Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
1 | g.209629804A>C | CA344592385 | LAMB3 | c.1065T>G (p.Cys355Trp) c.873T>G (p.Cys291Trp) | |
1 | g.209629804A>G | CA423032259 | LAMB3 | c.1065T>C (p.Cys355=) c.873T>C (p.Cys291=) | |
1 | g.209629804A>T | CA344592387 | LAMB3 | c.1065T>A (p.Cys355Ter) c.873T>A (p.Cys291Ter) | |
1 | g.209629805C>A | CA344592390 | LAMB3 | c.1064G>T (p.Cys355Phe) c.872G>T (p.Cys291Phe) | |
1 | g.209629805C= | CA2484300835 | LAMB3 | c.1064G= (p.Cys355=) c.872G= (p.Cys291=) | |
1 | g.209629805C>G | CA344592392 | LAMB3 | c.1064G>C (p.Cys355Ser) c.872G>C (p.Cys291Ser) | |
1 | g.209629805C>T | CA344592395 | LAMB3 | c.1064G>A (p.Cys355Tyr) c.872G>A (p.Cys291Tyr) | dbSNP |
1 | g.209629806A= | CA1144662679 | LAMB3 | c.1063T= (p.Cys355=) c.871T= (p.Cys291=) | |
1 | g.209629806A>C | CA344592397 | LAMB3 | c.1063T>G (p.Cys355Gly) c.871T>G (p.Cys291Gly) | |
1 | g.209629806A>G | CA36758460 | LAMB3 | c.1063T>C (p.Cys355Arg) c.871T>C (p.Cys291Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209629806A>T | CA344592400 | LAMB3 | c.1063T>A (p.Cys355Ser) c.871T>A (p.Cys291Ser) | |
1 | g.209629807G>A | CA423032260 | LAMB3 | c.1062C>T (p.Asn354=) c.870C>T (p.Asn290=) | gnomAD v4 |
1 | g.209629807G>C | CA344592404 | LAMB3 | c.1062C>G (p.Asn354Lys) c.870C>G (p.Asn290Lys) | gnomAD v4 |
1 | g.209629807G>T | CA344592405 | LAMB3 | c.1062C>A (p.Asn354Lys) c.870C>A (p.Asn290Lys) | |
1 | g.209629807_209629814dup | CA2650323370 | LAMB3 | c.1055_1062dup (p.Cys355AlafsTer?) c.863_870dup (p.Cys291AlafsTer?) | gnomAD v4 |
1 | g.209629808T>A | CA344592409 | LAMB3 | c.1061A>T (p.Asn354Ile) c.869A>T (p.Asn290Ile) | |
1 | g.209629808T>C | CA344592412 | LAMB3 | c.1061A>G (p.Asn354Ser) c.869A>G (p.Asn290Ser) | |
1 | g.209629808T>G | CA344592414 | LAMB3 | c.1061A>C (p.Asn354Thr) c.869A>C (p.Asn290Thr) | |
1 | g.209629809T>A | CA344592418 | LAMB3 | c.1060A>T (p.Asn354Tyr) c.868A>T (p.Asn290Tyr) | |
1 | g.209629809T>C | CA344592422 | LAMB3 | c.1060A>G (p.Asn354Asp) c.868A>G (p.Asn290Asp) | |
1 | g.209629809T>G | CA344592419 | LAMB3 | c.1060A>C (p.Asn354His) c.868A>C (p.Asn290His) |