| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 17 | g.70175162_70175164del | CA627589830 | KCNJ2 | c.123_125del (p.Gln42del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.70175162A>C | CA400859910 | KCNJ2 | c.123A>C (p.Gln41His) | |
| 17 | g.70175162A>G | CA501700250 | KCNJ2 | c.123A>G (p.Gln41=) | |
| 17 | g.70175162A>T | CA400859911 | KCNJ2 | c.123A>T (p.Gln41His) | |
| 17 | g.70175163C>A | CA400859912 | KCNJ2 | c.124C>A (p.Gln42Lys) | |
| 17 | g.70175163C>G | CA400859913 | KCNJ2 | c.124C>G (p.Gln42Glu) | |
| 17 | g.70175163C>T | CA400859914 | KCNJ2 | c.124C>T (p.Gln42Ter) | |
| 17 | g.70175164A>C | CA400859915 | KCNJ2 | c.125A>C (p.Gln42Pro) | |
| 17 | g.70175164A>G | CA400859916 | KCNJ2 | c.125A>G (p.Gln42Arg) | |
| 17 | g.70175164A>T | CA400859917 | KCNJ2 | c.125A>T (p.Gln42Leu) | |
| 17 | g.70175165G>A | CA501700254 | KCNJ2 | c.126G>A (p.Gln42=) | ClinVar dbSNP |
| 17 | g.70175165G>C | CA400859918 | KCNJ2 | c.126G>C (p.Gln42His) | |
| 17 | g.70175165G>T | CA400859919 | KCNJ2 | c.126G>T (p.Gln42His) | |
| 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 |