Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.184375460G>ACA2668835368EIF2B5,THPOc.648+55C>T (n.648+55C>T)
c.228+55C>T (n.228+55C>T)
c.2106+230753G>A (n.2106+230753G>A)
 gnomAD v4
3g.184375461T>ACA2668835371EIF2B5,THPOc.648+54A>T (n.648+54A>T)
c.228+54A>T (n.228+54A>T)
c.2106+230754T>A (n.2106+230754T>A)
 gnomAD v4
3g.184375461T>CCA2668835372EIF2B5,THPOc.648+54A>G (n.648+54A>G)
c.228+54A>G (n.228+54A>G)
c.2106+230754T>C (n.2106+230754T>C)
 gnomAD v4
3g.184375462G>TCA2577979234EIF2B5,THPOc.648+53C>A (n.648+53C>A)
c.228+53C>A (n.228+53C>A)
c.2106+230755G>T (n.2106+230755G>T)
 gnomAD v4
3g.184375463G>TCA2577979235EIF2B5,THPOc.648+52C>A (n.648+52C>A)
c.228+52C>A (n.228+52C>A)
c.2106+230756G>T (n.2106+230756G>T)
3g.184375464G>ACA2735015EIF2B5,THPOc.648+51C>T (n.648+51C>T)
c.228+51C>T (n.228+51C>T)
c.2106+230757G>A (n.2106+230757G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184375464G=CA1425998977EIF2B5,THPOc.648+51C= (n.648+51C=)
c.228+51C= (n.228+51C=)
c.2106+230757G= (n.2106+230757G=)
3g.184375464G>TCA2668835376EIF2B5,THPOc.648+51C>A (n.648+51C>A)
c.228+51C>A (n.228+51C>A)
c.2106+230757G>T (n.2106+230757G>T)
 gnomAD v4
3g.184375466A=CA1425998978EIF2B5,THPOc.648+49T= (n.648+49T=)
c.228+49T= (n.228+49T=)
c.2106+230759A= (n.2106+230759A=)
3g.184375466A>GCA88914446EIF2B5,THPOc.648+49T>C (n.648+49T>C)
c.228+49T>C (n.228+49T>C)
c.2106+230759A>G (n.2106+230759A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.184375468C>ACA2668835385EIF2B5,THPOc.648+47G>T (n.648+47G>T)
c.228+47G>T (n.228+47G>T)
c.2106+230761C>A (n.2106+230761C>A)
 gnomAD v4
3g.184375468C>TCA2668835388EIF2B5,THPOc.648+47G>A (n.648+47G>A)
c.228+47G>A (n.228+47G>A)
c.2106+230761C>T (n.2106+230761C>T)
 gnomAD v4
3g.184375469T>ACA548416597EIF2B5,THPOc.648+46A>T (n.648+46A>T)
c.228+46A>T (n.228+46A>T)
c.2106+230762T>A (n.2106+230762T>A)
 dbSNP gnomAD v2 gnomAD v4
3g.184375469T>CCA2668835404EIF2B5,THPOc.648+46A>G (n.648+46A>G)
c.228+46A>G (n.228+46A>G)
c.2106+230762T>C (n.2106+230762T>C)
 gnomAD v4
3g.184375469T=CA1425998979EIF2B5,THPOc.648+46A= (n.648+46A=)
c.228+46A= (n.228+46A=)
c.2106+230762T= (n.2106+230762T=)
3g.184375471A=CA1425998981EIF2B5,THPOc.648+44T= (n.648+44T=)
c.228+44T= (n.228+44T=)
c.2106+230764A= (n.2106+230764A=)
3g.184375471A>GCA2735017EIF2B5,THPOc.648+44T>C (n.648+44T>C)
c.228+44T>C (n.228+44T>C)
c.2106+230764A>G (n.2106+230764A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184375471_184375475delinsAAGACCA1425998980EIF2B5,THPOc.648+40_648+44delinsGTCTT (n.648+40_648+44delinsGTCTT)
c.228+40_228+44delinsGTCTT (n.228+40_228+44delinsGTCTT)
c.2106+230764_2106+230768delinsAAGAC (n.2106+230764_2106+230768delinsAAGAC)
3g.184375472A=CA1425998982EIF2B5,THPOc.648+43T= (n.648+43T=)
c.228+43T= (n.228+43T=)
c.2106+230765A= (n.2106+230765A=)
3g.184375472A>GCA548416599EIF2B5,THPOc.648+43T>C (n.648+43T>C)
c.228+43T>C (n.228+43T>C)
c.2106+230765A>G (n.2106+230765A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.184375474_184375477delCA2735016EIF2B5,THPOc.648+40_648+43del (n.648+40_648+43del)
c.228+40_228+43del (n.228+40_228+43del)
c.2106+230767_2106+230770del (n.2106+230767_2106+230770del)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184375473G>ACA548416601EIF2B5,THPOc.648+42C>T (n.648+42C>T)
c.228+42C>T (n.228+42C>T)
c.2106+230766G>A (n.2106+230766G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.184375473G=CA1425998983EIF2B5,THPOc.648+42C= (n.648+42C=)
c.228+42C= (n.228+42C=)
c.2106+230766G= (n.2106+230766G=)
3g.184375473G>TCA2668835430EIF2B5,THPOc.648+42C>A (n.648+42C>A)
c.228+42C>A (n.228+42C>A)
c.2106+230766G>T (n.2106+230766G>T)
 gnomAD v4
3g.184375475C=CA1425998984EIF2B5,THPOc.648+40G= (n.648+40G=)
c.228+40G= (n.228+40G=)
c.2106+230768C= (n.2106+230768C=)
3g.184375475C>TCA2735018EIF2B5,THPOc.648+40G>A (n.648+40G>A)
c.228+40G>A (n.228+40G>A)
c.2106+230768C>T (n.2106+230768C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184375477G>ACA2668835437EIF2B5,THPOc.648+38C>T (n.648+38C>T)
c.228+38C>T (n.228+38C>T)
c.2106+230770G>A (n.2106+230770G>A)
 gnomAD v4
3g.184375478G>ACA88914504EIF2B5,THPOc.648+37C>T (n.648+37C>T)
c.228+37C>T (n.228+37C>T)
c.2106+230771G>A (n.2106+230771G>A)
 dbSNP gnomAD v4
3g.184375478G=CA1425998985EIF2B5,THPOc.648+37C= (n.648+37C=)
c.228+37C= (n.228+37C=)
c.2106+230771G= (n.2106+230771G=)
3g.184375478G>TCA2577979236EIF2B5,THPOc.648+37C>A (n.648+37C>A)
c.228+37C>A (n.228+37C>A)
c.2106+230771G>T (n.2106+230771G>T)
3g.184375479A>GCA2577979237EIF2B5,THPOc.648+36T>C (n.648+36T>C)
c.228+36T>C (n.228+36T>C)
c.2106+230772A>G (n.2106+230772A>G)
3g.184375480C=CA1425998986EIF2B5,THPOc.648+35G= (n.648+35G=)
c.228+35G= (n.228+35G=)
c.2106+230773C= (n.2106+230773C=)
3g.184375480C>TCA903709937EIF2B5,THPOc.648+35G>A (n.648+35G>A)
c.228+35G>A (n.228+35G>A)
c.2106+230773C>T (n.2106+230773C>T)
 dbSNP gnomAD v4
3g.184375482T>CCA548416603EIF2B5,THPOc.648+33A>G (n.648+33A>G)
c.228+33A>G (n.228+33A>G)
c.2106+230775T>C (n.2106+230775T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184375482T=CA1425998987EIF2B5,THPOc.648+33A= (n.648+33A=)
c.228+33A= (n.228+33A=)
c.2106+230775T= (n.2106+230775T=)
3g.184375484G>CCA2577979238EIF2B5,THPOc.648+31C>G (n.648+31C>G)
c.228+31C>G (n.228+31C>G)
c.2106+230777G>C (n.2106+230777G>C)
3g.184375485G>ACA1425998989EIF2B5,THPOc.648+30C>T (n.648+30C>T)
c.228+30C>T (n.228+30C>T)
c.2106+230778G>A (n.2106+230778G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.184375485G=CA1425998988EIF2B5,THPOc.648+30C= (n.648+30C=)
c.228+30C= (n.228+30C=)
c.2106+230778G= (n.2106+230778G=)
3g.184375487_184375490dupCA2668835450EIF2B5,THPOc.648+25_648+28dup (n.648+25_648+28dup)
c.228+25_228+28dup (n.228+25_228+28dup)
c.2106+230780_2106+230783dup (n.2106+230780_2106+230783dup)
 gnomAD v4
3g.184375491C=CA1425998990EIF2B5,THPOc.648+24G= (n.648+24G=)
c.228+24G= (n.228+24G=)
c.2106+230784C= (n.2106+230784C=)
3g.184375491C>TCA548416605EIF2B5,THPOc.648+24G>A (n.648+24G>A)
c.228+24G>A (n.228+24G>A)
c.2106+230784C>T (n.2106+230784C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184375492A>CCA2668835459EIF2B5,THPOc.648+23T>G (n.648+23T>G)
c.228+23T>G (n.228+23T>G)
c.2106+230785A>C (n.2106+230785A>C)
 gnomAD v4
3g.184375493A=CA1425998991EIF2B5,THPOc.648+22T= (n.648+22T=)
c.228+22T= (n.228+22T=)
c.2106+230786A= (n.2106+230786A=)
3g.184375493A>CCA2735019EIF2B5,THPOc.648+22T>G (n.648+22T>G)
c.228+22T>G (n.228+22T>G)
c.2106+230786A>C (n.2106+230786A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184375493A>GCA2668835466EIF2B5,THPOc.648+22T>C (n.648+22T>C)
c.228+22T>C (n.228+22T>C)
c.2106+230786A>G (n.2106+230786A>G)
 gnomAD v4
3g.184375495G>ACA1425998993EIF2B5,THPOc.648+20C>T (n.648+20C>T)
c.228+20C>T (n.228+20C>T)
c.2106+230788G>A (n.2106+230788G>A)
 dbSNP
3g.184375495G=CA1425998992EIF2B5,THPOc.648+20C= (n.648+20C=)
c.228+20C= (n.228+20C=)
c.2106+230788G= (n.2106+230788G=)
3g.184375495G>TCA648079293EIF2B5,THPOc.648+20C>A (n.648+20C>A)
c.228+20C>A (n.228+20C>A)
c.2106+230788G>T (n.2106+230788G>T)
 COSMIC
3g.184375499G>ACA2735020EIF2B5,THPOc.648+16C>T (n.648+16C>T)
c.228+16C>T (n.228+16C>T)
c.2106+230792G>A (n.2106+230792G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184375499G=CA1425998994EIF2B5,THPOc.648+16C= (n.648+16C=)
c.228+16C= (n.228+16C=)
c.2106+230792G= (n.2106+230792G=)
3g.184375500G>ACA1425998995EIF2B5,THPOc.648+15C>T (n.648+15C>T)
c.228+15C>T (n.228+15C>T)
c.2106+230793G>A (n.2106+230793G>A)
 dbSNP
3g.184375500G=CA1425998996EIF2B5,THPOc.648+15C= (n.648+15C=)
c.228+15C= (n.228+15C=)
c.2106+230793G= (n.2106+230793G=)
3g.184375501G>ACA548416608EIF2B5,THPOc.648+14C>T (n.648+14C>T)
c.228+14C>T (n.228+14C>T)
c.2106+230794G>A (n.2106+230794G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184375501G>CCA548416610EIF2B5,THPOc.648+14C>G (n.648+14C>G)
c.228+14C>G (n.228+14C>G)
c.2106+230794G>C (n.2106+230794G>C)
 dbSNP gnomAD v2 gnomAD v4
3g.184375501G=CA1425998997EIF2B5,THPOc.648+14C= (n.648+14C=)
c.228+14C= (n.228+14C=)
c.2106+230794G= (n.2106+230794G=)
3g.184375501G>TCA2735021EIF2B5,THPOc.648+14C>A (n.648+14C>A)
c.228+14C>A (n.228+14C>A)
c.2106+230794G>T (n.2106+230794G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184375502A>CCA2668835492EIF2B5,THPOc.648+13T>G (n.648+13T>G)
c.228+13T>G (n.228+13T>G)
c.2106+230795A>C (n.2106+230795A>C)
 gnomAD v4
3g.184375503T>CCA2735022EIF2B5,THPOc.648+12A>G (n.648+12A>G)
c.228+12A>G (n.228+12A>G)
c.2106+230796T>C (n.2106+230796T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184375503T=CA1425998998EIF2B5,THPOc.648+12A= (n.648+12A=)
c.228+12A= (n.228+12A=)
c.2106+230796T= (n.2106+230796T=)
3g.184375507T>ACA2668835506EIF2B5,THPOc.648+8A>T (n.648+8A>T)
c.228+8A>T (n.228+8A>T)
c.2106+230800T>A (n.2106+230800T>A)
 gnomAD v4
3g.184375508T>GCA88914513EIF2B5,THPOc.648+7A>C (n.648+7A>C)
c.228+7A>C (n.228+7A>C)
c.2106+230801T>G (n.2106+230801T>G)
 dbSNP gnomAD v3 gnomAD v4
3g.184375508T=CA1425998999EIF2B5,THPOc.648+7A= (n.648+7A=)
c.228+7A= (n.228+7A=)
c.2106+230801T= (n.2106+230801T=)
3g.184375511T>CCA1425999001EIF2B5,THPOc.648+4A>G (n.648+4A>G)
c.228+4A>G (n.228+4A>G)
c.2106+230804T>C (n.2106+230804T>C)
 dbSNP gnomAD v4
3g.184375511T>GCA548416612EIF2B5,THPOc.648+4A>C (n.648+4A>C)
c.228+4A>C (n.228+4A>C)
c.2106+230804T>G (n.2106+230804T>G)
 dbSNP gnomAD v2 gnomAD v4
3g.184375511T=CA1425999000EIF2B5,THPOc.648+4A= (n.648+4A=)
c.228+4A= (n.228+4A=)
c.2106+230804T= (n.2106+230804T=)
3g.184375513A=CA1425999002EIF2B5,THPOc.648+2T= (n.648+2T=)
c.228+2T= (n.228+2T=)
c.2106+230806A= (n.2106+230806A=)
3g.184375513A>CCA355462963EIF2B5,THPOc.648+2T>G (n.648+2T>G)
c.228+2T>G (n.228+2T>G)
c.2106+230806A>C (n.2106+230806A>C)
 dbSNP
3g.184375513A>GCA355462964EIF2B5,THPOc.648+2T>C (n.648+2T>C)
c.228+2T>C (n.228+2T>C)
c.2106+230806A>G (n.2106+230806A>G)
 gnomAD v4
3g.184375513A>TCA355462965EIF2B5,THPOc.648+2T>A (n.648+2T>A)
c.228+2T>A (n.228+2T>A)
c.2106+230806A>T (n.2106+230806A>T)
3g.184375514C>ACA355462966EIF2B5,THPOc.648+1G>T (n.648+1G>T)
c.228+1G>T (n.228+1G>T)
c.2106+230807C>A (n.2106+230807C>A)
3g.184375514C>GCA355462967EIF2B5,THPOc.648+1G>C (n.648+1G>C)
c.228+1G>C (n.228+1G>C)
c.2106+230807C>G (n.2106+230807C>G)
3g.184375514C>TCA355462968EIF2B5,THPOc.648+1G>A (n.648+1G>A)
c.228+1G>A (n.228+1G>A)
c.2106+230807C>T (n.2106+230807C>T)
 gnomAD v4
3g.184375515C>ACA355462969EIF2B5,THPOc.648G>T (p.Met216Ile)
c.228G>T (p.Met76Ile)
c.2106+230808C>A (n.2106+230808C>A)
 gnomAD v4
3g.184375515C>GCA355462970EIF2B5,THPOc.648G>C (p.Met216Ile)
c.228G>C (p.Met76Ile)
c.2106+230808C>G (n.2106+230808C>G)
3g.184375515C>TCA355462971EIF2B5,THPOc.648G>A (p.Met216Ile)
c.228G>A (p.Met76Ile)
c.2106+230808C>T (n.2106+230808C>T)
3g.184375516A=CA1425999003EIF2B5,THPOc.647T= (p.Met216=)
c.227T= (p.Met76=)
c.2106+230809A= (n.2106+230809A=)
3g.184375516A>CCA355462972EIF2B5,THPOc.647T>G (p.Met216Arg)
c.227T>G (p.Met76Arg)
c.2106+230809A>C (n.2106+230809A>C)
3g.184375516A>GCA355462973EIF2B5,THPOc.647T>C (p.Met216Thr)
c.227T>C (p.Met76Thr)
c.2106+230809A>G (n.2106+230809A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.184375516A>TCA355462974EIF2B5,THPOc.647T>A (p.Met216Lys)
c.227T>A (p.Met76Lys)
c.2106+230809A>T (n.2106+230809A>T)
3g.184375517T>ACA355462977EIF2B5,THPOc.646A>T (p.Met216Leu)
c.226A>T (p.Met76Leu)
c.2106+230810T>A (n.2106+230810T>A)
 dbSNP gnomAD v3 gnomAD v4
3g.184375517T>CCA355462976EIF2B5,THPOc.646A>G (p.Met216Val)
c.226A>G (p.Met76Val)
c.2106+230810T>C (n.2106+230810T>C)
3g.184375517T>GCA355462975EIF2B5,THPOc.646A>C (p.Met216Leu)
c.226A>C (p.Met76Leu)
c.2106+230810T>G (n.2106+230810T>G)
3g.184375517T=CA1425999004EIF2B5,THPOc.646A= (p.Met216=)
c.226A= (p.Met76=)
c.2106+230810T= (n.2106+230810T=)
3g.184375518C>ACA355462978EIF2B5,THPOc.645G>T (p.Gln215His)
c.225G>T (p.Gln75His)
c.2106+230811C>A (n.2106+230811C>A)
3g.184375518C>GCA355462979EIF2B5,THPOc.645G>C (p.Gln215His)
c.225G>C (p.Gln75His)
c.2106+230811C>G (n.2106+230811C>G)
3g.184375518C>TCA437172361EIF2B5,THPOc.645G>A (p.Gln215=)
c.225G>A (p.Gln75=)
c.2106+230811C>T (n.2106+230811C>T)
3g.184375519T>ACA355462980EIF2B5,THPOc.644A>T (p.Gln215Leu)
c.224A>T (p.Gln75Leu)
c.2106+230812T>A (n.2106+230812T>A)
3g.184375519T>CCA355462981EIF2B5,THPOc.644A>G (p.Gln215Arg)
c.224A>G (p.Gln75Arg)
c.2106+230812T>C (n.2106+230812T>C)
3g.184375519T>GCA355462982EIF2B5,THPOc.644A>C (p.Gln215Pro)
c.224A>C (p.Gln75Pro)
c.2106+230812T>G (n.2106+230812T>G)
3g.184375520G>ACA355462983EIF2B5,THPOc.643C>T (p.Gln215Ter)
c.223C>T (p.Gln75Ter)
c.2106+230813G>A (n.2106+230813G>A)
3g.184375520G>CCA355462984EIF2B5,THPOc.643C>G (p.Gln215Glu)
c.223C>G (p.Gln75Glu)
c.2106+230813G>C (n.2106+230813G>C)
3g.184375520G>TCA355462985EIF2B5,THPOc.643C>A (p.Gln215Lys)
c.223C>A (p.Gln75Lys)
c.2106+230813G>T (n.2106+230813G>T)
3g.184375522delCA2577979239EIF2B5,THPOc.643del (p.Gln215ArgfsTer14)
c.223del (p.Gln75ArgfsTer14)
c.2106+230815del (n.2106+230815del)
3g.184375521G>ACA437172393EIF2B5,THPOc.642C>T (p.Thr214=)
c.222C>T (p.Thr74=)
c.2106+230814G>A (n.2106+230814G>A)
3g.184375521G>CCA437172396EIF2B5,THPOc.642C>G (p.Thr214=)
c.222C>G (p.Thr74=)
c.2106+230814G>C (n.2106+230814G>C)
3g.184375521G>TCA437172399EIF2B5,THPOc.642C>A (p.Thr214=)
c.222C>A (p.Thr74=)
c.2106+230814G>T (n.2106+230814G>T)
 gnomAD v4 COSMIC
3g.184375522G>ACA355462986EIF2B5,THPOc.641C>T (p.Thr214Ile)
c.221C>T (p.Thr74Ile)
c.2106+230815G>A (n.2106+230815G>A)
3g.184375522G>CCA355462987EIF2B5,THPOc.641C>G (p.Thr214Ser)
c.221C>G (p.Thr74Ser)
c.2106+230815G>C (n.2106+230815G>C)
3g.184375522G>TCA355462988EIF2B5,THPOc.641C>A (p.Thr214Asn)
c.221C>A (p.Thr74Asn)
c.2106+230815G>T (n.2106+230815G>T)
3g.184375523T>ACA355462989EIF2B5,THPOc.640A>T (p.Thr214Ser)
c.220A>T (p.Thr74Ser)
c.2106+230816T>A (n.2106+230816T>A)
3g.184375523T>CCA355462990EIF2B5,THPOc.640A>G (p.Thr214Ala)
c.220A>G (p.Thr74Ala)
c.2106+230816T>C (n.2106+230816T>C)
3g.184375523T>GCA355462991EIF2B5,THPOc.640A>C (p.Thr214Pro)
c.220A>C (p.Thr74Pro)
c.2106+230816T>G (n.2106+230816T>G)
3g.184375524T>ACA355462992EIF2B5,THPOc.639A>T (p.Lys213Asn)
c.219A>T (p.Lys73Asn)
c.2106+230817T>A (n.2106+230817T>A)
 dbSNP gnomAD v2 gnomAD v4
3g.184375524T>CCA437172410EIF2B5,THPOc.639A>G (p.Lys213=)
c.219A>G (p.Lys73=)
c.2106+230817T>C (n.2106+230817T>C)
 gnomAD v4
3g.184375524T>GCA355462993EIF2B5,THPOc.639A>C (p.Lys213Asn)
c.219A>C (p.Lys73Asn)
c.2106+230817T>G (n.2106+230817T>G)
3g.184375524T=CA1425999005EIF2B5,THPOc.639A= (p.Lys213=)
c.219A= (p.Lys73=)
c.2106+230817T= (n.2106+230817T=)
3g.184375525T>ACA355462994EIF2B5,THPOc.638A>T (p.Lys213Ile)
c.218A>T (p.Lys73Ile)
c.2106+230818T>A (n.2106+230818T>A)
3g.184375525T>CCA355462995EIF2B5,THPOc.638A>G (p.Lys213Arg)
c.218A>G (p.Lys73Arg)
c.2106+230818T>C (n.2106+230818T>C)
3g.184375525T>GCA355462996EIF2B5,THPOc.638A>C (p.Lys213Thr)
c.218A>C (p.Lys73Thr)
c.2106+230818T>G (n.2106+230818T>G)
3g.184375526T>ACA355462997EIF2B5,THPOc.637A>T (p.Lys213Ter)
c.217A>T (p.Lys73Ter)
c.2106+230819T>A (n.2106+230819T>A)
3g.184375526T>CCA355462998EIF2B5,THPOc.637A>G (p.Lys213Glu)
c.217A>G (p.Lys73Glu)
c.2106+230819T>C (n.2106+230819T>C)
3g.184375526T>GCA355462999EIF2B5,THPOc.637A>C (p.Lys213Gln)
c.217A>C (p.Lys73Gln)
c.2106+230819T>G (n.2106+230819T>G)
3g.184375527C>ACA355463000EIF2B5,THPOc.636G>T (p.Trp212Cys)
c.216G>T (p.Trp72Cys)
c.2106+230820C>A (n.2106+230820C>A)
3g.184375527C>GCA355463001EIF2B5,THPOc.636G>C (p.Trp212Cys)
c.216G>C (p.Trp72Cys)
c.2106+230820C>G (n.2106+230820C>G)
3g.184375527C>TCA355463002EIF2B5,THPOc.636G>A (p.Trp212Ter)
c.216G>A (p.Trp72Ter)
c.2106+230820C>T (n.2106+230820C>T)
3g.184375528C>ACA355463003EIF2B5,THPOc.635G>T (p.Trp212Leu)
c.215G>T (p.Trp72Leu)
c.2106+230821C>A (n.2106+230821C>A)
3g.184375528C>GCA355463004EIF2B5,THPOc.635G>C (p.Trp212Ser)
c.215G>C (p.Trp72Ser)
c.2106+230821C>G (n.2106+230821C>G)
3g.184375528C>TCA355463005EIF2B5,THPOc.635G>A (p.Trp212Ter)
c.215G>A (p.Trp72Ter)
c.2106+230821C>T (n.2106+230821C>T)
3g.184375529A=CA1425999006EIF2B5,THPOc.634T= (p.Trp212=)
c.214T= (p.Trp72=)
c.2106+230822A= (n.2106+230822A=)
3g.184375529A>CCA355463007EIF2B5,THPOc.634T>G (p.Trp212Gly)
c.214T>G (p.Trp72Gly)
c.2106+230822A>C (n.2106+230822A>C)
3g.184375529A>GCA355463008EIF2B5,THPOc.634T>C (p.Trp212Arg)
c.214T>C (p.Trp72Arg)
c.2106+230822A>G (n.2106+230822A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.184375529A>TCA355463006EIF2B5,THPOc.634T>A (p.Trp212Arg)
c.214T>A (p.Trp72Arg)
c.2106+230822A>T (n.2106+230822A>T)
 dbSNP gnomAD v3 gnomAD v4
3g.184375530T>ACA355463010EIF2B5,THPOc.633A>T (p.Glu211Asp)
c.213A>T (p.Glu71Asp)
c.2106+230823T>A (n.2106+230823T>A)
3g.184375530T>CCA437172434EIF2B5,THPOc.633A>G (p.Glu211=)
c.213A>G (p.Glu71=)
c.2106+230823T>C (n.2106+230823T>C)
3g.184375530T>GCA355463009EIF2B5,THPOc.633A>C (p.Glu211Asp)
c.213A>C (p.Glu71Asp)
c.2106+230823T>G (n.2106+230823T>G)
3g.184375531delCA2668835574EIF2B5,THPOc.633del (p.Glu211AspfsTer18)
c.213del (p.Glu71AspfsTer18)
c.2106+230824del (n.2106+230824del)
 gnomAD v4
3g.184375531T>ACA355463011EIF2B5,THPOc.632A>T (p.Glu211Val)
c.212A>T (p.Glu71Val)
c.2106+230824T>A (n.2106+230824T>A)
 gnomAD v4
3g.184375531T>CCA355463012EIF2B5,THPOc.632A>G (p.Glu211Gly)
c.212A>G (p.Glu71Gly)
c.2106+230824T>C (n.2106+230824T>C)
 gnomAD v4
3g.184375531T>GCA355463013EIF2B5,THPOc.632A>C (p.Glu211Ala)
c.212A>C (p.Glu71Ala)
c.2106+230824T>G (n.2106+230824T>G)
3g.184375532C>ACA355463014EIF2B5,THPOc.631G>T (p.Glu211Ter)
c.211G>T (p.Glu71Ter)
c.2106+230825C>A (n.2106+230825C>A)
3g.184375532C=CA1425999007EIF2B5,THPOc.631G= (p.Glu211=)
c.211G= (p.Glu71=)
c.2106+230825C= (n.2106+230825C=)
3g.184375532C>GCA355463015EIF2B5,THPOc.631G>C (p.Glu211Gln)
c.211G>C (p.Glu71Gln)
c.2106+230825C>G (n.2106+230825C>G)
3g.184375532C>TCA355463016EIF2B5,THPOc.631G>A (p.Glu211Lys)
c.211G>A (p.Glu71Lys)
c.2106+230825C>T (n.2106+230825C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.184375533T>ACA88914518EIF2B5,THPOc.630A>T (p.Gly210=)
c.210A>T (p.Gly70=)
c.2106+230826T>A (n.2106+230826T>A)
 dbSNP gnomAD v3 gnomAD v4
3g.184375533T>CCA437172444EIF2B5,THPOc.630A>G (p.Gly210=)
c.210A>G (p.Gly70=)
c.2106+230826T>C (n.2106+230826T>C)
3g.184375533T>GCA437172446EIF2B5,THPOc.630A>C (p.Gly210=)
c.210A>C (p.Gly70=)
c.2106+230826T>G (n.2106+230826T>G)
3g.184375533T=CA1425999008EIF2B5,THPOc.630A= (p.Gly210=)
c.210A= (p.Gly70=)
c.2106+230826T= (n.2106+230826T=)
3g.184375534C>ACA355463017EIF2B5,THPOc.629G>T (p.Gly210Val)
c.209G>T (p.Gly70Val)
c.2106+230827C>A (n.2106+230827C>A)
3g.184375534C>GCA355463018EIF2B5,THPOc.629G>C (p.Gly210Ala)
c.209G>C (p.Gly70Ala)
c.2106+230827C>G (n.2106+230827C>G)
3g.184375534C>TCA355463019EIF2B5,THPOc.629G>A (p.Gly210Glu)
c.209G>A (p.Gly70Glu)
c.2106+230827C>T (n.2106+230827C>T)
 gnomAD v4
3g.184375535C>ACA355463020EIF2B5,THPOc.628G>T (p.Gly210Ter)
c.208G>T (p.Gly70Ter)
c.2106+230828C>A (n.2106+230828C>A)
3g.184375535C=CA1425999009EIF2B5,THPOc.628G= (p.Gly210=)
c.208G= (p.Gly70=)
c.2106+230828C= (n.2106+230828C=)
3g.184375535C>GCA355463021EIF2B5,THPOc.628G>C (p.Gly210Arg)
c.208G>C (p.Gly70Arg)
c.2106+230828C>G (n.2106+230828C>G)
3g.184375535C>TCA88914519EIF2B5,THPOc.628G>A (p.Gly210Arg)
c.208G>A (p.Gly70Arg)
c.2106+230828C>T (n.2106+230828C>T)
 dbSNP
3g.184375536C>ACA355463023EIF2B5,THPOc.627G>T (p.Leu209Phe)
c.207G>T (p.Leu69Phe)
c.2106+230829C>A (n.2106+230829C>A)
3g.184375536C>GCA355463022EIF2B5,THPOc.627G>C (p.Leu209Phe)
c.207G>C (p.Leu69Phe)
c.2106+230829C>G (n.2106+230829C>G)
3g.184375536C>TCA437172455EIF2B5,THPOc.627G>A (p.Leu209=)
c.207G>A (p.Leu69=)
c.2106+230829C>T (n.2106+230829C>T)
3g.184375537A>CCA355463024EIF2B5,THPOc.626T>G (p.Leu209Trp)
c.206T>G (p.Leu69Trp)
c.2106+230830A>C (n.2106+230830A>C)
3g.184375537A>GCA355463025EIF2B5,THPOc.626T>C (p.Leu209Ser)
c.206T>C (p.Leu69Ser)
c.2106+230830A>G (n.2106+230830A>G)
3g.184375537A>TCA355463026EIF2B5,THPOc.626T>A (p.Leu209Ter)
c.206T>A (p.Leu69Ter)
c.2106+230830A>T (n.2106+230830A>T)
3g.184375538A=CA1425999010EIF2B5,THPOc.625T= (p.Leu209=)
c.205T= (p.Leu69=)
c.2106+230831A= (n.2106+230831A=)
3g.184375538A>CCA355463027EIF2B5,THPOc.625T>G (p.Leu209Val)
c.205T>G (p.Leu69Val)
c.2106+230831A>C (n.2106+230831A>C)
 dbSNP gnomAD v2 gnomAD v4
3g.184375538A>GCA437172464EIF2B5,THPOc.625T>C (p.Leu209=)
c.205T>C (p.Leu69=)
c.2106+230831A>G (n.2106+230831A>G)
 gnomAD v4
3g.184375538A>TCA355463028EIF2B5,THPOc.625T>A (p.Leu209Met)
c.205T>A (p.Leu69Met)
c.2106+230831A>T (n.2106+230831A>T)
3g.184375539G>ACA437172468EIF2B5,THPOc.624C>T (p.Ser208=)
c.204C>T (p.Ser68=)
c.2106+230832G>A (n.2106+230832G>A)
3g.184375539G>CCA355463029EIF2B5,THPOc.624C>G (p.Ser208Arg)
c.204C>G (p.Ser68Arg)
c.2106+230832G>C (n.2106+230832G>C)
3g.184375539G>TCA355463030EIF2B5,THPOc.624C>A (p.Ser208Arg)
c.204C>A (p.Ser68Arg)
c.2106+230832G>T (n.2106+230832G>T)
3g.184375540C>ACA2735023EIF2B5,THPOc.623G>T (p.Ser208Ile)
c.203G>T (p.Ser68Ile)
c.2106+230833C>A (n.2106+230833C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184375540C=CA1425999011EIF2B5,THPOc.623G= (p.Ser208=)
c.203G= (p.Ser68=)
c.2106+230833C= (n.2106+230833C=)
3g.184375540C>GCA355463031EIF2B5,THPOc.623G>C (p.Ser208Thr)
c.203G>C (p.Ser68Thr)
c.2106+230833C>G (n.2106+230833C>G)
 gnomAD v4
3g.184375540C>TCA2735024EIF2B5,THPOc.623G>A (p.Ser208Asn)
c.203G>A (p.Ser68Asn)
c.2106+230833C>T (n.2106+230833C>T)
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.184375541T>ACA355463032EIF2B5,THPOc.622A>T (p.Ser208Cys)
c.202A>T (p.Ser68Cys)
c.2106+230834T>A (n.2106+230834T>A)
3g.184375541T>CCA355463033EIF2B5,THPOc.622A>G (p.Ser208Gly)
c.202A>G (p.Ser68Gly)
c.2106+230834T>C (n.2106+230834T>C)
 gnomAD v4
3g.184375541T>GCA355463034EIF2B5,THPOc.622A>C (p.Ser208Arg)
c.202A>C (p.Ser68Arg)
c.2106+230834T>G (n.2106+230834T>G)
 gnomAD v4
3g.184375542A=CA1425999012EIF2B5,THPOc.621T= (p.Phe207=)
c.201T= (p.Phe67=)
c.2106+230835A= (n.2106+230835A=)
3g.184375542A>CCA355463035EIF2B5,THPOc.621T>G (p.Phe207Leu)
c.201T>G (p.Phe67Leu)
c.2106+230835A>C (n.2106+230835A>C)
3g.184375542A>GCA2735025EIF2B5,THPOc.621T>C (p.Phe207=)
c.201T>C (p.Phe67=)
c.2106+230835A>G (n.2106+230835A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184375542A>TCA88914544EIF2B5,THPOc.621T>A (p.Phe207Leu)
c.201T>A (p.Phe67Leu)
c.2106+230835A>T (n.2106+230835A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184375543A>CCA355463036EIF2B5,THPOc.620T>G (p.Phe207Cys)
c.200T>G (p.Phe67Cys)
c.2106+230836A>C (n.2106+230836A>C)
3g.184375543A>GCA355463037EIF2B5,THPOc.620T>C (p.Phe207Ser)
c.200T>C (p.Phe67Ser)
c.2106+230836A>G (n.2106+230836A>G)
3g.184375543A>TCA355463038EIF2B5,THPOc.620T>A (p.Phe207Tyr)
c.200T>A (p.Phe67Tyr)
c.2106+230836A>T (n.2106+230836A>T)
3g.184375544A>CCA355463039EIF2B5,THPOc.619T>G (p.Phe207Val)
c.199T>G (p.Phe67Val)
c.2106+230837A>C (n.2106+230837A>C)
3g.184375544A>GCA355463040EIF2B5,THPOc.619T>C (p.Phe207Leu)
c.199T>C (p.Phe67Leu)
c.2106+230837A>G (n.2106+230837A>G)
3g.184375544A>TCA355463041EIF2B5,THPOc.619T>A (p.Phe207Ile)
c.199T>A (p.Phe67Ile)
c.2106+230837A>T (n.2106+230837A>T)
3g.184375545G>ACA437172495EIF2B5,THPOc.618C>T (p.Asp206=)
c.198C>T (p.Asp66=)
c.2106+230838G>A (n.2106+230838G>A)
 gnomAD v4
3g.184375545G>CCA355463042EIF2B5,THPOc.618C>G (p.Asp206Glu)
c.198C>G (p.Asp66Glu)
c.2106+230838G>C (n.2106+230838G>C)
3g.184375545G>TCA355463043EIF2B5,THPOc.618C>A (p.Asp206Glu)
c.198C>A (p.Asp66Glu)
c.2106+230838G>T (n.2106+230838G>T)
3g.184375546T>ACA355463044EIF2B5,THPOc.617A>T (p.Asp206Val)
c.197A>T (p.Asp66Val)
c.2106+230839T>A (n.2106+230839T>A)
3g.184375546T>CCA355463045EIF2B5,THPOc.617A>G (p.Asp206Gly)
c.197A>G (p.Asp66Gly)
c.2106+230839T>C (n.2106+230839T>C)
3g.184375546T>GCA355463046EIF2B5,THPOc.617A>C (p.Asp206Ala)
c.197A>C (p.Asp66Ala)
c.2106+230839T>G (n.2106+230839T>G)
3g.184375547C>ACA355463049EIF2B5,THPOc.616G>T (p.Asp206Tyr)
c.196G>T (p.Asp66Tyr)
c.2106+230840C>A (n.2106+230840C>A)
3g.184375547C>GCA355463048EIF2B5,THPOc.616G>C (p.Asp206His)
c.196G>C (p.Asp66His)
c.2106+230840C>G (n.2106+230840C>G)
3g.184375547C>TCA355463047EIF2B5,THPOc.616G>A (p.Asp206Asn)
c.196G>A (p.Asp66Asn)
c.2106+230840C>T (n.2106+230840C>T)
3g.184375548C>ACA437172508EIF2B5,THPOc.615G>T (p.Val205=)
c.195G>T (p.Val65=)
c.2106+230841C>A (n.2106+230841C>A)
3g.184375548C=CA1425999013EIF2B5,THPOc.615G= (p.Val205=)
c.195G= (p.Val65=)
c.2106+230841C= (n.2106+230841C=)
3g.184375548C>GCA2735026EIF2B5,THPOc.615G>C (p.Val205=)
c.195G>C (p.Val65=)
c.2106+230841C>G (n.2106+230841C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184375548C>TCA437172512EIF2B5,THPOc.615G>A (p.Val205=)
c.195G>A (p.Val65=)
c.2106+230841C>T (n.2106+230841C>T)
3g.184375549A>CCA355463050EIF2B5,THPOc.614T>G (p.Val205Gly)
c.194T>G (p.Val65Gly)
c.2106+230842A>C (n.2106+230842A>C)
3g.184375549A>GCA355463051EIF2B5,THPOc.614T>C (p.Val205Ala)
c.194T>C (p.Val65Ala)
c.2106+230842A>G (n.2106+230842A>G)
3g.184375549A>TCA355463052EIF2B5,THPOc.614T>A (p.Val205Glu)
c.194T>A (p.Val65Glu)
c.2106+230842A>T (n.2106+230842A>T)
3g.184375550C>ACA355463053EIF2B5,THPOc.613G>T (p.Val205Leu)
c.193G>T (p.Val65Leu)
c.2106+230843C>A (n.2106+230843C>A)
3g.184375550C>GCA355463054EIF2B5,THPOc.613G>C (p.Val205Leu)
c.193G>C (p.Val65Leu)
c.2106+230843C>G (n.2106+230843C>G)
3g.184375550C>TCA355463055EIF2B5,THPOc.613G>A (p.Val205Met)
c.193G>A (p.Val65Met)
c.2106+230843C>T (n.2106+230843C>T)
 gnomAD v4
3g.184375551A>CCA437172526EIF2B5,THPOc.612T>G (p.Ala204=)
c.192T>G (p.Ala64=)
c.2106+230844A>C (n.2106+230844A>C)
3g.184375551A>GCA437172522EIF2B5,THPOc.612T>C (p.Ala204=)
c.192T>C (p.Ala64=)
c.2106+230844A>G (n.2106+230844A>G)
 gnomAD v4
3g.184375551A>TCA437172524EIF2B5,THPOc.612T>A (p.Ala204=)
c.192T>A (p.Ala64=)
c.2106+230844A>T (n.2106+230844A>T)
3g.184375552G>ACA355463056EIF2B5,THPOc.611C>T (p.Ala204Val)
c.191C>T (p.Ala64Val)
c.2106+230845G>A (n.2106+230845G>A)
 gnomAD v4
3g.184375552G>CCA355463057EIF2B5,THPOc.611C>G (p.Ala204Gly)
c.191C>G (p.Ala64Gly)
c.2106+230845G>C (n.2106+230845G>C)
3g.184375552G>TCA355463058EIF2B5,THPOc.611C>A (p.Ala204Asp)
c.191C>A (p.Ala64Asp)
c.2106+230845G>T (n.2106+230845G>T)
3g.184375553C>ACA355463059EIF2B5,THPOc.610G>T (p.Ala204Ser)
c.190G>T (p.Ala64Ser)
c.2106+230846C>A (n.2106+230846C>A)
3g.184375553C=CA1425999014EIF2B5,THPOc.610G= (p.Ala204=)
c.190G= (p.Ala64=)
c.2106+230846C= (n.2106+230846C=)
3g.184375553C>GCA355463060EIF2B5,THPOc.610G>C (p.Ala204Pro)
c.190G>C (p.Ala64Pro)
c.2106+230846C>G (n.2106+230846C>G)
3g.184375553C>TCA355463061EIF2B5,THPOc.610G>A (p.Ala204Thr)
c.190G>A (p.Ala64Thr)
c.2106+230846C>T (n.2106+230846C>T)
 dbSNP gnomAD v4
3g.184375554A>CCA437172537EIF2B5,THPOc.609T>G (p.Pro203=)
c.189T>G (p.Pro63=)
c.2106+230847A>C (n.2106+230847A>C)
3g.184375554A>GCA437172539EIF2B5,THPOc.609T>C (p.Pro203=)
c.189T>C (p.Pro63=)
c.2106+230847A>G (n.2106+230847A>G)
 gnomAD v4
3g.184375554A>TCA437172544EIF2B5,THPOc.609T>A (p.Pro203=)
c.189T>A (p.Pro63=)
c.2106+230847A>T (n.2106+230847A>T)
3g.184375555G>ACA355463063EIF2B5,THPOc.608C>T (p.Pro203Leu)
c.188C>T (p.Pro63Leu)
c.2106+230848G>A (n.2106+230848G>A)
3g.184375555G>CCA355463064EIF2B5,THPOc.608C>G (p.Pro203Arg)
c.188C>G (p.Pro63Arg)
c.2106+230848G>C (n.2106+230848G>C)
3g.184375555G>TCA355463062EIF2B5,THPOc.608C>A (p.Pro203His)
c.188C>A (p.Pro63His)
c.2106+230848G>T (n.2106+230848G>T)
3g.184375556G>ACA355463067EIF2B5,THPOc.607C>T (p.Pro203Ser)
c.187C>T (p.Pro63Ser)
c.2106+230849G>A (n.2106+230849G>A)
3g.184375556G>CCA355463065EIF2B5,THPOc.607C>G (p.Pro203Ala)
c.187C>G (p.Pro63Ala)
c.2106+230849G>C (n.2106+230849G>C)
3g.184375556G>TCA355463066EIF2B5,THPOc.607C>A (p.Pro203Thr)
c.187C>A (p.Pro63Thr)
c.2106+230849G>T (n.2106+230849G>T)
3g.184375557C>ACA437172557EIF2B5,THPOc.606G>T (p.Leu202=)
c.186G>T (p.Leu62=)
c.2106+230850C>A (n.2106+230850C>A)
3g.184375557C>GCA437172559EIF2B5,THPOc.606G>C (p.Leu202=)
c.186G>C (p.Leu62=)
c.2106+230850C>G (n.2106+230850C>G)
3g.184375557C>TCA437172561EIF2B5,THPOc.606G>A (p.Leu202=)
c.186G>A (p.Leu62=)
c.2106+230850C>T (n.2106+230850C>T)
3g.184375558A>CCA355463068EIF2B5,THPOc.605T>G (p.Leu202Arg)
c.185T>G (p.Leu62Arg)
c.2106+230851A>C (n.2106+230851A>C)
3g.184375558A>GCA355463069EIF2B5,THPOc.605T>C (p.Leu202Pro)
c.185T>C (p.Leu62Pro)
c.2106+230851A>G (n.2106+230851A>G)
 gnomAD v4
3g.184375558A>TCA355463070EIF2B5,THPOc.605T>A (p.Leu202Gln)
c.185T>A (p.Leu62Gln)
c.2106+230851A>T (n.2106+230851A>T)
3g.184375559G>ACA437172570EIF2B5,THPOc.604C>T (p.Leu202=)
c.184C>T (p.Leu62=)
c.2106+230852G>A (n.2106+230852G>A)
 gnomAD v4
3g.184375559G>CCA355463071EIF2B5,THPOc.604C>G (p.Leu202Val)
c.184C>G (p.Leu62Val)
c.2106+230852G>C (n.2106+230852G>C)
3g.184375559G>TCA355463072EIF2B5,THPOc.604C>A (p.Leu202Met)
c.184C>A (p.Leu62Met)
c.2106+230852G>T (n.2106+230852G>T)
3g.184375560C>ACA2735027EIF2B5,THPOc.603G>T (p.Leu201=)
c.183G>T (p.Leu61=)
c.2106+230853C>A (n.2106+230853C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184375560C=CA1425999015EIF2B5,THPOc.603G= (p.Leu201=)
c.183G= (p.Leu61=)
c.2106+230853C= (n.2106+230853C=)
3g.184375560C>GCA437172574EIF2B5,THPOc.603G>C (p.Leu201=)
c.183G>C (p.Leu61=)
c.2106+230853C>G (n.2106+230853C>G)
3g.184375560C>TCA437172576EIF2B5,THPOc.603G>A (p.Leu201=)
c.183G>A (p.Leu61=)
c.2106+230853C>T (n.2106+230853C>T)

Number of alleles fetched