Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.78997245G>A | CA401308677 | CANT1 | c.378C>T (p.Phe126=) c.217C>T (p.Gln73Ter) n.822C>T | |
17 | g.78997245G>C | CA401308678 | CANT1 | c.378C>G (p.Phe126Leu) c.217C>G (p.Gln73Glu) n.822C>G | |
17 | g.78997245G>T | CA401308679 | CANT1 | c.378C>A (p.Phe126Leu) c.217C>A (p.Gln73Lys) n.822C>A | |
17 | g.78997246A>C | CA401308680 | CANT1 | c.377T>G (p.Phe126Cys) c.216T>G (p.Val72=) n.821T>G | |
17 | g.78997246A>G | CA401308681 | CANT1 | c.377T>C (p.Phe126Ser) c.216T>C (p.Val72=) n.821T>C | |
17 | g.78997246A>T | CA401308682 | CANT1 | c.377T>A (p.Phe126Tyr) c.216T>A (p.Val72=) n.821T>A | |
17 | g.78997247A>C | CA401308683 | CANT1 | c.376T>G (p.Phe126Val) c.215T>G (p.Val72Gly) n.820T>G | |
17 | g.78997247A>G | CA401308684 | CANT1 | c.376T>C (p.Phe126Leu) c.215T>C (p.Val72Ala) n.820T>C | |
17 | g.78997247A>T | CA401308685 | CANT1 | c.376T>A (p.Phe126Ile) c.215T>A (p.Val72Asp) n.820T>A | |
17 | g.78997248C>A | CA401308686 | CANT1 | c.375G>T (p.Trp125Cys) c.214G>T (p.Val72Phe) n.819G>T | |
17 | g.78997248C= | CA2277259559 | CANT1 | c.375G= (p.Trp125=) c.214G= (p.Val72=) n.819G= | |
17 | g.78997248C>G | CA129623 | CANT1 | c.375G>C (p.Trp125Cys) c.214G>C (p.Val72Leu) n.819G>C | ClinVar dbSNP |
17 | g.78997248C>T | CA401308687 | CANT1 | c.375G>A (p.Trp125Ter) c.214G>A (p.Val72Ile) n.819G>A | |
17 | g.78997249C>A | CA401308688 | CANT1 | c.374G>T (p.Trp125Leu) c.213G>T (p.Leu71=) n.818G>T | |
17 | g.78997249C= | CA2277259561 | CANT1 | c.374G= (p.Trp125=) c.213G= (p.Leu71=) n.818G= | |
17 | g.78997249C>G | CA401308689 | CANT1 | c.374G>C (p.Trp125Ser) c.213G>C (p.Leu71=) n.818G>C | |
17 | g.78997249C>T | CA114112 | CANT1 | c.374G>A (p.Trp125Ter) c.213G>A (p.Leu71=) n.818G>A | ClinVar dbSNP |
17 | g.78997249_78997250delinsCA | CA2277259560 | CANT1 | c.373_374delinsTG (p.Trp125=) c.212_213delinsTG (p.Leu71=) n.817_818delinsTG | |
17 | g.78997250del | CA775366297 | CANT1 | c.373del (p.Trp125GlyfsTer5) c.212del (p.Leu71ArgfsTer?) n.817del | dbSNP gnomAD v4 |
17 | g.78997250A= | CA2277259562 | CANT1 | c.373T= (p.Trp125=) c.212T= (p.Leu71=) n.817T= | |
17 | g.78997250A>C | CA401308690 | CANT1 | c.373T>G (p.Trp125Gly) c.212T>G (p.Leu71Arg) n.817T>G | |
17 | g.78997250A>G | CA294812432 | CANT1 | c.373T>C (p.Trp125Arg) c.212T>C (p.Leu71Pro) n.817T>C | dbSNP |
17 | g.78997250A>T | CA401308691 | CANT1 | c.373T>A (p.Trp125Arg) c.212T>A (p.Leu71Gln) n.817T>A | |
17 | g.78997251G>A | CA502397541 | CANT1 | c.372C>T (p.Thr124=) c.211C>T (p.Leu71=) n.816C>T | gnomAD v4 |
17 | g.78997251G>C | CA401308692 | CANT1 | c.372C>G (p.Thr124=) c.211C>G (p.Leu71Val) n.816C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.78997251G= | CA2277259563 | CANT1 | c.372C= (p.Thr124=) c.211C= (p.Leu71=) n.816C= | |
17 | g.78997251G>T | CA401308693 | CANT1 | c.372C>A (p.Thr124=) c.211C>A (p.Leu71Met) n.816C>A | COSMIC |
17 | g.78997252G>A | CA401308694 | CANT1 | c.371C>T (p.Thr124Ile) c.210C>T (p.His70=) n.815C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.78997252G>C | CA401308695 | CANT1 | c.371C>G (p.Thr124Ser) c.210C>G (p.His70Gln) n.815C>G | |
17 | g.78997252G= | CA2277259564 | CANT1 | c.371C= (p.Thr124=) c.210C= (p.His70=) n.815C= | |
17 | g.78997252G>T | CA401308696 | CANT1 | c.371C>A (p.Thr124Asn) c.210C>A (p.His70Gln) n.815C>A | |
17 | g.78997252_78997263delinsGTGTTTTCCTCT | CA2277259565 | CANT1 | c.360_371delinsAGAGGAAAACAC (p.Gln120=) c.199_210delinsAGAGGAAAACAC (p.Arg67=) n.804_815delinsAGAGGAAAACAC | |
17 | g.78997253T>A | CA401308699 | CANT1 | c.370A>T (p.Thr124Ser) c.209A>T (p.His70Leu) n.814A>T | |
17 | g.78997253T>C | CA401308698 | CANT1 | c.370A>G (p.Thr124Ala) c.209A>G (p.His70Arg) n.814A>G | |
17 | g.78997253T>G | CA401308697 | CANT1 | c.370A>C (p.Thr124Pro) c.209A>C (p.His70Pro) n.814A>C | |
17 | g.78997255_78997265del | CA2277259566 | CANT1 | c.360_370del (p.Gln120HisfsTer?) c.199_209del (p.Arg67ProfsTer6) n.804_814del | dbSNP |
17 | g.78997254G>A | CA401308700 | CANT1 | c.369C>T (p.Asn123=) c.208C>T (p.His70Tyr) n.813C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.78997254G>C | CA401308701 | CANT1 | c.369C>G (p.Asn123Lys) c.208C>G (p.His70Asp) n.813C>G | |
17 | g.78997254G= | CA2277259567 | CANT1 | c.369C= (p.Asn123=) c.208C= (p.His70=) n.813C= | |
17 | g.78997254G>T | CA401308702 | CANT1 | c.369C>A (p.Asn123Lys) c.208C>A (p.His70Asn) n.813C>A | |
17 | g.78997255T>A | CA401308703 | CANT1 | c.368A>T (p.Asn123Ile) c.207A>T (p.Lys69Asn) n.812A>T | |
17 | g.78997255T>C | CA401308704 | CANT1 | c.368A>G (p.Asn123Ser) c.207A>G (p.Lys69=) n.812A>G | |
17 | g.78997255T>G | CA401308705 | CANT1 | c.368A>C (p.Asn123Thr) c.207A>C (p.Lys69Asn) n.812A>C | |
17 | g.78997256T>A | CA401308706 | CANT1 | c.367A>T (p.Asn123Tyr) c.206A>T (p.Lys69Ile) n.811A>T | |
17 | g.78997256T>C | CA401308707 | CANT1 | c.367A>G (p.Asn123Asp) c.206A>G (p.Lys69Arg) n.811A>G | |
17 | g.78997256T>G | CA401308708 | CANT1 | c.367A>C (p.Asn123His) c.206A>C (p.Lys69Thr) n.811A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.78997256T= | CA2277259568 | CANT1 | c.367A= (p.Asn123=) c.206A= (p.Lys69=) n.811A= | |
17 | g.78997257T>A | CA401308709 | CANT1 | c.366A>T (p.Glu122Asp) c.205A>T (p.Lys69Ter) n.810A>T | |
17 | g.78997257T>C | CA401308710 | CANT1 | c.366A>G (p.Glu122=) c.205A>G (p.Lys69Glu) n.810A>G | |
17 | g.78997257T>G | CA401308711 | CANT1 | c.366A>C (p.Glu122Asp) c.205A>C (p.Lys69Gln) n.810A>C |