Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.49130234G>A | CA2394665 | LAMB2 | c.1222C>T (p.Arg408Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.49130234G>C | CA352742741 | LAMB2 | c.1222C>G (p.Arg408Gly) | gnomAD v4 |
3 | g.49130234G= | CA1363342438 | LAMB2 | c.1222C= (p.Arg408=) | |
3 | g.49130234G>T | CA352742742 | LAMB2 | c.1222C>A (p.Arg408Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.49130235G>A | CA433834992 | LAMB2 | c.1221C>T (p.Cys407=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.49130235G>C | CA352742745 | LAMB2 | c.1221C>G (p.Cys407Trp) | |
3 | g.49130235G= | CA1363342439 | LAMB2 | c.1221C= (p.Cys407=) | |
3 | g.49130235G>T | CA352742746 | LAMB2 | c.1221C>A (p.Cys407Ter) | dbSNP COSMIC |
3 | g.49130236C>A | CA352742750 | LAMB2 | c.1220G>T (p.Cys407Phe) | |
3 | g.49130236C>G | CA352742752 | LAMB2 | c.1220G>C (p.Cys407Ser) | |
3 | g.49130236C>T | CA352742759 | LAMB2 | c.1220G>A (p.Cys407Tyr) | |
3 | g.49130237A>C | CA352742765 | LAMB2 | c.1219T>G (p.Cys407Gly) | |
3 | g.49130237A>G | CA352742762 | LAMB2 | c.1219T>C (p.Cys407Arg) | |
3 | g.49130237A>T | CA352742764 | LAMB2 | c.1219T>A (p.Cys407Ser) | |
3 | g.49130237_49130239del | CA2702729340 | LAMB2 | c.1217_1219del (p.Val406_Cys407delinsGly) | dbSNP |
3 | g.49130238C>A | CA433834997 | LAMB2 | c.1218G>T (p.Val406=) | |
3 | g.49130238C= | CA1363342440 | LAMB2 | c.1218G= (p.Val406=) | |
3 | g.49130238C>G | CA433834999 | LAMB2 | c.1218G>C (p.Val406=) | |
3 | g.49130238C>T | CA433835001 | LAMB2 | c.1218G>A (p.Val406=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49130239A= | CA1363342441 | LAMB2 | c.1217T= (p.Val406=) | |
3 | g.49130239A>C | CA352742768 | LAMB2 | c.1217T>G (p.Val406Gly) | |
3 | g.49130239A>G | CA352742777 | LAMB2 | c.1217T>C (p.Val406Ala) | dbSNP gnomAD v4 |
3 | g.49130239A>T | CA352742780 | LAMB2 | c.1217T>A (p.Val406Glu) | |
3 | g.49130240C>A | CA352742783 | LAMB2 | c.1216G>T (p.Val406Leu) | |
3 | g.49130240C= | CA1363342442 | LAMB2 | c.1216G= (p.Val406=) | |
3 | g.49130240C>G | CA2394666 | LAMB2 | c.1216G>C (p.Val406Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.49130240C>T | CA352742787 | LAMB2 | c.1216G>A (p.Val406Met) | dbSNP |
3 | g.49130241A>C | CA433835008 | LAMB2 | c.1215T>G (p.Ala405=) | |
3 | g.49130241A>G | CA433835009 | LAMB2 | c.1215T>C (p.Ala405=) | |
3 | g.49130241A>T | CA433835010 | LAMB2 | c.1215T>A (p.Ala405=) | |
3 | g.49130242G>A | CA352742789 | LAMB2 | c.1214C>T (p.Ala405Val) | gnomAD v4 |
3 | g.49130242G>C | CA352742792 | LAMB2 | c.1214C>G (p.Ala405Gly) | |
3 | g.49130242G>T | CA352742795 | LAMB2 | c.1214C>A (p.Ala405Asp) | |
3 | g.49130243C>A | CA352742798 | LAMB2 | c.1213G>T (p.Ala405Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49130243C= | CA1363342443 | LAMB2 | c.1213G= (p.Ala405=) | |
3 | g.49130243C>G | CA352742801 | LAMB2 | c.1213G>C (p.Ala405Pro) | |
3 | g.49130243C>T | CA352742803 | LAMB2 | c.1213G>A (p.Ala405Thr) | |
3 | g.49130244C>A | CA433835017 | LAMB2 | c.1212G>T (p.Pro404=) | gnomAD v4 |
3 | g.49130244C= | CA1363342444 | LAMB2 | c.1212G= (p.Pro404=) | |
3 | g.49130244C>G | CA74487364 | LAMB2 | c.1212G>C (p.Pro404=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.49130244C>T | CA2394667 | LAMB2 | c.1212G>A (p.Pro404=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.49130244_49130245delinsCG | CA1363342445 | LAMB2 | c.1211_1212delinsCG (p.Pro404=) | |
3 | g.49130245G>A | CA2394668 | LAMB2 | c.1211C>T (p.Pro404Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49130245G>C | CA352742809 | LAMB2 | c.1211C>G (p.Pro404Arg) | |
3 | g.49130245G= | CA1363342447 | LAMB2 | c.1211C= (p.Pro404=) | |
3 | g.49130245G>T | CA352742813 | LAMB2 | c.1211C>A (p.Pro404Gln) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49130246del | CA1363342446 | LAMB2 | c.1211del (p.Pro404ArgfsTer?) | dbSNP |
3 | g.49130245_49130248del | CA2702729408 | LAMB2 | c.1208_1211del (p.Asp403GlyfsTer?) | dbSNP |
3 | g.49130246G>A | CA352742819 | LAMB2 | c.1210C>T (p.Pro404Ser) | |
3 | g.49130246G>C | CA352742821 | LAMB2 | c.1210C>G (p.Pro404Ala) |