Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.75004787_75004790delinsAATG | CA2147299017 | EIF2B2 | c.484_487delinsAATG (p.Asn162=) c.457_460delinsAATG (p.Asn153=) n.779_782delinsAATG n.542_545delinsAATG | |
14 | g.75004789_75004791del | CA2147299018 | EIF2B2 | c.486_488del (p.Asn162_Glu163delinsLys) c.459_461del (p.Asn153_Glu154delinsLys) n.781_783del n.544_546del | dbSNP |
14 | g.75004789T>A | CA390425822 | EIF2B2 | c.486T>A (p.Asn162Lys) c.459T>A (p.Asn153Lys) n.781T>A n.544T>A | |
14 | g.75004789T>C | CA487177025 | EIF2B2 | c.486T>C (p.Asn162=) c.459T>C (p.Asn153=) n.781T>C n.544T>C | |
14 | g.75004789T>G | CA390425824 | EIF2B2 | c.486T>G (p.Asn162Lys) c.459T>G (p.Asn153Lys) n.781T>G n.544T>G | gnomAD v4 |
14 | g.75004790G>A | CA390425829 | EIF2B2 | c.487G>A (p.Glu163Lys) c.460G>A (p.Glu154Lys) n.782G>A n.545G>A | |
14 | g.75004790G>C | CA390425828 | EIF2B2 | c.487G>C (p.Glu163Gln) c.460G>C (p.Glu154Gln) n.782G>C n.545G>C | |
14 | g.75004790G>T | CA390425826 | EIF2B2 | c.487G>T (p.Glu163Ter) c.460G>T (p.Glu154Ter) n.782G>T n.545G>T | |
14 | g.75004791A= | CA2147299020 | EIF2B2 | c.488A= (p.Glu163=) c.461A= (p.Glu154=) n.783A= n.546A= | |
14 | g.75004791A>C | CA390425832 | EIF2B2 | c.488A>C (p.Glu163Ala) c.461A>C (p.Glu154Ala) n.783A>C n.546A>C | |
14 | g.75004791A>G | CA390425834 | EIF2B2 | c.488A>G (p.Glu163Gly) c.461A>G (p.Glu154Gly) n.783A>G n.546A>G | dbSNP |
14 | g.75004791A>T | CA390425835 | EIF2B2 | c.488A>T (p.Glu163Val) c.461A>T (p.Glu154Val) n.783A>T n.546A>T | |
14 | g.75004791_75004810del | CA2739278859 | EIF2B2 | c.488_507del (p.Glu163ValfsTer?) c.461_480del (p.Glu154ValfsTer?) n.783_802del n.546_565del | ClinVar |
14 | g.75004792G>A | CA487177026 | EIF2B2 | c.489G>A (p.Glu163=) c.462G>A (p.Glu154=) n.784G>A n.547G>A | |
14 | g.75004792G>C | CA390425837 | EIF2B2 | c.489G>C (p.Glu163Asp) c.462G>C (p.Glu154Asp) n.784G>C n.547G>C | |
14 | g.75004792G>T | CA390425839 | EIF2B2 | c.489G>T (p.Glu163Asp) c.462G>T (p.Glu154Asp) n.784G>T n.547G>T | |
14 | g.75004793G>A | CA390425845 | EIF2B2 | c.490G>A (p.Val164Met) c.463G>A (p.Val155Met) n.785G>A n.548G>A | dbSNP |
14 | g.75004793G>C | CA390425843 | EIF2B2 | c.490G>C (p.Val164Leu) c.463G>C (p.Val155Leu) n.785G>C n.548G>C | gnomAD v4 |
14 | g.75004793G= | CA2147299021 | EIF2B2 | c.490G= (p.Val164=) c.463G= (p.Val155=) n.785G= n.548G= | |
14 | g.75004793G>T | CA390425841 | EIF2B2 | c.490G>T (p.Val164Leu) c.463G>T (p.Val155Leu) n.785G>T n.548G>T | |
14 | g.75004794T>A | CA390425846 | EIF2B2 | c.491T>A (p.Val164Glu) c.464T>A (p.Val155Glu) n.786T>A n.549T>A | |
14 | g.75004794T>C | CA7274963 | EIF2B2 | c.491T>C (p.Val164Ala) c.464T>C (p.Val155Ala) n.786T>C n.549T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.75004794T>G | CA263654440 | EIF2B2 | c.491T>G (p.Val164Gly) c.464T>G (p.Val155Gly) n.786T>G n.549T>G | dbSNP |
14 | g.75004794T= | CA2147299022 | EIF2B2 | c.491T= (p.Val164=) c.464T= (p.Val155=) n.786T= n.549T= | |
14 | g.75004795G>A | CA487177027 | EIF2B2 | c.492G>A (p.Val164=) c.465G>A (p.Val155=) n.787G>A n.550G>A | |
14 | g.75004795G>C | CA487177028 | EIF2B2 | c.492G>C (p.Val164=) c.465G>C (p.Val155=) n.787G>C n.550G>C | |
14 | g.75004795G>T | CA487177029 | EIF2B2 | c.492G>T (p.Val164=) c.465G>T (p.Val155=) n.787G>T n.550G>T | |
14 | g.75004795_75004796dup | CA2147299023 | EIF2B2 | c.492_493dup (p.Ile165ArgfsTer3) c.465_466dup (p.Ile156ArgfsTer3) n.787_788dup n.550_551dup | dbSNP |
14 | g.75004796A= | CA2147299024 | EIF2B2 | c.493A= (p.Ile165=) c.466A= (p.Ile156=) n.788A= n.551A= | |
14 | g.75004796A>C | CA390425850 | EIF2B2 | c.493A>C (p.Ile165Leu) c.466A>C (p.Ile156Leu) n.788A>C n.551A>C | |
14 | g.75004796A>G | CA390425852 | EIF2B2 | c.493A>G (p.Ile165Val) c.466A>G (p.Ile156Val) n.788A>G n.551A>G | |
14 | g.75004796A>T | CA390425854 | EIF2B2 | c.493A>T (p.Ile165Phe) c.466A>T (p.Ile156Phe) n.788A>T n.551A>T | |
14 | g.75004797T>A | CA390425861 | EIF2B2 | c.494T>A (p.Ile165Asn) c.467T>A (p.Ile156Asn) n.789T>A n.552T>A | |
14 | g.75004797T>C | CA390425860 | EIF2B2 | c.494T>C (p.Ile165Thr) c.467T>C (p.Ile156Thr) n.789T>C n.552T>C | |
14 | g.75004797T>G | CA390425857 | EIF2B2 | c.494T>G (p.Ile165Ser) c.467T>G (p.Ile156Ser) n.789T>G n.552T>G | |
14 | g.75004797dup | CA7274964 | EIF2B2 | c.494dup (p.Met166HisfsTer?) c.467dup (p.Met157HisfsTer?) n.789dup n.552dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.75004798C>A | CA487177030 | EIF2B2 | c.495C>A (p.Ile165=) c.468C>A (p.Ile156=) n.790C>A n.553C>A | COSMIC |
14 | g.75004798C>G | CA390425862 | EIF2B2 | c.495C>G (p.Ile165Met) c.468C>G (p.Ile156Met) n.790C>G n.553C>G | |
14 | g.75004798C>T | CA487177031 | EIF2B2 | c.495C>T (p.Ile165=) c.468C>T (p.Ile156=) n.790C>T n.553C>T | COSMIC |
14 | g.75004799A= | CA2147299025 | EIF2B2 | c.496A= (p.Met166=) c.469A= (p.Met157=) n.791A= n.554A= | |
14 | g.75004799A>C | CA390425864 | EIF2B2 | c.496A>C (p.Met166Leu) c.469A>C (p.Met157Leu) n.791A>C n.554A>C | |
14 | g.75004799A>G | CA390425868 | EIF2B2 | c.496A>G (p.Met166Val) c.469A>G (p.Met157Val) n.791A>G n.554A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.75004799A>T | CA390425869 | EIF2B2 | c.496A>T (p.Met166Leu) c.469A>T (p.Met157Leu) n.791A>T n.554A>T | |
14 | g.75004800T>A | CA390425870 | EIF2B2 | c.497T>A (p.Met166Lys) c.470T>A (p.Met157Lys) n.792T>A n.555T>A | |
14 | g.75004800T>C | CA390425871 | EIF2B2 | c.497T>C (p.Met166Thr) c.470T>C (p.Met157Thr) n.792T>C n.555T>C | |
14 | g.75004800T>G | CA390425873 | EIF2B2 | c.497T>G (p.Met166Arg) c.470T>G (p.Met157Arg) n.792T>G n.555T>G | |
14 | g.75004801G>A | CA263654445 | EIF2B2 | c.498G>A (p.Met166Ile) c.471G>A (p.Met157Ile) n.793G>A n.556G>A | ClinVar dbSNP gnomAD v4 |
14 | g.75004801G>C | CA390425875 | EIF2B2 | c.498G>C (p.Met166Ile) c.471G>C (p.Met157Ile) n.793G>C n.556G>C | |
14 | g.75004801G= | CA2147299026 | EIF2B2 | c.498G= (p.Met166=) c.471G= (p.Met157=) n.793G= n.556G= | |
14 | g.75004801G>T | CA390425877 | EIF2B2 | c.498G>T (p.Met166Ile) c.471G>T (p.Met157Ile) n.793G>T n.556G>T | gnomAD v4 |