Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.21393712T>ACA388880443CHD8c.5246A>T (p.His1749Leu)
c.3783A>T
c.6083A>T (p.His2028Leu)
n.5239A>T
n.877A>T
14g.21393712T>CCA388880444CHD8c.5246A>G (p.His1749Arg)
c.3783A>G
c.6083A>G (p.His2028Arg)
n.5239A>G
n.877A>G
14g.21393712T>GCA388880445CHD8c.5246A>C (p.His1749Pro)
c.3783A>C
c.6083A>C (p.His2028Pro)
n.5239A>C
n.877A>C
14g.21393713G>ACA388880446CHD8c.5245C>T (p.His1749Tyr)
c.3782C>T
c.6082C>T (p.His2028Tyr)
n.5238C>T
n.876C>T
 gnomAD v4
14g.21393713G>CCA388880447CHD8c.5245C>G (p.His1749Asp)
c.3782C>G
c.6082C>G (p.His2028Asp)
n.5238C>G
n.876C>G
14g.21393713G>TCA388880448CHD8c.5245C>A (p.His1749Asn)
c.3782C>A
c.6082C>A (p.His2028Asn)
n.5238C>A
n.876C>A
14g.21393714C>ACA388880449CHD8c.5244G>T (p.Glu1748Asp)
c.3781G>T
c.6081G>T (p.Glu2027Asp)
n.5237G>T
n.875G>T
14g.21393714C>GCA388880450CHD8c.5244G>C (p.Glu1748Asp)
c.3781G>C
c.6081G>C (p.Glu2027Asp)
n.5237G>C
n.875G>C
14g.21393714C>TCA484995216CHD8c.5244G>A (p.Glu1748=)
c.3781G>A
c.6081G>A (p.Glu2027=)
n.5237G>A
n.875G>A
 ClinVar
14g.21393715T>ACA388880451CHD8c.5243A>T (p.Glu1748Val)
c.3780A>T
c.6080A>T (p.Glu2027Val)
n.5236A>T
n.874A>T
14g.21393715T>CCA388880452CHD8c.5243A>G (p.Glu1748Gly)
c.3780A>G
c.6080A>G (p.Glu2027Gly)
n.5236A>G
n.874A>G
14g.21393715T>GCA388880453CHD8c.5243A>C (p.Glu1748Ala)
c.3780A>C
c.6080A>C (p.Glu2027Ala)
n.5236A>C
n.874A>C
14g.21393716C>ACA388880455CHD8c.5242G>T (p.Glu1748Ter)
c.3779G>T
c.6079G>T (p.Glu2027Ter)
n.5235G>T
n.873G>T
 dbSNP
14g.21393716C=CA2122484068CHD8c.5242G= (p.Glu1748=)
c.3779G=
c.6079G= (p.Glu2027=)
n.5235G=
n.873G=
14g.21393716C>GCA388880456CHD8c.5242G>C (p.Glu1748Gln)
c.3779G>C
c.6079G>C (p.Glu2027Gln)
n.5235G>C
n.873G>C
14g.21393716C>TCA388880454CHD8c.5242G>A (p.Glu1748Lys)
c.3779G>A
c.6079G>A (p.Glu2027Lys)
n.5235G>A
n.873G>A
14g.21393717T>ACA484995223CHD8c.5241A>T (p.Leu1747=)
c.3778A>T
c.6078A>T (p.Leu2026=)
n.5234A>T
n.872A>T
14g.21393717T>CCA484995224CHD8c.5241A>G (p.Leu1747=)
c.3778A>G
c.6078A>G (p.Leu2026=)
n.5234A>G
n.872A>G
14g.21393717T>GCA484995229CHD8c.5241A>C (p.Leu1747=)
c.3778A>C
c.6078A>C (p.Leu2026=)
n.5234A>C
n.872A>C
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.21393718A>CCA388880457CHD8c.5240T>G (p.Leu1747Arg)
c.3777T>G
c.6077T>G (p.Leu2026Arg)
n.5233T>G
n.871T>G
14g.21393718A>GCA388880458CHD8c.5240T>C (p.Leu1747Pro)
c.3777T>C
c.6077T>C (p.Leu2026Pro)
n.5233T>C
n.871T>C
 ClinVar
14g.21393718A>TCA388880459CHD8c.5240T>A (p.Leu1747Gln)
c.3777T>A
c.6077T>A (p.Leu2026Gln)
n.5233T>A
n.871T>A
14g.21393719G>ACA484995231CHD8c.5239C>T (p.Leu1747=)
c.3776C>T
c.6076C>T (p.Leu2026=)
n.5232C>T
n.870C>T
14g.21393719G>CCA388880460CHD8c.5239C>G (p.Leu1747Val)
c.3776C>G
c.6076C>G (p.Leu2026Val)
n.5232C>G
n.870C>G
14g.21393719G>TCA388880461CHD8c.5239C>A (p.Leu1747Ile)
c.3776C>A
c.6076C>A (p.Leu2026Ile)
n.5232C>A
n.870C>A
14g.21393720C>ACA388880462CHD8c.5238G>T (p.Lys1746Asn)
c.3775G>T
c.6075G>T (p.Lys2025Asn)
n.5231G>T
n.869G>T
14g.21393720C>GCA388880463CHD8c.5238G>C (p.Lys1746Asn)
c.3775G>C
c.6075G>C (p.Lys2025Asn)
n.5231G>C
n.869G>C
14g.21393720C>TCA484995233CHD8c.5238G>A (p.Lys1746=)
c.3775G>A
c.6075G>A (p.Lys2025=)
n.5231G>A
n.869G>A
14g.21393721T>ACA388880464CHD8c.5237A>T (p.Lys1746Met)
c.3774A>T
c.6074A>T (p.Lys2025Met)
n.5230A>T
n.868A>T
14g.21393721T>CCA388880465CHD8c.5237A>G (p.Lys1746Arg)
c.3774A>G
c.6074A>G (p.Lys2025Arg)
n.5230A>G
n.868A>G
14g.21393721T>GCA388880466CHD8c.5237A>C (p.Lys1746Thr)
c.3774A>C
c.6074A>C (p.Lys2025Thr)
n.5230A>C
n.868A>C
14g.21393722T>ACA388880467CHD8c.5236A>T (p.Lys1746Ter)
c.3773A>T
c.6073A>T (p.Lys2025Ter)
n.5229A>T
n.867A>T
 dbSNP
14g.21393722T>CCA388880468CHD8c.5236A>G (p.Lys1746Glu)
c.3773A>G
c.6073A>G (p.Lys2025Glu)
n.5229A>G
n.867A>G
14g.21393722T>GCA388880469CHD8c.5236A>C (p.Lys1746Gln)
c.3773A>C
c.6073A>C (p.Lys2025Gln)
n.5229A>C
n.867A>C
14g.21393722T=CA2122484072CHD8c.5236A= (p.Lys1746=)
c.3773A=
c.6073A= (p.Lys2025=)
n.5229A=
n.867A=
14g.21393723T>ACA388880471CHD8c.5235A>T (p.Leu1745Phe)
c.3772A>T
c.6072A>T (p.Leu2024Phe)
n.5228A>T
n.866A>T
14g.21393723T>CCA484995237CHD8c.5235A>G (p.Leu1745=)
c.3772A>G
c.6072A>G (p.Leu2024=)
n.5228A>G
n.866A>G
 gnomAD v4
14g.21393723T>GCA388880470CHD8c.5235A>C (p.Leu1745Phe)
c.3772A>C
c.6072A>C (p.Leu2024Phe)
n.5228A>C
n.866A>C
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

Number of alleles fetched