Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.27364693_27364699del | CA531764828 | EIF2B4,GTF3C2-AS2 | c.1372+22_1372+28del (n.1372+22_1372+28del) c.*638+22_*638+28del (n.*638+22_*638+28del) c.1369+22_1369+28del (n.1369+22_1369+28del) c.1432+22_1432+28del (n.1432+22_1432+28del) n.365+22_365+28del c.1435+22_1435+28del (n.1435+22_1435+28del) c.1363+22_1363+28del (n.1363+22_1363+28del) c.1327+22_1327+28del (n.1327+22_1327+28del) c.1324+22_1324+28del (n.1324+22_1324+28del) c.754+22_754+28del (n.754+22_754+28del) n.1772-2731_1772-2725del c.1279+22_1279+28del (n.1279+22_1279+28del) c.787+22_787+28del (n.787+22_787+28del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27364697G>A | CA2658336171 | EIF2B4,GTF3C2-AS2 | c.1372+21C>T (n.1372+21C>T) c.*638+21C>T (n.*638+21C>T) c.1369+21C>T (n.1369+21C>T) c.1432+21C>T (n.1432+21C>T) n.365+21C>T c.1435+21C>T (n.1435+21C>T) c.1363+21C>T (n.1363+21C>T) c.1327+21C>T (n.1327+21C>T) c.1324+21C>T (n.1324+21C>T) c.754+21C>T (n.754+21C>T) n.1772-2727G>A c.1279+21C>T (n.1279+21C>T) c.787+21C>T (n.787+21C>T) | gnomAD v4 |
2 | g.27364699T>C | CA2658336172 | EIF2B4,GTF3C2-AS2 | c.1372+19A>G (n.1372+19A>G) c.*638+19A>G (n.*638+19A>G) c.1369+19A>G (n.1369+19A>G) c.1432+19A>G (n.1432+19A>G) n.365+19A>G c.1435+19A>G (n.1435+19A>G) c.1363+19A>G (n.1363+19A>G) c.1327+19A>G (n.1327+19A>G) c.1324+19A>G (n.1324+19A>G) c.754+19A>G (n.754+19A>G) n.1772-2725T>C c.1279+19A>G (n.1279+19A>G) c.787+19A>G (n.787+19A>G) | ClinVar gnomAD v4 |
2 | g.27364699_27364701delinsTTC | CA1240242895 | EIF2B4,GTF3C2-AS2 | c.1372+17_1372+19delinsGAA (n.1372+17_1372+19delinsGAA) c.*638+17_*638+19delinsGAA (n.*638+17_*638+19delinsGAA) c.1369+17_1369+19delinsGAA (n.1369+17_1369+19delinsGAA) c.1432+17_1432+19delinsGAA (n.1432+17_1432+19delinsGAA) n.365+17_365+19delinsGAA c.1435+17_1435+19delinsGAA (n.1435+17_1435+19delinsGAA) c.1363+17_1363+19delinsGAA (n.1363+17_1363+19delinsGAA) c.1327+17_1327+19delinsGAA (n.1327+17_1327+19delinsGAA) c.1324+17_1324+19delinsGAA (n.1324+17_1324+19delinsGAA) c.754+17_754+19delinsGAA (n.754+17_754+19delinsGAA) n.1772-2725_1772-2723delinsTTC c.1279+17_1279+19delinsGAA (n.1279+17_1279+19delinsGAA) c.787+17_787+19delinsGAA (n.787+17_787+19delinsGAA) | |
2 | g.27364703_27364704del | CA1028681140 | EIF2B4,GTF3C2-AS2 | c.1372+17_1372+18del (n.1372+17_1372+18del) c.*638+17_*638+18del (n.*638+17_*638+18del) c.1369+17_1369+18del (n.1369+17_1369+18del) c.1432+17_1432+18del (n.1432+17_1432+18del) n.365+17_365+18del c.1435+17_1435+18del (n.1435+17_1435+18del) c.1363+17_1363+18del (n.1363+17_1363+18del) c.1327+17_1327+18del (n.1327+17_1327+18del) c.1324+17_1324+18del (n.1324+17_1324+18del) c.754+17_754+18del (n.754+17_754+18del) n.1772-2721_1772-2720del c.1279+17_1279+18del (n.1279+17_1279+18del) c.787+17_787+18del (n.787+17_787+18del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27364701C>A | CA531764830 | EIF2B4,GTF3C2-AS2 | c.1372+17G>T (n.1372+17G>T) c.*638+17G>T (n.*638+17G>T) c.1369+17G>T (n.1369+17G>T) c.1432+17G>T (n.1432+17G>T) n.365+17G>T c.1435+17G>T (n.1435+17G>T) c.1363+17G>T (n.1363+17G>T) c.1327+17G>T (n.1327+17G>T) c.1324+17G>T (n.1324+17G>T) c.754+17G>T (n.754+17G>T) n.1772-2723C>A c.1279+17G>T (n.1279+17G>T) c.787+17G>T (n.787+17G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27364701C= | CA1240242896 | EIF2B4,GTF3C2-AS2 | c.1372+17G= (n.1372+17G=) c.*638+17G= (n.*638+17G=) c.1369+17G= (n.1369+17G=) c.1432+17G= (n.1432+17G=) n.365+17G= c.1435+17G= (n.1435+17G=) c.1363+17G= (n.1363+17G=) c.1327+17G= (n.1327+17G=) c.1324+17G= (n.1324+17G=) c.754+17G= (n.754+17G=) n.1772-2723C= c.1279+17G= (n.1279+17G=) c.787+17G= (n.787+17G=) | |
2 | g.27364702T>C | CA44509495 | EIF2B4,GTF3C2-AS2 | c.1372+16A>G (n.1372+16A>G) c.*638+16A>G (n.*638+16A>G) c.1369+16A>G (n.1369+16A>G) c.1432+16A>G (n.1432+16A>G) n.365+16A>G c.1435+16A>G (n.1435+16A>G) c.1363+16A>G (n.1363+16A>G) c.1327+16A>G (n.1327+16A>G) c.1324+16A>G (n.1324+16A>G) c.754+16A>G (n.754+16A>G) n.1772-2722T>C c.1279+16A>G (n.1279+16A>G) c.787+16A>G (n.787+16A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364702T= | CA1240242897 | EIF2B4,GTF3C2-AS2 | c.1372+16A= (n.1372+16A=) c.*638+16A= (n.*638+16A=) c.1369+16A= (n.1369+16A=) c.1432+16A= (n.1432+16A=) n.365+16A= c.1435+16A= (n.1435+16A=) c.1363+16A= (n.1363+16A=) c.1327+16A= (n.1327+16A=) c.1324+16A= (n.1324+16A=) c.754+16A= (n.754+16A=) n.1772-2722T= c.1279+16A= (n.1279+16A=) c.787+16A= (n.787+16A=) | |
2 | g.27364707del | CA2658336173 | EIF2B4,GTF3C2-AS2 | c.1372+14del (n.1372+14del) c.*638+14del (n.*638+14del) c.1369+14del (n.1369+14del) c.1432+14del (n.1432+14del) n.365+14del c.1435+14del (n.1435+14del) c.1363+14del (n.1363+14del) c.1327+14del (n.1327+14del) c.1324+14del (n.1324+14del) c.754+14del (n.754+14del) n.1772-2717del c.1279+14del (n.1279+14del) c.787+14del (n.787+14del) | gnomAD v4 |
2 | g.27364705T>G | CA179998 | EIF2B4,GTF3C2-AS2 | c.1372+13A>C (n.1372+13A>C) c.*638+13A>C (n.*638+13A>C) c.1369+13A>C (n.1369+13A>C) c.1432+13A>C (n.1432+13A>C) n.365+13A>C c.1435+13A>C (n.1435+13A>C) c.1363+13A>C (n.1363+13A>C) c.1327+13A>C (n.1327+13A>C) c.1324+13A>C (n.1324+13A>C) c.754+13A>C (n.754+13A>C) n.1772-2719T>G c.1279+13A>C (n.1279+13A>C) c.787+13A>C (n.787+13A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364705T= | CA1240242898 | EIF2B4,GTF3C2-AS2 | c.1372+13A= (n.1372+13A=) c.*638+13A= (n.*638+13A=) c.1369+13A= (n.1369+13A=) c.1432+13A= (n.1432+13A=) n.365+13A= c.1435+13A= (n.1435+13A=) c.1363+13A= (n.1363+13A=) c.1327+13A= (n.1327+13A=) c.1324+13A= (n.1324+13A=) c.754+13A= (n.754+13A=) n.1772-2719T= c.1279+13A= (n.1279+13A=) c.787+13A= (n.787+13A=) | |
2 | g.27364706T>C | CA1576596 | EIF2B4,GTF3C2-AS2 | c.1372+12A>G (n.1372+12A>G) c.*638+12A>G (n.*638+12A>G) c.1369+12A>G (n.1369+12A>G) c.1432+12A>G (n.1432+12A>G) n.365+12A>G c.1435+12A>G (n.1435+12A>G) c.1363+12A>G (n.1363+12A>G) c.1327+12A>G (n.1327+12A>G) c.1324+12A>G (n.1324+12A>G) c.754+12A>G (n.754+12A>G) n.1772-2718T>C c.1279+12A>G (n.1279+12A>G) c.787+12A>G (n.787+12A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364706T= | CA1240242899 | EIF2B4,GTF3C2-AS2 | c.1372+12A= (n.1372+12A=) c.*638+12A= (n.*638+12A=) c.1369+12A= (n.1369+12A=) c.1432+12A= (n.1432+12A=) n.365+12A= c.1435+12A= (n.1435+12A=) c.1363+12A= (n.1363+12A=) c.1327+12A= (n.1327+12A=) c.1324+12A= (n.1324+12A=) c.754+12A= (n.754+12A=) n.1772-2718T= c.1279+12A= (n.1279+12A=) c.787+12A= (n.787+12A=) | |
2 | g.27364708G>C | CA1576597 | EIF2B4,GTF3C2-AS2 | c.1372+10C>G (n.1372+10C>G) c.*638+10C>G (n.*638+10C>G) c.1369+10C>G (n.1369+10C>G) c.1432+10C>G (n.1432+10C>G) n.365+10C>G c.1435+10C>G (n.1435+10C>G) c.1363+10C>G (n.1363+10C>G) c.1327+10C>G (n.1327+10C>G) c.1324+10C>G (n.1324+10C>G) c.754+10C>G (n.754+10C>G) n.1772-2716G>C c.1279+10C>G (n.1279+10C>G) c.787+10C>G (n.787+10C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27364708G= | CA1240242900 | EIF2B4,GTF3C2-AS2 | c.1372+10C= (n.1372+10C=) c.*638+10C= (n.*638+10C=) c.1369+10C= (n.1369+10C=) c.1432+10C= (n.1432+10C=) n.365+10C= c.1435+10C= (n.1435+10C=) c.1363+10C= (n.1363+10C=) c.1327+10C= (n.1327+10C=) c.1324+10C= (n.1324+10C=) c.754+10C= (n.754+10C=) n.1772-2716G= c.1279+10C= (n.1279+10C=) c.787+10C= (n.787+10C=) | |
2 | g.27364709C>A | CA2749264945 | EIF2B4,GTF3C2-AS2 | c.1372+9G>T (n.1372+9G>T) c.*638+9G>T (n.*638+9G>T) c.1369+9G>T (n.1369+9G>T) c.1432+9G>T (n.1432+9G>T) n.365+9G>T c.1435+9G>T (n.1435+9G>T) c.1363+9G>T (n.1363+9G>T) c.1327+9G>T (n.1327+9G>T) c.1324+9G>T (n.1324+9G>T) c.754+9G>T (n.754+9G>T) n.1772-2715C>A c.1279+9G>T (n.1279+9G>T) c.787+9G>T (n.787+9G>T) | |
2 | g.27364709C= | CA1240242901 | EIF2B4,GTF3C2-AS2 | c.1372+9G= (n.1372+9G=) c.*638+9G= (n.*638+9G=) c.1369+9G= (n.1369+9G=) c.1432+9G= (n.1432+9G=) n.365+9G= c.1435+9G= (n.1435+9G=) c.1363+9G= (n.1363+9G=) c.1327+9G= (n.1327+9G=) c.1324+9G= (n.1324+9G=) c.754+9G= (n.754+9G=) n.1772-2715C= c.1279+9G= (n.1279+9G=) c.787+9G= (n.787+9G=) | |
2 | g.27364709C>T | CA44509537 | EIF2B4,GTF3C2-AS2 | c.1372+9G>A (n.1372+9G>A) c.*638+9G>A (n.*638+9G>A) c.1369+9G>A (n.1369+9G>A) c.1432+9G>A (n.1432+9G>A) n.365+9G>A c.1435+9G>A (n.1435+9G>A) c.1363+9G>A (n.1363+9G>A) c.1327+9G>A (n.1327+9G>A) c.1324+9G>A (n.1324+9G>A) c.754+9G>A (n.754+9G>A) n.1772-2715C>T c.1279+9G>A (n.1279+9G>A) c.787+9G>A (n.787+9G>A) | ClinVar dbSNP |
2 | g.27364710C= | CA1240242902 | EIF2B4,GTF3C2-AS2 | c.1372+8G= (n.1372+8G=) c.*638+8G= (n.*638+8G=) c.1369+8G= (n.1369+8G=) c.1432+8G= (n.1432+8G=) n.365+8G= c.1435+8G= (n.1435+8G=) c.1363+8G= (n.1363+8G=) c.1327+8G= (n.1327+8G=) c.1324+8G= (n.1324+8G=) c.754+8G= (n.754+8G=) n.1772-2714C= c.1279+8G= (n.1279+8G=) c.787+8G= (n.787+8G=) | |
2 | g.27364710C>T | CA44509543 | EIF2B4,GTF3C2-AS2 | c.1372+8G>A (n.1372+8G>A) c.*638+8G>A (n.*638+8G>A) c.1369+8G>A (n.1369+8G>A) c.1432+8G>A (n.1432+8G>A) n.365+8G>A c.1435+8G>A (n.1435+8G>A) c.1363+8G>A (n.1363+8G>A) c.1327+8G>A (n.1327+8G>A) c.1324+8G>A (n.1324+8G>A) c.754+8G>A (n.754+8G>A) n.1772-2714C>T c.1279+8G>A (n.1279+8G>A) c.787+8G>A (n.787+8G>A) | dbSNP |
2 | g.27364712C= | CA1240242903 | EIF2B4,GTF3C2-AS2 | c.1372+6G= (n.1372+6G=) c.*638+6G= (n.*638+6G=) c.1369+6G= (n.1369+6G=) c.1432+6G= (n.1432+6G=) n.365+6G= c.1435+6G= (n.1435+6G=) c.1363+6G= (n.1363+6G=) c.1327+6G= (n.1327+6G=) c.1324+6G= (n.1324+6G=) c.754+6G= (n.754+6G=) n.1772-2712C= c.1279+6G= (n.1279+6G=) c.787+6G= (n.787+6G=) | |
2 | g.27364712C>T | CA44509557 | EIF2B4,GTF3C2-AS2 | c.1372+6G>A (n.1372+6G>A) c.*638+6G>A (n.*638+6G>A) c.1369+6G>A (n.1369+6G>A) c.1432+6G>A (n.1432+6G>A) n.365+6G>A c.1435+6G>A (n.1435+6G>A) c.1363+6G>A (n.1363+6G>A) c.1327+6G>A (n.1327+6G>A) c.1324+6G>A (n.1324+6G>A) c.754+6G>A (n.754+6G>A) n.1772-2712C>T c.1279+6G>A (n.1279+6G>A) c.787+6G>A (n.787+6G>A) | dbSNP |
2 | g.27364713C>G | CA2658336174 | EIF2B4,GTF3C2-AS2 | c.1372+5G>C (n.1372+5G>C) c.*638+5G>C (n.*638+5G>C) c.1369+5G>C (n.1369+5G>C) c.1432+5G>C (n.1432+5G>C) n.365+5G>C c.1435+5G>C (n.1435+5G>C) c.1363+5G>C (n.1363+5G>C) c.1327+5G>C (n.1327+5G>C) c.1324+5G>C (n.1324+5G>C) c.754+5G>C (n.754+5G>C) n.1772-2711C>G c.1279+5G>C (n.1279+5G>C) c.787+5G>C (n.787+5G>C) | gnomAD v4 |
2 | g.27364714T>C | CA531764831 | EIF2B4,GTF3C2-AS2 | c.1372+4A>G (n.1372+4A>G) c.*638+4A>G (n.*638+4A>G) c.1369+4A>G (n.1369+4A>G) c.1432+4A>G (n.1432+4A>G) n.365+4A>G c.1435+4A>G (n.1435+4A>G) c.1363+4A>G (n.1363+4A>G) c.1327+4A>G (n.1327+4A>G) c.1324+4A>G (n.1324+4A>G) c.754+4A>G (n.754+4A>G) n.1772-2710T>C c.1279+4A>G (n.1279+4A>G) c.787+4A>G (n.787+4A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364714T= | CA1240242904 | EIF2B4,GTF3C2-AS2 | c.1372+4A= (n.1372+4A=) c.*638+4A= (n.*638+4A=) c.1369+4A= (n.1369+4A=) c.1432+4A= (n.1432+4A=) n.365+4A= c.1435+4A= (n.1435+4A=) c.1363+4A= (n.1363+4A=) c.1327+4A= (n.1327+4A=) c.1324+4A= (n.1324+4A=) c.754+4A= (n.754+4A=) n.1772-2710T= c.1279+4A= (n.1279+4A=) c.787+4A= (n.787+4A=) | |
2 | g.27364715T= | CA1240242905 | EIF2B4,GTF3C2-AS2 | c.1372+3A= (n.1372+3A=) c.*638+3A= (n.*638+3A=) c.1369+3A= (n.1369+3A=) c.1432+3A= (n.1432+3A=) n.365+3A= c.1435+3A= (n.1435+3A=) c.1363+3A= (n.1363+3A=) c.1327+3A= (n.1327+3A=) c.1324+3A= (n.1324+3A=) c.754+3A= (n.754+3A=) n.1772-2709T= c.1279+3A= (n.1279+3A=) c.787+3A= (n.787+3A=) | |
2 | g.27364716A>C | CA346196823 | EIF2B4,GTF3C2-AS2 | c.1372+2T>G (n.1372+2T>G) c.*638+2T>G (n.*638+2T>G) c.1369+2T>G (n.1369+2T>G) c.1432+2T>G (n.1432+2T>G) n.365+2T>G c.1435+2T>G (n.1435+2T>G) c.1363+2T>G (n.1363+2T>G) c.1327+2T>G (n.1327+2T>G) c.1324+2T>G (n.1324+2T>G) c.754+2T>G (n.754+2T>G) n.1772-2708A>C c.1279+2T>G (n.1279+2T>G) c.787+2T>G (n.787+2T>G) | |
2 | g.27364716A>G | CA346196825 | EIF2B4,GTF3C2-AS2 | c.1372+2T>C (n.1372+2T>C) c.*638+2T>C (n.*638+2T>C) c.1369+2T>C (n.1369+2T>C) c.1432+2T>C (n.1432+2T>C) n.365+2T>C c.1435+2T>C (n.1435+2T>C) c.1363+2T>C (n.1363+2T>C) c.1327+2T>C (n.1327+2T>C) c.1324+2T>C (n.1324+2T>C) c.754+2T>C (n.754+2T>C) n.1772-2708A>G c.1279+2T>C (n.1279+2T>C) c.787+2T>C (n.787+2T>C) | |
2 | g.27364716A>T | CA346196824 | EIF2B4,GTF3C2-AS2 | c.1372+2T>A (n.1372+2T>A) c.*638+2T>A (n.*638+2T>A) c.1369+2T>A (n.1369+2T>A) c.1432+2T>A (n.1432+2T>A) n.365+2T>A c.1435+2T>A (n.1435+2T>A) c.1363+2T>A (n.1363+2T>A) c.1327+2T>A (n.1327+2T>A) c.1324+2T>A (n.1324+2T>A) c.754+2T>A (n.754+2T>A) n.1772-2708A>T c.1279+2T>A (n.1279+2T>A) c.787+2T>A (n.787+2T>A) | |
2 | g.27364716dup | CA425409832 | EIF2B4,GTF3C2-AS2 | c.1372+2dup (n.1372+2dup) c.*638+2dup (n.*638+2dup) c.1369+2dup (n.1369+2dup) c.1432+2dup (n.1432+2dup) n.365+2dup c.1435+2dup (n.1435+2dup) c.1363+2dup (n.1363+2dup) c.1327+2dup (n.1327+2dup) c.1324+2dup (n.1324+2dup) c.754+2dup (n.754+2dup) n.1772-2708dup c.1279+2dup (n.1279+2dup) c.787+2dup (n.787+2dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364717C>A | CA346196826 | EIF2B4,GTF3C2-AS2 | c.1372+1G>T (n.1372+1G>T) c.*638+1G>T (n.*638+1G>T) c.1369+1G>T (n.1369+1G>T) c.1432+1G>T (n.1432+1G>T) n.365+1G>T c.1435+1G>T (n.1435+1G>T) c.1363+1G>T (n.1363+1G>T) c.1327+1G>T (n.1327+1G>T) c.1324+1G>T (n.1324+1G>T) c.754+1G>T (n.754+1G>T) n.1772-2707C>A c.1279+1G>T (n.1279+1G>T) c.787+1G>T (n.787+1G>T) | |
2 | g.27364717C>G | CA346196827 | EIF2B4,GTF3C2-AS2 | c.1372+1G>C (n.1372+1G>C) c.*638+1G>C (n.*638+1G>C) c.1369+1G>C (n.1369+1G>C) c.1432+1G>C (n.1432+1G>C) n.365+1G>C c.1435+1G>C (n.1435+1G>C) c.1363+1G>C (n.1363+1G>C) c.1327+1G>C (n.1327+1G>C) c.1324+1G>C (n.1324+1G>C) c.754+1G>C (n.754+1G>C) n.1772-2707C>G c.1279+1G>C (n.1279+1G>C) c.787+1G>C (n.787+1G>C) | |
2 | g.27364717C>T | CA346196828 | EIF2B4,GTF3C2-AS2 | c.1372+1G>A (n.1372+1G>A) c.*638+1G>A (n.*638+1G>A) c.1369+1G>A (n.1369+1G>A) c.1432+1G>A (n.1432+1G>A) n.365+1G>A c.1435+1G>A (n.1435+1G>A) c.1363+1G>A (n.1363+1G>A) c.1327+1G>A (n.1327+1G>A) c.1324+1G>A (n.1324+1G>A) c.754+1G>A (n.754+1G>A) n.1772-2707C>T c.1279+1G>A (n.1279+1G>A) c.787+1G>A (n.787+1G>A) | |
2 | g.27364718dup | CA2586968819 | EIF2B4,GTF3C2-AS2 | c.1372+1dup c.*638+1dup c.1369+1dup c.1432+1dup n.365+1dup c.1435+1dup c.1363+1dup c.1327+1dup c.1324+1dup c.754+1dup n.1772-2706dup c.1279+1dup c.787+1dup | |
2 | g.27364718C>A | CA346196829 | EIF2B4,GTF3C2-AS2 | c.1372G>T (p.Asp458Tyr) c.*638G>T (n.*638G>T) c.1369G>T (p.Asp457Tyr) c.1432G>T (p.Asp478Tyr) n.365G>T c.1435G>T (p.Asp479Tyr) c.1363G>T (p.Asp455Tyr) c.1327G>T (p.Asp443Tyr) c.1324G>T (p.Asp442Tyr) c.754G>T (p.Asp252Tyr) n.1772-2706C>A c.1279G>T (p.Asp427Tyr) c.787G>T (p.Asp263Tyr) | |
2 | g.27364718C>G | CA346196830 | EIF2B4,GTF3C2-AS2 | c.1372G>C (p.Asp458His) c.*638G>C (n.*638G>C) c.1369G>C (p.Asp457His) c.1432G>C (p.Asp478His) n.365G>C c.1435G>C (p.Asp479His) c.1363G>C (p.Asp455His) c.1327G>C (p.Asp443His) c.1324G>C (p.Asp442His) c.754G>C (p.Asp252His) n.1772-2706C>G c.1279G>C (p.Asp427His) c.787G>C (p.Asp263His) | |
2 | g.27364718C>T | CA346196831 | EIF2B4,GTF3C2-AS2 | c.1372G>A (p.Asp458Asn) c.*638G>A (n.*638G>A) c.1369G>A (p.Asp457Asn) c.1432G>A (p.Asp478Asn) n.365G>A c.1435G>A (p.Asp479Asn) c.1363G>A (p.Asp455Asn) c.1327G>A (p.Asp443Asn) c.1324G>A (p.Asp442Asn) c.754G>A (p.Asp252Asn) n.1772-2706C>T c.1279G>A (p.Asp427Asn) c.787G>A (p.Asp263Asn) | |
2 | g.27364719T>A | CA425409833 | EIF2B4,GTF3C2-AS2 | c.1371A>T (p.Leu457=) c.*637A>T (n.*637A>T) c.1368A>T (p.Leu456=) c.1431A>T (p.Leu477=) n.364A>T c.1434A>T (p.Leu478=) c.1362A>T (p.Leu454=) c.1326A>T (p.Leu442=) c.1323A>T (p.Leu441=) c.753A>T (p.Leu251=) n.1772-2705T>A c.1278A>T (p.Leu426=) c.786A>T (p.Leu262=) | |
2 | g.27364719T>C | CA425409834 | EIF2B4,GTF3C2-AS2 | c.1371A>G (p.Leu457=) c.*637A>G (n.*637A>G) c.1368A>G (p.Leu456=) c.1431A>G (p.Leu477=) n.364A>G c.1434A>G (p.Leu478=) c.1362A>G (p.Leu454=) c.1326A>G (p.Leu442=) c.1323A>G (p.Leu441=) c.753A>G (p.Leu251=) n.1772-2705T>C c.1278A>G (p.Leu426=) c.786A>G (p.Leu262=) | |
2 | g.27364719T>G | CA425409835 | EIF2B4,GTF3C2-AS2 | c.1371A>C (p.Leu457=) c.*637A>C (n.*637A>C) c.1368A>C (p.Leu456=) c.1431A>C (p.Leu477=) n.364A>C c.1434A>C (p.Leu478=) c.1362A>C (p.Leu454=) c.1326A>C (p.Leu442=) c.1323A>C (p.Leu441=) c.753A>C (p.Leu251=) n.1772-2705T>G c.1278A>C (p.Leu426=) c.786A>C (p.Leu262=) | |
2 | g.27364720A>C | CA346196832 | EIF2B4,GTF3C2-AS2 | c.1370T>G (p.Leu457Arg) c.*636T>G (n.*636T>G) c.1367T>G (p.Leu456Arg) c.1430T>G (p.Leu477Arg) n.363T>G c.1433T>G (p.Leu478Arg) c.1361T>G (p.Leu454Arg) c.1325T>G (p.Leu442Arg) c.1322T>G (p.Leu441Arg) c.752T>G (p.Leu251Arg) n.1772-2704A>C c.1277T>G (p.Leu426Arg) c.785T>G (p.Leu262Arg) | |
2 | g.27364720A>G | CA346196833 | EIF2B4,GTF3C2-AS2 | c.1370T>C (p.Leu457Pro) c.*636T>C (n.*636T>C) c.1367T>C (p.Leu456Pro) c.1430T>C (p.Leu477Pro) n.363T>C c.1433T>C (p.Leu478Pro) c.1361T>C (p.Leu454Pro) c.1325T>C (p.Leu442Pro) c.1322T>C (p.Leu441Pro) c.752T>C (p.Leu251Pro) n.1772-2704A>G c.1277T>C (p.Leu426Pro) c.785T>C (p.Leu262Pro) | |
2 | g.27364720A>T | CA346196834 | EIF2B4,GTF3C2-AS2 | c.1370T>A (p.Leu457Gln) c.*636T>A (n.*636T>A) c.1367T>A (p.Leu456Gln) c.1430T>A (p.Leu477Gln) n.363T>A c.1433T>A (p.Leu478Gln) c.1361T>A (p.Leu454Gln) c.1325T>A (p.Leu442Gln) c.1322T>A (p.Leu441Gln) c.752T>A (p.Leu251Gln) n.1772-2704A>T c.1277T>A (p.Leu426Gln) c.785T>A (p.Leu262Gln) | |
2 | g.27364721G>A | CA425409837 | EIF2B4,GTF3C2-AS2 | c.1369C>T (p.Leu457=) c.*635C>T (n.*635C>T) c.1366C>T (p.Leu456=) c.1429C>T (p.Leu477=) n.362C>T c.1432C>T (p.Leu478=) c.1360C>T (p.Leu454=) c.1324C>T (p.Leu442=) c.1321C>T (p.Leu441=) c.751C>T (p.Leu251=) n.1772-2703G>A c.1276C>T (p.Leu426=) c.784C>T (p.Leu262=) | |
2 | g.27364721G>C | CA346196835 | EIF2B4,GTF3C2-AS2 | c.1369C>G (p.Leu457Val) c.*635C>G (n.*635C>G) c.1366C>G (p.Leu456Val) c.1429C>G (p.Leu477Val) n.362C>G c.1432C>G (p.Leu478Val) c.1360C>G (p.Leu454Val) c.1324C>G (p.Leu442Val) c.1321C>G (p.Leu441Val) c.751C>G (p.Leu251Val) n.1772-2703G>C c.1276C>G (p.Leu426Val) c.784C>G (p.Leu262Val) | COSMIC COSMIC |
2 | g.27364721G>T | CA346196836 | EIF2B4,GTF3C2-AS2 | c.1369C>A (p.Leu457Ile) c.*635C>A (n.*635C>A) c.1366C>A (p.Leu456Ile) c.1429C>A (p.Leu477Ile) n.362C>A c.1432C>A (p.Leu478Ile) c.1360C>A (p.Leu454Ile) c.1324C>A (p.Leu442Ile) c.1321C>A (p.Leu441Ile) c.751C>A (p.Leu251Ile) n.1772-2703G>T c.1276C>A (p.Leu426Ile) c.784C>A (p.Leu262Ile) | |
2 | g.27364722C>A | CA346196837 | EIF2B4,GTF3C2-AS2 | c.1368G>T (p.Glu456Asp) c.*634G>T (n.*634G>T) c.1365G>T (p.Glu455Asp) c.1428G>T (p.Glu476Asp) n.361G>T c.1431G>T (p.Glu477Asp) c.1359G>T (p.Glu453Asp) c.1323G>T (p.Glu441Asp) c.1320G>T (p.Glu440Asp) c.750G>T (p.Glu250Asp) n.1772-2702C>A c.1275G>T (p.Glu425Asp) c.783G>T (p.Glu261Asp) | |
2 | g.27364722C>G | CA346196838 | EIF2B4,GTF3C2-AS2 | c.1368G>C (p.Glu456Asp) c.*634G>C (n.*634G>C) c.1365G>C (p.Glu455Asp) c.1428G>C (p.Glu476Asp) n.361G>C c.1431G>C (p.Glu477Asp) c.1359G>C (p.Glu453Asp) c.1323G>C (p.Glu441Asp) c.1320G>C (p.Glu440Asp) c.750G>C (p.Glu250Asp) n.1772-2702C>G c.1275G>C (p.Glu425Asp) c.783G>C (p.Glu261Asp) | |
2 | g.27364722C>T | CA425409840 | EIF2B4,GTF3C2-AS2 | c.1368G>A (p.Glu456=) c.*634G>A (n.*634G>A) c.1365G>A (p.Glu455=) c.1428G>A (p.Glu476=) n.361G>A c.1431G>A (p.Glu477=) c.1359G>A (p.Glu453=) c.1323G>A (p.Glu441=) c.1320G>A (p.Glu440=) c.750G>A (p.Glu250=) n.1772-2702C>T c.1275G>A (p.Glu425=) c.783G>A (p.Glu261=) | gnomAD v4 |
2 | g.27364723T>A | CA346196839 | EIF2B4,GTF3C2-AS2 | c.1367A>T (p.Glu456Val) c.*633A>T (n.*633A>T) c.1364A>T (p.Glu455Val) c.1427A>T (p.Glu476Val) n.360A>T c.1430A>T (p.Glu477Val) c.1358A>T (p.Glu453Val) c.1322A>T (p.Glu441Val) c.1319A>T (p.Glu440Val) c.749A>T (p.Glu250Val) n.1772-2701T>A c.1274A>T (p.Glu425Val) c.782A>T (p.Glu261Val) | |
2 | g.27364723T>C | CA346196841 | EIF2B4,GTF3C2-AS2 | c.1367A>G (p.Glu456Gly) c.*633A>G (n.*633A>G) c.1364A>G (p.Glu455Gly) c.1427A>G (p.Glu476Gly) n.360A>G c.1430A>G (p.Glu477Gly) c.1358A>G (p.Glu453Gly) c.1322A>G (p.Glu441Gly) c.1319A>G (p.Glu440Gly) c.749A>G (p.Glu250Gly) n.1772-2701T>C c.1274A>G (p.Glu425Gly) c.782A>G (p.Glu261Gly) | |
2 | g.27364723T>G | CA346196840 | EIF2B4,GTF3C2-AS2 | c.1367A>C (p.Glu456Ala) c.*633A>C (n.*633A>C) c.1364A>C (p.Glu455Ala) c.1427A>C (p.Glu476Ala) n.360A>C c.1430A>C (p.Glu477Ala) c.1358A>C (p.Glu453Ala) c.1322A>C (p.Glu441Ala) c.1319A>C (p.Glu440Ala) c.749A>C (p.Glu250Ala) n.1772-2701T>G c.1274A>C (p.Glu425Ala) c.782A>C (p.Glu261Ala) | |
2 | g.27364724C>A | CA346196842 | EIF2B4,GTF3C2-AS2 | c.1366G>T (p.Glu456Ter) c.*632G>T (n.*632G>T) c.1363G>T (p.Glu455Ter) c.1426G>T (p.Glu476Ter) n.359G>T c.1429G>T (p.Glu477Ter) c.1357G>T (p.Glu453Ter) c.1321G>T (p.Glu441Ter) c.1318G>T (p.Glu440Ter) c.748G>T (p.Glu250Ter) n.1772-2700C>A c.1273G>T (p.Glu425Ter) c.781G>T (p.Glu261Ter) | |
2 | g.27364724C>G | CA346196843 | EIF2B4,GTF3C2-AS2 | c.1366G>C (p.Glu456Gln) c.*632G>C (n.*632G>C) c.1363G>C (p.Glu455Gln) c.1426G>C (p.Glu476Gln) n.359G>C c.1429G>C (p.Glu477Gln) c.1357G>C (p.Glu453Gln) c.1321G>C (p.Glu441Gln) c.1318G>C (p.Glu440Gln) c.748G>C (p.Glu250Gln) n.1772-2700C>G c.1273G>C (p.Glu425Gln) c.781G>C (p.Glu261Gln) | |
2 | g.27364724C>T | CA346196844 | EIF2B4,GTF3C2-AS2 | c.1366G>A (p.Glu456Lys) c.*632G>A (n.*632G>A) c.1363G>A (p.Glu455Lys) c.1426G>A (p.Glu476Lys) n.359G>A c.1429G>A (p.Glu477Lys) c.1357G>A (p.Glu453Lys) c.1321G>A (p.Glu441Lys) c.1318G>A (p.Glu440Lys) c.748G>A (p.Glu250Lys) n.1772-2700C>T c.1273G>A (p.Glu425Lys) c.781G>A (p.Glu261Lys) | |
2 | g.27364725A= | CA1240242906 | EIF2B4,GTF3C2-AS2 | c.1365T= (p.Asn455=) c.*631T= (n.*631T=) c.1362T= (p.Asn454=) c.1425T= (p.Asn475=) n.358T= c.1428T= (p.Asn476=) c.1356T= (p.Asn452=) c.1320T= (p.Asn440=) c.1317T= (p.Asn439=) c.747T= (p.Asn249=) n.1772-2699A= c.1272T= (p.Asn424=) c.780T= (p.Asn260=) | |
2 | g.27364725A>C | CA346196845 | EIF2B4,GTF3C2-AS2 | c.1365T>G (p.Asn455Lys) c.*631T>G (n.*631T>G) c.1362T>G (p.Asn454Lys) c.1425T>G (p.Asn475Lys) n.358T>G c.1428T>G (p.Asn476Lys) c.1356T>G (p.Asn452Lys) c.1320T>G (p.Asn440Lys) c.1317T>G (p.Asn439Lys) c.747T>G (p.Asn249Lys) n.1772-2699A>C c.1272T>G (p.Asn424Lys) c.780T>G (p.Asn260Lys) | |
2 | g.27364725A>G | CA425409843 | EIF2B4,GTF3C2-AS2 | c.1365T>C (p.Asn455=) c.*631T>C (n.*631T>C) c.1362T>C (p.Asn454=) c.1425T>C (p.Asn475=) n.358T>C c.1428T>C (p.Asn476=) c.1356T>C (p.Asn452=) c.1320T>C (p.Asn440=) c.1317T>C (p.Asn439=) c.747T>C (p.Asn249=) n.1772-2699A>G c.1272T>C (p.Asn424=) c.780T>C (p.Asn260=) | |
2 | g.27364725A>T | CA346196846 | EIF2B4,GTF3C2-AS2 | c.1365T>A (p.Asn455Lys) c.*631T>A (n.*631T>A) c.1362T>A (p.Asn454Lys) c.1425T>A (p.Asn475Lys) n.358T>A c.1428T>A (p.Asn476Lys) c.1356T>A (p.Asn452Lys) c.1320T>A (p.Asn440Lys) c.1317T>A (p.Asn439Lys) c.747T>A (p.Asn249Lys) n.1772-2699A>T c.1272T>A (p.Asn424Lys) c.780T>A (p.Asn260Lys) | ClinVar dbSNP |
2 | g.27364726T>A | CA346196847 | EIF2B4,GTF3C2-AS2 | c.1364A>T (p.Asn455Ile) c.*630A>T (n.*630A>T) c.1361A>T (p.Asn454Ile) c.1424A>T (p.Asn475Ile) n.357A>T c.1427A>T (p.Asn476Ile) c.1355A>T (p.Asn452Ile) c.1319A>T (p.Asn440Ile) c.1316A>T (p.Asn439Ile) c.746A>T (p.Asn249Ile) n.1772-2698T>A c.1271A>T (p.Asn424Ile) c.779A>T (p.Asn260Ile) | |
2 | g.27364726T>C | CA346196848 | EIF2B4,GTF3C2-AS2 | c.1364A>G (p.Asn455Ser) c.*630A>G (n.*630A>G) c.1361A>G (p.Asn454Ser) c.1424A>G (p.Asn475Ser) n.357A>G c.1427A>G (p.Asn476Ser) c.1355A>G (p.Asn452Ser) c.1319A>G (p.Asn440Ser) c.1316A>G (p.Asn439Ser) c.746A>G (p.Asn249Ser) n.1772-2698T>C c.1271A>G (p.Asn424Ser) c.779A>G (p.Asn260Ser) | |
2 | g.27364726T>G | CA346196849 | EIF2B4,GTF3C2-AS2 | c.1364A>C (p.Asn455Thr) c.*630A>C (n.*630A>C) c.1361A>C (p.Asn454Thr) c.1424A>C (p.Asn475Thr) n.357A>C c.1427A>C (p.Asn476Thr) c.1355A>C (p.Asn452Thr) c.1319A>C (p.Asn440Thr) c.1316A>C (p.Asn439Thr) c.746A>C (p.Asn249Thr) n.1772-2698T>G c.1271A>C (p.Asn424Thr) c.779A>C (p.Asn260Thr) | |
2 | g.27364727T>A | CA346196850 | EIF2B4,GTF3C2-AS2 | c.1363A>T (p.Asn455Tyr) c.*629A>T (n.*629A>T) c.1360A>T (p.Asn454Tyr) c.1423A>T (p.Asn475Tyr) n.356A>T c.1426A>T (p.Asn476Tyr) c.1354A>T (p.Asn452Tyr) c.1318A>T (p.Asn440Tyr) c.1315A>T (p.Asn439Tyr) c.745A>T (p.Asn249Tyr) n.1772-2697T>A c.1270A>T (p.Asn424Tyr) c.778A>T (p.Asn260Tyr) | |
2 | g.27364727T>C | CA346196851 | EIF2B4,GTF3C2-AS2 | c.1363A>G (p.Asn455Asp) c.*629A>G (n.*629A>G) c.1360A>G (p.Asn454Asp) c.1423A>G (p.Asn475Asp) n.356A>G c.1426A>G (p.Asn476Asp) c.1354A>G (p.Asn452Asp) c.1318A>G (p.Asn440Asp) c.1315A>G (p.Asn439Asp) c.745A>G (p.Asn249Asp) n.1772-2697T>C c.1270A>G (p.Asn424Asp) c.778A>G (p.Asn260Asp) | |
2 | g.27364727T>G | CA346196852 | EIF2B4,GTF3C2-AS2 | c.1363A>C (p.Asn455His) c.*629A>C (n.*629A>C) c.1360A>C (p.Asn454His) c.1423A>C (p.Asn475His) n.356A>C c.1426A>C (p.Asn476His) c.1354A>C (p.Asn452His) c.1318A>C (p.Asn440His) c.1315A>C (p.Asn439His) c.745A>C (p.Asn249His) n.1772-2697T>G c.1270A>C (p.Asn424His) c.778A>C (p.Asn260His) | |
2 | g.27364728A>C | CA425409846 | EIF2B4,GTF3C2-AS2 | c.1362T>G (p.Ser454=) c.*628T>G (n.*628T>G) c.1359T>G (p.Ser453=) c.1422T>G (p.Ser474=) n.355T>G c.1425T>G (p.Ser475=) c.1353T>G (p.Ser451=) c.1317T>G (p.Ser439=) c.1314T>G (p.Ser438=) c.744T>G (p.Ser248=) n.1772-2696A>C c.1269T>G (p.Ser423=) c.777T>G (p.Ser259=) | |
2 | g.27364728A>G | CA425409847 | EIF2B4,GTF3C2-AS2 | c.1362T>C (p.Ser454=) c.*628T>C (n.*628T>C) c.1359T>C (p.Ser453=) c.1422T>C (p.Ser474=) n.355T>C c.1425T>C (p.Ser475=) c.1353T>C (p.Ser451=) c.1317T>C (p.Ser439=) c.1314T>C (p.Ser438=) c.744T>C (p.Ser248=) n.1772-2696A>G c.1269T>C (p.Ser423=) c.777T>C (p.Ser259=) | |
2 | g.27364728A>T | CA425409848 | EIF2B4,GTF3C2-AS2 | c.1362T>A (p.Ser454=) c.*628T>A (n.*628T>A) c.1359T>A (p.Ser453=) c.1422T>A (p.Ser474=) n.355T>A c.1425T>A (p.Ser475=) c.1353T>A (p.Ser451=) c.1317T>A (p.Ser439=) c.1314T>A (p.Ser438=) c.744T>A (p.Ser248=) n.1772-2696A>T c.1269T>A (p.Ser423=) c.777T>A (p.Ser259=) | |
2 | g.27364729G>A | CA346196854 | EIF2B4,GTF3C2-AS2 | c.1361C>T (p.Ser454Phe) c.*627C>T (n.*627C>T) c.1358C>T (p.Ser453Phe) c.1421C>T (p.Ser474Phe) n.354C>T c.1424C>T (p.Ser475Phe) c.1352C>T (p.Ser451Phe) c.1316C>T (p.Ser439Phe) c.1313C>T (p.Ser438Phe) c.743C>T (p.Ser248Phe) n.1772-2695G>A c.1268C>T (p.Ser423Phe) c.776C>T (p.Ser259Phe) | |
2 | g.27364729G>C | CA346196855 | EIF2B4,GTF3C2-AS2 | c.1361C>G (p.Ser454Cys) c.*627C>G (n.*627C>G) c.1358C>G (p.Ser453Cys) c.1421C>G (p.Ser474Cys) n.354C>G c.1424C>G (p.Ser475Cys) c.1352C>G (p.Ser451Cys) c.1316C>G (p.Ser439Cys) c.1313C>G (p.Ser438Cys) c.743C>G (p.Ser248Cys) n.1772-2695G>C c.1268C>G (p.Ser423Cys) c.776C>G (p.Ser259Cys) | gnomAD v4 |
2 | g.27364729G>T | CA346196853 | EIF2B4,GTF3C2-AS2 | c.1361C>A (p.Ser454Tyr) c.*627C>A (n.*627C>A) c.1358C>A (p.Ser453Tyr) c.1421C>A (p.Ser474Tyr) n.354C>A c.1424C>A (p.Ser475Tyr) c.1352C>A (p.Ser451Tyr) c.1316C>A (p.Ser439Tyr) c.1313C>A (p.Ser438Tyr) c.743C>A (p.Ser248Tyr) n.1772-2695G>T c.1268C>A (p.Ser423Tyr) c.776C>A (p.Ser259Tyr) | |
2 | g.27364730A= | CA1240242907 | EIF2B4,GTF3C2-AS2 | c.1360T= (p.Ser454=) c.*626T= (n.*626T=) c.1357T= (p.Ser453=) c.1420T= (p.Ser474=) n.353T= c.1423T= (p.Ser475=) c.1351T= (p.Ser451=) c.1315T= (p.Ser439=) c.1312T= (p.Ser438=) c.742T= (p.Ser248=) n.1772-2694A= c.1267T= (p.Ser423=) c.775T= (p.Ser259=) | |
2 | g.27364730A>C | CA1576598 | EIF2B4,GTF3C2-AS2 | c.1360T>G (p.Ser454Ala) c.*626T>G (n.*626T>G) c.1357T>G (p.Ser453Ala) c.1420T>G (p.Ser474Ala) n.353T>G c.1423T>G (p.Ser475Ala) c.1351T>G (p.Ser451Ala) c.1315T>G (p.Ser439Ala) c.1312T>G (p.Ser438Ala) c.742T>G (p.Ser248Ala) n.1772-2694A>C c.1267T>G (p.Ser423Ala) c.775T>G (p.Ser259Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27364730A>G | CA346196856 | EIF2B4,GTF3C2-AS2 | c.1360T>C (p.Ser454Pro) c.*626T>C (n.*626T>C) c.1357T>C (p.Ser453Pro) c.1420T>C (p.Ser474Pro) n.353T>C c.1423T>C (p.Ser475Pro) c.1351T>C (p.Ser451Pro) c.1315T>C (p.Ser439Pro) c.1312T>C (p.Ser438Pro) c.742T>C (p.Ser248Pro) n.1772-2694A>G c.1267T>C (p.Ser423Pro) c.775T>C (p.Ser259Pro) | |
2 | g.27364730A>T | CA346196857 | EIF2B4,GTF3C2-AS2 | c.1360T>A (p.Ser454Thr) c.*626T>A (n.*626T>A) c.1357T>A (p.Ser453Thr) c.1420T>A (p.Ser474Thr) n.353T>A c.1423T>A (p.Ser475Thr) c.1351T>A (p.Ser451Thr) c.1315T>A (p.Ser439Thr) c.1312T>A (p.Ser438Thr) c.742T>A (p.Ser248Thr) n.1772-2694A>T c.1267T>A (p.Ser423Thr) c.775T>A (p.Ser259Thr) | |
2 | g.27364731G>A | CA425409851 | EIF2B4,GTF3C2-AS2 | c.1359C>T (p.Val453=) c.*625C>T (n.*625C>T) c.1356C>T (p.Val452=) c.1419C>T (p.Val473=) n.352C>T c.1422C>T (p.Val474=) c.1350C>T (p.Val450=) c.1314C>T (p.Val438=) c.1311C>T (p.Val437=) c.741C>T (p.Val247=) n.1772-2693G>A c.1266C>T (p.Val422=) c.774C>T (p.Val258=) | |
2 | g.27364731G>C | CA425409852 | EIF2B4,GTF3C2-AS2 | c.1359C>G (p.Val453=) c.*625C>G (n.*625C>G) c.1356C>G (p.Val452=) c.1419C>G (p.Val473=) n.352C>G c.1422C>G (p.Val474=) c.1350C>G (p.Val450=) c.1314C>G (p.Val438=) c.1311C>G (p.Val437=) c.741C>G (p.Val247=) n.1772-2693G>C c.1266C>G (p.Val422=) c.774C>G (p.Val258=) | |
2 | g.27364731G>T | CA425409850 | EIF2B4,GTF3C2-AS2 | c.1359C>A (p.Val453=) c.*625C>A (n.*625C>A) c.1356C>A (p.Val452=) c.1419C>A (p.Val473=) n.352C>A c.1422C>A (p.Val474=) c.1350C>A (p.Val450=) c.1314C>A (p.Val438=) c.1311C>A (p.Val437=) c.741C>A (p.Val247=) n.1772-2693G>T c.1266C>A (p.Val422=) c.774C>A (p.Val258=) | |
2 | g.27364732A>C | CA346196858 | EIF2B4,GTF3C2-AS2 | c.1358T>G (p.Val453Gly) c.*624T>G (n.*624T>G) c.1355T>G (p.Val452Gly) c.1418T>G (p.Val473Gly) n.351T>G c.1421T>G (p.Val474Gly) c.1349T>G (p.Val450Gly) c.1313T>G (p.Val438Gly) c.1310T>G (p.Val437Gly) c.740T>G (p.Val247Gly) n.1772-2692A>C c.1265T>G (p.Val422Gly) c.773T>G (p.Val258Gly) | |
2 | g.27364732A>G | CA346196859 | EIF2B4,GTF3C2-AS2 | c.1358T>C (p.Val453Ala) c.*624T>C (n.*624T>C) c.1355T>C (p.Val452Ala) c.1418T>C (p.Val473Ala) n.351T>C c.1421T>C (p.Val474Ala) c.1349T>C (p.Val450Ala) c.1313T>C (p.Val438Ala) c.1310T>C (p.Val437Ala) c.740T>C (p.Val247Ala) n.1772-2692A>G c.1265T>C (p.Val422Ala) c.773T>C (p.Val258Ala) | |
2 | g.27364732A>T | CA346196860 | EIF2B4,GTF3C2-AS2 | c.1358T>A (p.Val453Asp) c.*624T>A (n.*624T>A) c.1355T>A (p.Val452Asp) c.1418T>A (p.Val473Asp) n.351T>A c.1421T>A (p.Val474Asp) c.1349T>A (p.Val450Asp) c.1313T>A (p.Val438Asp) c.1310T>A (p.Val437Asp) c.740T>A (p.Val247Asp) n.1772-2692A>T c.1265T>A (p.Val422Asp) c.773T>A (p.Val258Asp) | |
2 | g.27364733C>A | CA346196861 | EIF2B4,GTF3C2-AS2 | c.1357G>T (p.Val453Phe) c.*623G>T (n.*623G>T) c.1354G>T (p.Val452Phe) c.1417G>T (p.Val473Phe) n.350G>T c.1420G>T (p.Val474Phe) c.1348G>T (p.Val450Phe) c.1312G>T (p.Val438Phe) c.1309G>T (p.Val437Phe) c.739G>T (p.Val247Phe) n.1772-2691C>A c.1264G>T (p.Val422Phe) c.772G>T (p.Val258Phe) | |
2 | g.27364733C>G | CA346196862 | EIF2B4,GTF3C2-AS2 | c.1357G>C (p.Val453Leu) c.*623G>C (n.*623G>C) c.1354G>C (p.Val452Leu) c.1417G>C (p.Val473Leu) n.350G>C c.1420G>C (p.Val474Leu) c.1348G>C (p.Val450Leu) c.1312G>C (p.Val438Leu) c.1309G>C (p.Val437Leu) c.739G>C (p.Val247Leu) n.1772-2691C>G c.1264G>C (p.Val422Leu) c.772G>C (p.Val258Leu) | |
2 | g.27364733C>T | CA346196863 | EIF2B4,GTF3C2-AS2 | c.1357G>A (p.Val453Ile) c.*623G>A (n.*623G>A) c.1354G>A (p.Val452Ile) c.1417G>A (p.Val473Ile) n.350G>A c.1420G>A (p.Val474Ile) c.1348G>A (p.Val450Ile) c.1312G>A (p.Val438Ile) c.1309G>A (p.Val437Ile) c.739G>A (p.Val247Ile) n.1772-2691C>T c.1264G>A (p.Val422Ile) c.772G>A (p.Val258Ile) | |
2 | g.27364734A>C | CA346196864 | EIF2B4,GTF3C2-AS2 | c.1356T>G (p.Phe452Leu) c.*622T>G (n.*622T>G) c.1353T>G (p.Phe451Leu) c.1416T>G (p.Phe472Leu) n.349T>G c.1419T>G (p.Phe473Leu) c.1347T>G (p.Phe449Leu) c.1311T>G (p.Phe437Leu) c.1308T>G (p.Phe436Leu) c.738T>G (p.Phe246Leu) n.1772-2690A>C c.1263T>G (p.Phe421Leu) c.771T>G (p.Phe257Leu) | |
2 | g.27364734A>G | CA425409855 | EIF2B4,GTF3C2-AS2 | c.1356T>C (p.Phe452=) c.*622T>C (n.*622T>C) c.1353T>C (p.Phe451=) c.1416T>C (p.Phe472=) n.349T>C c.1419T>C (p.Phe473=) c.1347T>C (p.Phe449=) c.1311T>C (p.Phe437=) c.1308T>C (p.Phe436=) c.738T>C (p.Phe246=) n.1772-2690A>G c.1263T>C (p.Phe421=) c.771T>C (p.Phe257=) | |
2 | g.27364734A>T | CA346196865 | EIF2B4,GTF3C2-AS2 | c.1356T>A (p.Phe452Leu) c.*622T>A (n.*622T>A) c.1353T>A (p.Phe451Leu) c.1416T>A (p.Phe472Leu) n.349T>A c.1419T>A (p.Phe473Leu) c.1347T>A (p.Phe449Leu) c.1311T>A (p.Phe437Leu) c.1308T>A (p.Phe436Leu) c.738T>A (p.Phe246Leu) n.1772-2690A>T c.1263T>A (p.Phe421Leu) c.771T>A (p.Phe257Leu) | |
2 | g.27364735A>C | CA346196866 | EIF2B4,GTF3C2-AS2 | c.1355T>G (p.Phe452Cys) c.*621T>G (n.*621T>G) c.1352T>G (p.Phe451Cys) c.1415T>G (p.Phe472Cys) n.348T>G c.1418T>G (p.Phe473Cys) c.1346T>G (p.Phe449Cys) c.1310T>G (p.Phe437Cys) c.1307T>G (p.Phe436Cys) c.737T>G (p.Phe246Cys) n.1772-2689A>C c.1262T>G (p.Phe421Cys) c.770T>G (p.Phe257Cys) | |
2 | g.27364735A>G | CA346196867 | EIF2B4,GTF3C2-AS2 | c.1355T>C (p.Phe452Ser) c.*621T>C (n.*621T>C) c.1352T>C (p.Phe451Ser) c.1415T>C (p.Phe472Ser) n.348T>C c.1418T>C (p.Phe473Ser) c.1346T>C (p.Phe449Ser) c.1310T>C (p.Phe437Ser) c.1307T>C (p.Phe436Ser) c.737T>C (p.Phe246Ser) n.1772-2689A>G c.1262T>C (p.Phe421Ser) c.770T>C (p.Phe257Ser) | |
2 | g.27364735A>T | CA346196868 | EIF2B4,GTF3C2-AS2 | c.1355T>A (p.Phe452Tyr) c.*621T>A (n.*621T>A) c.1352T>A (p.Phe451Tyr) c.1415T>A (p.Phe472Tyr) n.348T>A c.1418T>A (p.Phe473Tyr) c.1346T>A (p.Phe449Tyr) c.1310T>A (p.Phe437Tyr) c.1307T>A (p.Phe436Tyr) c.737T>A (p.Phe246Tyr) n.1772-2689A>T c.1262T>A (p.Phe421Tyr) c.770T>A (p.Phe257Tyr) | |
2 | g.27364736A>C | CA346196871 | EIF2B4,GTF3C2-AS2 | c.1354T>G (p.Phe452Val) c.*620T>G (n.*620T>G) c.1351T>G (p.Phe451Val) c.1414T>G (p.Phe472Val) n.347T>G c.1417T>G (p.Phe473Val) c.1345T>G (p.Phe449Val) c.1309T>G (p.Phe437Val) c.1306T>G (p.Phe436Val) c.736T>G (p.Phe246Val) n.1772-2688A>C c.1261T>G (p.Phe421Val) c.769T>G (p.Phe257Val) | |
2 | g.27364736A>G | CA346196869 | EIF2B4,GTF3C2-AS2 | c.1354T>C (p.Phe452Leu) c.*620T>C (n.*620T>C) c.1351T>C (p.Phe451Leu) c.1414T>C (p.Phe472Leu) n.347T>C c.1417T>C (p.Phe473Leu) c.1345T>C (p.Phe449Leu) c.1309T>C (p.Phe437Leu) c.1306T>C (p.Phe436Leu) c.736T>C (p.Phe246Leu) n.1772-2688A>G c.1261T>C (p.Phe421Leu) c.769T>C (p.Phe257Leu) | |
2 | g.27364736A>T | CA346196870 | EIF2B4,GTF3C2-AS2 | c.1354T>A (p.Phe452Ile) c.*620T>A (n.*620T>A) c.1351T>A (p.Phe451Ile) c.1414T>A (p.Phe472Ile) n.347T>A c.1417T>A (p.Phe473Ile) c.1345T>A (p.Phe449Ile) c.1309T>A (p.Phe437Ile) c.1306T>A (p.Phe436Ile) c.736T>A (p.Phe246Ile) n.1772-2688A>T c.1261T>A (p.Phe421Ile) c.769T>A (p.Phe257Ile) | |
2 | g.27364737G>A | CA425409859 | EIF2B4,GTF3C2-AS2 | c.1353C>T (p.Ala451=) c.*619C>T (n.*619C>T) c.1350C>T (p.Ala450=) c.1413C>T (p.Ala471=) n.346C>T c.1416C>T (p.Ala472=) c.1344C>T (p.Ala448=) c.1308C>T (p.Ala436=) c.1305C>T (p.Ala435=) c.735C>T (p.Ala245=) n.1772-2687G>A c.1260C>T (p.Ala420=) c.768C>T (p.Ala256=) | |
2 | g.27364737G>C | CA425409860 | EIF2B4,GTF3C2-AS2 | c.1353C>G (p.Ala451=) c.*619C>G (n.*619C>G) c.1350C>G (p.Ala450=) c.1413C>G (p.Ala471=) n.346C>G c.1416C>G (p.Ala472=) c.1344C>G (p.Ala448=) c.1308C>G (p.Ala436=) c.1305C>G (p.Ala435=) c.735C>G (p.Ala245=) n.1772-2687G>C c.1260C>G (p.Ala420=) c.768C>G (p.Ala256=) | |
2 | g.27364737G>T | CA425409858 | EIF2B4,GTF3C2-AS2 | c.1353C>A (p.Ala451=) c.*619C>A (n.*619C>A) c.1350C>A (p.Ala450=) c.1413C>A (p.Ala471=) n.346C>A c.1416C>A (p.Ala472=) c.1344C>A (p.Ala448=) c.1308C>A (p.Ala436=) c.1305C>A (p.Ala435=) c.735C>A (p.Ala245=) n.1772-2687G>T c.1260C>A (p.Ala420=) c.768C>A (p.Ala256=) | |
2 | g.27364738G>A | CA346196872 | EIF2B4,GTF3C2-AS2 | c.1352C>T (p.Ala451Val) c.*618C>T (n.*618C>T) c.1349C>T (p.Ala450Val) c.1412C>T (p.Ala471Val) n.345C>T c.1415C>T (p.Ala472Val) c.1343C>T (p.Ala448Val) c.1307C>T (p.Ala436Val) c.1304C>T (p.Ala435Val) c.734C>T (p.Ala245Val) n.1772-2686G>A c.1259C>T (p.Ala420Val) c.767C>T (p.Ala256Val) | |
2 | g.27364738G>C | CA346196873 | EIF2B4,GTF3C2-AS2 | c.1352C>G (p.Ala451Gly) c.*618C>G (n.*618C>G) c.1349C>G (p.Ala450Gly) c.1412C>G (p.Ala471Gly) n.345C>G c.1415C>G (p.Ala472Gly) c.1343C>G (p.Ala448Gly) c.1307C>G (p.Ala436Gly) c.1304C>G (p.Ala435Gly) c.734C>G (p.Ala245Gly) n.1772-2686G>C c.1259C>G (p.Ala420Gly) c.767C>G (p.Ala256Gly) | |
2 | g.27364738G>T | CA346196874 | EIF2B4,GTF3C2-AS2 | c.1352C>A (p.Ala451Asp) c.*618C>A (n.*618C>A) c.1349C>A (p.Ala450Asp) c.1412C>A (p.Ala471Asp) n.345C>A c.1415C>A (p.Ala472Asp) c.1343C>A (p.Ala448Asp) c.1307C>A (p.Ala436Asp) c.1304C>A (p.Ala435Asp) c.734C>A (p.Ala245Asp) n.1772-2686G>T c.1259C>A (p.Ala420Asp) c.767C>A (p.Ala256Asp) | |
2 | g.27364739C>A | CA346196876 | EIF2B4,GTF3C2-AS2 | c.1351G>T (p.Ala451Ser) c.*617G>T (n.*617G>T) c.1348G>T (p.Ala450Ser) c.1411G>T (p.Ala471Ser) n.344G>T c.1414G>T (p.Ala472Ser) c.1342G>T (p.Ala448Ser) c.1306G>T (p.Ala436Ser) c.1303G>T (p.Ala435Ser) c.733G>T (p.Ala245Ser) n.1772-2685C>A c.1258G>T (p.Ala420Ser) c.766G>T (p.Ala256Ser) | |
2 | g.27364739C>G | CA346196877 | EIF2B4,GTF3C2-AS2 | c.1351G>C (p.Ala451Pro) c.*617G>C (n.*617G>C) c.1348G>C (p.Ala450Pro) c.1411G>C (p.Ala471Pro) n.344G>C c.1414G>C (p.Ala472Pro) c.1342G>C (p.Ala448Pro) c.1306G>C (p.Ala436Pro) c.1303G>C (p.Ala435Pro) c.733G>C (p.Ala245Pro) n.1772-2685C>G c.1258G>C (p.Ala420Pro) c.766G>C (p.Ala256Pro) | |
2 | g.27364739C>T | CA346196878 | EIF2B4,GTF3C2-AS2 | c.1351G>A (p.Ala451Thr) c.*617G>A (n.*617G>A) c.1348G>A (p.Ala450Thr) c.1411G>A (p.Ala471Thr) n.344G>A c.1414G>A (p.Ala472Thr) c.1342G>A (p.Ala448Thr) c.1306G>A (p.Ala436Thr) c.1303G>A (p.Ala435Thr) c.733G>A (p.Ala245Thr) n.1772-2685C>T c.1258G>A (p.Ala420Thr) c.766G>A (p.Ala256Thr) | COSMIC COSMIC |
2 | g.27364740A= | CA1240242908 | EIF2B4,GTF3C2-AS2 | c.1350T= (p.Asp450=) c.*616T= (n.*616T=) c.1347T= (p.Asp449=) c.1410T= (p.Asp470=) n.343T= c.1413T= (p.Asp471=) c.1341T= (p.Asp447=) c.1305T= (p.Asp435=) c.1302T= (p.Asp434=) c.732T= (p.Asp244=) n.1772-2684A= c.1257T= (p.Asp419=) c.765T= (p.Asp255=) | |
2 | g.27364740A>C | CA346196879 | EIF2B4,GTF3C2-AS2 | c.1350T>G (p.Asp450Glu) c.*616T>G (n.*616T>G) c.1347T>G (p.Asp449Glu) c.1410T>G (p.Asp470Glu) n.343T>G c.1413T>G (p.Asp471Glu) c.1341T>G (p.Asp447Glu) c.1305T>G (p.Asp435Glu) c.1302T>G (p.Asp434Glu) c.732T>G (p.Asp244Glu) n.1772-2684A>C c.1257T>G (p.Asp419Glu) c.765T>G (p.Asp255Glu) | |
2 | g.27364740A>G | CA1576599 | EIF2B4,GTF3C2-AS2 | c.1350T>C (p.Asp450=) c.*616T>C (n.*616T>C) c.1347T>C (p.Asp449=) c.1410T>C (p.Asp470=) n.343T>C c.1413T>C (p.Asp471=) c.1341T>C (p.Asp447=) c.1305T>C (p.Asp435=) c.1302T>C (p.Asp434=) c.732T>C (p.Asp244=) n.1772-2684A>G c.1257T>C (p.Asp419=) c.765T>C (p.Asp255=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27364740A>T | CA346196880 | EIF2B4,GTF3C2-AS2 | c.1350T>A (p.Asp450Glu) c.*616T>A (n.*616T>A) c.1347T>A (p.Asp449Glu) c.1410T>A (p.Asp470Glu) n.343T>A c.1413T>A (p.Asp471Glu) c.1341T>A (p.Asp447Glu) c.1305T>A (p.Asp435Glu) c.1302T>A (p.Asp434Glu) c.732T>A (p.Asp244Glu) n.1772-2684A>T c.1257T>A (p.Asp419Glu) c.765T>A (p.Asp255Glu) | |
2 | g.27364741T>A | CA346196881 | EIF2B4,GTF3C2-AS2 | c.1349A>T (p.Asp450Val) c.*615A>T (n.*615A>T) c.1346A>T (p.Asp449Val) c.1409A>T (p.Asp470Val) n.342A>T c.1412A>T (p.Asp471Val) c.1340A>T (p.Asp447Val) c.1304A>T (p.Asp435Val) c.1301A>T (p.Asp434Val) c.731A>T (p.Asp244Val) n.1772-2683T>A c.1256A>T (p.Asp419Val) c.764A>T (p.Asp255Val) | |
2 | g.27364741T>C | CA346196882 | EIF2B4,GTF3C2-AS2 | c.1349A>G (p.Asp450Gly) c.*615A>G (n.*615A>G) c.1346A>G (p.Asp449Gly) c.1409A>G (p.Asp470Gly) n.342A>G c.1412A>G (p.Asp471Gly) c.1340A>G (p.Asp447Gly) c.1304A>G (p.Asp435Gly) c.1301A>G (p.Asp434Gly) c.731A>G (p.Asp244Gly) n.1772-2683T>C c.1256A>G (p.Asp419Gly) c.764A>G (p.Asp255Gly) | |
2 | g.27364741T>G | CA346196883 | EIF2B4,GTF3C2-AS2 | c.1349A>C (p.Asp450Ala) c.*615A>C (n.*615A>C) c.1346A>C (p.Asp449Ala) c.1409A>C (p.Asp470Ala) n.342A>C c.1412A>C (p.Asp471Ala) c.1340A>C (p.Asp447Ala) c.1304A>C (p.Asp435Ala) c.1301A>C (p.Asp434Ala) c.731A>C (p.Asp244Ala) n.1772-2683T>G c.1256A>C (p.Asp419Ala) c.764A>C (p.Asp255Ala) | |
2 | g.27364742C>A | CA346196887 | EIF2B4,GTF3C2-AS2 | c.1348G>T (p.Asp450Tyr) c.*614G>T (n.*614G>T) c.1345G>T (p.Asp449Tyr) c.1408G>T (p.Asp470Tyr) n.341G>T c.1411G>T (p.Asp471Tyr) c.1339G>T (p.Asp447Tyr) c.1303G>T (p.Asp435Tyr) c.1300G>T (p.Asp434Tyr) c.730G>T (p.Asp244Tyr) n.1772-2682C>A c.1255G>T (p.Asp419Tyr) c.763G>T (p.Asp255Tyr) | |
2 | g.27364742C= | CA1240242909 | EIF2B4,GTF3C2-AS2 | c.1348G= (p.Asp450=) c.*614G= (n.*614G=) c.1345G= (p.Asp449=) c.1408G= (p.Asp470=) n.341G= c.1411G= (p.Asp471=) c.1339G= (p.Asp447=) c.1303G= (p.Asp435=) c.1300G= (p.Asp434=) c.730G= (p.Asp244=) n.1772-2682C= c.1255G= (p.Asp419=) c.763G= (p.Asp255=) | |
2 | g.27364742C>G | CA346196886 | EIF2B4,GTF3C2-AS2 | c.1348G>C (p.Asp450His) c.*614G>C (n.*614G>C) c.1345G>C (p.Asp449His) c.1408G>C (p.Asp470His) n.341G>C c.1411G>C (p.Asp471His) c.1339G>C (p.Asp447His) c.1303G>C (p.Asp435His) c.1300G>C (p.Asp434His) c.730G>C (p.Asp244His) n.1772-2682C>G c.1255G>C (p.Asp419His) c.763G>C (p.Asp255His) | |
2 | g.27364742C>T | CA346196884 | EIF2B4,GTF3C2-AS2 | c.1348G>A (p.Asp450Asn) c.*614G>A (n.*614G>A) c.1345G>A (p.Asp449Asn) c.1408G>A (p.Asp470Asn) n.341G>A c.1411G>A (p.Asp471Asn) c.1339G>A (p.Asp447Asn) c.1303G>A (p.Asp435Asn) c.1300G>A (p.Asp434Asn) c.730G>A (p.Asp244Asn) n.1772-2682C>T c.1255G>A (p.Asp419Asn) c.763G>A (p.Asp255Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27364743A>C | CA425410054 | EIF2B4,GTF3C2-AS2 | c.1347T>G (p.Thr449=) c.*613T>G (n.*613T>G) c.1344T>G (p.Thr448=) c.1407T>G (p.Thr469=) n.340T>G c.1410T>G (p.Thr470=) c.1338T>G (p.Thr446=) c.1302T>G (p.Thr434=) c.1299T>G (p.Thr433=) c.729T>G (p.Thr243=) n.1772-2681A>C c.1254T>G (p.Thr418=) c.762T>G (p.Thr254=) | |
2 | g.27364743A>G | CA425410053 | EIF2B4,GTF3C2-AS2 | c.1347T>C (p.Thr449=) c.*613T>C (n.*613T>C) c.1344T>C (p.Thr448=) c.1407T>C (p.Thr469=) n.340T>C c.1410T>C (p.Thr470=) c.1338T>C (p.Thr446=) c.1302T>C (p.Thr434=) c.1299T>C (p.Thr433=) c.729T>C (p.Thr243=) n.1772-2681A>G c.1254T>C (p.Thr418=) c.762T>C (p.Thr254=) | |
2 | g.27364743A>T | CA425410052 | EIF2B4,GTF3C2-AS2 | c.1347T>A (p.Thr449=) c.*613T>A (n.*613T>A) c.1344T>A (p.Thr448=) c.1407T>A (p.Thr469=) n.340T>A c.1410T>A (p.Thr470=) c.1338T>A (p.Thr446=) c.1302T>A (p.Thr434=) c.1299T>A (p.Thr433=) c.729T>A (p.Thr243=) n.1772-2681A>T c.1254T>A (p.Thr418=) c.762T>A (p.Thr254=) | gnomAD v4 |
2 | g.27364744G>A | CA346196891 | EIF2B4,GTF3C2-AS2 | c.1346C>T (p.Thr449Ile) c.*612C>T (n.*612C>T) c.1343C>T (p.Thr448Ile) c.1406C>T (p.Thr469Ile) n.339C>T c.1409C>T (p.Thr470Ile) c.1337C>T (p.Thr446Ile) c.1301C>T (p.Thr434Ile) c.1298C>T (p.Thr433Ile) c.728C>T (p.Thr243Ile) n.1772-2680G>A c.1253C>T (p.Thr418Ile) c.761C>T (p.Thr254Ile) | ClinVar dbSNP |
2 | g.27364744G>C | CA346196888 | EIF2B4,GTF3C2-AS2 | c.1346C>G (p.Thr449Ser) c.*612C>G (n.*612C>G) c.1343C>G (p.Thr448Ser) c.1406C>G (p.Thr469Ser) n.339C>G c.1409C>G (p.Thr470Ser) c.1337C>G (p.Thr446Ser) c.1301C>G (p.Thr434Ser) c.1298C>G (p.Thr433Ser) c.728C>G (p.Thr243Ser) n.1772-2680G>C c.1253C>G (p.Thr418Ser) c.761C>G (p.Thr254Ser) | |
2 | g.27364744G>T | CA346196889 | EIF2B4,GTF3C2-AS2 | c.1346C>A (p.Thr449Asn) c.*612C>A (n.*612C>A) c.1343C>A (p.Thr448Asn) c.1406C>A (p.Thr469Asn) n.339C>A c.1409C>A (p.Thr470Asn) c.1337C>A (p.Thr446Asn) c.1301C>A (p.Thr434Asn) c.1298C>A (p.Thr433Asn) c.728C>A (p.Thr243Asn) n.1772-2680G>T c.1253C>A (p.Thr418Asn) c.761C>A (p.Thr254Asn) | |
2 | g.27364745T>A | CA346196892 | EIF2B4,GTF3C2-AS2 | c.1345A>T (p.Thr449Ser) c.*611A>T (n.*611A>T) c.1342A>T (p.Thr448Ser) c.1405A>T (p.Thr469Ser) n.338A>T c.1408A>T (p.Thr470Ser) c.1336A>T (p.Thr446Ser) c.1300A>T (p.Thr434Ser) c.1297A>T (p.Thr433Ser) c.727A>T (p.Thr243Ser) n.1772-2679T>A c.1252A>T (p.Thr418Ser) c.760A>T (p.Thr254Ser) | |
2 | g.27364745T>C | CA346196894 | EIF2B4,GTF3C2-AS2 | c.1345A>G (p.Thr449Ala) c.*611A>G (n.*611A>G) c.1342A>G (p.Thr448Ala) c.1405A>G (p.Thr469Ala) n.338A>G c.1408A>G (p.Thr470Ala) c.1336A>G (p.Thr446Ala) c.1300A>G (p.Thr434Ala) c.1297A>G (p.Thr433Ala) c.727A>G (p.Thr243Ala) n.1772-2679T>C c.1252A>G (p.Thr418Ala) c.760A>G (p.Thr254Ala) | |
2 | g.27364745T>G | CA346196896 | EIF2B4,GTF3C2-AS2 | c.1345A>C (p.Thr449Pro) c.*611A>C (n.*611A>C) c.1342A>C (p.Thr448Pro) c.1405A>C (p.Thr469Pro) n.338A>C c.1408A>C (p.Thr470Pro) c.1336A>C (p.Thr446Pro) c.1300A>C (p.Thr434Pro) c.1297A>C (p.Thr433Pro) c.727A>C (p.Thr243Pro) n.1772-2679T>G c.1252A>C (p.Thr418Pro) c.760A>C (p.Thr254Pro) | |
2 | g.27364746C>A | CA346196898 | EIF2B4,GTF3C2-AS2 | c.1344G>T (p.Gln448His) c.*610G>T (n.*610G>T) c.1341G>T (p.Gln447His) c.1404G>T (p.Gln468His) n.337G>T c.1407G>T (p.Gln469His) c.1335G>T (p.Gln445His) c.1299G>T (p.Gln433His) c.1296G>T (p.Gln432His) c.726G>T (p.Gln242His) n.1772-2678C>A c.1251G>T (p.Gln417His) c.759G>T (p.Gln253His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364746C= | CA1240242910 | EIF2B4,GTF3C2-AS2 | c.1344G= (p.Gln448=) c.*610G= (n.*610G=) c.1341G= (p.Gln447=) c.1404G= (p.Gln468=) n.337G= c.1407G= (p.Gln469=) c.1335G= (p.Gln445=) c.1299G= (p.Gln433=) c.1296G= (p.Gln432=) c.726G= (p.Gln242=) n.1772-2678C= c.1251G= (p.Gln417=) c.759G= (p.Gln253=) | |
2 | g.27364746C>G | CA346196899 | EIF2B4,GTF3C2-AS2 | c.1344G>C (p.Gln448His) c.*610G>C (n.*610G>C) c.1341G>C (p.Gln447His) c.1404G>C (p.Gln468His) n.337G>C c.1407G>C (p.Gln469His) c.1335G>C (p.Gln445His) c.1299G>C (p.Gln433His) c.1296G>C (p.Gln432His) c.726G>C (p.Gln242His) n.1772-2678C>G c.1251G>C (p.Gln417His) c.759G>C (p.Gln253His) | |
2 | g.27364746C>T | CA425410061 | EIF2B4,GTF3C2-AS2 | c.1344G>A (p.Gln448=) c.*610G>A (n.*610G>A) c.1341G>A (p.Gln447=) c.1404G>A (p.Gln468=) n.337G>A c.1407G>A (p.Gln469=) c.1335G>A (p.Gln445=) c.1299G>A (p.Gln433=) c.1296G>A (p.Gln432=) c.726G>A (p.Gln242=) n.1772-2678C>T c.1251G>A (p.Gln417=) c.759G>A (p.Gln253=) | |
2 | g.27364746_27364759del | CA2658336175 | EIF2B4,GTF3C2-AS2 | c.1331_1344del (p.Cys444TyrfsTer2) c.*597_*610del (n.*597_*610del) c.1328_1341del (p.Cys443TyrfsTer2) c.1391_1404del (p.Cys464TyrfsTer2) n.324_337del c.1394_1407del (p.Cys465TyrfsTer2) c.1322_1335del (p.Cys441TyrfsTer2) c.1286_1299del (p.Cys429TyrfsTer2) c.1283_1296del (p.Cys428TyrfsTer2) c.713_726del (p.Cys238TyrfsTer2) n.1772-2678_1772-2665del c.1238_1251del (p.Cys413TyrfsTer2) c.746_759del (p.Cys249TyrfsTer2) | ClinVar gnomAD v4 |
2 | g.27364747T>A | CA346196900 | EIF2B4,GTF3C2-AS2 | c.1343A>T (p.Gln448Leu) c.*609A>T (n.*609A>T) c.1340A>T (p.Gln447Leu) c.1403A>T (p.Gln468Leu) n.336A>T c.1406A>T (p.Gln469Leu) c.1334A>T (p.Gln445Leu) c.1298A>T (p.Gln433Leu) c.1295A>T (p.Gln432Leu) c.725A>T (p.Gln242Leu) n.1772-2677T>A c.1250A>T (p.Gln417Leu) c.758A>T (p.Gln253Leu) | |
2 | g.27364747T>C | CA346196902 | EIF2B4,GTF3C2-AS2 | c.1343A>G (p.Gln448Arg) c.*609A>G (n.*609A>G) c.1340A>G (p.Gln447Arg) c.1403A>G (p.Gln468Arg) n.336A>G c.1406A>G (p.Gln469Arg) c.1334A>G (p.Gln445Arg) c.1298A>G (p.Gln433Arg) c.1295A>G (p.Gln432Arg) c.725A>G (p.Gln242Arg) n.1772-2677T>C c.1250A>G (p.Gln417Arg) c.758A>G (p.Gln253Arg) | |
2 | g.27364747T>G | CA346196904 | EIF2B4,GTF3C2-AS2 | c.1343A>C (p.Gln448Pro) c.*609A>C (n.*609A>C) c.1340A>C (p.Gln447Pro) c.1403A>C (p.Gln468Pro) n.336A>C c.1406A>C (p.Gln469Pro) c.1334A>C (p.Gln445Pro) c.1298A>C (p.Gln433Pro) c.1295A>C (p.Gln432Pro) c.725A>C (p.Gln242Pro) n.1772-2677T>G c.1250A>C (p.Gln417Pro) c.758A>C (p.Gln253Pro) | |
2 | g.27364748G>A | CA346196906 | EIF2B4,GTF3C2-AS2 | c.1342C>T (p.Gln448Ter) c.*608C>T (n.*608C>T) c.1339C>T (p.Gln447Ter) c.1402C>T (p.Gln468Ter) n.335C>T c.1405C>T (p.Gln469Ter) c.1333C>T (p.Gln445Ter) c.1297C>T (p.Gln433Ter) c.1294C>T (p.Gln432Ter) c.724C>T (p.Gln242Ter) n.1772-2676G>A c.1249C>T (p.Gln417Ter) c.757C>T (p.Gln253Ter) | |
2 | g.27364748G>C | CA346196907 | EIF2B4,GTF3C2-AS2 | c.1342C>G (p.Gln448Glu) c.*608C>G (n.*608C>G) c.1339C>G (p.Gln447Glu) c.1402C>G (p.Gln468Glu) n.335C>G c.1405C>G (p.Gln469Glu) c.1333C>G (p.Gln445Glu) c.1297C>G (p.Gln433Glu) c.1294C>G (p.Gln432Glu) c.724C>G (p.Gln242Glu) n.1772-2676G>C c.1249C>G (p.Gln417Glu) c.757C>G (p.Gln253Glu) | |
2 | g.27364748G>T | CA346196909 | EIF2B4,GTF3C2-AS2 | c.1342C>A (p.Gln448Lys) c.*608C>A (n.*608C>A) c.1339C>A (p.Gln447Lys) c.1402C>A (p.Gln468Lys) n.335C>A c.1405C>A (p.Gln469Lys) c.1333C>A (p.Gln445Lys) c.1297C>A (p.Gln433Lys) c.1294C>A (p.Gln432Lys) c.724C>A (p.Gln242Lys) n.1772-2676G>T c.1249C>A (p.Gln417Lys) c.757C>A (p.Gln253Lys) | |
2 | g.27364749C>A | CA425410064 | EIF2B4,GTF3C2-AS2 | c.1341G>T (p.Val447=) c.*607G>T (n.*607G>T) c.1338G>T (p.Val446=) c.1401G>T (p.Val467=) n.334G>T c.1404G>T (p.Val468=) c.1332G>T (p.Val444=) c.1296G>T (p.Val432=) c.1293G>T (p.Val431=) c.723G>T (p.Val241=) n.1772-2675C>A c.1248G>T (p.Val416=) c.756G>T (p.Val252=) | |
2 | g.27364749C>G | CA425410065 | EIF2B4,GTF3C2-AS2 | c.1341G>C (p.Val447=) c.*607G>C (n.*607G>C) c.1338G>C (p.Val446=) c.1401G>C (p.Val467=) n.334G>C c.1404G>C (p.Val468=) c.1332G>C (p.Val444=) c.1296G>C (p.Val432=) c.1293G>C (p.Val431=) c.723G>C (p.Val241=) n.1772-2675C>G c.1248G>C (p.Val416=) c.756G>C (p.Val252=) | |
2 | g.27364749C>T | CA425410066 | EIF2B4,GTF3C2-AS2 | c.1341G>A (p.Val447=) c.*607G>A (n.*607G>A) c.1338G>A (p.Val446=) c.1401G>A (p.Val467=) n.334G>A c.1404G>A (p.Val468=) c.1332G>A (p.Val444=) c.1296G>A (p.Val432=) c.1293G>A (p.Val431=) c.723G>A (p.Val241=) n.1772-2675C>T c.1248G>A (p.Val416=) c.756G>A (p.Val252=) | gnomAD v4 |
2 | g.27364750A>C | CA346196914 | EIF2B4,GTF3C2-AS2 | c.1340T>G (p.Val447Gly) c.*606T>G (n.*606T>G) c.1337T>G (p.Val446Gly) c.1400T>G (p.Val467Gly) n.333T>G c.1403T>G (p.Val468Gly) c.1331T>G (p.Val444Gly) c.1295T>G (p.Val432Gly) c.1292T>G (p.Val431Gly) c.722T>G (p.Val241Gly) n.1772-2674A>C c.1247T>G (p.Val416Gly) c.755T>G (p.Val252Gly) | |
2 | g.27364750A>G | CA346196911 | EIF2B4,GTF3C2-AS2 | c.1340T>C (p.Val447Ala) c.*606T>C (n.*606T>C) c.1337T>C (p.Val446Ala) c.1400T>C (p.Val467Ala) n.333T>C c.1403T>C (p.Val468Ala) c.1331T>C (p.Val444Ala) c.1295T>C (p.Val432Ala) c.1292T>C (p.Val431Ala) c.722T>C (p.Val241Ala) n.1772-2674A>G c.1247T>C (p.Val416Ala) c.755T>C (p.Val252Ala) | gnomAD v4 |
2 | g.27364750A>T | CA346196913 | EIF2B4,GTF3C2-AS2 | c.1340T>A (p.Val447Glu) c.*606T>A (n.*606T>A) c.1337T>A (p.Val446Glu) c.1400T>A (p.Val467Glu) n.333T>A c.1403T>A (p.Val468Glu) c.1331T>A (p.Val444Glu) c.1295T>A (p.Val432Glu) c.1292T>A (p.Val431Glu) c.722T>A (p.Val241Glu) n.1772-2674A>T c.1247T>A (p.Val416Glu) c.755T>A (p.Val252Glu) | |
2 | g.27364751C>A | CA346196916 | EIF2B4,GTF3C2-AS2 | c.1339G>T (p.Val447Leu) c.*605G>T (n.*605G>T) c.1336G>T (p.Val446Leu) c.1399G>T (p.Val467Leu) n.332G>T c.1402G>T (p.Val468Leu) c.1330G>T (p.Val444Leu) c.1294G>T (p.Val432Leu) c.1291G>T (p.Val431Leu) c.721G>T (p.Val241Leu) n.1772-2673C>A c.1246G>T (p.Val416Leu) c.754G>T (p.Val252Leu) | |
2 | g.27364751C= | CA1240242911 | EIF2B4,GTF3C2-AS2 | c.1339G= (p.Val447=) c.*605G= (n.*605G=) c.1336G= (p.Val446=) c.1399G= (p.Val467=) n.332G= c.1402G= (p.Val468=) c.1330G= (p.Val444=) c.1294G= (p.Val432=) c.1291G= (p.Val431=) c.721G= (p.Val241=) n.1772-2673C= c.1246G= (p.Val416=) c.754G= (p.Val252=) | |
2 | g.27364751C>G | CA346196917 | EIF2B4,GTF3C2-AS2 | c.1339G>C (p.Val447Leu) c.*605G>C (n.*605G>C) c.1336G>C (p.Val446Leu) c.1399G>C (p.Val467Leu) n.332G>C c.1402G>C (p.Val468Leu) c.1330G>C (p.Val444Leu) c.1294G>C (p.Val432Leu) c.1291G>C (p.Val431Leu) c.721G>C (p.Val241Leu) n.1772-2673C>G c.1246G>C (p.Val416Leu) c.754G>C (p.Val252Leu) | |
2 | g.27364751C>T | CA1576600 | EIF2B4,GTF3C2-AS2 | c.1339G>A (p.Val447Met) c.*605G>A (n.*605G>A) c.1336G>A (p.Val446Met) c.1399G>A (p.Val467Met) n.332G>A c.1402G>A (p.Val468Met) c.1330G>A (p.Val444Met) c.1294G>A (p.Val432Met) c.1291G>A (p.Val431Met) c.721G>A (p.Val241Met) n.1772-2673C>T c.1246G>A (p.Val416Met) c.754G>A (p.Val252Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27364752A= | CA1240242912 | EIF2B4,GTF3C2-AS2 | c.1338T= (p.Arg446=) c.*604T= (n.*604T=) c.1335T= (p.Arg445=) c.1398T= (p.Arg466=) n.331T= c.1401T= (p.Arg467=) c.1329T= (p.Arg443=) c.1293T= (p.Arg431=) c.1290T= (p.Arg430=) c.720T= (p.Arg240=) n.1772-2672A= c.1245T= (p.Arg415=) c.753T= (p.Arg251=) | |
2 | g.27364752A>C | CA425410069 | EIF2B4,GTF3C2-AS2 | c.1338T>G (p.Arg446=) c.*604T>G (n.*604T>G) c.1335T>G (p.Arg445=) c.1398T>G (p.Arg466=) n.331T>G c.1401T>G (p.Arg467=) c.1329T>G (p.Arg443=) c.1293T>G (p.Arg431=) c.1290T>G (p.Arg430=) c.720T>G (p.Arg240=) n.1772-2672A>C c.1245T>G (p.Arg415=) c.753T>G (p.Arg251=) | |
2 | g.27364752A>G | CA1576601 | EIF2B4,GTF3C2-AS2 | c.1338T>C (p.Arg446=) c.*604T>C (n.*604T>C) c.1335T>C (p.Arg445=) c.1398T>C (p.Arg466=) n.331T>C c.1401T>C (p.Arg467=) c.1329T>C (p.Arg443=) c.1293T>C (p.Arg431=) c.1290T>C (p.Arg430=) c.720T>C (p.Arg240=) n.1772-2672A>G c.1245T>C (p.Arg415=) c.753T>C (p.Arg251=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27364752A>T | CA425410070 | EIF2B4,GTF3C2-AS2 | c.1338T>A (p.Arg446=) c.*604T>A (n.*604T>A) c.1335T>A (p.Arg445=) c.1398T>A (p.Arg466=) n.331T>A c.1401T>A (p.Arg467=) c.1329T>A (p.Arg443=) c.1293T>A (p.Arg431=) c.1290T>A (p.Arg430=) c.720T>A (p.Arg240=) n.1772-2672A>T c.1245T>A (p.Arg415=) c.753T>A (p.Arg251=) | |
2 | g.27364753C>A | CA44509584 | EIF2B4,GTF3C2-AS2 | c.1337G>T (p.Arg446Leu) c.*603G>T (n.*603G>T) c.1334G>T (p.Arg445Leu) c.1397G>T (p.Arg466Leu) n.330G>T c.1400G>T (p.Arg467Leu) c.1328G>T (p.Arg443Leu) c.1292G>T (p.Arg431Leu) c.1289G>T (p.Arg430Leu) c.719G>T (p.Arg240Leu) n.1772-2671C>A c.1244G>T (p.Arg415Leu) c.752G>T (p.Arg251Leu) | dbSNP gnomAD v4 |
2 | g.27364753C= | CA1240242913 | EIF2B4,GTF3C2-AS2 | c.1337G= (p.Arg446=) c.*603G= (n.*603G=) c.1334G= (p.Arg445=) c.1397G= (p.Arg466=) n.330G= c.1400G= (p.Arg467=) c.1328G= (p.Arg443=) c.1292G= (p.Arg431=) c.1289G= (p.Arg430=) c.719G= (p.Arg240=) n.1772-2671C= c.1244G= (p.Arg415=) c.752G= (p.Arg251=) | |
2 | g.27364753C>G | CA346196920 | EIF2B4,GTF3C2-AS2 | c.1337G>C (p.Arg446Pro) c.*603G>C (n.*603G>C) c.1334G>C (p.Arg445Pro) c.1397G>C (p.Arg466Pro) n.330G>C c.1400G>C (p.Arg467Pro) c.1328G>C (p.Arg443Pro) c.1292G>C (p.Arg431Pro) c.1289G>C (p.Arg430Pro) c.719G>C (p.Arg240Pro) n.1772-2671C>G c.1244G>C (p.Arg415Pro) c.752G>C (p.Arg251Pro) | |
2 | g.27364753C>T | CA346196922 | EIF2B4,GTF3C2-AS2 | c.1337G>A (p.Arg446His) c.*603G>A (n.*603G>A) c.1334G>A (p.Arg445His) c.1397G>A (p.Arg466His) n.330G>A c.1400G>A (p.Arg467His) c.1328G>A (p.Arg443His) c.1292G>A (p.Arg431His) c.1289G>A (p.Arg430His) c.719G>A (p.Arg240His) n.1772-2671C>T c.1244G>A (p.Arg415His) c.752G>A (p.Arg251His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.27364754G>A | CA1576602 | EIF2B4,GTF3C2-AS2 | c.1336C>T (p.Arg446Cys) c.*602C>T (n.*602C>T) c.1333C>T (p.Arg445Cys) c.1396C>T (p.Arg466Cys) n.329C>T c.1399C>T (p.Arg467Cys) c.1327C>T (p.Arg443Cys) c.1291C>T (p.Arg431Cys) c.1288C>T (p.Arg430Cys) c.718C>T (p.Arg240Cys) n.1772-2670G>A c.1243C>T (p.Arg415Cys) c.751C>T (p.Arg251Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27364754G>C | CA346196923 | EIF2B4,GTF3C2-AS2 | c.1336C>G (p.Arg446Gly) c.*602C>G (n.*602C>G) c.1333C>G (p.Arg445Gly) c.1396C>G (p.Arg466Gly) n.329C>G c.1399C>G (p.Arg467Gly) c.1327C>G (p.Arg443Gly) c.1291C>G (p.Arg431Gly) c.1288C>G (p.Arg430Gly) c.718C>G (p.Arg240Gly) n.1772-2670G>C c.1243C>G (p.Arg415Gly) c.751C>G (p.Arg251Gly) | |
2 | g.27364754G= | CA1240242914 | EIF2B4,GTF3C2-AS2 | c.1336C= (p.Arg446=) c.*602C= (n.*602C=) c.1333C= (p.Arg445=) c.1396C= (p.Arg466=) n.329C= c.1399C= (p.Arg467=) c.1327C= (p.Arg443=) c.1291C= (p.Arg431=) c.1288C= (p.Arg430=) c.718C= (p.Arg240=) n.1772-2670G= c.1243C= (p.Arg415=) c.751C= (p.Arg251=) | |
2 | g.27364754G>T | CA346196925 | EIF2B4,GTF3C2-AS2 | c.1336C>A (p.Arg446Ser) c.*602C>A (n.*602C>A) c.1333C>A (p.Arg445Ser) c.1396C>A (p.Arg466Ser) n.329C>A c.1399C>A (p.Arg467Ser) c.1327C>A (p.Arg443Ser) c.1291C>A (p.Arg431Ser) c.1288C>A (p.Arg430Ser) c.718C>A (p.Arg240Ser) n.1772-2670G>T c.1243C>A (p.Arg415Ser) c.751C>A (p.Arg251Ser) | |
2 | g.27364755C>A | CA346196927 | EIF2B4,GTF3C2-AS2 | c.1335G>T (p.Glu445Asp) c.*601G>T (n.*601G>T) c.1332G>T (p.Glu444Asp) c.1395G>T (p.Glu465Asp) n.328G>T c.1398G>T (p.Glu466Asp) c.1326G>T (p.Glu442Asp) c.1290G>T (p.Glu430Asp) c.1287G>T (p.Glu429Asp) c.717G>T (p.Glu239Asp) n.1772-2669C>A c.1242G>T (p.Glu414Asp) c.750G>T (p.Glu250Asp) | |
2 | g.27364755C= | CA1240242915 | EIF2B4,GTF3C2-AS2 | c.1335G= (p.Glu445=) c.*601G= (n.*601G=) c.1332G= (p.Glu444=) c.1395G= (p.Glu465=) n.328G= c.1398G= (p.Glu466=) c.1326G= (p.Glu442=) c.1290G= (p.Glu430=) c.1287G= (p.Glu429=) c.717G= (p.Glu239=) n.1772-2669C= c.1242G= (p.Glu414=) c.750G= (p.Glu250=) | |
2 | g.27364755C>G | CA346196929 | EIF2B4,GTF3C2-AS2 | c.1335G>C (p.Glu445Asp) c.*601G>C (n.*601G>C) c.1332G>C (p.Glu444Asp) c.1395G>C (p.Glu465Asp) n.328G>C c.1398G>C (p.Glu466Asp) c.1326G>C (p.Glu442Asp) c.1290G>C (p.Glu430Asp) c.1287G>C (p.Glu429Asp) c.717G>C (p.Glu239Asp) n.1772-2669C>G c.1242G>C (p.Glu414Asp) c.750G>C (p.Glu250Asp) | gnomAD v4 |
2 | g.27364755C>T | CA1576603 | EIF2B4,GTF3C2-AS2 | c.1335G>A (p.Glu445=) c.*601G>A (n.*601G>A) c.1332G>A (p.Glu444=) c.1395G>A (p.Glu465=) n.328G>A c.1398G>A (p.Glu466=) c.1326G>A (p.Glu442=) c.1290G>A (p.Glu430=) c.1287G>A (p.Glu429=) c.717G>A (p.Glu239=) n.1772-2669C>T c.1242G>A (p.Glu414=) c.750G>A (p.Glu250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27364756T>A | CA346196933 | EIF2B4,GTF3C2-AS2 | c.1334A>T (p.Glu445Val) c.*600A>T (n.*600A>T) c.1331A>T (p.Glu444Val) c.1394A>T (p.Glu465Val) n.327A>T c.1397A>T (p.Glu466Val) c.1325A>T (p.Glu442Val) c.1289A>T (p.Glu430Val) c.1286A>T (p.Glu429Val) c.716A>T (p.Glu239Val) n.1772-2668T>A c.1241A>T (p.Glu414Val) c.749A>T (p.Glu250Val) | |
2 | g.27364756T>C | CA346196934 | EIF2B4,GTF3C2-AS2 | c.1334A>G (p.Glu445Gly) c.*600A>G (n.*600A>G) c.1331A>G (p.Glu444Gly) c.1394A>G (p.Glu465Gly) n.327A>G c.1397A>G (p.Glu466Gly) c.1325A>G (p.Glu442Gly) c.1289A>G (p.Glu430Gly) c.1286A>G (p.Glu429Gly) c.716A>G (p.Glu239Gly) n.1772-2668T>C c.1241A>G (p.Glu414Gly) c.749A>G (p.Glu250Gly) | |
2 | g.27364756T>G | CA346196931 | EIF2B4,GTF3C2-AS2 | c.1334A>C (p.Glu445Ala) c.*600A>C (n.*600A>C) c.1331A>C (p.Glu444Ala) c.1394A>C (p.Glu465Ala) n.327A>C c.1397A>C (p.Glu466Ala) c.1325A>C (p.Glu442Ala) c.1289A>C (p.Glu430Ala) c.1286A>C (p.Glu429Ala) c.716A>C (p.Glu239Ala) n.1772-2668T>G c.1241A>C (p.Glu414Ala) c.749A>C (p.Glu250Ala) | |
2 | g.27364757C>A | CA346196936 | EIF2B4,GTF3C2-AS2 | c.1333G>T (p.Glu445Ter) c.*599G>T (n.*599G>T) c.1330G>T (p.Glu444Ter) c.1393G>T (p.Glu465Ter) n.326G>T c.1396G>T (p.Glu466Ter) c.1324G>T (p.Glu442Ter) c.1288G>T (p.Glu430Ter) c.1285G>T (p.Glu429Ter) c.715G>T (p.Glu239Ter) n.1772-2667C>A c.1240G>T (p.Glu414Ter) c.748G>T (p.Glu250Ter) | |
2 | g.27364757C>G | CA346196939 | EIF2B4,GTF3C2-AS2 | c.1333G>C (p.Glu445Gln) c.*599G>C (n.*599G>C) c.1330G>C (p.Glu444Gln) c.1393G>C (p.Glu465Gln) n.326G>C c.1396G>C (p.Glu466Gln) c.1324G>C (p.Glu442Gln) c.1288G>C (p.Glu430Gln) c.1285G>C (p.Glu429Gln) c.715G>C (p.Glu239Gln) n.1772-2667C>G c.1240G>C (p.Glu414Gln) c.748G>C (p.Glu250Gln) | |
2 | g.27364757C>T | CA346196938 | EIF2B4,GTF3C2-AS2 | c.1333G>A (p.Glu445Lys) c.*599G>A (n.*599G>A) c.1330G>A (p.Glu444Lys) c.1393G>A (p.Glu465Lys) n.326G>A c.1396G>A (p.Glu466Lys) c.1324G>A (p.Glu442Lys) c.1288G>A (p.Glu430Lys) c.1285G>A (p.Glu429Lys) c.715G>A (p.Glu239Lys) n.1772-2667C>T c.1240G>A (p.Glu414Lys) c.748G>A (p.Glu250Lys) | |
2 | g.27364758A>C | CA346196941 | EIF2B4,GTF3C2-AS2 | c.1332T>G (p.Cys444Trp) c.*598T>G (n.*598T>G) c.1329T>G (p.Cys443Trp) c.1392T>G (p.Cys464Trp) n.325T>G c.1395T>G (p.Cys465Trp) c.1323T>G (p.Cys441Trp) c.1287T>G (p.Cys429Trp) c.1284T>G (p.Cys428Trp) c.714T>G (p.Cys238Trp) n.1772-2666A>C c.1239T>G (p.Cys413Trp) c.747T>G (p.Cys249Trp) | |
2 | g.27364758A>G | CA425410085 | EIF2B4,GTF3C2-AS2 | c.1332T>C (p.Cys444=) c.*598T>C (n.*598T>C) c.1329T>C (p.Cys443=) c.1392T>C (p.Cys464=) n.325T>C c.1395T>C (p.Cys465=) c.1323T>C (p.Cys441=) c.1287T>C (p.Cys429=) c.1284T>C (p.Cys428=) c.714T>C (p.Cys238=) n.1772-2666A>G c.1239T>C (p.Cys413=) c.747T>C (p.Cys249=) | |
2 | g.27364758A>T | CA346196942 | EIF2B4,GTF3C2-AS2 | c.1332T>A (p.Cys444Ter) c.*598T>A (n.*598T>A) c.1329T>A (p.Cys443Ter) c.1392T>A (p.Cys464Ter) n.325T>A c.1395T>A (p.Cys465Ter) c.1323T>A (p.Cys441Ter) c.1287T>A (p.Cys429Ter) c.1284T>A (p.Cys428Ter) c.714T>A (p.Cys238Ter) n.1772-2666A>T c.1239T>A (p.Cys413Ter) c.747T>A (p.Cys249Ter) | |
2 | g.27364759C>A | CA346196944 | EIF2B4,GTF3C2-AS2 | c.1331G>T (p.Cys444Phe) c.*597G>T (n.*597G>T) c.1328G>T (p.Cys443Phe) c.1391G>T (p.Cys464Phe) n.324G>T c.1394G>T (p.Cys465Phe) c.1322G>T (p.Cys441Phe) c.1286G>T (p.Cys429Phe) c.1283G>T (p.Cys428Phe) c.713G>T (p.Cys238Phe) n.1772-2665C>A c.1238G>T (p.Cys413Phe) c.746G>T (p.Cys249Phe) | |
2 | g.27364759C>G | CA346196945 | EIF2B4,GTF3C2-AS2 | c.1331G>C (p.Cys444Ser) c.*597G>C (n.*597G>C) c.1328G>C (p.Cys443Ser) c.1391G>C (p.Cys464Ser) n.324G>C c.1394G>C (p.Cys465Ser) c.1322G>C (p.Cys441Ser) c.1286G>C (p.Cys429Ser) c.1283G>C (p.Cys428Ser) c.713G>C (p.Cys238Ser) n.1772-2665C>G c.1238G>C (p.Cys413Ser) c.746G>C (p.Cys249Ser) | |
2 | g.27364759C>T | CA346196947 | EIF2B4,GTF3C2-AS2 | c.1331G>A (p.Cys444Tyr) c.*597G>A (n.*597G>A) c.1328G>A (p.Cys443Tyr) c.1391G>A (p.Cys464Tyr) n.324G>A c.1394G>A (p.Cys465Tyr) c.1322G>A (p.Cys441Tyr) c.1286G>A (p.Cys429Tyr) c.1283G>A (p.Cys428Tyr) c.713G>A (p.Cys238Tyr) n.1772-2665C>T c.1238G>A (p.Cys413Tyr) c.746G>A (p.Cys249Tyr) | |
2 | g.27364760A= | CA1240242916 | EIF2B4,GTF3C2-AS2 | c.1330T= (p.Cys444=) c.*596T= (n.*596T=) c.1327T= (p.Cys443=) c.1390T= (p.Cys464=) n.323T= c.1393T= (p.Cys465=) c.1321T= (p.Cys441=) c.1285T= (p.Cys429=) c.1282T= (p.Cys428=) c.712T= (p.Cys238=) n.1772-2664A= c.1237T= (p.Cys413=) c.745T= (p.Cys249=) | |
2 | g.27364760A>C | CA346196949 | EIF2B4,GTF3C2-AS2 | c.1330T>G (p.Cys444Gly) c.*596T>G (n.*596T>G) c.1327T>G (p.Cys443Gly) c.1390T>G (p.Cys464Gly) n.323T>G c.1393T>G (p.Cys465Gly) c.1321T>G (p.Cys441Gly) c.1285T>G (p.Cys429Gly) c.1282T>G (p.Cys428Gly) c.712T>G (p.Cys238Gly) n.1772-2664A>C c.1237T>G (p.Cys413Gly) c.745T>G (p.Cys249Gly) | |
2 | g.27364760A>G | CA346196950 | EIF2B4,GTF3C2-AS2 | c.1330T>C (p.Cys444Arg) c.*596T>C (n.*596T>C) c.1327T>C (p.Cys443Arg) c.1390T>C (p.Cys464Arg) n.323T>C c.1393T>C (p.Cys465Arg) c.1321T>C (p.Cys441Arg) c.1285T>C (p.Cys429Arg) c.1282T>C (p.Cys428Arg) c.712T>C (p.Cys238Arg) n.1772-2664A>G c.1237T>C (p.Cys413Arg) c.745T>C (p.Cys249Arg) | dbSNP gnomAD v4 |
2 | g.27364760A>T | CA346196951 | EIF2B4,GTF3C2-AS2 | c.1330T>A (p.Cys444Ser) c.*596T>A (n.*596T>A) c.1327T>A (p.Cys443Ser) c.1390T>A (p.Cys464Ser) n.323T>A c.1393T>A (p.Cys465Ser) c.1321T>A (p.Cys441Ser) c.1285T>A (p.Cys429Ser) c.1282T>A (p.Cys428Ser) c.712T>A (p.Cys238Ser) n.1772-2664A>T c.1237T>A (p.Cys413Ser) c.745T>A (p.Cys249Ser) | |
2 | g.27364761G>A | CA425410092 | EIF2B4,GTF3C2-AS2 | c.1329C>T (p.Phe443=) c.*595C>T (n.*595C>T) c.1326C>T (p.Phe442=) c.1389C>T (p.Phe463=) n.322C>T c.1392C>T (p.Phe464=) c.1320C>T (p.Phe440=) c.1284C>T (p.Phe428=) c.1281C>T (p.Phe427=) c.711C>T (p.Phe237=) n.1772-2663G>A c.1236C>T (p.Phe412=) c.744C>T (p.Phe248=) | dbSNP |
2 | g.27364761G>C | CA346196953 | EIF2B4,GTF3C2-AS2 | c.1329C>G (p.Phe443Leu) c.*595C>G (n.*595C>G) c.1326C>G (p.Phe442Leu) c.1389C>G (p.Phe463Leu) n.322C>G c.1392C>G (p.Phe464Leu) c.1320C>G (p.Phe440Leu) c.1284C>G (p.Phe428Leu) c.1281C>G (p.Phe427Leu) c.711C>G (p.Phe237Leu) n.1772-2663G>C c.1236C>G (p.Phe412Leu) c.744C>G (p.Phe248Leu) | gnomAD v4 |
2 | g.27364761G= | CA1240242917 | EIF2B4,GTF3C2-AS2 | c.1329C= (p.Phe443=) c.*595C= (n.*595C=) c.1326C= (p.Phe442=) c.1389C= (p.Phe463=) n.322C= c.1392C= (p.Phe464=) c.1320C= (p.Phe440=) c.1284C= (p.Phe428=) c.1281C= (p.Phe427=) c.711C= (p.Phe237=) n.1772-2663G= c.1236C= (p.Phe412=) c.744C= (p.Phe248=) | |
2 | g.27364761G>T | CA346196955 | EIF2B4,GTF3C2-AS2 | c.1329C>A (p.Phe443Leu) c.*595C>A (n.*595C>A) c.1326C>A (p.Phe442Leu) c.1389C>A (p.Phe463Leu) n.322C>A c.1392C>A (p.Phe464Leu) c.1320C>A (p.Phe440Leu) c.1284C>A (p.Phe428Leu) c.1281C>A (p.Phe427Leu) c.711C>A (p.Phe237Leu) n.1772-2663G>T c.1236C>A (p.Phe412Leu) c.744C>A (p.Phe248Leu) | dbSNP COSMIC COSMIC |
2 | g.27364762A>C | CA346196957 | EIF2B4,GTF3C2-AS2 | c.1328T>G (p.Phe443Cys) c.*594T>G (n.*594T>G) c.1325T>G (p.Phe442Cys) c.1388T>G (p.Phe463Cys) n.321T>G c.1391T>G (p.Phe464Cys) c.1319T>G (p.Phe440Cys) c.1283T>G (p.Phe428Cys) c.1280T>G (p.Phe427Cys) c.710T>G (p.Phe237Cys) n.1772-2662A>C c.1235T>G (p.Phe412Cys) c.743T>G (p.Phe248Cys) | |
2 | g.27364762A>G | CA346196958 | EIF2B4,GTF3C2-AS2 | c.1328T>C (p.Phe443Ser) c.*594T>C (n.*594T>C) c.1325T>C (p.Phe442Ser) c.1388T>C (p.Phe463Ser) n.321T>C c.1391T>C (p.Phe464Ser) c.1319T>C (p.Phe440Ser) c.1283T>C (p.Phe428Ser) c.1280T>C (p.Phe427Ser) c.710T>C (p.Phe237Ser) n.1772-2662A>G c.1235T>C (p.Phe412Ser) c.743T>C (p.Phe248Ser) | |
2 | g.27364762A>T | CA346196959 | EIF2B4,GTF3C2-AS2 | c.1328T>A (p.Phe443Tyr) c.*594T>A (n.*594T>A) c.1325T>A (p.Phe442Tyr) c.1388T>A (p.Phe463Tyr) n.321T>A c.1391T>A (p.Phe464Tyr) c.1319T>A (p.Phe440Tyr) c.1283T>A (p.Phe428Tyr) c.1280T>A (p.Phe427Tyr) c.710T>A (p.Phe237Tyr) n.1772-2662A>T c.1235T>A (p.Phe412Tyr) c.743T>A (p.Phe248Tyr) | |
2 | g.27364763A>C | CA346196961 | EIF2B4,GTF3C2-AS2 | c.1327T>G (p.Phe443Val) c.*593T>G (n.*593T>G) c.1324T>G (p.Phe442Val) c.1387T>G (p.Phe463Val) n.320T>G c.1390T>G (p.Phe464Val) c.1318T>G (p.Phe440Val) c.1282T>G (p.Phe428Val) c.1279T>G (p.Phe427Val) c.709T>G (p.Phe237Val) n.1772-2661A>C c.1234T>G (p.Phe412Val) c.742T>G (p.Phe248Val) | |
2 | g.27364763A>G | CA346196965 | EIF2B4,GTF3C2-AS2 | c.1327T>C (p.Phe443Leu) c.*593T>C (n.*593T>C) c.1324T>C (p.Phe442Leu) c.1387T>C (p.Phe463Leu) n.320T>C c.1390T>C (p.Phe464Leu) c.1318T>C (p.Phe440Leu) c.1282T>C (p.Phe428Leu) c.1279T>C (p.Phe427Leu) c.709T>C (p.Phe237Leu) n.1772-2661A>G c.1234T>C (p.Phe412Leu) c.742T>C (p.Phe248Leu) | |
2 | g.27364763A>T | CA346196963 | EIF2B4,GTF3C2-AS2 | c.1327T>A (p.Phe443Ile) c.*593T>A (n.*593T>A) c.1324T>A (p.Phe442Ile) c.1387T>A (p.Phe463Ile) n.320T>A c.1390T>A (p.Phe464Ile) c.1318T>A (p.Phe440Ile) c.1282T>A (p.Phe428Ile) c.1279T>A (p.Phe427Ile) c.709T>A (p.Phe237Ile) n.1772-2661A>T c.1234T>A (p.Phe412Ile) c.742T>A (p.Phe248Ile) | |
2 | g.27364764C>A | CA346196966 | EIF2B4,GTF3C2-AS2 | c.1326G>T (p.Lys442Asn) c.*592G>T (n.*592G>T) c.1323G>T (p.Lys441Asn) c.1386G>T (p.Lys462Asn) n.319G>T c.1389G>T (p.Lys463Asn) c.1317G>T (p.Lys439Asn) c.1281G>T (p.Lys427Asn) c.1278G>T (p.Lys426Asn) c.708G>T (p.Lys236Asn) n.1772-2660C>A c.1233G>T (p.Lys411Asn) c.741G>T (p.Lys247Asn) | |
2 | g.27364764C>G | CA346196967 | EIF2B4,GTF3C2-AS2 | c.1326G>C (p.Lys442Asn) c.*592G>C (n.*592G>C) c.1323G>C (p.Lys441Asn) c.1386G>C (p.Lys462Asn) n.319G>C c.1389G>C (p.Lys463Asn) c.1317G>C (p.Lys439Asn) c.1281G>C (p.Lys427Asn) c.1278G>C (p.Lys426Asn) c.708G>C (p.Lys236Asn) n.1772-2660C>G c.1233G>C (p.Lys411Asn) c.741G>C (p.Lys247Asn) | |
2 | g.27364764C>T | CA425410102 | EIF2B4,GTF3C2-AS2 | c.1326G>A (p.Lys442=) c.*592G>A (n.*592G>A) c.1323G>A (p.Lys441=) c.1386G>A (p.Lys462=) n.319G>A c.1389G>A (p.Lys463=) c.1317G>A (p.Lys439=) c.1281G>A (p.Lys427=) c.1278G>A (p.Lys426=) c.708G>A (p.Lys236=) n.1772-2660C>T c.1233G>A (p.Lys411=) c.741G>A (p.Lys247=) | |
2 | g.27364765T>A | CA346196969 | EIF2B4,GTF3C2-AS2 | c.1325A>T (p.Lys442Met) c.*591A>T (n.*591A>T) c.1322A>T (p.Lys441Met) c.1385A>T (p.Lys462Met) n.318A>T c.1388A>T (p.Lys463Met) c.1316A>T (p.Lys439Met) c.1280A>T (p.Lys427Met) c.1277A>T (p.Lys426Met) c.707A>T (p.Lys236Met) n.1772-2659T>A c.1232A>T (p.Lys411Met) c.740A>T (p.Lys247Met) | |
2 | g.27364765T>C | CA346196971 | EIF2B4,GTF3C2-AS2 | c.1325A>G (p.Lys442Arg) c.*591A>G (n.*591A>G) c.1322A>G (p.Lys441Arg) c.1385A>G (p.Lys462Arg) n.318A>G c.1388A>G (p.Lys463Arg) c.1316A>G (p.Lys439Arg) c.1280A>G (p.Lys427Arg) c.1277A>G (p.Lys426Arg) c.707A>G (p.Lys236Arg) n.1772-2659T>C c.1232A>G (p.Lys411Arg) c.740A>G (p.Lys247Arg) | |
2 | g.27364765T>G | CA346196972 | EIF2B4,GTF3C2-AS2 | c.1325A>C (p.Lys442Thr) c.*591A>C (n.*591A>C) c.1322A>C (p.Lys441Thr) c.1385A>C (p.Lys462Thr) n.318A>C c.1388A>C (p.Lys463Thr) c.1316A>C (p.Lys439Thr) c.1280A>C (p.Lys427Thr) c.1277A>C (p.Lys426Thr) c.707A>C (p.Lys236Thr) n.1772-2659T>G c.1232A>C (p.Lys411Thr) c.740A>C (p.Lys247Thr) | |
2 | g.27364766T>A | CA346196973 | EIF2B4,GTF3C2-AS2 | c.1324A>T (p.Lys442Ter) c.*590A>T (n.*590A>T) c.1321A>T (p.Lys441Ter) c.1384A>T (p.Lys462Ter) n.317A>T c.1387A>T (p.Lys463Ter) c.1315A>T (p.Lys439Ter) c.1279A>T (p.Lys427Ter) c.1276A>T (p.Lys426Ter) c.706A>T (p.Lys236Ter) n.1772-2658T>A c.1231A>T (p.Lys411Ter) c.739A>T (p.Lys247Ter) | |
2 | g.27364766T>C | CA346196974 | EIF2B4,GTF3C2-AS2 | c.1324A>G (p.Lys442Glu) c.*590A>G (n.*590A>G) c.1321A>G (p.Lys441Glu) c.1384A>G (p.Lys462Glu) n.317A>G c.1387A>G (p.Lys463Glu) c.1315A>G (p.Lys439Glu) c.1279A>G (p.Lys427Glu) c.1276A>G (p.Lys426Glu) c.706A>G (p.Lys236Glu) n.1772-2658T>C c.1231A>G (p.Lys411Glu) c.739A>G (p.Lys247Glu) | |
2 | g.27364766T>G | CA346196975 | EIF2B4,GTF3C2-AS2 | c.1324A>C (p.Lys442Gln) c.*590A>C (n.*590A>C) c.1321A>C (p.Lys441Gln) c.1384A>C (p.Lys462Gln) n.317A>C c.1387A>C (p.Lys463Gln) c.1315A>C (p.Lys439Gln) c.1279A>C (p.Lys427Gln) c.1276A>C (p.Lys426Gln) c.706A>C (p.Lys236Gln) n.1772-2658T>G c.1231A>C (p.Lys411Gln) c.739A>C (p.Lys247Gln) | |
2 | g.27364769_27364772del | CA2658336176 | EIF2B4,GTF3C2-AS2 | c.1321_1324del (p.Tyr441SerfsTer16) c.*587_*590del (n.*587_*590del) c.1318_1321del (p.Tyr440SerfsTer16) c.1381_1384del (p.Tyr461SerfsTer16) n.314_317del c.1384_1387del (p.Tyr462SerfsTer16) c.1312_1315del (p.Tyr438SerfsTer16) c.1276_1279del (p.Tyr426SerfsTer16) c.1273_1276del (p.Tyr425SerfsTer16) c.703_706del (p.Tyr235SerfsTer16) n.1772-2655_1772-2652del c.1228_1231del (p.Tyr410SerfsTer16) c.736_739del (p.Tyr246SerfsTer16) | gnomAD v4 |
2 | g.27364767G>A | CA425410105 | EIF2B4,GTF3C2-AS2 | c.1323C>T (p.Tyr441=) c.*589C>T (n.*589C>T) c.1320C>T (p.Tyr440=) c.1383C>T (p.Tyr461=) n.316C>T c.1386C>T (p.Tyr462=) c.1314C>T (p.Tyr438=) c.1278C>T (p.Tyr426=) c.1275C>T (p.Tyr425=) c.705C>T (p.Tyr235=) n.1772-2657G>A c.1230C>T (p.Tyr410=) c.738C>T (p.Tyr246=) | |
2 | g.27364767G>C | CA346196977 | EIF2B4,GTF3C2-AS2 | c.1323C>G (p.Tyr441Ter) c.*589C>G (n.*589C>G) c.1320C>G (p.Tyr440Ter) c.1383C>G (p.Tyr461Ter) n.316C>G c.1386C>G (p.Tyr462Ter) c.1314C>G (p.Tyr438Ter) c.1278C>G (p.Tyr426Ter) c.1275C>G (p.Tyr425Ter) c.705C>G (p.Tyr235Ter) n.1772-2657G>C c.1230C>G (p.Tyr410Ter) c.738C>G (p.Tyr246Ter) | |
2 | g.27364767G= | CA1240242918 | EIF2B4,GTF3C2-AS2 | c.1323C= (p.Tyr441=) c.*589C= (n.*589C=) c.1320C= (p.Tyr440=) c.1383C= (p.Tyr461=) n.316C= c.1386C= (p.Tyr462=) c.1314C= (p.Tyr438=) c.1278C= (p.Tyr426=) c.1275C= (p.Tyr425=) c.705C= (p.Tyr235=) n.1772-2657G= c.1230C= (p.Tyr410=) c.738C= (p.Tyr246=) | |
2 | g.27364767G>T | CA346196979 | EIF2B4,GTF3C2-AS2 | c.1323C>A (p.Tyr441Ter) c.*589C>A (n.*589C>A) c.1320C>A (p.Tyr440Ter) c.1383C>A (p.Tyr461Ter) n.316C>A c.1386C>A (p.Tyr462Ter) c.1314C>A (p.Tyr438Ter) c.1278C>A (p.Tyr426Ter) c.1275C>A (p.Tyr425Ter) c.705C>A (p.Tyr235Ter) n.1772-2657G>T c.1230C>A (p.Tyr410Ter) c.738C>A (p.Tyr246Ter) | gnomAD v4 |
2 | g.27364768T>A | CA346196983 | EIF2B4,GTF3C2-AS2 | c.1322A>T (p.Tyr441Phe) c.*588A>T (n.*588A>T) c.1319A>T (p.Tyr440Phe) c.1382A>T (p.Tyr461Phe) n.315A>T c.1385A>T (p.Tyr462Phe) c.1313A>T (p.Tyr438Phe) c.1277A>T (p.Tyr426Phe) c.1274A>T (p.Tyr425Phe) c.704A>T (p.Tyr235Phe) n.1772-2656T>A c.1229A>T (p.Tyr410Phe) c.737A>T (p.Tyr246Phe) | |
2 | g.27364768T>C | CA346196982 | EIF2B4,GTF3C2-AS2 | c.1322A>G (p.Tyr441Cys) c.*588A>G (n.*588A>G) c.1319A>G (p.Tyr440Cys) c.1382A>G (p.Tyr461Cys) n.315A>G c.1385A>G (p.Tyr462Cys) c.1313A>G (p.Tyr438Cys) c.1277A>G (p.Tyr426Cys) c.1274A>G (p.Tyr425Cys) c.704A>G (p.Tyr235Cys) n.1772-2656T>C c.1229A>G (p.Tyr410Cys) c.737A>G (p.Tyr246Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.27364768T>G | CA346196980 | EIF2B4,GTF3C2-AS2 | c.1322A>C (p.Tyr441Ser) c.*588A>C (n.*588A>C) c.1319A>C (p.Tyr440Ser) c.1382A>C (p.Tyr461Ser) n.315A>C c.1385A>C (p.Tyr462Ser) c.1313A>C (p.Tyr438Ser) c.1277A>C (p.Tyr426Ser) c.1274A>C (p.Tyr425Ser) c.704A>C (p.Tyr235Ser) n.1772-2656T>G c.1229A>C (p.Tyr410Ser) c.737A>C (p.Tyr246Ser) | |
2 | g.27364768T= | CA1240242919 | EIF2B4,GTF3C2-AS2 | c.1322A= (p.Tyr441=) c.*588A= (n.*588A=) c.1319A= (p.Tyr440=) c.1382A= (p.Tyr461=) n.315A= c.1385A= (p.Tyr462=) c.1313A= (p.Tyr438=) c.1277A= (p.Tyr426=) c.1274A= (p.Tyr425=) c.704A= (p.Tyr235=) n.1772-2656T= c.1229A= (p.Tyr410=) c.737A= (p.Tyr246=) | |
2 | g.27364768dup | CA767375689 | EIF2B4,GTF3C2-AS2 | c.1322dup (p.Tyr441Ter) c.*588dup (n.*588dup) c.1319dup (p.Tyr440Ter) c.1382dup (p.Tyr461Ter) n.315dup c.1385dup (p.Tyr462Ter) c.1313dup (p.Tyr438Ter) c.1277dup (p.Tyr426Ter) c.1274dup (p.Tyr425Ter) c.704dup (p.Tyr235Ter) n.1772-2656dup c.1229dup (p.Tyr410Ter) c.737dup (p.Tyr246Ter) | dbSNP |
2 | g.27364769A= | CA1240242920 | EIF2B4,GTF3C2-AS2 | c.1321T= (p.Tyr441=) c.*587T= (n.*587T=) c.1318T= (p.Tyr440=) c.1381T= (p.Tyr461=) n.314T= c.1384T= (p.Tyr462=) c.1312T= (p.Tyr438=) c.1276T= (p.Tyr426=) c.1273T= (p.Tyr425=) c.703T= (p.Tyr235=) n.1772-2655A= c.1228T= (p.Tyr410=) c.736T= (p.Tyr246=) | |
2 | g.27364769A>C | CA346196985 | EIF2B4,GTF3C2-AS2 | c.1321T>G (p.Tyr441Asp) c.*587T>G (n.*587T>G) c.1318T>G (p.Tyr440Asp) c.1381T>G (p.Tyr461Asp) n.314T>G c.1384T>G (p.Tyr462Asp) c.1312T>G (p.Tyr438Asp) c.1276T>G (p.Tyr426Asp) c.1273T>G (p.Tyr425Asp) c.703T>G (p.Tyr235Asp) n.1772-2655A>C c.1228T>G (p.Tyr410Asp) c.736T>G (p.Tyr246Asp) | |
2 | g.27364769A>G | CA1576604 | EIF2B4,GTF3C2-AS2 | c.1321T>C (p.Tyr441His) c.*587T>C (n.*587T>C) c.1318T>C (p.Tyr440His) c.1381T>C (p.Tyr461His) n.314T>C c.1384T>C (p.Tyr462His) c.1312T>C (p.Tyr438His) c.1276T>C (p.Tyr426His) c.1273T>C (p.Tyr425His) c.703T>C (p.Tyr235His) n.1772-2655A>G c.1228T>C (p.Tyr410His) c.736T>C (p.Tyr246His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364769A>T | CA346196987 | EIF2B4,GTF3C2-AS2 | c.1321T>A (p.Tyr441Asn) c.*587T>A (n.*587T>A) c.1318T>A (p.Tyr440Asn) c.1381T>A (p.Tyr461Asn) n.314T>A c.1384T>A (p.Tyr462Asn) c.1312T>A (p.Tyr438Asn) c.1276T>A (p.Tyr426Asn) c.1273T>A (p.Tyr425Asn) c.703T>A (p.Tyr235Asn) n.1772-2655A>T c.1228T>A (p.Tyr410Asn) c.736T>A (p.Tyr246Asn) | gnomAD v4 |
2 | g.27364770T>A | CA425410109 | EIF2B4,GTF3C2-AS2 | c.1320A>T (p.Thr440=) c.*586A>T (n.*586A>T) c.1317A>T (p.Thr439=) c.1380A>T (p.Thr460=) n.313A>T c.1383A>T (p.Thr461=) c.1311A>T (p.Thr437=) c.1275A>T (p.Thr425=) c.1272A>T (p.Thr424=) c.702A>T (p.Thr234=) n.1772-2654T>A c.1227A>T (p.Thr409=) c.735A>T (p.Thr245=) | |
2 | g.27364770T>C | CA425410110 | EIF2B4,GTF3C2-AS2 | c.1320A>G (p.Thr440=) c.*586A>G (n.*586A>G) c.1317A>G (p.Thr439=) c.1380A>G (p.Thr460=) n.313A>G c.1383A>G (p.Thr461=) c.1311A>G (p.Thr437=) c.1275A>G (p.Thr425=) c.1272A>G (p.Thr424=) c.702A>G (p.Thr234=) n.1772-2654T>C c.1227A>G (p.Thr409=) c.735A>G (p.Thr245=) | |
2 | g.27364770T>G | CA425410112 | EIF2B4,GTF3C2-AS2 | c.1320A>C (p.Thr440=) c.*586A>C (n.*586A>C) c.1317A>C (p.Thr439=) c.1380A>C (p.Thr460=) n.313A>C c.1383A>C (p.Thr461=) c.1311A>C (p.Thr437=) c.1275A>C (p.Thr425=) c.1272A>C (p.Thr424=) c.702A>C (p.Thr234=) n.1772-2654T>G c.1227A>C (p.Thr409=) c.735A>C (p.Thr245=) | |
2 | g.27364771G>A | CA346196988 | EIF2B4,GTF3C2-AS2 | c.1319C>T (p.Thr440Ile) c.*585C>T (n.*585C>T) c.1316C>T (p.Thr439Ile) c.1379C>T (p.Thr460Ile) n.312C>T c.1382C>T (p.Thr461Ile) c.1310C>T (p.Thr437Ile) c.1274C>T (p.Thr425Ile) c.1271C>T (p.Thr424Ile) c.701C>T (p.Thr234Ile) n.1772-2653G>A c.1226C>T (p.Thr409Ile) c.734C>T (p.Thr245Ile) | |
2 | g.27364771G>C | CA346196990 | EIF2B4,GTF3C2-AS2 | c.1319C>G (p.Thr440Arg) c.*585C>G (n.*585C>G) c.1316C>G (p.Thr439Arg) c.1379C>G (p.Thr460Arg) n.312C>G c.1382C>G (p.Thr461Arg) c.1310C>G (p.Thr437Arg) c.1274C>G (p.Thr425Arg) c.1271C>G (p.Thr424Arg) c.701C>G (p.Thr234Arg) n.1772-2653G>C c.1226C>G (p.Thr409Arg) c.734C>G (p.Thr245Arg) | |
2 | g.27364771G>T | CA346196991 | EIF2B4,GTF3C2-AS2 | c.1319C>A (p.Thr440Lys) c.*585C>A (n.*585C>A) c.1316C>A (p.Thr439Lys) c.1379C>A (p.Thr460Lys) n.312C>A c.1382C>A (p.Thr461Lys) c.1310C>A (p.Thr437Lys) c.1274C>A (p.Thr425Lys) c.1271C>A (p.Thr424Lys) c.701C>A (p.Thr234Lys) n.1772-2653G>T c.1226C>A (p.Thr409Lys) c.734C>A (p.Thr245Lys) | |
2 | g.27364772T>A | CA346196995 | EIF2B4,GTF3C2-AS2 | c.1318A>T (p.Thr440Ser) c.*584A>T (n.*584A>T) c.1315A>T (p.Thr439Ser) c.1378A>T (p.Thr460Ser) n.311A>T c.1381A>T (p.Thr461Ser) c.1309A>T (p.Thr437Ser) c.1273A>T (p.Thr425Ser) c.1270A>T (p.Thr424Ser) c.700A>T (p.Thr234Ser) n.1772-2652T>A c.1225A>T (p.Thr409Ser) c.733A>T (p.Thr245Ser) | |
2 | g.27364772T>C | CA346196993 | EIF2B4,GTF3C2-AS2 | c.1318A>G (p.Thr440Ala) c.*584A>G (n.*584A>G) c.1315A>G (p.Thr439Ala) c.1378A>G (p.Thr460Ala) n.311A>G c.1381A>G (p.Thr461Ala) c.1309A>G (p.Thr437Ala) c.1273A>G (p.Thr425Ala) c.1270A>G (p.Thr424Ala) c.700A>G (p.Thr234Ala) n.1772-2652T>C c.1225A>G (p.Thr409Ala) c.733A>G (p.Thr245Ala) | gnomAD v4 |
2 | g.27364772T>G | CA346196994 | EIF2B4,GTF3C2-AS2 | c.1318A>C (p.Thr440Pro) c.*584A>C (n.*584A>C) c.1315A>C (p.Thr439Pro) c.1378A>C (p.Thr460Pro) n.311A>C c.1381A>C (p.Thr461Pro) c.1309A>C (p.Thr437Pro) c.1273A>C (p.Thr425Pro) c.1270A>C (p.Thr424Pro) c.700A>C (p.Thr234Pro) n.1772-2652T>G c.1225A>C (p.Thr409Pro) c.733A>C (p.Thr245Pro) | |
2 | g.27364773T>A | CA346196997 | EIF2B4,GTF3C2-AS2 | c.1317A>T (p.Glu439Asp) c.*583A>T (n.*583A>T) c.1314A>T (p.Glu438Asp) c.1377A>T (p.Glu459Asp) n.310A>T c.1380A>T (p.Glu460Asp) c.1308A>T (p.Glu436Asp) c.1272A>T (p.Glu424Asp) c.1269A>T (p.Glu423Asp) c.699A>T (p.Glu233Asp) n.1772-2651T>A c.1224A>T (p.Glu408Asp) c.732A>T (p.Glu244Asp) | |
2 | g.27364773T>C | CA425410121 | EIF2B4,GTF3C2-AS2 | c.1317A>G (p.Glu439=) c.*583A>G (n.*583A>G) c.1314A>G (p.Glu438=) c.1377A>G (p.Glu459=) n.310A>G c.1380A>G (p.Glu460=) c.1308A>G (p.Glu436=) c.1272A>G (p.Glu424=) c.1269A>G (p.Glu423=) c.699A>G (p.Glu233=) n.1772-2651T>C c.1224A>G (p.Glu408=) c.732A>G (p.Glu244=) | |
2 | g.27364773T>G | CA346196999 | EIF2B4,GTF3C2-AS2 | c.1317A>C (p.Glu439Asp) c.*583A>C (n.*583A>C) c.1314A>C (p.Glu438Asp) c.1377A>C (p.Glu459Asp) n.310A>C c.1380A>C (p.Glu460Asp) c.1308A>C (p.Glu436Asp) c.1272A>C (p.Glu424Asp) c.1269A>C (p.Glu423Asp) c.699A>C (p.Glu233Asp) n.1772-2651T>G c.1224A>C (p.Glu408Asp) c.732A>C (p.Glu244Asp) | |
2 | g.27364774T>A | CA346197001 | EIF2B4,GTF3C2-AS2 | c.1316A>T (p.Glu439Val) c.*582A>T (n.*582A>T) c.1313A>T (p.Glu438Val) c.1376A>T (p.Glu459Val) n.309A>T c.1379A>T (p.Glu460Val) c.1307A>T (p.Glu436Val) c.1271A>T (p.Glu424Val) c.1268A>T (p.Glu423Val) c.698A>T (p.Glu233Val) n.1772-2650T>A c.1223A>T (p.Glu408Val) c.731A>T (p.Glu244Val) | |
2 | g.27364774T>C | CA346197002 | EIF2B4,GTF3C2-AS2 | c.1316A>G (p.Glu439Gly) c.*582A>G (n.*582A>G) c.1313A>G (p.Glu438Gly) c.1376A>G (p.Glu459Gly) n.309A>G c.1379A>G (p.Glu460Gly) c.1307A>G (p.Glu436Gly) c.1271A>G (p.Glu424Gly) c.1268A>G (p.Glu423Gly) c.698A>G (p.Glu233Gly) n.1772-2650T>C c.1223A>G (p.Glu408Gly) c.731A>G (p.Glu244Gly) | |
2 | g.27364774T>G | CA346197004 | EIF2B4,GTF3C2-AS2 | c.1316A>C (p.Glu439Ala) c.*582A>C (n.*582A>C) c.1313A>C (p.Glu438Ala) c.1376A>C (p.Glu459Ala) n.309A>C c.1379A>C (p.Glu460Ala) c.1307A>C (p.Glu436Ala) c.1271A>C (p.Glu424Ala) c.1268A>C (p.Glu423Ala) c.698A>C (p.Glu233Ala) n.1772-2650T>G c.1223A>C (p.Glu408Ala) c.731A>C (p.Glu244Ala) | |
2 | g.27364775C>A | CA346197005 | EIF2B4,GTF3C2-AS2 | c.1315G>T (p.Glu439Ter) c.*581G>T (n.*581G>T) c.1312G>T (p.Glu438Ter) c.1375G>T (p.Glu459Ter) n.308G>T c.1378G>T (p.Glu460Ter) c.1306G>T (p.Glu436Ter) c.1270G>T (p.Glu424Ter) c.1267G>T (p.Glu423Ter) c.697G>T (p.Glu233Ter) n.1772-2649C>A c.1222G>T (p.Glu408Ter) c.730G>T (p.Glu244Ter) | |
2 | g.27364775C>G | CA346197008 | EIF2B4,GTF3C2-AS2 | c.1315G>C (p.Glu439Gln) c.*581G>C (n.*581G>C) c.1312G>C (p.Glu438Gln) c.1375G>C (p.Glu459Gln) n.308G>C c.1378G>C (p.Glu460Gln) c.1306G>C (p.Glu436Gln) c.1270G>C (p.Glu424Gln) c.1267G>C (p.Glu423Gln) c.697G>C (p.Glu233Gln) n.1772-2649C>G c.1222G>C (p.Glu408Gln) c.730G>C (p.Glu244Gln) | |
2 | g.27364775C>T | CA346197006 | EIF2B4,GTF3C2-AS2 | c.1315G>A (p.Glu439Lys) c.*581G>A (n.*581G>A) c.1312G>A (p.Glu438Lys) c.1375G>A (p.Glu459Lys) n.308G>A c.1378G>A (p.Glu460Lys) c.1306G>A (p.Glu436Lys) c.1270G>A (p.Glu424Lys) c.1267G>A (p.Glu423Lys) c.697G>A (p.Glu233Lys) n.1772-2649C>T c.1222G>A (p.Glu408Lys) c.730G>A (p.Glu244Lys) | |
2 | g.27364776A>C | CA346197009 | EIF2B4,GTF3C2-AS2 | c.1314T>G (p.Cys438Trp) c.*580T>G (n.*580T>G) c.1311T>G (p.Cys437Trp) c.1374T>G (p.Cys458Trp) n.307T>G c.1377T>G (p.Cys459Trp) c.1305T>G (p.Cys435Trp) c.1269T>G (p.Cys423Trp) c.1266T>G (p.Cys422Trp) c.696T>G (p.Cys232Trp) n.1772-2648A>C c.1221T>G (p.Cys407Trp) c.729T>G (p.Cys243Trp) | |
2 | g.27364776A>G | CA425410134 | EIF2B4,GTF3C2-AS2 | c.1314T>C (p.Cys438=) c.*580T>C (n.*580T>C) c.1311T>C (p.Cys437=) c.1374T>C (p.Cys458=) n.307T>C c.1377T>C (p.Cys459=) c.1305T>C (p.Cys435=) c.1269T>C (p.Cys423=) c.1266T>C (p.Cys422=) c.696T>C (p.Cys232=) n.1772-2648A>G c.1221T>C (p.Cys407=) c.729T>C (p.Cys243=) | gnomAD v4 |
2 | g.27364776A>T | CA346197010 | EIF2B4,GTF3C2-AS2 | c.1314T>A (p.Cys438Ter) c.*580T>A (n.*580T>A) c.1311T>A (p.Cys437Ter) c.1374T>A (p.Cys458Ter) n.307T>A c.1377T>A (p.Cys459Ter) c.1305T>A (p.Cys435Ter) c.1269T>A (p.Cys423Ter) c.1266T>A (p.Cys422Ter) c.696T>A (p.Cys232Ter) n.1772-2648A>T c.1221T>A (p.Cys407Ter) c.729T>A (p.Cys243Ter) | |
2 | g.27364777C>A | CA346197012 | EIF2B4,GTF3C2-AS2 | c.1313G>T (p.Cys438Phe) c.*579G>T (n.*579G>T) c.1310G>T (p.Cys437Phe) c.1373G>T (p.Cys458Phe) n.306G>T c.1376G>T (p.Cys459Phe) c.1304G>T (p.Cys435Phe) c.1268G>T (p.Cys423Phe) c.1265G>T (p.Cys422Phe) c.695G>T (p.Cys232Phe) n.1772-2647C>A c.1220G>T (p.Cys407Phe) c.728G>T (p.Cys243Phe) | |
2 | g.27364777C>G | CA346197014 | EIF2B4,GTF3C2-AS2 | c.1313G>C (p.Cys438Ser) c.*579G>C (n.*579G>C) c.1310G>C (p.Cys437Ser) c.1373G>C (p.Cys458Ser) n.306G>C c.1376G>C (p.Cys459Ser) c.1304G>C (p.Cys435Ser) c.1268G>C (p.Cys423Ser) c.1265G>C (p.Cys422Ser) c.695G>C (p.Cys232Ser) n.1772-2647C>G c.1220G>C (p.Cys407Ser) c.728G>C (p.Cys243Ser) | |
2 | g.27364777C>T | CA346197015 | EIF2B4,GTF3C2-AS2 | c.1313G>A (p.Cys438Tyr) c.*579G>A (n.*579G>A) c.1310G>A (p.Cys437Tyr) c.1373G>A (p.Cys458Tyr) n.306G>A c.1376G>A (p.Cys459Tyr) c.1304G>A (p.Cys435Tyr) c.1268G>A (p.Cys423Tyr) c.1265G>A (p.Cys422Tyr) c.695G>A (p.Cys232Tyr) n.1772-2647C>T c.1220G>A (p.Cys407Tyr) c.728G>A (p.Cys243Tyr) | |
2 | g.27364778A>C | CA346197017 | EIF2B4,GTF3C2-AS2 | c.1312T>G (p.Cys438Gly) c.*578T>G (n.*578T>G) c.1309T>G (p.Cys437Gly) c.1372T>G (p.Cys458Gly) n.305T>G c.1375T>G (p.Cys459Gly) c.1303T>G (p.Cys435Gly) c.1267T>G (p.Cys423Gly) c.1264T>G (p.Cys422Gly) c.694T>G (p.Cys232Gly) n.1772-2646A>C c.1219T>G (p.Cys407Gly) c.727T>G (p.Cys243Gly) | |
2 | g.27364778A>G | CA346197018 | EIF2B4,GTF3C2-AS2 | c.1312T>C (p.Cys438Arg) c.*578T>C (n.*578T>C) c.1309T>C (p.Cys437Arg) c.1372T>C (p.Cys458Arg) n.305T>C c.1375T>C (p.Cys459Arg) c.1303T>C (p.Cys435Arg) c.1267T>C (p.Cys423Arg) c.1264T>C (p.Cys422Arg) c.694T>C (p.Cys232Arg) n.1772-2646A>G c.1219T>C (p.Cys407Arg) c.727T>C (p.Cys243Arg) | |
2 | g.27364778A>T | CA346197019 | EIF2B4,GTF3C2-AS2 | c.1312T>A (p.Cys438Ser) c.*578T>A (n.*578T>A) c.1309T>A (p.Cys437Ser) c.1372T>A (p.Cys458Ser) n.305T>A c.1375T>A (p.Cys459Ser) c.1303T>A (p.Cys435Ser) c.1267T>A (p.Cys423Ser) c.1264T>A (p.Cys422Ser) c.694T>A (p.Cys232Ser) n.1772-2646A>T c.1219T>A (p.Cys407Ser) c.727T>A (p.Cys243Ser) | |
2 | g.27364779G>A | CA1576605 | EIF2B4,GTF3C2-AS2 | c.1311C>T (p.Cys437=) c.*577C>T (n.*577C>T) c.1308C>T (p.Cys436=) c.1371C>T (p.Cys457=) n.304C>T c.1374C>T (p.Cys458=) c.1302C>T (p.Cys434=) c.1266C>T (p.Cys422=) c.1263C>T (p.Cys421=) c.693C>T (p.Cys231=) n.1772-2645G>A c.1218C>T (p.Cys406=) c.726C>T (p.Cys242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364779G>C | CA346197022 | EIF2B4,GTF3C2-AS2 | c.1311C>G (p.Cys437Trp) c.*577C>G (n.*577C>G) c.1308C>G (p.Cys436Trp) c.1371C>G (p.Cys457Trp) n.304C>G c.1374C>G (p.Cys458Trp) c.1302C>G (p.Cys434Trp) c.1266C>G (p.Cys422Trp) c.1263C>G (p.Cys421Trp) c.693C>G (p.Cys231Trp) n.1772-2645G>C c.1218C>G (p.Cys406Trp) c.726C>G (p.Cys242Trp) | |
2 | g.27364779G= | CA1240242921 | EIF2B4,GTF3C2-AS2 | c.1311C= (p.Cys437=) c.*577C= (n.*577C=) c.1308C= (p.Cys436=) c.1371C= (p.Cys457=) n.304C= c.1374C= (p.Cys458=) c.1302C= (p.Cys434=) c.1266C= (p.Cys422=) c.1263C= (p.Cys421=) c.693C= (p.Cys231=) n.1772-2645G= c.1218C= (p.Cys406=) c.726C= (p.Cys242=) | |
2 | g.27364779G>T | CA346197024 | EIF2B4,GTF3C2-AS2 | c.1311C>A (p.Cys437Ter) c.*577C>A (n.*577C>A) c.1308C>A (p.Cys436Ter) c.1371C>A (p.Cys457Ter) n.304C>A c.1374C>A (p.Cys458Ter) c.1302C>A (p.Cys434Ter) c.1266C>A (p.Cys422Ter) c.1263C>A (p.Cys421Ter) c.693C>A (p.Cys231Ter) n.1772-2645G>T c.1218C>A (p.Cys406Ter) c.726C>A (p.Cys242Ter) | |
2 | g.27364780C>A | CA10614899 | EIF2B4,GTF3C2-AS2 | c.1310G>T (p.Cys437Phe) c.*576G>T (n.*576G>T) c.1307G>T (p.Cys436Phe) c.1370G>T (p.Cys457Phe) n.303G>T c.1373G>T (p.Cys458Phe) c.1301G>T (p.Cys434Phe) c.1265G>T (p.Cys422Phe) c.1262G>T (p.Cys421Phe) c.692G>T (p.Cys231Phe) n.1772-2644C>A c.1217G>T (p.Cys406Phe) c.725G>T (p.Cys242Phe) | ClinVar dbSNP gnomAD v4 |
2 | g.27364780C= | CA1240242922 | EIF2B4,GTF3C2-AS2 | c.1310G= (p.Cys437=) c.*576G= (n.*576G=) c.1307G= (p.Cys436=) c.1370G= (p.Cys457=) n.303G= c.1373G= (p.Cys458=) c.1301G= (p.Cys434=) c.1265G= (p.Cys422=) c.1262G= (p.Cys421=) c.692G= (p.Cys231=) n.1772-2644C= c.1217G= (p.Cys406=) c.725G= (p.Cys242=) | |
2 | g.27364780C>G | CA346197027 | EIF2B4,GTF3C2-AS2 | c.1310G>C (p.Cys437Ser) c.*576G>C (n.*576G>C) c.1307G>C (p.Cys436Ser) c.1370G>C (p.Cys457Ser) n.303G>C c.1373G>C (p.Cys458Ser) c.1301G>C (p.Cys434Ser) c.1265G>C (p.Cys422Ser) c.1262G>C (p.Cys421Ser) c.692G>C (p.Cys231Ser) n.1772-2644C>G c.1217G>C (p.Cys406Ser) c.725G>C (p.Cys242Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.27364780C>T | CA346197026 | EIF2B4,GTF3C2-AS2 | c.1310G>A (p.Cys437Tyr) c.*576G>A (n.*576G>A) c.1307G>A (p.Cys436Tyr) c.1370G>A (p.Cys457Tyr) n.303G>A c.1373G>A (p.Cys458Tyr) c.1301G>A (p.Cys434Tyr) c.1265G>A (p.Cys422Tyr) c.1262G>A (p.Cys421Tyr) c.692G>A (p.Cys231Tyr) n.1772-2644C>T c.1217G>A (p.Cys406Tyr) c.725G>A (p.Cys242Tyr) | |
2 | g.27364781A>C | CA346197030 | EIF2B4,GTF3C2-AS2 | c.1309T>G (p.Cys437Gly) c.*575T>G (n.*575T>G) c.1306T>G (p.Cys436Gly) c.1369T>G (p.Cys457Gly) n.302T>G c.1372T>G (p.Cys458Gly) c.1300T>G (p.Cys434Gly) c.1264T>G (p.Cys422Gly) c.1261T>G (p.Cys421Gly) c.691T>G (p.Cys231Gly) n.1772-2643A>C c.1216T>G (p.Cys406Gly) c.724T>G (p.Cys242Gly) | |
2 | g.27364781A>G | CA346197028 | EIF2B4,GTF3C2-AS2 | c.1309T>C (p.Cys437Arg) c.*575T>C (n.*575T>C) c.1306T>C (p.Cys436Arg) c.1369T>C (p.Cys457Arg) n.302T>C c.1372T>C (p.Cys458Arg) c.1300T>C (p.Cys434Arg) c.1264T>C (p.Cys422Arg) c.1261T>C (p.Cys421Arg) c.691T>C (p.Cys231Arg) n.1772-2643A>G c.1216T>C (p.Cys406Arg) c.724T>C (p.Cys242Arg) | |
2 | g.27364781A>T | CA346197031 | EIF2B4,GTF3C2-AS2 | c.1309T>A (p.Cys437Ser) c.*575T>A (n.*575T>A) c.1306T>A (p.Cys436Ser) c.1369T>A (p.Cys457Ser) n.302T>A c.1372T>A (p.Cys458Ser) c.1300T>A (p.Cys434Ser) c.1264T>A (p.Cys422Ser) c.1261T>A (p.Cys421Ser) c.691T>A (p.Cys231Ser) n.1772-2643A>T c.1216T>A (p.Cys406Ser) c.724T>A (p.Cys242Ser) | |
2 | g.27364782A= | CA1240242923 | EIF2B4,GTF3C2-AS2 | c.1308T= (p.Val436=) c.*574T= (n.*574T=) c.1305T= (p.Val435=) c.1368T= (p.Val456=) n.301T= c.1371T= (p.Val457=) c.1299T= (p.Val433=) c.1263T= (p.Val421=) c.1260T= (p.Val420=) c.690T= (p.Val230=) n.1772-2642A= c.1215T= (p.Val405=) c.723T= (p.Val241=) | |
2 | g.27364782A>C | CA44509619 | EIF2B4,GTF3C2-AS2 | c.1308T>G (p.Val436=) c.*574T>G (n.*574T>G) c.1305T>G (p.Val435=) c.1368T>G (p.Val456=) n.301T>G c.1371T>G (p.Val457=) c.1299T>G (p.Val433=) c.1263T>G (p.Val421=) c.1260T>G (p.Val420=) c.690T>G (p.Val230=) n.1772-2642A>C c.1215T>G (p.Val405=) c.723T>G (p.Val241=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27364782A>G | CA425410150 | EIF2B4,GTF3C2-AS2 | c.1308T>C (p.Val436=) c.*574T>C (n.*574T>C) c.1305T>C (p.Val435=) c.1368T>C (p.Val456=) n.301T>C c.1371T>C (p.Val457=) c.1299T>C (p.Val433=) c.1263T>C (p.Val421=) c.1260T>C (p.Val420=) c.690T>C (p.Val230=) n.1772-2642A>G c.1215T>C (p.Val405=) c.723T>C (p.Val241=) | |
2 | g.27364782A>T | CA425410152 | EIF2B4,GTF3C2-AS2 | c.1308T>A (p.Val436=) c.*574T>A (n.*574T>A) c.1305T>A (p.Val435=) c.1368T>A (p.Val456=) n.301T>A c.1371T>A (p.Val457=) c.1299T>A (p.Val433=) c.1263T>A (p.Val421=) c.1260T>A (p.Val420=) c.690T>A (p.Val230=) n.1772-2642A>T c.1215T>A (p.Val405=) c.723T>A (p.Val241=) | |
2 | g.27364783A>C | CA346197033 | EIF2B4,GTF3C2-AS2 | c.1307T>G (p.Val436Gly) c.*573T>G (n.*573T>G) c.1304T>G (p.Val435Gly) c.1367T>G (p.Val456Gly) n.300T>G c.1370T>G (p.Val457Gly) c.1298T>G (p.Val433Gly) c.1262T>G (p.Val421Gly) c.1259T>G (p.Val420Gly) c.689T>G (p.Val230Gly) n.1772-2641A>C c.1214T>G (p.Val405Gly) c.722T>G (p.Val241Gly) | |
2 | g.27364783A>G | CA346197035 | EIF2B4,GTF3C2-AS2 | c.1307T>C (p.Val436Ala) c.*573T>C (n.*573T>C) c.1304T>C (p.Val435Ala) c.1367T>C (p.Val456Ala) n.300T>C c.1370T>C (p.Val457Ala) c.1298T>C (p.Val433Ala) c.1262T>C (p.Val421Ala) c.1259T>C (p.Val420Ala) c.689T>C (p.Val230Ala) n.1772-2641A>G c.1214T>C (p.Val405Ala) c.722T>C (p.Val241Ala) | |
2 | g.27364783A>T | CA346197034 | EIF2B4,GTF3C2-AS2 | c.1307T>A (p.Val436Asp) c.*573T>A (n.*573T>A) c.1304T>A (p.Val435Asp) c.1367T>A (p.Val456Asp) n.300T>A c.1370T>A (p.Val457Asp) c.1298T>A (p.Val433Asp) c.1262T>A (p.Val421Asp) c.1259T>A (p.Val420Asp) c.689T>A (p.Val230Asp) n.1772-2641A>T c.1214T>A (p.Val405Asp) c.722T>A (p.Val241Asp) | |
2 | g.27364784C>A | CA346197036 | EIF2B4,GTF3C2-AS2 | c.1306G>T (p.Val436Phe) c.*572G>T (n.*572G>T) c.1303G>T (p.Val435Phe) c.1366G>T (p.Val456Phe) n.299G>T c.1369G>T (p.Val457Phe) c.1297G>T (p.Val433Phe) c.1261G>T (p.Val421Phe) c.1258G>T (p.Val420Phe) c.688G>T (p.Val230Phe) n.1772-2640C>A c.1213G>T (p.Val405Phe) c.721G>T (p.Val241Phe) | |
2 | g.27364784C>G | CA346197039 | EIF2B4,GTF3C2-AS2 | c.1306G>C (p.Val436Leu) c.*572G>C (n.*572G>C) c.1303G>C (p.Val435Leu) c.1366G>C (p.Val456Leu) n.299G>C c.1369G>C (p.Val457Leu) c.1297G>C (p.Val433Leu) c.1261G>C (p.Val421Leu) c.1258G>C (p.Val420Leu) c.688G>C (p.Val230Leu) n.1772-2640C>G c.1213G>C (p.Val405Leu) c.721G>C (p.Val241Leu) | |
2 | g.27364784C>T | CA346197037 | EIF2B4,GTF3C2-AS2 | c.1306G>A (p.Val436Ile) c.*572G>A (n.*572G>A) c.1303G>A (p.Val435Ile) c.1366G>A (p.Val456Ile) n.299G>A c.1369G>A (p.Val457Ile) c.1297G>A (p.Val433Ile) c.1261G>A (p.Val421Ile) c.1258G>A (p.Val420Ile) c.688G>A (p.Val230Ile) n.1772-2640C>T c.1213G>A (p.Val405Ile) c.721G>A (p.Val241Ile) | |
2 | g.27364785C>A | CA425410164 | EIF2B4,GTF3C2-AS2 | c.1305G>T (p.Leu435=) c.*571G>T (n.*571G>T) c.1302G>T (p.Leu434=) c.1365G>T (p.Leu455=) n.298G>T c.1368G>T (p.Leu456=) c.1296G>T (p.Leu432=) c.1260G>T (p.Leu420=) c.1257G>T (p.Leu419=) c.687G>T (p.Leu229=) n.1772-2639C>A c.1212G>T (p.Leu404=) c.720G>T (p.Leu240=) | |
2 | g.27364785C= | CA1240242924 | EIF2B4,GTF3C2-AS2 | c.1305G= (p.Leu435=) c.*571G= (n.*571G=) c.1302G= (p.Leu434=) c.1365G= (p.Leu455=) n.298G= c.1368G= (p.Leu456=) c.1296G= (p.Leu432=) c.1260G= (p.Leu420=) c.1257G= (p.Leu419=) c.687G= (p.Leu229=) n.1772-2639C= c.1212G= (p.Leu404=) c.720G= (p.Leu240=) | |
2 | g.27364785C>G | CA425410166 | EIF2B4,GTF3C2-AS2 | c.1305G>C (p.Leu435=) c.*571G>C (n.*571G>C) c.1302G>C (p.Leu434=) c.1365G>C (p.Leu455=) n.298G>C c.1368G>C (p.Leu456=) c.1296G>C (p.Leu432=) c.1260G>C (p.Leu420=) c.1257G>C (p.Leu419=) c.687G>C (p.Leu229=) n.1772-2639C>G c.1212G>C (p.Leu404=) c.720G>C (p.Leu240=) | |
2 | g.27364785C>T | CA425410167 | EIF2B4,GTF3C2-AS2 | c.1305G>A (p.Leu435=) c.*571G>A (n.*571G>A) c.1302G>A (p.Leu434=) c.1365G>A (p.Leu455=) n.298G>A c.1368G>A (p.Leu456=) c.1296G>A (p.Leu432=) c.1260G>A (p.Leu420=) c.1257G>A (p.Leu419=) c.687G>A (p.Leu229=) n.1772-2639C>T c.1212G>A (p.Leu404=) c.720G>A (p.Leu240=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.27364786A>C | CA346197040 | EIF2B4,GTF3C2-AS2 | c.1304T>G (p.Leu435Arg) c.*570T>G (n.*570T>G) c.1301T>G (p.Leu434Arg) c.1364T>G (p.Leu455Arg) n.297T>G c.1367T>G (p.Leu456Arg) c.1295T>G (p.Leu432Arg) c.1259T>G (p.Leu420Arg) c.1256T>G (p.Leu419Arg) c.686T>G (p.Leu229Arg) n.1772-2638A>C c.1211T>G (p.Leu404Arg) c.719T>G (p.Leu240Arg) | |
2 | g.27364786A>G | CA346197041 | EIF2B4,GTF3C2-AS2 | c.1304T>C (p.Leu435Pro) c.*570T>C (n.*570T>C) c.1301T>C (p.Leu434Pro) c.1364T>C (p.Leu455Pro) n.297T>C c.1367T>C (p.Leu456Pro) c.1295T>C (p.Leu432Pro) c.1259T>C (p.Leu420Pro) c.1256T>C (p.Leu419Pro) c.686T>C (p.Leu229Pro) n.1772-2638A>G c.1211T>C (p.Leu404Pro) c.719T>C (p.Leu240Pro) | gnomAD v4 |
2 | g.27364786A>T | CA346197042 | EIF2B4,GTF3C2-AS2 | c.1304T>A (p.Leu435Gln) c.*570T>A (n.*570T>A) c.1301T>A (p.Leu434Gln) c.1364T>A (p.Leu455Gln) n.297T>A c.1367T>A (p.Leu456Gln) c.1295T>A (p.Leu432Gln) c.1259T>A (p.Leu420Gln) c.1256T>A (p.Leu419Gln) c.686T>A (p.Leu229Gln) n.1772-2638A>T c.1211T>A (p.Leu404Gln) c.719T>A (p.Leu240Gln) | |
2 | g.27364787G>A | CA44509629 | EIF2B4,GTF3C2-AS2 | c.1303C>T (p.Leu435=) c.*569C>T (n.*569C>T) c.1300C>T (p.Leu434=) c.1363C>T (p.Leu455=) n.296C>T c.1366C>T (p.Leu456=) c.1294C>T (p.Leu432=) c.1258C>T (p.Leu420=) c.1255C>T (p.Leu419=) c.685C>T (p.Leu229=) n.1772-2637G>A c.1210C>T (p.Leu404=) c.718C>T (p.Leu240=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364787G>C | CA346197044 | EIF2B4,GTF3C2-AS2 | c.1303C>G (p.Leu435Val) c.*569C>G (n.*569C>G) c.1300C>G (p.Leu434Val) c.1363C>G (p.Leu455Val) n.296C>G c.1366C>G (p.Leu456Val) c.1294C>G (p.Leu432Val) c.1258C>G (p.Leu420Val) c.1255C>G (p.Leu419Val) c.685C>G (p.Leu229Val) n.1772-2637G>C c.1210C>G (p.Leu404Val) c.718C>G (p.Leu240Val) | gnomAD v4 |
2 | g.27364787G= | CA1240242925 | EIF2B4,GTF3C2-AS2 | c.1303C= (p.Leu435=) c.*569C= (n.*569C=) c.1300C= (p.Leu434=) c.1363C= (p.Leu455=) n.296C= c.1366C= (p.Leu456=) c.1294C= (p.Leu432=) c.1258C= (p.Leu420=) c.1255C= (p.Leu419=) c.685C= (p.Leu229=) n.1772-2637G= c.1210C= (p.Leu404=) c.718C= (p.Leu240=) | |
2 | g.27364787G>T | CA346197046 | EIF2B4,GTF3C2-AS2 | c.1303C>A (p.Leu435Met) c.*569C>A (n.*569C>A) c.1300C>A (p.Leu434Met) c.1363C>A (p.Leu455Met) n.296C>A c.1366C>A (p.Leu456Met) c.1294C>A (p.Leu432Met) c.1258C>A (p.Leu420Met) c.1255C>A (p.Leu419Met) c.685C>A (p.Leu229Met) n.1772-2637G>T c.1210C>A (p.Leu404Met) c.718C>A (p.Leu240Met) | |
2 | g.27364788C>A | CA425410175 | EIF2B4,GTF3C2-AS2 | c.1302G>T (p.Val434=) c.*568G>T (n.*568G>T) c.1299G>T (p.Val433=) c.1362G>T (p.Val454=) n.295G>T c.1365G>T (p.Val455=) c.1293G>T (p.Val431=) c.1257G>T (p.Val419=) c.1254G>T (p.Val418=) c.684G>T (p.Val228=) n.1772-2636C>A c.1209G>T (p.Val403=) c.717G>T (p.Val239=) | ClinVar |
2 | g.27364788C= | CA1240242926 | EIF2B4,GTF3C2-AS2 | c.1302G= (p.Val434=) c.*568G= (n.*568G=) c.1299G= (p.Val433=) c.1362G= (p.Val454=) n.295G= c.1365G= (p.Val455=) c.1293G= (p.Val431=) c.1257G= (p.Val419=) c.1254G= (p.Val418=) c.684G= (p.Val228=) n.1772-2636C= c.1209G= (p.Val403=) c.717G= (p.Val239=) | |
2 | g.27364788C>G | CA425410177 | EIF2B4,GTF3C2-AS2 | c.1302G>C (p.Val434=) c.*568G>C (n.*568G>C) c.1299G>C (p.Val433=) c.1362G>C (p.Val454=) n.295G>C c.1365G>C (p.Val455=) c.1293G>C (p.Val431=) c.1257G>C (p.Val419=) c.1254G>C (p.Val418=) c.684G>C (p.Val228=) n.1772-2636C>G c.1209G>C (p.Val403=) c.717G>C (p.Val239=) | |
2 | g.27364788C>T | CA425410178 | EIF2B4,GTF3C2-AS2 | c.1302G>A (p.Val434=) c.*568G>A (n.*568G>A) c.1299G>A (p.Val433=) c.1362G>A (p.Val454=) n.295G>A c.1365G>A (p.Val455=) c.1293G>A (p.Val431=) c.1257G>A (p.Val419=) c.1254G>A (p.Val418=) c.684G>A (p.Val228=) n.1772-2636C>T c.1209G>A (p.Val403=) c.717G>A (p.Val239=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364789A>C | CA346197048 | EIF2B4,GTF3C2-AS2 | c.1301T>G (p.Val434Gly) c.*567T>G (n.*567T>G) c.1298T>G (p.Val433Gly) c.1361T>G (p.Val454Gly) n.294T>G c.1364T>G (p.Val455Gly) c.1292T>G (p.Val431Gly) c.1256T>G (p.Val419Gly) c.1253T>G (p.Val418Gly) c.683T>G (p.Val228Gly) n.1772-2635A>C c.1208T>G (p.Val403Gly) c.716T>G (p.Val239Gly) | |
2 | g.27364789A>G | CA346197049 | EIF2B4,GTF3C2-AS2 | c.1301T>C (p.Val434Ala) c.*567T>C (n.*567T>C) c.1298T>C (p.Val433Ala) c.1361T>C (p.Val454Ala) n.294T>C c.1364T>C (p.Val455Ala) c.1292T>C (p.Val431Ala) c.1256T>C (p.Val419Ala) c.1253T>C (p.Val418Ala) c.683T>C (p.Val228Ala) n.1772-2635A>G c.1208T>C (p.Val403Ala) c.716T>C (p.Val239Ala) | |
2 | g.27364789A>T | CA346197051 | EIF2B4,GTF3C2-AS2 | c.1301T>A (p.Val434Glu) c.*567T>A (n.*567T>A) c.1298T>A (p.Val433Glu) c.1361T>A (p.Val454Glu) n.294T>A c.1364T>A (p.Val455Glu) c.1292T>A (p.Val431Glu) c.1256T>A (p.Val419Glu) c.1253T>A (p.Val418Glu) c.683T>A (p.Val228Glu) n.1772-2635A>T c.1208T>A (p.Val403Glu) c.716T>A (p.Val239Glu) | |
2 | g.27364790C>A | CA346197053 | EIF2B4,GTF3C2-AS2 | c.1300G>T (p.Val434Leu) c.*566G>T (n.*566G>T) c.1297G>T (p.Val433Leu) c.1360G>T (p.Val454Leu) n.293G>T c.1363G>T (p.Val455Leu) c.1291G>T (p.Val431Leu) c.1255G>T (p.Val419Leu) c.1252G>T (p.Val418Leu) c.682G>T (p.Val228Leu) n.1772-2634C>A c.1207G>T (p.Val403Leu) c.715G>T (p.Val239Leu) | dbSNP |
2 | g.27364790C= | CA1240242927 | EIF2B4,GTF3C2-AS2 | c.1300G= (p.Val434=) c.*566G= (n.*566G=) c.1297G= (p.Val433=) c.1360G= (p.Val454=) n.293G= c.1363G= (p.Val455=) c.1291G= (p.Val431=) c.1255G= (p.Val419=) c.1252G= (p.Val418=) c.682G= (p.Val228=) n.1772-2634C= c.1207G= (p.Val403=) c.715G= (p.Val239=) | |
2 | g.27364790C>G | CA346197055 | EIF2B4,GTF3C2-AS2 | c.1300G>C (p.Val434Leu) c.*566G>C (n.*566G>C) c.1297G>C (p.Val433Leu) c.1360G>C (p.Val454Leu) n.293G>C c.1363G>C (p.Val455Leu) c.1291G>C (p.Val431Leu) c.1255G>C (p.Val419Leu) c.1252G>C (p.Val418Leu) c.682G>C (p.Val228Leu) n.1772-2634C>G c.1207G>C (p.Val403Leu) c.715G>C (p.Val239Leu) | gnomAD v4 |
2 | g.27364790C>T | CA346197056 | EIF2B4,GTF3C2-AS2 | c.1300G>A (p.Val434Met) c.*566G>A (n.*566G>A) c.1297G>A (p.Val433Met) c.1360G>A (p.Val454Met) n.293G>A c.1363G>A (p.Val455Met) c.1291G>A (p.Val431Met) c.1255G>A (p.Val419Met) c.1252G>A (p.Val418Met) c.682G>A (p.Val228Met) n.1772-2634C>T c.1207G>A (p.Val403Met) c.715G>A (p.Val239Met) | |
2 | g.27364791T>A | CA425410187 | EIF2B4,GTF3C2-AS2 | c.1299A>T (p.Pro433=) c.*565A>T (n.*565A>T) c.1296A>T (p.Pro432=) c.1359A>T (p.Pro453=) n.292A>T c.1362A>T (p.Pro454=) c.1290A>T (p.Pro430=) c.1254A>T (p.Pro418=) c.1251A>T (p.Pro417=) c.681A>T (p.Pro227=) n.1772-2633T>A c.1206A>T (p.Pro402=) c.714A>T (p.Pro238=) | |
2 | g.27364791T>C | CA425410191 | EIF2B4,GTF3C2-AS2 | c.1299A>G (p.Pro433=) c.*565A>G (n.*565A>G) c.1296A>G (p.Pro432=) c.1359A>G (p.Pro453=) n.292A>G c.1362A>G (p.Pro454=) c.1290A>G (p.Pro430=) c.1254A>G (p.Pro418=) c.1251A>G (p.Pro417=) c.681A>G (p.Pro227=) n.1772-2633T>C c.1206A>G (p.Pro402=) c.714A>G (p.Pro238=) | gnomAD v4 |
2 | g.27364791T>G | CA425410194 | EIF2B4,GTF3C2-AS2 | c.1299A>C (p.Pro433=) c.*565A>C (n.*565A>C) c.1296A>C (p.Pro432=) c.1359A>C (p.Pro453=) n.292A>C c.1362A>C (p.Pro454=) c.1290A>C (p.Pro430=) c.1254A>C (p.Pro418=) c.1251A>C (p.Pro417=) c.681A>C (p.Pro227=) n.1772-2633T>G c.1206A>C (p.Pro402=) c.714A>C (p.Pro238=) | |
2 | g.27364792G>A | CA346197057 | EIF2B4,GTF3C2-AS2 | c.1298C>T (p.Pro433Leu) c.*564C>T (n.*564C>T) c.1295C>T (p.Pro432Leu) c.1358C>T (p.Pro453Leu) n.291C>T c.1361C>T (p.Pro454Leu) c.1289C>T (p.Pro430Leu) c.1253C>T (p.Pro418Leu) c.1250C>T (p.Pro417Leu) c.680C>T (p.Pro227Leu) n.1772-2632G>A c.1205C>T (p.Pro402Leu) c.713C>T (p.Pro238Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.27364792G>C | CA346197061 | EIF2B4,GTF3C2-AS2 | c.1298C>G (p.Pro433Arg) c.*564C>G (n.*564C>G) c.1295C>G (p.Pro432Arg) c.1358C>G (p.Pro453Arg) n.291C>G c.1361C>G (p.Pro454Arg) c.1289C>G (p.Pro430Arg) c.1253C>G (p.Pro418Arg) c.1250C>G (p.Pro417Arg) c.680C>G (p.Pro227Arg) n.1772-2632G>C c.1205C>G (p.Pro402Arg) c.713C>G (p.Pro238Arg) | |
2 | g.27364792G= | CA1240242928 | EIF2B4,GTF3C2-AS2 | c.1298C= (p.Pro433=) c.*564C= (n.*564C=) c.1295C= (p.Pro432=) c.1358C= (p.Pro453=) n.291C= c.1361C= (p.Pro454=) c.1289C= (p.Pro430=) c.1253C= (p.Pro418=) c.1250C= (p.Pro417=) c.680C= (p.Pro227=) n.1772-2632G= c.1205C= (p.Pro402=) c.713C= (p.Pro238=) | |
2 | g.27364792G>T | CA346197059 | EIF2B4,GTF3C2-AS2 | c.1298C>A (p.Pro433Gln) c.*564C>A (n.*564C>A) c.1295C>A (p.Pro432Gln) c.1358C>A (p.Pro453Gln) n.291C>A c.1361C>A (p.Pro454Gln) c.1289C>A (p.Pro430Gln) c.1253C>A (p.Pro418Gln) c.1250C>A (p.Pro417Gln) c.680C>A (p.Pro227Gln) n.1772-2632G>T c.1205C>A (p.Pro402Gln) c.713C>A (p.Pro238Gln) | |
2 | g.27364793del | CA2658336178 | EIF2B4,GTF3C2-AS2 | c.1298del (p.Pro433GlnfsTer25) c.*564del (n.*564del) c.1295del (p.Pro432GlnfsTer25) c.1358del (p.Pro453GlnfsTer25) n.291del c.1361del (p.Pro454GlnfsTer25) c.1289del (p.Pro430GlnfsTer25) c.1253del (p.Pro418GlnfsTer25) c.1250del (p.Pro417GlnfsTer25) c.680del (p.Pro227GlnfsTer25) n.1772-2631del c.1205del (p.Pro402GlnfsTer25) c.713del (p.Pro238GlnfsTer25) | gnomAD v4 |
2 | g.27364793G>A | CA346197063 | EIF2B4,GTF3C2-AS2 | c.1297C>T (p.Pro433Ser) c.*563C>T (n.*563C>T) c.1294C>T (p.Pro432Ser) c.1357C>T (p.Pro453Ser) n.290C>T c.1360C>T (p.Pro454Ser) c.1288C>T (p.Pro430Ser) c.1252C>T (p.Pro418Ser) c.1249C>T (p.Pro417Ser) c.679C>T (p.Pro227Ser) n.1772-2631G>A c.1204C>T (p.Pro402Ser) c.712C>T (p.Pro238Ser) | |
2 | g.27364793G>C | CA346197064 | EIF2B4,GTF3C2-AS2 | c.1297C>G (p.Pro433Ala) c.*563C>G (n.*563C>G) c.1294C>G (p.Pro432Ala) c.1357C>G (p.Pro453Ala) n.290C>G c.1360C>G (p.Pro454Ala) c.1288C>G (p.Pro430Ala) c.1252C>G (p.Pro418Ala) c.1249C>G (p.Pro417Ala) c.679C>G (p.Pro227Ala) n.1772-2631G>C c.1204C>G (p.Pro402Ala) c.712C>G (p.Pro238Ala) | |
2 | g.27364793G>T | CA346197066 | EIF2B4,GTF3C2-AS2 | c.1297C>A (p.Pro433Thr) c.*563C>A (n.*563C>A) c.1294C>A (p.Pro432Thr) c.1357C>A (p.Pro453Thr) n.290C>A c.1360C>A (p.Pro454Thr) c.1288C>A (p.Pro430Thr) c.1252C>A (p.Pro418Thr) c.1249C>A (p.Pro417Thr) c.679C>A (p.Pro227Thr) n.1772-2631G>T c.1204C>A (p.Pro402Thr) c.712C>A (p.Pro238Thr) | |
2 | g.27364794T>A | CA425410206 | EIF2B4,GTF3C2-AS2 | c.1296A>T (p.Val432=) c.*562A>T (n.*562A>T) c.1293A>T (p.Val431=) c.1356A>T (p.Val452=) n.289A>T c.1359A>T (p.Val453=) c.1287A>T (p.Val429=) c.1251A>T (p.Val417=) c.1248A>T (p.Val416=) c.678A>T (p.Val226=) n.1772-2630T>A c.1203A>T (p.Val401=) c.711A>T (p.Val237=) | |
2 | g.27364794T>C | CA425410207 | EIF2B4,GTF3C2-AS2 | c.1296A>G (p.Val432=) c.*562A>G (n.*562A>G) c.1293A>G (p.Val431=) c.1356A>G (p.Val452=) n.289A>G c.1359A>G (p.Val453=) c.1287A>G (p.Val429=) c.1251A>G (p.Val417=) c.1248A>G (p.Val416=) c.678A>G (p.Val226=) n.1772-2630T>C c.1203A>G (p.Val401=) c.711A>G (p.Val237=) | gnomAD v4 |
2 | g.27364794T>G | CA425410210 | EIF2B4,GTF3C2-AS2 | c.1296A>C (p.Val432=) c.*562A>C (n.*562A>C) c.1293A>C (p.Val431=) c.1356A>C (p.Val452=) n.289A>C c.1359A>C (p.Val453=) c.1287A>C (p.Val429=) c.1251A>C (p.Val417=) c.1248A>C (p.Val416=) c.678A>C (p.Val226=) n.1772-2630T>G c.1203A>C (p.Val401=) c.711A>C (p.Val237=) | |
2 | g.27364795A= | CA1240242929 | EIF2B4,GTF3C2-AS2 | c.1295T= (p.Val432=) c.*561T= (n.*561T=) c.1292T= (p.Val431=) c.1355T= (p.Val452=) n.288T= c.1358T= (p.Val453=) c.1286T= (p.Val429=) c.1250T= (p.Val417=) c.1247T= (p.Val416=) c.677T= (p.Val226=) n.1772-2629A= c.1202T= (p.Val401=) c.710T= (p.Val237=) | |
2 | g.27364795A>C | CA346197068 | EIF2B4,GTF3C2-AS2 | c.1295T>G (p.Val432Gly) c.*561T>G (n.*561T>G) c.1292T>G (p.Val431Gly) c.1355T>G (p.Val452Gly) n.288T>G c.1358T>G (p.Val453Gly) c.1286T>G (p.Val429Gly) c.1250T>G (p.Val417Gly) c.1247T>G (p.Val416Gly) c.677T>G (p.Val226Gly) n.1772-2629A>C c.1202T>G (p.Val401Gly) c.710T>G (p.Val237Gly) | |
2 | g.27364795A>G | CA1576606 | EIF2B4,GTF3C2-AS2 | c.1295T>C (p.Val432Ala) c.*561T>C (n.*561T>C) c.1292T>C (p.Val431Ala) c.1355T>C (p.Val452Ala) n.288T>C c.1358T>C (p.Val453Ala) c.1286T>C (p.Val429Ala) c.1250T>C (p.Val417Ala) c.1247T>C (p.Val416Ala) c.677T>C (p.Val226Ala) n.1772-2629A>G c.1202T>C (p.Val401Ala) c.710T>C (p.Val237Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27364795A>T | CA346197070 | EIF2B4,GTF3C2-AS2 | c.1295T>A (p.Val432Glu) c.*561T>A (n.*561T>A) c.1292T>A (p.Val431Glu) c.1355T>A (p.Val452Glu) n.288T>A c.1358T>A (p.Val453Glu) c.1286T>A (p.Val429Glu) c.1250T>A (p.Val417Glu) c.1247T>A (p.Val416Glu) c.677T>A (p.Val226Glu) n.1772-2629A>T c.1202T>A (p.Val401Glu) c.710T>A (p.Val237Glu) | |
2 | g.27364796C>A | CA346197072 | EIF2B4,GTF3C2-AS2 | c.1294G>T (p.Val432Leu) c.*560G>T (n.*560G>T) c.1291G>T (p.Val431Leu) c.1354G>T (p.Val452Leu) n.287G>T c.1357G>T (p.Val453Leu) c.1285G>T (p.Val429Leu) c.1249G>T (p.Val417Leu) c.1246G>T (p.Val416Leu) c.676G>T (p.Val226Leu) n.1772-2628C>A c.1201G>T (p.Val401Leu) c.709G>T (p.Val237Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27364796C= | CA1240242930 | EIF2B4,GTF3C2-AS2 | c.1294G= (p.Val432=) c.*560G= (n.*560G=) c.1291G= (p.Val431=) c.1354G= (p.Val452=) n.287G= c.1357G= (p.Val453=) c.1285G= (p.Val429=) c.1249G= (p.Val417=) c.1246G= (p.Val416=) c.676G= (p.Val226=) n.1772-2628C= c.1201G= (p.Val401=) c.709G= (p.Val237=) | |
2 | g.27364796C>G | CA346197073 | EIF2B4,GTF3C2-AS2 | c.1294G>C (p.Val432Leu) c.*560G>C (n.*560G>C) c.1291G>C (p.Val431Leu) c.1354G>C (p.Val452Leu) n.287G>C c.1357G>C (p.Val453Leu) c.1285G>C (p.Val429Leu) c.1249G>C (p.Val417Leu) c.1246G>C (p.Val416Leu) c.676G>C (p.Val226Leu) n.1772-2628C>G c.1201G>C (p.Val401Leu) c.709G>C (p.Val237Leu) | |
2 | g.27364796C>T | CA346197075 | EIF2B4,GTF3C2-AS2 | c.1294G>A (p.Val432Ile) c.*560G>A (n.*560G>A) c.1291G>A (p.Val431Ile) c.1354G>A (p.Val452Ile) n.287G>A c.1357G>A (p.Val453Ile) c.1285G>A (p.Val429Ile) c.1249G>A (p.Val417Ile) c.1246G>A (p.Val416Ile) c.676G>A (p.Val226Ile) n.1772-2628C>T c.1201G>A (p.Val401Ile) c.709G>A (p.Val237Ile) | |
2 | g.27364797A= | CA1240242931 | EIF2B4,GTF3C2-AS2 | c.1293T= (p.Asn431=) c.*559T= (n.*559T=) c.1290T= (p.Asn430=) c.1353T= (p.Asn451=) n.286T= c.1356T= (p.Asn452=) c.1284T= (p.Asn428=) c.1248T= (p.Asn416=) c.1245T= (p.Asn415=) c.675T= (p.Asn225=) n.1772-2627A= c.1200T= (p.Asn400=) c.708T= (p.Asn236=) | |
2 | g.27364797A>C | CA346197078 | EIF2B4,GTF3C2-AS2 | c.1293T>G (p.Asn431Lys) c.*559T>G (n.*559T>G) c.1290T>G (p.Asn430Lys) c.1353T>G (p.Asn451Lys) n.286T>G c.1356T>G (p.Asn452Lys) c.1284T>G (p.Asn428Lys) c.1248T>G (p.Asn416Lys) c.1245T>G (p.Asn415Lys) c.675T>G (p.Asn225Lys) n.1772-2627A>C c.1200T>G (p.Asn400Lys) c.708T>G (p.Asn236Lys) | |
2 | g.27364797A>G | CA1576607 | EIF2B4,GTF3C2-AS2 | c.1293T>C (p.Asn431=) c.*559T>C (n.*559T>C) c.1290T>C (p.Asn430=) c.1353T>C (p.Asn451=) n.286T>C c.1356T>C (p.Asn452=) c.1284T>C (p.Asn428=) c.1248T>C (p.Asn416=) c.1245T>C (p.Asn415=) c.675T>C (p.Asn225=) n.1772-2627A>G c.1200T>C (p.Asn400=) c.708T>C (p.Asn236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364797A>T | CA346197076 | EIF2B4,GTF3C2-AS2 | c.1293T>A (p.Asn431Lys) c.*559T>A (n.*559T>A) c.1290T>A (p.Asn430Lys) c.1353T>A (p.Asn451Lys) n.286T>A c.1356T>A (p.Asn452Lys) c.1284T>A (p.Asn428Lys) c.1248T>A (p.Asn416Lys) c.1245T>A (p.Asn415Lys) c.675T>A (p.Asn225Lys) n.1772-2627A>T c.1200T>A (p.Asn400Lys) c.708T>A (p.Asn236Lys) |