Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
17 | g.70175528C>G | CA400860710 | KCNJ2 | c.489C>G (p.Phe163Leu) | |
17 | g.70175528C>T | CA501700741 | KCNJ2 | c.489C>T (p.Phe163=) | ClinVar |
17 | g.70175529C>A | CA400860711 | KCNJ2 | c.490C>A (p.Gln164Lys) | |
17 | g.70175529C>G | CA400860713 | KCNJ2 | c.490C>G (p.Gln164Glu) | |
17 | g.70175529C>T | CA400860712 | KCNJ2 | c.490C>T (p.Gln164Ter) | |
17 | g.70175530A>C | CA400860714 | KCNJ2 | c.491A>C (p.Gln164Pro) | |
17 | g.70175530A>G | CA400860716 | KCNJ2 | c.491A>G (p.Gln164Arg) | |
17 | g.70175530A>T | CA400860715 | KCNJ2 | c.491A>T (p.Gln164Leu) | |
17 | g.70175531G>A | CA501700744 | KCNJ2 | c.492G>A (p.Gln164=) | |
17 | g.70175531G>C | CA400860717 | KCNJ2 | c.492G>C (p.Gln164His) | |
17 | g.70175531G>T | CA400860718 | KCNJ2 | c.492G>T (p.Gln164His) | |
17 | g.70175532T>A | CA400860719 | KCNJ2 | c.493T>A (p.Ser165Thr) | |
17 | g.70175532T>C | CA400860720 | KCNJ2 | c.493T>C (p.Ser165Pro) | |
17 | g.70175532T>G | CA400860721 | KCNJ2 | c.493T>G (p.Ser165Ala) | |
17 | g.70175533C>A | CA400860722 | KCNJ2 | c.494C>A (p.Ser165Ter) | |
17 | g.70175533C>G | CA400860723 | KCNJ2 | c.494C>G (p.Ser165Ter) | |
17 | g.70175533C>T | CA400860724 | KCNJ2 | c.494C>T (p.Ser165Leu) | ClinVar |
17 | g.70175534A>C | CA501700750 | KCNJ2 | c.495A>C (p.Ser165=) | |
17 | g.70175534A>G | CA501700751 | KCNJ2 | c.495A>G (p.Ser165=) | |
17 | g.70175534A>T | CA501700752 | KCNJ2 | c.495A>T (p.Ser165=) | |
17 | g.70175535A= | CA2272996597 | KCNJ2 | c.496A= (p.Ile166=) | |
17 | g.70175535A>C | CA400860727 | KCNJ2 | c.496A>C (p.Ile166Leu) | |
17 | g.70175535A>G | CA400860725 | KCNJ2 | c.496A>G (p.Ile166Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175535A>T | CA400860726 | KCNJ2 | c.496A>T (p.Ile166Phe) | |
17 | g.70175539_70175553dup | CA2573154860 | KCNJ2 | c.500_514dup (p.Ile171_Asp172insValGlyCysIleIle) | ClinVar dbSNP |
17 | g.70175536T>A | CA400860728 | KCNJ2 | c.497T>A (p.Ile166Asn) | |
17 | g.70175536T>C | CA400860729 | KCNJ2 | c.497T>C (p.Ile166Thr) | |
17 | g.70175536T>G | CA400860730 | KCNJ2 | c.497T>G (p.Ile166Ser) | |
17 | g.70175537C>A | CA501700753 | KCNJ2 | c.498C>A (p.Ile166=) | gnomAD v3 gnomAD v4 |
17 | g.70175537C= | CA2272996598 | KCNJ2 | c.498C= (p.Ile166=) | |
17 | g.70175537C>G | CA400860731 | KCNJ2 | c.498C>G (p.Ile166Met) | dbSNP |
17 | g.70175537C>T | CA8738735 | KCNJ2 | c.498C>T (p.Ile166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175538G>A | CA8738736 | KCNJ2 | c.499G>A (p.Val167Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175538G>C | CA400860733 | KCNJ2 | c.499G>C (p.Val167Leu) | gnomAD v4 |
17 | g.70175538G= | CA2272996599 | KCNJ2 | c.499G= (p.Val167=) | |
17 | g.70175538G>T | CA400860735 | KCNJ2 | c.499G>T (p.Val167Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.70175539T>A | CA400860738 | KCNJ2 | c.500T>A (p.Val167Glu) | |
17 | g.70175539T>C | CA400860740 | KCNJ2 | c.500T>C (p.Val167Ala) | |
17 | g.70175539T>G | CA400860742 | KCNJ2 | c.500T>G (p.Val167Gly) | |
17 | g.70175540G>A | CA501700764 | KCNJ2 | c.501G>A (p.Val167=) | gnomAD v4 |
17 | g.70175540G>C | CA501700762 | KCNJ2 | c.501G>C (p.Val167=) | |
17 | g.70175540G>T | CA501700761 | KCNJ2 | c.501G>T (p.Val167=) |