Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
2 | g.27364798T>A | CA346197080 | EIF2B4,GTF3C2-AS2 | c.1292A>T (p.Asn431Ile) c.*558A>T (n.*558A>T) c.1289A>T (p.Asn430Ile) c.1352A>T (p.Asn451Ile) n.285A>T c.1355A>T (p.Asn452Ile) c.1283A>T (p.Asn428Ile) c.1247A>T (p.Asn416Ile) c.1244A>T (p.Asn415Ile) c.674A>T (p.Asn225Ile) n.1772-2626T>A c.1199A>T (p.Asn400Ile) c.707A>T (p.Asn236Ile) | |
2 | g.27364798T>C | CA346197081 | EIF2B4,GTF3C2-AS2 | c.1292A>G (p.Asn431Ser) c.*558A>G (n.*558A>G) c.1289A>G (p.Asn430Ser) c.1352A>G (p.Asn451Ser) n.285A>G c.1355A>G (p.Asn452Ser) c.1283A>G (p.Asn428Ser) c.1247A>G (p.Asn416Ser) c.1244A>G (p.Asn415Ser) c.674A>G (p.Asn225Ser) n.1772-2626T>C c.1199A>G (p.Asn400Ser) c.707A>G (p.Asn236Ser) | |
2 | g.27364798T>G | CA346197083 | EIF2B4,GTF3C2-AS2 | c.1292A>C (p.Asn431Thr) c.*558A>C (n.*558A>C) c.1289A>C (p.Asn430Thr) c.1352A>C (p.Asn451Thr) n.285A>C c.1355A>C (p.Asn452Thr) c.1283A>C (p.Asn428Thr) c.1247A>C (p.Asn416Thr) c.1244A>C (p.Asn415Thr) c.674A>C (p.Asn225Thr) n.1772-2626T>G c.1199A>C (p.Asn400Thr) c.707A>C (p.Asn236Thr) | |
2 | g.27364799T>A | CA346197084 | EIF2B4,GTF3C2-AS2 | c.1291A>T (p.Asn431Tyr) c.*557A>T (n.*557A>T) c.1288A>T (p.Asn430Tyr) c.1351A>T (p.Asn451Tyr) n.284A>T c.1354A>T (p.Asn452Tyr) c.1282A>T (p.Asn428Tyr) c.1246A>T (p.Asn416Tyr) c.1243A>T (p.Asn415Tyr) c.673A>T (p.Asn225Tyr) n.1772-2625T>A c.1198A>T (p.Asn400Tyr) c.706A>T (p.Asn236Tyr) | |
2 | g.27364799T>C | CA346197086 | EIF2B4,GTF3C2-AS2 | c.1291A>G (p.Asn431Asp) c.*557A>G (n.*557A>G) c.1288A>G (p.Asn430Asp) c.1351A>G (p.Asn451Asp) n.284A>G c.1354A>G (p.Asn452Asp) c.1282A>G (p.Asn428Asp) c.1246A>G (p.Asn416Asp) c.1243A>G (p.Asn415Asp) c.673A>G (p.Asn225Asp) n.1772-2625T>C c.1198A>G (p.Asn400Asp) c.706A>G (p.Asn236Asp) | ClinVar gnomAD v4 |
2 | g.27364799T>G | CA346197088 | EIF2B4,GTF3C2-AS2 | c.1291A>C (p.Asn431His) c.*557A>C (n.*557A>C) c.1288A>C (p.Asn430His) c.1351A>C (p.Asn451His) n.284A>C c.1354A>C (p.Asn452His) c.1282A>C (p.Asn428His) c.1246A>C (p.Asn416His) c.1243A>C (p.Asn415His) c.673A>C (p.Asn225His) n.1772-2625T>G c.1198A>C (p.Asn400His) c.706A>C (p.Asn236His) | |
2 | g.27364800A= | CA1240242932 | EIF2B4,GTF3C2-AS2 | c.1290T= (p.His430=) c.*556T= (n.*556T=) c.1287T= (p.His429=) c.1350T= (p.His450=) n.283T= c.1353T= (p.His451=) c.1281T= (p.His427=) c.1245T= (p.His415=) c.1242T= (p.His414=) c.672T= (p.His224=) n.1772-2624A= c.1197T= (p.His399=) c.705T= (p.His235=) | |
2 | g.27364800A>C | CA346197089 | EIF2B4,GTF3C2-AS2 | c.1290T>G (p.His430Gln) c.*556T>G (n.*556T>G) c.1287T>G (p.His429Gln) c.1350T>G (p.His450Gln) n.283T>G c.1353T>G (p.His451Gln) c.1281T>G (p.His427Gln) c.1245T>G (p.His415Gln) c.1242T>G (p.His414Gln) c.672T>G (p.His224Gln) n.1772-2624A>C c.1197T>G (p.His399Gln) c.705T>G (p.His235Gln) | |
2 | g.27364800A>G | CA1576608 | EIF2B4,GTF3C2-AS2 | c.1290T>C (p.His430=) c.*556T>C (n.*556T>C) c.1287T>C (p.His429=) c.1350T>C (p.His450=) n.283T>C c.1353T>C (p.His451=) c.1281T>C (p.His427=) c.1245T>C (p.His415=) c.1242T>C (p.His414=) c.672T>C (p.His224=) n.1772-2624A>G c.1197T>C (p.His399=) c.705T>C (p.His235=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27364800A>T | CA346197091 | EIF2B4,GTF3C2-AS2 | c.1290T>A (p.His430Gln) c.*556T>A (n.*556T>A) c.1287T>A (p.His429Gln) c.1350T>A (p.His450Gln) n.283T>A c.1353T>A (p.His451Gln) c.1281T>A (p.His427Gln) c.1245T>A (p.His415Gln) c.1242T>A (p.His414Gln) c.672T>A (p.His224Gln) n.1772-2624A>T c.1197T>A (p.His399Gln) c.705T>A (p.His235Gln) | |
2 | g.27364801T>A | CA346197092 | EIF2B4,GTF3C2-AS2 | c.1289A>T (p.His430Leu) c.*555A>T (n.*555A>T) c.1286A>T (p.His429Leu) c.1349A>T (p.His450Leu) n.282A>T c.1352A>T (p.His451Leu) c.1280A>T (p.His427Leu) c.1244A>T (p.His415Leu) c.1241A>T (p.His414Leu) c.671A>T (p.His224Leu) n.1772-2623T>A c.1196A>T (p.His399Leu) c.704A>T (p.His235Leu) | |
2 | g.27364801T>C | CA346197093 | EIF2B4,GTF3C2-AS2 | c.1289A>G (p.His430Arg) c.*555A>G (n.*555A>G) c.1286A>G (p.His429Arg) c.1349A>G (p.His450Arg) n.282A>G c.1352A>G (p.His451Arg) c.1280A>G (p.His427Arg) c.1244A>G (p.His415Arg) c.1241A>G (p.His414Arg) c.671A>G (p.His224Arg) n.1772-2623T>C c.1196A>G (p.His399Arg) c.704A>G (p.His235Arg) | |
2 | g.27364801T>G | CA346197095 | EIF2B4,GTF3C2-AS2 | c.1289A>C (p.His430Pro) c.*555A>C (n.*555A>C) c.1286A>C (p.His429Pro) c.1349A>C (p.His450Pro) n.282A>C c.1352A>C (p.His451Pro) c.1280A>C (p.His427Pro) c.1244A>C (p.His415Pro) c.1241A>C (p.His414Pro) c.671A>C (p.His224Pro) n.1772-2623T>G c.1196A>C (p.His399Pro) c.704A>C (p.His235Pro) | |
2 | g.27364802G>A | CA346197100 | EIF2B4,GTF3C2-AS2 | c.1288C>T (p.His430Tyr) c.*554C>T (n.*554C>T) c.1285C>T (p.His429Tyr) c.1348C>T (p.His450Tyr) n.281C>T c.1351C>T (p.His451Tyr) c.1279C>T (p.His427Tyr) c.1243C>T (p.His415Tyr) c.1240C>T (p.His414Tyr) c.670C>T (p.His224Tyr) n.1772-2622G>A c.1195C>T (p.His399Tyr) c.703C>T (p.His235Tyr) | gnomAD v4 |
2 | g.27364802G>C | CA346197097 | EIF2B4,GTF3C2-AS2 | c.1288C>G (p.His430Asp) c.*554C>G (n.*554C>G) c.1285C>G (p.His429Asp) c.1348C>G (p.His450Asp) n.281C>G c.1351C>G (p.His451Asp) c.1279C>G (p.His427Asp) c.1243C>G (p.His415Asp) c.1240C>G (p.His414Asp) c.670C>G (p.His224Asp) n.1772-2622G>C c.1195C>G (p.His399Asp) c.703C>G (p.His235Asp) | |
2 | g.27364802G>T | CA346197099 | EIF2B4,GTF3C2-AS2 | c.1288C>A (p.His430Asn) c.*554C>A (n.*554C>A) c.1285C>A (p.His429Asn) c.1348C>A (p.His450Asn) n.281C>A c.1351C>A (p.His451Asn) c.1279C>A (p.His427Asn) c.1243C>A (p.His415Asn) c.1240C>A (p.His414Asn) c.670C>A (p.His224Asn) n.1772-2622G>T c.1195C>A (p.His399Asn) c.703C>A (p.His235Asn) | |
2 | g.27364803G>A | CA425410230 | EIF2B4,GTF3C2-AS2 | c.1287C>T (p.Ala429=) c.*553C>T (n.*553C>T) c.1284C>T (p.Ala428=) c.1347C>T (p.Ala449=) n.280C>T c.1350C>T (p.Ala450=) c.1278C>T (p.Ala426=) c.1242C>T (p.Ala414=) c.1239C>T (p.Ala413=) c.669C>T (p.Ala223=) n.1772-2621G>A c.1194C>T (p.Ala398=) c.702C>T (p.Ala234=) | gnomAD v4 |
2 | g.27364803G>C | CA425410232 | EIF2B4,GTF3C2-AS2 | c.1287C>G (p.Ala429=) c.*553C>G (n.*553C>G) c.1284C>G (p.Ala428=) c.1347C>G (p.Ala449=) n.280C>G c.1350C>G (p.Ala450=) c.1278C>G (p.Ala426=) c.1242C>G (p.Ala414=) c.1239C>G (p.Ala413=) c.669C>G (p.Ala223=) n.1772-2621G>C c.1194C>G (p.Ala398=) c.702C>G (p.Ala234=) | |
2 | g.27364803G>T | CA425410237 | EIF2B4,GTF3C2-AS2 | c.1287C>A (p.Ala429=) c.*553C>A (n.*553C>A) c.1284C>A (p.Ala428=) c.1347C>A (p.Ala449=) n.280C>A c.1350C>A (p.Ala450=) c.1278C>A (p.Ala426=) c.1242C>A (p.Ala414=) c.1239C>A (p.Ala413=) c.669C>A (p.Ala223=) n.1772-2621G>T c.1194C>A (p.Ala398=) c.702C>A (p.Ala234=) | |
2 | g.27364804G>A | CA346197101 | EIF2B4,GTF3C2-AS2 | c.1286C>T (p.Ala429Val) c.*552C>T (n.*552C>T) c.1283C>T (p.Ala428Val) c.1346C>T (p.Ala449Val) n.279C>T c.1349C>T (p.Ala450Val) c.1277C>T (p.Ala426Val) c.1241C>T (p.Ala414Val) c.1238C>T (p.Ala413Val) c.668C>T (p.Ala223Val) n.1772-2620G>A c.1193C>T (p.Ala398Val) c.701C>T (p.Ala234Val) | |
2 | g.27364804G>C | CA346197103 | EIF2B4,GTF3C2-AS2 | c.1286C>G (p.Ala429Gly) c.*552C>G (n.*552C>G) c.1283C>G (p.Ala428Gly) c.1346C>G (p.Ala449Gly) n.279C>G c.1349C>G (p.Ala450Gly) c.1277C>G (p.Ala426Gly) c.1241C>G (p.Ala414Gly) c.1238C>G (p.Ala413Gly) c.668C>G (p.Ala223Gly) n.1772-2620G>C c.1193C>G (p.Ala398Gly) c.701C>G (p.Ala234Gly) | |
2 | g.27364804G>T | CA346197104 | EIF2B4,GTF3C2-AS2 | c.1286C>A (p.Ala429Asp) c.*552C>A (n.*552C>A) c.1283C>A (p.Ala428Asp) c.1346C>A (p.Ala449Asp) n.279C>A c.1349C>A (p.Ala450Asp) c.1277C>A (p.Ala426Asp) c.1241C>A (p.Ala414Asp) c.1238C>A (p.Ala413Asp) c.668C>A (p.Ala223Asp) n.1772-2620G>T c.1193C>A (p.Ala398Asp) c.701C>A (p.Ala234Asp) | |
2 | g.27364805C>A | CA346197106 | EIF2B4,GTF3C2-AS2 | c.1285G>T (p.Ala429Ser) c.*551G>T (n.*551G>T) c.1282G>T (p.Ala428Ser) c.1345G>T (p.Ala449Ser) n.278G>T c.1348G>T (p.Ala450Ser) c.1276G>T (p.Ala426Ser) c.1240G>T (p.Ala414Ser) c.1237G>T (p.Ala413Ser) c.667G>T (p.Ala223Ser) n.1772-2619C>A c.1192G>T (p.Ala398Ser) c.700G>T (p.Ala234Ser) | |
2 | g.27364805C= | CA1240242933 | EIF2B4,GTF3C2-AS2 | c.1285G= (p.Ala429=) c.*551G= (n.*551G=) c.1282G= (p.Ala428=) c.1345G= (p.Ala449=) n.278G= c.1348G= (p.Ala450=) c.1276G= (p.Ala426=) c.1240G= (p.Ala414=) c.1237G= (p.Ala413=) c.667G= (p.Ala223=) n.1772-2619C= c.1192G= (p.Ala398=) c.700G= (p.Ala234=) | |
2 | g.27364805C>G | CA346197108 | EIF2B4,GTF3C2-AS2 | c.1285G>C (p.Ala429Pro) c.*551G>C (n.*551G>C) c.1282G>C (p.Ala428Pro) c.1345G>C (p.Ala449Pro) n.278G>C c.1348G>C (p.Ala450Pro) c.1276G>C (p.Ala426Pro) c.1240G>C (p.Ala414Pro) c.1237G>C (p.Ala413Pro) c.667G>C (p.Ala223Pro) n.1772-2619C>G c.1192G>C (p.Ala398Pro) c.700G>C (p.Ala234Pro) | |
2 | g.27364805C>T | CA346197109 | EIF2B4,GTF3C2-AS2 | c.1285G>A (p.Ala429Thr) c.*551G>A (n.*551G>A) c.1282G>A (p.Ala428Thr) c.1345G>A (p.Ala449Thr) n.278G>A c.1348G>A (p.Ala450Thr) c.1276G>A (p.Ala426Thr) c.1240G>A (p.Ala414Thr) c.1237G>A (p.Ala413Thr) c.667G>A (p.Ala223Thr) n.1772-2619C>T c.1192G>A (p.Ala398Thr) c.700G>A (p.Ala234Thr) | dbSNP |
2 | g.27364806T>A | CA425410243 | EIF2B4,GTF3C2-AS2 | c.1284A>T (p.Arg428=) c.*550A>T (n.*550A>T) c.1281A>T (p.Arg427=) c.1344A>T (p.Arg448=) n.277A>T c.1347A>T (p.Arg449=) c.1275A>T (p.Arg425=) c.1239A>T (p.Arg413=) c.1236A>T (p.Arg412=) c.666A>T (p.Arg222=) n.1772-2618T>A c.1191A>T (p.Arg397=) c.699A>T (p.Arg233=) | |
2 | g.27364806T>C | CA425410249 | EIF2B4,GTF3C2-AS2 | c.1284A>G (p.Arg428=) c.*550A>G (n.*550A>G) c.1281A>G (p.Arg427=) c.1344A>G (p.Arg448=) n.277A>G c.1347A>G (p.Arg449=) c.1275A>G (p.Arg425=) c.1239A>G (p.Arg413=) c.1236A>G (p.Arg412=) c.666A>G (p.Arg222=) n.1772-2618T>C c.1191A>G (p.Arg397=) c.699A>G (p.Arg233=) | |
2 | g.27364806T>G | CA425410251 | EIF2B4,GTF3C2-AS2 | c.1284A>C (p.Arg428=) c.*550A>C (n.*550A>C) c.1281A>C (p.Arg427=) c.1344A>C (p.Arg448=) n.277A>C c.1347A>C (p.Arg449=) c.1275A>C (p.Arg425=) c.1239A>C (p.Arg413=) c.1236A>C (p.Arg412=) c.666A>C (p.Arg222=) n.1772-2618T>G c.1191A>C (p.Arg397=) c.699A>C (p.Arg233=) | |
2 | g.27364807C>A | CA346197110 | EIF2B4,GTF3C2-AS2 | c.1283G>T (p.Arg428Leu) c.*549G>T (n.*549G>T) c.1280G>T (p.Arg427Leu) c.1343G>T (p.Arg448Leu) n.276G>T c.1346G>T (p.Arg449Leu) c.1274G>T (p.Arg425Leu) c.1238G>T (p.Arg413Leu) c.1235G>T (p.Arg412Leu) c.665G>T (p.Arg222Leu) n.1772-2617C>A c.1190G>T (p.Arg397Leu) c.698G>T (p.Arg233Leu) | |
2 | g.27364807C= | CA1240242934 | EIF2B4,GTF3C2-AS2 | c.1283G= (p.Arg428=) c.*549G= (n.*549G=) c.1280G= (p.Arg427=) c.1343G= (p.Arg448=) n.276G= c.1346G= (p.Arg449=) c.1274G= (p.Arg425=) c.1238G= (p.Arg413=) c.1235G= (p.Arg412=) c.665G= (p.Arg222=) n.1772-2617C= c.1190G= (p.Arg397=) c.698G= (p.Arg233=) | |
2 | g.27364807C>G | CA346197112 | EIF2B4,GTF3C2-AS2 | c.1283G>C (p.Arg428Pro) c.*549G>C (n.*549G>C) c.1280G>C (p.Arg427Pro) c.1343G>C (p.Arg448Pro) n.276G>C c.1346G>C (p.Arg449Pro) c.1274G>C (p.Arg425Pro) c.1238G>C (p.Arg413Pro) c.1235G>C (p.Arg412Pro) c.665G>C (p.Arg222Pro) n.1772-2617C>G c.1190G>C (p.Arg397Pro) c.698G>C (p.Arg233Pro) | |
2 | g.27364807C>T | CA1576609 | EIF2B4,GTF3C2-AS2 | c.1283G>A (p.Arg428Gln) c.*549G>A (n.*549G>A) c.1280G>A (p.Arg427Gln) c.1343G>A (p.Arg448Gln) n.276G>A c.1346G>A (p.Arg449Gln) c.1274G>A (p.Arg425Gln) c.1238G>A (p.Arg413Gln) c.1235G>A (p.Arg412Gln) c.665G>A (p.Arg222Gln) n.1772-2617C>T c.1190G>A (p.Arg397Gln) c.698G>A (p.Arg233Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364808G>A | CA346197114 | EIF2B4,GTF3C2-AS2 | c.1282C>T (p.Arg428Ter) c.*548C>T (n.*548C>T) c.1279C>T (p.Arg427Ter) c.1342C>T (p.Arg448Ter) n.275C>T c.1345C>T (p.Arg449Ter) c.1273C>T (p.Arg425Ter) c.1237C>T (p.Arg413Ter) c.1234C>T (p.Arg412Ter) c.664C>T (p.Arg222Ter) n.1772-2616G>A c.1189C>T (p.Arg397Ter) c.697C>T (p.Arg233Ter) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.27364808G>C | CA346197116 | EIF2B4,GTF3C2-AS2 | c.1282C>G (p.Arg428Gly) c.*548C>G (n.*548C>G) c.1279C>G (p.Arg427Gly) c.1342C>G (p.Arg448Gly) n.275C>G c.1345C>G (p.Arg449Gly) c.1273C>G (p.Arg425Gly) c.1237C>G (p.Arg413Gly) c.1234C>G (p.Arg412Gly) c.664C>G (p.Arg222Gly) n.1772-2616G>C c.1189C>G (p.Arg397Gly) c.697C>G (p.Arg233Gly) | |
2 | g.27364808G= | CA1240242935 | EIF2B4,GTF3C2-AS2 | c.1282C= (p.Arg428=) c.*548C= (n.*548C=) c.1279C= (p.Arg427=) c.1342C= (p.Arg448=) n.275C= c.1345C= (p.Arg449=) c.1273C= (p.Arg425=) c.1237C= (p.Arg413=) c.1234C= (p.Arg412=) c.664C= (p.Arg222=) n.1772-2616G= c.1189C= (p.Arg397=) c.697C= (p.Arg233=) | |
2 | g.27364808G>T | CA425410252 | EIF2B4,GTF3C2-AS2 | c.1282C>A (p.Arg428=) c.*548C>A (n.*548C>A) c.1279C>A (p.Arg427=) c.1342C>A (p.Arg448=) n.275C>A c.1345C>A (p.Arg449=) c.1273C>A (p.Arg425=) c.1237C>A (p.Arg413=) c.1234C>A (p.Arg412=) c.664C>A (p.Arg222=) n.1772-2616G>T c.1189C>A (p.Arg397=) c.697C>A (p.Arg233=) | |
2 | g.27364809A>C | CA425410255 | EIF2B4,GTF3C2-AS2 | c.1281T>G (p.Ala427=) c.*547T>G (n.*547T>G) c.1278T>G (p.Ala426=) c.1341T>G (p.Ala447=) n.274T>G c.1344T>G (p.Ala448=) c.1272T>G (p.Ala424=) c.1236T>G (p.Ala412=) c.1233T>G (p.Ala411=) c.663T>G (p.Ala221=) n.1772-2615A>C c.1188T>G (p.Ala396=) c.696T>G (p.Ala232=) | |
2 | g.27364809A>G | CA425410259 | EIF2B4,GTF3C2-AS2 | c.1281T>C (p.Ala427=) c.*547T>C (n.*547T>C) c.1278T>C (p.Ala426=) c.1341T>C (p.Ala447=) n.274T>C c.1344T>C (p.Ala448=) c.1272T>C (p.Ala424=) c.1236T>C (p.Ala412=) c.1233T>C (p.Ala411=) c.663T>C (p.Ala221=) n.1772-2615A>G c.1188T>C (p.Ala396=) c.696T>C (p.Ala232=) | |
2 | g.27364809A>T | CA425410260 | EIF2B4,GTF3C2-AS2 | c.1281T>A (p.Ala427=) c.*547T>A (n.*547T>A) c.1278T>A (p.Ala426=) c.1341T>A (p.Ala447=) n.274T>A c.1344T>A (p.Ala448=) c.1272T>A (p.Ala424=) c.1236T>A (p.Ala412=) c.1233T>A (p.Ala411=) c.663T>A (p.Ala221=) n.1772-2615A>T c.1188T>A (p.Ala396=) c.696T>A (p.Ala232=) | |
2 | g.27364810G>A | CA346197119 | EIF2B4,GTF3C2-AS2 | c.1280C>T (p.Ala427Val) c.*546C>T (n.*546C>T) c.1277C>T (p.Ala426Val) c.1340C>T (p.Ala447Val) n.273C>T c.1343C>T (p.Ala448Val) c.1271C>T (p.Ala424Val) c.1235C>T (p.Ala412Val) c.1232C>T (p.Ala411Val) c.662C>T (p.Ala221Val) n.1772-2614G>A c.1187C>T (p.Ala396Val) c.695C>T (p.Ala232Val) | |
2 | g.27364810G>C | CA346197120 | EIF2B4,GTF3C2-AS2 | c.1280C>G (p.Ala427Gly) c.*546C>G (n.*546C>G) c.1277C>G (p.Ala426Gly) c.1340C>G (p.Ala447Gly) n.273C>G c.1343C>G (p.Ala448Gly) c.1271C>G (p.Ala424Gly) c.1235C>G (p.Ala412Gly) c.1232C>G (p.Ala411Gly) c.662C>G (p.Ala221Gly) n.1772-2614G>C c.1187C>G (p.Ala396Gly) c.695C>G (p.Ala232Gly) | |
2 | g.27364810G>T | CA346197117 | EIF2B4,GTF3C2-AS2 | c.1280C>A (p.Ala427Asp) c.*546C>A (n.*546C>A) c.1277C>A (p.Ala426Asp) c.1340C>A (p.Ala447Asp) n.273C>A c.1343C>A (p.Ala448Asp) c.1271C>A (p.Ala424Asp) c.1235C>A (p.Ala412Asp) c.1232C>A (p.Ala411Asp) c.662C>A (p.Ala221Asp) n.1772-2614G>T c.1187C>A (p.Ala396Asp) c.695C>A (p.Ala232Asp) | |
2 | g.27364811C>A | CA346197125 | EIF2B4,GTF3C2-AS2 | c.1279G>T (p.Ala427Ser) c.*545G>T (n.*545G>T) c.1276G>T (p.Ala426Ser) c.1339G>T (p.Ala447Ser) n.272G>T c.1342G>T (p.Ala448Ser) c.1270G>T (p.Ala424Ser) c.1234G>T (p.Ala412Ser) c.1231G>T (p.Ala411Ser) c.661G>T (p.Ala221Ser) n.1772-2613C>A c.1186G>T (p.Ala396Ser) c.694G>T (p.Ala232Ser) | |
2 | g.27364811C>G | CA346197122 | EIF2B4,GTF3C2-AS2 | c.1279G>C (p.Ala427Pro) c.*545G>C (n.*545G>C) c.1276G>C (p.Ala426Pro) c.1339G>C (p.Ala447Pro) n.272G>C c.1342G>C (p.Ala448Pro) c.1270G>C (p.Ala424Pro) c.1234G>C (p.Ala412Pro) c.1231G>C (p.Ala411Pro) c.661G>C (p.Ala221Pro) n.1772-2613C>G c.1186G>C (p.Ala396Pro) c.694G>C (p.Ala232Pro) | |
2 | g.27364811C>T | CA346197124 | EIF2B4,GTF3C2-AS2 | c.1279G>A (p.Ala427Thr) c.*545G>A (n.*545G>A) c.1276G>A (p.Ala426Thr) c.1339G>A (p.Ala447Thr) n.272G>A c.1342G>A (p.Ala448Thr) c.1270G>A (p.Ala424Thr) c.1234G>A (p.Ala412Thr) c.1231G>A (p.Ala411Thr) c.661G>A (p.Ala221Thr) n.1772-2613C>T c.1186G>A (p.Ala396Thr) c.694G>A (p.Ala232Thr) | gnomAD v4 |
2 | g.27364812C>A | CA425410263 | EIF2B4,GTF3C2-AS2 | c.1278G>T (p.Val426=) c.*544G>T (n.*544G>T) c.1275G>T (p.Val425=) c.1338G>T (p.Val446=) n.271G>T c.1341G>T (p.Val447=) c.1269G>T (p.Val423=) c.1233G>T (p.Val411=) c.1230G>T (p.Val410=) c.660G>T (p.Val220=) n.1772-2612C>A c.1185G>T (p.Val395=) c.693G>T (p.Val231=) | |
2 | g.27364812C>G | CA425410264 | EIF2B4,GTF3C2-AS2 | c.1278G>C (p.Val426=) c.*544G>C (n.*544G>C) c.1275G>C (p.Val425=) c.1338G>C (p.Val446=) n.271G>C c.1341G>C (p.Val447=) c.1269G>C (p.Val423=) c.1233G>C (p.Val411=) c.1230G>C (p.Val410=) c.660G>C (p.Val220=) n.1772-2612C>G c.1185G>C (p.Val395=) c.693G>C (p.Val231=) | |
2 | g.27364812C>T | CA425410265 | EIF2B4,GTF3C2-AS2 | c.1278G>A (p.Val426=) c.*544G>A (n.*544G>A) c.1275G>A (p.Val425=) c.1338G>A (p.Val446=) n.271G>A c.1341G>A (p.Val447=) c.1269G>A (p.Val423=) c.1233G>A (p.Val411=) c.1230G>A (p.Val410=) c.660G>A (p.Val220=) n.1772-2612C>T c.1185G>A (p.Val395=) c.693G>A (p.Val231=) | |
2 | g.27364813A= | CA1240242936 | EIF2B4,GTF3C2-AS2 | c.1277T= (p.Val426=) c.*543T= (n.*543T=) c.1274T= (p.Val425=) c.1337T= (p.Val446=) n.270T= c.1340T= (p.Val447=) c.1268T= (p.Val423=) c.1232T= (p.Val411=) c.1229T= (p.Val410=) c.659T= (p.Val220=) n.1772-2611A= c.1184T= (p.Val395=) c.692T= (p.Val231=) | |
2 | g.27364813A>C | CA346197126 | EIF2B4,GTF3C2-AS2 | c.1277T>G (p.Val426Gly) c.*543T>G (n.*543T>G) c.1274T>G (p.Val425Gly) c.1337T>G (p.Val446Gly) n.270T>G c.1340T>G (p.Val447Gly) c.1268T>G (p.Val423Gly) c.1232T>G (p.Val411Gly) c.1229T>G (p.Val410Gly) c.659T>G (p.Val220Gly) n.1772-2611A>C c.1184T>G (p.Val395Gly) c.692T>G (p.Val231Gly) | dbSNP |
2 | g.27364813A>G | CA1576610 | EIF2B4,GTF3C2-AS2 | c.1277T>C (p.Val426Ala) c.*543T>C (n.*543T>C) c.1274T>C (p.Val425Ala) c.1337T>C (p.Val446Ala) n.270T>C c.1340T>C (p.Val447Ala) c.1268T>C (p.Val423Ala) c.1232T>C (p.Val411Ala) c.1229T>C (p.Val410Ala) c.659T>C (p.Val220Ala) n.1772-2611A>G c.1184T>C (p.Val395Ala) c.692T>C (p.Val231Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364813A>T | CA346197128 | EIF2B4,GTF3C2-AS2 | c.1277T>A (p.Val426Glu) c.*543T>A (n.*543T>A) c.1274T>A (p.Val425Glu) c.1337T>A (p.Val446Glu) n.270T>A c.1340T>A (p.Val447Glu) c.1268T>A (p.Val423Glu) c.1232T>A (p.Val411Glu) c.1229T>A (p.Val410Glu) c.659T>A (p.Val220Glu) n.1772-2611A>T c.1184T>A (p.Val395Glu) c.692T>A (p.Val231Glu) | |
2 | g.27364814C>A | CA346197130 | EIF2B4,GTF3C2-AS2 | c.1276G>T (p.Val426Leu) c.*542G>T (n.*542G>T) c.1273G>T (p.Val425Leu) c.1336G>T (p.Val446Leu) n.269G>T c.1339G>T (p.Val447Leu) c.1267G>T (p.Val423Leu) c.1231G>T (p.Val411Leu) c.1228G>T (p.Val410Leu) c.658G>T (p.Val220Leu) n.1772-2610C>A c.1183G>T (p.Val395Leu) c.691G>T (p.Val231Leu) | |
2 | g.27364814C>G | CA346197132 | EIF2B4,GTF3C2-AS2 | c.1276G>C (p.Val426Leu) c.*542G>C (n.*542G>C) c.1273G>C (p.Val425Leu) c.1336G>C (p.Val446Leu) n.269G>C c.1339G>C (p.Val447Leu) c.1267G>C (p.Val423Leu) c.1231G>C (p.Val411Leu) c.1228G>C (p.Val410Leu) c.658G>C (p.Val220Leu) n.1772-2610C>G c.1183G>C (p.Val395Leu) c.691G>C (p.Val231Leu) | |
2 | g.27364814C>T | CA346197133 | EIF2B4,GTF3C2-AS2 | c.1276G>A (p.Val426Met) c.*542G>A (n.*542G>A) c.1273G>A (p.Val425Met) c.1336G>A (p.Val446Met) n.269G>A c.1339G>A (p.Val447Met) c.1267G>A (p.Val423Met) c.1231G>A (p.Val411Met) c.1228G>A (p.Val410Met) c.658G>A (p.Val220Met) n.1772-2610C>T c.1183G>A (p.Val395Met) c.691G>A (p.Val231Met) | |
2 | g.27364815C>A | CA425410268 | EIF2B4,GTF3C2-AS2 | c.1275G>T (p.Leu425=) c.*541G>T (n.*541G>T) c.1272G>T (p.Leu424=) c.1335G>T (p.Leu445=) n.268G>T c.1338G>T (p.Leu446=) c.1266G>T (p.Leu422=) c.1230G>T (p.Leu410=) c.1227G>T (p.Leu409=) c.657G>T (p.Leu219=) n.1772-2609C>A c.1182G>T (p.Leu394=) c.690G>T (p.Leu230=) | |
2 | g.27364815C= | CA1240242937 | EIF2B4,GTF3C2-AS2 | c.1275G= (p.Leu425=) c.*541G= (n.*541G=) c.1272G= (p.Leu424=) c.1335G= (p.Leu445=) n.268G= c.1338G= (p.Leu446=) c.1266G= (p.Leu422=) c.1230G= (p.Leu410=) c.1227G= (p.Leu409=) c.657G= (p.Leu219=) n.1772-2609C= c.1182G= (p.Leu394=) c.690G= (p.Leu230=) | |
2 | g.27364815C>G | CA425410269 | EIF2B4,GTF3C2-AS2 | c.1275G>C (p.Leu425=) c.*541G>C (n.*541G>C) c.1272G>C (p.Leu424=) c.1335G>C (p.Leu445=) n.268G>C c.1338G>C (p.Leu446=) c.1266G>C (p.Leu422=) c.1230G>C (p.Leu410=) c.1227G>C (p.Leu409=) c.657G>C (p.Leu219=) n.1772-2609C>G c.1182G>C (p.Leu394=) c.690G>C (p.Leu230=) | |
2 | g.27364815C>T | CA1576611 | EIF2B4,GTF3C2-AS2 | c.1275G>A (p.Leu425=) c.*541G>A (n.*541G>A) c.1272G>A (p.Leu424=) c.1335G>A (p.Leu445=) n.268G>A c.1338G>A (p.Leu446=) c.1266G>A (p.Leu422=) c.1230G>A (p.Leu410=) c.1227G>A (p.Leu409=) c.657G>A (p.Leu219=) n.1772-2609C>T c.1182G>A (p.Leu394=) c.690G>A (p.Leu230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364816A>C | CA346197136 | EIF2B4,GTF3C2-AS2 | c.1274T>G (p.Leu425Arg) c.*540T>G (n.*540T>G) c.1271T>G (p.Leu424Arg) c.1334T>G (p.Leu445Arg) n.267T>G c.1337T>G (p.Leu446Arg) c.1265T>G (p.Leu422Arg) c.1229T>G (p.Leu410Arg) c.1226T>G (p.Leu409Arg) c.656T>G (p.Leu219Arg) n.1772-2608A>C c.1181T>G (p.Leu394Arg) c.689T>G (p.Leu230Arg) | |
2 | g.27364816A>G | CA346197137 | EIF2B4,GTF3C2-AS2 | c.1274T>C (p.Leu425Pro) c.*540T>C (n.*540T>C) c.1271T>C (p.Leu424Pro) c.1334T>C (p.Leu445Pro) n.267T>C c.1337T>C (p.Leu446Pro) c.1265T>C (p.Leu422Pro) c.1229T>C (p.Leu410Pro) c.1226T>C (p.Leu409Pro) c.656T>C (p.Leu219Pro) n.1772-2608A>G c.1181T>C (p.Leu394Pro) c.689T>C (p.Leu230Pro) | |
2 | g.27364816A>T | CA346197139 | EIF2B4,GTF3C2-AS2 | c.1274T>A (p.Leu425Gln) c.*540T>A (n.*540T>A) c.1271T>A (p.Leu424Gln) c.1334T>A (p.Leu445Gln) n.267T>A c.1337T>A (p.Leu446Gln) c.1265T>A (p.Leu422Gln) c.1229T>A (p.Leu410Gln) c.1226T>A (p.Leu409Gln) c.656T>A (p.Leu219Gln) n.1772-2608A>T c.1181T>A (p.Leu394Gln) c.689T>A (p.Leu230Gln) | |
2 | g.27364817G>A | CA425410270 | EIF2B4,GTF3C2-AS2 | c.1273C>T (p.Leu425=) c.*539C>T (n.*539C>T) c.1270C>T (p.Leu424=) c.1333C>T (p.Leu445=) n.266C>T c.1336C>T (p.Leu446=) c.1264C>T (p.Leu422=) c.1228C>T (p.Leu410=) c.1225C>T (p.Leu409=) c.655C>T (p.Leu219=) n.1772-2607G>A c.1180C>T (p.Leu394=) c.688C>T (p.Leu230=) | |
2 | g.27364817G>C | CA346197142 | EIF2B4,GTF3C2-AS2 | c.1273C>G (p.Leu425Val) c.*539C>G (n.*539C>G) c.1270C>G (p.Leu424Val) c.1333C>G (p.Leu445Val) n.266C>G c.1336C>G (p.Leu446Val) c.1264C>G (p.Leu422Val) c.1228C>G (p.Leu410Val) c.1225C>G (p.Leu409Val) c.655C>G (p.Leu219Val) n.1772-2607G>C c.1180C>G (p.Leu394Val) c.688C>G (p.Leu230Val) | |
2 | g.27364817G>T | CA346197140 | EIF2B4,GTF3C2-AS2 | c.1273C>A (p.Leu425Met) c.*539C>A (n.*539C>A) c.1270C>A (p.Leu424Met) c.1333C>A (p.Leu445Met) n.266C>A c.1336C>A (p.Leu446Met) c.1264C>A (p.Leu422Met) c.1228C>A (p.Leu410Met) c.1225C>A (p.Leu409Met) c.655C>A (p.Leu219Met) n.1772-2607G>T c.1180C>A (p.Leu394Met) c.688C>A (p.Leu230Met) | |
2 | g.27364818G>A | CA425410279 | EIF2B4,GTF3C2-AS2 | c.1272C>T (p.Ala424=) c.*538C>T (n.*538C>T) c.1269C>T (p.Ala423=) c.1332C>T (p.Ala444=) n.265C>T c.1335C>T (p.Ala445=) c.1263C>T (p.Ala421=) c.1227C>T (p.Ala409=) c.1224C>T (p.Ala408=) c.654C>T (p.Ala218=) n.1772-2606G>A c.1179C>T (p.Ala393=) c.687C>T (p.Ala229=) | |
2 | g.27364818G>C | CA425410276 | EIF2B4,GTF3C2-AS2 | c.1272C>G (p.Ala424=) c.*538C>G (n.*538C>G) c.1269C>G (p.Ala423=) c.1332C>G (p.Ala444=) n.265C>G c.1335C>G (p.Ala445=) c.1263C>G (p.Ala421=) c.1227C>G (p.Ala409=) c.1224C>G (p.Ala408=) c.654C>G (p.Ala218=) n.1772-2606G>C c.1179C>G (p.Ala393=) c.687C>G (p.Ala229=) | |
2 | g.27364818G>T | CA425410274 | EIF2B4,GTF3C2-AS2 | c.1272C>A (p.Ala424=) c.*538C>A (n.*538C>A) c.1269C>A (p.Ala423=) c.1332C>A (p.Ala444=) n.265C>A c.1335C>A (p.Ala445=) c.1263C>A (p.Ala421=) c.1227C>A (p.Ala409=) c.1224C>A (p.Ala408=) c.654C>A (p.Ala218=) n.1772-2606G>T c.1179C>A (p.Ala393=) c.687C>A (p.Ala229=) | |
2 | g.27364819G>A | CA346197144 | EIF2B4,GTF3C2-AS2 | c.1271C>T (p.Ala424Val) c.*537C>T (n.*537C>T) c.1268C>T (p.Ala423Val) c.1331C>T (p.Ala444Val) n.264C>T c.1334C>T (p.Ala445Val) c.1262C>T (p.Ala421Val) c.1226C>T (p.Ala409Val) c.1223C>T (p.Ala408Val) c.653C>T (p.Ala218Val) n.1772-2605G>A c.1178C>T (p.Ala393Val) c.686C>T (p.Ala229Val) | |
2 | g.27364819G>C | CA346197145 | EIF2B4,GTF3C2-AS2 | c.1271C>G (p.Ala424Gly) c.*537C>G (n.*537C>G) c.1268C>G (p.Ala423Gly) c.1331C>G (p.Ala444Gly) n.264C>G c.1334C>G (p.Ala445Gly) c.1262C>G (p.Ala421Gly) c.1226C>G (p.Ala409Gly) c.1223C>G (p.Ala408Gly) c.653C>G (p.Ala218Gly) n.1772-2605G>C c.1178C>G (p.Ala393Gly) c.686C>G (p.Ala229Gly) | |
2 | g.27364819G>T | CA346197146 | EIF2B4,GTF3C2-AS2 | c.1271C>A (p.Ala424Asp) c.*537C>A (n.*537C>A) c.1268C>A (p.Ala423Asp) c.1331C>A (p.Ala444Asp) n.264C>A c.1334C>A (p.Ala445Asp) c.1262C>A (p.Ala421Asp) c.1226C>A (p.Ala409Asp) c.1223C>A (p.Ala408Asp) c.653C>A (p.Ala218Asp) n.1772-2605G>T c.1178C>A (p.Ala393Asp) c.686C>A (p.Ala229Asp) | |
2 | g.27364820C>A | CA346197148 | EIF2B4,GTF3C2-AS2 | c.1270G>T (p.Ala424Ser) c.*536G>T (n.*536G>T) c.1267G>T (p.Ala423Ser) c.1330G>T (p.Ala444Ser) n.263G>T c.1333G>T (p.Ala445Ser) c.1261G>T (p.Ala421Ser) c.1225G>T (p.Ala409Ser) c.1222G>T (p.Ala408Ser) c.652G>T (p.Ala218Ser) n.1772-2604C>A c.1177G>T (p.Ala393Ser) c.685G>T (p.Ala229Ser) | |
2 | g.27364820C>G | CA346197150 | EIF2B4,GTF3C2-AS2 | c.1270G>C (p.Ala424Pro) c.*536G>C (n.*536G>C) c.1267G>C (p.Ala423Pro) c.1330G>C (p.Ala444Pro) n.263G>C c.1333G>C (p.Ala445Pro) c.1261G>C (p.Ala421Pro) c.1225G>C (p.Ala409Pro) c.1222G>C (p.Ala408Pro) c.652G>C (p.Ala218Pro) n.1772-2604C>G c.1177G>C (p.Ala393Pro) c.685G>C (p.Ala229Pro) | |
2 | g.27364820C>T | CA346197151 | EIF2B4,GTF3C2-AS2 | c.1270G>A (p.Ala424Thr) c.*536G>A (n.*536G>A) c.1267G>A (p.Ala423Thr) c.1330G>A (p.Ala444Thr) n.263G>A c.1333G>A (p.Ala445Thr) c.1261G>A (p.Ala421Thr) c.1225G>A (p.Ala409Thr) c.1222G>A (p.Ala408Thr) c.652G>A (p.Ala218Thr) n.1772-2604C>T c.1177G>A (p.Ala393Thr) c.685G>A (p.Ala229Thr) | |
2 | g.27364821T>A | CA346197153 | EIF2B4,GTF3C2-AS2 | c.1269A>T (p.Leu423Phe) c.*535A>T (n.*535A>T) c.1266A>T (p.Leu422Phe) c.1329A>T (p.Leu443Phe) n.262A>T c.1332A>T (p.Leu444Phe) c.1260A>T (p.Leu420Phe) c.1224A>T (p.Leu408Phe) c.1221A>T (p.Leu407Phe) c.651A>T (p.Leu217Phe) n.1772-2603T>A c.1176A>T (p.Leu392Phe) c.684A>T (p.Leu228Phe) | |
2 | g.27364821T>C | CA425410285 | EIF2B4,GTF3C2-AS2 | c.1269A>G (p.Leu423=) c.*535A>G (n.*535A>G) c.1266A>G (p.Leu422=) c.1329A>G (p.Leu443=) n.262A>G c.1332A>G (p.Leu444=) c.1260A>G (p.Leu420=) c.1224A>G (p.Leu408=) c.1221A>G (p.Leu407=) c.651A>G (p.Leu217=) n.1772-2603T>C c.1176A>G (p.Leu392=) c.684A>G (p.Leu228=) | |
2 | g.27364821T>G | CA346197154 | EIF2B4,GTF3C2-AS2 | c.1269A>C (p.Leu423Phe) c.*535A>C (n.*535A>C) c.1266A>C (p.Leu422Phe) c.1329A>C (p.Leu443Phe) n.262A>C c.1332A>C (p.Leu444Phe) c.1260A>C (p.Leu420Phe) c.1224A>C (p.Leu408Phe) c.1221A>C (p.Leu407Phe) c.651A>C (p.Leu217Phe) n.1772-2603T>G c.1176A>C (p.Leu392Phe) c.684A>C (p.Leu228Phe) | |
2 | g.27364822A>C | CA346197155 | EIF2B4,GTF3C2-AS2 | c.1268T>G (p.Leu423Ter) c.*534T>G (n.*534T>G) c.1265T>G (p.Leu422Ter) c.1328T>G (p.Leu443Ter) n.261T>G c.1331T>G (p.Leu444Ter) c.1259T>G (p.Leu420Ter) c.1223T>G (p.Leu408Ter) c.1220T>G (p.Leu407Ter) c.650T>G (p.Leu217Ter) n.1772-2602A>C c.1175T>G (p.Leu392Ter) c.683T>G (p.Leu228Ter) | |
2 | g.27364822A>G | CA346197157 | EIF2B4,GTF3C2-AS2 | c.1268T>C (p.Leu423Ser) c.*534T>C (n.*534T>C) c.1265T>C (p.Leu422Ser) c.1328T>C (p.Leu443Ser) n.261T>C c.1331T>C (p.Leu444Ser) c.1259T>C (p.Leu420Ser) c.1223T>C (p.Leu408Ser) c.1220T>C (p.Leu407Ser) c.650T>C (p.Leu217Ser) n.1772-2602A>G c.1175T>C (p.Leu392Ser) c.683T>C (p.Leu228Ser) | gnomAD v4 |
2 | g.27364822A>T | CA346197159 | EIF2B4,GTF3C2-AS2 | c.1268T>A (p.Leu423Ter) c.*534T>A (n.*534T>A) c.1265T>A (p.Leu422Ter) c.1328T>A (p.Leu443Ter) n.261T>A c.1331T>A (p.Leu444Ter) c.1259T>A (p.Leu420Ter) c.1223T>A (p.Leu408Ter) c.1220T>A (p.Leu407Ter) c.650T>A (p.Leu217Ter) n.1772-2602A>T c.1175T>A (p.Leu392Ter) c.683T>A (p.Leu228Ter) | |
2 | g.27364823A>C | CA346197160 | EIF2B4,GTF3C2-AS2 | c.1267T>G (p.Leu423Val) c.*533T>G (n.*533T>G) c.1264T>G (p.Leu422Val) c.1327T>G (p.Leu443Val) n.260T>G c.1330T>G (p.Leu444Val) c.1258T>G (p.Leu420Val) c.1222T>G (p.Leu408Val) c.1219T>G (p.Leu407Val) c.649T>G (p.Leu217Val) n.1772-2601A>C c.1174T>G (p.Leu392Val) c.682T>G (p.Leu228Val) | COSMIC COSMIC |
2 | g.27364823A>G | CA425410291 | EIF2B4,GTF3C2-AS2 | c.1267T>C (p.Leu423=) c.*533T>C (n.*533T>C) c.1264T>C (p.Leu422=) c.1327T>C (p.Leu443=) n.260T>C c.1330T>C (p.Leu444=) c.1258T>C (p.Leu420=) c.1222T>C (p.Leu408=) c.1219T>C (p.Leu407=) c.649T>C (p.Leu217=) n.1772-2601A>G c.1174T>C (p.Leu392=) c.682T>C (p.Leu228=) | |
2 | g.27364823A>T | CA346197162 | EIF2B4,GTF3C2-AS2 | c.1267T>A (p.Leu423Ile) c.*533T>A (n.*533T>A) c.1264T>A (p.Leu422Ile) c.1327T>A (p.Leu443Ile) n.260T>A c.1330T>A (p.Leu444Ile) c.1258T>A (p.Leu420Ile) c.1222T>A (p.Leu408Ile) c.1219T>A (p.Leu407Ile) c.649T>A (p.Leu217Ile) n.1772-2601A>T c.1174T>A (p.Leu392Ile) c.682T>A (p.Leu228Ile) | |
2 | g.27364824C>A | CA346197166 | EIF2B4,GTF3C2-AS2 | c.1266G>T (p.Gln422His) c.*532G>T (n.*532G>T) c.1263G>T (p.Gln421His) c.1326G>T (p.Gln442His) n.259G>T c.1329G>T (p.Gln443His) c.1257G>T (p.Gln419His) c.1221G>T (p.Gln407His) c.1218G>T (p.Gln406His) c.648G>T (p.Gln216His) n.1772-2600C>A c.1173G>T (p.Gln391His) c.681G>T (p.Gln227His) | |
2 | g.27364824C= | CA1240242938 | EIF2B4,GTF3C2-AS2 | c.1266G= (p.Gln422=) c.*532G= (n.*532G=) c.1263G= (p.Gln421=) c.1326G= (p.Gln442=) n.259G= c.1329G= (p.Gln443=) c.1257G= (p.Gln419=) c.1221G= (p.Gln407=) c.1218G= (p.Gln406=) c.648G= (p.Gln216=) n.1772-2600C= c.1173G= (p.Gln391=) c.681G= (p.Gln227=) | |
2 | g.27364824C>G | CA346197164 | EIF2B4,GTF3C2-AS2 | c.1266G>C (p.Gln422His) c.*532G>C (n.*532G>C) c.1263G>C (p.Gln421His) c.1326G>C (p.Gln442His) n.259G>C c.1329G>C (p.Gln443His) c.1257G>C (p.Gln419His) c.1221G>C (p.Gln407His) c.1218G>C (p.Gln406His) c.648G>C (p.Gln216His) n.1772-2600C>G c.1173G>C (p.Gln391His) c.681G>C (p.Gln227His) | |
2 | g.27364824C>T | CA425410293 | EIF2B4,GTF3C2-AS2 | c.1266G>A (p.Gln422=) c.*532G>A (n.*532G>A) c.1263G>A (p.Gln421=) c.1326G>A (p.Gln442=) n.259G>A c.1329G>A (p.Gln443=) c.1257G>A (p.Gln419=) c.1221G>A (p.Gln407=) c.1218G>A (p.Gln406=) c.648G>A (p.Gln216=) n.1772-2600C>T c.1173G>A (p.Gln391=) c.681G>A (p.Gln227=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27364825T>A | CA346197167 | EIF2B4,GTF3C2-AS2 | c.1265A>T (p.Gln422Leu) c.*531A>T (n.*531A>T) c.1262A>T (p.Gln421Leu) c.1325A>T (p.Gln442Leu) n.258A>T c.1328A>T (p.Gln443Leu) c.1256A>T (p.Gln419Leu) c.1220A>T (p.Gln407Leu) c.1217A>T (p.Gln406Leu) c.647A>T (p.Gln216Leu) n.1772-2599T>A c.1172A>T (p.Gln391Leu) c.680A>T (p.Gln227Leu) | |
2 | g.27364825T>C | CA346197168 | EIF2B4,GTF3C2-AS2 | c.1265A>G (p.Gln422Arg) c.*531A>G (n.*531A>G) c.1262A>G (p.Gln421Arg) c.1325A>G (p.Gln442Arg) n.258A>G c.1328A>G (p.Gln443Arg) c.1256A>G (p.Gln419Arg) c.1220A>G (p.Gln407Arg) c.1217A>G (p.Gln406Arg) c.647A>G (p.Gln216Arg) n.1772-2599T>C c.1172A>G (p.Gln391Arg) c.680A>G (p.Gln227Arg) | |
2 | g.27364825T>G | CA346197170 | EIF2B4,GTF3C2-AS2 | c.1265A>C (p.Gln422Pro) c.*531A>C (n.*531A>C) c.1262A>C (p.Gln421Pro) c.1325A>C (p.Gln442Pro) n.258A>C c.1328A>C (p.Gln443Pro) c.1256A>C (p.Gln419Pro) c.1220A>C (p.Gln407Pro) c.1217A>C (p.Gln406Pro) c.647A>C (p.Gln216Pro) n.1772-2599T>G c.1172A>C (p.Gln391Pro) c.680A>C (p.Gln227Pro) | |
2 | g.27364827_27364828del | CA2658336180 | EIF2B4,GTF3C2-AS2 | c.1264_1265del (p.Gln422ValfsTer9) c.*530_*531del (n.*530_*531del) c.1261_1262del (p.Gln421ValfsTer9) c.1324_1325del (p.Gln442ValfsTer9) n.257_258del c.1327_1328del (p.Gln443ValfsTer9) c.1255_1256del (p.Gln419ValfsTer9) c.1219_1220del (p.Gln407ValfsTer9) c.1216_1217del (p.Gln406ValfsTer9) c.646_647del (p.Gln216ValfsTer9) n.1772-2597_1772-2596del c.1171_1172del (p.Gln391ValfsTer9) c.679_680del (p.Gln227ValfsTer9) | gnomAD v4 |
2 | g.27364826G>A | CA346197172 | EIF2B4,GTF3C2-AS2 | c.1264C>T (p.Gln422Ter) c.*530C>T (n.*530C>T) c.1261C>T (p.Gln421Ter) c.1324C>T (p.Gln442Ter) n.257C>T c.1327C>T (p.Gln443Ter) c.1255C>T (p.Gln419Ter) c.1219C>T (p.Gln407Ter) c.1216C>T (p.Gln406Ter) c.646C>T (p.Gln216Ter) n.1772-2598G>A c.1171C>T (p.Gln391Ter) c.679C>T (p.Gln227Ter) | |
2 | g.27364826G>C | CA346197173 | EIF2B4,GTF3C2-AS2 | c.1264C>G (p.Gln422Glu) c.*530C>G (n.*530C>G) c.1261C>G (p.Gln421Glu) c.1324C>G (p.Gln442Glu) n.257C>G c.1327C>G (p.Gln443Glu) c.1255C>G (p.Gln419Glu) c.1219C>G (p.Gln407Glu) c.1216C>G (p.Gln406Glu) c.646C>G (p.Gln216Glu) n.1772-2598G>C c.1171C>G (p.Gln391Glu) c.679C>G (p.Gln227Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27364826G= | CA1240242939 | EIF2B4,GTF3C2-AS2 | c.1264C= (p.Gln422=) c.*530C= (n.*530C=) c.1261C= (p.Gln421=) c.1324C= (p.Gln442=) n.257C= c.1327C= (p.Gln443=) c.1255C= (p.Gln419=) c.1219C= (p.Gln407=) c.1216C= (p.Gln406=) c.646C= (p.Gln216=) n.1772-2598G= c.1171C= (p.Gln391=) c.679C= (p.Gln227=) | |
2 | g.27364826G>T | CA346197174 | EIF2B4,GTF3C2-AS2 | c.1264C>A (p.Gln422Lys) c.*530C>A (n.*530C>A) c.1261C>A (p.Gln421Lys) c.1324C>A (p.Gln442Lys) n.257C>A c.1327C>A (p.Gln443Lys) c.1255C>A (p.Gln419Lys) c.1219C>A (p.Gln407Lys) c.1216C>A (p.Gln406Lys) c.646C>A (p.Gln216Lys) n.1772-2598G>T c.1171C>A (p.Gln391Lys) c.679C>A (p.Gln227Lys) | |
2 | g.27364827T>A | CA425410299 | EIF2B4,GTF3C2-AS2 | c.1263A>T (p.Ala421=) c.*529A>T (n.*529A>T) c.1260A>T (p.Ala420=) c.1323A>T (p.Ala441=) n.256A>T c.1326A>T (p.Ala442=) c.1254A>T (p.Ala418=) c.1218A>T (p.Ala406=) c.1215A>T (p.Ala405=) c.645A>T (p.Ala215=) n.1772-2597T>A c.1170A>T (p.Ala390=) c.678A>T (p.Ala226=) | |
2 | g.27364827T>C | CA425410298 | EIF2B4,GTF3C2-AS2 | c.1263A>G (p.Ala421=) c.*529A>G (n.*529A>G) c.1260A>G (p.Ala420=) c.1323A>G (p.Ala441=) n.256A>G c.1326A>G (p.Ala442=) c.1254A>G (p.Ala418=) c.1218A>G (p.Ala406=) c.1215A>G (p.Ala405=) c.645A>G (p.Ala215=) n.1772-2597T>C c.1170A>G (p.Ala390=) c.678A>G (p.Ala226=) | |
2 | g.27364827T>G | CA425410296 | EIF2B4,GTF3C2-AS2 | c.1263A>C (p.Ala421=) c.*529A>C (n.*529A>C) c.1260A>C (p.Ala420=) c.1323A>C (p.Ala441=) n.256A>C c.1326A>C (p.Ala442=) c.1254A>C (p.Ala418=) c.1218A>C (p.Ala406=) c.1215A>C (p.Ala405=) c.645A>C (p.Ala215=) n.1772-2597T>G c.1170A>C (p.Ala390=) c.678A>C (p.Ala226=) | |
2 | g.27364828G>A | CA346197178 | EIF2B4,GTF3C2-AS2 | c.1262C>T (p.Ala421Val) c.*528C>T (n.*528C>T) c.1259C>T (p.Ala420Val) c.1322C>T (p.Ala441Val) n.255C>T c.1325C>T (p.Ala442Val) c.1253C>T (p.Ala418Val) c.1217C>T (p.Ala406Val) c.1214C>T (p.Ala405Val) c.644C>T (p.Ala215Val) n.1772-2596G>A c.1169C>T (p.Ala390Val) c.677C>T (p.Ala226Val) | |
2 | g.27364828G>C | CA346197177 | EIF2B4,GTF3C2-AS2 | c.1262C>G (p.Ala421Gly) c.*528C>G (n.*528C>G) c.1259C>G (p.Ala420Gly) c.1322C>G (p.Ala441Gly) n.255C>G c.1325C>G (p.Ala442Gly) c.1253C>G (p.Ala418Gly) c.1217C>G (p.Ala406Gly) c.1214C>G (p.Ala405Gly) c.644C>G (p.Ala215Gly) n.1772-2596G>C c.1169C>G (p.Ala390Gly) c.677C>G (p.Ala226Gly) | |
2 | g.27364828G>T | CA346197175 | EIF2B4,GTF3C2-AS2 | c.1262C>A (p.Ala421Glu) c.*528C>A (n.*528C>A) c.1259C>A (p.Ala420Glu) c.1322C>A (p.Ala441Glu) n.255C>A c.1325C>A (p.Ala442Glu) c.1253C>A (p.Ala418Glu) c.1217C>A (p.Ala406Glu) c.1214C>A (p.Ala405Glu) c.644C>A (p.Ala215Glu) n.1772-2596G>T c.1169C>A (p.Ala390Glu) c.677C>A (p.Ala226Glu) | |
2 | g.27364829C>A | CA346197179 | EIF2B4,GTF3C2-AS2 | c.1261G>T (p.Ala421Ser) c.*527G>T (n.*527G>T) c.1258G>T (p.Ala420Ser) c.1321G>T (p.Ala441Ser) n.254G>T c.1324G>T (p.Ala442Ser) c.1252G>T (p.Ala418Ser) c.1216G>T (p.Ala406Ser) c.1213G>T (p.Ala405Ser) c.643G>T (p.Ala215Ser) n.1772-2595C>A c.1168G>T (p.Ala390Ser) c.676G>T (p.Ala226Ser) | |
2 | g.27364829C>G | CA346197180 | EIF2B4,GTF3C2-AS2 | c.1261G>C (p.Ala421Pro) c.*527G>C (n.*527G>C) c.1258G>C (p.Ala420Pro) c.1321G>C (p.Ala441Pro) n.254G>C c.1324G>C (p.Ala442Pro) c.1252G>C (p.Ala418Pro) c.1216G>C (p.Ala406Pro) c.1213G>C (p.Ala405Pro) c.643G>C (p.Ala215Pro) n.1772-2595C>G c.1168G>C (p.Ala390Pro) c.676G>C (p.Ala226Pro) | |
2 | g.27364829C>T | CA346197181 | EIF2B4,GTF3C2-AS2 | c.1261G>A (p.Ala421Thr) c.*527G>A (n.*527G>A) c.1258G>A (p.Ala420Thr) c.1321G>A (p.Ala441Thr) n.254G>A c.1324G>A (p.Ala442Thr) c.1252G>A (p.Ala418Thr) c.1216G>A (p.Ala406Thr) c.1213G>A (p.Ala405Thr) c.643G>A (p.Ala215Thr) n.1772-2595C>T c.1168G>A (p.Ala390Thr) c.676G>A (p.Ala226Thr) | |
2 | g.27364830T>A | CA425410304 | EIF2B4,GTF3C2-AS2 | c.1260A>T (p.Thr420=) c.*526A>T (n.*526A>T) c.1257A>T (p.Thr419=) c.1320A>T (p.Thr440=) n.253A>T c.1323A>T (p.Thr441=) c.1251A>T (p.Thr417=) c.1215A>T (p.Thr405=) c.1212A>T (p.Thr404=) c.642A>T (p.Thr214=) n.1772-2594T>A c.1167A>T (p.Thr389=) c.675A>T (p.Thr225=) | gnomAD v4 |
2 | g.27364830T>C | CA425410308 | EIF2B4,GTF3C2-AS2 | c.1260A>G (p.Thr420=) c.*526A>G (n.*526A>G) c.1257A>G (p.Thr419=) c.1320A>G (p.Thr440=) n.253A>G c.1323A>G (p.Thr441=) c.1251A>G (p.Thr417=) c.1215A>G (p.Thr405=) c.1212A>G (p.Thr404=) c.642A>G (p.Thr214=) n.1772-2594T>C c.1167A>G (p.Thr389=) c.675A>G (p.Thr225=) | |
2 | g.27364830T>G | CA425410306 | EIF2B4,GTF3C2-AS2 | c.1260A>C (p.Thr420=) c.*526A>C (n.*526A>C) c.1257A>C (p.Thr419=) c.1320A>C (p.Thr440=) n.253A>C c.1323A>C (p.Thr441=) c.1251A>C (p.Thr417=) c.1215A>C (p.Thr405=) c.1212A>C (p.Thr404=) c.642A>C (p.Thr214=) n.1772-2594T>G c.1167A>C (p.Thr389=) c.675A>C (p.Thr225=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27364830T= | CA1240242940 | EIF2B4,GTF3C2-AS2 | c.1260A= (p.Thr420=) c.*526A= (n.*526A=) c.1257A= (p.Thr419=) c.1320A= (p.Thr440=) n.253A= c.1323A= (p.Thr441=) c.1251A= (p.Thr417=) c.1215A= (p.Thr405=) c.1212A= (p.Thr404=) c.642A= (p.Thr214=) n.1772-2594T= c.1167A= (p.Thr389=) c.675A= (p.Thr225=) | |
2 | g.27364831G>A | CA346197182 | EIF2B4,GTF3C2-AS2 | c.1259C>T (p.Thr420Ile) c.*525C>T (n.*525C>T) c.1256C>T (p.Thr419Ile) c.1319C>T (p.Thr440Ile) n.252C>T c.1322C>T (p.Thr441Ile) c.1250C>T (p.Thr417Ile) c.1214C>T (p.Thr405Ile) c.1211C>T (p.Thr404Ile) c.641C>T (p.Thr214Ile) n.1772-2593G>A c.1166C>T (p.Thr389Ile) c.674C>T (p.Thr225Ile) | |
2 | g.27364831G>C | CA346197183 | EIF2B4,GTF3C2-AS2 | c.1259C>G (p.Thr420Arg) c.*525C>G (n.*525C>G) c.1256C>G (p.Thr419Arg) c.1319C>G (p.Thr440Arg) n.252C>G c.1322C>G (p.Thr441Arg) c.1250C>G (p.Thr417Arg) c.1214C>G (p.Thr405Arg) c.1211C>G (p.Thr404Arg) c.641C>G (p.Thr214Arg) n.1772-2593G>C c.1166C>G (p.Thr389Arg) c.674C>G (p.Thr225Arg) | |
2 | g.27364831G>T | CA346197184 | EIF2B4,GTF3C2-AS2 | c.1259C>A (p.Thr420Lys) c.*525C>A (n.*525C>A) c.1256C>A (p.Thr419Lys) c.1319C>A (p.Thr440Lys) n.252C>A c.1322C>A (p.Thr441Lys) c.1250C>A (p.Thr417Lys) c.1214C>A (p.Thr405Lys) c.1211C>A (p.Thr404Lys) c.641C>A (p.Thr214Lys) n.1772-2593G>T c.1166C>A (p.Thr389Lys) c.674C>A (p.Thr225Lys) | |
2 | g.27364832T>A | CA346197185 | EIF2B4,GTF3C2-AS2 | c.1258A>T (p.Thr420Ser) c.*524A>T (n.*524A>T) c.1255A>T (p.Thr419Ser) c.1318A>T (p.Thr440Ser) n.251A>T c.1321A>T (p.Thr441Ser) c.1249A>T (p.Thr417Ser) c.1213A>T (p.Thr405Ser) c.1210A>T (p.Thr404Ser) c.640A>T (p.Thr214Ser) n.1772-2592T>A c.1165A>T (p.Thr389Ser) c.673A>T (p.Thr225Ser) | |
2 | g.27364832T>C | CA346197187 | EIF2B4,GTF3C2-AS2 | c.1258A>G (p.Thr420Ala) c.*524A>G (n.*524A>G) c.1255A>G (p.Thr419Ala) c.1318A>G (p.Thr440Ala) n.251A>G c.1321A>G (p.Thr441Ala) c.1249A>G (p.Thr417Ala) c.1213A>G (p.Thr405Ala) c.1210A>G (p.Thr404Ala) c.640A>G (p.Thr214Ala) n.1772-2592T>C c.1165A>G (p.Thr389Ala) c.673A>G (p.Thr225Ala) | |
2 | g.27364832T>G | CA346197186 | EIF2B4,GTF3C2-AS2 | c.1258A>C (p.Thr420Pro) c.*524A>C (n.*524A>C) c.1255A>C (p.Thr419Pro) c.1318A>C (p.Thr440Pro) n.251A>C c.1321A>C (p.Thr441Pro) c.1249A>C (p.Thr417Pro) c.1213A>C (p.Thr405Pro) c.1210A>C (p.Thr404Pro) c.640A>C (p.Thr214Pro) n.1772-2592T>G c.1165A>C (p.Thr389Pro) c.673A>C (p.Thr225Pro) | |
2 | g.27364833C>A | CA425410310 | EIF2B4,GTF3C2-AS2 | c.1257G>T (p.Gly419=) c.*523G>T (n.*523G>T) c.1254G>T (p.Gly418=) c.1317G>T (p.Gly439=) n.250G>T c.1320G>T (p.Gly440=) c.1248G>T (p.Gly416=) c.1212G>T (p.Gly404=) c.1209G>T (p.Gly403=) c.639G>T (p.Gly213=) n.1772-2591C>A c.1164G>T (p.Gly388=) c.672G>T (p.Gly224=) | |
2 | g.27364833C= | CA1240242941 | EIF2B4,GTF3C2-AS2 | c.1257G= (p.Gly419=) c.*523G= (n.*523G=) c.1254G= (p.Gly418=) c.1317G= (p.Gly439=) n.250G= c.1320G= (p.Gly440=) c.1248G= (p.Gly416=) c.1212G= (p.Gly404=) c.1209G= (p.Gly403=) c.639G= (p.Gly213=) n.1772-2591C= c.1164G= (p.Gly388=) c.672G= (p.Gly224=) | |
2 | g.27364833C>G | CA425410314 | EIF2B4,GTF3C2-AS2 | c.1257G>C (p.Gly419=) c.*523G>C (n.*523G>C) c.1254G>C (p.Gly418=) c.1317G>C (p.Gly439=) n.250G>C c.1320G>C (p.Gly440=) c.1248G>C (p.Gly416=) c.1212G>C (p.Gly404=) c.1209G>C (p.Gly403=) c.639G>C (p.Gly213=) n.1772-2591C>G c.1164G>C (p.Gly388=) c.672G>C (p.Gly224=) | |
2 | g.27364833C>T | CA425410316 | EIF2B4,GTF3C2-AS2 | c.1257G>A (p.Gly419=) c.*523G>A (n.*523G>A) c.1254G>A (p.Gly418=) c.1317G>A (p.Gly439=) n.250G>A c.1320G>A (p.Gly440=) c.1248G>A (p.Gly416=) c.1212G>A (p.Gly404=) c.1209G>A (p.Gly403=) c.639G>A (p.Gly213=) n.1772-2591C>T c.1164G>A (p.Gly388=) c.672G>A (p.Gly224=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.27364834C>A | CA346197189 | EIF2B4,GTF3C2-AS2 | c.1256G>T (p.Gly419Val) c.*522G>T (n.*522G>T) c.1253G>T (p.Gly418Val) c.1316G>T (p.Gly439Val) n.249G>T c.1319G>T (p.Gly440Val) c.1247G>T (p.Gly416Val) c.1211G>T (p.Gly404Val) c.1208G>T (p.Gly403Val) c.638G>T (p.Gly213Val) n.1772-2590C>A c.1163G>T (p.Gly388Val) c.671G>T (p.Gly224Val) | |
2 | g.27364834C>G | CA346197190 | EIF2B4,GTF3C2-AS2 | c.1256G>C (p.Gly419Ala) c.*522G>C (n.*522G>C) c.1253G>C (p.Gly418Ala) c.1316G>C (p.Gly439Ala) n.249G>C c.1319G>C (p.Gly440Ala) c.1247G>C (p.Gly416Ala) c.1211G>C (p.Gly404Ala) c.1208G>C (p.Gly403Ala) c.638G>C (p.Gly213Ala) n.1772-2590C>G c.1163G>C (p.Gly388Ala) c.671G>C (p.Gly224Ala) | |
2 | g.27364834C>T | CA346197191 | EIF2B4,GTF3C2-AS2 | c.1256G>A (p.Gly419Glu) c.*522G>A (n.*522G>A) c.1253G>A (p.Gly418Glu) c.1316G>A (p.Gly439Glu) n.249G>A c.1319G>A (p.Gly440Glu) c.1247G>A (p.Gly416Glu) c.1211G>A (p.Gly404Glu) c.1208G>A (p.Gly403Glu) c.638G>A (p.Gly213Glu) n.1772-2590C>T c.1163G>A (p.Gly388Glu) c.671G>A (p.Gly224Glu) | |
2 | g.27364835C>A | CA346197193 | EIF2B4,GTF3C2-AS2 | c.1255G>T (p.Gly419Trp) c.*521G>T (n.*521G>T) c.1252G>T (p.Gly418Trp) c.1315G>T (p.Gly439Trp) n.248G>T c.1318G>T (p.Gly440Trp) c.1246G>T (p.Gly416Trp) c.1210G>T (p.Gly404Trp) c.1207G>T (p.Gly403Trp) c.637G>T (p.Gly213Trp) n.1772-2589C>A c.1162G>T (p.Gly388Trp) c.670G>T (p.Gly224Trp) | |
2 | g.27364835C>G | CA346197194 | EIF2B4,GTF3C2-AS2 | c.1255G>C (p.Gly419Arg) c.*521G>C (n.*521G>C) c.1252G>C (p.Gly418Arg) c.1315G>C (p.Gly439Arg) n.248G>C c.1318G>C (p.Gly440Arg) c.1246G>C (p.Gly416Arg) c.1210G>C (p.Gly404Arg) c.1207G>C (p.Gly403Arg) c.637G>C (p.Gly213Arg) n.1772-2589C>G c.1162G>C (p.Gly388Arg) c.670G>C (p.Gly224Arg) | |
2 | g.27364835C>T | CA346197196 | EIF2B4,GTF3C2-AS2 | c.1255G>A (p.Gly419Arg) c.*521G>A (n.*521G>A) c.1252G>A (p.Gly418Arg) c.1315G>A (p.Gly439Arg) n.248G>A c.1318G>A (p.Gly440Arg) c.1246G>A (p.Gly416Arg) c.1210G>A (p.Gly404Arg) c.1207G>A (p.Gly403Arg) c.637G>A (p.Gly213Arg) n.1772-2589C>T c.1162G>A (p.Gly388Arg) c.670G>A (p.Gly224Arg) | gnomAD v4 |
2 | g.27364836T>A | CA425410320 | EIF2B4,GTF3C2-AS2 | c.1254A>T (p.Val418=) c.*520A>T (n.*520A>T) c.1251A>T (p.Val417=) c.1314A>T (p.Val438=) n.247A>T c.1317A>T (p.Val439=) c.1245A>T (p.Val415=) c.1209A>T (p.Val403=) c.1206A>T (p.Val402=) c.636A>T (p.Val212=) n.1772-2588T>A c.1161A>T (p.Val387=) c.669A>T (p.Val223=) | |
2 | g.27364836T>C | CA425410322 | EIF2B4,GTF3C2-AS2 | c.1254A>G (p.Val418=) c.*520A>G (n.*520A>G) c.1251A>G (p.Val417=) c.1314A>G (p.Val438=) n.247A>G c.1317A>G (p.Val439=) c.1245A>G (p.Val415=) c.1209A>G (p.Val403=) c.1206A>G (p.Val402=) c.636A>G (p.Val212=) n.1772-2588T>C c.1161A>G (p.Val387=) c.669A>G (p.Val223=) | |
2 | g.27364836T>G | CA425410323 | EIF2B4,GTF3C2-AS2 | c.1254A>C (p.Val418=) c.*520A>C (n.*520A>C) c.1251A>C (p.Val417=) c.1314A>C (p.Val438=) n.247A>C c.1317A>C (p.Val439=) c.1245A>C (p.Val415=) c.1209A>C (p.Val403=) c.1206A>C (p.Val402=) c.636A>C (p.Val212=) n.1772-2588T>G c.1161A>C (p.Val387=) c.669A>C (p.Val223=) | |
2 | g.27364837A= | CA1240242942 | EIF2B4,GTF3C2-AS2 | c.1253T= (p.Val418=) c.*519T= (n.*519T=) c.1250T= (p.Val417=) c.1313T= (p.Val438=) n.246T= c.1316T= (p.Val439=) c.1244T= (p.Val415=) c.1208T= (p.Val403=) c.1205T= (p.Val402=) c.635T= (p.Val212=) n.1772-2587A= c.1160T= (p.Val387=) c.668T= (p.Val223=) | |
2 | g.27364837A>C | CA346197198 | EIF2B4,GTF3C2-AS2 | c.1253T>G (p.Val418Gly) c.*519T>G (n.*519T>G) c.1250T>G (p.Val417Gly) c.1313T>G (p.Val438Gly) n.246T>G c.1316T>G (p.Val439Gly) c.1244T>G (p.Val415Gly) c.1208T>G (p.Val403Gly) c.1205T>G (p.Val402Gly) c.635T>G (p.Val212Gly) n.1772-2587A>C c.1160T>G (p.Val387Gly) c.668T>G (p.Val223Gly) | |
2 | g.27364837A>G | CA346197199 | EIF2B4,GTF3C2-AS2 | c.1253T>C (p.Val418Ala) c.*519T>C (n.*519T>C) c.1250T>C (p.Val417Ala) c.1313T>C (p.Val438Ala) n.246T>C c.1316T>C (p.Val439Ala) c.1244T>C (p.Val415Ala) c.1208T>C (p.Val403Ala) c.1205T>C (p.Val402Ala) c.635T>C (p.Val212Ala) n.1772-2587A>G c.1160T>C (p.Val387Ala) c.668T>C (p.Val223Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27364837A>T | CA346197201 | EIF2B4,GTF3C2-AS2 | c.1253T>A (p.Val418Glu) c.*519T>A (n.*519T>A) c.1250T>A (p.Val417Glu) c.1313T>A (p.Val438Glu) n.246T>A c.1316T>A (p.Val439Glu) c.1244T>A (p.Val415Glu) c.1208T>A (p.Val403Glu) c.1205T>A (p.Val402Glu) c.635T>A (p.Val212Glu) n.1772-2587A>T c.1160T>A (p.Val387Glu) c.668T>A (p.Val223Glu) | |
2 | g.27364838C>A | CA346197202 | EIF2B4,GTF3C2-AS2 | c.1252G>T (p.Val418Leu) c.*518G>T (n.*518G>T) c.1249G>T (p.Val417Leu) c.1312G>T (p.Val438Leu) n.245G>T c.1315G>T (p.Val439Leu) c.1243G>T (p.Val415Leu) c.1207G>T (p.Val403Leu) c.1204G>T (p.Val402Leu) c.634G>T (p.Val212Leu) n.1772-2586C>A c.1159G>T (p.Val387Leu) c.667G>T (p.Val223Leu) | |
2 | g.27364838C>G | CA346197204 | EIF2B4,GTF3C2-AS2 | c.1252G>C (p.Val418Leu) c.*518G>C (n.*518G>C) c.1249G>C (p.Val417Leu) c.1312G>C (p.Val438Leu) n.245G>C c.1315G>C (p.Val439Leu) c.1243G>C (p.Val415Leu) c.1207G>C (p.Val403Leu) c.1204G>C (p.Val402Leu) c.634G>C (p.Val212Leu) n.1772-2586C>G c.1159G>C (p.Val387Leu) c.667G>C (p.Val223Leu) | |
2 | g.27364838C>T | CA346197206 | EIF2B4,GTF3C2-AS2 | c.1252G>A (p.Val418Ile) c.*518G>A (n.*518G>A) c.1249G>A (p.Val417Ile) c.1312G>A (p.Val438Ile) n.245G>A c.1315G>A (p.Val439Ile) c.1243G>A (p.Val415Ile) c.1207G>A (p.Val403Ile) c.1204G>A (p.Val402Ile) c.634G>A (p.Val212Ile) n.1772-2586C>T c.1159G>A (p.Val387Ile) c.667G>A (p.Val223Ile) | |
2 | g.27364839C>A | CA425410325 | EIF2B4,GTF3C2-AS2 | c.1251G>T (p.Arg417=) c.*517G>T (n.*517G>T) c.1248G>T (p.Arg416=) c.1311G>T (p.Arg437=) n.244G>T c.1314G>T (p.Arg438=) c.1242G>T (p.Arg414=) c.1206G>T (p.Arg402=) c.1203G>T (p.Arg401=) c.633G>T (p.Arg211=) n.1772-2585C>A c.1158G>T (p.Arg386=) c.666G>T (p.Arg222=) | |
2 | g.27364839C= | CA1240242943 | EIF2B4,GTF3C2-AS2 | c.1251G= (p.Arg417=) c.*517G= (n.*517G=) c.1248G= (p.Arg416=) c.1311G= (p.Arg437=) n.244G= c.1314G= (p.Arg438=) c.1242G= (p.Arg414=) c.1206G= (p.Arg402=) c.1203G= (p.Arg401=) c.633G= (p.Arg211=) n.1772-2585C= c.1158G= (p.Arg386=) c.666G= (p.Arg222=) | |
2 | g.27364839C>G | CA425410326 | EIF2B4,GTF3C2-AS2 | c.1251G>C (p.Arg417=) c.*517G>C (n.*517G>C) c.1248G>C (p.Arg416=) c.1311G>C (p.Arg437=) n.244G>C c.1314G>C (p.Arg438=) c.1242G>C (p.Arg414=) c.1206G>C (p.Arg402=) c.1203G>C (p.Arg401=) c.633G>C (p.Arg211=) n.1772-2585C>G c.1158G>C (p.Arg386=) c.666G>C (p.Arg222=) | |
2 | g.27364839C>T | CA425410328 | EIF2B4,GTF3C2-AS2 | c.1251G>A (p.Arg417=) c.*517G>A (n.*517G>A) c.1248G>A (p.Arg416=) c.1311G>A (p.Arg437=) n.244G>A c.1314G>A (p.Arg438=) c.1242G>A (p.Arg414=) c.1206G>A (p.Arg402=) c.1203G>A (p.Arg401=) c.633G>A (p.Arg211=) n.1772-2585C>T c.1158G>A (p.Arg386=) c.666G>A (p.Arg222=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27364840C>A | CA346197208 | EIF2B4,GTF3C2-AS2 | c.1250G>T (p.Arg417Leu) c.*516G>T (n.*516G>T) c.1247G>T (p.Arg416Leu) c.1310G>T (p.Arg437Leu) n.243G>T c.1313G>T (p.Arg438Leu) c.1241G>T (p.Arg414Leu) c.1205G>T (p.Arg402Leu) c.1202G>T (p.Arg401Leu) c.632G>T (p.Arg211Leu) n.1772-2584C>A c.1157G>T (p.Arg386Leu) c.665G>T (p.Arg222Leu) | |
2 | g.27364840C>G | CA346197210 | EIF2B4,GTF3C2-AS2 | c.1250G>C (p.Arg417Pro) c.*516G>C (n.*516G>C) c.1247G>C (p.Arg416Pro) c.1310G>C (p.Arg437Pro) n.243G>C c.1313G>C (p.Arg438Pro) c.1241G>C (p.Arg414Pro) c.1205G>C (p.Arg402Pro) c.1202G>C (p.Arg401Pro) c.632G>C (p.Arg211Pro) n.1772-2584C>G c.1157G>C (p.Arg386Pro) c.665G>C (p.Arg222Pro) | |
2 | g.27364840C>T | CA346197207 | EIF2B4,GTF3C2-AS2 | c.1250G>A (p.Arg417Gln) c.*516G>A (n.*516G>A) c.1247G>A (p.Arg416Gln) c.1310G>A (p.Arg437Gln) n.243G>A c.1313G>A (p.Arg438Gln) c.1241G>A (p.Arg414Gln) c.1205G>A (p.Arg402Gln) c.1202G>A (p.Arg401Gln) c.632G>A (p.Arg211Gln) n.1772-2584C>T c.1157G>A (p.Arg386Gln) c.665G>A (p.Arg222Gln) | gnomAD v4 |
2 | g.27364841G>A | CA1576612 | EIF2B4,GTF3C2-AS2 | c.1249C>T (p.Arg417Trp) c.*515C>T (n.*515C>T) c.1246C>T (p.Arg416Trp) c.1309C>T (p.Arg437Trp) n.242C>T c.1312C>T (p.Arg438Trp) c.1240C>T (p.Arg414Trp) c.1204C>T (p.Arg402Trp) c.1201C>T (p.Arg401Trp) c.631C>T (p.Arg211Trp) n.1772-2583G>A c.1156C>T (p.Arg386Trp) c.664C>T (p.Arg222Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364841G>C | CA346197213 | EIF2B4,GTF3C2-AS2 | c.1249C>G (p.Arg417Gly) c.*515C>G (n.*515C>G) c.1246C>G (p.Arg416Gly) c.1309C>G (p.Arg437Gly) n.242C>G c.1312C>G (p.Arg438Gly) c.1240C>G (p.Arg414Gly) c.1204C>G (p.Arg402Gly) c.1201C>G (p.Arg401Gly) c.631C>G (p.Arg211Gly) n.1772-2583G>C c.1156C>G (p.Arg386Gly) c.664C>G (p.Arg222Gly) | |
2 | g.27364841G= | CA1240242944 | EIF2B4,GTF3C2-AS2 | c.1249C= (p.Arg417=) c.*515C= (n.*515C=) c.1246C= (p.Arg416=) c.1309C= (p.Arg437=) n.242C= c.1312C= (p.Arg438=) c.1240C= (p.Arg414=) c.1204C= (p.Arg402=) c.1201C= (p.Arg401=) c.631C= (p.Arg211=) n.1772-2583G= c.1156C= (p.Arg386=) c.664C= (p.Arg222=) | |
2 | g.27364841G>T | CA1576613 | EIF2B4,GTF3C2-AS2 | c.1249C>A (p.Arg417=) c.*515C>A (n.*515C>A) c.1246C>A (p.Arg416=) c.1309C>A (p.Arg437=) n.242C>A c.1312C>A (p.Arg438=) c.1240C>A (p.Arg414=) c.1204C>A (p.Arg402=) c.1201C>A (p.Arg401=) c.631C>A (p.Arg211=) n.1772-2583G>T c.1156C>A (p.Arg386=) c.664C>A (p.Arg222=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364842T>A | CA425410339 | EIF2B4,GTF3C2-AS2 | c.1248A>T (p.Ser416=) c.*514A>T (n.*514A>T) c.1245A>T (p.Ser415=) c.1308A>T (p.Ser436=) n.241A>T c.1311A>T (p.Ser437=) c.1239A>T (p.Ser413=) c.1203A>T (p.Ser401=) c.1200A>T (p.Ser400=) c.630A>T (p.Ser210=) n.1772-2582T>A c.1155A>T (p.Ser385=) c.663A>T (p.Ser221=) | |
2 | g.27364842T>C | CA425410340 | EIF2B4,GTF3C2-AS2 | c.1248A>G (p.Ser416=) c.*514A>G (n.*514A>G) c.1245A>G (p.Ser415=) c.1308A>G (p.Ser436=) n.241A>G c.1311A>G (p.Ser437=) c.1239A>G (p.Ser413=) c.1203A>G (p.Ser401=) c.1200A>G (p.Ser400=) c.630A>G (p.Ser210=) n.1772-2582T>C c.1155A>G (p.Ser385=) c.663A>G (p.Ser221=) | ClinVar |
2 | g.27364842T>G | CA425410341 | EIF2B4,GTF3C2-AS2 | c.1248A>C (p.Ser416=) c.*514A>C (n.*514A>C) c.1245A>C (p.Ser415=) c.1308A>C (p.Ser436=) n.241A>C c.1311A>C (p.Ser437=) c.1239A>C (p.Ser413=) c.1203A>C (p.Ser401=) c.1200A>C (p.Ser400=) c.630A>C (p.Ser210=) n.1772-2582T>G c.1155A>C (p.Ser385=) c.663A>C (p.Ser221=) | |
2 | g.27364843G>A | CA346197215 | EIF2B4,GTF3C2-AS2 | c.1247C>T (p.Ser416Leu) c.*513C>T (n.*513C>T) c.1244C>T (p.Ser415Leu) c.1307C>T (p.Ser436Leu) n.240C>T c.1310C>T (p.Ser437Leu) c.1238C>T (p.Ser413Leu) c.1202C>T (p.Ser401Leu) c.1199C>T (p.Ser400Leu) c.629C>T (p.Ser210Leu) n.1772-2581G>A c.1154C>T (p.Ser385Leu) c.662C>T (p.Ser221Leu) | |
2 | g.27364843G>C | CA346197217 | EIF2B4,GTF3C2-AS2 | c.1247C>G (p.Ser416Ter) c.*513C>G (n.*513C>G) c.1244C>G (p.Ser415Ter) c.1307C>G (p.Ser436Ter) n.240C>G c.1310C>G (p.Ser437Ter) c.1238C>G (p.Ser413Ter) c.1202C>G (p.Ser401Ter) c.1199C>G (p.Ser400Ter) c.629C>G (p.Ser210Ter) n.1772-2581G>C c.1154C>G (p.Ser385Ter) c.662C>G (p.Ser221Ter) | |
2 | g.27364843G>T | CA346197218 | EIF2B4,GTF3C2-AS2 | c.1247C>A (p.Ser416Ter) c.*513C>A (n.*513C>A) c.1244C>A (p.Ser415Ter) c.1307C>A (p.Ser436Ter) n.240C>A c.1310C>A (p.Ser437Ter) c.1238C>A (p.Ser413Ter) c.1202C>A (p.Ser401Ter) c.1199C>A (p.Ser400Ter) c.629C>A (p.Ser210Ter) n.1772-2581G>T c.1154C>A (p.Ser385Ter) c.662C>A (p.Ser221Ter) | |
2 | g.27364844A>C | CA346197223 | EIF2B4,GTF3C2-AS2 | c.1246T>G (p.Ser416Ala) c.*512T>G (n.*512T>G) c.1243T>G (p.Ser415Ala) c.1306T>G (p.Ser436Ala) n.239T>G c.1309T>G (p.Ser437Ala) c.1237T>G (p.Ser413Ala) c.1201T>G (p.Ser401Ala) c.1198T>G (p.Ser400Ala) c.628T>G (p.Ser210Ala) n.1772-2580A>C c.1153T>G (p.Ser385Ala) c.661T>G (p.Ser221Ala) | |
2 | g.27364844A>G | CA346197220 | EIF2B4,GTF3C2-AS2 | c.1246T>C (p.Ser416Pro) c.*512T>C (n.*512T>C) c.1243T>C (p.Ser415Pro) c.1306T>C (p.Ser436Pro) n.239T>C c.1309T>C (p.Ser437Pro) c.1237T>C (p.Ser413Pro) c.1201T>C (p.Ser401Pro) c.1198T>C (p.Ser400Pro) c.628T>C (p.Ser210Pro) n.1772-2580A>G c.1153T>C (p.Ser385Pro) c.661T>C (p.Ser221Pro) | |
2 | g.27364844A>T | CA346197221 | EIF2B4,GTF3C2-AS2 | c.1246T>A (p.Ser416Thr) c.*512T>A (n.*512T>A) c.1243T>A (p.Ser415Thr) c.1306T>A (p.Ser436Thr) n.239T>A c.1309T>A (p.Ser437Thr) c.1237T>A (p.Ser413Thr) c.1201T>A (p.Ser401Thr) c.1198T>A (p.Ser400Thr) c.628T>A (p.Ser210Thr) n.1772-2580A>T c.1153T>A (p.Ser385Thr) c.661T>A (p.Ser221Thr) | |
2 | g.27364845C>A | CA346197225 | EIF2B4,GTF3C2-AS2 | c.1245G>T (p.Met415Ile) c.*511G>T (n.*511G>T) c.1242G>T (p.Met414Ile) c.1305G>T (p.Met435Ile) n.238G>T c.1308G>T (p.Met436Ile) c.1236G>T (p.Met412Ile) c.1200G>T (p.Met400Ile) c.1197G>T (p.Met399Ile) c.627G>T (p.Met209Ile) n.1772-2579C>A c.1152G>T (p.Met384Ile) c.660G>T (p.Met220Ile) | |
2 | g.27364845C>G | CA346197226 | EIF2B4,GTF3C2-AS2 | c.1245G>C (p.Met415Ile) c.*511G>C (n.*511G>C) c.1242G>C (p.Met414Ile) c.1305G>C (p.Met435Ile) n.238G>C c.1308G>C (p.Met436Ile) c.1236G>C (p.Met412Ile) c.1200G>C (p.Met400Ile) c.1197G>C (p.Met399Ile) c.627G>C (p.Met209Ile) n.1772-2579C>G c.1152G>C (p.Met384Ile) c.660G>C (p.Met220Ile) | |
2 | g.27364845C>T | CA346197227 | EIF2B4,GTF3C2-AS2 | c.1245G>A (p.Met415Ile) c.*511G>A (n.*511G>A) c.1242G>A (p.Met414Ile) c.1305G>A (p.Met435Ile) n.238G>A c.1308G>A (p.Met436Ile) c.1236G>A (p.Met412Ile) c.1200G>A (p.Met400Ile) c.1197G>A (p.Met399Ile) c.627G>A (p.Met209Ile) n.1772-2579C>T c.1152G>A (p.Met384Ile) c.660G>A (p.Met220Ile) | |
2 | g.27364846A>C | CA346197229 | EIF2B4,GTF3C2-AS2 | c.1244T>G (p.Met415Arg) c.*510T>G (n.*510T>G) c.1241T>G (p.Met414Arg) c.1304T>G (p.Met435Arg) n.237T>G c.1307T>G (p.Met436Arg) c.1235T>G (p.Met412Arg) c.1199T>G (p.Met400Arg) c.1196T>G (p.Met399Arg) c.626T>G (p.Met209Arg) n.1772-2578A>C c.1151T>G (p.Met384Arg) c.659T>G (p.Met220Arg) | |
2 | g.27364846A>G | CA346197230 | EIF2B4,GTF3C2-AS2 | c.1244T>C (p.Met415Thr) c.*510T>C (n.*510T>C) c.1241T>C (p.Met414Thr) c.1304T>C (p.Met435Thr) n.237T>C c.1307T>C (p.Met436Thr) c.1235T>C (p.Met412Thr) c.1199T>C (p.Met400Thr) c.1196T>C (p.Met399Thr) c.626T>C (p.Met209Thr) n.1772-2578A>G c.1151T>C (p.Met384Thr) c.659T>C (p.Met220Thr) | |
2 | g.27364846A>T | CA346197231 | EIF2B4,GTF3C2-AS2 | c.1244T>A (p.Met415Lys) c.*510T>A (n.*510T>A) c.1241T>A (p.Met414Lys) c.1304T>A (p.Met435Lys) n.237T>A c.1307T>A (p.Met436Lys) c.1235T>A (p.Met412Lys) c.1199T>A (p.Met400Lys) c.1196T>A (p.Met399Lys) c.626T>A (p.Met209Lys) n.1772-2578A>T c.1151T>A (p.Met384Lys) c.659T>A (p.Met220Lys) | |
2 | g.27364847T>A | CA346197234 | EIF2B4,GTF3C2-AS2 | c.1243A>T (p.Met415Leu) c.*509A>T (n.*509A>T) c.1240A>T (p.Met414Leu) c.1303A>T (p.Met435Leu) n.236A>T c.1306A>T (p.Met436Leu) c.1234A>T (p.Met412Leu) c.1198A>T (p.Met400Leu) c.1195A>T (p.Met399Leu) c.625A>T (p.Met209Leu) n.1772-2577T>A c.1150A>T (p.Met384Leu) c.658A>T (p.Met220Leu) | |
2 | g.27364847T>C | CA346197236 | EIF2B4,GTF3C2-AS2 | c.1243A>G (p.Met415Val) c.*509A>G (n.*509A>G) c.1240A>G (p.Met414Val) c.1303A>G (p.Met435Val) n.236A>G c.1306A>G (p.Met436Val) c.1234A>G (p.Met412Val) c.1198A>G (p.Met400Val) c.1195A>G (p.Met399Val) c.625A>G (p.Met209Val) n.1772-2577T>C c.1150A>G (p.Met384Val) c.658A>G (p.Met220Val) | |
2 | g.27364847T>G | CA346197235 | EIF2B4,GTF3C2-AS2 | c.1243A>C (p.Met415Leu) c.*509A>C (n.*509A>C) c.1240A>C (p.Met414Leu) c.1303A>C (p.Met435Leu) n.236A>C c.1306A>C (p.Met436Leu) c.1234A>C (p.Met412Leu) c.1198A>C (p.Met400Leu) c.1195A>C (p.Met399Leu) c.625A>C (p.Met209Leu) n.1772-2577T>G c.1150A>C (p.Met384Leu) c.658A>C (p.Met220Leu) | gnomAD v4 |
2 | g.27364848C>A | CA425410348 | EIF2B4,GTF3C2-AS2 | c.1242G>T (p.Val414=) c.*508G>T (n.*508G>T) c.1239G>T (p.Val413=) c.1302G>T (p.Val434=) n.235G>T c.1305G>T (p.Val435=) c.1233G>T (p.Val411=) c.1197G>T (p.Val399=) c.1194G>T (p.Val398=) c.624G>T (p.Val208=) n.1772-2576C>A c.1149G>T (p.Val383=) c.657G>T (p.Val219=) | |
2 | g.27364848C= | CA1240242945 | EIF2B4,GTF3C2-AS2 | c.1242G= (p.Val414=) c.*508G= (n.*508G=) c.1239G= (p.Val413=) c.1302G= (p.Val434=) n.235G= c.1305G= (p.Val435=) c.1233G= (p.Val411=) c.1197G= (p.Val399=) c.1194G= (p.Val398=) c.624G= (p.Val208=) n.1772-2576C= c.1149G= (p.Val383=) c.657G= (p.Val219=) | |
2 | g.27364848C>G | CA425410352 | EIF2B4,GTF3C2-AS2 | c.1242G>C (p.Val414=) c.*508G>C (n.*508G>C) c.1239G>C (p.Val413=) c.1302G>C (p.Val434=) n.235G>C c.1305G>C (p.Val435=) c.1233G>C (p.Val411=) c.1197G>C (p.Val399=) c.1194G>C (p.Val398=) c.624G>C (p.Val208=) n.1772-2576C>G c.1149G>C (p.Val383=) c.657G>C (p.Val219=) | |
2 | g.27364848C>T | CA425410353 | EIF2B4,GTF3C2-AS2 | c.1242G>A (p.Val414=) c.*508G>A (n.*508G>A) c.1239G>A (p.Val413=) c.1302G>A (p.Val434=) n.235G>A c.1305G>A (p.Val435=) c.1233G>A (p.Val411=) c.1197G>A (p.Val399=) c.1194G>A (p.Val398=) c.624G>A (p.Val208=) n.1772-2576C>T c.1149G>A (p.Val383=) c.657G>A (p.Val219=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27364849A>C | CA346197237 | EIF2B4,GTF3C2-AS2 | c.1241T>G (p.Val414Gly) c.*507T>G (n.*507T>G) c.1238T>G (p.Val413Gly) c.1301T>G (p.Val434Gly) n.234T>G c.1304T>G (p.Val435Gly) c.1232T>G (p.Val411Gly) c.1196T>G (p.Val399Gly) c.1193T>G (p.Val398Gly) c.623T>G (p.Val208Gly) n.1772-2575A>C c.1148T>G (p.Val383Gly) c.656T>G (p.Val219Gly) | |
2 | g.27364849A>G | CA346197238 | EIF2B4,GTF3C2-AS2 | c.1241T>C (p.Val414Ala) c.*507T>C (n.*507T>C) c.1238T>C (p.Val413Ala) c.1301T>C (p.Val434Ala) n.234T>C c.1304T>C (p.Val435Ala) c.1232T>C (p.Val411Ala) c.1196T>C (p.Val399Ala) c.1193T>C (p.Val398Ala) c.623T>C (p.Val208Ala) n.1772-2575A>G c.1148T>C (p.Val383Ala) c.656T>C (p.Val219Ala) | |
2 | g.27364849A>T | CA346197240 | EIF2B4,GTF3C2-AS2 | c.1241T>A (p.Val414Glu) c.*507T>A (n.*507T>A) c.1238T>A (p.Val413Glu) c.1301T>A (p.Val434Glu) n.234T>A c.1304T>A (p.Val435Glu) c.1232T>A (p.Val411Glu) c.1196T>A (p.Val399Glu) c.1193T>A (p.Val398Glu) c.623T>A (p.Val208Glu) n.1772-2575A>T c.1148T>A (p.Val383Glu) c.656T>A (p.Val219Glu) | |
2 | g.27364850C>A | CA346197242 | EIF2B4,GTF3C2-AS2 | c.1240G>T (p.Val414Leu) c.*506G>T (n.*506G>T) c.1237G>T (p.Val413Leu) c.1300G>T (p.Val434Leu) n.233G>T c.1303G>T (p.Val435Leu) c.1231G>T (p.Val411Leu) c.1195G>T (p.Val399Leu) c.1192G>T (p.Val398Leu) c.622G>T (p.Val208Leu) n.1772-2574C>A c.1147G>T (p.Val383Leu) c.655G>T (p.Val219Leu) | |
2 | g.27364850C= | CA1240242946 | EIF2B4,GTF3C2-AS2 | c.1240G= (p.Val414=) c.*506G= (n.*506G=) c.1237G= (p.Val413=) c.1300G= (p.Val434=) n.233G= c.1303G= (p.Val435=) c.1231G= (p.Val411=) c.1195G= (p.Val399=) c.1192G= (p.Val398=) c.622G= (p.Val208=) n.1772-2574C= c.1147G= (p.Val383=) c.655G= (p.Val219=) | |
2 | g.27364850C>G | CA346197243 | EIF2B4,GTF3C2-AS2 | c.1240G>C (p.Val414Leu) c.*506G>C (n.*506G>C) c.1237G>C (p.Val413Leu) c.1300G>C (p.Val434Leu) n.233G>C c.1303G>C (p.Val435Leu) c.1231G>C (p.Val411Leu) c.1195G>C (p.Val399Leu) c.1192G>C (p.Val398Leu) c.622G>C (p.Val208Leu) n.1772-2574C>G c.1147G>C (p.Val383Leu) c.655G>C (p.Val219Leu) | dbSNP |
2 | g.27364850C>T | CA346197244 | EIF2B4,GTF3C2-AS2 | c.1240G>A (p.Val414Met) c.*506G>A (n.*506G>A) c.1237G>A (p.Val413Met) c.1300G>A (p.Val434Met) n.233G>A c.1303G>A (p.Val435Met) c.1231G>A (p.Val411Met) c.1195G>A (p.Val399Met) c.1192G>A (p.Val398Met) c.622G>A (p.Val208Met) n.1772-2574C>T c.1147G>A (p.Val383Met) c.655G>A (p.Val219Met) | |
2 | g.27364851A>C | CA425410357 | EIF2B4,GTF3C2-AS2 | c.1239T>G (p.Ser413=) c.*505T>G (n.*505T>G) c.1236T>G (p.Ser412=) c.1299T>G (p.Ser433=) n.232T>G c.1302T>G (p.Ser434=) c.1230T>G (p.Ser410=) c.1194T>G (p.Ser398=) c.1191T>G (p.Ser397=) c.621T>G (p.Ser207=) n.1772-2573A>C c.1146T>G (p.Ser382=) c.654T>G (p.Ser218=) | |
2 | g.27364851A>G | CA425410359 | EIF2B4,GTF3C2-AS2 | c.1239T>C (p.Ser413=) c.*505T>C (n.*505T>C) c.1236T>C (p.Ser412=) c.1299T>C (p.Ser433=) n.232T>C c.1302T>C (p.Ser434=) c.1230T>C (p.Ser410=) c.1194T>C (p.Ser398=) c.1191T>C (p.Ser397=) c.621T>C (p.Ser207=) n.1772-2573A>G c.1146T>C (p.Ser382=) c.654T>C (p.Ser218=) | |
2 | g.27364851A>T | CA425410358 | EIF2B4,GTF3C2-AS2 | c.1239T>A (p.Ser413=) c.*505T>A (n.*505T>A) c.1236T>A (p.Ser412=) c.1299T>A (p.Ser433=) n.232T>A c.1302T>A (p.Ser434=) c.1230T>A (p.Ser410=) c.1194T>A (p.Ser398=) c.1191T>A (p.Ser397=) c.621T>A (p.Ser207=) n.1772-2573A>T c.1146T>A (p.Ser382=) c.654T>A (p.Ser218=) | |
2 | g.27364851_27364852insTCACC | CA645539328 | EIF2B4,GTF3C2-AS2 | c.1238_1239insGGTGA (p.Ser416Ter) c.*504_*505insGGTGA (n.*504_*505insGGTGA) c.1235_1236insGGTGA (p.Ser415Ter) c.1298_1299insGGTGA (p.Ser436Ter) n.231_232insGGTGA c.1301_1302insGGTGA (p.Ser437Ter) c.1229_1230insGGTGA (p.Ser413Ter) c.1193_1194insGGTGA (p.Ser401Ter) c.1190_1191insGGTGA (p.Ser400Ter) c.620_621insGGTGA (p.Ser210Ter) n.1772-2573_1772-2572insTCACC c.1145_1146insGGTGA (p.Ser385Ter) c.653_654insGGTGA (p.Ser221Ter) | COSMIC COSMIC |
2 | g.27364852G>A | CA346197246 | EIF2B4,GTF3C2-AS2 | c.1238C>T (p.Ser413Phe) c.*504C>T (n.*504C>T) c.1235C>T (p.Ser412Phe) c.1298C>T (p.Ser433Phe) n.231C>T c.1301C>T (p.Ser434Phe) c.1229C>T (p.Ser410Phe) c.1193C>T (p.Ser398Phe) c.1190C>T (p.Ser397Phe) c.620C>T (p.Ser207Phe) n.1772-2572G>A c.1145C>T (p.Ser382Phe) c.653C>T (p.Ser218Phe) | |
2 | g.27364852G>C | CA346197247 | EIF2B4,GTF3C2-AS2 | c.1238C>G (p.Ser413Cys) c.*504C>G (n.*504C>G) c.1235C>G (p.Ser412Cys) c.1298C>G (p.Ser433Cys) n.231C>G c.1301C>G (p.Ser434Cys) c.1229C>G (p.Ser410Cys) c.1193C>G (p.Ser398Cys) c.1190C>G (p.Ser397Cys) c.620C>G (p.Ser207Cys) n.1772-2572G>C c.1145C>G (p.Ser382Cys) c.653C>G (p.Ser218Cys) | |
2 | g.27364852G>T | CA346197248 | EIF2B4,GTF3C2-AS2 | c.1238C>A (p.Ser413Tyr) c.*504C>A (n.*504C>A) c.1235C>A (p.Ser412Tyr) c.1298C>A (p.Ser433Tyr) n.231C>A c.1301C>A (p.Ser434Tyr) c.1229C>A (p.Ser410Tyr) c.1193C>A (p.Ser398Tyr) c.1190C>A (p.Ser397Tyr) c.620C>A (p.Ser207Tyr) n.1772-2572G>T c.1145C>A (p.Ser382Tyr) c.653C>A (p.Ser218Tyr) | |
2 | g.27364853A>C | CA346197249 | EIF2B4,GTF3C2-AS2 | c.1237T>G (p.Ser413Ala) c.*503T>G (n.*503T>G) c.1234T>G (p.Ser412Ala) c.1297T>G (p.Ser433Ala) n.230T>G c.1300T>G (p.Ser434Ala) c.1228T>G (p.Ser410Ala) c.1192T>G (p.Ser398Ala) c.1189T>G (p.Ser397Ala) c.619T>G (p.Ser207Ala) n.1772-2571A>C c.1144T>G (p.Ser382Ala) c.652T>G (p.Ser218Ala) | |
2 | g.27364853A>G | CA346197250 | EIF2B4,GTF3C2-AS2 | c.1237T>C (p.Ser413Pro) c.*503T>C (n.*503T>C) c.1234T>C (p.Ser412Pro) c.1297T>C (p.Ser433Pro) n.230T>C c.1300T>C (p.Ser434Pro) c.1228T>C (p.Ser410Pro) c.1192T>C (p.Ser398Pro) c.1189T>C (p.Ser397Pro) c.619T>C (p.Ser207Pro) n.1772-2571A>G c.1144T>C (p.Ser382Pro) c.652T>C (p.Ser218Pro) | |
2 | g.27364853A>T | CA346197251 | EIF2B4,GTF3C2-AS2 | c.1237T>A (p.Ser413Thr) c.*503T>A (n.*503T>A) c.1234T>A (p.Ser412Thr) c.1297T>A (p.Ser433Thr) n.230T>A c.1300T>A (p.Ser434Thr) c.1228T>A (p.Ser410Thr) c.1192T>A (p.Ser398Thr) c.1189T>A (p.Ser397Thr) c.619T>A (p.Ser207Thr) n.1772-2571A>T c.1144T>A (p.Ser382Thr) c.652T>A (p.Ser218Thr) | |
2 | g.27364854C>A | CA425410364 | EIF2B4,GTF3C2-AS2 | c.1236G>T (p.Gly412=) c.*502G>T (n.*502G>T) c.1233G>T (p.Gly411=) c.1296G>T (p.Gly432=) n.229G>T c.1299G>T (p.Gly433=) c.1227G>T (p.Gly409=) c.1191G>T (p.Gly397=) c.1188G>T (p.Gly396=) c.618G>T (p.Gly206=) n.1772-2570C>A c.1143G>T (p.Gly381=) c.651G>T (p.Gly217=) | |
2 | g.27364854C= | CA1240242947 | EIF2B4,GTF3C2-AS2 | c.1236G= (p.Gly412=) c.*502G= (n.*502G=) c.1233G= (p.Gly411=) c.1296G= (p.Gly432=) n.229G= c.1299G= (p.Gly433=) c.1227G= (p.Gly409=) c.1191G= (p.Gly397=) c.1188G= (p.Gly396=) c.618G= (p.Gly206=) n.1772-2570C= c.1143G= (p.Gly381=) c.651G= (p.Gly217=) | |
2 | g.27364854C>G | CA425410367 | EIF2B4,GTF3C2-AS2 | c.1236G>C (p.Gly412=) c.*502G>C (n.*502G>C) c.1233G>C (p.Gly411=) c.1296G>C (p.Gly432=) n.229G>C c.1299G>C (p.Gly433=) c.1227G>C (p.Gly409=) c.1191G>C (p.Gly397=) c.1188G>C (p.Gly396=) c.618G>C (p.Gly206=) n.1772-2570C>G c.1143G>C (p.Gly381=) c.651G>C (p.Gly217=) | |
2 | g.27364854C>T | CA425410368 | EIF2B4,GTF3C2-AS2 | c.1236G>A (p.Gly412=) c.*502G>A (n.*502G>A) c.1233G>A (p.Gly411=) c.1296G>A (p.Gly432=) n.229G>A c.1299G>A (p.Gly433=) c.1227G>A (p.Gly409=) c.1191G>A (p.Gly397=) c.1188G>A (p.Gly396=) c.618G>A (p.Gly206=) n.1772-2570C>T c.1143G>A (p.Gly381=) c.651G>A (p.Gly217=) | ClinVar dbSNP |
2 | g.27364855C>A | CA346197254 | EIF2B4,GTF3C2-AS2 | c.1235G>T (p.Gly412Val) c.*501G>T (n.*501G>T) c.1232G>T (p.Gly411Val) c.1295G>T (p.Gly432Val) n.228G>T c.1298G>T (p.Gly433Val) c.1226G>T (p.Gly409Val) c.1190G>T (p.Gly397Val) c.1187G>T (p.Gly396Val) c.617G>T (p.Gly206Val) n.1772-2569C>A c.1142G>T (p.Gly381Val) c.650G>T (p.Gly217Val) | |
2 | g.27364855C>G | CA346197252 | EIF2B4,GTF3C2-AS2 | c.1235G>C (p.Gly412Ala) c.*501G>C (n.*501G>C) c.1232G>C (p.Gly411Ala) c.1295G>C (p.Gly432Ala) n.228G>C c.1298G>C (p.Gly433Ala) c.1226G>C (p.Gly409Ala) c.1190G>C (p.Gly397Ala) c.1187G>C (p.Gly396Ala) c.617G>C (p.Gly206Ala) n.1772-2569C>G c.1142G>C (p.Gly381Ala) c.650G>C (p.Gly217Ala) | |
2 | g.27364855C>T | CA346197253 | EIF2B4,GTF3C2-AS2 | c.1235G>A (p.Gly412Glu) c.*501G>A (n.*501G>A) c.1232G>A (p.Gly411Glu) c.1295G>A (p.Gly432Glu) n.228G>A c.1298G>A (p.Gly433Glu) c.1226G>A (p.Gly409Glu) c.1190G>A (p.Gly397Glu) c.1187G>A (p.Gly396Glu) c.617G>A (p.Gly206Glu) n.1772-2569C>T c.1142G>A (p.Gly381Glu) c.650G>A (p.Gly217Glu) | |
2 | g.27364856C>A | CA346197255 | EIF2B4,GTF3C2-AS2 | c.1234G>T (p.Gly412Trp) c.*500G>T (n.*500G>T) c.1231G>T (p.Gly411Trp) c.1294G>T (p.Gly432Trp) n.227G>T c.1297G>T (p.Gly433Trp) c.1225G>T (p.Gly409Trp) c.1189G>T (p.Gly397Trp) c.1186G>T (p.Gly396Trp) c.616G>T (p.Gly206Trp) n.1772-2568C>A c.1141G>T (p.Gly381Trp) c.649G>T (p.Gly217Trp) | |
2 | g.27364856C= | CA1240242948 | EIF2B4,GTF3C2-AS2 | c.1234G= (p.Gly412=) c.*500G= (n.*500G=) c.1231G= (p.Gly411=) c.1294G= (p.Gly432=) n.227G= c.1297G= (p.Gly433=) c.1225G= (p.Gly409=) c.1189G= (p.Gly397=) c.1186G= (p.Gly396=) c.616G= (p.Gly206=) n.1772-2568C= c.1141G= (p.Gly381=) c.649G= (p.Gly217=) | |
2 | g.27364856C>G | CA346197256 | EIF2B4,GTF3C2-AS2 | c.1234G>C (p.Gly412Arg) c.*500G>C (n.*500G>C) c.1231G>C (p.Gly411Arg) c.1294G>C (p.Gly432Arg) n.227G>C c.1297G>C (p.Gly433Arg) c.1225G>C (p.Gly409Arg) c.1189G>C (p.Gly397Arg) c.1186G>C (p.Gly396Arg) c.616G>C (p.Gly206Arg) n.1772-2568C>G c.1141G>C (p.Gly381Arg) c.649G>C (p.Gly217Arg) | |
2 | g.27364856C>T | CA346197257 | EIF2B4,GTF3C2-AS2 | c.1234G>A (p.Gly412Arg) c.*500G>A (n.*500G>A) c.1231G>A (p.Gly411Arg) c.1294G>A (p.Gly432Arg) n.227G>A c.1297G>A (p.Gly433Arg) c.1225G>A (p.Gly409Arg) c.1189G>A (p.Gly397Arg) c.1186G>A (p.Gly396Arg) c.616G>A (p.Gly206Arg) n.1772-2568C>T c.1141G>A (p.Gly381Arg) c.649G>A (p.Gly217Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27364857G>A | CA148784 | EIF2B4,GTF3C2-AS2 | c.1233C>T (p.Asn411=) c.*499C>T (n.*499C>T) c.1230C>T (p.Asn410=) c.1293C>T (p.Asn431=) n.226C>T c.1296C>T (p.Asn432=) c.1224C>T (p.Asn408=) c.1188C>T (p.Asn396=) c.1185C>T (p.Asn395=) c.615C>T (p.Asn205=) n.1772-2567G>A c.1140C>T (p.Asn380=) c.648C>T (p.Asn216=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364857G>C | CA346197258 | EIF2B4,GTF3C2-AS2 | c.1233C>G (p.Asn411Lys) c.*499C>G (n.*499C>G) c.1230C>G (p.Asn410Lys) c.1293C>G (p.Asn431Lys) n.226C>G c.1296C>G (p.Asn432Lys) c.1224C>G (p.Asn408Lys) c.1188C>G (p.Asn396Lys) c.1185C>G (p.Asn395Lys) c.615C>G (p.Asn205Lys) n.1772-2567G>C c.1140C>G (p.Asn380Lys) c.648C>G (p.Asn216Lys) | |
2 | g.27364857G= | CA1240242949 | EIF2B4,GTF3C2-AS2 | c.1233C= (p.Asn411=) c.*499C= (n.*499C=) c.1230C= (p.Asn410=) c.1293C= (p.Asn431=) n.226C= c.1296C= (p.Asn432=) c.1224C= (p.Asn408=) c.1188C= (p.Asn396=) c.1185C= (p.Asn395=) c.615C= (p.Asn205=) n.1772-2567G= c.1140C= (p.Asn380=) c.648C= (p.Asn216=) | |
2 | g.27364857G>T | CA346197259 | EIF2B4,GTF3C2-AS2 | c.1233C>A (p.Asn411Lys) c.*499C>A (n.*499C>A) c.1230C>A (p.Asn410Lys) c.1293C>A (p.Asn431Lys) n.226C>A c.1296C>A (p.Asn432Lys) c.1224C>A (p.Asn408Lys) c.1188C>A (p.Asn396Lys) c.1185C>A (p.Asn395Lys) c.615C>A (p.Asn205Lys) n.1772-2567G>T c.1140C>A (p.Asn380Lys) c.648C>A (p.Asn216Lys) | |
2 | g.27364858T>A | CA346197260 | EIF2B4,GTF3C2-AS2 | c.1232A>T (p.Asn411Ile) c.*498A>T (n.*498A>T) c.1229A>T (p.Asn410Ile) c.1292A>T (p.Asn431Ile) n.225A>T c.1295A>T (p.Asn432Ile) c.1223A>T (p.Asn408Ile) c.1187A>T (p.Asn396Ile) c.1184A>T (p.Asn395Ile) c.614A>T (p.Asn205Ile) n.1772-2566T>A c.1139A>T (p.Asn380Ile) c.647A>T (p.Asn216Ile) | |
2 | g.27364858T>C | CA346197261 | EIF2B4,GTF3C2-AS2 | c.1232A>G (p.Asn411Ser) c.*498A>G (n.*498A>G) c.1229A>G (p.Asn410Ser) c.1292A>G (p.Asn431Ser) n.225A>G c.1295A>G (p.Asn432Ser) c.1223A>G (p.Asn408Ser) c.1187A>G (p.Asn396Ser) c.1184A>G (p.Asn395Ser) c.614A>G (p.Asn205Ser) n.1772-2566T>C c.1139A>G (p.Asn380Ser) c.647A>G (p.Asn216Ser) | |
2 | g.27364858T>G | CA346197262 | EIF2B4,GTF3C2-AS2 | c.1232A>C (p.Asn411Thr) c.*498A>C (n.*498A>C) c.1229A>C (p.Asn410Thr) c.1292A>C (p.Asn431Thr) n.225A>C c.1295A>C (p.Asn432Thr) c.1223A>C (p.Asn408Thr) c.1187A>C (p.Asn396Thr) c.1184A>C (p.Asn395Thr) c.614A>C (p.Asn205Thr) n.1772-2566T>G c.1139A>C (p.Asn380Thr) c.647A>C (p.Asn216Thr) | |
2 | g.27364859T>A | CA346197263 | EIF2B4,GTF3C2-AS2 | c.1231A>T (p.Asn411Tyr) c.*497A>T (n.*497A>T) c.1228A>T (p.Asn410Tyr) c.1291A>T (p.Asn431Tyr) n.224A>T c.1294A>T (p.Asn432Tyr) c.1222A>T (p.Asn408Tyr) c.1186A>T (p.Asn396Tyr) c.1183A>T (p.Asn395Tyr) c.613A>T (p.Asn205Tyr) n.1772-2565T>A c.1138A>T (p.Asn380Tyr) c.646A>T (p.Asn216Tyr) | |
2 | g.27364859T>C | CA346197265 | EIF2B4,GTF3C2-AS2 | c.1231A>G (p.Asn411Asp) c.*497A>G (n.*497A>G) c.1228A>G (p.Asn410Asp) c.1291A>G (p.Asn431Asp) n.224A>G c.1294A>G (p.Asn432Asp) c.1222A>G (p.Asn408Asp) c.1186A>G (p.Asn396Asp) c.1183A>G (p.Asn395Asp) c.613A>G (p.Asn205Asp) n.1772-2565T>C c.1138A>G (p.Asn380Asp) c.646A>G (p.Asn216Asp) | |
2 | g.27364859T>G | CA346197266 | EIF2B4,GTF3C2-AS2 | c.1231A>C (p.Asn411His) c.*497A>C (n.*497A>C) c.1228A>C (p.Asn410His) c.1291A>C (p.Asn431His) n.224A>C c.1294A>C (p.Asn432His) c.1222A>C (p.Asn408His) c.1186A>C (p.Asn396His) c.1183A>C (p.Asn395His) c.613A>C (p.Asn205His) n.1772-2565T>G c.1138A>C (p.Asn380His) c.646A>C (p.Asn216His) | |
2 | g.27364860G>A | CA1576614 | EIF2B4,GTF3C2-AS2 | c.1230C>T (p.Ala410=) c.*496C>T (n.*496C>T) c.1227C>T (p.Ala409=) c.1290C>T (p.Ala430=) n.223C>T c.1293C>T (p.Ala431=) c.1221C>T (p.Ala407=) c.1185C>T (p.Ala395=) c.1182C>T (p.Ala394=) c.612C>T (p.Ala204=) n.1772-2564G>A c.1137C>T (p.Ala379=) c.645C>T (p.Ala215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27364860G>C | CA425410373 | EIF2B4,GTF3C2-AS2 | c.1230C>G (p.Ala410=) c.*496C>G (n.*496C>G) c.1227C>G (p.Ala409=) c.1290C>G (p.Ala430=) n.223C>G c.1293C>G (p.Ala431=) c.1221C>G (p.Ala407=) c.1185C>G (p.Ala395=) c.1182C>G (p.Ala394=) c.612C>G (p.Ala204=) n.1772-2564G>C c.1137C>G (p.Ala379=) c.645C>G (p.Ala215=) | |
2 | g.27364860G= | CA1240242950 | EIF2B4,GTF3C2-AS2 | c.1230C= (p.Ala410=) c.*496C= (n.*496C=) c.1227C= (p.Ala409=) c.1290C= (p.Ala430=) n.223C= c.1293C= (p.Ala431=) c.1221C= (p.Ala407=) c.1185C= (p.Ala395=) c.1182C= (p.Ala394=) c.612C= (p.Ala204=) n.1772-2564G= c.1137C= (p.Ala379=) c.645C= (p.Ala215=) | |
2 | g.27364860G>T | CA425410374 | EIF2B4,GTF3C2-AS2 | c.1230C>A (p.Ala410=) c.*496C>A (n.*496C>A) c.1227C>A (p.Ala409=) c.1290C>A (p.Ala430=) n.223C>A c.1293C>A (p.Ala431=) c.1221C>A (p.Ala407=) c.1185C>A (p.Ala395=) c.1182C>A (p.Ala394=) c.612C>A (p.Ala204=) n.1772-2564G>T c.1137C>A (p.Ala379=) c.645C>A (p.Ala215=) | |
2 | g.27364861G>A | CA346197270 | EIF2B4,GTF3C2-AS2 | c.1229C>T (p.Ala410Val) c.*495C>T (n.*495C>T) c.1226C>T (p.Ala409Val) c.1289C>T (p.Ala430Val) n.222C>T c.1292C>T (p.Ala431Val) c.1220C>T (p.Ala407Val) c.1184C>T (p.Ala395Val) c.1181C>T (p.Ala394Val) c.611C>T (p.Ala204Val) n.1772-2563G>A c.1136C>T (p.Ala379Val) c.644C>T (p.Ala215Val) | |
2 | g.27364861G>C | CA1576615 | EIF2B4,GTF3C2-AS2 | c.1229C>G (p.Ala410Gly) c.*495C>G (n.*495C>G) c.1226C>G (p.Ala409Gly) c.1289C>G (p.Ala430Gly) n.222C>G c.1292C>G (p.Ala431Gly) c.1220C>G (p.Ala407Gly) c.1184C>G (p.Ala395Gly) c.1181C>G (p.Ala394Gly) c.611C>G (p.Ala204Gly) n.1772-2563G>C c.1136C>G (p.Ala379Gly) c.644C>G (p.Ala215Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.27364861G= | CA1240242951 | EIF2B4,GTF3C2-AS2 | c.1229C= (p.Ala410=) c.*495C= (n.*495C=) c.1226C= (p.Ala409=) c.1289C= (p.Ala430=) n.222C= c.1292C= (p.Ala431=) c.1220C= (p.Ala407=) c.1184C= (p.Ala395=) c.1181C= (p.Ala394=) c.611C= (p.Ala204=) n.1772-2563G= c.1136C= (p.Ala379=) c.644C= (p.Ala215=) | |
2 | g.27364861G>T | CA346197268 | EIF2B4,GTF3C2-AS2 | c.1229C>A (p.Ala410Asp) c.*495C>A (n.*495C>A) c.1226C>A (p.Ala409Asp) c.1289C>A (p.Ala430Asp) n.222C>A c.1292C>A (p.Ala431Asp) c.1220C>A (p.Ala407Asp) c.1184C>A (p.Ala395Asp) c.1181C>A (p.Ala394Asp) c.611C>A (p.Ala204Asp) n.1772-2563G>T c.1136C>A (p.Ala379Asp) c.644C>A (p.Ala215Asp) | |
2 | g.27364862C>A | CA346197271 | EIF2B4,GTF3C2-AS2 | c.1228G>T (p.Ala410Ser) c.*494G>T (n.*494G>T) c.1225G>T (p.Ala409Ser) c.1288G>T (p.Ala430Ser) n.221G>T c.1291G>T (p.Ala431Ser) c.1219G>T (p.Ala407Ser) c.1183G>T (p.Ala395Ser) c.1180G>T (p.Ala394Ser) c.610G>T (p.Ala204Ser) n.1772-2562C>A c.1135G>T (p.Ala379Ser) c.643G>T (p.Ala215Ser) | |
2 | g.27364862C>G | CA346197272 | EIF2B4,GTF3C2-AS2 | c.1228G>C (p.Ala410Pro) c.*494G>C (n.*494G>C) c.1225G>C (p.Ala409Pro) c.1288G>C (p.Ala430Pro) n.221G>C c.1291G>C (p.Ala431Pro) c.1219G>C (p.Ala407Pro) c.1183G>C (p.Ala395Pro) c.1180G>C (p.Ala394Pro) c.610G>C (p.Ala204Pro) n.1772-2562C>G c.1135G>C (p.Ala379Pro) c.643G>C (p.Ala215Pro) | |
2 | g.27364862C>T | CA346197273 | EIF2B4,GTF3C2-AS2 | c.1228G>A (p.Ala410Thr) c.*494G>A (n.*494G>A) c.1225G>A (p.Ala409Thr) c.1288G>A (p.Ala430Thr) n.221G>A c.1291G>A (p.Ala431Thr) c.1219G>A (p.Ala407Thr) c.1183G>A (p.Ala395Thr) c.1180G>A (p.Ala394Thr) c.610G>A (p.Ala204Thr) n.1772-2562C>T c.1135G>A (p.Ala379Thr) c.643G>A (p.Ala215Thr) | |
2 | g.27364863C>A | CA346197274 | EIF2B4,GTF3C2-AS2 | c.1227G>T (p.Leu409Phe) c.*493G>T (n.*493G>T) c.1224G>T (p.Leu408Phe) c.1287G>T (p.Leu429Phe) n.220G>T c.1290G>T (p.Leu430Phe) c.1218G>T (p.Leu406Phe) c.1182G>T (p.Leu394Phe) c.1179G>T (p.Leu393Phe) c.609G>T (p.Leu203Phe) n.1772-2561C>A c.1134G>T (p.Leu378Phe) c.642G>T (p.Leu214Phe) | |
2 | g.27364863C>G | CA346197276 | EIF2B4,GTF3C2-AS2 | c.1227G>C (p.Leu409Phe) c.*493G>C (n.*493G>C) c.1224G>C (p.Leu408Phe) c.1287G>C (p.Leu429Phe) n.220G>C c.1290G>C (p.Leu430Phe) c.1218G>C (p.Leu406Phe) c.1182G>C (p.Leu394Phe) c.1179G>C (p.Leu393Phe) c.609G>C (p.Leu203Phe) n.1772-2561C>G c.1134G>C (p.Leu378Phe) c.642G>C (p.Leu214Phe) | |
2 | g.27364863C>T | CA425410375 | EIF2B4,GTF3C2-AS2 | c.1227G>A (p.Leu409=) c.*493G>A (n.*493G>A) c.1224G>A (p.Leu408=) c.1287G>A (p.Leu429=) n.220G>A c.1290G>A (p.Leu430=) c.1218G>A (p.Leu406=) c.1182G>A (p.Leu394=) c.1179G>A (p.Leu393=) c.609G>A (p.Leu203=) n.1772-2561C>T c.1134G>A (p.Leu378=) c.642G>A (p.Leu214=) | |
2 | g.27364864A= | CA1240242952 | EIF2B4,GTF3C2-AS2 | c.1226T= (p.Leu409=) c.*492T= (n.*492T=) c.1223T= (p.Leu408=) c.1286T= (p.Leu429=) n.219T= c.1289T= (p.Leu430=) c.1217T= (p.Leu406=) c.1181T= (p.Leu394=) c.1178T= (p.Leu393=) c.608T= (p.Leu203=) n.1772-2560A= c.1133T= (p.Leu378=) c.641T= (p.Leu214=) | |
2 | g.27364864A>C | CA346197277 | EIF2B4,GTF3C2-AS2 | c.1226T>G (p.Leu409Trp) c.*492T>G (n.*492T>G) c.1223T>G (p.Leu408Trp) c.1286T>G (p.Leu429Trp) n.219T>G c.1289T>G (p.Leu430Trp) c.1217T>G (p.Leu406Trp) c.1181T>G (p.Leu394Trp) c.1178T>G (p.Leu393Trp) c.608T>G (p.Leu203Trp) n.1772-2560A>C c.1133T>G (p.Leu378Trp) c.641T>G (p.Leu214Trp) | |
2 | g.27364864A>G | CA346197279 | EIF2B4,GTF3C2-AS2 | c.1226T>C (p.Leu409Ser) c.*492T>C (n.*492T>C) c.1223T>C (p.Leu408Ser) c.1286T>C (p.Leu429Ser) n.219T>C c.1289T>C (p.Leu430Ser) c.1217T>C (p.Leu406Ser) c.1181T>C (p.Leu394Ser) c.1178T>C (p.Leu393Ser) c.608T>C (p.Leu203Ser) n.1772-2560A>G c.1133T>C (p.Leu378Ser) c.641T>C (p.Leu214Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364864A>T | CA346197280 | EIF2B4,GTF3C2-AS2 | c.1226T>A (p.Leu409Ter) c.*492T>A (n.*492T>A) c.1223T>A (p.Leu408Ter) c.1286T>A (p.Leu429Ter) n.219T>A c.1289T>A (p.Leu430Ter) c.1217T>A (p.Leu406Ter) c.1181T>A (p.Leu394Ter) c.1178T>A (p.Leu393Ter) c.608T>A (p.Leu203Ter) n.1772-2560A>T c.1133T>A (p.Leu378Ter) c.641T>A (p.Leu214Ter) | |
2 | g.27364865A= | CA1240242953 | EIF2B4,GTF3C2-AS2 | c.1225T= (p.Leu409=) c.*491T= (n.*491T=) c.1222T= (p.Leu408=) c.1285T= (p.Leu429=) n.218T= c.1288T= (p.Leu430=) c.1216T= (p.Leu406=) c.1180T= (p.Leu394=) c.1177T= (p.Leu393=) c.607T= (p.Leu203=) n.1772-2559A= c.1132T= (p.Leu378=) c.640T= (p.Leu214=) | |
2 | g.27364865A>C | CA346197282 | EIF2B4,GTF3C2-AS2 | c.1225T>G (p.Leu409Val) c.*491T>G (n.*491T>G) c.1222T>G (p.Leu408Val) c.1285T>G (p.Leu429Val) n.218T>G c.1288T>G (p.Leu430Val) c.1216T>G (p.Leu406Val) c.1180T>G (p.Leu394Val) c.1177T>G (p.Leu393Val) c.607T>G (p.Leu203Val) n.1772-2559A>C c.1132T>G (p.Leu378Val) c.640T>G (p.Leu214Val) | |
2 | g.27364865A>G | CA44509722 | EIF2B4,GTF3C2-AS2 | c.1225T>C (p.Leu409=) c.*491T>C (n.*491T>C) c.1222T>C (p.Leu408=) c.1285T>C (p.Leu429=) n.218T>C c.1288T>C (p.Leu430=) c.1216T>C (p.Leu406=) c.1180T>C (p.Leu394=) c.1177T>C (p.Leu393=) c.607T>C (p.Leu203=) n.1772-2559A>G c.1132T>C (p.Leu378=) c.640T>C (p.Leu214=) | dbSNP |
2 | g.27364865A>T | CA346197283 | EIF2B4,GTF3C2-AS2 | c.1225T>A (p.Leu409Met) c.*491T>A (n.*491T>A) c.1222T>A (p.Leu408Met) c.1285T>A (p.Leu429Met) n.218T>A c.1288T>A (p.Leu430Met) c.1216T>A (p.Leu406Met) c.1180T>A (p.Leu394Met) c.1177T>A (p.Leu393Met) c.607T>A (p.Leu203Met) n.1772-2559A>T c.1132T>A (p.Leu378Met) c.640T>A (p.Leu214Met) | |
2 | g.27364866G>A | CA425410385 | EIF2B4,GTF3C2-AS2 | c.1224C>T (p.Leu408=) c.*490C>T (n.*490C>T) c.1221C>T (p.Leu407=) c.1284C>T (p.Leu428=) n.217C>T c.1287C>T (p.Leu429=) c.1215C>T (p.Leu405=) c.1179C>T (p.Leu393=) c.1176C>T (p.Leu392=) c.606C>T (p.Leu202=) n.1772-2558G>A c.1131C>T (p.Leu377=) c.639C>T (p.Leu213=) | |
2 | g.27364866G>C | CA425410381 | EIF2B4,GTF3C2-AS2 | c.1224C>G (p.Leu408=) c.*490C>G (n.*490C>G) c.1221C>G (p.Leu407=) c.1284C>G (p.Leu428=) n.217C>G c.1287C>G (p.Leu429=) c.1215C>G (p.Leu405=) c.1179C>G (p.Leu393=) c.1176C>G (p.Leu392=) c.606C>G (p.Leu202=) n.1772-2558G>C c.1131C>G (p.Leu377=) c.639C>G (p.Leu213=) | |
2 | g.27364866G>T | CA425410382 | EIF2B4,GTF3C2-AS2 | c.1224C>A (p.Leu408=) c.*490C>A (n.*490C>A) c.1221C>A (p.Leu407=) c.1284C>A (p.Leu428=) n.217C>A c.1287C>A (p.Leu429=) c.1215C>A (p.Leu405=) c.1179C>A (p.Leu393=) c.1176C>A (p.Leu392=) c.606C>A (p.Leu202=) n.1772-2558G>T c.1131C>A (p.Leu377=) c.639C>A (p.Leu213=) | |
2 | g.27364867A>C | CA346197284 | EIF2B4,GTF3C2-AS2 | c.1223T>G (p.Leu408Arg) c.*489T>G (n.*489T>G) c.1220T>G (p.Leu407Arg) c.1283T>G (p.Leu428Arg) n.216T>G c.1286T>G (p.Leu429Arg) c.1214T>G (p.Leu405Arg) c.1178T>G (p.Leu393Arg) c.1175T>G (p.Leu392Arg) c.605T>G (p.Leu202Arg) n.1772-2557A>C c.1130T>G (p.Leu377Arg) c.638T>G (p.Leu213Arg) | |
2 | g.27364867A>G | CA346197286 | EIF2B4,GTF3C2-AS2 | c.1223T>C (p.Leu408Pro) c.*489T>C (n.*489T>C) c.1220T>C (p.Leu407Pro) c.1283T>C (p.Leu428Pro) n.216T>C c.1286T>C (p.Leu429Pro) c.1214T>C (p.Leu405Pro) c.1178T>C (p.Leu393Pro) c.1175T>C (p.Leu392Pro) c.605T>C (p.Leu202Pro) n.1772-2557A>G c.1130T>C (p.Leu377Pro) c.638T>C (p.Leu213Pro) | |
2 | g.27364867A>T | CA346197287 | EIF2B4,GTF3C2-AS2 | c.1223T>A (p.Leu408His) c.*489T>A (n.*489T>A) c.1220T>A (p.Leu407His) c.1283T>A (p.Leu428His) n.216T>A c.1286T>A (p.Leu429His) c.1214T>A (p.Leu405His) c.1178T>A (p.Leu393His) c.1175T>A (p.Leu392His) c.605T>A (p.Leu202His) n.1772-2557A>T c.1130T>A (p.Leu377His) c.638T>A (p.Leu213His) | |
2 | g.27364868G>A | CA346197290 | EIF2B4,GTF3C2-AS2 | c.1222C>T (p.Leu408Phe) c.*488C>T (n.*488C>T) c.1219C>T (p.Leu407Phe) c.1282C>T (p.Leu428Phe) n.215C>T c.1285C>T (p.Leu429Phe) c.1213C>T (p.Leu405Phe) c.1177C>T (p.Leu393Phe) c.1174C>T (p.Leu392Phe) c.604C>T (p.Leu202Phe) n.1772-2556G>A c.1129C>T (p.Leu377Phe) c.637C>T (p.Leu213Phe) | gnomAD v4 |
2 | g.27364868G>C | CA346197291 | EIF2B4,GTF3C2-AS2 | c.1222C>G (p.Leu408Val) c.*488C>G (n.*488C>G) c.1219C>G (p.Leu407Val) c.1282C>G (p.Leu428Val) n.215C>G c.1285C>G (p.Leu429Val) c.1213C>G (p.Leu405Val) c.1177C>G (p.Leu393Val) c.1174C>G (p.Leu392Val) c.604C>G (p.Leu202Val) n.1772-2556G>C c.1129C>G (p.Leu377Val) c.637C>G (p.Leu213Val) | |
2 | g.27364868G>T | CA346197289 | EIF2B4,GTF3C2-AS2 | c.1222C>A (p.Leu408Ile) c.*488C>A (n.*488C>A) c.1219C>A (p.Leu407Ile) c.1282C>A (p.Leu428Ile) n.215C>A c.1285C>A (p.Leu429Ile) c.1213C>A (p.Leu405Ile) c.1177C>A (p.Leu393Ile) c.1174C>A (p.Leu392Ile) c.604C>A (p.Leu202Ile) n.1772-2556G>T c.1129C>A (p.Leu377Ile) c.637C>A (p.Leu213Ile) | |
2 | g.27364869T>A | CA425410390 | EIF2B4,GTF3C2-AS2 | c.1221A>T (p.Ala407=) c.*487A>T (n.*487A>T) c.1218A>T (p.Ala406=) c.1281A>T (p.Ala427=) n.214A>T c.1284A>T (p.Ala428=) c.1212A>T (p.Ala404=) c.1176A>T (p.Ala392=) c.1173A>T (p.Ala391=) c.603A>T (p.Ala201=) n.1772-2555T>A c.1128A>T (p.Ala376=) c.636A>T (p.Ala212=) | |
2 | g.27364869T>C | CA425410391 | EIF2B4,GTF3C2-AS2 | c.1221A>G (p.Ala407=) c.*487A>G (n.*487A>G) c.1218A>G (p.Ala406=) c.1281A>G (p.Ala427=) n.214A>G c.1284A>G (p.Ala428=) c.1212A>G (p.Ala404=) c.1176A>G (p.Ala392=) c.1173A>G (p.Ala391=) c.603A>G (p.Ala201=) n.1772-2555T>C c.1128A>G (p.Ala376=) c.636A>G (p.Ala212=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364869T>G | CA425410392 | EIF2B4,GTF3C2-AS2 | c.1221A>C (p.Ala407=) c.*487A>C (n.*487A>C) c.1218A>C (p.Ala406=) c.1281A>C (p.Ala427=) n.214A>C c.1284A>C (p.Ala428=) c.1212A>C (p.Ala404=) c.1176A>C (p.Ala392=) c.1173A>C (p.Ala391=) c.603A>C (p.Ala201=) n.1772-2555T>G c.1128A>C (p.Ala376=) c.636A>C (p.Ala212=) | |
2 | g.27364869T= | CA1240242954 | EIF2B4,GTF3C2-AS2 | c.1221A= (p.Ala407=) c.*487A= (n.*487A=) c.1218A= (p.Ala406=) c.1281A= (p.Ala427=) n.214A= c.1284A= (p.Ala428=) c.1212A= (p.Ala404=) c.1176A= (p.Ala392=) c.1173A= (p.Ala391=) c.603A= (p.Ala201=) n.1772-2555T= c.1128A= (p.Ala376=) c.636A= (p.Ala212=) | |
2 | g.27364870G>A | CA346197293 | EIF2B4,GTF3C2-AS2 | c.1220C>T (p.Ala407Val) c.*486C>T (n.*486C>T) c.1217C>T (p.Ala406Val) c.1280C>T (p.Ala427Val) n.213C>T c.1283C>T (p.Ala428Val) c.1211C>T (p.Ala404Val) c.1175C>T (p.Ala392Val) c.1172C>T (p.Ala391Val) c.602C>T (p.Ala201Val) n.1772-2554G>A c.1127C>T (p.Ala376Val) c.635C>T (p.Ala212Val) | dbSNP |
2 | g.27364870G>C | CA346197296 | EIF2B4,GTF3C2-AS2 | c.1220C>G (p.Ala407Gly) c.*486C>G (n.*486C>G) c.1217C>G (p.Ala406Gly) c.1280C>G (p.Ala427Gly) n.213C>G c.1283C>G (p.Ala428Gly) c.1211C>G (p.Ala404Gly) c.1175C>G (p.Ala392Gly) c.1172C>G (p.Ala391Gly) c.602C>G (p.Ala201Gly) n.1772-2554G>C c.1127C>G (p.Ala376Gly) c.635C>G (p.Ala212Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27364870G= | CA1240242955 | EIF2B4,GTF3C2-AS2 | c.1220C= (p.Ala407=) c.*486C= (n.*486C=) c.1217C= (p.Ala406=) c.1280C= (p.Ala427=) n.213C= c.1283C= (p.Ala428=) c.1211C= (p.Ala404=) c.1175C= (p.Ala392=) c.1172C= (p.Ala391=) c.602C= (p.Ala201=) n.1772-2554G= c.1127C= (p.Ala376=) c.635C= (p.Ala212=) | |
2 | g.27364870G>T | CA346197295 | EIF2B4,GTF3C2-AS2 | c.1220C>A (p.Ala407Glu) c.*486C>A (n.*486C>A) c.1217C>A (p.Ala406Glu) c.1280C>A (p.Ala427Glu) n.213C>A c.1283C>A (p.Ala428Glu) c.1211C>A (p.Ala404Glu) c.1175C>A (p.Ala392Glu) c.1172C>A (p.Ala391Glu) c.602C>A (p.Ala201Glu) n.1772-2554G>T c.1127C>A (p.Ala376Glu) c.635C>A (p.Ala212Glu) | |
2 | g.27364871C>A | CA346197297 | EIF2B4,GTF3C2-AS2 | c.1219G>T (p.Ala407Ser) c.*485G>T (n.*485G>T) c.1216G>T (p.Ala406Ser) c.1279G>T (p.Ala427Ser) n.212G>T c.1282G>T (p.Ala428Ser) c.1210G>T (p.Ala404Ser) c.1174G>T (p.Ala392Ser) c.1171G>T (p.Ala391Ser) c.601G>T (p.Ala201Ser) n.1772-2553C>A c.1126G>T (p.Ala376Ser) c.634G>T (p.Ala212Ser) | |
2 | g.27364871C>G | CA346197298 | EIF2B4,GTF3C2-AS2 | c.1219G>C (p.Ala407Pro) c.*485G>C (n.*485G>C) c.1216G>C (p.Ala406Pro) c.1279G>C (p.Ala427Pro) n.212G>C c.1282G>C (p.Ala428Pro) c.1210G>C (p.Ala404Pro) c.1174G>C (p.Ala392Pro) c.1171G>C (p.Ala391Pro) c.601G>C (p.Ala201Pro) n.1772-2553C>G c.1126G>C (p.Ala376Pro) c.634G>C (p.Ala212Pro) | |
2 | g.27364871C>T | CA346197300 | EIF2B4,GTF3C2-AS2 | c.1219G>A (p.Ala407Thr) c.*485G>A (n.*485G>A) c.1216G>A (p.Ala406Thr) c.1279G>A (p.Ala427Thr) n.212G>A c.1282G>A (p.Ala428Thr) c.1210G>A (p.Ala404Thr) c.1174G>A (p.Ala392Thr) c.1171G>A (p.Ala391Thr) c.601G>A (p.Ala201Thr) n.1772-2553C>T c.1126G>A (p.Ala376Thr) c.634G>A (p.Ala212Thr) | |
2 | g.27364872A= | CA1240242956 | EIF2B4,GTF3C2-AS2 | c.1218T= (p.His406=) c.*484T= (n.*484T=) c.1215T= (p.His405=) c.1278T= (p.His426=) n.211T= c.1281T= (p.His427=) c.1209T= (p.His403=) c.1173T= (p.His391=) c.1170T= (p.His390=) c.600T= (p.His200=) n.1772-2552A= c.1125T= (p.His375=) c.633T= (p.His211=) | |
2 | g.27364872A>C | CA346197302 | EIF2B4,GTF3C2-AS2 | c.1218T>G (p.His406Gln) c.*484T>G (n.*484T>G) c.1215T>G (p.His405Gln) c.1278T>G (p.His426Gln) n.211T>G c.1281T>G (p.His427Gln) c.1209T>G (p.His403Gln) c.1173T>G (p.His391Gln) c.1170T>G (p.His390Gln) c.600T>G (p.His200Gln) n.1772-2552A>C c.1125T>G (p.His375Gln) c.633T>G (p.His211Gln) | |
2 | g.27364872A>G | CA1576616 | EIF2B4,GTF3C2-AS2 | c.1218T>C (p.His406=) c.*484T>C (n.*484T>C) c.1215T>C (p.His405=) c.1278T>C (p.His426=) n.211T>C c.1281T>C (p.His427=) c.1209T>C (p.His403=) c.1173T>C (p.His391=) c.1170T>C (p.His390=) c.600T>C (p.His200=) n.1772-2552A>G c.1125T>C (p.His375=) c.633T>C (p.His211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364872A>T | CA44509723 | EIF2B4,GTF3C2-AS2 | c.1218T>A (p.His406Gln) c.*484T>A (n.*484T>A) c.1215T>A (p.His405Gln) c.1278T>A (p.His426Gln) n.211T>A c.1281T>A (p.His427Gln) c.1209T>A (p.His403Gln) c.1173T>A (p.His391Gln) c.1170T>A (p.His390Gln) c.600T>A (p.His200Gln) n.1772-2552A>T c.1125T>A (p.His375Gln) c.633T>A (p.His211Gln) | dbSNP gnomAD v4 |
2 | g.27364873T>A | CA346197306 | EIF2B4,GTF3C2-AS2 | c.1217A>T (p.His406Leu) c.*483A>T (n.*483A>T) c.1214A>T (p.His405Leu) c.1277A>T (p.His426Leu) n.210A>T c.1280A>T (p.His427Leu) c.1208A>T (p.His403Leu) c.1172A>T (p.His391Leu) c.1169A>T (p.His390Leu) c.599A>T (p.His200Leu) n.1772-2551T>A c.1124A>T (p.His375Leu) c.632A>T (p.His211Leu) | |
2 | g.27364873T>C | CA346197307 | EIF2B4,GTF3C2-AS2 | c.1217A>G (p.His406Arg) c.*483A>G (n.*483A>G) c.1214A>G (p.His405Arg) c.1277A>G (p.His426Arg) n.210A>G c.1280A>G (p.His427Arg) c.1208A>G (p.His403Arg) c.1172A>G (p.His391Arg) c.1169A>G (p.His390Arg) c.599A>G (p.His200Arg) n.1772-2551T>C c.1124A>G (p.His375Arg) c.632A>G (p.His211Arg) | gnomAD v4 |
2 | g.27364873T>G | CA346197309 | EIF2B4,GTF3C2-AS2 | c.1217A>C (p.His406Pro) c.*483A>C (n.*483A>C) c.1214A>C (p.His405Pro) c.1277A>C (p.His426Pro) n.210A>C c.1280A>C (p.His427Pro) c.1208A>C (p.His403Pro) c.1172A>C (p.His391Pro) c.1169A>C (p.His390Pro) c.599A>C (p.His200Pro) n.1772-2551T>G c.1124A>C (p.His375Pro) c.632A>C (p.His211Pro) | |
2 | g.27364874G>A | CA346197310 | EIF2B4,GTF3C2-AS2 | c.1216C>T (p.His406Tyr) c.*482C>T (n.*482C>T) c.1213C>T (p.His405Tyr) c.1276C>T (p.His426Tyr) n.209C>T c.1279C>T (p.His427Tyr) c.1207C>T (p.His403Tyr) c.1171C>T (p.His391Tyr) c.1168C>T (p.His390Tyr) c.598C>T (p.His200Tyr) n.1772-2550G>A c.1123C>T (p.His375Tyr) c.631C>T (p.His211Tyr) | gnomAD v4 COSMIC COSMIC |
2 | g.27364874G>C | CA346197312 | EIF2B4,GTF3C2-AS2 | c.1216C>G (p.His406Asp) c.*482C>G (n.*482C>G) c.1213C>G (p.His405Asp) c.1276C>G (p.His426Asp) n.209C>G c.1279C>G (p.His427Asp) c.1207C>G (p.His403Asp) c.1171C>G (p.His391Asp) c.1168C>G (p.His390Asp) c.598C>G (p.His200Asp) n.1772-2550G>C c.1123C>G (p.His375Asp) c.631C>G (p.His211Asp) | gnomAD v4 |
2 | g.27364874G>T | CA346197314 | EIF2B4,GTF3C2-AS2 | c.1216C>A (p.His406Asn) c.*482C>A (n.*482C>A) c.1213C>A (p.His405Asn) c.1276C>A (p.His426Asn) n.209C>A c.1279C>A (p.His427Asn) c.1207C>A (p.His403Asn) c.1171C>A (p.His391Asn) c.1168C>A (p.His390Asn) c.598C>A (p.His200Asn) n.1772-2550G>T c.1123C>A (p.His375Asn) c.631C>A (p.His211Asn) | gnomAD v4 |
2 | g.27364875A>C | CA425410400 | EIF2B4,GTF3C2-AS2 | c.1215T>G (p.Ala405=) c.*481T>G (n.*481T>G) c.1212T>G (p.Ala404=) c.1275T>G (p.Ala425=) n.208T>G c.1278T>G (p.Ala426=) c.1206T>G (p.Ala402=) c.1170T>G (p.Ala390=) c.1167T>G (p.Ala389=) c.597T>G (p.Ala199=) n.1772-2549A>C c.1122T>G (p.Ala374=) c.630T>G (p.Ala210=) | |
2 | g.27364875A>G | CA425410402 | EIF2B4,GTF3C2-AS2 | c.1215T>C (p.Ala405=) c.*481T>C (n.*481T>C) c.1212T>C (p.Ala404=) c.1275T>C (p.Ala425=) n.208T>C c.1278T>C (p.Ala426=) c.1206T>C (p.Ala402=) c.1170T>C (p.Ala390=) c.1167T>C (p.Ala389=) c.597T>C (p.Ala199=) n.1772-2549A>G c.1122T>C (p.Ala374=) c.630T>C (p.Ala210=) | |
2 | g.27364875A>T | CA425410403 | EIF2B4,GTF3C2-AS2 | c.1215T>A (p.Ala405=) c.*481T>A (n.*481T>A) c.1212T>A (p.Ala404=) c.1275T>A (p.Ala425=) n.208T>A c.1278T>A (p.Ala426=) c.1206T>A (p.Ala402=) c.1170T>A (p.Ala390=) c.1167T>A (p.Ala389=) c.597T>A (p.Ala199=) n.1772-2549A>T c.1122T>A (p.Ala374=) c.630T>A (p.Ala210=) | |
2 | g.27364876G>A | CA346197319 | EIF2B4,GTF3C2-AS2 | c.1214C>T (p.Ala405Val) c.*480C>T (n.*480C>T) c.1211C>T (p.Ala404Val) c.1274C>T (p.Ala425Val) n.207C>T c.1277C>T (p.Ala426Val) c.1205C>T (p.Ala402Val) c.1169C>T (p.Ala390Val) c.1166C>T (p.Ala389Val) c.596C>T (p.Ala199Val) n.1772-2548G>A c.1121C>T (p.Ala374Val) c.629C>T (p.Ala210Val) | gnomAD v4 |
2 | g.27364876G>C | CA346197316 | EIF2B4,GTF3C2-AS2 | c.1214C>G (p.Ala405Gly) c.*480C>G (n.*480C>G) c.1211C>G (p.Ala404Gly) c.1274C>G (p.Ala425Gly) n.207C>G c.1277C>G (p.Ala426Gly) c.1205C>G (p.Ala402Gly) c.1169C>G (p.Ala390Gly) c.1166C>G (p.Ala389Gly) c.596C>G (p.Ala199Gly) n.1772-2548G>C c.1121C>G (p.Ala374Gly) c.629C>G (p.Ala210Gly) | |
2 | g.27364876G>T | CA346197317 | EIF2B4,GTF3C2-AS2 | c.1214C>A (p.Ala405Asp) c.*480C>A (n.*480C>A) c.1211C>A (p.Ala404Asp) c.1274C>A (p.Ala425Asp) n.207C>A c.1277C>A (p.Ala426Asp) c.1205C>A (p.Ala402Asp) c.1169C>A (p.Ala390Asp) c.1166C>A (p.Ala389Asp) c.596C>A (p.Ala199Asp) n.1772-2548G>T c.1121C>A (p.Ala374Asp) c.629C>A (p.Ala210Asp) |