Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.75009087G>A | CA390430404 | EIF2B2 | c.955G>A (p.Glu319Lys) n.535G>A | |
14 | g.75009087G>C | CA390430410 | EIF2B2 | c.955G>C (p.Glu319Gln) n.535G>C | |
14 | g.75009087G>T | CA390430412 | EIF2B2 | c.955G>T (p.Glu319Ter) n.535G>T | |
14 | g.75009088A>C | CA390430422 | EIF2B2 | c.956A>C (p.Glu319Ala) n.536A>C | |
14 | g.75009088A>G | CA390430427 | EIF2B2 | c.956A>G (p.Glu319Gly) n.536A>G | |
14 | g.75009088A>T | CA390430433 | EIF2B2 | c.956A>T (p.Glu319Val) n.536A>T | |
14 | g.75009089G>A | CA487178842 | EIF2B2 | c.957G>A (p.Glu319=) n.537G>A | |
14 | g.75009089G>C | CA390430437 | EIF2B2 | c.957G>C (p.Glu319Asp) n.537G>C | |
14 | g.75009089G>T | CA390430447 | EIF2B2 | c.957G>T (p.Glu319Asp) n.537G>T | gnomAD v4 |
14 | g.75009090C>A | CA390430453 | EIF2B2 | c.958C>A (p.Leu320Ile) n.538C>A | |
14 | g.75009090C>G | CA390430457 | EIF2B2 | c.958C>G (p.Leu320Val) n.538C>G | gnomAD v4 |
14 | g.75009090C>T | CA390430461 | EIF2B2 | c.958C>T (p.Leu320Phe) n.538C>T | |
14 | g.75009090_75009094del | CA2625725663 | EIF2B2 | c.958_962del (p.Leu320TyrfsTer21) n.538_542del | gnomAD v4 |
14 | g.75009091T>A | CA390430470 | EIF2B2 | c.959T>A (p.Leu320His) n.539T>A | |
14 | g.75009091T>C | CA390430469 | EIF2B2 | c.959T>C (p.Leu320Pro) n.539T>C | COSMIC |
14 | g.75009091T>G | CA390430466 | EIF2B2 | c.959T>G (p.Leu320Arg) n.539T>G | |
14 | g.75009092C>A | CA487178843 | EIF2B2 | c.960C>A (p.Leu320=) n.540C>A | |
14 | g.75009092C= | CA2147300744 | EIF2B2 | c.960C= (p.Leu320=) n.540C= | |
14 | g.75009092C>G | CA487178844 | EIF2B2 | c.960C>G (p.Leu320=) n.540C>G | |
14 | g.75009092C>T | CA7275117 | EIF2B2 | c.960C>T (p.Leu320=) n.540C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.75009093A>C | CA390430472 | EIF2B2 | c.961A>C (p.Ile321Leu) n.541A>C | gnomAD v4 |
14 | g.75009093A>G | CA390430471 | EIF2B2 | c.961A>G (p.Ile321Val) n.541A>G | |
14 | g.75009093A>T | CA390430475 | EIF2B2 | c.961A>T (p.Ile321Phe) n.541A>T | |
14 | g.75009094T>A | CA390430476 | EIF2B2 | c.962T>A (p.Ile321Asn) n.542T>A | |
14 | g.75009094T>C | CA390430488 | EIF2B2 | c.962T>C (p.Ile321Thr) n.542T>C | |
14 | g.75009094T>G | CA390430484 | EIF2B2 | c.962T>G (p.Ile321Ser) n.542T>G | |
14 | g.75009095T>A | CA487178845 | EIF2B2 | c.963T>A (p.Ile321=) n.543T>A | |
14 | g.75009095T>C | CA487178846 | EIF2B2 | c.963T>C (p.Ile321=) n.543T>C | |
14 | g.75009095T>G | CA390430494 | EIF2B2 | c.963T>G (p.Ile321Met) n.543T>G | |
14 | g.75009095T= | CA2147300746 | EIF2B2 | c.963T= (p.Ile321=) n.543T= | |
14 | g.75009095_75009098delinsTACC | CA2147300745 | EIF2B2 | c.963_966delinsTACC (p.Ile321=) n.543_546delinsTACC | |
14 | g.75009096A>C | CA390430514 | EIF2B2 | c.964A>C (p.Thr322Pro) n.544A>C | |
14 | g.75009096A>G | CA390430515 | EIF2B2 | c.964A>G (p.Thr322Ala) n.544A>G | |
14 | g.75009096A>T | CA390430516 | EIF2B2 | c.964A>T (p.Thr322Ser) n.544A>T | gnomAD v4 |
14 | g.75009096_75009098del | CA7275118 | EIF2B2 | c.964_966del (p.Thr322del) n.544_546del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.75009096_75009098dup | CA2147300747 | EIF2B2 | c.964_966dup (p.Thr322_Leu323insThr) n.544_546dup | dbSNP |
14 | g.75009097C>A | CA390430533 | EIF2B2 | c.965C>A (p.Thr322Asn) n.545C>A | |
14 | g.75009097C= | CA2147300748 | EIF2B2 | c.965C= (p.Thr322=) n.545C= | |
14 | g.75009097C>G | CA390430537 | EIF2B2 | c.965C>G (p.Thr322Ser) n.545C>G | |
14 | g.75009097C>T | CA390430539 | EIF2B2 | c.965C>T (p.Thr322Ile) n.545C>T | dbSNP gnomAD v4 |
14 | g.75009098_75009099del | CA2625725681 | EIF2B2 | c.966_967del (p.Phe324TyrfsTer18) n.546_547del | gnomAD v4 |
14 | g.75009098C>A | CA487178847 | EIF2B2 | c.966C>A (p.Thr322=) n.546C>A | |
14 | g.75009098C>G | CA487178848 | EIF2B2 | c.966C>G (p.Thr322=) n.546C>G | |
14 | g.75009098C>T | CA487178849 | EIF2B2 | c.966C>T (p.Thr322=) n.546C>T | |
14 | g.75009099C>A | CA390430542 | EIF2B2 | c.967C>A (p.Leu323Ile) n.547C>A | |
14 | g.75009099C= | CA2147300749 | EIF2B2 | c.967C= (p.Leu323=) n.547C= | |
14 | g.75009099C>G | CA390430544 | EIF2B2 | c.967C>G (p.Leu323Val) n.547C>G | |
14 | g.75009099C>T | CA390430545 | EIF2B2 | c.967C>T (p.Leu323Phe) n.547C>T | ClinVar dbSNP |
14 | g.75009100T>A | CA390430583 | EIF2B2 | c.968T>A (p.Leu323His) n.548T>A | |
14 | g.75009100T>C | CA390430581 | EIF2B2 | c.968T>C (p.Leu323Pro) n.548T>C |