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=)

Number of alleles fetched