| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209629739A>C | CA344592133 | LAMB3 | c.1130T>G (p.Ile377Ser) c.938T>G (p.Ile313Ser) | |
| 1 | g.209629739A>G | CA344592134 | LAMB3 | c.1130T>C (p.Ile377Thr) c.938T>C (p.Ile313Thr) | |
| 1 | g.209629739A>T | CA344592135 | LAMB3 | c.1130T>A (p.Ile377Asn) c.938T>A (p.Ile313Asn) | |
| 1 | g.209629740T>A | CA344592136 | LAMB3 | c.1129A>T (p.Ile377Phe) c.937A>T (p.Ile313Phe) | |
| 1 | g.209629740T>C | CA36758405 | LAMB3 | c.1129A>G (p.Ile377Val) c.937A>G (p.Ile313Val) | dbSNP |
| 1 | g.209629740T>G | CA344592137 | LAMB3 | c.1129A>C (p.Ile377Leu) c.937A>C (p.Ile313Leu) | |
| 1 | g.209629740T= | CA2484300761 | LAMB3 | c.1129A= (p.Ile377=) c.937A= (p.Ile313=) | |
| 1 | g.209629741G>A | CA423032196 | LAMB3 | c.1128C>T (p.Cys376=) c.936C>T (p.Cys312=) | gnomAD v4 |
| 1 | g.209629741G>C | CA344592138 | LAMB3 | c.1128C>G (p.Cys376Trp) c.936C>G (p.Cys312Trp) | |
| 1 | g.209629741G>T | CA344592139 | LAMB3 | c.1128C>A (p.Cys376Ter) c.936C>A (p.Cys312Ter) | |
| 1 | g.209629742C>A | CA344592140 | LAMB3 | c.1127G>T (p.Cys376Phe) c.935G>T (p.Cys312Phe) | |
| 1 | g.209629742C= | CA2484300767 | LAMB3 | c.1127G= (p.Cys376=) c.935G= (p.Cys312=) | |
| 1 | g.209629742C>G | CA344592141 | LAMB3 | c.1127G>C (p.Cys376Ser) c.935G>C (p.Cys312Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209629742C>T | CA344592142 | LAMB3 | c.1127G>A (p.Cys376Tyr) c.935G>A (p.Cys312Tyr) | dbSNP |
| 1 | g.209629743A= | CA2484300771 | LAMB3 | c.1126T= (p.Cys376=) c.934T= (p.Cys312=) | |
| 1 | g.209629743A>C | CA344592143 | LAMB3 | c.1126T>G (p.Cys376Gly) c.934T>G (p.Cys312Gly) | |
| 1 | g.209629743A>G | CA344592144 | LAMB3 | c.1126T>C (p.Cys376Arg) c.934T>C (p.Cys312Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629743A>T | CA344592145 | LAMB3 | c.1126T>A (p.Cys376Ser) c.934T>A (p.Cys312Ser) | |
| 1 | g.209629744G>A | CA423032197 | LAMB3 | c.1125C>T (p.Thr375=) c.933C>T (p.Thr311=) | |
| 1 | g.209629744G>C | CA423032198 | LAMB3 | c.1125C>G (p.Thr375=) c.933C>G (p.Thr311=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629744G= | CA2484300773 | LAMB3 | c.1125C= (p.Thr375=) c.933C= (p.Thr311=) | |
| 1 | g.209629744G>T | CA423032199 | LAMB3 | c.1125C>A (p.Thr375=) c.933C>A (p.Thr311=) | gnomAD v4 |
| 1 | g.209629745G>A | CA344592146 | LAMB3 | c.1124C>T (p.Thr375Ile) c.932C>T (p.Thr311Ile) | |
| 1 | g.209629745G>C | CA344592147 | LAMB3 | c.1124C>G (p.Thr375Ser) c.932C>G (p.Thr311Ser) | gnomAD v4 |
| 1 | g.209629745G= | CA1147133275 | LAMB3 | c.1124C= (p.Thr375=) c.932C= (p.Thr311=) | |
| 1 | g.209629745G>T | CA1375695 | LAMB3 | c.1124C>A (p.Thr375Asn) c.932C>A (p.Thr311Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629746T>A | CA344592148 | LAMB3 | c.1123A>T (p.Thr375Ser) c.931A>T (p.Thr311Ser) | |
| 1 | g.209629746T>C | CA344592149 | LAMB3 | c.1123A>G (p.Thr375Ala) c.931A>G (p.Thr311Ala) | |
| 1 | g.209629746T>G | CA344592150 | LAMB3 | c.1123A>C (p.Thr375Pro) c.931A>C (p.Thr311Pro) | gnomAD v4 |
| 1 | g.209629747C>A | CA344592152 | LAMB3 | c.1122G>T (p.Glu374Asp) c.930G>T (p.Glu310Asp) | dbSNP |
| 1 | g.209629747C= | CA2484300777 | LAMB3 | c.1122G= (p.Glu374=) c.930G= (p.Glu310=) | |
| 1 | g.209629747C>G | CA344592151 | LAMB3 | c.1122G>C (p.Glu374Asp) c.930G>C (p.Glu310Asp) | |
| 1 | g.209629747C>T | CA423032201 | LAMB3 | c.1122G>A (p.Glu374=) c.930G>A (p.Glu310=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629748T>A | CA344592153 | LAMB3 | c.1121A>T (p.Glu374Val) c.929A>T (p.Glu310Val) | |
| 1 | g.209629748T>C | CA344592154 | LAMB3 | c.1121A>G (p.Glu374Gly) c.929A>G (p.Glu310Gly) | |
| 1 | g.209629748T>G | CA344592155 | LAMB3 | c.1121A>C (p.Glu374Ala) c.929A>C (p.Glu310Ala) | |
| 1 | g.209629749C>A | CA344592156 | LAMB3 | c.1120G>T (p.Glu374Ter) c.928G>T (p.Glu310Ter) | |
| 1 | g.209629749C>G | CA344592157 | LAMB3 | c.1120G>C (p.Glu374Gln) c.928G>C (p.Glu310Gln) | |
| 1 | g.209629749C>T | CA344592158 | LAMB3 | c.1120G>A (p.Glu374Lys) c.928G>A (p.Glu310Lys) | |
| 1 | g.209629750C>A | CA344592159 | LAMB3 | c.1119G>T (p.Gln373His) c.927G>T (p.Gln309His) | |
| 1 | g.209629750C= | CA2484300780 | LAMB3 | c.1119G= (p.Gln373=) c.927G= (p.Gln309=) | |
| 1 | g.209629750C>G | CA344592160 | LAMB3 | c.1119G>C (p.Gln373His) c.927G>C (p.Gln309His) | |
| 1 | g.209629750C>T | CA1375696 | LAMB3 | c.1119G>A (p.Gln373=) c.927G>A (p.Gln309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629751T>A | CA344592161 | LAMB3 | c.1118A>T (p.Gln373Leu) c.926A>T (p.Gln309Leu) | |
| 1 | g.209629751T>C | CA344592162 | LAMB3 | c.1118A>G (p.Gln373Arg) c.926A>G (p.Gln309Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629751T>G | CA344592163 | LAMB3 | c.1118A>C (p.Gln373Pro) c.926A>C (p.Gln309Pro) | gnomAD v4 |
| 1 | g.209629751T= | CA2484300784 | LAMB3 | c.1118A= (p.Gln373=) c.926A= (p.Gln309=) | |
| 1 | g.209629752G>A | CA16040695 | LAMB3 | c.1117C>T (p.Gln373Ter) c.925C>T (p.Gln309Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629752G>C | CA344592165 | LAMB3 | c.1117C>G (p.Gln373Glu) c.925C>G (p.Gln309Glu) | |
| 1 | g.209629752G= | CA2484300785 | LAMB3 | c.1117C= (p.Gln373=) c.925C= (p.Gln309=) |