Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.88590475G>ACA347595415EIF2AK3n.2324C>T
n.588C>T
c.680C>T (p.Ala227Val)
n.772C>T
c.346C>T
c.530C>T (p.Ala177Val)
c.1133C>T (p.Ala378Val)
c.1327C>T
n.1009C>T
c.770C>T (p.Ala257Val)
c.449C>T (p.Ala150Val)
n.1342C>T
2g.88590475G>CCA347595414EIF2AK3n.2324C>G
n.588C>G
c.680C>G (p.Ala227Gly)
n.772C>G
c.346C>G
c.530C>G (p.Ala177Gly)
c.1133C>G (p.Ala378Gly)
c.1327C>G
n.1009C>G
c.770C>G (p.Ala257Gly)
c.449C>G (p.Ala150Gly)
n.1342C>G
2g.88590475G>TCA347595413EIF2AK3n.2324C>A
n.588C>A
c.680C>A (p.Ala227Asp)
n.772C>A
c.346C>A
c.530C>A (p.Ala177Asp)
c.1133C>A (p.Ala378Asp)
c.1327C>A
n.1009C>A
c.770C>A (p.Ala257Asp)
c.449C>A (p.Ala150Asp)
n.1342C>A
2g.88590476C>ACA1754765EIF2AK3n.2323G>T
n.587G>T
c.679G>T (p.Ala227Ser)
n.771G>T
c.345G>T
c.529G>T (p.Ala177Ser)
c.1132G>T (p.Ala378Ser)
c.1326G>T
n.1008G>T
c.769G>T (p.Ala257Ser)
c.448G>T (p.Ala150Ser)
n.1341G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.88590476C=CA1268214654EIF2AK3n.2323G=
n.587G=
c.679G= (p.Ala227=)
n.771G=
c.345G=
c.529G= (p.Ala177=)
c.1132G= (p.Ala378=)
c.1326G=
n.1008G=
c.769G= (p.Ala257=)
c.448G= (p.Ala150=)
n.1341G=
2g.88590476C>GCA347595416EIF2AK3n.2323G>C
n.587G>C
c.679G>C (p.Ala227Pro)
n.771G>C
c.345G>C
c.529G>C (p.Ala177Pro)
c.1132G>C (p.Ala378Pro)
c.1326G>C
n.1008G>C
c.769G>C (p.Ala257Pro)
c.448G>C (p.Ala150Pro)
n.1341G>C
2g.88590476C>TCA347595417EIF2AK3n.2323G>A
n.587G>A
c.679G>A (p.Ala227Thr)
n.771G>A
c.345G>A
c.529G>A (p.Ala177Thr)
c.1132G>A (p.Ala378Thr)
c.1326G>A
n.1008G>A
c.769G>A (p.Ala257Thr)
c.448G>A (p.Ala150Thr)
n.1341G>A
2g.88590477A>CCA427174257EIF2AK3n.2322T>G
n.586T>G
c.678T>G (p.Ala226=)
n.770T>G
c.344T>G
c.528T>G (p.Ala176=)
c.1131T>G (p.Ala377=)
c.1325T>G
n.1007T>G
c.768T>G (p.Ala256=)
c.447T>G (p.Ala149=)
n.1340T>G
2g.88590477A>GCA427174258EIF2AK3n.2322T>C
n.586T>C
c.678T>C (p.Ala226=)
n.770T>C
c.344T>C
c.528T>C (p.Ala176=)
c.1131T>C (p.Ala377=)
c.1325T>C
n.1007T>C
c.768T>C (p.Ala256=)
c.447T>C (p.Ala149=)
n.1340T>C
2g.88590477A>TCA427174259EIF2AK3n.2322T>A
n.586T>A
c.678T>A (p.Ala226=)
n.770T>A
c.344T>A
c.528T>A (p.Ala176=)
c.1131T>A (p.Ala377=)
c.1325T>A
n.1007T>A
c.768T>A (p.Ala256=)
c.447T>A (p.Ala149=)
n.1340T>A
2g.88590478G>ACA347595418EIF2AK3n.2321C>T
n.585C>T
c.677C>T (p.Ala226Val)
n.769C>T
c.343C>T
c.527C>T (p.Ala176Val)
c.1130C>T (p.Ala377Val)
c.1324C>T
n.1006C>T
c.767C>T (p.Ala256Val)
c.446C>T (p.Ala149Val)
n.1339C>T
2g.88590478G>CCA347595419EIF2AK3n.2321C>G
n.585C>G
c.677C>G (p.Ala226Gly)
n.769C>G
c.343C>G
c.527C>G (p.Ala176Gly)
c.1130C>G (p.Ala377Gly)
c.1324C>G
n.1006C>G
c.767C>G (p.Ala256Gly)
c.446C>G (p.Ala149Gly)
n.1339C>G
2g.88590478G>TCA347595420EIF2AK3n.2321C>A
n.585C>A
c.677C>A (p.Ala226Asp)
n.769C>A
c.343C>A
c.527C>A (p.Ala176Asp)
c.1130C>A (p.Ala377Asp)
c.1324C>A
n.1006C>A
c.767C>A (p.Ala256Asp)
c.446C>A (p.Ala149Asp)
n.1339C>A
2g.88590479C>ACA347595421EIF2AK3n.2320G>T
n.584G>T
c.676G>T (p.Ala226Ser)
n.768G>T
c.342G>T
c.526G>T (p.Ala176Ser)
c.1129G>T (p.Ala377Ser)
c.1323G>T
n.1005G>T
c.766G>T (p.Ala256Ser)
c.445G>T (p.Ala149Ser)
n.1338G>T
2g.88590479C=CA1268214655EIF2AK3n.2320G=
n.584G=
c.676G= (p.Ala226=)
n.768G=
c.342G=
c.526G= (p.Ala176=)
c.1129G= (p.Ala377=)
c.1323G=
n.1005G=
c.766G= (p.Ala256=)
c.445G= (p.Ala149=)
n.1338G=
2g.88590479C>GCA347595423EIF2AK3n.2320G>C
n.584G>C
c.676G>C (p.Ala226Pro)
n.768G>C
c.342G>C
c.526G>C (p.Ala176Pro)
c.1129G>C (p.Ala377Pro)
c.1323G>C
n.1005G>C
c.766G>C (p.Ala256Pro)
c.445G>C (p.Ala149Pro)
n.1338G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.88590479C>TCA347595422EIF2AK3n.2320G>A
n.584G>A
c.676G>A (p.Ala226Thr)
n.768G>A
c.342G>A
c.526G>A (p.Ala176Thr)
c.1129G>A (p.Ala377Thr)
c.1323G>A
n.1005G>A
c.766G>A (p.Ala256Thr)
c.445G>A (p.Ala149Thr)
n.1338G>A
 dbSNP gnomAD v2
2g.88590480T>ACA347595424EIF2AK3n.2319A>T
n.583A>T
c.675A>T (p.Glu225Asp)
n.767A>T
c.341A>T
c.525A>T (p.Glu175Asp)
c.1128A>T (p.Glu376Asp)
c.1322A>T
n.1004A>T
c.765A>T (p.Glu255Asp)
c.444A>T (p.Glu148Asp)
n.1337A>T
2g.88590480T>CCA427174260EIF2AK3n.2319A>G
n.583A>G
c.675A>G (p.Glu225=)
n.767A>G
c.341A>G
c.525A>G (p.Glu175=)
c.1128A>G (p.Glu376=)
c.1322A>G
n.1004A>G
c.765A>G (p.Glu255=)
c.444A>G (p.Glu148=)
n.1337A>G
2g.88590480T>GCA347595425EIF2AK3n.2319A>C
n.583A>C
c.675A>C (p.Glu225Asp)
n.767A>C
c.341A>C
c.525A>C (p.Glu175Asp)
c.1128A>C (p.Glu376Asp)
c.1322A>C
n.1004A>C
c.765A>C (p.Glu255Asp)
c.444A>C (p.Glu148Asp)
n.1337A>C
2g.88590480_88590481insGGGCATTCCCGAGACGCTGCCGAAGGCGCAGCGCATGCCGCTGCAGCTGGGCCGCATCATCGGCAACTATGGCAAGGTGCTGTGCCACCGCGTGTTCATCCTGCGCGCGCTGAGCATCGCCATGACA2539114979EIF2AK3n.2318_2319insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCATAGTTGCCGATGATGCGGCCCAGCTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC
n.582_583insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCATAGTTGCCGATGATGCGGCCCAGCTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC
c.674_675insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCATAGTTGCCGATGATGCGGCCCAGCTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC (p.Glu225AspfsTer?)
n.766_767insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCATAGTTGCCGATGATGCGGCCCAGCTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC
c.340_341insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCATAGTTGCCGATGATGCGGCCCAGCTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC
c.524_525insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCATAGTTGCCGATGATGCGGCCCAGCTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC (p.Glu175AspfsTer?)
c.1127_1128insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCATAGTTGCCGATGATGCGGCCCAGCTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC (p.Glu376AspfsTer?)
c.1321_1322insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCATAGTTGCCGATGATGCGGCCCAGCTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC
n.1003_1004insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCATAGTTGCCGATGATGCGGCCCAGCTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC
c.764_765insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCATAGTTGCCGATGATGCGGCCCAGCTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC (p.Glu255AspfsTer?)
c.443_444insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCATAGTTGCCGATGATGCGGCCCAGCTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC (p.Glu148AspfsTer?)
n.1336_1337insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCATAGTTGCCGATGATGCGGCCCAGCTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC
2g.88590480_88590481insGGGCATTCCCGAGACGCTGCCGAAGGCGCAGCGCATGCCGCTGCAACTGGGCCGCATCGTCGGCAACTACGGCAAGGTGCTGTGCCACCGCGTGTTCATCCTGCGCGCGCTGAGCATCGCCATGACA2517149584EIF2AK3n.2318_2319insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCGTAGTTGCCGACGATGCGGCCCAGTTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC
n.582_583insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCGTAGTTGCCGACGATGCGGCCCAGTTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC
c.674_675insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCGTAGTTGCCGACGATGCGGCCCAGTTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC (p.Glu225AspfsTer?)
n.766_767insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCGTAGTTGCCGACGATGCGGCCCAGTTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC
c.340_341insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCGTAGTTGCCGACGATGCGGCCCAGTTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC
c.524_525insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCGTAGTTGCCGACGATGCGGCCCAGTTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC (p.Glu175AspfsTer?)
c.1127_1128insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCGTAGTTGCCGACGATGCGGCCCAGTTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC (p.Glu376AspfsTer?)
c.1321_1322insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCGTAGTTGCCGACGATGCGGCCCAGTTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC
n.1003_1004insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCGTAGTTGCCGACGATGCGGCCCAGTTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC
c.764_765insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCGTAGTTGCCGACGATGCGGCCCAGTTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC (p.Glu255AspfsTer?)
c.443_444insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCGTAGTTGCCGACGATGCGGCCCAGTTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC (p.Glu148AspfsTer?)
n.1336_1337insTCATGGCGATGCTCAGCGCGCGCAGGATGAACACGCGGTGGCACAGCACCTTGCCGTAGTTGCCGACGATGCGGCCCAGTTGCAGCGGCATGCGCTGCGCCTTCGGCAGCGTCTCGGGAATGCCC
2g.88590481T>ACA347595426EIF2AK3n.2318A>T
n.582A>T
c.674A>T (p.Glu225Val)
n.766A>T
c.340A>T
c.524A>T (p.Glu175Val)
c.1127A>T (p.Glu376Val)
c.1321A>T
n.1003A>T
c.764A>T (p.Glu255Val)
c.443A>T (p.Glu148Val)
n.1336A>T
2g.88590481T>CCA347595427EIF2AK3n.2318A>G
n.582A>G
c.674A>G (p.Glu225Gly)
n.766A>G
c.340A>G
c.524A>G (p.Glu175Gly)
c.1127A>G (p.Glu376Gly)
c.1321A>G
n.1003A>G
c.764A>G (p.Glu255Gly)
c.443A>G (p.Glu148Gly)
n.1336A>G
2g.88590481T>GCA51496270EIF2AK3n.2318A>C
n.582A>C
c.674A>C (p.Glu225Ala)
n.766A>C
c.340A>C
c.524A>C (p.Glu175Ala)
c.1127A>C (p.Glu376Ala)
c.1321A>C
n.1003A>C
c.764A>C (p.Glu255Ala)
c.443A>C (p.Glu148Ala)
n.1336A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.88590481T=CA1268214656EIF2AK3n.2318A=
n.582A=
c.674A= (p.Glu225=)
n.766A=
c.340A=
c.524A= (p.Glu175=)
c.1127A= (p.Glu376=)
c.1321A=
n.1003A=
c.764A= (p.Glu255=)
c.443A= (p.Glu148=)
n.1336A=
2g.88590482C>ACA347595428EIF2AK3n.2317G>T
n.581G>T
c.673G>T (p.Glu225Ter)
n.765G>T
c.339G>T
c.523G>T (p.Glu175Ter)
c.1126G>T (p.Glu376Ter)
c.1320G>T
n.1002G>T
c.763G>T (p.Glu255Ter)
c.442G>T (p.Glu148Ter)
n.1335G>T
2g.88590482C>GCA347595429EIF2AK3n.2317G>C
n.581G>C
c.673G>C (p.Glu225Gln)
n.765G>C
c.339G>C
c.523G>C (p.Glu175Gln)
c.1126G>C (p.Glu376Gln)
c.1320G>C
n.1002G>C
c.763G>C (p.Glu255Gln)
c.442G>C (p.Glu148Gln)
n.1335G>C
2g.88590482C>TCA347595430EIF2AK3n.2317G>A
n.581G>A
c.673G>A (p.Glu225Lys)
n.765G>A
c.339G>A
c.523G>A (p.Glu175Lys)
c.1126G>A (p.Glu376Lys)
c.1320G>A
n.1002G>A
c.763G>A (p.Glu255Lys)
c.442G>A (p.Glu148Lys)
n.1335G>A
2g.88590483T>ACA427174261EIF2AK3n.2316A>T
n.580A>T
c.672A>T (p.Val224=)
n.764A>T
c.338A>T
c.522A>T (p.Val174=)
c.1125A>T (p.Val375=)
c.1319A>T
n.1001A>T
c.762A>T (p.Val254=)
c.441A>T (p.Val147=)
n.1334A>T
2g.88590483T>CCA1754766EIF2AK3n.2316A>G
n.580A>G
c.672A>G (p.Val224=)
n.764A>G
c.338A>G
c.522A>G (p.Val174=)
c.1125A>G (p.Val375=)
c.1319A>G
n.1001A>G
c.762A>G (p.Val254=)
c.441A>G (p.Val147=)
n.1334A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.88590483T>GCA427174262EIF2AK3n.2316A>C
n.580A>C
c.672A>C (p.Val224=)
n.764A>C
c.338A>C
c.522A>C (p.Val174=)
c.1125A>C (p.Val375=)
c.1319A>C
n.1001A>C
c.762A>C (p.Val254=)
c.441A>C (p.Val147=)
n.1334A>C
2g.88590483T=CA1268214657EIF2AK3n.2316A=
n.580A=
c.672A= (p.Val224=)
n.764A=
c.338A=
c.522A= (p.Val174=)
c.1125A= (p.Val375=)
c.1319A=
n.1001A=
c.762A= (p.Val254=)
c.441A= (p.Val147=)
n.1334A=
2g.88590484A>CCA347595431EIF2AK3n.2315T>G
n.579T>G
c.671T>G (p.Val224Gly)
n.763T>G
c.337T>G
c.521T>G (p.Val174Gly)
c.1124T>G (p.Val375Gly)
c.1318T>G
n.1000T>G
c.761T>G (p.Val254Gly)
c.440T>G (p.Val147Gly)
n.1333T>G
2g.88590484A>GCA347595432EIF2AK3n.2315T>C
n.579T>C
c.671T>C (p.Val224Ala)
n.763T>C
c.337T>C
c.521T>C (p.Val174Ala)
c.1124T>C (p.Val375Ala)
c.1318T>C
n.1000T>C
c.761T>C (p.Val254Ala)
c.440T>C (p.Val147Ala)
n.1333T>C
2g.88590484A>TCA347595433EIF2AK3n.2315T>A
n.579T>A
c.671T>A (p.Val224Glu)
n.763T>A
c.337T>A
c.521T>A (p.Val174Glu)
c.1124T>A (p.Val375Glu)
c.1318T>A
n.1000T>A
c.761T>A (p.Val254Glu)
c.440T>A (p.Val147Glu)
n.1333T>A
2g.88590485C>ACA347595435EIF2AK3n.2314G>T
n.578G>T
c.670G>T (p.Val224Leu)
n.762G>T
c.336G>T
c.520G>T (p.Val174Leu)
c.1123G>T (p.Val375Leu)
c.1317G>T
n.999G>T
c.760G>T (p.Val254Leu)
c.439G>T (p.Val147Leu)
n.1332G>T
2g.88590485C=CA1268214658EIF2AK3n.2314G=
n.578G=
c.670G= (p.Val224=)
n.762G=
c.336G=
c.520G= (p.Val174=)
c.1123G= (p.Val375=)
c.1317G=
n.999G=
c.760G= (p.Val254=)
c.439G= (p.Val147=)
n.1332G=
2g.88590485C>GCA347595434EIF2AK3n.2314G>C
n.578G>C
c.670G>C (p.Val224Leu)
n.762G>C
c.336G>C
c.520G>C (p.Val174Leu)
c.1123G>C (p.Val375Leu)
c.1317G>C
n.999G>C
c.760G>C (p.Val254Leu)
c.439G>C (p.Val147Leu)
n.1332G>C
2g.88590485C>TCA1754767EIF2AK3n.2314G>A
n.578G>A
c.670G>A (p.Val224Ile)
n.762G>A
c.336G>A
c.520G>A (p.Val174Ile)
c.1123G>A (p.Val375Ile)
c.1317G>A
n.999G>A
c.760G>A (p.Val254Ile)
c.439G>A (p.Val147Ile)
n.1332G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.88590486A>CCA347595436EIF2AK3n.2313T>G
n.577T>G
c.669T>G (p.Ile223Met)
n.761T>G
c.335T>G
c.519T>G (p.Ile173Met)
c.1122T>G (p.Ile374Met)
c.1316T>G
n.998T>G
c.759T>G (p.Ile253Met)
c.438T>G (p.Ile146Met)
n.1331T>G
2g.88590486A>GCA427174263EIF2AK3n.2313T>C
n.577T>C
c.669T>C (p.Ile223=)
n.761T>C
c.335T>C
c.519T>C (p.Ile173=)
c.1122T>C (p.Ile374=)
c.1316T>C
n.998T>C
c.759T>C (p.Ile253=)
c.438T>C (p.Ile146=)
n.1331T>C
2g.88590486A>TCA427174264EIF2AK3n.2313T>A
n.577T>A
c.669T>A (p.Ile223=)
n.761T>A
c.335T>A
c.519T>A (p.Ile173=)
c.1122T>A (p.Ile374=)
c.1316T>A
n.998T>A
c.759T>A (p.Ile253=)
c.438T>A (p.Ile146=)
n.1331T>A
2g.88590487A=CA1268214659EIF2AK3n.2312T=
n.576T=
c.668T= (p.Ile223=)
n.760T=
c.334T=
c.518T= (p.Ile173=)
c.1121T= (p.Ile374=)
c.1315T=
n.997T=
c.758T= (p.Ile253=)
c.437T= (p.Ile146=)
n.1330T=
2g.88590487A>CCA347595437EIF2AK3n.2312T>G
n.576T>G
c.668T>G (p.Ile223Ser)
n.760T>G
c.334T>G
c.518T>G (p.Ile173Ser)
c.1121T>G (p.Ile374Ser)
c.1315T>G
n.997T>G
c.758T>G (p.Ile253Ser)
c.437T>G (p.Ile146Ser)
n.1330T>G
2g.88590487A>GCA1754768EIF2AK3n.2312T>C
n.576T>C
c.668T>C (p.Ile223Thr)
n.760T>C
c.334T>C
c.518T>C (p.Ile173Thr)
c.1121T>C (p.Ile374Thr)
c.1315T>C
n.997T>C
c.758T>C (p.Ile253Thr)
c.437T>C (p.Ile146Thr)
n.1330T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.88590487A>TCA347595438EIF2AK3n.2312T>A
n.576T>A
c.668T>A (p.Ile223Asn)
n.760T>A
c.334T>A
c.518T>A (p.Ile173Asn)
c.1121T>A (p.Ile374Asn)
c.1315T>A
n.997T>A
c.758T>A (p.Ile253Asn)
c.437T>A (p.Ile146Asn)
n.1330T>A
2g.88590488T>ACA347595439EIF2AK3n.2311A>T
n.575A>T
c.667A>T (p.Ile223Phe)
n.759A>T
c.333A>T
c.517A>T (p.Ile173Phe)
c.1120A>T (p.Ile374Phe)
c.1314A>T
n.996A>T
c.757A>T (p.Ile253Phe)
c.436A>T (p.Ile146Phe)
n.1329A>T
2g.88590488T>CCA347595440EIF2AK3n.2311A>G
n.575A>G
c.667A>G (p.Ile223Val)
n.759A>G
c.333A>G
c.517A>G (p.Ile173Val)
c.1120A>G (p.Ile374Val)
c.1314A>G
n.996A>G
c.757A>G (p.Ile253Val)
c.436A>G (p.Ile146Val)
n.1329A>G
2g.88590488T>GCA347595441EIF2AK3n.2311A>C
n.575A>C
c.667A>C (p.Ile223Leu)
n.759A>C
c.333A>C
c.517A>C (p.Ile173Leu)
c.1120A>C (p.Ile374Leu)
c.1314A>C
n.996A>C
c.757A>C (p.Ile253Leu)
c.436A>C (p.Ile146Leu)
n.1329A>C

Number of alleles fetched