Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.184321949_184321951delCA548795497EIF2B5,EIF4G1c.1365_1367del (p.Glu456del)
c.1299_1301del (p.Glu434del)
c.735_737del (p.Glu246del)
c.777_779del (p.Glu260del)
c.873_875del (p.Glu292del)
c.1386_1388del (p.Glu463del)
c.1104_1106del (p.Glu369del)
c.1245_1247del (p.Glu416del)
c.*872_*874del (n.*872_*874del)
c.1188_1190del (p.Glu397del)
c.*804_*806del (n.*804_*806del)
c.2106+177242_2106+177244del (n.2106+177242_2106+177244del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184321945A>CCA355389482EIF2B5,EIF4G1c.1361A>C (p.Glu454Ala)
c.1295A>C (p.Glu432Ala)
c.731A>C (p.Glu244Ala)
c.773A>C (p.Glu258Ala)
c.869A>C (p.Glu290Ala)
c.1382A>C (p.Glu461Ala)
c.1100A>C (p.Glu367Ala)
c.1241A>C (p.Glu414Ala)
c.*868A>C (n.*868A>C)
c.1184A>C (p.Glu395Ala)
c.*800A>C (n.*800A>C)
c.2106+177238A>C (n.2106+177238A>C)
3g.184321945A>GCA355389476EIF2B5,EIF4G1c.1361A>G (p.Glu454Gly)
c.1295A>G (p.Glu432Gly)
c.731A>G (p.Glu244Gly)
c.773A>G (p.Glu258Gly)
c.869A>G (p.Glu290Gly)
c.1382A>G (p.Glu461Gly)
c.1100A>G (p.Glu367Gly)
c.1241A>G (p.Glu414Gly)
c.*868A>G (n.*868A>G)
c.1184A>G (p.Glu395Gly)
c.*800A>G (n.*800A>G)
c.2106+177238A>G (n.2106+177238A>G)
3g.184321945A>TCA355389478EIF2B5,EIF4G1c.1361A>T (p.Glu454Val)
c.1295A>T (p.Glu432Val)
c.731A>T (p.Glu244Val)
c.773A>T (p.Glu258Val)
c.869A>T (p.Glu290Val)
c.1382A>T (p.Glu461Val)
c.1100A>T (p.Glu367Val)
c.1241A>T (p.Glu414Val)
c.*868A>T (n.*868A>T)
c.1184A>T (p.Glu395Val)
c.*800A>T (n.*800A>T)
c.2106+177238A>T (n.2106+177238A>T)
3g.184321946G>ACA437329569EIF2B5,EIF4G1c.1362G>A (p.Glu454=)
c.1296G>A (p.Glu432=)
c.732G>A (p.Glu244=)
c.774G>A (p.Glu258=)
c.870G>A (p.Glu290=)
c.1383G>A (p.Glu461=)
c.1101G>A (p.Glu367=)
c.1242G>A (p.Glu414=)
c.*869G>A (n.*869G>A)
c.1185G>A (p.Glu395=)
c.*801G>A (n.*801G>A)
c.2106+177239G>A (n.2106+177239G>A)
 dbSNP gnomAD v4
3g.184321946G>CCA355389486EIF2B5,EIF4G1c.1362G>C (p.Glu454Asp)
c.1296G>C (p.Glu432Asp)
c.732G>C (p.Glu244Asp)
c.774G>C (p.Glu258Asp)
c.870G>C (p.Glu290Asp)
c.1383G>C (p.Glu461Asp)
c.1101G>C (p.Glu367Asp)
c.1242G>C (p.Glu414Asp)
c.*869G>C (n.*869G>C)
c.1185G>C (p.Glu395Asp)
c.*801G>C (n.*801G>C)
c.2106+177239G>C (n.2106+177239G>C)
3g.184321946G=CA1425952942EIF2B5,EIF4G1c.1362G= (p.Glu454=)
c.1296G= (p.Glu432=)
c.732G= (p.Glu244=)
c.774G= (p.Glu258=)
c.870G= (p.Glu290=)
c.1383G= (p.Glu461=)
c.1101G= (p.Glu367=)
c.1242G= (p.Glu414=)
c.*869G= (n.*869G=)
c.1185G= (p.Glu395=)
c.*801G= (n.*801G=)
c.2106+177239G= (n.2106+177239G=)
3g.184321946G>TCA355389488EIF2B5,EIF4G1c.1362G>T (p.Glu454Asp)
c.1296G>T (p.Glu432Asp)
c.732G>T (p.Glu244Asp)
c.774G>T (p.Glu258Asp)
c.870G>T (p.Glu290Asp)
c.1383G>T (p.Glu461Asp)
c.1101G>T (p.Glu367Asp)
c.1242G>T (p.Glu414Asp)
c.*869G>T (n.*869G>T)
c.1185G>T (p.Glu395Asp)
c.*801G>T (n.*801G>T)
c.2106+177239G>T (n.2106+177239G>T)
3g.184321947G>ACA355389492EIF2B5,EIF4G1c.1363G>A (p.Glu455Lys)
c.1297G>A (p.Glu433Lys)
c.733G>A (p.Glu245Lys)
c.775G>A (p.Glu259Lys)
c.871G>A (p.Glu291Lys)
c.1384G>A (p.Glu462Lys)
c.1102G>A (p.Glu368Lys)
c.1243G>A (p.Glu415Lys)
c.*870G>A (n.*870G>A)
c.1186G>A (p.Glu396Lys)
c.*802G>A (n.*802G>A)
c.2106+177240G>A (n.2106+177240G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184321947G>CCA355389495EIF2B5,EIF4G1c.1363G>C (p.Glu455Gln)
c.1297G>C (p.Glu433Gln)
c.733G>C (p.Glu245Gln)
c.775G>C (p.Glu259Gln)
c.871G>C (p.Glu291Gln)
c.1384G>C (p.Glu462Gln)
c.1102G>C (p.Glu368Gln)
c.1243G>C (p.Glu415Gln)
c.*870G>C (n.*870G>C)
c.1186G>C (p.Glu396Gln)
c.*802G>C (n.*802G>C)
c.2106+177240G>C (n.2106+177240G>C)
3g.184321947G=CA1425952946EIF2B5,EIF4G1c.1363G= (p.Glu455=)
c.1297G= (p.Glu433=)
c.733G= (p.Glu245=)
c.775G= (p.Glu259=)
c.871G= (p.Glu291=)
c.1384G= (p.Glu462=)
c.1102G= (p.Glu368=)
c.1243G= (p.Glu415=)
c.*870G= (n.*870G=)
c.1186G= (p.Glu396=)
c.*802G= (n.*802G=)
c.2106+177240G= (n.2106+177240G=)
3g.184321947G>TCA355389497EIF2B5,EIF4G1c.1363G>T (p.Glu455Ter)
c.1297G>T (p.Glu433Ter)
c.733G>T (p.Glu245Ter)
c.775G>T (p.Glu259Ter)
c.871G>T (p.Glu291Ter)
c.1384G>T (p.Glu462Ter)
c.1102G>T (p.Glu368Ter)
c.1243G>T (p.Glu415Ter)
c.*870G>T (n.*870G>T)
c.1186G>T (p.Glu396Ter)
c.*802G>T (n.*802G>T)
c.2106+177240G>T (n.2106+177240G>T)
3g.184321948A>CCA355389502EIF2B5,EIF4G1c.1364A>C (p.Glu455Ala)
c.1298A>C (p.Glu433Ala)
c.734A>C (p.Glu245Ala)
c.776A>C (p.Glu259Ala)
c.872A>C (p.Glu291Ala)
c.1385A>C (p.Glu462Ala)
c.1103A>C (p.Glu368Ala)
c.1244A>C (p.Glu415Ala)
c.*871A>C (n.*871A>C)
c.1187A>C (p.Glu396Ala)
c.*803A>C (n.*803A>C)
c.2106+177241A>C (n.2106+177241A>C)
3g.184321948A>GCA355389506EIF2B5,EIF4G1c.1364A>G (p.Glu455Gly)
c.1298A>G (p.Glu433Gly)
c.734A>G (p.Glu245Gly)
c.776A>G (p.Glu259Gly)
c.872A>G (p.Glu291Gly)
c.1385A>G (p.Glu462Gly)
c.1103A>G (p.Glu368Gly)
c.1244A>G (p.Glu415Gly)
c.*871A>G (n.*871A>G)
c.1187A>G (p.Glu396Gly)
c.*803A>G (n.*803A>G)
c.2106+177241A>G (n.2106+177241A>G)
 gnomAD v4
3g.184321948A>TCA355389509EIF2B5,EIF4G1c.1364A>T (p.Glu455Val)
c.1298A>T (p.Glu433Val)
c.734A>T (p.Glu245Val)
c.776A>T (p.Glu259Val)
c.872A>T (p.Glu291Val)
c.1385A>T (p.Glu462Val)
c.1103A>T (p.Glu368Val)
c.1244A>T (p.Glu415Val)
c.*871A>T (n.*871A>T)
c.1187A>T (p.Glu396Val)
c.*803A>T (n.*803A>T)
c.2106+177241A>T (n.2106+177241A>T)
3g.184321949G>ACA2732167EIF2B5,EIF4G1c.1365G>A (p.Glu455=)
c.1299G>A (p.Glu433=)
c.735G>A (p.Glu245=)
c.777G>A (p.Glu259=)
c.873G>A (p.Glu291=)
c.1386G>A (p.Glu462=)
c.1104G>A (p.Glu368=)
c.1245G>A (p.Glu415=)
c.*872G>A (n.*872G>A)
c.1188G>A (p.Glu396=)
c.*804G>A (n.*804G>A)
c.2106+177242G>A (n.2106+177242G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184321949G>CCA355389514EIF2B5,EIF4G1c.1365G>C (p.Glu455Asp)
c.1299G>C (p.Glu433Asp)
c.735G>C (p.Glu245Asp)
c.777G>C (p.Glu259Asp)
c.873G>C (p.Glu291Asp)
c.1386G>C (p.Glu462Asp)
c.1104G>C (p.Glu368Asp)
c.1245G>C (p.Glu415Asp)
c.*872G>C (n.*872G>C)
c.1188G>C (p.Glu396Asp)
c.*804G>C (n.*804G>C)
c.2106+177242G>C (n.2106+177242G>C)
3g.184321949G=CA1425952948EIF2B5,EIF4G1c.1365G= (p.Glu455=)
c.1299G= (p.Glu433=)
c.735G= (p.Glu245=)
c.777G= (p.Glu259=)
c.873G= (p.Glu291=)
c.1386G= (p.Glu462=)
c.1104G= (p.Glu368=)
c.1245G= (p.Glu415=)
c.*872G= (n.*872G=)
c.1188G= (p.Glu396=)
c.*804G= (n.*804G=)
c.2106+177242G= (n.2106+177242G=)
3g.184321949G>TCA355389518EIF2B5,EIF4G1c.1365G>T (p.Glu455Asp)
c.1299G>T (p.Glu433Asp)
c.735G>T (p.Glu245Asp)
c.777G>T (p.Glu259Asp)
c.873G>T (p.Glu291Asp)
c.1386G>T (p.Glu462Asp)
c.1104G>T (p.Glu368Asp)
c.1245G>T (p.Glu415Asp)
c.*872G>T (n.*872G>T)
c.1188G>T (p.Glu396Asp)
c.*804G>T (n.*804G>T)
c.2106+177242G>T (n.2106+177242G>T)
 COSMIC
3g.184321950G>ACA355389531EIF2B5,EIF4G1c.1366G>A (p.Glu456Lys)
c.1300G>A (p.Glu434Lys)
c.736G>A (p.Glu246Lys)
c.778G>A (p.Glu260Lys)
c.874G>A (p.Glu292Lys)
c.1387G>A (p.Glu463Lys)
c.1105G>A (p.Glu369Lys)
c.1246G>A (p.Glu416Lys)
c.*873G>A (n.*873G>A)
c.1189G>A (p.Glu397Lys)
c.*805G>A (n.*805G>A)
c.2106+177243G>A (n.2106+177243G>A)
 gnomAD v4
3g.184321950G>CCA355389524EIF2B5,EIF4G1c.1366G>C (p.Glu456Gln)
c.1300G>C (p.Glu434Gln)
c.736G>C (p.Glu246Gln)
c.778G>C (p.Glu260Gln)
c.874G>C (p.Glu292Gln)
c.1387G>C (p.Glu463Gln)
c.1105G>C (p.Glu369Gln)
c.1246G>C (p.Glu416Gln)
c.*873G>C (n.*873G>C)
c.1189G>C (p.Glu397Gln)
c.*805G>C (n.*805G>C)
c.2106+177243G>C (n.2106+177243G>C)
3g.184321950G>TCA355389527EIF2B5,EIF4G1c.1366G>T (p.Glu456Ter)
c.1300G>T (p.Glu434Ter)
c.736G>T (p.Glu246Ter)
c.778G>T (p.Glu260Ter)
c.874G>T (p.Glu292Ter)
c.1387G>T (p.Glu463Ter)
c.1105G>T (p.Glu369Ter)
c.1246G>T (p.Glu416Ter)
c.*873G>T (n.*873G>T)
c.1189G>T (p.Glu397Ter)
c.*805G>T (n.*805G>T)
c.2106+177243G>T (n.2106+177243G>T)
3g.184321951A=CA1425952950EIF2B5,EIF4G1c.1367A= (p.Glu456=)
c.1301A= (p.Glu434=)
c.737A= (p.Glu246=)
c.779A= (p.Glu260=)
c.875A= (p.Glu292=)
c.1388A= (p.Glu463=)
c.1106A= (p.Glu369=)
c.1247A= (p.Glu416=)
c.*874A= (n.*874A=)
c.1190A= (p.Glu397=)
c.*806A= (n.*806A=)
c.2106+177244A= (n.2106+177244A=)
3g.184321951A>CCA355389534EIF2B5,EIF4G1c.1367A>C (p.Glu456Ala)
c.1301A>C (p.Glu434Ala)
c.737A>C (p.Glu246Ala)
c.779A>C (p.Glu260Ala)
c.875A>C (p.Glu292Ala)
c.1388A>C (p.Glu463Ala)
c.1106A>C (p.Glu369Ala)
c.1247A>C (p.Glu416Ala)
c.*874A>C (n.*874A>C)
c.1190A>C (p.Glu397Ala)
c.*806A>C (n.*806A>C)
c.2106+177244A>C (n.2106+177244A>C)
3g.184321951A>GCA355389538EIF2B5,EIF4G1c.1367A>G (p.Glu456Gly)
c.1301A>G (p.Glu434Gly)
c.737A>G (p.Glu246Gly)
c.779A>G (p.Glu260Gly)
c.875A>G (p.Glu292Gly)
c.1388A>G (p.Glu463Gly)
c.1106A>G (p.Glu369Gly)
c.1247A>G (p.Glu416Gly)
c.*874A>G (n.*874A>G)
c.1190A>G (p.Glu397Gly)
c.*806A>G (n.*806A>G)
c.2106+177244A>G (n.2106+177244A>G)
 dbSNP
3g.184321951A>TCA355389540EIF2B5,EIF4G1c.1367A>T (p.Glu456Val)
c.1301A>T (p.Glu434Val)
c.737A>T (p.Glu246Val)
c.779A>T (p.Glu260Val)
c.875A>T (p.Glu292Val)
c.1388A>T (p.Glu463Val)
c.1106A>T (p.Glu369Val)
c.1247A>T (p.Glu416Val)
c.*874A>T (n.*874A>T)
c.1190A>T (p.Glu397Val)
c.*806A>T (n.*806A>T)
c.2106+177244A>T (n.2106+177244A>T)
3g.184321952A>CCA355389544EIF2B5,EIF4G1c.1368A>C (p.Glu456Asp)
c.1302A>C (p.Glu434Asp)
c.738A>C (p.Glu246Asp)
c.780A>C (p.Glu260Asp)
c.876A>C (p.Glu292Asp)
c.1389A>C (p.Glu463Asp)
c.1107A>C (p.Glu369Asp)
c.1248A>C (p.Glu416Asp)
c.*875A>C (n.*875A>C)
c.1191A>C (p.Glu397Asp)
c.*807A>C (n.*807A>C)
c.2106+177245A>C (n.2106+177245A>C)
3g.184321952A>GCA437329571EIF2B5,EIF4G1c.1368A>G (p.Glu456=)
c.1302A>G (p.Glu434=)
c.738A>G (p.Glu246=)
c.780A>G (p.Glu260=)
c.876A>G (p.Glu292=)
c.1389A>G (p.Glu463=)
c.1107A>G (p.Glu369=)
c.1248A>G (p.Glu416=)
c.*875A>G (n.*875A>G)
c.1191A>G (p.Glu397=)
c.*807A>G (n.*807A>G)
c.2106+177245A>G (n.2106+177245A>G)
3g.184321952A>TCA355389547EIF2B5,EIF4G1c.1368A>T (p.Glu456Asp)
c.1302A>T (p.Glu434Asp)
c.738A>T (p.Glu246Asp)
c.780A>T (p.Glu260Asp)
c.876A>T (p.Glu292Asp)
c.1389A>T (p.Glu463Asp)
c.1107A>T (p.Glu369Asp)
c.1248A>T (p.Glu416Asp)
c.*875A>T (n.*875A>T)
c.1191A>T (p.Glu397Asp)
c.*807A>T (n.*807A>T)
c.2106+177245A>T (n.2106+177245A>T)
3g.184321953A=CA1425952956EIF2B5,EIF4G1c.1369A= (p.Met457=)
c.1303A= (p.Met435=)
c.739A= (p.Met247=)
c.781A= (p.Met261=)
c.877A= (p.Met293=)
c.1390A= (p.Met464=)
c.1108A= (p.Met370=)
c.1249A= (p.Met417=)
c.*876A= (n.*876A=)
c.1192A= (p.Met398=)
c.*808A= (n.*808A=)
c.2106+177246A= (n.2106+177246A=)
3g.184321953A>CCA355389565EIF2B5,EIF4G1c.1369A>C (p.Met457Leu)
c.1303A>C (p.Met435Leu)
c.739A>C (p.Met247Leu)
c.781A>C (p.Met261Leu)
c.877A>C (p.Met293Leu)
c.1390A>C (p.Met464Leu)
c.1108A>C (p.Met370Leu)
c.1249A>C (p.Met417Leu)
c.*876A>C (n.*876A>C)
c.1192A>C (p.Met398Leu)
c.*808A>C (n.*808A>C)
c.2106+177246A>C (n.2106+177246A>C)
3g.184321953A>GCA88863363EIF2B5,EIF4G1c.1369A>G (p.Met457Val)
c.1303A>G (p.Met435Val)
c.739A>G (p.Met247Val)
c.781A>G (p.Met261Val)
c.877A>G (p.Met293Val)
c.1390A>G (p.Met464Val)
c.1108A>G (p.Met370Val)
c.1249A>G (p.Met417Val)
c.*876A>G (n.*876A>G)
c.1192A>G (p.Met398Val)
c.*808A>G (n.*808A>G)
c.2106+177246A>G (n.2106+177246A>G)
 dbSNP gnomAD v2 COSMIC
3g.184321953A>TCA355389568EIF2B5,EIF4G1c.1369A>T (p.Met457Leu)
c.1303A>T (p.Met435Leu)
c.739A>T (p.Met247Leu)
c.781A>T (p.Met261Leu)
c.877A>T (p.Met293Leu)
c.1390A>T (p.Met464Leu)
c.1108A>T (p.Met370Leu)
c.1249A>T (p.Met417Leu)
c.*876A>T (n.*876A>T)
c.1192A>T (p.Met398Leu)
c.*808A>T (n.*808A>T)
c.2106+177246A>T (n.2106+177246A>T)
3g.184321954T>ACA355389576EIF2B5,EIF4G1c.1370T>A (p.Met457Lys)
c.1304T>A (p.Met435Lys)
c.740T>A (p.Met247Lys)
c.782T>A (p.Met261Lys)
c.878T>A (p.Met293Lys)
c.1391T>A (p.Met464Lys)
c.1109T>A (p.Met370Lys)
c.1250T>A (p.Met417Lys)
c.*877T>A (n.*877T>A)
c.1193T>A (p.Met398Lys)
c.*809T>A (n.*809T>A)
c.2106+177247T>A (n.2106+177247T>A)
3g.184321954T>CCA355389579EIF2B5,EIF4G1c.1370T>C (p.Met457Thr)
c.1304T>C (p.Met435Thr)
c.740T>C (p.Met247Thr)
c.782T>C (p.Met261Thr)
c.878T>C (p.Met293Thr)
c.1391T>C (p.Met464Thr)
c.1109T>C (p.Met370Thr)
c.1250T>C (p.Met417Thr)
c.*877T>C (n.*877T>C)
c.1193T>C (p.Met398Thr)
c.*809T>C (n.*809T>C)
c.2106+177247T>C (n.2106+177247T>C)
3g.184321954T>GCA355389582EIF2B5,EIF4G1c.1370T>G (p.Met457Arg)
c.1304T>G (p.Met435Arg)
c.740T>G (p.Met247Arg)
c.782T>G (p.Met261Arg)
c.878T>G (p.Met293Arg)
c.1391T>G (p.Met464Arg)
c.1109T>G (p.Met370Arg)
c.1250T>G (p.Met417Arg)
c.*877T>G (n.*877T>G)
c.1193T>G (p.Met398Arg)
c.*809T>G (n.*809T>G)
c.2106+177247T>G (n.2106+177247T>G)
3g.184321954_184321972delinsTGGAAGAAGAAGAAGAAGACA1425952960EIF2B5,EIF4G1c.1370_1388delinsTGGAAGAAGAAGAAGAAGA (p.Met457=)
c.1304_1322delinsTGGAAGAAGAAGAAGAAGA (p.Met435=)
c.740_758delinsTGGAAGAAGAAGAAGAAGA (p.Met247=)
c.782_800delinsTGGAAGAAGAAGAAGAAGA (p.Met261=)
c.878_896delinsTGGAAGAAGAAGAAGAAGA (p.Met293=)
c.1391_1409delinsTGGAAGAAGAAGAAGAAGA (p.Met464=)
c.1109_1127delinsTGGAAGAAGAAGAAGAAGA (p.Met370=)
c.1250_1268delinsTGGAAGAAGAAGAAGAAGA (p.Met417=)
c.*877_*895delinsTGGAAGAAGAAGAAGAAGA (n.*877_*895delinsTGGAAGAAGAAGAAGAAGA)
c.1193_1211delinsTGGAAGAAGAAGAAGAAGA (p.Met398=)
c.*809_*827delinsTGGAAGAAGAAGAAGAAGA (n.*809_*827delinsTGGAAGAAGAAGAAGAAGA)
c.2106+177247_2106+177265delinsTGGAAGAAGAAGAAGAAGA (n.2106+177247_2106+177265delinsTGGAAGAAGAAGAAGAAGA)
3g.184321955G>ACA355389595EIF2B5,EIF4G1c.1371G>A (p.Met457Ile)
c.1305G>A (p.Met435Ile)
c.741G>A (p.Met247Ile)
c.783G>A (p.Met261Ile)
c.879G>A (p.Met293Ile)
c.1392G>A (p.Met464Ile)
c.1110G>A (p.Met370Ile)
c.1251G>A (p.Met417Ile)
c.*878G>A (n.*878G>A)
c.1194G>A (p.Met398Ile)
c.*810G>A (n.*810G>A)
c.2106+177248G>A (n.2106+177248G>A)
3g.184321955G>CCA355389592EIF2B5,EIF4G1c.1371G>C (p.Met457Ile)
c.1305G>C (p.Met435Ile)
c.741G>C (p.Met247Ile)
c.783G>C (p.Met261Ile)
c.879G>C (p.Met293Ile)
c.1392G>C (p.Met464Ile)
c.1110G>C (p.Met370Ile)
c.1251G>C (p.Met417Ile)
c.*878G>C (n.*878G>C)
c.1194G>C (p.Met398Ile)
c.*810G>C (n.*810G>C)
c.2106+177248G>C (n.2106+177248G>C)
3g.184321955G>TCA355389589EIF2B5,EIF4G1c.1371G>T (p.Met457Ile)
c.1305G>T (p.Met435Ile)
c.741G>T (p.Met247Ile)
c.783G>T (p.Met261Ile)
c.879G>T (p.Met293Ile)
c.1392G>T (p.Met464Ile)
c.1110G>T (p.Met370Ile)
c.1251G>T (p.Met417Ile)
c.*878G>T (n.*878G>T)
c.1194G>T (p.Met398Ile)
c.*810G>T (n.*810G>T)
c.2106+177248G>T (n.2106+177248G>T)
3g.184321955_184321964delinsGGAAGAAGAACA1425952963EIF2B5,EIF4G1c.1371_1380delinsGGAAGAAGAA (p.Met457=)
c.1305_1314delinsGGAAGAAGAA (p.Met435=)
c.741_750delinsGGAAGAAGAA (p.Met247=)
c.783_792delinsGGAAGAAGAA (p.Met261=)
c.879_888delinsGGAAGAAGAA (p.Met293=)
c.1392_1401delinsGGAAGAAGAA (p.Met464=)
c.1110_1119delinsGGAAGAAGAA (p.Met370=)
c.1251_1260delinsGGAAGAAGAA (p.Met417=)
c.*878_*887delinsGGAAGAAGAA (n.*878_*887delinsGGAAGAAGAA)
c.1194_1203delinsGGAAGAAGAA (p.Met398=)
c.*810_*819delinsGGAAGAAGAA (n.*810_*819delinsGGAAGAAGAA)
c.2106+177248_2106+177257delinsGGAAGAAGAA (n.2106+177248_2106+177257delinsGGAAGAAGAA)
3g.184321963_184321980delCA2732168EIF2B5,EIF4G1c.1379_1396del (p.Glu460_Glu465del)
c.1313_1330del (p.Glu438_Glu443del)
c.749_766del (p.Glu250_Glu255del)
c.791_808del (p.Glu264_Glu269del)
c.887_904del (p.Glu296_Glu301del)
c.1400_1417del (p.Glu467_Glu472del)
c.1118_1135del (p.Glu373_Glu378del)
c.1259_1276del (p.Glu420_Glu425del)
c.*886_*903del (n.*886_*903del)
c.1202_1219del (p.Glu401_Glu406del)
c.*818_*835del (n.*818_*835del)
c.2106+177256_2106+177273del (n.2106+177256_2106+177273del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184321956G>ACA355389620EIF2B5,EIF4G1c.1372G>A (p.Glu458Lys)
c.1306G>A (p.Glu436Lys)
c.742G>A (p.Glu248Lys)
c.784G>A (p.Glu262Lys)
c.880G>A (p.Glu294Lys)
c.1393G>A (p.Glu465Lys)
c.1111G>A (p.Glu371Lys)
c.1252G>A (p.Glu418Lys)
c.*879G>A (n.*879G>A)
c.1195G>A (p.Glu399Lys)
c.*811G>A (n.*811G>A)
c.2106+177249G>A (n.2106+177249G>A)
 gnomAD v4
3g.184321956G>CCA355389617EIF2B5,EIF4G1c.1372G>C (p.Glu458Gln)
c.1306G>C (p.Glu436Gln)
c.742G>C (p.Glu248Gln)
c.784G>C (p.Glu262Gln)
c.880G>C (p.Glu294Gln)
c.1393G>C (p.Glu465Gln)
c.1111G>C (p.Glu371Gln)
c.1252G>C (p.Glu418Gln)
c.*879G>C (n.*879G>C)
c.1195G>C (p.Glu399Gln)
c.*811G>C (n.*811G>C)
c.2106+177249G>C (n.2106+177249G>C)
3g.184321956G>TCA355389615EIF2B5,EIF4G1c.1372G>T (p.Glu458Ter)
c.1306G>T (p.Glu436Ter)
c.742G>T (p.Glu248Ter)
c.784G>T (p.Glu262Ter)
c.880G>T (p.Glu294Ter)
c.1393G>T (p.Glu465Ter)
c.1111G>T (p.Glu371Ter)
c.1252G>T (p.Glu418Ter)
c.*879G>T (n.*879G>T)
c.1195G>T (p.Glu399Ter)
c.*811G>T (n.*811G>T)
c.2106+177249G>T (n.2106+177249G>T)
3g.184321970_184321972dupCA2732171EIF2B5,EIF4G1c.1386_1388dup (p.Glu463_Glu464insGlu)
c.1320_1322dup (p.Glu441_Glu442insGlu)
c.756_758dup (p.Glu253_Glu254insGlu)
c.798_800dup (p.Glu267_Glu268insGlu)
c.894_896dup (p.Glu299_Glu300insGlu)
c.1407_1409dup (p.Glu470_Glu471insGlu)
c.1125_1127dup (p.Glu376_Glu377insGlu)
c.1266_1268dup (p.Glu423_Glu424insGlu)
c.*893_*895dup (n.*893_*895dup)
c.1209_1211dup (p.Glu404_Glu405insGlu)
c.*825_*827dup (n.*825_*827dup)
c.2106+177263_2106+177265dup (n.2106+177263_2106+177265dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184321967_184321972dupCA2732172EIF2B5,EIF4G1c.1383_1388dup (p.Glu463_Glu464insGluGlu)
c.1317_1322dup (p.Glu441_Glu442insGluGlu)
c.753_758dup (p.Glu253_Glu254insGluGlu)
c.795_800dup (p.Glu267_Glu268insGluGlu)
c.891_896dup (p.Glu299_Glu300insGluGlu)
c.1404_1409dup (p.Glu470_Glu471insGluGlu)
c.1122_1127dup (p.Glu376_Glu377insGluGlu)
c.1263_1268dup (p.Glu423_Glu424insGluGlu)
c.*890_*895dup (n.*890_*895dup)
c.1206_1211dup (p.Glu404_Glu405insGluGlu)
c.*822_*827dup (n.*822_*827dup)
c.2106+177260_2106+177265dup (n.2106+177260_2106+177265dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184321970_184321972delCA2732169EIF2B5,EIF4G1c.1386_1388del (p.Glu463del)
c.1320_1322del (p.Glu441del)
c.756_758del (p.Glu253del)
c.798_800del (p.Glu267del)
c.894_896del (p.Glu299del)
c.1407_1409del (p.Glu470del)
c.1125_1127del (p.Glu376del)
c.1266_1268del (p.Glu423del)
c.*893_*895del (n.*893_*895del)
c.1209_1211del (p.Glu404del)
c.*825_*827del (n.*825_*827del)
c.2106+177263_2106+177265del (n.2106+177263_2106+177265del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184321967_184321972delCA2732170EIF2B5,EIF4G1c.1383_1388del (p.Glu462_Glu463del)
c.1317_1322del (p.Glu440_Glu441del)
c.753_758del (p.Glu252_Glu253del)
c.795_800del (p.Glu266_Glu267del)
c.891_896del (p.Glu298_Glu299del)
c.1404_1409del (p.Glu469_Glu470del)
c.1122_1127del (p.Glu375_Glu376del)
c.1263_1268del (p.Glu422_Glu423del)
c.*890_*895del (n.*890_*895del)
c.1206_1211del (p.Glu403_Glu404del)
c.*822_*827del (n.*822_*827del)
c.2106+177260_2106+177265del (n.2106+177260_2106+177265del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184321964_184321972delCA548795498EIF2B5,EIF4G1c.1380_1388del (p.Glu461_Glu463del)
c.1314_1322del (p.Glu439_Glu441del)
c.750_758del (p.Glu251_Glu253del)
c.792_800del (p.Glu265_Glu267del)
c.888_896del (p.Glu297_Glu299del)
c.1401_1409del (p.Glu468_Glu470del)
c.1119_1127del (p.Glu374_Glu376del)
c.1260_1268del (p.Glu421_Glu423del)
c.*887_*895del (n.*887_*895del)
c.1203_1211del (p.Glu402_Glu404del)
c.*819_*827del (n.*819_*827del)
c.2106+177257_2106+177265del (n.2106+177257_2106+177265del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184321961_184321972delCA2668830434EIF2B5,EIF4G1c.1377_1388del (p.Glu460_Glu463del)
c.1311_1322del (p.Glu438_Glu441del)
c.747_758del (p.Glu250_Glu253del)
c.789_800del (p.Glu264_Glu267del)
c.885_896del (p.Glu296_Glu299del)
c.1398_1409del (p.Glu467_Glu470del)
c.1116_1127del (p.Glu373_Glu376del)
c.1257_1268del (p.Glu420_Glu423del)
c.*884_*895del (n.*884_*895del)
c.1200_1211del (p.Glu401_Glu404del)
c.*816_*827del (n.*816_*827del)
c.2106+177254_2106+177265del (n.2106+177254_2106+177265del)
 gnomAD v4
3g.184321958_184321972delCA2668830435EIF2B5,EIF4G1c.1374_1388del (p.Glu459_Glu463del)
c.1308_1322del (p.Glu437_Glu441del)
c.744_758del (p.Glu249_Glu253del)
c.786_800del (p.Glu263_Glu267del)
c.882_896del (p.Glu295_Glu299del)
c.1395_1409del (p.Glu466_Glu470del)
c.1113_1127del (p.Glu372_Glu376del)
c.1254_1268del (p.Glu419_Glu423del)
c.*881_*895del (n.*881_*895del)
c.1197_1211del (p.Glu400_Glu404del)
c.*813_*827del (n.*813_*827del)
c.2106+177251_2106+177265del (n.2106+177251_2106+177265del)
 gnomAD v4
3g.184321957A=CA1425952978EIF2B5,EIF4G1c.1373A= (p.Glu458=)
c.1307A= (p.Glu436=)
c.743A= (p.Glu248=)
c.785A= (p.Glu262=)
c.881A= (p.Glu294=)
c.1394A= (p.Glu465=)
c.1112A= (p.Glu371=)
c.1253A= (p.Glu418=)
c.*880A= (n.*880A=)
c.1196A= (p.Glu399=)
c.*812A= (n.*812A=)
c.2106+177250A= (n.2106+177250A=)
3g.184321957A>CCA355389628EIF2B5,EIF4G1c.1373A>C (p.Glu458Ala)
c.1307A>C (p.Glu436Ala)
c.743A>C (p.Glu248Ala)
c.785A>C (p.Glu262Ala)
c.881A>C (p.Glu294Ala)
c.1394A>C (p.Glu465Ala)
c.1112A>C (p.Glu371Ala)
c.1253A>C (p.Glu418Ala)
c.*880A>C (n.*880A>C)
c.1196A>C (p.Glu399Ala)
c.*812A>C (n.*812A>C)
c.2106+177250A>C (n.2106+177250A>C)
 dbSNP gnomAD v2 gnomAD v4
3g.184321957A>GCA355389630EIF2B5,EIF4G1c.1373A>G (p.Glu458Gly)
c.1307A>G (p.Glu436Gly)
c.743A>G (p.Glu248Gly)
c.785A>G (p.Glu262Gly)
c.881A>G (p.Glu294Gly)
c.1394A>G (p.Glu465Gly)
c.1112A>G (p.Glu371Gly)
c.1253A>G (p.Glu418Gly)
c.*880A>G (n.*880A>G)
c.1196A>G (p.Glu399Gly)
c.*812A>G (n.*812A>G)
c.2106+177250A>G (n.2106+177250A>G)
3g.184321957A>TCA355389633EIF2B5,EIF4G1c.1373A>T (p.Glu458Val)
c.1307A>T (p.Glu436Val)
c.743A>T (p.Glu248Val)
c.785A>T (p.Glu262Val)
c.881A>T (p.Glu294Val)
c.1394A>T (p.Glu465Val)
c.1112A>T (p.Glu371Val)
c.1253A>T (p.Glu418Val)
c.*880A>T (n.*880A>T)
c.1196A>T (p.Glu399Val)
c.*812A>T (n.*812A>T)
c.2106+177250A>T (n.2106+177250A>T)
3g.184321958A=CA1425952982EIF2B5,EIF4G1c.1374A= (p.Glu458=)
c.1308A= (p.Glu436=)
c.744A= (p.Glu248=)
c.786A= (p.Glu262=)
c.882A= (p.Glu294=)
c.1395A= (p.Glu465=)
c.1113A= (p.Glu371=)
c.1254A= (p.Glu418=)
c.*881A= (n.*881A=)
c.1197A= (p.Glu399=)
c.*813A= (n.*813A=)
c.2106+177251A= (n.2106+177251A=)
3g.184321958A>CCA355389637EIF2B5,EIF4G1c.1374A>C (p.Glu458Asp)
c.1308A>C (p.Glu436Asp)
c.744A>C (p.Glu248Asp)
c.786A>C (p.Glu262Asp)
c.882A>C (p.Glu294Asp)
c.1395A>C (p.Glu465Asp)
c.1113A>C (p.Glu371Asp)
c.1254A>C (p.Glu418Asp)
c.*881A>C (n.*881A>C)
c.1197A>C (p.Glu399Asp)
c.*813A>C (n.*813A>C)
c.2106+177251A>C (n.2106+177251A>C)
3g.184321958A>GCA437329580EIF2B5,EIF4G1c.1374A>G (p.Glu458=)
c.1308A>G (p.Glu436=)
c.744A>G (p.Glu248=)
c.786A>G (p.Glu262=)
c.882A>G (p.Glu294=)
c.1395A>G (p.Glu465=)
c.1113A>G (p.Glu371=)
c.1254A>G (p.Glu418=)
c.*881A>G (n.*881A>G)
c.1197A>G (p.Glu399=)
c.*813A>G (n.*813A>G)
c.2106+177251A>G (n.2106+177251A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.184321958A>TCA355389638EIF2B5,EIF4G1c.1374A>T (p.Glu458Asp)
c.1308A>T (p.Glu436Asp)
c.744A>T (p.Glu248Asp)
c.786A>T (p.Glu262Asp)
c.882A>T (p.Glu294Asp)
c.1395A>T (p.Glu465Asp)
c.1113A>T (p.Glu371Asp)
c.1254A>T (p.Glu418Asp)
c.*881A>T (n.*881A>T)
c.1197A>T (p.Glu399Asp)
c.*813A>T (n.*813A>T)
c.2106+177251A>T (n.2106+177251A>T)
3g.184321958_184321973delinsAGAAGAAGAAGAAGAGCA1425952981EIF2B5,EIF4G1c.1374_1389delinsAGAAGAAGAAGAAGAG (p.Glu458=)
c.1308_1323delinsAGAAGAAGAAGAAGAG (p.Glu436=)
c.744_759delinsAGAAGAAGAAGAAGAG (p.Glu248=)
c.786_801delinsAGAAGAAGAAGAAGAG (p.Glu262=)
c.882_897delinsAGAAGAAGAAGAAGAG (p.Glu294=)
c.1395_1410delinsAGAAGAAGAAGAAGAG (p.Glu465=)
c.1113_1128delinsAGAAGAAGAAGAAGAG (p.Glu371=)
c.1254_1269delinsAGAAGAAGAAGAAGAG (p.Glu418=)
c.*881_*896delinsAGAAGAAGAAGAAGAG (n.*881_*896delinsAGAAGAAGAAGAAGAG)
c.1197_1212delinsAGAAGAAGAAGAAGAG (p.Glu399=)
c.*813_*828delinsAGAAGAAGAAGAAGAG (n.*813_*828delinsAGAAGAAGAAGAAGAG)
c.2106+177251_2106+177266delinsAGAAGAAGAAGAAGAG (n.2106+177251_2106+177266delinsAGAAGAAGAAGAAGAG)
3g.184321959G>ACA355389654EIF2B5,EIF4G1c.1375G>A (p.Glu459Lys)
c.1309G>A (p.Glu437Lys)
c.745G>A (p.Glu249Lys)
c.787G>A (p.Glu263Lys)
c.883G>A (p.Glu295Lys)
c.1396G>A (p.Glu466Lys)
c.1114G>A (p.Glu372Lys)
c.1255G>A (p.Glu419Lys)
c.*882G>A (n.*882G>A)
c.1198G>A (p.Glu400Lys)
c.*814G>A (n.*814G>A)
c.2106+177252G>A (n.2106+177252G>A)
3g.184321959G>CCA355389643EIF2B5,EIF4G1c.1375G>C (p.Glu459Gln)
c.1309G>C (p.Glu437Gln)
c.745G>C (p.Glu249Gln)
c.787G>C (p.Glu263Gln)
c.883G>C (p.Glu295Gln)
c.1396G>C (p.Glu466Gln)
c.1114G>C (p.Glu372Gln)
c.1255G>C (p.Glu419Gln)
c.*882G>C (n.*882G>C)
c.1198G>C (p.Glu400Gln)
c.*814G>C (n.*814G>C)
c.2106+177252G>C (n.2106+177252G>C)
3g.184321959G>TCA355389651EIF2B5,EIF4G1c.1375G>T (p.Glu459Ter)
c.1309G>T (p.Glu437Ter)
c.745G>T (p.Glu249Ter)
c.787G>T (p.Glu263Ter)
c.883G>T (p.Glu295Ter)
c.1396G>T (p.Glu466Ter)
c.1114G>T (p.Glu372Ter)
c.1255G>T (p.Glu419Ter)
c.*882G>T (n.*882G>T)
c.1198G>T (p.Glu400Ter)
c.*814G>T (n.*814G>T)
c.2106+177252G>T (n.2106+177252G>T)
3g.184321966_184321980delCA2732173EIF2B5,EIF4G1c.1382_1396del (p.Glu461_Glu465del)
c.1316_1330del (p.Glu439_Glu443del)
c.752_766del (p.Glu251_Glu255del)
c.794_808del (p.Glu265_Glu269del)
c.890_904del (p.Glu297_Glu301del)
c.1403_1417del (p.Glu468_Glu472del)
c.1121_1135del (p.Glu374_Glu378del)
c.1262_1276del (p.Glu421_Glu425del)
c.*889_*903del (n.*889_*903del)
c.1205_1219del (p.Glu402_Glu406del)
c.*821_*835del (n.*821_*835del)
c.2106+177259_2106+177273del (n.2106+177259_2106+177273del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184321960A=CA1425952986EIF2B5,EIF4G1c.1376A= (p.Glu459=)
c.1310A= (p.Glu437=)
c.746A= (p.Glu249=)
c.788A= (p.Glu263=)
c.884A= (p.Glu295=)
c.1397A= (p.Glu466=)
c.1115A= (p.Glu372=)
c.1256A= (p.Glu419=)
c.*883A= (n.*883A=)
c.1199A= (p.Glu400=)
c.*815A= (n.*815A=)
c.2106+177253A= (n.2106+177253A=)
3g.184321960A>CCA88863390EIF2B5,EIF4G1c.1376A>C (p.Glu459Ala)
c.1310A>C (p.Glu437Ala)
c.746A>C (p.Glu249Ala)
c.788A>C (p.Glu263Ala)
c.884A>C (p.Glu295Ala)
c.1397A>C (p.Glu466Ala)
c.1115A>C (p.Glu372Ala)
c.1256A>C (p.Glu419Ala)
c.*883A>C (n.*883A>C)
c.1199A>C (p.Glu400Ala)
c.*815A>C (n.*815A>C)
c.2106+177253A>C (n.2106+177253A>C)
 dbSNP gnomAD v4
3g.184321960A>GCA355389662EIF2B5,EIF4G1c.1376A>G (p.Glu459Gly)
c.1310A>G (p.Glu437Gly)
c.746A>G (p.Glu249Gly)
c.788A>G (p.Glu263Gly)
c.884A>G (p.Glu295Gly)
c.1397A>G (p.Glu466Gly)
c.1115A>G (p.Glu372Gly)
c.1256A>G (p.Glu419Gly)
c.*883A>G (n.*883A>G)
c.1199A>G (p.Glu400Gly)
c.*815A>G (n.*815A>G)
c.2106+177253A>G (n.2106+177253A>G)
3g.184321960A>TCA355389665EIF2B5,EIF4G1c.1376A>T (p.Glu459Val)
c.1310A>T (p.Glu437Val)
c.746A>T (p.Glu249Val)
c.788A>T (p.Glu263Val)
c.884A>T (p.Glu295Val)
c.1397A>T (p.Glu466Val)
c.1115A>T (p.Glu372Val)
c.1256A>T (p.Glu419Val)
c.*883A>T (n.*883A>T)
c.1199A>T (p.Glu400Val)
c.*815A>T (n.*815A>T)
c.2106+177253A>T (n.2106+177253A>T)
3g.184321961A>CCA355389676EIF2B5,EIF4G1c.1377A>C (p.Glu459Asp)
c.1311A>C (p.Glu437Asp)
c.747A>C (p.Glu249Asp)
c.789A>C (p.Glu263Asp)
c.885A>C (p.Glu295Asp)
c.1398A>C (p.Glu466Asp)
c.1116A>C (p.Glu372Asp)
c.1257A>C (p.Glu419Asp)
c.*884A>C (n.*884A>C)
c.1200A>C (p.Glu400Asp)
c.*816A>C (n.*816A>C)
c.2106+177254A>C (n.2106+177254A>C)
3g.184321961A>GCA437329585EIF2B5,EIF4G1c.1377A>G (p.Glu459=)
c.1311A>G (p.Glu437=)
c.747A>G (p.Glu249=)
c.789A>G (p.Glu263=)
c.885A>G (p.Glu295=)
c.1398A>G (p.Glu466=)
c.1116A>G (p.Glu372=)
c.1257A>G (p.Glu419=)
c.*884A>G (n.*884A>G)
c.1200A>G (p.Glu400=)
c.*816A>G (n.*816A>G)
c.2106+177254A>G (n.2106+177254A>G)
3g.184321961A>TCA355389679EIF2B5,EIF4G1c.1377A>T (p.Glu459Asp)
c.1311A>T (p.Glu437Asp)
c.747A>T (p.Glu249Asp)
c.789A>T (p.Glu263Asp)
c.885A>T (p.Glu295Asp)
c.1398A>T (p.Glu466Asp)
c.1116A>T (p.Glu372Asp)
c.1257A>T (p.Glu419Asp)
c.*884A>T (n.*884A>T)
c.1200A>T (p.Glu400Asp)
c.*816A>T (n.*816A>T)
c.2106+177254A>T (n.2106+177254A>T)
3g.184321961_184321973delinsAGAAGAAGAAGAGCA1425952989EIF2B5,EIF4G1c.1377_1389delinsAGAAGAAGAAGAG (p.Glu459=)
c.1311_1323delinsAGAAGAAGAAGAG (p.Glu437=)
c.747_759delinsAGAAGAAGAAGAG (p.Glu249=)
c.789_801delinsAGAAGAAGAAGAG (p.Glu263=)
c.885_897delinsAGAAGAAGAAGAG (p.Glu295=)
c.1398_1410delinsAGAAGAAGAAGAG (p.Glu466=)
c.1116_1128delinsAGAAGAAGAAGAG (p.Glu372=)
c.1257_1269delinsAGAAGAAGAAGAG (p.Glu419=)
c.*884_*896delinsAGAAGAAGAAGAG (n.*884_*896delinsAGAAGAAGAAGAG)
c.1200_1212delinsAGAAGAAGAAGAG (p.Glu400=)
c.*816_*828delinsAGAAGAAGAAGAG (n.*816_*828delinsAGAAGAAGAAGAG)
c.2106+177254_2106+177266delinsAGAAGAAGAAGAG (n.2106+177254_2106+177266delinsAGAAGAAGAAGAG)
3g.184321962G>ACA355389686EIF2B5,EIF4G1c.1378G>A (p.Glu460Lys)
c.1312G>A (p.Glu438Lys)
c.748G>A (p.Glu250Lys)
c.790G>A (p.Glu264Lys)
c.886G>A (p.Glu296Lys)
c.1399G>A (p.Glu467Lys)
c.1117G>A (p.Glu373Lys)
c.1258G>A (p.Glu420Lys)
c.*885G>A (n.*885G>A)
c.1201G>A (p.Glu401Lys)
c.*817G>A (n.*817G>A)
c.2106+177255G>A (n.2106+177255G>A)
 gnomAD v4
3g.184321962G>CCA355389688EIF2B5,EIF4G1c.1378G>C (p.Glu460Gln)
c.1312G>C (p.Glu438Gln)
c.748G>C (p.Glu250Gln)
c.790G>C (p.Glu264Gln)
c.886G>C (p.Glu296Gln)
c.1399G>C (p.Glu467Gln)
c.1117G>C (p.Glu373Gln)
c.1258G>C (p.Glu420Gln)
c.*885G>C (n.*885G>C)
c.1201G>C (p.Glu401Gln)
c.*817G>C (n.*817G>C)
c.2106+177255G>C (n.2106+177255G>C)
3g.184321962G>TCA355389693EIF2B5,EIF4G1c.1378G>T (p.Glu460Ter)
c.1312G>T (p.Glu438Ter)
c.748G>T (p.Glu250Ter)
c.790G>T (p.Glu264Ter)
c.886G>T (p.Glu296Ter)
c.1399G>T (p.Glu467Ter)
c.1117G>T (p.Glu373Ter)
c.1258G>T (p.Glu420Ter)
c.*885G>T (n.*885G>T)
c.1201G>T (p.Glu401Ter)
c.*817G>T (n.*817G>T)
c.2106+177255G>T (n.2106+177255G>T)
3g.184321969_184321980delCA2732174EIF2B5,EIF4G1c.1385_1396del (p.Glu462_Glu465del)
c.1319_1330del (p.Glu440_Glu443del)
c.755_766del (p.Glu252_Glu255del)
c.797_808del (p.Glu266_Glu269del)
c.893_904del (p.Glu298_Glu301del)
c.1406_1417del (p.Glu469_Glu472del)
c.1124_1135del (p.Glu375_Glu378del)
c.1265_1276del (p.Glu422_Glu425del)
c.*892_*903del (n.*892_*903del)
c.1208_1219del (p.Glu403_Glu406del)
c.*824_*835del (n.*824_*835del)
c.2106+177262_2106+177273del (n.2106+177262_2106+177273del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184321963A=CA1425952992EIF2B5,EIF4G1c.1379A= (p.Glu460=)
c.1313A= (p.Glu438=)
c.749A= (p.Glu250=)
c.791A= (p.Glu264=)
c.887A= (p.Glu296=)
c.1400A= (p.Glu467=)
c.1118A= (p.Glu373=)
c.1259A= (p.Glu420=)
c.*886A= (n.*886A=)
c.1202A= (p.Glu401=)
c.*818A= (n.*818A=)
c.2106+177256A= (n.2106+177256A=)
3g.184321963A>CCA355389699EIF2B5,EIF4G1c.1379A>C (p.Glu460Ala)
c.1313A>C (p.Glu438Ala)
c.749A>C (p.Glu250Ala)
c.791A>C (p.Glu264Ala)
c.887A>C (p.Glu296Ala)
c.1400A>C (p.Glu467Ala)
c.1118A>C (p.Glu373Ala)
c.1259A>C (p.Glu420Ala)
c.*886A>C (n.*886A>C)
c.1202A>C (p.Glu401Ala)
c.*818A>C (n.*818A>C)
c.2106+177256A>C (n.2106+177256A>C)
3g.184321963A>GCA355389703EIF2B5,EIF4G1c.1379A>G (p.Glu460Gly)
c.1313A>G (p.Glu438Gly)
c.749A>G (p.Glu250Gly)
c.791A>G (p.Glu264Gly)
c.887A>G (p.Glu296Gly)
c.1400A>G (p.Glu467Gly)
c.1118A>G (p.Glu373Gly)
c.1259A>G (p.Glu420Gly)
c.*886A>G (n.*886A>G)
c.1202A>G (p.Glu401Gly)
c.*818A>G (n.*818A>G)
c.2106+177256A>G (n.2106+177256A>G)
 dbSNP
3g.184321963A>TCA355389707EIF2B5,EIF4G1c.1379A>T (p.Glu460Val)
c.1313A>T (p.Glu438Val)
c.749A>T (p.Glu250Val)
c.791A>T (p.Glu264Val)
c.887A>T (p.Glu296Val)
c.1400A>T (p.Glu467Val)
c.1118A>T (p.Glu373Val)
c.1259A>T (p.Glu420Val)
c.*886A>T (n.*886A>T)
c.1202A>T (p.Glu401Val)
c.*818A>T (n.*818A>T)
c.2106+177256A>T (n.2106+177256A>T)
3g.184321964A>CCA355389711EIF2B5,EIF4G1c.1380A>C (p.Glu460Asp)
c.1314A>C (p.Glu438Asp)
c.750A>C (p.Glu250Asp)
c.792A>C (p.Glu264Asp)
c.888A>C (p.Glu296Asp)
c.1401A>C (p.Glu467Asp)
c.1119A>C (p.Glu373Asp)
c.1260A>C (p.Glu420Asp)
c.*887A>C (n.*887A>C)
c.1203A>C (p.Glu401Asp)
c.*819A>C (n.*819A>C)
c.2106+177257A>C (n.2106+177257A>C)
3g.184321964A>GCA437329587EIF2B5,EIF4G1c.1380A>G (p.Glu460=)
c.1314A>G (p.Glu438=)
c.750A>G (p.Glu250=)
c.792A>G (p.Glu264=)
c.888A>G (p.Glu296=)
c.1401A>G (p.Glu467=)
c.1119A>G (p.Glu373=)
c.1260A>G (p.Glu420=)
c.*887A>G (n.*887A>G)
c.1203A>G (p.Glu401=)
c.*819A>G (n.*819A>G)
c.2106+177257A>G (n.2106+177257A>G)
 gnomAD v4
3g.184321964A>TCA355389713EIF2B5,EIF4G1c.1380A>T (p.Glu460Asp)
c.1314A>T (p.Glu438Asp)
c.750A>T (p.Glu250Asp)
c.792A>T (p.Glu264Asp)
c.888A>T (p.Glu296Asp)
c.1401A>T (p.Glu467Asp)
c.1119A>T (p.Glu373Asp)
c.1260A>T (p.Glu420Asp)
c.*887A>T (n.*887A>T)
c.1203A>T (p.Glu401Asp)
c.*819A>T (n.*819A>T)
c.2106+177257A>T (n.2106+177257A>T)
3g.184321964_184321973delinsAGAAGAAGAGCA1425952996EIF2B5,EIF4G1c.1380_1389delinsAGAAGAAGAG (p.Glu460=)
c.1314_1323delinsAGAAGAAGAG (p.Glu438=)
c.750_759delinsAGAAGAAGAG (p.Glu250=)
c.792_801delinsAGAAGAAGAG (p.Glu264=)
c.888_897delinsAGAAGAAGAG (p.Glu296=)
c.1401_1410delinsAGAAGAAGAG (p.Glu467=)
c.1119_1128delinsAGAAGAAGAG (p.Glu373=)
c.1260_1269delinsAGAAGAAGAG (p.Glu420=)
c.*887_*896delinsAGAAGAAGAG (n.*887_*896delinsAGAAGAAGAG)
c.1203_1212delinsAGAAGAAGAG (p.Glu401=)
c.*819_*828delinsAGAAGAAGAG (n.*819_*828delinsAGAAGAAGAG)
c.2106+177257_2106+177266delinsAGAAGAAGAG (n.2106+177257_2106+177266delinsAGAAGAAGAG)
3g.184321965G>ACA355389717EIF2B5,EIF4G1c.1381G>A (p.Glu461Lys)
c.1315G>A (p.Glu439Lys)
c.751G>A (p.Glu251Lys)
c.793G>A (p.Glu265Lys)
c.889G>A (p.Glu297Lys)
c.1402G>A (p.Glu468Lys)
c.1120G>A (p.Glu374Lys)
c.1261G>A (p.Glu421Lys)
c.*888G>A (n.*888G>A)
c.1204G>A (p.Glu402Lys)
c.*820G>A (n.*820G>A)
c.2106+177258G>A (n.2106+177258G>A)
 dbSNP
3g.184321965G>CCA355389722EIF2B5,EIF4G1c.1381G>C (p.Glu461Gln)
c.1315G>C (p.Glu439Gln)
c.751G>C (p.Glu251Gln)
c.793G>C (p.Glu265Gln)
c.889G>C (p.Glu297Gln)
c.1402G>C (p.Glu468Gln)
c.1120G>C (p.Glu374Gln)
c.1261G>C (p.Glu421Gln)
c.*888G>C (n.*888G>C)
c.1204G>C (p.Glu402Gln)
c.*820G>C (n.*820G>C)
c.2106+177258G>C (n.2106+177258G>C)
3g.184321965G=CA1425952999EIF2B5,EIF4G1c.1381G= (p.Glu461=)
c.1315G= (p.Glu439=)
c.751G= (p.Glu251=)
c.793G= (p.Glu265=)
c.889G= (p.Glu297=)
c.1402G= (p.Glu468=)
c.1120G= (p.Glu374=)
c.1261G= (p.Glu421=)
c.*888G= (n.*888G=)
c.1204G= (p.Glu402=)
c.*820G= (n.*820G=)
c.2106+177258G= (n.2106+177258G=)
3g.184321965G>TCA355389719EIF2B5,EIF4G1c.1381G>T (p.Glu461Ter)
c.1315G>T (p.Glu439Ter)
c.751G>T (p.Glu251Ter)
c.793G>T (p.Glu265Ter)
c.889G>T (p.Glu297Ter)
c.1402G>T (p.Glu468Ter)
c.1120G>T (p.Glu374Ter)
c.1261G>T (p.Glu421Ter)
c.*888G>T (n.*888G>T)
c.1204G>T (p.Glu402Ter)
c.*820G>T (n.*820G>T)
c.2106+177258G>T (n.2106+177258G>T)
3g.184321972_184321980delCA548795499EIF2B5,EIF4G1c.1388_1396del (p.Glu463_Glu465del)
c.1322_1330del (p.Glu441_Glu443del)
c.758_766del (p.Glu253_Glu255del)
c.800_808del (p.Glu267_Glu269del)
c.896_904del (p.Glu299_Glu301del)
c.1409_1417del (p.Glu470_Glu472del)
c.1127_1135del (p.Glu376_Glu378del)
c.1268_1276del (p.Glu423_Glu425del)
c.*895_*903del (n.*895_*903del)
c.1211_1219del (p.Glu404_Glu406del)
c.*827_*835del (n.*827_*835del)
c.2106+177265_2106+177273del (n.2106+177265_2106+177273del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184321966A>CCA355389730EIF2B5,EIF4G1c.1382A>C (p.Glu461Ala)
c.1316A>C (p.Glu439Ala)
c.752A>C (p.Glu251Ala)
c.794A>C (p.Glu265Ala)
c.890A>C (p.Glu297Ala)
c.1403A>C (p.Glu468Ala)
c.1121A>C (p.Glu374Ala)
c.1262A>C (p.Glu421Ala)
c.*889A>C (n.*889A>C)
c.1205A>C (p.Glu402Ala)
c.*821A>C (n.*821A>C)
c.2106+177259A>C (n.2106+177259A>C)
3g.184321966A>GCA355389736EIF2B5,EIF4G1c.1382A>G (p.Glu461Gly)
c.1316A>G (p.Glu439Gly)
c.752A>G (p.Glu251Gly)
c.794A>G (p.Glu265Gly)
c.890A>G (p.Glu297Gly)
c.1403A>G (p.Glu468Gly)
c.1121A>G (p.Glu374Gly)
c.1262A>G (p.Glu421Gly)
c.*889A>G (n.*889A>G)
c.1205A>G (p.Glu402Gly)
c.*821A>G (n.*821A>G)
c.2106+177259A>G (n.2106+177259A>G)
3g.184321966A>TCA355389733EIF2B5,EIF4G1c.1382A>T (p.Glu461Val)
c.1316A>T (p.Glu439Val)
c.752A>T (p.Glu251Val)
c.794A>T (p.Glu265Val)
c.890A>T (p.Glu297Val)
c.1403A>T (p.Glu468Val)
c.1121A>T (p.Glu374Val)
c.1262A>T (p.Glu421Val)
c.*889A>T (n.*889A>T)
c.1205A>T (p.Glu402Val)
c.*821A>T (n.*821A>T)
c.2106+177259A>T (n.2106+177259A>T)
3g.184321967A=CA1425953001EIF2B5,EIF4G1c.1383A= (p.Glu461=)
c.1317A= (p.Glu439=)
c.753A= (p.Glu251=)
c.795A= (p.Glu265=)
c.891A= (p.Glu297=)
c.1404A= (p.Glu468=)
c.1122A= (p.Glu374=)
c.1263A= (p.Glu421=)
c.*890A= (n.*890A=)
c.1206A= (p.Glu402=)
c.*822A= (n.*822A=)
c.2106+177260A= (n.2106+177260A=)
3g.184321967A>CCA355389739EIF2B5,EIF4G1c.1383A>C (p.Glu461Asp)
c.1317A>C (p.Glu439Asp)
c.753A>C (p.Glu251Asp)
c.795A>C (p.Glu265Asp)
c.891A>C (p.Glu297Asp)
c.1404A>C (p.Glu468Asp)
c.1122A>C (p.Glu374Asp)
c.1263A>C (p.Glu421Asp)
c.*890A>C (n.*890A>C)
c.1206A>C (p.Glu402Asp)
c.*822A>C (n.*822A>C)
c.2106+177260A>C (n.2106+177260A>C)
3g.184321967A>GCA2732175EIF2B5,EIF4G1c.1383A>G (p.Glu461=)
c.1317A>G (p.Glu439=)
c.753A>G (p.Glu251=)
c.795A>G (p.Glu265=)
c.891A>G (p.Glu297=)
c.1404A>G (p.Glu468=)
c.1122A>G (p.Glu374=)
c.1263A>G (p.Glu421=)
c.*890A>G (n.*890A>G)
c.1206A>G (p.Glu402=)
c.*822A>G (n.*822A>G)
c.2106+177260A>G (n.2106+177260A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184321967A>TCA355389753EIF2B5,EIF4G1c.1383A>T (p.Glu461Asp)
c.1317A>T (p.Glu439Asp)
c.753A>T (p.Glu251Asp)
c.795A>T (p.Glu265Asp)
c.891A>T (p.Glu297Asp)
c.1404A>T (p.Glu468Asp)
c.1122A>T (p.Glu374Asp)
c.1263A>T (p.Glu421Asp)
c.*890A>T (n.*890A>T)
c.1206A>T (p.Glu402Asp)
c.*822A>T (n.*822A>T)
c.2106+177260A>T (n.2106+177260A>T)
3g.184321968G>ACA355389756EIF2B5,EIF4G1c.1384G>A (p.Glu462Lys)
c.1318G>A (p.Glu440Lys)
c.754G>A (p.Glu252Lys)
c.796G>A (p.Glu266Lys)
c.892G>A (p.Glu298Lys)
c.1405G>A (p.Glu469Lys)
c.1123G>A (p.Glu375Lys)
c.1264G>A (p.Glu422Lys)
c.*891G>A (n.*891G>A)
c.1207G>A (p.Glu403Lys)
c.*823G>A (n.*823G>A)
c.2106+177261G>A (n.2106+177261G>A)
3g.184321968G>CCA355389759EIF2B5,EIF4G1c.1384G>C (p.Glu462Gln)
c.1318G>C (p.Glu440Gln)
c.754G>C (p.Glu252Gln)
c.796G>C (p.Glu266Gln)
c.892G>C (p.Glu298Gln)
c.1405G>C (p.Glu469Gln)
c.1123G>C (p.Glu375Gln)
c.1264G>C (p.Glu422Gln)
c.*891G>C (n.*891G>C)
c.1207G>C (p.Glu403Gln)
c.*823G>C (n.*823G>C)
c.2106+177261G>C (n.2106+177261G>C)
 gnomAD v4
3g.184321968G>TCA355389761EIF2B5,EIF4G1c.1384G>T (p.Glu462Ter)
c.1318G>T (p.Glu440Ter)
c.754G>T (p.Glu252Ter)
c.796G>T (p.Glu266Ter)
c.892G>T (p.Glu298Ter)
c.1405G>T (p.Glu469Ter)
c.1123G>T (p.Glu375Ter)
c.1264G>T (p.Glu422Ter)
c.*891G>T (n.*891G>T)
c.1207G>T (p.Glu403Ter)
c.*823G>T (n.*823G>T)
c.2106+177261G>T (n.2106+177261G>T)
3g.184321968_184321969insGAACA2586973289EIF2B5,EIF4G1c.1384_1385insGAA (p.Glu462delinsGlyLys)
c.1318_1319insGAA (p.Glu440delinsGlyLys)
c.754_755insGAA (p.Glu252delinsGlyLys)
c.796_797insGAA (p.Glu266delinsGlyLys)
c.892_893insGAA (p.Glu298delinsGlyLys)
c.1405_1406insGAA (p.Glu469delinsGlyLys)
c.1123_1124insGAA (p.Glu375delinsGlyLys)
c.1264_1265insGAA (p.Glu422delinsGlyLys)
c.*891_*892insGAA (n.*891_*892insGAA)
c.1207_1208insGAA (p.Glu403delinsGlyLys)
c.*823_*824insGAA (n.*823_*824insGAA)
c.2106+177261_2106+177262insGAA (n.2106+177261_2106+177262insGAA)
3g.184321969A=CA1425953003EIF2B5,EIF4G1c.1385A= (p.Glu462=)
c.1319A= (p.Glu440=)
c.755A= (p.Glu252=)
c.797A= (p.Glu266=)
c.893A= (p.Glu298=)
c.1406A= (p.Glu469=)
c.1124A= (p.Glu375=)
c.1265A= (p.Glu422=)
c.*892A= (n.*892A=)
c.1208A= (p.Glu403=)
c.*824A= (n.*824A=)
c.2106+177262A= (n.2106+177262A=)
3g.184321969A>CCA355389764EIF2B5,EIF4G1c.1385A>C (p.Glu462Ala)
c.1319A>C (p.Glu440Ala)
c.755A>C (p.Glu252Ala)
c.797A>C (p.Glu266Ala)
c.893A>C (p.Glu298Ala)
c.1406A>C (p.Glu469Ala)
c.1124A>C (p.Glu375Ala)
c.1265A>C (p.Glu422Ala)
c.*892A>C (n.*892A>C)
c.1208A>C (p.Glu403Ala)
c.*824A>C (n.*824A>C)
c.2106+177262A>C (n.2106+177262A>C)
3g.184321969A>GCA88863398EIF2B5,EIF4G1c.1385A>G (p.Glu462Gly)
c.1319A>G (p.Glu440Gly)
c.755A>G (p.Glu252Gly)
c.797A>G (p.Glu266Gly)
c.893A>G (p.Glu298Gly)
c.1406A>G (p.Glu469Gly)
c.1124A>G (p.Glu375Gly)
c.1265A>G (p.Glu422Gly)
c.*892A>G (n.*892A>G)
c.1208A>G (p.Glu403Gly)
c.*824A>G (n.*824A>G)
c.2106+177262A>G (n.2106+177262A>G)
 dbSNP
3g.184321969A>TCA355389771EIF2B5,EIF4G1c.1385A>T (p.Glu462Val)
c.1319A>T (p.Glu440Val)
c.755A>T (p.Glu252Val)
c.797A>T (p.Glu266Val)
c.893A>T (p.Glu298Val)
c.1406A>T (p.Glu469Val)
c.1124A>T (p.Glu375Val)
c.1265A>T (p.Glu422Val)
c.*892A>T (n.*892A>T)
c.1208A>T (p.Glu403Val)
c.*824A>T (n.*824A>T)
c.2106+177262A>T (n.2106+177262A>T)
3g.184321970A=CA1425953006EIF2B5,EIF4G1c.1386A= (p.Glu462=)
c.1320A= (p.Glu440=)
c.756A= (p.Glu252=)
c.798A= (p.Glu266=)
c.894A= (p.Glu298=)
c.1407A= (p.Glu469=)
c.1125A= (p.Glu375=)
c.1266A= (p.Glu422=)
c.*893A= (n.*893A=)
c.1209A= (p.Glu403=)
c.*825A= (n.*825A=)
c.2106+177263A= (n.2106+177263A=)
3g.184321970A>CCA355389775EIF2B5,EIF4G1c.1386A>C (p.Glu462Asp)
c.1320A>C (p.Glu440Asp)
c.756A>C (p.Glu252Asp)
c.798A>C (p.Glu266Asp)
c.894A>C (p.Glu298Asp)
c.1407A>C (p.Glu469Asp)
c.1125A>C (p.Glu375Asp)
c.1266A>C (p.Glu422Asp)
c.*893A>C (n.*893A>C)
c.1209A>C (p.Glu403Asp)
c.*825A>C (n.*825A>C)
c.2106+177263A>C (n.2106+177263A>C)
 gnomAD v4
3g.184321970A>GCA2732176EIF2B5,EIF4G1c.1386A>G (p.Glu462=)
c.1320A>G (p.Glu440=)
c.756A>G (p.Glu252=)
c.798A>G (p.Glu266=)
c.894A>G (p.Glu298=)
c.1407A>G (p.Glu469=)
c.1125A>G (p.Glu375=)
c.1266A>G (p.Glu422=)
c.*893A>G (n.*893A>G)
c.1209A>G (p.Glu403=)
c.*825A>G (n.*825A>G)
c.2106+177263A>G (n.2106+177263A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184321970A>TCA355389784EIF2B5,EIF4G1c.1386A>T (p.Glu462Asp)
c.1320A>T (p.Glu440Asp)
c.756A>T (p.Glu252Asp)
c.798A>T (p.Glu266Asp)
c.894A>T (p.Glu298Asp)
c.1407A>T (p.Glu469Asp)
c.1125A>T (p.Glu375Asp)
c.1266A>T (p.Glu422Asp)
c.*893A>T (n.*893A>T)
c.1209A>T (p.Glu403Asp)
c.*825A>T (n.*825A>T)
c.2106+177263A>T (n.2106+177263A>T)
3g.184321970_184321973delinsAGAGCA1425953008EIF2B5,EIF4G1c.1386_1389delinsAGAG (p.Glu462=)
c.1320_1323delinsAGAG (p.Glu440=)
c.756_759delinsAGAG (p.Glu252=)
c.798_801delinsAGAG (p.Glu266=)
c.894_897delinsAGAG (p.Glu298=)
c.1407_1410delinsAGAG (p.Glu469=)
c.1125_1128delinsAGAG (p.Glu375=)
c.1266_1269delinsAGAG (p.Glu422=)
c.*893_*896delinsAGAG (n.*893_*896delinsAGAG)
c.1209_1212delinsAGAG (p.Glu403=)
c.*825_*828delinsAGAG (n.*825_*828delinsAGAG)
c.2106+177263_2106+177266delinsAGAG (n.2106+177263_2106+177266delinsAGAG)
3g.184321971G>ACA355389793EIF2B5,EIF4G1c.1387G>A (p.Glu463Lys)
c.1321G>A (p.Glu441Lys)
c.757G>A (p.Glu253Lys)
c.799G>A (p.Glu267Lys)
c.895G>A (p.Glu299Lys)
c.1408G>A (p.Glu470Lys)
c.1126G>A (p.Glu376Lys)
c.1267G>A (p.Glu423Lys)
c.*894G>A (n.*894G>A)
c.1210G>A (p.Glu404Lys)
c.*826G>A (n.*826G>A)
c.2106+177264G>A (n.2106+177264G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.184321971G>CCA355389789EIF2B5,EIF4G1c.1387G>C (p.Glu463Gln)
c.1321G>C (p.Glu441Gln)
c.757G>C (p.Glu253Gln)
c.799G>C (p.Glu267Gln)
c.895G>C (p.Glu299Gln)
c.1408G>C (p.Glu470Gln)
c.1126G>C (p.Glu376Gln)
c.1267G>C (p.Glu423Gln)
c.*894G>C (n.*894G>C)
c.1210G>C (p.Glu404Gln)
c.*826G>C (n.*826G>C)
c.2106+177264G>C (n.2106+177264G>C)
3g.184321971G=CA1425953012EIF2B5,EIF4G1c.1387G= (p.Glu463=)
c.1321G= (p.Glu441=)
c.757G= (p.Glu253=)
c.799G= (p.Glu267=)
c.895G= (p.Glu299=)
c.1408G= (p.Glu470=)
c.1126G= (p.Glu376=)
c.1267G= (p.Glu423=)
c.*894G= (n.*894G=)
c.1210G= (p.Glu404=)
c.*826G= (n.*826G=)
c.2106+177264G= (n.2106+177264G=)
3g.184321971G>TCA355389791EIF2B5,EIF4G1c.1387G>T (p.Glu463Ter)
c.1321G>T (p.Glu441Ter)
c.757G>T (p.Glu253Ter)
c.799G>T (p.Glu267Ter)
c.895G>T (p.Glu299Ter)
c.1408G>T (p.Glu470Ter)
c.1126G>T (p.Glu376Ter)
c.1267G>T (p.Glu423Ter)
c.*894G>T (n.*894G>T)
c.1210G>T (p.Glu404Ter)
c.*826G>T (n.*826G>T)
c.2106+177264G>T (n.2106+177264G>T)
 COSMIC
3g.184321973_184321975delCA903745486EIF2B5,EIF4G1c.1389_1391del (p.Glu464del)
c.1323_1325del (p.Glu442del)
c.759_761del (p.Glu254del)
c.801_803del (p.Glu268del)
c.897_899del (p.Glu300del)
c.1410_1412del (p.Glu471del)
c.1128_1130del (p.Glu377del)
c.1269_1271del (p.Glu424del)
c.*896_*898del (n.*896_*898del)
c.1212_1214del (p.Glu405del)
c.*828_*830del (n.*828_*830del)
c.2106+177266_2106+177268del (n.2106+177266_2106+177268del)
 dbSNP
3g.184321972A=CA1425953019EIF2B5,EIF4G1c.1388A= (p.Glu463=)
c.1322A= (p.Glu441=)
c.758A= (p.Glu253=)
c.800A= (p.Glu267=)
c.896A= (p.Glu299=)
c.1409A= (p.Glu470=)
c.1127A= (p.Glu376=)
c.1268A= (p.Glu423=)
c.*895A= (n.*895A=)
c.1211A= (p.Glu404=)
c.*827A= (n.*827A=)
c.2106+177265A= (n.2106+177265A=)
3g.184321972A>CCA355389798EIF2B5,EIF4G1c.1388A>C (p.Glu463Ala)
c.1322A>C (p.Glu441Ala)
c.758A>C (p.Glu253Ala)
c.800A>C (p.Glu267Ala)
c.896A>C (p.Glu299Ala)
c.1409A>C (p.Glu470Ala)
c.1127A>C (p.Glu376Ala)
c.1268A>C (p.Glu423Ala)
c.*895A>C (n.*895A>C)
c.1211A>C (p.Glu404Ala)
c.*827A>C (n.*827A>C)
c.2106+177265A>C (n.2106+177265A>C)
3g.184321972A>GCA2732177EIF2B5,EIF4G1c.1388A>G (p.Glu463Gly)
c.1322A>G (p.Glu441Gly)
c.758A>G (p.Glu253Gly)
c.800A>G (p.Glu267Gly)
c.896A>G (p.Glu299Gly)
c.1409A>G (p.Glu470Gly)
c.1127A>G (p.Glu376Gly)
c.1268A>G (p.Glu423Gly)
c.*895A>G (n.*895A>G)
c.1211A>G (p.Glu404Gly)
c.*827A>G (n.*827A>G)
c.2106+177265A>G (n.2106+177265A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184321972A>TCA355389802EIF2B5,EIF4G1c.1388A>T (p.Glu463Val)
c.1322A>T (p.Glu441Val)
c.758A>T (p.Glu253Val)
c.800A>T (p.Glu267Val)
c.896A>T (p.Glu299Val)
c.1409A>T (p.Glu470Val)
c.1127A>T (p.Glu376Val)
c.1268A>T (p.Glu423Val)
c.*895A>T (n.*895A>T)
c.1211A>T (p.Glu404Val)
c.*827A>T (n.*827A>T)
c.2106+177265A>T (n.2106+177265A>T)
 gnomAD v4
3g.184321972dupCA1425953014EIF2B5,EIF4G1c.1388dup (p.Glu464GlyfsTer12)
c.1322dup (p.Glu442GlyfsTer12)
c.758dup (p.Glu254GlyfsTer12)
c.800dup (p.Glu268GlyfsTer12)
c.896dup (p.Glu300GlyfsTer12)
c.1409dup (p.Glu471GlyfsTer12)
c.1127dup (p.Glu377GlyfsTer12)
c.1268dup (p.Glu424GlyfsTer12)
c.*895dup (n.*895dup)
c.1211dup (p.Glu405GlyfsTer12)
c.*827dup (n.*827dup)
c.2106+177265dup (n.2106+177265dup)
 dbSNP
3g.184321973G>ACA2732178EIF2B5,EIF4G1c.1389G>A (p.Glu463=)
c.1323G>A (p.Glu441=)
c.759G>A (p.Glu253=)
c.801G>A (p.Glu267=)
c.897G>A (p.Glu299=)
c.1410G>A (p.Glu470=)
c.1128G>A (p.Glu376=)
c.1269G>A (p.Glu423=)
c.*896G>A (n.*896G>A)
c.1212G>A (p.Glu404=)
c.*828G>A (n.*828G>A)
c.2106+177266G>A (n.2106+177266G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184321973G>CCA355389811EIF2B5,EIF4G1c.1389G>C (p.Glu463Asp)
c.1323G>C (p.Glu441Asp)
c.759G>C (p.Glu253Asp)
c.801G>C (p.Glu267Asp)
c.897G>C (p.Glu299Asp)
c.1410G>C (p.Glu470Asp)
c.1128G>C (p.Glu376Asp)
c.1269G>C (p.Glu423Asp)
c.*896G>C (n.*896G>C)
c.1212G>C (p.Glu404Asp)
c.*828G>C (n.*828G>C)
c.2106+177266G>C (n.2106+177266G>C)
3g.184321973G=CA1425953023EIF2B5,EIF4G1c.1389G= (p.Glu463=)
c.1323G= (p.Glu441=)
c.759G= (p.Glu253=)
c.801G= (p.Glu267=)
c.897G= (p.Glu299=)
c.1410G= (p.Glu470=)
c.1128G= (p.Glu376=)
c.1269G= (p.Glu423=)
c.*896G= (n.*896G=)
c.1212G= (p.Glu404=)
c.*828G= (n.*828G=)
c.2106+177266G= (n.2106+177266G=)
3g.184321973G>TCA355389813EIF2B5,EIF4G1c.1389G>T (p.Glu463Asp)
c.1323G>T (p.Glu441Asp)
c.759G>T (p.Glu253Asp)
c.801G>T (p.Glu267Asp)
c.897G>T (p.Glu299Asp)
c.1410G>T (p.Glu470Asp)
c.1128G>T (p.Glu376Asp)
c.1269G>T (p.Glu423Asp)
c.*896G>T (n.*896G>T)
c.1212G>T (p.Glu404Asp)
c.*828G>T (n.*828G>T)
c.2106+177266G>T (n.2106+177266G>T)
 gnomAD v4
3g.184321974delCA2668830448EIF2B5,EIF4G1c.1390del (p.Glu464LysfsTer?)
c.1324del (p.Glu442LysfsTer?)
c.760del (p.Glu254LysfsTer?)
c.802del (p.Glu268LysfsTer?)
c.898del (p.Glu300LysfsTer?)
c.1411del (p.Glu471LysfsTer?)
c.1129del (p.Glu377LysfsTer?)
c.1270del (p.Glu424LysfsTer?)
c.*897del (n.*897del)
c.1213del (p.Glu405LysfsTer?)
c.*829del (n.*829del)
c.2106+177267del (n.2106+177267del)
 gnomAD v4
3g.184321973_184321976delinsGGAACA1425953025EIF2B5,EIF4G1c.1389_1392delinsGGAA (p.Glu463=)
c.1323_1326delinsGGAA (p.Glu441=)
c.759_762delinsGGAA (p.Glu253=)
c.801_804delinsGGAA (p.Glu267=)
c.897_900delinsGGAA (p.Glu299=)
c.1410_1413delinsGGAA (p.Glu470=)
c.1128_1131delinsGGAA (p.Glu376=)
c.1269_1272delinsGGAA (p.Glu423=)
c.*896_*899delinsGGAA (n.*896_*899delinsGGAA)
c.1212_1215delinsGGAA (p.Glu404=)
c.*828_*831delinsGGAA (n.*828_*831delinsGGAA)
c.2106+177266_2106+177269delinsGGAA (n.2106+177266_2106+177269delinsGGAA)
3g.184321974G>ACA355389816EIF2B5,EIF4G1c.1390G>A (p.Glu464Lys)
c.1324G>A (p.Glu442Lys)
c.760G>A (p.Glu254Lys)
c.802G>A (p.Glu268Lys)
c.898G>A (p.Glu300Lys)
c.1411G>A (p.Glu471Lys)
c.1129G>A (p.Glu377Lys)
c.1270G>A (p.Glu424Lys)
c.*897G>A (n.*897G>A)
c.1213G>A (p.Glu405Lys)
c.*829G>A (n.*829G>A)
c.2106+177267G>A (n.2106+177267G>A)
 dbSNP gnomAD v4
3g.184321974G>CCA355389822EIF2B5,EIF4G1c.1390G>C (p.Glu464Gln)
c.1324G>C (p.Glu442Gln)
c.760G>C (p.Glu254Gln)
c.802G>C (p.Glu268Gln)
c.898G>C (p.Glu300Gln)
c.1411G>C (p.Glu471Gln)
c.1129G>C (p.Glu377Gln)
c.1270G>C (p.Glu424Gln)
c.*897G>C (n.*897G>C)
c.1213G>C (p.Glu405Gln)
c.*829G>C (n.*829G>C)
c.2106+177267G>C (n.2106+177267G>C)
3g.184321974G=CA1425953030EIF2B5,EIF4G1c.1390G= (p.Glu464=)
c.1324G= (p.Glu442=)
c.760G= (p.Glu254=)
c.802G= (p.Glu268=)
c.898G= (p.Glu300=)
c.1411G= (p.Glu471=)
c.1129G= (p.Glu377=)
c.1270G= (p.Glu424=)
c.*897G= (n.*897G=)
c.1213G= (p.Glu405=)
c.*829G= (n.*829G=)
c.2106+177267G= (n.2106+177267G=)
3g.184321974G>TCA355389824EIF2B5,EIF4G1c.1390G>T (p.Glu464Ter)
c.1324G>T (p.Glu442Ter)
c.760G>T (p.Glu254Ter)
c.802G>T (p.Glu268Ter)
c.898G>T (p.Glu300Ter)
c.1411G>T (p.Glu471Ter)
c.1129G>T (p.Glu377Ter)
c.1270G>T (p.Glu424Ter)
c.*897G>T (n.*897G>T)
c.1213G>T (p.Glu405Ter)
c.*829G>T (n.*829G>T)
c.2106+177267G>T (n.2106+177267G>T)
3g.184321974_184321975dupCA1425953028EIF2B5,EIF4G1c.1390_1391dup (p.Glu465LysfsTer?)
c.1324_1325dup (p.Glu443LysfsTer?)
c.760_761dup (p.Glu255LysfsTer?)
c.802_803dup (p.Glu269LysfsTer?)
c.898_899dup (p.Glu301LysfsTer?)
c.1411_1412dup (p.Glu472LysfsTer?)
c.1129_1130dup (p.Glu378LysfsTer?)
c.1270_1271dup (p.Glu425LysfsTer?)
c.*897_*898dup (n.*897_*898dup)
c.1213_1214dup (p.Glu406LysfsTer?)
c.*829_*830dup (n.*829_*830dup)
c.2106+177267_2106+177268dup (n.2106+177267_2106+177268dup)
 dbSNP
3g.184321978_184321980delCA903745496EIF2B5,EIF4G1c.1394_1396del (p.Glu465del)
c.1328_1330del (p.Glu443del)
c.764_766del (p.Glu255del)
c.806_808del (p.Glu269del)
c.902_904del (p.Glu301del)
c.1415_1417del (p.Glu472del)
c.1133_1135del (p.Glu378del)
c.1274_1276del (p.Glu425del)
c.*901_*903del (n.*901_*903del)
c.1217_1219del (p.Glu406del)
c.*833_*835del (n.*833_*835del)
c.2106+177271_2106+177273del (n.2106+177271_2106+177273del)
 dbSNP gnomAD v4
3g.184321978_184321986dupCA2577977951EIF2B5,EIF4G1c.1394_1402dup (p.Glu467_Ala468insGluGlyGlu)
c.1328_1336dup (p.Glu445_Ala446insGluGlyGlu)
c.764_772dup (p.Glu257_Ala258insGluGlyGlu)
c.806_814dup (p.Glu271_Ala272insGluGlyGlu)
c.902_910dup (p.Glu303_Ala304insGluGlyGlu)
c.1415_1423dup (p.Glu474_Ala475insGluGlyGlu)
c.1133_1141dup (p.Glu380_Ala381insGluGlyGlu)
c.1274_1282dup (p.Glu427_Ala428insGluGlyGlu)
c.*901_*909dup (n.*901_*909dup)
c.1217_1225dup (p.Glu408_Ala409insGluGlyGlu)
c.*833_*841dup (n.*833_*841dup)
c.2106+177271_2106+177279dup (n.2106+177271_2106+177279dup)
 gnomAD v4
3g.184321975A>CCA355389827EIF2B5,EIF4G1c.1391A>C (p.Glu464Ala)
c.1325A>C (p.Glu442Ala)
c.761A>C (p.Glu254Ala)
c.803A>C (p.Glu268Ala)
c.899A>C (p.Glu300Ala)
c.1412A>C (p.Glu471Ala)
c.1130A>C (p.Glu377Ala)
c.1271A>C (p.Glu424Ala)
c.*898A>C (n.*898A>C)
c.1214A>C (p.Glu405Ala)
c.*830A>C (n.*830A>C)
c.2106+177268A>C (n.2106+177268A>C)
3g.184321975A>GCA355389829EIF2B5,EIF4G1c.1391A>G (p.Glu464Gly)
c.1325A>G (p.Glu442Gly)
c.761A>G (p.Glu254Gly)
c.803A>G (p.Glu268Gly)
c.899A>G (p.Glu300Gly)
c.1412A>G (p.Glu471Gly)
c.1130A>G (p.Glu377Gly)
c.1271A>G (p.Glu424Gly)
c.*898A>G (n.*898A>G)
c.1214A>G (p.Glu405Gly)
c.*830A>G (n.*830A>G)
c.2106+177268A>G (n.2106+177268A>G)
3g.184321975A>TCA355389832EIF2B5,EIF4G1c.1391A>T (p.Glu464Val)
c.1325A>T (p.Glu442Val)
c.761A>T (p.Glu254Val)
c.803A>T (p.Glu268Val)
c.899A>T (p.Glu300Val)
c.1412A>T (p.Glu471Val)
c.1130A>T (p.Glu377Val)
c.1271A>T (p.Glu424Val)
c.*898A>T (n.*898A>T)
c.1214A>T (p.Glu405Val)
c.*830A>T (n.*830A>T)
c.2106+177268A>T (n.2106+177268A>T)
3g.184321976A>CCA355389836EIF2B5,EIF4G1c.1392A>C (p.Glu464Asp)
c.1326A>C (p.Glu442Asp)
c.762A>C (p.Glu254Asp)
c.804A>C (p.Glu268Asp)
c.900A>C (p.Glu300Asp)
c.1413A>C (p.Glu471Asp)
c.1131A>C (p.Glu377Asp)
c.1272A>C (p.Glu424Asp)
c.*899A>C (n.*899A>C)
c.1215A>C (p.Glu405Asp)
c.*831A>C (n.*831A>C)
c.2106+177269A>C (n.2106+177269A>C)
3g.184321976A>GCA437329593EIF2B5,EIF4G1c.1392A>G (p.Glu464=)
c.1326A>G (p.Glu442=)
c.762A>G (p.Glu254=)
c.804A>G (p.Glu268=)
c.900A>G (p.Glu300=)
c.1413A>G (p.Glu471=)
c.1131A>G (p.Glu377=)
c.1272A>G (p.Glu424=)
c.*899A>G (n.*899A>G)
c.1215A>G (p.Glu405=)
c.*831A>G (n.*831A>G)
c.2106+177269A>G (n.2106+177269A>G)
 gnomAD v4
3g.184321976A>TCA355389835EIF2B5,EIF4G1c.1392A>T (p.Glu464Asp)
c.1326A>T (p.Glu442Asp)
c.762A>T (p.Glu254Asp)
c.804A>T (p.Glu268Asp)
c.900A>T (p.Glu300Asp)
c.1413A>T (p.Glu471Asp)
c.1131A>T (p.Glu377Asp)
c.1272A>T (p.Glu424Asp)
c.*899A>T (n.*899A>T)
c.1215A>T (p.Glu405Asp)
c.*831A>T (n.*831A>T)
c.2106+177269A>T (n.2106+177269A>T)
3g.184321977G>ACA355389838EIF2B5,EIF4G1c.1393G>A (p.Glu465Lys)
c.1327G>A (p.Glu443Lys)
c.763G>A (p.Glu255Lys)
c.805G>A (p.Glu269Lys)
c.901G>A (p.Glu301Lys)
c.1414G>A (p.Glu472Lys)
c.1132G>A (p.Glu378Lys)
c.1273G>A (p.Glu425Lys)
c.*900G>A (n.*900G>A)
c.1216G>A (p.Glu406Lys)
c.*832G>A (n.*832G>A)
c.2106+177270G>A (n.2106+177270G>A)
3g.184321977G>CCA355389839EIF2B5,EIF4G1c.1393G>C (p.Glu465Gln)
c.1327G>C (p.Glu443Gln)
c.763G>C (p.Glu255Gln)
c.805G>C (p.Glu269Gln)
c.901G>C (p.Glu301Gln)
c.1414G>C (p.Glu472Gln)
c.1132G>C (p.Glu378Gln)
c.1273G>C (p.Glu425Gln)
c.*900G>C (n.*900G>C)
c.1216G>C (p.Glu406Gln)
c.*832G>C (n.*832G>C)
c.2106+177270G>C (n.2106+177270G>C)
 dbSNP
3g.184321977G=CA1425953031EIF2B5,EIF4G1c.1393G= (p.Glu465=)
c.1327G= (p.Glu443=)
c.763G= (p.Glu255=)
c.805G= (p.Glu269=)
c.901G= (p.Glu301=)
c.1414G= (p.Glu472=)
c.1132G= (p.Glu378=)
c.1273G= (p.Glu425=)
c.*900G= (n.*900G=)
c.1216G= (p.Glu406=)
c.*832G= (n.*832G=)
c.2106+177270G= (n.2106+177270G=)
3g.184321977G>TCA355389840EIF2B5,EIF4G1c.1393G>T (p.Glu465Ter)
c.1327G>T (p.Glu443Ter)
c.763G>T (p.Glu255Ter)
c.805G>T (p.Glu269Ter)
c.901G>T (p.Glu301Ter)
c.1414G>T (p.Glu472Ter)
c.1132G>T (p.Glu378Ter)
c.1273G>T (p.Glu425Ter)
c.*900G>T (n.*900G>T)
c.1216G>T (p.Glu406Ter)
c.*832G>T (n.*832G>T)
c.2106+177270G>T (n.2106+177270G>T)
3g.184321978A=CA1425953037EIF2B5,EIF4G1c.1394A= (p.Glu465=)
c.1328A= (p.Glu443=)
c.764A= (p.Glu255=)
c.806A= (p.Glu269=)
c.902A= (p.Glu301=)
c.1415A= (p.Glu472=)
c.1133A= (p.Glu378=)
c.1274A= (p.Glu425=)
c.*901A= (n.*901A=)
c.1217A= (p.Glu406=)
c.*833A= (n.*833A=)
c.2106+177271A= (n.2106+177271A=)
3g.184321978A>CCA2732180EIF2B5,EIF4G1c.1394A>C (p.Glu465Ala)
c.1328A>C (p.Glu443Ala)
c.764A>C (p.Glu255Ala)
c.806A>C (p.Glu269Ala)
c.902A>C (p.Glu301Ala)
c.1415A>C (p.Glu472Ala)
c.1133A>C (p.Glu378Ala)
c.1274A>C (p.Glu425Ala)
c.*901A>C (n.*901A>C)
c.1217A>C (p.Glu406Ala)
c.*833A>C (n.*833A>C)
c.2106+177271A>C (n.2106+177271A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184321978A>GCA355389845EIF2B5,EIF4G1c.1394A>G (p.Glu465Gly)
c.1328A>G (p.Glu443Gly)
c.764A>G (p.Glu255Gly)
c.806A>G (p.Glu269Gly)
c.902A>G (p.Glu301Gly)
c.1415A>G (p.Glu472Gly)
c.1133A>G (p.Glu378Gly)
c.1274A>G (p.Glu425Gly)
c.*901A>G (n.*901A>G)
c.1217A>G (p.Glu406Gly)
c.*833A>G (n.*833A>G)
c.2106+177271A>G (n.2106+177271A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184321978A>TCA355389848EIF2B5,EIF4G1c.1394A>T (p.Glu465Val)
c.1328A>T (p.Glu443Val)
c.764A>T (p.Glu255Val)
c.806A>T (p.Glu269Val)
c.902A>T (p.Glu301Val)
c.1415A>T (p.Glu472Val)
c.1133A>T (p.Glu378Val)
c.1274A>T (p.Glu425Val)
c.*901A>T (n.*901A>T)
c.1217A>T (p.Glu406Val)
c.*833A>T (n.*833A>T)
c.2106+177271A>T (n.2106+177271A>T)
3g.184321978_184321981delinsAAGGCA1425953036EIF2B5,EIF4G1c.1394_1397delinsAAGG (p.Glu465=)
c.1328_1331delinsAAGG (p.Glu443=)
c.764_767delinsAAGG (p.Glu255=)
c.806_809delinsAAGG (p.Glu269=)
c.902_905delinsAAGG (p.Glu301=)
c.1415_1418delinsAAGG (p.Glu472=)
c.1133_1136delinsAAGG (p.Glu378=)
c.1274_1277delinsAAGG (p.Glu425=)
c.*901_*904delinsAAGG (n.*901_*904delinsAAGG)
c.1217_1220delinsAAGG (p.Glu406=)
c.*833_*836delinsAAGG (n.*833_*836delinsAAGG)
c.2106+177271_2106+177274delinsAAGG (n.2106+177271_2106+177274delinsAAGG)
3g.184321978_184321987delinsAAGGAGAAGCCA1425953038EIF2B5,EIF4G1c.1394_1403delinsAAGGAGAAGC (p.Glu465=)
c.1328_1337delinsAAGGAGAAGC (p.Glu443=)
c.764_773delinsAAGGAGAAGC (p.Glu255=)
c.806_815delinsAAGGAGAAGC (p.Glu269=)
c.902_911delinsAAGGAGAAGC (p.Glu301=)
c.1415_1424delinsAAGGAGAAGC (p.Glu472=)
c.1133_1142delinsAAGGAGAAGC (p.Glu378=)
c.1274_1283delinsAAGGAGAAGC (p.Glu425=)
c.*901_*910delinsAAGGAGAAGC (n.*901_*910delinsAAGGAGAAGC)
c.1217_1226delinsAAGGAGAAGC (p.Glu406=)
c.*833_*842delinsAAGGAGAAGC (n.*833_*842delinsAAGGAGAAGC)
c.2106+177271_2106+177280delinsAAGGAGAAGC (n.2106+177271_2106+177280delinsAAGGAGAAGC)
3g.184321979A=CA1425953047EIF2B5,EIF4G1c.1395A= (p.Glu465=)
c.1329A= (p.Glu443=)
c.765A= (p.Glu255=)
c.807A= (p.Glu269=)
c.903A= (p.Glu301=)
c.1416A= (p.Glu472=)
c.1134A= (p.Glu378=)
c.1275A= (p.Glu425=)
c.*902A= (n.*902A=)
c.1218A= (p.Glu406=)
c.*834A= (n.*834A=)
c.2106+177272A= (n.2106+177272A=)
3g.184321979A>CCA355389858EIF2B5,EIF4G1c.1395A>C (p.Glu465Asp)
c.1329A>C (p.Glu443Asp)
c.765A>C (p.Glu255Asp)
c.807A>C (p.Glu269Asp)
c.903A>C (p.Glu301Asp)
c.1416A>C (p.Glu472Asp)
c.1134A>C (p.Glu378Asp)
c.1275A>C (p.Glu425Asp)
c.*902A>C (n.*902A>C)
c.1218A>C (p.Glu406Asp)
c.*834A>C (n.*834A>C)
c.2106+177272A>C (n.2106+177272A>C)
 dbSNP gnomAD v3 gnomAD v4
3g.184321979A>GCA437329597EIF2B5,EIF4G1c.1395A>G (p.Glu465=)
c.1329A>G (p.Glu443=)
c.765A>G (p.Glu255=)
c.807A>G (p.Glu269=)
c.903A>G (p.Glu301=)
c.1416A>G (p.Glu472=)
c.1134A>G (p.Glu378=)
c.1275A>G (p.Glu425=)
c.*902A>G (n.*902A>G)
c.1218A>G (p.Glu406=)
c.*834A>G (n.*834A>G)
c.2106+177272A>G (n.2106+177272A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184321979A>TCA88863405EIF2B5,EIF4G1c.1395A>T (p.Glu465Asp)
c.1329A>T (p.Glu443Asp)
c.765A>T (p.Glu255Asp)
c.807A>T (p.Glu269Asp)
c.903A>T (p.Glu301Asp)
c.1416A>T (p.Glu472Asp)
c.1134A>T (p.Glu378Asp)
c.1275A>T (p.Glu425Asp)
c.*902A>T (n.*902A>T)
c.1218A>T (p.Glu406Asp)
c.*834A>T (n.*834A>T)
c.2106+177272A>T (n.2106+177272A>T)
 dbSNP gnomAD v2 gnomAD v4
3g.184321981_184321983delCA548795500EIF2B5,EIF4G1c.1397_1399del (p.Gly466del)
c.1331_1333del (p.Gly444del)
c.767_769del (p.Gly256del)
c.809_811del (p.Gly270del)
c.905_907del (p.Gly302del)
c.1418_1420del (p.Gly473del)
c.1136_1138del (p.Gly379del)
c.1277_1279del (p.Gly426del)
c.*904_*906del (n.*904_*906del)
c.1220_1222del (p.Gly407del)
c.*836_*838del (n.*836_*838del)
c.2106+177274_2106+177276del (n.2106+177274_2106+177276del)
 dbSNP gnomAD v2 gnomAD v4
3g.184321997_184322005dupCA2732181EIF2B5,EIF4G1c.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
3g.184321997_184322005delCA2732179EIF2B5,EIF4G1c.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
3g.184321980G>ACA355389871EIF2B5,EIF4G1c.1396G>A (p.Gly466Arg)
c.1330G>A (p.Gly444Arg)
c.766G>A (p.Gly256Arg)
c.808G>A (p.Gly270Arg)
c.904G>A (p.Gly302Arg)
c.1417G>A (p.Gly473Arg)
c.1135G>A (p.Gly379Arg)
c.1276G>A (p.Gly426Arg)
c.*903G>A (n.*903G>A)
c.1219G>A (p.Gly407Arg)
c.*835G>A (n.*835G>A)
c.2106+177273G>A (n.2106+177273G>A)
 gnomAD v4
3g.184321980G>CCA355389874EIF2B5,EIF4G1c.1396G>C (p.Gly466Arg)
c.1330G>C (p.Gly444Arg)
c.766G>C (p.Gly256Arg)
c.808G>C (p.Gly270Arg)
c.904G>C (p.Gly302Arg)
c.1417G>C (p.Gly473Arg)
c.1135G>C (p.Gly379Arg)
c.1276G>C (p.Gly426Arg)
c.*903G>C (n.*903G>C)
c.1219G>C (p.Gly407Arg)
c.*835G>C (n.*835G>C)
c.2106+177273G>C (n.2106+177273G>C)
3g.184321980G>TCA355389879EIF2B5,EIF4G1c.1396G>T (p.Gly466Ter)
c.1330G>T (p.Gly444Ter)
c.766G>T (p.Gly256Ter)
c.808G>T (p.Gly270Ter)
c.904G>T (p.Gly302Ter)
c.1417G>T (p.Gly473Ter)
c.1135G>T (p.Gly379Ter)
c.1276G>T (p.Gly426Ter)
c.*903G>T (n.*903G>T)
c.1219G>T (p.Gly407Ter)
c.*835G>T (n.*835G>T)
c.2106+177273G>T (n.2106+177273G>T)
3g.184321981G>ACA2732182EIF2B5,EIF4G1c.1397G>A (p.Gly466Glu)
c.1331G>A (p.Gly444Glu)
c.767G>A (p.Gly256Glu)
c.809G>A (p.Gly270Glu)
c.905G>A (p.Gly302Glu)
c.1418G>A (p.Gly473Glu)
c.1136G>A (p.Gly379Glu)
c.1277G>A (p.Gly426Glu)
c.*904G>A (n.*904G>A)
c.1220G>A (p.Gly407Glu)
c.*836G>A (n.*836G>A)
c.2106+177274G>A (n.2106+177274G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184321981G>CCA355389880EIF2B5,EIF4G1c.1397G>C (p.Gly466Ala)
c.1331G>C (p.Gly444Ala)
c.767G>C (p.Gly256Ala)
c.809G>C (p.Gly270Ala)
c.905G>C (p.Gly302Ala)
c.1418G>C (p.Gly473Ala)
c.1136G>C (p.Gly379Ala)
c.1277G>C (p.Gly426Ala)
c.*904G>C (n.*904G>C)
c.1220G>C (p.Gly407Ala)
c.*836G>C (n.*836G>C)
c.2106+177274G>C (n.2106+177274G>C)
3g.184321981G=CA1425953052EIF2B5,EIF4G1c.1397G= (p.Gly466=)
c.1331G= (p.Gly444=)
c.767G= (p.Gly256=)
c.809G= (p.Gly270=)
c.905G= (p.Gly302=)
c.1418G= (p.Gly473=)
c.1136G= (p.Gly379=)
c.1277G= (p.Gly426=)
c.*904G= (n.*904G=)
c.1220G= (p.Gly407=)
c.*836G= (n.*836G=)
c.2106+177274G= (n.2106+177274G=)
3g.184321981G>TCA355389881EIF2B5,EIF4G1c.1397G>T (p.Gly466Val)
c.1331G>T (p.Gly444Val)
c.767G>T (p.Gly256Val)
c.809G>T (p.Gly270Val)
c.905G>T (p.Gly302Val)
c.1418G>T (p.Gly473Val)
c.1136G>T (p.Gly379Val)
c.1277G>T (p.Gly426Val)
c.*904G>T (n.*904G>T)
c.1220G>T (p.Gly407Val)
c.*836G>T (n.*836G>T)
c.2106+177274G>T (n.2106+177274G>T)
3g.184321982A=CA1425953054EIF2B5,EIF4G1c.1398A= (p.Gly466=)
c.1332A= (p.Gly444=)
c.768A= (p.Gly256=)
c.810A= (p.Gly270=)
c.906A= (p.Gly302=)
c.1419A= (p.Gly473=)
c.1137A= (p.Gly379=)
c.1278A= (p.Gly426=)
c.*905A= (n.*905A=)
c.1221A= (p.Gly407=)
c.*837A= (n.*837A=)
c.2106+177275A= (n.2106+177275A=)
3g.184321982A>CCA437329601EIF2B5,EIF4G1c.1398A>C (p.Gly466=)
c.1332A>C (p.Gly444=)
c.768A>C (p.Gly256=)
c.810A>C (p.Gly270=)
c.906A>C (p.Gly302=)
c.1419A>C (p.Gly473=)
c.1137A>C (p.Gly379=)
c.1278A>C (p.Gly426=)
c.*905A>C (n.*905A>C)
c.1221A>C (p.Gly407=)
c.*837A>C (n.*837A>C)
c.2106+177275A>C (n.2106+177275A>C)
3g.184321982A>GCA2732183EIF2B5,EIF4G1c.1398A>G (p.Gly466=)
c.1332A>G (p.Gly444=)
c.768A>G (p.Gly256=)
c.810A>G (p.Gly270=)
c.906A>G (p.Gly302=)
c.1419A>G (p.Gly473=)
c.1137A>G (p.Gly379=)
c.1278A>G (p.Gly426=)
c.*905A>G (n.*905A>G)
c.1221A>G (p.Gly407=)
c.*837A>G (n.*837A>G)
c.2106+177275A>G (n.2106+177275A>G)
 dbSNP ExAC gnomAD v4
3g.184321982A>TCA437329603EIF2B5,EIF4G1c.1398A>T (p.Gly466=)
c.1332A>T (p.Gly444=)
c.768A>T (p.Gly256=)
c.810A>T (p.Gly270=)
c.906A>T (p.Gly302=)
c.1419A>T (p.Gly473=)
c.1137A>T (p.Gly379=)
c.1278A>T (p.Gly426=)
c.*905A>T (n.*905A>T)
c.1221A>T (p.Gly407=)
c.*837A>T (n.*837A>T)
c.2106+177275A>T (n.2106+177275A>T)
3g.184321983G>ACA355389890EIF2B5,EIF4G1c.1399G>A (p.Glu467Lys)
c.1333G>A (p.Glu445Lys)
c.769G>A (p.Glu257Lys)
c.811G>A (p.Glu271Lys)
c.907G>A (p.Glu303Lys)
c.1420G>A (p.Glu474Lys)
c.1138G>A (p.Glu380Lys)
c.1279G>A (p.Glu427Lys)
c.*906G>A (n.*906G>A)
c.1222G>A (p.Glu408Lys)
c.*838G>A (n.*838G>A)
c.2106+177276G>A (n.2106+177276G>A)
3g.184321983G>CCA355389893EIF2B5,EIF4G1c.1399G>C (p.Glu467Gln)
c.1333G>C (p.Glu445Gln)
c.769G>C (p.Glu257Gln)
c.811G>C (p.Glu271Gln)
c.907G>C (p.Glu303Gln)
c.1420G>C (p.Glu474Gln)
c.1138G>C (p.Glu380Gln)
c.1279G>C (p.Glu427Gln)
c.*906G>C (n.*906G>C)
c.1222G>C (p.Glu408Gln)
c.*838G>C (n.*838G>C)
c.2106+177276G>C (n.2106+177276G>C)
3g.184321983G>TCA355389894EIF2B5,EIF4G1c.1399G>T (p.Glu467Ter)
c.1333G>T (p.Glu445Ter)
c.769G>T (p.Glu257Ter)
c.811G>T (p.Glu271Ter)
c.907G>T (p.Glu303Ter)
c.1420G>T (p.Glu474Ter)
c.1138G>T (p.Glu380Ter)
c.1279G>T (p.Glu427Ter)
c.*906G>T (n.*906G>T)
c.1222G>T (p.Glu408Ter)
c.*838G>T (n.*838G>T)
c.2106+177276G>T (n.2106+177276G>T)
3g.184321984A>CCA355389895EIF2B5,EIF4G1c.1400A>C (p.Glu467Ala)
c.1334A>C (p.Glu445Ala)
c.770A>C (p.Glu257Ala)
c.812A>C (p.Glu271Ala)
c.908A>C (p.Glu303Ala)
c.1421A>C (p.Glu474Ala)
c.1139A>C (p.Glu380Ala)
c.1280A>C (p.Glu427Ala)
c.*907A>C (n.*907A>C)
c.1223A>C (p.Glu408Ala)
c.*839A>C (n.*839A>C)
c.2106+177277A>C (n.2106+177277A>C)
3g.184321984A>GCA355389898EIF2B5,EIF4G1c.1400A>G (p.Glu467Gly)
c.1334A>G (p.Glu445Gly)
c.770A>G (p.Glu257Gly)
c.812A>G (p.Glu271Gly)
c.908A>G (p.Glu303Gly)
c.1421A>G (p.Glu474Gly)
c.1139A>G (p.Glu380Gly)
c.1280A>G (p.Glu427Gly)
c.*907A>G (n.*907A>G)
c.1223A>G (p.Glu408Gly)
c.*839A>G (n.*839A>G)
c.2106+177277A>G (n.2106+177277A>G)
3g.184321984A>TCA355389901EIF2B5,EIF4G1c.1400A>T (p.Glu467Val)
c.1334A>T (p.Glu445Val)
c.770A>T (p.Glu257Val)
c.812A>T (p.Glu271Val)
c.908A>T (p.Glu303Val)
c.1421A>T (p.Glu474Val)
c.1139A>T (p.Glu380Val)
c.1280A>T (p.Glu427Val)
c.*907A>T (n.*907A>T)
c.1223A>T (p.Glu408Val)
c.*839A>T (n.*839A>T)
c.2106+177277A>T (n.2106+177277A>T)
3g.184321984_184321990delinsAAGCAGGCA1425953056EIF2B5,EIF4G1c.1400_1406delinsAAGCAGG (p.Glu467=)
c.1334_1340delinsAAGCAGG (p.Glu445=)
c.770_776delinsAAGCAGG (p.Glu257=)
c.812_818delinsAAGCAGG (p.Glu271=)
c.908_914delinsAAGCAGG (p.Glu303=)
c.1421_1427delinsAAGCAGG (p.Glu474=)
c.1139_1145delinsAAGCAGG (p.Glu380=)
c.1280_1286delinsAAGCAGG (p.Glu427=)
c.*907_*913delinsAAGCAGG (n.*907_*913delinsAAGCAGG)
c.1223_1229delinsAAGCAGG (p.Glu408=)
c.*839_*845delinsAAGCAGG (n.*839_*845delinsAAGCAGG)
c.2106+177277_2106+177283delinsAAGCAGG (n.2106+177277_2106+177283delinsAAGCAGG)
3g.184321985A>CCA355389911EIF2B5,EIF4G1c.1401A>C (p.Glu467Asp)
c.1335A>C (p.Glu445Asp)
c.771A>C (p.Glu257Asp)
c.813A>C (p.Glu271Asp)
c.909A>C (p.Glu303Asp)
c.1422A>C (p.Glu474Asp)
c.1140A>C (p.Glu380Asp)
c.1281A>C (p.Glu427Asp)
c.*908A>C (n.*908A>C)
c.1224A>C (p.Glu408Asp)
c.*840A>C (n.*840A>C)
c.2106+177278A>C (n.2106+177278A>C)
3g.184321985A>GCA437329606EIF2B5,EIF4G1c.1401A>G (p.Glu467=)
c.1335A>G (p.Glu445=)
c.771A>G (p.Glu257=)
c.813A>G (p.Glu271=)
c.909A>G (p.Glu303=)
c.1422A>G (p.Glu474=)
c.1140A>G (p.Glu380=)
c.1281A>G (p.Glu427=)
c.*908A>G (n.*908A>G)
c.1224A>G (p.Glu408=)
c.*840A>G (n.*840A>G)
c.2106+177278A>G (n.2106+177278A>G)
3g.184321985A>TCA355389914EIF2B5,EIF4G1c.1401A>T (p.Glu467Asp)
c.1335A>T (p.Glu445Asp)
c.771A>T (p.Glu257Asp)
c.813A>T (p.Glu271Asp)
c.909A>T (p.Glu303Asp)
c.1422A>T (p.Glu474Asp)
c.1140A>T (p.Glu380Asp)
c.1281A>T (p.Glu427Asp)
c.*908A>T (n.*908A>T)
c.1224A>T (p.Glu408Asp)
c.*840A>T (n.*840A>T)
c.2106+177278A>T (n.2106+177278A>T)
3g.184321987_184321992delCA2732184EIF2B5,EIF4G1c.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
3g.184321986G>ACA355389932EIF2B5,EIF4G1c.1402G>A (p.Ala468Thr)
c.1336G>A (p.Ala446Thr)
c.772G>A (p.Ala258Thr)
c.814G>A (p.Ala272Thr)
c.910G>A (p.Ala304Thr)
c.1423G>A (p.Ala475Thr)
c.1141G>A (p.Ala381Thr)
c.1282G>A (p.Ala428Thr)
c.*909G>A (n.*909G>A)
c.1225G>A (p.Ala409Thr)
c.*841G>A (n.*841G>A)
c.2106+177279G>A (n.2106+177279G>A)
3g.184321986G>CCA355389937EIF2B5,EIF4G1c.1402G>C (p.Ala468Pro)
c.1336G>C (p.Ala446Pro)
c.772G>C (p.Ala258Pro)
c.814G>C (p.Ala272Pro)
c.910G>C (p.Ala304Pro)
c.1423G>C (p.Ala475Pro)
c.1141G>C (p.Ala381Pro)
c.1282G>C (p.Ala428Pro)
c.*909G>C (n.*909G>C)
c.1225G>C (p.Ala409Pro)
c.*841G>C (n.*841G>C)
c.2106+177279G>C (n.2106+177279G>C)
3g.184321986G>TCA355389941EIF2B5,EIF4G1c.1402G>T (p.Ala468Ser)
c.1336G>T (p.Ala446Ser)
c.772G>T (p.Ala258Ser)
c.814G>T (p.Ala272Ser)
c.910G>T (p.Ala304Ser)
c.1423G>T (p.Ala475Ser)
c.1141G>T (p.Ala381Ser)
c.1282G>T (p.Ala428Ser)
c.*909G>T (n.*909G>T)
c.1225G>T (p.Ala409Ser)
c.*841G>T (n.*841G>T)
c.2106+177279G>T (n.2106+177279G>T)
3g.184321987C>ACA88863409EIF2B5,EIF4G1c.1403C>A (p.Ala468Glu)
c.1337C>A (p.Ala446Glu)
c.773C>A (p.Ala258Glu)
c.815C>A (p.Ala272Glu)
c.911C>A (p.Ala304Glu)
c.1424C>A (p.Ala475Glu)
c.1142C>A (p.Ala381Glu)
c.1283C>A (p.Ala428Glu)
c.*910C>A (n.*910C>A)
c.1226C>A (p.Ala409Glu)
c.*842C>A (n.*842C>A)
c.2106+177280C>A (n.2106+177280C>A)
 dbSNP gnomAD v4
3g.184321987C=CA1425953059EIF2B5,EIF4G1c.1403C= (p.Ala468=)
c.1337C= (p.Ala446=)
c.773C= (p.Ala258=)
c.815C= (p.Ala272=)
c.911C= (p.Ala304=)
c.1424C= (p.Ala475=)
c.1142C= (p.Ala381=)
c.1283C= (p.Ala428=)
c.*910C= (n.*910C=)
c.1226C= (p.Ala409=)
c.*842C= (n.*842C=)
c.2106+177280C= (n.2106+177280C=)
3g.184321987C>GCA355389942EIF2B5,EIF4G1c.1403C>G (p.Ala468Gly)
c.1337C>G (p.Ala446Gly)
c.773C>G (p.Ala258Gly)
c.815C>G (p.Ala272Gly)
c.911C>G (p.Ala304Gly)
c.1424C>G (p.Ala475Gly)
c.1142C>G (p.Ala381Gly)
c.1283C>G (p.Ala428Gly)
c.*910C>G (n.*910C>G)
c.1226C>G (p.Ala409Gly)
c.*842C>G (n.*842C>G)
c.2106+177280C>G (n.2106+177280C>G)
3g.184321987C>TCA355389943EIF2B5,EIF4G1c.1403C>T (p.Ala468Val)
c.1337C>T (p.Ala446Val)
c.773C>T (p.Ala258Val)
c.815C>T (p.Ala272Val)
c.911C>T (p.Ala304Val)
c.1424C>T (p.Ala475Val)
c.1142C>T (p.Ala381Val)
c.1283C>T (p.Ala428Val)
c.*910C>T (n.*910C>T)
c.1226C>T (p.Ala409Val)
c.*842C>T (n.*842C>T)
c.2106+177280C>T (n.2106+177280C>T)
3g.184321988A>CCA437329610EIF2B5,EIF4G1c.1404A>C (p.Ala468=)
c.1338A>C (p.Ala446=)
c.774A>C (p.Ala258=)
c.816A>C (p.Ala272=)
c.912A>C (p.Ala304=)
c.1425A>C (p.Ala475=)
c.1143A>C (p.Ala381=)
c.1284A>C (p.Ala428=)
c.*911A>C (n.*911A>C)
c.1227A>C (p.Ala409=)
c.*843A>C (n.*843A>C)
c.2106+177281A>C (n.2106+177281A>C)
3g.184321988A>GCA437329611EIF2B5,EIF4G1c.1404A>G (p.Ala468=)
c.1338A>G (p.Ala446=)
c.774A>G (p.Ala258=)
c.816A>G (p.Ala272=)
c.912A>G (p.Ala304=)
c.1425A>G (p.Ala475=)
c.1143A>G (p.Ala381=)
c.1284A>G (p.Ala428=)
c.*911A>G (n.*911A>G)
c.1227A>G (p.Ala409=)
c.*843A>G (n.*843A>G)
c.2106+177281A>G (n.2106+177281A>G)
 gnomAD v4
3g.184321988A>TCA437329612EIF2B5,EIF4G1c.1404A>T (p.Ala468=)
c.1338A>T (p.Ala446=)
c.774A>T (p.Ala258=)
c.816A>T (p.Ala272=)
c.912A>T (p.Ala304=)
c.1425A>T (p.Ala475=)
c.1143A>T (p.Ala381=)
c.1284A>T (p.Ala428=)
c.*911A>T (n.*911A>T)
c.1227A>T (p.Ala409=)
c.*843A>T (n.*843A>T)
c.2106+177281A>T (n.2106+177281A>T)
3g.184321989G>ACA355389950EIF2B5,EIF4G1c.1405G>A (p.Gly469Arg)
c.1339G>A (p.Gly447Arg)
c.775G>A (p.Gly259Arg)
c.817G>A (p.Gly273Arg)
c.913G>A (p.Gly305Arg)
c.1426G>A (p.Gly476Arg)
c.1144G>A (p.Gly382Arg)
c.1285G>A (p.Gly429Arg)
c.*912G>A (n.*912G>A)
c.1228G>A (p.Gly410Arg)
c.*844G>A (n.*844G>A)
c.2106+177282G>A (n.2106+177282G>A)
 gnomAD v4
3g.184321989G>CCA355389957EIF2B5,EIF4G1c.1405G>C (p.Gly469Arg)
c.1339G>C (p.Gly447Arg)
c.775G>C (p.Gly259Arg)
c.817G>C (p.Gly273Arg)
c.913G>C (p.Gly305Arg)
c.1426G>C (p.Gly476Arg)
c.1144G>C (p.Gly382Arg)
c.1285G>C (p.Gly429Arg)
c.*912G>C (n.*912G>C)
c.1228G>C (p.Gly410Arg)
c.*844G>C (n.*844G>C)
c.2106+177282G>C (n.2106+177282G>C)
3g.184321989G>TCA355389967EIF2B5,EIF4G1c.1405G>T (p.Gly469Ter)
c.1339G>T (p.Gly447Ter)
c.775G>T (p.Gly259Ter)
c.817G>T (p.Gly273Ter)
c.913G>T (p.Gly305Ter)
c.1426G>T (p.Gly476Ter)
c.1144G>T (p.Gly382Ter)
c.1285G>T (p.Gly429Ter)
c.*912G>T (n.*912G>T)
c.1228G>T (p.Gly410Ter)
c.*844G>T (n.*844G>T)
c.2106+177282G>T (n.2106+177282G>T)
3g.184321990delCA2668830461EIF2B5,EIF4G1c.1406del (p.Gly469GlufsTer?)
c.1340del (p.Gly447GlufsTer?)
c.776del (p.Gly259GlufsTer?)
c.818del (p.Gly273GlufsTer?)
c.914del (p.Gly305GlufsTer?)
c.1427del (p.Gly476GlufsTer?)
c.1145del (p.Gly382GlufsTer?)
c.1286del (p.Gly429GlufsTer?)
c.*913del (n.*913del)
c.1229del (p.Gly410GlufsTer?)
c.*845del (n.*845del)
c.2106+177283del (n.2106+177283del)
 gnomAD v4
3g.184321990G>ACA2732185EIF2B5,EIF4G1c.1406G>A (p.Gly469Glu)
c.1340G>A (p.Gly447Glu)
c.776G>A (p.Gly259Glu)
c.818G>A (p.Gly273Glu)
c.914G>A (p.Gly305Glu)
c.1427G>A (p.Gly476Glu)
c.1145G>A (p.Gly382Glu)
c.1286G>A (p.Gly429Glu)
c.*913G>A (n.*913G>A)
c.1229G>A (p.Gly410Glu)
c.*845G>A (n.*845G>A)
c.2106+177283G>A (n.2106+177283G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184321990G>CCA355389989EIF2B5,EIF4G1c.1406G>C (p.Gly469Ala)
c.1340G>C (p.Gly447Ala)
c.776G>C (p.Gly259Ala)
c.818G>C (p.Gly273Ala)
c.914G>C (p.Gly305Ala)
c.1427G>C (p.Gly476Ala)
c.1145G>C (p.Gly382Ala)
c.1286G>C (p.Gly429Ala)
c.*913G>C (n.*913G>C)
c.1229G>C (p.Gly410Ala)
c.*845G>C (n.*845G>C)
c.2106+177283G>C (n.2106+177283G>C)
3g.184321990G=CA1425953062EIF2B5,EIF4G1c.1406G= (p.Gly469=)
c.1340G= (p.Gly447=)
c.776G= (p.Gly259=)
c.818G= (p.Gly273=)
c.914G= (p.Gly305=)
c.1427G= (p.Gly476=)
c.1145G= (p.Gly382=)
c.1286G= (p.Gly429=)
c.*913G= (n.*913G=)
c.1229G= (p.Gly410=)
c.*845G= (n.*845G=)
c.2106+177283G= (n.2106+177283G=)
3g.184321990G>TCA355389995EIF2B5,EIF4G1c.1406G>T (p.Gly469Val)
c.1340G>T (p.Gly447Val)
c.776G>T (p.Gly259Val)
c.818G>T (p.Gly273Val)
c.914G>T (p.Gly305Val)
c.1427G>T (p.Gly476Val)
c.1145G>T (p.Gly382Val)
c.1286G>T (p.Gly429Val)
c.*913G>T (n.*913G>T)
c.1229G>T (p.Gly410Val)
c.*845G>T (n.*845G>T)
c.2106+177283G>T (n.2106+177283G>T)
3g.184321991A>CCA437329617EIF2B5,EIF4G1c.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)
3g.184321991A>GCA437329613EIF2B5,EIF4G1c.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)
3g.184321991A>TCA437329615EIF2B5,EIF4G1c.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)
3g.184321992G>ACA355390010EIF2B5,EIF4G1c.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)
3g.184321992G>CCA355390001EIF2B5,EIF4G1c.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)
3g.184321992G>TCA355390007EIF2B5,EIF4G1c.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)
3g.184321992_184321999delCA2668830465EIF2B5,EIF4G1c.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
3g.184321993A>CCA355390013EIF2B5,EIF4G1c.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)
3g.184321993A>GCA355390023EIF2B5,EIF4G1c.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)
3g.184321993A>TCA355390035EIF2B5,EIF4G1c.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)
3g.184321994A=CA1425953065EIF2B5,EIF4G1c.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=)
3g.184321994A>CCA355390046EIF2B5,EIF4G1c.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)
3g.184321994A>GCA437329620EIF2B5,EIF4G1c.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
3g.184321994A>TCA355390051EIF2B5,EIF4G1c.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)
3g.184321995G>ACA355390059EIF2B5,EIF4G1c.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)
3g.184321995G>CCA355390052EIF2B5,EIF4G1c.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)
3g.184321995G>TCA355390054EIF2B5,EIF4G1c.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)
3g.184321996C>ACA355390064EIF2B5,EIF4G1c.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)
3g.184321996C=CA1425953069EIF2B5,EIF4G1c.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=)
3g.184321996C>GCA355390080EIF2B5,EIF4G1c.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
3g.184321996C>TCA355390082EIF2B5,EIF4G1c.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)
3g.184321997A>CCA437329625EIF2B5,EIF4G1c.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)
3g.184321997A>GCA437329622EIF2B5,EIF4G1c.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
3g.184321997A>TCA437329623EIF2B5,EIF4G1c.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
3g.184321999_184322001delCA2668830466EIF2B5,EIF4G1c.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
3g.184321997_184322006delinsAGGAGAAGCTCA1425953072EIF2B5,EIF4G1c.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)
3g.184321998G>ACA355390094EIF2B5,EIF4G1c.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)
3g.184321998G>CCA355390097EIF2B5,EIF4G1c.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
3g.184321998G=CA1425953073EIF2B5,EIF4G1c.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=)
3g.184321998G>TCA355390100EIF2B5,EIF4G1c.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)
3g.184321999_184322007delCA2732186EIF2B5,EIF4G1c.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
3g.184321999G>ACA88863410EIF2B5,EIF4G1c.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
3g.184321999G>CCA355390121EIF2B5,EIF4G1c.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)
3g.184321999G=CA1425953075EIF2B5,EIF4G1c.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=)
3g.184321999G>TCA355390125EIF2B5,EIF4G1c.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)
3g.184322000A=CA1425953078EIF2B5,EIF4G1c.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=)
3g.184322000A>CCA2732188EIF2B5,EIF4G1c.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
3g.184322000A>GCA2732187EIF2B5,EIF4G1c.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
3g.184322000A>TCA437329630EIF2B5,EIF4G1c.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)
3g.184322001G>ACA355390133EIF2B5,EIF4G1c.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)
3g.184322001G>CCA355390130EIF2B5,EIF4G1c.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)
3g.184322001G>TCA355390131EIF2B5,EIF4G1c.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)
3g.184322002A>CCA355390140EIF2B5,EIF4G1c.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)
3g.184322002A>GCA355390142EIF2B5,EIF4G1c.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
3g.184322002A>TCA355390148EIF2B5,EIF4G1c.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)
3g.184322003A=CA1425953083EIF2B5,EIF4G1c.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=)
3g.184322003A>CCA355390149EIF2B5,EIF4G1c.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
3g.184322003A>GCA437329631EIF2B5,EIF4G1c.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)
3g.184322003A>TCA355390150EIF2B5,EIF4G1c.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)
3g.184322004G>ACA2732189EIF2B5,EIF4G1c.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
3g.184322004G>CCA355390155EIF2B5,EIF4G1c.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)
3g.184322004G=CA1425953085EIF2B5,EIF4G1c.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=)
3g.184322004G>TCA355390157EIF2B5,EIF4G1c.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)
3g.184322005C>ACA355390159EIF2B5,EIF4G1c.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)
3g.184322005C=CA1425953089EIF2B5,EIF4G1c.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=)
3g.184322005C>GCA355390162EIF2B5,EIF4G1c.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
3g.184322005C>TCA355390164EIF2B5,EIF4G1c.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)
3g.184322005_184322006insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAACA1057225277EIF2B5,EIF4G1c.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
3g.184322006T>ACA437329633EIF2B5,EIF4G1c.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
3g.184322006T>CCA2732190EIF2B5,EIF4G1c.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
3g.184322006T>GCA437329635EIF2B5,EIF4G1c.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)
3g.184322006T=CA1425953091EIF2B5,EIF4G1c.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=)
3g.184322007G>ACA355390204EIF2B5,EIF4G1c.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
3g.184322007G>CCA355390186EIF2B5,EIF4G1c.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
3g.184322007G=CA1425953095EIF2B5,EIF4G1c.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=)
3g.184322007G>TCA355390183EIF2B5,EIF4G1c.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)
3g.184322008A=CA1425953097EIF2B5,EIF4G1c.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=)
3g.184322008A>CCA355390211EIF2B5,EIF4G1c.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)
3g.184322008A>GCA355390217EIF2B5,EIF4G1c.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)
3g.184322008A>TCA355390220EIF2B5,EIF4G1c.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
3g.184322009G>ACA88863420EIF2B5,EIF4G1c.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
3g.184322009G>CCA355390231EIF2B5,EIF4G1c.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)
3g.184322009G=CA1425953100EIF2B5,EIF4G1c.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=)
3g.184322009G>TCA355390257EIF2B5,EIF4G1c.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)
3g.184322010A>CCA355390268EIF2B5,EIF4G1c.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)
3g.184322010A>GCA355390271EIF2B5,EIF4G1c.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)
3g.184322010A>TCA355390273EIF2B5,EIF4G1c.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)
3g.184322011G>ACA355390279EIF2B5,EIF4G1c.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)
3g.184322011G>CCA355390282EIF2B5,EIF4G1c.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
3g.184322011G=CA1425953103EIF2B5,EIF4G1c.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=)
3g.184322011G>TCA355390287EIF2B5,EIF4G1c.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)
3g.184322012T>ACA355390300EIF2B5,EIF4G1c.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
3g.184322012T>CCA437329641EIF2B5,EIF4G1c.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)
3g.184322012T>GCA355390303EIF2B5,EIF4G1c.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)
3g.184322013G>ACA2732191EIF2B5,EIF4G1c.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
3g.184322013G>CCA88863422EIF2B5,EIF4G1c.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
3g.184322013G=CA1425953105EIF2B5,EIF4G1c.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=)
3g.184322013G>TCA355390313EIF2B5,EIF4G1c.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)
3g.184322014A>CCA355390328EIF2B5,EIF4G1c.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
3g.184322014A>GCA355390334EIF2B5,EIF4G1c.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
3g.184322014A>TCA355390332EIF2B5,EIF4G1c.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)
3g.184322015G>ACA437329644EIF2B5,EIF4G1c.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)
3g.184322015G>CCA355390340EIF2B5,EIF4G1c.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)
3g.184322015G>TCA355390345EIF2B5,EIF4G1c.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)
3g.184322016A>CCA355390352EIF2B5,EIF4G1c.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)
3g.184322016A>GCA355390356EIF2B5,EIF4G1c.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)
3g.184322016A>TCA355390359EIF2B5,EIF4G1c.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)
3g.184322017A>CCA355390368EIF2B5,EIF4G1c.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)
3g.184322017A>GCA355390370EIF2B5,EIF4G1c.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
3g.184322017A>TCA355390372EIF2B5,EIF4G1c.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)
3g.184322017_184322020delinsAAGGCA1425953107EIF2B5,EIF4G1c.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)
3g.184322018A>CCA355390374EIF2B5,EIF4G1c.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)
3g.184322018A>GCA437329648EIF2B5,EIF4G1c.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
3g.184322018A>TCA355390377EIF2B5,EIF4G1c.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)
3g.184322023_184322025delCA548795501EIF2B5,EIF4G1c.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
3g.184322019G>ACA355390382EIF2B5,EIF4G1c.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)
3g.184322019G>CCA355390386EIF2B5,EIF4G1c.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)
3g.184322019G>TCA355390389EIF2B5,EIF4G1c.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)
3g.184322020G>ACA355390405EIF2B5,EIF4G1c.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)
3g.184322020G>CCA355390401EIF2B5,EIF4G1c.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)
3g.184322020G=CA1425953111EIF2B5,EIF4G1c.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=)
3g.184322020G>TCA355390399EIF2B5,EIF4G1c.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
3g.184322021A=CA1425953114EIF2B5,EIF4G1c.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=)
3g.184322021A>CCA437329651EIF2B5,EIF4G1c.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)
3g.184322021A>GCA437329653EIF2B5,EIF4G1c.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
3g.184322021A>TCA437329655EIF2B5,EIF4G1c.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
3g.184322022G>ACA355390409EIF2B5,EIF4G1c.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)
3g.184322022G>CCA355390418EIF2B5,EIF4G1c.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)
3g.184322022G>TCA355390424EIF2B5,EIF4G1c.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)
3g.184322023G>ACA2732192EIF2B5,EIF4G1c.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
3g.184322023G>CCA355390425EIF2B5,EIF4G1c.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)
3g.184322023G=CA1425953115EIF2B5,EIF4G1c.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=)
3g.184322023G>TCA355390427EIF2B5,EIF4G1c.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)
3g.184322024A>CCA437329657EIF2B5,EIF4G1c.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)
3g.184322024A>GCA437329659EIF2B5,EIF4G1c.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)
3g.184322024A>TCA437329661EIF2B5,EIF4G1c.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)
3g.184322025G>ACA355390429EIF2B5,EIF4G1c.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)
3g.184322025G>CCA355390430EIF2B5,EIF4G1c.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)
3g.184322025G>TCA355390434EIF2B5,EIF4G1c.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)
3g.184322026A>CCA355390439EIF2B5,EIF4G1c.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)
3g.184322026A>GCA355390446EIF2B5,EIF4G1c.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)
3g.184322026A>TCA355390450EIF2B5,EIF4G1c.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)
3g.184322027G>ACA437329662EIF2B5,EIF4G1c.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)
3g.184322027G>CCA355390455EIF2B5,EIF4G1c.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)
3g.184322027G>TCA355390451EIF2B5,EIF4G1c.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)
3g.184322028G>ACA355390463EIF2B5,EIF4G1c.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
3g.184322028G>CCA88863427EIF2B5,EIF4G1c.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
3g.184322028G=CA1425953117EIF2B5,EIF4G1c.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=)
3g.184322028G>TCA355390465EIF2B5,EIF4G1c.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)
3g.184322029A>CCA355390475EIF2B5,EIF4G1c.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)
3g.184322029A>GCA355390484EIF2B5,EIF4G1c.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)
3g.184322029A>TCA355390488EIF2B5,EIF4G1c.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)
3g.184322030A=CA1425953122EIF2B5,EIF4G1c.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=)
3g.184322030A>CCA355390503EIF2B5,EIF4G1c.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)
3g.184322030A>GCA437329668EIF2B5,EIF4G1c.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
3g.184322030A>TCA355390499EIF2B5,EIF4G1c.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
3g.184322031C>ACA355390507EIF2B5,EIF4G1c.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)
3g.184322031C=CA1425953126EIF2B5,EIF4G1c.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=)
3g.184322031C>GCA2732193EIF2B5,EIF4G1c.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
3g.184322031C>TCA437329670EIF2B5,EIF4G1c.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)
3g.184322032T>ACA355390509EIF2B5,EIF4G1c.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)
3g.184322032T>CCA355390511EIF2B5,EIF4G1c.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)
3g.184322032T>GCA355390515EIF2B5,EIF4G1c.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)
3g.184322033G>ACA2732194EIF2B5,EIF4G1c.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
3g.184322033G>CCA437329672EIF2B5,EIF4G1c.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
3g.184322033G=CA1425953129EIF2B5,EIF4G1c.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=)
3g.184322033G>TCA437329671EIF2B5,EIF4G1c.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)
3g.184322034C>ACA355390522EIF2B5,EIF4G1c.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)
3g.184322034C=CA1425953134EIF2B5,EIF4G1c.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=)
3g.184322034C>GCA355390533EIF2B5,EIF4G1c.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)
3g.184322034C>TCA2732195EIF2B5,EIF4G1c.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
3g.184322035T>ACA355390549EIF2B5,EIF4G1c.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
3g.184322035T>CCA355390554EIF2B5,EIF4G1c.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)
3g.184322035T>GCA355390571EIF2B5,EIF4G1c.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)
3g.184322035T=CA1425953138EIF2B5,EIF4G1c.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=)
3g.184322035_184322036delinsTCCA1425953139EIF2B5,EIF4G1c.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)
3g.184322036C>ACA437329675EIF2B5,EIF4G1c.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
3g.184322036C=CA1425953144EIF2B5,EIF4G1c.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=)
3g.184322036C>GCA437329673EIF2B5,EIF4G1c.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)
3g.184322036C>TCA437329674EIF2B5,EIF4G1c.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
3g.184322041dupCA548795502EIF2B5,EIF4G1c.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
3g.184322041delCA917083526EIF2B5,EIF4G1c.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
3g.184322037C>ACA355390576EIF2B5,EIF4G1c.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)
3g.184322037C=CA1425953147EIF2B5,EIF4G1c.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=)
3g.184322037C>GCA355390585EIF2B5,EIF4G1c.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)
3g.184322037C>TCA2732196EIF2B5,EIF4G1c.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
3g.184322038C>ACA355390599EIF2B5,EIF4G1c.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)
3g.184322038C=CA1425953150EIF2B5,EIF4G1c.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=)
3g.184322038C>GCA355390601EIF2B5,EIF4G1c.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
3g.184322038C>TCA355390608EIF2B5,EIF4G1c.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
3g.184322039C>ACA2732197EIF2B5,EIF4G1c.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
3g.184322039C=CA1425953152EIF2B5,EIF4G1c.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=)
3g.184322039C>GCA437329677EIF2B5,EIF4G1c.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
3g.184322039C>TCA437329676EIF2B5,EIF4G1c.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
3g.184322040C>ACA355390617EIF2B5,EIF4G1c.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
3g.184322040C=CA1425953155EIF2B5,EIF4G1c.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=)
3g.184322040C>GCA2732199EIF2B5,EIF4G1c.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
3g.184322040C>TCA2732198EIF2B5,EIF4G1c.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
3g.184322041C>ACA355390618EIF2B5,EIF4G1c.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
3g.184322041C=CA1425953158EIF2B5,EIF4G1c.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=)
3g.184322041C>GCA355390623EIF2B5,EIF4G1c.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
3g.184322041C>TCA2732200EIF2B5,EIF4G1c.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
3g.184322042A=CA1425953161EIF2B5,EIF4G1c.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=)
3g.184322042A>CCA2732201EIF2B5,EIF4G1c.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
3g.184322042A>GCA437329678EIF2B5,EIF4G1c.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)
3g.184322042A>TCA2732202EIF2B5,EIF4G1c.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
3g.184322043G>ACA355390627EIF2B5,EIF4G1c.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)
3g.184322043G>CCA355390628EIF2B5,EIF4G1c.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)
3g.184322043G>TCA355390629EIF2B5,EIF4G1c.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)
3g.184322044A>CCA355390630EIF2B5,EIF4G1c.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)
3g.184322044A>GCA355390632EIF2B5,EIF4G1c.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)
3g.184322044A>TCA355390634EIF2B5,EIF4G1c.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)
3g.184322045G>ACA437329679EIF2B5,EIF4G1c.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)
3g.184322045G>CCA355390637EIF2B5,EIF4G1c.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
3g.184322045G>TCA355390641EIF2B5,EIF4G1c.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)

Number of alleles fetched