| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 6 | g.31271331T>C | CA3710790 | HLA-C | c.361A>G (p.Arg121Gly) c.344A>G (p.Glu115Gly) c.359A>G n.630A>G n.720A>G n.550A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.31271331T>G | CA136868053 | HLA-C | c.361A>C (p.Arg121=) c.344A>C (p.Glu115Ala) c.359A>C n.630A>C n.720A>C n.550A>C | dbSNP gnomAD v4 |
| 6 | g.31271331T= | CA1619080527 | HLA-C | c.361A= (p.Arg121=) c.344A= (p.Glu115=) c.359A= n.630A= n.720A= n.550A= | |
| 6 | g.31271331_31271332insGCCA | CA2677951353 | HLA-C | c.360_361insTGGC (p.Arg121TrpfsTer19) c.344-1_344insTGGC (n.344-1_344insTGGC) c.358_359insTGGC n.629_630insTGGC n.719_720insTGGC n.549_550insTGGC | gnomAD v4 |
| 6 | g.31271332C>A | CA363327187 | HLA-C | c.360G>T (p.Gln120His) c.344-1G>T (n.344-1G>T) c.358G>T n.629G>T n.719G>T n.549G>T | gnomAD v4 COSMIC COSMIC COSMIC |
| 6 | g.31271332C= | CA1619080528 | HLA-C | c.360G= (p.Gln120=) c.344-1G= (n.344-1G=) c.358G= n.629G= n.719G= n.549G= | |
| 6 | g.31271332C>G | CA363327192 | HLA-C | c.360G>C (p.Gln120His) c.344-1G>C (n.344-1G>C) c.358G>C n.629G>C n.719G>C n.549G>C | gnomAD v4 |
| 6 | g.31271332C>T | CA136868054 | HLA-C | c.360G>A (p.Gln120=) c.344-1G>A (n.344-1G>A) c.358G>A n.629G>A n.719G>A n.549G>A | dbSNP gnomAD v4 |
| 6 | g.31271333del | CA2677951354 | HLA-C | c.359del (p.Gln120ArgfsTer?) c.344-2del (n.344-2del) c.357del n.628del n.718del n.548del | gnomAD v4 |
| 6 | g.31271333T>A | CA363327200 | HLA-C | c.359A>T (p.Gln120Leu) c.344-2A>T (n.344-2A>T) c.357A>T n.628A>T n.718A>T n.548A>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.31271333T>C | CA136868056 | HLA-C | c.359A>G (p.Gln120Arg) c.344-2A>G (n.344-2A>G) c.357A>G n.628A>G n.718A>G n.548A>G | dbSNP gnomAD v4 |
| 6 | g.31271333T>G | CA363327202 | HLA-C | c.359A>C (p.Gln120Pro) c.344-2A>C (n.344-2A>C) c.357A>C n.628A>C n.718A>C n.548A>C | gnomAD v3 gnomAD v4 |