Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
14 | g.21393724A>T | CA388880474 | CHD8 | c.5234T>A (p.Leu1745Ter) c.3771T>A c.6071T>A (p.Leu2024Ter) n.5227T>A n.865T>A | |
14 | g.21393725A>C | CA388880475 | CHD8 | c.5233T>G (p.Leu1745Val) c.3770T>G c.6070T>G (p.Leu2024Val) n.5226T>G n.864T>G | |
14 | g.21393725A>G | CA484995240 | CHD8 | c.5233T>C (p.Leu1745=) c.3770T>C c.6070T>C (p.Leu2024=) n.5226T>C n.864T>C | |
14 | g.21393725A>T | CA388880476 | CHD8 | c.5233T>A (p.Leu1745Ile) c.3770T>A c.6070T>A (p.Leu2024Ile) n.5226T>A n.864T>A | |
14 | g.21393726A>C | CA484995246 | CHD8 | c.5232T>G (p.Thr1744=) c.3769T>G c.6069T>G (p.Thr2023=) n.5225T>G n.863T>G | |
14 | g.21393726A>G | CA484995248 | CHD8 | c.5232T>C (p.Thr1744=) c.3769T>C c.6069T>C (p.Thr2023=) n.5225T>C n.863T>C | |
14 | g.21393726A>T | CA484995247 | CHD8 | c.5232T>A (p.Thr1744=) c.3769T>A c.6069T>A (p.Thr2023=) n.5225T>A n.863T>A | gnomAD v4 |
14 | g.21393727G>A | CA388880477 | CHD8 | c.5231C>T (p.Thr1744Ile) c.3768C>T c.6068C>T (p.Thr2023Ile) n.5224C>T n.862C>T | COSMIC COSMIC |
14 | g.21393727G>C | CA388880478 | CHD8 | c.5231C>G (p.Thr1744Ser) c.3768C>G c.6068C>G (p.Thr2023Ser) n.5224C>G n.862C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393727G= | CA2122484090 | CHD8 | c.5231C= (p.Thr1744=) c.3768C= c.6068C= (p.Thr2023=) n.5224C= n.862C= | |
14 | g.21393727G>T | CA388880479 | CHD8 | c.5231C>A (p.Thr1744Asn) c.3768C>A c.6068C>A (p.Thr2023Asn) n.5224C>A n.862C>A | |
14 | g.21393728T>A | CA388880480 | CHD8 | c.5230A>T (p.Thr1744Ser) c.3767A>T c.6067A>T (p.Thr2023Ser) n.5223A>T n.861A>T | gnomAD v4 |
14 | g.21393728T>C | CA388880481 | CHD8 | c.5230A>G (p.Thr1744Ala) c.3767A>G c.6067A>G (p.Thr2023Ala) n.5223A>G n.861A>G | |
14 | g.21393728T>G | CA388880482 | CHD8 | c.5230A>C (p.Thr1744Pro) c.3767A>C c.6067A>C (p.Thr2023Pro) n.5223A>C n.861A>C | |
14 | g.21393729C>A | CA484995267 | CHD8 | c.5229G>T (p.Leu1743=) c.3766G>T c.6066G>T (p.Leu2022=) n.5222G>T n.860G>T | |
14 | g.21393729C= | CA2122484094 | CHD8 | c.5229G= (p.Leu1743=) c.3766G= c.6066G= (p.Leu2022=) n.5222G= n.860G= | |
14 | g.21393729C>G | CA7090843 | CHD8 | c.5229G>C (p.Leu1743=) c.3766G>C c.6066G>C (p.Leu2022=) n.5222G>C n.860G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393729C>T | CA484995264 | CHD8 | c.5229G>A (p.Leu1743=) c.3766G>A c.6066G>A (p.Leu2022=) n.5222G>A n.860G>A | |
14 | g.21393730A>C | CA388880485 | CHD8 | c.5228T>G (p.Leu1743Arg) c.3765T>G c.6065T>G (p.Leu2022Arg) n.5221T>G n.859T>G | gnomAD v4 |
14 | g.21393730A>G | CA388880483 | CHD8 | c.5228T>C (p.Leu1743Pro) c.3765T>C c.6065T>C (p.Leu2022Pro) n.5221T>C n.859T>C | |
14 | g.21393730A>T | CA388880484 | CHD8 | c.5228T>A (p.Leu1743Gln) c.3765T>A c.6065T>A (p.Leu2022Gln) n.5221T>A n.859T>A | |
14 | g.21393731G>A | CA484995274 | CHD8 | c.5227C>T (p.Leu1743=) c.3764C>T c.6064C>T (p.Leu2022=) n.5220C>T n.858C>T | |
14 | g.21393731G>C | CA388880486 | CHD8 | c.5227C>G (p.Leu1743Val) c.3764C>G c.6064C>G (p.Leu2022Val) n.5220C>G n.858C>G | |
14 | g.21393731G>T | CA388880487 | CHD8 | c.5227C>A (p.Leu1743Met) c.3764C>A c.6064C>A (p.Leu2022Met) n.5220C>A n.858C>A | |
14 | g.21393732A>C | CA388880488 | CHD8 | c.5226T>G (p.Ser1742Arg) c.3763T>G c.6063T>G (p.Ser2021Arg) n.5219T>G n.857T>G | |
14 | g.21393732A>G | CA484995283 | CHD8 | c.5226T>C (p.Ser1742=) c.3763T>C c.6063T>C (p.Ser2021=) n.5219T>C n.857T>C | |
14 | g.21393732A>T | CA388880489 | CHD8 | c.5226T>A (p.Ser1742Arg) c.3763T>A c.6063T>A (p.Ser2021Arg) n.5219T>A n.857T>A | |
14 | g.21393733C>A | CA388880490 | CHD8 | c.5225G>T (p.Ser1742Ile) c.3762G>T c.6062G>T (p.Ser2021Ile) n.5218G>T n.856G>T | |
14 | g.21393733C= | CA2122484097 | CHD8 | c.5225G= (p.Ser1742=) c.3762G= c.6062G= (p.Ser2021=) n.5218G= n.856G= | |
14 | g.21393733C>G | CA388880491 | CHD8 | c.5225G>C (p.Ser1742Thr) c.3762G>C c.6062G>C (p.Ser2021Thr) n.5218G>C n.856G>C | ClinVar dbSNP |
14 | g.21393733C>T | CA7090844 | CHD8 | c.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 |
14 | g.21393734T>A | CA388880492 | CHD8 | c.5224A>T (p.Ser1742Cys) c.3761A>T c.6061A>T (p.Ser2021Cys) n.5217A>T n.855A>T | |
14 | g.21393734T>C | CA388880493 | CHD8 | c.5224A>G (p.Ser1742Gly) c.3761A>G c.6061A>G (p.Ser2021Gly) n.5217A>G n.855A>G | |
14 | g.21393734T>G | CA388880494 | CHD8 | c.5224A>C (p.Ser1742Arg) c.3761A>C c.6061A>C (p.Ser2021Arg) n.5217A>C n.855A>C | |
14 | g.21393735C>A | CA257593188 | CHD8 | c.5223G>T (p.Glu1741Asp) c.3760G>T c.6060G>T (p.Glu2020Asp) n.5216G>T n.854G>T | dbSNP |
14 | g.21393735C= | CA2122484102 | CHD8 | c.5223G= (p.Glu1741=) c.3760G= c.6060G= (p.Glu2020=) n.5216G= n.854G= | |
14 | g.21393735C>G | CA388880495 | CHD8 | c.5223G>C (p.Glu1741Asp) c.3760G>C c.6060G>C (p.Glu2020Asp) n.5216G>C n.854G>C | ClinVar |
14 | g.21393735C>T | CA484995300 | CHD8 | c.5223G>A (p.Glu1741=) c.3760G>A c.6060G>A (p.Glu2020=) n.5216G>A n.854G>A | |
14 | g.21393736T>A | CA388880496 | CHD8 | c.5222A>T (p.Glu1741Val) c.3759A>T c.6059A>T (p.Glu2020Val) n.5215A>T n.853A>T | |
14 | g.21393736T>C | CA388880497 | CHD8 | c.5222A>G (p.Glu1741Gly) c.3759A>G c.6059A>G (p.Glu2020Gly) n.5215A>G n.853A>G | gnomAD v4 |
14 | g.21393736T>G | CA388880498 | CHD8 | c.5222A>C (p.Glu1741Ala) c.3759A>C c.6059A>C (p.Glu2020Ala) n.5215A>C n.853A>C | |
14 | g.21393737C>A | CA388880499 | CHD8 | c.5221G>T (p.Glu1741Ter) c.3758G>T c.6058G>T (p.Glu2020Ter) n.5214G>T n.852G>T | dbSNP |
14 | g.21393737C= | CA2122484107 | CHD8 | c.5221G= (p.Glu1741=) c.3758G= c.6058G= (p.Glu2020=) n.5214G= n.852G= |