Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
17 | g.70175751T>A | CA400861748 | KCNJ2 | c.712T>A (p.Ser238Thr) | |
17 | g.70175751T>C | CA400861749 | KCNJ2 | c.712T>C (p.Ser238Pro) | |
17 | g.70175751T>G | CA400861752 | KCNJ2 | c.712T>G (p.Ser238Ala) | |
17 | g.70175752C>A | CA400861754 | KCNJ2 | c.713C>A (p.Ser238Tyr) | |
17 | g.70175752C>G | CA400861756 | KCNJ2 | c.713C>G (p.Ser238Cys) | |
17 | g.70175752C>T | CA400861758 | KCNJ2 | c.713C>T (p.Ser238Phe) | |
17 | g.70175753T>A | CA501700851 | KCNJ2 | c.714T>A (p.Ser238=) | |
17 | g.70175753T>C | CA501700853 | KCNJ2 | c.714T>C (p.Ser238=) | gnomAD v4 |
17 | g.70175753T>G | CA501700852 | KCNJ2 | c.714T>G (p.Ser238=) | |
17 | g.70175754G>A | CA400861759 | KCNJ2 | c.715G>A (p.Glu239Lys) | |
17 | g.70175754G>C | CA400861762 | KCNJ2 | c.715G>C (p.Glu239Gln) | |
17 | g.70175754G= | CA2272996672 | KCNJ2 | c.715G= (p.Glu239=) | |
17 | g.70175754G>T | CA400861763 | KCNJ2 | c.715G>T (p.Glu239Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.70175755A>C | CA400861766 | KCNJ2 | c.716A>C (p.Glu239Ala) | |
17 | g.70175755A>G | CA400861767 | KCNJ2 | c.716A>G (p.Glu239Gly) | gnomAD v4 |
17 | g.70175755A>T | CA400861769 | KCNJ2 | c.716A>T (p.Glu239Val) | |
17 | g.70175756A= | CA2272996673 | KCNJ2 | c.717A= (p.Glu239=) | |
17 | g.70175756A>C | CA400861771 | KCNJ2 | c.717A>C (p.Glu239Asp) | |
17 | g.70175756A>G | CA501700854 | KCNJ2 | c.717A>G (p.Glu239=) | |
17 | g.70175756A>T | CA293702922 | KCNJ2 | c.717A>T (p.Glu239Asp) | dbSNP |
17 | g.70175756_70175757delinsAG | CA2272996674 | KCNJ2 | c.717_718delinsAG (p.Glu239=) | |
17 | g.70175757G>A | CA400861775 | KCNJ2 | c.718G>A (p.Gly240Arg) | COSMIC |
17 | g.70175757G>C | CA400861777 | KCNJ2 | c.718G>C (p.Gly240Arg) | |
17 | g.70175757G>T | CA400861778 | KCNJ2 | c.718G>T (p.Gly240Trp) | |
17 | g.70175760del | CA1139665861 | KCNJ2 | c.721del (p.Glu241SerfsTer8) | ClinVar dbSNP |