Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209629860_209629861insATGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCCTTGTCACACACACCTCCATATGCCCC | CA1011768218 | LAMB3 | c.1034_1035insGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCATGGGGCATATGGAGGTGTGTGTGACAA (p.Asn345LysfsTer?) c.842_843insGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCATGGGGCATATGGAGGTGTGTGTGACAA (p.Asn281LysfsTer?) | gnomAD v3 gnomAD v4 |
1 | g.209629835_209629911dup | CA10602754 | LAMB3 | c.958_1034dup (p.Asn345LysfsTer?) c.766_842dup (p.Asn281LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629846_209629847dup | CA16040696 | LAMB3 | c.1029_1030dup (p.Asp344ValfsTer?) c.837_838dup (p.Asp280ValfsTer?) | ClinVar dbSNP |
1 | g.209629846_209629847del | CA2697554893 | LAMB3 | c.1029_1030del (p.Cys343Ter) c.837_838del (p.Cys279Ter) | ClinVar dbSNP |
1 | g.209629844A>C | CA344592569 | LAMB3 | c.1025T>G (p.Val342Gly) c.833T>G (p.Val278Gly) | |
1 | g.209629844A>G | CA344592570 | LAMB3 | c.1025T>C (p.Val342Ala) c.833T>C (p.Val278Ala) | |
1 | g.209629844A>T | CA344592571 | LAMB3 | c.1025T>A (p.Val342Glu) c.833T>A (p.Val278Glu) | |
1 | g.209629845C>A | CA344592573 | LAMB3 | c.1024G>T (p.Val342Leu) c.832G>T (p.Val278Leu) | |
1 | g.209629845C>G | CA344592574 | LAMB3 | c.1024G>C (p.Val342Leu) c.832G>C (p.Val278Leu) | |
1 | g.209629845C>T | CA344592572 | LAMB3 | c.1024G>A (p.Val342Met) c.832G>A (p.Val278Met) | |
1 | g.209629846A>C | CA423032286 | LAMB3 | c.1023T>G (p.Gly341=) c.831T>G (p.Gly277=) | |
1 | g.209629846A>G | CA423032288 | LAMB3 | c.1023T>C (p.Gly341=) c.831T>C (p.Gly277=) | COSMIC |
1 | g.209629846A>T | CA423032289 | LAMB3 | c.1023T>A (p.Gly341=) c.831T>A (p.Gly277=) | |
1 | g.209629847C>A | CA344592577 | LAMB3 | c.1022G>T (p.Gly341Val) c.830G>T (p.Gly277Val) | |
1 | g.209629847C>G | CA344592575 | LAMB3 | c.1022G>C (p.Gly341Ala) c.830G>C (p.Gly277Ala) | |
1 | g.209629847C>T | CA344592576 | LAMB3 | c.1022G>A (p.Gly341Asp) c.830G>A (p.Gly277Asp) | |
1 | g.209629848C>A | CA344592578 | LAMB3 | c.1021G>T (p.Gly341Cys) c.829G>T (p.Gly277Cys) | |
1 | g.209629848C>G | CA344592579 | LAMB3 | c.1021G>C (p.Gly341Arg) c.829G>C (p.Gly277Arg) | |
1 | g.209629848C>T | CA344592580 | LAMB3 | c.1021G>A (p.Gly341Ser) c.829G>A (p.Gly277Ser) | |
1 | g.209629849T>A | CA423032292 | LAMB3 | c.1020A>T (p.Gly340=) c.828A>T (p.Gly276=) | |
1 | g.209629849T>C | CA423032293 | LAMB3 | c.1020A>G (p.Gly340=) c.828A>G (p.Gly276=) | |
1 | g.209629849T>G | CA423032294 | LAMB3 | c.1020A>C (p.Gly340=) c.828A>C (p.Gly276=) | |
1 | g.209629850C>A | CA344592581 | LAMB3 | c.1019G>T (p.Gly340Val) c.827G>T (p.Gly276Val) | |
1 | g.209629850C>G | CA344592582 | LAMB3 | c.1019G>C (p.Gly340Ala) c.827G>C (p.Gly276Ala) | |
1 | g.209629850C>T | CA344592583 | LAMB3 | c.1019G>A (p.Gly340Glu) c.827G>A (p.Gly276Glu) | |
1 | g.209629851C>A | CA344592584 | LAMB3 | c.1018G>T (p.Gly340Ter) c.826G>T (p.Gly276Ter) | |
1 | g.209629851C= | CA2484300849 | LAMB3 | c.1018G= (p.Gly340=) c.826G= (p.Gly276=) | |
1 | g.209629851C>G | CA344592585 | LAMB3 | c.1018G>C (p.Gly340Arg) c.826G>C (p.Gly276Arg) | |
1 | g.209629851C>T | CA344592586 | LAMB3 | c.1018G>A (p.Gly340Arg) c.826G>A (p.Gly276Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209629852A= | CA2484300850 | LAMB3 | c.1017T= (p.Tyr339=) c.825T= (p.Tyr275=) | |
1 | g.209629852A>C | CA1375717 | LAMB3 | c.1017T>G (p.Tyr339Ter) c.825T>G (p.Tyr275Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209629852A>G | CA423032298 | LAMB3 | c.1017T>C (p.Tyr339=) c.825T>C (p.Tyr275=) | COSMIC |
1 | g.209629852A>T | CA344592587 | LAMB3 | c.1017T>A (p.Tyr339Ter) c.825T>A (p.Tyr275Ter) | |
1 | g.209629853T>A | CA344592589 | LAMB3 | c.1016A>T (p.Tyr339Phe) c.824A>T (p.Tyr275Phe) | |
1 | g.209629853T>C | CA1375718 | LAMB3 | c.1016A>G (p.Tyr339Cys) c.824A>G (p.Tyr275Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209629853T>G | CA344592588 | LAMB3 | c.1016A>C (p.Tyr339Ser) c.824A>C (p.Tyr275Ser) | |
1 | g.209629853T= | CA1148448106 | LAMB3 | c.1016A= (p.Tyr339=) c.824A= (p.Tyr275=) | |
1 | g.209629854A= | CA1140616900 | LAMB3 | c.1015T= (p.Tyr339=) c.823T= (p.Tyr275=) | |
1 | g.209629854A>C | CA344592590 | LAMB3 | c.1015T>G (p.Tyr339Asp) c.823T>G (p.Tyr275Asp) | |
1 | g.209629854A>G | CA1375719 | LAMB3 | c.1015T>C (p.Tyr339His) c.823T>C (p.Tyr275His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629854A>T | CA344592591 | LAMB3 | c.1015T>A (p.Tyr339Asn) c.823T>A (p.Tyr275Asn) | |
1 | g.209629855T>A | CA423032301 | LAMB3 | c.1014A>T (p.Ala338=) c.822A>T (p.Ala274=) | |
1 | g.209629855T>C | CA423032303 | LAMB3 | c.1014A>G (p.Ala338=) c.822A>G (p.Ala274=) | |
1 | g.209629855T>G | CA423032305 | LAMB3 | c.1014A>C (p.Ala338=) c.822A>C (p.Ala274=) | |
1 | g.209629856G>A | CA344592592 | LAMB3 | c.1013C>T (p.Ala338Val) c.821C>T (p.Ala274Val) | |
1 | g.209629856G>C | CA344592593 | LAMB3 | c.1013C>G (p.Ala338Gly) c.821C>G (p.Ala274Gly) | |
1 | g.209629856G= | CA2484300852 | LAMB3 | c.1013C= (p.Ala338=) c.821C= (p.Ala274=) | |
1 | g.209629856G>T | CA344592594 | LAMB3 | c.1013C>A (p.Ala338Glu) c.821C>A (p.Ala274Glu) | dbSNP |
1 | g.209629856_209629857delinsGC | CA2484300851 | LAMB3 | c.1012_1013delinsGC (p.Ala338=) c.820_821delinsGC (p.Ala274=) | |
1 | g.209629857C>A | CA344592595 | LAMB3 | c.1012G>T (p.Ala338Ser) c.820G>T (p.Ala274Ser) | dbSNP gnomAD v4 |