| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 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) | |
| 17 | g.70175180T>A | CA400859953 | KCNJ2 | c.141T>A (p.Phe47Leu) | |
| 17 | g.70175180T>C | CA501700278 | KCNJ2 | c.141T>C (p.Phe47=) | |
| 17 | g.70175180T>G | CA400859954 | KCNJ2 | c.141T>G (p.Phe47Leu) | |
| 17 | g.70175181G>A | CA400859955 | KCNJ2 | c.142G>A (p.Val48Met) | ClinVar |
| 17 | g.70175181G>C | CA400859956 | KCNJ2 | c.142G>C (p.Val48Leu) | |
| 17 | g.70175181G>T | CA400859957 | KCNJ2 | c.142G>T (p.Val48Leu) | |
| 17 | g.70175182T>A | CA400859958 | KCNJ2 | c.143T>A (p.Val48Glu) | |
| 17 | g.70175182T>C | CA400859959 | KCNJ2 | c.143T>C (p.Val48Ala) | |
| 17 | g.70175182T>G | CA400859960 | KCNJ2 | c.143T>G (p.Val48Gly) | |
| 17 | g.70175183G>A | CA501700284 | KCNJ2 | c.144G>A (p.Val48=) | |
| 17 | g.70175183G>C | CA501700285 | KCNJ2 | c.144G>C (p.Val48=) | |
| 17 | g.70175183G>T | CA501700286 | KCNJ2 | c.144G>T (p.Val48=) | |
| 17 | g.70175184A>C | CA400859963 | KCNJ2 | c.145A>C (p.Lys49Gln) | |
| 17 | g.70175184A>G | CA400859962 | KCNJ2 | c.145A>G (p.Lys49Glu) | |
| 17 | g.70175184A>T | CA400859961 | KCNJ2 | c.145A>T (p.Lys49Ter) | |
| 17 | g.70175185A>C | CA400859964 | KCNJ2 | c.146A>C (p.Lys49Thr) | |
| 17 | g.70175185A>G | CA400859966 | KCNJ2 | c.146A>G (p.Lys49Arg) | gnomAD v4 |