Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
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) | |
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) | |
17 | g.70175190G>A | CA400859979 | KCNJ2 | c.151G>A (p.Asp51Asn) | |
17 | g.70175190G>C | CA400859977 | KCNJ2 | c.151G>C (p.Asp51His) | COSMIC |
17 | g.70175190G>T | CA400859978 | KCNJ2 | c.151G>T (p.Asp51Tyr) | |
17 | g.70175191A= | CA2272996463 | KCNJ2 | c.152A= (p.Asp51=) | |
17 | g.70175191A>C | CA400859980 | KCNJ2 | c.152A>C (p.Asp51Ala) | |
17 | g.70175191A>G | CA400859981 | KCNJ2 | c.152A>G (p.Asp51Gly) | dbSNP |
17 | g.70175191A>T | CA400859982 | KCNJ2 | c.152A>T (p.Asp51Val) | |
17 | g.70175192T>A | CA400859983 | KCNJ2 | c.153T>A (p.Asp51Glu) | |
17 | g.70175192T>C | CA501700299 | KCNJ2 | c.153T>C (p.Asp51=) | gnomAD v4 |
17 | g.70175192T>G | CA400859984 | KCNJ2 | c.153T>G (p.Asp51Glu) | |
17 | g.70175193G>A | CA400859985 | KCNJ2 | c.154G>A (p.Gly52Ser) | |
17 | g.70175193G>C | CA400859986 | KCNJ2 | c.154G>C (p.Gly52Arg) | |
17 | g.70175193G>T | CA400859987 | KCNJ2 | c.154G>T (p.Gly52Cys) | |
17 | g.70175194G>A | CA400859988 | KCNJ2 | c.155G>A (p.Gly52Asp) | |
17 | g.70175194G>C | CA400859989 | KCNJ2 | c.155G>C (p.Gly52Ala) | |
17 | g.70175194G= | CA2272996464 | KCNJ2 | c.155G= (p.Gly52=) | |
17 | g.70175194G>T | CA400859990 | KCNJ2 | c.155G>T (p.Gly52Val) | ClinVar dbSNP |
17 | g.70175195C>A | CA501700302 | KCNJ2 | c.156C>A (p.Gly52=) | |
17 | g.70175195C>G | CA501700303 | KCNJ2 | c.156C>G (p.Gly52=) | |
17 | g.70175195C>T | CA501700304 | KCNJ2 | c.156C>T (p.Gly52=) | |
17 | g.70175196C>A | CA400859992 | KCNJ2 | c.157C>A (p.His53Asn) | |
17 | g.70175196C>G | CA400859993 | KCNJ2 | c.157C>G (p.His53Asp) | |
17 | g.70175196C>T | CA400859991 | KCNJ2 | c.157C>T (p.His53Tyr) | |
17 | g.70175197A= | CA2272996465 | KCNJ2 | c.158A= (p.His53=) | |
17 | g.70175197A>C | CA400859994 | KCNJ2 | c.158A>C (p.His53Pro) | |
17 | g.70175197A>G | CA400859995 | KCNJ2 | c.158A>G (p.His53Arg) | ClinVar dbSNP |
17 | g.70175197A>T | CA400859996 | KCNJ2 | c.158A>T (p.His53Leu) | |
17 | g.70175198C>A | CA400859997 | KCNJ2 | c.159C>A (p.His53Gln) | |
17 | g.70175198C>G | CA400859998 | KCNJ2 | c.159C>G (p.His53Gln) | |
17 | g.70175198C>T | CA501700316 | KCNJ2 | c.159C>T (p.His53=) | |
17 | g.70175199T>A | CA400859999 | KCNJ2 | c.160T>A (p.Cys54Ser) | |
17 | g.70175199T>C | CA400860000 | KCNJ2 | c.160T>C (p.Cys54Arg) | |
17 | g.70175199T>G | CA400860001 | KCNJ2 | c.160T>G (p.Cys54Gly) | ClinVar dbSNP |
17 | g.70175200G>A | CA400860002 | KCNJ2 | c.161G>A (p.Cys54Tyr) | |
17 | g.70175200G>C | CA400860003 | KCNJ2 | c.161G>C (p.Cys54Ser) | |
17 | g.70175200G= | CA2272996466 | KCNJ2 | c.161G= (p.Cys54=) | |
17 | g.70175200G>T | CA145011 | KCNJ2 | c.161G>T (p.Cys54Phe) | ClinVar dbSNP |
17 | g.70175201T>A | CA400860004 | KCNJ2 | c.162T>A (p.Cys54Ter) | |
17 | g.70175201T>C | CA501700317 | KCNJ2 | c.162T>C (p.Cys54=) | |
17 | g.70175201T>G | CA400860005 | KCNJ2 | c.162T>G (p.Cys54Trp) | |
17 | g.70175201T= | CA2272996467 | KCNJ2 | c.162T= (p.Cys54=) | |
17 | g.70175202A>C | CA400860007 | KCNJ2 | c.163A>C (p.Asn55His) | |
17 | g.70175202A>G | CA400860008 | KCNJ2 | c.163A>G (p.Asn55Asp) | |
17 | g.70175202A>T | CA400860006 | KCNJ2 | c.163A>T (p.Asn55Tyr) | |
17 | g.70175203dup | CA293702902 | KCNJ2 | c.164dup (p.Asn55LysfsTer9) | dbSNP |
17 | g.70175203A= | CA2272996468 | KCNJ2 | c.164A= (p.Asn55=) | |
17 | g.70175203A>C | CA400860009 | KCNJ2 | c.164A>C (p.Asn55Thr) | |
17 | g.70175203A>G | CA400860010 | KCNJ2 | c.164A>G (p.Asn55Ser) | |
17 | g.70175203A>T | CA400860011 | KCNJ2 | c.164A>T (p.Asn55Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175204T>A | CA400860012 | KCNJ2 | c.165T>A (p.Asn55Lys) | |
17 | g.70175204T>C | CA8738696 | KCNJ2 | c.165T>C (p.Asn55=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175204T>G | CA400860013 | KCNJ2 | c.165T>G (p.Asn55Lys) | |
17 | g.70175204T= | CA2272996469 | KCNJ2 | c.165T= (p.Asn55=) | |
17 | g.70175205G>A | CA400860014 | KCNJ2 | c.166G>A (p.Val56Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175205G>C | CA400860015 | KCNJ2 | c.166G>C (p.Val56Leu) | |
17 | g.70175205G= | CA2272996470 | KCNJ2 | c.166G= (p.Val56=) | |
17 | g.70175205G>T | CA400860016 | KCNJ2 | c.166G>T (p.Val56Phe) | |
17 | g.70175206T>A | CA400860017 | KCNJ2 | c.167T>A (p.Val56Asp) | |
17 | g.70175206T>C | CA400860018 | KCNJ2 | c.167T>C (p.Val56Ala) | dbSNP |
17 | g.70175206T>G | CA400860019 | KCNJ2 | c.167T>G (p.Val56Gly) | |
17 | g.70175206T= | CA2272996471 | KCNJ2 | c.167T= (p.Val56=) | |
17 | g.70175207T>A | CA501700318 | KCNJ2 | c.168T>A (p.Val56=) | |
17 | g.70175207T>C | CA8738697 | KCNJ2 | c.168T>C (p.Val56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175207T>G | CA501700319 | KCNJ2 | c.168T>G (p.Val56=) | |
17 | g.70175207T= | CA2272996472 | KCNJ2 | c.168T= (p.Val56=) | |
17 | g.70175208C>A | CA400860021 | KCNJ2 | c.169C>A (p.Gln57Lys) | |
17 | g.70175208C>G | CA400860020 | KCNJ2 | c.169C>G (p.Gln57Glu) | |
17 | g.70175208C>T | CA400860022 | KCNJ2 | c.169C>T (p.Gln57Ter) | ClinVar |
17 | g.70175209A= | CA2272996473 | KCNJ2 | c.170A= (p.Gln57=) | |
17 | g.70175209A>C | CA400860023 | KCNJ2 | c.170A>C (p.Gln57Pro) | |
17 | g.70175209A>G | CA400860024 | KCNJ2 | c.170A>G (p.Gln57Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175209A>T | CA400860025 | KCNJ2 | c.170A>T (p.Gln57Leu) | |
17 | g.70175210G>A | CA501700320 | KCNJ2 | c.171G>A (p.Gln57=) | |
17 | g.70175210G>C | CA400860026 | KCNJ2 | c.171G>C (p.Gln57His) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175210G= | CA2272996474 | KCNJ2 | c.171G= (p.Gln57=) | |
17 | g.70175210G>T | CA400860027 | KCNJ2 | c.171G>T (p.Gln57His) | ClinVar |
17 | g.70175211T>A | CA400860030 | KCNJ2 | c.172T>A (p.Phe58Ile) | dbSNP gnomAD v4 |
17 | g.70175211T>C | CA400860029 | KCNJ2 | c.172T>C (p.Phe58Leu) | |
17 | g.70175211T>G | CA400860028 | KCNJ2 | c.172T>G (p.Phe58Val) | |
17 | g.70175211T= | CA2272996475 | KCNJ2 | c.172T= (p.Phe58=) | |
17 | g.70175212T>A | CA400860031 | KCNJ2 | c.173T>A (p.Phe58Tyr) | |
17 | g.70175212T>C | CA400860032 | KCNJ2 | c.173T>C (p.Phe58Ser) | |
17 | g.70175212T>G | CA400860033 | KCNJ2 | c.173T>G (p.Phe58Cys) | |
17 | g.70175213C>A | CA400860034 | KCNJ2 | c.174C>A (p.Phe58Leu) | |
17 | g.70175213C= | CA2272996476 | KCNJ2 | c.174C= (p.Phe58=) | |
17 | g.70175213C>G | CA400860035 | KCNJ2 | c.174C>G (p.Phe58Leu) | |
17 | g.70175213C>T | CA291730 | KCNJ2 | c.174C>T (p.Phe58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175214A>C | CA400860038 | KCNJ2 | c.175A>C (p.Ile59Leu) | |
17 | g.70175214A>G | CA400860036 | KCNJ2 | c.175A>G (p.Ile59Val) | |
17 | g.70175214A>T | CA400860037 | KCNJ2 | c.175A>T (p.Ile59Phe) | |
17 | g.70175215T>A | CA400860039 | KCNJ2 | c.176T>A (p.Ile59Asn) | |
17 | g.70175215T>C | CA400860040 | KCNJ2 | c.176T>C (p.Ile59Thr) | |
17 | g.70175215T>G | CA293702903 | KCNJ2 | c.176T>G (p.Ile59Ser) | dbSNP |
17 | g.70175215T= | CA2272996477 | KCNJ2 | c.176T= (p.Ile59=) | |
17 | g.70175216C>A | CA293702904 | KCNJ2 | c.177C>A (p.Ile59=) | dbSNP |
17 | g.70175216C= | CA2272996478 | KCNJ2 | c.177C= (p.Ile59=) | |
17 | g.70175216C>G | CA400860041 | KCNJ2 | c.177C>G (p.Ile59Met) | |
17 | g.70175216C>T | CA501700321 | KCNJ2 | c.177C>T (p.Ile59=) | |
17 | g.70175217A>C | CA400860042 | KCNJ2 | c.178A>C (p.Asn60His) | gnomAD v4 |
17 | g.70175217A>G | CA400860043 | KCNJ2 | c.178A>G (p.Asn60Asp) | |
17 | g.70175217A>T | CA400860044 | KCNJ2 | c.178A>T (p.Asn60Tyr) | |
17 | g.70175218A= | CA2272996479 | KCNJ2 | c.179A= (p.Asn60=) | |
17 | g.70175218A>C | CA400860045 | KCNJ2 | c.179A>C (p.Asn60Thr) | |
17 | g.70175218A>G | CA400860046 | KCNJ2 | c.179A>G (p.Asn60Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175218A>T | CA400860047 | KCNJ2 | c.179A>T (p.Asn60Ile) | gnomAD v4 |
17 | g.70175219T>A | CA400860048 | KCNJ2 | c.180T>A (p.Asn60Lys) | |
17 | g.70175219T>C | CA501700322 | KCNJ2 | c.180T>C (p.Asn60=) | gnomAD v4 |
17 | g.70175219T>G | CA400860049 | KCNJ2 | c.180T>G (p.Asn60Lys) | |
17 | g.70175220G>A | CA400860052 | KCNJ2 | c.181G>A (p.Val61Met) | |
17 | g.70175220G>C | CA400860050 | KCNJ2 | c.181G>C (p.Val61Leu) | |
17 | g.70175220G>T | CA400860051 | KCNJ2 | c.181G>T (p.Val61Leu) | gnomAD v4 |
17 | g.70175221T>A | CA400860053 | KCNJ2 | c.182T>A (p.Val61Glu) | |
17 | g.70175221T>C | CA400860054 | KCNJ2 | c.182T>C (p.Val61Ala) | |
17 | g.70175221T>G | CA400860055 | KCNJ2 | c.182T>G (p.Val61Gly) | |
17 | g.70175222G>A | CA501700325 | KCNJ2 | c.183G>A (p.Val61=) | |
17 | g.70175222G>C | CA501700324 | KCNJ2 | c.183G>C (p.Val61=) | |
17 | g.70175222G>T | CA501700323 | KCNJ2 | c.183G>T (p.Val61=) | |
17 | g.70175223G>A | CA400860056 | KCNJ2 | c.184G>A (p.Gly62Ser) | |
17 | g.70175223G>C | CA400860057 | KCNJ2 | c.184G>C (p.Gly62Arg) | |
17 | g.70175223G>T | CA400860058 | KCNJ2 | c.184G>T (p.Gly62Cys) | |
17 | g.70175224G>A | CA400860059 | KCNJ2 | c.185G>A (p.Gly62Asp) | |
17 | g.70175224G>C | CA400860060 | KCNJ2 | c.185G>C (p.Gly62Ala) | |
17 | g.70175224G>T | CA400860061 | KCNJ2 | c.185G>T (p.Gly62Val) | |
17 | g.70175225T>A | CA501700326 | KCNJ2 | c.186T>A (p.Gly62=) | |
17 | g.70175225T>C | CA501700327 | KCNJ2 | c.186T>C (p.Gly62=) | ClinVar dbSNP gnomAD v4 |
17 | g.70175225T>G | CA501700328 | KCNJ2 | c.186T>G (p.Gly62=) | gnomAD v4 |
17 | g.70175226G>A | CA400860062 | KCNJ2 | c.187G>A (p.Glu63Lys) | dbSNP |
17 | g.70175226G>C | CA400860063 | KCNJ2 | c.187G>C (p.Glu63Gln) | |
17 | g.70175226G>T | CA400860064 | KCNJ2 | c.187G>T (p.Glu63Ter) | COSMIC |
17 | g.70175227A>C | CA400860067 | KCNJ2 | c.188A>C (p.Glu63Ala) | |
17 | g.70175227A>G | CA400860066 | KCNJ2 | c.188A>G (p.Glu63Gly) | COSMIC |
17 | g.70175227A>T | CA400860065 | KCNJ2 | c.188A>T (p.Glu63Val) | |
17 | g.70175228G>A | CA501700329 | KCNJ2 | c.189G>A (p.Glu63=) | gnomAD v4 |
17 | g.70175228G>C | CA400860068 | KCNJ2 | c.189G>C (p.Glu63Asp) | |
17 | g.70175228G>T | CA400860069 | KCNJ2 | c.189G>T (p.Glu63Asp) | |
17 | g.70175229A>C | CA400860070 | KCNJ2 | c.190A>C (p.Lys64Gln) | |
17 | g.70175229A>G | CA400860071 | KCNJ2 | c.190A>G (p.Lys64Glu) | |
17 | g.70175229A>T | CA400860072 | KCNJ2 | c.190A>T (p.Lys64Ter) | |
17 | g.70175230A>C | CA400860073 | KCNJ2 | c.191A>C (p.Lys64Thr) | |
17 | g.70175230A>G | CA400860074 | KCNJ2 | c.191A>G (p.Lys64Arg) | ClinVar dbSNP |
17 | g.70175230A>T | CA400860075 | KCNJ2 | c.191A>T (p.Lys64Met) | |
17 | g.70175231G>A | CA501700330 | KCNJ2 | c.192G>A (p.Lys64=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175231G>C | CA400860076 | KCNJ2 | c.192G>C (p.Lys64Asn) | |
17 | g.70175231G= | CA2272996480 | KCNJ2 | c.192G= (p.Lys64=) | |
17 | g.70175231G>T | CA400860077 | KCNJ2 | c.192G>T (p.Lys64Asn) | |
17 | g.70175232G>A | CA400860078 | KCNJ2 | c.193G>A (p.Gly65Arg) | |
17 | g.70175232G>C | CA400860079 | KCNJ2 | c.193G>C (p.Gly65Arg) | |
17 | g.70175232G>T | CA400860080 | KCNJ2 | c.193G>T (p.Gly65Trp) | |
17 | g.70175233G>A | CA400860082 | KCNJ2 | c.194G>A (p.Gly65Glu) | |
17 | g.70175233G>C | CA400860083 | KCNJ2 | c.194G>C (p.Gly65Ala) | |
17 | g.70175233G>T | CA400860081 | KCNJ2 | c.194G>T (p.Gly65Val) | dbSNP |
17 | g.70175234G>A | CA501700331 | KCNJ2 | c.195G>A (p.Gly65=) | |
17 | g.70175234G>C | CA501700332 | KCNJ2 | c.195G>C (p.Gly65=) | |
17 | g.70175234G>T | CA501700333 | KCNJ2 | c.195G>T (p.Gly65=) | |
17 | g.70175235C>A | CA400860084 | KCNJ2 | c.196C>A (p.Gln66Lys) | |
17 | g.70175235C>G | CA400860086 | KCNJ2 | c.196C>G (p.Gln66Glu) | |
17 | g.70175235C>T | CA400860085 | KCNJ2 | c.196C>T (p.Gln66Ter) | |
17 | g.70175236A>C | CA400860087 | KCNJ2 | c.197A>C (p.Gln66Pro) | |
17 | g.70175236A>G | CA400860088 | KCNJ2 | c.197A>G (p.Gln66Arg) | |
17 | g.70175236A>T | CA400860089 | KCNJ2 | c.197A>T (p.Gln66Leu) | |
17 | g.70175237A>C | CA400860090 | KCNJ2 | c.198A>C (p.Gln66His) | |
17 | g.70175237A>G | CA501700334 | KCNJ2 | c.198A>G (p.Gln66=) | |
17 | g.70175237A>T | CA400860091 | KCNJ2 | c.198A>T (p.Gln66His) | |
17 | g.70175238C>A | CA8738698 | KCNJ2 | c.199C>A (p.Arg67=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.70175238C= | CA2272996481 | KCNJ2 | c.199C= (p.Arg67=) | |
17 | g.70175238C>G | CA400860092 | KCNJ2 | c.199C>G (p.Arg67Gly) | |
17 | g.70175238C>T | CA302015 | KCNJ2 | c.199C>T (p.Arg67Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.70175239G>A | CA302017 | KCNJ2 | c.200G>A (p.Arg67Gln) | ClinVar dbSNP ExAC COSMIC |
17 | g.70175239G>C | CA400860093 | KCNJ2 | c.200G>C (p.Arg67Pro) | |
17 | g.70175239G= | CA2272996482 | KCNJ2 | c.200G= (p.Arg67=) | |
17 | g.70175239G>T | CA400860094 | KCNJ2 | c.200G>T (p.Arg67Leu) | |
17 | g.70175240G>A | CA501700335 | KCNJ2 | c.201G>A (p.Arg67=) | |
17 | g.70175240G>C | CA501700336 | KCNJ2 | c.201G>C (p.Arg67=) | |
17 | g.70175240G>T | CA501700337 | KCNJ2 | c.201G>T (p.Arg67=) | |
17 | g.70175241T>A | CA400860096 | KCNJ2 | c.202T>A (p.Tyr68Asn) | |
17 | g.70175241T>C | CA400860095 | KCNJ2 | c.202T>C (p.Tyr68His) | |
17 | g.70175241T>G | CA329639 | KCNJ2 | c.202T>G (p.Tyr68Asp) | ClinVar dbSNP |
17 | g.70175241T= | CA2272996483 | KCNJ2 | c.202T= (p.Tyr68=) | |
17 | g.70175242A>C | CA400860097 | KCNJ2 | c.203A>C (p.Tyr68Ser) | |
17 | g.70175242A>G | CA400860098 | KCNJ2 | c.203A>G (p.Tyr68Cys) | ClinVar dbSNP COSMIC |
17 | g.70175242A>T | CA400860099 | KCNJ2 | c.203A>T (p.Tyr68Phe) | |
17 | g.70175243C>A | CA400860100 | KCNJ2 | c.204C>A (p.Tyr68Ter) | COSMIC |
17 | g.70175243C>G | CA400860101 | KCNJ2 | c.204C>G (p.Tyr68Ter) | |
17 | g.70175243C>T | CA501700338 | KCNJ2 | c.204C>T (p.Tyr68=) | gnomAD v4 |
17 | g.70175244C>A | CA400860102 | KCNJ2 | c.205C>A (p.Leu69Ile) | |
17 | g.70175244C>G | CA400860103 | KCNJ2 | c.205C>G (p.Leu69Val) | |
17 | g.70175244C>T | CA400860104 | KCNJ2 | c.205C>T (p.Leu69Phe) | ClinVar |
17 | g.70175245T>A | CA400860105 | KCNJ2 | c.206T>A (p.Leu69His) | |
17 | g.70175245T>C | CA400860106 | KCNJ2 | c.206T>C (p.Leu69Pro) | |
17 | g.70175245T>G | CA400860107 | KCNJ2 | c.206T>G (p.Leu69Arg) | |
17 | g.70175246C>A | CA501700339 | KCNJ2 | c.207C>A (p.Leu69=) | |
17 | g.70175246C= | CA2272996484 | KCNJ2 | c.207C= (p.Leu69=) | |
17 | g.70175246C>G | CA293702905 | KCNJ2 | c.207C>G (p.Leu69=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175246C>T | CA501700340 | KCNJ2 | c.207C>T (p.Leu69=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175247G>A | CA302020 | KCNJ2 | c.208G>A (p.Ala70Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175247G>C | CA400860108 | KCNJ2 | c.208G>C (p.Ala70Pro) | dbSNP |
17 | g.70175247G= | CA2272996485 | KCNJ2 | c.208G= (p.Ala70=) | |
17 | g.70175247G>T | CA8738699 | KCNJ2 | c.208G>T (p.Ala70Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175248C>A | CA400860109 | KCNJ2 | c.209C>A (p.Ala70Glu) | |
17 | g.70175248C>G | CA400860110 | KCNJ2 | c.209C>G (p.Ala70Gly) | |
17 | g.70175248C>T | CA400860111 | KCNJ2 | c.209C>T (p.Ala70Val) | |
17 | g.70175249A>C | CA501700342 | KCNJ2 | c.210A>C (p.Ala70=) | |
17 | g.70175249A>G | CA501700344 | KCNJ2 | c.210A>G (p.Ala70=) | |
17 | g.70175249A>T | CA501700346 | KCNJ2 | c.210A>T (p.Ala70=) | |
17 | g.70175250G>A | CA329642 | KCNJ2 | c.211G>A (p.Asp71Asn) | ClinVar dbSNP |
17 | g.70175250G>C | CA085820 | KCNJ2 | c.211G>C (p.Asp71His) | ClinVar dbSNP |
17 | g.70175250G= | CA2272996486 | KCNJ2 | c.211G= (p.Asp71=) | |
17 | g.70175250G>T | CA400860112 | KCNJ2 | c.211G>T (p.Asp71Tyr) | |
17 | g.70175251A= | CA2272996487 | KCNJ2 | c.212A= (p.Asp71=) | |
17 | g.70175251A>C | CA400860113 | KCNJ2 | c.212A>C (p.Asp71Ala) | |
17 | g.70175251A>G | CA400860114 | KCNJ2 | c.212A>G (p.Asp71Gly) | |
17 | g.70175251A>T | CA254592 | KCNJ2 | c.212A>T (p.Asp71Val) | ClinVar dbSNP |
17 | g.70175252C>A | CA400860115 | KCNJ2 | c.213C>A (p.Asp71Glu) | |
17 | g.70175252C= | CA2272996488 | KCNJ2 | c.213C= (p.Asp71=) | |
17 | g.70175252C>G | CA400860116 | KCNJ2 | c.213C>G (p.Asp71Glu) | |
17 | g.70175252C>T | CA8738700 | KCNJ2 | c.213C>T (p.Asp71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175253A= | CA2272996489 | KCNJ2 | c.214A= (p.Ile72=) | |
17 | g.70175253A>C | CA400860119 | KCNJ2 | c.214A>C (p.Ile72Leu) | |
17 | g.70175253A>G | CA400860117 | KCNJ2 | c.214A>G (p.Ile72Val) | ClinVar |
17 | g.70175253A>T | CA400860118 | KCNJ2 | c.214A>T (p.Ile72Phe) | dbSNP |
17 | g.70175254T>A | CA400860120 | KCNJ2 | c.215T>A (p.Ile72Asn) | |
17 | g.70175254T>C | CA400860121 | KCNJ2 | c.215T>C (p.Ile72Thr) | |
17 | g.70175254T>G | CA400860122 | KCNJ2 | c.215T>G (p.Ile72Ser) | |
17 | g.70175255C>A | CA501700352 | KCNJ2 | c.216C>A (p.Ile72=) | |
17 | g.70175255C= | CA2272996490 | KCNJ2 | c.216C= (p.Ile72=) | |
17 | g.70175255C>G | CA8738701 | KCNJ2 | c.216C>G (p.Ile72Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175255C>T | CA501700356 | KCNJ2 | c.216C>T (p.Ile72=) | COSMIC |
17 | g.70175256T>A | CA400860123 | KCNJ2 | c.217T>A (p.Phe73Ile) | |
17 | g.70175256T>C | CA400860124 | KCNJ2 | c.217T>C (p.Phe73Leu) | |
17 | g.70175256T>G | CA400860125 | KCNJ2 | c.217T>G (p.Phe73Val) | |
17 | g.70175257T>A | CA400860126 | KCNJ2 | c.218T>A (p.Phe73Tyr) | |
17 | g.70175257T>C | CA400860127 | KCNJ2 | c.218T>C (p.Phe73Ser) | |
17 | g.70175257T>G | CA400860128 | KCNJ2 | c.218T>G (p.Phe73Cys) | |
17 | g.70175258C>A | CA400860129 | KCNJ2 | c.219C>A (p.Phe73Leu) | COSMIC |
17 | g.70175258C= | CA2272996491 | KCNJ2 | c.219C= (p.Phe73=) | |
17 | g.70175258C>G | CA400860130 | KCNJ2 | c.219C>G (p.Phe73Leu) | |
17 | g.70175258C>T | CA501700360 | KCNJ2 | c.219C>T (p.Phe73=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175261_70175263dup | CA913184886 | KCNJ2 | c.222_224dup (p.Thr75_Cys76insThr) | |
17 | g.70175259A= | CA2272996492 | KCNJ2 | c.220A= (p.Thr74=) | |
17 | g.70175259A>C | CA400860132 | KCNJ2 | c.220A>C (p.Thr74Pro) | |
17 | g.70175259A>G | CA329645 | KCNJ2 | c.220A>G (p.Thr74Ala) | ClinVar dbSNP gnomAD v4 |
17 | g.70175259A>T | CA400860131 | KCNJ2 | c.220A>T (p.Thr74Ser) | |
17 | g.70175260C>A | CA400860134 | KCNJ2 | c.221C>A (p.Thr74Asn) | |
17 | g.70175260C>G | CA400860133 | KCNJ2 | c.221C>G (p.Thr74Ser) | |
17 | g.70175260C>T | CA400860135 | KCNJ2 | c.221C>T (p.Thr74Ile) | gnomAD v4 |
17 | g.70175261C>A | CA501700366 | KCNJ2 | c.222C>A (p.Thr74=) | |
17 | g.70175261C= | CA2272996493 | KCNJ2 | c.222C= (p.Thr74=) | |
17 | g.70175261C>G | CA501700367 | KCNJ2 | c.222C>G (p.Thr74=) | |
17 | g.70175261C>T | CA293702906 | KCNJ2 | c.222C>T (p.Thr74=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175262A= | CA2272996494 | KCNJ2 | c.223A= (p.Thr75=) | |
17 | g.70175262A>C | CA400860136 | KCNJ2 | c.223A>C (p.Thr75Pro) | |
17 | g.70175262A>G | CA329648 | KCNJ2 | c.223A>G (p.Thr75Ala) | ClinVar dbSNP |
17 | g.70175262A>T | CA400860137 | KCNJ2 | c.223A>T (p.Thr75Ser) | |
17 | g.70175263C>A | CA400860138 | KCNJ2 | c.224C>A (p.Thr75Lys) | ClinVar COSMIC |
17 | g.70175263C= | CA2272996495 | KCNJ2 | c.224C= (p.Thr75=) | |
17 | g.70175263C>G | CA254602 | KCNJ2 | c.224C>G (p.Thr75Arg) | ClinVar dbSNP |
17 | g.70175263C>T | CA302067 | KCNJ2 | c.224C>T (p.Thr75Met) | ClinVar dbSNP COSMIC |
17 | g.70175264G>A | CA8738702 | KCNJ2 | c.225G>A (p.Thr75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175264G>C | CA501700370 | KCNJ2 | c.225G>C (p.Thr75=) | |
17 | g.70175264G= | CA2272996496 | KCNJ2 | c.225G= (p.Thr75=) | |
17 | g.70175264G>T | CA8738703 | KCNJ2 | c.225G>T (p.Thr75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175265T>A | CA400860139 | KCNJ2 | c.226T>A (p.Cys76Ser) | |
17 | g.70175265T>C | CA400860140 | KCNJ2 | c.226T>C (p.Cys76Arg) | ClinVar |
17 | g.70175265T>G | CA302023 | KCNJ2 | c.226T>G (p.Cys76Gly) | ClinVar dbSNP |
17 | g.70175265T= | CA2272996497 | KCNJ2 | c.226T= (p.Cys76=) | |
17 | g.70175266G>A | CA400860143 | KCNJ2 | c.227G>A (p.Cys76Tyr) | |
17 | g.70175266G>C | CA400860142 | KCNJ2 | c.227G>C (p.Cys76Ser) | COSMIC |
17 | g.70175266G>T | CA400860141 | KCNJ2 | c.227G>T (p.Cys76Phe) | |
17 | g.70175267T>A | CA400860144 | KCNJ2 | c.228T>A (p.Cys76Ter) | |
17 | g.70175267T>C | CA501700374 | KCNJ2 | c.228T>C (p.Cys76=) | |
17 | g.70175267T>G | CA400860145 | KCNJ2 | c.228T>G (p.Cys76Trp) | |
17 | g.70175268G>A | CA400860146 | KCNJ2 | c.229G>A (p.Val77Met) | |
17 | g.70175268G>C | CA400860147 | KCNJ2 | c.229G>C (p.Val77Leu) | |
17 | g.70175268G>T | CA400860148 | KCNJ2 | c.229G>T (p.Val77Leu) | |
17 | g.70175269T>A | CA400860149 | KCNJ2 | c.230T>A (p.Val77Glu) | |
17 | g.70175269T>C | CA400860150 | KCNJ2 | c.230T>C (p.Val77Ala) | |
17 | g.70175269T>G | CA400860151 | KCNJ2 | c.230T>G (p.Val77Gly) |