Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.44286431_44288165del | CA2580618164 | AIRE | c.133-126_539-180del n.294-126_1083-180del n.302-126_1091-180del | ClinVar |
21 | g.44287027del | CA2654789054 | AIRE | c.357del (p.Lys120ArgfsTer27) n.518del n.526del | gnomAD v4 |
21 | g.44287027C>A | CA512490324 | AIRE | c.357C>A (p.Pro119=) n.518C>A n.526C>A | |
21 | g.44287027C= | CA2391565404 | AIRE | c.357C= (p.Pro119=) n.518C= n.526C= | |
21 | g.44287027C>G | CA512490325 | AIRE | c.357C>G (p.Pro119=) n.518C>G n.526C>G | dbSNP gnomAD v2 gnomAD v4 |
21 | g.44287027C>T | CA512490326 | AIRE | c.357C>T (p.Pro119=) n.518C>T n.526C>T | |
21 | g.44287028A>C | CA410423674 | AIRE | c.358A>C (p.Lys120Gln) n.519A>C n.527A>C | |
21 | g.44287028A>G | CA410423672 | AIRE | c.358A>G (p.Lys120Glu) n.519A>G n.527A>G | |
21 | g.44287028A>T | CA410423673 | AIRE | c.358A>T (p.Lys120Ter) n.519A>T n.527A>T | |
21 | g.44287029A= | CA2391565405 | AIRE | c.359A= (p.Lys120=) n.520A= n.528A= | |
21 | g.44287029A>C | CA410423675 | AIRE | c.359A>C (p.Lys120Thr) n.520A>C n.528A>C | |
21 | g.44287029A>G | CA410423676 | AIRE | c.359A>G (p.Lys120Arg) n.520A>G n.528A>G | gnomAD v4 |
21 | g.44287029A>T | CA410423677 | AIRE | c.359A>T (p.Lys120Met) n.520A>T n.528A>T | dbSNP gnomAD v2 |
21 | g.44287030G>A | CA512490327 | AIRE | c.360G>A (p.Lys120=) n.521G>A n.529G>A | dbSNP |
21 | g.44287030G>C | CA410423678 | AIRE | c.360G>C (p.Lys120Asn) n.521G>C n.529G>C | gnomAD v4 |
21 | g.44287030G= | CA2391565406 | AIRE | c.360G= (p.Lys120=) n.521G= n.529G= | |
21 | g.44287030G>T | CA410423679 | AIRE | c.360G>T (p.Lys120Asn) n.521G>T n.529G>T | |
21 | g.44287031G>A | CA410423680 | AIRE | c.361G>A (p.Ala121Thr) n.522G>A n.530G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44287031G>C | CA410423681 | AIRE | c.361G>C (p.Ala121Pro) n.522G>C n.530G>C | |
21 | g.44287031G= | CA2391565407 | AIRE | c.361G= (p.Ala121=) n.522G= n.530G= | |
21 | g.44287031G>T | CA410423682 | AIRE | c.361G>T (p.Ala121Ser) n.522G>T n.530G>T | |
21 | g.44287032C>A | CA410423683 | AIRE | c.362C>A (p.Ala121Asp) n.523C>A n.531C>A | |
21 | g.44287032C>G | CA410423684 | AIRE | c.362C>G (p.Ala121Gly) n.523C>G n.531C>G | |
21 | g.44287032C>T | CA410423685 | AIRE | c.362C>T (p.Ala121Val) n.523C>T n.531C>T | |
21 | g.44287033T>A | CA512490328 | AIRE | c.363T>A (p.Ala121=) n.524T>A n.532T>A | |
21 | g.44287033T>C | CA512490329 | AIRE | c.363T>C (p.Ala121=) n.524T>C n.532T>C | dbSNP |
21 | g.44287033T>G | CA512490330 | AIRE | c.363T>G (p.Ala121=) n.524T>G n.532T>G | |
21 | g.44287033T= | CA2391565408 | AIRE | c.363T= (p.Ala121=) n.524T= n.532T= | |
21 | g.44287034T>A | CA410423687 | AIRE | c.364T>A (p.Leu122Met) n.525T>A n.533T>A | |
21 | g.44287034T>C | CA512490331 | AIRE | c.364T>C (p.Leu122=) n.525T>C n.533T>C | ClinVar gnomAD v4 |
21 | g.44287034T>G | CA410423686 | AIRE | c.364T>G (p.Leu122Val) n.525T>G n.533T>G | |
21 | g.44287035T>A | CA410423688 | AIRE | c.365T>A (p.Leu122Ter) n.526T>A n.534T>A | |
21 | g.44287035T>C | CA410423689 | AIRE | c.365T>C (p.Leu122Ser) n.526T>C n.534T>C | |
21 | g.44287035T>G | CA410423690 | AIRE | c.365T>G (p.Leu122Trp) n.526T>G n.534T>G | |
21 | g.44287036G>A | CA512490332 | AIRE | c.366G>A (p.Leu122=) n.527G>A n.535G>A | dbSNP |
21 | g.44287036G>C | CA410423691 | AIRE | c.366G>C (p.Leu122Phe) n.527G>C n.535G>C | COSMIC |
21 | g.44287036G= | CA2391565409 | AIRE | c.366G= (p.Leu122=) n.527G= n.535G= | |
21 | g.44287036G>T | CA410423692 | AIRE | c.366G>T (p.Leu122Phe) n.527G>T n.535G>T | dbSNP gnomAD v2 |
21 | g.44287037G>A | CA410423693 | AIRE | c.367G>A (p.Val123Ile) n.528G>A n.536G>A | |
21 | g.44287037G>C | CA410423694 | AIRE | c.367G>C (p.Val123Leu) n.528G>C n.536G>C | |
21 | g.44287037G>T | CA410423695 | AIRE | c.367G>T (p.Val123Leu) n.528G>T n.536G>T | gnomAD v4 |
21 | g.44287038T>A | CA410423696 | AIRE | c.368T>A (p.Val123Glu) n.529T>A n.537T>A | |
21 | g.44287038T>C | CA410423697 | AIRE | c.368T>C (p.Val123Ala) n.529T>C n.537T>C | |
21 | g.44287038T>G | CA410423698 | AIRE | c.368T>G (p.Val123Gly) n.529T>G n.537T>G | |
21 | g.44287039A= | CA2391565410 | AIRE | c.369A= (p.Val123=) n.530A= n.538A= | |
21 | g.44287039A>C | CA512490333 | AIRE | c.369A>C (p.Val123=) n.530A>C n.538A>C | |
21 | g.44287039A>G | CA512490335 | AIRE | c.369A>G (p.Val123=) n.530A>G n.538A>G | dbSNP gnomAD v4 |
21 | g.44287039A>T | CA512490334 | AIRE | c.369A>T (p.Val123=) n.530A>T n.538A>T | |
21 | g.44287040C>A | CA410423699 | AIRE | c.370C>A (p.Pro124Thr) n.531C>A n.539C>A | gnomAD v4 |
21 | g.44287040C>G | CA410423700 | AIRE | c.370C>G (p.Pro124Ala) n.531C>G n.539C>G |