Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
3	g.184321997_184322005dup	CA2732181	EIF2B5,EIF4G1	c.1413_1421dup (p.Ala474_Glu475insGlyGluAla) c.1347_1355dup (p.Ala452_Glu453insGlyGluAla) c.783_791dup (p.Ala264_Glu265insGlyGluAla) c.825_833dup (p.Ala278_Glu279insGlyGluAla) c.921_929dup (p.Ala310_Glu311insGlyGluAla) c.1434_1442dup (p.Ala481_Glu482insGlyGluAla) c.1152_1160dup (p.Ala387_Glu388insGlyGluAla) c.1293_1301dup (p.Ala434_Glu435insGlyGluAla) c.920_928dup (n.920_928dup) c.1236_1244dup (p.Ala415_Glu416insGlyGluAla) c.852_860dup (n.852_860dup) c.2106+177290_2106+177298dup (n.2106+177290_2106+177298dup)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184321997_184322005del	CA2732179	EIF2B5,EIF4G1	c.1413_1421del (p.Gly472_Ala474del) c.1347_1355del (p.Gly450_Ala452del) c.783_791del (p.Gly262_Ala264del) c.825_833del (p.Gly276_Ala278del) c.921_929del (p.Gly308_Ala310del) c.1434_1442del (p.Gly479_Ala481del) c.1152_1160del (p.Gly385_Ala387del) c.1293_1301del (p.Gly432_Ala434del) c.920_928del (n.920_928del) c.1236_1244del (p.Gly413_Ala415del) c.852_860del (n.852_860del) c.2106+177290_2106+177298del (n.2106+177290_2106+177298del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.184321992_184321999del	CA2668830465	EIF2B5,EIF4G1	c.1408_1415del (p.Glu470ArgfsTer3) c.1342_1349del (p.Glu448ArgfsTer3) c.778_785del (p.Glu260ArgfsTer3) c.820_827del (p.Glu274ArgfsTer3) c.916_923del (p.Glu306ArgfsTer3) c.1429_1436del (p.Glu477ArgfsTer3) c.1147_1154del (p.Glu383ArgfsTer3) c.1288_1295del (p.Glu430ArgfsTer3) c.915_922del (n.915_922del) c.1231_1238del (p.Glu411ArgfsTer3) c.847_854del (n.847_854del) c.2106+177285_2106+177292del (n.2106+177285_2106+177292del)	gnomAD v4
3	g.184321997A>C	CA437329625	EIF2B5,EIF4G1	c.1413A>C (p.Ala471=) c.1347A>C (p.Ala449=) c.783A>C (p.Ala261=) c.825A>C (p.Ala275=) c.921A>C (p.Ala307=) c.1434A>C (p.Ala478=) c.1152A>C (p.Ala384=) c.1293A>C (p.Ala431=) c.920A>C (n.920A>C) c.1236A>C (p.Ala412=) c.852A>C (n.852A>C) c.2106+177290A>C (n.2106+177290A>C)
3	g.184321997A>G	CA437329622	EIF2B5,EIF4G1	c.1413A>G (p.Ala471=) c.1347A>G (p.Ala449=) c.783A>G (p.Ala261=) c.825A>G (p.Ala275=) c.921A>G (p.Ala307=) c.1434A>G (p.Ala478=) c.1152A>G (p.Ala384=) c.1293A>G (p.Ala431=) c.920A>G (n.920A>G) c.1236A>G (p.Ala412=) c.852A>G (n.852A>G) c.2106+177290A>G (n.2106+177290A>G)	gnomAD v4
3	g.184321997A>T	CA437329623	EIF2B5,EIF4G1	c.1413A>T (p.Ala471=) c.1347A>T (p.Ala449=) c.783A>T (p.Ala261=) c.825A>T (p.Ala275=) c.921A>T (p.Ala307=) c.1434A>T (p.Ala478=) c.1152A>T (p.Ala384=) c.1293A>T (p.Ala431=) c.920A>T (n.920A>T) c.1236A>T (p.Ala412=) c.852A>T (n.852A>T) c.2106+177290A>T (n.2106+177290A>T)	dbSNP
3	g.184321999_184322001del	CA2668830466	EIF2B5,EIF4G1	c.1415_1417del (p.Gly472del) c.1349_1351del (p.Gly450del) c.785_787del (p.Gly262del) c.827_829del (p.Gly276del) c.923_925del (p.Gly308del) c.1436_1438del (p.Gly479del) c.1154_1156del (p.Gly385del) c.1295_1297del (p.Gly432del) c.922_924del (n.922_924del) c.1238_1240del (p.Gly413del) c.854_856del (n.854_856del) c.2106+177292_2106+177294del (n.2106+177292_2106+177294del)	gnomAD v4
3	g.184321997_184322006delinsAGGAGAAGCT	CA1425953072	EIF2B5,EIF4G1	c.1413_1422delinsAGGAGAAGCT (p.Ala471=) c.1347_1356delinsAGGAGAAGCT (p.Ala449=) c.783_792delinsAGGAGAAGCT (p.Ala261=) c.825_834delinsAGGAGAAGCT (p.Ala275=) c.921_930delinsAGGAGAAGCT (p.Ala307=) c.1434_1443delinsAGGAGAAGCT (p.Ala478=) c.1152_1161delinsAGGAGAAGCT (p.Ala384=) c.1293_1302delinsAGGAGAAGCT (p.Ala431=) c.920_929delinsAGGAGAAGCT (n.920_929delinsAGGAGAAGCT) c.1236_1245delinsAGGAGAAGCT (p.Ala412=) c.852_861delinsAGGAGAAGCT (n.852_861delinsAGGAGAAGCT) c.2106+177290_2106+177299delinsAGGAGAAGCT (n.2106+177290_2106+177299delinsAGGAGAAGCT)
3	g.184321998G>A	CA355390094	EIF2B5,EIF4G1	c.1414G>A (p.Gly472Arg) c.1348G>A (p.Gly450Arg) c.784G>A (p.Gly262Arg) c.826G>A (p.Gly276Arg) c.922G>A (p.Gly308Arg) c.1435G>A (p.Gly479Arg) c.1153G>A (p.Gly385Arg) c.1294G>A (p.Gly432Arg) c.921G>A (n.921G>A) c.1237G>A (p.Gly413Arg) c.853G>A (n.853G>A) c.2106+177291G>A (n.2106+177291G>A)
3	g.184321998G>C	CA355390097	EIF2B5,EIF4G1	c.1414G>C (p.Gly472Arg) c.1348G>C (p.Gly450Arg) c.784G>C (p.Gly262Arg) c.826G>C (p.Gly276Arg) c.922G>C (p.Gly308Arg) c.1435G>C (p.Gly479Arg) c.1153G>C (p.Gly385Arg) c.1294G>C (p.Gly432Arg) c.921G>C (n.921G>C) c.1237G>C (p.Gly413Arg) c.853G>C (n.853G>C) c.2106+177291G>C (n.2106+177291G>C)	dbSNP gnomAD v2 gnomAD v4
3	g.184321998G=	CA1425953073	EIF2B5,EIF4G1	c.1414G= (p.Gly472=) c.1348G= (p.Gly450=) c.784G= (p.Gly262=) c.826G= (p.Gly276=) c.922G= (p.Gly308=) c.1435G= (p.Gly479=) c.1153G= (p.Gly385=) c.1294G= (p.Gly432=) c.921G= (n.921G=) c.1237G= (p.Gly413=) c.853G= (n.853G=) c.2106+177291G= (n.2106+177291G=)
3	g.184321998G>T	CA355390100	EIF2B5,EIF4G1	c.1414G>T (p.Gly472Ter) c.1348G>T (p.Gly450Ter) c.784G>T (p.Gly262Ter) c.826G>T (p.Gly276Ter) c.922G>T (p.Gly308Ter) c.1435G>T (p.Gly479Ter) c.1153G>T (p.Gly385Ter) c.1294G>T (p.Gly432Ter) c.921G>T (n.921G>T) c.1237G>T (p.Gly413Ter) c.853G>T (n.853G>T) c.2106+177291G>T (n.2106+177291G>T)
3	g.184321999_184322007del	CA2732186	EIF2B5,EIF4G1	c.1415_1423del (p.Gly472_Ala474del) c.1349_1357del (p.Gly450_Ala452del) c.785_793del (p.Gly262_Ala264del) c.827_835del (p.Gly276_Ala278del) c.923_931del (p.Gly308_Ala310del) c.1436_1444del (p.Gly479_Ala481del) c.1154_1162del (p.Gly385_Ala387del) c.1295_1303del (p.Gly432_Ala434del) c.922_930del (n.922_930del) c.1238_1246del (p.Gly413_Ala415del) c.854_862del (n.854_862del) c.2106+177292_2106+177300del (n.2106+177292_2106+177300del)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.184321999G>A	CA88863410	EIF2B5,EIF4G1	c.1415G>A (p.Gly472Glu) c.1349G>A (p.Gly450Glu) c.785G>A (p.Gly262Glu) c.827G>A (p.Gly276Glu) c.923G>A (p.Gly308Glu) c.1436G>A (p.Gly479Glu) c.1154G>A (p.Gly385Glu) c.1295G>A (p.Gly432Glu) c.922G>A (n.922G>A) c.1238G>A (p.Gly413Glu) c.854G>A (n.854G>A) c.2106+177292G>A (n.2106+177292G>A)	dbSNP
3	g.184321999G>C	CA355390121	EIF2B5,EIF4G1	c.1415G>C (p.Gly472Ala) c.1349G>C (p.Gly450Ala) c.785G>C (p.Gly262Ala) c.827G>C (p.Gly276Ala) c.923G>C (p.Gly308Ala) c.1436G>C (p.Gly479Ala) c.1154G>C (p.Gly385Ala) c.1295G>C (p.Gly432Ala) c.922G>C (n.922G>C) c.1238G>C (p.Gly413Ala) c.854G>C (n.854G>C) c.2106+177292G>C (n.2106+177292G>C)
3	g.184321999G=	CA1425953075	EIF2B5,EIF4G1	c.1415G= (p.Gly472=) c.1349G= (p.Gly450=) c.785G= (p.Gly262=) c.827G= (p.Gly276=) c.923G= (p.Gly308=) c.1436G= (p.Gly479=) c.1154G= (p.Gly385=) c.1295G= (p.Gly432=) c.922G= (n.922G=) c.1238G= (p.Gly413=) c.854G= (n.854G=) c.2106+177292G= (n.2106+177292G=)
3	g.184321999G>T	CA355390125	EIF2B5,EIF4G1	c.1415G>T (p.Gly472Val) c.1349G>T (p.Gly450Val) c.785G>T (p.Gly262Val) c.827G>T (p.Gly276Val) c.923G>T (p.Gly308Val) c.1436G>T (p.Gly479Val) c.1154G>T (p.Gly385Val) c.1295G>T (p.Gly432Val) c.922G>T (n.922G>T) c.1238G>T (p.Gly413Val) c.854G>T (n.854G>T) c.2106+177292G>T (n.2106+177292G>T)
3	g.184322000A=	CA1425953078	EIF2B5,EIF4G1	c.1416A= (p.Gly472=) c.1350A= (p.Gly450=) c.786A= (p.Gly262=) c.828A= (p.Gly276=) c.924A= (p.Gly308=) c.1437A= (p.Gly479=) c.1155A= (p.Gly385=) c.1296A= (p.Gly432=) c.923A= (n.923A=) c.1239A= (p.Gly413=) c.855A= (n.855A=) c.2106+177293A= (n.2106+177293A=)
3	g.184322000A>C	CA2732188	EIF2B5,EIF4G1	c.1416A>C (p.Gly472=) c.1350A>C (p.Gly450=) c.786A>C (p.Gly262=) c.828A>C (p.Gly276=) c.924A>C (p.Gly308=) c.1437A>C (p.Gly479=) c.1155A>C (p.Gly385=) c.1296A>C (p.Gly432=) c.923A>C (n.923A>C) c.1239A>C (p.Gly413=) c.855A>C (n.855A>C) c.2106+177293A>C (n.2106+177293A>C)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.184322000A>G	CA2732187	EIF2B5,EIF4G1	c.1416A>G (p.Gly472=) c.1350A>G (p.Gly450=) c.786A>G (p.Gly262=) c.828A>G (p.Gly276=) c.924A>G (p.Gly308=) c.1437A>G (p.Gly479=) c.1155A>G (p.Gly385=) c.1296A>G (p.Gly432=) c.923A>G (n.923A>G) c.1239A>G (p.Gly413=) c.855A>G (n.855A>G) c.2106+177293A>G (n.2106+177293A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322000A>T	CA437329630	EIF2B5,EIF4G1	c.1416A>T (p.Gly472=) c.1350A>T (p.Gly450=) c.786A>T (p.Gly262=) c.828A>T (p.Gly276=) c.924A>T (p.Gly308=) c.1437A>T (p.Gly479=) c.1155A>T (p.Gly385=) c.1296A>T (p.Gly432=) c.923A>T (n.923A>T) c.1239A>T (p.Gly413=) c.855A>T (n.855A>T) c.2106+177293A>T (n.2106+177293A>T)
3	g.184322001G>A	CA355390133	EIF2B5,EIF4G1	c.1417G>A (p.Glu473Lys) c.1351G>A (p.Glu451Lys) c.787G>A (p.Glu263Lys) c.829G>A (p.Glu277Lys) c.925G>A (p.Glu309Lys) c.1438G>A (p.Glu480Lys) c.1156G>A (p.Glu386Lys) c.1297G>A (p.Glu433Lys) c.924G>A (n.924G>A) c.1240G>A (p.Glu414Lys) c.856G>A (n.856G>A) c.2106+177294G>A (n.2106+177294G>A)
3	g.184322001G>C	CA355390130	EIF2B5,EIF4G1	c.1417G>C (p.Glu473Gln) c.1351G>C (p.Glu451Gln) c.787G>C (p.Glu263Gln) c.829G>C (p.Glu277Gln) c.925G>C (p.Glu309Gln) c.1438G>C (p.Glu480Gln) c.1156G>C (p.Glu386Gln) c.1297G>C (p.Glu433Gln) c.924G>C (n.924G>C) c.1240G>C (p.Glu414Gln) c.856G>C (n.856G>C) c.2106+177294G>C (n.2106+177294G>C)
3	g.184322001G>T	CA355390131	EIF2B5,EIF4G1	c.1417G>T (p.Glu473Ter) c.1351G>T (p.Glu451Ter) c.787G>T (p.Glu263Ter) c.829G>T (p.Glu277Ter) c.925G>T (p.Glu309Ter) c.1438G>T (p.Glu480Ter) c.1156G>T (p.Glu386Ter) c.1297G>T (p.Glu433Ter) c.924G>T (n.924G>T) c.1240G>T (p.Glu414Ter) c.856G>T (n.856G>T) c.2106+177294G>T (n.2106+177294G>T)
3	g.184322002A>C	CA355390140	EIF2B5,EIF4G1	c.1418A>C (p.Glu473Ala) c.1352A>C (p.Glu451Ala) c.788A>C (p.Glu263Ala) c.830A>C (p.Glu277Ala) c.926A>C (p.Glu309Ala) c.1439A>C (p.Glu480Ala) c.1157A>C (p.Glu386Ala) c.1298A>C (p.Glu433Ala) c.925A>C (n.925A>C) c.1241A>C (p.Glu414Ala) c.857A>C (n.857A>C) c.2106+177295A>C (n.2106+177295A>C)
3	g.184322002A>G	CA355390142	EIF2B5,EIF4G1	c.1418A>G (p.Glu473Gly) c.1352A>G (p.Glu451Gly) c.788A>G (p.Glu263Gly) c.830A>G (p.Glu277Gly) c.926A>G (p.Glu309Gly) c.1439A>G (p.Glu480Gly) c.1157A>G (p.Glu386Gly) c.1298A>G (p.Glu433Gly) c.925A>G (n.925A>G) c.1241A>G (p.Glu414Gly) c.857A>G (n.857A>G) c.2106+177295A>G (n.2106+177295A>G)	gnomAD v4
3	g.184322002A>T	CA355390148	EIF2B5,EIF4G1	c.1418A>T (p.Glu473Val) c.1352A>T (p.Glu451Val) c.788A>T (p.Glu263Val) c.830A>T (p.Glu277Val) c.926A>T (p.Glu309Val) c.1439A>T (p.Glu480Val) c.1157A>T (p.Glu386Val) c.1298A>T (p.Glu433Val) c.925A>T (n.925A>T) c.1241A>T (p.Glu414Val) c.857A>T (n.857A>T) c.2106+177295A>T (n.2106+177295A>T)
3	g.184322003A=	CA1425953083	EIF2B5,EIF4G1	c.1419A= (p.Glu473=) c.1353A= (p.Glu451=) c.789A= (p.Glu263=) c.831A= (p.Glu277=) c.927A= (p.Glu309=) c.1440A= (p.Glu480=) c.1158A= (p.Glu386=) c.1299A= (p.Glu433=) c.926A= (n.926A=) c.1242A= (p.Glu414=) c.858A= (n.858A=) c.2106+177296A= (n.2106+177296A=)
3	g.184322003A>C	CA355390149	EIF2B5,EIF4G1	c.1419A>C (p.Glu473Asp) c.1353A>C (p.Glu451Asp) c.789A>C (p.Glu263Asp) c.831A>C (p.Glu277Asp) c.927A>C (p.Glu309Asp) c.1440A>C (p.Glu480Asp) c.1158A>C (p.Glu386Asp) c.1299A>C (p.Glu433Asp) c.926A>C (n.926A>C) c.1242A>C (p.Glu414Asp) c.858A>C (n.858A>C) c.2106+177296A>C (n.2106+177296A>C)	dbSNP gnomAD v2 gnomAD v4
3	g.184322003A>G	CA437329631	EIF2B5,EIF4G1	c.1419A>G (p.Glu473=) c.1353A>G (p.Glu451=) c.789A>G (p.Glu263=) c.831A>G (p.Glu277=) c.927A>G (p.Glu309=) c.1440A>G (p.Glu480=) c.1158A>G (p.Glu386=) c.1299A>G (p.Glu433=) c.926A>G (n.926A>G) c.1242A>G (p.Glu414=) c.858A>G (n.858A>G) c.2106+177296A>G (n.2106+177296A>G)
3	g.184322003A>T	CA355390150	EIF2B5,EIF4G1	c.1419A>T (p.Glu473Asp) c.1353A>T (p.Glu451Asp) c.789A>T (p.Glu263Asp) c.831A>T (p.Glu277Asp) c.927A>T (p.Glu309Asp) c.1440A>T (p.Glu480Asp) c.1158A>T (p.Glu386Asp) c.1299A>T (p.Glu433Asp) c.926A>T (n.926A>T) c.1242A>T (p.Glu414Asp) c.858A>T (n.858A>T) c.2106+177296A>T (n.2106+177296A>T)
3	g.184322004G>A	CA2732189	EIF2B5,EIF4G1	c.1420G>A (p.Ala474Thr) c.1354G>A (p.Ala452Thr) c.790G>A (p.Ala264Thr) c.832G>A (p.Ala278Thr) c.928G>A (p.Ala310Thr) c.1441G>A (p.Ala481Thr) c.1159G>A (p.Ala387Thr) c.1300G>A (p.Ala434Thr) c.927G>A (n.927G>A) c.1243G>A (p.Ala415Thr) c.859G>A (n.859G>A) c.2106+177297G>A (n.2106+177297G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.184322004G>C	CA355390155	EIF2B5,EIF4G1	c.1420G>C (p.Ala474Pro) c.1354G>C (p.Ala452Pro) c.790G>C (p.Ala264Pro) c.832G>C (p.Ala278Pro) c.928G>C (p.Ala310Pro) c.1441G>C (p.Ala481Pro) c.1159G>C (p.Ala387Pro) c.1300G>C (p.Ala434Pro) c.927G>C (n.927G>C) c.1243G>C (p.Ala415Pro) c.859G>C (n.859G>C) c.2106+177297G>C (n.2106+177297G>C)
3	g.184322004G=	CA1425953085	EIF2B5,EIF4G1	c.1420G= (p.Ala474=) c.1354G= (p.Ala452=) c.790G= (p.Ala264=) c.832G= (p.Ala278=) c.928G= (p.Ala310=) c.1441G= (p.Ala481=) c.1159G= (p.Ala387=) c.1300G= (p.Ala434=) c.927G= (n.927G=) c.1243G= (p.Ala415=) c.859G= (n.859G=) c.2106+177297G= (n.2106+177297G=)
3	g.184322004G>T	CA355390157	EIF2B5,EIF4G1	c.1420G>T (p.Ala474Ser) c.1354G>T (p.Ala452Ser) c.790G>T (p.Ala264Ser) c.832G>T (p.Ala278Ser) c.928G>T (p.Ala310Ser) c.1441G>T (p.Ala481Ser) c.1159G>T (p.Ala387Ser) c.1300G>T (p.Ala434Ser) c.927G>T (n.927G>T) c.1243G>T (p.Ala415Ser) c.859G>T (n.859G>T) c.2106+177297G>T (n.2106+177297G>T)
3	g.184322005C>A	CA355390159	EIF2B5,EIF4G1	c.1421C>A (p.Ala474Asp) c.1355C>A (p.Ala452Asp) c.791C>A (p.Ala264Asp) c.833C>A (p.Ala278Asp) c.929C>A (p.Ala310Asp) c.1442C>A (p.Ala481Asp) c.1160C>A (p.Ala387Asp) c.1301C>A (p.Ala434Asp) c.928C>A (n.928C>A) c.1244C>A (p.Ala415Asp) c.860C>A (n.860C>A) c.2106+177298C>A (n.2106+177298C>A)
3	g.184322005C=	CA1425953089	EIF2B5,EIF4G1	c.1421C= (p.Ala474=) c.1355C= (p.Ala452=) c.791C= (p.Ala264=) c.833C= (p.Ala278=) c.929C= (p.Ala310=) c.1442C= (p.Ala481=) c.1160C= (p.Ala387=) c.1301C= (p.Ala434=) c.928C= (n.928C=) c.1244C= (p.Ala415=) c.860C= (n.860C=) c.2106+177298C= (n.2106+177298C=)
3	g.184322005C>G	CA355390162	EIF2B5,EIF4G1	c.1421C>G (p.Ala474Gly) c.1355C>G (p.Ala452Gly) c.791C>G (p.Ala264Gly) c.833C>G (p.Ala278Gly) c.929C>G (p.Ala310Gly) c.1442C>G (p.Ala481Gly) c.1160C>G (p.Ala387Gly) c.1301C>G (p.Ala434Gly) c.928C>G (n.928C>G) c.1244C>G (p.Ala415Gly) c.860C>G (n.860C>G) c.2106+177298C>G (n.2106+177298C>G)	dbSNP gnomAD v4
3	g.184322005C>T	CA355390164	EIF2B5,EIF4G1	c.1421C>T (p.Ala474Val) c.1355C>T (p.Ala452Val) c.791C>T (p.Ala264Val) c.833C>T (p.Ala278Val) c.929C>T (p.Ala310Val) c.1442C>T (p.Ala481Val) c.1160C>T (p.Ala387Val) c.1301C>T (p.Ala434Val) c.928C>T (n.928C>T) c.1244C>T (p.Ala415Val) c.860C>T (n.860C>T) c.2106+177298C>T (n.2106+177298C>T)
3	g.184322005_184322006insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA	CA1057225277	EIF2B5,EIF4G1	c.1421_1422insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu475GlyfsTer12) c.1355_1356insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu453GlyfsTer12) c.791_792insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu265GlyfsTer12) c.833_834insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu279GlyfsTer12) c.929_930insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu311GlyfsTer12) c.1442_1443insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu482GlyfsTer12) c.1160_1161insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu388GlyfsTer12) c.1301_1302insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu435GlyfsTer12) c.928_929insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (n.928_929insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA) c.1244_1245insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (p.Glu416GlyfsTer12) c.860_861insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (n.860_861insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA) c.2106+177298_2106+177299insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA (n.2106+177298_2106+177299insGGGCGGCCCGACGGAGCATCCCGGAGAAGACGCATGAAGCACGCCTATACCTGCGCGCCGGCGGACTGGGCGCATCACAGCTGGCTCGAGGACGGCCGTCCGATCCGCAACGAACGCGCCGCGCGCAA)	gnomAD v3 gnomAD v4
3	g.184322006T>A	CA437329633	EIF2B5,EIF4G1	c.1422T>A (p.Ala474=) c.1356T>A (p.Ala452=) c.792T>A (p.Ala264=) c.834T>A (p.Ala278=) c.930T>A (p.Ala310=) c.1443T>A (p.Ala481=) c.1161T>A (p.Ala387=) c.1302T>A (p.Ala434=) c.929T>A (n.929T>A) c.1245T>A (p.Ala415=) c.861T>A (n.861T>A) c.2106+177299T>A (n.2106+177299T>A)	gnomAD v4
3	g.184322006T>C	CA2732190	EIF2B5,EIF4G1	c.1422T>C (p.Ala474=) c.1356T>C (p.Ala452=) c.792T>C (p.Ala264=) c.834T>C (p.Ala278=) c.930T>C (p.Ala310=) c.1443T>C (p.Ala481=) c.1161T>C (p.Ala387=) c.1302T>C (p.Ala434=) c.929T>C (n.929T>C) c.1245T>C (p.Ala415=) c.861T>C (n.861T>C) c.2106+177299T>C (n.2106+177299T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322006T>G	CA437329635	EIF2B5,EIF4G1	c.1422T>G (p.Ala474=) c.1356T>G (p.Ala452=) c.792T>G (p.Ala264=) c.834T>G (p.Ala278=) c.930T>G (p.Ala310=) c.1443T>G (p.Ala481=) c.1161T>G (p.Ala387=) c.1302T>G (p.Ala434=) c.929T>G (n.929T>G) c.1245T>G (p.Ala415=) c.861T>G (n.861T>G) c.2106+177299T>G (n.2106+177299T>G)
3	g.184322006T=	CA1425953091	EIF2B5,EIF4G1	c.1422T= (p.Ala474=) c.1356T= (p.Ala452=) c.792T= (p.Ala264=) c.834T= (p.Ala278=) c.930T= (p.Ala310=) c.1443T= (p.Ala481=) c.1161T= (p.Ala387=) c.1302T= (p.Ala434=) c.929T= (n.929T=) c.1245T= (p.Ala415=) c.861T= (n.861T=) c.2106+177299T= (n.2106+177299T=)
3	g.184322007G>A	CA355390204	EIF2B5,EIF4G1	c.1423G>A (p.Glu475Lys) c.1357G>A (p.Glu453Lys) c.793G>A (p.Glu265Lys) c.835G>A (p.Glu279Lys) c.931G>A (p.Glu311Lys) c.1444G>A (p.Glu482Lys) c.1162G>A (p.Glu388Lys) c.1303G>A (p.Glu435Lys) c.930G>A (n.930G>A) c.1246G>A (p.Glu416Lys) c.862G>A (n.862G>A) c.2106+177300G>A (n.2106+177300G>A)	dbSNP gnomAD v2 gnomAD v4
3	g.184322007G>C	CA355390186	EIF2B5,EIF4G1	c.1423G>C (p.Glu475Gln) c.1357G>C (p.Glu453Gln) c.793G>C (p.Glu265Gln) c.835G>C (p.Glu279Gln) c.931G>C (p.Glu311Gln) c.1444G>C (p.Glu482Gln) c.1162G>C (p.Glu388Gln) c.1303G>C (p.Glu435Gln) c.930G>C (n.930G>C) c.1246G>C (p.Glu416Gln) c.862G>C (n.862G>C) c.2106+177300G>C (n.2106+177300G>C)	gnomAD v4
3	g.184322007G=	CA1425953095	EIF2B5,EIF4G1	c.1423G= (p.Glu475=) c.1357G= (p.Glu453=) c.793G= (p.Glu265=) c.835G= (p.Glu279=) c.931G= (p.Glu311=) c.1444G= (p.Glu482=) c.1162G= (p.Glu388=) c.1303G= (p.Glu435=) c.930G= (n.930G=) c.1246G= (p.Glu416=) c.862G= (n.862G=) c.2106+177300G= (n.2106+177300G=)
3	g.184322007G>T	CA355390183	EIF2B5,EIF4G1	c.1423G>T (p.Glu475Ter) c.1357G>T (p.Glu453Ter) c.793G>T (p.Glu265Ter) c.835G>T (p.Glu279Ter) c.931G>T (p.Glu311Ter) c.1444G>T (p.Glu482Ter) c.1162G>T (p.Glu388Ter) c.1303G>T (p.Glu435Ter) c.930G>T (n.930G>T) c.1246G>T (p.Glu416Ter) c.862G>T (n.862G>T) c.2106+177300G>T (n.2106+177300G>T)
3	g.184322008A=	CA1425953097	EIF2B5,EIF4G1	c.1424A= (p.Glu475=) c.1358A= (p.Glu453=) c.794A= (p.Glu265=) c.836A= (p.Glu279=) c.932A= (p.Glu311=) c.1445A= (p.Glu482=) c.1163A= (p.Glu388=) c.1304A= (p.Glu435=) c.931A= (n.931A=) c.1247A= (p.Glu416=) c.863A= (n.863A=) c.2106+177301A= (n.2106+177301A=)
3	g.184322008A>C	CA355390211	EIF2B5,EIF4G1	c.1424A>C (p.Glu475Ala) c.1358A>C (p.Glu453Ala) c.794A>C (p.Glu265Ala) c.836A>C (p.Glu279Ala) c.932A>C (p.Glu311Ala) c.1445A>C (p.Glu482Ala) c.1163A>C (p.Glu388Ala) c.1304A>C (p.Glu435Ala) c.931A>C (n.931A>C) c.1247A>C (p.Glu416Ala) c.863A>C (n.863A>C) c.2106+177301A>C (n.2106+177301A>C)
3	g.184322008A>G	CA355390217	EIF2B5,EIF4G1	c.1424A>G (p.Glu475Gly) c.1358A>G (p.Glu453Gly) c.794A>G (p.Glu265Gly) c.836A>G (p.Glu279Gly) c.932A>G (p.Glu311Gly) c.1445A>G (p.Glu482Gly) c.1163A>G (p.Glu388Gly) c.1304A>G (p.Glu435Gly) c.931A>G (n.931A>G) c.1247A>G (p.Glu416Gly) c.863A>G (n.863A>G) c.2106+177301A>G (n.2106+177301A>G)
3	g.184322008A>T	CA355390220	EIF2B5,EIF4G1	c.1424A>T (p.Glu475Val) c.1358A>T (p.Glu453Val) c.794A>T (p.Glu265Val) c.836A>T (p.Glu279Val) c.932A>T (p.Glu311Val) c.1445A>T (p.Glu482Val) c.1163A>T (p.Glu388Val) c.1304A>T (p.Glu435Val) c.931A>T (n.931A>T) c.1247A>T (p.Glu416Val) c.863A>T (n.863A>T) c.2106+177301A>T (n.2106+177301A>T)	dbSNP gnomAD v3 gnomAD v4
3	g.184322009G>A	CA88863420	EIF2B5,EIF4G1	c.1425G>A (p.Glu475=) c.1359G>A (p.Glu453=) c.795G>A (p.Glu265=) c.837G>A (p.Glu279=) c.933G>A (p.Glu311=) c.1446G>A (p.Glu482=) c.1164G>A (p.Glu388=) c.1305G>A (p.Glu435=) c.932G>A (n.932G>A) c.1248G>A (p.Glu416=) c.864G>A (n.864G>A) c.2106+177302G>A (n.2106+177302G>A)	dbSNP
3	g.184322009G>C	CA355390231	EIF2B5,EIF4G1	c.1425G>C (p.Glu475Asp) c.1359G>C (p.Glu453Asp) c.795G>C (p.Glu265Asp) c.837G>C (p.Glu279Asp) c.933G>C (p.Glu311Asp) c.1446G>C (p.Glu482Asp) c.1164G>C (p.Glu388Asp) c.1305G>C (p.Glu435Asp) c.932G>C (n.932G>C) c.1248G>C (p.Glu416Asp) c.864G>C (n.864G>C) c.2106+177302G>C (n.2106+177302G>C)
3	g.184322009G=	CA1425953100	EIF2B5,EIF4G1	c.1425G= (p.Glu475=) c.1359G= (p.Glu453=) c.795G= (p.Glu265=) c.837G= (p.Glu279=) c.933G= (p.Glu311=) c.1446G= (p.Glu482=) c.1164G= (p.Glu388=) c.1305G= (p.Glu435=) c.932G= (n.932G=) c.1248G= (p.Glu416=) c.864G= (n.864G=) c.2106+177302G= (n.2106+177302G=)
3	g.184322009G>T	CA355390257	EIF2B5,EIF4G1	c.1425G>T (p.Glu475Asp) c.1359G>T (p.Glu453Asp) c.795G>T (p.Glu265Asp) c.837G>T (p.Glu279Asp) c.933G>T (p.Glu311Asp) c.1446G>T (p.Glu482Asp) c.1164G>T (p.Glu388Asp) c.1305G>T (p.Glu435Asp) c.932G>T (n.932G>T) c.1248G>T (p.Glu416Asp) c.864G>T (n.864G>T) c.2106+177302G>T (n.2106+177302G>T)
3	g.184322010A>C	CA355390268	EIF2B5,EIF4G1	c.1426A>C (p.Ser476Arg) c.1360A>C (p.Ser454Arg) c.796A>C (p.Ser266Arg) c.838A>C (p.Ser280Arg) c.934A>C (p.Ser312Arg) c.1447A>C (p.Ser483Arg) c.1165A>C (p.Ser389Arg) c.1306A>C (p.Ser436Arg) c.933A>C (n.933A>C) c.1249A>C (p.Ser417Arg) c.865A>C (n.865A>C) c.2106+177303A>C (n.2106+177303A>C)
3	g.184322010A>G	CA355390271	EIF2B5,EIF4G1	c.1426A>G (p.Ser476Gly) c.1360A>G (p.Ser454Gly) c.796A>G (p.Ser266Gly) c.838A>G (p.Ser280Gly) c.934A>G (p.Ser312Gly) c.1447A>G (p.Ser483Gly) c.1165A>G (p.Ser389Gly) c.1306A>G (p.Ser436Gly) c.933A>G (n.933A>G) c.1249A>G (p.Ser417Gly) c.865A>G (n.865A>G) c.2106+177303A>G (n.2106+177303A>G)
3	g.184322010A>T	CA355390273	EIF2B5,EIF4G1	c.1426A>T (p.Ser476Cys) c.1360A>T (p.Ser454Cys) c.796A>T (p.Ser266Cys) c.838A>T (p.Ser280Cys) c.934A>T (p.Ser312Cys) c.1447A>T (p.Ser483Cys) c.1165A>T (p.Ser389Cys) c.1306A>T (p.Ser436Cys) c.933A>T (n.933A>T) c.1249A>T (p.Ser417Cys) c.865A>T (n.865A>T) c.2106+177303A>T (n.2106+177303A>T)
3	g.184322011G>A	CA355390279	EIF2B5,EIF4G1	c.1427G>A (p.Ser476Asn) c.1361G>A (p.Ser454Asn) c.797G>A (p.Ser266Asn) c.839G>A (p.Ser280Asn) c.935G>A (p.Ser312Asn) c.1448G>A (p.Ser483Asn) c.1166G>A (p.Ser389Asn) c.1307G>A (p.Ser436Asn) c.934G>A (n.934G>A) c.1250G>A (p.Ser417Asn) c.866G>A (n.866G>A) c.2106+177304G>A (n.2106+177304G>A)
3	g.184322011G>C	CA355390282	EIF2B5,EIF4G1	c.1427G>C (p.Ser476Thr) c.1361G>C (p.Ser454Thr) c.797G>C (p.Ser266Thr) c.839G>C (p.Ser280Thr) c.935G>C (p.Ser312Thr) c.1448G>C (p.Ser483Thr) c.1166G>C (p.Ser389Thr) c.1307G>C (p.Ser436Thr) c.934G>C (n.934G>C) c.1250G>C (p.Ser417Thr) c.866G>C (n.866G>C) c.2106+177304G>C (n.2106+177304G>C)	dbSNP
3	g.184322011G=	CA1425953103	EIF2B5,EIF4G1	c.1427G= (p.Ser476=) c.1361G= (p.Ser454=) c.797G= (p.Ser266=) c.839G= (p.Ser280=) c.935G= (p.Ser312=) c.1448G= (p.Ser483=) c.1166G= (p.Ser389=) c.1307G= (p.Ser436=) c.934G= (n.934G=) c.1250G= (p.Ser417=) c.866G= (n.866G=) c.2106+177304G= (n.2106+177304G=)
3	g.184322011G>T	CA355390287	EIF2B5,EIF4G1	c.1427G>T (p.Ser476Ile) c.1361G>T (p.Ser454Ile) c.797G>T (p.Ser266Ile) c.839G>T (p.Ser280Ile) c.935G>T (p.Ser312Ile) c.1448G>T (p.Ser483Ile) c.1166G>T (p.Ser389Ile) c.1307G>T (p.Ser436Ile) c.934G>T (n.934G>T) c.1250G>T (p.Ser417Ile) c.866G>T (n.866G>T) c.2106+177304G>T (n.2106+177304G>T)
3	g.184322012T>A	CA355390300	EIF2B5,EIF4G1	c.1428T>A (p.Ser476Arg) c.1362T>A (p.Ser454Arg) c.798T>A (p.Ser266Arg) c.840T>A (p.Ser280Arg) c.936T>A (p.Ser312Arg) c.1449T>A (p.Ser483Arg) c.1167T>A (p.Ser389Arg) c.1308T>A (p.Ser436Arg) c.935T>A (n.935T>A) c.1251T>A (p.Ser417Arg) c.867T>A (n.867T>A) c.2106+177305T>A (n.2106+177305T>A)	gnomAD v4
3	g.184322012T>C	CA437329641	EIF2B5,EIF4G1	c.1428T>C (p.Ser476=) c.1362T>C (p.Ser454=) c.798T>C (p.Ser266=) c.840T>C (p.Ser280=) c.936T>C (p.Ser312=) c.1449T>C (p.Ser483=) c.1167T>C (p.Ser389=) c.1308T>C (p.Ser436=) c.935T>C (n.935T>C) c.1251T>C (p.Ser417=) c.867T>C (n.867T>C) c.2106+177305T>C (n.2106+177305T>C)
3	g.184322012T>G	CA355390303	EIF2B5,EIF4G1	c.1428T>G (p.Ser476Arg) c.1362T>G (p.Ser454Arg) c.798T>G (p.Ser266Arg) c.840T>G (p.Ser280Arg) c.936T>G (p.Ser312Arg) c.1449T>G (p.Ser483Arg) c.1167T>G (p.Ser389Arg) c.1308T>G (p.Ser436Arg) c.935T>G (n.935T>G) c.1251T>G (p.Ser417Arg) c.867T>G (n.867T>G) c.2106+177305T>G (n.2106+177305T>G)
3	g.184322013G>A	CA2732191	EIF2B5,EIF4G1	c.1429G>A (p.Glu477Lys) c.1363G>A (p.Glu455Lys) c.799G>A (p.Glu267Lys) c.841G>A (p.Glu281Lys) c.937G>A (p.Glu313Lys) c.1450G>A (p.Glu484Lys) c.1168G>A (p.Glu390Lys) c.1309G>A (p.Glu437Lys) c.936G>A (n.936G>A) c.1252G>A (p.Glu418Lys) c.868G>A (n.868G>A) c.2106+177306G>A (n.2106+177306G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322013G>C	CA88863422	EIF2B5,EIF4G1	c.1429G>C (p.Glu477Gln) c.1363G>C (p.Glu455Gln) c.799G>C (p.Glu267Gln) c.841G>C (p.Glu281Gln) c.937G>C (p.Glu313Gln) c.1450G>C (p.Glu484Gln) c.1168G>C (p.Glu390Gln) c.1309G>C (p.Glu437Gln) c.936G>C (n.936G>C) c.1252G>C (p.Glu418Gln) c.868G>C (n.868G>C) c.2106+177306G>C (n.2106+177306G>C)	dbSNP
3	g.184322013G=	CA1425953105	EIF2B5,EIF4G1	c.1429G= (p.Glu477=) c.1363G= (p.Glu455=) c.799G= (p.Glu267=) c.841G= (p.Glu281=) c.937G= (p.Glu313=) c.1450G= (p.Glu484=) c.1168G= (p.Glu390=) c.1309G= (p.Glu437=) c.936G= (n.936G=) c.1252G= (p.Glu418=) c.868G= (n.868G=) c.2106+177306G= (n.2106+177306G=)
3	g.184322013G>T	CA355390313	EIF2B5,EIF4G1	c.1429G>T (p.Glu477Ter) c.1363G>T (p.Glu455Ter) c.799G>T (p.Glu267Ter) c.841G>T (p.Glu281Ter) c.937G>T (p.Glu313Ter) c.1450G>T (p.Glu484Ter) c.1168G>T (p.Glu390Ter) c.1309G>T (p.Glu437Ter) c.936G>T (n.936G>T) c.1252G>T (p.Glu418Ter) c.868G>T (n.868G>T) c.2106+177306G>T (n.2106+177306G>T)
3	g.184322014A>C	CA355390328	EIF2B5,EIF4G1	c.1430A>C (p.Glu477Ala) c.1364A>C (p.Glu455Ala) c.800A>C (p.Glu267Ala) c.842A>C (p.Glu281Ala) c.938A>C (p.Glu313Ala) c.1451A>C (p.Glu484Ala) c.1169A>C (p.Glu390Ala) c.1310A>C (p.Glu437Ala) c.937A>C (n.937A>C) c.1253A>C (p.Glu418Ala) c.869A>C (n.869A>C) c.2106+177307A>C (n.2106+177307A>C)	gnomAD v4
3	g.184322014A>G	CA355390334	EIF2B5,EIF4G1	c.1430A>G (p.Glu477Gly) c.1364A>G (p.Glu455Gly) c.800A>G (p.Glu267Gly) c.842A>G (p.Glu281Gly) c.938A>G (p.Glu313Gly) c.1451A>G (p.Glu484Gly) c.1169A>G (p.Glu390Gly) c.1310A>G (p.Glu437Gly) c.937A>G (n.937A>G) c.1253A>G (p.Glu418Gly) c.869A>G (n.869A>G) c.2106+177307A>G (n.2106+177307A>G)	gnomAD v4
3	g.184322014A>T	CA355390332	EIF2B5,EIF4G1	c.1430A>T (p.Glu477Val) c.1364A>T (p.Glu455Val) c.800A>T (p.Glu267Val) c.842A>T (p.Glu281Val) c.938A>T (p.Glu313Val) c.1451A>T (p.Glu484Val) c.1169A>T (p.Glu390Val) c.1310A>T (p.Glu437Val) c.937A>T (n.937A>T) c.1253A>T (p.Glu418Val) c.869A>T (n.869A>T) c.2106+177307A>T (n.2106+177307A>T)
3	g.184322015G>A	CA437329644	EIF2B5,EIF4G1	c.1431G>A (p.Glu477=) c.1365G>A (p.Glu455=) c.801G>A (p.Glu267=) c.843G>A (p.Glu281=) c.939G>A (p.Glu313=) c.1452G>A (p.Glu484=) c.1170G>A (p.Glu390=) c.1311G>A (p.Glu437=) c.938G>A (n.938G>A) c.1254G>A (p.Glu418=) c.870G>A (n.870G>A) c.2106+177308G>A (n.2106+177308G>A)
3	g.184322015G>C	CA355390340	EIF2B5,EIF4G1	c.1431G>C (p.Glu477Asp) c.1365G>C (p.Glu455Asp) c.801G>C (p.Glu267Asp) c.843G>C (p.Glu281Asp) c.939G>C (p.Glu313Asp) c.1452G>C (p.Glu484Asp) c.1170G>C (p.Glu390Asp) c.1311G>C (p.Glu437Asp) c.938G>C (n.938G>C) c.1254G>C (p.Glu418Asp) c.870G>C (n.870G>C) c.2106+177308G>C (n.2106+177308G>C)
3	g.184322015G>T	CA355390345	EIF2B5,EIF4G1	c.1431G>T (p.Glu477Asp) c.1365G>T (p.Glu455Asp) c.801G>T (p.Glu267Asp) c.843G>T (p.Glu281Asp) c.939G>T (p.Glu313Asp) c.1452G>T (p.Glu484Asp) c.1170G>T (p.Glu390Asp) c.1311G>T (p.Glu437Asp) c.938G>T (n.938G>T) c.1254G>T (p.Glu418Asp) c.870G>T (n.870G>T) c.2106+177308G>T (n.2106+177308G>T)
3	g.184322016A>C	CA355390352	EIF2B5,EIF4G1	c.1432A>C (p.Lys478Gln) c.1366A>C (p.Lys456Gln) c.802A>C (p.Lys268Gln) c.844A>C (p.Lys282Gln) c.940A>C (p.Lys314Gln) c.1453A>C (p.Lys485Gln) c.1171A>C (p.Lys391Gln) c.1312A>C (p.Lys438Gln) c.939A>C (n.939A>C) c.1255A>C (p.Lys419Gln) c.871A>C (n.871A>C) c.2106+177309A>C (n.2106+177309A>C)
3	g.184322016A>G	CA355390356	EIF2B5,EIF4G1	c.1432A>G (p.Lys478Glu) c.1366A>G (p.Lys456Glu) c.802A>G (p.Lys268Glu) c.844A>G (p.Lys282Glu) c.940A>G (p.Lys314Glu) c.1453A>G (p.Lys485Glu) c.1171A>G (p.Lys391Glu) c.1312A>G (p.Lys438Glu) c.939A>G (n.939A>G) c.1255A>G (p.Lys419Glu) c.871A>G (n.871A>G) c.2106+177309A>G (n.2106+177309A>G)
3	g.184322016A>T	CA355390359	EIF2B5,EIF4G1	c.1432A>T (p.Lys478Ter) c.1366A>T (p.Lys456Ter) c.802A>T (p.Lys268Ter) c.844A>T (p.Lys282Ter) c.940A>T (p.Lys314Ter) c.1453A>T (p.Lys485Ter) c.1171A>T (p.Lys391Ter) c.1312A>T (p.Lys438Ter) c.939A>T (n.939A>T) c.1255A>T (p.Lys419Ter) c.871A>T (n.871A>T) c.2106+177309A>T (n.2106+177309A>T)
3	g.184322017A>C	CA355390368	EIF2B5,EIF4G1	c.1433A>C (p.Lys478Thr) c.1367A>C (p.Lys456Thr) c.803A>C (p.Lys268Thr) c.845A>C (p.Lys282Thr) c.941A>C (p.Lys314Thr) c.1454A>C (p.Lys485Thr) c.1172A>C (p.Lys391Thr) c.1313A>C (p.Lys438Thr) c.940A>C (n.940A>C) c.1256A>C (p.Lys419Thr) c.872A>C (n.872A>C) c.2106+177310A>C (n.2106+177310A>C)
3	g.184322017A>G	CA355390370	EIF2B5,EIF4G1	c.1433A>G (p.Lys478Arg) c.1367A>G (p.Lys456Arg) c.803A>G (p.Lys268Arg) c.845A>G (p.Lys282Arg) c.941A>G (p.Lys314Arg) c.1454A>G (p.Lys485Arg) c.1172A>G (p.Lys391Arg) c.1313A>G (p.Lys438Arg) c.940A>G (n.940A>G) c.1256A>G (p.Lys419Arg) c.872A>G (n.872A>G) c.2106+177310A>G (n.2106+177310A>G)	gnomAD v4
3	g.184322017A>T	CA355390372	EIF2B5,EIF4G1	c.1433A>T (p.Lys478Ile) c.1367A>T (p.Lys456Ile) c.803A>T (p.Lys268Ile) c.845A>T (p.Lys282Ile) c.941A>T (p.Lys314Ile) c.1454A>T (p.Lys485Ile) c.1172A>T (p.Lys391Ile) c.1313A>T (p.Lys438Ile) c.940A>T (n.940A>T) c.1256A>T (p.Lys419Ile) c.872A>T (n.872A>T) c.2106+177310A>T (n.2106+177310A>T)
3	g.184322017_184322020delinsAAGG	CA1425953107	EIF2B5,EIF4G1	c.1433_1436delinsAAGG (p.Lys478=) c.1367_1370delinsAAGG (p.Lys456=) c.803_806delinsAAGG (p.Lys268=) c.845_848delinsAAGG (p.Lys282=) c.941_944delinsAAGG (p.Lys314=) c.1454_1457delinsAAGG (p.Lys485=) c.1172_1175delinsAAGG (p.Lys391=) c.1313_1316delinsAAGG (p.Lys438=) c.940_943delinsAAGG (n.940_943delinsAAGG) c.1256_1259delinsAAGG (p.Lys419=) c.872_875delinsAAGG (n.872_875delinsAAGG) c.2106+177310_2106+177313delinsAAGG (n.2106+177310_2106+177313delinsAAGG)
3	g.184322018A>C	CA355390374	EIF2B5,EIF4G1	c.1434A>C (p.Lys478Asn) c.1368A>C (p.Lys456Asn) c.804A>C (p.Lys268Asn) c.846A>C (p.Lys282Asn) c.942A>C (p.Lys314Asn) c.1455A>C (p.Lys485Asn) c.1173A>C (p.Lys391Asn) c.1314A>C (p.Lys438Asn) c.941A>C (n.941A>C) c.1257A>C (p.Lys419Asn) c.873A>C (n.873A>C) c.2106+177311A>C (n.2106+177311A>C)
3	g.184322018A>G	CA437329648	EIF2B5,EIF4G1	c.1434A>G (p.Lys478=) c.1368A>G (p.Lys456=) c.804A>G (p.Lys268=) c.846A>G (p.Lys282=) c.942A>G (p.Lys314=) c.1455A>G (p.Lys485=) c.1173A>G (p.Lys391=) c.1314A>G (p.Lys438=) c.941A>G (n.941A>G) c.1257A>G (p.Lys419=) c.873A>G (n.873A>G) c.2106+177311A>G (n.2106+177311A>G)	gnomAD v4
3	g.184322018A>T	CA355390377	EIF2B5,EIF4G1	c.1434A>T (p.Lys478Asn) c.1368A>T (p.Lys456Asn) c.804A>T (p.Lys268Asn) c.846A>T (p.Lys282Asn) c.942A>T (p.Lys314Asn) c.1455A>T (p.Lys485Asn) c.1173A>T (p.Lys391Asn) c.1314A>T (p.Lys438Asn) c.941A>T (n.941A>T) c.1257A>T (p.Lys419Asn) c.873A>T (n.873A>T) c.2106+177311A>T (n.2106+177311A>T)
3	g.184322023_184322025del	CA548795501	EIF2B5,EIF4G1	c.1439_1441del (p.Gly480del) c.1373_1375del (p.Gly458del) c.809_811del (p.Gly270del) c.851_853del (p.Gly284del) c.947_949del (p.Gly316del) c.1460_1462del (p.Gly487del) c.1178_1180del (p.Gly393del) c.1319_1321del (p.Gly440del) c.946_948del (n.946_948del) c.1262_1264del (p.Gly421del) c.878_880del (n.878_880del) c.2106+177316_2106+177318del (n.2106+177316_2106+177318del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.184322019G>A	CA355390382	EIF2B5,EIF4G1	c.1435G>A (p.Gly479Arg) c.1369G>A (p.Gly457Arg) c.805G>A (p.Gly269Arg) c.847G>A (p.Gly283Arg) c.943G>A (p.Gly315Arg) c.1456G>A (p.Gly486Arg) c.1174G>A (p.Gly392Arg) c.1315G>A (p.Gly439Arg) c.942G>A (n.942G>A) c.1258G>A (p.Gly420Arg) c.874G>A (n.874G>A) c.2106+177312G>A (n.2106+177312G>A)
3	g.184322019G>C	CA355390386	EIF2B5,EIF4G1	c.1435G>C (p.Gly479Arg) c.1369G>C (p.Gly457Arg) c.805G>C (p.Gly269Arg) c.847G>C (p.Gly283Arg) c.943G>C (p.Gly315Arg) c.1456G>C (p.Gly486Arg) c.1174G>C (p.Gly392Arg) c.1315G>C (p.Gly439Arg) c.942G>C (n.942G>C) c.1258G>C (p.Gly420Arg) c.874G>C (n.874G>C) c.2106+177312G>C (n.2106+177312G>C)
3	g.184322019G>T	CA355390389	EIF2B5,EIF4G1	c.1435G>T (p.Gly479Ter) c.1369G>T (p.Gly457Ter) c.805G>T (p.Gly269Ter) c.847G>T (p.Gly283Ter) c.943G>T (p.Gly315Ter) c.1456G>T (p.Gly486Ter) c.1174G>T (p.Gly392Ter) c.1315G>T (p.Gly439Ter) c.942G>T (n.942G>T) c.1258G>T (p.Gly420Ter) c.874G>T (n.874G>T) c.2106+177312G>T (n.2106+177312G>T)
3	g.184322020G>A	CA355390405	EIF2B5,EIF4G1	c.1436G>A (p.Gly479Glu) c.1370G>A (p.Gly457Glu) c.806G>A (p.Gly269Glu) c.848G>A (p.Gly283Glu) c.944G>A (p.Gly315Glu) c.1457G>A (p.Gly486Glu) c.1175G>A (p.Gly392Glu) c.1316G>A (p.Gly439Glu) c.943G>A (n.943G>A) c.1259G>A (p.Gly420Glu) c.875G>A (n.875G>A) c.2106+177313G>A (n.2106+177313G>A)
3	g.184322020G>C	CA355390401	EIF2B5,EIF4G1	c.1436G>C (p.Gly479Ala) c.1370G>C (p.Gly457Ala) c.806G>C (p.Gly269Ala) c.848G>C (p.Gly283Ala) c.944G>C (p.Gly315Ala) c.1457G>C (p.Gly486Ala) c.1175G>C (p.Gly392Ala) c.1316G>C (p.Gly439Ala) c.943G>C (n.943G>C) c.1259G>C (p.Gly420Ala) c.875G>C (n.875G>C) c.2106+177313G>C (n.2106+177313G>C)
3	g.184322020G=	CA1425953111	EIF2B5,EIF4G1	c.1436G= (p.Gly479=) c.1370G= (p.Gly457=) c.806G= (p.Gly269=) c.848G= (p.Gly283=) c.944G= (p.Gly315=) c.1457G= (p.Gly486=) c.1175G= (p.Gly392=) c.1316G= (p.Gly439=) c.943G= (n.943G=) c.1259G= (p.Gly420=) c.875G= (n.875G=) c.2106+177313G= (n.2106+177313G=)
3	g.184322020G>T	CA355390399	EIF2B5,EIF4G1	c.1436G>T (p.Gly479Val) c.1370G>T (p.Gly457Val) c.806G>T (p.Gly269Val) c.848G>T (p.Gly283Val) c.944G>T (p.Gly315Val) c.1457G>T (p.Gly486Val) c.1175G>T (p.Gly392Val) c.1316G>T (p.Gly439Val) c.943G>T (n.943G>T) c.1259G>T (p.Gly420Val) c.875G>T (n.875G>T) c.2106+177313G>T (n.2106+177313G>T)	dbSNP gnomAD v4 COSMIC
3	g.184322021A=	CA1425953114	EIF2B5,EIF4G1	c.1437A= (p.Gly479=) c.1371A= (p.Gly457=) c.807A= (p.Gly269=) c.849A= (p.Gly283=) c.945A= (p.Gly315=) c.1458A= (p.Gly486=) c.1176A= (p.Gly392=) c.1317A= (p.Gly439=) c.944A= (n.944A=) c.1260A= (p.Gly420=) c.876A= (n.876A=) c.2106+177314A= (n.2106+177314A=)
3	g.184322021A>C	CA437329651	EIF2B5,EIF4G1	c.1437A>C (p.Gly479=) c.1371A>C (p.Gly457=) c.807A>C (p.Gly269=) c.849A>C (p.Gly283=) c.945A>C (p.Gly315=) c.1458A>C (p.Gly486=) c.1176A>C (p.Gly392=) c.1317A>C (p.Gly439=) c.944A>C (n.944A>C) c.1260A>C (p.Gly420=) c.876A>C (n.876A>C) c.2106+177314A>C (n.2106+177314A>C)
3	g.184322021A>G	CA437329653	EIF2B5,EIF4G1	c.1437A>G (p.Gly479=) c.1371A>G (p.Gly457=) c.807A>G (p.Gly269=) c.849A>G (p.Gly283=) c.945A>G (p.Gly315=) c.1458A>G (p.Gly486=) c.1176A>G (p.Gly392=) c.1317A>G (p.Gly439=) c.944A>G (n.944A>G) c.1260A>G (p.Gly420=) c.876A>G (n.876A>G) c.2106+177314A>G (n.2106+177314A>G)	gnomAD v4
3	g.184322021A>T	CA437329655	EIF2B5,EIF4G1	c.1437A>T (p.Gly479=) c.1371A>T (p.Gly457=) c.807A>T (p.Gly269=) c.849A>T (p.Gly283=) c.945A>T (p.Gly315=) c.1458A>T (p.Gly486=) c.1176A>T (p.Gly392=) c.1317A>T (p.Gly439=) c.944A>T (n.944A>T) c.1260A>T (p.Gly420=) c.876A>T (n.876A>T) c.2106+177314A>T (n.2106+177314A>T)	dbSNP gnomAD v2
3	g.184322022G>A	CA355390409	EIF2B5,EIF4G1	c.1438G>A (p.Gly480Arg) c.1372G>A (p.Gly458Arg) c.808G>A (p.Gly270Arg) c.850G>A (p.Gly284Arg) c.946G>A (p.Gly316Arg) c.1459G>A (p.Gly487Arg) c.1177G>A (p.Gly393Arg) c.1318G>A (p.Gly440Arg) c.945G>A (n.945G>A) c.1261G>A (p.Gly421Arg) c.877G>A (n.877G>A) c.2106+177315G>A (n.2106+177315G>A)
3	g.184322022G>C	CA355390418	EIF2B5,EIF4G1	c.1438G>C (p.Gly480Arg) c.1372G>C (p.Gly458Arg) c.808G>C (p.Gly270Arg) c.850G>C (p.Gly284Arg) c.946G>C (p.Gly316Arg) c.1459G>C (p.Gly487Arg) c.1177G>C (p.Gly393Arg) c.1318G>C (p.Gly440Arg) c.945G>C (n.945G>C) c.1261G>C (p.Gly421Arg) c.877G>C (n.877G>C) c.2106+177315G>C (n.2106+177315G>C)
3	g.184322022G>T	CA355390424	EIF2B5,EIF4G1	c.1438G>T (p.Gly480Ter) c.1372G>T (p.Gly458Ter) c.808G>T (p.Gly270Ter) c.850G>T (p.Gly284Ter) c.946G>T (p.Gly316Ter) c.1459G>T (p.Gly487Ter) c.1177G>T (p.Gly393Ter) c.1318G>T (p.Gly440Ter) c.945G>T (n.945G>T) c.1261G>T (p.Gly421Ter) c.877G>T (n.877G>T) c.2106+177315G>T (n.2106+177315G>T)
3	g.184322023G>A	CA2732192	EIF2B5,EIF4G1	c.1439G>A (p.Gly480Glu) c.1373G>A (p.Gly458Glu) c.809G>A (p.Gly270Glu) c.851G>A (p.Gly284Glu) c.947G>A (p.Gly316Glu) c.1460G>A (p.Gly487Glu) c.1178G>A (p.Gly393Glu) c.1319G>A (p.Gly440Glu) c.946G>A (n.946G>A) c.1262G>A (p.Gly421Glu) c.878G>A (n.878G>A) c.2106+177316G>A (n.2106+177316G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322023G>C	CA355390425	EIF2B5,EIF4G1	c.1439G>C (p.Gly480Ala) c.1373G>C (p.Gly458Ala) c.809G>C (p.Gly270Ala) c.851G>C (p.Gly284Ala) c.947G>C (p.Gly316Ala) c.1460G>C (p.Gly487Ala) c.1178G>C (p.Gly393Ala) c.1319G>C (p.Gly440Ala) c.946G>C (n.946G>C) c.1262G>C (p.Gly421Ala) c.878G>C (n.878G>C) c.2106+177316G>C (n.2106+177316G>C)
3	g.184322023G=	CA1425953115	EIF2B5,EIF4G1	c.1439G= (p.Gly480=) c.1373G= (p.Gly458=) c.809G= (p.Gly270=) c.851G= (p.Gly284=) c.947G= (p.Gly316=) c.1460G= (p.Gly487=) c.1178G= (p.Gly393=) c.1319G= (p.Gly440=) c.946G= (n.946G=) c.1262G= (p.Gly421=) c.878G= (n.878G=) c.2106+177316G= (n.2106+177316G=)
3	g.184322023G>T	CA355390427	EIF2B5,EIF4G1	c.1439G>T (p.Gly480Val) c.1373G>T (p.Gly458Val) c.809G>T (p.Gly270Val) c.851G>T (p.Gly284Val) c.947G>T (p.Gly316Val) c.1460G>T (p.Gly487Val) c.1178G>T (p.Gly393Val) c.1319G>T (p.Gly440Val) c.946G>T (n.946G>T) c.1262G>T (p.Gly421Val) c.878G>T (n.878G>T) c.2106+177316G>T (n.2106+177316G>T)
3	g.184322024A>C	CA437329657	EIF2B5,EIF4G1	c.1440A>C (p.Gly480=) c.1374A>C (p.Gly458=) c.810A>C (p.Gly270=) c.852A>C (p.Gly284=) c.948A>C (p.Gly316=) c.1461A>C (p.Gly487=) c.1179A>C (p.Gly393=) c.1320A>C (p.Gly440=) c.947A>C (n.947A>C) c.1263A>C (p.Gly421=) c.879A>C (n.879A>C) c.2106+177317A>C (n.2106+177317A>C)
3	g.184322024A>G	CA437329659	EIF2B5,EIF4G1	c.1440A>G (p.Gly480=) c.1374A>G (p.Gly458=) c.810A>G (p.Gly270=) c.852A>G (p.Gly284=) c.948A>G (p.Gly316=) c.1461A>G (p.Gly487=) c.1179A>G (p.Gly393=) c.1320A>G (p.Gly440=) c.947A>G (n.947A>G) c.1263A>G (p.Gly421=) c.879A>G (n.879A>G) c.2106+177317A>G (n.2106+177317A>G)
3	g.184322024A>T	CA437329661	EIF2B5,EIF4G1	c.1440A>T (p.Gly480=) c.1374A>T (p.Gly458=) c.810A>T (p.Gly270=) c.852A>T (p.Gly284=) c.948A>T (p.Gly316=) c.1461A>T (p.Gly487=) c.1179A>T (p.Gly393=) c.1320A>T (p.Gly440=) c.947A>T (n.947A>T) c.1263A>T (p.Gly421=) c.879A>T (n.879A>T) c.2106+177317A>T (n.2106+177317A>T)
3	g.184322025G>A	CA355390429	EIF2B5,EIF4G1	c.1441G>A (p.Glu481Lys) c.1375G>A (p.Glu459Lys) c.811G>A (p.Glu271Lys) c.853G>A (p.Glu285Lys) c.949G>A (p.Glu317Lys) c.1462G>A (p.Glu488Lys) c.1180G>A (p.Glu394Lys) c.1321G>A (p.Glu441Lys) c.948G>A (n.948G>A) c.1264G>A (p.Glu422Lys) c.880G>A (n.880G>A) c.2106+177318G>A (n.2106+177318G>A)
3	g.184322025G>C	CA355390430	EIF2B5,EIF4G1	c.1441G>C (p.Glu481Gln) c.1375G>C (p.Glu459Gln) c.811G>C (p.Glu271Gln) c.853G>C (p.Glu285Gln) c.949G>C (p.Glu317Gln) c.1462G>C (p.Glu488Gln) c.1180G>C (p.Glu394Gln) c.1321G>C (p.Glu441Gln) c.948G>C (n.948G>C) c.1264G>C (p.Glu422Gln) c.880G>C (n.880G>C) c.2106+177318G>C (n.2106+177318G>C)
3	g.184322025G>T	CA355390434	EIF2B5,EIF4G1	c.1441G>T (p.Glu481Ter) c.1375G>T (p.Glu459Ter) c.811G>T (p.Glu271Ter) c.853G>T (p.Glu285Ter) c.949G>T (p.Glu317Ter) c.1462G>T (p.Glu488Ter) c.1180G>T (p.Glu394Ter) c.1321G>T (p.Glu441Ter) c.948G>T (n.948G>T) c.1264G>T (p.Glu422Ter) c.880G>T (n.880G>T) c.2106+177318G>T (n.2106+177318G>T)
3	g.184322026A>C	CA355390439	EIF2B5,EIF4G1	c.1442A>C (p.Glu481Ala) c.1376A>C (p.Glu459Ala) c.812A>C (p.Glu271Ala) c.854A>C (p.Glu285Ala) c.950A>C (p.Glu317Ala) c.1463A>C (p.Glu488Ala) c.1181A>C (p.Glu394Ala) c.1322A>C (p.Glu441Ala) c.949A>C (n.949A>C) c.1265A>C (p.Glu422Ala) c.881A>C (n.881A>C) c.2106+177319A>C (n.2106+177319A>C)
3	g.184322026A>G	CA355390446	EIF2B5,EIF4G1	c.1442A>G (p.Glu481Gly) c.1376A>G (p.Glu459Gly) c.812A>G (p.Glu271Gly) c.854A>G (p.Glu285Gly) c.950A>G (p.Glu317Gly) c.1463A>G (p.Glu488Gly) c.1181A>G (p.Glu394Gly) c.1322A>G (p.Glu441Gly) c.949A>G (n.949A>G) c.1265A>G (p.Glu422Gly) c.881A>G (n.881A>G) c.2106+177319A>G (n.2106+177319A>G)
3	g.184322026A>T	CA355390450	EIF2B5,EIF4G1	c.1442A>T (p.Glu481Val) c.1376A>T (p.Glu459Val) c.812A>T (p.Glu271Val) c.854A>T (p.Glu285Val) c.950A>T (p.Glu317Val) c.1463A>T (p.Glu488Val) c.1181A>T (p.Glu394Val) c.1322A>T (p.Glu441Val) c.949A>T (n.949A>T) c.1265A>T (p.Glu422Val) c.881A>T (n.881A>T) c.2106+177319A>T (n.2106+177319A>T)
3	g.184322027G>A	CA437329662	EIF2B5,EIF4G1	c.1443G>A (p.Glu481=) c.1377G>A (p.Glu459=) c.813G>A (p.Glu271=) c.855G>A (p.Glu285=) c.951G>A (p.Glu317=) c.1464G>A (p.Glu488=) c.1182G>A (p.Glu394=) c.1323G>A (p.Glu441=) c.950G>A (n.950G>A) c.1266G>A (p.Glu422=) c.882G>A (n.882G>A) c.2106+177320G>A (n.2106+177320G>A)
3	g.184322027G>C	CA355390455	EIF2B5,EIF4G1	c.1443G>C (p.Glu481Asp) c.1377G>C (p.Glu459Asp) c.813G>C (p.Glu271Asp) c.855G>C (p.Glu285Asp) c.951G>C (p.Glu317Asp) c.1464G>C (p.Glu488Asp) c.1182G>C (p.Glu394Asp) c.1323G>C (p.Glu441Asp) c.950G>C (n.950G>C) c.1266G>C (p.Glu422Asp) c.882G>C (n.882G>C) c.2106+177320G>C (n.2106+177320G>C)
3	g.184322027G>T	CA355390451	EIF2B5,EIF4G1	c.1443G>T (p.Glu481Asp) c.1377G>T (p.Glu459Asp) c.813G>T (p.Glu271Asp) c.855G>T (p.Glu285Asp) c.951G>T (p.Glu317Asp) c.1464G>T (p.Glu488Asp) c.1182G>T (p.Glu394Asp) c.1323G>T (p.Glu441Asp) c.950G>T (n.950G>T) c.1266G>T (p.Glu422Asp) c.882G>T (n.882G>T) c.2106+177320G>T (n.2106+177320G>T)
3	g.184322028G>A	CA355390463	EIF2B5,EIF4G1	c.1444G>A (p.Glu482Lys) c.1378G>A (p.Glu460Lys) c.814G>A (p.Glu272Lys) c.856G>A (p.Glu286Lys) c.952G>A (p.Glu318Lys) c.1465G>A (p.Glu489Lys) c.1183G>A (p.Glu395Lys) c.1324G>A (p.Glu442Lys) c.951G>A (n.951G>A) c.1267G>A (p.Glu423Lys) c.883G>A (n.883G>A) c.2106+177321G>A (n.2106+177321G>A)	dbSNP gnomAD v4
3	g.184322028G>C	CA88863427	EIF2B5,EIF4G1	c.1444G>C (p.Glu482Gln) c.1378G>C (p.Glu460Gln) c.814G>C (p.Glu272Gln) c.856G>C (p.Glu286Gln) c.952G>C (p.Glu318Gln) c.1465G>C (p.Glu489Gln) c.1183G>C (p.Glu395Gln) c.1324G>C (p.Glu442Gln) c.951G>C (n.951G>C) c.1267G>C (p.Glu423Gln) c.883G>C (n.883G>C) c.2106+177321G>C (n.2106+177321G>C)	dbSNP gnomAD v2 gnomAD v4
3	g.184322028G=	CA1425953117	EIF2B5,EIF4G1	c.1444G= (p.Glu482=) c.1378G= (p.Glu460=) c.814G= (p.Glu272=) c.856G= (p.Glu286=) c.952G= (p.Glu318=) c.1465G= (p.Glu489=) c.1183G= (p.Glu395=) c.1324G= (p.Glu442=) c.951G= (n.951G=) c.1267G= (p.Glu423=) c.883G= (n.883G=) c.2106+177321G= (n.2106+177321G=)
3	g.184322028G>T	CA355390465	EIF2B5,EIF4G1	c.1444G>T (p.Glu482Ter) c.1378G>T (p.Glu460Ter) c.814G>T (p.Glu272Ter) c.856G>T (p.Glu286Ter) c.952G>T (p.Glu318Ter) c.1465G>T (p.Glu489Ter) c.1183G>T (p.Glu395Ter) c.1324G>T (p.Glu442Ter) c.951G>T (n.951G>T) c.1267G>T (p.Glu423Ter) c.883G>T (n.883G>T) c.2106+177321G>T (n.2106+177321G>T)
3	g.184322029A>C	CA355390475	EIF2B5,EIF4G1	c.1445A>C (p.Glu482Ala) c.1379A>C (p.Glu460Ala) c.815A>C (p.Glu272Ala) c.857A>C (p.Glu286Ala) c.953A>C (p.Glu318Ala) c.1466A>C (p.Glu489Ala) c.1184A>C (p.Glu395Ala) c.1325A>C (p.Glu442Ala) c.952A>C (n.952A>C) c.1268A>C (p.Glu423Ala) c.884A>C (n.884A>C) c.2106+177322A>C (n.2106+177322A>C)
3	g.184322029A>G	CA355390484	EIF2B5,EIF4G1	c.1445A>G (p.Glu482Gly) c.1379A>G (p.Glu460Gly) c.815A>G (p.Glu272Gly) c.857A>G (p.Glu286Gly) c.953A>G (p.Glu318Gly) c.1466A>G (p.Glu489Gly) c.1184A>G (p.Glu395Gly) c.1325A>G (p.Glu442Gly) c.952A>G (n.952A>G) c.1268A>G (p.Glu423Gly) c.884A>G (n.884A>G) c.2106+177322A>G (n.2106+177322A>G)
3	g.184322029A>T	CA355390488	EIF2B5,EIF4G1	c.1445A>T (p.Glu482Val) c.1379A>T (p.Glu460Val) c.815A>T (p.Glu272Val) c.857A>T (p.Glu286Val) c.953A>T (p.Glu318Val) c.1466A>T (p.Glu489Val) c.1184A>T (p.Glu395Val) c.1325A>T (p.Glu442Val) c.952A>T (n.952A>T) c.1268A>T (p.Glu423Val) c.884A>T (n.884A>T) c.2106+177322A>T (n.2106+177322A>T)
3	g.184322030A=	CA1425953122	EIF2B5,EIF4G1	c.1446A= (p.Glu482=) c.1380A= (p.Glu460=) c.816A= (p.Glu272=) c.858A= (p.Glu286=) c.954A= (p.Glu318=) c.1467A= (p.Glu489=) c.1185A= (p.Glu395=) c.1326A= (p.Glu442=) c.953A= (n.953A=) c.1269A= (p.Glu423=) c.885A= (n.885A=) c.2106+177323A= (n.2106+177323A=)
3	g.184322030A>C	CA355390503	EIF2B5,EIF4G1	c.1446A>C (p.Glu482Asp) c.1380A>C (p.Glu460Asp) c.816A>C (p.Glu272Asp) c.858A>C (p.Glu286Asp) c.954A>C (p.Glu318Asp) c.1467A>C (p.Glu489Asp) c.1185A>C (p.Glu395Asp) c.1326A>C (p.Glu442Asp) c.953A>C (n.953A>C) c.1269A>C (p.Glu423Asp) c.885A>C (n.885A>C) c.2106+177323A>C (n.2106+177323A>C)
3	g.184322030A>G	CA437329668	EIF2B5,EIF4G1	c.1446A>G (p.Glu482=) c.1380A>G (p.Glu460=) c.816A>G (p.Glu272=) c.858A>G (p.Glu286=) c.954A>G (p.Glu318=) c.1467A>G (p.Glu489=) c.1185A>G (p.Glu395=) c.1326A>G (p.Glu442=) c.953A>G (n.953A>G) c.1269A>G (p.Glu423=) c.885A>G (n.885A>G) c.2106+177323A>G (n.2106+177323A>G)	dbSNP
3	g.184322030A>T	CA355390499	EIF2B5,EIF4G1	c.1446A>T (p.Glu482Asp) c.1380A>T (p.Glu460Asp) c.816A>T (p.Glu272Asp) c.858A>T (p.Glu286Asp) c.954A>T (p.Glu318Asp) c.1467A>T (p.Glu489Asp) c.1185A>T (p.Glu395Asp) c.1326A>T (p.Glu442Asp) c.953A>T (n.953A>T) c.1269A>T (p.Glu423Asp) c.885A>T (n.885A>T) c.2106+177323A>T (n.2106+177323A>T)	dbSNP
3	g.184322031C>A	CA355390507	EIF2B5,EIF4G1	c.1447C>A (p.Leu483Met) c.1381C>A (p.Leu461Met) c.817C>A (p.Leu273Met) c.859C>A (p.Leu287Met) c.955C>A (p.Leu319Met) c.1468C>A (p.Leu490Met) c.1186C>A (p.Leu396Met) c.1327C>A (p.Leu443Met) c.954C>A (n.954C>A) c.1270C>A (p.Leu424Met) c.886C>A (n.886C>A) c.2106+177324C>A (n.2106+177324C>A)
3	g.184322031C=	CA1425953126	EIF2B5,EIF4G1	c.1447C= (p.Leu483=) c.1381C= (p.Leu461=) c.817C= (p.Leu273=) c.859C= (p.Leu287=) c.955C= (p.Leu319=) c.1468C= (p.Leu490=) c.1186C= (p.Leu396=) c.1327C= (p.Leu443=) c.954C= (n.954C=) c.1270C= (p.Leu424=) c.886C= (n.886C=) c.2106+177324C= (n.2106+177324C=)
3	g.184322031C>G	CA2732193	EIF2B5,EIF4G1	c.1447C>G (p.Leu483Val) c.1381C>G (p.Leu461Val) c.817C>G (p.Leu273Val) c.859C>G (p.Leu287Val) c.955C>G (p.Leu319Val) c.1468C>G (p.Leu490Val) c.1186C>G (p.Leu396Val) c.1327C>G (p.Leu443Val) c.954C>G (n.954C>G) c.1270C>G (p.Leu424Val) c.886C>G (n.886C>G) c.2106+177324C>G (n.2106+177324C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.184322031C>T	CA437329670	EIF2B5,EIF4G1	c.1447C>T (p.Leu483=) c.1381C>T (p.Leu461=) c.817C>T (p.Leu273=) c.859C>T (p.Leu287=) c.955C>T (p.Leu319=) c.1468C>T (p.Leu490=) c.1186C>T (p.Leu396=) c.1327C>T (p.Leu443=) c.954C>T (n.954C>T) c.1270C>T (p.Leu424=) c.886C>T (n.886C>T) c.2106+177324C>T (n.2106+177324C>T)
3	g.184322032T>A	CA355390509	EIF2B5,EIF4G1	c.1448T>A (p.Leu483Gln) c.1382T>A (p.Leu461Gln) c.818T>A (p.Leu273Gln) c.860T>A (p.Leu287Gln) c.956T>A (p.Leu319Gln) c.1469T>A (p.Leu490Gln) c.1187T>A (p.Leu396Gln) c.1328T>A (p.Leu443Gln) c.955T>A (n.955T>A) c.1271T>A (p.Leu424Gln) c.887T>A (n.887T>A) c.2106+177325T>A (n.2106+177325T>A)
3	g.184322032T>C	CA355390511	EIF2B5,EIF4G1	c.1448T>C (p.Leu483Pro) c.1382T>C (p.Leu461Pro) c.818T>C (p.Leu273Pro) c.860T>C (p.Leu287Pro) c.956T>C (p.Leu319Pro) c.1469T>C (p.Leu490Pro) c.1187T>C (p.Leu396Pro) c.1328T>C (p.Leu443Pro) c.955T>C (n.955T>C) c.1271T>C (p.Leu424Pro) c.887T>C (n.887T>C) c.2106+177325T>C (n.2106+177325T>C)
3	g.184322032T>G	CA355390515	EIF2B5,EIF4G1	c.1448T>G (p.Leu483Arg) c.1382T>G (p.Leu461Arg) c.818T>G (p.Leu273Arg) c.860T>G (p.Leu287Arg) c.956T>G (p.Leu319Arg) c.1469T>G (p.Leu490Arg) c.1187T>G (p.Leu396Arg) c.1328T>G (p.Leu443Arg) c.955T>G (n.955T>G) c.1271T>G (p.Leu424Arg) c.887T>G (n.887T>G) c.2106+177325T>G (n.2106+177325T>G)
3	g.184322033G>A	CA2732194	EIF2B5,EIF4G1	c.1449G>A (p.Leu483=) c.1383G>A (p.Leu461=) c.819G>A (p.Leu273=) c.861G>A (p.Leu287=) c.957G>A (p.Leu319=) c.1470G>A (p.Leu490=) c.1188G>A (p.Leu396=) c.1329G>A (p.Leu443=) c.956G>A (n.956G>A) c.1272G>A (p.Leu424=) c.888G>A (n.888G>A) c.2106+177326G>A (n.2106+177326G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322033G>C	CA437329672	EIF2B5,EIF4G1	c.1449G>C (p.Leu483=) c.1383G>C (p.Leu461=) c.819G>C (p.Leu273=) c.861G>C (p.Leu287=) c.957G>C (p.Leu319=) c.1470G>C (p.Leu490=) c.1188G>C (p.Leu396=) c.1329G>C (p.Leu443=) c.956G>C (n.956G>C) c.1272G>C (p.Leu424=) c.888G>C (n.888G>C) c.2106+177326G>C (n.2106+177326G>C)	gnomAD v4
3	g.184322033G=	CA1425953129	EIF2B5,EIF4G1	c.1449G= (p.Leu483=) c.1383G= (p.Leu461=) c.819G= (p.Leu273=) c.861G= (p.Leu287=) c.957G= (p.Leu319=) c.1470G= (p.Leu490=) c.1188G= (p.Leu396=) c.1329G= (p.Leu443=) c.956G= (n.956G=) c.1272G= (p.Leu424=) c.888G= (n.888G=) c.2106+177326G= (n.2106+177326G=)
3	g.184322033G>T	CA437329671	EIF2B5,EIF4G1	c.1449G>T (p.Leu483=) c.1383G>T (p.Leu461=) c.819G>T (p.Leu273=) c.861G>T (p.Leu287=) c.957G>T (p.Leu319=) c.1470G>T (p.Leu490=) c.1188G>T (p.Leu396=) c.1329G>T (p.Leu443=) c.956G>T (n.956G>T) c.1272G>T (p.Leu424=) c.888G>T (n.888G>T) c.2106+177326G>T (n.2106+177326G>T)
3	g.184322034C>A	CA355390522	EIF2B5,EIF4G1	c.1450C>A (p.Leu484Ile) c.1384C>A (p.Leu462Ile) c.820C>A (p.Leu274Ile) c.862C>A (p.Leu288Ile) c.958C>A (p.Leu320Ile) c.1471C>A (p.Leu491Ile) c.1189C>A (p.Leu397Ile) c.1330C>A (p.Leu444Ile) c.957C>A (n.957C>A) c.1273C>A (p.Leu425Ile) c.889C>A (n.889C>A) c.2106+177327C>A (n.2106+177327C>A)
3	g.184322034C=	CA1425953134	EIF2B5,EIF4G1	c.1450C= (p.Leu484=) c.1384C= (p.Leu462=) c.820C= (p.Leu274=) c.862C= (p.Leu288=) c.958C= (p.Leu320=) c.1471C= (p.Leu491=) c.1189C= (p.Leu397=) c.1330C= (p.Leu444=) c.957C= (n.957C=) c.1273C= (p.Leu425=) c.889C= (n.889C=) c.2106+177327C= (n.2106+177327C=)
3	g.184322034C>G	CA355390533	EIF2B5,EIF4G1	c.1450C>G (p.Leu484Val) c.1384C>G (p.Leu462Val) c.820C>G (p.Leu274Val) c.862C>G (p.Leu288Val) c.958C>G (p.Leu320Val) c.1471C>G (p.Leu491Val) c.1189C>G (p.Leu397Val) c.1330C>G (p.Leu444Val) c.957C>G (n.957C>G) c.1273C>G (p.Leu425Val) c.889C>G (n.889C>G) c.2106+177327C>G (n.2106+177327C>G)
3	g.184322034C>T	CA2732195	EIF2B5,EIF4G1	c.1450C>T (p.Leu484Phe) c.1384C>T (p.Leu462Phe) c.820C>T (p.Leu274Phe) c.862C>T (p.Leu288Phe) c.958C>T (p.Leu320Phe) c.1471C>T (p.Leu491Phe) c.1189C>T (p.Leu397Phe) c.1330C>T (p.Leu444Phe) c.957C>T (n.957C>T) c.1273C>T (p.Leu425Phe) c.889C>T (n.889C>T) c.2106+177327C>T (n.2106+177327C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322035T>A	CA355390549	EIF2B5,EIF4G1	c.1451T>A (p.Leu484His) c.1385T>A (p.Leu462His) c.821T>A (p.Leu274His) c.863T>A (p.Leu288His) c.959T>A (p.Leu320His) c.1472T>A (p.Leu491His) c.1190T>A (p.Leu397His) c.1331T>A (p.Leu444His) c.958T>A (n.958T>A) c.1274T>A (p.Leu425His) c.890T>A (n.890T>A) c.2106+177328T>A (n.2106+177328T>A)	dbSNP gnomAD v2 gnomAD v4
3	g.184322035T>C	CA355390554	EIF2B5,EIF4G1	c.1451T>C (p.Leu484Pro) c.1385T>C (p.Leu462Pro) c.821T>C (p.Leu274Pro) c.863T>C (p.Leu288Pro) c.959T>C (p.Leu320Pro) c.1472T>C (p.Leu491Pro) c.1190T>C (p.Leu397Pro) c.1331T>C (p.Leu444Pro) c.958T>C (n.958T>C) c.1274T>C (p.Leu425Pro) c.890T>C (n.890T>C) c.2106+177328T>C (n.2106+177328T>C)
3	g.184322035T>G	CA355390571	EIF2B5,EIF4G1	c.1451T>G (p.Leu484Arg) c.1385T>G (p.Leu462Arg) c.821T>G (p.Leu274Arg) c.863T>G (p.Leu288Arg) c.959T>G (p.Leu320Arg) c.1472T>G (p.Leu491Arg) c.1190T>G (p.Leu397Arg) c.1331T>G (p.Leu444Arg) c.958T>G (n.958T>G) c.1274T>G (p.Leu425Arg) c.890T>G (n.890T>G) c.2106+177328T>G (n.2106+177328T>G)
3	g.184322035T=	CA1425953138	EIF2B5,EIF4G1	c.1451T= (p.Leu484=) c.1385T= (p.Leu462=) c.821T= (p.Leu274=) c.863T= (p.Leu288=) c.959T= (p.Leu320=) c.1472T= (p.Leu491=) c.1190T= (p.Leu397=) c.1331T= (p.Leu444=) c.958T= (n.958T=) c.1274T= (p.Leu425=) c.890T= (n.890T=) c.2106+177328T= (n.2106+177328T=)
3	g.184322035_184322036delinsTC	CA1425953139	EIF2B5,EIF4G1	c.1451_1452delinsTC (p.Leu484=) c.1385_1386delinsTC (p.Leu462=) c.821_822delinsTC (p.Leu274=) c.863_864delinsTC (p.Leu288=) c.959_960delinsTC (p.Leu320=) c.1472_1473delinsTC (p.Leu491=) c.1190_1191delinsTC (p.Leu397=) c.1331_1332delinsTC (p.Leu444=) c.958_959delinsTC (n.958_959delinsTC) c.1274_1275delinsTC (p.Leu425=) c.890_891delinsTC (n.890_891delinsTC) c.2106+177328_2106+177329delinsTC (n.2106+177328_2106+177329delinsTC)
3	g.184322036C>A	CA437329675	EIF2B5,EIF4G1	c.1452C>A (p.Leu484=) c.1386C>A (p.Leu462=) c.822C>A (p.Leu274=) c.864C>A (p.Leu288=) c.960C>A (p.Leu320=) c.1473C>A (p.Leu491=) c.1191C>A (p.Leu397=) c.1332C>A (p.Leu444=) c.959C>A (n.959C>A) c.1275C>A (p.Leu425=) c.891C>A (n.891C>A) c.2106+177329C>A (n.2106+177329C>A)	gnomAD v4
3	g.184322036C=	CA1425953144	EIF2B5,EIF4G1	c.1452C= (p.Leu484=) c.1386C= (p.Leu462=) c.822C= (p.Leu274=) c.864C= (p.Leu288=) c.960C= (p.Leu320=) c.1473C= (p.Leu491=) c.1191C= (p.Leu397=) c.1332C= (p.Leu444=) c.959C= (n.959C=) c.1275C= (p.Leu425=) c.891C= (n.891C=) c.2106+177329C= (n.2106+177329C=)
3	g.184322036C>G	CA437329673	EIF2B5,EIF4G1	c.1452C>G (p.Leu484=) c.1386C>G (p.Leu462=) c.822C>G (p.Leu274=) c.864C>G (p.Leu288=) c.960C>G (p.Leu320=) c.1473C>G (p.Leu491=) c.1191C>G (p.Leu397=) c.1332C>G (p.Leu444=) c.959C>G (n.959C>G) c.1275C>G (p.Leu425=) c.891C>G (n.891C>G) c.2106+177329C>G (n.2106+177329C>G)
3	g.184322036C>T	CA437329674	EIF2B5,EIF4G1	c.1452C>T (p.Leu484=) c.1386C>T (p.Leu462=) c.822C>T (p.Leu274=) c.864C>T (p.Leu288=) c.960C>T (p.Leu320=) c.1473C>T (p.Leu491=) c.1191C>T (p.Leu397=) c.1332C>T (p.Leu444=) c.959C>T (n.959C>T) c.1275C>T (p.Leu425=) c.891C>T (n.891C>T) c.2106+177329C>T (n.2106+177329C>T)	dbSNP gnomAD v4
3	g.184322041dup	CA548795502	EIF2B5,EIF4G1	c.1457dup (p.Glu487ArgfsTer?) c.1391dup (p.Glu465ArgfsTer?) c.827dup (p.Glu277ArgfsTer?) c.869dup (p.Glu291ArgfsTer?) c.965dup (p.Glu323ArgfsTer?) c.1478dup (p.Glu494ArgfsTer?) c.1196dup (p.Glu400ArgfsTer?) c.1337dup (p.Glu447ArgfsTer?) c.964dup (n.964dup) c.1280dup (p.Glu428ArgfsTer?) c.896dup (n.896dup) c.2106+177334dup (n.2106+177334dup)	gnomAD v2
3	g.184322041del	CA917083526	EIF2B5,EIF4G1	c.1457del (p.Pro486GlnfsTer?) c.1391del (p.Pro464GlnfsTer?) c.827del (p.Pro276GlnfsTer?) c.869del (p.Pro290GlnfsTer?) c.965del (p.Pro322GlnfsTer?) c.1478del (p.Pro493GlnfsTer?) c.1196del (p.Pro399GlnfsTer?) c.1337del (p.Pro446GlnfsTer?) c.964del (n.964del) c.1280del (p.Pro427GlnfsTer?) c.896del (n.896del) c.2106+177334del (n.2106+177334del)	dbSNP
3	g.184322037C>A	CA355390576	EIF2B5,EIF4G1	c.1453C>A (p.Pro485Thr) c.1387C>A (p.Pro463Thr) c.823C>A (p.Pro275Thr) c.865C>A (p.Pro289Thr) c.961C>A (p.Pro321Thr) c.1474C>A (p.Pro492Thr) c.1192C>A (p.Pro398Thr) c.1333C>A (p.Pro445Thr) c.960C>A (n.960C>A) c.1276C>A (p.Pro426Thr) c.892C>A (n.892C>A) c.2106+177330C>A (n.2106+177330C>A)
3	g.184322037C=	CA1425953147	EIF2B5,EIF4G1	c.1453C= (p.Pro485=) c.1387C= (p.Pro463=) c.823C= (p.Pro275=) c.865C= (p.Pro289=) c.961C= (p.Pro321=) c.1474C= (p.Pro492=) c.1192C= (p.Pro398=) c.1333C= (p.Pro445=) c.960C= (n.960C=) c.1276C= (p.Pro426=) c.892C= (n.892C=) c.2106+177330C= (n.2106+177330C=)
3	g.184322037C>G	CA355390585	EIF2B5,EIF4G1	c.1453C>G (p.Pro485Ala) c.1387C>G (p.Pro463Ala) c.823C>G (p.Pro275Ala) c.865C>G (p.Pro289Ala) c.961C>G (p.Pro321Ala) c.1474C>G (p.Pro492Ala) c.1192C>G (p.Pro398Ala) c.1333C>G (p.Pro445Ala) c.960C>G (n.960C>G) c.1276C>G (p.Pro426Ala) c.892C>G (n.892C>G) c.2106+177330C>G (n.2106+177330C>G)
3	g.184322037C>T	CA2732196	EIF2B5,EIF4G1	c.1453C>T (p.Pro485Ser) c.1387C>T (p.Pro463Ser) c.823C>T (p.Pro275Ser) c.865C>T (p.Pro289Ser) c.961C>T (p.Pro321Ser) c.1474C>T (p.Pro492Ser) c.1192C>T (p.Pro398Ser) c.1333C>T (p.Pro445Ser) c.960C>T (n.960C>T) c.1276C>T (p.Pro426Ser) c.892C>T (n.892C>T) c.2106+177330C>T (n.2106+177330C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322038C>A	CA355390599	EIF2B5,EIF4G1	c.1454C>A (p.Pro485His) c.1388C>A (p.Pro463His) c.824C>A (p.Pro275His) c.866C>A (p.Pro289His) c.962C>A (p.Pro321His) c.1475C>A (p.Pro492His) c.1193C>A (p.Pro398His) c.1334C>A (p.Pro445His) c.961C>A (n.961C>A) c.1277C>A (p.Pro426His) c.893C>A (n.893C>A) c.2106+177331C>A (n.2106+177331C>A)
3	g.184322038C=	CA1425953150	EIF2B5,EIF4G1	c.1454C= (p.Pro485=) c.1388C= (p.Pro463=) c.824C= (p.Pro275=) c.866C= (p.Pro289=) c.962C= (p.Pro321=) c.1475C= (p.Pro492=) c.1193C= (p.Pro398=) c.1334C= (p.Pro445=) c.961C= (n.961C=) c.1277C= (p.Pro426=) c.893C= (n.893C=) c.2106+177331C= (n.2106+177331C=)
3	g.184322038C>G	CA355390601	EIF2B5,EIF4G1	c.1454C>G (p.Pro485Arg) c.1388C>G (p.Pro463Arg) c.824C>G (p.Pro275Arg) c.866C>G (p.Pro289Arg) c.962C>G (p.Pro321Arg) c.1475C>G (p.Pro492Arg) c.1193C>G (p.Pro398Arg) c.1334C>G (p.Pro445Arg) c.961C>G (n.961C>G) c.1277C>G (p.Pro426Arg) c.893C>G (n.893C>G) c.2106+177331C>G (n.2106+177331C>G)	dbSNP gnomAD v2 gnomAD v4
3	g.184322038C>T	CA355390608	EIF2B5,EIF4G1	c.1454C>T (p.Pro485Leu) c.1388C>T (p.Pro463Leu) c.824C>T (p.Pro275Leu) c.866C>T (p.Pro289Leu) c.962C>T (p.Pro321Leu) c.1475C>T (p.Pro492Leu) c.1193C>T (p.Pro398Leu) c.1334C>T (p.Pro445Leu) c.961C>T (n.961C>T) c.1277C>T (p.Pro426Leu) c.893C>T (n.893C>T) c.2106+177331C>T (n.2106+177331C>T)	dbSNP gnomAD v2 gnomAD v4
3	g.184322039C>A	CA2732197	EIF2B5,EIF4G1	c.1455C>A (p.Pro485=) c.1389C>A (p.Pro463=) c.825C>A (p.Pro275=) c.867C>A (p.Pro289=) c.963C>A (p.Pro321=) c.1476C>A (p.Pro492=) c.1194C>A (p.Pro398=) c.1335C>A (p.Pro445=) c.962C>A (n.962C>A) c.1278C>A (p.Pro426=) c.894C>A (n.894C>A) c.2106+177332C>A (n.2106+177332C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322039C=	CA1425953152	EIF2B5,EIF4G1	c.1455C= (p.Pro485=) c.1389C= (p.Pro463=) c.825C= (p.Pro275=) c.867C= (p.Pro289=) c.963C= (p.Pro321=) c.1476C= (p.Pro492=) c.1194C= (p.Pro398=) c.1335C= (p.Pro445=) c.962C= (n.962C=) c.1278C= (p.Pro426=) c.894C= (n.894C=) c.2106+177332C= (n.2106+177332C=)
3	g.184322039C>G	CA437329677	EIF2B5,EIF4G1	c.1455C>G (p.Pro485=) c.1389C>G (p.Pro463=) c.825C>G (p.Pro275=) c.867C>G (p.Pro289=) c.963C>G (p.Pro321=) c.1476C>G (p.Pro492=) c.1194C>G (p.Pro398=) c.1335C>G (p.Pro445=) c.962C>G (n.962C>G) c.1278C>G (p.Pro426=) c.894C>G (n.894C>G) c.2106+177332C>G (n.2106+177332C>G)	gnomAD v4
3	g.184322039C>T	CA437329676	EIF2B5,EIF4G1	c.1455C>T (p.Pro485=) c.1389C>T (p.Pro463=) c.825C>T (p.Pro275=) c.867C>T (p.Pro289=) c.963C>T (p.Pro321=) c.1476C>T (p.Pro492=) c.1194C>T (p.Pro398=) c.1335C>T (p.Pro445=) c.962C>T (n.962C>T) c.1278C>T (p.Pro426=) c.894C>T (n.894C>T) c.2106+177332C>T (n.2106+177332C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322040C>A	CA355390617	EIF2B5,EIF4G1	c.1456C>A (p.Pro486Thr) c.1390C>A (p.Pro464Thr) c.826C>A (p.Pro276Thr) c.868C>A (p.Pro290Thr) c.964C>A (p.Pro322Thr) c.1477C>A (p.Pro493Thr) c.1195C>A (p.Pro399Thr) c.1336C>A (p.Pro446Thr) c.963C>A (n.963C>A) c.1279C>A (p.Pro427Thr) c.895C>A (n.895C>A) c.2106+177333C>A (n.2106+177333C>A)	dbSNP gnomAD v2 gnomAD v4
3	g.184322040C=	CA1425953155	EIF2B5,EIF4G1	c.1456C= (p.Pro486=) c.1390C= (p.Pro464=) c.826C= (p.Pro276=) c.868C= (p.Pro290=) c.964C= (p.Pro322=) c.1477C= (p.Pro493=) c.1195C= (p.Pro399=) c.1336C= (p.Pro446=) c.963C= (n.963C=) c.1279C= (p.Pro427=) c.895C= (n.895C=) c.2106+177333C= (n.2106+177333C=)
3	g.184322040C>G	CA2732199	EIF2B5,EIF4G1	c.1456C>G (p.Pro486Ala) c.1390C>G (p.Pro464Ala) c.826C>G (p.Pro276Ala) c.868C>G (p.Pro290Ala) c.964C>G (p.Pro322Ala) c.1477C>G (p.Pro493Ala) c.1195C>G (p.Pro399Ala) c.1336C>G (p.Pro446Ala) c.963C>G (n.963C>G) c.1279C>G (p.Pro427Ala) c.895C>G (n.895C>G) c.2106+177333C>G (n.2106+177333C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.184322040C>T	CA2732198	EIF2B5,EIF4G1	c.1456C>T (p.Pro486Ser) c.1390C>T (p.Pro464Ser) c.826C>T (p.Pro276Ser) c.868C>T (p.Pro290Ser) c.964C>T (p.Pro322Ser) c.1477C>T (p.Pro493Ser) c.1195C>T (p.Pro399Ser) c.1336C>T (p.Pro446Ser) c.963C>T (n.963C>T) c.1279C>T (p.Pro427Ser) c.895C>T (n.895C>T) c.2106+177333C>T (n.2106+177333C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322041C>A	CA355390618	EIF2B5,EIF4G1	c.1457C>A (p.Pro486Gln) c.1391C>A (p.Pro464Gln) c.827C>A (p.Pro276Gln) c.869C>A (p.Pro290Gln) c.965C>A (p.Pro322Gln) c.1478C>A (p.Pro493Gln) c.1196C>A (p.Pro399Gln) c.1337C>A (p.Pro446Gln) c.964C>A (n.964C>A) c.1280C>A (p.Pro427Gln) c.896C>A (n.896C>A) c.2106+177334C>A (n.2106+177334C>A)	dbSNP gnomAD v3 gnomAD v4
3	g.184322041C=	CA1425953158	EIF2B5,EIF4G1	c.1457C= (p.Pro486=) c.1391C= (p.Pro464=) c.827C= (p.Pro276=) c.869C= (p.Pro290=) c.965C= (p.Pro322=) c.1478C= (p.Pro493=) c.1196C= (p.Pro399=) c.1337C= (p.Pro446=) c.964C= (n.964C=) c.1280C= (p.Pro427=) c.896C= (n.896C=) c.2106+177334C= (n.2106+177334C=)
3	g.184322041C>G	CA355390623	EIF2B5,EIF4G1	c.1457C>G (p.Pro486Arg) c.1391C>G (p.Pro464Arg) c.827C>G (p.Pro276Arg) c.869C>G (p.Pro290Arg) c.965C>G (p.Pro322Arg) c.1478C>G (p.Pro493Arg) c.1196C>G (p.Pro399Arg) c.1337C>G (p.Pro446Arg) c.964C>G (n.964C>G) c.1280C>G (p.Pro427Arg) c.896C>G (n.896C>G) c.2106+177334C>G (n.2106+177334C>G)	dbSNP gnomAD v2 gnomAD v4
3	g.184322041C>T	CA2732200	EIF2B5,EIF4G1	c.1457C>T (p.Pro486Leu) c.1391C>T (p.Pro464Leu) c.827C>T (p.Pro276Leu) c.869C>T (p.Pro290Leu) c.965C>T (p.Pro322Leu) c.1478C>T (p.Pro493Leu) c.1196C>T (p.Pro399Leu) c.1337C>T (p.Pro446Leu) c.964C>T (n.964C>T) c.1280C>T (p.Pro427Leu) c.896C>T (n.896C>T) c.2106+177334C>T (n.2106+177334C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322042A=	CA1425953161	EIF2B5,EIF4G1	c.1458A= (p.Pro486=) c.1392A= (p.Pro464=) c.828A= (p.Pro276=) c.870A= (p.Pro290=) c.966A= (p.Pro322=) c.1479A= (p.Pro493=) c.1197A= (p.Pro399=) c.1338A= (p.Pro446=) c.965A= (n.965A=) c.1281A= (p.Pro427=) c.897A= (n.897A=) c.2106+177335A= (n.2106+177335A=)
3	g.184322042A>C	CA2732201	EIF2B5,EIF4G1	c.1458A>C (p.Pro486=) c.1392A>C (p.Pro464=) c.828A>C (p.Pro276=) c.870A>C (p.Pro290=) c.966A>C (p.Pro322=) c.1479A>C (p.Pro493=) c.1197A>C (p.Pro399=) c.1338A>C (p.Pro446=) c.965A>C (n.965A>C) c.1281A>C (p.Pro427=) c.897A>C (n.897A>C) c.2106+177335A>C (n.2106+177335A>C)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.184322042A>G	CA437329678	EIF2B5,EIF4G1	c.1458A>G (p.Pro486=) c.1392A>G (p.Pro464=) c.828A>G (p.Pro276=) c.870A>G (p.Pro290=) c.966A>G (p.Pro322=) c.1479A>G (p.Pro493=) c.1197A>G (p.Pro399=) c.1338A>G (p.Pro446=) c.965A>G (n.965A>G) c.1281A>G (p.Pro427=) c.897A>G (n.897A>G) c.2106+177335A>G (n.2106+177335A>G)
3	g.184322042A>T	CA2732202	EIF2B5,EIF4G1	c.1458A>T (p.Pro486=) c.1392A>T (p.Pro464=) c.828A>T (p.Pro276=) c.870A>T (p.Pro290=) c.966A>T (p.Pro322=) c.1479A>T (p.Pro493=) c.1197A>T (p.Pro399=) c.1338A>T (p.Pro446=) c.965A>T (n.965A>T) c.1281A>T (p.Pro427=) c.897A>T (n.897A>T) c.2106+177335A>T (n.2106+177335A>T)	dbSNP ExAC gnomAD v2
3	g.184322043G>A	CA355390627	EIF2B5,EIF4G1	c.1459G>A (p.Glu487Lys) c.1393G>A (p.Glu465Lys) c.829G>A (p.Glu277Lys) c.871G>A (p.Glu291Lys) c.967G>A (p.Glu323Lys) c.1480G>A (p.Glu494Lys) c.1198G>A (p.Glu400Lys) c.1339G>A (p.Glu447Lys) c.966G>A (n.966G>A) c.1282G>A (p.Glu428Lys) c.898G>A (n.898G>A) c.2106+177336G>A (n.2106+177336G>A)
3	g.184322043G>C	CA355390628	EIF2B5,EIF4G1	c.1459G>C (p.Glu487Gln) c.1393G>C (p.Glu465Gln) c.829G>C (p.Glu277Gln) c.871G>C (p.Glu291Gln) c.967G>C (p.Glu323Gln) c.1480G>C (p.Glu494Gln) c.1198G>C (p.Glu400Gln) c.1339G>C (p.Glu447Gln) c.966G>C (n.966G>C) c.1282G>C (p.Glu428Gln) c.898G>C (n.898G>C) c.2106+177336G>C (n.2106+177336G>C)
3	g.184322043G>T	CA355390629	EIF2B5,EIF4G1	c.1459G>T (p.Glu487Ter) c.1393G>T (p.Glu465Ter) c.829G>T (p.Glu277Ter) c.871G>T (p.Glu291Ter) c.967G>T (p.Glu323Ter) c.1480G>T (p.Glu494Ter) c.1198G>T (p.Glu400Ter) c.1339G>T (p.Glu447Ter) c.966G>T (n.966G>T) c.1282G>T (p.Glu428Ter) c.898G>T (n.898G>T) c.2106+177336G>T (n.2106+177336G>T)
3	g.184322044A>C	CA355390630	EIF2B5,EIF4G1	c.1460A>C (p.Glu487Ala) c.1394A>C (p.Glu465Ala) c.830A>C (p.Glu277Ala) c.872A>C (p.Glu291Ala) c.968A>C (p.Glu323Ala) c.1481A>C (p.Glu494Ala) c.1199A>C (p.Glu400Ala) c.1340A>C (p.Glu447Ala) c.967A>C (n.967A>C) c.1283A>C (p.Glu428Ala) c.899A>C (n.899A>C) c.2106+177337A>C (n.2106+177337A>C)
3	g.184322044A>G	CA355390632	EIF2B5,EIF4G1	c.1460A>G (p.Glu487Gly) c.1394A>G (p.Glu465Gly) c.830A>G (p.Glu277Gly) c.872A>G (p.Glu291Gly) c.968A>G (p.Glu323Gly) c.1481A>G (p.Glu494Gly) c.1199A>G (p.Glu400Gly) c.1340A>G (p.Glu447Gly) c.967A>G (n.967A>G) c.1283A>G (p.Glu428Gly) c.899A>G (n.899A>G) c.2106+177337A>G (n.2106+177337A>G)
3	g.184322044A>T	CA355390634	EIF2B5,EIF4G1	c.1460A>T (p.Glu487Val) c.1394A>T (p.Glu465Val) c.830A>T (p.Glu277Val) c.872A>T (p.Glu291Val) c.968A>T (p.Glu323Val) c.1481A>T (p.Glu494Val) c.1199A>T (p.Glu400Val) c.1340A>T (p.Glu447Val) c.967A>T (n.967A>T) c.1283A>T (p.Glu428Val) c.899A>T (n.899A>T) c.2106+177337A>T (n.2106+177337A>T)
3	g.184322045G>A	CA437329679	EIF2B5,EIF4G1	c.1461G>A (p.Glu487=) c.1395G>A (p.Glu465=) c.831G>A (p.Glu277=) c.873G>A (p.Glu291=) c.969G>A (p.Glu323=) c.1482G>A (p.Glu494=) c.1200G>A (p.Glu400=) c.1341G>A (p.Glu447=) c.968G>A (n.968G>A) c.1284G>A (p.Glu428=) c.900G>A (n.900G>A) c.2106+177338G>A (n.2106+177338G>A)
3	g.184322045G>C	CA355390637	EIF2B5,EIF4G1	c.1461G>C (p.Glu487Asp) c.1395G>C (p.Glu465Asp) c.831G>C (p.Glu277Asp) c.873G>C (p.Glu291Asp) c.969G>C (p.Glu323Asp) c.1482G>C (p.Glu494Asp) c.1200G>C (p.Glu400Asp) c.1341G>C (p.Glu447Asp) c.968G>C (n.968G>C) c.1284G>C (p.Glu428Asp) c.900G>C (n.900G>C) c.2106+177338G>C (n.2106+177338G>C)	gnomAD v4
3	g.184322045G>T	CA355390641	EIF2B5,EIF4G1	c.1461G>T (p.Glu487Asp) c.1395G>T (p.Glu465Asp) c.831G>T (p.Glu277Asp) c.873G>T (p.Glu291Asp) c.969G>T (p.Glu323Asp) c.1482G>T (p.Glu494Asp) c.1200G>T (p.Glu400Asp) c.1341G>T (p.Glu447Asp) c.968G>T (n.968G>T) c.1284G>T (p.Glu428Asp) c.900G>T (n.900G>T) c.2106+177338G>T (n.2106+177338G>T)
3	g.184322046A>C	CA355390652	EIF2B5,EIF4G1	c.1462A>C (p.Ser488Arg) c.1396A>C (p.Ser466Arg) c.832A>C (p.Ser278Arg) c.874A>C (p.Ser292Arg) c.970A>C (p.Ser324Arg) c.1483A>C (p.Ser495Arg) c.1201A>C (p.Ser401Arg) c.1342A>C (p.Ser448Arg) c.969A>C (n.969A>C) c.1285A>C (p.Ser429Arg) c.901A>C (n.901A>C) c.2106+177339A>C (n.2106+177339A>C)
3	g.184322046A>G	CA355390650	EIF2B5,EIF4G1	c.1462A>G (p.Ser488Gly) c.1396A>G (p.Ser466Gly) c.832A>G (p.Ser278Gly) c.874A>G (p.Ser292Gly) c.970A>G (p.Ser324Gly) c.1483A>G (p.Ser495Gly) c.1201A>G (p.Ser401Gly) c.1342A>G (p.Ser448Gly) c.969A>G (n.969A>G) c.1285A>G (p.Ser429Gly) c.901A>G (n.901A>G) c.2106+177339A>G (n.2106+177339A>G)
3	g.184322046A>T	CA355390648	EIF2B5,EIF4G1	c.1462A>T (p.Ser488Cys) c.1396A>T (p.Ser466Cys) c.832A>T (p.Ser278Cys) c.874A>T (p.Ser292Cys) c.970A>T (p.Ser324Cys) c.1483A>T (p.Ser495Cys) c.1201A>T (p.Ser401Cys) c.1342A>T (p.Ser448Cys) c.969A>T (n.969A>T) c.1285A>T (p.Ser429Cys) c.901A>T (n.901A>T) c.2106+177339A>T (n.2106+177339A>T)
3	g.184322047G>A	CA355390654	EIF2B5,EIF4G1	c.1463G>A (p.Ser488Asn) c.1397G>A (p.Ser466Asn) c.833G>A (p.Ser278Asn) c.875G>A (p.Ser292Asn) c.971G>A (p.Ser324Asn) c.1484G>A (p.Ser495Asn) c.1202G>A (p.Ser401Asn) c.1343G>A (p.Ser448Asn) c.970G>A (n.970G>A) c.1286G>A (p.Ser429Asn) c.902G>A (n.902G>A) c.2106+177340G>A (n.2106+177340G>A)
3	g.184322047G>C	CA355390655	EIF2B5,EIF4G1	c.1463G>C (p.Ser488Thr) c.1397G>C (p.Ser466Thr) c.833G>C (p.Ser278Thr) c.875G>C (p.Ser292Thr) c.971G>C (p.Ser324Thr) c.1484G>C (p.Ser495Thr) c.1202G>C (p.Ser401Thr) c.1343G>C (p.Ser448Thr) c.970G>C (n.970G>C) c.1286G>C (p.Ser429Thr) c.902G>C (n.902G>C) c.2106+177340G>C (n.2106+177340G>C)	dbSNP
3	g.184322047G=	CA1425953164	EIF2B5,EIF4G1	c.1463G= (p.Ser488=) c.1397G= (p.Ser466=) c.833G= (p.Ser278=) c.875G= (p.Ser292=) c.971G= (p.Ser324=) c.1484G= (p.Ser495=) c.1202G= (p.Ser401=) c.1343G= (p.Ser448=) c.970G= (n.970G=) c.1286G= (p.Ser429=) c.902G= (n.902G=) c.2106+177340G= (n.2106+177340G=)
3	g.184322047G>T	CA355390656	EIF2B5,EIF4G1	c.1463G>T (p.Ser488Ile) c.1397G>T (p.Ser466Ile) c.833G>T (p.Ser278Ile) c.875G>T (p.Ser292Ile) c.971G>T (p.Ser324Ile) c.1484G>T (p.Ser495Ile) c.1202G>T (p.Ser401Ile) c.1343G>T (p.Ser448Ile) c.970G>T (n.970G>T) c.1286G>T (p.Ser429Ile) c.902G>T (n.902G>T) c.2106+177340G>T (n.2106+177340G>T)
3	g.184322048T>A	CA355390657	EIF2B5,EIF4G1	c.1464T>A (p.Ser488Arg) c.1398T>A (p.Ser466Arg) c.834T>A (p.Ser278Arg) c.876T>A (p.Ser292Arg) c.972T>A (p.Ser324Arg) c.1485T>A (p.Ser495Arg) c.1203T>A (p.Ser401Arg) c.1344T>A (p.Ser448Arg) c.971T>A (n.971T>A) c.1287T>A (p.Ser429Arg) c.903T>A (n.903T>A) c.2106+177341T>A (n.2106+177341T>A)	gnomAD v4
3	g.184322048T>C	CA2732203	EIF2B5,EIF4G1	c.1464T>C (p.Ser488=) c.1398T>C (p.Ser466=) c.834T>C (p.Ser278=) c.876T>C (p.Ser292=) c.972T>C (p.Ser324=) c.1485T>C (p.Ser495=) c.1203T>C (p.Ser401=) c.1344T>C (p.Ser448=) c.971T>C (n.971T>C) c.1287T>C (p.Ser429=) c.903T>C (n.903T>C) c.2106+177341T>C (n.2106+177341T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.184322048T>G	CA355390659	EIF2B5,EIF4G1	c.1464T>G (p.Ser488Arg) c.1398T>G (p.Ser466Arg) c.834T>G (p.Ser278Arg) c.876T>G (p.Ser292Arg) c.972T>G (p.Ser324Arg) c.1485T>G (p.Ser495Arg) c.1203T>G (p.Ser401Arg) c.1344T>G (p.Ser448Arg) c.971T>G (n.971T>G) c.1287T>G (p.Ser429Arg) c.903T>G (n.903T>G) c.2106+177341T>G (n.2106+177341T>G)
3	g.184322048T=	CA1425953165	EIF2B5,EIF4G1	c.1464T= (p.Ser488=) c.1398T= (p.Ser466=) c.834T= (p.Ser278=) c.876T= (p.Ser292=) c.972T= (p.Ser324=) c.1485T= (p.Ser495=) c.1203T= (p.Ser401=) c.1344T= (p.Ser448=) c.971T= (n.971T=) c.1287T= (p.Ser429=) c.903T= (n.903T=) c.2106+177341T= (n.2106+177341T=)
3	g.184322049A>C	CA355390660	EIF2B5,EIF4G1	c.1465A>C (p.Thr489Pro) c.1399A>C (p.Thr467Pro) c.835A>C (p.Thr279Pro) c.877A>C (p.Thr293Pro) c.973A>C (p.Thr325Pro) c.1486A>C (p.Thr496Pro) c.1204A>C (p.Thr402Pro) c.1345A>C (p.Thr449Pro) c.972A>C (n.972A>C) c.1288A>C (p.Thr430Pro) c.904A>C (n.904A>C) c.2106+177342A>C (n.2106+177342A>C)
3	g.184322049A>G	CA355390661	EIF2B5,EIF4G1	c.1465A>G (p.Thr489Ala) c.1399A>G (p.Thr467Ala) c.835A>G (p.Thr279Ala) c.877A>G (p.Thr293Ala) c.973A>G (p.Thr325Ala) c.1486A>G (p.Thr496Ala) c.1204A>G (p.Thr402Ala) c.1345A>G (p.Thr449Ala) c.972A>G (n.972A>G) c.1288A>G (p.Thr430Ala) c.904A>G (n.904A>G) c.2106+177342A>G (n.2106+177342A>G)
3	g.184322049A>T	CA355390662	EIF2B5,EIF4G1	c.1465A>T (p.Thr489Ser) c.1399A>T (p.Thr467Ser) c.835A>T (p.Thr279Ser) c.877A>T (p.Thr293Ser) c.973A>T (p.Thr325Ser) c.1486A>T (p.Thr496Ser) c.1204A>T (p.Thr402Ser) c.1345A>T (p.Thr449Ser) c.972A>T (n.972A>T) c.1288A>T (p.Thr430Ser) c.904A>T (n.904A>T) c.2106+177342A>T (n.2106+177342A>T)
3	g.184322050C>A	CA355390663	EIF2B5,EIF4G1	c.1466C>A (p.Thr489Asn) c.1400C>A (p.Thr467Asn) c.836C>A (p.Thr279Asn) c.878C>A (p.Thr293Asn) c.974C>A (p.Thr325Asn) c.1487C>A (p.Thr496Asn) c.1205C>A (p.Thr402Asn) c.1346C>A (p.Thr449Asn) c.973C>A (n.973C>A) c.1289C>A (p.Thr430Asn) c.905C>A (n.905C>A) c.2106+177343C>A (n.2106+177343C>A)
3	g.184322050C=	CA1425953168	EIF2B5,EIF4G1	c.1466C= (p.Thr489=) c.1400C= (p.Thr467=) c.836C= (p.Thr279=) c.878C= (p.Thr293=) c.974C= (p.Thr325=) c.1487C= (p.Thr496=) c.1205C= (p.Thr402=) c.1346C= (p.Thr449=) c.973C= (n.973C=) c.1289C= (p.Thr430=) c.905C= (n.905C=) c.2106+177343C= (n.2106+177343C=)
3	g.184322050C>G	CA355390664	EIF2B5,EIF4G1	c.1466C>G (p.Thr489Ser) c.1400C>G (p.Thr467Ser) c.836C>G (p.Thr279Ser) c.878C>G (p.Thr293Ser) c.974C>G (p.Thr325Ser) c.1487C>G (p.Thr496Ser) c.1205C>G (p.Thr402Ser) c.1346C>G (p.Thr449Ser) c.973C>G (n.973C>G) c.1289C>G (p.Thr430Ser) c.905C>G (n.905C>G) c.2106+177343C>G (n.2106+177343C>G)
3	g.184322050C>T	CA355390665	EIF2B5,EIF4G1	c.1466C>T (p.Thr489Ile) c.1400C>T (p.Thr467Ile) c.836C>T (p.Thr279Ile) c.878C>T (p.Thr293Ile) c.974C>T (p.Thr325Ile) c.1487C>T (p.Thr496Ile) c.1205C>T (p.Thr402Ile) c.1346C>T (p.Thr449Ile) c.973C>T (n.973C>T) c.1289C>T (p.Thr430Ile) c.905C>T (n.905C>T) c.2106+177343C>T (n.2106+177343C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322051C>A	CA437329680	EIF2B5,EIF4G1	c.1467C>A (p.Thr489=) c.1401C>A (p.Thr467=) c.837C>A (p.Thr279=) c.879C>A (p.Thr293=) c.975C>A (p.Thr325=) c.1488C>A (p.Thr496=) c.1206C>A (p.Thr402=) c.1347C>A (p.Thr449=) c.974C>A (n.974C>A) c.1290C>A (p.Thr430=) c.906C>A (n.906C>A) c.2106+177344C>A (n.2106+177344C>A)	gnomAD v4
3	g.184322051C>G	CA437329681	EIF2B5,EIF4G1	c.1467C>G (p.Thr489=) c.1401C>G (p.Thr467=) c.837C>G (p.Thr279=) c.879C>G (p.Thr293=) c.975C>G (p.Thr325=) c.1488C>G (p.Thr496=) c.1206C>G (p.Thr402=) c.1347C>G (p.Thr449=) c.974C>G (n.974C>G) c.1290C>G (p.Thr430=) c.906C>G (n.906C>G) c.2106+177344C>G (n.2106+177344C>G)
3	g.184322051C>T	CA437329682	EIF2B5,EIF4G1	c.1467C>T (p.Thr489=) c.1401C>T (p.Thr467=) c.837C>T (p.Thr279=) c.879C>T (p.Thr293=) c.975C>T (p.Thr325=) c.1488C>T (p.Thr496=) c.1206C>T (p.Thr402=) c.1347C>T (p.Thr449=) c.974C>T (n.974C>T) c.1290C>T (p.Thr430=) c.906C>T (n.906C>T) c.2106+177344C>T (n.2106+177344C>T)	dbSNP
3	g.184322052C>A	CA355390669	EIF2B5,EIF4G1	c.1468C>A (p.Pro490Thr) c.1402C>A (p.Pro468Thr) c.838C>A (p.Pro280Thr) c.880C>A (p.Pro294Thr) c.976C>A (p.Pro326Thr) c.1489C>A (p.Pro497Thr) c.1207C>A (p.Pro403Thr) c.1348C>A (p.Pro450Thr) c.975C>A (n.975C>A) c.1291C>A (p.Pro431Thr) c.907C>A (n.907C>A) c.2106+177345C>A (n.2106+177345C>A)	gnomAD v4
3	g.184322052C>G	CA355390671	EIF2B5,EIF4G1	c.1468C>G (p.Pro490Ala) c.1402C>G (p.Pro468Ala) c.838C>G (p.Pro280Ala) c.880C>G (p.Pro294Ala) c.976C>G (p.Pro326Ala) c.1489C>G (p.Pro497Ala) c.1207C>G (p.Pro403Ala) c.1348C>G (p.Pro450Ala) c.975C>G (n.975C>G) c.1291C>G (p.Pro431Ala) c.907C>G (n.907C>G) c.2106+177345C>G (n.2106+177345C>G)	gnomAD v4
3	g.184322052C>T	CA355390667	EIF2B5,EIF4G1	c.1468C>T (p.Pro490Ser) c.1402C>T (p.Pro468Ser) c.838C>T (p.Pro280Ser) c.880C>T (p.Pro294Ser) c.976C>T (p.Pro326Ser) c.1489C>T (p.Pro497Ser) c.1207C>T (p.Pro403Ser) c.1348C>T (p.Pro450Ser) c.975C>T (n.975C>T) c.1291C>T (p.Pro431Ser) c.907C>T (n.907C>T) c.2106+177345C>T (n.2106+177345C>T)
3	g.184322053C>A	CA355390674	EIF2B5,EIF4G1	c.1469C>A (p.Pro490His) c.1403C>A (p.Pro468His) c.839C>A (p.Pro280His) c.881C>A (p.Pro294His) c.977C>A (p.Pro326His) c.1490C>A (p.Pro497His) c.1208C>A (p.Pro403His) c.1349C>A (p.Pro450His) c.976C>A (n.976C>A) c.1292C>A (p.Pro431His) c.908C>A (n.908C>A) c.2106+177346C>A (n.2106+177346C>A)
3	g.184322053C=	CA1425953172	EIF2B5,EIF4G1	c.1469C= (p.Pro490=) c.1403C= (p.Pro468=) c.839C= (p.Pro280=) c.881C= (p.Pro294=) c.977C= (p.Pro326=) c.1490C= (p.Pro497=) c.1208C= (p.Pro403=) c.1349C= (p.Pro450=) c.976C= (n.976C=) c.1292C= (p.Pro431=) c.908C= (n.908C=) c.2106+177346C= (n.2106+177346C=)
3	g.184322053C>G	CA355390676	EIF2B5,EIF4G1	c.1469C>G (p.Pro490Arg) c.1403C>G (p.Pro468Arg) c.839C>G (p.Pro280Arg) c.881C>G (p.Pro294Arg) c.977C>G (p.Pro326Arg) c.1490C>G (p.Pro497Arg) c.1208C>G (p.Pro403Arg) c.1349C>G (p.Pro450Arg) c.976C>G (n.976C>G) c.1292C>G (p.Pro431Arg) c.908C>G (n.908C>G) c.2106+177346C>G (n.2106+177346C>G)	dbSNP gnomAD v3 gnomAD v4
3	g.184322053C>T	CA355390677	EIF2B5,EIF4G1	c.1469C>T (p.Pro490Leu) c.1403C>T (p.Pro468Leu) c.839C>T (p.Pro280Leu) c.881C>T (p.Pro294Leu) c.977C>T (p.Pro326Leu) c.1490C>T (p.Pro497Leu) c.1208C>T (p.Pro403Leu) c.1349C>T (p.Pro450Leu) c.976C>T (n.976C>T) c.1292C>T (p.Pro431Leu) c.908C>T (n.908C>T) c.2106+177346C>T (n.2106+177346C>T)
3	g.184322054T>A	CA437329683	EIF2B5,EIF4G1	c.1470T>A (p.Pro490=) c.1404T>A (p.Pro468=) c.840T>A (p.Pro280=) c.882T>A (p.Pro294=) c.978T>A (p.Pro326=) c.1491T>A (p.Pro497=) c.1209T>A (p.Pro403=) c.1350T>A (p.Pro450=) c.977T>A (n.977T>A) c.1293T>A (p.Pro431=) c.909T>A (n.909T>A) c.2106+177347T>A (n.2106+177347T>A)
3	g.184322054T>C	CA437329685	EIF2B5,EIF4G1	c.1470T>C (p.Pro490=) c.1404T>C (p.Pro468=) c.840T>C (p.Pro280=) c.882T>C (p.Pro294=) c.978T>C (p.Pro326=) c.1491T>C (p.Pro497=) c.1209T>C (p.Pro403=) c.1350T>C (p.Pro450=) c.977T>C (n.977T>C) c.1293T>C (p.Pro431=) c.909T>C (n.909T>C) c.2106+177347T>C (n.2106+177347T>C)	gnomAD v4
3	g.184322054T>G	CA437329684	EIF2B5,EIF4G1	c.1470T>G (p.Pro490=) c.1404T>G (p.Pro468=) c.840T>G (p.Pro280=) c.882T>G (p.Pro294=) c.978T>G (p.Pro326=) c.1491T>G (p.Pro497=) c.1209T>G (p.Pro403=) c.1350T>G (p.Pro450=) c.977T>G (n.977T>G) c.1293T>G (p.Pro431=) c.909T>G (n.909T>G) c.2106+177347T>G (n.2106+177347T>G)
3	g.184322055A=	CA1425953174	EIF2B5,EIF4G1	c.1471A= (p.Ile491=) c.1405A= (p.Ile469=) c.841A= (p.Ile281=) c.883A= (p.Ile295=) c.979A= (p.Ile327=) c.1492A= (p.Ile498=) c.1210A= (p.Ile404=) c.1351A= (p.Ile451=) c.978A= (n.978A=) c.1294A= (p.Ile432=) c.910A= (n.910A=) c.2106+177348A= (n.2106+177348A=)
3	g.184322055A>C	CA355390679	EIF2B5,EIF4G1	c.1471A>C (p.Ile491Leu) c.1405A>C (p.Ile469Leu) c.841A>C (p.Ile281Leu) c.883A>C (p.Ile295Leu) c.979A>C (p.Ile327Leu) c.1492A>C (p.Ile498Leu) c.1210A>C (p.Ile404Leu) c.1351A>C (p.Ile451Leu) c.978A>C (n.978A>C) c.1294A>C (p.Ile432Leu) c.910A>C (n.910A>C) c.2106+177348A>C (n.2106+177348A>C)
3	g.184322055A>G	CA355390681	EIF2B5,EIF4G1	c.1471A>G (p.Ile491Val) c.1405A>G (p.Ile469Val) c.841A>G (p.Ile281Val) c.883A>G (p.Ile295Val) c.979A>G (p.Ile327Val) c.1492A>G (p.Ile498Val) c.1210A>G (p.Ile404Val) c.1351A>G (p.Ile451Val) c.978A>G (n.978A>G) c.1294A>G (p.Ile432Val) c.910A>G (n.910A>G) c.2106+177348A>G (n.2106+177348A>G)	dbSNP
3	g.184322055A>T	CA2732204	EIF2B5,EIF4G1	c.1471A>T (p.Ile491Phe) c.1405A>T (p.Ile469Phe) c.841A>T (p.Ile281Phe) c.883A>T (p.Ile295Phe) c.979A>T (p.Ile327Phe) c.1492A>T (p.Ile498Phe) c.1210A>T (p.Ile404Phe) c.1351A>T (p.Ile451Phe) c.978A>T (n.978A>T) c.1294A>T (p.Ile432Phe) c.910A>T (n.910A>T) c.2106+177348A>T (n.2106+177348A>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322056T>A	CA355390684	EIF2B5,EIF4G1	c.1472T>A (p.Ile491Asn) c.1406T>A (p.Ile469Asn) c.842T>A (p.Ile281Asn) c.884T>A (p.Ile295Asn) c.980T>A (p.Ile327Asn) c.1493T>A (p.Ile498Asn) c.1211T>A (p.Ile404Asn) c.1352T>A (p.Ile451Asn) c.979T>A (n.979T>A) c.1295T>A (p.Ile432Asn) c.911T>A (n.911T>A) c.2106+177349T>A (n.2106+177349T>A)
3	g.184322056T>C	CA355390686	EIF2B5,EIF4G1	c.1472T>C (p.Ile491Thr) c.1406T>C (p.Ile469Thr) c.842T>C (p.Ile281Thr) c.884T>C (p.Ile295Thr) c.980T>C (p.Ile327Thr) c.1493T>C (p.Ile498Thr) c.1211T>C (p.Ile404Thr) c.1352T>C (p.Ile451Thr) c.979T>C (n.979T>C) c.1295T>C (p.Ile432Thr) c.911T>C (n.911T>C) c.2106+177349T>C (n.2106+177349T>C)
3	g.184322056T>G	CA355390688	EIF2B5,EIF4G1	c.1472T>G (p.Ile491Ser) c.1406T>G (p.Ile469Ser) c.842T>G (p.Ile281Ser) c.884T>G (p.Ile295Ser) c.980T>G (p.Ile327Ser) c.1493T>G (p.Ile498Ser) c.1211T>G (p.Ile404Ser) c.1352T>G (p.Ile451Ser) c.979T>G (n.979T>G) c.1295T>G (p.Ile432Ser) c.911T>G (n.911T>G) c.2106+177349T>G (n.2106+177349T>G)
3	g.184322057T>A	CA437329686	EIF2B5,EIF4G1	c.1473T>A (p.Ile491=) c.1407T>A (p.Ile469=) c.843T>A (p.Ile281=) c.885T>A (p.Ile295=) c.981T>A (p.Ile327=) c.1494T>A (p.Ile498=) c.1212T>A (p.Ile404=) c.1353T>A (p.Ile451=) c.980T>A (n.980T>A) c.1296T>A (p.Ile432=) c.912T>A (n.912T>A) c.2106+177350T>A (n.2106+177350T>A)
3	g.184322057T>C	CA437329687	EIF2B5,EIF4G1	c.1473T>C (p.Ile491=) c.1407T>C (p.Ile469=) c.843T>C (p.Ile281=) c.885T>C (p.Ile295=) c.981T>C (p.Ile327=) c.1494T>C (p.Ile498=) c.1212T>C (p.Ile404=) c.1353T>C (p.Ile451=) c.980T>C (n.980T>C) c.1296T>C (p.Ile432=) c.912T>C (n.912T>C) c.2106+177350T>C (n.2106+177350T>C)
3	g.184322057T>G	CA355390690	EIF2B5,EIF4G1	c.1473T>G (p.Ile491Met) c.1407T>G (p.Ile469Met) c.843T>G (p.Ile281Met) c.885T>G (p.Ile295Met) c.981T>G (p.Ile327Met) c.1494T>G (p.Ile498Met) c.1212T>G (p.Ile404Met) c.1353T>G (p.Ile451Met) c.980T>G (n.980T>G) c.1296T>G (p.Ile432Met) c.912T>G (n.912T>G) c.2106+177350T>G (n.2106+177350T>G)
3	g.184322058C>A	CA355390692	EIF2B5,EIF4G1	c.1474C>A (p.Pro492Thr) c.1408C>A (p.Pro470Thr) c.844C>A (p.Pro282Thr) c.886C>A (p.Pro296Thr) c.982C>A (p.Pro328Thr) c.1495C>A (p.Pro499Thr) c.1213C>A (p.Pro405Thr) c.1354C>A (p.Pro452Thr) c.981C>A (n.981C>A) c.1297C>A (p.Pro433Thr) c.913C>A (n.913C>A) c.2106+177351C>A (n.2106+177351C>A)
3	g.184322058C=	CA1425953177	EIF2B5,EIF4G1	c.1474C= (p.Pro492=) c.1408C= (p.Pro470=) c.844C= (p.Pro282=) c.886C= (p.Pro296=) c.982C= (p.Pro328=) c.1495C= (p.Pro499=) c.1213C= (p.Pro405=) c.1354C= (p.Pro452=) c.981C= (n.981C=) c.1297C= (p.Pro433=) c.913C= (n.913C=) c.2106+177351C= (n.2106+177351C=)
3	g.184322058C>G	CA355390693	EIF2B5,EIF4G1	c.1474C>G (p.Pro492Ala) c.1408C>G (p.Pro470Ala) c.844C>G (p.Pro282Ala) c.886C>G (p.Pro296Ala) c.982C>G (p.Pro328Ala) c.1495C>G (p.Pro499Ala) c.1213C>G (p.Pro405Ala) c.1354C>G (p.Pro452Ala) c.981C>G (n.981C>G) c.1297C>G (p.Pro433Ala) c.913C>G (n.913C>G) c.2106+177351C>G (n.2106+177351C>G)	dbSNP gnomAD v3 gnomAD v4
3	g.184322058C>T	CA355390696	EIF2B5,EIF4G1	c.1474C>T (p.Pro492Ser) c.1408C>T (p.Pro470Ser) c.844C>T (p.Pro282Ser) c.886C>T (p.Pro296Ser) c.982C>T (p.Pro328Ser) c.1495C>T (p.Pro499Ser) c.1213C>T (p.Pro405Ser) c.1354C>T (p.Pro452Ser) c.981C>T (n.981C>T) c.1297C>T (p.Pro433Ser) c.913C>T (n.913C>T) c.2106+177351C>T (n.2106+177351C>T)	gnomAD v4
3	g.184322059del	CA2759716531	EIF2B5,EIF4G1	c.1475del (p.Pro492GlnfsTer30) c.1409del (p.Pro470GlnfsTer30) c.845del (p.Pro282GlnfsTer30) c.887del (p.Pro296GlnfsTer30) c.983del (p.Pro328GlnfsTer30) c.1496del (p.Pro499GlnfsTer30) c.1214del (p.Pro405GlnfsTer30) c.1355del (p.Pro452GlnfsTer30) c.982del (n.982del) c.1298del (p.Pro433GlnfsTer30) c.914del (n.914del) c.2106+177352del (n.2106+177352del)
3	g.184322059C>A	CA355390705	EIF2B5,EIF4G1	c.1475C>A (p.Pro492Gln) c.1409C>A (p.Pro470Gln) c.845C>A (p.Pro282Gln) c.887C>A (p.Pro296Gln) c.983C>A (p.Pro328Gln) c.1496C>A (p.Pro499Gln) c.1214C>A (p.Pro405Gln) c.1355C>A (p.Pro452Gln) c.982C>A (n.982C>A) c.1298C>A (p.Pro433Gln) c.914C>A (n.914C>A) c.2106+177352C>A (n.2106+177352C>A)
3	g.184322059C>G	CA355390703	EIF2B5,EIF4G1	c.1475C>G (p.Pro492Arg) c.1409C>G (p.Pro470Arg) c.845C>G (p.Pro282Arg) c.887C>G (p.Pro296Arg) c.983C>G (p.Pro328Arg) c.1496C>G (p.Pro499Arg) c.1214C>G (p.Pro405Arg) c.1355C>G (p.Pro452Arg) c.982C>G (n.982C>G) c.1298C>G (p.Pro433Arg) c.914C>G (n.914C>G) c.2106+177352C>G (n.2106+177352C>G)
3	g.184322059C>T	CA355390701	EIF2B5,EIF4G1	c.1475C>T (p.Pro492Leu) c.1409C>T (p.Pro470Leu) c.845C>T (p.Pro282Leu) c.887C>T (p.Pro296Leu) c.983C>T (p.Pro328Leu) c.1496C>T (p.Pro499Leu) c.1214C>T (p.Pro405Leu) c.1355C>T (p.Pro452Leu) c.982C>T (n.982C>T) c.1298C>T (p.Pro433Leu) c.914C>T (n.914C>T) c.2106+177352C>T (n.2106+177352C>T)
3	g.184322060A>C	CA437329688	EIF2B5,EIF4G1	c.1476A>C (p.Pro492=) c.1410A>C (p.Pro470=) c.846A>C (p.Pro282=) c.888A>C (p.Pro296=) c.984A>C (p.Pro328=) c.1497A>C (p.Pro499=) c.1215A>C (p.Pro405=) c.1356A>C (p.Pro452=) c.983A>C (n.983A>C) c.1299A>C (p.Pro433=) c.915A>C (n.915A>C) c.2106+177353A>C (n.2106+177353A>C)
3	g.184322060A>G	CA437329689	EIF2B5,EIF4G1	c.1476A>G (p.Pro492=) c.1410A>G (p.Pro470=) c.846A>G (p.Pro282=) c.888A>G (p.Pro296=) c.984A>G (p.Pro328=) c.1497A>G (p.Pro499=) c.1215A>G (p.Pro405=) c.1356A>G (p.Pro452=) c.983A>G (n.983A>G) c.1299A>G (p.Pro433=) c.915A>G (n.915A>G) c.2106+177353A>G (n.2106+177353A>G)
3	g.184322060A>T	CA437329690	EIF2B5,EIF4G1	c.1476A>T (p.Pro492=) c.1410A>T (p.Pro470=) c.846A>T (p.Pro282=) c.888A>T (p.Pro296=) c.984A>T (p.Pro328=) c.1497A>T (p.Pro499=) c.1215A>T (p.Pro405=) c.1356A>T (p.Pro452=) c.983A>T (n.983A>T) c.1299A>T (p.Pro433=) c.915A>T (n.915A>T) c.2106+177353A>T (n.2106+177353A>T)
3	g.184322061G>A	CA355390706	EIF2B5,EIF4G1	c.1477G>A (p.Ala493Thr) c.1411G>A (p.Ala471Thr) c.847G>A (p.Ala283Thr) c.889G>A (p.Ala297Thr) c.985G>A (p.Ala329Thr) c.1498G>A (p.Ala500Thr) c.1216G>A (p.Ala406Thr) c.1357G>A (p.Ala453Thr) c.984G>A (n.984G>A) c.1300G>A (p.Ala434Thr) c.916G>A (n.916G>A) c.2106+177354G>A (n.2106+177354G>A)	dbSNP gnomAD v2 gnomAD v4
3	g.184322061G>C	CA355390707	EIF2B5,EIF4G1	c.1477G>C (p.Ala493Pro) c.1411G>C (p.Ala471Pro) c.847G>C (p.Ala283Pro) c.889G>C (p.Ala297Pro) c.985G>C (p.Ala329Pro) c.1498G>C (p.Ala500Pro) c.1216G>C (p.Ala406Pro) c.1357G>C (p.Ala453Pro) c.984G>C (n.984G>C) c.1300G>C (p.Ala434Pro) c.916G>C (n.916G>C) c.2106+177354G>C (n.2106+177354G>C)
3	g.184322061G=	CA1425953180	EIF2B5,EIF4G1	c.1477G= (p.Ala493=) c.1411G= (p.Ala471=) c.847G= (p.Ala283=) c.889G= (p.Ala297=) c.985G= (p.Ala329=) c.1498G= (p.Ala500=) c.1216G= (p.Ala406=) c.1357G= (p.Ala453=) c.984G= (n.984G=) c.1300G= (p.Ala434=) c.916G= (n.916G=) c.2106+177354G= (n.2106+177354G=)
3	g.184322061G>T	CA355390709	EIF2B5,EIF4G1	c.1477G>T (p.Ala493Ser) c.1411G>T (p.Ala471Ser) c.847G>T (p.Ala283Ser) c.889G>T (p.Ala297Ser) c.985G>T (p.Ala329Ser) c.1498G>T (p.Ala500Ser) c.1216G>T (p.Ala406Ser) c.1357G>T (p.Ala453Ser) c.984G>T (n.984G>T) c.1300G>T (p.Ala434Ser) c.916G>T (n.916G>T) c.2106+177354G>T (n.2106+177354G>T)	dbSNP
3	g.184322062C>A	CA355390711	EIF2B5,EIF4G1	c.1478C>A (p.Ala493Asp) c.1412C>A (p.Ala471Asp) c.848C>A (p.Ala283Asp) c.890C>A (p.Ala297Asp) c.986C>A (p.Ala329Asp) c.1499C>A (p.Ala500Asp) c.1217C>A (p.Ala406Asp) c.1358C>A (p.Ala453Asp) c.985C>A (n.985C>A) c.1301C>A (p.Ala434Asp) c.917C>A (n.917C>A) c.2106+177355C>A (n.2106+177355C>A)	ClinVar dbSNP
3	g.184322062C=	CA1425953183	EIF2B5,EIF4G1	c.1478C= (p.Ala493=) c.1412C= (p.Ala471=) c.848C= (p.Ala283=) c.890C= (p.Ala297=) c.986C= (p.Ala329=) c.1499C= (p.Ala500=) c.1217C= (p.Ala406=) c.1358C= (p.Ala453=) c.985C= (n.985C=) c.1301C= (p.Ala434=) c.917C= (n.917C=) c.2106+177355C= (n.2106+177355C=)
3	g.184322062C>G	CA88863467	EIF2B5,EIF4G1	c.1478C>G (p.Ala493Gly) c.1412C>G (p.Ala471Gly) c.848C>G (p.Ala283Gly) c.890C>G (p.Ala297Gly) c.986C>G (p.Ala329Gly) c.1499C>G (p.Ala500Gly) c.1217C>G (p.Ala406Gly) c.1358C>G (p.Ala453Gly) c.985C>G (n.985C>G) c.1301C>G (p.Ala434Gly) c.917C>G (n.917C>G) c.2106+177355C>G (n.2106+177355C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322062C>T	CA355390715	EIF2B5,EIF4G1	c.1478C>T (p.Ala493Val) c.1412C>T (p.Ala471Val) c.848C>T (p.Ala283Val) c.890C>T (p.Ala297Val) c.986C>T (p.Ala329Val) c.1499C>T (p.Ala500Val) c.1217C>T (p.Ala406Val) c.1358C>T (p.Ala453Val) c.985C>T (n.985C>T) c.1301C>T (p.Ala434Val) c.917C>T (n.917C>T) c.2106+177355C>T (n.2106+177355C>T)	dbSNP gnomAD v3 gnomAD v4
3	g.184322063C>A	CA437329691	EIF2B5,EIF4G1	c.1479C>A (p.Ala493=) c.1413C>A (p.Ala471=) c.849C>A (p.Ala283=) c.891C>A (p.Ala297=) c.987C>A (p.Ala329=) c.1500C>A (p.Ala500=) c.1218C>A (p.Ala406=) c.1359C>A (p.Ala453=) c.986C>A (n.986C>A) c.1302C>A (p.Ala434=) c.918C>A (n.918C>A) c.2106+177356C>A (n.2106+177356C>A)
3	g.184322063C=	CA1425953186	EIF2B5,EIF4G1	c.1479C= (p.Ala493=) c.1413C= (p.Ala471=) c.849C= (p.Ala283=) c.891C= (p.Ala297=) c.987C= (p.Ala329=) c.1500C= (p.Ala500=) c.1218C= (p.Ala406=) c.1359C= (p.Ala453=) c.986C= (n.986C=) c.1302C= (p.Ala434=) c.918C= (n.918C=) c.2106+177356C= (n.2106+177356C=)
3	g.184322063C>G	CA2732205	EIF2B5,EIF4G1	c.1479C>G (p.Ala493=) c.1413C>G (p.Ala471=) c.849C>G (p.Ala283=) c.891C>G (p.Ala297=) c.987C>G (p.Ala329=) c.1500C>G (p.Ala500=) c.1218C>G (p.Ala406=) c.1359C>G (p.Ala453=) c.986C>G (n.986C>G) c.1302C>G (p.Ala434=) c.918C>G (n.918C>G) c.2106+177356C>G (n.2106+177356C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.184322063C>T	CA437329692	EIF2B5,EIF4G1	c.1479C>T (p.Ala493=) c.1413C>T (p.Ala471=) c.849C>T (p.Ala283=) c.891C>T (p.Ala297=) c.987C>T (p.Ala329=) c.1500C>T (p.Ala500=) c.1218C>T (p.Ala406=) c.1359C>T (p.Ala453=) c.986C>T (n.986C>T) c.1302C>T (p.Ala434=) c.918C>T (n.918C>T) c.2106+177356C>T (n.2106+177356C>T)
3	g.184322064A>C	CA355390719	EIF2B5,EIF4G1	c.1480A>C (p.Asn494His) c.1414A>C (p.Asn472His) c.850A>C (p.Asn284His) c.892A>C (p.Asn298His) c.988A>C (p.Asn330His) c.1501A>C (p.Asn501His) c.1219A>C (p.Asn407His) c.1360A>C (p.Asn454His) c.987A>C (n.987A>C) c.1303A>C (p.Asn435His) c.919A>C (n.919A>C) c.2106+177357A>C (n.2106+177357A>C)	gnomAD v4
3	g.184322064A>G	CA355390721	EIF2B5,EIF4G1	c.1480A>G (p.Asn494Asp) c.1414A>G (p.Asn472Asp) c.850A>G (p.Asn284Asp) c.892A>G (p.Asn298Asp) c.988A>G (p.Asn330Asp) c.1501A>G (p.Asn501Asp) c.1219A>G (p.Asn407Asp) c.1360A>G (p.Asn454Asp) c.987A>G (n.987A>G) c.1303A>G (p.Asn435Asp) c.919A>G (n.919A>G) c.2106+177357A>G (n.2106+177357A>G)
3	g.184322064A>T	CA355390723	EIF2B5,EIF4G1	c.1480A>T (p.Asn494Tyr) c.1414A>T (p.Asn472Tyr) c.850A>T (p.Asn284Tyr) c.892A>T (p.Asn298Tyr) c.988A>T (p.Asn330Tyr) c.1501A>T (p.Asn501Tyr) c.1219A>T (p.Asn407Tyr) c.1360A>T (p.Asn454Tyr) c.987A>T (n.987A>T) c.1303A>T (p.Asn435Tyr) c.919A>T (n.919A>T) c.2106+177357A>T (n.2106+177357A>T)
3	g.184322065A>C	CA355390726	EIF2B5,EIF4G1	c.1481A>C (p.Asn494Thr) c.1415A>C (p.Asn472Thr) c.851A>C (p.Asn284Thr) c.893A>C (p.Asn298Thr) c.989A>C (p.Asn330Thr) c.1502A>C (p.Asn501Thr) c.1220A>C (p.Asn407Thr) c.1361A>C (p.Asn454Thr) c.988A>C (n.988A>C) c.1304A>C (p.Asn435Thr) c.920A>C (n.920A>C) c.2106+177358A>C (n.2106+177358A>C)
3	g.184322065A>G	CA355390728	EIF2B5,EIF4G1	c.1481A>G (p.Asn494Ser) c.1415A>G (p.Asn472Ser) c.851A>G (p.Asn284Ser) c.893A>G (p.Asn298Ser) c.989A>G (p.Asn330Ser) c.1502A>G (p.Asn501Ser) c.1220A>G (p.Asn407Ser) c.1361A>G (p.Asn454Ser) c.988A>G (n.988A>G) c.1304A>G (p.Asn435Ser) c.920A>G (n.920A>G) c.2106+177358A>G (n.2106+177358A>G)
3	g.184322065A>T	CA355390729	EIF2B5,EIF4G1	c.1481A>T (p.Asn494Ile) c.1415A>T (p.Asn472Ile) c.851A>T (p.Asn284Ile) c.893A>T (p.Asn298Ile) c.989A>T (p.Asn330Ile) c.1502A>T (p.Asn501Ile) c.1220A>T (p.Asn407Ile) c.1361A>T (p.Asn454Ile) c.988A>T (n.988A>T) c.1304A>T (p.Asn435Ile) c.920A>T (n.920A>T) c.2106+177358A>T (n.2106+177358A>T)
3	g.184322066C>A	CA355390734	EIF2B5,EIF4G1	c.1482C>A (p.Asn494Lys) c.1416C>A (p.Asn472Lys) c.852C>A (p.Asn284Lys) c.894C>A (p.Asn298Lys) c.990C>A (p.Asn330Lys) c.1503C>A (p.Asn501Lys) c.1221C>A (p.Asn407Lys) c.1362C>A (p.Asn454Lys) c.989C>A (n.989C>A) c.1305C>A (p.Asn435Lys) c.921C>A (n.921C>A) c.2106+177359C>A (n.2106+177359C>A)
3	g.184322066C=	CA1425953188	EIF2B5,EIF4G1	c.1482C= (p.Asn494=) c.1416C= (p.Asn472=) c.852C= (p.Asn284=) c.894C= (p.Asn298=) c.990C= (p.Asn330=) c.1503C= (p.Asn501=) c.1221C= (p.Asn407=) c.1362C= (p.Asn454=) c.989C= (n.989C=) c.1305C= (p.Asn435=) c.921C= (n.921C=) c.2106+177359C= (n.2106+177359C=)
3	g.184322066C>G	CA355390732	EIF2B5,EIF4G1	c.1482C>G (p.Asn494Lys) c.1416C>G (p.Asn472Lys) c.852C>G (p.Asn284Lys) c.894C>G (p.Asn298Lys) c.990C>G (p.Asn330Lys) c.1503C>G (p.Asn501Lys) c.1221C>G (p.Asn407Lys) c.1362C>G (p.Asn454Lys) c.989C>G (n.989C>G) c.1305C>G (p.Asn435Lys) c.921C>G (n.921C>G) c.2106+177359C>G (n.2106+177359C>G)
3	g.184322066C>T	CA437329693	EIF2B5,EIF4G1	c.1482C>T (p.Asn494=) c.1416C>T (p.Asn472=) c.852C>T (p.Asn284=) c.894C>T (p.Asn298=) c.990C>T (p.Asn330=) c.1503C>T (p.Asn501=) c.1221C>T (p.Asn407=) c.1362C>T (p.Asn454=) c.989C>T (n.989C>T) c.1305C>T (p.Asn435=) c.921C>T (n.921C>T) c.2106+177359C>T (n.2106+177359C>T)	dbSNP gnomAD v3 gnomAD v4
3	g.184322067T>A	CA355390736	EIF2B5,EIF4G1	c.1483T>A (p.Leu495Met) c.1417T>A (p.Leu473Met) c.853T>A (p.Leu285Met) c.895T>A (p.Leu299Met) c.991T>A (p.Leu331Met) c.1504T>A (p.Leu502Met) c.1222T>A (p.Leu408Met) c.1363T>A (p.Leu455Met) c.990T>A (n.990T>A) c.1306T>A (p.Leu436Met) c.922T>A (n.922T>A) c.2106+177360T>A (n.2106+177360T>A)	gnomAD v4
3	g.184322067T>C	CA437329694	EIF2B5,EIF4G1	c.1483T>C (p.Leu495=) c.1417T>C (p.Leu473=) c.853T>C (p.Leu285=) c.895T>C (p.Leu299=) c.991T>C (p.Leu331=) c.1504T>C (p.Leu502=) c.1222T>C (p.Leu408=) c.1363T>C (p.Leu455=) c.990T>C (n.990T>C) c.1306T>C (p.Leu436=) c.922T>C (n.922T>C) c.2106+177360T>C (n.2106+177360T>C)	dbSNP gnomAD v3 gnomAD v4
3	g.184322067T>G	CA355390738	EIF2B5,EIF4G1	c.1483T>G (p.Leu495Val) c.1417T>G (p.Leu473Val) c.853T>G (p.Leu285Val) c.895T>G (p.Leu299Val) c.991T>G (p.Leu331Val) c.1504T>G (p.Leu502Val) c.1222T>G (p.Leu408Val) c.1363T>G (p.Leu455Val) c.990T>G (n.990T>G) c.1306T>G (p.Leu436Val) c.922T>G (n.922T>G) c.2106+177360T>G (n.2106+177360T>G)
3	g.184322067T=	CA1425953189	EIF2B5,EIF4G1	c.1483T= (p.Leu495=) c.1417T= (p.Leu473=) c.853T= (p.Leu285=) c.895T= (p.Leu299=) c.991T= (p.Leu331=) c.1504T= (p.Leu502=) c.1222T= (p.Leu408=) c.1363T= (p.Leu455=) c.990T= (n.990T=) c.1306T= (p.Leu436=) c.922T= (n.922T=) c.2106+177360T= (n.2106+177360T=)
3	g.184322068T>A	CA355390739	EIF2B5,EIF4G1	c.1484T>A (p.Leu495Ter) c.1418T>A (p.Leu473Ter) c.854T>A (p.Leu285Ter) c.896T>A (p.Leu299Ter) c.992T>A (p.Leu331Ter) c.1505T>A (p.Leu502Ter) c.1223T>A (p.Leu408Ter) c.1364T>A (p.Leu455Ter) c.991T>A (n.991T>A) c.1307T>A (p.Leu436Ter) c.923T>A (n.923T>A) c.2106+177361T>A (n.2106+177361T>A)
3	g.184322068T>C	CA355390741	EIF2B5,EIF4G1	c.1484T>C (p.Leu495Ser) c.1418T>C (p.Leu473Ser) c.854T>C (p.Leu285Ser) c.896T>C (p.Leu299Ser) c.992T>C (p.Leu331Ser) c.1505T>C (p.Leu502Ser) c.1223T>C (p.Leu408Ser) c.1364T>C (p.Leu455Ser) c.991T>C (n.991T>C) c.1307T>C (p.Leu436Ser) c.923T>C (n.923T>C) c.2106+177361T>C (n.2106+177361T>C)
3	g.184322068T>G	CA355390740	EIF2B5,EIF4G1	c.1484T>G (p.Leu495Trp) c.1418T>G (p.Leu473Trp) c.854T>G (p.Leu285Trp) c.896T>G (p.Leu299Trp) c.992T>G (p.Leu331Trp) c.1505T>G (p.Leu502Trp) c.1223T>G (p.Leu408Trp) c.1364T>G (p.Leu455Trp) c.991T>G (n.991T>G) c.1307T>G (p.Leu436Trp) c.923T>G (n.923T>G) c.2106+177361T>G (n.2106+177361T>G)
3	g.184322069G>A	CA437329695	EIF2B5,EIF4G1	c.1485G>A (p.Leu495=) c.1419G>A (p.Leu473=) c.855G>A (p.Leu285=) c.897G>A (p.Leu299=) c.993G>A (p.Leu331=) c.1506G>A (p.Leu502=) c.1224G>A (p.Leu408=) c.1365G>A (p.Leu455=) c.992G>A (n.992G>A) c.1308G>A (p.Leu436=) c.924G>A (n.924G>A) c.2106+177362G>A (n.2106+177362G>A)
3	g.184322069G>C	CA355390744	EIF2B5,EIF4G1	c.1485G>C (p.Leu495Phe) c.1419G>C (p.Leu473Phe) c.855G>C (p.Leu285Phe) c.897G>C (p.Leu299Phe) c.993G>C (p.Leu331Phe) c.1506G>C (p.Leu502Phe) c.1224G>C (p.Leu408Phe) c.1365G>C (p.Leu455Phe) c.992G>C (n.992G>C) c.1308G>C (p.Leu436Phe) c.924G>C (n.924G>C) c.2106+177362G>C (n.2106+177362G>C)
3	g.184322069G>T	CA355390746	EIF2B5,EIF4G1	c.1485G>T (p.Leu495Phe) c.1419G>T (p.Leu473Phe) c.855G>T (p.Leu285Phe) c.897G>T (p.Leu299Phe) c.993G>T (p.Leu331Phe) c.1506G>T (p.Leu502Phe) c.1224G>T (p.Leu408Phe) c.1365G>T (p.Leu455Phe) c.992G>T (n.992G>T) c.1308G>T (p.Leu436Phe) c.924G>T (n.924G>T) c.2106+177362G>T (n.2106+177362G>T)
3	g.184322070T>A	CA355390749	EIF2B5,EIF4G1	c.1486T>A (p.Ser496Thr) c.1420T>A (p.Ser474Thr) c.856T>A (p.Ser286Thr) c.898T>A (p.Ser300Thr) c.994T>A (p.Ser332Thr) c.1507T>A (p.Ser503Thr) c.1225T>A (p.Ser409Thr) c.1366T>A (p.Ser456Thr) c.993T>A (n.993T>A) c.1309T>A (p.Ser437Thr) c.925T>A (n.925T>A) c.2106+177363T>A (n.2106+177363T>A)	gnomAD v4
3	g.184322070T>C	CA355390753	EIF2B5,EIF4G1	c.1486T>C (p.Ser496Pro) c.1420T>C (p.Ser474Pro) c.856T>C (p.Ser286Pro) c.898T>C (p.Ser300Pro) c.994T>C (p.Ser332Pro) c.1507T>C (p.Ser503Pro) c.1225T>C (p.Ser409Pro) c.1366T>C (p.Ser456Pro) c.993T>C (n.993T>C) c.1309T>C (p.Ser437Pro) c.925T>C (n.925T>C) c.2106+177363T>C (n.2106+177363T>C)
3	g.184322070T>G	CA355390755	EIF2B5,EIF4G1	c.1486T>G (p.Ser496Ala) c.1420T>G (p.Ser474Ala) c.856T>G (p.Ser286Ala) c.898T>G (p.Ser300Ala) c.994T>G (p.Ser332Ala) c.1507T>G (p.Ser503Ala) c.1225T>G (p.Ser409Ala) c.1366T>G (p.Ser456Ala) c.993T>G (n.993T>G) c.1309T>G (p.Ser437Ala) c.925T>G (n.925T>G) c.2106+177363T>G (n.2106+177363T>G)
3	g.184322071C>A	CA355390761	EIF2B5,EIF4G1	c.1487C>A (p.Ser496Tyr) c.1421C>A (p.Ser474Tyr) c.857C>A (p.Ser286Tyr) c.899C>A (p.Ser300Tyr) c.995C>A (p.Ser332Tyr) c.1508C>A (p.Ser503Tyr) c.1226C>A (p.Ser409Tyr) c.1367C>A (p.Ser456Tyr) c.994C>A (n.994C>A) c.1310C>A (p.Ser437Tyr) c.926C>A (n.926C>A) c.2106+177364C>A (n.2106+177364C>A)
3	g.184322071C=	CA1425953191	EIF2B5,EIF4G1	c.1487C= (p.Ser496=) c.1421C= (p.Ser474=) c.857C= (p.Ser286=) c.899C= (p.Ser300=) c.995C= (p.Ser332=) c.1508C= (p.Ser503=) c.1226C= (p.Ser409=) c.1367C= (p.Ser456=) c.994C= (n.994C=) c.1310C= (p.Ser437=) c.926C= (n.926C=) c.2106+177364C= (n.2106+177364C=)
3	g.184322071C>G	CA355390763	EIF2B5,EIF4G1	c.1487C>G (p.Ser496Cys) c.1421C>G (p.Ser474Cys) c.857C>G (p.Ser286Cys) c.899C>G (p.Ser300Cys) c.995C>G (p.Ser332Cys) c.1508C>G (p.Ser503Cys) c.1226C>G (p.Ser409Cys) c.1367C>G (p.Ser456Cys) c.994C>G (n.994C>G) c.1310C>G (p.Ser437Cys) c.926C>G (n.926C>G) c.2106+177364C>G (n.2106+177364C>G)	gnomAD v4
3	g.184322071C>T	CA2732206	EIF2B5,EIF4G1	c.1487C>T (p.Ser496Phe) c.1421C>T (p.Ser474Phe) c.857C>T (p.Ser286Phe) c.899C>T (p.Ser300Phe) c.995C>T (p.Ser332Phe) c.1508C>T (p.Ser503Phe) c.1226C>T (p.Ser409Phe) c.1367C>T (p.Ser456Phe) c.994C>T (n.994C>T) c.1310C>T (p.Ser437Phe) c.926C>T (n.926C>T) c.2106+177364C>T (n.2106+177364C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.184322072T>A	CA437329698	EIF2B5,EIF4G1	c.1488T>A (p.Ser496=) c.1422T>A (p.Ser474=) c.858T>A (p.Ser286=) c.900T>A (p.Ser300=) c.996T>A (p.Ser332=) c.1509T>A (p.Ser503=) c.1227T>A (p.Ser409=) c.1368T>A (p.Ser456=) c.995T>A (n.995T>A) c.1311T>A (p.Ser437=) c.927T>A (n.927T>A) c.2106+177365T>A (n.2106+177365T>A)
3	g.184322072T>C	CA437329696	EIF2B5,EIF4G1	c.1488T>C (p.Ser496=) c.1422T>C (p.Ser474=) c.858T>C (p.Ser286=) c.900T>C (p.Ser300=) c.996T>C (p.Ser332=) c.1509T>C (p.Ser503=) c.1227T>C (p.Ser409=) c.1368T>C (p.Ser456=) c.995T>C (n.995T>C) c.1311T>C (p.Ser437=) c.927T>C (n.927T>C) c.2106+177365T>C (n.2106+177365T>C)
3	g.184322072T>G	CA437329697	EIF2B5,EIF4G1	c.1488T>G (p.Ser496=) c.1422T>G (p.Ser474=) c.858T>G (p.Ser286=) c.900T>G (p.Ser300=) c.996T>G (p.Ser332=) c.1509T>G (p.Ser503=) c.1227T>G (p.Ser409=) c.1368T>G (p.Ser456=) c.995T>G (n.995T>G) c.1311T>G (p.Ser437=) c.927T>G (n.927T>G) c.2106+177365T>G (n.2106+177365T>G)
3	g.184322073C>A	CA355390770	EIF2B5,EIF4G1	c.1489C>A (p.Gln497Lys) c.1423C>A (p.Gln475Lys) c.859C>A (p.Gln287Lys) c.901C>A (p.Gln301Lys) c.997C>A (p.Gln333Lys) c.1510C>A (p.Gln504Lys) c.1228C>A (p.Gln410Lys) c.1369C>A (p.Gln457Lys) c.996C>A (n.996C>A) c.1312C>A (p.Gln438Lys) c.928C>A (n.928C>A) c.2106+177366C>A (n.2106+177366C>A)
3	g.184322073C>G	CA355390772	EIF2B5,EIF4G1	c.1489C>G (p.Gln497Glu) c.1423C>G (p.Gln475Glu) c.859C>G (p.Gln287Glu) c.901C>G (p.Gln301Glu) c.997C>G (p.Gln333Glu) c.1510C>G (p.Gln504Glu) c.1228C>G (p.Gln410Glu) c.1369C>G (p.Gln457Glu) c.996C>G (n.996C>G) c.1312C>G (p.Gln438Glu) c.928C>G (n.928C>G) c.2106+177366C>G (n.2106+177366C>G)
3	g.184322073C>T	CA355390773	EIF2B5,EIF4G1	c.1489C>T (p.Gln497Ter) c.1423C>T (p.Gln475Ter) c.859C>T (p.Gln287Ter) c.901C>T (p.Gln301Ter) c.997C>T (p.Gln333Ter) c.1510C>T (p.Gln504Ter) c.1228C>T (p.Gln410Ter) c.1369C>T (p.Gln457Ter) c.996C>T (n.996C>T) c.1312C>T (p.Gln438Ter) c.928C>T (n.928C>T) c.2106+177366C>T (n.2106+177366C>T)
3	g.184322074A>C	CA355390783	EIF2B5,EIF4G1	c.1490A>C (p.Gln497Pro) c.1424A>C (p.Gln475Pro) c.860A>C (p.Gln287Pro) c.902A>C (p.Gln301Pro) c.998A>C (p.Gln333Pro) c.1511A>C (p.Gln504Pro) c.1229A>C (p.Gln410Pro) c.1370A>C (p.Gln457Pro) c.997A>C (n.997A>C) c.1313A>C (p.Gln438Pro) c.929A>C (n.929A>C) c.2106+177367A>C (n.2106+177367A>C)	gnomAD v4
3	g.184322074A>G	CA355390781	EIF2B5,EIF4G1	c.1490A>G (p.Gln497Arg) c.1424A>G (p.Gln475Arg) c.860A>G (p.Gln287Arg) c.902A>G (p.Gln301Arg) c.998A>G (p.Gln333Arg) c.1511A>G (p.Gln504Arg) c.1229A>G (p.Gln410Arg) c.1370A>G (p.Gln457Arg) c.997A>G (n.997A>G) c.1313A>G (p.Gln438Arg) c.929A>G (n.929A>G) c.2106+177367A>G (n.2106+177367A>G)	gnomAD v4
3	g.184322074A>T	CA355390776	EIF2B5,EIF4G1	c.1490A>T (p.Gln497Leu) c.1424A>T (p.Gln475Leu) c.860A>T (p.Gln287Leu) c.902A>T (p.Gln301Leu) c.998A>T (p.Gln333Leu) c.1511A>T (p.Gln504Leu) c.1229A>T (p.Gln410Leu) c.1370A>T (p.Gln457Leu) c.997A>T (n.997A>T) c.1313A>T (p.Gln438Leu) c.929A>T (n.929A>T) c.2106+177367A>T (n.2106+177367A>T)
3	g.184322075G>A	CA437329699	EIF2B5,EIF4G1	c.1491G>A (p.Gln497=) c.1425G>A (p.Gln475=) c.861G>A (p.Gln287=) c.903G>A (p.Gln301=) c.999G>A (p.Gln333=) c.1512G>A (p.Gln504=) c.1230G>A (p.Gln410=) c.1371G>A (p.Gln457=) c.998G>A (n.998G>A) c.1314G>A (p.Gln438=) c.930G>A (n.930G>A) c.2106+177368G>A (n.2106+177368G>A)
3	g.184322075G>C	CA355390786	EIF2B5,EIF4G1	c.1491G>C (p.Gln497His) c.1425G>C (p.Gln475His) c.861G>C (p.Gln287His) c.903G>C (p.Gln301His) c.999G>C (p.Gln333His) c.1512G>C (p.Gln504His) c.1230G>C (p.Gln410His) c.1371G>C (p.Gln457His) c.998G>C (n.998G>C) c.1314G>C (p.Gln438His) c.930G>C (n.930G>C) c.2106+177368G>C (n.2106+177368G>C)	dbSNP
3	g.184322075G=	CA1425953193	EIF2B5,EIF4G1	c.1491G= (p.Gln497=) c.1425G= (p.Gln475=) c.861G= (p.Gln287=) c.903G= (p.Gln301=) c.999G= (p.Gln333=) c.1512G= (p.Gln504=) c.1230G= (p.Gln410=) c.1371G= (p.Gln457=) c.998G= (n.998G=) c.1314G= (p.Gln438=) c.930G= (n.930G=) c.2106+177368G= (n.2106+177368G=)
3	g.184322075G>T	CA355390789	EIF2B5,EIF4G1	c.1491G>T (p.Gln497His) c.1425G>T (p.Gln475His) c.861G>T (p.Gln287His) c.903G>T (p.Gln301His) c.999G>T (p.Gln333His) c.1512G>T (p.Gln504His) c.1230G>T (p.Gln410His) c.1371G>T (p.Gln457His) c.998G>T (n.998G>T) c.1314G>T (p.Gln438His) c.930G>T (n.930G>T) c.2106+177368G>T (n.2106+177368G>T)	COSMIC
3	g.184322076A>C	CA355390793	EIF2B5,EIF4G1	c.1492A>C (p.Asn498His) c.1426A>C (p.Asn476His) c.862A>C (p.Asn288His) c.904A>C (p.Asn302His) c.1000A>C (p.Asn334His) c.1513A>C (p.Asn505His) c.1231A>C (p.Asn411His) c.1372A>C (p.Asn458His) c.999A>C (n.999A>C) c.1315A>C (p.Asn439His) c.931A>C (n.931A>C) c.2106+177369A>C (n.2106+177369A>C)
3	g.184322076A>G	CA355390794	EIF2B5,EIF4G1	c.1492A>G (p.Asn498Asp) c.1426A>G (p.Asn476Asp) c.862A>G (p.Asn288Asp) c.904A>G (p.Asn302Asp) c.1000A>G (p.Asn334Asp) c.1513A>G (p.Asn505Asp) c.1231A>G (p.Asn411Asp) c.1372A>G (p.Asn458Asp) c.999A>G (n.999A>G) c.1315A>G (p.Asn439Asp) c.931A>G (n.931A>G) c.2106+177369A>G (n.2106+177369A>G)
3	g.184322076A>T	CA355390797	EIF2B5,EIF4G1	c.1492A>T (p.Asn498Tyr) c.1426A>T (p.Asn476Tyr) c.862A>T (p.Asn288Tyr) c.904A>T (p.Asn302Tyr) c.1000A>T (p.Asn334Tyr) c.1513A>T (p.Asn505Tyr) c.1231A>T (p.Asn411Tyr) c.1372A>T (p.Asn458Tyr) c.999A>T (n.999A>T) c.1315A>T (p.Asn439Tyr) c.931A>T (n.931A>T) c.2106+177369A>T (n.2106+177369A>T)
3	g.184322077A>C	CA355390801	EIF2B5,EIF4G1	c.1493A>C (p.Asn498Thr) c.1427A>C (p.Asn476Thr) c.863A>C (p.Asn288Thr) c.905A>C (p.Asn302Thr) c.1001A>C (p.Asn334Thr) c.1514A>C (p.Asn505Thr) c.1232A>C (p.Asn411Thr) c.1373A>C (p.Asn458Thr) c.1000A>C (n.1000A>C) c.1316A>C (p.Asn439Thr) c.932A>C (n.932A>C) c.2106+177370A>C (n.2106+177370A>C)
3	g.184322077A>G	CA355390803	EIF2B5,EIF4G1	c.1493A>G (p.Asn498Ser) c.1427A>G (p.Asn476Ser) c.863A>G (p.Asn288Ser) c.905A>G (p.Asn302Ser) c.1001A>G (p.Asn334Ser) c.1514A>G (p.Asn505Ser) c.1232A>G (p.Asn411Ser) c.1373A>G (p.Asn458Ser) c.1000A>G (n.1000A>G) c.1316A>G (p.Asn439Ser) c.932A>G (n.932A>G) c.2106+177370A>G (n.2106+177370A>G)	gnomAD v4
3	g.184322077A>T	CA355390806	EIF2B5,EIF4G1	c.1493A>T (p.Asn498Ile) c.1427A>T (p.Asn476Ile) c.863A>T (p.Asn288Ile) c.905A>T (p.Asn302Ile) c.1001A>T (p.Asn334Ile) c.1514A>T (p.Asn505Ile) c.1232A>T (p.Asn411Ile) c.1373A>T (p.Asn458Ile) c.1000A>T (n.1000A>T) c.1316A>T (p.Asn439Ile) c.932A>T (n.932A>T) c.2106+177370A>T (n.2106+177370A>T)
3	g.184322078T>A	CA355390810	EIF2B5,EIF4G1	c.1494T>A (p.Asn498Lys) c.1428T>A (p.Asn476Lys) c.864T>A (p.Asn288Lys) c.906T>A (p.Asn302Lys) c.1002T>A (p.Asn334Lys) c.1515T>A (p.Asn505Lys) c.1233T>A (p.Asn411Lys) c.1374T>A (p.Asn458Lys) c.1001T>A (n.1001T>A) c.1317T>A (p.Asn439Lys) c.933T>A (n.933T>A) c.2106+177371T>A (n.2106+177371T>A)
3	g.184322078T>C	CA437329700	EIF2B5,EIF4G1	c.1494T>C (p.Asn498=) c.1428T>C (p.Asn476=) c.864T>C (p.Asn288=) c.906T>C (p.Asn302=) c.1002T>C (p.Asn334=) c.1515T>C (p.Asn505=) c.1233T>C (p.Asn411=) c.1374T>C (p.Asn458=) c.1001T>C (n.1001T>C) c.1317T>C (p.Asn439=) c.933T>C (n.933T>C) c.2106+177371T>C (n.2106+177371T>C)
3	g.184322078T>G	CA355390812	EIF2B5,EIF4G1	c.1494T>G (p.Asn498Lys) c.1428T>G (p.Asn476Lys) c.864T>G (p.Asn288Lys) c.906T>G (p.Asn302Lys) c.1002T>G (p.Asn334Lys) c.1515T>G (p.Asn505Lys) c.1233T>G (p.Asn411Lys) c.1374T>G (p.Asn458Lys) c.1001T>G (n.1001T>G) c.1317T>G (p.Asn439Lys) c.933T>G (n.933T>G) c.2106+177371T>G (n.2106+177371T>G)
3	g.184322079T>A	CA355390815	EIF2B5,EIF4G1	c.1495T>A (p.Leu499Met) c.1429T>A (p.Leu477Met) c.865T>A (p.Leu289Met) c.907T>A (p.Leu303Met) c.1003T>A (p.Leu335Met) c.1516T>A (p.Leu506Met) c.1234T>A (p.Leu412Met) c.1375T>A (p.Leu459Met) c.1002T>A (n.1002T>A) c.1318T>A (p.Leu440Met) c.934T>A (n.934T>A) c.2106+177372T>A (n.2106+177372T>A)
3	g.184322079T>C	CA437329701	EIF2B5,EIF4G1	c.1495T>C (p.Leu499=) c.1429T>C (p.Leu477=) c.865T>C (p.Leu289=) c.907T>C (p.Leu303=) c.1003T>C (p.Leu335=) c.1516T>C (p.Leu506=) c.1234T>C (p.Leu412=) c.1375T>C (p.Leu459=) c.1002T>C (n.1002T>C) c.1318T>C (p.Leu440=) c.934T>C (n.934T>C) c.2106+177372T>C (n.2106+177372T>C)
3	g.184322079T>G	CA355390818	EIF2B5,EIF4G1	c.1495T>G (p.Leu499Val) c.1429T>G (p.Leu477Val) c.865T>G (p.Leu289Val) c.907T>G (p.Leu303Val) c.1003T>G (p.Leu335Val) c.1516T>G (p.Leu506Val) c.1234T>G (p.Leu412Val) c.1375T>G (p.Leu459Val) c.1002T>G (n.1002T>G) c.1318T>G (p.Leu440Val) c.934T>G (n.934T>G) c.2106+177372T>G (n.2106+177372T>G)	gnomAD v4
3	g.184322080T>A	CA355390827	EIF2B5,EIF4G1	c.1496T>A (p.Leu499Ter) c.1430T>A (p.Leu477Ter) c.866T>A (p.Leu289Ter) c.908T>A (p.Leu303Ter) c.1004T>A (p.Leu335Ter) c.1517T>A (p.Leu506Ter) c.1235T>A (p.Leu412Ter) c.1376T>A (p.Leu459Ter) c.1003T>A (n.1003T>A) c.1319T>A (p.Leu440Ter) c.935T>A (n.935T>A) c.2106+177373T>A (n.2106+177373T>A)
3	g.184322080T>C	CA2732207	EIF2B5,EIF4G1	c.1496T>C (p.Leu499Ser) c.1430T>C (p.Leu477Ser) c.866T>C (p.Leu289Ser) c.908T>C (p.Leu303Ser) c.1004T>C (p.Leu335Ser) c.1517T>C (p.Leu506Ser) c.1235T>C (p.Leu412Ser) c.1376T>C (p.Leu459Ser) c.1003T>C (n.1003T>C) c.1319T>C (p.Leu440Ser) c.935T>C (n.935T>C) c.2106+177373T>C (n.2106+177373T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.184322080T>G	CA355390823	EIF2B5,EIF4G1	c.1496T>G (p.Leu499Trp) c.1430T>G (p.Leu477Trp) c.866T>G (p.Leu289Trp) c.908T>G (p.Leu303Trp) c.1004T>G (p.Leu335Trp) c.1517T>G (p.Leu506Trp) c.1235T>G (p.Leu412Trp) c.1376T>G (p.Leu459Trp) c.1003T>G (n.1003T>G) c.1319T>G (p.Leu440Trp) c.935T>G (n.935T>G) c.2106+177373T>G (n.2106+177373T>G)
3	g.184322080T=	CA1425953196	EIF2B5,EIF4G1	c.1496T= (p.Leu499=) c.1430T= (p.Leu477=) c.866T= (p.Leu289=) c.908T= (p.Leu303=) c.1004T= (p.Leu335=) c.1517T= (p.Leu506=) c.1235T= (p.Leu412=) c.1376T= (p.Leu459=) c.1003T= (n.1003T=) c.1319T= (p.Leu440=) c.935T= (n.935T=) c.2106+177373T= (n.2106+177373T=)
3	g.184322081G>A	CA437329702	EIF2B5,EIF4G1	c.1497G>A (p.Leu499=) c.1431G>A (p.Leu477=) c.867G>A (p.Leu289=) c.909G>A (p.Leu303=) c.1005G>A (p.Leu335=) c.1518G>A (p.Leu506=) c.1236G>A (p.Leu412=) c.1377G>A (p.Leu459=) c.1004G>A (n.1004G>A) c.1320G>A (p.Leu440=) c.936G>A (n.936G>A) c.2106+177374G>A (n.2106+177374G>A)	gnomAD v4
3	g.184322081G>C	CA355390833	EIF2B5,EIF4G1	c.1497G>C (p.Leu499Phe) c.1431G>C (p.Leu477Phe) c.867G>C (p.Leu289Phe) c.909G>C (p.Leu303Phe) c.1005G>C (p.Leu335Phe) c.1518G>C (p.Leu506Phe) c.1236G>C (p.Leu412Phe) c.1377G>C (p.Leu459Phe) c.1004G>C (n.1004G>C) c.1320G>C (p.Leu440Phe) c.936G>C (n.936G>C) c.2106+177374G>C (n.2106+177374G>C)
3	g.184322081G>T	CA355390832	EIF2B5,EIF4G1	c.1497G>T (p.Leu499Phe) c.1431G>T (p.Leu477Phe) c.867G>T (p.Leu289Phe) c.909G>T (p.Leu303Phe) c.1005G>T (p.Leu335Phe) c.1518G>T (p.Leu506Phe) c.1236G>T (p.Leu412Phe) c.1377G>T (p.Leu459Phe) c.1004G>T (n.1004G>T) c.1320G>T (p.Leu440Phe) c.936G>T (n.936G>T) c.2106+177374G>T (n.2106+177374G>T)
3	g.184322082G>A	CA355390836	EIF2B5,EIF4G1	c.1498G>A (p.Glu500Lys) c.1432G>A (p.Glu478Lys) c.868G>A (p.Glu290Lys) c.910G>A (p.Glu304Lys) c.1006G>A (p.Glu336Lys) c.1519G>A (p.Glu507Lys) c.1237G>A (p.Glu413Lys) c.1378G>A (p.Glu460Lys) c.1005G>A (n.1005G>A) c.1321G>A (p.Glu441Lys) c.937G>A (n.937G>A) c.2106+177375G>A (n.2106+177375G>A)
3	g.184322082G>C	CA355390839	EIF2B5,EIF4G1	c.1498G>C (p.Glu500Gln) c.1432G>C (p.Glu478Gln) c.868G>C (p.Glu290Gln) c.910G>C (p.Glu304Gln) c.1006G>C (p.Glu336Gln) c.1519G>C (p.Glu507Gln) c.1237G>C (p.Glu413Gln) c.1378G>C (p.Glu460Gln) c.1005G>C (n.1005G>C) c.1321G>C (p.Glu441Gln) c.937G>C (n.937G>C) c.2106+177375G>C (n.2106+177375G>C)	gnomAD v4
3	g.184322082G>T	CA355390841	EIF2B5,EIF4G1	c.1498G>T (p.Glu500Ter) c.1432G>T (p.Glu478Ter) c.868G>T (p.Glu290Ter) c.910G>T (p.Glu304Ter) c.1006G>T (p.Glu336Ter) c.1519G>T (p.Glu507Ter) c.1237G>T (p.Glu413Ter) c.1378G>T (p.Glu460Ter) c.1005G>T (n.1005G>T) c.1321G>T (p.Glu441Ter) c.937G>T (n.937G>T) c.2106+177375G>T (n.2106+177375G>T)
3	g.184322083A=	CA1425953197	EIF2B5,EIF4G1	c.1499A= (p.Glu500=) c.1433A= (p.Glu478=) c.869A= (p.Glu290=) c.911A= (p.Glu304=) c.1007A= (p.Glu336=) c.1520A= (p.Glu507=) c.1238A= (p.Glu413=) c.1379A= (p.Glu460=) c.1006A= (n.1006A=) c.1322A= (p.Glu441=) c.938A= (n.938A=) c.2106+177376A= (n.2106+177376A=)
3	g.184322083A>C	CA355390845	EIF2B5,EIF4G1	c.1499A>C (p.Glu500Ala) c.1433A>C (p.Glu478Ala) c.869A>C (p.Glu290Ala) c.911A>C (p.Glu304Ala) c.1007A>C (p.Glu336Ala) c.1520A>C (p.Glu507Ala) c.1238A>C (p.Glu413Ala) c.1379A>C (p.Glu460Ala) c.1006A>C (n.1006A>C) c.1322A>C (p.Glu441Ala) c.938A>C (n.938A>C) c.2106+177376A>C (n.2106+177376A>C)
3	g.184322083A>G	CA355390847	EIF2B5,EIF4G1	c.1499A>G (p.Glu500Gly) c.1433A>G (p.Glu478Gly) c.869A>G (p.Glu290Gly) c.911A>G (p.Glu304Gly) c.1007A>G (p.Glu336Gly) c.1520A>G (p.Glu507Gly) c.1238A>G (p.Glu413Gly) c.1379A>G (p.Glu460Gly) c.1006A>G (n.1006A>G) c.1322A>G (p.Glu441Gly) c.938A>G (n.938A>G) c.2106+177376A>G (n.2106+177376A>G)	dbSNP gnomAD v2 gnomAD v4
3	g.184322083A>T	CA355390850	EIF2B5,EIF4G1	c.1499A>T (p.Glu500Val) c.1433A>T (p.Glu478Val) c.869A>T (p.Glu290Val) c.911A>T (p.Glu304Val) c.1007A>T (p.Glu336Val) c.1520A>T (p.Glu507Val) c.1238A>T (p.Glu413Val) c.1379A>T (p.Glu460Val) c.1006A>T (n.1006A>T) c.1322A>T (p.Glu441Val) c.938A>T (n.938A>T) c.2106+177376A>T (n.2106+177376A>T)
3	g.184322084G>A	CA2732209	EIF2B5,EIF4G1	c.1500G>A (p.Glu500=) c.1434G>A (p.Glu478=) c.870G>A (p.Glu290=) c.912G>A (p.Glu304=) c.1008G>A (p.Glu336=) c.1521G>A (p.Glu507=) c.1239G>A (p.Glu413=) c.1380G>A (p.Glu460=) c.1007G>A (n.1007G>A) c.1323G>A (p.Glu441=) c.939G>A (n.939G>A) c.2106+177377G>A (n.2106+177377G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322084G>C	CA355390857	EIF2B5,EIF4G1	c.1500G>C (p.Glu500Asp) c.1434G>C (p.Glu478Asp) c.870G>C (p.Glu290Asp) c.912G>C (p.Glu304Asp) c.1008G>C (p.Glu336Asp) c.1521G>C (p.Glu507Asp) c.1239G>C (p.Glu413Asp) c.1380G>C (p.Glu460Asp) c.1007G>C (n.1007G>C) c.1323G>C (p.Glu441Asp) c.939G>C (n.939G>C) c.2106+177377G>C (n.2106+177377G>C)
3	g.184322084G=	CA1425953199	EIF2B5,EIF4G1	c.1500G= (p.Glu500=) c.1434G= (p.Glu478=) c.870G= (p.Glu290=) c.912G= (p.Glu304=) c.1008G= (p.Glu336=) c.1521G= (p.Glu507=) c.1239G= (p.Glu413=) c.1380G= (p.Glu460=) c.1007G= (n.1007G=) c.1323G= (p.Glu441=) c.939G= (n.939G=) c.2106+177377G= (n.2106+177377G=)
3	g.184322084G>T	CA355390855	EIF2B5,EIF4G1	c.1500G>T (p.Glu500Asp) c.1434G>T (p.Glu478Asp) c.870G>T (p.Glu290Asp) c.912G>T (p.Glu304Asp) c.1008G>T (p.Glu336Asp) c.1521G>T (p.Glu507Asp) c.1239G>T (p.Glu413Asp) c.1380G>T (p.Glu460Asp) c.1007G>T (n.1007G>T) c.1323G>T (p.Glu441Asp) c.939G>T (n.939G>T) c.2106+177377G>T (n.2106+177377G>T)
3	g.184322084_184322086dup	CA2668830535	EIF2B5,EIF4G1	c.1500_1502dup (p.Ala501_Ala502insAla) c.1434_1436dup (p.Ala479_Ala480insAla) c.870_872dup (p.Ala291_Ala292insAla) c.912_914dup (p.Ala305_Ala306insAla) c.1008_1010dup (p.Ala337_Ala338insAla) c.1521_1523dup (p.Ala508_Ala509insAla) c.1239_1241dup (p.Ala414_Ala415insAla) c.1380_1382dup (p.Ala461_Ala462insAla) c.1007_1009dup (n.1007_1009dup) c.1323_1325dup (p.Ala442_Ala443insAla) c.939_941dup (n.939_941dup) c.2106+177377_2106+177379dup (n.2106+177377_2106+177379dup)	dbSNP gnomAD v4
3	g.184322085G>A	CA355390864	EIF2B5,EIF4G1	c.1501G>A (p.Ala501Thr) c.1435G>A (p.Ala479Thr) c.871G>A (p.Ala291Thr) c.913G>A (p.Ala305Thr) c.1009G>A (p.Ala337Thr) c.1522G>A (p.Ala508Thr) c.1240G>A (p.Ala414Thr) c.1381G>A (p.Ala461Thr) c.1008G>A (n.1008G>A) c.1324G>A (p.Ala442Thr) c.940G>A (n.940G>A) c.2106+177378G>A (n.2106+177378G>A)
3	g.184322085G>C	CA355390867	EIF2B5,EIF4G1	c.1501G>C (p.Ala501Pro) c.1435G>C (p.Ala479Pro) c.871G>C (p.Ala291Pro) c.913G>C (p.Ala305Pro) c.1009G>C (p.Ala337Pro) c.1522G>C (p.Ala508Pro) c.1240G>C (p.Ala414Pro) c.1381G>C (p.Ala461Pro) c.1008G>C (n.1008G>C) c.1324G>C (p.Ala442Pro) c.940G>C (n.940G>C) c.2106+177378G>C (n.2106+177378G>C)
3	g.184322085G>T	CA355390871	EIF2B5,EIF4G1	c.1501G>T (p.Ala501Ser) c.1435G>T (p.Ala479Ser) c.871G>T (p.Ala291Ser) c.913G>T (p.Ala305Ser) c.1009G>T (p.Ala337Ser) c.1522G>T (p.Ala508Ser) c.1240G>T (p.Ala414Ser) c.1381G>T (p.Ala461Ser) c.1008G>T (n.1008G>T) c.1324G>T (p.Ala442Ser) c.940G>T (n.940G>T) c.2106+177378G>T (n.2106+177378G>T)
3	g.184322093_184322095dup	CA2732208	EIF2B5,EIF4G1	c.1509_1511dup (p.Ala504_Thr505insAla) c.1443_1445dup (p.Ala482_Thr483insAla) c.879_881dup (p.Ala294_Thr295insAla) c.921_923dup (p.Ala308_Thr309insAla) c.1017_1019dup (p.Ala340_Thr341insAla) c.1530_1532dup (p.Ala511_Thr512insAla) c.1248_1250dup (p.Ala417_Thr418insAla) c.1389_1391dup (p.Ala464_Thr465insAla) c.1016_1018dup (n.1016_1018dup) c.1332_1334dup (p.Ala445_Thr446insAla) c.948_950dup (n.948_950dup) c.2106+177386_2106+177388dup (n.2106+177386_2106+177388dup)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.184322086C>A	CA355390874	EIF2B5,EIF4G1	c.1502C>A (p.Ala501Glu) c.1436C>A (p.Ala479Glu) c.872C>A (p.Ala291Glu) c.914C>A (p.Ala305Glu) c.1010C>A (p.Ala337Glu) c.1523C>A (p.Ala508Glu) c.1241C>A (p.Ala414Glu) c.1382C>A (p.Ala461Glu) c.1009C>A (n.1009C>A) c.1325C>A (p.Ala442Glu) c.941C>A (n.941C>A) c.2106+177379C>A (n.2106+177379C>A)
3	g.184322086C>G	CA355390880	EIF2B5,EIF4G1	c.1502C>G (p.Ala501Gly) c.1436C>G (p.Ala479Gly) c.872C>G (p.Ala291Gly) c.914C>G (p.Ala305Gly) c.1010C>G (p.Ala337Gly) c.1523C>G (p.Ala508Gly) c.1241C>G (p.Ala414Gly) c.1382C>G (p.Ala461Gly) c.1009C>G (n.1009C>G) c.1325C>G (p.Ala442Gly) c.941C>G (n.941C>G) c.2106+177379C>G (n.2106+177379C>G)
3	g.184322086C>T	CA355390877	EIF2B5,EIF4G1	c.1502C>T (p.Ala501Val) c.1436C>T (p.Ala479Val) c.872C>T (p.Ala291Val) c.914C>T (p.Ala305Val) c.1010C>T (p.Ala337Val) c.1523C>T (p.Ala508Val) c.1241C>T (p.Ala414Val) c.1382C>T (p.Ala461Val) c.1009C>T (n.1009C>T) c.1325C>T (p.Ala442Val) c.941C>T (n.941C>T) c.2106+177379C>T (n.2106+177379C>T)
3	g.184322087A=	CA1425953202	EIF2B5,EIF4G1	c.1503A= (p.Ala501=) c.1437A= (p.Ala479=) c.873A= (p.Ala291=) c.915A= (p.Ala305=) c.1011A= (p.Ala337=) c.1524A= (p.Ala508=) c.1242A= (p.Ala414=) c.1383A= (p.Ala461=) c.1010A= (n.1010A=) c.1326A= (p.Ala442=) c.942A= (n.942A=) c.2106+177380A= (n.2106+177380A=)
3	g.184322087A>C	CA437329705	EIF2B5,EIF4G1	c.1503A>C (p.Ala501=) c.1437A>C (p.Ala479=) c.873A>C (p.Ala291=) c.915A>C (p.Ala305=) c.1011A>C (p.Ala337=) c.1524A>C (p.Ala508=) c.1242A>C (p.Ala414=) c.1383A>C (p.Ala461=) c.1010A>C (n.1010A>C) c.1326A>C (p.Ala442=) c.942A>C (n.942A>C) c.2106+177380A>C (n.2106+177380A>C)
3	g.184322087A>G	CA437329704	EIF2B5,EIF4G1	c.1503A>G (p.Ala501=) c.1437A>G (p.Ala479=) c.873A>G (p.Ala291=) c.915A>G (p.Ala305=) c.1011A>G (p.Ala337=) c.1524A>G (p.Ala508=) c.1242A>G (p.Ala414=) c.1383A>G (p.Ala461=) c.1010A>G (n.1010A>G) c.1326A>G (p.Ala442=) c.942A>G (n.942A>G) c.2106+177380A>G (n.2106+177380A>G)	dbSNP gnomAD v2 gnomAD v4
3	g.184322087A>T	CA437329703	EIF2B5,EIF4G1	c.1503A>T (p.Ala501=) c.1437A>T (p.Ala479=) c.873A>T (p.Ala291=) c.915A>T (p.Ala305=) c.1011A>T (p.Ala337=) c.1524A>T (p.Ala508=) c.1242A>T (p.Ala414=) c.1383A>T (p.Ala461=) c.1010A>T (n.1010A>T) c.1326A>T (p.Ala442=) c.942A>T (n.942A>T) c.2106+177380A>T (n.2106+177380A>T)
3	g.184322088G>A	CA2732210	EIF2B5,EIF4G1	c.1504G>A (p.Ala502Thr) c.1438G>A (p.Ala480Thr) c.874G>A (p.Ala292Thr) c.916G>A (p.Ala306Thr) c.1012G>A (p.Ala338Thr) c.1525G>A (p.Ala509Thr) c.1243G>A (p.Ala415Thr) c.1384G>A (p.Ala462Thr) c.1011G>A (n.1011G>A) c.1327G>A (p.Ala443Thr) c.943G>A (n.943G>A) c.2106+177381G>A (n.2106+177381G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322088G>C	CA355390887	EIF2B5,EIF4G1	c.1504G>C (p.Ala502Pro) c.1438G>C (p.Ala480Pro) c.874G>C (p.Ala292Pro) c.916G>C (p.Ala306Pro) c.1012G>C (p.Ala338Pro) c.1525G>C (p.Ala509Pro) c.1243G>C (p.Ala415Pro) c.1384G>C (p.Ala462Pro) c.1011G>C (n.1011G>C) c.1327G>C (p.Ala443Pro) c.943G>C (n.943G>C) c.2106+177381G>C (n.2106+177381G>C)
3	g.184322088G=	CA1425953204	EIF2B5,EIF4G1	c.1504G= (p.Ala502=) c.1438G= (p.Ala480=) c.874G= (p.Ala292=) c.916G= (p.Ala306=) c.1012G= (p.Ala338=) c.1525G= (p.Ala509=) c.1243G= (p.Ala415=) c.1384G= (p.Ala462=) c.1011G= (n.1011G=) c.1327G= (p.Ala443=) c.943G= (n.943G=) c.2106+177381G= (n.2106+177381G=)
3	g.184322088G>T	CA355390889	EIF2B5,EIF4G1	c.1504G>T (p.Ala502Ser) c.1438G>T (p.Ala480Ser) c.874G>T (p.Ala292Ser) c.916G>T (p.Ala306Ser) c.1012G>T (p.Ala338Ser) c.1525G>T (p.Ala509Ser) c.1243G>T (p.Ala415Ser) c.1384G>T (p.Ala462Ser) c.1011G>T (n.1011G>T) c.1327G>T (p.Ala443Ser) c.943G>T (n.943G>T) c.2106+177381G>T (n.2106+177381G>T)
3	g.184322089C>A	CA355390893	EIF2B5,EIF4G1	c.1505C>A (p.Ala502Glu) c.1439C>A (p.Ala480Glu) c.875C>A (p.Ala292Glu) c.917C>A (p.Ala306Glu) c.1013C>A (p.Ala338Glu) c.1526C>A (p.Ala509Glu) c.1244C>A (p.Ala415Glu) c.1385C>A (p.Ala462Glu) c.1012C>A (n.1012C>A) c.1328C>A (p.Ala443Glu) c.944C>A (n.944C>A) c.2106+177382C>A (n.2106+177382C>A)
3	g.184322089C=	CA1425953206	EIF2B5,EIF4G1	c.1505C= (p.Ala502=) c.1439C= (p.Ala480=) c.875C= (p.Ala292=) c.917C= (p.Ala306=) c.1013C= (p.Ala338=) c.1526C= (p.Ala509=) c.1244C= (p.Ala415=) c.1385C= (p.Ala462=) c.1012C= (n.1012C=) c.1328C= (p.Ala443=) c.944C= (n.944C=) c.2106+177382C= (n.2106+177382C=)
3	g.184322089C>G	CA355390895	EIF2B5,EIF4G1	c.1505C>G (p.Ala502Gly) c.1439C>G (p.Ala480Gly) c.875C>G (p.Ala292Gly) c.917C>G (p.Ala306Gly) c.1013C>G (p.Ala338Gly) c.1526C>G (p.Ala509Gly) c.1244C>G (p.Ala415Gly) c.1385C>G (p.Ala462Gly) c.1012C>G (n.1012C>G) c.1328C>G (p.Ala443Gly) c.944C>G (n.944C>G) c.2106+177382C>G (n.2106+177382C>G)
3	g.184322089C>T	CA128911	EIF2B5,EIF4G1	c.1505C>T (p.Ala502Val) c.1439C>T (p.Ala480Val) c.875C>T (p.Ala292Val) c.917C>T (p.Ala306Val) c.1013C>T (p.Ala338Val) c.1526C>T (p.Ala509Val) c.1244C>T (p.Ala415Val) c.1385C>T (p.Ala462Val) c.1012C>T (n.1012C>T) c.1328C>T (p.Ala443Val) c.944C>T (n.944C>T) c.2106+177382C>T (n.2106+177382C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.184322090A=	CA1425953209	EIF2B5,EIF4G1	c.1506A= (p.Ala502=) c.1440A= (p.Ala480=) c.876A= (p.Ala292=) c.918A= (p.Ala306=) c.1014A= (p.Ala338=) c.1527A= (p.Ala509=) c.1245A= (p.Ala415=) c.1386A= (p.Ala462=) c.1013A= (n.1013A=) c.1329A= (p.Ala443=) c.945A= (n.945A=) c.2106+177383A= (n.2106+177383A=)
3	g.184322090A>C	CA437329706	EIF2B5,EIF4G1	c.1506A>C (p.Ala502=) c.1440A>C (p.Ala480=) c.876A>C (p.Ala292=) c.918A>C (p.Ala306=) c.1014A>C (p.Ala338=) c.1527A>C (p.Ala509=) c.1245A>C (p.Ala415=) c.1386A>C (p.Ala462=) c.1013A>C (n.1013A>C) c.1329A>C (p.Ala443=) c.945A>C (n.945A>C) c.2106+177383A>C (n.2106+177383A>C)	dbSNP gnomAD v4
3	g.184322090A>G	CA437329707	EIF2B5,EIF4G1	c.1506A>G (p.Ala502=) c.1440A>G (p.Ala480=) c.876A>G (p.Ala292=) c.918A>G (p.Ala306=) c.1014A>G (p.Ala338=) c.1527A>G (p.Ala509=) c.1245A>G (p.Ala415=) c.1386A>G (p.Ala462=) c.1013A>G (n.1013A>G) c.1329A>G (p.Ala443=) c.945A>G (n.945A>G) c.2106+177383A>G (n.2106+177383A>G)	dbSNP gnomAD v4
3	g.184322090A>T	CA437329708	EIF2B5,EIF4G1	c.1506A>T (p.Ala502=) c.1440A>T (p.Ala480=) c.876A>T (p.Ala292=) c.918A>T (p.Ala306=) c.1014A>T (p.Ala338=) c.1527A>T (p.Ala509=) c.1245A>T (p.Ala415=) c.1386A>T (p.Ala462=) c.1013A>T (n.1013A>T) c.1329A>T (p.Ala443=) c.945A>T (n.945A>T) c.2106+177383A>T (n.2106+177383A>T)
3	g.184322091G>A	CA355390901	EIF2B5,EIF4G1	c.1507G>A (p.Ala503Thr) c.1441G>A (p.Ala481Thr) c.877G>A (p.Ala293Thr) c.919G>A (p.Ala307Thr) c.1015G>A (p.Ala339Thr) c.1528G>A (p.Ala510Thr) c.1246G>A (p.Ala416Thr) c.1387G>A (p.Ala463Thr) c.1014G>A (n.1014G>A) c.1330G>A (p.Ala444Thr) c.946G>A (n.946G>A) c.2106+177384G>A (n.2106+177384G>A)
3	g.184322091G>C	CA2732211	EIF2B5,EIF4G1	c.1507G>C (p.Ala503Pro) c.1441G>C (p.Ala481Pro) c.877G>C (p.Ala293Pro) c.919G>C (p.Ala307Pro) c.1015G>C (p.Ala339Pro) c.1528G>C (p.Ala510Pro) c.1246G>C (p.Ala416Pro) c.1387G>C (p.Ala463Pro) c.1014G>C (n.1014G>C) c.1330G>C (p.Ala444Pro) c.946G>C (n.946G>C) c.2106+177384G>C (n.2106+177384G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.184322091G=	CA1425953211	EIF2B5,EIF4G1	c.1507G= (p.Ala503=) c.1441G= (p.Ala481=) c.877G= (p.Ala293=) c.919G= (p.Ala307=) c.1015G= (p.Ala339=) c.1528G= (p.Ala510=) c.1246G= (p.Ala416=) c.1387G= (p.Ala463=) c.1014G= (n.1014G=) c.1330G= (p.Ala444=) c.946G= (n.946G=) c.2106+177384G= (n.2106+177384G=)
3	g.184322091G>T	CA355390904	EIF2B5,EIF4G1	c.1507G>T (p.Ala503Ser) c.1441G>T (p.Ala481Ser) c.877G>T (p.Ala293Ser) c.919G>T (p.Ala307Ser) c.1015G>T (p.Ala339Ser) c.1528G>T (p.Ala510Ser) c.1246G>T (p.Ala416Ser) c.1387G>T (p.Ala463Ser) c.1014G>T (n.1014G>T) c.1330G>T (p.Ala444Ser) c.946G>T (n.946G>T) c.2106+177384G>T (n.2106+177384G>T)
3	g.184322092C>A	CA355390907	EIF2B5,EIF4G1	c.1508C>A (p.Ala503Glu) c.1442C>A (p.Ala481Glu) c.878C>A (p.Ala293Glu) c.920C>A (p.Ala307Glu) c.1016C>A (p.Ala339Glu) c.1529C>A (p.Ala510Glu) c.1247C>A (p.Ala416Glu) c.1388C>A (p.Ala463Glu) c.1015C>A (n.1015C>A) c.1331C>A (p.Ala444Glu) c.947C>A (n.947C>A) c.2106+177385C>A (n.2106+177385C>A)
3	g.184322092C>G	CA355390909	EIF2B5,EIF4G1	c.1508C>G (p.Ala503Gly) c.1442C>G (p.Ala481Gly) c.878C>G (p.Ala293Gly) c.920C>G (p.Ala307Gly) c.1016C>G (p.Ala339Gly) c.1529C>G (p.Ala510Gly) c.1247C>G (p.Ala416Gly) c.1388C>G (p.Ala463Gly) c.1015C>G (n.1015C>G) c.1331C>G (p.Ala444Gly) c.947C>G (n.947C>G) c.2106+177385C>G (n.2106+177385C>G)
3	g.184322092C>T	CA355390912	EIF2B5,EIF4G1	c.1508C>T (p.Ala503Val) c.1442C>T (p.Ala481Val) c.878C>T (p.Ala293Val) c.920C>T (p.Ala307Val) c.1016C>T (p.Ala339Val) c.1529C>T (p.Ala510Val) c.1247C>T (p.Ala416Val) c.1388C>T (p.Ala463Val) c.1015C>T (n.1015C>T) c.1331C>T (p.Ala444Val) c.947C>T (n.947C>T) c.2106+177385C>T (n.2106+177385C>T)
3	g.184322093A>C	CA437329709	EIF2B5,EIF4G1	c.1509A>C (p.Ala503=) c.1443A>C (p.Ala481=) c.879A>C (p.Ala293=) c.921A>C (p.Ala307=) c.1017A>C (p.Ala339=) c.1530A>C (p.Ala510=) c.1248A>C (p.Ala416=) c.1389A>C (p.Ala463=) c.1016A>C (n.1016A>C) c.1332A>C (p.Ala444=) c.948A>C (n.948A>C) c.2106+177386A>C (n.2106+177386A>C)
3	g.184322093A>G	CA437329710	EIF2B5,EIF4G1	c.1509A>G (p.Ala503=) c.1443A>G (p.Ala481=) c.879A>G (p.Ala293=) c.921A>G (p.Ala307=) c.1017A>G (p.Ala339=) c.1530A>G (p.Ala510=) c.1248A>G (p.Ala416=) c.1389A>G (p.Ala463=) c.1016A>G (n.1016A>G) c.1332A>G (p.Ala444=) c.948A>G (n.948A>G) c.2106+177386A>G (n.2106+177386A>G)
3	g.184322093A>T	CA437329711	EIF2B5,EIF4G1	c.1509A>T (p.Ala503=) c.1443A>T (p.Ala481=) c.879A>T (p.Ala293=) c.921A>T (p.Ala307=) c.1017A>T (p.Ala339=) c.1530A>T (p.Ala510=) c.1248A>T (p.Ala416=) c.1389A>T (p.Ala463=) c.1016A>T (n.1016A>T) c.1332A>T (p.Ala444=) c.948A>T (n.948A>T) c.2106+177386A>T (n.2106+177386A>T)
3	g.184322094G>A	CA355390917	EIF2B5,EIF4G1	c.1510G>A (p.Ala504Thr) c.1444G>A (p.Ala482Thr) c.880G>A (p.Ala294Thr) c.922G>A (p.Ala308Thr) c.1018G>A (p.Ala340Thr) c.1531G>A (p.Ala511Thr) c.1249G>A (p.Ala417Thr) c.1390G>A (p.Ala464Thr) c.1017G>A (n.1017G>A) c.1333G>A (p.Ala445Thr) c.949G>A (n.949G>A) c.2106+177387G>A (n.2106+177387G>A)	dbSNP gnomAD v4 COSMIC
3	g.184322094G>C	CA355390920	EIF2B5,EIF4G1	c.1510G>C (p.Ala504Pro) c.1444G>C (p.Ala482Pro) c.880G>C (p.Ala294Pro) c.922G>C (p.Ala308Pro) c.1018G>C (p.Ala340Pro) c.1531G>C (p.Ala511Pro) c.1249G>C (p.Ala417Pro) c.1390G>C (p.Ala464Pro) c.1017G>C (n.1017G>C) c.1333G>C (p.Ala445Pro) c.949G>C (n.949G>C) c.2106+177387G>C (n.2106+177387G>C)
3	g.184322094G>T	CA355390915	EIF2B5,EIF4G1	c.1510G>T (p.Ala504Ser) c.1444G>T (p.Ala482Ser) c.880G>T (p.Ala294Ser) c.922G>T (p.Ala308Ser) c.1018G>T (p.Ala340Ser) c.1531G>T (p.Ala511Ser) c.1249G>T (p.Ala417Ser) c.1390G>T (p.Ala464Ser) c.1017G>T (n.1017G>T) c.1333G>T (p.Ala445Ser) c.949G>T (n.949G>T) c.2106+177387G>T (n.2106+177387G>T)
3	g.184322095C>A	CA88863500	EIF2B5,EIF4G1	c.1511C>A (p.Ala504Asp) c.1445C>A (p.Ala482Asp) c.881C>A (p.Ala294Asp) c.923C>A (p.Ala308Asp) c.1019C>A (p.Ala340Asp) c.1532C>A (p.Ala511Asp) c.1250C>A (p.Ala417Asp) c.1391C>A (p.Ala464Asp) c.1018C>A (n.1018C>A) c.1334C>A (p.Ala445Asp) c.950C>A (n.950C>A) c.2106+177388C>A (n.2106+177388C>A)	dbSNP
3	g.184322095C=	CA1425953213	EIF2B5,EIF4G1	c.1511C= (p.Ala504=) c.1445C= (p.Ala482=) c.881C= (p.Ala294=) c.923C= (p.Ala308=) c.1019C= (p.Ala340=) c.1532C= (p.Ala511=) c.1250C= (p.Ala417=) c.1391C= (p.Ala464=) c.1018C= (n.1018C=) c.1334C= (p.Ala445=) c.950C= (n.950C=) c.2106+177388C= (n.2106+177388C=)
3	g.184322095C>G	CA355390927	EIF2B5,EIF4G1	c.1511C>G (p.Ala504Gly) c.1445C>G (p.Ala482Gly) c.881C>G (p.Ala294Gly) c.923C>G (p.Ala308Gly) c.1019C>G (p.Ala340Gly) c.1532C>G (p.Ala511Gly) c.1250C>G (p.Ala417Gly) c.1391C>G (p.Ala464Gly) c.1018C>G (n.1018C>G) c.1334C>G (p.Ala445Gly) c.950C>G (n.950C>G) c.2106+177388C>G (n.2106+177388C>G)
3	g.184322095C>T	CA355390925	EIF2B5,EIF4G1	c.1511C>T (p.Ala504Val) c.1445C>T (p.Ala482Val) c.881C>T (p.Ala294Val) c.923C>T (p.Ala308Val) c.1019C>T (p.Ala340Val) c.1532C>T (p.Ala511Val) c.1250C>T (p.Ala417Val) c.1391C>T (p.Ala464Val) c.1018C>T (n.1018C>T) c.1334C>T (p.Ala445Val) c.950C>T (n.950C>T) c.2106+177388C>T (n.2106+177388C>T)
3	g.184322096C>A	CA437329712	EIF2B5,EIF4G1	c.1512C>A (p.Ala504=) c.1446C>A (p.Ala482=) c.882C>A (p.Ala294=) c.924C>A (p.Ala308=) c.1020C>A (p.Ala340=) c.1533C>A (p.Ala511=) c.1251C>A (p.Ala417=) c.1392C>A (p.Ala464=) c.1019C>A (n.1019C>A) c.1335C>A (p.Ala445=) c.951C>A (n.951C>A) c.2106+177389C>A (n.2106+177389C>A)
3	g.184322096C>G	CA437329713	EIF2B5,EIF4G1	c.1512C>G (p.Ala504=) c.1446C>G (p.Ala482=) c.882C>G (p.Ala294=) c.924C>G (p.Ala308=) c.1020C>G (p.Ala340=) c.1533C>G (p.Ala511=) c.1251C>G (p.Ala417=) c.1392C>G (p.Ala464=) c.1019C>G (n.1019C>G) c.1335C>G (p.Ala445=) c.951C>G (n.951C>G) c.2106+177389C>G (n.2106+177389C>G)	gnomAD v4
3	g.184322096C>T	CA437329714	EIF2B5,EIF4G1	c.1512C>T (p.Ala504=) c.1446C>T (p.Ala482=) c.882C>T (p.Ala294=) c.924C>T (p.Ala308=) c.1020C>T (p.Ala340=) c.1533C>T (p.Ala511=) c.1251C>T (p.Ala417=) c.1392C>T (p.Ala464=) c.1019C>T (n.1019C>T) c.1335C>T (p.Ala445=) c.951C>T (n.951C>T) c.2106+177389C>T (n.2106+177389C>T)	gnomAD v4
3	g.184322097A>C	CA355390932	EIF2B5,EIF4G1	c.1513A>C (p.Thr505Pro) c.1447A>C (p.Thr483Pro) c.883A>C (p.Thr295Pro) c.925A>C (p.Thr309Pro) c.1021A>C (p.Thr341Pro) c.1534A>C (p.Thr512Pro) c.1252A>C (p.Thr418Pro) c.1393A>C (p.Thr465Pro) c.1020A>C (n.1020A>C) c.1336A>C (p.Thr446Pro) c.952A>C (n.952A>C) c.2106+177390A>C (n.2106+177390A>C)	gnomAD v4
3	g.184322097A>G	CA355390935	EIF2B5,EIF4G1	c.1513A>G (p.Thr505Ala) c.1447A>G (p.Thr483Ala) c.883A>G (p.Thr295Ala) c.925A>G (p.Thr309Ala) c.1021A>G (p.Thr341Ala) c.1534A>G (p.Thr512Ala) c.1252A>G (p.Thr418Ala) c.1393A>G (p.Thr465Ala) c.1020A>G (n.1020A>G) c.1336A>G (p.Thr446Ala) c.952A>G (n.952A>G) c.2106+177390A>G (n.2106+177390A>G)
3	g.184322097A>T	CA355390936	EIF2B5,EIF4G1	c.1513A>T (p.Thr505Ser) c.1447A>T (p.Thr483Ser) c.883A>T (p.Thr295Ser) c.925A>T (p.Thr309Ser) c.1021A>T (p.Thr341Ser) c.1534A>T (p.Thr512Ser) c.1252A>T (p.Thr418Ser) c.1393A>T (p.Thr465Ser) c.1020A>T (n.1020A>T) c.1336A>T (p.Thr446Ser) c.952A>T (n.952A>T) c.2106+177390A>T (n.2106+177390A>T)

Number of alleles fetched