Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.184321997_184322005dup | CA2732181 | EIF2B5,EIF4G1 | c.1413_1421dup (p.Ala474_Glu475insGlyGluAla) c.1347_1355dup (p.Ala452_Glu453insGlyGluAla) c.783_791dup (p.Ala264_Glu265insGlyGluAla) c.825_833dup (p.Ala278_Glu279insGlyGluAla) c.921_929dup (p.Ala310_Glu311insGlyGluAla) c.1434_1442dup (p.Ala481_Glu482insGlyGluAla) c.1152_1160dup (p.Ala387_Glu388insGlyGluAla) c.1293_1301dup (p.Ala434_Glu435insGlyGluAla) c.*920_*928dup (n.*920_*928dup) c.1236_1244dup (p.Ala415_Glu416insGlyGluAla) c.*852_*860dup (n.*852_*860dup) c.2106+177290_2106+177298dup (n.2106+177290_2106+177298dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184321997_184322005del | CA2732179 | EIF2B5,EIF4G1 | c.1413_1421del (p.Gly472_Ala474del) c.1347_1355del (p.Gly450_Ala452del) c.783_791del (p.Gly262_Ala264del) c.825_833del (p.Gly276_Ala278del) c.921_929del (p.Gly308_Ala310del) c.1434_1442del (p.Gly479_Ala481del) c.1152_1160del (p.Gly385_Ala387del) c.1293_1301del (p.Gly432_Ala434del) c.*920_*928del (n.*920_*928del) c.1236_1244del (p.Gly413_Ala415del) c.*852_*860del (n.*852_*860del) c.2106+177290_2106+177298del (n.2106+177290_2106+177298del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184321987_184321992del | CA2732184 | EIF2B5,EIF4G1 | c.1403_1408del (p.Ala468_Gly469del) c.1337_1342del (p.Ala446_Gly447del) c.773_778del (p.Ala258_Gly259del) c.815_820del (p.Ala272_Gly273del) c.911_916del (p.Ala304_Gly305del) c.1424_1429del (p.Ala475_Gly476del) c.1142_1147del (p.Ala381_Gly382del) c.1283_1288del (p.Ala428_Gly429del) c.*910_*915del (n.*910_*915del) c.1226_1231del (p.Ala409_Gly410del) c.*842_*847del (n.*842_*847del) c.2106+177280_2106+177285del (n.2106+177280_2106+177285del) | dbSNP ExAC |
3 | g.184321991A>C | CA437329617 | EIF2B5,EIF4G1 | c.1407A>C (p.Gly469=) c.1341A>C (p.Gly447=) c.777A>C (p.Gly259=) c.819A>C (p.Gly273=) c.915A>C (p.Gly305=) c.1428A>C (p.Gly476=) c.1146A>C (p.Gly382=) c.1287A>C (p.Gly429=) c.*914A>C (n.*914A>C) c.1230A>C (p.Gly410=) c.*846A>C (n.*846A>C) c.2106+177284A>C (n.2106+177284A>C) | |
3 | g.184321991A>G | CA437329613 | EIF2B5,EIF4G1 | c.1407A>G (p.Gly469=) c.1341A>G (p.Gly447=) c.777A>G (p.Gly259=) c.819A>G (p.Gly273=) c.915A>G (p.Gly305=) c.1428A>G (p.Gly476=) c.1146A>G (p.Gly382=) c.1287A>G (p.Gly429=) c.*914A>G (n.*914A>G) c.1230A>G (p.Gly410=) c.*846A>G (n.*846A>G) c.2106+177284A>G (n.2106+177284A>G) | |
3 | g.184321991A>T | CA437329615 | EIF2B5,EIF4G1 | c.1407A>T (p.Gly469=) c.1341A>T (p.Gly447=) c.777A>T (p.Gly259=) c.819A>T (p.Gly273=) c.915A>T (p.Gly305=) c.1428A>T (p.Gly476=) c.1146A>T (p.Gly382=) c.1287A>T (p.Gly429=) c.*914A>T (n.*914A>T) c.1230A>T (p.Gly410=) c.*846A>T (n.*846A>T) c.2106+177284A>T (n.2106+177284A>T) | |
3 | g.184321992G>A | CA355390010 | EIF2B5,EIF4G1 | c.1408G>A (p.Glu470Lys) c.1342G>A (p.Glu448Lys) c.778G>A (p.Glu260Lys) c.820G>A (p.Glu274Lys) c.916G>A (p.Glu306Lys) c.1429G>A (p.Glu477Lys) c.1147G>A (p.Glu383Lys) c.1288G>A (p.Glu430Lys) c.*915G>A (n.*915G>A) c.1231G>A (p.Glu411Lys) c.*847G>A (n.*847G>A) c.2106+177285G>A (n.2106+177285G>A) | |
3 | g.184321992G>C | CA355390001 | EIF2B5,EIF4G1 | c.1408G>C (p.Glu470Gln) c.1342G>C (p.Glu448Gln) c.778G>C (p.Glu260Gln) c.820G>C (p.Glu274Gln) c.916G>C (p.Glu306Gln) c.1429G>C (p.Glu477Gln) c.1147G>C (p.Glu383Gln) c.1288G>C (p.Glu430Gln) c.*915G>C (n.*915G>C) c.1231G>C (p.Glu411Gln) c.*847G>C (n.*847G>C) c.2106+177285G>C (n.2106+177285G>C) | |
3 | g.184321992G>T | CA355390007 | EIF2B5,EIF4G1 | c.1408G>T (p.Glu470Ter) c.1342G>T (p.Glu448Ter) c.778G>T (p.Glu260Ter) c.820G>T (p.Glu274Ter) c.916G>T (p.Glu306Ter) c.1429G>T (p.Glu477Ter) c.1147G>T (p.Glu383Ter) c.1288G>T (p.Glu430Ter) c.*915G>T (n.*915G>T) c.1231G>T (p.Glu411Ter) c.*847G>T (n.*847G>T) c.2106+177285G>T (n.2106+177285G>T) | |
3 | g.184321992_184321999del | CA2668830465 | EIF2B5,EIF4G1 | c.1408_1415del (p.Glu470ArgfsTer3) c.1342_1349del (p.Glu448ArgfsTer3) c.778_785del (p.Glu260ArgfsTer3) c.820_827del (p.Glu274ArgfsTer3) c.916_923del (p.Glu306ArgfsTer3) c.1429_1436del (p.Glu477ArgfsTer3) c.1147_1154del (p.Glu383ArgfsTer3) c.1288_1295del (p.Glu430ArgfsTer3) c.*915_*922del (n.*915_*922del) c.1231_1238del (p.Glu411ArgfsTer3) c.*847_*854del (n.*847_*854del) c.2106+177285_2106+177292del (n.2106+177285_2106+177292del) | gnomAD v4 |
3 | g.184321993A>C | CA355390013 | EIF2B5,EIF4G1 | c.1409A>C (p.Glu470Ala) c.1343A>C (p.Glu448Ala) c.779A>C (p.Glu260Ala) c.821A>C (p.Glu274Ala) c.917A>C (p.Glu306Ala) c.1430A>C (p.Glu477Ala) c.1148A>C (p.Glu383Ala) c.1289A>C (p.Glu430Ala) c.*916A>C (n.*916A>C) c.1232A>C (p.Glu411Ala) c.*848A>C (n.*848A>C) c.2106+177286A>C (n.2106+177286A>C) | |
3 | g.184321993A>G | CA355390023 | EIF2B5,EIF4G1 | c.1409A>G (p.Glu470Gly) c.1343A>G (p.Glu448Gly) c.779A>G (p.Glu260Gly) c.821A>G (p.Glu274Gly) c.917A>G (p.Glu306Gly) c.1430A>G (p.Glu477Gly) c.1148A>G (p.Glu383Gly) c.1289A>G (p.Glu430Gly) c.*916A>G (n.*916A>G) c.1232A>G (p.Glu411Gly) c.*848A>G (n.*848A>G) c.2106+177286A>G (n.2106+177286A>G) | |
3 | g.184321993A>T | CA355390035 | EIF2B5,EIF4G1 | c.1409A>T (p.Glu470Val) c.1343A>T (p.Glu448Val) c.779A>T (p.Glu260Val) c.821A>T (p.Glu274Val) c.917A>T (p.Glu306Val) c.1430A>T (p.Glu477Val) c.1148A>T (p.Glu383Val) c.1289A>T (p.Glu430Val) c.*916A>T (n.*916A>T) c.1232A>T (p.Glu411Val) c.*848A>T (n.*848A>T) c.2106+177286A>T (n.2106+177286A>T) | |
3 | g.184321994A= | CA1425953065 | EIF2B5,EIF4G1 | c.1410A= (p.Glu470=) c.1344A= (p.Glu448=) c.780A= (p.Glu260=) c.822A= (p.Glu274=) c.918A= (p.Glu306=) c.1431A= (p.Glu477=) c.1149A= (p.Glu383=) c.1290A= (p.Glu430=) c.*917A= (n.*917A=) c.1233A= (p.Glu411=) c.*849A= (n.*849A=) c.2106+177287A= (n.2106+177287A=) | |
3 | g.184321994A>C | CA355390046 | EIF2B5,EIF4G1 | c.1410A>C (p.Glu470Asp) c.1344A>C (p.Glu448Asp) c.780A>C (p.Glu260Asp) c.822A>C (p.Glu274Asp) c.918A>C (p.Glu306Asp) c.1431A>C (p.Glu477Asp) c.1149A>C (p.Glu383Asp) c.1290A>C (p.Glu430Asp) c.*917A>C (n.*917A>C) c.1233A>C (p.Glu411Asp) c.*849A>C (n.*849A>C) c.2106+177287A>C (n.2106+177287A>C) | |
3 | g.184321994A>G | CA437329620 | EIF2B5,EIF4G1 | c.1410A>G (p.Glu470=) c.1344A>G (p.Glu448=) c.780A>G (p.Glu260=) c.822A>G (p.Glu274=) c.918A>G (p.Glu306=) c.1431A>G (p.Glu477=) c.1149A>G (p.Glu383=) c.1290A>G (p.Glu430=) c.*917A>G (n.*917A>G) c.1233A>G (p.Glu411=) c.*849A>G (n.*849A>G) c.2106+177287A>G (n.2106+177287A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184321994A>T | CA355390051 | EIF2B5,EIF4G1 | c.1410A>T (p.Glu470Asp) c.1344A>T (p.Glu448Asp) c.780A>T (p.Glu260Asp) c.822A>T (p.Glu274Asp) c.918A>T (p.Glu306Asp) c.1431A>T (p.Glu477Asp) c.1149A>T (p.Glu383Asp) c.1290A>T (p.Glu430Asp) c.*917A>T (n.*917A>T) c.1233A>T (p.Glu411Asp) c.*849A>T (n.*849A>T) c.2106+177287A>T (n.2106+177287A>T) | |
3 | g.184321995G>A | CA355390059 | EIF2B5,EIF4G1 | c.1411G>A (p.Ala471Thr) c.1345G>A (p.Ala449Thr) c.781G>A (p.Ala261Thr) c.823G>A (p.Ala275Thr) c.919G>A (p.Ala307Thr) c.1432G>A (p.Ala478Thr) c.1150G>A (p.Ala384Thr) c.1291G>A (p.Ala431Thr) c.*918G>A (n.*918G>A) c.1234G>A (p.Ala412Thr) c.*850G>A (n.*850G>A) c.2106+177288G>A (n.2106+177288G>A) | |
3 | g.184321995G>C | CA355390052 | EIF2B5,EIF4G1 | c.1411G>C (p.Ala471Pro) c.1345G>C (p.Ala449Pro) c.781G>C (p.Ala261Pro) c.823G>C (p.Ala275Pro) c.919G>C (p.Ala307Pro) c.1432G>C (p.Ala478Pro) c.1150G>C (p.Ala384Pro) c.1291G>C (p.Ala431Pro) c.*918G>C (n.*918G>C) c.1234G>C (p.Ala412Pro) c.*850G>C (n.*850G>C) c.2106+177288G>C (n.2106+177288G>C) | |
3 | g.184321995G>T | CA355390054 | EIF2B5,EIF4G1 | c.1411G>T (p.Ala471Ser) c.1345G>T (p.Ala449Ser) c.781G>T (p.Ala261Ser) c.823G>T (p.Ala275Ser) c.919G>T (p.Ala307Ser) c.1432G>T (p.Ala478Ser) c.1150G>T (p.Ala384Ser) c.1291G>T (p.Ala431Ser) c.*918G>T (n.*918G>T) c.1234G>T (p.Ala412Ser) c.*850G>T (n.*850G>T) c.2106+177288G>T (n.2106+177288G>T) | |
3 | g.184321996C>A | CA355390064 | EIF2B5,EIF4G1 | c.1412C>A (p.Ala471Glu) c.1346C>A (p.Ala449Glu) c.782C>A (p.Ala261Glu) c.824C>A (p.Ala275Glu) c.920C>A (p.Ala307Glu) c.1433C>A (p.Ala478Glu) c.1151C>A (p.Ala384Glu) c.1292C>A (p.Ala431Glu) c.*919C>A (n.*919C>A) c.1235C>A (p.Ala412Glu) c.*851C>A (n.*851C>A) c.2106+177289C>A (n.2106+177289C>A) | |
3 | g.184321996C= | CA1425953069 | EIF2B5,EIF4G1 | c.1412C= (p.Ala471=) c.1346C= (p.Ala449=) c.782C= (p.Ala261=) c.824C= (p.Ala275=) c.920C= (p.Ala307=) c.1433C= (p.Ala478=) c.1151C= (p.Ala384=) c.1292C= (p.Ala431=) c.*919C= (n.*919C=) c.1235C= (p.Ala412=) c.*851C= (n.*851C=) c.2106+177289C= (n.2106+177289C=) | |
3 | g.184321996C>G | CA355390080 | EIF2B5,EIF4G1 | c.1412C>G (p.Ala471Gly) c.1346C>G (p.Ala449Gly) c.782C>G (p.Ala261Gly) c.824C>G (p.Ala275Gly) c.920C>G (p.Ala307Gly) c.1433C>G (p.Ala478Gly) c.1151C>G (p.Ala384Gly) c.1292C>G (p.Ala431Gly) c.*919C>G (n.*919C>G) c.1235C>G (p.Ala412Gly) c.*851C>G (n.*851C>G) c.2106+177289C>G (n.2106+177289C>G) | dbSNP gnomAD v2 |
3 | g.184321996C>T | CA355390082 | EIF2B5,EIF4G1 | c.1412C>T (p.Ala471Val) c.1346C>T (p.Ala449Val) c.782C>T (p.Ala261Val) c.824C>T (p.Ala275Val) c.920C>T (p.Ala307Val) c.1433C>T (p.Ala478Val) c.1151C>T (p.Ala384Val) c.1292C>T (p.Ala431Val) c.*919C>T (n.*919C>T) c.1235C>T (p.Ala412Val) c.*851C>T (n.*851C>T) c.2106+177289C>T (n.2106+177289C>T) | |
3 | g.184321997A>C | CA437329625 | EIF2B5,EIF4G1 | c.1413A>C (p.Ala471=) c.1347A>C (p.Ala449=) c.783A>C (p.Ala261=) c.825A>C (p.Ala275=) c.921A>C (p.Ala307=) c.1434A>C (p.Ala478=) c.1152A>C (p.Ala384=) c.1293A>C (p.Ala431=) c.*920A>C (n.*920A>C) c.1236A>C (p.Ala412=) c.*852A>C (n.*852A>C) c.2106+177290A>C (n.2106+177290A>C) | |
3 | g.184321997A>G | CA437329622 | EIF2B5,EIF4G1 | c.1413A>G (p.Ala471=) c.1347A>G (p.Ala449=) c.783A>G (p.Ala261=) c.825A>G (p.Ala275=) c.921A>G (p.Ala307=) c.1434A>G (p.Ala478=) c.1152A>G (p.Ala384=) c.1293A>G (p.Ala431=) c.*920A>G (n.*920A>G) c.1236A>G (p.Ala412=) c.*852A>G (n.*852A>G) c.2106+177290A>G (n.2106+177290A>G) | gnomAD v4 |
3 | g.184321997A>T | CA437329623 | EIF2B5,EIF4G1 | c.1413A>T (p.Ala471=) c.1347A>T (p.Ala449=) c.783A>T (p.Ala261=) c.825A>T (p.Ala275=) c.921A>T (p.Ala307=) c.1434A>T (p.Ala478=) c.1152A>T (p.Ala384=) c.1293A>T (p.Ala431=) c.*920A>T (n.*920A>T) c.1236A>T (p.Ala412=) c.*852A>T (n.*852A>T) c.2106+177290A>T (n.2106+177290A>T) | dbSNP |
3 | g.184321999_184322001del | CA2668830466 | EIF2B5,EIF4G1 | c.1415_1417del (p.Gly472del) c.1349_1351del (p.Gly450del) c.785_787del (p.Gly262del) c.827_829del (p.Gly276del) c.923_925del (p.Gly308del) c.1436_1438del (p.Gly479del) c.1154_1156del (p.Gly385del) c.1295_1297del (p.Gly432del) c.*922_*924del (n.*922_*924del) c.1238_1240del (p.Gly413del) c.*854_*856del (n.*854_*856del) c.2106+177292_2106+177294del (n.2106+177292_2106+177294del) | gnomAD v4 |
3 | g.184321997_184322006delinsAGGAGAAGCT | CA1425953072 | EIF2B5,EIF4G1 | c.1413_1422delinsAGGAGAAGCT (p.Ala471=) c.1347_1356delinsAGGAGAAGCT (p.Ala449=) c.783_792delinsAGGAGAAGCT (p.Ala261=) c.825_834delinsAGGAGAAGCT (p.Ala275=) c.921_930delinsAGGAGAAGCT (p.Ala307=) c.1434_1443delinsAGGAGAAGCT (p.Ala478=) c.1152_1161delinsAGGAGAAGCT (p.Ala384=) c.1293_1302delinsAGGAGAAGCT (p.Ala431=) c.*920_*929delinsAGGAGAAGCT (n.*920_*929delinsAGGAGAAGCT) c.1236_1245delinsAGGAGAAGCT (p.Ala412=) c.*852_*861delinsAGGAGAAGCT (n.*852_*861delinsAGGAGAAGCT) c.2106+177290_2106+177299delinsAGGAGAAGCT (n.2106+177290_2106+177299delinsAGGAGAAGCT) | |
3 | g.184321998G>A | CA355390094 | EIF2B5,EIF4G1 | c.1414G>A (p.Gly472Arg) c.1348G>A (p.Gly450Arg) c.784G>A (p.Gly262Arg) c.826G>A (p.Gly276Arg) c.922G>A (p.Gly308Arg) c.1435G>A (p.Gly479Arg) c.1153G>A (p.Gly385Arg) c.1294G>A (p.Gly432Arg) c.*921G>A (n.*921G>A) c.1237G>A (p.Gly413Arg) c.*853G>A (n.*853G>A) c.2106+177291G>A (n.2106+177291G>A) | |
3 | g.184321998G>C | CA355390097 | EIF2B5,EIF4G1 | c.1414G>C (p.Gly472Arg) c.1348G>C (p.Gly450Arg) c.784G>C (p.Gly262Arg) c.826G>C (p.Gly276Arg) c.922G>C (p.Gly308Arg) c.1435G>C (p.Gly479Arg) c.1153G>C (p.Gly385Arg) c.1294G>C (p.Gly432Arg) c.*921G>C (n.*921G>C) c.1237G>C (p.Gly413Arg) c.*853G>C (n.*853G>C) c.2106+177291G>C (n.2106+177291G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184321998G= | CA1425953073 | EIF2B5,EIF4G1 | c.1414G= (p.Gly472=) c.1348G= (p.Gly450=) c.784G= (p.Gly262=) c.826G= (p.Gly276=) c.922G= (p.Gly308=) c.1435G= (p.Gly479=) c.1153G= (p.Gly385=) c.1294G= (p.Gly432=) c.*921G= (n.*921G=) c.1237G= (p.Gly413=) c.*853G= (n.*853G=) c.2106+177291G= (n.2106+177291G=) | |
3 | g.184321998G>T | CA355390100 | EIF2B5,EIF4G1 | c.1414G>T (p.Gly472Ter) c.1348G>T (p.Gly450Ter) c.784G>T (p.Gly262Ter) c.826G>T (p.Gly276Ter) c.922G>T (p.Gly308Ter) c.1435G>T (p.Gly479Ter) c.1153G>T (p.Gly385Ter) c.1294G>T (p.Gly432Ter) c.*921G>T (n.*921G>T) c.1237G>T (p.Gly413Ter) c.*853G>T (n.*853G>T) c.2106+177291G>T (n.2106+177291G>T) | |
3 | g.184321999_184322007del | CA2732186 | EIF2B5,EIF4G1 | c.1415_1423del (p.Gly472_Ala474del) c.1349_1357del (p.Gly450_Ala452del) c.785_793del (p.Gly262_Ala264del) c.827_835del (p.Gly276_Ala278del) c.923_931del (p.Gly308_Ala310del) c.1436_1444del (p.Gly479_Ala481del) c.1154_1162del (p.Gly385_Ala387del) c.1295_1303del (p.Gly432_Ala434del) c.*922_*930del (n.*922_*930del) c.1238_1246del (p.Gly413_Ala415del) c.*854_*862del (n.*854_*862del) c.2106+177292_2106+177300del (n.2106+177292_2106+177300del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184321999G>A | CA88863410 | EIF2B5,EIF4G1 | c.1415G>A (p.Gly472Glu) c.1349G>A (p.Gly450Glu) c.785G>A (p.Gly262Glu) c.827G>A (p.Gly276Glu) c.923G>A (p.Gly308Glu) c.1436G>A (p.Gly479Glu) c.1154G>A (p.Gly385Glu) c.1295G>A (p.Gly432Glu) c.*922G>A (n.*922G>A) c.1238G>A (p.Gly413Glu) c.*854G>A (n.*854G>A) c.2106+177292G>A (n.2106+177292G>A) | dbSNP |
3 | g.184321999G>C | CA355390121 | EIF2B5,EIF4G1 | c.1415G>C (p.Gly472Ala) c.1349G>C (p.Gly450Ala) c.785G>C (p.Gly262Ala) c.827G>C (p.Gly276Ala) c.923G>C (p.Gly308Ala) c.1436G>C (p.Gly479Ala) c.1154G>C (p.Gly385Ala) c.1295G>C (p.Gly432Ala) c.*922G>C (n.*922G>C) c.1238G>C (p.Gly413Ala) c.*854G>C (n.*854G>C) c.2106+177292G>C (n.2106+177292G>C) | |
3 | g.184321999G= | CA1425953075 | EIF2B5,EIF4G1 | c.1415G= (p.Gly472=) c.1349G= (p.Gly450=) c.785G= (p.Gly262=) c.827G= (p.Gly276=) c.923G= (p.Gly308=) c.1436G= (p.Gly479=) c.1154G= (p.Gly385=) c.1295G= (p.Gly432=) c.*922G= (n.*922G=) c.1238G= (p.Gly413=) c.*854G= (n.*854G=) c.2106+177292G= (n.2106+177292G=) | |
3 | g.184321999G>T | CA355390125 | EIF2B5,EIF4G1 | c.1415G>T (p.Gly472Val) c.1349G>T (p.Gly450Val) c.785G>T (p.Gly262Val) c.827G>T (p.Gly276Val) c.923G>T (p.Gly308Val) c.1436G>T (p.Gly479Val) c.1154G>T (p.Gly385Val) c.1295G>T (p.Gly432Val) c.*922G>T (n.*922G>T) c.1238G>T (p.Gly413Val) c.*854G>T (n.*854G>T) c.2106+177292G>T (n.2106+177292G>T) | |
3 | g.184322000A= | CA1425953078 | EIF2B5,EIF4G1 | c.1416A= (p.Gly472=) c.1350A= (p.Gly450=) c.786A= (p.Gly262=) c.828A= (p.Gly276=) c.924A= (p.Gly308=) c.1437A= (p.Gly479=) c.1155A= (p.Gly385=) c.1296A= (p.Gly432=) c.*923A= (n.*923A=) c.1239A= (p.Gly413=) c.*855A= (n.*855A=) c.2106+177293A= (n.2106+177293A=) | |
3 | g.184322000A>C | CA2732188 | EIF2B5,EIF4G1 | c.1416A>C (p.Gly472=) c.1350A>C (p.Gly450=) c.786A>C (p.Gly262=) c.828A>C (p.Gly276=) c.924A>C (p.Gly308=) c.1437A>C (p.Gly479=) c.1155A>C (p.Gly385=) c.1296A>C (p.Gly432=) c.*923A>C (n.*923A>C) c.1239A>C (p.Gly413=) c.*855A>C (n.*855A>C) c.2106+177293A>C (n.2106+177293A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184322000A>G | CA2732187 | EIF2B5,EIF4G1 | c.1416A>G (p.Gly472=) c.1350A>G (p.Gly450=) c.786A>G (p.Gly262=) c.828A>G (p.Gly276=) c.924A>G (p.Gly308=) c.1437A>G (p.Gly479=) c.1155A>G (p.Gly385=) c.1296A>G (p.Gly432=) c.*923A>G (n.*923A>G) c.1239A>G (p.Gly413=) c.*855A>G (n.*855A>G) c.2106+177293A>G (n.2106+177293A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322000A>T | CA437329630 | EIF2B5,EIF4G1 | c.1416A>T (p.Gly472=) c.1350A>T (p.Gly450=) c.786A>T (p.Gly262=) c.828A>T (p.Gly276=) c.924A>T (p.Gly308=) c.1437A>T (p.Gly479=) c.1155A>T (p.Gly385=) c.1296A>T (p.Gly432=) c.*923A>T (n.*923A>T) c.1239A>T (p.Gly413=) c.*855A>T (n.*855A>T) c.2106+177293A>T (n.2106+177293A>T) | |
3 | g.184322001G>A | CA355390133 | EIF2B5,EIF4G1 | c.1417G>A (p.Glu473Lys) c.1351G>A (p.Glu451Lys) c.787G>A (p.Glu263Lys) c.829G>A (p.Glu277Lys) c.925G>A (p.Glu309Lys) c.1438G>A (p.Glu480Lys) c.1156G>A (p.Glu386Lys) c.1297G>A (p.Glu433Lys) c.*924G>A (n.*924G>A) c.1240G>A (p.Glu414Lys) c.*856G>A (n.*856G>A) c.2106+177294G>A (n.2106+177294G>A) | |
3 | g.184322001G>C | CA355390130 | EIF2B5,EIF4G1 | c.1417G>C (p.Glu473Gln) c.1351G>C (p.Glu451Gln) c.787G>C (p.Glu263Gln) c.829G>C (p.Glu277Gln) c.925G>C (p.Glu309Gln) c.1438G>C (p.Glu480Gln) c.1156G>C (p.Glu386Gln) c.1297G>C (p.Glu433Gln) c.*924G>C (n.*924G>C) c.1240G>C (p.Glu414Gln) c.*856G>C (n.*856G>C) c.2106+177294G>C (n.2106+177294G>C) | |
3 | g.184322001G>T | CA355390131 | EIF2B5,EIF4G1 | c.1417G>T (p.Glu473Ter) c.1351G>T (p.Glu451Ter) c.787G>T (p.Glu263Ter) c.829G>T (p.Glu277Ter) c.925G>T (p.Glu309Ter) c.1438G>T (p.Glu480Ter) c.1156G>T (p.Glu386Ter) c.1297G>T (p.Glu433Ter) c.*924G>T (n.*924G>T) c.1240G>T (p.Glu414Ter) c.*856G>T (n.*856G>T) c.2106+177294G>T (n.2106+177294G>T) | |
3 | g.184322002A>C | CA355390140 | EIF2B5,EIF4G1 | c.1418A>C (p.Glu473Ala) c.1352A>C (p.Glu451Ala) c.788A>C (p.Glu263Ala) c.830A>C (p.Glu277Ala) c.926A>C (p.Glu309Ala) c.1439A>C (p.Glu480Ala) c.1157A>C (p.Glu386Ala) c.1298A>C (p.Glu433Ala) c.*925A>C (n.*925A>C) c.1241A>C (p.Glu414Ala) c.*857A>C (n.*857A>C) c.2106+177295A>C (n.2106+177295A>C) | |
3 | g.184322002A>G | CA355390142 | EIF2B5,EIF4G1 | c.1418A>G (p.Glu473Gly) c.1352A>G (p.Glu451Gly) c.788A>G (p.Glu263Gly) c.830A>G (p.Glu277Gly) c.926A>G (p.Glu309Gly) c.1439A>G (p.Glu480Gly) c.1157A>G (p.Glu386Gly) c.1298A>G (p.Glu433Gly) c.*925A>G (n.*925A>G) c.1241A>G (p.Glu414Gly) c.*857A>G (n.*857A>G) c.2106+177295A>G (n.2106+177295A>G) | gnomAD v4 |
3 | g.184322002A>T | CA355390148 | EIF2B5,EIF4G1 | c.1418A>T (p.Glu473Val) c.1352A>T (p.Glu451Val) c.788A>T (p.Glu263Val) c.830A>T (p.Glu277Val) c.926A>T (p.Glu309Val) c.1439A>T (p.Glu480Val) c.1157A>T (p.Glu386Val) c.1298A>T (p.Glu433Val) c.*925A>T (n.*925A>T) c.1241A>T (p.Glu414Val) c.*857A>T (n.*857A>T) c.2106+177295A>T (n.2106+177295A>T) | |
3 | g.184322003A= | CA1425953083 | EIF2B5,EIF4G1 | c.1419A= (p.Glu473=) c.1353A= (p.Glu451=) c.789A= (p.Glu263=) c.831A= (p.Glu277=) c.927A= (p.Glu309=) c.1440A= (p.Glu480=) c.1158A= (p.Glu386=) c.1299A= (p.Glu433=) c.*926A= (n.*926A=) c.1242A= (p.Glu414=) c.*858A= (n.*858A=) c.2106+177296A= (n.2106+177296A=) | |
3 | g.184322003A>C | CA355390149 | EIF2B5,EIF4G1 | c.1419A>C (p.Glu473Asp) c.1353A>C (p.Glu451Asp) c.789A>C (p.Glu263Asp) c.831A>C (p.Glu277Asp) c.927A>C (p.Glu309Asp) c.1440A>C (p.Glu480Asp) c.1158A>C (p.Glu386Asp) c.1299A>C (p.Glu433Asp) c.*926A>C (n.*926A>C) c.1242A>C (p.Glu414Asp) c.*858A>C (n.*858A>C) c.2106+177296A>C (n.2106+177296A>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184322003A>G | CA437329631 | EIF2B5,EIF4G1 | c.1419A>G (p.Glu473=) c.1353A>G (p.Glu451=) c.789A>G (p.Glu263=) c.831A>G (p.Glu277=) c.927A>G (p.Glu309=) c.1440A>G (p.Glu480=) c.1158A>G (p.Glu386=) c.1299A>G (p.Glu433=) c.*926A>G (n.*926A>G) c.1242A>G (p.Glu414=) c.*858A>G (n.*858A>G) c.2106+177296A>G (n.2106+177296A>G) | |
3 | g.184322003A>T | CA355390150 | EIF2B5,EIF4G1 | c.1419A>T (p.Glu473Asp) c.1353A>T (p.Glu451Asp) c.789A>T (p.Glu263Asp) c.831A>T (p.Glu277Asp) c.927A>T (p.Glu309Asp) c.1440A>T (p.Glu480Asp) c.1158A>T (p.Glu386Asp) c.1299A>T (p.Glu433Asp) c.*926A>T (n.*926A>T) c.1242A>T (p.Glu414Asp) c.*858A>T (n.*858A>T) c.2106+177296A>T (n.2106+177296A>T) | |
3 | g.184322004G>A | CA2732189 | EIF2B5,EIF4G1 | c.1420G>A (p.Ala474Thr) c.1354G>A (p.Ala452Thr) c.790G>A (p.Ala264Thr) c.832G>A (p.Ala278Thr) c.928G>A (p.Ala310Thr) c.1441G>A (p.Ala481Thr) c.1159G>A (p.Ala387Thr) c.1300G>A (p.Ala434Thr) c.*927G>A (n.*927G>A) c.1243G>A (p.Ala415Thr) c.*859G>A (n.*859G>A) c.2106+177297G>A (n.2106+177297G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184322004G>C | CA355390155 | EIF2B5,EIF4G1 | c.1420G>C (p.Ala474Pro) c.1354G>C (p.Ala452Pro) c.790G>C (p.Ala264Pro) c.832G>C (p.Ala278Pro) c.928G>C (p.Ala310Pro) c.1441G>C (p.Ala481Pro) c.1159G>C (p.Ala387Pro) c.1300G>C (p.Ala434Pro) c.*927G>C (n.*927G>C) c.1243G>C (p.Ala415Pro) c.*859G>C (n.*859G>C) c.2106+177297G>C (n.2106+177297G>C) | |
3 | g.184322004G= | CA1425953085 | EIF2B5,EIF4G1 | c.1420G= (p.Ala474=) c.1354G= (p.Ala452=) c.790G= (p.Ala264=) c.832G= (p.Ala278=) c.928G= (p.Ala310=) c.1441G= (p.Ala481=) c.1159G= (p.Ala387=) c.1300G= (p.Ala434=) c.*927G= (n.*927G=) c.1243G= (p.Ala415=) c.*859G= (n.*859G=) c.2106+177297G= (n.2106+177297G=) | |
3 | g.184322004G>T | CA355390157 | EIF2B5,EIF4G1 | c.1420G>T (p.Ala474Ser) c.1354G>T (p.Ala452Ser) c.790G>T (p.Ala264Ser) c.832G>T (p.Ala278Ser) c.928G>T (p.Ala310Ser) c.1441G>T (p.Ala481Ser) c.1159G>T (p.Ala387Ser) c.1300G>T (p.Ala434Ser) c.*927G>T (n.*927G>T) c.1243G>T (p.Ala415Ser) c.*859G>T (n.*859G>T) c.2106+177297G>T (n.2106+177297G>T) | |
3 | g.184322005C>A | CA355390159 | EIF2B5,EIF4G1 | c.1421C>A (p.Ala474Asp) c.1355C>A (p.Ala452Asp) c.791C>A (p.Ala264Asp) c.833C>A (p.Ala278Asp) c.929C>A (p.Ala310Asp) c.1442C>A (p.Ala481Asp) c.1160C>A (p.Ala387Asp) c.1301C>A (p.Ala434Asp) c.*928C>A (n.*928C>A) c.1244C>A (p.Ala415Asp) c.*860C>A (n.*860C>A) c.2106+177298C>A (n.2106+177298C>A) | |
3 | g.184322005C= | CA1425953089 | EIF2B5,EIF4G1 | c.1421C= (p.Ala474=) c.1355C= (p.Ala452=) c.791C= (p.Ala264=) c.833C= (p.Ala278=) c.929C= (p.Ala310=) c.1442C= (p.Ala481=) c.1160C= (p.Ala387=) c.1301C= (p.Ala434=) c.*928C= (n.*928C=) c.1244C= (p.Ala415=) c.*860C= (n.*860C=) c.2106+177298C= (n.2106+177298C=) | |
3 | g.184322005C>G | CA355390162 | EIF2B5,EIF4G1 | c.1421C>G (p.Ala474Gly) c.1355C>G (p.Ala452Gly) c.791C>G (p.Ala264Gly) c.833C>G (p.Ala278Gly) c.929C>G (p.Ala310Gly) c.1442C>G (p.Ala481Gly) c.1160C>G (p.Ala387Gly) c.1301C>G (p.Ala434Gly) c.*928C>G (n.*928C>G) c.1244C>G (p.Ala415Gly) c.*860C>G (n.*860C>G) c.2106+177298C>G (n.2106+177298C>G) | dbSNP gnomAD v4 |
3 | g.184322005C>T | CA355390164 | EIF2B5,EIF4G1 | c.1421C>T (p.Ala474Val) c.1355C>T (p.Ala452Val) c.791C>T (p.Ala264Val) c.833C>T (p.Ala278Val) c.929C>T (p.Ala310Val) c.1442C>T (p.Ala481Val) c.1160C>T (p.Ala387Val) c.1301C>T (p.Ala434Val) c.*928C>T (n.*928C>T) c.1244C>T (p.Ala415Val) c.*860C>T (n.*860C>T) c.2106+177298C>T (n.2106+177298C>T) | |
3 | g.184322005_184322006insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA | CA1057225277 | EIF2B5,EIF4G1 | c.1421_1422insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu475GlyfsTer12) c.1355_1356insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu453GlyfsTer12) c.791_792insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu265GlyfsTer12) c.833_834insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu279GlyfsTer12) c.929_930insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu311GlyfsTer12) c.1442_1443insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu482GlyfsTer12) c.1160_1161insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu388GlyfsTer12) c.1301_1302insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu435GlyfsTer12) c.*928_*929insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (n.*928_*929insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA) c.1244_1245insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu416GlyfsTer12) c.*860_*861insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (n.*860_*861insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA) c.2106+177298_2106+177299insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (n.2106+177298_2106+177299insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA) | gnomAD v3 gnomAD v4 |
3 | g.184322006T>A | CA437329633 | EIF2B5,EIF4G1 | c.1422T>A (p.Ala474=) c.1356T>A (p.Ala452=) c.792T>A (p.Ala264=) c.834T>A (p.Ala278=) c.930T>A (p.Ala310=) c.1443T>A (p.Ala481=) c.1161T>A (p.Ala387=) c.1302T>A (p.Ala434=) c.*929T>A (n.*929T>A) c.1245T>A (p.Ala415=) c.*861T>A (n.*861T>A) c.2106+177299T>A (n.2106+177299T>A) | gnomAD v4 |
3 | g.184322006T>C | CA2732190 | EIF2B5,EIF4G1 | c.1422T>C (p.Ala474=) c.1356T>C (p.Ala452=) c.792T>C (p.Ala264=) c.834T>C (p.Ala278=) c.930T>C (p.Ala310=) c.1443T>C (p.Ala481=) c.1161T>C (p.Ala387=) c.1302T>C (p.Ala434=) c.*929T>C (n.*929T>C) c.1245T>C (p.Ala415=) c.*861T>C (n.*861T>C) c.2106+177299T>C (n.2106+177299T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322006T>G | CA437329635 | EIF2B5,EIF4G1 | c.1422T>G (p.Ala474=) c.1356T>G (p.Ala452=) c.792T>G (p.Ala264=) c.834T>G (p.Ala278=) c.930T>G (p.Ala310=) c.1443T>G (p.Ala481=) c.1161T>G (p.Ala387=) c.1302T>G (p.Ala434=) c.*929T>G (n.*929T>G) c.1245T>G (p.Ala415=) c.*861T>G (n.*861T>G) c.2106+177299T>G (n.2106+177299T>G) | |
3 | g.184322006T= | CA1425953091 | EIF2B5,EIF4G1 | c.1422T= (p.Ala474=) c.1356T= (p.Ala452=) c.792T= (p.Ala264=) c.834T= (p.Ala278=) c.930T= (p.Ala310=) c.1443T= (p.Ala481=) c.1161T= (p.Ala387=) c.1302T= (p.Ala434=) c.*929T= (n.*929T=) c.1245T= (p.Ala415=) c.*861T= (n.*861T=) c.2106+177299T= (n.2106+177299T=) | |
3 | g.184322007G>A | CA355390204 | EIF2B5,EIF4G1 | c.1423G>A (p.Glu475Lys) c.1357G>A (p.Glu453Lys) c.793G>A (p.Glu265Lys) c.835G>A (p.Glu279Lys) c.931G>A (p.Glu311Lys) c.1444G>A (p.Glu482Lys) c.1162G>A (p.Glu388Lys) c.1303G>A (p.Glu435Lys) c.*930G>A (n.*930G>A) c.1246G>A (p.Glu416Lys) c.*862G>A (n.*862G>A) c.2106+177300G>A (n.2106+177300G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184322007G>C | CA355390186 | EIF2B5,EIF4G1 | c.1423G>C (p.Glu475Gln) c.1357G>C (p.Glu453Gln) c.793G>C (p.Glu265Gln) c.835G>C (p.Glu279Gln) c.931G>C (p.Glu311Gln) c.1444G>C (p.Glu482Gln) c.1162G>C (p.Glu388Gln) c.1303G>C (p.Glu435Gln) c.*930G>C (n.*930G>C) c.1246G>C (p.Glu416Gln) c.*862G>C (n.*862G>C) c.2106+177300G>C (n.2106+177300G>C) | gnomAD v4 |
3 | g.184322007G= | CA1425953095 | EIF2B5,EIF4G1 | c.1423G= (p.Glu475=) c.1357G= (p.Glu453=) c.793G= (p.Glu265=) c.835G= (p.Glu279=) c.931G= (p.Glu311=) c.1444G= (p.Glu482=) c.1162G= (p.Glu388=) c.1303G= (p.Glu435=) c.*930G= (n.*930G=) c.1246G= (p.Glu416=) c.*862G= (n.*862G=) c.2106+177300G= (n.2106+177300G=) | |
3 | g.184322007G>T | CA355390183 | EIF2B5,EIF4G1 | c.1423G>T (p.Glu475Ter) c.1357G>T (p.Glu453Ter) c.793G>T (p.Glu265Ter) c.835G>T (p.Glu279Ter) c.931G>T (p.Glu311Ter) c.1444G>T (p.Glu482Ter) c.1162G>T (p.Glu388Ter) c.1303G>T (p.Glu435Ter) c.*930G>T (n.*930G>T) c.1246G>T (p.Glu416Ter) c.*862G>T (n.*862G>T) c.2106+177300G>T (n.2106+177300G>T) | |
3 | g.184322008A= | CA1425953097 | EIF2B5,EIF4G1 | c.1424A= (p.Glu475=) c.1358A= (p.Glu453=) c.794A= (p.Glu265=) c.836A= (p.Glu279=) c.932A= (p.Glu311=) c.1445A= (p.Glu482=) c.1163A= (p.Glu388=) c.1304A= (p.Glu435=) c.*931A= (n.*931A=) c.1247A= (p.Glu416=) c.*863A= (n.*863A=) c.2106+177301A= (n.2106+177301A=) | |
3 | g.184322008A>C | CA355390211 | EIF2B5,EIF4G1 | c.1424A>C (p.Glu475Ala) c.1358A>C (p.Glu453Ala) c.794A>C (p.Glu265Ala) c.836A>C (p.Glu279Ala) c.932A>C (p.Glu311Ala) c.1445A>C (p.Glu482Ala) c.1163A>C (p.Glu388Ala) c.1304A>C (p.Glu435Ala) c.*931A>C (n.*931A>C) c.1247A>C (p.Glu416Ala) c.*863A>C (n.*863A>C) c.2106+177301A>C (n.2106+177301A>C) | |
3 | g.184322008A>G | CA355390217 | EIF2B5,EIF4G1 | c.1424A>G (p.Glu475Gly) c.1358A>G (p.Glu453Gly) c.794A>G (p.Glu265Gly) c.836A>G (p.Glu279Gly) c.932A>G (p.Glu311Gly) c.1445A>G (p.Glu482Gly) c.1163A>G (p.Glu388Gly) c.1304A>G (p.Glu435Gly) c.*931A>G (n.*931A>G) c.1247A>G (p.Glu416Gly) c.*863A>G (n.*863A>G) c.2106+177301A>G (n.2106+177301A>G) | |
3 | g.184322008A>T | CA355390220 | EIF2B5,EIF4G1 | c.1424A>T (p.Glu475Val) c.1358A>T (p.Glu453Val) c.794A>T (p.Glu265Val) c.836A>T (p.Glu279Val) c.932A>T (p.Glu311Val) c.1445A>T (p.Glu482Val) c.1163A>T (p.Glu388Val) c.1304A>T (p.Glu435Val) c.*931A>T (n.*931A>T) c.1247A>T (p.Glu416Val) c.*863A>T (n.*863A>T) c.2106+177301A>T (n.2106+177301A>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184322009G>A | CA88863420 | EIF2B5,EIF4G1 | c.1425G>A (p.Glu475=) c.1359G>A (p.Glu453=) c.795G>A (p.Glu265=) c.837G>A (p.Glu279=) c.933G>A (p.Glu311=) c.1446G>A (p.Glu482=) c.1164G>A (p.Glu388=) c.1305G>A (p.Glu435=) c.*932G>A (n.*932G>A) c.1248G>A (p.Glu416=) c.*864G>A (n.*864G>A) c.2106+177302G>A (n.2106+177302G>A) | dbSNP |
3 | g.184322009G>C | CA355390231 | EIF2B5,EIF4G1 | c.1425G>C (p.Glu475Asp) c.1359G>C (p.Glu453Asp) c.795G>C (p.Glu265Asp) c.837G>C (p.Glu279Asp) c.933G>C (p.Glu311Asp) c.1446G>C (p.Glu482Asp) c.1164G>C (p.Glu388Asp) c.1305G>C (p.Glu435Asp) c.*932G>C (n.*932G>C) c.1248G>C (p.Glu416Asp) c.*864G>C (n.*864G>C) c.2106+177302G>C (n.2106+177302G>C) | |
3 | g.184322009G= | CA1425953100 | EIF2B5,EIF4G1 | c.1425G= (p.Glu475=) c.1359G= (p.Glu453=) c.795G= (p.Glu265=) c.837G= (p.Glu279=) c.933G= (p.Glu311=) c.1446G= (p.Glu482=) c.1164G= (p.Glu388=) c.1305G= (p.Glu435=) c.*932G= (n.*932G=) c.1248G= (p.Glu416=) c.*864G= (n.*864G=) c.2106+177302G= (n.2106+177302G=) | |
3 | g.184322009G>T | CA355390257 | EIF2B5,EIF4G1 | c.1425G>T (p.Glu475Asp) c.1359G>T (p.Glu453Asp) c.795G>T (p.Glu265Asp) c.837G>T (p.Glu279Asp) c.933G>T (p.Glu311Asp) c.1446G>T (p.Glu482Asp) c.1164G>T (p.Glu388Asp) c.1305G>T (p.Glu435Asp) c.*932G>T (n.*932G>T) c.1248G>T (p.Glu416Asp) c.*864G>T (n.*864G>T) c.2106+177302G>T (n.2106+177302G>T) | |
3 | g.184322010A>C | CA355390268 | EIF2B5,EIF4G1 | c.1426A>C (p.Ser476Arg) c.1360A>C (p.Ser454Arg) c.796A>C (p.Ser266Arg) c.838A>C (p.Ser280Arg) c.934A>C (p.Ser312Arg) c.1447A>C (p.Ser483Arg) c.1165A>C (p.Ser389Arg) c.1306A>C (p.Ser436Arg) c.*933A>C (n.*933A>C) c.1249A>C (p.Ser417Arg) c.*865A>C (n.*865A>C) c.2106+177303A>C (n.2106+177303A>C) | |
3 | g.184322010A>G | CA355390271 | EIF2B5,EIF4G1 | c.1426A>G (p.Ser476Gly) c.1360A>G (p.Ser454Gly) c.796A>G (p.Ser266Gly) c.838A>G (p.Ser280Gly) c.934A>G (p.Ser312Gly) c.1447A>G (p.Ser483Gly) c.1165A>G (p.Ser389Gly) c.1306A>G (p.Ser436Gly) c.*933A>G (n.*933A>G) c.1249A>G (p.Ser417Gly) c.*865A>G (n.*865A>G) c.2106+177303A>G (n.2106+177303A>G) | |
3 | g.184322010A>T | CA355390273 | EIF2B5,EIF4G1 | c.1426A>T (p.Ser476Cys) c.1360A>T (p.Ser454Cys) c.796A>T (p.Ser266Cys) c.838A>T (p.Ser280Cys) c.934A>T (p.Ser312Cys) c.1447A>T (p.Ser483Cys) c.1165A>T (p.Ser389Cys) c.1306A>T (p.Ser436Cys) c.*933A>T (n.*933A>T) c.1249A>T (p.Ser417Cys) c.*865A>T (n.*865A>T) c.2106+177303A>T (n.2106+177303A>T) | |
3 | g.184322011G>A | CA355390279 | EIF2B5,EIF4G1 | c.1427G>A (p.Ser476Asn) c.1361G>A (p.Ser454Asn) c.797G>A (p.Ser266Asn) c.839G>A (p.Ser280Asn) c.935G>A (p.Ser312Asn) c.1448G>A (p.Ser483Asn) c.1166G>A (p.Ser389Asn) c.1307G>A (p.Ser436Asn) c.*934G>A (n.*934G>A) c.1250G>A (p.Ser417Asn) c.*866G>A (n.*866G>A) c.2106+177304G>A (n.2106+177304G>A) | |
3 | g.184322011G>C | CA355390282 | EIF2B5,EIF4G1 | c.1427G>C (p.Ser476Thr) c.1361G>C (p.Ser454Thr) c.797G>C (p.Ser266Thr) c.839G>C (p.Ser280Thr) c.935G>C (p.Ser312Thr) c.1448G>C (p.Ser483Thr) c.1166G>C (p.Ser389Thr) c.1307G>C (p.Ser436Thr) c.*934G>C (n.*934G>C) c.1250G>C (p.Ser417Thr) c.*866G>C (n.*866G>C) c.2106+177304G>C (n.2106+177304G>C) | dbSNP |
3 | g.184322011G= | CA1425953103 | EIF2B5,EIF4G1 | c.1427G= (p.Ser476=) c.1361G= (p.Ser454=) c.797G= (p.Ser266=) c.839G= (p.Ser280=) c.935G= (p.Ser312=) c.1448G= (p.Ser483=) c.1166G= (p.Ser389=) c.1307G= (p.Ser436=) c.*934G= (n.*934G=) c.1250G= (p.Ser417=) c.*866G= (n.*866G=) c.2106+177304G= (n.2106+177304G=) | |
3 | g.184322011G>T | CA355390287 | EIF2B5,EIF4G1 | c.1427G>T (p.Ser476Ile) c.1361G>T (p.Ser454Ile) c.797G>T (p.Ser266Ile) c.839G>T (p.Ser280Ile) c.935G>T (p.Ser312Ile) c.1448G>T (p.Ser483Ile) c.1166G>T (p.Ser389Ile) c.1307G>T (p.Ser436Ile) c.*934G>T (n.*934G>T) c.1250G>T (p.Ser417Ile) c.*866G>T (n.*866G>T) c.2106+177304G>T (n.2106+177304G>T) | |
3 | g.184322012T>A | CA355390300 | EIF2B5,EIF4G1 | c.1428T>A (p.Ser476Arg) c.1362T>A (p.Ser454Arg) c.798T>A (p.Ser266Arg) c.840T>A (p.Ser280Arg) c.936T>A (p.Ser312Arg) c.1449T>A (p.Ser483Arg) c.1167T>A (p.Ser389Arg) c.1308T>A (p.Ser436Arg) c.*935T>A (n.*935T>A) c.1251T>A (p.Ser417Arg) c.*867T>A (n.*867T>A) c.2106+177305T>A (n.2106+177305T>A) | gnomAD v4 |
3 | g.184322012T>C | CA437329641 | EIF2B5,EIF4G1 | c.1428T>C (p.Ser476=) c.1362T>C (p.Ser454=) c.798T>C (p.Ser266=) c.840T>C (p.Ser280=) c.936T>C (p.Ser312=) c.1449T>C (p.Ser483=) c.1167T>C (p.Ser389=) c.1308T>C (p.Ser436=) c.*935T>C (n.*935T>C) c.1251T>C (p.Ser417=) c.*867T>C (n.*867T>C) c.2106+177305T>C (n.2106+177305T>C) | |
3 | g.184322012T>G | CA355390303 | EIF2B5,EIF4G1 | c.1428T>G (p.Ser476Arg) c.1362T>G (p.Ser454Arg) c.798T>G (p.Ser266Arg) c.840T>G (p.Ser280Arg) c.936T>G (p.Ser312Arg) c.1449T>G (p.Ser483Arg) c.1167T>G (p.Ser389Arg) c.1308T>G (p.Ser436Arg) c.*935T>G (n.*935T>G) c.1251T>G (p.Ser417Arg) c.*867T>G (n.*867T>G) c.2106+177305T>G (n.2106+177305T>G) | |
3 | g.184322013G>A | CA2732191 | EIF2B5,EIF4G1 | c.1429G>A (p.Glu477Lys) c.1363G>A (p.Glu455Lys) c.799G>A (p.Glu267Lys) c.841G>A (p.Glu281Lys) c.937G>A (p.Glu313Lys) c.1450G>A (p.Glu484Lys) c.1168G>A (p.Glu390Lys) c.1309G>A (p.Glu437Lys) c.*936G>A (n.*936G>A) c.1252G>A (p.Glu418Lys) c.*868G>A (n.*868G>A) c.2106+177306G>A (n.2106+177306G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322013G>C | CA88863422 | EIF2B5,EIF4G1 | c.1429G>C (p.Glu477Gln) c.1363G>C (p.Glu455Gln) c.799G>C (p.Glu267Gln) c.841G>C (p.Glu281Gln) c.937G>C (p.Glu313Gln) c.1450G>C (p.Glu484Gln) c.1168G>C (p.Glu390Gln) c.1309G>C (p.Glu437Gln) c.*936G>C (n.*936G>C) c.1252G>C (p.Glu418Gln) c.*868G>C (n.*868G>C) c.2106+177306G>C (n.2106+177306G>C) | dbSNP |
3 | g.184322013G= | CA1425953105 | EIF2B5,EIF4G1 | c.1429G= (p.Glu477=) c.1363G= (p.Glu455=) c.799G= (p.Glu267=) c.841G= (p.Glu281=) c.937G= (p.Glu313=) c.1450G= (p.Glu484=) c.1168G= (p.Glu390=) c.1309G= (p.Glu437=) c.*936G= (n.*936G=) c.1252G= (p.Glu418=) c.*868G= (n.*868G=) c.2106+177306G= (n.2106+177306G=) | |
3 | g.184322013G>T | CA355390313 | EIF2B5,EIF4G1 | c.1429G>T (p.Glu477Ter) c.1363G>T (p.Glu455Ter) c.799G>T (p.Glu267Ter) c.841G>T (p.Glu281Ter) c.937G>T (p.Glu313Ter) c.1450G>T (p.Glu484Ter) c.1168G>T (p.Glu390Ter) c.1309G>T (p.Glu437Ter) c.*936G>T (n.*936G>T) c.1252G>T (p.Glu418Ter) c.*868G>T (n.*868G>T) c.2106+177306G>T (n.2106+177306G>T) | |
3 | g.184322014A>C | CA355390328 | EIF2B5,EIF4G1 | c.1430A>C (p.Glu477Ala) c.1364A>C (p.Glu455Ala) c.800A>C (p.Glu267Ala) c.842A>C (p.Glu281Ala) c.938A>C (p.Glu313Ala) c.1451A>C (p.Glu484Ala) c.1169A>C (p.Glu390Ala) c.1310A>C (p.Glu437Ala) c.*937A>C (n.*937A>C) c.1253A>C (p.Glu418Ala) c.*869A>C (n.*869A>C) c.2106+177307A>C (n.2106+177307A>C) | gnomAD v4 |
3 | g.184322014A>G | CA355390334 | EIF2B5,EIF4G1 | c.1430A>G (p.Glu477Gly) c.1364A>G (p.Glu455Gly) c.800A>G (p.Glu267Gly) c.842A>G (p.Glu281Gly) c.938A>G (p.Glu313Gly) c.1451A>G (p.Glu484Gly) c.1169A>G (p.Glu390Gly) c.1310A>G (p.Glu437Gly) c.*937A>G (n.*937A>G) c.1253A>G (p.Glu418Gly) c.*869A>G (n.*869A>G) c.2106+177307A>G (n.2106+177307A>G) | gnomAD v4 |
3 | g.184322014A>T | CA355390332 | EIF2B5,EIF4G1 | c.1430A>T (p.Glu477Val) c.1364A>T (p.Glu455Val) c.800A>T (p.Glu267Val) c.842A>T (p.Glu281Val) c.938A>T (p.Glu313Val) c.1451A>T (p.Glu484Val) c.1169A>T (p.Glu390Val) c.1310A>T (p.Glu437Val) c.*937A>T (n.*937A>T) c.1253A>T (p.Glu418Val) c.*869A>T (n.*869A>T) c.2106+177307A>T (n.2106+177307A>T) | |
3 | g.184322015G>A | CA437329644 | EIF2B5,EIF4G1 | c.1431G>A (p.Glu477=) c.1365G>A (p.Glu455=) c.801G>A (p.Glu267=) c.843G>A (p.Glu281=) c.939G>A (p.Glu313=) c.1452G>A (p.Glu484=) c.1170G>A (p.Glu390=) c.1311G>A (p.Glu437=) c.*938G>A (n.*938G>A) c.1254G>A (p.Glu418=) c.*870G>A (n.*870G>A) c.2106+177308G>A (n.2106+177308G>A) | |
3 | g.184322015G>C | CA355390340 | EIF2B5,EIF4G1 | c.1431G>C (p.Glu477Asp) c.1365G>C (p.Glu455Asp) c.801G>C (p.Glu267Asp) c.843G>C (p.Glu281Asp) c.939G>C (p.Glu313Asp) c.1452G>C (p.Glu484Asp) c.1170G>C (p.Glu390Asp) c.1311G>C (p.Glu437Asp) c.*938G>C (n.*938G>C) c.1254G>C (p.Glu418Asp) c.*870G>C (n.*870G>C) c.2106+177308G>C (n.2106+177308G>C) | |
3 | g.184322015G>T | CA355390345 | EIF2B5,EIF4G1 | c.1431G>T (p.Glu477Asp) c.1365G>T (p.Glu455Asp) c.801G>T (p.Glu267Asp) c.843G>T (p.Glu281Asp) c.939G>T (p.Glu313Asp) c.1452G>T (p.Glu484Asp) c.1170G>T (p.Glu390Asp) c.1311G>T (p.Glu437Asp) c.*938G>T (n.*938G>T) c.1254G>T (p.Glu418Asp) c.*870G>T (n.*870G>T) c.2106+177308G>T (n.2106+177308G>T) | |
3 | g.184322016A>C | CA355390352 | EIF2B5,EIF4G1 | c.1432A>C (p.Lys478Gln) c.1366A>C (p.Lys456Gln) c.802A>C (p.Lys268Gln) c.844A>C (p.Lys282Gln) c.940A>C (p.Lys314Gln) c.1453A>C (p.Lys485Gln) c.1171A>C (p.Lys391Gln) c.1312A>C (p.Lys438Gln) c.*939A>C (n.*939A>C) c.1255A>C (p.Lys419Gln) c.*871A>C (n.*871A>C) c.2106+177309A>C (n.2106+177309A>C) | |
3 | g.184322016A>G | CA355390356 | EIF2B5,EIF4G1 | c.1432A>G (p.Lys478Glu) c.1366A>G (p.Lys456Glu) c.802A>G (p.Lys268Glu) c.844A>G (p.Lys282Glu) c.940A>G (p.Lys314Glu) c.1453A>G (p.Lys485Glu) c.1171A>G (p.Lys391Glu) c.1312A>G (p.Lys438Glu) c.*939A>G (n.*939A>G) c.1255A>G (p.Lys419Glu) c.*871A>G (n.*871A>G) c.2106+177309A>G (n.2106+177309A>G) | |
3 | g.184322016A>T | CA355390359 | EIF2B5,EIF4G1 | c.1432A>T (p.Lys478Ter) c.1366A>T (p.Lys456Ter) c.802A>T (p.Lys268Ter) c.844A>T (p.Lys282Ter) c.940A>T (p.Lys314Ter) c.1453A>T (p.Lys485Ter) c.1171A>T (p.Lys391Ter) c.1312A>T (p.Lys438Ter) c.*939A>T (n.*939A>T) c.1255A>T (p.Lys419Ter) c.*871A>T (n.*871A>T) c.2106+177309A>T (n.2106+177309A>T) | |
3 | g.184322017A>C | CA355390368 | EIF2B5,EIF4G1 | c.1433A>C (p.Lys478Thr) c.1367A>C (p.Lys456Thr) c.803A>C (p.Lys268Thr) c.845A>C (p.Lys282Thr) c.941A>C (p.Lys314Thr) c.1454A>C (p.Lys485Thr) c.1172A>C (p.Lys391Thr) c.1313A>C (p.Lys438Thr) c.*940A>C (n.*940A>C) c.1256A>C (p.Lys419Thr) c.*872A>C (n.*872A>C) c.2106+177310A>C (n.2106+177310A>C) | |
3 | g.184322017A>G | CA355390370 | EIF2B5,EIF4G1 | c.1433A>G (p.Lys478Arg) c.1367A>G (p.Lys456Arg) c.803A>G (p.Lys268Arg) c.845A>G (p.Lys282Arg) c.941A>G (p.Lys314Arg) c.1454A>G (p.Lys485Arg) c.1172A>G (p.Lys391Arg) c.1313A>G (p.Lys438Arg) c.*940A>G (n.*940A>G) c.1256A>G (p.Lys419Arg) c.*872A>G (n.*872A>G) c.2106+177310A>G (n.2106+177310A>G) | gnomAD v4 |
3 | g.184322017A>T | CA355390372 | EIF2B5,EIF4G1 | c.1433A>T (p.Lys478Ile) c.1367A>T (p.Lys456Ile) c.803A>T (p.Lys268Ile) c.845A>T (p.Lys282Ile) c.941A>T (p.Lys314Ile) c.1454A>T (p.Lys485Ile) c.1172A>T (p.Lys391Ile) c.1313A>T (p.Lys438Ile) c.*940A>T (n.*940A>T) c.1256A>T (p.Lys419Ile) c.*872A>T (n.*872A>T) c.2106+177310A>T (n.2106+177310A>T) | |
3 | g.184322017_184322020delinsAAGG | CA1425953107 | EIF2B5,EIF4G1 | c.1433_1436delinsAAGG (p.Lys478=) c.1367_1370delinsAAGG (p.Lys456=) c.803_806delinsAAGG (p.Lys268=) c.845_848delinsAAGG (p.Lys282=) c.941_944delinsAAGG (p.Lys314=) c.1454_1457delinsAAGG (p.Lys485=) c.1172_1175delinsAAGG (p.Lys391=) c.1313_1316delinsAAGG (p.Lys438=) c.*940_*943delinsAAGG (n.*940_*943delinsAAGG) c.1256_1259delinsAAGG (p.Lys419=) c.*872_*875delinsAAGG (n.*872_*875delinsAAGG) c.2106+177310_2106+177313delinsAAGG (n.2106+177310_2106+177313delinsAAGG) | |
3 | g.184322018A>C | CA355390374 | EIF2B5,EIF4G1 | c.1434A>C (p.Lys478Asn) c.1368A>C (p.Lys456Asn) c.804A>C (p.Lys268Asn) c.846A>C (p.Lys282Asn) c.942A>C (p.Lys314Asn) c.1455A>C (p.Lys485Asn) c.1173A>C (p.Lys391Asn) c.1314A>C (p.Lys438Asn) c.*941A>C (n.*941A>C) c.1257A>C (p.Lys419Asn) c.*873A>C (n.*873A>C) c.2106+177311A>C (n.2106+177311A>C) | |
3 | g.184322018A>G | CA437329648 | EIF2B5,EIF4G1 | c.1434A>G (p.Lys478=) c.1368A>G (p.Lys456=) c.804A>G (p.Lys268=) c.846A>G (p.Lys282=) c.942A>G (p.Lys314=) c.1455A>G (p.Lys485=) c.1173A>G (p.Lys391=) c.1314A>G (p.Lys438=) c.*941A>G (n.*941A>G) c.1257A>G (p.Lys419=) c.*873A>G (n.*873A>G) c.2106+177311A>G (n.2106+177311A>G) | gnomAD v4 |
3 | g.184322018A>T | CA355390377 | EIF2B5,EIF4G1 | c.1434A>T (p.Lys478Asn) c.1368A>T (p.Lys456Asn) c.804A>T (p.Lys268Asn) c.846A>T (p.Lys282Asn) c.942A>T (p.Lys314Asn) c.1455A>T (p.Lys485Asn) c.1173A>T (p.Lys391Asn) c.1314A>T (p.Lys438Asn) c.*941A>T (n.*941A>T) c.1257A>T (p.Lys419Asn) c.*873A>T (n.*873A>T) c.2106+177311A>T (n.2106+177311A>T) | |
3 | g.184322023_184322025del | CA548795501 | EIF2B5,EIF4G1 | c.1439_1441del (p.Gly480del) c.1373_1375del (p.Gly458del) c.809_811del (p.Gly270del) c.851_853del (p.Gly284del) c.947_949del (p.Gly316del) c.1460_1462del (p.Gly487del) c.1178_1180del (p.Gly393del) c.1319_1321del (p.Gly440del) c.*946_*948del (n.*946_*948del) c.1262_1264del (p.Gly421del) c.*878_*880del (n.*878_*880del) c.2106+177316_2106+177318del (n.2106+177316_2106+177318del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184322019G>A | CA355390382 | EIF2B5,EIF4G1 | c.1435G>A (p.Gly479Arg) c.1369G>A (p.Gly457Arg) c.805G>A (p.Gly269Arg) c.847G>A (p.Gly283Arg) c.943G>A (p.Gly315Arg) c.1456G>A (p.Gly486Arg) c.1174G>A (p.Gly392Arg) c.1315G>A (p.Gly439Arg) c.*942G>A (n.*942G>A) c.1258G>A (p.Gly420Arg) c.*874G>A (n.*874G>A) c.2106+177312G>A (n.2106+177312G>A) | |
3 | g.184322019G>C | CA355390386 | EIF2B5,EIF4G1 | c.1435G>C (p.Gly479Arg) c.1369G>C (p.Gly457Arg) c.805G>C (p.Gly269Arg) c.847G>C (p.Gly283Arg) c.943G>C (p.Gly315Arg) c.1456G>C (p.Gly486Arg) c.1174G>C (p.Gly392Arg) c.1315G>C (p.Gly439Arg) c.*942G>C (n.*942G>C) c.1258G>C (p.Gly420Arg) c.*874G>C (n.*874G>C) c.2106+177312G>C (n.2106+177312G>C) | |
3 | g.184322019G>T | CA355390389 | EIF2B5,EIF4G1 | c.1435G>T (p.Gly479Ter) c.1369G>T (p.Gly457Ter) c.805G>T (p.Gly269Ter) c.847G>T (p.Gly283Ter) c.943G>T (p.Gly315Ter) c.1456G>T (p.Gly486Ter) c.1174G>T (p.Gly392Ter) c.1315G>T (p.Gly439Ter) c.*942G>T (n.*942G>T) c.1258G>T (p.Gly420Ter) c.*874G>T (n.*874G>T) c.2106+177312G>T (n.2106+177312G>T) | |
3 | g.184322020G>A | CA355390405 | EIF2B5,EIF4G1 | c.1436G>A (p.Gly479Glu) c.1370G>A (p.Gly457Glu) c.806G>A (p.Gly269Glu) c.848G>A (p.Gly283Glu) c.944G>A (p.Gly315Glu) c.1457G>A (p.Gly486Glu) c.1175G>A (p.Gly392Glu) c.1316G>A (p.Gly439Glu) c.*943G>A (n.*943G>A) c.1259G>A (p.Gly420Glu) c.*875G>A (n.*875G>A) c.2106+177313G>A (n.2106+177313G>A) | |
3 | g.184322020G>C | CA355390401 | EIF2B5,EIF4G1 | c.1436G>C (p.Gly479Ala) c.1370G>C (p.Gly457Ala) c.806G>C (p.Gly269Ala) c.848G>C (p.Gly283Ala) c.944G>C (p.Gly315Ala) c.1457G>C (p.Gly486Ala) c.1175G>C (p.Gly392Ala) c.1316G>C (p.Gly439Ala) c.*943G>C (n.*943G>C) c.1259G>C (p.Gly420Ala) c.*875G>C (n.*875G>C) c.2106+177313G>C (n.2106+177313G>C) | |
3 | g.184322020G= | CA1425953111 | EIF2B5,EIF4G1 | c.1436G= (p.Gly479=) c.1370G= (p.Gly457=) c.806G= (p.Gly269=) c.848G= (p.Gly283=) c.944G= (p.Gly315=) c.1457G= (p.Gly486=) c.1175G= (p.Gly392=) c.1316G= (p.Gly439=) c.*943G= (n.*943G=) c.1259G= (p.Gly420=) c.*875G= (n.*875G=) c.2106+177313G= (n.2106+177313G=) | |
3 | g.184322020G>T | CA355390399 | EIF2B5,EIF4G1 | c.1436G>T (p.Gly479Val) c.1370G>T (p.Gly457Val) c.806G>T (p.Gly269Val) c.848G>T (p.Gly283Val) c.944G>T (p.Gly315Val) c.1457G>T (p.Gly486Val) c.1175G>T (p.Gly392Val) c.1316G>T (p.Gly439Val) c.*943G>T (n.*943G>T) c.1259G>T (p.Gly420Val) c.*875G>T (n.*875G>T) c.2106+177313G>T (n.2106+177313G>T) | dbSNP gnomAD v4 COSMIC |
3 | g.184322021A= | CA1425953114 | EIF2B5,EIF4G1 | c.1437A= (p.Gly479=) c.1371A= (p.Gly457=) c.807A= (p.Gly269=) c.849A= (p.Gly283=) c.945A= (p.Gly315=) c.1458A= (p.Gly486=) c.1176A= (p.Gly392=) c.1317A= (p.Gly439=) c.*944A= (n.*944A=) c.1260A= (p.Gly420=) c.*876A= (n.*876A=) c.2106+177314A= (n.2106+177314A=) | |
3 | g.184322021A>C | CA437329651 | EIF2B5,EIF4G1 | c.1437A>C (p.Gly479=) c.1371A>C (p.Gly457=) c.807A>C (p.Gly269=) c.849A>C (p.Gly283=) c.945A>C (p.Gly315=) c.1458A>C (p.Gly486=) c.1176A>C (p.Gly392=) c.1317A>C (p.Gly439=) c.*944A>C (n.*944A>C) c.1260A>C (p.Gly420=) c.*876A>C (n.*876A>C) c.2106+177314A>C (n.2106+177314A>C) | |
3 | g.184322021A>G | CA437329653 | EIF2B5,EIF4G1 | c.1437A>G (p.Gly479=) c.1371A>G (p.Gly457=) c.807A>G (p.Gly269=) c.849A>G (p.Gly283=) c.945A>G (p.Gly315=) c.1458A>G (p.Gly486=) c.1176A>G (p.Gly392=) c.1317A>G (p.Gly439=) c.*944A>G (n.*944A>G) c.1260A>G (p.Gly420=) c.*876A>G (n.*876A>G) c.2106+177314A>G (n.2106+177314A>G) | gnomAD v4 |
3 | g.184322021A>T | CA437329655 | EIF2B5,EIF4G1 | c.1437A>T (p.Gly479=) c.1371A>T (p.Gly457=) c.807A>T (p.Gly269=) c.849A>T (p.Gly283=) c.945A>T (p.Gly315=) c.1458A>T (p.Gly486=) c.1176A>T (p.Gly392=) c.1317A>T (p.Gly439=) c.*944A>T (n.*944A>T) c.1260A>T (p.Gly420=) c.*876A>T (n.*876A>T) c.2106+177314A>T (n.2106+177314A>T) | dbSNP gnomAD v2 |
3 | g.184322022G>A | CA355390409 | EIF2B5,EIF4G1 | c.1438G>A (p.Gly480Arg) c.1372G>A (p.Gly458Arg) c.808G>A (p.Gly270Arg) c.850G>A (p.Gly284Arg) c.946G>A (p.Gly316Arg) c.1459G>A (p.Gly487Arg) c.1177G>A (p.Gly393Arg) c.1318G>A (p.Gly440Arg) c.*945G>A (n.*945G>A) c.1261G>A (p.Gly421Arg) c.*877G>A (n.*877G>A) c.2106+177315G>A (n.2106+177315G>A) | |
3 | g.184322022G>C | CA355390418 | EIF2B5,EIF4G1 | c.1438G>C (p.Gly480Arg) c.1372G>C (p.Gly458Arg) c.808G>C (p.Gly270Arg) c.850G>C (p.Gly284Arg) c.946G>C (p.Gly316Arg) c.1459G>C (p.Gly487Arg) c.1177G>C (p.Gly393Arg) c.1318G>C (p.Gly440Arg) c.*945G>C (n.*945G>C) c.1261G>C (p.Gly421Arg) c.*877G>C (n.*877G>C) c.2106+177315G>C (n.2106+177315G>C) | |
3 | g.184322022G>T | CA355390424 | EIF2B5,EIF4G1 | c.1438G>T (p.Gly480Ter) c.1372G>T (p.Gly458Ter) c.808G>T (p.Gly270Ter) c.850G>T (p.Gly284Ter) c.946G>T (p.Gly316Ter) c.1459G>T (p.Gly487Ter) c.1177G>T (p.Gly393Ter) c.1318G>T (p.Gly440Ter) c.*945G>T (n.*945G>T) c.1261G>T (p.Gly421Ter) c.*877G>T (n.*877G>T) c.2106+177315G>T (n.2106+177315G>T) | |
3 | g.184322023G>A | CA2732192 | EIF2B5,EIF4G1 | c.1439G>A (p.Gly480Glu) c.1373G>A (p.Gly458Glu) c.809G>A (p.Gly270Glu) c.851G>A (p.Gly284Glu) c.947G>A (p.Gly316Glu) c.1460G>A (p.Gly487Glu) c.1178G>A (p.Gly393Glu) c.1319G>A (p.Gly440Glu) c.*946G>A (n.*946G>A) c.1262G>A (p.Gly421Glu) c.*878G>A (n.*878G>A) c.2106+177316G>A (n.2106+177316G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322023G>C | CA355390425 | EIF2B5,EIF4G1 | c.1439G>C (p.Gly480Ala) c.1373G>C (p.Gly458Ala) c.809G>C (p.Gly270Ala) c.851G>C (p.Gly284Ala) c.947G>C (p.Gly316Ala) c.1460G>C (p.Gly487Ala) c.1178G>C (p.Gly393Ala) c.1319G>C (p.Gly440Ala) c.*946G>C (n.*946G>C) c.1262G>C (p.Gly421Ala) c.*878G>C (n.*878G>C) c.2106+177316G>C (n.2106+177316G>C) | |
3 | g.184322023G= | CA1425953115 | EIF2B5,EIF4G1 | c.1439G= (p.Gly480=) c.1373G= (p.Gly458=) c.809G= (p.Gly270=) c.851G= (p.Gly284=) c.947G= (p.Gly316=) c.1460G= (p.Gly487=) c.1178G= (p.Gly393=) c.1319G= (p.Gly440=) c.*946G= (n.*946G=) c.1262G= (p.Gly421=) c.*878G= (n.*878G=) c.2106+177316G= (n.2106+177316G=) | |
3 | g.184322023G>T | CA355390427 | EIF2B5,EIF4G1 | c.1439G>T (p.Gly480Val) c.1373G>T (p.Gly458Val) c.809G>T (p.Gly270Val) c.851G>T (p.Gly284Val) c.947G>T (p.Gly316Val) c.1460G>T (p.Gly487Val) c.1178G>T (p.Gly393Val) c.1319G>T (p.Gly440Val) c.*946G>T (n.*946G>T) c.1262G>T (p.Gly421Val) c.*878G>T (n.*878G>T) c.2106+177316G>T (n.2106+177316G>T) | |
3 | g.184322024A>C | CA437329657 | EIF2B5,EIF4G1 | c.1440A>C (p.Gly480=) c.1374A>C (p.Gly458=) c.810A>C (p.Gly270=) c.852A>C (p.Gly284=) c.948A>C (p.Gly316=) c.1461A>C (p.Gly487=) c.1179A>C (p.Gly393=) c.1320A>C (p.Gly440=) c.*947A>C (n.*947A>C) c.1263A>C (p.Gly421=) c.*879A>C (n.*879A>C) c.2106+177317A>C (n.2106+177317A>C) | |
3 | g.184322024A>G | CA437329659 | EIF2B5,EIF4G1 | c.1440A>G (p.Gly480=) c.1374A>G (p.Gly458=) c.810A>G (p.Gly270=) c.852A>G (p.Gly284=) c.948A>G (p.Gly316=) c.1461A>G (p.Gly487=) c.1179A>G (p.Gly393=) c.1320A>G (p.Gly440=) c.*947A>G (n.*947A>G) c.1263A>G (p.Gly421=) c.*879A>G (n.*879A>G) c.2106+177317A>G (n.2106+177317A>G) | |
3 | g.184322024A>T | CA437329661 | EIF2B5,EIF4G1 | c.1440A>T (p.Gly480=) c.1374A>T (p.Gly458=) c.810A>T (p.Gly270=) c.852A>T (p.Gly284=) c.948A>T (p.Gly316=) c.1461A>T (p.Gly487=) c.1179A>T (p.Gly393=) c.1320A>T (p.Gly440=) c.*947A>T (n.*947A>T) c.1263A>T (p.Gly421=) c.*879A>T (n.*879A>T) c.2106+177317A>T (n.2106+177317A>T) | |
3 | g.184322025G>A | CA355390429 | EIF2B5,EIF4G1 | c.1441G>A (p.Glu481Lys) c.1375G>A (p.Glu459Lys) c.811G>A (p.Glu271Lys) c.853G>A (p.Glu285Lys) c.949G>A (p.Glu317Lys) c.1462G>A (p.Glu488Lys) c.1180G>A (p.Glu394Lys) c.1321G>A (p.Glu441Lys) c.*948G>A (n.*948G>A) c.1264G>A (p.Glu422Lys) c.*880G>A (n.*880G>A) c.2106+177318G>A (n.2106+177318G>A) | |
3 | g.184322025G>C | CA355390430 | EIF2B5,EIF4G1 | c.1441G>C (p.Glu481Gln) c.1375G>C (p.Glu459Gln) c.811G>C (p.Glu271Gln) c.853G>C (p.Glu285Gln) c.949G>C (p.Glu317Gln) c.1462G>C (p.Glu488Gln) c.1180G>C (p.Glu394Gln) c.1321G>C (p.Glu441Gln) c.*948G>C (n.*948G>C) c.1264G>C (p.Glu422Gln) c.*880G>C (n.*880G>C) c.2106+177318G>C (n.2106+177318G>C) | |
3 | g.184322025G>T | CA355390434 | EIF2B5,EIF4G1 | c.1441G>T (p.Glu481Ter) c.1375G>T (p.Glu459Ter) c.811G>T (p.Glu271Ter) c.853G>T (p.Glu285Ter) c.949G>T (p.Glu317Ter) c.1462G>T (p.Glu488Ter) c.1180G>T (p.Glu394Ter) c.1321G>T (p.Glu441Ter) c.*948G>T (n.*948G>T) c.1264G>T (p.Glu422Ter) c.*880G>T (n.*880G>T) c.2106+177318G>T (n.2106+177318G>T) | |
3 | g.184322026A>C | CA355390439 | EIF2B5,EIF4G1 | c.1442A>C (p.Glu481Ala) c.1376A>C (p.Glu459Ala) c.812A>C (p.Glu271Ala) c.854A>C (p.Glu285Ala) c.950A>C (p.Glu317Ala) c.1463A>C (p.Glu488Ala) c.1181A>C (p.Glu394Ala) c.1322A>C (p.Glu441Ala) c.*949A>C (n.*949A>C) c.1265A>C (p.Glu422Ala) c.*881A>C (n.*881A>C) c.2106+177319A>C (n.2106+177319A>C) | |
3 | g.184322026A>G | CA355390446 | EIF2B5,EIF4G1 | c.1442A>G (p.Glu481Gly) c.1376A>G (p.Glu459Gly) c.812A>G (p.Glu271Gly) c.854A>G (p.Glu285Gly) c.950A>G (p.Glu317Gly) c.1463A>G (p.Glu488Gly) c.1181A>G (p.Glu394Gly) c.1322A>G (p.Glu441Gly) c.*949A>G (n.*949A>G) c.1265A>G (p.Glu422Gly) c.*881A>G (n.*881A>G) c.2106+177319A>G (n.2106+177319A>G) | |
3 | g.184322026A>T | CA355390450 | EIF2B5,EIF4G1 | c.1442A>T (p.Glu481Val) c.1376A>T (p.Glu459Val) c.812A>T (p.Glu271Val) c.854A>T (p.Glu285Val) c.950A>T (p.Glu317Val) c.1463A>T (p.Glu488Val) c.1181A>T (p.Glu394Val) c.1322A>T (p.Glu441Val) c.*949A>T (n.*949A>T) c.1265A>T (p.Glu422Val) c.*881A>T (n.*881A>T) c.2106+177319A>T (n.2106+177319A>T) | |
3 | g.184322027G>A | CA437329662 | EIF2B5,EIF4G1 | c.1443G>A (p.Glu481=) c.1377G>A (p.Glu459=) c.813G>A (p.Glu271=) c.855G>A (p.Glu285=) c.951G>A (p.Glu317=) c.1464G>A (p.Glu488=) c.1182G>A (p.Glu394=) c.1323G>A (p.Glu441=) c.*950G>A (n.*950G>A) c.1266G>A (p.Glu422=) c.*882G>A (n.*882G>A) c.2106+177320G>A (n.2106+177320G>A) | |
3 | g.184322027G>C | CA355390455 | EIF2B5,EIF4G1 | c.1443G>C (p.Glu481Asp) c.1377G>C (p.Glu459Asp) c.813G>C (p.Glu271Asp) c.855G>C (p.Glu285Asp) c.951G>C (p.Glu317Asp) c.1464G>C (p.Glu488Asp) c.1182G>C (p.Glu394Asp) c.1323G>C (p.Glu441Asp) c.*950G>C (n.*950G>C) c.1266G>C (p.Glu422Asp) c.*882G>C (n.*882G>C) c.2106+177320G>C (n.2106+177320G>C) | |
3 | g.184322027G>T | CA355390451 | EIF2B5,EIF4G1 | c.1443G>T (p.Glu481Asp) c.1377G>T (p.Glu459Asp) c.813G>T (p.Glu271Asp) c.855G>T (p.Glu285Asp) c.951G>T (p.Glu317Asp) c.1464G>T (p.Glu488Asp) c.1182G>T (p.Glu394Asp) c.1323G>T (p.Glu441Asp) c.*950G>T (n.*950G>T) c.1266G>T (p.Glu422Asp) c.*882G>T (n.*882G>T) c.2106+177320G>T (n.2106+177320G>T) | |
3 | g.184322028G>A | CA355390463 | EIF2B5,EIF4G1 | c.1444G>A (p.Glu482Lys) c.1378G>A (p.Glu460Lys) c.814G>A (p.Glu272Lys) c.856G>A (p.Glu286Lys) c.952G>A (p.Glu318Lys) c.1465G>A (p.Glu489Lys) c.1183G>A (p.Glu395Lys) c.1324G>A (p.Glu442Lys) c.*951G>A (n.*951G>A) c.1267G>A (p.Glu423Lys) c.*883G>A (n.*883G>A) c.2106+177321G>A (n.2106+177321G>A) | dbSNP gnomAD v4 |
3 | g.184322028G>C | CA88863427 | EIF2B5,EIF4G1 | c.1444G>C (p.Glu482Gln) c.1378G>C (p.Glu460Gln) c.814G>C (p.Glu272Gln) c.856G>C (p.Glu286Gln) c.952G>C (p.Glu318Gln) c.1465G>C (p.Glu489Gln) c.1183G>C (p.Glu395Gln) c.1324G>C (p.Glu442Gln) c.*951G>C (n.*951G>C) c.1267G>C (p.Glu423Gln) c.*883G>C (n.*883G>C) c.2106+177321G>C (n.2106+177321G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184322028G= | CA1425953117 | EIF2B5,EIF4G1 | c.1444G= (p.Glu482=) c.1378G= (p.Glu460=) c.814G= (p.Glu272=) c.856G= (p.Glu286=) c.952G= (p.Glu318=) c.1465G= (p.Glu489=) c.1183G= (p.Glu395=) c.1324G= (p.Glu442=) c.*951G= (n.*951G=) c.1267G= (p.Glu423=) c.*883G= (n.*883G=) c.2106+177321G= (n.2106+177321G=) | |
3 | g.184322028G>T | CA355390465 | EIF2B5,EIF4G1 | c.1444G>T (p.Glu482Ter) c.1378G>T (p.Glu460Ter) c.814G>T (p.Glu272Ter) c.856G>T (p.Glu286Ter) c.952G>T (p.Glu318Ter) c.1465G>T (p.Glu489Ter) c.1183G>T (p.Glu395Ter) c.1324G>T (p.Glu442Ter) c.*951G>T (n.*951G>T) c.1267G>T (p.Glu423Ter) c.*883G>T (n.*883G>T) c.2106+177321G>T (n.2106+177321G>T) | |
3 | g.184322029A>C | CA355390475 | EIF2B5,EIF4G1 | c.1445A>C (p.Glu482Ala) c.1379A>C (p.Glu460Ala) c.815A>C (p.Glu272Ala) c.857A>C (p.Glu286Ala) c.953A>C (p.Glu318Ala) c.1466A>C (p.Glu489Ala) c.1184A>C (p.Glu395Ala) c.1325A>C (p.Glu442Ala) c.*952A>C (n.*952A>C) c.1268A>C (p.Glu423Ala) c.*884A>C (n.*884A>C) c.2106+177322A>C (n.2106+177322A>C) | |
3 | g.184322029A>G | CA355390484 | EIF2B5,EIF4G1 | c.1445A>G (p.Glu482Gly) c.1379A>G (p.Glu460Gly) c.815A>G (p.Glu272Gly) c.857A>G (p.Glu286Gly) c.953A>G (p.Glu318Gly) c.1466A>G (p.Glu489Gly) c.1184A>G (p.Glu395Gly) c.1325A>G (p.Glu442Gly) c.*952A>G (n.*952A>G) c.1268A>G (p.Glu423Gly) c.*884A>G (n.*884A>G) c.2106+177322A>G (n.2106+177322A>G) | |
3 | g.184322029A>T | CA355390488 | EIF2B5,EIF4G1 | c.1445A>T (p.Glu482Val) c.1379A>T (p.Glu460Val) c.815A>T (p.Glu272Val) c.857A>T (p.Glu286Val) c.953A>T (p.Glu318Val) c.1466A>T (p.Glu489Val) c.1184A>T (p.Glu395Val) c.1325A>T (p.Glu442Val) c.*952A>T (n.*952A>T) c.1268A>T (p.Glu423Val) c.*884A>T (n.*884A>T) c.2106+177322A>T (n.2106+177322A>T) | |
3 | g.184322030A= | CA1425953122 | EIF2B5,EIF4G1 | c.1446A= (p.Glu482=) c.1380A= (p.Glu460=) c.816A= (p.Glu272=) c.858A= (p.Glu286=) c.954A= (p.Glu318=) c.1467A= (p.Glu489=) c.1185A= (p.Glu395=) c.1326A= (p.Glu442=) c.*953A= (n.*953A=) c.1269A= (p.Glu423=) c.*885A= (n.*885A=) c.2106+177323A= (n.2106+177323A=) | |
3 | g.184322030A>C | CA355390503 | EIF2B5,EIF4G1 | c.1446A>C (p.Glu482Asp) c.1380A>C (p.Glu460Asp) c.816A>C (p.Glu272Asp) c.858A>C (p.Glu286Asp) c.954A>C (p.Glu318Asp) c.1467A>C (p.Glu489Asp) c.1185A>C (p.Glu395Asp) c.1326A>C (p.Glu442Asp) c.*953A>C (n.*953A>C) c.1269A>C (p.Glu423Asp) c.*885A>C (n.*885A>C) c.2106+177323A>C (n.2106+177323A>C) | |
3 | g.184322030A>G | CA437329668 | EIF2B5,EIF4G1 | c.1446A>G (p.Glu482=) c.1380A>G (p.Glu460=) c.816A>G (p.Glu272=) c.858A>G (p.Glu286=) c.954A>G (p.Glu318=) c.1467A>G (p.Glu489=) c.1185A>G (p.Glu395=) c.1326A>G (p.Glu442=) c.*953A>G (n.*953A>G) c.1269A>G (p.Glu423=) c.*885A>G (n.*885A>G) c.2106+177323A>G (n.2106+177323A>G) | dbSNP |
3 | g.184322030A>T | CA355390499 | EIF2B5,EIF4G1 | c.1446A>T (p.Glu482Asp) c.1380A>T (p.Glu460Asp) c.816A>T (p.Glu272Asp) c.858A>T (p.Glu286Asp) c.954A>T (p.Glu318Asp) c.1467A>T (p.Glu489Asp) c.1185A>T (p.Glu395Asp) c.1326A>T (p.Glu442Asp) c.*953A>T (n.*953A>T) c.1269A>T (p.Glu423Asp) c.*885A>T (n.*885A>T) c.2106+177323A>T (n.2106+177323A>T) | dbSNP |
3 | g.184322031C>A | CA355390507 | EIF2B5,EIF4G1 | c.1447C>A (p.Leu483Met) c.1381C>A (p.Leu461Met) c.817C>A (p.Leu273Met) c.859C>A (p.Leu287Met) c.955C>A (p.Leu319Met) c.1468C>A (p.Leu490Met) c.1186C>A (p.Leu396Met) c.1327C>A (p.Leu443Met) c.*954C>A (n.*954C>A) c.1270C>A (p.Leu424Met) c.*886C>A (n.*886C>A) c.2106+177324C>A (n.2106+177324C>A) | |
3 | g.184322031C= | CA1425953126 | EIF2B5,EIF4G1 | c.1447C= (p.Leu483=) c.1381C= (p.Leu461=) c.817C= (p.Leu273=) c.859C= (p.Leu287=) c.955C= (p.Leu319=) c.1468C= (p.Leu490=) c.1186C= (p.Leu396=) c.1327C= (p.Leu443=) c.*954C= (n.*954C=) c.1270C= (p.Leu424=) c.*886C= (n.*886C=) c.2106+177324C= (n.2106+177324C=) | |
3 | g.184322031C>G | CA2732193 | EIF2B5,EIF4G1 | c.1447C>G (p.Leu483Val) c.1381C>G (p.Leu461Val) c.817C>G (p.Leu273Val) c.859C>G (p.Leu287Val) c.955C>G (p.Leu319Val) c.1468C>G (p.Leu490Val) c.1186C>G (p.Leu396Val) c.1327C>G (p.Leu443Val) c.*954C>G (n.*954C>G) c.1270C>G (p.Leu424Val) c.*886C>G (n.*886C>G) c.2106+177324C>G (n.2106+177324C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184322031C>T | CA437329670 | EIF2B5,EIF4G1 | c.1447C>T (p.Leu483=) c.1381C>T (p.Leu461=) c.817C>T (p.Leu273=) c.859C>T (p.Leu287=) c.955C>T (p.Leu319=) c.1468C>T (p.Leu490=) c.1186C>T (p.Leu396=) c.1327C>T (p.Leu443=) c.*954C>T (n.*954C>T) c.1270C>T (p.Leu424=) c.*886C>T (n.*886C>T) c.2106+177324C>T (n.2106+177324C>T) | |
3 | g.184322032T>A | CA355390509 | EIF2B5,EIF4G1 | c.1448T>A (p.Leu483Gln) c.1382T>A (p.Leu461Gln) c.818T>A (p.Leu273Gln) c.860T>A (p.Leu287Gln) c.956T>A (p.Leu319Gln) c.1469T>A (p.Leu490Gln) c.1187T>A (p.Leu396Gln) c.1328T>A (p.Leu443Gln) c.*955T>A (n.*955T>A) c.1271T>A (p.Leu424Gln) c.*887T>A (n.*887T>A) c.2106+177325T>A (n.2106+177325T>A) | |
3 | g.184322032T>C | CA355390511 | EIF2B5,EIF4G1 | c.1448T>C (p.Leu483Pro) c.1382T>C (p.Leu461Pro) c.818T>C (p.Leu273Pro) c.860T>C (p.Leu287Pro) c.956T>C (p.Leu319Pro) c.1469T>C (p.Leu490Pro) c.1187T>C (p.Leu396Pro) c.1328T>C (p.Leu443Pro) c.*955T>C (n.*955T>C) c.1271T>C (p.Leu424Pro) c.*887T>C (n.*887T>C) c.2106+177325T>C (n.2106+177325T>C) | |
3 | g.184322032T>G | CA355390515 | EIF2B5,EIF4G1 | c.1448T>G (p.Leu483Arg) c.1382T>G (p.Leu461Arg) c.818T>G (p.Leu273Arg) c.860T>G (p.Leu287Arg) c.956T>G (p.Leu319Arg) c.1469T>G (p.Leu490Arg) c.1187T>G (p.Leu396Arg) c.1328T>G (p.Leu443Arg) c.*955T>G (n.*955T>G) c.1271T>G (p.Leu424Arg) c.*887T>G (n.*887T>G) c.2106+177325T>G (n.2106+177325T>G) | |
3 | g.184322033G>A | CA2732194 | EIF2B5,EIF4G1 | c.1449G>A (p.Leu483=) c.1383G>A (p.Leu461=) c.819G>A (p.Leu273=) c.861G>A (p.Leu287=) c.957G>A (p.Leu319=) c.1470G>A (p.Leu490=) c.1188G>A (p.Leu396=) c.1329G>A (p.Leu443=) c.*956G>A (n.*956G>A) c.1272G>A (p.Leu424=) c.*888G>A (n.*888G>A) c.2106+177326G>A (n.2106+177326G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322033G>C | CA437329672 | EIF2B5,EIF4G1 | c.1449G>C (p.Leu483=) c.1383G>C (p.Leu461=) c.819G>C (p.Leu273=) c.861G>C (p.Leu287=) c.957G>C (p.Leu319=) c.1470G>C (p.Leu490=) c.1188G>C (p.Leu396=) c.1329G>C (p.Leu443=) c.*956G>C (n.*956G>C) c.1272G>C (p.Leu424=) c.*888G>C (n.*888G>C) c.2106+177326G>C (n.2106+177326G>C) | gnomAD v4 |
3 | g.184322033G= | CA1425953129 | EIF2B5,EIF4G1 | c.1449G= (p.Leu483=) c.1383G= (p.Leu461=) c.819G= (p.Leu273=) c.861G= (p.Leu287=) c.957G= (p.Leu319=) c.1470G= (p.Leu490=) c.1188G= (p.Leu396=) c.1329G= (p.Leu443=) c.*956G= (n.*956G=) c.1272G= (p.Leu424=) c.*888G= (n.*888G=) c.2106+177326G= (n.2106+177326G=) | |
3 | g.184322033G>T | CA437329671 | EIF2B5,EIF4G1 | c.1449G>T (p.Leu483=) c.1383G>T (p.Leu461=) c.819G>T (p.Leu273=) c.861G>T (p.Leu287=) c.957G>T (p.Leu319=) c.1470G>T (p.Leu490=) c.1188G>T (p.Leu396=) c.1329G>T (p.Leu443=) c.*956G>T (n.*956G>T) c.1272G>T (p.Leu424=) c.*888G>T (n.*888G>T) c.2106+177326G>T (n.2106+177326G>T) | |
3 | g.184322034C>A | CA355390522 | EIF2B5,EIF4G1 | c.1450C>A (p.Leu484Ile) c.1384C>A (p.Leu462Ile) c.820C>A (p.Leu274Ile) c.862C>A (p.Leu288Ile) c.958C>A (p.Leu320Ile) c.1471C>A (p.Leu491Ile) c.1189C>A (p.Leu397Ile) c.1330C>A (p.Leu444Ile) c.*957C>A (n.*957C>A) c.1273C>A (p.Leu425Ile) c.*889C>A (n.*889C>A) c.2106+177327C>A (n.2106+177327C>A) | |
3 | g.184322034C= | CA1425953134 | EIF2B5,EIF4G1 | c.1450C= (p.Leu484=) c.1384C= (p.Leu462=) c.820C= (p.Leu274=) c.862C= (p.Leu288=) c.958C= (p.Leu320=) c.1471C= (p.Leu491=) c.1189C= (p.Leu397=) c.1330C= (p.Leu444=) c.*957C= (n.*957C=) c.1273C= (p.Leu425=) c.*889C= (n.*889C=) c.2106+177327C= (n.2106+177327C=) | |
3 | g.184322034C>G | CA355390533 | EIF2B5,EIF4G1 | c.1450C>G (p.Leu484Val) c.1384C>G (p.Leu462Val) c.820C>G (p.Leu274Val) c.862C>G (p.Leu288Val) c.958C>G (p.Leu320Val) c.1471C>G (p.Leu491Val) c.1189C>G (p.Leu397Val) c.1330C>G (p.Leu444Val) c.*957C>G (n.*957C>G) c.1273C>G (p.Leu425Val) c.*889C>G (n.*889C>G) c.2106+177327C>G (n.2106+177327C>G) | |
3 | g.184322034C>T | CA2732195 | EIF2B5,EIF4G1 | c.1450C>T (p.Leu484Phe) c.1384C>T (p.Leu462Phe) c.820C>T (p.Leu274Phe) c.862C>T (p.Leu288Phe) c.958C>T (p.Leu320Phe) c.1471C>T (p.Leu491Phe) c.1189C>T (p.Leu397Phe) c.1330C>T (p.Leu444Phe) c.*957C>T (n.*957C>T) c.1273C>T (p.Leu425Phe) c.*889C>T (n.*889C>T) c.2106+177327C>T (n.2106+177327C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322035T>A | CA355390549 | EIF2B5,EIF4G1 | c.1451T>A (p.Leu484His) c.1385T>A (p.Leu462His) c.821T>A (p.Leu274His) c.863T>A (p.Leu288His) c.959T>A (p.Leu320His) c.1472T>A (p.Leu491His) c.1190T>A (p.Leu397His) c.1331T>A (p.Leu444His) c.*958T>A (n.*958T>A) c.1274T>A (p.Leu425His) c.*890T>A (n.*890T>A) c.2106+177328T>A (n.2106+177328T>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184322035T>C | CA355390554 | EIF2B5,EIF4G1 | c.1451T>C (p.Leu484Pro) c.1385T>C (p.Leu462Pro) c.821T>C (p.Leu274Pro) c.863T>C (p.Leu288Pro) c.959T>C (p.Leu320Pro) c.1472T>C (p.Leu491Pro) c.1190T>C (p.Leu397Pro) c.1331T>C (p.Leu444Pro) c.*958T>C (n.*958T>C) c.1274T>C (p.Leu425Pro) c.*890T>C (n.*890T>C) c.2106+177328T>C (n.2106+177328T>C) | |
3 | g.184322035T>G | CA355390571 | EIF2B5,EIF4G1 | c.1451T>G (p.Leu484Arg) c.1385T>G (p.Leu462Arg) c.821T>G (p.Leu274Arg) c.863T>G (p.Leu288Arg) c.959T>G (p.Leu320Arg) c.1472T>G (p.Leu491Arg) c.1190T>G (p.Leu397Arg) c.1331T>G (p.Leu444Arg) c.*958T>G (n.*958T>G) c.1274T>G (p.Leu425Arg) c.*890T>G (n.*890T>G) c.2106+177328T>G (n.2106+177328T>G) | |
3 | g.184322035T= | CA1425953138 | EIF2B5,EIF4G1 | c.1451T= (p.Leu484=) c.1385T= (p.Leu462=) c.821T= (p.Leu274=) c.863T= (p.Leu288=) c.959T= (p.Leu320=) c.1472T= (p.Leu491=) c.1190T= (p.Leu397=) c.1331T= (p.Leu444=) c.*958T= (n.*958T=) c.1274T= (p.Leu425=) c.*890T= (n.*890T=) c.2106+177328T= (n.2106+177328T=) | |
3 | g.184322035_184322036delinsTC | CA1425953139 | EIF2B5,EIF4G1 | c.1451_1452delinsTC (p.Leu484=) c.1385_1386delinsTC (p.Leu462=) c.821_822delinsTC (p.Leu274=) c.863_864delinsTC (p.Leu288=) c.959_960delinsTC (p.Leu320=) c.1472_1473delinsTC (p.Leu491=) c.1190_1191delinsTC (p.Leu397=) c.1331_1332delinsTC (p.Leu444=) c.*958_*959delinsTC (n.*958_*959delinsTC) c.1274_1275delinsTC (p.Leu425=) c.*890_*891delinsTC (n.*890_*891delinsTC) c.2106+177328_2106+177329delinsTC (n.2106+177328_2106+177329delinsTC) | |
3 | g.184322036C>A | CA437329675 | EIF2B5,EIF4G1 | c.1452C>A (p.Leu484=) c.1386C>A (p.Leu462=) c.822C>A (p.Leu274=) c.864C>A (p.Leu288=) c.960C>A (p.Leu320=) c.1473C>A (p.Leu491=) c.1191C>A (p.Leu397=) c.1332C>A (p.Leu444=) c.*959C>A (n.*959C>A) c.1275C>A (p.Leu425=) c.*891C>A (n.*891C>A) c.2106+177329C>A (n.2106+177329C>A) | gnomAD v4 |
3 | g.184322036C= | CA1425953144 | EIF2B5,EIF4G1 | c.1452C= (p.Leu484=) c.1386C= (p.Leu462=) c.822C= (p.Leu274=) c.864C= (p.Leu288=) c.960C= (p.Leu320=) c.1473C= (p.Leu491=) c.1191C= (p.Leu397=) c.1332C= (p.Leu444=) c.*959C= (n.*959C=) c.1275C= (p.Leu425=) c.*891C= (n.*891C=) c.2106+177329C= (n.2106+177329C=) | |
3 | g.184322036C>G | CA437329673 | EIF2B5,EIF4G1 | c.1452C>G (p.Leu484=) c.1386C>G (p.Leu462=) c.822C>G (p.Leu274=) c.864C>G (p.Leu288=) c.960C>G (p.Leu320=) c.1473C>G (p.Leu491=) c.1191C>G (p.Leu397=) c.1332C>G (p.Leu444=) c.*959C>G (n.*959C>G) c.1275C>G (p.Leu425=) c.*891C>G (n.*891C>G) c.2106+177329C>G (n.2106+177329C>G) | |
3 | g.184322036C>T | CA437329674 | EIF2B5,EIF4G1 | c.1452C>T (p.Leu484=) c.1386C>T (p.Leu462=) c.822C>T (p.Leu274=) c.864C>T (p.Leu288=) c.960C>T (p.Leu320=) c.1473C>T (p.Leu491=) c.1191C>T (p.Leu397=) c.1332C>T (p.Leu444=) c.*959C>T (n.*959C>T) c.1275C>T (p.Leu425=) c.*891C>T (n.*891C>T) c.2106+177329C>T (n.2106+177329C>T) | dbSNP gnomAD v4 |
3 | g.184322041dup | CA548795502 | EIF2B5,EIF4G1 | c.1457dup (p.Glu487ArgfsTer?) c.1391dup (p.Glu465ArgfsTer?) c.827dup (p.Glu277ArgfsTer?) c.869dup (p.Glu291ArgfsTer?) c.965dup (p.Glu323ArgfsTer?) c.1478dup (p.Glu494ArgfsTer?) c.1196dup (p.Glu400ArgfsTer?) c.1337dup (p.Glu447ArgfsTer?) c.*964dup (n.*964dup) c.1280dup (p.Glu428ArgfsTer?) c.*896dup (n.*896dup) c.2106+177334dup (n.2106+177334dup) | gnomAD v2 |
3 | g.184322041del | CA917083526 | EIF2B5,EIF4G1 | c.1457del (p.Pro486GlnfsTer?) c.1391del (p.Pro464GlnfsTer?) c.827del (p.Pro276GlnfsTer?) c.869del (p.Pro290GlnfsTer?) c.965del (p.Pro322GlnfsTer?) c.1478del (p.Pro493GlnfsTer?) c.1196del (p.Pro399GlnfsTer?) c.1337del (p.Pro446GlnfsTer?) c.*964del (n.*964del) c.1280del (p.Pro427GlnfsTer?) c.*896del (n.*896del) c.2106+177334del (n.2106+177334del) | dbSNP |
3 | g.184322037C>A | CA355390576 | EIF2B5,EIF4G1 | c.1453C>A (p.Pro485Thr) c.1387C>A (p.Pro463Thr) c.823C>A (p.Pro275Thr) c.865C>A (p.Pro289Thr) c.961C>A (p.Pro321Thr) c.1474C>A (p.Pro492Thr) c.1192C>A (p.Pro398Thr) c.1333C>A (p.Pro445Thr) c.*960C>A (n.*960C>A) c.1276C>A (p.Pro426Thr) c.*892C>A (n.*892C>A) c.2106+177330C>A (n.2106+177330C>A) | |
3 | g.184322037C= | CA1425953147 | EIF2B5,EIF4G1 | c.1453C= (p.Pro485=) c.1387C= (p.Pro463=) c.823C= (p.Pro275=) c.865C= (p.Pro289=) c.961C= (p.Pro321=) c.1474C= (p.Pro492=) c.1192C= (p.Pro398=) c.1333C= (p.Pro445=) c.*960C= (n.*960C=) c.1276C= (p.Pro426=) c.*892C= (n.*892C=) c.2106+177330C= (n.2106+177330C=) | |
3 | g.184322037C>G | CA355390585 | EIF2B5,EIF4G1 | c.1453C>G (p.Pro485Ala) c.1387C>G (p.Pro463Ala) c.823C>G (p.Pro275Ala) c.865C>G (p.Pro289Ala) c.961C>G (p.Pro321Ala) c.1474C>G (p.Pro492Ala) c.1192C>G (p.Pro398Ala) c.1333C>G (p.Pro445Ala) c.*960C>G (n.*960C>G) c.1276C>G (p.Pro426Ala) c.*892C>G (n.*892C>G) c.2106+177330C>G (n.2106+177330C>G) | |
3 | g.184322037C>T | CA2732196 | EIF2B5,EIF4G1 | c.1453C>T (p.Pro485Ser) c.1387C>T (p.Pro463Ser) c.823C>T (p.Pro275Ser) c.865C>T (p.Pro289Ser) c.961C>T (p.Pro321Ser) c.1474C>T (p.Pro492Ser) c.1192C>T (p.Pro398Ser) c.1333C>T (p.Pro445Ser) c.*960C>T (n.*960C>T) c.1276C>T (p.Pro426Ser) c.*892C>T (n.*892C>T) c.2106+177330C>T (n.2106+177330C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322038C>A | CA355390599 | EIF2B5,EIF4G1 | c.1454C>A (p.Pro485His) c.1388C>A (p.Pro463His) c.824C>A (p.Pro275His) c.866C>A (p.Pro289His) c.962C>A (p.Pro321His) c.1475C>A (p.Pro492His) c.1193C>A (p.Pro398His) c.1334C>A (p.Pro445His) c.*961C>A (n.*961C>A) c.1277C>A (p.Pro426His) c.*893C>A (n.*893C>A) c.2106+177331C>A (n.2106+177331C>A) | |
3 | g.184322038C= | CA1425953150 | EIF2B5,EIF4G1 | c.1454C= (p.Pro485=) c.1388C= (p.Pro463=) c.824C= (p.Pro275=) c.866C= (p.Pro289=) c.962C= (p.Pro321=) c.1475C= (p.Pro492=) c.1193C= (p.Pro398=) c.1334C= (p.Pro445=) c.*961C= (n.*961C=) c.1277C= (p.Pro426=) c.*893C= (n.*893C=) c.2106+177331C= (n.2106+177331C=) | |
3 | g.184322038C>G | CA355390601 | EIF2B5,EIF4G1 | c.1454C>G (p.Pro485Arg) c.1388C>G (p.Pro463Arg) c.824C>G (p.Pro275Arg) c.866C>G (p.Pro289Arg) c.962C>G (p.Pro321Arg) c.1475C>G (p.Pro492Arg) c.1193C>G (p.Pro398Arg) c.1334C>G (p.Pro445Arg) c.*961C>G (n.*961C>G) c.1277C>G (p.Pro426Arg) c.*893C>G (n.*893C>G) c.2106+177331C>G (n.2106+177331C>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184322038C>T | CA355390608 | EIF2B5,EIF4G1 | c.1454C>T (p.Pro485Leu) c.1388C>T (p.Pro463Leu) c.824C>T (p.Pro275Leu) c.866C>T (p.Pro289Leu) c.962C>T (p.Pro321Leu) c.1475C>T (p.Pro492Leu) c.1193C>T (p.Pro398Leu) c.1334C>T (p.Pro445Leu) c.*961C>T (n.*961C>T) c.1277C>T (p.Pro426Leu) c.*893C>T (n.*893C>T) c.2106+177331C>T (n.2106+177331C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184322039C>A | CA2732197 | EIF2B5,EIF4G1 | c.1455C>A (p.Pro485=) c.1389C>A (p.Pro463=) c.825C>A (p.Pro275=) c.867C>A (p.Pro289=) c.963C>A (p.Pro321=) c.1476C>A (p.Pro492=) c.1194C>A (p.Pro398=) c.1335C>A (p.Pro445=) c.*962C>A (n.*962C>A) c.1278C>A (p.Pro426=) c.*894C>A (n.*894C>A) c.2106+177332C>A (n.2106+177332C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322039C= | CA1425953152 | EIF2B5,EIF4G1 | c.1455C= (p.Pro485=) c.1389C= (p.Pro463=) c.825C= (p.Pro275=) c.867C= (p.Pro289=) c.963C= (p.Pro321=) c.1476C= (p.Pro492=) c.1194C= (p.Pro398=) c.1335C= (p.Pro445=) c.*962C= (n.*962C=) c.1278C= (p.Pro426=) c.*894C= (n.*894C=) c.2106+177332C= (n.2106+177332C=) | |
3 | g.184322039C>G | CA437329677 | EIF2B5,EIF4G1 | c.1455C>G (p.Pro485=) c.1389C>G (p.Pro463=) c.825C>G (p.Pro275=) c.867C>G (p.Pro289=) c.963C>G (p.Pro321=) c.1476C>G (p.Pro492=) c.1194C>G (p.Pro398=) c.1335C>G (p.Pro445=) c.*962C>G (n.*962C>G) c.1278C>G (p.Pro426=) c.*894C>G (n.*894C>G) c.2106+177332C>G (n.2106+177332C>G) | gnomAD v4 |
3 | g.184322039C>T | CA437329676 | EIF2B5,EIF4G1 | c.1455C>T (p.Pro485=) c.1389C>T (p.Pro463=) c.825C>T (p.Pro275=) c.867C>T (p.Pro289=) c.963C>T (p.Pro321=) c.1476C>T (p.Pro492=) c.1194C>T (p.Pro398=) c.1335C>T (p.Pro445=) c.*962C>T (n.*962C>T) c.1278C>T (p.Pro426=) c.*894C>T (n.*894C>T) c.2106+177332C>T (n.2106+177332C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322040C>A | CA355390617 | EIF2B5,EIF4G1 | c.1456C>A (p.Pro486Thr) c.1390C>A (p.Pro464Thr) c.826C>A (p.Pro276Thr) c.868C>A (p.Pro290Thr) c.964C>A (p.Pro322Thr) c.1477C>A (p.Pro493Thr) c.1195C>A (p.Pro399Thr) c.1336C>A (p.Pro446Thr) c.*963C>A (n.*963C>A) c.1279C>A (p.Pro427Thr) c.*895C>A (n.*895C>A) c.2106+177333C>A (n.2106+177333C>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184322040C= | CA1425953155 | EIF2B5,EIF4G1 | c.1456C= (p.Pro486=) c.1390C= (p.Pro464=) c.826C= (p.Pro276=) c.868C= (p.Pro290=) c.964C= (p.Pro322=) c.1477C= (p.Pro493=) c.1195C= (p.Pro399=) c.1336C= (p.Pro446=) c.*963C= (n.*963C=) c.1279C= (p.Pro427=) c.*895C= (n.*895C=) c.2106+177333C= (n.2106+177333C=) | |
3 | g.184322040C>G | CA2732199 | EIF2B5,EIF4G1 | c.1456C>G (p.Pro486Ala) c.1390C>G (p.Pro464Ala) c.826C>G (p.Pro276Ala) c.868C>G (p.Pro290Ala) c.964C>G (p.Pro322Ala) c.1477C>G (p.Pro493Ala) c.1195C>G (p.Pro399Ala) c.1336C>G (p.Pro446Ala) c.*963C>G (n.*963C>G) c.1279C>G (p.Pro427Ala) c.*895C>G (n.*895C>G) c.2106+177333C>G (n.2106+177333C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184322040C>T | CA2732198 | EIF2B5,EIF4G1 | c.1456C>T (p.Pro486Ser) c.1390C>T (p.Pro464Ser) c.826C>T (p.Pro276Ser) c.868C>T (p.Pro290Ser) c.964C>T (p.Pro322Ser) c.1477C>T (p.Pro493Ser) c.1195C>T (p.Pro399Ser) c.1336C>T (p.Pro446Ser) c.*963C>T (n.*963C>T) c.1279C>T (p.Pro427Ser) c.*895C>T (n.*895C>T) c.2106+177333C>T (n.2106+177333C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322041C>A | CA355390618 | EIF2B5,EIF4G1 | c.1457C>A (p.Pro486Gln) c.1391C>A (p.Pro464Gln) c.827C>A (p.Pro276Gln) c.869C>A (p.Pro290Gln) c.965C>A (p.Pro322Gln) c.1478C>A (p.Pro493Gln) c.1196C>A (p.Pro399Gln) c.1337C>A (p.Pro446Gln) c.*964C>A (n.*964C>A) c.1280C>A (p.Pro427Gln) c.*896C>A (n.*896C>A) c.2106+177334C>A (n.2106+177334C>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184322041C= | CA1425953158 | EIF2B5,EIF4G1 | c.1457C= (p.Pro486=) c.1391C= (p.Pro464=) c.827C= (p.Pro276=) c.869C= (p.Pro290=) c.965C= (p.Pro322=) c.1478C= (p.Pro493=) c.1196C= (p.Pro399=) c.1337C= (p.Pro446=) c.*964C= (n.*964C=) c.1280C= (p.Pro427=) c.*896C= (n.*896C=) c.2106+177334C= (n.2106+177334C=) | |
3 | g.184322041C>G | CA355390623 | EIF2B5,EIF4G1 | c.1457C>G (p.Pro486Arg) c.1391C>G (p.Pro464Arg) c.827C>G (p.Pro276Arg) c.869C>G (p.Pro290Arg) c.965C>G (p.Pro322Arg) c.1478C>G (p.Pro493Arg) c.1196C>G (p.Pro399Arg) c.1337C>G (p.Pro446Arg) c.*964C>G (n.*964C>G) c.1280C>G (p.Pro427Arg) c.*896C>G (n.*896C>G) c.2106+177334C>G (n.2106+177334C>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184322041C>T | CA2732200 | EIF2B5,EIF4G1 | c.1457C>T (p.Pro486Leu) c.1391C>T (p.Pro464Leu) c.827C>T (p.Pro276Leu) c.869C>T (p.Pro290Leu) c.965C>T (p.Pro322Leu) c.1478C>T (p.Pro493Leu) c.1196C>T (p.Pro399Leu) c.1337C>T (p.Pro446Leu) c.*964C>T (n.*964C>T) c.1280C>T (p.Pro427Leu) c.*896C>T (n.*896C>T) c.2106+177334C>T (n.2106+177334C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322042A= | CA1425953161 | EIF2B5,EIF4G1 | c.1458A= (p.Pro486=) c.1392A= (p.Pro464=) c.828A= (p.Pro276=) c.870A= (p.Pro290=) c.966A= (p.Pro322=) c.1479A= (p.Pro493=) c.1197A= (p.Pro399=) c.1338A= (p.Pro446=) c.*965A= (n.*965A=) c.1281A= (p.Pro427=) c.*897A= (n.*897A=) c.2106+177335A= (n.2106+177335A=) | |
3 | g.184322042A>C | CA2732201 | EIF2B5,EIF4G1 | c.1458A>C (p.Pro486=) c.1392A>C (p.Pro464=) c.828A>C (p.Pro276=) c.870A>C (p.Pro290=) c.966A>C (p.Pro322=) c.1479A>C (p.Pro493=) c.1197A>C (p.Pro399=) c.1338A>C (p.Pro446=) c.*965A>C (n.*965A>C) c.1281A>C (p.Pro427=) c.*897A>C (n.*897A>C) c.2106+177335A>C (n.2106+177335A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184322042A>G | CA437329678 | EIF2B5,EIF4G1 | c.1458A>G (p.Pro486=) c.1392A>G (p.Pro464=) c.828A>G (p.Pro276=) c.870A>G (p.Pro290=) c.966A>G (p.Pro322=) c.1479A>G (p.Pro493=) c.1197A>G (p.Pro399=) c.1338A>G (p.Pro446=) c.*965A>G (n.*965A>G) c.1281A>G (p.Pro427=) c.*897A>G (n.*897A>G) c.2106+177335A>G (n.2106+177335A>G) | |
3 | g.184322042A>T | CA2732202 | EIF2B5,EIF4G1 | c.1458A>T (p.Pro486=) c.1392A>T (p.Pro464=) c.828A>T (p.Pro276=) c.870A>T (p.Pro290=) c.966A>T (p.Pro322=) c.1479A>T (p.Pro493=) c.1197A>T (p.Pro399=) c.1338A>T (p.Pro446=) c.*965A>T (n.*965A>T) c.1281A>T (p.Pro427=) c.*897A>T (n.*897A>T) c.2106+177335A>T (n.2106+177335A>T) | dbSNP ExAC gnomAD v2 |
3 | g.184322043G>A | CA355390627 | EIF2B5,EIF4G1 | c.1459G>A (p.Glu487Lys) c.1393G>A (p.Glu465Lys) c.829G>A (p.Glu277Lys) c.871G>A (p.Glu291Lys) c.967G>A (p.Glu323Lys) c.1480G>A (p.Glu494Lys) c.1198G>A (p.Glu400Lys) c.1339G>A (p.Glu447Lys) c.*966G>A (n.*966G>A) c.1282G>A (p.Glu428Lys) c.*898G>A (n.*898G>A) c.2106+177336G>A (n.2106+177336G>A) | |
3 | g.184322043G>C | CA355390628 | EIF2B5,EIF4G1 | c.1459G>C (p.Glu487Gln) c.1393G>C (p.Glu465Gln) c.829G>C (p.Glu277Gln) c.871G>C (p.Glu291Gln) c.967G>C (p.Glu323Gln) c.1480G>C (p.Glu494Gln) c.1198G>C (p.Glu400Gln) c.1339G>C (p.Glu447Gln) c.*966G>C (n.*966G>C) c.1282G>C (p.Glu428Gln) c.*898G>C (n.*898G>C) c.2106+177336G>C (n.2106+177336G>C) | |
3 | g.184322043G>T | CA355390629 | EIF2B5,EIF4G1 | c.1459G>T (p.Glu487Ter) c.1393G>T (p.Glu465Ter) c.829G>T (p.Glu277Ter) c.871G>T (p.Glu291Ter) c.967G>T (p.Glu323Ter) c.1480G>T (p.Glu494Ter) c.1198G>T (p.Glu400Ter) c.1339G>T (p.Glu447Ter) c.*966G>T (n.*966G>T) c.1282G>T (p.Glu428Ter) c.*898G>T (n.*898G>T) c.2106+177336G>T (n.2106+177336G>T) | |
3 | g.184322044A>C | CA355390630 | EIF2B5,EIF4G1 | c.1460A>C (p.Glu487Ala) c.1394A>C (p.Glu465Ala) c.830A>C (p.Glu277Ala) c.872A>C (p.Glu291Ala) c.968A>C (p.Glu323Ala) c.1481A>C (p.Glu494Ala) c.1199A>C (p.Glu400Ala) c.1340A>C (p.Glu447Ala) c.*967A>C (n.*967A>C) c.1283A>C (p.Glu428Ala) c.*899A>C (n.*899A>C) c.2106+177337A>C (n.2106+177337A>C) | |
3 | g.184322044A>G | CA355390632 | EIF2B5,EIF4G1 | c.1460A>G (p.Glu487Gly) c.1394A>G (p.Glu465Gly) c.830A>G (p.Glu277Gly) c.872A>G (p.Glu291Gly) c.968A>G (p.Glu323Gly) c.1481A>G (p.Glu494Gly) c.1199A>G (p.Glu400Gly) c.1340A>G (p.Glu447Gly) c.*967A>G (n.*967A>G) c.1283A>G (p.Glu428Gly) c.*899A>G (n.*899A>G) c.2106+177337A>G (n.2106+177337A>G) | |
3 | g.184322044A>T | CA355390634 | EIF2B5,EIF4G1 | c.1460A>T (p.Glu487Val) c.1394A>T (p.Glu465Val) c.830A>T (p.Glu277Val) c.872A>T (p.Glu291Val) c.968A>T (p.Glu323Val) c.1481A>T (p.Glu494Val) c.1199A>T (p.Glu400Val) c.1340A>T (p.Glu447Val) c.*967A>T (n.*967A>T) c.1283A>T (p.Glu428Val) c.*899A>T (n.*899A>T) c.2106+177337A>T (n.2106+177337A>T) | |
3 | g.184322045G>A | CA437329679 | EIF2B5,EIF4G1 | c.1461G>A (p.Glu487=) c.1395G>A (p.Glu465=) c.831G>A (p.Glu277=) c.873G>A (p.Glu291=) c.969G>A (p.Glu323=) c.1482G>A (p.Glu494=) c.1200G>A (p.Glu400=) c.1341G>A (p.Glu447=) c.*968G>A (n.*968G>A) c.1284G>A (p.Glu428=) c.*900G>A (n.*900G>A) c.2106+177338G>A (n.2106+177338G>A) | |
3 | g.184322045G>C | CA355390637 | EIF2B5,EIF4G1 | c.1461G>C (p.Glu487Asp) c.1395G>C (p.Glu465Asp) c.831G>C (p.Glu277Asp) c.873G>C (p.Glu291Asp) c.969G>C (p.Glu323Asp) c.1482G>C (p.Glu494Asp) c.1200G>C (p.Glu400Asp) c.1341G>C (p.Glu447Asp) c.*968G>C (n.*968G>C) c.1284G>C (p.Glu428Asp) c.*900G>C (n.*900G>C) c.2106+177338G>C (n.2106+177338G>C) | gnomAD v4 |
3 | g.184322045G>T | CA355390641 | EIF2B5,EIF4G1 | c.1461G>T (p.Glu487Asp) c.1395G>T (p.Glu465Asp) c.831G>T (p.Glu277Asp) c.873G>T (p.Glu291Asp) c.969G>T (p.Glu323Asp) c.1482G>T (p.Glu494Asp) c.1200G>T (p.Glu400Asp) c.1341G>T (p.Glu447Asp) c.*968G>T (n.*968G>T) c.1284G>T (p.Glu428Asp) c.*900G>T (n.*900G>T) c.2106+177338G>T (n.2106+177338G>T) | |
3 | g.184322046A>C | CA355390652 | EIF2B5,EIF4G1 | c.1462A>C (p.Ser488Arg) c.1396A>C (p.Ser466Arg) c.832A>C (p.Ser278Arg) c.874A>C (p.Ser292Arg) c.970A>C (p.Ser324Arg) c.1483A>C (p.Ser495Arg) c.1201A>C (p.Ser401Arg) c.1342A>C (p.Ser448Arg) c.*969A>C (n.*969A>C) c.1285A>C (p.Ser429Arg) c.*901A>C (n.*901A>C) c.2106+177339A>C (n.2106+177339A>C) | |
3 | g.184322046A>G | CA355390650 | EIF2B5,EIF4G1 | c.1462A>G (p.Ser488Gly) c.1396A>G (p.Ser466Gly) c.832A>G (p.Ser278Gly) c.874A>G (p.Ser292Gly) c.970A>G (p.Ser324Gly) c.1483A>G (p.Ser495Gly) c.1201A>G (p.Ser401Gly) c.1342A>G (p.Ser448Gly) c.*969A>G (n.*969A>G) c.1285A>G (p.Ser429Gly) c.*901A>G (n.*901A>G) c.2106+177339A>G (n.2106+177339A>G) | |
3 | g.184322046A>T | CA355390648 | EIF2B5,EIF4G1 | c.1462A>T (p.Ser488Cys) c.1396A>T (p.Ser466Cys) c.832A>T (p.Ser278Cys) c.874A>T (p.Ser292Cys) c.970A>T (p.Ser324Cys) c.1483A>T (p.Ser495Cys) c.1201A>T (p.Ser401Cys) c.1342A>T (p.Ser448Cys) c.*969A>T (n.*969A>T) c.1285A>T (p.Ser429Cys) c.*901A>T (n.*901A>T) c.2106+177339A>T (n.2106+177339A>T) | |
3 | g.184322047G>A | CA355390654 | EIF2B5,EIF4G1 | c.1463G>A (p.Ser488Asn) c.1397G>A (p.Ser466Asn) c.833G>A (p.Ser278Asn) c.875G>A (p.Ser292Asn) c.971G>A (p.Ser324Asn) c.1484G>A (p.Ser495Asn) c.1202G>A (p.Ser401Asn) c.1343G>A (p.Ser448Asn) c.*970G>A (n.*970G>A) c.1286G>A (p.Ser429Asn) c.*902G>A (n.*902G>A) c.2106+177340G>A (n.2106+177340G>A) | |
3 | g.184322047G>C | CA355390655 | EIF2B5,EIF4G1 | c.1463G>C (p.Ser488Thr) c.1397G>C (p.Ser466Thr) c.833G>C (p.Ser278Thr) c.875G>C (p.Ser292Thr) c.971G>C (p.Ser324Thr) c.1484G>C (p.Ser495Thr) c.1202G>C (p.Ser401Thr) c.1343G>C (p.Ser448Thr) c.*970G>C (n.*970G>C) c.1286G>C (p.Ser429Thr) c.*902G>C (n.*902G>C) c.2106+177340G>C (n.2106+177340G>C) | dbSNP |
3 | g.184322047G= | CA1425953164 | EIF2B5,EIF4G1 | c.1463G= (p.Ser488=) c.1397G= (p.Ser466=) c.833G= (p.Ser278=) c.875G= (p.Ser292=) c.971G= (p.Ser324=) c.1484G= (p.Ser495=) c.1202G= (p.Ser401=) c.1343G= (p.Ser448=) c.*970G= (n.*970G=) c.1286G= (p.Ser429=) c.*902G= (n.*902G=) c.2106+177340G= (n.2106+177340G=) | |
3 | g.184322047G>T | CA355390656 | EIF2B5,EIF4G1 | c.1463G>T (p.Ser488Ile) c.1397G>T (p.Ser466Ile) c.833G>T (p.Ser278Ile) c.875G>T (p.Ser292Ile) c.971G>T (p.Ser324Ile) c.1484G>T (p.Ser495Ile) c.1202G>T (p.Ser401Ile) c.1343G>T (p.Ser448Ile) c.*970G>T (n.*970G>T) c.1286G>T (p.Ser429Ile) c.*902G>T (n.*902G>T) c.2106+177340G>T (n.2106+177340G>T) | |
3 | g.184322048T>A | CA355390657 | EIF2B5,EIF4G1 | c.1464T>A (p.Ser488Arg) c.1398T>A (p.Ser466Arg) c.834T>A (p.Ser278Arg) c.876T>A (p.Ser292Arg) c.972T>A (p.Ser324Arg) c.1485T>A (p.Ser495Arg) c.1203T>A (p.Ser401Arg) c.1344T>A (p.Ser448Arg) c.*971T>A (n.*971T>A) c.1287T>A (p.Ser429Arg) c.*903T>A (n.*903T>A) c.2106+177341T>A (n.2106+177341T>A) | gnomAD v4 |
3 | g.184322048T>C | CA2732203 | EIF2B5,EIF4G1 | c.1464T>C (p.Ser488=) c.1398T>C (p.Ser466=) c.834T>C (p.Ser278=) c.876T>C (p.Ser292=) c.972T>C (p.Ser324=) c.1485T>C (p.Ser495=) c.1203T>C (p.Ser401=) c.1344T>C (p.Ser448=) c.*971T>C (n.*971T>C) c.1287T>C (p.Ser429=) c.*903T>C (n.*903T>C) c.2106+177341T>C (n.2106+177341T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184322048T>G | CA355390659 | EIF2B5,EIF4G1 | c.1464T>G (p.Ser488Arg) c.1398T>G (p.Ser466Arg) c.834T>G (p.Ser278Arg) c.876T>G (p.Ser292Arg) c.972T>G (p.Ser324Arg) c.1485T>G (p.Ser495Arg) c.1203T>G (p.Ser401Arg) c.1344T>G (p.Ser448Arg) c.*971T>G (n.*971T>G) c.1287T>G (p.Ser429Arg) c.*903T>G (n.*903T>G) c.2106+177341T>G (n.2106+177341T>G) | |
3 | g.184322048T= | CA1425953165 | EIF2B5,EIF4G1 | c.1464T= (p.Ser488=) c.1398T= (p.Ser466=) c.834T= (p.Ser278=) c.876T= (p.Ser292=) c.972T= (p.Ser324=) c.1485T= (p.Ser495=) c.1203T= (p.Ser401=) c.1344T= (p.Ser448=) c.*971T= (n.*971T=) c.1287T= (p.Ser429=) c.*903T= (n.*903T=) c.2106+177341T= (n.2106+177341T=) | |
3 | g.184322049A>C | CA355390660 | EIF2B5,EIF4G1 | c.1465A>C (p.Thr489Pro) c.1399A>C (p.Thr467Pro) c.835A>C (p.Thr279Pro) c.877A>C (p.Thr293Pro) c.973A>C (p.Thr325Pro) c.1486A>C (p.Thr496Pro) c.1204A>C (p.Thr402Pro) c.1345A>C (p.Thr449Pro) c.*972A>C (n.*972A>C) c.1288A>C (p.Thr430Pro) c.*904A>C (n.*904A>C) c.2106+177342A>C (n.2106+177342A>C) | |
3 | g.184322049A>G | CA355390661 | EIF2B5,EIF4G1 | c.1465A>G (p.Thr489Ala) c.1399A>G (p.Thr467Ala) c.835A>G (p.Thr279Ala) c.877A>G (p.Thr293Ala) c.973A>G (p.Thr325Ala) c.1486A>G (p.Thr496Ala) c.1204A>G (p.Thr402Ala) c.1345A>G (p.Thr449Ala) c.*972A>G (n.*972A>G) c.1288A>G (p.Thr430Ala) c.*904A>G (n.*904A>G) c.2106+177342A>G (n.2106+177342A>G) | |
3 | g.184322049A>T | CA355390662 | EIF2B5,EIF4G1 | c.1465A>T (p.Thr489Ser) c.1399A>T (p.Thr467Ser) c.835A>T (p.Thr279Ser) c.877A>T (p.Thr293Ser) c.973A>T (p.Thr325Ser) c.1486A>T (p.Thr496Ser) c.1204A>T (p.Thr402Ser) c.1345A>T (p.Thr449Ser) c.*972A>T (n.*972A>T) c.1288A>T (p.Thr430Ser) c.*904A>T (n.*904A>T) c.2106+177342A>T (n.2106+177342A>T) | |
3 | g.184322050C>A | CA355390663 | EIF2B5,EIF4G1 | c.1466C>A (p.Thr489Asn) c.1400C>A (p.Thr467Asn) c.836C>A (p.Thr279Asn) c.878C>A (p.Thr293Asn) c.974C>A (p.Thr325Asn) c.1487C>A (p.Thr496Asn) c.1205C>A (p.Thr402Asn) c.1346C>A (p.Thr449Asn) c.*973C>A (n.*973C>A) c.1289C>A (p.Thr430Asn) c.*905C>A (n.*905C>A) c.2106+177343C>A (n.2106+177343C>A) | |
3 | g.184322050C= | CA1425953168 | EIF2B5,EIF4G1 | c.1466C= (p.Thr489=) c.1400C= (p.Thr467=) c.836C= (p.Thr279=) c.878C= (p.Thr293=) c.974C= (p.Thr325=) c.1487C= (p.Thr496=) c.1205C= (p.Thr402=) c.1346C= (p.Thr449=) c.*973C= (n.*973C=) c.1289C= (p.Thr430=) c.*905C= (n.*905C=) c.2106+177343C= (n.2106+177343C=) | |
3 | g.184322050C>G | CA355390664 | EIF2B5,EIF4G1 | c.1466C>G (p.Thr489Ser) c.1400C>G (p.Thr467Ser) c.836C>G (p.Thr279Ser) c.878C>G (p.Thr293Ser) c.974C>G (p.Thr325Ser) c.1487C>G (p.Thr496Ser) c.1205C>G (p.Thr402Ser) c.1346C>G (p.Thr449Ser) c.*973C>G (n.*973C>G) c.1289C>G (p.Thr430Ser) c.*905C>G (n.*905C>G) c.2106+177343C>G (n.2106+177343C>G) | |
3 | g.184322050C>T | CA355390665 | EIF2B5,EIF4G1 | c.1466C>T (p.Thr489Ile) c.1400C>T (p.Thr467Ile) c.836C>T (p.Thr279Ile) c.878C>T (p.Thr293Ile) c.974C>T (p.Thr325Ile) c.1487C>T (p.Thr496Ile) c.1205C>T (p.Thr402Ile) c.1346C>T (p.Thr449Ile) c.*973C>T (n.*973C>T) c.1289C>T (p.Thr430Ile) c.*905C>T (n.*905C>T) c.2106+177343C>T (n.2106+177343C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322051C>A | CA437329680 | EIF2B5,EIF4G1 | c.1467C>A (p.Thr489=) c.1401C>A (p.Thr467=) c.837C>A (p.Thr279=) c.879C>A (p.Thr293=) c.975C>A (p.Thr325=) c.1488C>A (p.Thr496=) c.1206C>A (p.Thr402=) c.1347C>A (p.Thr449=) c.*974C>A (n.*974C>A) c.1290C>A (p.Thr430=) c.*906C>A (n.*906C>A) c.2106+177344C>A (n.2106+177344C>A) | gnomAD v4 |
3 | g.184322051C>G | CA437329681 | EIF2B5,EIF4G1 | c.1467C>G (p.Thr489=) c.1401C>G (p.Thr467=) c.837C>G (p.Thr279=) c.879C>G (p.Thr293=) c.975C>G (p.Thr325=) c.1488C>G (p.Thr496=) c.1206C>G (p.Thr402=) c.1347C>G (p.Thr449=) c.*974C>G (n.*974C>G) c.1290C>G (p.Thr430=) c.*906C>G (n.*906C>G) c.2106+177344C>G (n.2106+177344C>G) | |
3 | g.184322051C>T | CA437329682 | EIF2B5,EIF4G1 | c.1467C>T (p.Thr489=) c.1401C>T (p.Thr467=) c.837C>T (p.Thr279=) c.879C>T (p.Thr293=) c.975C>T (p.Thr325=) c.1488C>T (p.Thr496=) c.1206C>T (p.Thr402=) c.1347C>T (p.Thr449=) c.*974C>T (n.*974C>T) c.1290C>T (p.Thr430=) c.*906C>T (n.*906C>T) c.2106+177344C>T (n.2106+177344C>T) | dbSNP |
3 | g.184322052C>A | CA355390669 | EIF2B5,EIF4G1 | c.1468C>A (p.Pro490Thr) c.1402C>A (p.Pro468Thr) c.838C>A (p.Pro280Thr) c.880C>A (p.Pro294Thr) c.976C>A (p.Pro326Thr) c.1489C>A (p.Pro497Thr) c.1207C>A (p.Pro403Thr) c.1348C>A (p.Pro450Thr) c.*975C>A (n.*975C>A) c.1291C>A (p.Pro431Thr) c.*907C>A (n.*907C>A) c.2106+177345C>A (n.2106+177345C>A) | gnomAD v4 |
3 | g.184322052C>G | CA355390671 | EIF2B5,EIF4G1 | c.1468C>G (p.Pro490Ala) c.1402C>G (p.Pro468Ala) c.838C>G (p.Pro280Ala) c.880C>G (p.Pro294Ala) c.976C>G (p.Pro326Ala) c.1489C>G (p.Pro497Ala) c.1207C>G (p.Pro403Ala) c.1348C>G (p.Pro450Ala) c.*975C>G (n.*975C>G) c.1291C>G (p.Pro431Ala) c.*907C>G (n.*907C>G) c.2106+177345C>G (n.2106+177345C>G) | gnomAD v4 |
3 | g.184322052C>T | CA355390667 | EIF2B5,EIF4G1 | c.1468C>T (p.Pro490Ser) c.1402C>T (p.Pro468Ser) c.838C>T (p.Pro280Ser) c.880C>T (p.Pro294Ser) c.976C>T (p.Pro326Ser) c.1489C>T (p.Pro497Ser) c.1207C>T (p.Pro403Ser) c.1348C>T (p.Pro450Ser) c.*975C>T (n.*975C>T) c.1291C>T (p.Pro431Ser) c.*907C>T (n.*907C>T) c.2106+177345C>T (n.2106+177345C>T) | |
3 | g.184322053C>A | CA355390674 | EIF2B5,EIF4G1 | c.1469C>A (p.Pro490His) c.1403C>A (p.Pro468His) c.839C>A (p.Pro280His) c.881C>A (p.Pro294His) c.977C>A (p.Pro326His) c.1490C>A (p.Pro497His) c.1208C>A (p.Pro403His) c.1349C>A (p.Pro450His) c.*976C>A (n.*976C>A) c.1292C>A (p.Pro431His) c.*908C>A (n.*908C>A) c.2106+177346C>A (n.2106+177346C>A) | |
3 | g.184322053C= | CA1425953172 | EIF2B5,EIF4G1 | c.1469C= (p.Pro490=) c.1403C= (p.Pro468=) c.839C= (p.Pro280=) c.881C= (p.Pro294=) c.977C= (p.Pro326=) c.1490C= (p.Pro497=) c.1208C= (p.Pro403=) c.1349C= (p.Pro450=) c.*976C= (n.*976C=) c.1292C= (p.Pro431=) c.*908C= (n.*908C=) c.2106+177346C= (n.2106+177346C=) | |
3 | g.184322053C>G | CA355390676 | EIF2B5,EIF4G1 | c.1469C>G (p.Pro490Arg) c.1403C>G (p.Pro468Arg) c.839C>G (p.Pro280Arg) c.881C>G (p.Pro294Arg) c.977C>G (p.Pro326Arg) c.1490C>G (p.Pro497Arg) c.1208C>G (p.Pro403Arg) c.1349C>G (p.Pro450Arg) c.*976C>G (n.*976C>G) c.1292C>G (p.Pro431Arg) c.*908C>G (n.*908C>G) c.2106+177346C>G (n.2106+177346C>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184322053C>T | CA355390677 | EIF2B5,EIF4G1 | c.1469C>T (p.Pro490Leu) c.1403C>T (p.Pro468Leu) c.839C>T (p.Pro280Leu) c.881C>T (p.Pro294Leu) c.977C>T (p.Pro326Leu) c.1490C>T (p.Pro497Leu) c.1208C>T (p.Pro403Leu) c.1349C>T (p.Pro450Leu) c.*976C>T (n.*976C>T) c.1292C>T (p.Pro431Leu) c.*908C>T (n.*908C>T) c.2106+177346C>T (n.2106+177346C>T) | |
3 | g.184322054T>A | CA437329683 | EIF2B5,EIF4G1 | c.1470T>A (p.Pro490=) c.1404T>A (p.Pro468=) c.840T>A (p.Pro280=) c.882T>A (p.Pro294=) c.978T>A (p.Pro326=) c.1491T>A (p.Pro497=) c.1209T>A (p.Pro403=) c.1350T>A (p.Pro450=) c.*977T>A (n.*977T>A) c.1293T>A (p.Pro431=) c.*909T>A (n.*909T>A) c.2106+177347T>A (n.2106+177347T>A) | |
3 | g.184322054T>C | CA437329685 | EIF2B5,EIF4G1 | c.1470T>C (p.Pro490=) c.1404T>C (p.Pro468=) c.840T>C (p.Pro280=) c.882T>C (p.Pro294=) c.978T>C (p.Pro326=) c.1491T>C (p.Pro497=) c.1209T>C (p.Pro403=) c.1350T>C (p.Pro450=) c.*977T>C (n.*977T>C) c.1293T>C (p.Pro431=) c.*909T>C (n.*909T>C) c.2106+177347T>C (n.2106+177347T>C) | gnomAD v4 |
3 | g.184322054T>G | CA437329684 | EIF2B5,EIF4G1 | c.1470T>G (p.Pro490=) c.1404T>G (p.Pro468=) c.840T>G (p.Pro280=) c.882T>G (p.Pro294=) c.978T>G (p.Pro326=) c.1491T>G (p.Pro497=) c.1209T>G (p.Pro403=) c.1350T>G (p.Pro450=) c.*977T>G (n.*977T>G) c.1293T>G (p.Pro431=) c.*909T>G (n.*909T>G) c.2106+177347T>G (n.2106+177347T>G) | |
3 | g.184322055A= | CA1425953174 | EIF2B5,EIF4G1 | c.1471A= (p.Ile491=) c.1405A= (p.Ile469=) c.841A= (p.Ile281=) c.883A= (p.Ile295=) c.979A= (p.Ile327=) c.1492A= (p.Ile498=) c.1210A= (p.Ile404=) c.1351A= (p.Ile451=) c.*978A= (n.*978A=) c.1294A= (p.Ile432=) c.*910A= (n.*910A=) c.2106+177348A= (n.2106+177348A=) | |
3 | g.184322055A>C | CA355390679 | EIF2B5,EIF4G1 | c.1471A>C (p.Ile491Leu) c.1405A>C (p.Ile469Leu) c.841A>C (p.Ile281Leu) c.883A>C (p.Ile295Leu) c.979A>C (p.Ile327Leu) c.1492A>C (p.Ile498Leu) c.1210A>C (p.Ile404Leu) c.1351A>C (p.Ile451Leu) c.*978A>C (n.*978A>C) c.1294A>C (p.Ile432Leu) c.*910A>C (n.*910A>C) c.2106+177348A>C (n.2106+177348A>C) | |
3 | g.184322055A>G | CA355390681 | EIF2B5,EIF4G1 | c.1471A>G (p.Ile491Val) c.1405A>G (p.Ile469Val) c.841A>G (p.Ile281Val) c.883A>G (p.Ile295Val) c.979A>G (p.Ile327Val) c.1492A>G (p.Ile498Val) c.1210A>G (p.Ile404Val) c.1351A>G (p.Ile451Val) c.*978A>G (n.*978A>G) c.1294A>G (p.Ile432Val) c.*910A>G (n.*910A>G) c.2106+177348A>G (n.2106+177348A>G) | dbSNP |
3 | g.184322055A>T | CA2732204 | EIF2B5,EIF4G1 | c.1471A>T (p.Ile491Phe) c.1405A>T (p.Ile469Phe) c.841A>T (p.Ile281Phe) c.883A>T (p.Ile295Phe) c.979A>T (p.Ile327Phe) c.1492A>T (p.Ile498Phe) c.1210A>T (p.Ile404Phe) c.1351A>T (p.Ile451Phe) c.*978A>T (n.*978A>T) c.1294A>T (p.Ile432Phe) c.*910A>T (n.*910A>T) c.2106+177348A>T (n.2106+177348A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322056T>A | CA355390684 | EIF2B5,EIF4G1 | c.1472T>A (p.Ile491Asn) c.1406T>A (p.Ile469Asn) c.842T>A (p.Ile281Asn) c.884T>A (p.Ile295Asn) c.980T>A (p.Ile327Asn) c.1493T>A (p.Ile498Asn) c.1211T>A (p.Ile404Asn) c.1352T>A (p.Ile451Asn) c.*979T>A (n.*979T>A) c.1295T>A (p.Ile432Asn) c.*911T>A (n.*911T>A) c.2106+177349T>A (n.2106+177349T>A) | |
3 | g.184322056T>C | CA355390686 | EIF2B5,EIF4G1 | c.1472T>C (p.Ile491Thr) c.1406T>C (p.Ile469Thr) c.842T>C (p.Ile281Thr) c.884T>C (p.Ile295Thr) c.980T>C (p.Ile327Thr) c.1493T>C (p.Ile498Thr) c.1211T>C (p.Ile404Thr) c.1352T>C (p.Ile451Thr) c.*979T>C (n.*979T>C) c.1295T>C (p.Ile432Thr) c.*911T>C (n.*911T>C) c.2106+177349T>C (n.2106+177349T>C) | |
3 | g.184322056T>G | CA355390688 | EIF2B5,EIF4G1 | c.1472T>G (p.Ile491Ser) c.1406T>G (p.Ile469Ser) c.842T>G (p.Ile281Ser) c.884T>G (p.Ile295Ser) c.980T>G (p.Ile327Ser) c.1493T>G (p.Ile498Ser) c.1211T>G (p.Ile404Ser) c.1352T>G (p.Ile451Ser) c.*979T>G (n.*979T>G) c.1295T>G (p.Ile432Ser) c.*911T>G (n.*911T>G) c.2106+177349T>G (n.2106+177349T>G) | |
3 | g.184322057T>A | CA437329686 | EIF2B5,EIF4G1 | c.1473T>A (p.Ile491=) c.1407T>A (p.Ile469=) c.843T>A (p.Ile281=) c.885T>A (p.Ile295=) c.981T>A (p.Ile327=) c.1494T>A (p.Ile498=) c.1212T>A (p.Ile404=) c.1353T>A (p.Ile451=) c.*980T>A (n.*980T>A) c.1296T>A (p.Ile432=) c.*912T>A (n.*912T>A) c.2106+177350T>A (n.2106+177350T>A) | |
3 | g.184322057T>C | CA437329687 | EIF2B5,EIF4G1 | c.1473T>C (p.Ile491=) c.1407T>C (p.Ile469=) c.843T>C (p.Ile281=) c.885T>C (p.Ile295=) c.981T>C (p.Ile327=) c.1494T>C (p.Ile498=) c.1212T>C (p.Ile404=) c.1353T>C (p.Ile451=) c.*980T>C (n.*980T>C) c.1296T>C (p.Ile432=) c.*912T>C (n.*912T>C) c.2106+177350T>C (n.2106+177350T>C) | |
3 | g.184322057T>G | CA355390690 | EIF2B5,EIF4G1 | c.1473T>G (p.Ile491Met) c.1407T>G (p.Ile469Met) c.843T>G (p.Ile281Met) c.885T>G (p.Ile295Met) c.981T>G (p.Ile327Met) c.1494T>G (p.Ile498Met) c.1212T>G (p.Ile404Met) c.1353T>G (p.Ile451Met) c.*980T>G (n.*980T>G) c.1296T>G (p.Ile432Met) c.*912T>G (n.*912T>G) c.2106+177350T>G (n.2106+177350T>G) | |
3 | g.184322058C>A | CA355390692 | EIF2B5,EIF4G1 | c.1474C>A (p.Pro492Thr) c.1408C>A (p.Pro470Thr) c.844C>A (p.Pro282Thr) c.886C>A (p.Pro296Thr) c.982C>A (p.Pro328Thr) c.1495C>A (p.Pro499Thr) c.1213C>A (p.Pro405Thr) c.1354C>A (p.Pro452Thr) c.*981C>A (n.*981C>A) c.1297C>A (p.Pro433Thr) c.*913C>A (n.*913C>A) c.2106+177351C>A (n.2106+177351C>A) | |
3 | g.184322058C= | CA1425953177 | EIF2B5,EIF4G1 | c.1474C= (p.Pro492=) c.1408C= (p.Pro470=) c.844C= (p.Pro282=) c.886C= (p.Pro296=) c.982C= (p.Pro328=) c.1495C= (p.Pro499=) c.1213C= (p.Pro405=) c.1354C= (p.Pro452=) c.*981C= (n.*981C=) c.1297C= (p.Pro433=) c.*913C= (n.*913C=) c.2106+177351C= (n.2106+177351C=) | |
3 | g.184322058C>G | CA355390693 | EIF2B5,EIF4G1 | c.1474C>G (p.Pro492Ala) c.1408C>G (p.Pro470Ala) c.844C>G (p.Pro282Ala) c.886C>G (p.Pro296Ala) c.982C>G (p.Pro328Ala) c.1495C>G (p.Pro499Ala) c.1213C>G (p.Pro405Ala) c.1354C>G (p.Pro452Ala) c.*981C>G (n.*981C>G) c.1297C>G (p.Pro433Ala) c.*913C>G (n.*913C>G) c.2106+177351C>G (n.2106+177351C>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184322058C>T | CA355390696 | EIF2B5,EIF4G1 | c.1474C>T (p.Pro492Ser) c.1408C>T (p.Pro470Ser) c.844C>T (p.Pro282Ser) c.886C>T (p.Pro296Ser) c.982C>T (p.Pro328Ser) c.1495C>T (p.Pro499Ser) c.1213C>T (p.Pro405Ser) c.1354C>T (p.Pro452Ser) c.*981C>T (n.*981C>T) c.1297C>T (p.Pro433Ser) c.*913C>T (n.*913C>T) c.2106+177351C>T (n.2106+177351C>T) | gnomAD v4 |
3 | g.184322059del | CA2759716531 | EIF2B5,EIF4G1 | c.1475del (p.Pro492GlnfsTer30) c.1409del (p.Pro470GlnfsTer30) c.845del (p.Pro282GlnfsTer30) c.887del (p.Pro296GlnfsTer30) c.983del (p.Pro328GlnfsTer30) c.1496del (p.Pro499GlnfsTer30) c.1214del (p.Pro405GlnfsTer30) c.1355del (p.Pro452GlnfsTer30) c.*982del (n.*982del) c.1298del (p.Pro433GlnfsTer30) c.*914del (n.*914del) c.2106+177352del (n.2106+177352del) | |
3 | g.184322059C>A | CA355390705 | EIF2B5,EIF4G1 | c.1475C>A (p.Pro492Gln) c.1409C>A (p.Pro470Gln) c.845C>A (p.Pro282Gln) c.887C>A (p.Pro296Gln) c.983C>A (p.Pro328Gln) c.1496C>A (p.Pro499Gln) c.1214C>A (p.Pro405Gln) c.1355C>A (p.Pro452Gln) c.*982C>A (n.*982C>A) c.1298C>A (p.Pro433Gln) c.*914C>A (n.*914C>A) c.2106+177352C>A (n.2106+177352C>A) | |
3 | g.184322059C>G | CA355390703 | EIF2B5,EIF4G1 | c.1475C>G (p.Pro492Arg) c.1409C>G (p.Pro470Arg) c.845C>G (p.Pro282Arg) c.887C>G (p.Pro296Arg) c.983C>G (p.Pro328Arg) c.1496C>G (p.Pro499Arg) c.1214C>G (p.Pro405Arg) c.1355C>G (p.Pro452Arg) c.*982C>G (n.*982C>G) c.1298C>G (p.Pro433Arg) c.*914C>G (n.*914C>G) c.2106+177352C>G (n.2106+177352C>G) | |
3 | g.184322059C>T | CA355390701 | EIF2B5,EIF4G1 | c.1475C>T (p.Pro492Leu) c.1409C>T (p.Pro470Leu) c.845C>T (p.Pro282Leu) c.887C>T (p.Pro296Leu) c.983C>T (p.Pro328Leu) c.1496C>T (p.Pro499Leu) c.1214C>T (p.Pro405Leu) c.1355C>T (p.Pro452Leu) c.*982C>T (n.*982C>T) c.1298C>T (p.Pro433Leu) c.*914C>T (n.*914C>T) c.2106+177352C>T (n.2106+177352C>T) | |
3 | g.184322060A>C | CA437329688 | EIF2B5,EIF4G1 | c.1476A>C (p.Pro492=) c.1410A>C (p.Pro470=) c.846A>C (p.Pro282=) c.888A>C (p.Pro296=) c.984A>C (p.Pro328=) c.1497A>C (p.Pro499=) c.1215A>C (p.Pro405=) c.1356A>C (p.Pro452=) c.*983A>C (n.*983A>C) c.1299A>C (p.Pro433=) c.*915A>C (n.*915A>C) c.2106+177353A>C (n.2106+177353A>C) | |
3 | g.184322060A>G | CA437329689 | EIF2B5,EIF4G1 | c.1476A>G (p.Pro492=) c.1410A>G (p.Pro470=) c.846A>G (p.Pro282=) c.888A>G (p.Pro296=) c.984A>G (p.Pro328=) c.1497A>G (p.Pro499=) c.1215A>G (p.Pro405=) c.1356A>G (p.Pro452=) c.*983A>G (n.*983A>G) c.1299A>G (p.Pro433=) c.*915A>G (n.*915A>G) c.2106+177353A>G (n.2106+177353A>G) | |
3 | g.184322060A>T | CA437329690 | EIF2B5,EIF4G1 | c.1476A>T (p.Pro492=) c.1410A>T (p.Pro470=) c.846A>T (p.Pro282=) c.888A>T (p.Pro296=) c.984A>T (p.Pro328=) c.1497A>T (p.Pro499=) c.1215A>T (p.Pro405=) c.1356A>T (p.Pro452=) c.*983A>T (n.*983A>T) c.1299A>T (p.Pro433=) c.*915A>T (n.*915A>T) c.2106+177353A>T (n.2106+177353A>T) | |
3 | g.184322061G>A | CA355390706 | EIF2B5,EIF4G1 | c.1477G>A (p.Ala493Thr) c.1411G>A (p.Ala471Thr) c.847G>A (p.Ala283Thr) c.889G>A (p.Ala297Thr) c.985G>A (p.Ala329Thr) c.1498G>A (p.Ala500Thr) c.1216G>A (p.Ala406Thr) c.1357G>A (p.Ala453Thr) c.*984G>A (n.*984G>A) c.1300G>A (p.Ala434Thr) c.*916G>A (n.*916G>A) c.2106+177354G>A (n.2106+177354G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184322061G>C | CA355390707 | EIF2B5,EIF4G1 | c.1477G>C (p.Ala493Pro) c.1411G>C (p.Ala471Pro) c.847G>C (p.Ala283Pro) c.889G>C (p.Ala297Pro) c.985G>C (p.Ala329Pro) c.1498G>C (p.Ala500Pro) c.1216G>C (p.Ala406Pro) c.1357G>C (p.Ala453Pro) c.*984G>C (n.*984G>C) c.1300G>C (p.Ala434Pro) c.*916G>C (n.*916G>C) c.2106+177354G>C (n.2106+177354G>C) | |
3 | g.184322061G= | CA1425953180 | EIF2B5,EIF4G1 | c.1477G= (p.Ala493=) c.1411G= (p.Ala471=) c.847G= (p.Ala283=) c.889G= (p.Ala297=) c.985G= (p.Ala329=) c.1498G= (p.Ala500=) c.1216G= (p.Ala406=) c.1357G= (p.Ala453=) c.*984G= (n.*984G=) c.1300G= (p.Ala434=) c.*916G= (n.*916G=) c.2106+177354G= (n.2106+177354G=) | |
3 | g.184322061G>T | CA355390709 | EIF2B5,EIF4G1 | c.1477G>T (p.Ala493Ser) c.1411G>T (p.Ala471Ser) c.847G>T (p.Ala283Ser) c.889G>T (p.Ala297Ser) c.985G>T (p.Ala329Ser) c.1498G>T (p.Ala500Ser) c.1216G>T (p.Ala406Ser) c.1357G>T (p.Ala453Ser) c.*984G>T (n.*984G>T) c.1300G>T (p.Ala434Ser) c.*916G>T (n.*916G>T) c.2106+177354G>T (n.2106+177354G>T) | dbSNP |
3 | g.184322062C>A | CA355390711 | EIF2B5,EIF4G1 | c.1478C>A (p.Ala493Asp) c.1412C>A (p.Ala471Asp) c.848C>A (p.Ala283Asp) c.890C>A (p.Ala297Asp) c.986C>A (p.Ala329Asp) c.1499C>A (p.Ala500Asp) c.1217C>A (p.Ala406Asp) c.1358C>A (p.Ala453Asp) c.*985C>A (n.*985C>A) c.1301C>A (p.Ala434Asp) c.*917C>A (n.*917C>A) c.2106+177355C>A (n.2106+177355C>A) | ClinVar dbSNP |
3 | g.184322062C= | CA1425953183 | EIF2B5,EIF4G1 | c.1478C= (p.Ala493=) c.1412C= (p.Ala471=) c.848C= (p.Ala283=) c.890C= (p.Ala297=) c.986C= (p.Ala329=) c.1499C= (p.Ala500=) c.1217C= (p.Ala406=) c.1358C= (p.Ala453=) c.*985C= (n.*985C=) c.1301C= (p.Ala434=) c.*917C= (n.*917C=) c.2106+177355C= (n.2106+177355C=) | |
3 | g.184322062C>G | CA88863467 | EIF2B5,EIF4G1 | c.1478C>G (p.Ala493Gly) c.1412C>G (p.Ala471Gly) c.848C>G (p.Ala283Gly) c.890C>G (p.Ala297Gly) c.986C>G (p.Ala329Gly) c.1499C>G (p.Ala500Gly) c.1217C>G (p.Ala406Gly) c.1358C>G (p.Ala453Gly) c.*985C>G (n.*985C>G) c.1301C>G (p.Ala434Gly) c.*917C>G (n.*917C>G) c.2106+177355C>G (n.2106+177355C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322062C>T | CA355390715 | EIF2B5,EIF4G1 | c.1478C>T (p.Ala493Val) c.1412C>T (p.Ala471Val) c.848C>T (p.Ala283Val) c.890C>T (p.Ala297Val) c.986C>T (p.Ala329Val) c.1499C>T (p.Ala500Val) c.1217C>T (p.Ala406Val) c.1358C>T (p.Ala453Val) c.*985C>T (n.*985C>T) c.1301C>T (p.Ala434Val) c.*917C>T (n.*917C>T) c.2106+177355C>T (n.2106+177355C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184322063C>A | CA437329691 | EIF2B5,EIF4G1 | c.1479C>A (p.Ala493=) c.1413C>A (p.Ala471=) c.849C>A (p.Ala283=) c.891C>A (p.Ala297=) c.987C>A (p.Ala329=) c.1500C>A (p.Ala500=) c.1218C>A (p.Ala406=) c.1359C>A (p.Ala453=) c.*986C>A (n.*986C>A) c.1302C>A (p.Ala434=) c.*918C>A (n.*918C>A) c.2106+177356C>A (n.2106+177356C>A) | |
3 | g.184322063C= | CA1425953186 | EIF2B5,EIF4G1 | c.1479C= (p.Ala493=) c.1413C= (p.Ala471=) c.849C= (p.Ala283=) c.891C= (p.Ala297=) c.987C= (p.Ala329=) c.1500C= (p.Ala500=) c.1218C= (p.Ala406=) c.1359C= (p.Ala453=) c.*986C= (n.*986C=) c.1302C= (p.Ala434=) c.*918C= (n.*918C=) c.2106+177356C= (n.2106+177356C=) | |
3 | g.184322063C>G | CA2732205 | EIF2B5,EIF4G1 | c.1479C>G (p.Ala493=) c.1413C>G (p.Ala471=) c.849C>G (p.Ala283=) c.891C>G (p.Ala297=) c.987C>G (p.Ala329=) c.1500C>G (p.Ala500=) c.1218C>G (p.Ala406=) c.1359C>G (p.Ala453=) c.*986C>G (n.*986C>G) c.1302C>G (p.Ala434=) c.*918C>G (n.*918C>G) c.2106+177356C>G (n.2106+177356C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184322063C>T | CA437329692 | EIF2B5,EIF4G1 | c.1479C>T (p.Ala493=) c.1413C>T (p.Ala471=) c.849C>T (p.Ala283=) c.891C>T (p.Ala297=) c.987C>T (p.Ala329=) c.1500C>T (p.Ala500=) c.1218C>T (p.Ala406=) c.1359C>T (p.Ala453=) c.*986C>T (n.*986C>T) c.1302C>T (p.Ala434=) c.*918C>T (n.*918C>T) c.2106+177356C>T (n.2106+177356C>T) | |
3 | g.184322064A>C | CA355390719 | EIF2B5,EIF4G1 | c.1480A>C (p.Asn494His) c.1414A>C (p.Asn472His) c.850A>C (p.Asn284His) c.892A>C (p.Asn298His) c.988A>C (p.Asn330His) c.1501A>C (p.Asn501His) c.1219A>C (p.Asn407His) c.1360A>C (p.Asn454His) c.*987A>C (n.*987A>C) c.1303A>C (p.Asn435His) c.*919A>C (n.*919A>C) c.2106+177357A>C (n.2106+177357A>C) | gnomAD v4 |
3 | g.184322064A>G | CA355390721 | EIF2B5,EIF4G1 | c.1480A>G (p.Asn494Asp) c.1414A>G (p.Asn472Asp) c.850A>G (p.Asn284Asp) c.892A>G (p.Asn298Asp) c.988A>G (p.Asn330Asp) c.1501A>G (p.Asn501Asp) c.1219A>G (p.Asn407Asp) c.1360A>G (p.Asn454Asp) c.*987A>G (n.*987A>G) c.1303A>G (p.Asn435Asp) c.*919A>G (n.*919A>G) c.2106+177357A>G (n.2106+177357A>G) | |
3 | g.184322064A>T | CA355390723 | EIF2B5,EIF4G1 | c.1480A>T (p.Asn494Tyr) c.1414A>T (p.Asn472Tyr) c.850A>T (p.Asn284Tyr) c.892A>T (p.Asn298Tyr) c.988A>T (p.Asn330Tyr) c.1501A>T (p.Asn501Tyr) c.1219A>T (p.Asn407Tyr) c.1360A>T (p.Asn454Tyr) c.*987A>T (n.*987A>T) c.1303A>T (p.Asn435Tyr) c.*919A>T (n.*919A>T) c.2106+177357A>T (n.2106+177357A>T) | |
3 | g.184322065A>C | CA355390726 | EIF2B5,EIF4G1 | c.1481A>C (p.Asn494Thr) c.1415A>C (p.Asn472Thr) c.851A>C (p.Asn284Thr) c.893A>C (p.Asn298Thr) c.989A>C (p.Asn330Thr) c.1502A>C (p.Asn501Thr) c.1220A>C (p.Asn407Thr) c.1361A>C (p.Asn454Thr) c.*988A>C (n.*988A>C) c.1304A>C (p.Asn435Thr) c.*920A>C (n.*920A>C) c.2106+177358A>C (n.2106+177358A>C) | |
3 | g.184322065A>G | CA355390728 | EIF2B5,EIF4G1 | c.1481A>G (p.Asn494Ser) c.1415A>G (p.Asn472Ser) c.851A>G (p.Asn284Ser) c.893A>G (p.Asn298Ser) c.989A>G (p.Asn330Ser) c.1502A>G (p.Asn501Ser) c.1220A>G (p.Asn407Ser) c.1361A>G (p.Asn454Ser) c.*988A>G (n.*988A>G) c.1304A>G (p.Asn435Ser) c.*920A>G (n.*920A>G) c.2106+177358A>G (n.2106+177358A>G) | |
3 | g.184322065A>T | CA355390729 | EIF2B5,EIF4G1 | c.1481A>T (p.Asn494Ile) c.1415A>T (p.Asn472Ile) c.851A>T (p.Asn284Ile) c.893A>T (p.Asn298Ile) c.989A>T (p.Asn330Ile) c.1502A>T (p.Asn501Ile) c.1220A>T (p.Asn407Ile) c.1361A>T (p.Asn454Ile) c.*988A>T (n.*988A>T) c.1304A>T (p.Asn435Ile) c.*920A>T (n.*920A>T) c.2106+177358A>T (n.2106+177358A>T) | |
3 | g.184322066C>A | CA355390734 | EIF2B5,EIF4G1 | c.1482C>A (p.Asn494Lys) c.1416C>A (p.Asn472Lys) c.852C>A (p.Asn284Lys) c.894C>A (p.Asn298Lys) c.990C>A (p.Asn330Lys) c.1503C>A (p.Asn501Lys) c.1221C>A (p.Asn407Lys) c.1362C>A (p.Asn454Lys) c.*989C>A (n.*989C>A) c.1305C>A (p.Asn435Lys) c.*921C>A (n.*921C>A) c.2106+177359C>A (n.2106+177359C>A) | |
3 | g.184322066C= | CA1425953188 | EIF2B5,EIF4G1 | c.1482C= (p.Asn494=) c.1416C= (p.Asn472=) c.852C= (p.Asn284=) c.894C= (p.Asn298=) c.990C= (p.Asn330=) c.1503C= (p.Asn501=) c.1221C= (p.Asn407=) c.1362C= (p.Asn454=) c.*989C= (n.*989C=) c.1305C= (p.Asn435=) c.*921C= (n.*921C=) c.2106+177359C= (n.2106+177359C=) | |
3 | g.184322066C>G | CA355390732 | EIF2B5,EIF4G1 | c.1482C>G (p.Asn494Lys) c.1416C>G (p.Asn472Lys) c.852C>G (p.Asn284Lys) c.894C>G (p.Asn298Lys) c.990C>G (p.Asn330Lys) c.1503C>G (p.Asn501Lys) c.1221C>G (p.Asn407Lys) c.1362C>G (p.Asn454Lys) c.*989C>G (n.*989C>G) c.1305C>G (p.Asn435Lys) c.*921C>G (n.*921C>G) c.2106+177359C>G (n.2106+177359C>G) | |
3 | g.184322066C>T | CA437329693 | EIF2B5,EIF4G1 | c.1482C>T (p.Asn494=) c.1416C>T (p.Asn472=) c.852C>T (p.Asn284=) c.894C>T (p.Asn298=) c.990C>T (p.Asn330=) c.1503C>T (p.Asn501=) c.1221C>T (p.Asn407=) c.1362C>T (p.Asn454=) c.*989C>T (n.*989C>T) c.1305C>T (p.Asn435=) c.*921C>T (n.*921C>T) c.2106+177359C>T (n.2106+177359C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184322067T>A | CA355390736 | EIF2B5,EIF4G1 | c.1483T>A (p.Leu495Met) c.1417T>A (p.Leu473Met) c.853T>A (p.Leu285Met) c.895T>A (p.Leu299Met) c.991T>A (p.Leu331Met) c.1504T>A (p.Leu502Met) c.1222T>A (p.Leu408Met) c.1363T>A (p.Leu455Met) c.*990T>A (n.*990T>A) c.1306T>A (p.Leu436Met) c.*922T>A (n.*922T>A) c.2106+177360T>A (n.2106+177360T>A) | gnomAD v4 |
3 | g.184322067T>C | CA437329694 | EIF2B5,EIF4G1 | c.1483T>C (p.Leu495=) c.1417T>C (p.Leu473=) c.853T>C (p.Leu285=) c.895T>C (p.Leu299=) c.991T>C (p.Leu331=) c.1504T>C (p.Leu502=) c.1222T>C (p.Leu408=) c.1363T>C (p.Leu455=) c.*990T>C (n.*990T>C) c.1306T>C (p.Leu436=) c.*922T>C (n.*922T>C) c.2106+177360T>C (n.2106+177360T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184322067T>G | CA355390738 | EIF2B5,EIF4G1 | c.1483T>G (p.Leu495Val) c.1417T>G (p.Leu473Val) c.853T>G (p.Leu285Val) c.895T>G (p.Leu299Val) c.991T>G (p.Leu331Val) c.1504T>G (p.Leu502Val) c.1222T>G (p.Leu408Val) c.1363T>G (p.Leu455Val) c.*990T>G (n.*990T>G) c.1306T>G (p.Leu436Val) c.*922T>G (n.*922T>G) c.2106+177360T>G (n.2106+177360T>G) | |
3 | g.184322067T= | CA1425953189 | EIF2B5,EIF4G1 | c.1483T= (p.Leu495=) c.1417T= (p.Leu473=) c.853T= (p.Leu285=) c.895T= (p.Leu299=) c.991T= (p.Leu331=) c.1504T= (p.Leu502=) c.1222T= (p.Leu408=) c.1363T= (p.Leu455=) c.*990T= (n.*990T=) c.1306T= (p.Leu436=) c.*922T= (n.*922T=) c.2106+177360T= (n.2106+177360T=) | |
3 | g.184322068T>A | CA355390739 | EIF2B5,EIF4G1 | c.1484T>A (p.Leu495Ter) c.1418T>A (p.Leu473Ter) c.854T>A (p.Leu285Ter) c.896T>A (p.Leu299Ter) c.992T>A (p.Leu331Ter) c.1505T>A (p.Leu502Ter) c.1223T>A (p.Leu408Ter) c.1364T>A (p.Leu455Ter) c.*991T>A (n.*991T>A) c.1307T>A (p.Leu436Ter) c.*923T>A (n.*923T>A) c.2106+177361T>A (n.2106+177361T>A) | |
3 | g.184322068T>C | CA355390741 | EIF2B5,EIF4G1 | c.1484T>C (p.Leu495Ser) c.1418T>C (p.Leu473Ser) c.854T>C (p.Leu285Ser) c.896T>C (p.Leu299Ser) c.992T>C (p.Leu331Ser) c.1505T>C (p.Leu502Ser) c.1223T>C (p.Leu408Ser) c.1364T>C (p.Leu455Ser) c.*991T>C (n.*991T>C) c.1307T>C (p.Leu436Ser) c.*923T>C (n.*923T>C) c.2106+177361T>C (n.2106+177361T>C) | |
3 | g.184322068T>G | CA355390740 | EIF2B5,EIF4G1 | c.1484T>G (p.Leu495Trp) c.1418T>G (p.Leu473Trp) c.854T>G (p.Leu285Trp) c.896T>G (p.Leu299Trp) c.992T>G (p.Leu331Trp) c.1505T>G (p.Leu502Trp) c.1223T>G (p.Leu408Trp) c.1364T>G (p.Leu455Trp) c.*991T>G (n.*991T>G) c.1307T>G (p.Leu436Trp) c.*923T>G (n.*923T>G) c.2106+177361T>G (n.2106+177361T>G) | |
3 | g.184322069G>A | CA437329695 | EIF2B5,EIF4G1 | c.1485G>A (p.Leu495=) c.1419G>A (p.Leu473=) c.855G>A (p.Leu285=) c.897G>A (p.Leu299=) c.993G>A (p.Leu331=) c.1506G>A (p.Leu502=) c.1224G>A (p.Leu408=) c.1365G>A (p.Leu455=) c.*992G>A (n.*992G>A) c.1308G>A (p.Leu436=) c.*924G>A (n.*924G>A) c.2106+177362G>A (n.2106+177362G>A) | |
3 | g.184322069G>C | CA355390744 | EIF2B5,EIF4G1 | c.1485G>C (p.Leu495Phe) c.1419G>C (p.Leu473Phe) c.855G>C (p.Leu285Phe) c.897G>C (p.Leu299Phe) c.993G>C (p.Leu331Phe) c.1506G>C (p.Leu502Phe) c.1224G>C (p.Leu408Phe) c.1365G>C (p.Leu455Phe) c.*992G>C (n.*992G>C) c.1308G>C (p.Leu436Phe) c.*924G>C (n.*924G>C) c.2106+177362G>C (n.2106+177362G>C) | |
3 | g.184322069G>T | CA355390746 | EIF2B5,EIF4G1 | c.1485G>T (p.Leu495Phe) c.1419G>T (p.Leu473Phe) c.855G>T (p.Leu285Phe) c.897G>T (p.Leu299Phe) c.993G>T (p.Leu331Phe) c.1506G>T (p.Leu502Phe) c.1224G>T (p.Leu408Phe) c.1365G>T (p.Leu455Phe) c.*992G>T (n.*992G>T) c.1308G>T (p.Leu436Phe) c.*924G>T (n.*924G>T) c.2106+177362G>T (n.2106+177362G>T) | |
3 | g.184322070T>A | CA355390749 | EIF2B5,EIF4G1 | c.1486T>A (p.Ser496Thr) c.1420T>A (p.Ser474Thr) c.856T>A (p.Ser286Thr) c.898T>A (p.Ser300Thr) c.994T>A (p.Ser332Thr) c.1507T>A (p.Ser503Thr) c.1225T>A (p.Ser409Thr) c.1366T>A (p.Ser456Thr) c.*993T>A (n.*993T>A) c.1309T>A (p.Ser437Thr) c.*925T>A (n.*925T>A) c.2106+177363T>A (n.2106+177363T>A) | gnomAD v4 |
3 | g.184322070T>C | CA355390753 | EIF2B5,EIF4G1 | c.1486T>C (p.Ser496Pro) c.1420T>C (p.Ser474Pro) c.856T>C (p.Ser286Pro) c.898T>C (p.Ser300Pro) c.994T>C (p.Ser332Pro) c.1507T>C (p.Ser503Pro) c.1225T>C (p.Ser409Pro) c.1366T>C (p.Ser456Pro) c.*993T>C (n.*993T>C) c.1309T>C (p.Ser437Pro) c.*925T>C (n.*925T>C) c.2106+177363T>C (n.2106+177363T>C) | |
3 | g.184322070T>G | CA355390755 | EIF2B5,EIF4G1 | c.1486T>G (p.Ser496Ala) c.1420T>G (p.Ser474Ala) c.856T>G (p.Ser286Ala) c.898T>G (p.Ser300Ala) c.994T>G (p.Ser332Ala) c.1507T>G (p.Ser503Ala) c.1225T>G (p.Ser409Ala) c.1366T>G (p.Ser456Ala) c.*993T>G (n.*993T>G) c.1309T>G (p.Ser437Ala) c.*925T>G (n.*925T>G) c.2106+177363T>G (n.2106+177363T>G) | |
3 | g.184322071C>A | CA355390761 | EIF2B5,EIF4G1 | c.1487C>A (p.Ser496Tyr) c.1421C>A (p.Ser474Tyr) c.857C>A (p.Ser286Tyr) c.899C>A (p.Ser300Tyr) c.995C>A (p.Ser332Tyr) c.1508C>A (p.Ser503Tyr) c.1226C>A (p.Ser409Tyr) c.1367C>A (p.Ser456Tyr) c.*994C>A (n.*994C>A) c.1310C>A (p.Ser437Tyr) c.*926C>A (n.*926C>A) c.2106+177364C>A (n.2106+177364C>A) | |
3 | g.184322071C= | CA1425953191 | EIF2B5,EIF4G1 | c.1487C= (p.Ser496=) c.1421C= (p.Ser474=) c.857C= (p.Ser286=) c.899C= (p.Ser300=) c.995C= (p.Ser332=) c.1508C= (p.Ser503=) c.1226C= (p.Ser409=) c.1367C= (p.Ser456=) c.*994C= (n.*994C=) c.1310C= (p.Ser437=) c.*926C= (n.*926C=) c.2106+177364C= (n.2106+177364C=) | |
3 | g.184322071C>G | CA355390763 | EIF2B5,EIF4G1 | c.1487C>G (p.Ser496Cys) c.1421C>G (p.Ser474Cys) c.857C>G (p.Ser286Cys) c.899C>G (p.Ser300Cys) c.995C>G (p.Ser332Cys) c.1508C>G (p.Ser503Cys) c.1226C>G (p.Ser409Cys) c.1367C>G (p.Ser456Cys) c.*994C>G (n.*994C>G) c.1310C>G (p.Ser437Cys) c.*926C>G (n.*926C>G) c.2106+177364C>G (n.2106+177364C>G) | gnomAD v4 |
3 | g.184322071C>T | CA2732206 | EIF2B5,EIF4G1 | c.1487C>T (p.Ser496Phe) c.1421C>T (p.Ser474Phe) c.857C>T (p.Ser286Phe) c.899C>T (p.Ser300Phe) c.995C>T (p.Ser332Phe) c.1508C>T (p.Ser503Phe) c.1226C>T (p.Ser409Phe) c.1367C>T (p.Ser456Phe) c.*994C>T (n.*994C>T) c.1310C>T (p.Ser437Phe) c.*926C>T (n.*926C>T) c.2106+177364C>T (n.2106+177364C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184322072T>A | CA437329698 | EIF2B5,EIF4G1 | c.1488T>A (p.Ser496=) c.1422T>A (p.Ser474=) c.858T>A (p.Ser286=) c.900T>A (p.Ser300=) c.996T>A (p.Ser332=) c.1509T>A (p.Ser503=) c.1227T>A (p.Ser409=) c.1368T>A (p.Ser456=) c.*995T>A (n.*995T>A) c.1311T>A (p.Ser437=) c.*927T>A (n.*927T>A) c.2106+177365T>A (n.2106+177365T>A) | |
3 | g.184322072T>C | CA437329696 | EIF2B5,EIF4G1 | c.1488T>C (p.Ser496=) c.1422T>C (p.Ser474=) c.858T>C (p.Ser286=) c.900T>C (p.Ser300=) c.996T>C (p.Ser332=) c.1509T>C (p.Ser503=) c.1227T>C (p.Ser409=) c.1368T>C (p.Ser456=) c.*995T>C (n.*995T>C) c.1311T>C (p.Ser437=) c.*927T>C (n.*927T>C) c.2106+177365T>C (n.2106+177365T>C) | |
3 | g.184322072T>G | CA437329697 | EIF2B5,EIF4G1 | c.1488T>G (p.Ser496=) c.1422T>G (p.Ser474=) c.858T>G (p.Ser286=) c.900T>G (p.Ser300=) c.996T>G (p.Ser332=) c.1509T>G (p.Ser503=) c.1227T>G (p.Ser409=) c.1368T>G (p.Ser456=) c.*995T>G (n.*995T>G) c.1311T>G (p.Ser437=) c.*927T>G (n.*927T>G) c.2106+177365T>G (n.2106+177365T>G) | |
3 | g.184322073C>A | CA355390770 | EIF2B5,EIF4G1 | c.1489C>A (p.Gln497Lys) c.1423C>A (p.Gln475Lys) c.859C>A (p.Gln287Lys) c.901C>A (p.Gln301Lys) c.997C>A (p.Gln333Lys) c.1510C>A (p.Gln504Lys) c.1228C>A (p.Gln410Lys) c.1369C>A (p.Gln457Lys) c.*996C>A (n.*996C>A) c.1312C>A (p.Gln438Lys) c.*928C>A (n.*928C>A) c.2106+177366C>A (n.2106+177366C>A) | |
3 | g.184322073C>G | CA355390772 | EIF2B5,EIF4G1 | c.1489C>G (p.Gln497Glu) c.1423C>G (p.Gln475Glu) c.859C>G (p.Gln287Glu) c.901C>G (p.Gln301Glu) c.997C>G (p.Gln333Glu) c.1510C>G (p.Gln504Glu) c.1228C>G (p.Gln410Glu) c.1369C>G (p.Gln457Glu) c.*996C>G (n.*996C>G) c.1312C>G (p.Gln438Glu) c.*928C>G (n.*928C>G) c.2106+177366C>G (n.2106+177366C>G) | |
3 | g.184322073C>T | CA355390773 | EIF2B5,EIF4G1 | c.1489C>T (p.Gln497Ter) c.1423C>T (p.Gln475Ter) c.859C>T (p.Gln287Ter) c.901C>T (p.Gln301Ter) c.997C>T (p.Gln333Ter) c.1510C>T (p.Gln504Ter) c.1228C>T (p.Gln410Ter) c.1369C>T (p.Gln457Ter) c.*996C>T (n.*996C>T) c.1312C>T (p.Gln438Ter) c.*928C>T (n.*928C>T) c.2106+177366C>T (n.2106+177366C>T) | |
3 | g.184322074A>C | CA355390783 | EIF2B5,EIF4G1 | c.1490A>C (p.Gln497Pro) c.1424A>C (p.Gln475Pro) c.860A>C (p.Gln287Pro) c.902A>C (p.Gln301Pro) c.998A>C (p.Gln333Pro) c.1511A>C (p.Gln504Pro) c.1229A>C (p.Gln410Pro) c.1370A>C (p.Gln457Pro) c.*997A>C (n.*997A>C) c.1313A>C (p.Gln438Pro) c.*929A>C (n.*929A>C) c.2106+177367A>C (n.2106+177367A>C) | gnomAD v4 |
3 | g.184322074A>G | CA355390781 | EIF2B5,EIF4G1 | c.1490A>G (p.Gln497Arg) c.1424A>G (p.Gln475Arg) c.860A>G (p.Gln287Arg) c.902A>G (p.Gln301Arg) c.998A>G (p.Gln333Arg) c.1511A>G (p.Gln504Arg) c.1229A>G (p.Gln410Arg) c.1370A>G (p.Gln457Arg) c.*997A>G (n.*997A>G) c.1313A>G (p.Gln438Arg) c.*929A>G (n.*929A>G) c.2106+177367A>G (n.2106+177367A>G) | gnomAD v4 |
3 | g.184322074A>T | CA355390776 | EIF2B5,EIF4G1 | c.1490A>T (p.Gln497Leu) c.1424A>T (p.Gln475Leu) c.860A>T (p.Gln287Leu) c.902A>T (p.Gln301Leu) c.998A>T (p.Gln333Leu) c.1511A>T (p.Gln504Leu) c.1229A>T (p.Gln410Leu) c.1370A>T (p.Gln457Leu) c.*997A>T (n.*997A>T) c.1313A>T (p.Gln438Leu) c.*929A>T (n.*929A>T) c.2106+177367A>T (n.2106+177367A>T) | |
3 | g.184322075G>A | CA437329699 | EIF2B5,EIF4G1 | c.1491G>A (p.Gln497=) c.1425G>A (p.Gln475=) c.861G>A (p.Gln287=) c.903G>A (p.Gln301=) c.999G>A (p.Gln333=) c.1512G>A (p.Gln504=) c.1230G>A (p.Gln410=) c.1371G>A (p.Gln457=) c.*998G>A (n.*998G>A) c.1314G>A (p.Gln438=) c.*930G>A (n.*930G>A) c.2106+177368G>A (n.2106+177368G>A) | |
3 | g.184322075G>C | CA355390786 | EIF2B5,EIF4G1 | c.1491G>C (p.Gln497His) c.1425G>C (p.Gln475His) c.861G>C (p.Gln287His) c.903G>C (p.Gln301His) c.999G>C (p.Gln333His) c.1512G>C (p.Gln504His) c.1230G>C (p.Gln410His) c.1371G>C (p.Gln457His) c.*998G>C (n.*998G>C) c.1314G>C (p.Gln438His) c.*930G>C (n.*930G>C) c.2106+177368G>C (n.2106+177368G>C) | dbSNP |
3 | g.184322075G= | CA1425953193 | EIF2B5,EIF4G1 | c.1491G= (p.Gln497=) c.1425G= (p.Gln475=) c.861G= (p.Gln287=) c.903G= (p.Gln301=) c.999G= (p.Gln333=) c.1512G= (p.Gln504=) c.1230G= (p.Gln410=) c.1371G= (p.Gln457=) c.*998G= (n.*998G=) c.1314G= (p.Gln438=) c.*930G= (n.*930G=) c.2106+177368G= (n.2106+177368G=) | |
3 | g.184322075G>T | CA355390789 | EIF2B5,EIF4G1 | c.1491G>T (p.Gln497His) c.1425G>T (p.Gln475His) c.861G>T (p.Gln287His) c.903G>T (p.Gln301His) c.999G>T (p.Gln333His) c.1512G>T (p.Gln504His) c.1230G>T (p.Gln410His) c.1371G>T (p.Gln457His) c.*998G>T (n.*998G>T) c.1314G>T (p.Gln438His) c.*930G>T (n.*930G>T) c.2106+177368G>T (n.2106+177368G>T) | COSMIC |
3 | g.184322076A>C | CA355390793 | EIF2B5,EIF4G1 | c.1492A>C (p.Asn498His) c.1426A>C (p.Asn476His) c.862A>C (p.Asn288His) c.904A>C (p.Asn302His) c.1000A>C (p.Asn334His) c.1513A>C (p.Asn505His) c.1231A>C (p.Asn411His) c.1372A>C (p.Asn458His) c.*999A>C (n.*999A>C) c.1315A>C (p.Asn439His) c.*931A>C (n.*931A>C) c.2106+177369A>C (n.2106+177369A>C) | |
3 | g.184322076A>G | CA355390794 | EIF2B5,EIF4G1 | c.1492A>G (p.Asn498Asp) c.1426A>G (p.Asn476Asp) c.862A>G (p.Asn288Asp) c.904A>G (p.Asn302Asp) c.1000A>G (p.Asn334Asp) c.1513A>G (p.Asn505Asp) c.1231A>G (p.Asn411Asp) c.1372A>G (p.Asn458Asp) c.*999A>G (n.*999A>G) c.1315A>G (p.Asn439Asp) c.*931A>G (n.*931A>G) c.2106+177369A>G (n.2106+177369A>G) | |
3 | g.184322076A>T | CA355390797 | EIF2B5,EIF4G1 | c.1492A>T (p.Asn498Tyr) c.1426A>T (p.Asn476Tyr) c.862A>T (p.Asn288Tyr) c.904A>T (p.Asn302Tyr) c.1000A>T (p.Asn334Tyr) c.1513A>T (p.Asn505Tyr) c.1231A>T (p.Asn411Tyr) c.1372A>T (p.Asn458Tyr) c.*999A>T (n.*999A>T) c.1315A>T (p.Asn439Tyr) c.*931A>T (n.*931A>T) c.2106+177369A>T (n.2106+177369A>T) | |
3 | g.184322077A>C | CA355390801 | EIF2B5,EIF4G1 | c.1493A>C (p.Asn498Thr) c.1427A>C (p.Asn476Thr) c.863A>C (p.Asn288Thr) c.905A>C (p.Asn302Thr) c.1001A>C (p.Asn334Thr) c.1514A>C (p.Asn505Thr) c.1232A>C (p.Asn411Thr) c.1373A>C (p.Asn458Thr) c.*1000A>C (n.*1000A>C) c.1316A>C (p.Asn439Thr) c.*932A>C (n.*932A>C) c.2106+177370A>C (n.2106+177370A>C) | |
3 | g.184322077A>G | CA355390803 | EIF2B5,EIF4G1 | c.1493A>G (p.Asn498Ser) c.1427A>G (p.Asn476Ser) c.863A>G (p.Asn288Ser) c.905A>G (p.Asn302Ser) c.1001A>G (p.Asn334Ser) c.1514A>G (p.Asn505Ser) c.1232A>G (p.Asn411Ser) c.1373A>G (p.Asn458Ser) c.*1000A>G (n.*1000A>G) c.1316A>G (p.Asn439Ser) c.*932A>G (n.*932A>G) c.2106+177370A>G (n.2106+177370A>G) | gnomAD v4 |
3 | g.184322077A>T | CA355390806 | EIF2B5,EIF4G1 | c.1493A>T (p.Asn498Ile) c.1427A>T (p.Asn476Ile) c.863A>T (p.Asn288Ile) c.905A>T (p.Asn302Ile) c.1001A>T (p.Asn334Ile) c.1514A>T (p.Asn505Ile) c.1232A>T (p.Asn411Ile) c.1373A>T (p.Asn458Ile) c.*1000A>T (n.*1000A>T) c.1316A>T (p.Asn439Ile) c.*932A>T (n.*932A>T) c.2106+177370A>T (n.2106+177370A>T) | |
3 | g.184322078T>A | CA355390810 | EIF2B5,EIF4G1 | c.1494T>A (p.Asn498Lys) c.1428T>A (p.Asn476Lys) c.864T>A (p.Asn288Lys) c.906T>A (p.Asn302Lys) c.1002T>A (p.Asn334Lys) c.1515T>A (p.Asn505Lys) c.1233T>A (p.Asn411Lys) c.1374T>A (p.Asn458Lys) c.*1001T>A (n.*1001T>A) c.1317T>A (p.Asn439Lys) c.*933T>A (n.*933T>A) c.2106+177371T>A (n.2106+177371T>A) | |
3 | g.184322078T>C | CA437329700 | EIF2B5,EIF4G1 | c.1494T>C (p.Asn498=) c.1428T>C (p.Asn476=) c.864T>C (p.Asn288=) c.906T>C (p.Asn302=) c.1002T>C (p.Asn334=) c.1515T>C (p.Asn505=) c.1233T>C (p.Asn411=) c.1374T>C (p.Asn458=) c.*1001T>C (n.*1001T>C) c.1317T>C (p.Asn439=) c.*933T>C (n.*933T>C) c.2106+177371T>C (n.2106+177371T>C) | |
3 | g.184322078T>G | CA355390812 | EIF2B5,EIF4G1 | c.1494T>G (p.Asn498Lys) c.1428T>G (p.Asn476Lys) c.864T>G (p.Asn288Lys) c.906T>G (p.Asn302Lys) c.1002T>G (p.Asn334Lys) c.1515T>G (p.Asn505Lys) c.1233T>G (p.Asn411Lys) c.1374T>G (p.Asn458Lys) c.*1001T>G (n.*1001T>G) c.1317T>G (p.Asn439Lys) c.*933T>G (n.*933T>G) c.2106+177371T>G (n.2106+177371T>G) | |
3 | g.184322079T>A | CA355390815 | EIF2B5,EIF4G1 | c.1495T>A (p.Leu499Met) c.1429T>A (p.Leu477Met) c.865T>A (p.Leu289Met) c.907T>A (p.Leu303Met) c.1003T>A (p.Leu335Met) c.1516T>A (p.Leu506Met) c.1234T>A (p.Leu412Met) c.1375T>A (p.Leu459Met) c.*1002T>A (n.*1002T>A) c.1318T>A (p.Leu440Met) c.*934T>A (n.*934T>A) c.2106+177372T>A (n.2106+177372T>A) | |
3 | g.184322079T>C | CA437329701 | EIF2B5,EIF4G1 | c.1495T>C (p.Leu499=) c.1429T>C (p.Leu477=) c.865T>C (p.Leu289=) c.907T>C (p.Leu303=) c.1003T>C (p.Leu335=) c.1516T>C (p.Leu506=) c.1234T>C (p.Leu412=) c.1375T>C (p.Leu459=) c.*1002T>C (n.*1002T>C) c.1318T>C (p.Leu440=) c.*934T>C (n.*934T>C) c.2106+177372T>C (n.2106+177372T>C) | |
3 | g.184322079T>G | CA355390818 | EIF2B5,EIF4G1 | c.1495T>G (p.Leu499Val) c.1429T>G (p.Leu477Val) c.865T>G (p.Leu289Val) c.907T>G (p.Leu303Val) c.1003T>G (p.Leu335Val) c.1516T>G (p.Leu506Val) c.1234T>G (p.Leu412Val) c.1375T>G (p.Leu459Val) c.*1002T>G (n.*1002T>G) c.1318T>G (p.Leu440Val) c.*934T>G (n.*934T>G) c.2106+177372T>G (n.2106+177372T>G) | gnomAD v4 |
3 | g.184322080T>A | CA355390827 | EIF2B5,EIF4G1 | c.1496T>A (p.Leu499Ter) c.1430T>A (p.Leu477Ter) c.866T>A (p.Leu289Ter) c.908T>A (p.Leu303Ter) c.1004T>A (p.Leu335Ter) c.1517T>A (p.Leu506Ter) c.1235T>A (p.Leu412Ter) c.1376T>A (p.Leu459Ter) c.*1003T>A (n.*1003T>A) c.1319T>A (p.Leu440Ter) c.*935T>A (n.*935T>A) c.2106+177373T>A (n.2106+177373T>A) | |
3 | g.184322080T>C | CA2732207 | EIF2B5,EIF4G1 | c.1496T>C (p.Leu499Ser) c.1430T>C (p.Leu477Ser) c.866T>C (p.Leu289Ser) c.908T>C (p.Leu303Ser) c.1004T>C (p.Leu335Ser) c.1517T>C (p.Leu506Ser) c.1235T>C (p.Leu412Ser) c.1376T>C (p.Leu459Ser) c.*1003T>C (n.*1003T>C) c.1319T>C (p.Leu440Ser) c.*935T>C (n.*935T>C) c.2106+177373T>C (n.2106+177373T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184322080T>G | CA355390823 | EIF2B5,EIF4G1 | c.1496T>G (p.Leu499Trp) c.1430T>G (p.Leu477Trp) c.866T>G (p.Leu289Trp) c.908T>G (p.Leu303Trp) c.1004T>G (p.Leu335Trp) c.1517T>G (p.Leu506Trp) c.1235T>G (p.Leu412Trp) c.1376T>G (p.Leu459Trp) c.*1003T>G (n.*1003T>G) c.1319T>G (p.Leu440Trp) c.*935T>G (n.*935T>G) c.2106+177373T>G (n.2106+177373T>G) | |
3 | g.184322080T= | CA1425953196 | EIF2B5,EIF4G1 | c.1496T= (p.Leu499=) c.1430T= (p.Leu477=) c.866T= (p.Leu289=) c.908T= (p.Leu303=) c.1004T= (p.Leu335=) c.1517T= (p.Leu506=) c.1235T= (p.Leu412=) c.1376T= (p.Leu459=) c.*1003T= (n.*1003T=) c.1319T= (p.Leu440=) c.*935T= (n.*935T=) c.2106+177373T= (n.2106+177373T=) | |
3 | g.184322081G>A | CA437329702 | EIF2B5,EIF4G1 | c.1497G>A (p.Leu499=) c.1431G>A (p.Leu477=) c.867G>A (p.Leu289=) c.909G>A (p.Leu303=) c.1005G>A (p.Leu335=) c.1518G>A (p.Leu506=) c.1236G>A (p.Leu412=) c.1377G>A (p.Leu459=) c.*1004G>A (n.*1004G>A) c.1320G>A (p.Leu440=) c.*936G>A (n.*936G>A) c.2106+177374G>A (n.2106+177374G>A) | gnomAD v4 |
3 | g.184322081G>C | CA355390833 | EIF2B5,EIF4G1 | c.1497G>C (p.Leu499Phe) c.1431G>C (p.Leu477Phe) c.867G>C (p.Leu289Phe) c.909G>C (p.Leu303Phe) c.1005G>C (p.Leu335Phe) c.1518G>C (p.Leu506Phe) c.1236G>C (p.Leu412Phe) c.1377G>C (p.Leu459Phe) c.*1004G>C (n.*1004G>C) c.1320G>C (p.Leu440Phe) c.*936G>C (n.*936G>C) c.2106+177374G>C (n.2106+177374G>C) | |
3 | g.184322081G>T | CA355390832 | EIF2B5,EIF4G1 | c.1497G>T (p.Leu499Phe) c.1431G>T (p.Leu477Phe) c.867G>T (p.Leu289Phe) c.909G>T (p.Leu303Phe) c.1005G>T (p.Leu335Phe) c.1518G>T (p.Leu506Phe) c.1236G>T (p.Leu412Phe) c.1377G>T (p.Leu459Phe) c.*1004G>T (n.*1004G>T) c.1320G>T (p.Leu440Phe) c.*936G>T (n.*936G>T) c.2106+177374G>T (n.2106+177374G>T) | |
3 | g.184322082G>A | CA355390836 | EIF2B5,EIF4G1 | c.1498G>A (p.Glu500Lys) c.1432G>A (p.Glu478Lys) c.868G>A (p.Glu290Lys) c.910G>A (p.Glu304Lys) c.1006G>A (p.Glu336Lys) c.1519G>A (p.Glu507Lys) c.1237G>A (p.Glu413Lys) c.1378G>A (p.Glu460Lys) c.*1005G>A (n.*1005G>A) c.1321G>A (p.Glu441Lys) c.*937G>A (n.*937G>A) c.2106+177375G>A (n.2106+177375G>A) | |
3 | g.184322082G>C | CA355390839 | EIF2B5,EIF4G1 | c.1498G>C (p.Glu500Gln) c.1432G>C (p.Glu478Gln) c.868G>C (p.Glu290Gln) c.910G>C (p.Glu304Gln) c.1006G>C (p.Glu336Gln) c.1519G>C (p.Glu507Gln) c.1237G>C (p.Glu413Gln) c.1378G>C (p.Glu460Gln) c.*1005G>C (n.*1005G>C) c.1321G>C (p.Glu441Gln) c.*937G>C (n.*937G>C) c.2106+177375G>C (n.2106+177375G>C) | gnomAD v4 |
3 | g.184322082G>T | CA355390841 | EIF2B5,EIF4G1 | c.1498G>T (p.Glu500Ter) c.1432G>T (p.Glu478Ter) c.868G>T (p.Glu290Ter) c.910G>T (p.Glu304Ter) c.1006G>T (p.Glu336Ter) c.1519G>T (p.Glu507Ter) c.1237G>T (p.Glu413Ter) c.1378G>T (p.Glu460Ter) c.*1005G>T (n.*1005G>T) c.1321G>T (p.Glu441Ter) c.*937G>T (n.*937G>T) c.2106+177375G>T (n.2106+177375G>T) | |
3 | g.184322083A= | CA1425953197 | EIF2B5,EIF4G1 | c.1499A= (p.Glu500=) c.1433A= (p.Glu478=) c.869A= (p.Glu290=) c.911A= (p.Glu304=) c.1007A= (p.Glu336=) c.1520A= (p.Glu507=) c.1238A= (p.Glu413=) c.1379A= (p.Glu460=) c.*1006A= (n.*1006A=) c.1322A= (p.Glu441=) c.*938A= (n.*938A=) c.2106+177376A= (n.2106+177376A=) | |
3 | g.184322083A>C | CA355390845 | EIF2B5,EIF4G1 | c.1499A>C (p.Glu500Ala) c.1433A>C (p.Glu478Ala) c.869A>C (p.Glu290Ala) c.911A>C (p.Glu304Ala) c.1007A>C (p.Glu336Ala) c.1520A>C (p.Glu507Ala) c.1238A>C (p.Glu413Ala) c.1379A>C (p.Glu460Ala) c.*1006A>C (n.*1006A>C) c.1322A>C (p.Glu441Ala) c.*938A>C (n.*938A>C) c.2106+177376A>C (n.2106+177376A>C) | |
3 | g.184322083A>G | CA355390847 | EIF2B5,EIF4G1 | c.1499A>G (p.Glu500Gly) c.1433A>G (p.Glu478Gly) c.869A>G (p.Glu290Gly) c.911A>G (p.Glu304Gly) c.1007A>G (p.Glu336Gly) c.1520A>G (p.Glu507Gly) c.1238A>G (p.Glu413Gly) c.1379A>G (p.Glu460Gly) c.*1006A>G (n.*1006A>G) c.1322A>G (p.Glu441Gly) c.*938A>G (n.*938A>G) c.2106+177376A>G (n.2106+177376A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184322083A>T | CA355390850 | EIF2B5,EIF4G1 | c.1499A>T (p.Glu500Val) c.1433A>T (p.Glu478Val) c.869A>T (p.Glu290Val) c.911A>T (p.Glu304Val) c.1007A>T (p.Glu336Val) c.1520A>T (p.Glu507Val) c.1238A>T (p.Glu413Val) c.1379A>T (p.Glu460Val) c.*1006A>T (n.*1006A>T) c.1322A>T (p.Glu441Val) c.*938A>T (n.*938A>T) c.2106+177376A>T (n.2106+177376A>T) | |
3 | g.184322084G>A | CA2732209 | EIF2B5,EIF4G1 | c.1500G>A (p.Glu500=) c.1434G>A (p.Glu478=) c.870G>A (p.Glu290=) c.912G>A (p.Glu304=) c.1008G>A (p.Glu336=) c.1521G>A (p.Glu507=) c.1239G>A (p.Glu413=) c.1380G>A (p.Glu460=) c.*1007G>A (n.*1007G>A) c.1323G>A (p.Glu441=) c.*939G>A (n.*939G>A) c.2106+177377G>A (n.2106+177377G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322084G>C | CA355390857 | EIF2B5,EIF4G1 | c.1500G>C (p.Glu500Asp) c.1434G>C (p.Glu478Asp) c.870G>C (p.Glu290Asp) c.912G>C (p.Glu304Asp) c.1008G>C (p.Glu336Asp) c.1521G>C (p.Glu507Asp) c.1239G>C (p.Glu413Asp) c.1380G>C (p.Glu460Asp) c.*1007G>C (n.*1007G>C) c.1323G>C (p.Glu441Asp) c.*939G>C (n.*939G>C) c.2106+177377G>C (n.2106+177377G>C) | |
3 | g.184322084G= | CA1425953199 | EIF2B5,EIF4G1 | c.1500G= (p.Glu500=) c.1434G= (p.Glu478=) c.870G= (p.Glu290=) c.912G= (p.Glu304=) c.1008G= (p.Glu336=) c.1521G= (p.Glu507=) c.1239G= (p.Glu413=) c.1380G= (p.Glu460=) c.*1007G= (n.*1007G=) c.1323G= (p.Glu441=) c.*939G= (n.*939G=) c.2106+177377G= (n.2106+177377G=) | |
3 | g.184322084G>T | CA355390855 | EIF2B5,EIF4G1 | c.1500G>T (p.Glu500Asp) c.1434G>T (p.Glu478Asp) c.870G>T (p.Glu290Asp) c.912G>T (p.Glu304Asp) c.1008G>T (p.Glu336Asp) c.1521G>T (p.Glu507Asp) c.1239G>T (p.Glu413Asp) c.1380G>T (p.Glu460Asp) c.*1007G>T (n.*1007G>T) c.1323G>T (p.Glu441Asp) c.*939G>T (n.*939G>T) c.2106+177377G>T (n.2106+177377G>T) | |
3 | g.184322084_184322086dup | CA2668830535 | EIF2B5,EIF4G1 | c.1500_1502dup (p.Ala501_Ala502insAla) c.1434_1436dup (p.Ala479_Ala480insAla) c.870_872dup (p.Ala291_Ala292insAla) c.912_914dup (p.Ala305_Ala306insAla) c.1008_1010dup (p.Ala337_Ala338insAla) c.1521_1523dup (p.Ala508_Ala509insAla) c.1239_1241dup (p.Ala414_Ala415insAla) c.1380_1382dup (p.Ala461_Ala462insAla) c.*1007_*1009dup (n.*1007_*1009dup) c.1323_1325dup (p.Ala442_Ala443insAla) c.*939_*941dup (n.*939_*941dup) c.2106+177377_2106+177379dup (n.2106+177377_2106+177379dup) | dbSNP gnomAD v4 |
3 | g.184322085G>A | CA355390864 | EIF2B5,EIF4G1 | c.1501G>A (p.Ala501Thr) c.1435G>A (p.Ala479Thr) c.871G>A (p.Ala291Thr) c.913G>A (p.Ala305Thr) c.1009G>A (p.Ala337Thr) c.1522G>A (p.Ala508Thr) c.1240G>A (p.Ala414Thr) c.1381G>A (p.Ala461Thr) c.*1008G>A (n.*1008G>A) c.1324G>A (p.Ala442Thr) c.*940G>A (n.*940G>A) c.2106+177378G>A (n.2106+177378G>A) | |
3 | g.184322085G>C | CA355390867 | EIF2B5,EIF4G1 | c.1501G>C (p.Ala501Pro) c.1435G>C (p.Ala479Pro) c.871G>C (p.Ala291Pro) c.913G>C (p.Ala305Pro) c.1009G>C (p.Ala337Pro) c.1522G>C (p.Ala508Pro) c.1240G>C (p.Ala414Pro) c.1381G>C (p.Ala461Pro) c.*1008G>C (n.*1008G>C) c.1324G>C (p.Ala442Pro) c.*940G>C (n.*940G>C) c.2106+177378G>C (n.2106+177378G>C) | |
3 | g.184322085G>T | CA355390871 | EIF2B5,EIF4G1 | c.1501G>T (p.Ala501Ser) c.1435G>T (p.Ala479Ser) c.871G>T (p.Ala291Ser) c.913G>T (p.Ala305Ser) c.1009G>T (p.Ala337Ser) c.1522G>T (p.Ala508Ser) c.1240G>T (p.Ala414Ser) c.1381G>T (p.Ala461Ser) c.*1008G>T (n.*1008G>T) c.1324G>T (p.Ala442Ser) c.*940G>T (n.*940G>T) c.2106+177378G>T (n.2106+177378G>T) | |
3 | g.184322093_184322095dup | CA2732208 | EIF2B5,EIF4G1 | c.1509_1511dup (p.Ala504_Thr505insAla) c.1443_1445dup (p.Ala482_Thr483insAla) c.879_881dup (p.Ala294_Thr295insAla) c.921_923dup (p.Ala308_Thr309insAla) c.1017_1019dup (p.Ala340_Thr341insAla) c.1530_1532dup (p.Ala511_Thr512insAla) c.1248_1250dup (p.Ala417_Thr418insAla) c.1389_1391dup (p.Ala464_Thr465insAla) c.*1016_*1018dup (n.*1016_*1018dup) c.1332_1334dup (p.Ala445_Thr446insAla) c.*948_*950dup (n.*948_*950dup) c.2106+177386_2106+177388dup (n.2106+177386_2106+177388dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184322086C>A | CA355390874 | EIF2B5,EIF4G1 | c.1502C>A (p.Ala501Glu) c.1436C>A (p.Ala479Glu) c.872C>A (p.Ala291Glu) c.914C>A (p.Ala305Glu) c.1010C>A (p.Ala337Glu) c.1523C>A (p.Ala508Glu) c.1241C>A (p.Ala414Glu) c.1382C>A (p.Ala461Glu) c.*1009C>A (n.*1009C>A) c.1325C>A (p.Ala442Glu) c.*941C>A (n.*941C>A) c.2106+177379C>A (n.2106+177379C>A) | |
3 | g.184322086C>G | CA355390880 | EIF2B5,EIF4G1 | c.1502C>G (p.Ala501Gly) c.1436C>G (p.Ala479Gly) c.872C>G (p.Ala291Gly) c.914C>G (p.Ala305Gly) c.1010C>G (p.Ala337Gly) c.1523C>G (p.Ala508Gly) c.1241C>G (p.Ala414Gly) c.1382C>G (p.Ala461Gly) c.*1009C>G (n.*1009C>G) c.1325C>G (p.Ala442Gly) c.*941C>G (n.*941C>G) c.2106+177379C>G (n.2106+177379C>G) | |
3 | g.184322086C>T | CA355390877 | EIF2B5,EIF4G1 | c.1502C>T (p.Ala501Val) c.1436C>T (p.Ala479Val) c.872C>T (p.Ala291Val) c.914C>T (p.Ala305Val) c.1010C>T (p.Ala337Val) c.1523C>T (p.Ala508Val) c.1241C>T (p.Ala414Val) c.1382C>T (p.Ala461Val) c.*1009C>T (n.*1009C>T) c.1325C>T (p.Ala442Val) c.*941C>T (n.*941C>T) c.2106+177379C>T (n.2106+177379C>T) | |
3 | g.184322087A= | CA1425953202 | EIF2B5,EIF4G1 | c.1503A= (p.Ala501=) c.1437A= (p.Ala479=) c.873A= (p.Ala291=) c.915A= (p.Ala305=) c.1011A= (p.Ala337=) c.1524A= (p.Ala508=) c.1242A= (p.Ala414=) c.1383A= (p.Ala461=) c.*1010A= (n.*1010A=) c.1326A= (p.Ala442=) c.*942A= (n.*942A=) c.2106+177380A= (n.2106+177380A=) | |
3 | g.184322087A>C | CA437329705 | EIF2B5,EIF4G1 | c.1503A>C (p.Ala501=) c.1437A>C (p.Ala479=) c.873A>C (p.Ala291=) c.915A>C (p.Ala305=) c.1011A>C (p.Ala337=) c.1524A>C (p.Ala508=) c.1242A>C (p.Ala414=) c.1383A>C (p.Ala461=) c.*1010A>C (n.*1010A>C) c.1326A>C (p.Ala442=) c.*942A>C (n.*942A>C) c.2106+177380A>C (n.2106+177380A>C) | |
3 | g.184322087A>G | CA437329704 | EIF2B5,EIF4G1 | c.1503A>G (p.Ala501=) c.1437A>G (p.Ala479=) c.873A>G (p.Ala291=) c.915A>G (p.Ala305=) c.1011A>G (p.Ala337=) c.1524A>G (p.Ala508=) c.1242A>G (p.Ala414=) c.1383A>G (p.Ala461=) c.*1010A>G (n.*1010A>G) c.1326A>G (p.Ala442=) c.*942A>G (n.*942A>G) c.2106+177380A>G (n.2106+177380A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184322087A>T | CA437329703 | EIF2B5,EIF4G1 | c.1503A>T (p.Ala501=) c.1437A>T (p.Ala479=) c.873A>T (p.Ala291=) c.915A>T (p.Ala305=) c.1011A>T (p.Ala337=) c.1524A>T (p.Ala508=) c.1242A>T (p.Ala414=) c.1383A>T (p.Ala461=) c.*1010A>T (n.*1010A>T) c.1326A>T (p.Ala442=) c.*942A>T (n.*942A>T) c.2106+177380A>T (n.2106+177380A>T) | |
3 | g.184322088G>A | CA2732210 | EIF2B5,EIF4G1 | c.1504G>A (p.Ala502Thr) c.1438G>A (p.Ala480Thr) c.874G>A (p.Ala292Thr) c.916G>A (p.Ala306Thr) c.1012G>A (p.Ala338Thr) c.1525G>A (p.Ala509Thr) c.1243G>A (p.Ala415Thr) c.1384G>A (p.Ala462Thr) c.*1011G>A (n.*1011G>A) c.1327G>A (p.Ala443Thr) c.*943G>A (n.*943G>A) c.2106+177381G>A (n.2106+177381G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322088G>C | CA355390887 | EIF2B5,EIF4G1 | c.1504G>C (p.Ala502Pro) c.1438G>C (p.Ala480Pro) c.874G>C (p.Ala292Pro) c.916G>C (p.Ala306Pro) c.1012G>C (p.Ala338Pro) c.1525G>C (p.Ala509Pro) c.1243G>C (p.Ala415Pro) c.1384G>C (p.Ala462Pro) c.*1011G>C (n.*1011G>C) c.1327G>C (p.Ala443Pro) c.*943G>C (n.*943G>C) c.2106+177381G>C (n.2106+177381G>C) | |
3 | g.184322088G= | CA1425953204 | EIF2B5,EIF4G1 | c.1504G= (p.Ala502=) c.1438G= (p.Ala480=) c.874G= (p.Ala292=) c.916G= (p.Ala306=) c.1012G= (p.Ala338=) c.1525G= (p.Ala509=) c.1243G= (p.Ala415=) c.1384G= (p.Ala462=) c.*1011G= (n.*1011G=) c.1327G= (p.Ala443=) c.*943G= (n.*943G=) c.2106+177381G= (n.2106+177381G=) | |
3 | g.184322088G>T | CA355390889 | EIF2B5,EIF4G1 | c.1504G>T (p.Ala502Ser) c.1438G>T (p.Ala480Ser) c.874G>T (p.Ala292Ser) c.916G>T (p.Ala306Ser) c.1012G>T (p.Ala338Ser) c.1525G>T (p.Ala509Ser) c.1243G>T (p.Ala415Ser) c.1384G>T (p.Ala462Ser) c.*1011G>T (n.*1011G>T) c.1327G>T (p.Ala443Ser) c.*943G>T (n.*943G>T) c.2106+177381G>T (n.2106+177381G>T) | |
3 | g.184322089C>A | CA355390893 | EIF2B5,EIF4G1 | c.1505C>A (p.Ala502Glu) c.1439C>A (p.Ala480Glu) c.875C>A (p.Ala292Glu) c.917C>A (p.Ala306Glu) c.1013C>A (p.Ala338Glu) c.1526C>A (p.Ala509Glu) c.1244C>A (p.Ala415Glu) c.1385C>A (p.Ala462Glu) c.*1012C>A (n.*1012C>A) c.1328C>A (p.Ala443Glu) c.*944C>A (n.*944C>A) c.2106+177382C>A (n.2106+177382C>A) | |
3 | g.184322089C= | CA1425953206 | EIF2B5,EIF4G1 | c.1505C= (p.Ala502=) c.1439C= (p.Ala480=) c.875C= (p.Ala292=) c.917C= (p.Ala306=) c.1013C= (p.Ala338=) c.1526C= (p.Ala509=) c.1244C= (p.Ala415=) c.1385C= (p.Ala462=) c.*1012C= (n.*1012C=) c.1328C= (p.Ala443=) c.*944C= (n.*944C=) c.2106+177382C= (n.2106+177382C=) | |
3 | g.184322089C>G | CA355390895 | EIF2B5,EIF4G1 | c.1505C>G (p.Ala502Gly) c.1439C>G (p.Ala480Gly) c.875C>G (p.Ala292Gly) c.917C>G (p.Ala306Gly) c.1013C>G (p.Ala338Gly) c.1526C>G (p.Ala509Gly) c.1244C>G (p.Ala415Gly) c.1385C>G (p.Ala462Gly) c.*1012C>G (n.*1012C>G) c.1328C>G (p.Ala443Gly) c.*944C>G (n.*944C>G) c.2106+177382C>G (n.2106+177382C>G) | |
3 | g.184322089C>T | CA128911 | EIF2B5,EIF4G1 | c.1505C>T (p.Ala502Val) c.1439C>T (p.Ala480Val) c.875C>T (p.Ala292Val) c.917C>T (p.Ala306Val) c.1013C>T (p.Ala338Val) c.1526C>T (p.Ala509Val) c.1244C>T (p.Ala415Val) c.1385C>T (p.Ala462Val) c.*1012C>T (n.*1012C>T) c.1328C>T (p.Ala443Val) c.*944C>T (n.*944C>T) c.2106+177382C>T (n.2106+177382C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184322090A= | CA1425953209 | EIF2B5,EIF4G1 | c.1506A= (p.Ala502=) c.1440A= (p.Ala480=) c.876A= (p.Ala292=) c.918A= (p.Ala306=) c.1014A= (p.Ala338=) c.1527A= (p.Ala509=) c.1245A= (p.Ala415=) c.1386A= (p.Ala462=) c.*1013A= (n.*1013A=) c.1329A= (p.Ala443=) c.*945A= (n.*945A=) c.2106+177383A= (n.2106+177383A=) | |
3 | g.184322090A>C | CA437329706 | EIF2B5,EIF4G1 | c.1506A>C (p.Ala502=) c.1440A>C (p.Ala480=) c.876A>C (p.Ala292=) c.918A>C (p.Ala306=) c.1014A>C (p.Ala338=) c.1527A>C (p.Ala509=) c.1245A>C (p.Ala415=) c.1386A>C (p.Ala462=) c.*1013A>C (n.*1013A>C) c.1329A>C (p.Ala443=) c.*945A>C (n.*945A>C) c.2106+177383A>C (n.2106+177383A>C) | dbSNP gnomAD v4 |
3 | g.184322090A>G | CA437329707 | EIF2B5,EIF4G1 | c.1506A>G (p.Ala502=) c.1440A>G (p.Ala480=) c.876A>G (p.Ala292=) c.918A>G (p.Ala306=) c.1014A>G (p.Ala338=) c.1527A>G (p.Ala509=) c.1245A>G (p.Ala415=) c.1386A>G (p.Ala462=) c.*1013A>G (n.*1013A>G) c.1329A>G (p.Ala443=) c.*945A>G (n.*945A>G) c.2106+177383A>G (n.2106+177383A>G) | dbSNP gnomAD v4 |
3 | g.184322090A>T | CA437329708 | EIF2B5,EIF4G1 | c.1506A>T (p.Ala502=) c.1440A>T (p.Ala480=) c.876A>T (p.Ala292=) c.918A>T (p.Ala306=) c.1014A>T (p.Ala338=) c.1527A>T (p.Ala509=) c.1245A>T (p.Ala415=) c.1386A>T (p.Ala462=) c.*1013A>T (n.*1013A>T) c.1329A>T (p.Ala443=) c.*945A>T (n.*945A>T) c.2106+177383A>T (n.2106+177383A>T) | |
3 | g.184322091G>A | CA355390901 | EIF2B5,EIF4G1 | c.1507G>A (p.Ala503Thr) c.1441G>A (p.Ala481Thr) c.877G>A (p.Ala293Thr) c.919G>A (p.Ala307Thr) c.1015G>A (p.Ala339Thr) c.1528G>A (p.Ala510Thr) c.1246G>A (p.Ala416Thr) c.1387G>A (p.Ala463Thr) c.*1014G>A (n.*1014G>A) c.1330G>A (p.Ala444Thr) c.*946G>A (n.*946G>A) c.2106+177384G>A (n.2106+177384G>A) | |
3 | g.184322091G>C | CA2732211 | EIF2B5,EIF4G1 | c.1507G>C (p.Ala503Pro) c.1441G>C (p.Ala481Pro) c.877G>C (p.Ala293Pro) c.919G>C (p.Ala307Pro) c.1015G>C (p.Ala339Pro) c.1528G>C (p.Ala510Pro) c.1246G>C (p.Ala416Pro) c.1387G>C (p.Ala463Pro) c.*1014G>C (n.*1014G>C) c.1330G>C (p.Ala444Pro) c.*946G>C (n.*946G>C) c.2106+177384G>C (n.2106+177384G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184322091G= | CA1425953211 | EIF2B5,EIF4G1 | c.1507G= (p.Ala503=) c.1441G= (p.Ala481=) c.877G= (p.Ala293=) c.919G= (p.Ala307=) c.1015G= (p.Ala339=) c.1528G= (p.Ala510=) c.1246G= (p.Ala416=) c.1387G= (p.Ala463=) c.*1014G= (n.*1014G=) c.1330G= (p.Ala444=) c.*946G= (n.*946G=) c.2106+177384G= (n.2106+177384G=) | |
3 | g.184322091G>T | CA355390904 | EIF2B5,EIF4G1 | c.1507G>T (p.Ala503Ser) c.1441G>T (p.Ala481Ser) c.877G>T (p.Ala293Ser) c.919G>T (p.Ala307Ser) c.1015G>T (p.Ala339Ser) c.1528G>T (p.Ala510Ser) c.1246G>T (p.Ala416Ser) c.1387G>T (p.Ala463Ser) c.*1014G>T (n.*1014G>T) c.1330G>T (p.Ala444Ser) c.*946G>T (n.*946G>T) c.2106+177384G>T (n.2106+177384G>T) |