Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175514T>A | CA400860675 | KCNJ2 | c.475T>A (p.Phe159Ile) | |
17 | g.70175514T>C | CA400860676 | KCNJ2 | c.475T>C (p.Phe159Leu) | |
17 | g.70175514T>G | CA400860677 | KCNJ2 | c.475T>G (p.Phe159Val) | |
17 | g.70175515T>A | CA400860678 | KCNJ2 | c.476T>A (p.Phe159Tyr) | |
17 | g.70175515T>C | CA400860679 | KCNJ2 | c.476T>C (p.Phe159Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175515T>G | CA400860680 | KCNJ2 | c.476T>G (p.Phe159Cys) | |
17 | g.70175515T= | CA2272996591 | KCNJ2 | c.476T= (p.Phe159=) | |
17 | g.70175516C>A | CA8738734 | KCNJ2 | c.477C>A (p.Phe159Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175516C= | CA2272996592 | KCNJ2 | c.477C= (p.Phe159=) | |
17 | g.70175516C>G | CA400860681 | KCNJ2 | c.477C>G (p.Phe159Leu) | gnomAD v4 |
17 | g.70175516C>T | CA501700723 | KCNJ2 | c.477C>T (p.Phe159=) | COSMIC |
17 | g.70175517A= | CA2272996593 | KCNJ2 | c.478A= (p.Met160=) | |
17 | g.70175517A>C | CA400860682 | KCNJ2 | c.478A>C (p.Met160Leu) | |
17 | g.70175517A>G | CA400860683 | KCNJ2 | c.478A>G (p.Met160Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175517A>T | CA400860684 | KCNJ2 | c.478A>T (p.Met160Leu) | dbSNP gnomAD v2 |
17 | g.70175518T>A | CA400860685 | KCNJ2 | c.479T>A (p.Met160Lys) | |
17 | g.70175518T>C | CA400860686 | KCNJ2 | c.479T>C (p.Met160Thr) | |
17 | g.70175518T>G | CA400860687 | KCNJ2 | c.479T>G (p.Met160Arg) | |
17 | g.70175519G>A | CA400860688 | KCNJ2 | c.480G>A (p.Met160Ile) | |
17 | g.70175519G>C | CA400860690 | KCNJ2 | c.480G>C (p.Met160Ile) | |
17 | g.70175519G>T | CA400860689 | KCNJ2 | c.480G>T (p.Met160Ile) | |
17 | g.70175520G>A | CA400860691 | KCNJ2 | c.481G>A (p.Val161Met) | ClinVar dbSNP |
17 | g.70175520G>C | CA400860692 | KCNJ2 | c.481G>C (p.Val161Leu) | |
17 | g.70175520G= | CA2272996594 | KCNJ2 | c.481G= (p.Val161=) | |
17 | g.70175520G>T | CA400860693 | KCNJ2 | c.481G>T (p.Val161Leu) | |
17 | g.70175521T>A | CA400860694 | KCNJ2 | c.482T>A (p.Val161Glu) | |
17 | g.70175521T>C | CA400860695 | KCNJ2 | c.482T>C (p.Val161Ala) | gnomAD v4 |
17 | g.70175521T>G | CA400860696 | KCNJ2 | c.482T>G (p.Val161Gly) | |
17 | g.70175522G>A | CA501700728 | KCNJ2 | c.483G>A (p.Val161=) | dbSNP |
17 | g.70175522G>C | CA501700729 | KCNJ2 | c.483G>C (p.Val161=) | gnomAD v4 |
17 | g.70175522G= | CA2272996595 | KCNJ2 | c.483G= (p.Val161=) | |
17 | g.70175522G>T | CA501700730 | KCNJ2 | c.483G>T (p.Val161=) | |
17 | g.70175523G>A | CA400860697 | KCNJ2 | c.484G>A (p.Val162Met) | dbSNP |
17 | g.70175523G>C | CA400860698 | KCNJ2 | c.484G>C (p.Val162Leu) | |
17 | g.70175523G>T | CA400860699 | KCNJ2 | c.484G>T (p.Val162Leu) | gnomAD v4 |
17 | g.70175524T>A | CA400860700 | KCNJ2 | c.485T>A (p.Val162Glu) | |
17 | g.70175524T>C | CA400860701 | KCNJ2 | c.485T>C (p.Val162Ala) | |
17 | g.70175524T>G | CA400860702 | KCNJ2 | c.485T>G (p.Val162Gly) | |
17 | g.70175525G>A | CA501700737 | KCNJ2 | c.486G>A (p.Val162=) | dbSNP |
17 | g.70175525G>C | CA501700736 | KCNJ2 | c.486G>C (p.Val162=) | |
17 | g.70175525G= | CA2272996596 | KCNJ2 | c.486G= (p.Val162=) | |
17 | g.70175525G>T | CA501700735 | KCNJ2 | c.486G>T (p.Val162=) | |
17 | g.70175527_70175532del | CA658820863 | KCNJ2 | c.488_493del (p.Phe163_Gln164del) | |
17 | g.70175526T>A | CA400860704 | KCNJ2 | c.487T>A (p.Phe163Ile) | |
17 | g.70175526T>C | CA400860705 | KCNJ2 | c.487T>C (p.Phe163Leu) | |
17 | g.70175526T>G | CA400860703 | KCNJ2 | c.487T>G (p.Phe163Val) | gnomAD v4 |
17 | g.70175527T>A | CA400860706 | KCNJ2 | c.488T>A (p.Phe163Tyr) | |
17 | g.70175527T>C | CA400860708 | KCNJ2 | c.488T>C (p.Phe163Ser) | |
17 | g.70175527T>G | CA400860707 | KCNJ2 | c.488T>G (p.Phe163Cys) | |
17 | g.70175528C>A | CA400860709 | KCNJ2 | c.489C>A (p.Phe163Leu) |