Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.70175758G>A | CA400861781 | KCNJ2 | c.719G>A (p.Gly240Glu) | |
17 | g.70175758G>C | CA400861783 | KCNJ2 | c.719G>C (p.Gly240Ala) | |
17 | g.70175758G>T | CA400861785 | KCNJ2 | c.719G>T (p.Gly240Val) | |
17 | g.70175759G>A | CA501700858 | KCNJ2 | c.720G>A (p.Gly240=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175759G>C | CA501700859 | KCNJ2 | c.720G>C (p.Gly240=) | |
17 | g.70175759G= | CA2272996675 | KCNJ2 | c.720G= (p.Gly240=) | |
17 | g.70175759G>T | CA501700860 | KCNJ2 | c.720G>T (p.Gly240=) | |
17 | g.70175760G>A | CA400861790 | KCNJ2 | c.721G>A (p.Glu241Lys) | ClinVar |
17 | g.70175760G>C | CA400861786 | KCNJ2 | c.721G>C (p.Glu241Gln) | |
17 | g.70175760G>T | CA400861788 | KCNJ2 | c.721G>T (p.Glu241Ter) | |
17 | g.70175761_70175762insTATACTCCAGAGA | CA2576374382 | KCNJ2 | c.722_723insTATACTCCAGAGA (p.Glu241AspfsTer19) | |
17 | g.70175761A>C | CA400861792 | KCNJ2 | c.722A>C (p.Glu241Ala) | |
17 | g.70175761A>G | CA400861794 | KCNJ2 | c.722A>G (p.Glu241Gly) | |
17 | g.70175761A>T | CA400861796 | KCNJ2 | c.722A>T (p.Glu241Val) | |
17 | g.70175762G>A | CA501700862 | KCNJ2 | c.723G>A (p.Glu241=) | ClinVar dbSNP |