Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.21393710C>A | CA388880440 | CHD8 | c.5248G>T (p.Glu1750Ter) c.3785G>T c.6085G>T (p.Glu2029Ter) n.5241G>T n.879G>T | dbSNP |
14 | g.21393710C= | CA2122484061 | CHD8 | c.5248G= (p.Glu1750=) c.3785G= c.6085G= (p.Glu2029=) n.5241G= n.879G= | |
14 | g.21393710C>G | CA388880439 | CHD8 | c.5248G>C (p.Glu1750Gln) c.3785G>C c.6085G>C (p.Glu2029Gln) n.5241G>C n.879G>C | |
14 | g.21393710C>T | CA243736 | CHD8 | c.5248G>A (p.Glu1750Lys) c.3785G>A c.6085G>A (p.Glu2029Lys) n.5241G>A n.879G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393711G>A | CA7090842 | CHD8 | c.5247C>T (p.His1749=) c.3784C>T c.6084C>T (p.His2028=) n.5240C>T n.878C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393711G>C | CA388880441 | CHD8 | c.5247C>G (p.His1749Gln) c.3784C>G c.6084C>G (p.His2028Gln) n.5240C>G n.878C>G | |
14 | g.21393711G= | CA2122484063 | CHD8 | c.5247C= (p.His1749=) c.3784C= c.6084C= (p.His2028=) n.5240C= n.878C= | |
14 | g.21393711G>T | CA388880442 | CHD8 | c.5247C>A (p.His1749Gln) c.3784C>A c.6084C>A (p.His2028Gln) n.5240C>A n.878C>A | |
14 | g.21393712T>A | CA388880443 | CHD8 | c.5246A>T (p.His1749Leu) c.3783A>T c.6083A>T (p.His2028Leu) n.5239A>T n.877A>T | |
14 | g.21393712T>C | CA388880444 | CHD8 | c.5246A>G (p.His1749Arg) c.3783A>G c.6083A>G (p.His2028Arg) n.5239A>G n.877A>G | |
14 | g.21393712T>G | CA388880445 | CHD8 | c.5246A>C (p.His1749Pro) c.3783A>C c.6083A>C (p.His2028Pro) n.5239A>C n.877A>C | |
14 | g.21393713G>A | CA388880446 | CHD8 | c.5245C>T (p.His1749Tyr) c.3782C>T c.6082C>T (p.His2028Tyr) n.5238C>T n.876C>T | gnomAD v4 |
14 | g.21393713G>C | CA388880447 | CHD8 | c.5245C>G (p.His1749Asp) c.3782C>G c.6082C>G (p.His2028Asp) n.5238C>G n.876C>G | |
14 | g.21393713G>T | CA388880448 | CHD8 | c.5245C>A (p.His1749Asn) c.3782C>A c.6082C>A (p.His2028Asn) n.5238C>A n.876C>A | |
14 | g.21393714C>A | CA388880449 | CHD8 | c.5244G>T (p.Glu1748Asp) c.3781G>T c.6081G>T (p.Glu2027Asp) n.5237G>T n.875G>T | |
14 | g.21393714C>G | CA388880450 | CHD8 | c.5244G>C (p.Glu1748Asp) c.3781G>C c.6081G>C (p.Glu2027Asp) n.5237G>C n.875G>C | |
14 | g.21393714C>T | CA484995216 | CHD8 | c.5244G>A (p.Glu1748=) c.3781G>A c.6081G>A (p.Glu2027=) n.5237G>A n.875G>A | ClinVar |
14 | g.21393715T>A | CA388880451 | CHD8 | c.5243A>T (p.Glu1748Val) c.3780A>T c.6080A>T (p.Glu2027Val) n.5236A>T n.874A>T | |
14 | g.21393715T>C | CA388880452 | CHD8 | c.5243A>G (p.Glu1748Gly) c.3780A>G c.6080A>G (p.Glu2027Gly) n.5236A>G n.874A>G | |
14 | g.21393715T>G | CA388880453 | CHD8 | c.5243A>C (p.Glu1748Ala) c.3780A>C c.6080A>C (p.Glu2027Ala) n.5236A>C n.874A>C | |
14 | g.21393716C>A | CA388880455 | CHD8 | c.5242G>T (p.Glu1748Ter) c.3779G>T c.6079G>T (p.Glu2027Ter) n.5235G>T n.873G>T | dbSNP |
14 | g.21393716C= | CA2122484068 | CHD8 | c.5242G= (p.Glu1748=) c.3779G= c.6079G= (p.Glu2027=) n.5235G= n.873G= | |
14 | g.21393716C>G | CA388880456 | CHD8 | c.5242G>C (p.Glu1748Gln) c.3779G>C c.6079G>C (p.Glu2027Gln) n.5235G>C n.873G>C | |
14 | g.21393716C>T | CA388880454 | CHD8 | c.5242G>A (p.Glu1748Lys) c.3779G>A c.6079G>A (p.Glu2027Lys) n.5235G>A n.873G>A | |
14 | g.21393717T>A | CA484995223 | CHD8 | c.5241A>T (p.Leu1747=) c.3778A>T c.6078A>T (p.Leu2026=) n.5234A>T n.872A>T | |
14 | g.21393717T>C | CA484995224 | CHD8 | c.5241A>G (p.Leu1747=) c.3778A>G c.6078A>G (p.Leu2026=) n.5234A>G n.872A>G | |
14 | g.21393717T>G | CA484995229 | CHD8 | c.5241A>C (p.Leu1747=) c.3778A>C c.6078A>C (p.Leu2026=) n.5234A>C n.872A>C | |
14 | g.21393719_21393724del | CA2624078745 | CHD8 | c.5236_5241del (p.Lys1746_Leu1747del) c.3773_3778del c.6073_6078del (p.Lys2025_Leu2026del) n.5229_5234del n.867_872del | gnomAD v4 |
14 | g.21393718A>C | CA388880457 | CHD8 | c.5240T>G (p.Leu1747Arg) c.3777T>G c.6077T>G (p.Leu2026Arg) n.5233T>G n.871T>G | |
14 | g.21393718A>G | CA388880458 | CHD8 | c.5240T>C (p.Leu1747Pro) c.3777T>C c.6077T>C (p.Leu2026Pro) n.5233T>C n.871T>C | ClinVar |
14 | g.21393718A>T | CA388880459 | CHD8 | c.5240T>A (p.Leu1747Gln) c.3777T>A c.6077T>A (p.Leu2026Gln) n.5233T>A n.871T>A | |
14 | g.21393719G>A | CA484995231 | CHD8 | c.5239C>T (p.Leu1747=) c.3776C>T c.6076C>T (p.Leu2026=) n.5232C>T n.870C>T | |
14 | g.21393719G>C | CA388880460 | CHD8 | c.5239C>G (p.Leu1747Val) c.3776C>G c.6076C>G (p.Leu2026Val) n.5232C>G n.870C>G | |
14 | g.21393719G>T | CA388880461 | CHD8 | c.5239C>A (p.Leu1747Ile) c.3776C>A c.6076C>A (p.Leu2026Ile) n.5232C>A n.870C>A | |
14 | g.21393720C>A | CA388880462 | CHD8 | c.5238G>T (p.Lys1746Asn) c.3775G>T c.6075G>T (p.Lys2025Asn) n.5231G>T n.869G>T | |
14 | g.21393720C>G | CA388880463 | CHD8 | c.5238G>C (p.Lys1746Asn) c.3775G>C c.6075G>C (p.Lys2025Asn) n.5231G>C n.869G>C | |
14 | g.21393720C>T | CA484995233 | CHD8 | c.5238G>A (p.Lys1746=) c.3775G>A c.6075G>A (p.Lys2025=) n.5231G>A n.869G>A | |
14 | g.21393721T>A | CA388880464 | CHD8 | c.5237A>T (p.Lys1746Met) c.3774A>T c.6074A>T (p.Lys2025Met) n.5230A>T n.868A>T | |
14 | g.21393721T>C | CA388880465 | CHD8 | c.5237A>G (p.Lys1746Arg) c.3774A>G c.6074A>G (p.Lys2025Arg) n.5230A>G n.868A>G | |
14 | g.21393721T>G | CA388880466 | CHD8 | c.5237A>C (p.Lys1746Thr) c.3774A>C c.6074A>C (p.Lys2025Thr) n.5230A>C n.868A>C | |
14 | g.21393722T>A | CA388880467 | CHD8 | c.5236A>T (p.Lys1746Ter) c.3773A>T c.6073A>T (p.Lys2025Ter) n.5229A>T n.867A>T | dbSNP |
14 | g.21393722T>C | CA388880468 | CHD8 | c.5236A>G (p.Lys1746Glu) c.3773A>G c.6073A>G (p.Lys2025Glu) n.5229A>G n.867A>G | |
14 | g.21393722T>G | CA388880469 | CHD8 | c.5236A>C (p.Lys1746Gln) c.3773A>C c.6073A>C (p.Lys2025Gln) n.5229A>C n.867A>C | |
14 | g.21393722T= | CA2122484072 | CHD8 | c.5236A= (p.Lys1746=) c.3773A= c.6073A= (p.Lys2025=) n.5229A= n.867A= | |
14 | g.21393723T>A | CA388880471 | CHD8 | c.5235A>T (p.Leu1745Phe) c.3772A>T c.6072A>T (p.Leu2024Phe) n.5228A>T n.866A>T | |
14 | g.21393723T>C | CA484995237 | CHD8 | c.5235A>G (p.Leu1745=) c.3772A>G c.6072A>G (p.Leu2024=) n.5228A>G n.866A>G | gnomAD v4 |
14 | g.21393723T>G | CA388880470 | CHD8 | c.5235A>C (p.Leu1745Phe) c.3772A>C c.6072A>C (p.Leu2024Phe) n.5228A>C n.866A>C | |
14 | g.21393724A= | CA2122484082 | CHD8 | c.5234T= (p.Leu1745=) c.3771T= c.6071T= (p.Leu2024=) n.5227T= n.865T= | |
14 | g.21393724A>C | CA388880472 | CHD8 | c.5234T>G (p.Leu1745Ter) c.3771T>G c.6071T>G (p.Leu2024Ter) n.5227T>G n.865T>G | |
14 | g.21393724A>G | CA388880473 | CHD8 | c.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 |