Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
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) | |
17 | g.70175270G>A | CA8738704 | KCNJ2 | c.231G>A (p.Val77=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175270G>C | CA501700382 | KCNJ2 | c.231G>C (p.Val77=) | gnomAD v4 |
17 | g.70175270G= | CA2272996498 | KCNJ2 | c.231G= (p.Val77=) | |
17 | g.70175270G>T | CA501700381 | KCNJ2 | c.231G>T (p.Val77=) | |
17 | g.70175271G>A | CA400860152 | KCNJ2 | c.232G>A (p.Asp78Asn) | ClinVar |
17 | g.70175271G>C | CA400860153 | KCNJ2 | c.232G>C (p.Asp78His) | ClinVar dbSNP |
17 | g.70175271G= | CA2272996499 | KCNJ2 | c.232G= (p.Asp78=) | |
17 | g.70175271G>T | CA329651 | KCNJ2 | c.232G>T (p.Asp78Tyr) | ClinVar dbSNP |
17 | g.70175272A= | CA2272996500 | KCNJ2 | c.233A= (p.Asp78=) | |
17 | g.70175272A>C | CA400860155 | KCNJ2 | c.233A>C (p.Asp78Ala) | |
17 | g.70175272A>G | CA329654 | KCNJ2 | c.233A>G (p.Asp78Gly) | ClinVar dbSNP |
17 | g.70175272A>T | CA400860154 | KCNJ2 | c.233A>T (p.Asp78Val) | gnomAD v4 |
17 | g.70175273C>A | CA400860156 | KCNJ2 | c.234C>A (p.Asp78Glu) | |
17 | g.70175273C= | CA2272996501 | KCNJ2 | c.234C= (p.Asp78=) | |
17 | g.70175273C>G | CA400860157 | KCNJ2 | c.234C>G (p.Asp78Glu) | |
17 | g.70175273C>T | CA501700391 | KCNJ2 | c.234C>T (p.Asp78=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175274A>C | CA400860158 | KCNJ2 | c.235A>C (p.Ile79Leu) | |
17 | g.70175274A>G | CA400860159 | KCNJ2 | c.235A>G (p.Ile79Val) | ClinVar |
17 | g.70175274A>T | CA400860160 | KCNJ2 | c.235A>T (p.Ile79Phe) | |
17 | g.70175275T>A | CA400860161 | KCNJ2 | c.236T>A (p.Ile79Asn) | |
17 | g.70175275T>C | CA302026 | KCNJ2 | c.236T>C (p.Ile79Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175275T>G | CA400860162 | KCNJ2 | c.236T>G (p.Ile79Ser) | |
17 | g.70175275T= | CA2272996502 | KCNJ2 | c.236T= (p.Ile79=) | |
17 | g.70175276T>A | CA501700395 | KCNJ2 | c.237T>A (p.Ile79=) | |
17 | g.70175276T>C | CA501700396 | KCNJ2 | c.237T>C (p.Ile79=) | |
17 | g.70175276T>G | CA400860163 | KCNJ2 | c.237T>G (p.Ile79Met) | |
17 | g.70175277C>A | CA400860164 | KCNJ2 | c.238C>A (p.Arg80Ser) | gnomAD v4 |
17 | g.70175277C= | CA2272996503 | KCNJ2 | c.238C= (p.Arg80=) | |
17 | g.70175277C>G | CA400860165 | KCNJ2 | c.238C>G (p.Arg80Gly) | |
17 | g.70175277C>T | CA400860166 | KCNJ2 | c.238C>T (p.Arg80Cys) | ClinVar dbSNP |
17 | g.70175278G>A | CA400860168 | KCNJ2 | c.239G>A (p.Arg80His) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.70175278G>C | CA400860169 | KCNJ2 | c.239G>C (p.Arg80Pro) | |
17 | g.70175278G>T | CA400860167 | KCNJ2 | c.239G>T (p.Arg80Leu) | |
17 | g.70175279C>A | CA501700402 | KCNJ2 | c.240C>A (p.Arg80=) | gnomAD v4 |
17 | g.70175279C>G | CA501700403 | KCNJ2 | c.240C>G (p.Arg80=) | gnomAD v4 |
17 | g.70175279C>T | CA501700404 | KCNJ2 | c.240C>T (p.Arg80=) | |
17 | g.70175280T>A | CA400860170 | KCNJ2 | c.241T>A (p.Trp81Arg) | |
17 | g.70175280T>C | CA400860171 | KCNJ2 | c.241T>C (p.Trp81Arg) | |
17 | g.70175280T>G | CA400860172 | KCNJ2 | c.241T>G (p.Trp81Gly) | |
17 | g.70175281G>A | CA400860173 | KCNJ2 | c.242G>A (p.Trp81Ter) | |
17 | g.70175281G>C | CA400860174 | KCNJ2 | c.242G>C (p.Trp81Ser) | COSMIC |
17 | g.70175281G>T | CA400860175 | KCNJ2 | c.242G>T (p.Trp81Leu) | |
17 | g.70175282G>A | CA400860178 | KCNJ2 | c.243G>A (p.Trp81Ter) | |
17 | g.70175282G>C | CA400860176 | KCNJ2 | c.243G>C (p.Trp81Cys) | |
17 | g.70175282G>T | CA400860177 | KCNJ2 | c.243G>T (p.Trp81Cys) | |
17 | g.70175283C>A | CA501700409 | KCNJ2 | c.244C>A (p.Arg82=) | ClinVar |
17 | g.70175283C= | CA2272996504 | KCNJ2 | c.244C= (p.Arg82=) | |
17 | g.70175283C>G | CA400860179 | KCNJ2 | c.244C>G (p.Arg82Gly) | |
17 | g.70175283C>T | CA145013 | KCNJ2 | c.244C>T (p.Arg82Trp) | ClinVar dbSNP gnomAD v4 |
17 | g.70175284G>A | CA329657 | KCNJ2 | c.245G>A (p.Arg82Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175284G>C | CA400860180 | KCNJ2 | c.245G>C (p.Arg82Pro) | |
17 | g.70175284G= | CA2272996505 | KCNJ2 | c.245G= (p.Arg82=) | |
17 | g.70175284G>T | CA400860181 | KCNJ2 | c.245G>T (p.Arg82Leu) | |
17 | g.70175285G>A | CA501700412 | KCNJ2 | c.246G>A (p.Arg82=) | ClinVar |
17 | g.70175285G>C | CA501700413 | KCNJ2 | c.246G>C (p.Arg82=) | |
17 | g.70175285G>T | CA501700416 | KCNJ2 | c.246G>T (p.Arg82=) | gnomAD v4 |
17 | g.70175286T>A | CA400860184 | KCNJ2 | c.247T>A (p.Trp83Arg) | |
17 | g.70175286T>C | CA400860183 | KCNJ2 | c.247T>C (p.Trp83Arg) | |
17 | g.70175286T>G | CA400860182 | KCNJ2 | c.247T>G (p.Trp83Gly) | |
17 | g.70175287G>A | CA400860185 | KCNJ2 | c.248G>A (p.Trp83Ter) | |
17 | g.70175287G>C | CA400860187 | KCNJ2 | c.248G>C (p.Trp83Ser) | |
17 | g.70175287G>T | CA400860186 | KCNJ2 | c.248G>T (p.Trp83Leu) | |
17 | g.70175288G>A | CA400860188 | KCNJ2 | c.249G>A (p.Trp83Ter) | |
17 | g.70175288G>C | CA400860189 | KCNJ2 | c.249G>C (p.Trp83Cys) | |
17 | g.70175288G>T | CA400860190 | KCNJ2 | c.249G>T (p.Trp83Cys) | |
17 | g.70175289A>C | CA400860191 | KCNJ2 | c.250A>C (p.Met84Leu) | |
17 | g.70175289A>G | CA400860192 | KCNJ2 | c.250A>G (p.Met84Val) | |
17 | g.70175289A>T | CA400860193 | KCNJ2 | c.250A>T (p.Met84Leu) | |
17 | g.70175290T>A | CA400860194 | KCNJ2 | c.251T>A (p.Met84Lys) | |
17 | g.70175290T>C | CA400860195 | KCNJ2 | c.251T>C (p.Met84Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175290T>G | CA400860196 | KCNJ2 | c.251T>G (p.Met84Arg) | |
17 | g.70175290T= | CA2272996506 | KCNJ2 | c.251T= (p.Met84=) | |
17 | g.70175291G>A | CA400860197 | KCNJ2 | c.252G>A (p.Met84Ile) | ClinVar |
17 | g.70175291G>C | CA400860198 | KCNJ2 | c.252G>C (p.Met84Ile) | |
17 | g.70175291G>T | CA400860199 | KCNJ2 | c.252G>T (p.Met84Ile) | |
17 | g.70175292C>A | CA400860200 | KCNJ2 | c.253C>A (p.Leu85Met) | |
17 | g.70175292C= | CA2272996507 | KCNJ2 | c.253C= (p.Leu85=) | |
17 | g.70175292C>G | CA293702907 | KCNJ2 | c.253C>G (p.Leu85Val) | dbSNP |
17 | g.70175292C>T | CA501700431 | KCNJ2 | c.253C>T (p.Leu85=) | |
17 | g.70175293T>A | CA400860201 | KCNJ2 | c.254T>A (p.Leu85Gln) | |
17 | g.70175293T>C | CA400860202 | KCNJ2 | c.254T>C (p.Leu85Pro) | |
17 | g.70175293T>G | CA400860203 | KCNJ2 | c.254T>G (p.Leu85Arg) | |
17 | g.70175294G>A | CA501700435 | KCNJ2 | c.255G>A (p.Leu85=) | |
17 | g.70175294G>C | CA501700436 | KCNJ2 | c.255G>C (p.Leu85=) | |
17 | g.70175294G>T | CA501700437 | KCNJ2 | c.255G>T (p.Leu85=) | |
17 | g.70175295G>A | CA400860204 | KCNJ2 | c.256G>A (p.Val86Ile) | ClinVar COSMIC |
17 | g.70175295G>C | CA400860205 | KCNJ2 | c.256G>C (p.Val86Leu) | |
17 | g.70175295G= | CA2272996508 | KCNJ2 | c.256G= (p.Val86=) | |
17 | g.70175295G>T | CA302029 | KCNJ2 | c.256G>T (p.Val86Phe) | ClinVar dbSNP |
17 | g.70175296T>A | CA400860206 | KCNJ2 | c.257T>A (p.Val86Asp) | |
17 | g.70175296T>C | CA400860207 | KCNJ2 | c.257T>C (p.Val86Ala) | |
17 | g.70175296T>G | CA400860208 | KCNJ2 | c.257T>G (p.Val86Gly) | |
17 | g.70175297T>A | CA501700444 | KCNJ2 | c.258T>A (p.Val86=) | |
17 | g.70175297T>C | CA501700445 | KCNJ2 | c.258T>C (p.Val86=) | |
17 | g.70175297T>G | CA501700446 | KCNJ2 | c.258T>G (p.Val86=) | |
17 | g.70175298A= | CA2272996509 | KCNJ2 | c.259A= (p.Ile87=) | |
17 | g.70175298A>C | CA400860209 | KCNJ2 | c.259A>C (p.Ile87Leu) | |
17 | g.70175298A>G | CA8738705 | KCNJ2 | c.259A>G (p.Ile87Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175298A>T | CA400860210 | KCNJ2 | c.259A>T (p.Ile87Phe) | |
17 | g.70175299T>A | CA400860213 | KCNJ2 | c.260T>A (p.Ile87Asn) | |
17 | g.70175299T>C | CA400860212 | KCNJ2 | c.260T>C (p.Ile87Thr) | |
17 | g.70175299T>G | CA400860211 | KCNJ2 | c.260T>G (p.Ile87Ser) | |
17 | g.70175300C>A | CA501700451 | KCNJ2 | c.261C>A (p.Ile87=) | |
17 | g.70175300C= | CA2272996510 | KCNJ2 | c.261C= (p.Ile87=) | |
17 | g.70175300C>G | CA400860214 | KCNJ2 | c.261C>G (p.Ile87Met) | ClinVar |
17 | g.70175300C>T | CA501700455 | KCNJ2 | c.261C>T (p.Ile87=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175301T>A | CA400860215 | KCNJ2 | c.262T>A (p.Phe88Ile) | |
17 | g.70175301T>C | CA400860216 | KCNJ2 | c.262T>C (p.Phe88Leu) | |
17 | g.70175301T>G | CA400860217 | KCNJ2 | c.262T>G (p.Phe88Val) | |
17 | g.70175302T>A | CA400860218 | KCNJ2 | c.263T>A (p.Phe88Tyr) | |
17 | g.70175302T>C | CA400860219 | KCNJ2 | c.263T>C (p.Phe88Ser) | |
17 | g.70175302T>G | CA400860220 | KCNJ2 | c.263T>G (p.Phe88Cys) | |
17 | g.70175303C>A | CA400860221 | KCNJ2 | c.264C>A (p.Phe88Leu) | |
17 | g.70175303C>G | CA400860222 | KCNJ2 | c.264C>G (p.Phe88Leu) | |
17 | g.70175303C>T | CA501700462 | KCNJ2 | c.264C>T (p.Phe88=) | |
17 | g.70175304T>A | CA400860223 | KCNJ2 | c.265T>A (p.Cys89Ser) | |
17 | g.70175304T>C | CA400860224 | KCNJ2 | c.265T>C (p.Cys89Arg) | ClinVar |
17 | g.70175304T>G | CA400860225 | KCNJ2 | c.265T>G (p.Cys89Gly) | |
17 | g.70175305G>A | CA400860227 | KCNJ2 | c.266G>A (p.Cys89Tyr) | |
17 | g.70175305G>C | CA400860228 | KCNJ2 | c.266G>C (p.Cys89Ser) | |
17 | g.70175305G>T | CA400860226 | KCNJ2 | c.266G>T (p.Cys89Phe) | |
17 | g.70175305_70175317delinsGCCTGGCTTTCGT | CA2272996511 | KCNJ2 | c.266_278delinsGCCTGGCTTTCGT (p.Cys89=) | |
17 | g.70175306C>A | CA400860229 | KCNJ2 | c.267C>A (p.Cys89Ter) | |
17 | g.70175306C= | CA2272996512 | KCNJ2 | c.267C= (p.Cys89=) | |
17 | g.70175306C>G | CA400860230 | KCNJ2 | c.267C>G (p.Cys89Trp) | |
17 | g.70175306C>T | CA501700469 | KCNJ2 | c.267C>T (p.Cys89=) | ClinVar dbSNP gnomAD v4 |
17 | g.70175310_70175321del | CA347345 | KCNJ2 | c.271_282del (p.Ala91_Leu94del) | ClinVar dbSNP |
17 | g.70175307C>A | CA400860231 | KCNJ2 | c.268C>A (p.Leu90Met) | |
17 | g.70175307C>G | CA400860232 | KCNJ2 | c.268C>G (p.Leu90Val) | |
17 | g.70175307C>T | CA501700472 | KCNJ2 | c.268C>T (p.Leu90=) | |
17 | g.70175308T>A | CA400860235 | KCNJ2 | c.269T>A (p.Leu90Gln) | |
17 | g.70175308T>C | CA400860234 | KCNJ2 | c.269T>C (p.Leu90Pro) | |
17 | g.70175308T>G | CA400860233 | KCNJ2 | c.269T>G (p.Leu90Arg) | ClinVar |
17 | g.70175309G>A | CA501700476 | KCNJ2 | c.270G>A (p.Leu90=) | |
17 | g.70175309G>C | CA501700477 | KCNJ2 | c.270G>C (p.Leu90=) | |
17 | g.70175309G>T | CA501700479 | KCNJ2 | c.270G>T (p.Leu90=) | |
17 | g.70175310G>A | CA400860236 | KCNJ2 | c.271G>A (p.Ala91Thr) | ClinVar dbSNP |
17 | g.70175310G>C | CA400860237 | KCNJ2 | c.271G>C (p.Ala91Pro) | |
17 | g.70175310G>T | CA400860238 | KCNJ2 | c.271G>T (p.Ala91Ser) | COSMIC |