Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60741556_60741560del | CA2687395191 | CHD7 | n.637_641del c.124_128del (p.Pro42ArgfsTer17) | gnomAD v4 |
8 | g.60741557C>A | CA371295765 | CHD7 | n.638C>A c.125C>A (p.Pro42Gln) | |
8 | g.60741557C>G | CA371295767 | CHD7 | n.638C>G c.125C>G (p.Pro42Arg) | |
8 | g.60741557C>T | CA371295771 | CHD7 | n.638C>T c.125C>T (p.Pro42Leu) | gnomAD v4 |
8 | g.60741558A>C | CA460837768 | CHD7 | n.639A>C c.126A>C (p.Pro42=) | |
8 | g.60741558A>G | CA460837769 | CHD7 | n.639A>G c.126A>G (p.Pro42=) | |
8 | g.60741558A>T | CA460837770 | CHD7 | n.639A>T c.126A>T (p.Pro42=) | |
8 | g.60741559A= | CA1788094501 | CHD7 | n.640A= c.127A= (p.Ile43=) | |
8 | g.60741559A>C | CA371295775 | CHD7 | n.640A>C c.127A>C (p.Ile43Leu) | |
8 | g.60741559A>G | CA4759266 | CHD7 | n.640A>G c.127A>G (p.Ile43Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60741559A>T | CA371295780 | CHD7 | n.640A>T c.127A>T (p.Ile43Leu) | |
8 | g.60741560T>A | CA371295784 | CHD7 | n.641T>A c.128T>A (p.Ile43Lys) | |
8 | g.60741560T>C | CA371295786 | CHD7 | n.641T>C c.128T>C (p.Ile43Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60741560T>G | CA371295790 | CHD7 | n.641T>G c.128T>G (p.Ile43Arg) | |
8 | g.60741560T= | CA1788094505 | CHD7 | n.641T= c.128T= (p.Ile43=) | |
8 | g.60741561A>C | CA460837776 | CHD7 | n.642A>C c.129A>C (p.Ile43=) | gnomAD v4 |
8 | g.60741561A>G | CA371295792 | CHD7 | n.642A>G c.129A>G (p.Ile43Met) | |
8 | g.60741561A>T | CA460837779 | CHD7 | n.642A>T c.129A>T (p.Ile43=) | |
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) |