Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.74457283_74457284delinsAC | CA1982893243 | KCNE3 | c.280_281delinsGT (p.Val94=) c.412_413delinsGT (p.Val138=) | |
11 | g.74457284del | CA302002 | KCNE3 | c.280del (p.Val94CysfsTer9) c.280del (p.Val94CysfsTer?) c.412del (p.Val138CysfsTer9) | dbSNP gnomAD v4 |
11 | g.74457284C>A | CA381973693 | KCNE3 | c.280G>T (p.Val94Leu) c.412G>T (p.Val138Leu) | |
11 | g.74457284C= | CA1982893245 | KCNE3 | c.280G= (p.Val94=) c.412G= (p.Val138=) | |
11 | g.74457284C>G | CA381973694 | KCNE3 | c.280G>C (p.Val94Leu) c.412G>C (p.Val138Leu) | |
11 | g.74457284C>T | CA381973695 | KCNE3 | c.280G>A (p.Val94Met) c.412G>A (p.Val138Met) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74457284_74457286delinsCAT | CA1982893244 | KCNE3 | c.278_280delinsATG (p.His93=) c.410_412delinsATG (p.His137=) | |
11 | g.74457285A= | CA1982893246 | KCNE3 | c.279T= (p.His93=) c.411T= (p.His137=) | |
11 | g.74457285A>C | CA381973696 | KCNE3 | c.279T>G (p.His93Gln) c.411T>G (p.His137Gln) | |
11 | g.74457285A>G | CA6184822 | KCNE3 | c.279T>C (p.His93=) c.411T>C (p.His137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74457285A>T | CA224975649 | KCNE3 | c.279T>A (p.His93Gln) c.411T>A (p.His137Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74457285_74457286del | CA600393531 | KCNE3 | c.278_279del (p.His93ArgfsTer?) c.410_411del (p.His137ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74457286T>A | CA381973697 | KCNE3 | c.278A>T (p.His93Leu) c.410A>T (p.His137Leu) | |
11 | g.74457286T>C | CA381973698 | KCNE3 | c.278A>G (p.His93Arg) c.410A>G (p.His137Arg) | dbSNP gnomAD v4 |
11 | g.74457286T>G | CA381973699 | KCNE3 | c.278A>C (p.His93Pro) c.410A>C (p.His137Pro) | |
11 | g.74457286T= | CA1982893247 | KCNE3 | c.278A= (p.His93=) c.410A= (p.His137=) | |
11 | g.74457287G>A | CA381973700 | KCNE3 | c.277C>T (p.His93Tyr) c.409C>T (p.His137Tyr) | ClinVar dbSNP gnomAD v4 |
11 | g.74457287G>C | CA381973701 | KCNE3 | c.277C>G (p.His93Asp) c.409C>G (p.His137Asp) | |
11 | g.74457287G= | CA1982893248 | KCNE3 | c.277C= (p.His93=) c.409C= (p.His137=) | |
11 | g.74457287G>T | CA381973702 | KCNE3 | c.277C>A (p.His93Asn) c.409C>A (p.His137Asn) | |
11 | g.74457288A>C | CA381973703 | KCNE3 | c.276T>G (p.Tyr92Ter) c.408T>G (p.Tyr136Ter) | |
11 | g.74457288A>G | CA475842739 | KCNE3 | c.276T>C (p.Tyr92=) c.408T>C (p.Tyr136=) | |
11 | g.74457288A>T | CA381973704 | KCNE3 | c.276T>A (p.Tyr92Ter) c.408T>A (p.Tyr136Ter) | |
11 | g.74457289del | CA2615094114 | KCNE3 | c.275del (p.Tyr92PhefsTer11) c.275del (p.Tyr92PhefsTer?) c.407del (p.Tyr136PhefsTer11) | gnomAD v4 |
11 | g.74457289T>A | CA381973707 | KCNE3 | c.275A>T (p.Tyr92Phe) c.407A>T (p.Tyr136Phe) | |
11 | g.74457289T>C | CA381973705 | KCNE3 | c.275A>G (p.Tyr92Cys) c.407A>G (p.Tyr136Cys) | gnomAD v4 |
11 | g.74457289T>G | CA381973706 | KCNE3 | c.275A>C (p.Tyr92Ser) c.407A>C (p.Tyr136Ser) | |
11 | g.74457289_74457290delinsTA | CA1982893249 | KCNE3 | c.274_275delinsTA (p.Tyr92=) c.406_407delinsTA (p.Tyr136=) | |
11 | g.74457290del | CA224975650 | KCNE3 | c.274del (p.Tyr92IlefsTer11) c.274del (p.Tyr92IlefsTer?) c.406del (p.Tyr136IlefsTer11) | dbSNP gnomAD v4 |
11 | g.74457290A>C | CA381973708 | KCNE3 | c.274T>G (p.Tyr92Asp) c.406T>G (p.Tyr136Asp) | |
11 | g.74457290A>G | CA381973709 | KCNE3 | c.274T>C (p.Tyr92His) c.406T>C (p.Tyr136His) | |
11 | g.74457290A>T | CA381973710 | KCNE3 | c.274T>A (p.Tyr92Asn) c.406T>A (p.Tyr136Asn) | |
11 | g.74457291G>A | CA475842741 | KCNE3 | c.273C>T (p.Pro91=) c.405C>T (p.Pro135=) | gnomAD v4 |
11 | g.74457291G>C | CA475842742 | KCNE3 | c.273C>G (p.Pro91=) c.405C>G (p.Pro135=) | |
11 | g.74457291G>T | CA475842743 | KCNE3 | c.273C>A (p.Pro91=) c.405C>A (p.Pro135=) | |
11 | g.74457292G>A | CA381973711 | KCNE3 | c.272C>T (p.Pro91Leu) c.404C>T (p.Pro135Leu) | |
11 | g.74457292G>C | CA381973712 | KCNE3 | c.272C>G (p.Pro91Arg) c.404C>G (p.Pro135Arg) | gnomAD v4 |
11 | g.74457292G>T | CA381973713 | KCNE3 | c.272C>A (p.Pro91His) c.404C>A (p.Pro135His) | |
11 | g.74457293G>A | CA381973714 | KCNE3 | c.271C>T (p.Pro91Ser) c.403C>T (p.Pro135Ser) | gnomAD v4 |
11 | g.74457293G>C | CA381973715 | KCNE3 | c.271C>G (p.Pro91Ala) c.403C>G (p.Pro135Ala) | gnomAD v4 |
11 | g.74457293G>T | CA381973716 | KCNE3 | c.271C>A (p.Pro91Thr) c.403C>A (p.Pro135Thr) | |
11 | g.74457294G>A | CA475842745 | KCNE3 | c.270C>T (p.Asp90=) c.402C>T (p.Asp134=) | dbSNP gnomAD v4 |
11 | g.74457294G>C | CA381973717 | KCNE3 | c.270C>G (p.Asp90Glu) c.402C>G (p.Asp134Glu) | |
11 | g.74457294G= | CA1982893250 | KCNE3 | c.270C= (p.Asp90=) c.402C= (p.Asp134=) | |
11 | g.74457294G>T | CA381973718 | KCNE3 | c.270C>A (p.Asp90Glu) c.402C>A (p.Asp134Glu) | |
11 | g.74457295T>A | CA381973721 | KCNE3 | c.269A>T (p.Asp90Val) c.401A>T (p.Asp134Val) | |
11 | g.74457295T>C | CA381973720 | KCNE3 | c.269A>G (p.Asp90Gly) c.401A>G (p.Asp134Gly) | |
11 | g.74457295T>G | CA381973719 | KCNE3 | c.269A>C (p.Asp90Ala) c.401A>C (p.Asp134Ala) | |
11 | g.74457296C>A | CA381973722 | KCNE3 | c.268G>T (p.Asp90Tyr) c.400G>T (p.Asp134Tyr) | |
11 | g.74457296C>G | CA381973724 | KCNE3 | c.268G>C (p.Asp90His) c.400G>C (p.Asp134His) |