| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75009071_75009080del | CA2695219536 | EIF2B2 | c.939_948del (p.Asp314ProfsTer23) n.519_528del | |
| 14 | g.75009079T>A | CA340227 | EIF2B2 | c.947T>A (p.Val316Asp) n.527T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009079T>C | CA390430352 | EIF2B2 | c.947T>C (p.Val316Ala) n.527T>C | |
| 14 | g.75009079T>G | CA390430356 | EIF2B2 | c.947T>G (p.Val316Gly) n.527T>G | |
| 14 | g.75009079T= | CA2147300737 | EIF2B2 | c.947T= (p.Val316=) n.527T= | |
| 14 | g.75009080T>A | CA487178835 | EIF2B2 | c.948T>A (p.Val316=) n.528T>A | |
| 14 | g.75009080T>C | CA263656879 | EIF2B2 | c.948T>C (p.Val316=) n.528T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009080T>G | CA487178836 | EIF2B2 | c.948T>G (p.Val316=) n.528T>G | |
| 14 | g.75009080T= | CA2147300738 | EIF2B2 | c.948T= (p.Val316=) n.528T= | |
| 14 | g.75009081C>A | CA390430360 | EIF2B2 | c.949C>A (p.Pro317Thr) n.529C>A | |
| 14 | g.75009081C= | CA2147300739 | EIF2B2 | c.949C= (p.Pro317=) n.529C= | |
| 14 | g.75009081C>G | CA390430363 | EIF2B2 | c.949C>G (p.Pro317Ala) n.529C>G | gnomAD v4 |
| 14 | g.75009081C>T | CA390430369 | EIF2B2 | c.949C>T (p.Pro317Ser) n.529C>T | dbSNP gnomAD v4 |
| 14 | g.75009082C>A | CA390430372 | EIF2B2 | c.950C>A (p.Pro317His) n.530C>A | |
| 14 | g.75009082C= | CA2147300740 | EIF2B2 | c.950C= (p.Pro317=) n.530C= | |
| 14 | g.75009082C>G | CA390430377 | EIF2B2 | c.950C>G (p.Pro317Arg) n.530C>G | |
| 14 | g.75009082C>T | CA390430381 | EIF2B2 | c.950C>T (p.Pro317Leu) n.530C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.75009083C>A | CA487178837 | EIF2B2 | c.951C>A (p.Pro317=) n.531C>A | |
| 14 | g.75009083C>G | CA487178838 | EIF2B2 | c.951C>G (p.Pro317=) n.531C>G | |
| 14 | g.75009083C>T | CA487178839 | EIF2B2 | c.951C>T (p.Pro317=) n.531C>T | |
| 14 | g.75009084C>A | CA390430382 | EIF2B2 | c.952C>A (p.Pro318Thr) n.532C>A | |
| 14 | g.75009084C>G | CA390430383 | EIF2B2 | c.952C>G (p.Pro318Ala) n.532C>G | |
| 14 | g.75009084C>T | CA390430384 | EIF2B2 | c.952C>T (p.Pro318Ser) n.532C>T | |
| 14 | g.75009085C>A | CA390430394 | EIF2B2 | c.953C>A (p.Pro318Gln) n.533C>A | |
| 14 | g.75009085C>G | CA390430392 | EIF2B2 | c.953C>G (p.Pro318Arg) n.533C>G | |
| 14 | g.75009085C>T | CA390430388 | EIF2B2 | c.953C>T (p.Pro318Leu) n.533C>T | gnomAD v4 |
| 14 | g.75009085_75009086delinsCA | CA2147300741 | EIF2B2 | c.953_954delinsCA (p.Pro318=) n.533_534delinsCA | |
| 14 | g.75009086del | CA2147300742 | EIF2B2 | c.954del (p.Glu319SerfsTer21) n.534del | dbSNP |
| 14 | g.75009086A= | CA2147300743 | EIF2B2 | c.954A= (p.Pro318=) n.534A= | |
| 14 | g.75009086A>C | CA7275116 | EIF2B2 | c.954A>C (p.Pro318=) n.534A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009086A>G | CA487178841 | EIF2B2 | c.954A>G (p.Pro318=) n.534A>G | |
| 14 | g.75009086A>T | CA487178840 | EIF2B2 | c.954A>T (p.Pro318=) n.534A>T | |
| 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= |