Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.184372836G>ACA355461796EIF2B5,THPOc.1159C>T (p.Leu387=)
c.739C>T (p.Leu247=)
c.722C>T (p.Pro241Leu)
c.623C>T (p.Pro208Leu)
c.2106+228129G>A (n.2106+228129G>A)
c.727C>T (p.Leu243=)
c.1031C>T (p.Pro344Leu)
3g.184372836G>CCA355461797EIF2B5,THPOc.1159C>G (p.Leu387Val)
c.739C>G (p.Leu247Val)
c.722C>G (p.Pro241Arg)
c.623C>G (p.Pro208Arg)
c.2106+228129G>C (n.2106+228129G>C)
c.727C>G (p.Leu243Val)
c.1031C>G (p.Pro344Arg)
3g.184372836G>TCA355461798EIF2B5,THPOc.1159C>A (p.Leu387Met)
c.739C>A (p.Leu247Met)
c.722C>A (p.Pro241His)
c.623C>A (p.Pro208His)
c.2106+228129G>T (n.2106+228129G>T)
c.727C>A (p.Leu243Met)
c.1031C>A (p.Pro344His)
3g.184372837G>ACA355461800EIF2B5,THPOc.1158C>T (p.Tyr386=)
c.738C>T (p.Tyr246=)
c.721C>T (p.Pro241Ser)
c.622C>T (p.Pro208Ser)
c.2106+228130G>A (n.2106+228130G>A)
c.726C>T (p.Tyr242=)
c.1030C>T (p.Pro344Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.184372837G>CCA355461801EIF2B5,THPOc.1158C>G (p.Tyr386Ter)
c.738C>G (p.Tyr246Ter)
c.721C>G (p.Pro241Ala)
c.622C>G (p.Pro208Ala)
c.2106+228130G>C (n.2106+228130G>C)
c.726C>G (p.Tyr242Ter)
c.1030C>G (p.Pro344Ala)
3g.184372837G=CA1425997839EIF2B5,THPOc.1158C= (p.Tyr386=)
c.738C= (p.Tyr246=)
c.721C= (p.Pro241=)
c.622C= (p.Pro208=)
c.2106+228130G= (n.2106+228130G=)
c.726C= (p.Tyr242=)
c.1030C= (p.Pro344=)
3g.184372837G>TCA355461799EIF2B5,THPOc.1158C>A (p.Tyr386Ter)
c.738C>A (p.Tyr246Ter)
c.721C>A (p.Pro241Thr)
c.622C>A (p.Pro208Thr)
c.2106+228130G>T (n.2106+228130G>T)
c.726C>A (p.Tyr242Ter)
c.1030C>A (p.Pro344Thr)
3g.184372838T>ACA355461802EIF2B5,THPOc.1157A>T (p.Tyr386Phe)
c.737A>T (p.Tyr246Phe)
c.720A>T (p.Ile240=)
c.621A>T (p.Ile207=)
c.2106+228131T>A (n.2106+228131T>A)
c.725A>T (p.Tyr242Phe)
c.1029A>T (p.Ile343=)
3g.184372838T>CCA355461804EIF2B5,THPOc.1157A>G (p.Tyr386Cys)
c.737A>G (p.Tyr246Cys)
c.720A>G (p.Ile240Met)
c.621A>G (p.Ile207Met)
c.2106+228131T>C (n.2106+228131T>C)
c.725A>G (p.Tyr242Cys)
c.1029A>G (p.Ile343Met)
3g.184372838T>GCA355461803EIF2B5,THPOc.1157A>C (p.Tyr386Ser)
c.737A>C (p.Tyr246Ser)
c.720A>C (p.Ile240=)
c.621A>C (p.Ile207=)
c.2106+228131T>G (n.2106+228131T>G)
c.725A>C (p.Tyr242Ser)
c.1029A>C (p.Ile343=)
3g.184372839A>CCA355461805EIF2B5,THPOc.1156T>G (p.Tyr386Asp)
c.736T>G (p.Tyr246Asp)
c.719T>G (p.Ile240Arg)
c.620T>G (p.Ile207Arg)
c.2106+228132A>C (n.2106+228132A>C)
c.724T>G (p.Tyr242Asp)
c.1028T>G (p.Ile343Arg)
3g.184372839A>GCA355461806EIF2B5,THPOc.1156T>C (p.Tyr386His)
c.736T>C (p.Tyr246His)
c.719T>C (p.Ile240Thr)
c.620T>C (p.Ile207Thr)
c.2106+228132A>G (n.2106+228132A>G)
c.724T>C (p.Tyr242His)
c.1028T>C (p.Ile343Thr)
3g.184372839A>TCA355461807EIF2B5,THPOc.1156T>A (p.Tyr386Asn)
c.736T>A (p.Tyr246Asn)
c.719T>A (p.Ile240Lys)
c.620T>A (p.Ile207Lys)
c.2106+228132A>T (n.2106+228132A>T)
c.724T>A (p.Tyr242Asn)
c.1028T>A (p.Ile343Lys)
3g.184372840T>ACA355461808EIF2B5,THPOc.1155A>T (p.Gly385=)
c.735A>T (p.Gly245=)
c.718A>T (p.Ile240Leu)
c.619A>T (p.Ile207Leu)
c.2106+228133T>A (n.2106+228133T>A)
c.723A>T (p.Gly241=)
c.1027A>T (p.Ile343Leu)
3g.184372840T>CCA355461809EIF2B5,THPOc.1155A>G (p.Gly385=)
c.735A>G (p.Gly245=)
c.718A>G (p.Ile240Val)
c.619A>G (p.Ile207Val)
c.2106+228133T>C (n.2106+228133T>C)
c.723A>G (p.Gly241=)
c.1027A>G (p.Ile343Val)
3g.184372840T>GCA355461810EIF2B5,THPOc.1155A>C (p.Gly385=)
c.735A>C (p.Gly245=)
c.718A>C (p.Ile240Leu)
c.619A>C (p.Ile207Leu)
c.2106+228133T>G (n.2106+228133T>G)
c.723A>C (p.Gly241=)
c.1027A>C (p.Ile343Leu)
3g.184372841C>ACA355461811EIF2B5,THPOc.1154G>T (p.Gly385Val)
c.734G>T (p.Gly245Val)
c.717G>T (p.Arg239=)
c.618G>T (p.Arg206=)
c.2106+228134C>A (n.2106+228134C>A)
c.722G>T (p.Gly241Val)
c.1026G>T (p.Arg342=)
3g.184372841C>GCA355461812EIF2B5,THPOc.1154G>C (p.Gly385Ala)
c.734G>C (p.Gly245Ala)
c.717G>C (p.Arg239=)
c.618G>C (p.Arg206=)
c.2106+228134C>G (n.2106+228134C>G)
c.722G>C (p.Gly241Ala)
c.1026G>C (p.Arg342=)
3g.184372841C>TCA355461813EIF2B5,THPOc.1154G>A (p.Gly385Glu)
c.734G>A (p.Gly245Glu)
c.717G>A (p.Arg239=)
c.618G>A (p.Arg206=)
c.2106+228134C>T (n.2106+228134C>T)
c.722G>A (p.Gly241Glu)
c.1026G>A (p.Arg342=)
3g.184372842delCA2704881261EIF2B5,THPOc.1154del (p.Gly385AspfsTer3)
c.734del (p.Gly245AspfsTer3)
c.717del (p.Ile240TyrfsTer?)
c.618del (p.Ile207TyrfsTer?)
c.2106+228135del (n.2106+228135del)
c.722del (p.Gly241AspfsTer3)
c.1026del (p.Ile343TyrfsTer?)
 dbSNP
3g.184372842C>ACA355461814EIF2B5,THPOc.1153G>T (p.Gly385Ter)
c.733G>T (p.Gly245Ter)
c.716G>T (p.Arg239Leu)
c.617G>T (p.Arg206Leu)
c.2106+228135C>A (n.2106+228135C>A)
c.721G>T (p.Gly241Ter)
c.1025G>T (p.Arg342Leu)
3g.184372842C=CA1425997840EIF2B5,THPOc.1153G= (p.Gly385=)
c.733G= (p.Gly245=)
c.716G= (p.Arg239=)
c.617G= (p.Arg206=)
c.2106+228135C= (n.2106+228135C=)
c.721G= (p.Gly241=)
c.1025G= (p.Arg342=)
3g.184372842C>GCA355461815EIF2B5,THPOc.1153G>C (p.Gly385Arg)
c.733G>C (p.Gly245Arg)
c.716G>C (p.Arg239Pro)
c.617G>C (p.Arg206Pro)
c.2106+228135C>G (n.2106+228135C>G)
c.721G>C (p.Gly241Arg)
c.1025G>C (p.Arg342Pro)
3g.184372842C>TCA2734881EIF2B5,THPOc.1153G>A (p.Gly385Arg)
c.733G>A (p.Gly245Arg)
c.716G>A (p.Arg239Gln)
c.617G>A (p.Arg206Gln)
c.2106+228135C>T (n.2106+228135C>T)
c.721G>A (p.Gly241Arg)
c.1025G>A (p.Arg342Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372843G>ACA2734882EIF2B5,THPOc.1152C>T (p.Pro384=)
c.732C>T (p.Pro244=)
c.715C>T (p.Arg239Trp)
c.616C>T (p.Arg206Trp)
c.2106+228136G>A (n.2106+228136G>A)
c.720C>T (p.Pro240=)
c.1024C>T (p.Arg342Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372843G>CCA355461816EIF2B5,THPOc.1152C>G (p.Pro384=)
c.732C>G (p.Pro244=)
c.715C>G (p.Arg239Gly)
c.616C>G (p.Arg206Gly)
c.2106+228136G>C (n.2106+228136G>C)
c.720C>G (p.Pro240=)
c.1024C>G (p.Arg342Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.184372843G=CA1425997841EIF2B5,THPOc.1152C= (p.Pro384=)
c.732C= (p.Pro244=)
c.715C= (p.Arg239=)
c.616C= (p.Arg206=)
c.2106+228136G= (n.2106+228136G=)
c.720C= (p.Pro240=)
c.1024C= (p.Arg342=)
3g.184372843G>TCA437332801EIF2B5,THPOc.1152C>A (p.Pro384=)
c.732C>A (p.Pro244=)
c.715C>A (p.Arg239=)
c.616C>A (p.Arg206=)
c.2106+228136G>T (n.2106+228136G>T)
c.720C>A (p.Pro240=)
c.1024C>A (p.Arg342=)
 COSMIC
3g.184372844G>ACA355461817EIF2B5,THPOc.1151C>T (p.Pro384Leu)
c.731C>T (p.Pro244Leu)
c.714C>T (p.Pro238=)
c.615C>T (p.Pro205=)
c.2106+228137G>A (n.2106+228137G>A)
c.719C>T (p.Pro240Leu)
c.1023C>T (p.Pro341=)
3g.184372844G>CCA355461818EIF2B5,THPOc.1151C>G (p.Pro384Arg)
c.731C>G (p.Pro244Arg)
c.714C>G (p.Pro238=)
c.615C>G (p.Pro205=)
c.2106+228137G>C (n.2106+228137G>C)
c.719C>G (p.Pro240Arg)
c.1023C>G (p.Pro341=)
3g.184372844G>TCA355461819EIF2B5,THPOc.1151C>A (p.Pro384His)
c.731C>A (p.Pro244His)
c.714C>A (p.Pro238=)
c.615C>A (p.Pro205=)
c.2106+228137G>T (n.2106+228137G>T)
c.719C>A (p.Pro240His)
c.1023C>A (p.Pro341=)
3g.184372845G>ACA355461820EIF2B5,THPOc.1150C>T (p.Pro384Ser)
c.730C>T (p.Pro244Ser)
c.713C>T (p.Pro238Leu)
c.614C>T (p.Pro205Leu)
c.2106+228138G>A (n.2106+228138G>A)
c.718C>T (p.Pro240Ser)
c.1022C>T (p.Pro341Leu)
 dbSNP
3g.184372845G>CCA355461821EIF2B5,THPOc.1150C>G (p.Pro384Ala)
c.730C>G (p.Pro244Ala)
c.713C>G (p.Pro238Arg)
c.614C>G (p.Pro205Arg)
c.2106+228138G>C (n.2106+228138G>C)
c.718C>G (p.Pro240Ala)
c.1022C>G (p.Pro341Arg)
3g.184372845G>TCA355461822EIF2B5,THPOc.1150C>A (p.Pro384Thr)
c.730C>A (p.Pro244Thr)
c.713C>A (p.Pro238His)
c.614C>A (p.Pro205His)
c.2106+228138G>T (n.2106+228138G>T)
c.718C>A (p.Pro240Thr)
c.1022C>A (p.Pro341His)
3g.184372846G>ACA355461823EIF2B5,THPOc.1149C>T (p.Ile383=)
c.729C>T (p.Ile243=)
c.712C>T (p.Pro238Ser)
c.613C>T (p.Pro205Ser)
c.2106+228139G>A (n.2106+228139G>A)
c.717C>T (p.Ile239=)
c.1021C>T (p.Pro341Ser)
3g.184372846G>CCA355461824EIF2B5,THPOc.1149C>G (p.Ile383Met)
c.729C>G (p.Ile243Met)
c.712C>G (p.Pro238Ala)
c.613C>G (p.Pro205Ala)
c.2106+228139G>C (n.2106+228139G>C)
c.717C>G (p.Ile239Met)
c.1021C>G (p.Pro341Ala)
3g.184372846G=CA1425997842EIF2B5,THPOc.1149C= (p.Ile383=)
c.729C= (p.Ile243=)
c.712C= (p.Pro238=)
c.613C= (p.Pro205=)
c.2106+228139G= (n.2106+228139G=)
c.717C= (p.Ile239=)
c.1021C= (p.Pro341=)
3g.184372846G>TCA2734883EIF2B5,THPOc.1149C>A (p.Ile383=)
c.729C>A (p.Ile243=)
c.712C>A (p.Pro238Thr)
c.613C>A (p.Pro205Thr)
c.2106+228139G>T (n.2106+228139G>T)
c.717C>A (p.Ile239=)
c.1021C>A (p.Pro341Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372847A>CCA355461825EIF2B5,THPOc.1148T>G (p.Ile383Ser)
c.728T>G (p.Ile243Ser)
c.711T>G (p.Asn237Lys)
c.612T>G (p.Asn204Lys)
c.2106+228140A>C (n.2106+228140A>C)
c.716T>G (p.Ile239Ser)
c.1020T>G (p.Asn340Lys)
 COSMIC
3g.184372847A>GCA355461826EIF2B5,THPOc.1148T>C (p.Ile383Thr)
c.728T>C (p.Ile243Thr)
c.711T>C (p.Asn237=)
c.612T>C (p.Asn204=)
c.2106+228140A>G (n.2106+228140A>G)
c.716T>C (p.Ile239Thr)
c.1020T>C (p.Asn340=)
3g.184372847A>TCA355461827EIF2B5,THPOc.1148T>A (p.Ile383Asn)
c.728T>A (p.Ile243Asn)
c.711T>A (p.Asn237Lys)
c.612T>A (p.Asn204Lys)
c.2106+228140A>T (n.2106+228140A>T)
c.716T>A (p.Ile239Asn)
c.1020T>A (p.Asn340Lys)
3g.184372848T>ACA355461828EIF2B5,THPOc.1147A>T (p.Ile383Phe)
c.727A>T (p.Ile243Phe)
c.710A>T (p.Asn237Ile)
c.611A>T (p.Asn204Ile)
c.2106+228141T>A (n.2106+228141T>A)
c.715A>T (p.Ile239Phe)
c.1019A>T (p.Asn340Ile)
3g.184372848T>CCA355461830EIF2B5,THPOc.1147A>G (p.Ile383Val)
c.727A>G (p.Ile243Val)
c.710A>G (p.Asn237Ser)
c.611A>G (p.Asn204Ser)
c.2106+228141T>C (n.2106+228141T>C)
c.715A>G (p.Ile239Val)
c.1019A>G (p.Asn340Ser)
 gnomAD v4
3g.184372848T>GCA355461829EIF2B5,THPOc.1147A>C (p.Ile383Leu)
c.727A>C (p.Ile243Leu)
c.710A>C (p.Asn237Thr)
c.611A>C (p.Asn204Thr)
c.2106+228141T>G (n.2106+228141T>G)
c.715A>C (p.Ile239Leu)
c.1019A>C (p.Asn340Thr)
3g.184372849T>ACA355461831EIF2B5,THPOc.1146A>T (p.Gln382His)
c.726A>T (p.Gln242His)
c.709A>T (p.Asn237Tyr)
c.610A>T (p.Asn204Tyr)
c.2106+228142T>A (n.2106+228142T>A)
c.714A>T (p.Gln238His)
c.1018A>T (p.Asn340Tyr)
3g.184372849T>CCA355461832EIF2B5,THPOc.1146A>G (p.Gln382=)
c.726A>G (p.Gln242=)
c.709A>G (p.Asn237Asp)
c.610A>G (p.Asn204Asp)
c.2106+228142T>C (n.2106+228142T>C)
c.714A>G (p.Gln238=)
c.1018A>G (p.Asn340Asp)
3g.184372849T>GCA355461833EIF2B5,THPOc.1146A>C (p.Gln382His)
c.726A>C (p.Gln242His)
c.709A>C (p.Asn237His)
c.610A>C (p.Asn204His)
c.2106+228142T>G (n.2106+228142T>G)
c.714A>C (p.Gln238His)
c.1018A>C (p.Asn340His)
3g.184372850T>ACA355461834EIF2B5,THPOc.1145A>T (p.Gln382Leu)
c.725A>T (p.Gln242Leu)
c.708A>T (p.Pro236=)
c.609A>T (p.Pro203=)
c.2106+228143T>A (n.2106+228143T>A)
c.713A>T (p.Gln238Leu)
c.1017A>T (p.Pro339=)
3g.184372850T>CCA355461835EIF2B5,THPOc.1145A>G (p.Gln382Arg)
c.725A>G (p.Gln242Arg)
c.708A>G (p.Pro236=)
c.609A>G (p.Pro203=)
c.2106+228143T>C (n.2106+228143T>C)
c.713A>G (p.Gln238Arg)
c.1017A>G (p.Pro339=)
3g.184372850T>GCA355461836EIF2B5,THPOc.1145A>C (p.Gln382Pro)
c.725A>C (p.Gln242Pro)
c.708A>C (p.Pro236=)
c.609A>C (p.Pro203=)
c.2106+228143T>G (n.2106+228143T>G)
c.713A>C (p.Gln238Pro)
c.1017A>C (p.Pro339=)
3g.184372851G>ACA355461837EIF2B5,THPOc.1144C>T (p.Gln382Ter)
c.724C>T (p.Gln242Ter)
c.707C>T (p.Pro236Leu)
c.608C>T (p.Pro203Leu)
c.2106+228144G>A (n.2106+228144G>A)
c.712C>T (p.Gln238Ter)
c.1016C>T (p.Pro339Leu)
3g.184372851G>CCA355461838EIF2B5,THPOc.1144C>G (p.Gln382Glu)
c.724C>G (p.Gln242Glu)
c.707C>G (p.Pro236Arg)
c.608C>G (p.Pro203Arg)
c.2106+228144G>C (n.2106+228144G>C)
c.712C>G (p.Gln238Glu)
c.1016C>G (p.Pro339Arg)
3g.184372851G>TCA355461839EIF2B5,THPOc.1144C>A (p.Gln382Lys)
c.724C>A (p.Gln242Lys)
c.707C>A (p.Pro236Gln)
c.608C>A (p.Pro203Gln)
c.2106+228144G>T (n.2106+228144G>T)
c.712C>A (p.Gln238Lys)
c.1016C>A (p.Pro339Gln)
3g.184372852G>ACA355461840EIF2B5,THPOc.1143C>T (p.Asp381=)
c.723C>T (p.Asp241=)
c.706C>T (p.Pro236Ser)
c.607C>T (p.Pro203Ser)
c.2106+228145G>A (n.2106+228145G>A)
c.711C>T (p.Asp237=)
c.1015C>T (p.Pro339Ser)
3g.184372852G>CCA2734884EIF2B5,THPOc.1143C>G (p.Asp381Glu)
c.723C>G (p.Asp241Glu)
c.706C>G (p.Pro236Ala)
c.607C>G (p.Pro203Ala)
c.2106+228145G>C (n.2106+228145G>C)
c.711C>G (p.Asp237Glu)
c.1015C>G (p.Pro339Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372852G=CA1425997843EIF2B5,THPOc.1143C= (p.Asp381=)
c.723C= (p.Asp241=)
c.706C= (p.Pro236=)
c.607C= (p.Pro203=)
c.2106+228145G= (n.2106+228145G=)
c.711C= (p.Asp237=)
c.1015C= (p.Pro339=)
3g.184372852G>TCA355461841EIF2B5,THPOc.1143C>A (p.Asp381Glu)
c.723C>A (p.Asp241Glu)
c.706C>A (p.Pro236Thr)
c.607C>A (p.Pro203Thr)
c.2106+228145G>T (n.2106+228145G>T)
c.711C>A (p.Asp237Glu)
c.1015C>A (p.Pro339Thr)
3g.184372853T>ACA355461844EIF2B5,THPOc.1142A>T (p.Asp381Val)
c.722A>T (p.Asp241Val)
c.705A>T (p.Gly235=)
c.606A>T (p.Gly202=)
c.2106+228146T>A (n.2106+228146T>A)
c.710A>T (p.Asp237Val)
c.1014A>T (p.Gly338=)
 gnomAD v4
3g.184372853T>CCA355461842EIF2B5,THPOc.1142A>G (p.Asp381Gly)
c.722A>G (p.Asp241Gly)
c.705A>G (p.Gly235=)
c.606A>G (p.Gly202=)
c.2106+228146T>C (n.2106+228146T>C)
c.710A>G (p.Asp237Gly)
c.1014A>G (p.Gly338=)
3g.184372853T>GCA355461843EIF2B5,THPOc.1142A>C (p.Asp381Ala)
c.722A>C (p.Asp241Ala)
c.705A>C (p.Gly235=)
c.606A>C (p.Gly202=)
c.2106+228146T>G (n.2106+228146T>G)
c.710A>C (p.Asp237Ala)
c.1014A>C (p.Gly338=)
3g.184372854C>ACA355461845EIF2B5,THPOc.1141G>T (p.Asp381Tyr)
c.721G>T (p.Asp241Tyr)
c.704G>T (p.Gly235Val)
c.605G>T (p.Gly202Val)
c.2106+228147C>A (n.2106+228147C>A)
c.709G>T (p.Asp237Tyr)
c.1013G>T (p.Gly338Val)
3g.184372854C=CA1425997844EIF2B5,THPOc.1141G= (p.Asp381=)
c.721G= (p.Asp241=)
c.704G= (p.Gly235=)
c.605G= (p.Gly202=)
c.2106+228147C= (n.2106+228147C=)
c.709G= (p.Asp237=)
c.1013G= (p.Gly338=)
3g.184372854C>GCA355461846EIF2B5,THPOc.1141G>C (p.Asp381His)
c.721G>C (p.Asp241His)
c.704G>C (p.Gly235Ala)
c.605G>C (p.Gly202Ala)
c.2106+228147C>G (n.2106+228147C>G)
c.709G>C (p.Asp237His)
c.1013G>C (p.Gly338Ala)
3g.184372854C>TCA355461847EIF2B5,THPOc.1141G>A (p.Asp381Asn)
c.721G>A (p.Asp241Asn)
c.704G>A (p.Gly235Glu)
c.605G>A (p.Gly202Glu)
c.2106+228147C>T (n.2106+228147C>T)
c.709G>A (p.Asp237Asn)
c.1013G>A (p.Gly338Glu)
 dbSNP gnomAD v2 gnomAD v4
3g.184372855C>ACA355461848EIF2B5,THPOc.1140G>T (p.Leu380=)
c.720G>T (p.Leu240=)
c.703G>T (p.Gly235Ter)
c.604G>T (p.Gly202Ter)
c.2106+228148C>A (n.2106+228148C>A)
c.708G>T (p.Leu236=)
c.1012G>T (p.Gly338Ter)
3g.184372855C>GCA355461849EIF2B5,THPOc.1140G>C (p.Leu380=)
c.720G>C (p.Leu240=)
c.703G>C (p.Gly235Arg)
c.604G>C (p.Gly202Arg)
c.2106+228148C>G (n.2106+228148C>G)
c.708G>C (p.Leu236=)
c.1012G>C (p.Gly338Arg)
3g.184372855C>TCA355461850EIF2B5,THPOc.1140G>A (p.Leu380=)
c.720G>A (p.Leu240=)
c.703G>A (p.Gly235Arg)
c.604G>A (p.Gly202Arg)
c.2106+228148C>T (n.2106+228148C>T)
c.708G>A (p.Leu236=)
c.1012G>A (p.Gly338Arg)
3g.184372856A>CCA355461851EIF2B5,THPOc.1139T>G (p.Leu380Arg)
c.719T>G (p.Leu240Arg)
c.702T>G (p.Pro234=)
c.603T>G (p.Pro201=)
c.2106+228149A>C (n.2106+228149A>C)
c.707T>G (p.Leu236Arg)
c.1011T>G (p.Pro337=)
 gnomAD v4
3g.184372856A>GCA355461852EIF2B5,THPOc.1139T>C (p.Leu380Pro)
c.719T>C (p.Leu240Pro)
c.702T>C (p.Pro234=)
c.603T>C (p.Pro201=)
c.2106+228149A>G (n.2106+228149A>G)
c.707T>C (p.Leu236Pro)
c.1011T>C (p.Pro337=)
3g.184372856A>TCA355461853EIF2B5,THPOc.1139T>A (p.Leu380Gln)
c.719T>A (p.Leu240Gln)
c.702T>A (p.Pro234=)
c.603T>A (p.Pro201=)
c.2106+228149A>T (n.2106+228149A>T)
c.707T>A (p.Leu236Gln)
c.1011T>A (p.Pro337=)
3g.184372857G>ACA355461854EIF2B5,THPOc.1138C>T (p.Leu380=)
c.718C>T (p.Leu240=)
c.701C>T (p.Pro234Leu)
c.602C>T (p.Pro201Leu)
c.2106+228150G>A (n.2106+228150G>A)
c.706C>T (p.Leu236=)
c.1010C>T (p.Pro337Leu)
3g.184372857G>CCA355461855EIF2B5,THPOc.1138C>G (p.Leu380Val)
c.718C>G (p.Leu240Val)
c.701C>G (p.Pro234Arg)
c.602C>G (p.Pro201Arg)
c.2106+228150G>C (n.2106+228150G>C)
c.706C>G (p.Leu236Val)
c.1010C>G (p.Pro337Arg)
3g.184372857G>TCA355461856EIF2B5,THPOc.1138C>A (p.Leu380Met)
c.718C>A (p.Leu240Met)
c.701C>A (p.Pro234His)
c.602C>A (p.Pro201His)
c.2106+228150G>T (n.2106+228150G>T)
c.706C>A (p.Leu236Met)
c.1010C>A (p.Pro337His)
 gnomAD v4
3g.184372858G>ACA2734885EIF2B5,THPOc.1137C>T (p.Ser379=)
c.717C>T (p.Ser239=)
c.700C>T (p.Pro234Ser)
c.601C>T (p.Pro201Ser)
c.2106+228151G>A (n.2106+228151G>A)
c.705C>T (p.Ser235=)
c.1009C>T (p.Pro337Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184372858G>CCA355461858EIF2B5,THPOc.1137C>G (p.Ser379=)
c.717C>G (p.Ser239=)
c.700C>G (p.Pro234Ala)
c.601C>G (p.Pro201Ala)
c.2106+228151G>C (n.2106+228151G>C)
c.705C>G (p.Ser235=)
c.1009C>G (p.Pro337Ala)
3g.184372858G=CA1425997845EIF2B5,THPOc.1137C= (p.Ser379=)
c.717C= (p.Ser239=)
c.700C= (p.Pro234=)
c.601C= (p.Pro201=)
c.2106+228151G= (n.2106+228151G=)
c.705C= (p.Ser235=)
c.1009C= (p.Pro337=)
3g.184372858G>TCA355461857EIF2B5,THPOc.1137C>A (p.Ser379=)
c.717C>A (p.Ser239=)
c.700C>A (p.Pro234Thr)
c.601C>A (p.Pro201Thr)
c.2106+228151G>T (n.2106+228151G>T)
c.705C>A (p.Ser235=)
c.1009C>A (p.Pro337Thr)
 dbSNP gnomAD v4
3g.184372859G>ACA355461859EIF2B5,THPOc.1136C>T (p.Ser379Phe)
c.716C>T (p.Ser239Phe)
c.699C>T (p.Val233=)
c.600C>T (p.Val200=)
c.2106+228152G>A (n.2106+228152G>A)
c.704C>T (p.Ser235Phe)
c.1008C>T (p.Val336=)
 gnomAD v4
3g.184372859G>CCA355461861EIF2B5,THPOc.1136C>G (p.Ser379Cys)
c.716C>G (p.Ser239Cys)
c.699C>G (p.Val233=)
c.600C>G (p.Val200=)
c.2106+228152G>C (n.2106+228152G>C)
c.704C>G (p.Ser235Cys)
c.1008C>G (p.Val336=)
3g.184372859G>TCA355461860EIF2B5,THPOc.1136C>A (p.Ser379Tyr)
c.716C>A (p.Ser239Tyr)
c.699C>A (p.Val233=)
c.600C>A (p.Val200=)
c.2106+228152G>T (n.2106+228152G>T)
c.704C>A (p.Ser235Tyr)
c.1008C>A (p.Val336=)
3g.184372860A>CCA355461862EIF2B5,THPOc.1135T>G (p.Ser379Ala)
c.715T>G (p.Ser239Ala)
c.698T>G (p.Val233Gly)
c.599T>G (p.Val200Gly)
c.2106+228153A>C (n.2106+228153A>C)
c.703T>G (p.Ser235Ala)
c.1007T>G (p.Val336Gly)
3g.184372860A>GCA355461863EIF2B5,THPOc.1135T>C (p.Ser379Pro)
c.715T>C (p.Ser239Pro)
c.698T>C (p.Val233Ala)
c.599T>C (p.Val200Ala)
c.2106+228153A>G (n.2106+228153A>G)
c.703T>C (p.Ser235Pro)
c.1007T>C (p.Val336Ala)
3g.184372860A>TCA355461864EIF2B5,THPOc.1135T>A (p.Ser379Thr)
c.715T>A (p.Ser239Thr)
c.698T>A (p.Val233Asp)
c.599T>A (p.Val200Asp)
c.2106+228153A>T (n.2106+228153A>T)
c.703T>A (p.Ser235Thr)
c.1007T>A (p.Val336Asp)
3g.184372861C>ACA355461865EIF2B5,THPOc.1134G>T (p.Arg378Ser)
c.714G>T (p.Arg238Ser)
c.697G>T (p.Val233Phe)
c.598G>T (p.Val200Phe)
c.2106+228154C>A (n.2106+228154C>A)
c.702G>T (p.Arg234Ser)
c.1006G>T (p.Val336Phe)
3g.184372861C>GCA355461866EIF2B5,THPOc.1134G>C (p.Arg378Ser)
c.714G>C (p.Arg238Ser)
c.697G>C (p.Val233Leu)
c.598G>C (p.Val200Leu)
c.2106+228154C>G (n.2106+228154C>G)
c.702G>C (p.Arg234Ser)
c.1006G>C (p.Val336Leu)
3g.184372861C>TCA355461867EIF2B5,THPOc.1134G>A (p.Arg378=)
c.714G>A (p.Arg238=)
c.697G>A (p.Val233Ile)
c.598G>A (p.Val200Ile)
c.2106+228154C>T (n.2106+228154C>T)
c.702G>A (p.Arg234=)
c.1006G>A (p.Val336Ile)
 gnomAD v4
3g.184372862delCA2668833182EIF2B5,THPOc.1134del (p.Arg378SerfsTer10)
c.714del (p.Arg238SerfsTer10)
c.697del (p.Val233SerfsTer?)
c.598del (p.Val200SerfsTer?)
c.2106+228155del (n.2106+228155del)
c.702del (p.Arg234SerfsTer10)
c.1006del (p.Val336SerfsTer?)
 gnomAD v4
3g.184372862C>ACA355461870EIF2B5,THPOc.1133G>T (p.Arg378Met)
c.713G>T (p.Arg238Met)
c.696G>T (p.Gln232His)
c.597G>T (p.Gln199His)
c.2106+228155C>A (n.2106+228155C>A)
c.701G>T (p.Arg234Met)
c.1005G>T (p.Gln335His)
3g.184372862C>GCA355461869EIF2B5,THPOc.1133G>C (p.Arg378Thr)
c.713G>C (p.Arg238Thr)
c.696G>C (p.Gln232His)
c.597G>C (p.Gln199His)
c.2106+228155C>G (n.2106+228155C>G)
c.701G>C (p.Arg234Thr)
c.1005G>C (p.Gln335His)
 gnomAD v4
3g.184372862C>TCA355461868EIF2B5,THPOc.1133G>A (p.Arg378Lys)
c.713G>A (p.Arg238Lys)
c.696G>A (p.Gln232=)
c.597G>A (p.Gln199=)
c.2106+228155C>T (n.2106+228155C>T)
c.701G>A (p.Arg234Lys)
c.1005G>A (p.Gln335=)
3g.184372863T>ACA355461871EIF2B5,THPOc.1132A>T (p.Arg378Trp)
c.712A>T (p.Arg238Trp)
c.695A>T (p.Gln232Leu)
c.596A>T (p.Gln199Leu)
c.2106+228156T>A (n.2106+228156T>A)
c.700A>T (p.Arg234Trp)
c.1004A>T (p.Gln335Leu)
3g.184372863T>CCA355461872EIF2B5,THPOc.1132A>G (p.Arg378Gly)
c.712A>G (p.Arg238Gly)
c.695A>G (p.Gln232Arg)
c.596A>G (p.Gln199Arg)
c.2106+228156T>C (n.2106+228156T>C)
c.700A>G (p.Arg234Gly)
c.1004A>G (p.Gln335Arg)
3g.184372863T>GCA355461873EIF2B5,THPOc.1132A>C (p.Arg378=)
c.712A>C (p.Arg238=)
c.695A>C (p.Gln232Pro)
c.596A>C (p.Gln199Pro)
c.2106+228156T>G (n.2106+228156T>G)
c.700A>C (p.Arg234=)
c.1004A>C (p.Gln335Pro)
3g.184372864G>ACA355461874EIF2B5,THPOc.1131C>T (p.Ser377=)
c.711C>T (p.Ser237=)
c.694C>T (p.Gln232Ter)
c.595C>T (p.Gln199Ter)
c.2106+228157G>A (n.2106+228157G>A)
c.699C>T (p.Ser233=)
c.1003C>T (p.Gln335Ter)
3g.184372864G>CCA355461875EIF2B5,THPOc.1131C>G (p.Ser377=)
c.711C>G (p.Ser237=)
c.694C>G (p.Gln232Glu)
c.595C>G (p.Gln199Glu)
c.2106+228157G>C (n.2106+228157G>C)
c.699C>G (p.Ser233=)
c.1003C>G (p.Gln335Glu)
3g.184372864G>TCA355461876EIF2B5,THPOc.1131C>A (p.Ser377=)
c.711C>A (p.Ser237=)
c.694C>A (p.Gln232Lys)
c.595C>A (p.Gln199Lys)
c.2106+228157G>T (n.2106+228157G>T)
c.699C>A (p.Ser233=)
c.1003C>A (p.Gln335Lys)
3g.184372865G>ACA355461877EIF2B5,THPOc.1130C>T (p.Ser377Phe)
c.710C>T (p.Ser237Phe)
c.693C>T (p.Leu231=)
c.594C>T (p.Leu198=)
c.2106+228158G>A (n.2106+228158G>A)
c.698C>T (p.Ser233Phe)
c.1002C>T (p.Leu334=)
3g.184372865G>CCA355461879EIF2B5,THPOc.1130C>G (p.Ser377Cys)
c.710C>G (p.Ser237Cys)
c.693C>G (p.Leu231=)
c.594C>G (p.Leu198=)
c.2106+228158G>C (n.2106+228158G>C)
c.698C>G (p.Ser233Cys)
c.1002C>G (p.Leu334=)
3g.184372865G>TCA355461878EIF2B5,THPOc.1130C>A (p.Ser377Tyr)
c.710C>A (p.Ser237Tyr)
c.693C>A (p.Leu231=)
c.594C>A (p.Leu198=)
c.2106+228158G>T (n.2106+228158G>T)
c.698C>A (p.Ser233Tyr)
c.1002C>A (p.Leu334=)
3g.184372866A>CCA355461880EIF2B5,THPOc.1129T>G (p.Ser377Ala)
c.709T>G (p.Ser237Ala)
c.692T>G (p.Leu231Arg)
c.593T>G (p.Leu198Arg)
c.2106+228159A>C (n.2106+228159A>C)
c.697T>G (p.Ser233Ala)
c.1001T>G (p.Leu334Arg)
3g.184372866A>GCA355461881EIF2B5,THPOc.1129T>C (p.Ser377Pro)
c.709T>C (p.Ser237Pro)
c.692T>C (p.Leu231Pro)
c.593T>C (p.Leu198Pro)
c.2106+228159A>G (n.2106+228159A>G)
c.697T>C (p.Ser233Pro)
c.1001T>C (p.Leu334Pro)
3g.184372866A>TCA355461882EIF2B5,THPOc.1129T>A (p.Ser377Thr)
c.709T>A (p.Ser237Thr)
c.692T>A (p.Leu231His)
c.593T>A (p.Leu198His)
c.2106+228159A>T (n.2106+228159A>T)
c.697T>A (p.Ser233Thr)
c.1001T>A (p.Leu334His)
3g.184372867G>ACA355461883EIF2B5,THPOc.1128C>T (p.Thr376=)
c.708C>T (p.Thr236=)
c.691C>T (p.Leu231Phe)
c.592C>T (p.Leu198Phe)
c.2106+228160G>A (n.2106+228160G>A)
c.696C>T (p.Thr232=)
c.1000C>T (p.Leu334Phe)
 dbSNP
3g.184372867G>CCA355461884EIF2B5,THPOc.1128C>G (p.Thr376=)
c.708C>G (p.Thr236=)
c.691C>G (p.Leu231Val)
c.592C>G (p.Leu198Val)
c.2106+228160G>C (n.2106+228160G>C)
c.696C>G (p.Thr232=)
c.1000C>G (p.Leu334Val)
 dbSNP gnomAD v2 gnomAD v4
3g.184372867G=CA1425997846EIF2B5,THPOc.1128C= (p.Thr376=)
c.708C= (p.Thr236=)
c.691C= (p.Leu231=)
c.592C= (p.Leu198=)
c.2106+228160G= (n.2106+228160G=)
c.696C= (p.Thr232=)
c.1000C= (p.Leu334=)
3g.184372867G>TCA355461885EIF2B5,THPOc.1128C>A (p.Thr376=)
c.708C>A (p.Thr236=)
c.691C>A (p.Leu231Ile)
c.592C>A (p.Leu198Ile)
c.2106+228160G>T (n.2106+228160G>T)
c.696C>A (p.Thr232=)
c.1000C>A (p.Leu334Ile)
3g.184372868G>ACA355461886EIF2B5,THPOc.1127C>T (p.Thr376Ile)
c.707C>T (p.Thr236Ile)
c.690C>T (p.Asn230=)
c.591C>T (p.Asn197=)
c.2106+228161G>A (n.2106+228161G>A)
c.695C>T (p.Thr232Ile)
c.999C>T (p.Asn333=)
3g.184372868G>CCA355461887EIF2B5,THPOc.1127C>G (p.Thr376Ser)
c.707C>G (p.Thr236Ser)
c.690C>G (p.Asn230Lys)
c.591C>G (p.Asn197Lys)
c.2106+228161G>C (n.2106+228161G>C)
c.695C>G (p.Thr232Ser)
c.999C>G (p.Asn333Lys)
3g.184372868G>TCA355461888EIF2B5,THPOc.1127C>A (p.Thr376Asn)
c.707C>A (p.Thr236Asn)
c.690C>A (p.Asn230Lys)
c.591C>A (p.Asn197Lys)
c.2106+228161G>T (n.2106+228161G>T)
c.695C>A (p.Thr232Asn)
c.999C>A (p.Asn333Lys)
 gnomAD v4
3g.184372868_184372869delinsGTCA1425997847EIF2B5,THPOc.1126_1127delinsAC (p.Thr376=)
c.706_707delinsAC (p.Thr236=)
c.689_690delinsAC (p.Asn230=)
c.590_591delinsAC (p.Asn197=)
c.2106+228161_2106+228162delinsGT (n.2106+228161_2106+228162delinsGT)
c.694_695delinsAC (p.Thr232=)
c.998_999delinsAC (p.Asn333=)
3g.184372869T>ACA355461889EIF2B5,THPOc.1126A>T (p.Thr376Ser)
c.706A>T (p.Thr236Ser)
c.689A>T (p.Asn230Ile)
c.590A>T (p.Asn197Ile)
c.2106+228162T>A (n.2106+228162T>A)
c.694A>T (p.Thr232Ser)
c.998A>T (p.Asn333Ile)
 dbSNP gnomAD v3 gnomAD v4
3g.184372869T>CCA355461890EIF2B5,THPOc.1126A>G (p.Thr376Ala)
c.706A>G (p.Thr236Ala)
c.689A>G (p.Asn230Ser)
c.590A>G (p.Asn197Ser)
c.2106+228162T>C (n.2106+228162T>C)
c.694A>G (p.Thr232Ala)
c.998A>G (p.Asn333Ser)
3g.184372869T>GCA355461891EIF2B5,THPOc.1126A>C (p.Thr376Pro)
c.706A>C (p.Thr236Pro)
c.689A>C (p.Asn230Thr)
c.590A>C (p.Asn197Thr)
c.2106+228162T>G (n.2106+228162T>G)
c.694A>C (p.Thr232Pro)
c.998A>C (p.Asn333Thr)
 dbSNP gnomAD v3 gnomAD v4
3g.184372869T=CA1425997848EIF2B5,THPOc.1126A= (p.Thr376=)
c.706A= (p.Thr236=)
c.689A= (p.Asn230=)
c.590A= (p.Asn197=)
c.2106+228162T= (n.2106+228162T=)
c.694A= (p.Thr232=)
c.998A= (p.Asn333=)
3g.184372871delCA548795851EIF2B5,THPOc.1126del (p.Thr376ProfsTer12)
c.706del (p.Thr236ProfsTer12)
c.689del (p.Asn230ThrfsTer?)
c.590del (p.Asn197ThrfsTer?)
c.2106+228164del (n.2106+228164del)
c.694del (p.Thr232ProfsTer12)
c.998del (p.Asn333ThrfsTer?)
 dbSNP gnomAD v2 gnomAD v4
3g.184372870T>ACA355461894EIF2B5,THPOc.1125A>T (p.Gln375His)
c.705A>T (p.Gln235His)
c.688A>T (p.Asn230Tyr)
c.589A>T (p.Asn197Tyr)
c.2106+228163T>A (n.2106+228163T>A)
c.693A>T (p.Gln231His)
c.997A>T (p.Asn333Tyr)
3g.184372870T>CCA355461892EIF2B5,THPOc.1125A>G (p.Gln375=)
c.705A>G (p.Gln235=)
c.688A>G (p.Asn230Asp)
c.589A>G (p.Asn197Asp)
c.2106+228163T>C (n.2106+228163T>C)
c.693A>G (p.Gln231=)
c.997A>G (p.Asn333Asp)
3g.184372870T>GCA355461893EIF2B5,THPOc.1125A>C (p.Gln375His)
c.705A>C (p.Gln235His)
c.688A>C (p.Asn230His)
c.589A>C (p.Asn197His)
c.2106+228163T>G (n.2106+228163T>G)
c.693A>C (p.Gln231His)
c.997A>C (p.Asn333His)
3g.184372871T>ACA355461895EIF2B5,THPOc.1124A>T (p.Gln375Leu)
c.704A>T (p.Gln235Leu)
c.687A>T (p.Pro229=)
c.588A>T (p.Pro196=)
c.2106+228164T>A (n.2106+228164T>A)
c.692A>T (p.Gln231Leu)
c.996A>T (p.Pro332=)
3g.184372871T>CCA2734886EIF2B5,THPOc.1124A>G (p.Gln375Arg)
c.704A>G (p.Gln235Arg)
c.687A>G (p.Pro229=)
c.588A>G (p.Pro196=)
c.2106+228164T>C (n.2106+228164T>C)
c.692A>G (p.Gln231Arg)
c.996A>G (p.Pro332=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372871T>GCA355461896EIF2B5,THPOc.1124A>C (p.Gln375Pro)
c.704A>C (p.Gln235Pro)
c.687A>C (p.Pro229=)
c.588A>C (p.Pro196=)
c.2106+228164T>G (n.2106+228164T>G)
c.692A>C (p.Gln231Pro)
c.996A>C (p.Pro332=)
3g.184372871T=CA1425997849EIF2B5,THPOc.1124A= (p.Gln375=)
c.704A= (p.Gln235=)
c.687A= (p.Pro229=)
c.588A= (p.Pro196=)
c.2106+228164T= (n.2106+228164T=)
c.692A= (p.Gln231=)
c.996A= (p.Pro332=)
3g.184372872G>ACA2734887EIF2B5,THPOc.1123C>T (p.Gln375Ter)
c.703C>T (p.Gln235Ter)
c.686C>T (p.Pro229Leu)
c.587C>T (p.Pro196Leu)
c.2106+228165G>A (n.2106+228165G>A)
c.691C>T (p.Gln231Ter)
c.995C>T (p.Pro332Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184372872G>CCA355461897EIF2B5,THPOc.1123C>G (p.Gln375Glu)
c.703C>G (p.Gln235Glu)
c.686C>G (p.Pro229Arg)
c.587C>G (p.Pro196Arg)
c.2106+228165G>C (n.2106+228165G>C)
c.691C>G (p.Gln231Glu)
c.995C>G (p.Pro332Arg)
 gnomAD v4
3g.184372872G=CA1425997850EIF2B5,THPOc.1123C= (p.Gln375=)
c.703C= (p.Gln235=)
c.686C= (p.Pro229=)
c.587C= (p.Pro196=)
c.2106+228165G= (n.2106+228165G=)
c.691C= (p.Gln231=)
c.995C= (p.Pro332=)
3g.184372872G>TCA355461898EIF2B5,THPOc.1123C>A (p.Gln375Lys)
c.703C>A (p.Gln235Lys)
c.686C>A (p.Pro229Gln)
c.587C>A (p.Pro196Gln)
c.2106+228165G>T (n.2106+228165G>T)
c.691C>A (p.Gln231Lys)
c.995C>A (p.Pro332Gln)
3g.184372873G>ACA355461899EIF2B5,THPOc.1122C>T (p.Asn374=)
c.702C>T (p.Asn234=)
c.685C>T (p.Pro229Ser)
c.586C>T (p.Pro196Ser)
c.2106+228166G>A (n.2106+228166G>A)
c.690C>T (p.Asn230=)
c.994C>T (p.Pro332Ser)
 dbSNP gnomAD v4
3g.184372873G>CCA355461900EIF2B5,THPOc.1122C>G (p.Asn374Lys)
c.702C>G (p.Asn234Lys)
c.685C>G (p.Pro229Ala)
c.586C>G (p.Pro196Ala)
c.2106+228166G>C (n.2106+228166G>C)
c.690C>G (p.Asn230Lys)
c.994C>G (p.Pro332Ala)
3g.184372873G=CA1425997851EIF2B5,THPOc.1122C= (p.Asn374=)
c.702C= (p.Asn234=)
c.685C= (p.Pro229=)
c.586C= (p.Pro196=)
c.2106+228166G= (n.2106+228166G=)
c.690C= (p.Asn230=)
c.994C= (p.Pro332=)
3g.184372873G>TCA355461901EIF2B5,THPOc.1122C>A (p.Asn374Lys)
c.702C>A (p.Asn234Lys)
c.685C>A (p.Pro229Thr)
c.586C>A (p.Pro196Thr)
c.2106+228166G>T (n.2106+228166G>T)
c.690C>A (p.Asn230Lys)
c.994C>A (p.Pro332Thr)
3g.184372874T>ACA355461902EIF2B5,THPOc.1121A>T (p.Asn374Ile)
c.701A>T (p.Asn234Ile)
c.684A>T (p.Glu228Asp)
c.585A>T (p.Glu195Asp)
c.2106+228167T>A (n.2106+228167T>A)
c.689A>T (p.Asn230Ile)
c.993A>T (p.Glu331Asp)
3g.184372874T>CCA355461903EIF2B5,THPOc.1121A>G (p.Asn374Ser)
c.701A>G (p.Asn234Ser)
c.684A>G (p.Glu228=)
c.585A>G (p.Glu195=)
c.2106+228167T>C (n.2106+228167T>C)
c.689A>G (p.Asn230Ser)
c.993A>G (p.Glu331=)
3g.184372874T>GCA355461904EIF2B5,THPOc.1121A>C (p.Asn374Thr)
c.701A>C (p.Asn234Thr)
c.684A>C (p.Glu228Asp)
c.585A>C (p.Glu195Asp)
c.2106+228167T>G (n.2106+228167T>G)
c.689A>C (p.Asn230Thr)
c.993A>C (p.Glu331Asp)
3g.184372875T>ACA355461907EIF2B5,THPOc.1120A>T (p.Asn374Tyr)
c.700A>T (p.Asn234Tyr)
c.683A>T (p.Glu228Val)
c.584A>T (p.Glu195Val)
c.2106+228168T>A (n.2106+228168T>A)
c.688A>T (p.Asn230Tyr)
c.992A>T (p.Glu331Val)
3g.184372875T>CCA355461906EIF2B5,THPOc.1120A>G (p.Asn374Asp)
c.700A>G (p.Asn234Asp)
c.683A>G (p.Glu228Gly)
c.584A>G (p.Glu195Gly)
c.2106+228168T>C (n.2106+228168T>C)
c.688A>G (p.Asn230Asp)
c.992A>G (p.Glu331Gly)
3g.184372875T>GCA355461905EIF2B5,THPOc.1120A>C (p.Asn374His)
c.700A>C (p.Asn234His)
c.683A>C (p.Glu228Ala)
c.584A>C (p.Glu195Ala)
c.2106+228168T>G (n.2106+228168T>G)
c.688A>C (p.Asn230His)
c.992A>C (p.Glu331Ala)
3g.184372875_184372878delinsTCAGCA1425997852EIF2B5,THPOc.1117_1120delinsCTGA (p.Leu373=)
c.697_700delinsCTGA (p.Leu233=)
c.680_683delinsCTGA (p.Ala227=)
c.581_584delinsCTGA (p.Ala194=)
c.2106+228168_2106+228171delinsTCAG (n.2106+228168_2106+228171delinsTCAG)
c.685_688delinsCTGA (p.Leu229=)
c.989_992delinsCTGA (p.Ala330=)
3g.184372876C>ACA2734889EIF2B5,THPOc.1119G>T (p.Leu373=)
c.699G>T (p.Leu233=)
c.682G>T (p.Glu228Ter)
c.583G>T (p.Glu195Ter)
c.2106+228169C>A (n.2106+228169C>A)
c.687G>T (p.Leu229=)
c.991G>T (p.Glu331Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372876C=CA1425997853EIF2B5,THPOc.1119G= (p.Leu373=)
c.699G= (p.Leu233=)
c.682G= (p.Glu228=)
c.583G= (p.Glu195=)
c.2106+228169C= (n.2106+228169C=)
c.687G= (p.Leu229=)
c.991G= (p.Glu331=)
3g.184372876C>GCA355461908EIF2B5,THPOc.1119G>C (p.Leu373=)
c.699G>C (p.Leu233=)
c.682G>C (p.Glu228Gln)
c.583G>C (p.Glu195Gln)
c.2106+228169C>G (n.2106+228169C>G)
c.687G>C (p.Leu229=)
c.991G>C (p.Glu331Gln)
3g.184372876C>TCA355461909EIF2B5,THPOc.1119G>A (p.Leu373=)
c.699G>A (p.Leu233=)
c.682G>A (p.Glu228Lys)
c.583G>A (p.Glu195Lys)
c.2106+228169C>T (n.2106+228169C>T)
c.687G>A (p.Leu229=)
c.991G>A (p.Glu331Lys)
 dbSNP gnomAD v3 gnomAD v4
3g.184372879_184372881delCA2734888EIF2B5,THPOc.1117_1119del (p.Leu373del)
c.697_699del (p.Leu233del)
c.680_682del (p.Ala227del)
c.581_583del (p.Ala194del)
c.2106+228172_2106+228174del (n.2106+228172_2106+228174del)
c.685_687del (p.Leu229del)
c.989_991del (p.Ala330del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372877A>CCA355461910EIF2B5,THPOc.1118T>G (p.Leu373Arg)
c.698T>G (p.Leu233Arg)
c.681T>G (p.Ala227=)
c.582T>G (p.Ala194=)
c.2106+228170A>C (n.2106+228170A>C)
c.686T>G (p.Leu229Arg)
c.990T>G (p.Ala330=)
3g.184372877A>GCA355461911EIF2B5,THPOc.1118T>C (p.Leu373Pro)
c.698T>C (p.Leu233Pro)
c.681T>C (p.Ala227=)
c.582T>C (p.Ala194=)
c.2106+228170A>G (n.2106+228170A>G)
c.686T>C (p.Leu229Pro)
c.990T>C (p.Ala330=)
 gnomAD v4
3g.184372877A>TCA355461912EIF2B5,THPOc.1118T>A (p.Leu373Gln)
c.698T>A (p.Leu233Gln)
c.681T>A (p.Ala227=)
c.582T>A (p.Ala194=)
c.2106+228170A>T (n.2106+228170A>T)
c.686T>A (p.Leu229Gln)
c.990T>A (p.Ala330=)
3g.184372878G>ACA355461913EIF2B5,THPOc.1117C>T (p.Leu373=)
c.697C>T (p.Leu233=)
c.680C>T (p.Ala227Val)
c.581C>T (p.Ala194Val)
c.2106+228171G>A (n.2106+228171G>A)
c.685C>T (p.Leu229=)
c.989C>T (p.Ala330Val)
3g.184372878G>CCA355461914EIF2B5,THPOc.1117C>G (p.Leu373Val)
c.697C>G (p.Leu233Val)
c.680C>G (p.Ala227Gly)
c.581C>G (p.Ala194Gly)
c.2106+228171G>C (n.2106+228171G>C)
c.685C>G (p.Leu229Val)
c.989C>G (p.Ala330Gly)
3g.184372878G>TCA355461915EIF2B5,THPOc.1117C>A (p.Leu373Met)
c.697C>A (p.Leu233Met)
c.680C>A (p.Ala227Asp)
c.581C>A (p.Ala194Asp)
c.2106+228171G>T (n.2106+228171G>T)
c.685C>A (p.Leu229Met)
c.989C>A (p.Ala330Asp)
3g.184372879C>ACA2734890EIF2B5,THPOc.1116G>T (p.Leu372=)
c.696G>T (p.Leu232=)
c.679G>T (p.Ala227Ser)
c.580G>T (p.Ala194Ser)
c.2106+228172C>A (n.2106+228172C>A)
c.684G>T (p.Leu228=)
c.988G>T (p.Ala330Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184372879C=CA1425997854EIF2B5,THPOc.1116G= (p.Leu372=)
c.696G= (p.Leu232=)
c.679G= (p.Ala227=)
c.580G= (p.Ala194=)
c.2106+228172C= (n.2106+228172C=)
c.684G= (p.Leu228=)
c.988G= (p.Ala330=)
3g.184372879C>GCA355461916EIF2B5,THPOc.1116G>C (p.Leu372=)
c.696G>C (p.Leu232=)
c.679G>C (p.Ala227Pro)
c.580G>C (p.Ala194Pro)
c.2106+228172C>G (n.2106+228172C>G)
c.684G>C (p.Leu228=)
c.988G>C (p.Ala330Pro)
 gnomAD v4
3g.184372879C>TCA355461917EIF2B5,THPOc.1116G>A (p.Leu372=)
c.696G>A (p.Leu232=)
c.679G>A (p.Ala227Thr)
c.580G>A (p.Ala194Thr)
c.2106+228172C>T (n.2106+228172C>T)
c.684G>A (p.Leu228=)
c.988G>A (p.Ala330Thr)
 gnomAD v4
3g.184372880A>CCA355461919EIF2B5,THPOc.1115T>G (p.Leu372Arg)
c.695T>G (p.Leu232Arg)
c.678T>G (p.Ser226=)
c.579T>G (p.Ser193=)
c.2106+228173A>C (n.2106+228173A>C)
c.683T>G (p.Leu228Arg)
c.987T>G (p.Ser329=)
3g.184372880A>GCA355461920EIF2B5,THPOc.1115T>C (p.Leu372Pro)
c.695T>C (p.Leu232Pro)
c.678T>C (p.Ser226=)
c.579T>C (p.Ser193=)
c.2106+228173A>G (n.2106+228173A>G)
c.683T>C (p.Leu228Pro)
c.987T>C (p.Ser329=)
3g.184372880A>TCA355461918EIF2B5,THPOc.1115T>A (p.Leu372Gln)
c.695T>A (p.Leu232Gln)
c.678T>A (p.Ser226=)
c.579T>A (p.Ser193=)
c.2106+228173A>T (n.2106+228173A>T)
c.683T>A (p.Leu228Gln)
c.987T>A (p.Ser329=)
3g.184372881G>ACA355461921EIF2B5,THPOc.1114C>T (p.Leu372=)
c.694C>T (p.Leu232=)
c.677C>T (p.Ser226Phe)
c.578C>T (p.Ser193Phe)
c.2106+228174G>A (n.2106+228174G>A)
c.682C>T (p.Leu228=)
c.986C>T (p.Ser329Phe)
 gnomAD v4
3g.184372881G>CCA355461923EIF2B5,THPOc.1114C>G (p.Leu372Val)
c.694C>G (p.Leu232Val)
c.677C>G (p.Ser226Cys)
c.578C>G (p.Ser193Cys)
c.2106+228174G>C (n.2106+228174G>C)
c.682C>G (p.Leu228Val)
c.986C>G (p.Ser329Cys)
3g.184372881G>TCA355461922EIF2B5,THPOc.1114C>A (p.Leu372Met)
c.694C>A (p.Leu232Met)
c.677C>A (p.Ser226Tyr)
c.578C>A (p.Ser193Tyr)
c.2106+228174G>T (n.2106+228174G>T)
c.682C>A (p.Leu228Met)
c.986C>A (p.Ser329Tyr)
3g.184372882A=CA1425997855EIF2B5,THPOc.1113T= (p.Gly371=)
c.693T= (p.Gly231=)
c.676T= (p.Ser226=)
c.577T= (p.Ser193=)
c.2106+228175A= (n.2106+228175A=)
c.681T= (p.Gly227=)
c.985T= (p.Ser329=)
3g.184372882A>CCA355461924EIF2B5,THPOc.1113T>G (p.Gly371=)
c.693T>G (p.Gly231=)
c.676T>G (p.Ser226Ala)
c.577T>G (p.Ser193Ala)
c.2106+228175A>C (n.2106+228175A>C)
c.681T>G (p.Gly227=)
c.985T>G (p.Ser329Ala)
3g.184372882A>GCA355461925EIF2B5,THPOc.1113T>C (p.Gly371=)
c.693T>C (p.Gly231=)
c.676T>C (p.Ser226Pro)
c.577T>C (p.Ser193Pro)
c.2106+228175A>G (n.2106+228175A>G)
c.681T>C (p.Gly227=)
c.985T>C (p.Ser329Pro)
 dbSNP gnomAD v2
3g.184372882A>TCA355461926EIF2B5,THPOc.1113T>A (p.Gly371=)
c.693T>A (p.Gly231=)
c.676T>A (p.Ser226Thr)
c.577T>A (p.Ser193Thr)
c.2106+228175A>T (n.2106+228175A>T)
c.681T>A (p.Gly227=)
c.985T>A (p.Ser329Thr)
3g.184372883C>ACA355461927EIF2B5,THPOc.1112G>T (p.Gly371Val)
c.692G>T (p.Gly231Val)
c.675G>T (p.Trp225Cys)
c.576G>T (p.Trp192Cys)
c.2106+228176C>A (n.2106+228176C>A)
c.680G>T (p.Gly227Val)
c.984G>T (p.Trp328Cys)
3g.184372883C>GCA355461928EIF2B5,THPOc.1112G>C (p.Gly371Ala)
c.692G>C (p.Gly231Ala)
c.675G>C (p.Trp225Cys)
c.576G>C (p.Trp192Cys)
c.2106+228176C>G (n.2106+228176C>G)
c.680G>C (p.Gly227Ala)
c.984G>C (p.Trp328Cys)
3g.184372883C>TCA355461929EIF2B5,THPOc.1112G>A (p.Gly371Asp)
c.692G>A (p.Gly231Asp)
c.675G>A (p.Trp225Ter)
c.576G>A (p.Trp192Ter)
c.2106+228176C>T (n.2106+228176C>T)
c.680G>A (p.Gly227Asp)
c.984G>A (p.Trp328Ter)
3g.184372884C>ACA355461930EIF2B5,THPOc.1111G>T (p.Gly371Cys)
c.691G>T (p.Gly231Cys)
c.674G>T (p.Trp225Leu)
c.575G>T (p.Trp192Leu)
c.2106+228177C>A (n.2106+228177C>A)
c.679G>T (p.Gly227Cys)
c.983G>T (p.Trp328Leu)
3g.184372884C>GCA355461931EIF2B5,THPOc.1111G>C (p.Gly371Arg)
c.691G>C (p.Gly231Arg)
c.674G>C (p.Trp225Ser)
c.575G>C (p.Trp192Ser)
c.2106+228177C>G (n.2106+228177C>G)
c.679G>C (p.Gly227Arg)
c.983G>C (p.Trp328Ser)
3g.184372884C>TCA355461932EIF2B5,THPOc.1111G>A (p.Gly371Ser)
c.691G>A (p.Gly231Ser)
c.674G>A (p.Trp225Ter)
c.575G>A (p.Trp192Ter)
c.2106+228177C>T (n.2106+228177C>T)
c.679G>A (p.Gly227Ser)
c.983G>A (p.Trp328Ter)
3g.184372885A=CA1425997856EIF2B5,THPOc.1110T= (p.Pro370=)
c.690T= (p.Pro230=)
c.673T= (p.Trp225=)
c.574T= (p.Trp192=)
c.2106+228178A= (n.2106+228178A=)
c.678T= (p.Pro226=)
c.982T= (p.Trp328=)
3g.184372885A>CCA355461933EIF2B5,THPOc.1110T>G (p.Pro370=)
c.690T>G (p.Pro230=)
c.673T>G (p.Trp225Gly)
c.574T>G (p.Trp192Gly)
c.2106+228178A>C (n.2106+228178A>C)
c.678T>G (p.Pro226=)
c.982T>G (p.Trp328Gly)
3g.184372885A>GCA2734891EIF2B5,THPOc.1110T>C (p.Pro370=)
c.690T>C (p.Pro230=)
c.673T>C (p.Trp225Arg)
c.574T>C (p.Trp192Arg)
c.2106+228178A>G (n.2106+228178A>G)
c.678T>C (p.Pro226=)
c.982T>C (p.Trp328Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184372885A>TCA355461934EIF2B5,THPOc.1110T>A (p.Pro370=)
c.690T>A (p.Pro230=)
c.673T>A (p.Trp225Arg)
c.574T>A (p.Trp192Arg)
c.2106+228178A>T (n.2106+228178A>T)
c.678T>A (p.Pro226=)
c.982T>A (p.Trp328Arg)
3g.184372885_184372886delinsAGCA1425997857EIF2B5,THPOc.1109_1110delinsCT (p.Pro370=)
c.689_690delinsCT (p.Pro230=)
c.672_673delinsCT (p.Ser224=)
c.573_574delinsCT (p.Ser191=)
c.2106+228178_2106+228179delinsAG (n.2106+228178_2106+228179delinsAG)
c.677_678delinsCT (p.Pro226=)
c.981_982delinsCT (p.Ser327=)
3g.184372886G>ACA355461935EIF2B5,THPOc.1109C>T (p.Pro370Leu)
c.689C>T (p.Pro230Leu)
c.672C>T (p.Ser224=)
c.573C>T (p.Ser191=)
c.2106+228179G>A (n.2106+228179G>A)
c.677C>T (p.Pro226Leu)
c.981C>T (p.Ser327=)
3g.184372886G>CCA355461937EIF2B5,THPOc.1109C>G (p.Pro370Arg)
c.689C>G (p.Pro230Arg)
c.672C>G (p.Ser224=)
c.573C>G (p.Ser191=)
c.2106+228179G>C (n.2106+228179G>C)
c.677C>G (p.Pro226Arg)
c.981C>G (p.Ser327=)
3g.184372886G>TCA355461936EIF2B5,THPOc.1109C>A (p.Pro370His)
c.689C>A (p.Pro230His)
c.672C>A (p.Ser224=)
c.573C>A (p.Ser191=)
c.2106+228179G>T (n.2106+228179G>T)
c.677C>A (p.Pro226His)
c.981C>A (p.Ser327=)
3g.184372887delCA1425997858EIF2B5,THPOc.1109del (p.Pro370LeufsTer4)
c.689del (p.Pro230LeufsTer4)
c.672del (p.Trp225GlyfsTer?)
c.573del (p.Trp192GlyfsTer?)
c.2106+228180del (n.2106+228180del)
c.677del (p.Pro226LeufsTer4)
c.981del (p.Trp328GlyfsTer?)
 dbSNP gnomAD v4
3g.184372887G>ACA355461938EIF2B5,THPOc.1108C>T (p.Pro370Ser)
c.688C>T (p.Pro230Ser)
c.671C>T (p.Ser224Phe)
c.572C>T (p.Ser191Phe)
c.2106+228180G>A (n.2106+228180G>A)
c.676C>T (p.Pro226Ser)
c.980C>T (p.Ser327Phe)
3g.184372887G>CCA355461939EIF2B5,THPOc.1108C>G (p.Pro370Ala)
c.688C>G (p.Pro230Ala)
c.671C>G (p.Ser224Cys)
c.572C>G (p.Ser191Cys)
c.2106+228180G>C (n.2106+228180G>C)
c.676C>G (p.Pro226Ala)
c.980C>G (p.Ser327Cys)
3g.184372887G>TCA355461940EIF2B5,THPOc.1108C>A (p.Pro370Thr)
c.688C>A (p.Pro230Thr)
c.671C>A (p.Ser224Tyr)
c.572C>A (p.Ser191Tyr)
c.2106+228180G>T (n.2106+228180G>T)
c.676C>A (p.Pro226Thr)
c.980C>A (p.Ser327Tyr)
3g.184372888A>CCA355461941EIF2B5,THPOc.1107T>G (p.Ile369Met)
c.687T>G (p.Ile229Met)
c.670T>G (p.Ser224Ala)
c.571T>G (p.Ser191Ala)
c.2106+228181A>C (n.2106+228181A>C)
c.675T>G (p.Ile225Met)
c.979T>G (p.Ser327Ala)
3g.184372888A>GCA355461942EIF2B5,THPOc.1107T>C (p.Ile369=)
c.687T>C (p.Ile229=)
c.670T>C (p.Ser224Pro)
c.571T>C (p.Ser191Pro)
c.2106+228181A>G (n.2106+228181A>G)
c.675T>C (p.Ile225=)
c.979T>C (p.Ser327Pro)
3g.184372888A>TCA355461943EIF2B5,THPOc.1107T>A (p.Ile369=)
c.687T>A (p.Ile229=)
c.670T>A (p.Ser224Thr)
c.571T>A (p.Ser191Thr)
c.2106+228181A>T (n.2106+228181A>T)
c.675T>A (p.Ile225=)
c.979T>A (p.Ser327Thr)
3g.184372889A=CA1425997859EIF2B5,THPOc.1106T= (p.Ile369=)
c.686T= (p.Ile229=)
c.669T= (p.Asp223=)
c.570T= (p.Asp190=)
c.2106+228182A= (n.2106+228182A=)
c.674T= (p.Ile225=)
c.978T= (p.Asp326=)
3g.184372889A>CCA355461944EIF2B5,THPOc.1106T>G (p.Ile369Ser)
c.686T>G (p.Ile229Ser)
c.669T>G (p.Asp223Glu)
c.570T>G (p.Asp190Glu)
c.2106+228182A>C (n.2106+228182A>C)
c.674T>G (p.Ile225Ser)
c.978T>G (p.Asp326Glu)
3g.184372889A>GCA2734892EIF2B5,THPOc.1106T>C (p.Ile369Thr)
c.686T>C (p.Ile229Thr)
c.669T>C (p.Asp223=)
c.570T>C (p.Asp190=)
c.2106+228182A>G (n.2106+228182A>G)
c.674T>C (p.Ile225Thr)
c.978T>C (p.Asp326=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184372889A>TCA355461945EIF2B5,THPOc.1106T>A (p.Ile369Asn)
c.686T>A (p.Ile229Asn)
c.669T>A (p.Asp223Glu)
c.570T>A (p.Asp190Glu)
c.2106+228182A>T (n.2106+228182A>T)
c.674T>A (p.Ile225Asn)
c.978T>A (p.Asp326Glu)
3g.184372890T>ACA355461947EIF2B5,THPOc.1105A>T (p.Ile369Phe)
c.685A>T (p.Ile229Phe)
c.668A>T (p.Asp223Val)
c.569A>T (p.Asp190Val)
c.2106+228183T>A (n.2106+228183T>A)
c.673A>T (p.Ile225Phe)
c.977A>T (p.Asp326Val)
3g.184372890T>CCA355461948EIF2B5,THPOc.1105A>G (p.Ile369Val)
c.685A>G (p.Ile229Val)
c.668A>G (p.Asp223Gly)
c.569A>G (p.Asp190Gly)
c.2106+228183T>C (n.2106+228183T>C)
c.673A>G (p.Ile225Val)
c.977A>G (p.Asp326Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.184372890T>GCA355461946EIF2B5,THPOc.1105A>C (p.Ile369Leu)
c.685A>C (p.Ile229Leu)
c.668A>C (p.Asp223Ala)
c.569A>C (p.Asp190Ala)
c.2106+228183T>G (n.2106+228183T>G)
c.673A>C (p.Ile225Leu)
c.977A>C (p.Asp326Ala)
3g.184372890T=CA1425997860EIF2B5,THPOc.1105A= (p.Ile369=)
c.685A= (p.Ile229=)
c.668A= (p.Asp223=)
c.569A= (p.Asp190=)
c.2106+228183T= (n.2106+228183T=)
c.673A= (p.Ile225=)
c.977A= (p.Asp326=)
3g.184372891C>ACA355461949EIF2B5,THPOc.1104G>T (p.Lys368Asn)
c.684G>T (p.Lys228Asn)
c.667G>T (p.Asp223Tyr)
c.568G>T (p.Asp190Tyr)
c.2106+228184C>A (n.2106+228184C>A)
c.672G>T (p.Lys224Asn)
c.976G>T (p.Asp326Tyr)
 COSMIC
3g.184372891C=CA1425997861EIF2B5,THPOc.1104G= (p.Lys368=)
c.684G= (p.Lys228=)
c.667G= (p.Asp223=)
c.568G= (p.Asp190=)
c.2106+228184C= (n.2106+228184C=)
c.672G= (p.Lys224=)
c.976G= (p.Asp326=)
3g.184372891C>GCA2734893EIF2B5,THPOc.1104G>C (p.Lys368Asn)
c.684G>C (p.Lys228Asn)
c.667G>C (p.Asp223His)
c.568G>C (p.Asp190His)
c.2106+228184C>G (n.2106+228184C>G)
c.672G>C (p.Lys224Asn)
c.976G>C (p.Asp326His)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184372891C>TCA355461950EIF2B5,THPOc.1104G>A (p.Lys368=)
c.684G>A (p.Lys228=)
c.667G>A (p.Asp223Asn)
c.568G>A (p.Asp190Asn)
c.2106+228184C>T (n.2106+228184C>T)
c.672G>A (p.Lys224=)
c.976G>A (p.Asp326Asn)
3g.184372892T>ACA355461951EIF2B5,THPOc.1103A>T (p.Lys368Met)
c.683A>T (p.Lys228Met)
c.666A>T (p.Gln222His)
c.567A>T (p.Gln189His)
c.2106+228185T>A (n.2106+228185T>A)
c.671A>T (p.Lys224Met)
c.975A>T (p.Gln325His)
3g.184372892T>CCA355461952EIF2B5,THPOc.1103A>G (p.Lys368Arg)
c.683A>G (p.Lys228Arg)
c.666A>G (p.Gln222=)
c.567A>G (p.Gln189=)
c.2106+228185T>C (n.2106+228185T>C)
c.671A>G (p.Lys224Arg)
c.975A>G (p.Gln325=)
3g.184372892T>GCA355461953EIF2B5,THPOc.1103A>C (p.Lys368Thr)
c.683A>C (p.Lys228Thr)
c.666A>C (p.Gln222His)
c.567A>C (p.Gln189His)
c.2106+228185T>G (n.2106+228185T>G)
c.671A>C (p.Lys224Thr)
c.975A>C (p.Gln325His)
3g.184372893T>ACA355461954EIF2B5,THPOc.1102A>T (p.Lys368Ter)
c.682A>T (p.Lys228Ter)
c.665A>T (p.Gln222Leu)
c.566A>T (p.Gln189Leu)
c.2106+228186T>A (n.2106+228186T>A)
c.670A>T (p.Lys224Ter)
c.974A>T (p.Gln325Leu)
3g.184372893T>CCA355461955EIF2B5,THPOc.1102A>G (p.Lys368Glu)
c.682A>G (p.Lys228Glu)
c.665A>G (p.Gln222Arg)
c.566A>G (p.Gln189Arg)
c.2106+228186T>C (n.2106+228186T>C)
c.670A>G (p.Lys224Glu)
c.974A>G (p.Gln325Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.184372893T>GCA355461956EIF2B5,THPOc.1102A>C (p.Lys368Gln)
c.682A>C (p.Lys228Gln)
c.665A>C (p.Gln222Pro)
c.566A>C (p.Gln189Pro)
c.2106+228186T>G (n.2106+228186T>G)
c.670A>C (p.Lys224Gln)
c.974A>C (p.Gln325Pro)
3g.184372893T=CA1425997862EIF2B5,THPOc.1102A= (p.Lys368=)
c.682A= (p.Lys228=)
c.665A= (p.Gln222=)
c.566A= (p.Gln189=)
c.2106+228186T= (n.2106+228186T=)
c.670A= (p.Lys224=)
c.974A= (p.Gln325=)
3g.184372894G>ACA355461957EIF2B5,THPOc.1101C>T (p.Ala367=)
c.681C>T (p.Ala227=)
c.664C>T (p.Gln222Ter)
c.565C>T (p.Gln189Ter)
c.2106+228187G>A (n.2106+228187G>A)
c.669C>T (p.Ala223=)
c.973C>T (p.Gln325Ter)
3g.184372894G>CCA355461958EIF2B5,THPOc.1101C>G (p.Ala367=)
c.681C>G (p.Ala227=)
c.664C>G (p.Gln222Glu)
c.565C>G (p.Gln189Glu)
c.2106+228187G>C (n.2106+228187G>C)
c.669C>G (p.Ala223=)
c.973C>G (p.Gln325Glu)
3g.184372894G>TCA355461959EIF2B5,THPOc.1101C>A (p.Ala367=)
c.681C>A (p.Ala227=)
c.664C>A (p.Gln222Lys)
c.565C>A (p.Gln189Lys)
c.2106+228187G>T (n.2106+228187G>T)
c.669C>A (p.Ala223=)
c.973C>A (p.Gln325Lys)
3g.184372895G>ACA2734894EIF2B5,THPOc.1100C>T (p.Ala367Val)
c.680C>T (p.Ala227Val)
c.663C>T (p.Ser221=)
c.564C>T (p.Ser188=)
c.2106+228188G>A (n.2106+228188G>A)
c.668C>T (p.Ala223Val)
c.972C>T (p.Ser324=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372895G>CCA355461960EIF2B5,THPOc.1100C>G (p.Ala367Gly)
c.680C>G (p.Ala227Gly)
c.663C>G (p.Ser221Arg)
c.564C>G (p.Ser188Arg)
c.2106+228188G>C (n.2106+228188G>C)
c.668C>G (p.Ala223Gly)
c.972C>G (p.Ser324Arg)
3g.184372895G=CA1425997863EIF2B5,THPOc.1100C= (p.Ala367=)
c.680C= (p.Ala227=)
c.663C= (p.Ser221=)
c.564C= (p.Ser188=)
c.2106+228188G= (n.2106+228188G=)
c.668C= (p.Ala223=)
c.972C= (p.Ser324=)
3g.184372895G>TCA355461961EIF2B5,THPOc.1100C>A (p.Ala367Asp)
c.680C>A (p.Ala227Asp)
c.663C>A (p.Ser221Arg)
c.564C>A (p.Ser188Arg)
c.2106+228188G>T (n.2106+228188G>T)
c.668C>A (p.Ala223Asp)
c.972C>A (p.Ser324Arg)
 dbSNP
3g.184372896C>ACA355461962EIF2B5,THPOc.1099G>T (p.Ala367Ser)
c.679G>T (p.Ala227Ser)
c.662G>T (p.Ser221Ile)
c.563G>T (p.Ser188Ile)
c.2106+228189C>A (n.2106+228189C>A)
c.667G>T (p.Ala223Ser)
c.971G>T (p.Ser324Ile)
3g.184372896C=CA1425997864EIF2B5,THPOc.1099G= (p.Ala367=)
c.679G= (p.Ala227=)
c.662G= (p.Ser221=)
c.563G= (p.Ser188=)
c.2106+228189C= (n.2106+228189C=)
c.667G= (p.Ala223=)
c.971G= (p.Ser324=)
3g.184372896C>GCA355461963EIF2B5,THPOc.1099G>C (p.Ala367Pro)
c.679G>C (p.Ala227Pro)
c.662G>C (p.Ser221Thr)
c.563G>C (p.Ser188Thr)
c.2106+228189C>G (n.2106+228189C>G)
c.667G>C (p.Ala223Pro)
c.971G>C (p.Ser324Thr)
3g.184372896C>TCA88912353EIF2B5,THPOc.1099G>A (p.Ala367Thr)
c.679G>A (p.Ala227Thr)
c.662G>A (p.Ser221Asn)
c.563G>A (p.Ser188Asn)
c.2106+228189C>T (n.2106+228189C>T)
c.667G>A (p.Ala223Thr)
c.971G>A (p.Ser324Asn)
 dbSNP gnomAD v2 gnomAD v4
3g.184372897T>ACA355461964EIF2B5,THPOc.1098A>T (p.Arg366Ser)
c.678A>T (p.Arg226Ser)
c.661A>T (p.Ser221Cys)
c.562A>T (p.Ser188Cys)
c.2106+228190T>A (n.2106+228190T>A)
c.666A>T (p.Arg222Ser)
c.970A>T (p.Ser324Cys)
3g.184372897T>CCA355461965EIF2B5,THPOc.1098A>G (p.Arg366=)
c.678A>G (p.Arg226=)
c.661A>G (p.Ser221Gly)
c.562A>G (p.Ser188Gly)
c.2106+228190T>C (n.2106+228190T>C)
c.666A>G (p.Arg222=)
c.970A>G (p.Ser324Gly)
 gnomAD v4
3g.184372897T>GCA355461966EIF2B5,THPOc.1098A>C (p.Arg366Ser)
c.678A>C (p.Arg226Ser)
c.661A>C (p.Ser221Arg)
c.562A>C (p.Ser188Arg)
c.2106+228190T>G (n.2106+228190T>G)
c.666A>C (p.Arg222Ser)
c.970A>C (p.Ser324Arg)
3g.184372898C>ACA355461967EIF2B5,THPOc.1097G>T (p.Arg366Ile)
c.677G>T (p.Arg226Ile)
c.660G>T (p.Gln220His)
c.561G>T (p.Gln187His)
c.2106+228191C>A (n.2106+228191C>A)
c.665G>T (p.Arg222Ile)
n.248G>T
c.969G>T (p.Gln323His)
3g.184372898C=CA1425997865EIF2B5,THPOc.1097G= (p.Arg366=)
c.677G= (p.Arg226=)
c.660G= (p.Gln220=)
c.561G= (p.Gln187=)
c.2106+228191C= (n.2106+228191C=)
c.665G= (p.Arg222=)
n.248G=
c.969G= (p.Gln323=)
3g.184372898C>GCA355461968EIF2B5,THPOc.1097G>C (p.Arg366Thr)
c.677G>C (p.Arg226Thr)
c.660G>C (p.Gln220His)
c.561G>C (p.Gln187His)
c.2106+228191C>G (n.2106+228191C>G)
c.665G>C (p.Arg222Thr)
n.248G>C
c.969G>C (p.Gln323His)
 dbSNP gnomAD v3 gnomAD v4
3g.184372898C>TCA88912354EIF2B5,THPOc.1097G>A (p.Arg366Lys)
c.677G>A (p.Arg226Lys)
c.660G>A (p.Gln220=)
c.561G>A (p.Gln187=)
c.2106+228191C>T (n.2106+228191C>T)
c.665G>A (p.Arg222Lys)
n.248G>A
c.969G>A (p.Gln323=)
 dbSNP
3g.184372899T>ACA355461969EIF2B5,THPOc.1096A>T (p.Arg366Ter)
c.676A>T (p.Arg226Ter)
c.659A>T (p.Gln220Leu)
c.560A>T (p.Gln187Leu)
c.2106+228192T>A (n.2106+228192T>A)
c.664A>T (p.Arg222Ter)
n.247A>T
c.968A>T (p.Gln323Leu)
3g.184372899T>CCA2734895EIF2B5,THPOc.1096A>G (p.Arg366Gly)
c.676A>G (p.Arg226Gly)
c.659A>G (p.Gln220Arg)
c.560A>G (p.Gln187Arg)
c.2106+228192T>C (n.2106+228192T>C)
c.664A>G (p.Arg222Gly)
n.247A>G
c.968A>G (p.Gln323Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184372899T>GCA355461970EIF2B5,THPOc.1096A>C (p.Arg366=)
c.676A>C (p.Arg226=)
c.659A>C (p.Gln220Pro)
c.560A>C (p.Gln187Pro)
c.2106+228192T>G (n.2106+228192T>G)
c.664A>C (p.Arg222=)
n.247A>C
c.968A>C (p.Gln323Pro)
 gnomAD v4
3g.184372899T=CA1425997866EIF2B5,THPOc.1096A= (p.Arg366=)
c.676A= (p.Arg226=)
c.659A= (p.Gln220=)
c.560A= (p.Gln187=)
c.2106+228192T= (n.2106+228192T=)
c.664A= (p.Arg222=)
n.247A=
c.968A= (p.Gln323=)
3g.184372900G>ACA355461973EIF2B5,THPOc.1095C>T (p.Phe365=)
c.675C>T (p.Phe225=)
c.658C>T (p.Gln220Ter)
c.559C>T (p.Gln187Ter)
c.2106+228193G>A (n.2106+228193G>A)
c.663C>T (p.Phe221=)
n.246C>T
c.967C>T (p.Gln323Ter)
3g.184372900G>CCA355461972EIF2B5,THPOc.1095C>G (p.Phe365Leu)
c.675C>G (p.Phe225Leu)
c.658C>G (p.Gln220Glu)
c.559C>G (p.Gln187Glu)
c.2106+228193G>C (n.2106+228193G>C)
c.663C>G (p.Phe221Leu)
n.246C>G
c.967C>G (p.Gln323Glu)
3g.184372900G>TCA355461971EIF2B5,THPOc.1095C>A (p.Phe365Leu)
c.675C>A (p.Phe225Leu)
c.658C>A (p.Gln220Lys)
c.559C>A (p.Gln187Lys)
c.2106+228193G>T (n.2106+228193G>T)
c.663C>A (p.Phe221Leu)
n.246C>A
c.967C>A (p.Gln323Lys)
3g.184372901A>CCA355461974EIF2B5,THPOc.1094T>G (p.Phe365Cys)
c.674T>G (p.Phe225Cys)
c.657T>G (p.Ile219Met)
c.558T>G (p.Ile186Met)
c.2106+228194A>C (n.2106+228194A>C)
c.662T>G (p.Phe221Cys)
n.245T>G
c.966T>G (p.Ile322Met)
3g.184372901A>GCA355461976EIF2B5,THPOc.1094T>C (p.Phe365Ser)
c.674T>C (p.Phe225Ser)
c.657T>C (p.Ile219=)
c.558T>C (p.Ile186=)
c.2106+228194A>G (n.2106+228194A>G)
c.662T>C (p.Phe221Ser)
n.245T>C
c.966T>C (p.Ile322=)
3g.184372901A>TCA355461975EIF2B5,THPOc.1094T>A (p.Phe365Tyr)
c.674T>A (p.Phe225Tyr)
c.657T>A (p.Ile219=)
c.558T>A (p.Ile186=)
c.2106+228194A>T (n.2106+228194A>T)
c.662T>A (p.Phe221Tyr)
n.245T>A
c.966T>A (p.Ile322=)
3g.184372902delCA2668833286EIF2B5,THPOc.1094del (p.Phe365SerfsTer9)
c.674del (p.Phe225SerfsTer9)
c.657del (p.Gln220ArgfsTer?)
c.558del (p.Gln187ArgfsTer?)
c.2106+228195del (n.2106+228195del)
c.662del (p.Phe221SerfsTer9)
n.245del
c.966del (p.Gln323ArgfsTer?)
 gnomAD v4
3g.184372902A=CA1425997867EIF2B5,THPOc.1093T= (p.Phe365=)
c.673T= (p.Phe225=)
c.656T= (p.Ile219=)
c.557T= (p.Ile186=)
c.2106+228195A= (n.2106+228195A=)
c.661T= (p.Phe221=)
n.244T=
c.965T= (p.Ile322=)
3g.184372902A>CCA355461977EIF2B5,THPOc.1093T>G (p.Phe365Val)
c.673T>G (p.Phe225Val)
c.656T>G (p.Ile219Ser)
c.557T>G (p.Ile186Ser)
c.2106+228195A>C (n.2106+228195A>C)
c.661T>G (p.Phe221Val)
n.244T>G
c.965T>G (p.Ile322Ser)
3g.184372902A>GCA355461979EIF2B5,THPOc.1093T>C (p.Phe365Leu)
c.673T>C (p.Phe225Leu)
c.656T>C (p.Ile219Thr)
c.557T>C (p.Ile186Thr)
c.2106+228195A>G (n.2106+228195A>G)
c.661T>C (p.Phe221Leu)
n.244T>C
c.965T>C (p.Ile322Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184372902A>TCA355461978EIF2B5,THPOc.1093T>A (p.Phe365Ile)
c.673T>A (p.Phe225Ile)
c.656T>A (p.Ile219Asn)
c.557T>A (p.Ile186Asn)
c.2106+228195A>T (n.2106+228195A>T)
c.661T>A (p.Phe221Ile)
n.244T>A
c.965T>A (p.Ile322Asn)
3g.184372903T>ACA355461980EIF2B5,THPOc.1092A>T (p.Gly364=)
c.672A>T (p.Gly224=)
c.655A>T (p.Ile219Phe)
c.556A>T (p.Ile186Phe)
c.2106+228196T>A (n.2106+228196T>A)
c.660A>T (p.Gly220=)
n.243A>T
c.964A>T (p.Ile322Phe)
3g.184372903T>CCA355461981EIF2B5,THPOc.1092A>G (p.Gly364=)
c.672A>G (p.Gly224=)
c.655A>G (p.Ile219Val)
c.556A>G (p.Ile186Val)
c.2106+228196T>C (n.2106+228196T>C)
c.660A>G (p.Gly220=)
n.243A>G
c.964A>G (p.Ile322Val)
 dbSNP
3g.184372903T>GCA355461982EIF2B5,THPOc.1092A>C (p.Gly364=)
c.672A>C (p.Gly224=)
c.655A>C (p.Ile219Leu)
c.556A>C (p.Ile186Leu)
c.2106+228196T>G (n.2106+228196T>G)
c.660A>C (p.Gly220=)
n.243A>C
c.964A>C (p.Ile322Leu)
3g.184372903T=CA1425997868EIF2B5,THPOc.1092A= (p.Gly364=)
c.672A= (p.Gly224=)
c.655A= (p.Ile219=)
c.556A= (p.Ile186=)
c.2106+228196T= (n.2106+228196T=)
c.660A= (p.Gly220=)
n.243A=
c.964A= (p.Ile322=)
3g.184372904C>ACA355461983EIF2B5,THPOc.1091G>T (p.Gly364Val)
c.671G>T (p.Gly224Val)
c.654G>T (p.Gly218=)
c.555G>T (p.Gly185=)
c.2106+228197C>A (n.2106+228197C>A)
c.659G>T (p.Gly220Val)
n.242G>T
c.963G>T (p.Gly321=)
3g.184372904C=CA1425997869EIF2B5,THPOc.1091G= (p.Gly364=)
c.671G= (p.Gly224=)
c.654G= (p.Gly218=)
c.555G= (p.Gly185=)
c.2106+228197C= (n.2106+228197C=)
c.659G= (p.Gly220=)
n.242G=
c.963G= (p.Gly321=)
3g.184372904C>GCA355461984EIF2B5,THPOc.1091G>C (p.Gly364Ala)
c.671G>C (p.Gly224Ala)
c.654G>C (p.Gly218=)
c.555G>C (p.Gly185=)
c.2106+228197C>G (n.2106+228197C>G)
c.659G>C (p.Gly220Ala)
n.242G>C
c.963G>C (p.Gly321=)
3g.184372904C>TCA10617806EIF2B5,THPOc.1091G>A (p.Gly364Glu)
c.671G>A (p.Gly224Glu)
c.654G>A (p.Gly218=)
c.555G>A (p.Gly185=)
c.2106+228197C>T (n.2106+228197C>T)
c.659G>A (p.Gly220Glu)
n.242G>A
c.963G>A (p.Gly321=)
 ClinVar dbSNP
3g.184372905C>ACA355461985EIF2B5,THPOc.1090G>T (p.Gly364Ter)
c.670G>T (p.Gly224Ter)
c.653G>T (p.Gly218Val)
c.554G>T (p.Gly185Val)
c.2106+228198C>A (n.2106+228198C>A)
c.658G>T (p.Gly220Ter)
n.241G>T
c.962G>T (p.Gly321Val)
3g.184372905C=CA1425997870EIF2B5,THPOc.1090G= (p.Gly364=)
c.670G= (p.Gly224=)
c.653G= (p.Gly218=)
c.554G= (p.Gly185=)
c.2106+228198C= (n.2106+228198C=)
c.658G= (p.Gly220=)
n.241G=
c.962G= (p.Gly321=)
3g.184372905C>GCA355461986EIF2B5,THPOc.1090G>C (p.Gly364Arg)
c.670G>C (p.Gly224Arg)
c.653G>C (p.Gly218Ala)
c.554G>C (p.Gly185Ala)
c.2106+228198C>G (n.2106+228198C>G)
c.658G>C (p.Gly220Arg)
n.241G>C
c.962G>C (p.Gly321Ala)
3g.184372905C>TCA355461987EIF2B5,THPOc.1090G>A (p.Gly364Arg)
c.670G>A (p.Gly224Arg)
c.653G>A (p.Gly218Glu)
c.554G>A (p.Gly185Glu)
c.2106+228198C>T (n.2106+228198C>T)
c.658G>A (p.Gly220Arg)
n.241G>A
c.962G>A (p.Gly321Glu)
 dbSNP COSMIC
3g.184372906C>ACA355461988EIF2B5,THPOc.1089G>T (p.Gln363His)
c.669G>T (p.Gln223His)
c.652G>T (p.Gly218Trp)
c.553G>T (p.Gly185Trp)
c.2106+228199C>A (n.2106+228199C>A)
c.657G>T (p.Gln219His)
n.240G>T
c.961G>T (p.Gly321Trp)
3g.184372906C>GCA355461989EIF2B5,THPOc.1089G>C (p.Gln363His)
c.669G>C (p.Gln223His)
c.652G>C (p.Gly218Arg)
c.553G>C (p.Gly185Arg)
c.2106+228199C>G (n.2106+228199C>G)
c.657G>C (p.Gln219His)
n.240G>C
c.961G>C (p.Gly321Arg)
3g.184372906C>TCA355461990EIF2B5,THPOc.1089G>A (p.Gln363=)
c.669G>A (p.Gln223=)
c.652G>A (p.Gly218Arg)
c.553G>A (p.Gly185Arg)
c.2106+228199C>T (n.2106+228199C>T)
c.657G>A (p.Gln219=)
n.240G>A
c.961G>A (p.Gly321Arg)
3g.184372907T>ACA355461991EIF2B5,THPOc.1088A>T (p.Gln363Leu)
c.668A>T (p.Gln223Leu)
c.651A>T (p.Ala217=)
c.552A>T (p.Ala184=)
c.2106+228200T>A (n.2106+228200T>A)
c.656A>T (p.Gln219Leu)
n.239A>T
c.960A>T (p.Ala320=)
3g.184372907T>CCA2734896EIF2B5,THPOc.1088A>G (p.Gln363Arg)
c.668A>G (p.Gln223Arg)
c.651A>G (p.Ala217=)
c.552A>G (p.Ala184=)
c.2106+228200T>C (n.2106+228200T>C)
c.656A>G (p.Gln219Arg)
n.239A>G
c.960A>G (p.Ala320=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372907T>GCA355461992EIF2B5,THPOc.1088A>C (p.Gln363Pro)
c.668A>C (p.Gln223Pro)
c.651A>C (p.Ala217=)
c.552A>C (p.Ala184=)
c.2106+228200T>G (n.2106+228200T>G)
c.656A>C (p.Gln219Pro)
n.239A>C
c.960A>C (p.Ala320=)
3g.184372907T=CA1425997871EIF2B5,THPOc.1088A= (p.Gln363=)
c.668A= (p.Gln223=)
c.651A= (p.Ala217=)
c.552A= (p.Ala184=)
c.2106+228200T= (n.2106+228200T=)
c.656A= (p.Gln219=)
n.239A=
c.960A= (p.Ala320=)
3g.184372908G>ACA355461993EIF2B5,THPOc.1087C>T (p.Gln363Ter)
c.667C>T (p.Gln223Ter)
c.650C>T (p.Ala217Val)
c.551C>T (p.Ala184Val)
c.2106+228201G>A (n.2106+228201G>A)
c.655C>T (p.Gln219Ter)
n.238C>T
c.959C>T (p.Ala320Val)
 gnomAD v4
3g.184372908G>CCA355461994EIF2B5,THPOc.1087C>G (p.Gln363Glu)
c.667C>G (p.Gln223Glu)
c.650C>G (p.Ala217Gly)
c.551C>G (p.Ala184Gly)
c.2106+228201G>C (n.2106+228201G>C)
c.655C>G (p.Gln219Glu)
n.238C>G
c.959C>G (p.Ala320Gly)
3g.184372908G>TCA355461995EIF2B5,THPOc.1087C>A (p.Gln363Lys)
c.667C>A (p.Gln223Lys)
c.650C>A (p.Ala217Glu)
c.551C>A (p.Ala184Glu)
c.2106+228201G>T (n.2106+228201G>T)
c.655C>A (p.Gln219Lys)
n.238C>A
c.959C>A (p.Ala320Glu)
 gnomAD v4
3g.184372909C>ACA355461996EIF2B5,THPOc.1086G>T (p.Gln362His)
c.666G>T (p.Gln222His)
c.649G>T (p.Ala217Ser)
c.550G>T (p.Ala184Ser)
c.2106+228202C>A (n.2106+228202C>A)
c.654G>T (p.Gln218His)
n.237G>T
c.958G>T (p.Ala320Ser)
3g.184372909C>GCA355461997EIF2B5,THPOc.1086G>C (p.Gln362His)
c.666G>C (p.Gln222His)
c.649G>C (p.Ala217Pro)
c.550G>C (p.Ala184Pro)
c.2106+228202C>G (n.2106+228202C>G)
c.654G>C (p.Gln218His)
n.237G>C
c.958G>C (p.Ala320Pro)
3g.184372909C>TCA355461998EIF2B5,THPOc.1086G>A (p.Gln362=)
c.666G>A (p.Gln222=)
c.649G>A (p.Ala217Thr)
c.550G>A (p.Ala184Thr)
c.2106+228202C>T (n.2106+228202C>T)
c.654G>A (p.Gln218=)
n.237G>A
c.958G>A (p.Ala320Thr)
3g.184372910T>ACA355461999EIF2B5,THPOc.1085A>T (p.Gln362Leu)
c.665A>T (p.Gln222Leu)
c.648A>T (p.Ala216=)
c.549A>T (p.Ala183=)
c.2106+228203T>A (n.2106+228203T>A)
c.653A>T (p.Gln218Leu)
n.236A>T
c.957A>T (p.Ala319=)
3g.184372910T>CCA355462000EIF2B5,THPOc.1085A>G (p.Gln362Arg)
c.665A>G (p.Gln222Arg)
c.648A>G (p.Ala216=)
c.549A>G (p.Ala183=)
c.2106+228203T>C (n.2106+228203T>C)
c.653A>G (p.Gln218Arg)
n.236A>G
c.957A>G (p.Ala319=)
3g.184372910T>GCA355462001EIF2B5,THPOc.1085A>C (p.Gln362Pro)
c.665A>C (p.Gln222Pro)
c.648A>C (p.Ala216=)
c.549A>C (p.Ala183=)
c.2106+228203T>G (n.2106+228203T>G)
c.653A>C (p.Gln218Pro)
n.236A>C
c.957A>C (p.Ala319=)
3g.184372911delCA2541093231EIF2B5,THPOc.1084del (p.Gln362SerfsTer12)
c.664del (p.Gln222SerfsTer12)
c.647del (p.Ala216GlufsTer?)
c.548del (p.Ala183GlufsTer?)
c.2106+228204del (n.2106+228204del)
c.652del (p.Gln218SerfsTer12)
n.235del
c.956del (p.Ala319GlufsTer?)
3g.184372911G>ACA355462004EIF2B5,THPOc.1084C>T (p.Gln362Ter)
c.664C>T (p.Gln222Ter)
c.647C>T (p.Ala216Val)
c.548C>T (p.Ala183Val)
c.2106+228204G>A (n.2106+228204G>A)
c.652C>T (p.Gln218Ter)
n.235C>T
c.956C>T (p.Ala319Val)
3g.184372911G>CCA355462003EIF2B5,THPOc.1084C>G (p.Gln362Glu)
c.664C>G (p.Gln222Glu)
c.647C>G (p.Ala216Gly)
c.548C>G (p.Ala183Gly)
c.2106+228204G>C (n.2106+228204G>C)
c.652C>G (p.Gln218Glu)
n.235C>G
c.956C>G (p.Ala319Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184372911G=CA1425997872EIF2B5,THPOc.1084C= (p.Gln362=)
c.664C= (p.Gln222=)
c.647C= (p.Ala216=)
c.548C= (p.Ala183=)
c.2106+228204G= (n.2106+228204G=)
c.652C= (p.Gln218=)
n.235C=
c.956C= (p.Ala319=)
3g.184372911G>TCA355462002EIF2B5,THPOc.1084C>A (p.Gln362Lys)
c.664C>A (p.Gln222Lys)
c.647C>A (p.Ala216Glu)
c.548C>A (p.Ala183Glu)
c.2106+228204G>T (n.2106+228204G>T)
c.652C>A (p.Gln218Lys)
n.235C>A
c.956C>A (p.Ala319Glu)
3g.184372912C>ACA355462005EIF2B5,THPOc.1083G>T (p.Trp361Cys)
c.663G>T (p.Trp221Cys)
c.646G>T (p.Ala216Ser)
c.547G>T (p.Ala183Ser)
c.2106+228205C>A (n.2106+228205C>A)
c.651G>T (p.Trp217Cys)
n.234G>T
c.955G>T (p.Ala319Ser)
3g.184372912C>GCA355462006EIF2B5,THPOc.1083G>C (p.Trp361Cys)
c.663G>C (p.Trp221Cys)
c.646G>C (p.Ala216Pro)
c.547G>C (p.Ala183Pro)
c.2106+228205C>G (n.2106+228205C>G)
c.651G>C (p.Trp217Cys)
n.234G>C
c.955G>C (p.Ala319Pro)
3g.184372912C>TCA355462007EIF2B5,THPOc.1083G>A (p.Trp361Ter)
c.663G>A (p.Trp221Ter)
c.646G>A (p.Ala216Thr)
c.547G>A (p.Ala183Thr)
c.2106+228205C>T (n.2106+228205C>T)
c.651G>A (p.Trp217Ter)
n.234G>A
c.955G>A (p.Ala319Thr)
3g.184372913C>ACA355462008EIF2B5,THPOc.1082G>T (p.Trp361Leu)
c.662G>T (p.Trp221Leu)
c.645G>T (p.Val215=)
c.546G>T (p.Val182=)
c.2106+228206C>A (n.2106+228206C>A)
c.650G>T (p.Trp217Leu)
n.233G>T
c.954G>T (p.Val318=)
3g.184372913C>GCA355462009EIF2B5,THPOc.1082G>C (p.Trp361Ser)
c.662G>C (p.Trp221Ser)
c.645G>C (p.Val215=)
c.546G>C (p.Val182=)
c.2106+228206C>G (n.2106+228206C>G)
c.650G>C (p.Trp217Ser)
n.233G>C
c.954G>C (p.Val318=)
3g.184372913C>TCA355462010EIF2B5,THPOc.1082G>A (p.Trp361Ter)
c.662G>A (p.Trp221Ter)
c.645G>A (p.Val215=)
c.546G>A (p.Val182=)
c.2106+228206C>T (n.2106+228206C>T)
c.650G>A (p.Trp217Ter)
n.233G>A
c.954G>A (p.Val318=)
3g.184372914A>CCA355462011EIF2B5,THPOc.1081T>G (p.Trp361Gly)
c.661T>G (p.Trp221Gly)
c.644T>G (p.Val215Gly)
c.545T>G (p.Val182Gly)
c.2106+228207A>C (n.2106+228207A>C)
c.649T>G (p.Trp217Gly)
n.232T>G
c.953T>G (p.Val318Gly)
3g.184372914A>GCA355462012EIF2B5,THPOc.1081T>C (p.Trp361Arg)
c.661T>C (p.Trp221Arg)
c.644T>C (p.Val215Ala)
c.545T>C (p.Val182Ala)
c.2106+228207A>G (n.2106+228207A>G)
c.649T>C (p.Trp217Arg)
n.232T>C
c.953T>C (p.Val318Ala)
3g.184372914A>TCA355462013EIF2B5,THPOc.1081T>A (p.Trp361Arg)
c.661T>A (p.Trp221Arg)
c.644T>A (p.Val215Glu)
c.545T>A (p.Val182Glu)
c.2106+228207A>T (n.2106+228207A>T)
c.649T>A (p.Trp217Arg)
n.232T>A
c.953T>A (p.Val318Glu)
3g.184372915C>ACA355462014EIF2B5,THPOc.1080G>T (p.Lys360Asn)
c.660G>T (p.Lys220Asn)
c.643G>T (p.Val215Leu)
c.544G>T (p.Val182Leu)
c.2106+228208C>A (n.2106+228208C>A)
c.648G>T (p.Lys216Asn)
n.231G>T
c.952G>T (p.Val318Leu)
3g.184372915C=CA1425997873EIF2B5,THPOc.1080G= (p.Lys360=)
c.660G= (p.Lys220=)
c.643G= (p.Val215=)
c.544G= (p.Val182=)
c.2106+228208C= (n.2106+228208C=)
c.648G= (p.Lys216=)
n.231G=
c.952G= (p.Val318=)
3g.184372915C>GCA355462015EIF2B5,THPOc.1080G>C (p.Lys360Asn)
c.660G>C (p.Lys220Asn)
c.643G>C (p.Val215Leu)
c.544G>C (p.Val182Leu)
c.2106+228208C>G (n.2106+228208C>G)
c.648G>C (p.Lys216Asn)
n.231G>C
c.952G>C (p.Val318Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.184372915C>TCA355462016EIF2B5,THPOc.1080G>A (p.Lys360=)
c.660G>A (p.Lys220=)
c.643G>A (p.Val215Met)
c.544G>A (p.Val182Met)
c.2106+228208C>T (n.2106+228208C>T)
c.648G>A (p.Lys216=)
n.231G>A
c.952G>A (p.Val318Met)
3g.184372916T>ACA355462019EIF2B5,THPOc.1079A>T (p.Lys360Met)
c.659A>T (p.Lys220Met)
c.642A>T (p.Glu214Asp)
c.543A>T (p.Glu181Asp)
c.2106+228209T>A (n.2106+228209T>A)
c.647A>T (p.Lys216Met)
n.230A>T
c.951A>T (p.Glu317Asp)
3g.184372916T>CCA355462017EIF2B5,THPOc.1079A>G (p.Lys360Arg)
c.659A>G (p.Lys220Arg)
c.642A>G (p.Glu214=)
c.543A>G (p.Glu181=)
c.2106+228209T>C (n.2106+228209T>C)
c.647A>G (p.Lys216Arg)
n.230A>G
c.951A>G (p.Glu317=)
3g.184372916T>GCA355462018EIF2B5,THPOc.1079A>C (p.Lys360Thr)
c.659A>C (p.Lys220Thr)
c.642A>C (p.Glu214Asp)
c.543A>C (p.Glu181Asp)
c.2106+228209T>G (n.2106+228209T>G)
c.647A>C (p.Lys216Thr)
n.230A>C
c.951A>C (p.Glu317Asp)
3g.184372917T>ACA355462020EIF2B5,THPOc.1078A>T (p.Lys360Ter)
c.658A>T (p.Lys220Ter)
c.641A>T (p.Glu214Val)
c.542A>T (p.Glu181Val)
c.2106+228210T>A (n.2106+228210T>A)
c.646A>T (p.Lys216Ter)
n.229A>T
c.950A>T (p.Glu317Val)
3g.184372917T>CCA355462021EIF2B5,THPOc.1078A>G (p.Lys360Glu)
c.658A>G (p.Lys220Glu)
c.641A>G (p.Glu214Gly)
c.542A>G (p.Glu181Gly)
c.2106+228210T>C (n.2106+228210T>C)
c.646A>G (p.Lys216Glu)
n.229A>G
c.950A>G (p.Glu317Gly)
3g.184372917T>GCA355462022EIF2B5,THPOc.1078A>C (p.Lys360Gln)
c.658A>C (p.Lys220Gln)
c.641A>C (p.Glu214Ala)
c.542A>C (p.Glu181Ala)
c.2106+228210T>G (n.2106+228210T>G)
c.646A>C (p.Lys216Gln)
n.229A>C
c.950A>C (p.Glu317Ala)
3g.184372918C>ACA2734897EIF2B5,THPOc.1077G>T (p.Leu359=)
c.657G>T (p.Leu219=)
c.640G>T (p.Glu214Ter)
c.541G>T (p.Glu181Ter)
c.2106+228211C>A (n.2106+228211C>A)
c.645G>T (p.Leu215=)
n.228G>T
c.949G>T (p.Glu317Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372918C=CA1425997874EIF2B5,THPOc.1077G= (p.Leu359=)
c.657G= (p.Leu219=)
c.640G= (p.Glu214=)
c.541G= (p.Glu181=)
c.2106+228211C= (n.2106+228211C=)
c.645G= (p.Leu215=)
n.228G=
c.949G= (p.Glu317=)
3g.184372918C>GCA355462023EIF2B5,THPOc.1077G>C (p.Leu359=)
c.657G>C (p.Leu219=)
c.640G>C (p.Glu214Gln)
c.541G>C (p.Glu181Gln)
c.2106+228211C>G (n.2106+228211C>G)
c.645G>C (p.Leu215=)
n.228G>C
c.949G>C (p.Glu317Gln)
3g.184372918C>TCA355462024EIF2B5,THPOc.1077G>A (p.Leu359=)
c.657G>A (p.Leu219=)
c.640G>A (p.Glu214Lys)
c.541G>A (p.Glu181Lys)
c.2106+228211C>T (n.2106+228211C>T)
c.645G>A (p.Leu215=)
n.228G>A
c.949G>A (p.Glu317Lys)
3g.184372919A>CCA355462025EIF2B5,THPOc.1076T>G (p.Leu359Arg)
c.656T>G (p.Leu219Arg)
c.639T>G (p.Ser213=)
c.540T>G (p.Ser180=)
c.2106+228212A>C (n.2106+228212A>C)
c.644T>G (p.Leu215Arg)
n.227T>G
c.948T>G (p.Ser316=)
3g.184372919A>GCA355462026EIF2B5,THPOc.1076T>C (p.Leu359Pro)
c.656T>C (p.Leu219Pro)
c.639T>C (p.Ser213=)
c.540T>C (p.Ser180=)
c.2106+228212A>G (n.2106+228212A>G)
c.644T>C (p.Leu215Pro)
n.227T>C
c.948T>C (p.Ser316=)
 gnomAD v4
3g.184372919A>TCA355462027EIF2B5,THPOc.1076T>A (p.Leu359Gln)
c.656T>A (p.Leu219Gln)
c.639T>A (p.Ser213=)
c.540T>A (p.Ser180=)
c.2106+228212A>T (n.2106+228212A>T)
c.644T>A (p.Leu215Gln)
n.227T>A
c.948T>A (p.Ser316=)
3g.184372920G>ACA355462028EIF2B5,THPOc.1075C>T (p.Leu359=)
c.655C>T (p.Leu219=)
c.638C>T (p.Ser213Phe)
c.539C>T (p.Ser180Phe)
c.2106+228213G>A (n.2106+228213G>A)
c.643C>T (p.Leu215=)
n.226C>T
c.947C>T (p.Ser316Phe)
3g.184372920G>CCA355462029EIF2B5,THPOc.1075C>G (p.Leu359Val)
c.655C>G (p.Leu219Val)
c.638C>G (p.Ser213Cys)
c.539C>G (p.Ser180Cys)
c.2106+228213G>C (n.2106+228213G>C)
c.643C>G (p.Leu215Val)
n.226C>G
c.947C>G (p.Ser316Cys)
3g.184372920G>TCA355462030EIF2B5,THPOc.1075C>A (p.Leu359Met)
c.655C>A (p.Leu219Met)
c.638C>A (p.Ser213Tyr)
c.539C>A (p.Ser180Tyr)
c.2106+228213G>T (n.2106+228213G>T)
c.643C>A (p.Leu215Met)
n.226C>A
c.947C>A (p.Ser316Tyr)
3g.184372921A>CCA355462032EIF2B5,THPOc.1074T>G (p.Leu358=)
c.654T>G (p.Leu218=)
c.637T>G (p.Ser213Ala)
c.538T>G (p.Ser180Ala)
c.2106+228214A>C (n.2106+228214A>C)
c.642T>G (p.Leu214=)
n.225T>G
c.946T>G (p.Ser316Ala)
3g.184372921A>GCA355462033EIF2B5,THPOc.1074T>C (p.Leu358=)
c.654T>C (p.Leu218=)
c.637T>C (p.Ser213Pro)
c.538T>C (p.Ser180Pro)
c.2106+228214A>G (n.2106+228214A>G)
c.642T>C (p.Leu214=)
n.225T>C
c.946T>C (p.Ser316Pro)
3g.184372921A>TCA355462031EIF2B5,THPOc.1074T>A (p.Leu358=)
c.654T>A (p.Leu218=)
c.637T>A (p.Ser213Thr)
c.538T>A (p.Ser180Thr)
c.2106+228214A>T (n.2106+228214A>T)
c.642T>A (p.Leu214=)
n.225T>A
c.946T>A (p.Ser316Thr)
3g.184372922delCA2668833320EIF2B5,THPOc.1074del (p.Leu359Ter)
c.654del (p.Leu219Ter)
c.637del (p.Ser213LeufsTer?)
c.538del (p.Ser180LeufsTer?)
c.2106+228215del (n.2106+228215del)
c.642del (p.Leu215Ter)
n.225del
c.946del (p.Ser316LeufsTer?)
 gnomAD v4
3g.184372922A=CA1425997875EIF2B5,THPOc.1073T= (p.Leu358=)
c.653T= (p.Leu218=)
c.636T= (p.Ala212=)
c.537T= (p.Ala179=)
c.2106+228215A= (n.2106+228215A=)
c.641T= (p.Leu214=)
n.224T=
c.945T= (p.Ala315=)
3g.184372922A>CCA355462034EIF2B5,THPOc.1073T>G (p.Leu358Arg)
c.653T>G (p.Leu218Arg)
c.636T>G (p.Ala212=)
c.537T>G (p.Ala179=)
c.2106+228215A>C (n.2106+228215A>C)
c.641T>G (p.Leu214Arg)
n.224T>G
c.945T>G (p.Ala315=)
 dbSNP
3g.184372922A>GCA355462035EIF2B5,THPOc.1073T>C (p.Leu358Pro)
c.653T>C (p.Leu218Pro)
c.636T>C (p.Ala212=)
c.537T>C (p.Ala179=)
c.2106+228215A>G (n.2106+228215A>G)
c.641T>C (p.Leu214Pro)
n.224T>C
c.945T>C (p.Ala315=)
3g.184372922A>TCA355462036EIF2B5,THPOc.1073T>A (p.Leu358His)
c.653T>A (p.Leu218His)
c.636T>A (p.Ala212=)
c.537T>A (p.Ala179=)
c.2106+228215A>T (n.2106+228215A>T)
c.641T>A (p.Leu214His)
n.224T>A
c.945T>A (p.Ala315=)
3g.184372923G>ACA355462037EIF2B5,THPOc.1072C>T (p.Leu358Phe)
c.652C>T (p.Leu218Phe)
c.635C>T (p.Ala212Val)
c.536C>T (p.Ala179Val)
c.2106+228216G>A (n.2106+228216G>A)
c.640C>T (p.Leu214Phe)
n.223C>T
c.944C>T (p.Ala315Val)
3g.184372923G>CCA355462038EIF2B5,THPOc.1072C>G (p.Leu358Val)
c.652C>G (p.Leu218Val)
c.635C>G (p.Ala212Gly)
c.536C>G (p.Ala179Gly)
c.2106+228216G>C (n.2106+228216G>C)
c.640C>G (p.Leu214Val)
n.223C>G
c.944C>G (p.Ala315Gly)
3g.184372923G>TCA355462039EIF2B5,THPOc.1072C>A (p.Leu358Ile)
c.652C>A (p.Leu218Ile)
c.635C>A (p.Ala212Asp)
c.536C>A (p.Ala179Asp)
c.2106+228216G>T (n.2106+228216G>T)
c.640C>A (p.Leu214Ile)
n.223C>A
c.944C>A (p.Ala315Asp)
3g.184372924C>ACA355462042EIF2B5,THPOc.1071G>T (p.Gly357=)
c.651G>T (p.Gly217=)
c.634G>T (p.Ala212Ser)
c.535G>T (p.Ala179Ser)
c.2106+228217C>A (n.2106+228217C>A)
c.639G>T (p.Gly213=)
n.222G>T
c.943G>T (p.Ala315Ser)
3g.184372924C>GCA355462040EIF2B5,THPOc.1071G>C (p.Gly357=)
c.651G>C (p.Gly217=)
c.634G>C (p.Ala212Pro)
c.535G>C (p.Ala179Pro)
c.2106+228217C>G (n.2106+228217C>G)
c.639G>C (p.Gly213=)
n.222G>C
c.943G>C (p.Ala315Pro)
3g.184372924C>TCA355462041EIF2B5,THPOc.1071G>A (p.Gly357=)
c.651G>A (p.Gly217=)
c.634G>A (p.Ala212Thr)
c.535G>A (p.Ala179Thr)
c.2106+228217C>T (n.2106+228217C>T)
c.639G>A (p.Gly213=)
n.222G>A
c.943G>A (p.Ala315Thr)
3g.184372925C>ACA355462043EIF2B5,THPOc.1070G>T (p.Gly357Val)
c.650G>T (p.Gly217Val)
c.633G>T (p.Trp211Cys)
c.534G>T (p.Trp178Cys)
c.2106+228218C>A (n.2106+228218C>A)
c.638G>T (p.Gly213Val)
n.221G>T
c.942G>T (p.Trp314Cys)
3g.184372925C>GCA355462044EIF2B5,THPOc.1070G>C (p.Gly357Ala)
c.650G>C (p.Gly217Ala)
c.633G>C (p.Trp211Cys)
c.534G>C (p.Trp178Cys)
c.2106+228218C>G (n.2106+228218C>G)
c.638G>C (p.Gly213Ala)
n.221G>C
c.942G>C (p.Trp314Cys)
3g.184372925C>TCA355462045EIF2B5,THPOc.1070G>A (p.Gly357Glu)
c.650G>A (p.Gly217Glu)
c.633G>A (p.Trp211Ter)
c.534G>A (p.Trp178Ter)
c.2106+228218C>T (n.2106+228218C>T)
c.638G>A (p.Gly213Glu)
n.221G>A
c.942G>A (p.Trp314Ter)
3g.184372926C>ACA355462046EIF2B5,THPOc.1069G>T (p.Gly357Trp)
c.649G>T (p.Gly217Trp)
c.632G>T (p.Trp211Leu)
c.533G>T (p.Trp178Leu)
c.2106+228219C>A (n.2106+228219C>A)
c.637G>T (p.Gly213Trp)
n.220G>T
c.941G>T (p.Trp314Leu)
3g.184372926C=CA1425997876EIF2B5,THPOc.1069G= (p.Gly357=)
c.649G= (p.Gly217=)
c.632G= (p.Trp211=)
c.533G= (p.Trp178=)
c.2106+228219C= (n.2106+228219C=)
c.637G= (p.Gly213=)
n.220G=
c.941G= (p.Trp314=)
3g.184372926C>GCA355462047EIF2B5,THPOc.1069G>C (p.Gly357Arg)
c.649G>C (p.Gly217Arg)
c.632G>C (p.Trp211Ser)
c.533G>C (p.Trp178Ser)
c.2106+228219C>G (n.2106+228219C>G)
c.637G>C (p.Gly213Arg)
n.220G>C
c.941G>C (p.Trp314Ser)
3g.184372926C>TCA2734898EIF2B5,THPOc.1069G>A (p.Gly357Arg)
c.649G>A (p.Gly217Arg)
c.632G>A (p.Trp211Ter)
c.533G>A (p.Trp178Ter)
c.2106+228219C>T (n.2106+228219C>T)
c.637G>A (p.Gly213Arg)
n.220G>A
c.941G>A (p.Trp314Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372926_184372928delinsCAGCA1425997877EIF2B5,THPOc.1067_1069delinsCTG (p.Ser356=)
c.647_649delinsCTG (p.Ser216=)
c.630_632delinsCTG (p.Leu210=)
c.531_533delinsCTG (p.Leu177=)
c.2106+228219_2106+228221delinsCAG (n.2106+228219_2106+228221delinsCAG)
c.635_637delinsCTG (p.Ser212=)
n.218_220delinsCTG
c.939_941delinsCTG (p.Leu313=)
3g.184372927A=CA1425997878EIF2B5,THPOc.1068T= (p.Ser356=)
c.648T= (p.Ser216=)
c.631T= (p.Trp211=)
c.532T= (p.Trp178=)
c.2106+228220A= (n.2106+228220A=)
c.636T= (p.Ser212=)
n.219T=
c.940T= (p.Trp314=)
3g.184372927A>CCA355462048EIF2B5,THPOc.1068T>G (p.Ser356=)
c.648T>G (p.Ser216=)
c.631T>G (p.Trp211Gly)
c.532T>G (p.Trp178Gly)
c.2106+228220A>C (n.2106+228220A>C)
c.636T>G (p.Ser212=)
n.219T>G
c.940T>G (p.Trp314Gly)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.184372927A>GCA355462050EIF2B5,THPOc.1068T>C (p.Ser356=)
c.648T>C (p.Ser216=)
c.631T>C (p.Trp211Arg)
c.532T>C (p.Trp178Arg)
c.2106+228220A>G (n.2106+228220A>G)
c.636T>C (p.Ser212=)
n.219T>C
c.940T>C (p.Trp314Arg)
3g.184372927A>TCA355462049EIF2B5,THPOc.1068T>A (p.Ser356=)
c.648T>A (p.Ser216=)
c.631T>A (p.Trp211Arg)
c.532T>A (p.Trp178Arg)
c.2106+228220A>T (n.2106+228220A>T)
c.636T>A (p.Ser212=)
n.219T>A
c.940T>A (p.Trp314Arg)
3g.184372929_184372930delCA548795852EIF2B5,THPOc.1067_1068del (p.Ser356TrpfsTer?)
c.647_648del (p.Ser216TrpfsTer?)
c.630_631del (p.Trp211GlyfsTer3)
c.531_532del (p.Trp178GlyfsTer3)
c.2106+228222_2106+228223del (n.2106+228222_2106+228223del)
c.635_636del (p.Ser212TrpfsTer?)
n.218_219del
c.939_940del (p.Trp314GlyfsTer3)
 dbSNP gnomAD v2 gnomAD v4
3g.184372928G>ACA355462051EIF2B5,THPOc.1067C>T (p.Ser356Phe)
c.647C>T (p.Ser216Phe)
c.630C>T (p.Leu210=)
c.531C>T (p.Leu177=)
c.2106+228221G>A (n.2106+228221G>A)
c.635C>T (p.Ser212Phe)
n.218C>T
c.939C>T (p.Leu313=)
3g.184372928G>CCA355462052EIF2B5,THPOc.1067C>G (p.Ser356Cys)
c.647C>G (p.Ser216Cys)
c.630C>G (p.Leu210=)
c.531C>G (p.Leu177=)
c.2106+228221G>C (n.2106+228221G>C)
c.635C>G (p.Ser212Cys)
n.218C>G
c.939C>G (p.Leu313=)
3g.184372928G>TCA355462053EIF2B5,THPOc.1067C>A (p.Ser356Tyr)
c.647C>A (p.Ser216Tyr)
c.630C>A (p.Leu210=)
c.531C>A (p.Leu177=)
c.2106+228221G>T (n.2106+228221G>T)
c.635C>A (p.Ser212Tyr)
n.218C>A
c.939C>A (p.Leu313=)
3g.184372929A>CCA355462054EIF2B5,THPOc.1066T>G (p.Ser356Ala)
c.646T>G (p.Ser216Ala)
c.629T>G (p.Leu210Arg)
c.530T>G (p.Leu177Arg)
c.2106+228222A>C (n.2106+228222A>C)
c.634T>G (p.Ser212Ala)
n.217T>G
c.938T>G (p.Leu313Arg)
3g.184372929A>GCA355462055EIF2B5,THPOc.1066T>C (p.Ser356Pro)
c.646T>C (p.Ser216Pro)
c.629T>C (p.Leu210Pro)
c.530T>C (p.Leu177Pro)
c.2106+228222A>G (n.2106+228222A>G)
c.634T>C (p.Ser212Pro)
n.217T>C
c.938T>C (p.Leu313Pro)
3g.184372929A>TCA355462056EIF2B5,THPOc.1066T>A (p.Ser356Thr)
c.646T>A (p.Ser216Thr)
c.629T>A (p.Leu210His)
c.530T>A (p.Leu177His)
c.2106+228222A>T (n.2106+228222A>T)
c.634T>A (p.Ser212Thr)
n.217T>A
c.938T>A (p.Leu313His)
 gnomAD v4
3g.184372930G>ACA355462057EIF2B5,THPOc.1065C>T (p.Gly355=)
c.645C>T (p.Gly215=)
c.628C>T (p.Leu210Phe)
c.529C>T (p.Leu177Phe)
c.2106+228223G>A (n.2106+228223G>A)
c.633C>T (p.Gly211=)
n.216C>T
c.937C>T (p.Leu313Phe)
3g.184372930G>CCA355462058EIF2B5,THPOc.1065C>G (p.Gly355=)
c.645C>G (p.Gly215=)
c.628C>G (p.Leu210Val)
c.529C>G (p.Leu177Val)
c.2106+228223G>C (n.2106+228223G>C)
c.633C>G (p.Gly211=)
n.216C>G
c.937C>G (p.Leu313Val)
3g.184372930G>TCA355462059EIF2B5,THPOc.1065C>A (p.Gly355=)
c.645C>A (p.Gly215=)
c.628C>A (p.Leu210Ile)
c.529C>A (p.Leu177Ile)
c.2106+228223G>T (n.2106+228223G>T)
c.633C>A (p.Gly211=)
n.216C>A
c.937C>A (p.Leu313Ile)
3g.184372931C>ACA355462060EIF2B5,THPOc.1064G>T (p.Gly355Val)
c.644G>T (p.Gly215Val)
c.627G>T (p.Trp209Cys)
c.528G>T (p.Trp176Cys)
c.2106+228224C>A (n.2106+228224C>A)
c.632G>T (p.Gly211Val)
n.215G>T
c.936G>T (p.Trp312Cys)
3g.184372931C>GCA355462061EIF2B5,THPOc.1064G>C (p.Gly355Ala)
c.644G>C (p.Gly215Ala)
c.627G>C (p.Trp209Cys)
c.528G>C (p.Trp176Cys)
c.2106+228224C>G (n.2106+228224C>G)
c.632G>C (p.Gly211Ala)
n.215G>C
c.936G>C (p.Trp312Cys)
3g.184372931C>TCA355462062EIF2B5,THPOc.1064G>A (p.Gly355Asp)
c.644G>A (p.Gly215Asp)
c.627G>A (p.Trp209Ter)
c.528G>A (p.Trp176Ter)
c.2106+228224C>T (n.2106+228224C>T)
c.632G>A (p.Gly211Asp)
n.215G>A
c.936G>A (p.Trp312Ter)
3g.184372931_184372941delinsCCAGTAGTTCTCA1425997879EIF2B5,THPOc.1054_1064delinsAGAACTACTGG (p.Arg352=)
c.634_644delinsAGAACTACTGG (p.Arg212=)
c.617_627delinsAGAACTACTGG (p.Gln206=)
c.518_528delinsAGAACTACTGG (p.Gln173=)
c.2106+228224_2106+228234delinsCCAGTAGTTCT (n.2106+228224_2106+228234delinsCCAGTAGTTCT)
c.622_632delinsAGAACTACTGG (p.Arg208=)
n.205_215delinsAGAACTACTGG
c.926_936delinsAGAACTACTGG (p.Gln309=)
3g.184372932C>ACA355462063EIF2B5,THPOc.1063G>T (p.Gly355Cys)
c.643G>T (p.Gly215Cys)
c.626G>T (p.Trp209Leu)
c.527G>T (p.Trp176Leu)
c.2106+228225C>A (n.2106+228225C>A)
c.631G>T (p.Gly211Cys)
n.214G>T
c.935G>T (p.Trp312Leu)
3g.184372932C>GCA355462065EIF2B5,THPOc.1063G>C (p.Gly355Arg)
c.643G>C (p.Gly215Arg)
c.626G>C (p.Trp209Ser)
c.527G>C (p.Trp176Ser)
c.2106+228225C>G (n.2106+228225C>G)
c.631G>C (p.Gly211Arg)
n.214G>C
c.935G>C (p.Trp312Ser)
3g.184372932C>TCA355462064EIF2B5,THPOc.1063G>A (p.Gly355Ser)
c.643G>A (p.Gly215Ser)
c.626G>A (p.Trp209Ter)
c.527G>A (p.Trp176Ter)
c.2106+228225C>T (n.2106+228225C>T)
c.631G>A (p.Gly211Ser)
n.214G>A
c.935G>A (p.Trp312Ter)
 gnomAD v4
3g.184372932_184372941delCA548795853EIF2B5,THPOc.1054_1063del (p.Arg352AlafsTer5)
c.634_643del (p.Arg212AlafsTer5)
c.617_626del (p.Gln206ArgfsTer?)
c.518_527del (p.Gln173ArgfsTer?)
c.2106+228225_2106+228234del (n.2106+228225_2106+228234del)
c.622_631del (p.Arg208AlafsTer5)
n.205_214del
c.926_935del (p.Gln309ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
3g.184372933A=CA1425997880EIF2B5,THPOc.1062T= (p.Thr354=)
c.642T= (p.Thr214=)
c.625T= (p.Trp209=)
c.526T= (p.Trp176=)
c.2106+228226A= (n.2106+228226A=)
c.630T= (p.Thr210=)
n.213T=
c.934T= (p.Trp312=)
3g.184372933A>CCA355462066EIF2B5,THPOc.1062T>G (p.Thr354=)
c.642T>G (p.Thr214=)
c.625T>G (p.Trp209Gly)
c.526T>G (p.Trp176Gly)
c.2106+228226A>C (n.2106+228226A>C)
c.630T>G (p.Thr210=)
n.213T>G
c.934T>G (p.Trp312Gly)
3g.184372933A>GCA355462067EIF2B5,THPOc.1062T>C (p.Thr354=)
c.642T>C (p.Thr214=)
c.625T>C (p.Trp209Arg)
c.526T>C (p.Trp176Arg)
c.2106+228226A>G (n.2106+228226A>G)
c.630T>C (p.Thr210=)
n.213T>C
c.934T>C (p.Trp312Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.184372933A>TCA355462068EIF2B5,THPOc.1062T>A (p.Thr354=)
c.642T>A (p.Thr214=)
c.625T>A (p.Trp209Arg)
c.526T>A (p.Trp176Arg)
c.2106+228226A>T (n.2106+228226A>T)
c.630T>A (p.Thr210=)
n.213T>A
c.934T>A (p.Trp312Arg)
3g.184372934G>ACA355462069EIF2B5,THPOc.1061C>T (p.Thr354Ile)
c.641C>T (p.Thr214Ile)
c.624C>T (p.Tyr208=)
c.525C>T (p.Tyr175=)
c.2106+228227G>A (n.2106+228227G>A)
c.629C>T (p.Thr210Ile)
n.212C>T
c.933C>T (p.Tyr311=)
3g.184372934G>CCA355462070EIF2B5,THPOc.1061C>G (p.Thr354Ser)
c.641C>G (p.Thr214Ser)
c.624C>G (p.Tyr208Ter)
c.525C>G (p.Tyr175Ter)
c.2106+228227G>C (n.2106+228227G>C)
c.629C>G (p.Thr210Ser)
n.212C>G
c.933C>G (p.Tyr311Ter)
3g.184372934G=CA1425997881EIF2B5,THPOc.1061C= (p.Thr354=)
c.641C= (p.Thr214=)
c.624C= (p.Tyr208=)
c.525C= (p.Tyr175=)
c.2106+228227G= (n.2106+228227G=)
c.629C= (p.Thr210=)
n.212C=
c.933C= (p.Tyr311=)
3g.184372934G>TCA2734899EIF2B5,THPOc.1061C>A (p.Thr354Asn)
c.641C>A (p.Thr214Asn)
c.624C>A (p.Tyr208Ter)
c.525C>A (p.Tyr175Ter)
c.2106+228227G>T (n.2106+228227G>T)
c.629C>A (p.Thr210Asn)
n.212C>A
c.933C>A (p.Tyr311Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372935T>ACA355462071EIF2B5,THPOc.1060A>T (p.Thr354Ser)
c.640A>T (p.Thr214Ser)
c.623A>T (p.Tyr208Phe)
c.524A>T (p.Tyr175Phe)
c.2106+228228T>A (n.2106+228228T>A)
c.628A>T (p.Thr210Ser)
n.211A>T
c.932A>T (p.Tyr311Phe)
3g.184372935T>CCA355462072EIF2B5,THPOc.1060A>G (p.Thr354Ala)
c.640A>G (p.Thr214Ala)
c.623A>G (p.Tyr208Cys)
c.524A>G (p.Tyr175Cys)
c.2106+228228T>C (n.2106+228228T>C)
c.628A>G (p.Thr210Ala)
n.211A>G
c.932A>G (p.Tyr311Cys)
 gnomAD v4 COSMIC
3g.184372935T>GCA355462073EIF2B5,THPOc.1060A>C (p.Thr354Pro)
c.640A>C (p.Thr214Pro)
c.623A>C (p.Tyr208Ser)
c.524A>C (p.Tyr175Ser)
c.2106+228228T>G (n.2106+228228T>G)
c.628A>C (p.Thr210Pro)
n.211A>C
c.932A>C (p.Tyr311Ser)
3g.184372936A=CA1425997882EIF2B5,THPOc.1059T= (p.Thr353=)
c.639T= (p.Thr213=)
c.622T= (p.Tyr208=)
c.523T= (p.Tyr175=)
c.2106+228229A= (n.2106+228229A=)
c.627T= (p.Thr209=)
n.210T=
c.931T= (p.Tyr311=)
3g.184372936A>CCA355462074EIF2B5,THPOc.1059T>G (p.Thr353=)
c.639T>G (p.Thr213=)
c.622T>G (p.Tyr208Asp)
c.523T>G (p.Tyr175Asp)
c.2106+228229A>C (n.2106+228229A>C)
c.627T>G (p.Thr209=)
n.210T>G
c.931T>G (p.Tyr311Asp)
3g.184372936A>GCA355462075EIF2B5,THPOc.1059T>C (p.Thr353=)
c.639T>C (p.Thr213=)
c.622T>C (p.Tyr208His)
c.523T>C (p.Tyr175His)
c.2106+228229A>G (n.2106+228229A>G)
c.627T>C (p.Thr209=)
n.210T>C
c.931T>C (p.Tyr311His)
3g.184372936A>TCA2734900EIF2B5,THPOc.1059T>A (p.Thr353=)
c.639T>A (p.Thr213=)
c.622T>A (p.Tyr208Asn)
c.523T>A (p.Tyr175Asn)
c.2106+228229A>T (n.2106+228229A>T)
c.627T>A (p.Thr209=)
n.210T>A
c.931T>A (p.Tyr311Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched