Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31271321C>A | CA363327095 | HLA-C | c.371G>T (p.Gly124Val) c.354G>T (p.Trp118Cys) c.369G>T n.640G>T n.730G>T n.560G>T | gnomAD v3 gnomAD v4 |
6 | g.31271321C= | CA1619080518 | HLA-C | c.371G= (p.Gly124=) c.354G= (p.Trp118=) c.369G= n.640G= n.730G= n.560G= | |
6 | g.31271321C>G | CA363327097 | HLA-C | c.371G>C (p.Gly124Ala) c.354G>C (p.Trp118Cys) c.369G>C n.640G>C n.730G>C n.560G>C | gnomAD v4 |
6 | g.31271321C>T | CA136867980 | HLA-C | c.371G>A (p.Gly124Asp) c.354G>A (p.Trp118Ter) c.369G>A n.640G>A n.730G>A n.560G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31271322del | CA2677951344 | HLA-C | c.371del (p.Gly124AlafsTer27) c.354del (p.Trp118CysfsTer?) c.369del n.640del n.730del n.560del | gnomAD v4 |
6 | g.31271322C>A | CA363327102 | HLA-C | c.370G>T (p.Gly124Cys) c.353G>T (p.Trp118Leu) c.368G>T n.639G>T n.729G>T n.559G>T | gnomAD v3 gnomAD v4 |
6 | g.31271322C>G | CA363327106 | HLA-C | c.370G>C (p.Gly124Arg) c.353G>C (p.Trp118Ser) c.368G>C n.639G>C n.729G>C n.559G>C | gnomAD v4 |
6 | g.31271322C>T | CA363327107 | HLA-C | c.370G>A (p.Gly124Ser) c.353G>A (p.Trp118Ter) c.368G>A n.639G>A n.729G>A n.559G>A | gnomAD v3 gnomAD v4 |
6 | g.31271324_31271327del | CA2677951345 | HLA-C | c.367_370del (p.Ser123AlafsTer27) c.350_353del (p.Val117GlyfsTer?) c.365_368del n.636_639del n.726_729del n.556_559del | gnomAD v4 |
6 | g.31271323A= | CA1619080519 | HLA-C | c.369T= (p.Ser123=) c.352T= (p.Trp118=) c.367T= n.638T= n.728T= n.558T= | |
6 | g.31271323A>C | CA449790516 | HLA-C | c.369T>G (p.Ser123=) c.352T>G (p.Trp118Gly) c.367T>G n.638T>G n.728T>G n.558T>G | gnomAD v3 gnomAD v4 |
6 | g.31271323A>G | CA3710780 | HLA-C | c.369T>C (p.Ser123=) c.352T>C (p.Trp118Arg) c.367T>C n.638T>C n.728T>C n.558T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271323A>T | CA449790517 | HLA-C | c.369T>A (p.Ser123=) c.352T>A (p.Trp118Arg) c.367T>A n.638T>A n.728T>A n.558T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31271324G>A | CA3710782 | HLA-C | c.368C>T (p.Ser123Phe) c.351C>T (p.Val117=) c.366C>T n.637C>T n.727C>T n.557C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271324G>C | CA3710783 | HLA-C | c.368C>G (p.Ser123Cys) c.351C>G (p.Val117=) c.366C>G n.637C>G n.727C>G n.557C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
6 | g.31271324G= | CA1619080520 | HLA-C | c.368C= (p.Ser123=) c.351C= (p.Val117=) c.366C= n.637C= n.727C= n.557C= | |
6 | g.31271324G>T | CA3710781 | HLA-C | c.368C>A (p.Ser123Tyr) c.351C>A (p.Val117=) c.366C>A n.637C>A n.727C>A n.557C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271324_31271325insT | CA2677951347 | HLA-C | c.367_368insA (p.Ser123TyrfsTer16) c.350_351insA (p.Trp118LeufsTer28) c.365_366insA n.636_637insA n.726_727insA n.556_557insA | gnomAD v4 |
6 | g.31271324_31271325insCAT | CA2677951346 | HLA-C | c.367_368insATG (p.Ser123delinsTyrAla) c.350_351insATG (p.Val117_Trp118insCys) c.365_366insATG n.636_637insATG n.726_727insATG n.556_557insATG | gnomAD v4 |
6 | g.31271325A= | CA1619080521 | HLA-C | c.367T= (p.Ser123=) c.350T= (p.Val117=) c.365T= n.636T= n.726T= n.556T= | |
6 | g.31271325A>C | CA136868012 | HLA-C | c.367T>G (p.Ser123Ala) c.350T>G (p.Val117Gly) c.365T>G n.636T>G n.726T>G n.556T>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31271325A>G | CA136867994 | HLA-C | c.367T>C (p.Ser123Pro) c.350T>C (p.Val117Ala) c.365T>C n.636T>C n.726T>C n.556T>C | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
6 | g.31271325A>T | CA363327128 | HLA-C | c.367T>A (p.Ser123Thr) c.350T>A (p.Val117Asp) c.365T>A n.636T>A n.726T>A n.556T>A | gnomAD v3 gnomAD v4 |
6 | g.31271327_31271328insGTACA | CA2677951348 | HLA-C | c.367_368insACTGT (p.Ser123TyrfsTer30) c.350_351insACTGT (p.Trp118LeufsTer?) c.365_366insACTGT n.636_637insACTGT n.726_727insACTGT n.556_557insACTGT | gnomAD v4 |
6 | g.31271326C>A | CA363327140 | HLA-C | c.366G>T (p.Met122Ile) c.349G>T (p.Val117Phe) c.364G>T n.635G>T n.725G>T n.555G>T | gnomAD v3 gnomAD v4 |
6 | g.31271326C= | CA1619080522 | HLA-C | c.366G= (p.Met122=) c.349G= (p.Val117=) c.364G= n.635G= n.725G= n.555G= | |
6 | g.31271326C>G | CA363327142 | HLA-C | c.366G>C (p.Met122Ile) c.349G>C (p.Val117Leu) c.364G>C n.635G>C n.725G>C n.555G>C | gnomAD v4 |
6 | g.31271326C>T | CA136868013 | HLA-C | c.366G>A (p.Met122Ile) c.349G>A (p.Val117Ile) c.364G>A n.635G>A n.725G>A n.555G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31271327A= | CA1619080523 | HLA-C | c.365T= (p.Met122=) c.348T= (p.Asp116=) c.363T= n.634T= n.724T= n.554T= | |
6 | g.31271327A>C | CA136868018 | HLA-C | c.365T>G (p.Met122Arg) c.348T>G (p.Asp116Glu) c.363T>G n.634T>G n.724T>G n.554T>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31271327A>G | CA136868015 | HLA-C | c.365T>C (p.Met122Thr) c.348T>C (p.Asp116=) c.363T>C n.634T>C n.724T>C n.554T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31271327A>T | CA363327158 | HLA-C | c.365T>A (p.Met122Lys) c.348T>A (p.Asp116Glu) c.363T>A n.634T>A n.724T>A n.554T>A | gnomAD v3 gnomAD v4 |
6 | g.31271327_31271328insGA | CA2677951349 | HLA-C | c.365_366insCT (p.Met122IlefsTer30) c.348_349insCT (p.Val117LeufsTer?) c.363_364insCT n.634_635insCT n.724_725insCT n.554_555insCT | gnomAD v4 |
6 | g.31271328T>A | CA136868038 | HLA-C | c.364A>T (p.Met122Leu) c.347A>T (p.Asp116Val) c.362A>T n.633A>T n.723A>T n.553A>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31271328T>C | CA136868028 | HLA-C | c.364A>G (p.Met122Val) c.347A>G (p.Asp116Gly) c.362A>G n.633A>G n.723A>G n.553A>G | dbSNP gnomAD v4 |
6 | g.31271328T>G | CA363327166 | HLA-C | c.364A>C (p.Met122Leu) c.347A>C (p.Asp116Ala) c.362A>C n.633A>C n.723A>C n.553A>C | gnomAD v3 gnomAD v4 |
6 | g.31271328T= | CA1619080524 | HLA-C | c.364A= (p.Met122=) c.347A= (p.Asp116=) c.362A= n.633A= n.723A= n.553A= | |
6 | g.31271329C>A | CA3710784 | HLA-C | c.363G>T (p.Arg121Ser) c.346G>T (p.Asp116Tyr) c.361G>T n.632G>T n.722G>T n.552G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271329C= | CA1619080525 | HLA-C | c.363G= (p.Arg121=) c.346G= (p.Asp116=) c.361G= n.632G= n.722G= n.552G= | |
6 | g.31271329C>G | CA3710785 | HLA-C | c.363G>C (p.Arg121Ser) c.346G>C (p.Asp116His) c.361G>C n.632G>C n.722G>C n.552G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
6 | g.31271329C>T | CA136868041 | HLA-C | c.363G>A (p.Arg121=) c.346G>A (p.Asp116Asn) c.361G>A n.632G>A n.722G>A n.552G>A | dbSNP gnomAD v4 |
6 | g.31271329_31271330del | CA2677951350 | HLA-C | c.362_363del (p.Arg121AsnfsTer17) c.345_346del (p.Asp116CysfsTer29) c.360_361del n.631_632del n.721_722del n.551_552del | gnomAD v4 |
6 | g.31271329_31271330delinsAT | CA645551334 | HLA-C | c.362_363delinsAT (p.Arg121Asn) c.345_346delinsAT (p.Asp116Tyr) c.360_361delinsAT n.631_632delinsAT n.721_722delinsAT n.551_552delinsAT | COSMIC COSMIC |
6 | g.31271330del | CA2677951351 | HLA-C | c.363del (p.Met122CysfsTer29) c.346del (p.Asp116MetfsTer?) c.361del n.632del n.722del n.552del | gnomAD v4 |
6 | g.31271330C>A | CA3710787 | HLA-C | c.362G>T (p.Arg121Met) c.345G>T (p.Glu115Asp) c.360G>T n.631G>T n.721G>T n.551G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271330C= | CA1619080526 | HLA-C | c.362G= (p.Arg121=) c.345G= (p.Glu115=) c.360G= n.631G= n.721G= n.551G= | |
6 | g.31271330C>G | CA3710786 | HLA-C | c.362G>C (p.Arg121Thr) c.345G>C (p.Glu115Asp) c.360G>C n.631G>C n.721G>C n.551G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271330C>T | CA3710788 | HLA-C | c.362G>A (p.Arg121Lys) c.345G>A (p.Glu115=) c.360G>A n.631G>A n.721G>A n.551G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271330_31271331insATAT | CA2677951352 | HLA-C | c.361_362insATAT (p.Arg121AsnfsTer19) c.344_345insATAT (p.Asp116TyrfsTer31) c.359_360insATAT n.630_631insATAT n.720_721insATAT n.550_551insATAT | gnomAD v4 |
6 | g.31271331T>A | CA3710789 | HLA-C | c.361A>T (p.Arg121Trp) c.344A>T (p.Glu115Val) c.359A>T n.630A>T n.720A>T n.550A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |