Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175166T>A | CA400859922 | KCNJ2 | c.127T>A (p.Cys43Ser) | |
17 | g.70175166T>C | CA400859921 | KCNJ2 | c.127T>C (p.Cys43Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.70175166T>G | CA400859920 | KCNJ2 | c.127T>G (p.Cys43Gly) | |
17 | g.70175166T= | CA2272996455 | KCNJ2 | c.127T= (p.Cys43=) | |
17 | g.70175167G>A | CA8738693 | KCNJ2 | c.128G>A (p.Cys43Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175167G>C | CA400859923 | KCNJ2 | c.128G>C (p.Cys43Ser) | |
17 | g.70175167G= | CA2272996456 | KCNJ2 | c.128G= (p.Cys43=) | |
17 | g.70175167G>T | CA293702900 | KCNJ2 | c.128G>T (p.Cys43Phe) | dbSNP |
17 | g.70175168C>A | CA400859924 | KCNJ2 | c.129C>A (p.Cys43Ter) | |
17 | g.70175168C>G | CA400859925 | KCNJ2 | c.129C>G (p.Cys43Trp) | |
17 | g.70175168C>T | CA501700258 | KCNJ2 | c.129C>T (p.Cys43=) | |
17 | g.70175169A>C | CA501700260 | KCNJ2 | c.130A>C (p.Arg44=) | |
17 | g.70175169A>G | CA400859926 | KCNJ2 | c.130A>G (p.Arg44Gly) | |
17 | g.70175169A>T | CA400859927 | KCNJ2 | c.130A>T (p.Arg44Trp) | |
17 | g.70175170G>A | CA400859928 | KCNJ2 | c.131G>A (p.Arg44Lys) | ClinVar dbSNP |
17 | g.70175170G>C | CA400859929 | KCNJ2 | c.131G>C (p.Arg44Thr) | |
17 | g.70175170G>T | CA400859930 | KCNJ2 | c.131G>T (p.Arg44Met) | |
17 | g.70175171G>A | CA8738694 | KCNJ2 | c.132G>A (p.Arg44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175171G>C | CA400859931 | KCNJ2 | c.132G>C (p.Arg44Ser) | |
17 | g.70175171G= | CA2272996457 | KCNJ2 | c.132G= (p.Arg44=) | |
17 | g.70175171G>T | CA400859932 | KCNJ2 | c.132G>T (p.Arg44Ser) | |
17 | g.70175172A>C | CA400859934 | KCNJ2 | c.133A>C (p.Ser45Arg) | |
17 | g.70175172A>G | CA400859935 | KCNJ2 | c.133A>G (p.Ser45Gly) | |
17 | g.70175172A>T | CA400859933 | KCNJ2 | c.133A>T (p.Ser45Cys) | gnomAD v4 |
17 | g.70175173G>A | CA400859936 | KCNJ2 | c.134G>A (p.Ser45Asn) | |
17 | g.70175173G>C | CA400859937 | KCNJ2 | c.134G>C (p.Ser45Thr) | |
17 | g.70175173G>T | CA400859938 | KCNJ2 | c.134G>T (p.Ser45Ile) | |
17 | g.70175174C>A | CA400859939 | KCNJ2 | c.135C>A (p.Ser45Arg) | gnomAD v4 |
17 | g.70175174C= | CA2272996458 | KCNJ2 | c.135C= (p.Ser45=) | |
17 | g.70175174C>G | CA400859940 | KCNJ2 | c.135C>G (p.Ser45Arg) | |
17 | g.70175174C>T | CA501700268 | KCNJ2 | c.135C>T (p.Ser45=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175175C>A | CA400859941 | KCNJ2 | c.136C>A (p.Arg46Ser) | dbSNP |
17 | g.70175175C= | CA2272996459 | KCNJ2 | c.136C= (p.Arg46=) | |
17 | g.70175175C>G | CA400859942 | KCNJ2 | c.136C>G (p.Arg46Gly) | ClinVar dbSNP |
17 | g.70175175C>T | CA400859943 | KCNJ2 | c.136C>T (p.Arg46Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.70175176G>A | CA400859944 | KCNJ2 | c.137G>A (p.Arg46His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175176G>C | CA400859945 | KCNJ2 | c.137G>C (p.Arg46Pro) | gnomAD v4 |
17 | g.70175176G= | CA2272996460 | KCNJ2 | c.137G= (p.Arg46=) | |
17 | g.70175176G>T | CA400859946 | KCNJ2 | c.137G>T (p.Arg46Leu) | |
17 | g.70175177C>A | CA501700273 | KCNJ2 | c.138C>A (p.Arg46=) | |
17 | g.70175177C= | CA2272996461 | KCNJ2 | c.138C= (p.Arg46=) | |
17 | g.70175177C>G | CA501700274 | KCNJ2 | c.138C>G (p.Arg46=) | |
17 | g.70175177C>T | CA293702901 | KCNJ2 | c.138C>T (p.Arg46=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175178T>A | CA400859949 | KCNJ2 | c.139T>A (p.Phe47Ile) | |
17 | g.70175178T>C | CA400859948 | KCNJ2 | c.139T>C (p.Phe47Leu) | |
17 | g.70175178T>G | CA400859947 | KCNJ2 | c.139T>G (p.Phe47Val) | |
17 | g.70175179T>A | CA400859950 | KCNJ2 | c.140T>A (p.Phe47Tyr) | |
17 | g.70175179T>C | CA400859951 | KCNJ2 | c.140T>C (p.Phe47Ser) | |
17 | g.70175179T>G | CA400859952 | KCNJ2 | c.140T>G (p.Phe47Cys) |