCA2687395209CHD7n.2178+10C>T
c.1665+10C>T (n.1665+10C>T)
c.309+10C>T
c.66+10C>T (n.66+10C>T)
 gnomAD v4
8g.60743109C>ACA2687395211CHD7n.2178+12C>A
c.1665+12C>A (n.1665+12C>A)
c.309+12C>A
c.66+12C>A (n.66+12C>A)
 gnomAD v4
8g.60743109C=CA1788085695CHD7n.2178+12C=
c.1665+12C= (n.1665+12C=)
c.309+12C=
c.66+12C= (n.66+12C=)
8g.60743109C>TCA1788085697CHD7n.2178+12C>T
c.1665+12C>T (n.1665+12C>T)
c.309+12C>T
c.66+12C>T (n.66+12C>T)
 dbSNP
8g.60743110A>GCA2687395212CHD7n.2178+13A>G
c.1665+13A>G (n.1665+13A>G)
c.309+13A>G
c.66+13A>G (n.66+13A>G)
 gnomAD v4
8g.60743111G>CCA4759529CHD7n.2178+14G>C
c.1665+14G>C (n.1665+14G>C)
c.309+14G>C
c.66+14G>C (n.66+14G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60743111G=CA1788085700CHD7n.2178+14G=
c.1665+14G= (n.1665+14G=)
c.309+14G=
c.66+14G= (n.66+14G=)
8g.60743111G>TCA2687395213CHD7n.2178+14G>T
c.1665+14G>T (n.1665+14G>T)
c.309+14G>T
c.66+14G>T (n.66+14G>T)
 gnomAD v4
8g.60743113G>ACA2573143247CHD7n.2178+16G>A
c.1665+16G>A (n.1665+16G>A)
c.309+16G>A
c.66+16G>A (n.66+16G>A)
 ClinVar dbSNP
8g.60743113G>CCA2780519630CHD7n.2178+16G>C
c.1665+16G>C (n.1665+16G>C)
c.309+16G>C
c.66+16G>C (n.66+16G>C)
8g.60743114C>ACA2687395214CHD7n.2178+17C>A
c.1665+17C>A (n.1665+17C>A)
c.309+17C>A
c.66+17C>A (n.66+17C>A)
 gnomAD v4
8g.60743114C=CA1788085703CHD7n.2178+17C=
c.1665+17C= (n.1665+17C=)
c.309+17C=
c.66+17C= (n.66+17C=)
8g.60743114C>TCA4759530CHD7n.2178+17C>T
c.1665+17C>T (n.1665+17C>T)
c.309+17C>T
c.66+17C>T (n.66+17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60743115C>ACA2579173294CHD7n.2178+18C>A
c.1665+18C>A (n.1665+18C>A)
c.309+18C>A
c.66+18C>A (n.66+18C>A)
 gnomAD v4
8g.60743115C=CA1788085708CHD7n.2178+18C=
c.1665+18C= (n.1665+18C=)
c.309+18C=
c.66+18C= (n.66+18C=)
8g.60743115C>GCA853921157CHD7n.2178+18C>G
c.1665+18C>G (n.1665+18C>G)
c.309+18C>G
c.66+18C>G (n.66+18C>G)
 dbSNP
8g.60743116T>CCA1788085716CHD7n.2178+19T>C
c.1665+19T>C (n.1665+19T>C)
c.309+19T>C
c.66+19T>C (n.66+19T>C)
 dbSNP gnomAD v4
8g.60743116T=CA1788085713CHD7n.2178+19T=
c.1665+19T= (n.1665+19T=)
c.309+19T=
c.66+19T= (n.66+19T=)
8g.60743117A=CA1788085720CHD7n.2178+20A=
c.1665+20A= (n.1665+20A=)
c.309+20A=
c.66+20A= (n.66+20A=)
8g.60743117A>CCA4759531CHD7n.2178+20A>C
c.1665+20A>C (n.1665+20A>C)
c.309+20A>C
c.66+20A>C (n.66+20A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60743117A>GCA581967072CHD7n.2178+20A>G
c.1665+20A>G (n.1665+20A>G)
c.309+20A>G
c.66+20A>G (n.66+20A>G)
 dbSNP gnomAD v2 gnomAD v4
8g.60743118C>ACA2579173295CHD7n.2178+21C>A
c.1665+21C>A (n.1665+21C>A)
c.309+21C>A
c.66+21C>A (n.66+21C>A)
 gnomAD v4
8g.60743118C=CA1788085722CHD7n.2178+21C=
c.1665+21C= (n.1665+21C=)
c.309+21C=
c.66+21C= (n.66+21C=)
8g.60743118C>TCA581967074CHD7n.2178+21C>T
c.1665+21C>T (n.1665+21C>T)
c.309+21C>T
c.66+21C>T (n.66+21C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.60743119C>ACA2687395215CHD7n.2178+22C>A
c.1665+22C>A (n.1665+22C>A)
c.309+22C>A
c.66+22C>A (n.66+22C>A)
 gnomAD v4
8g.60743119C=CA1788085724CHD7n.2178+22C=
c.1665+22C= (n.1665+22C=)
c.309+22C=
c.66+22C= (n.66+22C=)
8g.60743119C>TCA4759532CHD7n.2178+22C>T
c.1665+22C>T (n.1665+22C>T)
c.309+22C>T
c.66+22C>T (n.66+22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60743120T>ACA2687395216CHD7n.2178+23T>A
c.1665+23T>A (n.1665+23T>A)
c.309+23T>A
c.66+23T>A (n.66+23T>A)
 gnomAD v4
8g.60743120T>CCA2687395217CHD7n.2178+23T>C
c.1665+23T>C (n.1665+23T>C)
c.309+23T>C
c.66+23T>C (n.66+23T>C)
 gnomAD v4
8g.60743121C>ACA2687395218CHD7n.2178+24C>A
c.1665+24C>A (n.1665+24C>A)
c.309+24C>A
c.66+24C>A (n.66+24C>A)
 gnomAD v4
8g.60743121C=CA1788085742CHD7n.2178+24C=
c.1665+24C= (n.1665+24C=)
c.309+24C=
c.66+24C= (n.66+24C=)
8g.60743121C>GCA2687395219CHD7n.2178+24C>G
c.1665+24C>G (n.1665+24C>G)
c.309+24C>G
c.66+24C>G (n.66+24C>G)
 gnomAD v4
8g.60743121C>TCA4759533CHD7n.2178+24C>T
c.1665+24C>T (n.1665+24C>T)
c.309+24C>T
c.66+24C>T (n.66+24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60743123G=CA1788085753CHD7n.2178+26G=
c.1665+26G= (n.1665+26G=)
c.309+26G=
c.66+26G= (n.66+26G=)
8g.60743123G>TCA4759534CHD7n.2178+26G>T
c.1665+26G>T (n.1665+26G>T)
c.309+26G>T
c.66+26G>T (n.66+26G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60743124C>ACA2687395221CHD7n.2178+27C>A
c.1665+27C>A (n.1665+27C>A)
c.309+27C>A
c.66+27C>A (n.66+27C>A)
 gnomAD v4
8g.60743124C=CA1788085762CHD7n.2178+27C=
c.1665+27C= (n.1665+27C=)
c.309+27C=
c.66+27C= (n.66+27C=)
8g.60743124C>TCA4759535CHD7n.2178+27C>T
c.1665+27C>T (n.1665+27C>T)
c.309+27C>T
c.66+27C>T (n.66+27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60743129_60743130insCATGTTGAATTTCACATTGCCA2687395220CHD7n.2178+32_2178+33insCATGTTGAATTTCACATTGC
c.1665+32_1665+33insCATGTTGAATTTCACATTGC (n.1665+32_1665+33insCATGTTGAATTTCACATTGC)
c.309+32_309+33insCATGTTGAATTTCACATTGC
c.66+32_66+33insCATGTTGAATTTCACATTGC (n.66+32_66+33insCATGTTGAATTTCACATTGC)
 gnomAD v4
8g.60743125A=CA1788085768CHD7n.2178+28A=
c.1665+28A= (n.1665+28A=)
c.309+28A=
c.66+28A= (n.66+28A=)
8g.60743125A>GCA1788085769CHD7n.2178+28A>G
c.1665+28A>G (n.1665+28A>G)
c.309+28A>G
c.66+28A>G (n.66+28A>G)
 dbSNP gnomAD v4
8g.60743126T>CCA4759536CHD7n.2178+29T>C
c.1665+29T>C (n.1665+29T>C)
c.309+29T>C
c.66+29T>C (n.66+29T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60743126T=CA1788085771CHD7n.2178+29T=
c.1665+29T= (n.1665+29T=)
c.309+29T=
c.66+29T= (n.66+29T=)
8g.60743129C>ACA2579173296CHD7n.2178+32C>A
c.1665+32C>A (n.1665+32C>A)
c.309+32C>A
c.66+32C>A (n.66+32C>A)
 gnomAD v4
8g.60743129C>TCA2687395222CHD7n.2178+32C>T
c.1665+32C>T (n.1665+32C>T)
c.309+32C>T
c.66+32C>T (n.66+32C>T)
 gnomAD v4
8g.60743130A>CCA2687395223CHD7n.2178+33A>C
c.1665+33A>C (n.1665+33A>C)
c.309+33A>C
c.66+33A>C (n.66+33A>C)
 gnomAD v4
8g.60743130A>GCA2687395224CHD7n.2178+33A>G
c.1665+33A>G (n.1665+33A>G)
c.309+33A>G
c.66+33A>G (n.66+33A>G)
 gnomAD v4
8g.60743130_60743131insATCA2687395226CHD7n.2178+33_2178+34insAT
c.1665+33_1665+34insAT (n.1665+33_1665+34insAT)
c.309+33_309+34insAT
c.66+33_66+34insAT (n.66+33_66+34insAT)
 gnomAD v4
8g.60743131G>ACA171773CHD7n.2178+34G>A
c.1665+34G>A (n.1665+34G>A)
c.309+34G>A
c.66+34G>A (n.66+34G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60743131G>CCA853921188CHD7n.2178+34G>C
c.1665+34G>C (n.1665+34G>C)
c.309+34G>C
c.66+34G>C (n.66+34G>C)
 dbSNP gnomAD v4
8g.60743131G=CA1788085778CHD7n.2178+34G=
c.1665+34G= (n.1665+34G=)
c.309+34G=
c.66+34G= (n.66+34G=)
8g.60743131G>TCA2580823413CHD7n.2178+34G>T
c.1665+34G>T (n.1665+34G>T)
c.309+34G>T
c.66+34G>T (n.66+34G>T)
 gnomAD v4
8g.60743134_60743135delCA2687395225CHD7n.2178+37_2178+38del
c.1665+37_1665+38del (n.1665+37_1665+38del)
c.309+37_309+38del
c.66+37_66+38del (n.66+37_66+38del)
 gnomAD v4
8g.60743132T>GCA2687395227CHD7n.2178+35T>G
c.1665+35T>G (n.1665+35T>G)
c.309+35T>G
c.66+35T>G (n.66+35T>G)
 gnomAD v4
8g.60743133G>ACA177313739CHD7n.2178+36G>A
c.1665+36G>A (n.1665+36G>A)
c.309+36G>A
c.66+36G>A (n.66+36G>A)
 dbSNP gnomAD v4
8g.60743133G=CA1788085788CHD7n.2178+36G=
c.1665+36G= (n.1665+36G=)
c.309+36G=
c.66+36G= (n.66+36G=)
8g.60743133_60743134insACA2687395228CHD7n.2178+36_2178+37insA
c.1665+36_1665+37insA (n.1665+36_1665+37insA)
c.309+36_309+37insA
c.66+36_66+37insA (n.66+36_66+37insA)
 gnomAD v4
8g.60743134T>ACA2687395230CHD7n.2178+37T>A
c.1665+37T>A (n.1665+37T>A)
c.309+37T>A
c.66+37T>A (n.66+37T>A)
 gnomAD v4
8g.60743134T>GCA581967075CHD7n.2178+37T>G
c.1665+37T>G (n.1665+37T>G)
c.309+37T>G
c.66+37T>G (n.66+37T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60743134T=CA1788085790CHD7n.2178+37T=
c.1665+37T= (n.1665+37T=)
c.309+37T=
c.66+37T= (n.66+37T=)
8g.60743134dupCA2687395229CHD7n.2178+37dup
c.1665+37dup (n.1665+37dup)
c.309+37dup
c.66+37dup (n.66+37dup)
 gnomAD v4
8g.60743135G>TCA2687395231CHD7n.2178+38G>T
c.1665+38G>T (n.1665+38G>T)
c.309+38G>T
c.66+38G>T (n.66+38G>T)
 gnomAD v4
8g.60743136A=CA1788085793CHD7n.2178+39A=
c.1665+39A= (n.1665+39A=)
c.309+39A=
c.66+39A= (n.66+39A=)
8g.60743136A>CCA4759537CHD7n.2178+39A>C
c.1665+39A>C (n.1665+39A>C)
c.309+39A>C
c.66+39A>C (n.66+39A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched