Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.21393727G>ACA388880477CHD8c.5231C>T (p.Thr1744Ile)
c.3768C>T
c.6068C>T (p.Thr2023Ile)
n.5224C>T
n.862C>T
 COSMIC COSMIC
14g.21393727G>CCA388880478CHD8c.5231C>G (p.Thr1744Ser)
c.3768C>G
c.6068C>G (p.Thr2023Ser)
n.5224C>G
n.862C>G
 dbSNP gnomAD v3 gnomAD v4
14g.21393727G=CA2122484090CHD8c.5231C= (p.Thr1744=)
c.3768C=
c.6068C= (p.Thr2023=)
n.5224C=
n.862C=
14g.21393727G>TCA388880479CHD8c.5231C>A (p.Thr1744Asn)
c.3768C>A
c.6068C>A (p.Thr2023Asn)
n.5224C>A
n.862C>A
14g.21393728T>ACA388880480CHD8c.5230A>T (p.Thr1744Ser)
c.3767A>T
c.6067A>T (p.Thr2023Ser)
n.5223A>T
n.861A>T
 gnomAD v4
14g.21393728T>CCA388880481CHD8c.5230A>G (p.Thr1744Ala)
c.3767A>G
c.6067A>G (p.Thr2023Ala)
n.5223A>G
n.861A>G
14g.21393728T>GCA388880482CHD8c.5230A>C (p.Thr1744Pro)
c.3767A>C
c.6067A>C (p.Thr2023Pro)
n.5223A>C
n.861A>C
14g.21393729C>ACA484995267CHD8c.5229G>T (p.Leu1743=)
c.3766G>T
c.6066G>T (p.Leu2022=)
n.5222G>T
n.860G>T
14g.21393729C=CA2122484094CHD8c.5229G= (p.Leu1743=)
c.3766G=
c.6066G= (p.Leu2022=)
n.5222G=
n.860G=
14g.21393729C>GCA7090843CHD8c.5229G>C (p.Leu1743=)
c.3766G>C
c.6066G>C (p.Leu2022=)
n.5222G>C
n.860G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393729C>TCA484995264CHD8c.5229G>A (p.Leu1743=)
c.3766G>A
c.6066G>A (p.Leu2022=)
n.5222G>A
n.860G>A
14g.21393730A>CCA388880485CHD8c.5228T>G (p.Leu1743Arg)
c.3765T>G
c.6065T>G (p.Leu2022Arg)
n.5221T>G
n.859T>G
 gnomAD v4
14g.21393730A>GCA388880483CHD8c.5228T>C (p.Leu1743Pro)
c.3765T>C
c.6065T>C (p.Leu2022Pro)
n.5221T>C
n.859T>C
14g.21393730A>TCA388880484CHD8c.5228T>A (p.Leu1743Gln)
c.3765T>A
c.6065T>A (p.Leu2022Gln)
n.5221T>A
n.859T>A
14g.21393731G>ACA484995274CHD8c.5227C>T (p.Leu1743=)
c.3764C>T
c.6064C>T (p.Leu2022=)
n.5220C>T
n.858C>T
14g.21393731G>CCA388880486CHD8c.5227C>G (p.Leu1743Val)
c.3764C>G
c.6064C>G (p.Leu2022Val)
n.5220C>G
n.858C>G
14g.21393731G>TCA388880487CHD8c.5227C>A (p.Leu1743Met)
c.3764C>A
c.6064C>A (p.Leu2022Met)
n.5220C>A
n.858C>A
14g.21393732A>CCA388880488CHD8c.5226T>G (p.Ser1742Arg)
c.3763T>G
c.6063T>G (p.Ser2021Arg)
n.5219T>G
n.857T>G
14g.21393732A>GCA484995283CHD8c.5226T>C (p.Ser1742=)
c.3763T>C
c.6063T>C (p.Ser2021=)
n.5219T>C
n.857T>C
14g.21393732A>TCA388880489CHD8c.5226T>A (p.Ser1742Arg)
c.3763T>A
c.6063T>A (p.Ser2021Arg)
n.5219T>A
n.857T>A
14g.21393733C>ACA388880490CHD8c.5225G>T (p.Ser1742Ile)
c.3762G>T
c.6062G>T (p.Ser2021Ile)
n.5218G>T
n.856G>T
14g.21393733C=CA2122484097CHD8c.5225G= (p.Ser1742=)
c.3762G=
c.6062G= (p.Ser2021=)
n.5218G=
n.856G=
14g.21393733C>GCA388880491CHD8c.5225G>C (p.Ser1742Thr)
c.3762G>C
c.6062G>C (p.Ser2021Thr)
n.5218G>C
n.856G>C
 ClinVar dbSNP
14g.21393733C>TCA7090844CHD8c.5225G>A (p.Ser1742Asn)
c.3762G>A
c.6062G>A (p.Ser2021Asn)
n.5218G>A
n.856G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393734T>ACA388880492CHD8c.5224A>T (p.Ser1742Cys)
c.3761A>T
c.6061A>T (p.Ser2021Cys)
n.5217A>T
n.855A>T
14g.21393734T>CCA388880493CHD8c.5224A>G (p.Ser1742Gly)
c.3761A>G
c.6061A>G (p.Ser2021Gly)
n.5217A>G
n.855A>G
14g.21393734T>GCA388880494CHD8c.5224A>C (p.Ser1742Arg)
c.3761A>C
c.6061A>C (p.Ser2021Arg)
n.5217A>C
n.855A>C
14g.21393735C>ACA257593188CHD8c.5223G>T (p.Glu1741Asp)
c.3760G>T
c.6060G>T (p.Glu2020Asp)
n.5216G>T
n.854G>T
 dbSNP
14g.21393735C=CA2122484102CHD8c.5223G= (p.Glu1741=)
c.3760G=
c.6060G= (p.Glu2020=)
n.5216G=
n.854G=
14g.21393735C>GCA388880495CHD8c.5223G>C (p.Glu1741Asp)
c.3760G>C
c.6060G>C (p.Glu2020Asp)
n.5216G>C
n.854G>C
 ClinVar
14g.21393735C>TCA484995300CHD8c.5223G>A (p.Glu1741=)
c.3760G>A
c.6060G>A (p.Glu2020=)
n.5216G>A
n.854G>A
14g.21393736T>ACA388880496CHD8c.5222A>T (p.Glu1741Val)
c.3759A>T
c.6059A>T (p.Glu2020Val)
n.5215A>T
n.853A>T
14g.21393736T>CCA388880497CHD8c.5222A>G (p.Glu1741Gly)
c.3759A>G
c.6059A>G (p.Glu2020Gly)
n.5215A>G
n.853A>G
 gnomAD v4
14g.21393736T>GCA388880498CHD8c.5222A>C (p.Glu1741Ala)
c.3759A>C
c.6059A>C (p.Glu2020Ala)
n.5215A>C
n.853A>C
14g.21393737C>ACA388880499CHD8c.5221G>T (p.Glu1741Ter)
c.3758G>T
c.6058G>T (p.Glu2020Ter)
n.5214G>T
n.852G>T
 dbSNP
14g.21393737C=CA2122484107CHD8c.5221G= (p.Glu1741=)
c.3758G=
c.6058G= (p.Glu2020=)
n.5214G=
n.852G=
14g.21393737C>GCA388880501CHD8c.5221G>C (p.Glu1741Gln)
c.3758G>C
c.6058G>C (p.Glu2020Gln)
n.5214G>C
n.852G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21393737C>TCA388880500CHD8c.5221G>A (p.Glu1741Lys)
c.3758G>A
c.6058G>A (p.Glu2020Lys)
n.5214G>A
n.852G>A
14g.21393738C>ACA484995304CHD8c.5220G>T (p.Leu1740=)
c.3757G>T
c.6057G>T (p.Leu2019=)
n.5213G>T
n.851G>T
14g.21393738C>GCA484995305CHD8c.5220G>C (p.Leu1740=)
c.3757G>C
c.6057G>C (p.Leu2019=)
n.5213G>C
n.851G>C
14g.21393738C>TCA484995306CHD8c.5220G>A (p.Leu1740=)
c.3757G>A
c.6057G>A (p.Leu2019=)
n.5213G>A
n.851G>A
 gnomAD v4
14g.21393739A>CCA388880502CHD8c.5219T>G (p.Leu1740Arg)
c.3756T>G
c.6056T>G (p.Leu2019Arg)
n.5212T>G
n.850T>G
14g.21393739A>GCA388880503CHD8c.5219T>C (p.Leu1740Pro)
c.3756T>C
c.6056T>C (p.Leu2019Pro)
n.5212T>C
n.850T>C
14g.21393739A>TCA388880504CHD8c.5219T>A (p.Leu1740Gln)
c.3756T>A
c.6056T>A (p.Leu2019Gln)
n.5212T>A
n.850T>A
14g.21393740G>ACA484995314CHD8c.5218C>T (p.Leu1740=)
c.3755C>T
c.6055C>T (p.Leu2019=)
n.5211C>T
n.849C>T
 gnomAD v4
14g.21393740G>CCA388880505CHD8c.5218C>G (p.Leu1740Val)
c.3755C>G
c.6055C>G (p.Leu2019Val)
n.5211C>G
n.849C>G
14g.21393740G=CA2122484113CHD8c.5218C= (p.Leu1740=)
c.3755C=
c.6055C= (p.Leu2019=)
n.5211C=
n.849C=
14g.21393740G>TCA7090845CHD8c.5218C>A (p.Leu1740Met)
c.3755C>A
c.6055C>A (p.Leu2019Met)
n.5211C>A
n.849C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393741A=CA2122484119CHD8c.5217T= (p.Ser1739=)
c.3754T=
c.6054T= (p.Ser2018=)
n.5210T=
n.848T=
14g.21393741A>CCA388880506CHD8c.5217T>G (p.Ser1739Arg)
c.3754T>G
c.6054T>G (p.Ser2018Arg)
n.5210T>G
n.848T>G
 gnomAD v4
14g.21393741A>GCA7090846CHD8c.5217T>C (p.Ser1739=)
c.3754T>C
c.6054T>C (p.Ser2018=)
n.5210T>C
n.848T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393741A>TCA388880507CHD8c.5217T>A (p.Ser1739Arg)
c.3754T>A
c.6054T>A (p.Ser2018Arg)
n.5210T>A
n.848T>A
14g.21393742C>ACA388880508CHD8c.5216G>T (p.Ser1739Ile)
c.3753G>T
c.6053G>T (p.Ser2018Ile)
n.5209G>T
n.847G>T
 gnomAD v4
14g.21393742C>GCA388880509CHD8c.5216G>C (p.Ser1739Thr)
c.3753G>C
c.6053G>C (p.Ser2018Thr)
n.5209G>C
n.847G>C
14g.21393742C>TCA388880510CHD8c.5216G>A (p.Ser1739Asn)
c.3753G>A
c.6053G>A (p.Ser2018Asn)
n.5209G>A
n.847G>A
14g.21393743T>ACA388880513CHD8c.5215A>T (p.Ser1739Cys)
c.3752A>T
c.6052A>T (p.Ser2018Cys)
n.5208A>T
n.846A>T
14g.21393743T>CCA388880512CHD8c.5215A>G (p.Ser1739Gly)
c.3752A>G
c.6052A>G (p.Ser2018Gly)
n.5208A>G
n.846A>G
 dbSNP gnomAD v2 gnomAD v4
14g.21393743T>GCA388880511CHD8c.5215A>C (p.Ser1739Arg)
c.3752A>C
c.6052A>C (p.Ser2018Arg)
n.5208A>C
n.846A>C
14g.21393743T=CA2122484123CHD8c.5215A= (p.Ser1739=)
c.3752A=
c.6052A= (p.Ser2018=)
n.5208A=
n.846A=
14g.21393744G>ACA7090847CHD8c.5214C>T (p.Pro1738=)
c.3751C>T
c.6051C>T (p.Pro2017=)
n.5207C>T
n.845C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393744G>CCA484995325CHD8c.5214C>G (p.Pro1738=)
c.3751C>G
c.6051C>G (p.Pro2017=)
n.5207C>G
n.845C>G
 gnomAD v4
14g.21393744G=CA2122484128CHD8c.5214C= (p.Pro1738=)
c.3751C=
c.6051C= (p.Pro2017=)
n.5207C=
n.845C=
14g.21393744G>TCA484995327CHD8c.5214C>A (p.Pro1738=)
c.3751C>A
c.6051C>A (p.Pro2017=)
n.5207C>A
n.845C>A
14g.21393745G>ACA388880514CHD8c.5213C>T (p.Pro1738Leu)
c.3750C>T
c.6050C>T (p.Pro2017Leu)
n.5206C>T
n.844C>T
 gnomAD v4
14g.21393745G>CCA388880515CHD8c.5213C>G (p.Pro1738Arg)
c.3750C>G
c.6050C>G (p.Pro2017Arg)
n.5206C>G
n.844C>G
14g.21393745G=CA2122484134CHD8c.5213C= (p.Pro1738=)
c.3750C=
c.6050C= (p.Pro2017=)
n.5206C=
n.844C=
14g.21393745G>TCA388880516CHD8c.5213C>A (p.Pro1738His)
c.3750C>A
c.6050C>A (p.Pro2017His)
n.5206C>A
n.844C>A
 dbSNP gnomAD v3 gnomAD v4
14g.21393746G>ACA388880517CHD8c.5212C>T (p.Pro1738Ser)
c.3749C>T
c.6049C>T (p.Pro2017Ser)
n.5205C>T
n.843C>T
14g.21393746G>CCA388880518CHD8c.5212C>G (p.Pro1738Ala)
c.3749C>G
c.6049C>G (p.Pro2017Ala)
n.5205C>G
n.843C>G
14g.21393746G>TCA388880519CHD8c.5212C>A (p.Pro1738Thr)
c.3749C>A
c.6049C>A (p.Pro2017Thr)
n.5205C>A
n.843C>A
14g.21393747G>ACA484995340CHD8c.5211C>T (p.Val1737=)
c.3748C>T
c.6048C>T (p.Val2016=)
n.5204C>T
n.842C>T
 dbSNP
14g.21393747G>CCA484995341CHD8c.5211C>G (p.Val1737=)
c.3748C>G
c.6048C>G (p.Val2016=)
n.5204C>G
n.842C>G
 gnomAD v4
14g.21393747G>TCA484995342CHD8c.5211C>A (p.Val1737=)
c.3748C>A
c.6048C>A (p.Val2016=)
n.5204C>A
n.842C>A
14g.21393748A>CCA388880522CHD8c.5210T>G (p.Val1737Gly)
c.3747T>G
c.6047T>G (p.Val2016Gly)
n.5203T>G
n.841T>G
14g.21393748A>GCA388880520CHD8c.5210T>C (p.Val1737Ala)
c.3747T>C
c.6047T>C (p.Val2016Ala)
n.5203T>C
n.841T>C
14g.21393748A>TCA388880521CHD8c.5210T>A (p.Val1737Asp)
c.3747T>A
c.6047T>A (p.Val2016Asp)
n.5203T>A
n.841T>A
14g.21393749C>ACA388880523CHD8c.5209G>T (p.Val1737Phe)
c.3746G>T
c.6046G>T (p.Val2016Phe)
n.5202G>T
n.840G>T
 dbSNP
14g.21393749C=CA2122484138CHD8c.5209G= (p.Val1737=)
c.3746G=
c.6046G= (p.Val2016=)
n.5202G=
n.840G=
14g.21393749C>GCA388880524CHD8c.5209G>C (p.Val1737Leu)
c.3746G>C
c.6046G>C (p.Val2016Leu)
n.5202G>C
n.840G>C
 gnomAD v4
14g.21393749C>TCA388880525CHD8c.5209G>A (p.Val1737Ile)
c.3746G>A
c.6046G>A (p.Val2016Ile)
n.5202G>A
n.840G>A
 ClinVar dbSNP
14g.21393750C>ACA388880526CHD8c.5208G>T (p.Gln1736His)
c.3745G>T
c.6045G>T (p.Gln2015His)
n.5201G>T
n.839G>T
14g.21393750C>GCA388880527CHD8c.5208G>C (p.Gln1736His)
c.3745G>C
c.6045G>C (p.Gln2015His)
n.5201G>C
n.839G>C
14g.21393750C>TCA484995357CHD8c.5208G>A (p.Gln1736=)
c.3745G>A
c.6045G>A (p.Gln2015=)
n.5201G>A
n.839G>A
14g.21393751T>ACA388880528CHD8c.5207A>T (p.Gln1736Leu)
c.3744A>T
c.6044A>T (p.Gln2015Leu)
n.5200A>T
n.838A>T
14g.21393751T>CCA388880530CHD8c.5207A>G (p.Gln1736Arg)
c.3744A>G
c.6044A>G (p.Gln2015Arg)
n.5200A>G
n.838A>G
14g.21393751T>GCA388880529CHD8c.5207A>C (p.Gln1736Pro)
c.3744A>C
c.6044A>C (p.Gln2015Pro)
n.5200A>C
n.838A>C
14g.21393752G>ACA388880531CHD8c.5206C>T (p.Gln1736Ter)
c.3743C>T
c.6043C>T (p.Gln2015Ter)
n.5199C>T
n.837C>T
 dbSNP COSMIC COSMIC
14g.21393752G>CCA388880532CHD8c.5206C>G (p.Gln1736Glu)
c.3743C>G
c.6043C>G (p.Gln2015Glu)
n.5199C>G
n.837C>G
14g.21393752G=CA2122484143CHD8c.5206C= (p.Gln1736=)
c.3743C=
c.6043C= (p.Gln2015=)
n.5199C=
n.837C=
14g.21393752G>TCA388880533CHD8c.5206C>A (p.Gln1736Lys)
c.3743C>A
c.6043C>A (p.Gln2015Lys)
n.5199C>A
n.837C>A
14g.21393753G>ACA484995374CHD8c.5205C>T (p.Thr1735=)
c.3742C>T
c.6042C>T (p.Thr2014=)
n.5198C>T
n.836C>T
14g.21393753G>CCA484995367CHD8c.5205C>G (p.Thr1735=)
c.3742C>G
c.6042C>G (p.Thr2014=)
n.5198C>G
n.836C>G
14g.21393753G>TCA484995369CHD8c.5205C>A (p.Thr1735=)
c.3742C>A
c.6042C>A (p.Thr2014=)
n.5198C>A
n.836C>A
14g.21393754G>ACA257593210CHD8c.5204C>T (p.Thr1735Ile)
c.3741C>T
c.6041C>T (p.Thr2014Ile)
n.5197C>T
n.835C>T
 dbSNP gnomAD v3 gnomAD v4
14g.21393754G>CCA388880534CHD8c.5204C>G (p.Thr1735Ser)
c.3741C>G
c.6041C>G (p.Thr2014Ser)
n.5197C>G
n.835C>G
14g.21393754G=CA2122484148CHD8c.5204C= (p.Thr1735=)
c.3741C=
c.6041C= (p.Thr2014=)
n.5197C=
n.835C=
14g.21393754G>TCA7090848CHD8c.5204C>A (p.Thr1735Asn)
c.3741C>A
c.6041C>A (p.Thr2014Asn)
n.5197C>A
n.835C>A
 dbSNP ExAC gnomAD v2
14g.21393755T>ACA388880535CHD8c.5203A>T (p.Thr1735Ser)
c.3740A>T
c.6040A>T (p.Thr2014Ser)
n.5196A>T
n.834A>T
14g.21393755T>CCA388880536CHD8c.5203A>G (p.Thr1735Ala)
c.3740A>G
c.6040A>G (p.Thr2014Ala)
n.5196A>G
n.834A>G
14g.21393755T>GCA388880537CHD8c.5203A>C (p.Thr1735Pro)
c.3740A>C
c.6040A>C (p.Thr2014Pro)
n.5196A>C
n.834A>C
14g.21393756A=CA2122484151CHD8c.5202T= (p.Ala1734=)
c.3739T=
c.6039T= (p.Ala2013=)
n.5195T=
n.833T=
14g.21393756A>CCA484995385CHD8c.5202T>G (p.Ala1734=)
c.3739T>G
c.6039T>G (p.Ala2013=)
n.5195T>G
n.833T>G
14g.21393756A>GCA484995388CHD8c.5202T>C (p.Ala1734=)
c.3739T>C
c.6039T>C (p.Ala2013=)
n.5195T>C
n.833T>C
 dbSNP gnomAD v2 gnomAD v4
14g.21393756A>TCA484995391CHD8c.5202T>A (p.Ala1734=)
c.3739T>A
c.6039T>A (p.Ala2013=)
n.5195T>A
n.833T>A
14g.21393757G>ACA388880538CHD8c.5201C>T (p.Ala1734Val)
c.3738C>T
c.6038C>T (p.Ala2013Val)
n.5194C>T
n.832C>T
 dbSNP gnomAD v3 gnomAD v4
14g.21393757G>CCA388880539CHD8c.5201C>G (p.Ala1734Gly)
c.3738C>G
c.6038C>G (p.Ala2013Gly)
n.5194C>G
n.832C>G
14g.21393757G=CA2122484160CHD8c.5201C= (p.Ala1734=)
c.3738C=
c.6038C= (p.Ala2013=)
n.5194C=
n.832C=
14g.21393757G>TCA388880540CHD8c.5201C>A (p.Ala1734Asp)
c.3738C>A
c.6038C>A (p.Ala2013Asp)
n.5194C>A
n.832C>A
14g.21393758C>ACA388880543CHD8c.5200G>T (p.Ala1734Ser)
c.3737G>T
c.6037G>T (p.Ala2013Ser)
n.5193G>T
n.831G>T
14g.21393758C>GCA388880542CHD8c.5200G>C (p.Ala1734Pro)
c.3737G>C
c.6037G>C (p.Ala2013Pro)
n.5193G>C
n.831G>C
 gnomAD v4
14g.21393758C>TCA388880541CHD8c.5200G>A (p.Ala1734Thr)
c.3737G>A
c.6037G>A (p.Ala2013Thr)
n.5193G>A
n.831G>A
 ClinVar
14g.21393759T>ACA484995399CHD8c.5199A>T (p.Thr1733=)
c.3736A>T
c.6036A>T (p.Thr2012=)
n.5192A>T
n.830A>T
14g.21393759T>CCA484995400CHD8c.5199A>G (p.Thr1733=)
c.3736A>G
c.6036A>G (p.Thr2012=)
n.5192A>G
n.830A>G
 dbSNP gnomAD v4
14g.21393759T>GCA484995402CHD8c.5199A>C (p.Thr1733=)
c.3736A>C
c.6036A>C (p.Thr2012=)
n.5192A>C
n.830A>C
14g.21393759T=CA2122484165CHD8c.5199A= (p.Thr1733=)
c.3736A=
c.6036A= (p.Thr2012=)
n.5192A=
n.830A=
14g.21393760G>ACA7090849CHD8c.5198C>T (p.Thr1733Ile)
c.3735C>T
c.6035C>T (p.Thr2012Ile)
n.5191C>T
n.829C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393760G>CCA388880544CHD8c.5198C>G (p.Thr1733Arg)
c.3735C>G
c.6035C>G (p.Thr2012Arg)
n.5191C>G
n.829C>G
 dbSNP gnomAD v2
14g.21393760G=CA2122484171CHD8c.5198C= (p.Thr1733=)
c.3735C=
c.6035C= (p.Thr2012=)
n.5191C=
n.829C=
14g.21393760G>TCA388880545CHD8c.5198C>A (p.Thr1733Lys)
c.3735C>A
c.6035C>A (p.Thr2012Lys)
n.5191C>A
n.829C>A
14g.21393761T>ACA388880546CHD8c.5197A>T (p.Thr1733Ser)
c.3734A>T
c.6034A>T (p.Thr2012Ser)
n.5190A>T
n.828A>T
14g.21393761T>CCA388880547CHD8c.5197A>G (p.Thr1733Ala)
c.3734A>G
c.6034A>G (p.Thr2012Ala)
n.5190A>G
n.828A>G
14g.21393761T>GCA388880548CHD8c.5197A>C (p.Thr1733Pro)
c.3734A>C
c.6034A>C (p.Thr2012Pro)
n.5190A>C
n.828A>C
14g.21393762C>ACA388880549CHD8c.5196G>T (p.Glu1732Asp)
c.3733G>T
c.6033G>T (p.Glu2011Asp)
n.5189G>T
n.827G>T
14g.21393762C>GCA388880550CHD8c.5196G>C (p.Glu1732Asp)
c.3733G>C
c.6033G>C (p.Glu2011Asp)
n.5189G>C
n.827G>C
14g.21393762C>TCA484995408CHD8c.5196G>A (p.Glu1732=)
c.3733G>A
c.6033G>A (p.Glu2011=)
n.5189G>A
n.827G>A
14g.21393763T>ACA388880551CHD8c.5195A>T (p.Glu1732Val)
c.3732A>T
c.6032A>T (p.Glu2011Val)
n.5188A>T
n.826A>T
14g.21393763T>CCA388880552CHD8c.5195A>G (p.Glu1732Gly)
c.3732A>G
c.6032A>G (p.Glu2011Gly)
n.5188A>G
n.826A>G
14g.21393763T>GCA388880553CHD8c.5195A>C (p.Glu1732Ala)
c.3732A>C
c.6032A>C (p.Glu2011Ala)
n.5188A>C
n.826A>C
14g.21393763dupCA2695219074CHD8c.5195dup (p.Thr1733AspfsTer?)
c.3732dup
c.6032dup (p.Thr2012AspfsTer?)
n.5188dup
n.826dup
14g.21393763_21393764insACA2695219075CHD8c.5194_5195insT (p.Glu1732ValfsTer?)
c.3731_3732insT
c.6031_6032insT (p.Glu2011ValfsTer?)
n.5187_5188insT
n.825_826insT
14g.21393764C>ACA388880554CHD8c.5194G>T (p.Glu1732Ter)
c.3731G>T
c.6031G>T (p.Glu2011Ter)
n.5187G>T
n.825G>T
 dbSNP
14g.21393764C=CA2122484182CHD8c.5194G= (p.Glu1732=)
c.3731G=
c.6031G= (p.Glu2011=)
n.5187G=
n.825G=
14g.21393764C>GCA388880555CHD8c.5194G>C (p.Glu1732Gln)
c.3731G>C
c.6031G>C (p.Glu2011Gln)
n.5187G>C
n.825G>C
14g.21393764C>TCA388880556CHD8c.5194G>A (p.Glu1732Lys)
c.3731G>A
c.6031G>A (p.Glu2011Lys)
n.5187G>A
n.825G>A
14g.21393765C>ACA388880558CHD8c.5193G>T (p.Glu1731Asp)
c.3730G>T
c.6030G>T (p.Glu2010Asp)
n.5186G>T
n.824G>T
14g.21393765C>GCA388880557CHD8c.5193G>C (p.Glu1731Asp)
c.3730G>C
c.6030G>C (p.Glu2010Asp)
n.5186G>C
n.824G>C
14g.21393765C>TCA484995423CHD8c.5193G>A (p.Glu1731=)
c.3730G>A
c.6030G>A (p.Glu2010=)
n.5186G>A
n.824G>A
 gnomAD v4
14g.21393766T>ACA388880559CHD8c.5192A>T (p.Glu1731Val)
c.3729A>T
c.6029A>T (p.Glu2010Val)
n.5185A>T
n.823A>T
14g.21393766T>CCA388880560CHD8c.5192A>G (p.Glu1731Gly)
c.3729A>G
c.6029A>G (p.Glu2010Gly)
n.5185A>G
n.823A>G
14g.21393766T>GCA388880561CHD8c.5192A>C (p.Glu1731Ala)
c.3729A>C
c.6029A>C (p.Glu2010Ala)
n.5185A>C
n.823A>C
14g.21393767C>ACA388880562CHD8c.5191G>T (p.Glu1731Ter)
c.3728G>T
c.6028G>T (p.Glu2010Ter)
n.5184G>T
n.822G>T
 dbSNP
14g.21393767C=CA2122484188CHD8c.5191G= (p.Glu1731=)
c.3728G=
c.6028G= (p.Glu2010=)
n.5184G=
n.822G=
14g.21393767C>GCA388880563CHD8c.5191G>C (p.Glu1731Gln)
c.3728G>C
c.6028G>C (p.Glu2010Gln)
n.5184G>C
n.822G>C
14g.21393767C>TCA7090850CHD8c.5191G>A (p.Glu1731Lys)
c.3728G>A
c.6028G>A (p.Glu2010Lys)
n.5184G>A
n.822G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393768G>ACA7090851CHD8c.5190C>T (p.Pro1730=)
c.3727C>T
c.6027C>T (p.Pro2009=)
n.5183C>T
n.821C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393768G>CCA484995432CHD8c.5190C>G (p.Pro1730=)
c.3727C>G
c.6027C>G (p.Pro2009=)
n.5183C>G
n.821C>G
 gnomAD v4
14g.21393768G=CA2122484193CHD8c.5190C= (p.Pro1730=)
c.3727C=
c.6027C= (p.Pro2009=)
n.5183C=
n.821C=
14g.21393768G>TCA484995433CHD8c.5190C>A (p.Pro1730=)
c.3727C>A
c.6027C>A (p.Pro2009=)
n.5183C>A
n.821C>A
14g.21393769G>ACA388880564CHD8c.5189C>T (p.Pro1730Leu)
c.3726C>T
c.6026C>T (p.Pro2009Leu)
n.5182C>T
n.820C>T
 COSMIC COSMIC
14g.21393769G>CCA388880565CHD8c.5189C>G (p.Pro1730Arg)
c.3726C>G
c.6026C>G (p.Pro2009Arg)
n.5182C>G
n.820C>G
14g.21393769G>TCA388880566CHD8c.5189C>A (p.Pro1730His)
c.3726C>A
c.6026C>A (p.Pro2009His)
n.5182C>A
n.820C>A
14g.21393770G>ACA388880567CHD8c.5188C>T (p.Pro1730Ser)
c.3725C>T
c.6025C>T (p.Pro2009Ser)
n.5181C>T
n.819C>T
 dbSNP gnomAD v2 gnomAD v4
14g.21393770G>CCA388880568CHD8c.5188C>G (p.Pro1730Ala)
c.3725C>G
c.6025C>G (p.Pro2009Ala)
n.5181C>G
n.819C>G
 gnomAD v4
14g.21393770G=CA2122484200CHD8c.5188C= (p.Pro1730=)
c.3725C=
c.6025C= (p.Pro2009=)
n.5181C=
n.819C=
14g.21393770G>TCA388880569CHD8c.5188C>A (p.Pro1730Thr)
c.3725C>A
c.6025C>A (p.Pro2009Thr)
n.5181C>A
n.819C>A
 dbSNP gnomAD v3 gnomAD v4
14g.21393771T>ACA484995440CHD8c.5187A>T (p.Ser1729=)
c.3724A>T
c.6024A>T (p.Ser2008=)
n.5180A>T
n.818A>T
14g.21393771T>CCA484995441CHD8c.5187A>G (p.Ser1729=)
c.3724A>G
c.6024A>G (p.Ser2008=)
n.5180A>G
n.818A>G
14g.21393771T>GCA484995442CHD8c.5187A>C (p.Ser1729=)
c.3724A>C
c.6024A>C (p.Ser2008=)
n.5180A>C
n.818A>C
14g.21393772G>ACA388880572CHD8c.5186C>T (p.Ser1729Leu)
c.3723C>T
c.6023C>T (p.Ser2008Leu)
n.5179C>T
n.817C>T
14g.21393772G>CCA388880570CHD8c.5186C>G (p.Ser1729Ter)
c.3723C>G
c.6023C>G (p.Ser2008Ter)
n.5179C>G
n.817C>G
14g.21393772G>TCA388880571CHD8c.5186C>A (p.Ser1729Ter)
c.3723C>A
c.6023C>A (p.Ser2008Ter)
n.5179C>A
n.817C>A
14g.21393773A>CCA388880573CHD8c.5185T>G (p.Ser1729Ala)
c.3722T>G
c.6022T>G (p.Ser2008Ala)
n.5178T>G
n.816T>G
14g.21393773A>GCA388880574CHD8c.5185T>C (p.Ser1729Pro)
c.3722T>C
c.6022T>C (p.Ser2008Pro)
n.5178T>C
n.816T>C
14g.21393773A>TCA388880575CHD8c.5185T>A (p.Ser1729Thr)
c.3722T>A
c.6022T>A (p.Ser2008Thr)
n.5178T>A
n.816T>A
14g.21393774C>ACA388880576CHD8c.5184G>T (p.Lys1728Asn)
c.3721G>T
c.6021G>T (p.Lys2007Asn)
n.5177G>T
n.815G>T
 gnomAD v4
14g.21393774C>GCA388880577CHD8c.5184G>C (p.Lys1728Asn)
c.3721G>C
c.6021G>C (p.Lys2007Asn)
n.5177G>C
n.815G>C
14g.21393774C>TCA484995450CHD8c.5184G>A (p.Lys1728=)
c.3721G>A
c.6021G>A (p.Lys2007=)
n.5177G>A
n.815G>A
14g.21393775T>ACA388880578CHD8c.5183A>T (p.Lys1728Met)
c.3720A>T
c.6020A>T (p.Lys2007Met)
n.5176A>T
n.814A>T
14g.21393775T>CCA388880579CHD8c.5183A>G (p.Lys1728Arg)
c.3720A>G
c.6020A>G (p.Lys2007Arg)
n.5176A>G
n.814A>G
14g.21393775T>GCA388880580CHD8c.5183A>C (p.Lys1728Thr)
c.3720A>C
c.6020A>C (p.Lys2007Thr)
n.5176A>C
n.814A>C
 dbSNP gnomAD v2 gnomAD v4
14g.21393775T=CA2122484207CHD8c.5183A= (p.Lys1728=)
c.3720A=
c.6020A= (p.Lys2007=)
n.5176A=
n.814A=
14g.21393776T>ACA388880581CHD8c.5182A>T (p.Lys1728Ter)
c.3719A>T
c.6019A>T (p.Lys2007Ter)
n.5175A>T
n.813A>T
 dbSNP
14g.21393776T>CCA388880582CHD8c.5182A>G (p.Lys1728Glu)
c.3719A>G
c.6019A>G (p.Lys2007Glu)
n.5175A>G
n.813A>G
 dbSNP
14g.21393776T>GCA388880583CHD8c.5182A>C (p.Lys1728Gln)
c.3719A>C
c.6019A>C (p.Lys2007Gln)
n.5175A>C
n.813A>C
14g.21393776T=CA2122484213CHD8c.5182A= (p.Lys1728=)
c.3719A=
c.6019A= (p.Lys2007=)
n.5175A=
n.813A=
14g.21393777T>ACA388880584CHD8c.5181A>T (p.Glu1727Asp)
c.3718A>T
c.6018A>T (p.Glu2006Asp)
n.5174A>T
n.812A>T
14g.21393777T>CCA484995460CHD8c.5181A>G (p.Glu1727=)
c.3718A>G
c.6018A>G (p.Glu2006=)
n.5174A>G
n.812A>G
14g.21393777T>GCA388880585CHD8c.5181A>C (p.Glu1727Asp)
c.3718A>C
c.6018A>C (p.Glu2006Asp)
n.5174A>C
n.812A>C
14g.21393778T>ACA388880588CHD8c.5180A>T (p.Glu1727Val)
c.3717A>T
c.6017A>T (p.Glu2006Val)
n.5173A>T
n.811A>T
14g.21393778T>CCA388880586CHD8c.5180A>G (p.Glu1727Gly)
c.3717A>G
c.6017A>G (p.Glu2006Gly)
n.5173A>G
n.811A>G
14g.21393778T>GCA388880587CHD8c.5180A>C (p.Glu1727Ala)
c.3717A>C
c.6017A>C (p.Glu2006Ala)
n.5173A>C
n.811A>C
14g.21393779C>ACA388880589CHD8c.5179G>T (p.Glu1727Ter)
c.3716G>T
c.6016G>T (p.Glu2006Ter)
n.5172G>T
n.810G>T
14g.21393779C>GCA388880590CHD8c.5179G>C (p.Glu1727Gln)
c.3716G>C
c.6016G>C (p.Glu2006Gln)
n.5172G>C
n.810G>C
14g.21393779C>TCA388880591CHD8c.5179G>A (p.Glu1727Lys)
c.3716G>A
c.6016G>A (p.Glu2006Lys)
n.5172G>A
n.810G>A
14g.21393780A>CCA484995475CHD8c.5178T>G (p.Val1726=)
c.3715T>G
c.6015T>G (p.Val2005=)
n.5171T>G
n.809T>G
14g.21393780A>GCA484995476CHD8c.5178T>C (p.Val1726=)
c.3715T>C
c.6015T>C (p.Val2005=)
n.5171T>C
n.809T>C
14g.21393780A>TCA484995477CHD8c.5178T>A (p.Val1726=)
c.3715T>A
c.6015T>A (p.Val2005=)
n.5171T>A
n.809T>A
14g.21393781A>CCA388880592CHD8c.5177T>G (p.Val1726Gly)
c.3714T>G
c.6014T>G (p.Val2005Gly)
n.5170T>G
n.808T>G
 gnomAD v4
14g.21393781A>GCA388880593CHD8c.5177T>C (p.Val1726Ala)
c.3714T>C
c.6014T>C (p.Val2005Ala)
n.5170T>C
n.808T>C
14g.21393781A>TCA388880594CHD8c.5177T>A (p.Val1726Asp)
c.3714T>A
c.6014T>A (p.Val2005Asp)
n.5170T>A
n.808T>A
14g.21393782C>ACA388880595CHD8c.5176G>T (p.Val1726Phe)
c.3713G>T
c.6013G>T (p.Val2005Phe)
n.5169G>T
n.807G>T
14g.21393782C=CA2122484218CHD8c.5176G= (p.Val1726=)
c.3713G=
c.6013G= (p.Val2005=)
n.5169G=
n.807G=
14g.21393782C>GCA388880596CHD8c.5176G>C (p.Val1726Leu)
c.3713G>C
c.6013G>C (p.Val2005Leu)
n.5169G>C
n.807G>C
14g.21393782C>TCA7090852CHD8c.5176G>A (p.Val1726Ile)
c.3713G>A
c.6013G>A (p.Val2005Ile)
n.5169G>A
n.807G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393783A>CCA484995486CHD8c.5175T>G (p.Pro1725=)
c.3712T>G
c.6012T>G (p.Pro2004=)
n.5168T>G
n.806T>G
14g.21393783A>GCA484995488CHD8c.5175T>C (p.Pro1725=)
c.3712T>C
c.6012T>C (p.Pro2004=)
n.5168T>C
n.806T>C
 gnomAD v4
14g.21393783A>TCA484995490CHD8c.5175T>A (p.Pro1725=)
c.3712T>A
c.6012T>A (p.Pro2004=)
n.5168T>A
n.806T>A
14g.21393784G>ACA388880597CHD8c.5174C>T (p.Pro1725Leu)
c.3711C>T
c.6011C>T (p.Pro2004Leu)
n.5167C>T
n.805C>T
 gnomAD v4
14g.21393784G>CCA388880598CHD8c.5174C>G (p.Pro1725Arg)
c.3711C>G
c.6011C>G (p.Pro2004Arg)
n.5167C>G
n.805C>G
14g.21393784G=CA2122484225CHD8c.5174C= (p.Pro1725=)
c.3711C=
c.6011C= (p.Pro2004=)
n.5167C=
n.805C=
14g.21393784G>TCA7090853CHD8c.5174C>A (p.Pro1725His)
c.3711C>A
c.6011C>A (p.Pro2004His)
n.5167C>A
n.805C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393785G>ACA388880601CHD8c.5173C>T (p.Pro1725Ser)
c.3710C>T
c.6010C>T (p.Pro2004Ser)
n.5166C>T
n.804C>T
 ClinVar gnomAD v4
14g.21393785G>CCA388880599CHD8c.5173C>G (p.Pro1725Ala)
c.3710C>G
c.6010C>G (p.Pro2004Ala)
n.5166C>G
n.804C>G
 gnomAD v4
14g.21393785G>TCA388880600CHD8c.5173C>A (p.Pro1725Thr)
c.3710C>A
c.6010C>A (p.Pro2004Thr)
n.5166C>A
n.804C>A
14g.21393786A>CCA484995504CHD8c.5172T>G (p.Ala1724=)
c.3709T>G
c.6009T>G (p.Ala2003=)
n.5165T>G
n.803T>G
14g.21393786A>GCA484995505CHD8c.5172T>C (p.Ala1724=)
c.3709T>C
c.6009T>C (p.Ala2003=)
n.5165T>C
n.803T>C
14g.21393786A>TCA484995506CHD8c.5172T>A (p.Ala1724=)
c.3709T>A
c.6009T>A (p.Ala2003=)
n.5165T>A
n.803T>A
14g.21393787G>ACA388880602CHD8c.5171C>T (p.Ala1724Val)
c.3708C>T
c.6008C>T (p.Ala2003Val)
n.5164C>T
n.802C>T
14g.21393787G>CCA10605444CHD8c.5171C>G (p.Ala1724Gly)
c.3708C>G
c.6008C>G (p.Ala2003Gly)
n.5164C>G
n.802C>G
 ClinVar dbSNP gnomAD v4
14g.21393787G=CA2122484239CHD8c.5171C= (p.Ala1724=)
c.3708C=
c.6008C= (p.Ala2003=)
n.5164C=
n.802C=
14g.21393787G>TCA388880603CHD8c.5171C>A (p.Ala1724Asp)
c.3708C>A
c.6008C>A (p.Ala2003Asp)
n.5164C>A
n.802C>A
14g.21393788C>ACA388880604CHD8c.5170G>T (p.Ala1724Ser)
c.3707G>T
c.6007G>T (p.Ala2003Ser)
n.5163G>T
n.801G>T
 gnomAD v4
14g.21393788C>GCA388880605CHD8c.5170G>C (p.Ala1724Pro)
c.3707G>C
c.6007G>C (p.Ala2003Pro)
n.5163G>C
n.801G>C
14g.21393788C>TCA388880606CHD8c.5170G>A (p.Ala1724Thr)
c.3707G>A
c.6007G>A (p.Ala2003Thr)
n.5163G>A
n.801G>A
14g.21393789A>CCA388880607CHD8c.5169T>G (p.Asp1723Glu)
c.3706T>G
c.6006T>G (p.Asp2002Glu)
n.5162T>G
n.800T>G
14g.21393789A>GCA484995514CHD8c.5169T>C (p.Asp1723=)
c.3706T>C
c.6006T>C (p.Asp2002=)
n.5162T>C
n.800T>C
14g.21393789A>TCA388880608CHD8c.5169T>A (p.Asp1723Glu)
c.3706T>A
c.6006T>A (p.Asp2002Glu)
n.5162T>A
n.800T>A
14g.21393790T>ACA388880609CHD8c.5168A>T (p.Asp1723Val)
c.3705A>T
c.6005A>T (p.Asp2002Val)
n.5161A>T
n.799A>T
 gnomAD v4
14g.21393790T>CCA388880610CHD8c.5168A>G (p.Asp1723Gly)
c.3705A>G
c.6005A>G (p.Asp2002Gly)
n.5161A>G
n.799A>G
 dbSNP gnomAD v3 gnomAD v4
14g.21393790T>GCA388880611CHD8c.5168A>C (p.Asp1723Ala)
c.3705A>C
c.6005A>C (p.Asp2002Ala)
n.5161A>C
n.799A>C
14g.21393790T=CA2122484243CHD8c.5168A= (p.Asp1723=)
c.3705A=
c.6005A= (p.Asp2002=)
n.5161A=
n.799A=
14g.21393791C>ACA388880612CHD8c.5167G>T (p.Asp1723Tyr)
c.3704G>T
c.6004G>T (p.Asp2002Tyr)
n.5160G>T
n.798G>T
14g.21393791C>GCA388880613CHD8c.5167G>C (p.Asp1723His)
c.3704G>C
c.6004G>C (p.Asp2002His)
n.5160G>C
n.798G>C
14g.21393791C>TCA388880614CHD8c.5167G>A (p.Asp1723Asn)
c.3704G>A
c.6004G>A (p.Asp2002Asn)
n.5160G>A
n.798G>A
14g.21393792T>ACA484995524CHD8c.5166A>T (p.Pro1722=)
c.3703A>T
c.6003A>T (p.Pro2001=)
n.5159A>T
n.797A>T
14g.21393792T>CCA484995525CHD8c.5166A>G (p.Pro1722=)
c.3703A>G
c.6003A>G (p.Pro2001=)
n.5159A>G
n.797A>G
14g.21393792T>GCA484995527CHD8c.5166A>C (p.Pro1722=)
c.3703A>C
c.6003A>C (p.Pro2001=)
n.5159A>C
n.797A>C
14g.21393793G>ACA388880615CHD8c.5165C>T (p.Pro1722Leu)
c.3702C>T
c.6002C>T (p.Pro2001Leu)
n.5158C>T
n.796C>T
 ClinVar
14g.21393793G>CCA388880616CHD8c.5165C>G (p.Pro1722Arg)
c.3702C>G
c.6002C>G (p.Pro2001Arg)
n.5158C>G
n.796C>G
14g.21393793G>TCA388880617CHD8c.5165C>A (p.Pro1722Gln)
c.3702C>A
c.6002C>A (p.Pro2001Gln)
n.5158C>A
n.796C>A
14g.21393795delCA2573149734CHD8c.5165del (p.Pro1722GlnfsTer22)
c.3702del
c.6002del (p.Pro2001GlnfsTer22)
n.5158del
n.796del
 ClinVar dbSNP
14g.21393794G>ACA388880620CHD8c.5164C>T (p.Pro1722Ser)
c.3701C>T
c.6001C>T (p.Pro2001Ser)
n.5157C>T
n.795C>T
14g.21393794G>CCA388880619CHD8c.5164C>G (p.Pro1722Ala)
c.3701C>G
c.6001C>G (p.Pro2001Ala)
n.5157C>G
n.795C>G
14g.21393794G>TCA388880618CHD8c.5164C>A (p.Pro1722Thr)
c.3701C>A
c.6001C>A (p.Pro2001Thr)
n.5157C>A
n.795C>A
14g.21393795G>ACA484995548CHD8c.5163C>T (p.Arg1721=)
c.3700C>T
c.6000C>T (p.Arg2000=)
n.5156C>T
n.794C>T
 dbSNP gnomAD v2 gnomAD v4
14g.21393795G>CCA484995553CHD8c.5163C>G (p.Arg1721=)
c.3700C>G
c.6000C>G (p.Arg2000=)
n.5156C>G
n.794C>G
14g.21393795G=CA2122484247CHD8c.5163C= (p.Arg1721=)
c.3700C=
c.6000C= (p.Arg2000=)
n.5156C=
n.794C=
14g.21393795G>TCA484995567CHD8c.5163C>A (p.Arg1721=)
c.3700C>A
c.6000C>A (p.Arg2000=)
n.5156C>A
n.794C>A
14g.21393796C>ACA388880621CHD8c.5162G>T (p.Arg1721Leu)
c.3699G>T
c.5999G>T (p.Arg2000Leu)
n.5155G>T
n.793G>T
14g.21393796C=CA2122484248CHD8c.5162G= (p.Arg1721=)
c.3699G=
c.5999G= (p.Arg2000=)
n.5155G=
n.793G=
14g.21393796C>GCA388880622CHD8c.5162G>C (p.Arg1721Pro)
c.3699G>C
c.5999G>C (p.Arg2000Pro)
n.5155G>C
n.793G>C
14g.21393796C>TCA7090854CHD8c.5162G>A (p.Arg1721His)
c.3699G>A
c.5999G>A (p.Arg2000His)
n.5155G>A
n.793G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393797G>ACA7090855CHD8c.5161C>T (p.Arg1721Cys)
c.3698C>T
c.5998C>T (p.Arg2000Cys)
n.5154C>T
n.792C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.21393797G>CCA388880623CHD8c.5161C>G (p.Arg1721Gly)
c.3698C>G
c.5998C>G (p.Arg2000Gly)
n.5154C>G
n.792C>G
14g.21393797G=CA2122484256CHD8c.5161C= (p.Arg1721=)
c.3698C=
c.5998C= (p.Arg2000=)
n.5154C=
n.792C=
14g.21393797G>TCA388880624CHD8c.5161C>A (p.Arg1721Ser)
c.3698C>A
c.5998C>A (p.Arg2000Ser)
n.5154C>A
n.792C>A
 gnomAD v4
14g.21393798C>ACA484995587CHD8c.5160G>T (p.Leu1720=)
c.3697G>T
c.5997G>T (p.Leu1999=)
n.5153G>T
n.791G>T
 gnomAD v4
14g.21393798C>GCA484995591CHD8c.5160G>C (p.Leu1720=)
c.3697G>C
c.5997G>C (p.Leu1999=)
n.5153G>C
n.791G>C
14g.21393798C>TCA484995589CHD8c.5160G>A (p.Leu1720=)
c.3697G>A
c.5997G>A (p.Leu1999=)
n.5153G>A
n.791G>A
14g.21393799A=CA2122484263CHD8c.5159T= (p.Leu1720=)
c.3696T=
c.5996T= (p.Leu1999=)
n.5152T=
n.790T=
14g.21393799A>CCA388880625CHD8c.5159T>G (p.Leu1720Arg)
c.3696T>G
c.5996T>G (p.Leu1999Arg)
n.5152T>G
n.790T>G
14g.21393799A>GCA388880626CHD8c.5159T>C (p.Leu1720Pro)
c.3696T>C
c.5996T>C (p.Leu1999Pro)
n.5152T>C
n.790T>C
 dbSNP
14g.21393799A>TCA388880627CHD8c.5159T>A (p.Leu1720Gln)
c.3696T>A
c.5996T>A (p.Leu1999Gln)
n.5152T>A
n.790T>A
14g.21393800G>ACA484995601CHD8c.5158C>T (p.Leu1720=)
c.3695C>T
c.5995C>T (p.Leu1999=)
n.5151C>T
n.789C>T
14g.21393800G>CCA388880628CHD8c.5158C>G (p.Leu1720Val)
c.3695C>G
c.5995C>G (p.Leu1999Val)
n.5151C>G
n.789C>G
14g.21393800G>TCA388880629CHD8c.5158C>A (p.Leu1720Met)
c.3695C>A
c.5995C>A (p.Leu1999Met)
n.5151C>A
n.789C>A
14g.21393801G>ACA484995612CHD8c.5157C>T (p.Pro1719=)
c.3694C>T
c.5994C>T (p.Pro1998=)
n.5150C>T
n.788C>T
 dbSNP gnomAD v4
14g.21393801G>CCA484995608CHD8c.5157C>G (p.Pro1719=)
c.3694C>G
c.5994C>G (p.Pro1998=)
n.5150C>G
n.788C>G
14g.21393801G=CA2122484270CHD8c.5157C= (p.Pro1719=)
c.3694C=
c.5994C= (p.Pro1998=)
n.5150C=
n.788C=
14g.21393801G>TCA484995611CHD8c.5157C>A (p.Pro1719=)
c.3694C>A
c.5994C>A (p.Pro1998=)
n.5150C>A
n.788C>A
14g.21393802G>ACA257593264CHD8c.5156C>T (p.Pro1719Leu)
c.3693C>T
c.5993C>T (p.Pro1998Leu)
n.5149C>T
n.787C>T
 dbSNP
14g.21393802G>CCA388880630CHD8c.5156C>G (p.Pro1719Arg)
c.3693C>G
c.5993C>G (p.Pro1998Arg)
n.5149C>G
n.787C>G
 ClinVar dbSNP gnomAD v4
14g.21393802G=CA2122484276CHD8c.5156C= (p.Pro1719=)
c.3693C=
c.5993C= (p.Pro1998=)
n.5149C=
n.787C=
14g.21393802G>TCA388880631CHD8c.5156C>A (p.Pro1719His)
c.3693C>A
c.5993C>A (p.Pro1998His)
n.5149C>A
n.787C>A
 gnomAD v4
14g.21393803G>ACA388880633CHD8c.5155C>T (p.Pro1719Ser)
c.3692C>T
c.5992C>T (p.Pro1998Ser)
n.5148C>T
n.786C>T
14g.21393803G>CCA388880634CHD8c.5155C>G (p.Pro1719Ala)
c.3692C>G
c.5992C>G (p.Pro1998Ala)
n.5148C>G
n.786C>G
14g.21393803G>TCA388880632CHD8c.5155C>A (p.Pro1719Thr)
c.3692C>A
c.5992C>A (p.Pro1998Thr)
n.5148C>A
n.786C>A
14g.21393804C>ACA484995622CHD8c.5154G>T (p.Leu1718=)
c.3691G>T
c.5991G>T (p.Leu1997=)
n.5147G>T
n.785G>T
14g.21393804C>GCA484995624CHD8c.5154G>C (p.Leu1718=)
c.3691G>C
c.5991G>C (p.Leu1997=)
n.5147G>C
n.785G>C
14g.21393804C>TCA484995628CHD8c.5154G>A (p.Leu1718=)
c.3691G>A
c.5991G>A (p.Leu1997=)
n.5147G>A
n.785G>A
14g.21393805A>CCA388880635CHD8c.5153T>G (p.Leu1718Arg)
c.3690T>G
c.5990T>G (p.Leu1997Arg)
n.5146T>G
n.784T>G
14g.21393805A>GCA388880636CHD8c.5153T>C (p.Leu1718Pro)
c.3690T>C
c.5990T>C (p.Leu1997Pro)
n.5146T>C
n.784T>C
14g.21393805A>TCA388880637CHD8c.5153T>A (p.Leu1718Gln)
c.3690T>A
c.5990T>A (p.Leu1997Gln)
n.5146T>A
n.784T>A
14g.21393806G>ACA484995640CHD8c.5152C>T (p.Leu1718=)
c.3689C>T
c.5989C>T (p.Leu1997=)
n.5145C>T
n.783C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
14g.21393806G>CCA388880638CHD8c.5152C>G (p.Leu1718Val)
c.3689C>G
c.5989C>G (p.Leu1997Val)
n.5145C>G
n.783C>G
14g.21393806G=CA2122484284CHD8c.5152C= (p.Leu1718=)
c.3689C=
c.5989C= (p.Leu1997=)
n.5145C=
n.783C=
14g.21393806G>TCA388880639CHD8c.5152C>A (p.Leu1718Met)
c.3689C>A
c.5989C>A (p.Leu1997Met)
n.5145C>A
n.783C>A
14g.21393807T>ACA484995644CHD8c.5151A>T (p.Pro1717=)
c.3688A>T
c.5988A>T (p.Pro1996=)
n.5144A>T
n.782A>T
14g.21393807T>CCA257593272CHD8c.5151A>G (p.Pro1717=)
c.3688A>G
c.5988A>G (p.Pro1996=)
n.5144A>G
n.782A>G
 dbSNP gnomAD v3 gnomAD v4
14g.21393807T>GCA484995647CHD8c.5151A>C (p.Pro1717=)
c.3688A>C
c.5988A>C (p.Pro1996=)
n.5144A>C
n.782A>C
14g.21393807T=CA2122484287CHD8c.5151A= (p.Pro1717=)
c.3688A=
c.5988A= (p.Pro1996=)
n.5144A=
n.782A=
14g.21393808G>ACA388880642CHD8c.5150C>T (p.Pro1717Leu)
c.3687C>T
c.5987C>T (p.Pro1996Leu)
n.5143C>T
n.781C>T
14g.21393808G>CCA388880641CHD8c.5150C>G (p.Pro1717Arg)
c.3687C>G
c.5987C>G (p.Pro1996Arg)
n.5143C>G
n.781C>G
14g.21393808G>TCA388880640CHD8c.5150C>A (p.Pro1717Gln)
c.3687C>A
c.5987C>A (p.Pro1996Gln)
n.5143C>A
n.781C>A
14g.21393809G>ACA388880643CHD8c.5149C>T (p.Pro1717Ser)
c.3686C>T
c.5986C>T (p.Pro1996Ser)
n.5142C>T
n.780C>T
 gnomAD v4
14g.21393809G>CCA388880644CHD8c.5149C>G (p.Pro1717Ala)
c.3686C>G
c.5986C>G (p.Pro1996Ala)
n.5142C>G
n.780C>G
14g.21393809G>TCA388880645CHD8c.5149C>A (p.Pro1717Thr)
c.3686C>A
c.5986C>A (p.Pro1996Thr)
n.5142C>A
n.780C>A
 COSMIC COSMIC
14g.21393815_21393826delCA2624078780CHD8c.5138_5149del (p.Arg1713_Ser1716del)
c.3675_3686del
c.5975_5986del (p.Arg1992_Ser1995del)
n.5131_5142del
n.769_780del
 gnomAD v4
14g.21393810T>ACA484995656CHD8c.5148A>T (p.Ser1716=)
c.3685A>T
c.5985A>T (p.Ser1995=)
n.5141A>T
n.779A>T
14g.21393810T>CCA484995660CHD8c.5148A>G (p.Ser1716=)
c.3685A>G
c.5985A>G (p.Ser1995=)
n.5141A>G
n.779A>G
14g.21393810T>GCA484995657CHD8c.5148A>C (p.Ser1716=)
c.3685A>C
c.5985A>C (p.Ser1995=)
n.5141A>C
n.779A>C
14g.21393811G>ACA388880646CHD8c.5147C>T (p.Ser1716Leu)
c.3684C>T
c.5984C>T (p.Ser1995Leu)
n.5140C>T
n.778C>T
14g.21393811G>CCA388880647CHD8c.5147C>G (p.Ser1716Ter)
c.3684C>G
c.5984C>G (p.Ser1995Ter)
n.5140C>G
n.778C>G
14g.21393811G>TCA388880648CHD8c.5147C>A (p.Ser1716Ter)
c.3684C>A
c.5984C>A (p.Ser1995Ter)
n.5140C>A
n.778C>A
14g.21393812A=CA2122484321CHD8c.5146T= (p.Ser1716=)
c.3683T=
c.5983T= (p.Ser1995=)
n.5139T=
n.777T=
14g.21393812A>CCA388880649CHD8c.5146T>G (p.Ser1716Ala)
c.3683T>G
c.5983T>G (p.Ser1995Ala)
n.5139T>G
n.777T>G
14g.21393812A>GCA388880650CHD8c.5146T>C (p.Ser1716Pro)
c.3683T>C
c.5983T>C (p.Ser1995Pro)
n.5139T>C
n.777T>C
14g.21393812A>TCA257593297CHD8c.5146T>A (p.Ser1716Thr)
c.3683T>A
c.5983T>A (p.Ser1995Thr)
n.5139T>A
n.777T>A
 dbSNP
14g.21393813G>ACA484995673CHD8c.5145C>T (p.Ala1715=)
c.3682C>T
c.5982C>T (p.Ala1994=)
n.5138C>T
n.776C>T
 dbSNP
14g.21393813G>CCA484995674CHD8c.5145C>G (p.Ala1715=)
c.3682C>G
c.5982C>G (p.Ala1994=)
n.5138C>G
n.776C>G
14g.21393813G=CA2122484322CHD8c.5145C= (p.Ala1715=)
c.3682C=
c.5982C= (p.Ala1994=)
n.5138C=
n.776C=
14g.21393813G>TCA484995675CHD8c.5145C>A (p.Ala1715=)
c.3682C>A
c.5982C>A (p.Ala1994=)
n.5138C>A
n.776C>A
14g.21393814G>ACA7090856CHD8c.5144C>T (p.Ala1715Val)
c.3681C>T
c.5981C>T (p.Ala1994Val)
n.5137C>T
n.775C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393814G>CCA388880651CHD8c.5144C>G (p.Ala1715Gly)
c.3681C>G
c.5981C>G (p.Ala1994Gly)
n.5137C>G
n.775C>G
14g.21393814G=CA2122484324CHD8c.5144C= (p.Ala1715=)
c.3681C=
c.5981C= (p.Ala1994=)
n.5137C=
n.775C=
14g.21393814G>TCA388880652CHD8c.5144C>A (p.Ala1715Asp)
c.3681C>A
c.5981C>A (p.Ala1994Asp)
n.5137C>A
n.775C>A
14g.21393815C>ACA388880653CHD8c.5143G>T (p.Ala1715Ser)
c.3680G>T
c.5980G>T (p.Ala1994Ser)
n.5136G>T
n.774G>T
14g.21393815C>GCA388880654CHD8c.5143G>C (p.Ala1715Pro)
c.3680G>C
c.5980G>C (p.Ala1994Pro)
n.5136G>C
n.774G>C
14g.21393815C>TCA388880655CHD8c.5143G>A (p.Ala1715Thr)
c.3680G>A
c.5980G>A (p.Ala1994Thr)
n.5136G>A
n.774G>A
 gnomAD v4
14g.21393816A=CA2122484329CHD8c.5142T= (p.Thr1714=)
c.3679T=
c.5979T= (p.Thr1993=)
n.5135T=
c.5985T= (p.Thr1995=)
n.773T=
14g.21393816A>CCA484995683CHD8c.5142T>G (p.Thr1714=)
c.3679T>G
c.5979T>G (p.Thr1993=)
n.5135T>G
c.5985T>G (p.Thr1995=)
n.773T>G
14g.21393816A>GCA7090857CHD8c.5142T>C (p.Thr1714=)
c.3679T>C
c.5979T>C (p.Thr1993=)
n.5135T>C
c.5985T>C (p.Thr1995=)
n.773T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393816A>TCA484995686CHD8c.5142T>A (p.Thr1714=)
c.3679T>A
c.5979T>A (p.Thr1993=)
n.5135T>A
c.5985T>A (p.Thr1995=)
n.773T>A
14g.21393817G>ACA388880656CHD8c.5141C>T (p.Thr1714Ile)
c.3678C>T
c.5978C>T (p.Thr1993Ile)
n.5134C>T
c.5984C>T (p.Thr1995Ile)
n.772C>T
14g.21393817G>CCA388880657CHD8c.5141C>G (p.Thr1714Ser)
c.3678C>G
c.5978C>G (p.Thr1993Ser)
n.5134C>G
c.5984C>G (p.Thr1995Ser)
n.772C>G
 gnomAD v4
14g.21393817G>TCA388880658CHD8c.5141C>A (p.Thr1714Asn)
c.3678C>A
c.5978C>A (p.Thr1993Asn)
n.5134C>A
c.5984C>A (p.Thr1995Asn)
n.772C>A
14g.21393818T>ACA388880659CHD8c.5140A>T (p.Thr1714Ser)
c.3677A>T
c.5977A>T (p.Thr1993Ser)
n.5133A>T
c.5983A>T (p.Thr1995Ser)
n.771A>T
14g.21393818T>CCA7090858CHD8c.5140A>G (p.Thr1714Ala)
c.3677A>G
c.5977A>G (p.Thr1993Ala)
n.5133A>G
c.5983A>G (p.Thr1995Ala)
n.771A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393818T>GCA388880660CHD8c.5140A>C (p.Thr1714Pro)
c.3677A>C
c.5977A>C (p.Thr1993Pro)
n.5133A>C
c.5983A>C (p.Thr1995Pro)
n.771A>C
14g.21393818T=CA2122484330CHD8c.5140A= (p.Thr1714=)
c.3677A=
c.5977A= (p.Thr1993=)
n.5133A=
c.5983A= (p.Thr1995=)
n.771A=
14g.21393819G>ACA484995203CHD8c.5139C>T (p.Arg1713=)
c.3676C>T
c.5976C>T (p.Arg1992=)
n.5132C>T
c.5982C>T (p.Arg1994=)
n.770C>T
14g.21393819G>CCA484995204CHD8c.5139C>G (p.Arg1713=)
c.3676C>G
c.5976C>G (p.Arg1992=)
n.5132C>G
c.5982C>G (p.Arg1994=)
n.770C>G
14g.21393819G>TCA484995205CHD8c.5139C>A (p.Arg1713=)
c.3676C>A
c.5976C>A (p.Arg1992=)
n.5132C>A
c.5982C>A (p.Arg1994=)
n.770C>A
14g.21393820C>ACA7090860CHD8c.5138G>T (p.Arg1713Leu)
c.3675G>T
c.5975G>T (p.Arg1992Leu)
n.5131G>T
c.5981G>T (p.Arg1994Leu)
n.769G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393820C=CA2122484337CHD8c.5138G= (p.Arg1713=)
c.3675G=
c.5975G= (p.Arg1992=)
n.5131G=
c.5981G= (p.Arg1994=)
n.769G=
14g.21393820C>GCA388880661CHD8c.5138G>C (p.Arg1713Pro)
c.3675G>C
c.5975G>C (p.Arg1992Pro)
n.5131G>C
c.5981G>C (p.Arg1994Pro)
n.769G>C
14g.21393820C>TCA7090859CHD8c.5138G>A (p.Arg1713His)
c.3675G>A
c.5975G>A (p.Arg1992His)
n.5131G>A
c.5981G>A (p.Arg1994His)
n.769G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.21393821G>ACA7090861CHD8c.5137C>T (p.Arg1713Cys)
c.3674C>T
c.5974C>T (p.Arg1992Cys)
n.5130C>T
c.5980C>T (p.Arg1994Cys)
n.768C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393821G>CCA7090862CHD8c.5137C>G (p.Arg1713Gly)
c.3674C>G
c.5974C>G (p.Arg1992Gly)
n.5130C>G
c.5980C>G (p.Arg1994Gly)
n.768C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393821G=CA2122484341CHD8c.5137C= (p.Arg1713=)
c.3674C=
c.5974C= (p.Arg1992=)
n.5130C=
c.5980C= (p.Arg1994=)
n.768C=
14g.21393821G>TCA388880662CHD8c.5137C>A (p.Arg1713Ser)
c.3674C>A
c.5974C>A (p.Arg1992Ser)
n.5130C>A
c.5980C>A (p.Arg1994Ser)
n.768C>A
14g.21393822T>ACA484995211CHD8c.5136A>T (p.Ser1712=)
c.3673A>T
c.5973A>T (p.Ser1991=)
n.5129A>T
c.5979A>T (p.Ser1993=)
n.767A>T
14g.21393822T>CCA484995215CHD8c.5136A>G (p.Ser1712=)
c.3673A>G
c.5973A>G (p.Ser1991=)
n.5129A>G
c.5979A>G (p.Ser1993=)
n.767A>G
14g.21393822T>GCA484995213CHD8c.5136A>C (p.Ser1712=)
c.3673A>C
c.5973A>C (p.Ser1991=)
n.5129A>C
c.5979A>C (p.Ser1993=)
n.767A>C
14g.21393823G>ACA388880663CHD8c.5135C>T (p.Ser1712Leu)
c.3672C>T
c.5972C>T (p.Ser1991Leu)
n.5128C>T
c.5978C>T (p.Ser1993Leu)
n.766C>T
14g.21393823G>CCA388880664CHD8c.5135C>G (p.Ser1712Ter)
c.3672C>G
c.5972C>G (p.Ser1991Ter)
n.5128C>G
c.5978C>G (p.Ser1993Ter)
n.766C>G
14g.21393823G>TCA388880665CHD8c.5135C>A (p.Ser1712Ter)
c.3672C>A
c.5972C>A (p.Ser1991Ter)
n.5128C>A
c.5978C>A (p.Ser1993Ter)
n.766C>A
14g.21393824A>CCA388880666CHD8c.5134T>G (p.Ser1712Ala)
c.3671T>G
c.5971T>G (p.Ser1991Ala)
n.5127T>G
c.5977T>G (p.Ser1993Ala)
n.765T>G
 gnomAD v4
14g.21393824A>GCA388880667CHD8c.5134T>C (p.Ser1712Pro)
c.3671T>C
c.5971T>C (p.Ser1991Pro)
n.5127T>C
c.5977T>C (p.Ser1993Pro)
n.765T>C
14g.21393824A>TCA388880668CHD8c.5134T>A (p.Ser1712Thr)
c.3671T>A
c.5971T>A (p.Ser1991Thr)
n.5127T>A
c.5977T>A (p.Ser1993Thr)
n.765T>A
14g.21393825G>ACA484995227CHD8c.5133C>T (p.Thr1711=)
c.3670C>T
c.5970C>T (p.Thr1990=)
n.5126C>T
c.5976C>T (p.Thr1992=)
n.764C>T
 gnomAD v4
14g.21393825G>CCA484995225CHD8c.5133C>G (p.Thr1711=)
c.3670C>G
c.5970C>G (p.Thr1990=)
n.5126C>G
c.5976C>G (p.Thr1992=)
n.764C>G
 dbSNP gnomAD v4
14g.21393825G=CA2122484347CHD8c.5133C= (p.Thr1711=)
c.3670C=
c.5970C= (p.Thr1990=)
n.5126C=
c.5976C= (p.Thr1992=)
n.764C=
14g.21393825G>TCA484995226CHD8c.5133C>A (p.Thr1711=)
c.3670C>A
c.5970C>A (p.Thr1990=)
n.5126C>A
c.5976C>A (p.Thr1992=)
n.764C>A
14g.21393826G>ACA388880669CHD8c.5132C>T (p.Thr1711Ile)
c.3669C>T
c.5969C>T (p.Thr1990Ile)
n.5125C>T
c.5975C>T (p.Thr1992Ile)
n.763C>T
14g.21393826G>CCA388880670CHD8c.5132C>G (p.Thr1711Ser)
c.3669C>G
c.5969C>G (p.Thr1990Ser)
n.5125C>G
c.5975C>G (p.Thr1992Ser)
n.763C>G
 gnomAD v4
14g.21393826G>TCA388880671CHD8c.5132C>A (p.Thr1711Asn)
c.3669C>A
c.5969C>A (p.Thr1990Asn)
n.5125C>A
c.5975C>A (p.Thr1992Asn)
n.763C>A
14g.21393827T>ACA388880674CHD8c.5131A>T (p.Thr1711Ser)
c.3668A>T
c.5968A>T (p.Thr1990Ser)
n.5124A>T
c.5974A>T (p.Thr1992Ser)
n.762A>T
14g.21393827T>CCA388880672CHD8c.5131A>G (p.Thr1711Ala)
c.3668A>G
c.5968A>G (p.Thr1990Ala)
n.5124A>G
c.5974A>G (p.Thr1992Ala)
n.762A>G
14g.21393827T>GCA388880673CHD8c.5131A>C (p.Thr1711Pro)
c.3668A>C
c.5968A>C (p.Thr1990Pro)
n.5124A>C
c.5974A>C (p.Thr1992Pro)
n.762A>C

Number of alleles fetched