Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.21392760G>ACA7090763CHD8c.5681C>T (p.Ser1894Leu)
c.70C>T
c.4218C>T
c.6518C>T (p.Ser2173Leu)
n.5674C>T
c.29C>T (p.Ser10Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21392760G>CCA388878796CHD8c.5681C>G (p.Ser1894Ter)
c.70C>G
c.4218C>G
c.6518C>G (p.Ser2173Ter)
n.5674C>G
c.29C>G (p.Ser10Ter)
14g.21392760G=CA2122504954CHD8c.5681C= (p.Ser1894=)
c.70C=
c.4218C=
c.6518C= (p.Ser2173=)
n.5674C=
c.29C= (p.Ser10=)
14g.21392760G>TCA16043684CHD8c.5681C>A (p.Ser1894Ter)
c.70C>A
c.4218C>A
c.6518C>A (p.Ser2173Ter)
n.5674C>A
c.29C>A (p.Ser10Ter)
 ClinVar dbSNP
14g.21392761A>CCA388878799CHD8c.5680T>G (p.Ser1894Ala)
c.69T>G
c.4217T>G
c.6517T>G (p.Ser2173Ala)
n.5673T>G
c.28T>G (p.Ser10Ala)
14g.21392761A>GCA388878801CHD8c.5680T>C (p.Ser1894Pro)
c.69T>C
c.4217T>C
c.6517T>C (p.Ser2173Pro)
n.5673T>C
c.28T>C (p.Ser10Pro)
14g.21392761A>TCA388878803CHD8c.5680T>A (p.Ser1894Thr)
c.69T>A
c.4217T>A
c.6517T>A (p.Ser2173Thr)
n.5673T>A
c.28T>A (p.Ser10Thr)
14g.21392762G>ACA484994578CHD8c.5679C>T (p.Leu1893=)
c.68C>T
c.4216C>T
c.6516C>T (p.Leu2172=)
n.5672C>T
c.27C>T (p.Leu9=)
 COSMIC COSMIC
14g.21392762G>CCA484994581CHD8c.5679C>G (p.Leu1893=)
c.68C>G
c.4216C>G
c.6516C>G (p.Leu2172=)
n.5672C>G
c.27C>G (p.Leu9=)
14g.21392762G>TCA484994579CHD8c.5679C>A (p.Leu1893=)
c.68C>A
c.4216C>A
c.6516C>A (p.Leu2172=)
n.5672C>A
c.27C>A (p.Leu9=)
14g.21392763A>CCA388878808CHD8c.5678T>G (p.Leu1893Arg)
c.67T>G
c.4215T>G
c.6515T>G (p.Leu2172Arg)
n.5671T>G
c.26T>G (p.Leu9Arg)
14g.21392763A>GCA388878807CHD8c.5678T>C (p.Leu1893Pro)
c.67T>C
c.4215T>C
c.6515T>C (p.Leu2172Pro)
n.5671T>C
c.26T>C (p.Leu9Pro)
14g.21392763A>TCA388878805CHD8c.5678T>A (p.Leu1893His)
c.67T>A
c.4215T>A
c.6515T>A (p.Leu2172His)
n.5671T>A
c.26T>A (p.Leu9His)
14g.21392764G>ACA388878811CHD8c.5677C>T (p.Leu1893Phe)
c.66C>T
c.4214C>T
c.6514C>T (p.Leu2172Phe)
n.5670C>T
c.25C>T (p.Leu9Phe)
14g.21392764G>CCA388878812CHD8c.5677C>G (p.Leu1893Val)
c.66C>G
c.4214C>G
c.6514C>G (p.Leu2172Val)
n.5670C>G
c.25C>G (p.Leu9Val)
14g.21392764G>TCA388878813CHD8c.5677C>A (p.Leu1893Ile)
c.66C>A
c.4214C>A
c.6514C>A (p.Leu2172Ile)
n.5670C>A
c.25C>A (p.Leu9Ile)
14g.21392765T>ACA484994588CHD8c.5676A>T (p.Val1892=)
c.65A>T
c.4213A>T
c.6513A>T (p.Val2171=)
n.5669A>T
c.24A>T (p.Val8=)
 gnomAD v4
14g.21392765T>CCA7090764CHD8c.5676A>G (p.Val1892=)
c.65A>G
c.4213A>G
c.6513A>G (p.Val2171=)
n.5669A>G
c.24A>G (p.Val8=)
 ClinVar dbSNP ExAC gnomAD v2
14g.21392765T>GCA484994587CHD8c.5676A>C (p.Val1892=)
c.65A>C
c.4213A>C
c.6513A>C (p.Val2171=)
n.5669A>C
c.24A>C (p.Val8=)
 dbSNP gnomAD v4
14g.21392765T=CA2122504958CHD8c.5676A= (p.Val1892=)
c.65A=
c.4213A=
c.6513A= (p.Val2171=)
n.5669A=
c.24A= (p.Val8=)
14g.21392766A>CCA388878817CHD8c.5675T>G (p.Val1892Gly)
c.64T>G
c.4212T>G
c.6512T>G (p.Val2171Gly)
n.5668T>G
c.23T>G (p.Val8Gly)
14g.21392766A>GCA388878818CHD8c.5675T>C (p.Val1892Ala)
c.64T>C
c.4212T>C
c.6512T>C (p.Val2171Ala)
n.5668T>C
c.23T>C (p.Val8Ala)
14g.21392766A>TCA388878820CHD8c.5675T>A (p.Val1892Glu)
c.64T>A
c.4212T>A
c.6512T>A (p.Val2171Glu)
n.5668T>A
c.23T>A (p.Val8Glu)
14g.21392767C>ACA388878822CHD8c.5674G>T (p.Val1892Leu)
c.63G>T
c.4211G>T
c.6511G>T (p.Val2171Leu)
n.5667G>T
c.22G>T (p.Val8Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.21392767C=CA2122504960CHD8c.5674G= (p.Val1892=)
c.63G=
c.4211G=
c.6511G= (p.Val2171=)
n.5667G=
c.22G= (p.Val8=)
14g.21392767C>GCA388878823CHD8c.5674G>C (p.Val1892Leu)
c.63G>C
c.4211G>C
c.6511G>C (p.Val2171Leu)
n.5667G>C
c.22G>C (p.Val8Leu)
14g.21392767C>TCA388878824CHD8c.5674G>A (p.Val1892Ile)
c.63G>A
c.4211G>A
c.6511G>A (p.Val2171Ile)
n.5667G>A
c.22G>A (p.Val8Ile)
 gnomAD v4
14g.21392768A>CCA484994597CHD8c.5673T>G (p.Ala1891=)
c.62T>G
c.4210T>G
c.6510T>G (p.Ala2170=)
n.5666T>G
c.21T>G (p.Ala7=)
14g.21392768A>GCA484994598CHD8c.5673T>C (p.Ala1891=)
c.62T>C
c.4210T>C
c.6510T>C (p.Ala2170=)
n.5666T>C
c.21T>C (p.Ala7=)
14g.21392768A>TCA484994599CHD8c.5673T>A (p.Ala1891=)
c.62T>A
c.4210T>A
c.6510T>A (p.Ala2170=)
n.5666T>A
c.21T>A (p.Ala7=)
14g.21392769G>ACA388878827CHD8c.5672C>T (p.Ala1891Val)
c.61C>T
c.4209C>T
c.6509C>T (p.Ala2170Val)
n.5665C>T
c.20C>T (p.Ala7Val)
14g.21392769G>CCA388878829CHD8c.5672C>G (p.Ala1891Gly)
c.61C>G
c.4209C>G
c.6509C>G (p.Ala2170Gly)
n.5665C>G
c.20C>G (p.Ala7Gly)
14g.21392769G>TCA388878831CHD8c.5672C>A (p.Ala1891Asp)
c.61C>A
c.4209C>A
c.6509C>A (p.Ala2170Asp)
n.5665C>A
c.20C>A (p.Ala7Asp)
14g.21392770C>ACA388878836CHD8c.5671G>T (p.Ala1891Ser)
c.60G>T
c.4208G>T
c.6508G>T (p.Ala2170Ser)
n.5664G>T
c.19G>T (p.Ala7Ser)
14g.21392770C>GCA388878834CHD8c.5671G>C (p.Ala1891Pro)
c.60G>C
c.4208G>C
c.6508G>C (p.Ala2170Pro)
n.5664G>C
c.19G>C (p.Ala7Pro)
14g.21392770C>TCA388878833CHD8c.5671G>A (p.Ala1891Thr)
c.60G>A
c.4208G>A
c.6508G>A (p.Ala2170Thr)
n.5664G>A
c.19G>A (p.Ala7Thr)
14g.21392771C>ACA388878840CHD8c.5670G>T (p.Gln1890His)
c.59G>T
c.4207G>T
c.6507G>T (p.Gln2169His)
n.5663G>T
c.18G>T (p.Gln6His)
14g.21392771C=CA2122504968CHD8c.5670G= (p.Gln1890=)
c.59G=
c.4207G=
c.6507G= (p.Gln2169=)
n.5663G=
c.18G= (p.Gln6=)
14g.21392771C>GCA388878838CHD8c.5670G>C (p.Gln1890His)
c.59G>C
c.4207G>C
c.6507G>C (p.Gln2169His)
n.5663G>C
c.18G>C (p.Gln6His)
14g.21392771C>TCA257592268CHD8c.5670G>A (p.Gln1890=)
c.59G>A
c.4207G>A
c.6507G>A (p.Gln2169=)
n.5663G>A
c.18G>A (p.Gln6=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21392772T>ACA388878842CHD8c.5669A>T (p.Gln1890Leu)
c.58A>T
c.4206A>T
c.6506A>T (p.Gln2169Leu)
n.5662A>T
c.17A>T (p.Gln6Leu)
14g.21392772T>CCA388878844CHD8c.5669A>G (p.Gln1890Arg)
c.58A>G
c.4206A>G
c.6506A>G (p.Gln2169Arg)
n.5662A>G
c.17A>G (p.Gln6Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.21392772T>GCA388878846CHD8c.5669A>C (p.Gln1890Pro)
c.58A>C
c.4206A>C
c.6506A>C (p.Gln2169Pro)
n.5662A>C
c.17A>C (p.Gln6Pro)
14g.21392772T=CA2122504971CHD8c.5669A= (p.Gln1890=)
c.58A=
c.4206A=
c.6506A= (p.Gln2169=)
n.5662A=
c.17A= (p.Gln6=)
14g.21392773G>ACA388878847CHD8c.5668C>T (p.Gln1890Ter)
c.57C>T
c.4205C>T
c.6505C>T (p.Gln2169Ter)
n.5661C>T
c.16C>T (p.Gln6Ter)
 dbSNP
14g.21392773G>CCA388878849CHD8c.5668C>G (p.Gln1890Glu)
c.57C>G
c.4205C>G
c.6505C>G (p.Gln2169Glu)
n.5661C>G
c.16C>G (p.Gln6Glu)
14g.21392773G=CA2122504974CHD8c.5668C= (p.Gln1890=)
c.57C=
c.4205C=
c.6505C= (p.Gln2169=)
n.5661C=
c.16C= (p.Gln6=)
14g.21392773G>TCA388878851CHD8c.5668C>A (p.Gln1890Lys)
c.57C>A
c.4205C>A
c.6505C>A (p.Gln2169Lys)
n.5661C>A
c.16C>A (p.Gln6Lys)
14g.21392774G>ACA484994607CHD8c.5667C>T (p.Cys1889=)
c.56C>T
c.4204C>T
c.6504C>T (p.Cys2168=)
n.5660C>T
c.15C>T (p.Cys5=)
 gnomAD v4
14g.21392774G>CCA388878853CHD8c.5667C>G (p.Cys1889Trp)
c.56C>G
c.4204C>G
c.6504C>G (p.Cys2168Trp)
n.5660C>G
c.15C>G (p.Cys5Trp)
14g.21392774G=CA2122504977CHD8c.5667C= (p.Cys1889=)
c.56C=
c.4204C=
c.6504C= (p.Cys2168=)
n.5660C=
c.15C= (p.Cys5=)
14g.21392774G>TCA388878854CHD8c.5667C>A (p.Cys1889Ter)
c.56C>A
c.4204C>A
c.6504C>A (p.Cys2168Ter)
n.5660C>A
c.15C>A (p.Cys5Ter)
 dbSNP
14g.21392775C>ACA388878857CHD8c.5666G>T (p.Cys1889Phe)
c.55G>T
c.4203G>T
c.6503G>T (p.Cys2168Phe)
n.5659G>T
c.14G>T (p.Cys5Phe)
14g.21392775C>GCA388878858CHD8c.5666G>C (p.Cys1889Ser)
c.55G>C
c.4203G>C
c.6503G>C (p.Cys2168Ser)
n.5659G>C
c.14G>C (p.Cys5Ser)
14g.21392775C>TCA388878860CHD8c.5666G>A (p.Cys1889Tyr)
c.55G>A
c.4203G>A
c.6503G>A (p.Cys2168Tyr)
n.5659G>A
c.14G>A (p.Cys5Tyr)
14g.21392776A>CCA388878864CHD8c.5665T>G (p.Cys1889Gly)
c.54T>G
c.4202T>G
c.6502T>G (p.Cys2168Gly)
n.5658T>G
c.13T>G (p.Cys5Gly)
14g.21392776A>GCA388878866CHD8c.5665T>C (p.Cys1889Arg)
c.54T>C
c.4202T>C
c.6502T>C (p.Cys2168Arg)
n.5658T>C
c.13T>C (p.Cys5Arg)
14g.21392776A>TCA388878862CHD8c.5665T>A (p.Cys1889Ser)
c.54T>A
c.4202T>A
c.6502T>A (p.Cys2168Ser)
n.5658T>A
c.13T>A (p.Cys5Ser)
14g.21392777G>ACA484994613CHD8c.5664C>T (p.Val1888=)
c.53C>T
c.4201C>T
c.6501C>T (p.Val2167=)
n.5657C>T
c.12C>T (p.Val4=)
 dbSNP gnomAD v2 gnomAD v4
14g.21392777G>CCA484994614CHD8c.5664C>G (p.Val1888=)
c.53C>G
c.4201C>G
c.6501C>G (p.Val2167=)
n.5657C>G
c.12C>G (p.Val4=)
14g.21392777G=CA2122504982CHD8c.5664C= (p.Val1888=)
c.53C=
c.4201C=
c.6501C= (p.Val2167=)
n.5657C=
c.12C= (p.Val4=)
14g.21392777G>TCA484994615CHD8c.5664C>A (p.Val1888=)
c.53C>A
c.4201C>A
c.6501C>A (p.Val2167=)
n.5657C>A
c.12C>A (p.Val4=)
14g.21392778A>CCA388878868CHD8c.5663T>G (p.Val1888Gly)
c.52T>G
c.4200T>G
c.6500T>G (p.Val2167Gly)
n.5656T>G
c.11T>G (p.Val4Gly)
14g.21392778A>GCA388878870CHD8c.5663T>C (p.Val1888Ala)
c.52T>C
c.4200T>C
c.6500T>C (p.Val2167Ala)
n.5656T>C
c.11T>C (p.Val4Ala)
14g.21392778A>TCA388878871CHD8c.5663T>A (p.Val1888Asp)
c.52T>A
c.4200T>A
c.6500T>A (p.Val2167Asp)
n.5656T>A
c.11T>A (p.Val4Asp)
14g.21392779C>ACA388878874CHD8c.5662G>T (p.Val1888Phe)
c.51G>T
c.4199G>T
c.6499G>T (p.Val2167Phe)
n.5655G>T
c.10G>T (p.Val4Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21392779C=CA2122504987CHD8c.5662G= (p.Val1888=)
c.51G=
c.4199G=
c.6499G= (p.Val2167=)
n.5655G=
c.10G= (p.Val4=)
14g.21392779C>GCA388878876CHD8c.5662G>C (p.Val1888Leu)
c.51G>C
c.4199G>C
c.6499G>C (p.Val2167Leu)
n.5655G>C
c.10G>C (p.Val4Leu)
14g.21392779C>TCA7090765CHD8c.5662G>A (p.Val1888Ile)
c.51G>A
c.4199G>A
c.6499G>A (p.Val2167Ile)
n.5655G>A
c.10G>A (p.Val4Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.21392780G>ACA257592305CHD8c.5661C>T (p.Leu1887=)
c.50C>T
c.4198C>T
c.6498C>T (p.Leu2166=)
n.5654C>T
c.9C>T (p.Leu3=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.21392780G>CCA484994619CHD8c.5661C>G (p.Leu1887=)
c.50C>G
c.4198C>G
c.6498C>G (p.Leu2166=)
n.5654C>G
c.9C>G (p.Leu3=)
14g.21392780G=CA2122504992CHD8c.5661C= (p.Leu1887=)
c.50C=
c.4198C=
c.6498C= (p.Leu2166=)
n.5654C=
c.9C= (p.Leu3=)
14g.21392780G>TCA484994620CHD8c.5661C>A (p.Leu1887=)
c.50C>A
c.4198C>A
c.6498C>A (p.Leu2166=)
n.5654C>A
c.9C>A (p.Leu3=)
 dbSNP
14g.21392781A>CCA388878879CHD8c.5660T>G (p.Leu1887Arg)
c.49T>G
c.4197T>G
c.6497T>G (p.Leu2166Arg)
n.5653T>G
c.8T>G (p.Leu3Arg)
14g.21392781A>GCA388878881CHD8c.5660T>C (p.Leu1887Pro)
c.49T>C
c.4197T>C
c.6497T>C (p.Leu2166Pro)
n.5653T>C
c.8T>C (p.Leu3Pro)
14g.21392781A>TCA388878880CHD8c.5660T>A (p.Leu1887His)
c.49T>A
c.4197T>A
c.6497T>A (p.Leu2166His)
n.5653T>A
c.8T>A (p.Leu3His)
14g.21392782G>ACA388878884CHD8c.5659C>T (p.Leu1887Phe)
c.48C>T
c.4196C>T
c.6496C>T (p.Leu2166Phe)
n.5652C>T
c.7C>T (p.Leu3Phe)
 ClinVar dbSNP gnomAD v4
14g.21392782G>CCA388878886CHD8c.5659C>G (p.Leu1887Val)
c.48C>G
c.4196C>G
c.6496C>G (p.Leu2166Val)
n.5652C>G
c.7C>G (p.Leu3Val)
 gnomAD v4
14g.21392782G=CA2122504999CHD8c.5659C= (p.Leu1887=)
c.48C=
c.4196C=
c.6496C= (p.Leu2166=)
n.5652C=
c.7C= (p.Leu3=)
14g.21392782G>TCA7090766CHD8c.5659C>A (p.Leu1887Ile)
c.48C>A
c.4196C>A
c.6496C>A (p.Leu2166Ile)
n.5652C>A
c.7C>A (p.Leu3Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.21392783G>ACA484994623CHD8c.5658C>T (p.Asp1886=)
c.47C>T
c.4195C>T
c.6495C>T (p.Asp2165=)
n.5651C>T
c.6C>T (p.Asp2=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21392783G>CCA388878888CHD8c.5658C>G (p.Asp1886Glu)
c.47C>G
c.4195C>G
c.6495C>G (p.Asp2165Glu)
n.5651C>G
c.6C>G (p.Asp2Glu)
14g.21392783G=CA2122505003CHD8c.5658C= (p.Asp1886=)
c.47C=
c.4195C=
c.6495C= (p.Asp2165=)
n.5651C=
c.6C= (p.Asp2=)
14g.21392783G>TCA388878890CHD8c.5658C>A (p.Asp1886Glu)
c.47C>A
c.4195C>A
c.6495C>A (p.Asp2165Glu)
n.5651C>A
c.6C>A (p.Asp2Glu)
 gnomAD v4
14g.21392784T>ACA388878893CHD8c.5657A>T (p.Asp1886Val)
c.46A>T
c.4194A>T
c.6494A>T (p.Asp2165Val)
n.5650A>T
c.5A>T (p.Asp2Val)
14g.21392784T>CCA388878895CHD8c.5657A>G (p.Asp1886Gly)
c.46A>G
c.4194A>G
c.6494A>G (p.Asp2165Gly)
n.5650A>G
c.5A>G (p.Asp2Gly)
14g.21392784T>GCA388878892CHD8c.5657A>C (p.Asp1886Ala)
c.46A>C
c.4194A>C
c.6494A>C (p.Asp2165Ala)
n.5650A>C
c.5A>C (p.Asp2Ala)
 dbSNP
14g.21392784T=CA2122505006CHD8c.5657A= (p.Asp1886=)
c.46A=
c.4194A=
c.6494A= (p.Asp2165=)
n.5650A=
c.5A= (p.Asp2=)
14g.21392785C>ACA388878898CHD8c.5656G>T (p.Asp1886Tyr)
c.45G>T
c.4193G>T
c.6493G>T (p.Asp2165Tyr)
n.5649G>T
c.4G>T (p.Asp2Tyr)
 ClinVar gnomAD v4
14g.21392785C>GCA388878900CHD8c.5656G>C (p.Asp1886His)
c.45G>C
c.4193G>C
c.6493G>C (p.Asp2165His)
n.5649G>C
c.4G>C (p.Asp2His)
14g.21392785C>TCA388878899CHD8c.5656G>A (p.Asp1886Asn)
c.45G>A
c.4193G>A
c.6493G>A (p.Asp2165Asn)
n.5649G>A
c.4G>A (p.Asp2Asn)
14g.21392786A>CCA388878903CHD8c.5655T>G (p.Ile1885Met)
c.44T>G
c.4192T>G
c.6492T>G (p.Ile2164Met)
n.5648T>G
c.3T>G (p.Ile1Met)
14g.21392786A>GCA484994633CHD8c.5655T>C (p.Ile1885=)
c.44T>C
c.4192T>C
c.6492T>C (p.Ile2164=)
n.5648T>C
c.3T>C (p.Ile1=)
14g.21392786A>TCA484994632CHD8c.5655T>A (p.Ile1885=)
c.44T>A
c.4192T>A
c.6492T>A (p.Ile2164=)
n.5648T>A
c.3T>A (p.Ile1=)
14g.21392787A>CCA388878905CHD8c.5654T>G (p.Ile1885Ser)
c.43T>G
c.4191T>G
c.6491T>G (p.Ile2164Ser)
n.5647T>G
c.2T>G (p.Ile1Ser)
14g.21392787A>GCA388878906CHD8c.5654T>C (p.Ile1885Thr)
c.43T>C
c.4191T>C
c.6491T>C (p.Ile2164Thr)
n.5647T>C
c.2T>C (p.Ile1Thr)
 gnomAD v4
14g.21392787A>TCA388878907CHD8c.5654T>A (p.Ile1885Asn)
c.43T>A
c.4191T>A
c.6491T>A (p.Ile2164Asn)
n.5647T>A
c.2T>A (p.Ile1Asn)
14g.21392788T>ACA388878909CHD8c.5653A>T (p.Ile1885Phe)
c.42A>T
c.4190A>T
c.6490A>T (p.Ile2164Phe)
n.5646A>T
c.1A>T (p.Ile1Phe)
14g.21392788T>CCA388878911CHD8c.5653A>G (p.Ile1885Val)
c.42A>G
c.4190A>G
c.6490A>G (p.Ile2164Val)
n.5646A>G
c.1A>G (p.Ile1Val)
14g.21392788T>GCA388878912CHD8c.5653A>C (p.Ile1885Leu)
c.42A>C
c.4190A>C
c.6490A>C (p.Ile2164Leu)
n.5646A>C
c.1A>C (p.Ile1Leu)
14g.21392789A>CCA484994639CHD8c.5652T>G (p.Arg1884=)
c.41T>G
c.4189T>G
c.6489T>G (p.Arg2163=)
n.5645T>G
14g.21392789A>GCA484994635CHD8c.5652T>C (p.Arg1884=)
c.41T>C
c.4189T>C
c.6489T>C (p.Arg2163=)
n.5645T>C
 dbSNP
14g.21392789A>TCA484994637CHD8c.5652T>A (p.Arg1884=)
c.41T>A
c.4189T>A
c.6489T>A (p.Arg2163=)
n.5645T>A
14g.21392790C>ACA388878914CHD8c.5651G>T (p.Arg1884Leu)
c.40G>T
c.4188G>T
c.6488G>T (p.Arg2163Leu)
n.5644G>T
14g.21392790C>GCA388878915CHD8c.5651G>C (p.Arg1884Pro)
c.40G>C
c.4188G>C
c.6488G>C (p.Arg2163Pro)
n.5644G>C
14g.21392790C>TCA388878916CHD8c.5651G>A (p.Arg1884His)
c.40G>A
c.4188G>A
c.6488G>A (p.Arg2163His)
n.5644G>A
 gnomAD v4
14g.21392791G>ACA388878921CHD8c.5650C>T (p.Arg1884Cys)
c.39C>T
c.4187C>T
c.6487C>T (p.Arg2163Cys)
n.5643C>T
 gnomAD v4
14g.21392791G>CCA388878920CHD8c.5650C>G (p.Arg1884Gly)
c.39C>G
c.4187C>G
c.6487C>G (p.Arg2163Gly)
n.5643C>G
14g.21392791G>TCA388878918CHD8c.5650C>A (p.Arg1884Ser)
c.39C>A
c.4187C>A
c.6487C>A (p.Arg2163Ser)
n.5643C>A
14g.21392792G>ACA484994641CHD8c.5649C>T (p.Asn1883=)
c.38C>T
c.4186C>T
c.6486C>T (p.Asn2162=)
n.5642C>T
 COSMIC COSMIC
14g.21392792G>CCA388878923CHD8c.5649C>G (p.Asn1883Lys)
c.38C>G
c.4186C>G
c.6486C>G (p.Asn2162Lys)
n.5642C>G
14g.21392792G>TCA388878925CHD8c.5649C>A (p.Asn1883Lys)
c.38C>A
c.4186C>A
c.6486C>A (p.Asn2162Lys)
n.5642C>A
14g.21392793T>ACA388878926CHD8c.5648A>T (p.Asn1883Ile)
c.37A>T
c.4185A>T
c.6485A>T (p.Asn2162Ile)
n.5641A>T
14g.21392793T>CCA388878927CHD8c.5648A>G (p.Asn1883Ser)
c.37A>G
c.4185A>G
c.6485A>G (p.Asn2162Ser)
n.5641A>G
14g.21392793T>GCA388878929CHD8c.5648A>C (p.Asn1883Thr)
c.37A>C
c.4185A>C
c.6485A>C (p.Asn2162Thr)
n.5641A>C
14g.21392794T>ACA388878931CHD8c.5647A>T (p.Asn1883Tyr)
c.36A>T
c.4184A>T
c.6484A>T (p.Asn2162Tyr)
n.5640A>T
14g.21392794T>CCA388878932CHD8c.5647A>G (p.Asn1883Asp)
c.36A>G
c.4184A>G
c.6484A>G (p.Asn2162Asp)
n.5640A>G
14g.21392794T>GCA388878934CHD8c.5647A>C (p.Asn1883His)
c.36A>C
c.4184A>C
c.6484A>C (p.Asn2162His)
n.5640A>C
14g.21392795T>ACA484994385CHD8c.5646A>T (p.Ile1882=)
c.35A>T
c.4183A>T
c.6483A>T (p.Ile2161=)
n.5639A>T
14g.21392795T>CCA388878936CHD8c.5646A>G (p.Ile1882Met)
c.35A>G
c.4183A>G
c.6483A>G (p.Ile2161Met)
n.5639A>G
 gnomAD v4
14g.21392795T>GCA484994387CHD8c.5646A>C (p.Ile1882=)
c.35A>C
c.4183A>C
c.6483A>C (p.Ile2161=)
n.5639A>C
14g.21392796A>CCA388878938CHD8c.5645T>G (p.Ile1882Arg)
c.34T>G
c.4182T>G
c.6482T>G (p.Ile2161Arg)
n.5638T>G
14g.21392796A>GCA388878939CHD8c.5645T>C (p.Ile1882Thr)
c.34T>C
c.4182T>C
c.6482T>C (p.Ile2161Thr)
n.5638T>C
14g.21392796A>TCA388878941CHD8c.5645T>A (p.Ile1882Lys)
c.34T>A
c.4182T>A
c.6482T>A (p.Ile2161Lys)
n.5638T>A
14g.21392797T>ACA388878945CHD8c.5644A>T (p.Ile1882Leu)
c.33A>T
c.4181A>T
c.6481A>T (p.Ile2161Leu)
n.5637A>T
14g.21392797T>CCA388878947CHD8c.5644A>G (p.Ile1882Val)
c.33A>G
c.4181A>G
c.6481A>G (p.Ile2161Val)
n.5637A>G
14g.21392797T>GCA388878943CHD8c.5644A>C (p.Ile1882Leu)
c.33A>C
c.4181A>C
c.6481A>C (p.Ile2161Leu)
n.5637A>C
14g.21392798C>ACA484994390CHD8c.5643G>T (p.Leu1881=)
c.32G>T
c.4180G>T
c.6480G>T (p.Leu2160=)
n.5636G>T
14g.21392798C=CA2122505009CHD8c.5643G= (p.Leu1881=)
c.32G=
c.4180G=
c.6480G= (p.Leu2160=)
n.5636G=
14g.21392798C>GCA484994391CHD8c.5643G>C (p.Leu1881=)
c.32G>C
c.4180G>C
c.6480G>C (p.Leu2160=)
n.5636G>C
14g.21392798C>TCA484994392CHD8c.5643G>A (p.Leu1881=)
c.32G>A
c.4180G>A
c.6480G>A (p.Leu2160=)
n.5636G>A
 dbSNP
14g.21392799A>CCA388878949CHD8c.5642T>G (p.Leu1881Arg)
c.31T>G
c.4179T>G
c.6479T>G (p.Leu2160Arg)
n.5635T>G
14g.21392799A>GCA388878950CHD8c.5642T>C (p.Leu1881Pro)
c.31T>C
c.4179T>C
c.6479T>C (p.Leu2160Pro)
n.5635T>C
14g.21392799A>TCA388878952CHD8c.5642T>A (p.Leu1881Gln)
c.31T>A
c.4179T>A
c.6479T>A (p.Leu2160Gln)
n.5635T>A
14g.21392800G>ACA484994396CHD8c.5641C>T (p.Leu1881=)
c.30C>T
c.4178C>T
c.6478C>T (p.Leu2160=)
n.5634C>T
14g.21392800G>CCA388878953CHD8c.5641C>G (p.Leu1881Val)
c.30C>G
c.4178C>G
c.6478C>G (p.Leu2160Val)
n.5634C>G
14g.21392800G>TCA388878955CHD8c.5641C>A (p.Leu1881Met)
c.30C>A
c.4178C>A
c.6478C>A (p.Leu2160Met)
n.5634C>A
 gnomAD v4
14g.21392801G>ACA484994399CHD8c.5640C>T (p.Val1880=)
c.29C>T
c.4177C>T
c.6477C>T (p.Val2159=)
n.5633C>T
14g.21392801G>CCA484994397CHD8c.5640C>G (p.Val1880=)
c.29C>G
c.4177C>G
c.6477C>G (p.Val2159=)
n.5633C>G
14g.21392801G>TCA484994398CHD8c.5640C>A (p.Val1880=)
c.29C>A
c.4177C>A
c.6477C>A (p.Val2159=)
n.5633C>A
14g.21392802A>CCA388878960CHD8c.5639T>G (p.Val1880Gly)
c.28T>G
c.4176T>G
c.6476T>G (p.Val2159Gly)
n.5632T>G
14g.21392802A>GCA388878959CHD8c.5639T>C (p.Val1880Ala)
c.28T>C
c.4176T>C
c.6476T>C (p.Val2159Ala)
n.5632T>C
14g.21392802A>TCA388878957CHD8c.5639T>A (p.Val1880Asp)
c.28T>A
c.4176T>A
c.6476T>A (p.Val2159Asp)
n.5632T>A
14g.21392803C>ACA388878961CHD8c.5638G>T (p.Val1880Phe)
c.27G>T
c.4175G>T
c.6475G>T (p.Val2159Phe)
n.5631G>T
14g.21392803C>GCA388878962CHD8c.5638G>C (p.Val1880Leu)
c.27G>C
c.4175G>C
c.6475G>C (p.Val2159Leu)
n.5631G>C
14g.21392803C>TCA388878963CHD8c.5638G>A (p.Val1880Ile)
c.27G>A
c.4175G>A
c.6475G>A (p.Val2159Ile)
n.5631G>A
14g.21392804A>CCA484994401CHD8c.5637T>G (p.Arg1879=)
c.26T>G
c.4174T>G
c.6474T>G (p.Arg2158=)
n.5630T>G
14g.21392804A>GCA484994402CHD8c.5637T>C (p.Arg1879=)
c.26T>C
c.4174T>C
c.6474T>C (p.Arg2158=)
n.5630T>C
 gnomAD v4
14g.21392804A>TCA484994403CHD8c.5637T>A (p.Arg1879=)
c.26T>A
c.4174T>A
c.6474T>A (p.Arg2158=)
n.5630T>A
14g.21392805C>ACA388878964CHD8c.5636G>T (p.Arg1879Leu)
c.25G>T
c.4173G>T
c.6473G>T (p.Arg2158Leu)
n.5629G>T
14g.21392805C=CA2122505011CHD8c.5636G= (p.Arg1879=)
c.25G=
c.4173G=
c.6473G= (p.Arg2158=)
n.5629G=
14g.21392805C>GCA388878965CHD8c.5636G>C (p.Arg1879Pro)
c.25G>C
c.4173G>C
c.6473G>C (p.Arg2158Pro)
n.5629G>C
 dbSNP gnomAD v2 gnomAD v4
14g.21392805C>TCA7090767CHD8c.5636G>A (p.Arg1879His)
c.25G>A
c.4173G>A
c.6473G>A (p.Arg2158His)
n.5629G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21392806G>ACA7090768CHD8c.5635C>T (p.Arg1879Cys)
c.24C>T
c.4172C>T
c.6472C>T (p.Arg2158Cys)
n.5628C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.21392806G>CCA257592332CHD8c.5635C>G (p.Arg1879Gly)
c.24C>G
c.4172C>G
c.6472C>G (p.Arg2158Gly)
n.5628C>G
 dbSNP gnomAD v4
14g.21392806G=CA2122505016CHD8c.5635C= (p.Arg1879=)
c.24C=
c.4172C=
c.6472C= (p.Arg2158=)
n.5628C=
14g.21392806G>TCA388878966CHD8c.5635C>A (p.Arg1879Ser)
c.24C>A
c.4172C>A
c.6472C>A (p.Arg2158Ser)
n.5628C>A
 gnomAD v4
14g.21392807A>CCA388878967CHD8c.5634T>G (p.Asp1878Glu)
c.23T>G
c.4171T>G
c.6471T>G (p.Asp2157Glu)
n.5627T>G
14g.21392807A>GCA484994407CHD8c.5634T>C (p.Asp1878=)
c.23T>C
c.4171T>C
c.6471T>C (p.Asp2157=)
n.5627T>C
 gnomAD v4
14g.21392807A>TCA388878968CHD8c.5634T>A (p.Asp1878Glu)
c.23T>A
c.4171T>A
c.6471T>A (p.Asp2157Glu)
n.5627T>A
14g.21392808T>ACA388878969CHD8c.5633A>T (p.Asp1878Val)
c.22A>T
c.4170A>T
c.6470A>T (p.Asp2157Val)
n.5626A>T
14g.21392808T>CCA388878970CHD8c.5633A>G (p.Asp1878Gly)
c.22A>G
c.4170A>G
c.6470A>G (p.Asp2157Gly)
n.5626A>G
 ClinVar dbSNP
14g.21392808T>GCA388878971CHD8c.5633A>C (p.Asp1878Ala)
c.22A>C
c.4170A>C
c.6470A>C (p.Asp2157Ala)
n.5626A>C
14g.21392808T=CA2122505019CHD8c.5633A= (p.Asp1878=)
c.22A=
c.4170A=
c.6470A= (p.Asp2157=)
n.5626A=
14g.21392809C>ACA388878972CHD8c.5632G>T (p.Asp1878Tyr)
c.21G>T
c.4169G>T
c.6469G>T (p.Asp2157Tyr)
n.5625G>T
14g.21392809C>GCA388878973CHD8c.5632G>C (p.Asp1878His)
c.21G>C
c.4169G>C
c.6469G>C (p.Asp2157His)
n.5625G>C
14g.21392809C>TCA388878974CHD8c.5632G>A (p.Asp1878Asn)
c.21G>A
c.4169G>A
c.6469G>A (p.Asp2157Asn)
n.5625G>A
14g.21392810C>ACA388878975CHD8c.5632-1G>T (n.5632-1G>T)
c.21-1G>T
c.4169-1G>T
c.6469-1G>T (n.6469-1G>T)
n.5625-1G>T
14g.21392810C>GCA388878976CHD8c.5632-1G>C (n.5632-1G>C)
c.21-1G>C
c.4169-1G>C
c.6469-1G>C (n.6469-1G>C)
n.5625-1G>C
14g.21392810C>TCA388878977CHD8c.5632-1G>A (n.5632-1G>A)
c.21-1G>A
c.4169-1G>A
c.6469-1G>A (n.6469-1G>A)
n.5625-1G>A
14g.21392811T>ACA388878978CHD8c.5632-2A>T (n.5632-2A>T)
c.21-2A>T
c.4169-2A>T
c.6469-2A>T (n.6469-2A>T)
n.5625-2A>T
14g.21392811T>CCA388878980CHD8c.5632-2A>G (n.5632-2A>G)
c.21-2A>G
c.4169-2A>G
c.6469-2A>G (n.6469-2A>G)
n.5625-2A>G
14g.21392811T>GCA388878979CHD8c.5632-2A>C (n.5632-2A>C)
c.21-2A>C
c.4169-2A>C
c.6469-2A>C (n.6469-2A>C)
n.5625-2A>C
14g.21392812G>ACA2624077920CHD8c.5632-3C>T (n.5632-3C>T)
c.21-3C>T
c.4169-3C>T
c.6469-3C>T (n.6469-3C>T)
n.5625-3C>T
 gnomAD v4
14g.21392813A>CCA2580087845CHD8c.5632-4T>G (n.5632-4T>G)
c.21-4T>G
c.4169-4T>G
c.6469-4T>G (n.6469-4T>G)
n.5625-4T>G
 ClinVar
14g.21392814A>GCA2504893374CHD8c.5632-5T>C (n.5632-5T>C)
c.21-5T>C
c.4169-5T>C
c.6469-5T>C (n.6469-5T>C)
n.5625-5T>C
14g.21392815T>ACA2624077921CHD8c.5632-6A>T (n.5632-6A>T)
c.21-6A>T
c.4169-6A>T
c.6469-6A>T (n.6469-6A>T)
n.5625-6A>T
 gnomAD v4
14g.21392815_21392816delinsTGCA2122505023CHD8c.5632-7_5632-6delinsCA (n.5632-7_5632-6delinsCA)
c.21-7_21-6delinsCA
c.4169-7_4169-6delinsCA
c.6469-7_6469-6delinsCA (n.6469-7_6469-6delinsCA)
n.5625-7_5625-6delinsCA
14g.21392819delCA2122505025CHD8c.5632-7del (n.5632-7del)
c.21-7del
c.4169-7del
c.6469-7del (n.6469-7del)
n.5625-7del
 dbSNP
14g.21392817G>ACA2624077922CHD8c.5632-8C>T (n.5632-8C>T)
c.21-8C>T
c.4169-8C>T
c.6469-8C>T (n.6469-8C>T)
n.5625-8C>T
 dbSNP gnomAD v4
14g.21392818G>ACA612384252CHD8c.5632-9C>T (n.5632-9C>T)
c.21-9C>T
c.4169-9C>T
c.6469-9C>T (n.6469-9C>T)
n.5625-9C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21392818G=CA2122505028CHD8c.5632-9C= (n.5632-9C=)
c.21-9C=
c.4169-9C=
c.6469-9C= (n.6469-9C=)
n.5625-9C=
14g.21392818_21392822delinsGGAAACA2122505027CHD8c.5632-13_5632-9delinsTTTCC (n.5632-13_5632-9delinsTTTCC)
c.21-13_21-9delinsTTTCC
c.4169-13_4169-9delinsTTTCC
c.6469-13_6469-9delinsTTTCC (n.6469-13_6469-9delinsTTTCC)
n.5625-13_5625-9delinsTTTCC
14g.21392819G>TCA2624077923CHD8c.5632-10C>A (n.5632-10C>A)
c.21-10C>A
c.4169-10C>A
c.6469-10C>A (n.6469-10C>A)
n.5625-10C>A
 gnomAD v4
14g.21392827_21392830delCA257592333CHD8c.5632-13_5632-10del (n.5632-13_5632-10del)
c.21-13_21-10del
c.4169-13_4169-10del
c.6469-13_6469-10del (n.6469-13_6469-10del)
n.5625-13_5625-10del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21392819_21392820insGGACA2522763459CHD8c.5632-11_5632-10insTCC (n.5632-11_5632-10insTCC)
c.21-11_21-10insTCC
c.4169-11_4169-10insTCC
c.6469-11_6469-10insTCC (n.6469-11_6469-10insTCC)
n.5625-11_5625-10insTCC
14g.21392820A>GCA2800818455CHD8c.5632-11T>C (n.5632-11T>C)
c.21-11T>C
c.4169-11T>C
c.6469-11T>C (n.6469-11T>C)
n.5625-11T>C
14g.21392822A>GCA2575477004CHD8c.5632-13T>C (n.5632-13T>C)
c.21-13T>C
c.4169-13T>C
c.6469-13T>C (n.6469-13T>C)
n.5625-13T>C
 gnomAD v4
14g.21392822A>TCA2575477005CHD8c.5632-13T>A (n.5632-13T>A)
c.21-13T>A
c.4169-13T>A
c.6469-13T>A (n.6469-13T>A)
n.5625-13T>A
14g.21392826A>GCA2624077924CHD8c.5632-17T>C (n.5632-17T>C)
c.21-17T>C
c.4169-17T>C
c.6469-17T>C (n.6469-17T>C)
n.5625-17T>C
 gnomAD v4
14g.21392826_21392827delinsAGCA2122505031CHD8c.5632-18_5632-17delinsCT (n.5632-18_5632-17delinsCT)
c.21-18_21-17delinsCT
c.4169-18_4169-17delinsCT
c.6469-18_6469-17delinsCT (n.6469-18_6469-17delinsCT)
n.5625-18_5625-17delinsCT
14g.21392827delCA7090769CHD8c.5632-18del (n.5632-18del)
c.21-18del
c.4169-18del
c.6469-18del (n.6469-18del)
n.5625-18del
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21392827_21392829delinsGAACA2122505034CHD8c.5632-20_5632-18delinsTTC (n.5632-20_5632-18delinsTTC)
c.21-20_21-18delinsTTC
c.4169-20_4169-18delinsTTC
c.6469-20_6469-18delinsTTC (n.6469-20_6469-18delinsTTC)
n.5625-20_5625-18delinsTTC
14g.21392829_21392830delCA704112710CHD8c.5632-20_5632-19del (n.5632-20_5632-19del)
c.21-20_21-19del
c.4169-20_4169-19del
c.6469-20_6469-19del (n.6469-20_6469-19del)
n.5625-20_5625-19del
 dbSNP
14g.21392829A=CA2122505036CHD8c.5632-20T= (n.5632-20T=)
c.21-20T=
c.4169-20T=
c.6469-20T= (n.6469-20T=)
n.5625-20T=
14g.21392829A>TCA612384253CHD8c.5632-20T>A (n.5632-20T>A)
c.21-20T>A
c.4169-20T>A
c.6469-20T>A (n.6469-20T>A)
n.5625-20T>A
 dbSNP gnomAD v2 gnomAD v4
14g.21392829_21392830insGCTCA2624077932CHD8c.5632-21_5632-20insAGC (n.5632-21_5632-20insAGC)
c.21-21_21-20insAGC
c.4169-21_4169-20insAGC
c.6469-21_6469-20insAGC (n.6469-21_6469-20insAGC)
n.5625-21_5625-20insAGC
 gnomAD v4
14g.21392829_21392830insGCTAGTAGAGGTGAGTGGTAGAGAAAGTCTTTCA2624077933CHD8c.5632-21_5632-20insAAAGACTTTCTCTACCACTCACCTCTACTAGC (n.5632-21_5632-20insAAAGACTTTCTCTACCACTCACCTCTACTAGC)
c.21-21_21-20insAAAGACTTTCTCTACCACTCACCTCTACTAGC
c.4169-21_4169-20insAAAGACTTTCTCTACCACTCACCTCTACTAGC
c.6469-21_6469-20insAAAGACTTTCTCTACCACTCACCTCTACTAGC (n.6469-21_6469-20insAAAGACTTTCTCTACCACTCACCTCTACTAGC)
n.5625-21_5625-20insAAAGACTTTCTCTACCACTCACCTCTACTAGC
 gnomAD v4
14g.21392829_21392830insGCTAGTAGAGGTGAGTGGTAGAGAAAGTCTTTAACCTGACGATTAGATTGTCTTTTTCA2624077930CHD8c.5632-21_5632-20insAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTCTACTAGC (n.5632-21_5632-20insAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTCTACTAGC)
c.21-21_21-20insAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTCTACTAGC
c.4169-21_4169-20insAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTCTACTAGC
c.6469-21_6469-20insAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTCTACTAGC (n.6469-21_6469-20insAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTCTACTAGC)
n.5625-21_5625-20insAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTCTACTAGC
 gnomAD v4
14g.21392829_21392830insGCTAGTAGAGGTGAGTGGTAGAGAAAGTCTTTAACCTGACGATTAGATTGTCTTTTTATTCCCAATAATTGATGCA2741358987CHD8c.5632-21_5632-20insCATCAATTATTGGGAATAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTCTACTAGC (n.5632-21_5632-20insCATCAATTATTGGGAATAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTCTACTAGC)
c.21-21_21-20insCATCAATTATTGGGAATAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTCTACTAGC
c.4169-21_4169-20insCATCAATTATTGGGAATAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTCTACTAGC
c.6469-21_6469-20insCATCAATTATTGGGAATAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTCTACTAGC (n.6469-21_6469-20insCATCAATTATTGGGAATAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTCTACTAGC)
n.5625-21_5625-20insCATCAATTATTGGGAATAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTCTACTAGC
14g.21392830A=CA2122505041CHD8c.5632-21T= (n.5632-21T=)
c.21-21T=
c.4169-21T=
c.6469-21T= (n.6469-21T=)
n.5625-21T=
14g.21392830A>GCA257592334CHD8c.5632-21T>C (n.5632-21T>C)
c.21-21T>C
c.4169-21T>C
c.6469-21T>C (n.6469-21T>C)
n.5625-21T>C
 dbSNP
14g.21392830_21392831insGCA2624077935CHD8c.5632-22_5632-21insC (n.5632-22_5632-21insC)
c.21-22_21-21insC
c.4169-22_4169-21insC
c.6469-22_6469-21insC (n.6469-22_6469-21insC)
n.5625-22_5625-21insC
 gnomAD v4
14g.21392831delCA2624077936CHD8c.5632-22del (n.5632-22del)
c.21-22del
c.4169-22del
c.6469-22del (n.6469-22del)
n.5625-22del
 gnomAD v4
14g.21392831T>CCA612384254CHD8c.5632-22A>G (n.5632-22A>G)
c.21-22A>G
c.4169-22A>G
c.6469-22A>G (n.6469-22A>G)
n.5625-22A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21392831T>GCA7090770CHD8c.5632-22A>C (n.5632-22A>C)
c.21-22A>C
c.4169-22A>C
c.6469-22A>C (n.6469-22A>C)
n.5625-22A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21392831T=CA2122505045CHD8c.5632-22A= (n.5632-22A=)
c.21-22A=
c.4169-22A=
c.6469-22A= (n.6469-22A=)
n.5625-22A=
14g.21392832_21392833insGAGGTGAGTGGTAGAGAAAGTCTTTAACCTGACGATTAGATTGTCTTTTTATTCCA2624077938CHD8c.5632-24_5632-23insGAATAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTC (n.5632-24_5632-23insGAATAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTC)
c.21-24_21-23insGAATAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTC
c.4169-24_4169-23insGAATAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTC
c.6469-24_6469-23insGAATAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTC (n.6469-24_6469-23insGAATAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTC)
n.5625-24_5625-23insGAATAAAAAGACAATCTAATCGTCAGGTTAAAGACTTTCTCTACCACTCACCTC
 gnomAD v4
14g.21392833C>TCA2624077939CHD8c.5632-24G>A (n.5632-24G>A)
c.21-24G>A
c.4169-24G>A
c.6469-24G>A (n.6469-24G>A)
n.5625-24G>A
 gnomAD v4
14g.21392835_21392836delinsATCA2122505048CHD8c.5632-27_5632-26delinsAT (n.5632-27_5632-26delinsAT)
c.21-27_21-26delinsAT
c.4169-27_4169-26delinsAT
c.6469-27_6469-26delinsAT (n.6469-27_6469-26delinsAT)
n.5625-27_5625-26delinsAT
14g.21392836T>CCA704112721CHD8c.5632-27A>G (n.5632-27A>G)
c.21-27A>G
c.4169-27A>G
c.6469-27A>G (n.6469-27A>G)
n.5625-27A>G
 dbSNP gnomAD v3 gnomAD v4
14g.21392836T=CA2122505049CHD8c.5632-27A= (n.5632-27A=)
c.21-27A=
c.4169-27A=
c.6469-27A= (n.6469-27A=)
n.5625-27A=
14g.21392839delCA612384255CHD8c.5632-27del (n.5632-27del)
c.21-27del
c.4169-27del
c.6469-27del (n.6469-27del)
n.5625-27del
 dbSNP gnomAD v2
14g.21392839T>CCA2624077940CHD8c.5632-30A>G (n.5632-30A>G)
c.21-30A>G
c.4169-30A>G
c.6469-30A>G (n.6469-30A>G)
n.5625-30A>G
 gnomAD v4
14g.21392842G=CA2122505052CHD8c.5632-33C= (n.5632-33C=)
c.21-33C=
c.4169-33C=
c.6469-33C= (n.6469-33C=)
n.5625-33C=
14g.21392842G>TCA7090771CHD8c.5632-33C>A (n.5632-33C>A)
c.21-33C>A
c.4169-33C>A
c.6469-33C>A (n.6469-33C>A)
n.5625-33C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21392843A=CA2122505054CHD8c.5632-34T= (n.5632-34T=)
c.21-34T=
c.4169-34T=
c.6469-34T= (n.6469-34T=)
n.5625-34T=
14g.21392843A>GCA7090772CHD8c.5632-34T>C (n.5632-34T>C)
c.21-34T>C
c.4169-34T>C
c.6469-34T>C (n.6469-34T>C)
n.5625-34T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21392844G>ACA257592380CHD8c.5632-35C>T (n.5632-35C>T)
c.21-35C>T
c.4169-35C>T
c.6469-35C>T (n.6469-35C>T)
n.5625-35C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21392844G=CA2122505057CHD8c.5632-35C= (n.5632-35C=)
c.21-35C=
c.4169-35C=
c.6469-35C= (n.6469-35C=)
n.5625-35C=
14g.21392844G>TCA2624077945CHD8c.5632-35C>A (n.5632-35C>A)
c.21-35C>A
c.4169-35C>A
c.6469-35C>A (n.6469-35C>A)
n.5625-35C>A
 gnomAD v4
14g.21392845T>ACA2122505060CHD8c.5632-36A>T (n.5632-36A>T)
c.21-36A>T
c.4169-36A>T
c.6469-36A>T (n.6469-36A>T)
n.5625-36A>T
 dbSNP gnomAD v4
14g.21392845T>CCA612384256CHD8c.5632-36A>G (n.5632-36A>G)
c.21-36A>G
c.4169-36A>G
c.6469-36A>G (n.6469-36A>G)
n.5625-36A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21392845T=CA2122505059CHD8c.5632-36A= (n.5632-36A=)
c.21-36A=
c.4169-36A=
c.6469-36A= (n.6469-36A=)
n.5625-36A=
14g.21392846C>ACA2624077948CHD8c.5632-37G>T (n.5632-37G>T)
c.21-37G>T
c.4169-37G>T
c.6469-37G>T (n.6469-37G>T)
n.5625-37G>T
 gnomAD v4
14g.21392846C=CA2122505061CHD8c.5632-37G= (n.5632-37G=)
c.21-37G=
c.4169-37G=
c.6469-37G= (n.6469-37G=)
n.5625-37G=
14g.21392846C>TCA2575477006CHD8c.5632-37G>A (n.5632-37G>A)
c.21-37G>A
c.4169-37G>A
c.6469-37G>A (n.6469-37G>A)
n.5625-37G>A
 gnomAD v4
14g.21392847dupCA919372021CHD8c.5632-38dup (n.5632-38dup)
c.21-38dup
c.4169-38dup
c.6469-38dup (n.6469-38dup)
n.5625-38dup
 dbSNP gnomAD v4
14g.21392848G>ACA2624077951CHD8c.5632-39C>T (n.5632-39C>T)
c.21-39C>T
c.4169-39C>T
c.6469-39C>T (n.6469-39C>T)
n.5625-39C>T
 gnomAD v4
14g.21392848G>CCA704112728CHD8c.5632-39C>G (n.5632-39C>G)
c.21-39C>G
c.4169-39C>G
c.6469-39C>G (n.6469-39C>G)
n.5625-39C>G
 dbSNP gnomAD v3 gnomAD v4
14g.21392848G=CA2122505062CHD8c.5632-39C= (n.5632-39C=)
c.21-39C=
c.4169-39C=
c.6469-39C= (n.6469-39C=)
n.5625-39C=
14g.21392851T>CCA704112732CHD8c.5632-42A>G (n.5632-42A>G)
c.21-42A>G
c.4169-42A>G
c.6469-42A>G (n.6469-42A>G)
n.5625-42A>G
 dbSNP
14g.21392851T=CA2122505064CHD8c.5632-42A= (n.5632-42A=)
c.21-42A=
c.4169-42A=
c.6469-42A= (n.6469-42A=)
n.5625-42A=
14g.21392852A=CA2122505065CHD8c.5632-43T= (n.5632-43T=)
c.21-43T=
c.4169-43T=
c.6469-43T= (n.6469-43T=)
n.5625-43T=
14g.21392852A>GCA7090773CHD8c.5632-43T>C (n.5632-43T>C)
c.21-43T>C
c.4169-43T>C
c.6469-43T>C (n.6469-43T>C)
n.5625-43T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21392853C>ACA2624077953CHD8c.5632-44G>T (n.5632-44G>T)
c.21-44G>T
c.4169-44G>T
c.6469-44G>T (n.6469-44G>T)
n.5625-44G>T
 gnomAD v4
14g.21392853C=CA2122505067CHD8c.5632-44G= (n.5632-44G=)
c.21-44G=
c.4169-44G=
c.6469-44G= (n.6469-44G=)
n.5625-44G=
14g.21392853C>TCA612384257CHD8c.5632-44G>A (n.5632-44G>A)
c.21-44G>A
c.4169-44G>A
c.6469-44G>A (n.6469-44G>A)
n.5625-44G>A
 dbSNP gnomAD v2 gnomAD v4
14g.21392855A=CA2122505068CHD8c.5632-46T= (n.5632-46T=)
c.21-46T=
c.4169-46T=
c.6469-46T= (n.6469-46T=)
n.5625-46T=
14g.21392855A>GCA704112740CHD8c.5632-46T>C (n.5632-46T>C)
c.21-46T>C
c.4169-46T>C
c.6469-46T>C (n.6469-46T>C)
n.5625-46T>C
 dbSNP gnomAD v3 gnomAD v4
14g.21392857C>ACA2624077956CHD8c.5632-48G>T (n.5632-48G>T)
c.21-48G>T
c.4169-48G>T
c.6469-48G>T (n.6469-48G>T)
n.5625-48G>T
 gnomAD v4
14g.21392858T>CCA2624077957CHD8c.5632-49A>G (n.5632-49A>G)
c.21-49A>G
c.4169-49A>G
c.6469-49A>G (n.6469-49A>G)
n.5625-49A>G
 gnomAD v4
14g.21392859G>ACA7090774CHD8c.5632-50C>T (n.5632-50C>T)
c.21-50C>T
c.4169-50C>T
c.6469-50C>T (n.6469-50C>T)
n.5625-50C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21392859G=CA2122505070CHD8c.5632-50C= (n.5632-50C=)
c.21-50C=
c.4169-50C=
c.6469-50C= (n.6469-50C=)
n.5625-50C=
14g.21392859G>TCA2575477007CHD8c.5632-50C>A (n.5632-50C>A)
c.21-50C>A
c.4169-50C>A
c.6469-50C>A (n.6469-50C>A)
n.5625-50C>A
 gnomAD v4

Number of alleles fetched