| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.21393610T>A | CA388880240 | CHD8 | c.5348A>T (p.Lys1783Ile) c.3885A>T c.6185A>T (p.Lys2062Ile) n.5341A>T | gnomAD v4 |
| 14 | g.21393610T>C | CA388880241 | CHD8 | c.5348A>G (p.Lys1783Arg) c.3885A>G c.6185A>G (p.Lys2062Arg) n.5341A>G | |
| 14 | g.21393610T>G | CA388880242 | CHD8 | c.5348A>C (p.Lys1783Thr) c.3885A>C c.6185A>C (p.Lys2062Thr) n.5341A>C | gnomAD v4 |
| 14 | g.21393611T>A | CA388880243 | CHD8 | c.5347A>T (p.Lys1783Ter) c.3884A>T c.6184A>T (p.Lys2062Ter) n.5340A>T | dbSNP |
| 14 | g.21393611T>C | CA388880244 | CHD8 | c.5347A>G (p.Lys1783Glu) c.3884A>G c.6184A>G (p.Lys2062Glu) n.5340A>G | |
| 14 | g.21393611T>G | CA388880245 | CHD8 | c.5347A>C (p.Lys1783Gln) c.3884A>C c.6184A>C (p.Lys2062Gln) n.5340A>C | |
| 14 | g.21393611T= | CA2122506089 | CHD8 | c.5347A= (p.Lys1783=) c.3884A= c.6184A= (p.Lys2062=) n.5340A= | |
| 14 | g.21393612G>A | CA484995046 | CHD8 | c.5346C>T (p.Val1782=) c.3883C>T c.6183C>T (p.Val2061=) n.5339C>T | |
| 14 | g.21393612G>C | CA484995047 | CHD8 | c.5346C>G (p.Val1782=) c.3883C>G c.6183C>G (p.Val2061=) n.5339C>G | |
| 14 | g.21393612G>T | CA484995048 | CHD8 | c.5346C>A (p.Val1782=) c.3883C>A c.6183C>A (p.Val2061=) n.5339C>A | |
| 14 | g.21393613A>C | CA388880246 | CHD8 | c.5345T>G (p.Val1782Gly) c.3882T>G c.6182T>G (p.Val2061Gly) n.5338T>G | |
| 14 | g.21393613A>G | CA388880247 | CHD8 | c.5345T>C (p.Val1782Ala) c.3882T>C c.6182T>C (p.Val2061Ala) n.5338T>C | |
| 14 | g.21393613A>T | CA388880248 | CHD8 | c.5345T>A (p.Val1782Asp) c.3882T>A c.6182T>A (p.Val2061Asp) n.5338T>A | |
| 14 | g.21393614C>A | CA388880249 | CHD8 | c.5344G>T (p.Val1782Phe) c.3881G>T c.6181G>T (p.Val2061Phe) n.5337G>T | |
| 14 | g.21393614C>G | CA388880250 | CHD8 | c.5344G>C (p.Val1782Leu) c.3881G>C c.6181G>C (p.Val2061Leu) n.5337G>C | |
| 14 | g.21393614C>T | CA388880251 | CHD8 | c.5344G>A (p.Val1782Ile) c.3881G>A c.6181G>A (p.Val2061Ile) n.5337G>A | |
| 14 | g.21393615T>A | CA484995050 | CHD8 | c.5343A>T (p.Pro1781=) c.3880A>T c.6180A>T (p.Pro2060=) n.5336A>T | |
| 14 | g.21393615T>C | CA484995051 | CHD8 | c.5343A>G (p.Pro1781=) c.3880A>G c.6180A>G (p.Pro2060=) n.5336A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.21393615T>G | CA484995052 | CHD8 | c.5343A>C (p.Pro1781=) c.3880A>C c.6180A>C (p.Pro2060=) n.5336A>C | |
| 14 | g.21393615T= | CA2122506091 | CHD8 | c.5343A= (p.Pro1781=) c.3880A= c.6180A= (p.Pro2060=) n.5336A= | |
| 14 | g.21393616G>A | CA388880253 | CHD8 | c.5342C>T (p.Pro1781Leu) c.3879C>T c.6179C>T (p.Pro2060Leu) n.5335C>T | |
| 14 | g.21393616G>C | CA7090826 | CHD8 | c.5342C>G (p.Pro1781Arg) c.3879C>G c.6179C>G (p.Pro2060Arg) n.5335C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.21393616G= | CA2122506092 | CHD8 | c.5342C= (p.Pro1781=) c.3879C= c.6179C= (p.Pro2060=) n.5335C= | |
| 14 | g.21393616G>T | CA388880252 | CHD8 | c.5342C>A (p.Pro1781Gln) c.3879C>A c.6179C>A (p.Pro2060Gln) n.5335C>A | |
| 14 | g.21393617G>A | CA7090827 | CHD8 | c.5341C>T (p.Pro1781Ser) c.3878C>T c.6178C>T (p.Pro2060Ser) n.5334C>T | dbSNP ExAC gnomAD v2 |
| 14 | g.21393617G>C | CA388880255 | CHD8 | c.5341C>G (p.Pro1781Ala) c.3878C>G c.6178C>G (p.Pro2060Ala) n.5334C>G | |
| 14 | g.21393617G= | CA2122506094 | CHD8 | c.5341C= (p.Pro1781=) c.3878C= c.6178C= (p.Pro2060=) n.5334C= | |
| 14 | g.21393617G>T | CA388880254 | CHD8 | c.5341C>A (p.Pro1781Thr) c.3878C>A c.6178C>A (p.Pro2060Thr) n.5334C>A | |
| 14 | g.21393618T>A | CA484995055 | CHD8 | c.5340A>T (p.Pro1780=) c.3877A>T c.6177A>T (p.Pro2059=) n.5333A>T | |
| 14 | g.21393618T>C | CA484995057 | CHD8 | c.5340A>G (p.Pro1780=) c.3877A>G c.6177A>G (p.Pro2059=) n.5333A>G | |
| 14 | g.21393618T>G | CA484995056 | CHD8 | c.5340A>C (p.Pro1780=) c.3877A>C c.6177A>C (p.Pro2059=) n.5333A>C | |
| 14 | g.21393619G>A | CA388880256 | CHD8 | c.5339C>T (p.Pro1780Leu) c.3876C>T c.6176C>T (p.Pro2059Leu) n.5332C>T | dbSNP gnomAD v4 |
| 14 | g.21393619G>C | CA388880257 | CHD8 | c.5339C>G (p.Pro1780Arg) c.3876C>G c.6176C>G (p.Pro2059Arg) n.5332C>G | |
| 14 | g.21393619G= | CA2122506096 | CHD8 | c.5339C= (p.Pro1780=) c.3876C= c.6176C= (p.Pro2059=) n.5332C= | |
| 14 | g.21393619G>T | CA388880258 | CHD8 | c.5339C>A (p.Pro1780Gln) c.3876C>A c.6176C>A (p.Pro2059Gln) n.5332C>A | |
| 14 | g.21393620G>A | CA388880259 | CHD8 | c.5338C>T (p.Pro1780Ser) c.3875C>T c.6175C>T (p.Pro2059Ser) n.5331C>T | |
| 14 | g.21393620G>C | CA388880260 | CHD8 | c.5338C>G (p.Pro1780Ala) c.3875C>G c.6175C>G (p.Pro2059Ala) n.5331C>G | |
| 14 | g.21393620G>T | CA388880261 | CHD8 | c.5338C>A (p.Pro1780Thr) c.3875C>A c.6175C>A (p.Pro2059Thr) n.5331C>A | |
| 14 | g.21393621A>C | CA484995058 | CHD8 | c.5337T>G (p.Val1779=) c.3874T>G c.6174T>G (p.Val2058=) n.5330T>G | |
| 14 | g.21393621A>G | CA484995059 | CHD8 | c.5337T>C (p.Val1779=) c.3874T>C c.6174T>C (p.Val2058=) n.5330T>C | gnomAD v4 |
| 14 | g.21393621A>T | CA484995060 | CHD8 | c.5337T>A (p.Val1779=) c.3874T>A c.6174T>A (p.Val2058=) n.5330T>A | |
| 14 | g.21393622A>C | CA388880264 | CHD8 | c.5336T>G (p.Val1779Gly) c.3873T>G c.6173T>G (p.Val2058Gly) n.5329T>G | |
| 14 | g.21393622A>G | CA388880262 | CHD8 | c.5336T>C (p.Val1779Ala) c.3873T>C c.6173T>C (p.Val2058Ala) n.5329T>C | |
| 14 | g.21393622A>T | CA388880263 | CHD8 | c.5336T>A (p.Val1779Asp) c.3873T>A c.6173T>A (p.Val2058Asp) n.5329T>A | |
| 14 | g.21393623C>A | CA388880265 | CHD8 | c.5335G>T (p.Val1779Phe) c.3872G>T c.6172G>T (p.Val2058Phe) n.5328G>T | |
| 14 | g.21393623C>G | CA388880266 | CHD8 | c.5335G>C (p.Val1779Leu) c.3872G>C c.6172G>C (p.Val2058Leu) n.5328G>C | |
| 14 | g.21393623C>T | CA388880267 | CHD8 | c.5335G>A (p.Val1779Ile) c.3872G>A c.6172G>A (p.Val2058Ile) n.5328G>A | |
| 14 | g.21393624A= | CA2122506098 | CHD8 | c.5334T= (p.Ser1778=) c.3871T= c.6171T= (p.Ser2057=) n.5327T= | |
| 14 | g.21393624A>C | CA388880268 | CHD8 | c.5334T>G (p.Ser1778Arg) c.3871T>G c.6171T>G (p.Ser2057Arg) n.5327T>G | |
| 14 | g.21393624A>G | CA484995063 | CHD8 | c.5334T>C (p.Ser1778=) c.3871T>C c.6171T>C (p.Ser2057=) n.5327T>C | dbSNP gnomAD v4 |