Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
3g.184375561A>CCA355463073EIF2B5,THPOc.602T>G (p.Leu201Arg)
c.182T>G (p.Leu61Arg)
c.2106+230854A>C (n.2106+230854A>C)
3g.184375561A>GCA355463074EIF2B5,THPOc.602T>C (p.Leu201Pro)
c.182T>C (p.Leu61Pro)
c.2106+230854A>G (n.2106+230854A>G)
3g.184375561A>TCA355463075EIF2B5,THPOc.602T>A (p.Leu201Gln)
c.182T>A (p.Leu61Gln)
c.2106+230854A>T (n.2106+230854A>T)
3g.184375562G>ACA437172584EIF2B5,THPOc.601C>T (p.Leu201=)
c.181C>T (p.Leu61=)
c.2106+230855G>A (n.2106+230855G>A)
3g.184375562G>CCA355463076EIF2B5,THPOc.601C>G (p.Leu201Val)
c.181C>G (p.Leu61Val)
c.2106+230855G>C (n.2106+230855G>C)
3g.184375562G>TCA355463077EIF2B5,THPOc.601C>A (p.Leu201Met)
c.181C>A (p.Leu61Met)
c.2106+230855G>T (n.2106+230855G>T)
3g.184375563G>ACA437172588EIF2B5,THPOc.600C>T (p.Val200=)
c.180C>T (p.Val60=)
c.2106+230856G>A (n.2106+230856G>A)
3g.184375563G>CCA437172590EIF2B5,THPOc.600C>G (p.Val200=)
c.180C>G (p.Val60=)
c.2106+230856G>C (n.2106+230856G>C)
3g.184375563G>TCA437172593EIF2B5,THPOc.600C>A (p.Val200=)
c.180C>A (p.Val60=)
c.2106+230856G>T (n.2106+230856G>T)
3g.184375564A>CCA355463080EIF2B5,THPOc.599T>G (p.Val200Gly)
c.179T>G (p.Val60Gly)
c.2106+230857A>C (n.2106+230857A>C)
3g.184375564A>GCA355463078EIF2B5,THPOc.599T>C (p.Val200Ala)
c.179T>C (p.Val60Ala)
c.2106+230857A>G (n.2106+230857A>G)
3g.184375564A>TCA355463079EIF2B5,THPOc.599T>A (p.Val200Asp)
c.179T>A (p.Val60Asp)
c.2106+230857A>T (n.2106+230857A>T)
3g.184375565C>ACA355463081EIF2B5,THPOc.598G>T (p.Val200Phe)
c.178G>T (p.Val60Phe)
c.2106+230858C>A (n.2106+230858C>A)
3g.184375565C>GCA355463082EIF2B5,THPOc.598G>C (p.Val200Leu)
c.178G>C (p.Val60Leu)
c.2106+230858C>G (n.2106+230858C>G)
3g.184375565C>TCA355463083EIF2B5,THPOc.598G>A (p.Val200Ile)
c.178G>A (p.Val60Ile)
c.2106+230858C>T (n.2106+230858C>T)
3g.184375566A>CCA437172605EIF2B5,THPOc.597T>G (p.Pro199=)
c.177T>G (p.Pro59=)
c.2106+230859A>C (n.2106+230859A>C)
3g.184375566A>GCA437172607EIF2B5,THPOc.597T>C (p.Pro199=)
c.177T>C (p.Pro59=)
c.2106+230859A>G (n.2106+230859A>G)
3g.184375566A>TCA437172609EIF2B5,THPOc.597T>A (p.Pro199=)
c.177T>A (p.Pro59=)
c.2106+230859A>T (n.2106+230859A>T)
3g.184375567G>ACA355463084EIF2B5,THPOc.596C>T (p.Pro199Leu)
c.176C>T (p.Pro59Leu)
c.2106+230860G>A (n.2106+230860G>A)
3g.184375567G>CCA355463085EIF2B5,THPOc.596C>G (p.Pro199Arg)
c.176C>G (p.Pro59Arg)
c.2106+230860G>C (n.2106+230860G>C)
3g.184375567G>TCA355463086EIF2B5,THPOc.596C>A (p.Pro199His)
c.176C>A (p.Pro59His)
c.2106+230860G>T (n.2106+230860G>T)
3g.184375568G>ACA88914577EIF2B5,THPOc.595C>T (p.Pro199Ser)
c.175C>T (p.Pro59Ser)
c.2106+230861G>A (n.2106+230861G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.184375568G>CCA88914588EIF2B5,THPOc.595C>G (p.Pro199Ala)
c.175C>G (p.Pro59Ala)
c.2106+230861G>C (n.2106+230861G>C)
 dbSNP
3g.184375568G=CA1425999016EIF2B5,THPOc.595C= (p.Pro199=)
c.175C= (p.Pro59=)
c.2106+230861G= (n.2106+230861G=)
3g.184375568G>TCA355463087EIF2B5,THPOc.595C>A (p.Pro199Thr)
c.175C>A (p.Pro59Thr)
c.2106+230861G>T (n.2106+230861G>T)
3g.184375570_184375571delCA2704883953EIF2B5,THPOc.594_595del (p.Pro199CysfsTer9)
c.174_175del (p.Pro59CysfsTer9)
c.2106+230863_2106+230864del (n.2106+230863_2106+230864del)
 dbSNP
3g.184375569T>ACA437172622EIF2B5,THPOc.594A>T (p.Thr198=)
c.174A>T (p.Thr58=)
c.2106+230862T>A (n.2106+230862T>A)
3g.184375569T>CCA437172624EIF2B5,THPOc.594A>G (p.Thr198=)
c.174A>G (p.Thr58=)
c.2106+230862T>C (n.2106+230862T>C)
3g.184375569T>GCA437172626EIF2B5,THPOc.594A>C (p.Thr198=)
c.174A>C (p.Thr58=)
c.2106+230862T>G (n.2106+230862T>G)
3g.184375570G>ACA2735028EIF2B5,THPOc.593C>T (p.Thr198Ile)
c.173C>T (p.Thr58Ile)
c.2106+230863G>A (n.2106+230863G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184375570G>CCA355463088EIF2B5,THPOc.593C>G (p.Thr198Arg)
c.173C>G (p.Thr58Arg)
c.2106+230863G>C (n.2106+230863G>C)
3g.184375570G=CA1425999017EIF2B5,THPOc.593C= (p.Thr198=)
c.173C= (p.Thr58=)
c.2106+230863G= (n.2106+230863G=)
3g.184375570G>TCA355463089EIF2B5,THPOc.593C>A (p.Thr198Lys)
c.173C>A (p.Thr58Lys)
c.2106+230863G>T (n.2106+230863G>T)
 gnomAD v4
3g.184375571T>ACA355463092EIF2B5,THPOc.592A>T (p.Thr198Ser)
c.172A>T (p.Thr58Ser)
c.2106+230864T>A (n.2106+230864T>A)
 dbSNP
3g.184375571T>CCA355463091EIF2B5,THPOc.592A>G (p.Thr198Ala)
c.172A>G (p.Thr58Ala)
c.2106+230864T>C (n.2106+230864T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184375571T>GCA355463090EIF2B5,THPOc.592A>C (p.Thr198Pro)
c.172A>C (p.Thr58Pro)
c.2106+230864T>G (n.2106+230864T>G)
3g.184375571T=CA1425999018EIF2B5,THPOc.592A= (p.Thr198=)
c.172A= (p.Thr58=)
c.2106+230864T= (n.2106+230864T=)
3g.184375572A=CA1425999019EIF2B5,THPOc.591T= (p.Pro197=)
c.171T= (p.Pro57=)
c.2106+230865A= (n.2106+230865A=)
3g.184375572A>CCA2735029EIF2B5,THPOc.591T>G (p.Pro197=)
c.171T>G (p.Pro57=)
c.2106+230865A>C (n.2106+230865A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184375572A>GCA437172639EIF2B5,THPOc.591T>C (p.Pro197=)
c.171T>C (p.Pro57=)
c.2106+230865A>G (n.2106+230865A>G)
3g.184375572A>TCA437172637EIF2B5,THPOc.591T>A (p.Pro197=)
c.171T>A (p.Pro57=)
c.2106+230865A>T (n.2106+230865A>T)
3g.184375573G>ACA355463093EIF2B5,THPOc.590C>T (p.Pro197Leu)
c.170C>T (p.Pro57Leu)
c.2106+230866G>A (n.2106+230866G>A)
 gnomAD v4
3g.184375573G>CCA355463094EIF2B5,THPOc.590C>G (p.Pro197Arg)
c.170C>G (p.Pro57Arg)
c.2106+230866G>C (n.2106+230866G>C)
3g.184375573G>TCA355463095EIF2B5,THPOc.590C>A (p.Pro197His)
c.170C>A (p.Pro57His)
c.2106+230866G>T (n.2106+230866G>T)
3g.184375574G>ACA355463096EIF2B5,THPOc.589C>T (p.Pro197Ser)
c.169C>T (p.Pro57Ser)
c.2106+230867G>A (n.2106+230867G>A)
 gnomAD v4
3g.184375574G>CCA355463097EIF2B5,THPOc.589C>G (p.Pro197Ala)
c.169C>G (p.Pro57Ala)
c.2106+230867G>C (n.2106+230867G>C)

Number of alleles fetched