Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.48419622C>A | CA508038082 | GRIN2D | c.1899C>A (p.Ile633=) | |
19 | g.48419622C>G | CA406697770 | GRIN2D | c.1899C>G (p.Ile633Met) | |
19 | g.48419622C>T | CA508038083 | GRIN2D | c.1899C>T (p.Ile633=) | |
19 | g.48419623T>A | CA406697773 | GRIN2D | c.1900T>A (p.Trp634Arg) | |
19 | g.48419623T>C | CA406697775 | GRIN2D | c.1900T>C (p.Trp634Arg) | COSMIC |
19 | g.48419623T>G | CA406697777 | GRIN2D | c.1900T>G (p.Trp634Gly) | |
19 | g.48419624G>A | CA406697781 | GRIN2D | c.1901G>A (p.Trp634Ter) | |
19 | g.48419624G>C | CA406697786 | GRIN2D | c.1901G>C (p.Trp634Ser) | |
19 | g.48419624G>T | CA406697783 | GRIN2D | c.1901G>T (p.Trp634Leu) | |
19 | g.48419625G>A | CA406697789 | GRIN2D | c.1902G>A (p.Trp634Ter) | |
19 | g.48419625G>C | CA406697790 | GRIN2D | c.1902G>C (p.Trp634Cys) | |
19 | g.48419625G>T | CA406697791 | GRIN2D | c.1902G>T (p.Trp634Cys) | |
19 | g.48419626C>A | CA406697794 | GRIN2D | c.1903C>A (p.Leu635Met) | |
19 | g.48419626C>G | CA406697795 | GRIN2D | c.1903C>G (p.Leu635Val) | |
19 | g.48419626C>T | CA508038084 | GRIN2D | c.1903C>T (p.Leu635=) | gnomAD v4 |
19 | g.48419627T>A | CA406697799 | GRIN2D | c.1904T>A (p.Leu635Gln) | |
19 | g.48419627T>C | CA406697801 | GRIN2D | c.1904T>C (p.Leu635Pro) | |
19 | g.48419627T>G | CA406697802 | GRIN2D | c.1904T>G (p.Leu635Arg) | |
19 | g.48419628G>A | CA508038085 | GRIN2D | c.1905G>A (p.Leu635=) | |
19 | g.48419628G>C | CA508038086 | GRIN2D | c.1905G>C (p.Leu635=) | |
19 | g.48419628G= | CA2339887584 | GRIN2D | c.1905G= (p.Leu635=) | |
19 | g.48419628G>T | CA9550624 | GRIN2D | c.1905G>T (p.Leu635=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.48419629C>A | CA406697811 | GRIN2D | c.1906C>A (p.Leu636Ile) | |
19 | g.48419629C>G | CA406697809 | GRIN2D | c.1906C>G (p.Leu636Val) | |
19 | g.48419629C>T | CA406697806 | GRIN2D | c.1906C>T (p.Leu636Phe) | |
19 | g.48419630T>A | CA406697813 | GRIN2D | c.1907T>A (p.Leu636His) | |
19 | g.48419630T>C | CA406697815 | GRIN2D | c.1907T>C (p.Leu636Pro) | |
19 | g.48419630T>G | CA406697818 | GRIN2D | c.1907T>G (p.Leu636Arg) | |
19 | g.48419631C>A | CA508038089 | GRIN2D | c.1908C>A (p.Leu636=) | |
19 | g.48419631C>G | CA508038088 | GRIN2D | c.1908C>G (p.Leu636=) | |
19 | g.48419631C>T | CA508038087 | GRIN2D | c.1908C>T (p.Leu636=) | |
19 | g.48419632T>A | CA406697821 | GRIN2D | c.1909T>A (p.Trp637Arg) | |
19 | g.48419632T>C | CA406697822 | GRIN2D | c.1909T>C (p.Trp637Arg) | |
19 | g.48419632T>G | CA406697824 | GRIN2D | c.1909T>G (p.Trp637Gly) | |
19 | g.48419633G>A | CA406697832 | GRIN2D | c.1910G>A (p.Trp637Ter) | |
19 | g.48419633G>C | CA406697830 | GRIN2D | c.1910G>C (p.Trp637Ser) | |
19 | g.48419633G>T | CA406697828 | GRIN2D | c.1910G>T (p.Trp637Leu) | |
19 | g.48419634G>A | CA406697834 | GRIN2D | c.1911G>A (p.Trp637Ter) | |
19 | g.48419634G>C | CA406697837 | GRIN2D | c.1911G>C (p.Trp637Cys) | |
19 | g.48419634G>T | CA406697839 | GRIN2D | c.1911G>T (p.Trp637Cys) | |
19 | g.48419635G>A | CA406697841 | GRIN2D | c.1912G>A (p.Ala638Thr) | |
19 | g.48419635G>C | CA406697842 | GRIN2D | c.1912G>C (p.Ala638Pro) | |
19 | g.48419635G>T | CA406697843 | GRIN2D | c.1912G>T (p.Ala638Ser) | |
19 | g.48419636C>A | CA406697845 | GRIN2D | c.1913C>A (p.Ala638Asp) | |
19 | g.48419636C>G | CA406697848 | GRIN2D | c.1913C>G (p.Ala638Gly) | |
19 | g.48419636C>T | CA406697847 | GRIN2D | c.1913C>T (p.Ala638Val) | |
19 | g.48419637C>A | CA508038090 | GRIN2D | c.1914C>A (p.Ala638=) | |
19 | g.48419637C>G | CA508038091 | GRIN2D | c.1914C>G (p.Ala638=) | |
19 | g.48419637C>T | CA508038092 | GRIN2D | c.1914C>T (p.Ala638=) | |
19 | g.48419638C>A | CA406697849 | GRIN2D | c.1915C>A (p.Leu639Met) |