| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 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 |
| 17 | g.70175185A>T | CA400859965 | KCNJ2 | c.146A>T (p.Lys49Met) | |
| 17 | g.70175186G>A | CA8738695 | KCNJ2 | c.147G>A (p.Lys49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175186G>C | CA400859967 | KCNJ2 | c.147G>C (p.Lys49Asn) | |
| 17 | g.70175186G= | CA2272996462 | KCNJ2 | c.147G= (p.Lys49=) | |
| 17 | g.70175186G>T | CA400859968 | KCNJ2 | c.147G>T (p.Lys49Asn) | |
| 17 | g.70175187A>C | CA400859969 | KCNJ2 | c.148A>C (p.Lys50Gln) | gnomAD v4 |
| 17 | g.70175187A>G | CA400859970 | KCNJ2 | c.148A>G (p.Lys50Glu) | |
| 17 | g.70175187A>T | CA400859971 | KCNJ2 | c.148A>T (p.Lys50Ter) | |
| 17 | g.70175188A>C | CA400859972 | KCNJ2 | c.149A>C (p.Lys50Thr) | |
| 17 | g.70175188A>G | CA400859973 | KCNJ2 | c.149A>G (p.Lys50Arg) | ClinVar dbSNP |
| 17 | g.70175188A>T | CA400859974 | KCNJ2 | c.149A>T (p.Lys50Ile) | |
| 17 | g.70175189A>C | CA400859975 | KCNJ2 | c.150A>C (p.Lys50Asn) | |
| 17 | g.70175189A>G | CA501700297 | KCNJ2 | c.150A>G (p.Lys50=) | gnomAD v4 |
| 17 | g.70175189A>T | CA400859976 | KCNJ2 | c.150A>T (p.Lys50Asn) |