Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175735C>A | CA501700837 | KCNJ2 | c.696C>A (p.Leu232=) | |
17 | g.70175735C>G | CA501700838 | KCNJ2 | c.696C>G (p.Leu232=) | |
17 | g.70175735C>T | CA501700839 | KCNJ2 | c.696C>T (p.Leu232=) | ClinVar |
17 | g.70175736A>C | CA400861683 | KCNJ2 | c.697A>C (p.Lys233Gln) | |
17 | g.70175736A>G | CA400861685 | KCNJ2 | c.697A>G (p.Lys233Glu) | gnomAD v4 |
17 | g.70175736A>T | CA400861688 | KCNJ2 | c.697A>T (p.Lys233Ter) | |
17 | g.70175737A>C | CA400861690 | KCNJ2 | c.698A>C (p.Lys233Thr) | |
17 | g.70175737A>G | CA400861692 | KCNJ2 | c.698A>G (p.Lys233Arg) | |
17 | g.70175737A>T | CA400861694 | KCNJ2 | c.698A>T (p.Lys233Ile) | |
17 | g.70175738A>C | CA400861696 | KCNJ2 | c.699A>C (p.Lys233Asn) | |
17 | g.70175738A>G | CA501700840 | KCNJ2 | c.699A>G (p.Lys233=) | ClinVar |
17 | g.70175738A>T | CA400861698 | KCNJ2 | c.699A>T (p.Lys233Asn) | |
17 | g.70175739T>A | CA400861701 | KCNJ2 | c.700T>A (p.Ser234Thr) | |
17 | g.70175739T>C | CA400861703 | KCNJ2 | c.700T>C (p.Ser234Pro) | |
17 | g.70175739T>G | CA400861704 | KCNJ2 | c.700T>G (p.Ser234Ala) | |
17 | g.70175740C>A | CA400861710 | KCNJ2 | c.701C>A (p.Ser234Tyr) | |
17 | g.70175740C>G | CA400861706 | KCNJ2 | c.701C>G (p.Ser234Cys) | |
17 | g.70175740C>T | CA400861708 | KCNJ2 | c.701C>T (p.Ser234Phe) | gnomAD v4 |
17 | g.70175741C>A | CA501700841 | KCNJ2 | c.702C>A (p.Ser234=) | |
17 | g.70175741C>G | CA501700842 | KCNJ2 | c.702C>G (p.Ser234=) | |
17 | g.70175741C>T | CA501700843 | KCNJ2 | c.702C>T (p.Ser234=) | gnomAD v4 |
17 | g.70175742A= | CA2272996670 | KCNJ2 | c.703A= (p.Arg235=) | |
17 | g.70175742A>C | CA501700844 | KCNJ2 | c.703A>C (p.Arg235=) | |
17 | g.70175742A>G | CA400861711 | KCNJ2 | c.703A>G (p.Arg235Gly) | dbSNP |
17 | g.70175742A>T | CA400861713 | KCNJ2 | c.703A>T (p.Arg235Ter) | |
17 | g.70175743G>A | CA400861714 | KCNJ2 | c.704G>A (p.Arg235Lys) | |
17 | g.70175743G>C | CA400861718 | KCNJ2 | c.704G>C (p.Arg235Thr) | |
17 | g.70175743G>T | CA400861716 | KCNJ2 | c.704G>T (p.Arg235Ile) | |
17 | g.70175744A>C | CA400861719 | KCNJ2 | c.705A>C (p.Arg235Ser) | |
17 | g.70175744A>G | CA501700845 | KCNJ2 | c.705A>G (p.Arg235=) | |
17 | g.70175744A>T | CA400861721 | KCNJ2 | c.705A>T (p.Arg235Ser) | |
17 | g.70175745A>C | CA400861723 | KCNJ2 | c.706A>C (p.Ile236Leu) | ClinVar gnomAD v4 |
17 | g.70175745A>G | CA400861725 | KCNJ2 | c.706A>G (p.Ile236Val) | |
17 | g.70175745A>T | CA400861727 | KCNJ2 | c.706A>T (p.Ile236Phe) | |
17 | g.70175746T>A | CA400861730 | KCNJ2 | c.707T>A (p.Ile236Asn) | |
17 | g.70175746T>C | CA400861731 | KCNJ2 | c.707T>C (p.Ile236Thr) | |
17 | g.70175746T>G | CA400861733 | KCNJ2 | c.707T>G (p.Ile236Ser) | |
17 | g.70175747T>A | CA501700846 | KCNJ2 | c.708T>A (p.Ile236=) | |
17 | g.70175747T>C | CA501700847 | KCNJ2 | c.708T>C (p.Ile236=) | |
17 | g.70175747T>G | CA400861735 | KCNJ2 | c.708T>G (p.Ile236Met) | |
17 | g.70175748A>C | CA400861737 | KCNJ2 | c.709A>C (p.Thr237Pro) | |
17 | g.70175748A>G | CA400861738 | KCNJ2 | c.709A>G (p.Thr237Ala) | |
17 | g.70175748A>T | CA400861740 | KCNJ2 | c.709A>T (p.Thr237Ser) | |
17 | g.70175749C>A | CA400861745 | KCNJ2 | c.710C>A (p.Thr237Asn) | |
17 | g.70175749C= | CA2272996671 | KCNJ2 | c.710C= (p.Thr237=) | |
17 | g.70175749C>G | CA400861743 | KCNJ2 | c.710C>G (p.Thr237Ser) | |
17 | g.70175749C>T | CA8738759 | KCNJ2 | c.710C>T (p.Thr237Ile) | dbSNP ExAC gnomAD v2 |
17 | g.70175750T>A | CA501700848 | KCNJ2 | c.711T>A (p.Thr237=) | |
17 | g.70175750T>C | CA501700849 | KCNJ2 | c.711T>C (p.Thr237=) | gnomAD v4 |
17 | g.70175750T>G | CA501700850 | KCNJ2 | c.711T>G (p.Thr237=) |