Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.74457271T>A | CA381973662 | KCNE3 | c.293A>T (p.Asn98Ile) c.425A>T (p.Asn142Ile) | |
11 | g.74457271T>C | CA381973664 | KCNE3 | c.293A>G (p.Asn98Ser) c.425A>G (p.Asn142Ser) | |
11 | g.74457271T>G | CA381973663 | KCNE3 | c.293A>C (p.Asn98Thr) c.425A>C (p.Asn142Thr) | |
11 | g.74457272T>A | CA381973665 | KCNE3 | c.292A>T (p.Asn98Tyr) c.424A>T (p.Asn142Tyr) | |
11 | g.74457272T>C | CA381973666 | KCNE3 | c.292A>G (p.Asn98Asp) c.424A>G (p.Asn142Asp) | |
11 | g.74457272T>G | CA381973667 | KCNE3 | c.292A>C (p.Asn98His) c.424A>C (p.Asn142His) | |
11 | g.74457273C>A | CA381973668 | KCNE3 | c.291G>T (p.Lys97Asn) c.423G>T (p.Lys141Asn) | |
11 | g.74457273C>G | CA381973669 | KCNE3 | c.291G>C (p.Lys97Asn) c.423G>C (p.Lys141Asn) | |
11 | g.74457273C>T | CA475842723 | KCNE3 | c.291G>A (p.Lys97=) c.423G>A (p.Lys141=) | gnomAD v4 |
11 | g.74457274T>A | CA381973670 | KCNE3 | c.290A>T (p.Lys97Met) c.422A>T (p.Lys141Met) | |
11 | g.74457274T>C | CA381973671 | KCNE3 | c.290A>G (p.Lys97Arg) c.422A>G (p.Lys141Arg) | gnomAD v4 |
11 | g.74457274T>G | CA381973672 | KCNE3 | c.290A>C (p.Lys97Thr) c.422A>C (p.Lys141Thr) | |
11 | g.74457275T>A | CA381973673 | KCNE3 | c.289A>T (p.Lys97Ter) c.421A>T (p.Lys141Ter) | |
11 | g.74457275T>C | CA381973675 | KCNE3 | c.289A>G (p.Lys97Glu) c.421A>G (p.Lys141Glu) | |
11 | g.74457275T>G | CA381973674 | KCNE3 | c.289A>C (p.Lys97Gln) c.421A>C (p.Lys141Gln) | dbSNP |
11 | g.74457275T= | CA1982893239 | KCNE3 | c.289A= (p.Lys97=) c.421A= (p.Lys141=) | |
11 | g.74457276G>A | CA475842728 | KCNE3 | c.288C>T (p.Ile96=) c.420C>T (p.Ile140=) | COSMIC |
11 | g.74457276G>C | CA381973676 | KCNE3 | c.288C>G (p.Ile96Met) c.420C>G (p.Ile140Met) | |
11 | g.74457276G>T | CA475842727 | KCNE3 | c.288C>A (p.Ile96=) c.420C>A (p.Ile140=) | |
11 | g.74457277A>C | CA381973677 | KCNE3 | c.287T>G (p.Ile96Ser) c.419T>G (p.Ile140Ser) | |
11 | g.74457277A>G | CA381973678 | KCNE3 | c.287T>C (p.Ile96Thr) c.419T>C (p.Ile140Thr) | |
11 | g.74457277A>T | CA381973679 | KCNE3 | c.287T>A (p.Ile96Asn) c.419T>A (p.Ile140Asn) | |
11 | g.74457278T>A | CA381973680 | KCNE3 | c.286A>T (p.Ile96Phe) c.418A>T (p.Ile140Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74457278T>C | CA381973682 | KCNE3 | c.286A>G (p.Ile96Val) c.418A>G (p.Ile140Val) | gnomAD v4 |
11 | g.74457278T>G | CA381973681 | KCNE3 | c.286A>C (p.Ile96Leu) c.418A>C (p.Ile140Leu) | |
11 | g.74457278T= | CA1982893240 | KCNE3 | c.286A= (p.Ile96=) c.418A= (p.Ile140=) | |
11 | g.74457279A>C | CA381973683 | KCNE3 | c.285T>G (p.Tyr95Ter) c.417T>G (p.Tyr139Ter) | |
11 | g.74457279A>G | CA475842730 | KCNE3 | c.285T>C (p.Tyr95=) c.417T>C (p.Tyr139=) | |
11 | g.74457279A>T | CA381973684 | KCNE3 | c.285T>A (p.Tyr95Ter) c.417T>A (p.Tyr139Ter) | |
11 | g.74457280T>A | CA381973685 | KCNE3 | c.284A>T (p.Tyr95Phe) c.416A>T (p.Tyr139Phe) | |
11 | g.74457280T>C | CA6184821 | KCNE3 | c.284A>G (p.Tyr95Cys) c.416A>G (p.Tyr139Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74457280T>G | CA381973686 | KCNE3 | c.284A>C (p.Tyr95Ser) c.416A>C (p.Tyr139Ser) | |
11 | g.74457280T= | CA1982893241 | KCNE3 | c.284A= (p.Tyr95=) c.416A= (p.Tyr139=) | |
11 | g.74457281A>C | CA381973687 | KCNE3 | c.283T>G (p.Tyr95Asp) c.415T>G (p.Tyr139Asp) | |
11 | g.74457281A>G | CA381973688 | KCNE3 | c.283T>C (p.Tyr95His) c.415T>C (p.Tyr139His) | gnomAD v4 |
11 | g.74457281A>T | CA381973689 | KCNE3 | c.283T>A (p.Tyr95Asn) c.415T>A (p.Tyr139Asn) | |
11 | g.74457282C>A | CA475842732 | KCNE3 | c.282G>T (p.Val94=) c.414G>T (p.Val138=) | dbSNP |
11 | g.74457282C= | CA1982893242 | KCNE3 | c.282G= (p.Val94=) c.414G= (p.Val138=) | |
11 | g.74457282C>G | CA475842733 | KCNE3 | c.282G>C (p.Val94=) c.414G>C (p.Val138=) | |
11 | g.74457282C>T | CA475842734 | KCNE3 | c.282G>A (p.Val94=) c.414G>A (p.Val138=) | ClinVar gnomAD v4 |
11 | g.74457283A>C | CA381973690 | KCNE3 | c.281T>G (p.Val94Gly) c.413T>G (p.Val138Gly) | |
11 | g.74457283A>G | CA381973691 | KCNE3 | c.281T>C (p.Val94Ala) c.413T>C (p.Val138Ala) | |
11 | g.74457283A>T | CA381973692 | KCNE3 | c.281T>A (p.Val94Glu) c.413T>A (p.Val138Glu) | |
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=) |