Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.21393719_21393724delCA2624078745CHD8c.5236_5241del (p.Lys1746_Leu1747del)
c.3773_3778del
c.6073_6078del (p.Lys2025_Leu2026del)
n.5229_5234del
n.867_872del
 gnomAD v4
14g.21393724A=CA2122484082CHD8c.5234T= (p.Leu1745=)
c.3771T=
c.6071T= (p.Leu2024=)
n.5227T=
n.865T=
14g.21393724A>CCA388880472CHD8c.5234T>G (p.Leu1745Ter)
c.3771T>G
c.6071T>G (p.Leu2024Ter)
n.5227T>G
n.865T>G
14g.21393724A>GCA388880473CHD8c.5234T>C (p.Leu1745Ser)
c.3771T>C
c.6071T>C (p.Leu2024Ser)
n.5227T>C
n.865T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21393724A>TCA388880474CHD8c.5234T>A (p.Leu1745Ter)
c.3771T>A
c.6071T>A (p.Leu2024Ter)
n.5227T>A
n.865T>A
14g.21393725A>CCA388880475CHD8c.5233T>G (p.Leu1745Val)
c.3770T>G
c.6070T>G (p.Leu2024Val)
n.5226T>G
n.864T>G
14g.21393725A>GCA484995240CHD8c.5233T>C (p.Leu1745=)
c.3770T>C
c.6070T>C (p.Leu2024=)
n.5226T>C
n.864T>C
14g.21393725A>TCA388880476CHD8c.5233T>A (p.Leu1745Ile)
c.3770T>A
c.6070T>A (p.Leu2024Ile)
n.5226T>A
n.864T>A
14g.21393726A>CCA484995246CHD8c.5232T>G (p.Thr1744=)
c.3769T>G
c.6069T>G (p.Thr2023=)
n.5225T>G
n.863T>G
14g.21393726A>GCA484995248CHD8c.5232T>C (p.Thr1744=)
c.3769T>C
c.6069T>C (p.Thr2023=)
n.5225T>C
n.863T>C
14g.21393726A>TCA484995247CHD8c.5232T>A (p.Thr1744=)
c.3769T>A
c.6069T>A (p.Thr2023=)
n.5225T>A
n.863T>A
 gnomAD v4
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

Number of alleles fetched