Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209629791G>A | CA423032252 | LAMB3 | c.1078C>T (p.Leu360=) c.886C>T (p.Leu296=) | COSMIC |
1 | g.209629791G>C | CA344592308 | LAMB3 | c.1078C>G (p.Leu360Val) c.886C>G (p.Leu296Val) | |
1 | g.209629791G>T | CA344592310 | LAMB3 | c.1078C>A (p.Leu360Met) c.886C>A (p.Leu296Met) | |
1 | g.209629792C>A | CA344592312 | LAMB3 | c.1077G>T (p.Gln359His) c.885G>T (p.Gln295His) | |
1 | g.209629792C= | CA2484300828 | LAMB3 | c.1077G= (p.Gln359=) c.885G= (p.Gln295=) | |
1 | g.209629792C>G | CA344592314 | LAMB3 | c.1077G>C (p.Gln359His) c.885G>C (p.Gln295His) | |
1 | g.209629792C>T | CA423032253 | LAMB3 | c.1077G>A (p.Gln359=) c.885G>A (p.Gln295=) | dbSNP |
1 | g.209629793T>A | CA36758443 | LAMB3 | c.1076A>T (p.Gln359Leu) c.884A>T (p.Gln295Leu) | dbSNP gnomAD v4 |
1 | g.209629793T>C | CA344592319 | LAMB3 | c.1076A>G (p.Gln359Arg) c.884A>G (p.Gln295Arg) | |
1 | g.209629793T>G | CA344592321 | LAMB3 | c.1076A>C (p.Gln359Pro) c.884A>C (p.Gln295Pro) | |
1 | g.209629793T= | CA2484300829 | LAMB3 | c.1076A= (p.Gln359=) c.884A= (p.Gln295=) | |
1 | g.209629794G>A | CA344592324 | LAMB3 | c.1075C>T (p.Gln359Ter) c.883C>T (p.Gln295Ter) | ClinVar dbSNP |
1 | g.209629794G>C | CA344592327 | LAMB3 | c.1075C>G (p.Gln359Glu) c.883C>G (p.Gln295Glu) | |
1 | g.209629794G= | CA2484300830 | LAMB3 | c.1075C= (p.Gln359=) c.883C= (p.Gln295=) | |
1 | g.209629794G>T | CA344592328 | LAMB3 | c.1075C>A (p.Gln359Lys) c.883C>A (p.Gln295Lys) | |
1 | g.209629795A>C | CA344592331 | LAMB3 | c.1074T>G (p.Cys358Trp) c.882T>G (p.Cys294Trp) | |
1 | g.209629795A>G | CA423032254 | LAMB3 | c.1074T>C (p.Cys358=) c.882T>C (p.Cys294=) | |
1 | g.209629795A>T | CA344592334 | LAMB3 | c.1074T>A (p.Cys358Ter) c.882T>A (p.Cys294Ter) | |
1 | g.209629796C>A | CA344592339 | LAMB3 | c.1073G>T (p.Cys358Phe) c.881G>T (p.Cys294Phe) | |
1 | g.209629796C>G | CA344592341 | LAMB3 | c.1073G>C (p.Cys358Ser) c.881G>C (p.Cys294Ser) | |
1 | g.209629796C>T | CA344592336 | LAMB3 | c.1073G>A (p.Cys358Tyr) c.881G>A (p.Cys294Tyr) | |
1 | g.209629797A= | CA2484300831 | LAMB3 | c.1072T= (p.Cys358=) c.880T= (p.Cys294=) | |
1 | g.209629797A>C | CA344592345 | LAMB3 | c.1072T>G (p.Cys358Gly) c.880T>G (p.Cys294Gly) | |
1 | g.209629797A>G | CA1375707 | LAMB3 | c.1072T>C (p.Cys358Arg) c.880T>C (p.Cys294Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629797A>T | CA344592349 | LAMB3 | c.1072T>A (p.Cys358Ser) c.880T>A (p.Cys294Ser) | |
1 | g.209629798C>A | CA423032255 | LAMB3 | c.1071G>T (p.Arg357=) c.879G>T (p.Arg293=) | |
1 | g.209629798C>G | CA423032256 | LAMB3 | c.1071G>C (p.Arg357=) c.879G>C (p.Arg293=) | gnomAD v4 |
1 | g.209629798C>T | CA423032257 | LAMB3 | c.1071G>A (p.Arg357=) c.879G>A (p.Arg293=) | gnomAD v4 |
1 | g.209629799C>A | CA36758446 | LAMB3 | c.1070G>T (p.Arg357Leu) c.878G>T (p.Arg293Leu) | dbSNP gnomAD v4 |
1 | g.209629799C= | CA1142297833 | LAMB3 | c.1070G= (p.Arg357=) c.878G= (p.Arg293=) | |
1 | g.209629799C>G | CA344592354 | LAMB3 | c.1070G>C (p.Arg357Pro) c.878G>C (p.Arg293Pro) | |
1 | g.209629799C>T | CA344592356 | LAMB3 | c.1070G>A (p.Arg357Gln) c.878G>A (p.Arg293Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629800G>A | CA1375708 | LAMB3 | c.1069C>T (p.Arg357Trp) c.877C>T (p.Arg293Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629800G>C | CA344592365 | LAMB3 | c.1069C>G (p.Arg357Gly) c.877C>G (p.Arg293Gly) | |
1 | g.209629800G= | CA1145824018 | LAMB3 | c.1069C= (p.Arg357=) c.877C= (p.Arg293=) | |
1 | g.209629800G>T | CA423032258 | LAMB3 | c.1069C>A (p.Arg357=) c.877C>A (p.Arg293=) | |
1 | g.209629801C>A | CA344592367 | LAMB3 | c.1068G>T (p.Glu356Asp) c.876G>T (p.Glu292Asp) | |
1 | g.209629801C= | CA2484300832 | LAMB3 | c.1068G= (p.Glu356=) c.876G= (p.Glu292=) | |
1 | g.209629801C>G | CA344592368 | LAMB3 | c.1068G>C (p.Glu356Asp) c.876G>C (p.Glu292Asp) | |
1 | g.209629801C>T | CA36758457 | LAMB3 | c.1068G>A (p.Glu356=) c.876G>A (p.Glu292=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629802T>A | CA344592371 | LAMB3 | c.1067A>T (p.Glu356Val) c.875A>T (p.Glu292Val) | |
1 | g.209629802T>C | CA344592373 | LAMB3 | c.1067A>G (p.Glu356Gly) c.875A>G (p.Glu292Gly) | gnomAD v4 |
1 | g.209629802T>G | CA344592375 | LAMB3 | c.1067A>C (p.Glu356Ala) c.875A>C (p.Glu292Ala) | |
1 | g.209629802_209629804del | CA913072634 | LAMB3 | c.1065_1067del (p.Cys355_Glu356delinsTrp) c.873_875del (p.Cys291_Glu292delinsTrp) | |
1 | g.209629802_209629804delinsTCA | CA2484300833 | LAMB3 | c.1065_1067delinsTGA (p.Cys355=) c.873_875delinsTGA (p.Cys291=) | |
1 | g.209629803C>A | CA344592383 | LAMB3 | c.1066G>T (p.Glu356Ter) c.874G>T (p.Glu292Ter) | gnomAD v4 |
1 | g.209629803C= | CA2484300834 | LAMB3 | c.1066G= (p.Glu356=) c.874G= (p.Glu292=) | |
1 | g.209629803C>G | CA344592378 | LAMB3 | c.1066G>C (p.Glu356Gln) c.874G>C (p.Glu292Gln) | |
1 | g.209629803C>T | CA344592380 | LAMB3 | c.1066G>A (p.Glu356Lys) c.874G>A (p.Glu292Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209629805_209629806del | CA658822569 | LAMB3 | c.1065_1066del (p.Cys355Ter) c.873_874del (p.Cys291Ter) | ClinVar dbSNP |