| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60741548A>C | CA371295702 | CHD7 | n.629A>C c.116A>C (p.Gln39Pro) | |
| 8 | g.60741548A>G | CA371295705 | CHD7 | n.629A>G c.116A>G (p.Gln39Arg) | |
| 8 | g.60741548A>T | CA371295697 | CHD7 | n.629A>T c.116A>T (p.Gln39Leu) | gnomAD v4 |
| 8 | g.60741549G>A | CA460837749 | CHD7 | n.630G>A c.117G>A (p.Gln39=) | |
| 8 | g.60741549G>C | CA371295709 | CHD7 | n.630G>C c.117G>C (p.Gln39His) | |
| 8 | g.60741549G>T | CA371295712 | CHD7 | n.630G>T c.117G>T (p.Gln39His) | gnomAD v4 |
| 8 | g.60741550C>A | CA371295716 | CHD7 | n.631C>A c.118C>A (p.Gln40Lys) | |
| 8 | g.60741550C>G | CA371295719 | CHD7 | n.631C>G c.118C>G (p.Gln40Glu) | |
| 8 | g.60741550C>T | CA371295722 | CHD7 | n.631C>T c.118C>T (p.Gln40Ter) | |
| 8 | g.60741551A>C | CA371295726 | CHD7 | n.632A>C c.119A>C (p.Gln40Pro) | |
| 8 | g.60741551A>G | CA371295724 | CHD7 | n.632A>G c.119A>G (p.Gln40Arg) | gnomAD v4 |
| 8 | g.60741551A>T | CA371295725 | CHD7 | n.632A>T c.119A>T (p.Gln40Leu) | |
| 8 | g.60741552A= | CA1788094478 | CHD7 | n.633A= c.120A= (p.Gln40=) | |
| 8 | g.60741552A>C | CA4759264 | CHD7 | n.633A>C c.120A>C (p.Gln40His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741552A>G | CA460837756 | CHD7 | n.633A>G c.120A>G (p.Gln40=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741552A>T | CA371295728 | CHD7 | n.633A>T c.120A>T (p.Gln40His) | |
| 8 | g.60741553A>C | CA371295729 | CHD7 | n.634A>C c.121A>C (p.Met41Leu) | |
| 8 | g.60741553A>G | CA371295732 | CHD7 | n.634A>G c.121A>G (p.Met41Val) | |
| 8 | g.60741553A>T | CA371295734 | CHD7 | n.634A>T c.121A>T (p.Met41Leu) | |
| 8 | g.60741554T>A | CA371295735 | CHD7 | n.635T>A c.122T>A (p.Met41Lys) | |
| 8 | g.60741554T>C | CA371295740 | CHD7 | n.635T>C c.122T>C (p.Met41Thr) | ClinVar |
| 8 | g.60741554T>G | CA371295737 | CHD7 | n.635T>G c.122T>G (p.Met41Arg) | |
| 8 | g.60741555G>A | CA4759265 | CHD7 | n.636G>A c.123G>A (p.Met41Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741555G>C | CA371295748 | CHD7 | n.636G>C c.123G>C (p.Met41Ile) | |
| 8 | g.60741555G= | CA1788094482 | CHD7 | n.636G= c.123G= (p.Met41=) | |
| 8 | g.60741555G>T | CA371295744 | CHD7 | n.636G>T c.123G>T (p.Met41Ile) | |
| 8 | g.60741556C>A | CA371295751 | CHD7 | n.637C>A c.124C>A (p.Pro42Thr) | |
| 8 | g.60741556C= | CA1788094485 | CHD7 | n.637C= c.124C= (p.Pro42=) | |
| 8 | g.60741556C>G | CA371295754 | CHD7 | n.637C>G c.124C>G (p.Pro42Ala) | |
| 8 | g.60741556C>T | CA371295756 | CHD7 | n.637C>T c.124C>T (p.Pro42Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) |