Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209634481G>A | CA344595724 | LAMB3 | c.530C>T (p.Pro177Leu) c.373-1348C>T (n.373-1348C>T) | gnomAD v4 |
1 | g.209634481G>C | CA344595726 | LAMB3 | c.530C>G (p.Pro177Arg) c.373-1348C>G (n.373-1348C>G) | |
1 | g.209634481G>T | CA344595728 | LAMB3 | c.530C>A (p.Pro177His) c.373-1348C>A (n.373-1348C>A) | gnomAD v4 |
1 | g.209634482G>A | CA344595730 | LAMB3 | c.529C>T (p.Pro177Ser) c.373-1349C>T (n.373-1349C>T) | |
1 | g.209634482G>C | CA344595732 | LAMB3 | c.529C>G (p.Pro177Ala) c.373-1349C>G (n.373-1349C>G) | |
1 | g.209634482G>T | CA344595733 | LAMB3 | c.529C>A (p.Pro177Thr) c.373-1349C>A (n.373-1349C>A) | gnomAD v4 |
1 | g.209634482_209634483delinsA | CA2580061971 | LAMB3 | c.528_529delinsT (p.Pro177LeufsTer8) c.373-1350_373-1349delinsT (n.373-1350_373-1349delinsT) | ClinVar |
1 | g.209634483C>A | CA423032794 | LAMB3 | c.528G>T (p.Leu176=) c.373-1350G>T (n.373-1350G>T) | COSMIC |
1 | g.209634483C>G | CA423032795 | LAMB3 | c.528G>C (p.Leu176=) c.373-1350G>C (n.373-1350G>C) | |
1 | g.209634483C>T | CA423032796 | LAMB3 | c.528G>A (p.Leu176=) c.373-1350G>A (n.373-1350G>A) | gnomAD v4 |
1 | g.209634484A= | CA2484302736 | LAMB3 | c.527T= (p.Leu176=) c.373-1351T= (n.373-1351T=) | |
1 | g.209634484A>C | CA344595735 | LAMB3 | c.527T>G (p.Leu176Arg) c.373-1351T>G (n.373-1351T>G) | |
1 | g.209634484A>G | CA344595737 | LAMB3 | c.527T>C (p.Leu176Pro) c.373-1351T>C (n.373-1351T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209634484A>T | CA344595738 | LAMB3 | c.527T>A (p.Leu176Gln) c.373-1351T>A (n.373-1351T>A) | |
1 | g.209634485G>A | CA423032797 | LAMB3 | c.526C>T (p.Leu176=) c.373-1352C>T (n.373-1352C>T) | |
1 | g.209634485G>C | CA344595740 | LAMB3 | c.526C>G (p.Leu176Val) c.373-1352C>G (n.373-1352C>G) | dbSNP |
1 | g.209634485G= | CA2484302737 | LAMB3 | c.526C= (p.Leu176=) c.373-1352C= (n.373-1352C=) | |
1 | g.209634485G>T | CA344595741 | LAMB3 | c.526C>A (p.Leu176Met) c.373-1352C>A (n.373-1352C>A) | |
1 | g.209634486G>A | CA423032800 | LAMB3 | c.525C>T (p.Ser175=) c.373-1353C>T (n.373-1353C>T) | ClinVar gnomAD v4 |
1 | g.209634486G>C | CA423032799 | LAMB3 | c.525C>G (p.Ser175=) c.373-1353C>G (n.373-1353C>G) | |
1 | g.209634486G>T | CA423032798 | LAMB3 | c.525C>A (p.Ser175=) c.373-1353C>A (n.373-1353C>A) | |
1 | g.209634487G>A | CA344595746 | LAMB3 | c.524C>T (p.Ser175Phe) c.373-1354C>T (n.373-1354C>T) | gnomAD v4 |
1 | g.209634487G>C | CA344595747 | LAMB3 | c.524C>G (p.Ser175Cys) c.373-1354C>G (n.373-1354C>G) | |
1 | g.209634487G>T | CA344595745 | LAMB3 | c.524C>A (p.Ser175Tyr) c.373-1354C>A (n.373-1354C>A) | |
1 | g.209634488A>C | CA344595749 | LAMB3 | c.523T>G (p.Ser175Ala) c.373-1355T>G (n.373-1355T>G) | |
1 | g.209634488A>G | CA344595750 | LAMB3 | c.523T>C (p.Ser175Pro) c.373-1355T>C (n.373-1355T>C) | |
1 | g.209634488A>T | CA344595752 | LAMB3 | c.523T>A (p.Ser175Thr) c.373-1355T>A (n.373-1355T>A) | |
1 | g.209634489C>A | CA344595754 | LAMB3 | c.522G>T (p.Gln174His) c.373-1356G>T (n.373-1356G>T) | |
1 | g.209634489C>G | CA344595756 | LAMB3 | c.522G>C (p.Gln174His) c.373-1356G>C (n.373-1356G>C) | |
1 | g.209634489C>T | CA423032801 | LAMB3 | c.522G>A (p.Gln174=) c.373-1356G>A (n.373-1356G>A) | |
1 | g.209634490T>A | CA1375944 | LAMB3 | c.521A>T (p.Gln174Leu) c.373-1357A>T (n.373-1357A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209634490T>C | CA1375945 | LAMB3 | c.521A>G (p.Gln174Arg) c.373-1357A>G (n.373-1357A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209634490T>G | CA344595759 | LAMB3 | c.521A>C (p.Gln174Pro) c.373-1357A>C (n.373-1357A>C) | |
1 | g.209634490T= | CA2484302738 | LAMB3 | c.521A= (p.Gln174=) c.373-1357A= (n.373-1357A=) | |
1 | g.209634491G>A | CA1375946 | LAMB3 | c.520C>T (p.Gln174Ter) c.373-1358C>T (n.373-1358C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209634491G>C | CA344595762 | LAMB3 | c.520C>G (p.Gln174Glu) c.373-1358C>G (n.373-1358C>G) | |
1 | g.209634491G= | CA2484302739 | LAMB3 | c.520C= (p.Gln174=) c.373-1358C= (n.373-1358C=) | |
1 | g.209634491G>T | CA344595763 | LAMB3 | c.520C>A (p.Gln174Lys) c.373-1358C>A (n.373-1358C>A) | |
1 | g.209634492G>A | CA423032802 | LAMB3 | c.519C>T (p.Cys173=) c.373-1359C>T (n.373-1359C>T) | |
1 | g.209634492G>C | CA344595765 | LAMB3 | c.519C>G (p.Cys173Trp) c.373-1359C>G (n.373-1359C>G) | |
1 | g.209634492G= | CA2484302740 | LAMB3 | c.519C= (p.Cys173=) c.373-1359C= (n.373-1359C=) | |
1 | g.209634492G>T | CA344595766 | LAMB3 | c.519C>A (p.Cys173Ter) c.373-1359C>A (n.373-1359C>A) | ClinVar dbSNP |
1 | g.209634493C>A | CA344595771 | LAMB3 | c.518G>T (p.Cys173Phe) c.373-1360G>T (n.373-1360G>T) | |
1 | g.209634493C= | CA2484302741 | LAMB3 | c.518G= (p.Cys173=) c.373-1360G= (n.373-1360G=) | |
1 | g.209634493C>G | CA344595769 | LAMB3 | c.518G>C (p.Cys173Ser) c.373-1360G>C (n.373-1360G>C) | |
1 | g.209634493C>T | CA344595770 | LAMB3 | c.518G>A (p.Cys173Tyr) c.373-1360G>A (n.373-1360G>A) | dbSNP |
1 | g.209634494A= | CA2484302742 | LAMB3 | c.517T= (p.Cys173=) c.373-1361T= (n.373-1361T=) | |
1 | g.209634494A>C | CA344595772 | LAMB3 | c.517T>G (p.Cys173Gly) c.373-1361T>G (n.373-1361T>G) | dbSNP |
1 | g.209634494A>G | CA344595773 | LAMB3 | c.517T>C (p.Cys173Arg) c.373-1361T>C (n.373-1361T>C) | |
1 | g.209634494A>T | CA344595774 | LAMB3 | c.517T>A (p.Cys173Ser) c.373-1361T>A (n.373-1361T>A) |