Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209633102C>A | CA344594930 | LAMB3 | c.596G>T (p.Gly199Val) c.404G>T (p.Gly135Val) | |
1 | g.209633102C= | CA1141581388 | LAMB3 | c.596G= (p.Gly199=) c.404G= (p.Gly135=) | |
1 | g.209633102C>G | CA257285 | LAMB3 | c.596G>C (p.Gly199Ala) c.404G>C (p.Gly135Ala) | ClinVar dbSNP gnomAD v4 |
1 | g.209633102C>T | CA344594929 | LAMB3 | c.596G>A (p.Gly199Glu) c.404G>A (p.Gly135Glu) | COSMIC |
1 | g.209633103C>A | CA344594931 | LAMB3 | c.595G>T (p.Gly199Trp) c.403G>T (p.Gly135Trp) | gnomAD v4 |
1 | g.209633103C= | CA2484302160 | LAMB3 | c.595G= (p.Gly199=) c.403G= (p.Gly135=) | |
1 | g.209633103C>G | CA344594933 | LAMB3 | c.595G>C (p.Gly199Arg) c.403G>C (p.Gly135Arg) | |
1 | g.209633103C>T | CA344594932 | LAMB3 | c.595G>A (p.Gly199Arg) c.403G>A (p.Gly135Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209633104A= | CA2484302161 | LAMB3 | c.594T= (p.Ser198=) c.402T= (p.Ser134=) | |
1 | g.209633104A>C | CA423032738 | LAMB3 | c.594T>G (p.Ser198=) c.402T>G (p.Ser134=) | |
1 | g.209633104A>G | CA423032739 | LAMB3 | c.594T>C (p.Ser198=) c.402T>C (p.Ser134=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209633104A>T | CA423032740 | LAMB3 | c.594T>A (p.Ser198=) c.402T>A (p.Ser134=) | dbSNP |
1 | g.209633105G>A | CA344594934 | LAMB3 | c.593C>T (p.Ser198Phe) c.401C>T (p.Ser134Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209633105G>C | CA344594935 | LAMB3 | c.593C>G (p.Ser198Cys) c.401C>G (p.Ser134Cys) | gnomAD v4 |
1 | g.209633105G= | CA2484302162 | LAMB3 | c.593C= (p.Ser198=) c.401C= (p.Ser134=) | |
1 | g.209633105G>T | CA344594936 | LAMB3 | c.593C>A (p.Ser198Tyr) c.401C>A (p.Ser134Tyr) | |
1 | g.209633106A= | CA2484302163 | LAMB3 | c.592T= (p.Ser198=) c.400T= (p.Ser134=) | |
1 | g.209633106A>C | CA344594937 | LAMB3 | c.592T>G (p.Ser198Ala) c.400T>G (p.Ser134Ala) | |
1 | g.209633106A>G | CA344594938 | LAMB3 | c.592T>C (p.Ser198Pro) c.400T>C (p.Ser134Pro) | dbSNP |
1 | g.209633106A>T | CA344594939 | LAMB3 | c.592T>A (p.Ser198Thr) c.400T>A (p.Ser134Thr) | |
1 | g.209633107C>A | CA423032741 | LAMB3 | c.591G>T (p.Val197=) c.399G>T (p.Val133=) | |
1 | g.209633107C= | CA2484302164 | LAMB3 | c.591G= (p.Val197=) c.399G= (p.Val133=) | |
1 | g.209633107C>G | CA423032742 | LAMB3 | c.591G>C (p.Val197=) c.399G>C (p.Val133=) | ClinVar gnomAD v4 |
1 | g.209633107C>T | CA423032743 | LAMB3 | c.591G>A (p.Val197=) c.399G>A (p.Val133=) | dbSNP |
1 | g.209633108A= | CA2484302165 | LAMB3 | c.590T= (p.Val197=) c.398T= (p.Val133=) | |
1 | g.209633108A>C | CA344594940 | LAMB3 | c.590T>G (p.Val197Gly) c.398T>G (p.Val133Gly) | |
1 | g.209633108A>G | CA344594941 | LAMB3 | c.590T>C (p.Val197Ala) c.398T>C (p.Val133Ala) | dbSNP |
1 | g.209633108A>T | CA1375906 | LAMB3 | c.590T>A (p.Val197Glu) c.398T>A (p.Val133Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209633109C>A | CA344594942 | LAMB3 | c.589G>T (p.Val197Leu) c.397G>T (p.Val133Leu) | |
1 | g.209633109C>G | CA344594943 | LAMB3 | c.589G>C (p.Val197Leu) c.397G>C (p.Val133Leu) | |
1 | g.209633109C>T | CA344594944 | LAMB3 | c.589G>A (p.Val197Met) c.397G>A (p.Val133Met) | |
1 | g.209633110T>A | CA344594945 | LAMB3 | c.588A>T (p.Leu196Phe) c.396A>T (p.Leu132Phe) | |
1 | g.209633110T>C | CA423032744 | LAMB3 | c.588A>G (p.Leu196=) c.396A>G (p.Leu132=) | |
1 | g.209633110T>G | CA344594946 | LAMB3 | c.588A>C (p.Leu196Phe) c.396A>C (p.Leu132Phe) | |
1 | g.209633111A>C | CA344594947 | LAMB3 | c.587T>G (p.Leu196Ter) c.395T>G (p.Leu132Ter) | gnomAD v4 |
1 | g.209633111A>G | CA344594948 | LAMB3 | c.587T>C (p.Leu196Ser) c.395T>C (p.Leu132Ser) | |
1 | g.209633111A>T | CA344594949 | LAMB3 | c.587T>A (p.Leu196Ter) c.395T>A (p.Leu132Ter) | |
1 | g.209633113del | CA2574124601 | LAMB3 | c.587del (p.Leu196Ter) c.395del (p.Leu132Ter) | |
1 | g.209633112A>C | CA344594950 | LAMB3 | c.586T>G (p.Leu196Val) c.394T>G (p.Leu132Val) | |
1 | g.209633112A>G | CA423032745 | LAMB3 | c.586T>C (p.Leu196=) c.394T>C (p.Leu132=) | |
1 | g.209633112A>T | CA344594951 | LAMB3 | c.586T>A (p.Leu196Ile) c.394T>A (p.Leu132Ile) | |
1 | g.209633113A>C | CA344594952 | LAMB3 | c.585T>G (p.Asp195Glu) c.393T>G (p.Asp131Glu) | |
1 | g.209633113A>G | CA423032746 | LAMB3 | c.585T>C (p.Asp195=) c.393T>C (p.Asp131=) | |
1 | g.209633113A>T | CA344594953 | LAMB3 | c.585T>A (p.Asp195Glu) c.393T>A (p.Asp131Glu) | |
1 | g.209633114T>A | CA344594954 | LAMB3 | c.584A>T (p.Asp195Val) c.392A>T (p.Asp131Val) | |
1 | g.209633114T>C | CA344594955 | LAMB3 | c.584A>G (p.Asp195Gly) c.392A>G (p.Asp131Gly) | gnomAD v4 |
1 | g.209633114T>G | CA344594956 | LAMB3 | c.584A>C (p.Asp195Ala) c.392A>C (p.Asp131Ala) | |
1 | g.209633115C>A | CA36759909 | LAMB3 | c.583G>T (p.Asp195Tyr) c.391G>T (p.Asp131Tyr) | dbSNP gnomAD v4 |
1 | g.209633115C= | CA1149051270 | LAMB3 | c.583G= (p.Asp195=) c.391G= (p.Asp131=) | |
1 | g.209633115C>G | CA344594957 | LAMB3 | c.583G>C (p.Asp195His) c.391G>C (p.Asp131His) |