Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60741562G>A | CA371295795 | CHD7 | n.643G>A c.130G>A (p.Asp44Asn) | |
8 | g.60741562G>C | CA371295797 | CHD7 | n.643G>C c.130G>C (p.Asp44His) | |
8 | g.60741562G>T | CA371295796 | CHD7 | n.643G>T c.130G>T (p.Asp44Tyr) | |
8 | g.60741563A>C | CA371295798 | CHD7 | n.644A>C c.131A>C (p.Asp44Ala) | |
8 | g.60741563A>G | CA371295800 | CHD7 | n.644A>G c.131A>G (p.Asp44Gly) | gnomAD v4 |
8 | g.60741563A>T | CA371295803 | CHD7 | n.644A>T c.131A>T (p.Asp44Val) | |
8 | g.60741563_60741573del | CA2687395192 | CHD7 | n.644_654del c.131_141del (p.Asp44GlyfsTer13) | gnomAD v4 |
8 | g.60741564C>A | CA371295815 | CHD7 | n.645C>A c.132C>A (p.Asp44Glu) | gnomAD v4 |
8 | g.60741564C>G | CA371295819 | CHD7 | n.645C>G c.132C>G (p.Asp44Glu) | |
8 | g.60741564C>T | CA461102903 | CHD7 | n.645C>T c.132C>T (p.Asp44=) | |
8 | g.60741565C>A | CA371295822 | CHD7 | n.646C>A c.133C>A (p.Gln45Lys) | |
8 | g.60741565C>G | CA371295823 | CHD7 | n.646C>G c.133C>G (p.Gln45Glu) | |
8 | g.60741565C>T | CA371295830 | CHD7 | n.646C>T c.133C>T (p.Gln45Ter) | |
8 | g.60741566A= | CA1788094506 | CHD7 | n.647A= c.134A= (p.Gln45=) | |
8 | g.60741566A>C | CA371295833 | CHD7 | n.647A>C c.134A>C (p.Gln45Pro) | |
8 | g.60741566A>G | CA4759267 | CHD7 | n.647A>G c.134A>G (p.Gln45Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60741566A>T | CA371295849 | CHD7 | n.647A>T c.134A>T (p.Gln45Leu) | COSMIC |
8 | g.60741567A>C | CA371295858 | CHD7 | n.648A>C c.135A>C (p.Gln45His) | |
8 | g.60741567A>G | CA461102910 | CHD7 | n.648A>G c.135A>G (p.Gln45=) | |
8 | g.60741567A>T | CA371295860 | CHD7 | n.648A>T c.135A>T (p.Gln45His) | |
8 | g.60741568G>A | CA371295863 | CHD7 | n.649G>A c.136G>A (p.Gly46Ser) | |
8 | g.60741568G>C | CA4759268 | CHD7 | n.649G>C c.136G>C (p.Gly46Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60741568G= | CA1788094507 | CHD7 | n.649G= c.136G= (p.Gly46=) | |
8 | g.60741568G>T | CA371295870 | CHD7 | n.649G>T c.136G>T (p.Gly46Cys) | dbSNP |
8 | g.60741569G>A | CA371295872 | CHD7 | n.650G>A c.137G>A (p.Gly46Asp) | |
8 | g.60741569G>C | CA371295875 | CHD7 | n.650G>C c.137G>C (p.Gly46Ala) | |
8 | g.60741569G= | CA1788094509 | CHD7 | n.650G= c.137G= (p.Gly46=) | |
8 | g.60741569G>T | CA4759269 | CHD7 | n.650G>T c.137G>T (p.Gly46Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60741570C>A | CA461102918 | CHD7 | n.651C>A c.138C>A (p.Gly46=) | |
8 | g.60741570C>G | CA461102921 | CHD7 | n.651C>G c.138C>G (p.Gly46=) | |
8 | g.60741570C>T | CA461102922 | CHD7 | n.651C>T c.138C>T (p.Gly46=) | gnomAD v4 |
8 | g.60741571T>A | CA371295907 | CHD7 | n.652T>A c.139T>A (p.Phe47Ile) | |
8 | g.60741571T>C | CA371295880 | CHD7 | n.652T>C c.139T>C (p.Phe47Leu) | |
8 | g.60741571T>G | CA371295903 | CHD7 | n.652T>G c.139T>G (p.Phe47Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60741571T= | CA1788094513 | CHD7 | n.652T= c.139T= (p.Phe47=) | |
8 | g.60741572T>A | CA371295909 | CHD7 | n.653T>A c.140T>A (p.Phe47Tyr) | |
8 | g.60741572T>C | CA371295910 | CHD7 | n.653T>C c.140T>C (p.Phe47Ser) | |
8 | g.60741572T>G | CA371295912 | CHD7 | n.653T>G c.140T>G (p.Phe47Cys) | |
8 | g.60741573T>A | CA371295915 | CHD7 | n.654T>A c.141T>A (p.Phe47Leu) | |
8 | g.60741573T>C | CA461102924 | CHD7 | n.654T>C c.141T>C (p.Phe47=) | ClinVar dbSNP gnomAD v4 |
8 | g.60741573T>G | CA371295917 | CHD7 | n.654T>G c.141T>G (p.Phe47Leu) | |
8 | g.60741574G>A | CA371295919 | CHD7 | n.655G>A c.142G>A (p.Ala48Thr) | gnomAD v4 |
8 | g.60741574G>C | CA371295925 | CHD7 | n.655G>C c.142G>C (p.Ala48Pro) | |
8 | g.60741574G>T | CA371295922 | CHD7 | n.655G>T c.142G>T (p.Ala48Ser) | |
8 | g.60741575C>A | CA371295929 | CHD7 | n.656C>A c.143C>A (p.Ala48Asp) | |
8 | g.60741575C>G | CA371295932 | CHD7 | n.656C>G c.143C>G (p.Ala48Gly) | |
8 | g.60741575C>T | CA371295937 | CHD7 | n.656C>T c.143C>T (p.Ala48Val) | |
8 | g.60741576C>A | CA461102930 | CHD7 | n.657C>A c.144C>A (p.Ala48=) | |
8 | g.60741576C= | CA1788094531 | CHD7 | n.657C= c.144C= (p.Ala48=) | |
8 | g.60741576C>G | CA461102928 | CHD7 | n.657C>G c.144C>G (p.Ala48=) |