Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209633102C>ACA344594930LAMB3c.596G>T (p.Gly199Val)
c.404G>T (p.Gly135Val)
1g.209633102C=CA1141581388LAMB3c.596G= (p.Gly199=)
c.404G= (p.Gly135=)
1g.209633102C>GCA257285LAMB3c.596G>C (p.Gly199Ala)
c.404G>C (p.Gly135Ala)
ClinVar dbSNP gnomAD v4
1g.209633102C>TCA344594929LAMB3c.596G>A (p.Gly199Glu)
c.404G>A (p.Gly135Glu)
COSMIC
1g.209633103C>ACA344594931LAMB3c.595G>T (p.Gly199Trp)
c.403G>T (p.Gly135Trp)
gnomAD v4
1g.209633103C=CA2484302160LAMB3c.595G= (p.Gly199=)
c.403G= (p.Gly135=)
1g.209633103C>GCA344594933LAMB3c.595G>C (p.Gly199Arg)
c.403G>C (p.Gly135Arg)
1g.209633103C>TCA344594932LAMB3c.595G>A (p.Gly199Arg)
c.403G>A (p.Gly135Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209633104A=CA2484302161LAMB3c.594T= (p.Ser198=)
c.402T= (p.Ser134=)
1g.209633104A>CCA423032738LAMB3c.594T>G (p.Ser198=)
c.402T>G (p.Ser134=)
1g.209633104A>GCA423032739LAMB3c.594T>C (p.Ser198=)
c.402T>C (p.Ser134=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209633104A>TCA423032740LAMB3c.594T>A (p.Ser198=)
c.402T>A (p.Ser134=)
dbSNP
1g.209633105G>ACA344594934LAMB3c.593C>T (p.Ser198Phe)
c.401C>T (p.Ser134Phe)
dbSNP gnomAD v2 gnomAD v4
1g.209633105G>CCA344594935LAMB3c.593C>G (p.Ser198Cys)
c.401C>G (p.Ser134Cys)
gnomAD v4
1g.209633105G=CA2484302162LAMB3c.593C= (p.Ser198=)
c.401C= (p.Ser134=)
1g.209633105G>TCA344594936LAMB3c.593C>A (p.Ser198Tyr)
c.401C>A (p.Ser134Tyr)
1g.209633106A=CA2484302163LAMB3c.592T= (p.Ser198=)
c.400T= (p.Ser134=)
1g.209633106A>CCA344594937LAMB3c.592T>G (p.Ser198Ala)
c.400T>G (p.Ser134Ala)
1g.209633106A>GCA344594938LAMB3c.592T>C (p.Ser198Pro)
c.400T>C (p.Ser134Pro)
dbSNP
1g.209633106A>TCA344594939LAMB3c.592T>A (p.Ser198Thr)
c.400T>A (p.Ser134Thr)
1g.209633107C>ACA423032741LAMB3c.591G>T (p.Val197=)
c.399G>T (p.Val133=)
1g.209633107C=CA2484302164LAMB3c.591G= (p.Val197=)
c.399G= (p.Val133=)
1g.209633107C>GCA423032742LAMB3c.591G>C (p.Val197=)
c.399G>C (p.Val133=)
ClinVar gnomAD v4
1g.209633107C>TCA423032743LAMB3c.591G>A (p.Val197=)
c.399G>A (p.Val133=)
dbSNP
1g.209633108A=CA2484302165LAMB3c.590T= (p.Val197=)
c.398T= (p.Val133=)
1g.209633108A>CCA344594940LAMB3c.590T>G (p.Val197Gly)
c.398T>G (p.Val133Gly)
1g.209633108A>GCA344594941LAMB3c.590T>C (p.Val197Ala)
c.398T>C (p.Val133Ala)
dbSNP
1g.209633108A>TCA1375906LAMB3c.590T>A (p.Val197Glu)
c.398T>A (p.Val133Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209633109C>ACA344594942LAMB3c.589G>T (p.Val197Leu)
c.397G>T (p.Val133Leu)
1g.209633109C>GCA344594943LAMB3c.589G>C (p.Val197Leu)
c.397G>C (p.Val133Leu)
1g.209633109C>TCA344594944LAMB3c.589G>A (p.Val197Met)
c.397G>A (p.Val133Met)
1g.209633110T>ACA344594945LAMB3c.588A>T (p.Leu196Phe)
c.396A>T (p.Leu132Phe)
1g.209633110T>CCA423032744LAMB3c.588A>G (p.Leu196=)
c.396A>G (p.Leu132=)
1g.209633110T>GCA344594946LAMB3c.588A>C (p.Leu196Phe)
c.396A>C (p.Leu132Phe)
1g.209633111A>CCA344594947LAMB3c.587T>G (p.Leu196Ter)
c.395T>G (p.Leu132Ter)
gnomAD v4
1g.209633111A>GCA344594948LAMB3c.587T>C (p.Leu196Ser)
c.395T>C (p.Leu132Ser)
1g.209633111A>TCA344594949LAMB3c.587T>A (p.Leu196Ter)
c.395T>A (p.Leu132Ter)
1g.209633113delCA2574124601LAMB3c.587del (p.Leu196Ter)
c.395del (p.Leu132Ter)
1g.209633112A>CCA344594950LAMB3c.586T>G (p.Leu196Val)
c.394T>G (p.Leu132Val)
1g.209633112A>GCA423032745LAMB3c.586T>C (p.Leu196=)
c.394T>C (p.Leu132=)
1g.209633112A>TCA344594951LAMB3c.586T>A (p.Leu196Ile)
c.394T>A (p.Leu132Ile)
1g.209633113A>CCA344594952LAMB3c.585T>G (p.Asp195Glu)
c.393T>G (p.Asp131Glu)
1g.209633113A>GCA423032746LAMB3c.585T>C (p.Asp195=)
c.393T>C (p.Asp131=)
1g.209633113A>TCA344594953LAMB3c.585T>A (p.Asp195Glu)
c.393T>A (p.Asp131Glu)
1g.209633114T>ACA344594954LAMB3c.584A>T (p.Asp195Val)
c.392A>T (p.Asp131Val)
1g.209633114T>CCA344594955LAMB3c.584A>G (p.Asp195Gly)
c.392A>G (p.Asp131Gly)
gnomAD v4
1g.209633114T>GCA344594956LAMB3c.584A>C (p.Asp195Ala)
c.392A>C (p.Asp131Ala)
1g.209633115C>ACA36759909LAMB3c.583G>T (p.Asp195Tyr)
c.391G>T (p.Asp131Tyr)
dbSNP gnomAD v4
1g.209633115C=CA1149051270LAMB3c.583G= (p.Asp195=)
c.391G= (p.Asp131=)
1g.209633115C>GCA344594957LAMB3c.583G>C (p.Asp195His)
c.391G>C (p.Asp131His)

Number of alleles fetched