Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128916620_128916639delinsCCCACTGCTGGGGGGCTGTG | CA2008294871 | KCNJ5 | c.1149_1168delinsCCCACTGCTGGGGGGCTGTG (p.Pro383=) | |
11 | g.128916622_128916640del | CA2008294874 | KCNJ5 | c.1151_1169del (p.Pro384LeufsTer?) | dbSNP |
11 | g.128916624_128916625del | CA2575025436 | KCNJ5 | c.1153_1154del (p.Leu385AlafsTer6) | gnomAD v4 |
11 | g.128916625T>A | CA383236029 | KCNJ5 | c.1154T>A (p.Leu385Gln) | |
11 | g.128916625T>C | CA383236030 | KCNJ5 | c.1154T>C (p.Leu385Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916625T>G | CA6358007 | KCNJ5 | c.1154T>G (p.Leu385Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128916625T= | CA2008294877 | KCNJ5 | c.1154T= (p.Leu385=) | |
11 | g.128916626G>A | CA477704183 | KCNJ5 | c.1155G>A (p.Leu385=) | |
11 | g.128916626G>C | CA477704184 | KCNJ5 | c.1155G>C (p.Leu385=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916626G= | CA2008294878 | KCNJ5 | c.1155G= (p.Leu385=) | |
11 | g.128916626G>T | CA477704185 | KCNJ5 | c.1155G>T (p.Leu385=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128916627C>A | CA383236031 | KCNJ5 | c.1156C>A (p.Leu386Met) | gnomAD v4 |
11 | g.128916627C>G | CA383236032 | KCNJ5 | c.1156C>G (p.Leu386Val) | |
11 | g.128916627C>T | CA477704186 | KCNJ5 | c.1156C>T (p.Leu386=) | |
11 | g.128916627_128916628insAG | CA2575025437 | KCNJ5 | c.1156_1157insAG (p.Leu386GlnfsTer?) | gnomAD v4 |
11 | g.128916628T>A | CA383236033 | KCNJ5 | c.1157T>A (p.Leu386Gln) | |
11 | g.128916628T>C | CA383236035 | KCNJ5 | c.1157T>C (p.Leu386Pro) | |
11 | g.128916628T>G | CA383236034 | KCNJ5 | c.1157T>G (p.Leu386Arg) | |
11 | g.128916628T= | CA2008294879 | KCNJ5 | c.1157T= (p.Leu386=) | |
11 | g.128916629G>A | CA477704187 | KCNJ5 | c.1158G>A (p.Leu386=) | |
11 | g.128916629G>C | CA6358008 | KCNJ5 | c.1158G>C (p.Leu386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916629G= | CA2008294880 | KCNJ5 | c.1158G= (p.Leu386=) | |
11 | g.128916629G>T | CA477704188 | KCNJ5 | c.1158G>T (p.Leu386=) | |
11 | g.128916634dup | CA943430883 | KCNJ5 | c.1163dup (p.Cys389LeufsTer3) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128916630G>A | CA383236036 | KCNJ5 | c.1159G>A (p.Gly387Arg) | |
11 | g.128916630G>C | CA254574 | KCNJ5 | c.1159G>C (p.Gly387Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916630G= | CA2008294881 | KCNJ5 | c.1159G= (p.Gly387=) | |
11 | g.128916630G>T | CA383236037 | KCNJ5 | c.1159G>T (p.Gly387Trp) | |
11 | g.128916631G>A | CA6358009 | KCNJ5 | c.1160G>A (p.Gly387Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128916631G>C | CA383236038 | KCNJ5 | c.1160G>C (p.Gly387Ala) | |
11 | g.128916631G= | CA2008294882 | KCNJ5 | c.1160G= (p.Gly387=) | |
11 | g.128916631G>T | CA383236039 | KCNJ5 | c.1160G>T (p.Gly387Val) | |
11 | g.128916632G>A | CA477704189 | KCNJ5 | c.1161G>A (p.Gly387=) | gnomAD v4 COSMIC |
11 | g.128916632G>C | CA477704190 | KCNJ5 | c.1161G>C (p.Gly387=) | ClinVar dbSNP |
11 | g.128916632G>T | CA477704191 | KCNJ5 | c.1161G>T (p.Gly387=) | COSMIC |
11 | g.128916633G>A | CA383236041 | KCNJ5 | c.1162G>A (p.Gly388Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128916633G>C | CA383236043 | KCNJ5 | c.1162G>C (p.Gly388Arg) | |
11 | g.128916633G= | CA2008294883 | KCNJ5 | c.1162G= (p.Gly388=) | |
11 | g.128916633G>T | CA6358010 | KCNJ5 | c.1162G>T (p.Gly388Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128916634G>A | CA6358011 | KCNJ5 | c.1163G>A (p.Gly388Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916634G>C | CA383236048 | KCNJ5 | c.1163G>C (p.Gly388Ala) | gnomAD v4 |
11 | g.128916634G= | CA2008294884 | KCNJ5 | c.1163G= (p.Gly388=) | |
11 | g.128916634G>T | CA383236049 | KCNJ5 | c.1163G>T (p.Gly388Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916638_128916642del | CA645570114 | KCNJ5 | c.1167_1171del (p.Cys389Ter) | COSMIC |
11 | g.128916635C>A | CA477704192 | KCNJ5 | c.1164C>A (p.Gly388=) | |
11 | g.128916635C>G | CA477704193 | KCNJ5 | c.1164C>G (p.Gly388=) | |
11 | g.128916635C>T | CA477704194 | KCNJ5 | c.1164C>T (p.Gly388=) | |
11 | g.128916636T>A | CA383236051 | KCNJ5 | c.1165T>A (p.Cys389Ser) | |
11 | g.128916636T>C | CA383236053 | KCNJ5 | c.1165T>C (p.Cys389Arg) | |
11 | g.128916636T>G | CA383236055 | KCNJ5 | c.1165T>G (p.Cys389Gly) | |
11 | g.128916637G>A | CA6358012 | KCNJ5 | c.1166G>A (p.Cys389Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916637G>C | CA383236058 | KCNJ5 | c.1166G>C (p.Cys389Ser) | |
11 | g.128916637G= | CA2008294885 | KCNJ5 | c.1166G= (p.Cys389=) | |
11 | g.128916637G>T | CA383236060 | KCNJ5 | c.1166G>T (p.Cys389Phe) | |
11 | g.128916638T>A | CA383236063 | KCNJ5 | c.1167T>A (p.Cys389Ter) | |
11 | g.128916638T>C | CA477704195 | KCNJ5 | c.1167T>C (p.Cys389=) | |
11 | g.128916638T>G | CA383236065 | KCNJ5 | c.1167T>G (p.Cys389Trp) | |
11 | g.128916639G>A | CA383236067 | KCNJ5 | c.1168G>A (p.Ala390Thr) | |
11 | g.128916639G>C | CA383236069 | KCNJ5 | c.1168G>C (p.Ala390Pro) | |
11 | g.128916639G>T | CA383236070 | KCNJ5 | c.1168G>T (p.Ala390Ser) | |
11 | g.128916640C>A | CA383236073 | KCNJ5 | c.1169C>A (p.Ala390Asp) | |
11 | g.128916640C= | CA2008294886 | KCNJ5 | c.1169C= (p.Ala390=) | |
11 | g.128916640C>G | CA383236074 | KCNJ5 | c.1169C>G (p.Ala390Gly) | |
11 | g.128916640C>T | CA6358013 | KCNJ5 | c.1169C>T (p.Ala390Val) | dbSNP ExAC gnomAD v2 |
11 | g.128916641T>A | CA477704198 | KCNJ5 | c.1170T>A (p.Ala390=) | |
11 | g.128916641T>C | CA477704196 | KCNJ5 | c.1170T>C (p.Ala390=) | |
11 | g.128916641T>G | CA477704197 | KCNJ5 | c.1170T>G (p.Ala390=) | |
11 | g.128916642G>A | CA383236077 | KCNJ5 | c.1171G>A (p.Glu391Lys) | |
11 | g.128916642G>C | CA383236079 | KCNJ5 | c.1171G>C (p.Glu391Gln) | |
11 | g.128916642G>T | CA383236082 | KCNJ5 | c.1171G>T (p.Glu391Ter) | |
11 | g.128916643A>C | CA383236087 | KCNJ5 | c.1172A>C (p.Glu391Ala) | gnomAD v4 |
11 | g.128916643A>G | CA383236086 | KCNJ5 | c.1172A>G (p.Glu391Gly) | |
11 | g.128916643A>T | CA383236085 | KCNJ5 | c.1172A>T (p.Glu391Val) | |
11 | g.128916644G>A | CA477704199 | KCNJ5 | c.1173G>A (p.Glu391=) | |
11 | g.128916644G>C | CA383236091 | KCNJ5 | c.1173G>C (p.Glu391Asp) | |
11 | g.128916644G>T | CA383236094 | KCNJ5 | c.1173G>T (p.Glu391Asp) | |
11 | g.128916645G>A | CA383236097 | KCNJ5 | c.1174G>A (p.Ala392Thr) | gnomAD v4 |
11 | g.128916645G>C | CA383236099 | KCNJ5 | c.1174G>C (p.Ala392Pro) | |
11 | g.128916645G>T | CA383236101 | KCNJ5 | c.1174G>T (p.Ala392Ser) | |
11 | g.128916646C>A | CA383236102 | KCNJ5 | c.1175C>A (p.Ala392Glu) | |
11 | g.128916646C= | CA2008294887 | KCNJ5 | c.1175C= (p.Ala392=) | |
11 | g.128916646C>G | CA383236103 | KCNJ5 | c.1175C>G (p.Ala392Gly) | |
11 | g.128916646C>T | CA383236104 | KCNJ5 | c.1175C>T (p.Ala392Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128916647A>C | CA477704202 | KCNJ5 | c.1176A>C (p.Ala392=) | gnomAD v4 |
11 | g.128916647A>G | CA477704200 | KCNJ5 | c.1176A>G (p.Ala392=) | |
11 | g.128916647A>T | CA477704201 | KCNJ5 | c.1176A>T (p.Ala392=) | |
11 | g.128916648G>A | CA383236105 | KCNJ5 | c.1177G>A (p.Gly393Arg) | |
11 | g.128916648G>C | CA383236106 | KCNJ5 | c.1177G>C (p.Gly393Arg) | gnomAD v4 COSMIC |
11 | g.128916648G>T | CA383236107 | KCNJ5 | c.1177G>T (p.Gly393Trp) | |
11 | g.128916649G>A | CA6358014 | KCNJ5 | c.1178G>A (p.Gly393Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916649G>C | CA383236109 | KCNJ5 | c.1178G>C (p.Gly393Ala) | |
11 | g.128916649G= | CA2008294888 | KCNJ5 | c.1178G= (p.Gly393=) | |
11 | g.128916649G>T | CA383236111 | KCNJ5 | c.1178G>T (p.Gly393Val) | |
11 | g.128916654_128916666dup | CA2616776069 | KCNJ5 | c.1183_1195dup (p.Glu399GlyfsTer5) | gnomAD v4 |
11 | g.128916650G>A | CA477704203 | KCNJ5 | c.1179G>A (p.Gly393=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916650G>C | CA477704205 | KCNJ5 | c.1179G>C (p.Gly393=) | |
11 | g.128916650G= | CA2008294889 | KCNJ5 | c.1179G= (p.Gly393=) | |
11 | g.128916650G>T | CA477704204 | KCNJ5 | c.1179G>T (p.Gly393=) | |
11 | g.128916651C>A | CA6358015 | KCNJ5 | c.1180C>A (p.Leu394Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128916651C= | CA2008294890 | KCNJ5 | c.1180C= (p.Leu394=) | |
11 | g.128916651C>G | CA383236112 | KCNJ5 | c.1180C>G (p.Leu394Val) | |
11 | g.128916651C>T | CA477704206 | KCNJ5 | c.1180C>T (p.Leu394=) | |
11 | g.128916652T>A | CA383236113 | KCNJ5 | c.1181T>A (p.Leu394Gln) | |
11 | g.128916652T>C | CA383236114 | KCNJ5 | c.1181T>C (p.Leu394Pro) | |
11 | g.128916652T>G | CA383236116 | KCNJ5 | c.1181T>G (p.Leu394Arg) | |
11 | g.128916653G>A | CA477704207 | KCNJ5 | c.1182G>A (p.Leu394=) | |
11 | g.128916653G>C | CA477704208 | KCNJ5 | c.1182G>C (p.Leu394=) | |
11 | g.128916653G>T | CA477704209 | KCNJ5 | c.1182G>T (p.Leu394=) | |
11 | g.128916654G>A | CA383236120 | KCNJ5 | c.1183G>A (p.Asp395Asn) | COSMIC |
11 | g.128916654G>C | CA383236122 | KCNJ5 | c.1183G>C (p.Asp395His) | |
11 | g.128916654G>T | CA383236123 | KCNJ5 | c.1183G>T (p.Asp395Tyr) | |
11 | g.128916655A= | CA2008294891 | KCNJ5 | c.1184A= (p.Asp395=) | |
11 | g.128916655A>C | CA6358016 | KCNJ5 | c.1184A>C (p.Asp395Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916655A>G | CA383236125 | KCNJ5 | c.1184A>G (p.Asp395Gly) | |
11 | g.128916655A>T | CA383236127 | KCNJ5 | c.1184A>T (p.Asp395Val) | |
11 | g.128916656T>A | CA383236129 | KCNJ5 | c.1185T>A (p.Asp395Glu) | |
11 | g.128916656T>C | CA477704210 | KCNJ5 | c.1185T>C (p.Asp395=) | |
11 | g.128916656T>G | CA6358017 | KCNJ5 | c.1185T>G (p.Asp395Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916656T= | CA2008294892 | KCNJ5 | c.1185T= (p.Asp395=) | |
11 | g.128916657G>A | CA6358018 | KCNJ5 | c.1186G>A (p.Ala396Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916657G>C | CA383236136 | KCNJ5 | c.1186G>C (p.Ala396Pro) | |
11 | g.128916657G= | CA2008294893 | KCNJ5 | c.1186G= (p.Ala396=) | |
11 | g.128916657G>T | CA383236134 | KCNJ5 | c.1186G>T (p.Ala396Ser) | dbSNP gnomAD v4 COSMIC |
11 | g.128916658C>A | CA383236137 | KCNJ5 | c.1187C>A (p.Ala396Glu) | |
11 | g.128916658C= | CA2008294894 | KCNJ5 | c.1187C= (p.Ala396=) | |
11 | g.128916658C>G | CA383236138 | KCNJ5 | c.1187C>G (p.Ala396Gly) | |
11 | g.128916658C>T | CA383236140 | KCNJ5 | c.1187C>T (p.Ala396Val) | dbSNP |
11 | g.128916659A>C | CA477704211 | KCNJ5 | c.1188A>C (p.Ala396=) | |
11 | g.128916659A>G | CA477704212 | KCNJ5 | c.1188A>G (p.Ala396=) | gnomAD v4 |
11 | g.128916659A>T | CA477704213 | KCNJ5 | c.1188A>T (p.Ala396=) | |
11 | g.128916660G>A | CA383236144 | KCNJ5 | c.1189G>A (p.Glu397Lys) | gnomAD v4 |
11 | g.128916660G>C | CA383236146 | KCNJ5 | c.1189G>C (p.Glu397Gln) | |
11 | g.128916660G>T | CA383236150 | KCNJ5 | c.1189G>T (p.Glu397Ter) | |
11 | g.128916661A= | CA2008294895 | KCNJ5 | c.1190A= (p.Glu397=) | |
11 | g.128916661A>C | CA383236155 | KCNJ5 | c.1190A>C (p.Glu397Ala) | |
11 | g.128916661A>G | CA6358019 | KCNJ5 | c.1190A>G (p.Glu397Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916661A>T | CA383236154 | KCNJ5 | c.1190A>T (p.Glu397Val) | |
11 | g.128916662G>A | CA477704214 | KCNJ5 | c.1191G>A (p.Glu397=) | COSMIC |
11 | g.128916662G>C | CA383236159 | KCNJ5 | c.1191G>C (p.Glu397Asp) | |
11 | g.128916662G>T | CA383236160 | KCNJ5 | c.1191G>T (p.Glu397Asp) | |
11 | g.128916663G>A | CA383236163 | KCNJ5 | c.1192G>A (p.Ala398Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916663G>C | CA383236165 | KCNJ5 | c.1192G>C (p.Ala398Pro) | |
11 | g.128916663G= | CA2008294896 | KCNJ5 | c.1192G= (p.Ala398=) | |
11 | g.128916663G>T | CA383236167 | KCNJ5 | c.1192G>T (p.Ala398Ser) | |
11 | g.128916664C>A | CA383236179 | KCNJ5 | c.1193C>A (p.Ala398Asp) | gnomAD v4 |
11 | g.128916664C>G | CA383236171 | KCNJ5 | c.1193C>G (p.Ala398Gly) | |
11 | g.128916664C>T | CA383236173 | KCNJ5 | c.1193C>T (p.Ala398Val) | |
11 | g.128916665T>A | CA477704215 | KCNJ5 | c.1194T>A (p.Ala398=) | |
11 | g.128916665T>C | CA6358020 | KCNJ5 | c.1194T>C (p.Ala398=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128916665T>G | CA477704216 | KCNJ5 | c.1194T>G (p.Ala398=) | |
11 | g.128916665T= | CA2008294897 | KCNJ5 | c.1194T= (p.Ala398=) | |
11 | g.128916666G>A | CA383236184 | KCNJ5 | c.1195G>A (p.Glu399Lys) | dbSNP gnomAD v4 |
11 | g.128916666G>C | CA383236185 | KCNJ5 | c.1195G>C (p.Glu399Gln) | |
11 | g.128916666G= | CA2008294898 | KCNJ5 | c.1195G= (p.Glu399=) | |
11 | g.128916666G>T | CA383236187 | KCNJ5 | c.1195G>T (p.Glu399Ter) | |
11 | g.128916667A>C | CA383236188 | KCNJ5 | c.1196A>C (p.Glu399Ala) | |
11 | g.128916667A>G | CA383236190 | KCNJ5 | c.1196A>G (p.Glu399Gly) | |
11 | g.128916667A>T | CA383236192 | KCNJ5 | c.1196A>T (p.Glu399Val) | |
11 | g.128916668G>A | CA6358021 | KCNJ5 | c.1197G>A (p.Glu399=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916668G>C | CA383236203 | KCNJ5 | c.1197G>C (p.Glu399Asp) | |
11 | g.128916668G= | CA2008294899 | KCNJ5 | c.1197G= (p.Glu399=) | |
11 | g.128916668G>T | CA383236204 | KCNJ5 | c.1197G>T (p.Glu399Asp) | |
11 | g.128916669C>A | CA383236207 | KCNJ5 | c.1198C>A (p.Gln400Lys) | ClinVar gnomAD v4 |
11 | g.128916669C= | CA2008294900 | KCNJ5 | c.1198C= (p.Gln400=) | |
11 | g.128916669C>G | CA383236209 | KCNJ5 | c.1198C>G (p.Gln400Glu) | |
11 | g.128916669C>T | CA383236211 | KCNJ5 | c.1198C>T (p.Gln400Ter) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916670A>C | CA383236214 | KCNJ5 | c.1199A>C (p.Gln400Pro) | |
11 | g.128916670A>G | CA383236219 | KCNJ5 | c.1199A>G (p.Gln400Arg) | |
11 | g.128916670A>T | CA383236216 | KCNJ5 | c.1199A>T (p.Gln400Leu) | |
11 | g.128916671G>A | CA477704217 | KCNJ5 | c.1200G>A (p.Gln400=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128916671G>C | CA383236221 | KCNJ5 | c.1200G>C (p.Gln400His) | |
11 | g.128916671G= | CA2008294901 | KCNJ5 | c.1200G= (p.Gln400=) | |
11 | g.128916671G>T | CA383236222 | KCNJ5 | c.1200G>T (p.Gln400His) | |
11 | g.128916672A>C | CA383236225 | KCNJ5 | c.1201A>C (p.Asn401His) | |
11 | g.128916672A>G | CA383236227 | KCNJ5 | c.1201A>G (p.Asn401Asp) | |
11 | g.128916672A>T | CA383236228 | KCNJ5 | c.1201A>T (p.Asn401Tyr) | |
11 | g.128916673A>C | CA383236231 | KCNJ5 | c.1202A>C (p.Asn401Thr) | |
11 | g.128916673A>G | CA383236233 | KCNJ5 | c.1202A>G (p.Asn401Ser) | |
11 | g.128916673A>T | CA383236235 | KCNJ5 | c.1202A>T (p.Asn401Ile) | |
11 | g.128916674T>A | CA383236238 | KCNJ5 | c.1203T>A (p.Asn401Lys) | |
11 | g.128916674T>C | CA477704218 | KCNJ5 | c.1203T>C (p.Asn401=) | gnomAD v4 |
11 | g.128916674T>G | CA6358022 | KCNJ5 | c.1203T>G (p.Asn401Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916674T= | CA2008294902 | KCNJ5 | c.1203T= (p.Asn401=) | |
11 | g.128916675G>A | CA383236242 | KCNJ5 | c.1204G>A (p.Glu402Lys) | COSMIC |
11 | g.128916675G>C | CA383236244 | KCNJ5 | c.1204G>C (p.Glu402Gln) | |
11 | g.128916675G>T | CA383236246 | KCNJ5 | c.1204G>T (p.Glu402Ter) | |
11 | g.128916680_128916682del | CA2580615107 | KCNJ5 | c.1209_1211del (p.Glu403del) | ClinVar gnomAD v4 |
11 | g.128916676A>C | CA383236249 | KCNJ5 | c.1205A>C (p.Glu402Ala) | |
11 | g.128916676A>G | CA383236253 | KCNJ5 | c.1205A>G (p.Glu402Gly) | |
11 | g.128916676A>T | CA383236251 | KCNJ5 | c.1205A>T (p.Glu402Val) | |
11 | g.128916677dup | CA2838819387 | KCNJ5 | c.1206dup (p.Glu403ArgfsTer3) | |
11 | g.128916677A>C | CA383236256 | KCNJ5 | c.1206A>C (p.Glu402Asp) | |
11 | g.128916677A>G | CA477704219 | KCNJ5 | c.1206A>G (p.Glu402=) | |
11 | g.128916677A>T | CA383236258 | KCNJ5 | c.1206A>T (p.Glu402Asp) | |
11 | g.128916678G>A | CA383236261 | KCNJ5 | c.1207G>A (p.Glu403Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916678G>C | CA383236263 | KCNJ5 | c.1207G>C (p.Glu403Gln) | |
11 | g.128916678G= | CA2008294903 | KCNJ5 | c.1207G= (p.Glu403=) | |
11 | g.128916678G>T | CA383236266 | KCNJ5 | c.1207G>T (p.Glu403Ter) | |
11 | g.128916679A>C | CA383236269 | KCNJ5 | c.1208A>C (p.Glu403Ala) | |
11 | g.128916679A>G | CA383236271 | KCNJ5 | c.1208A>G (p.Glu403Gly) | gnomAD v4 |
11 | g.128916679A>T | CA383236273 | KCNJ5 | c.1208A>T (p.Glu403Val) | |
11 | g.128916680A>C | CA383236276 | KCNJ5 | c.1209A>C (p.Glu403Asp) | |
11 | g.128916680A>G | CA477704220 | KCNJ5 | c.1209A>G (p.Glu403=) | |
11 | g.128916680A>T | CA383236277 | KCNJ5 | c.1209A>T (p.Glu403Asp) | |
11 | g.128916681G>A | CA383236281 | KCNJ5 | c.1210G>A (p.Asp404Asn) | gnomAD v4 |
11 | g.128916681G>C | CA383236284 | KCNJ5 | c.1210G>C (p.Asp404His) | ClinVar dbSNP gnomAD v4 |
11 | g.128916681G= | CA2008294904 | KCNJ5 | c.1210G= (p.Asp404=) | |
11 | g.128916681G>T | CA383236282 | KCNJ5 | c.1210G>T (p.Asp404Tyr) | |
11 | g.128916682A>C | CA383236287 | KCNJ5 | c.1211A>C (p.Asp404Ala) | |
11 | g.128916682A>G | CA383236291 | KCNJ5 | c.1211A>G (p.Asp404Gly) | |
11 | g.128916682A>T | CA383236289 | KCNJ5 | c.1211A>T (p.Asp404Val) | |
11 | g.128916683T>A | CA383236293 | KCNJ5 | c.1212T>A (p.Asp404Glu) | |
11 | g.128916683T>C | CA477704221 | KCNJ5 | c.1212T>C (p.Asp404=) | |
11 | g.128916683T>G | CA383236295 | KCNJ5 | c.1212T>G (p.Asp404Glu) | |
11 | g.128916684G>A | CA383236298 | KCNJ5 | c.1213G>A (p.Glu405Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916684G>C | CA383236302 | KCNJ5 | c.1213G>C (p.Glu405Gln) | |
11 | g.128916684G= | CA2008294905 | KCNJ5 | c.1213G= (p.Glu405=) | |
11 | g.128916684G>T | CA383236300 | KCNJ5 | c.1213G>T (p.Glu405Ter) | |
11 | g.128916684dup | CA2841966395 | KCNJ5 | c.1213dup (p.Glu405GlyfsTer?) | |
11 | g.128916685A>C | CA383236305 | KCNJ5 | c.1214A>C (p.Glu405Ala) | |
11 | g.128916685A>G | CA383236309 | KCNJ5 | c.1214A>G (p.Glu405Gly) | |
11 | g.128916685A>T | CA383236307 | KCNJ5 | c.1214A>T (p.Glu405Val) | |
11 | g.128916686G>A | CA477704222 | KCNJ5 | c.1215G>A (p.Glu405=) | |
11 | g.128916686G>C | CA383236311 | KCNJ5 | c.1215G>C (p.Glu405Asp) | |
11 | g.128916686G>T | CA383236313 | KCNJ5 | c.1215G>T (p.Glu405Asp) | |
11 | g.128916687C>A | CA383236317 | KCNJ5 | c.1216C>A (p.Pro406Thr) | gnomAD v4 |
11 | g.128916687C>G | CA383236320 | KCNJ5 | c.1216C>G (p.Pro406Ala) | |
11 | g.128916687C>T | CA383236319 | KCNJ5 | c.1216C>T (p.Pro406Ser) | |
11 | g.128916688C>A | CA383236323 | KCNJ5 | c.1217C>A (p.Pro406His) | |
11 | g.128916688C= | CA2008294906 | KCNJ5 | c.1217C= (p.Pro406=) | |
11 | g.128916688C>G | CA383236327 | KCNJ5 | c.1217C>G (p.Pro406Arg) | |
11 | g.128916688C>T | CA383236324 | KCNJ5 | c.1217C>T (p.Pro406Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916689C>A | CA477704223 | KCNJ5 | c.1218C>A (p.Pro406=) | |
11 | g.128916689C= | CA2008294907 | KCNJ5 | c.1218C= (p.Pro406=) | |
11 | g.128916689C>G | CA477704225 | KCNJ5 | c.1218C>G (p.Pro406=) | |
11 | g.128916689C>T | CA477704224 | KCNJ5 | c.1218C>T (p.Pro406=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128916690A>C | CA383236329 | KCNJ5 | c.1219A>C (p.Lys407Gln) | |
11 | g.128916690A>G | CA383236332 | KCNJ5 | c.1219A>G (p.Lys407Glu) | |
11 | g.128916690A>T | CA383236330 | KCNJ5 | c.1219A>T (p.Lys407Ter) | |
11 | g.128916691A= | CA2008294908 | KCNJ5 | c.1220A= (p.Lys407=) | |
11 | g.128916691A>C | CA383236335 | KCNJ5 | c.1220A>C (p.Lys407Thr) | |
11 | g.128916691A>G | CA6358023 | KCNJ5 | c.1220A>G (p.Lys407Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128916691A>T | CA383236338 | KCNJ5 | c.1220A>T (p.Lys407Met) | |
11 | g.128916692G>A | CA477704228 | KCNJ5 | c.1221G>A (p.Lys407=) | dbSNP |
11 | g.128916692G>C | CA383236341 | KCNJ5 | c.1221G>C (p.Lys407Asn) | |
11 | g.128916692G= | CA2008294909 | KCNJ5 | c.1221G= (p.Lys407=) | |
11 | g.128916692G>T | CA383236342 | KCNJ5 | c.1221G>T (p.Lys407Asn) | |
11 | g.128916693G>A | CA383236346 | KCNJ5 | c.1222G>A (p.Gly408Arg) | |
11 | g.128916693G>C | CA383236348 | KCNJ5 | c.1222G>C (p.Gly408Arg) | |
11 | g.128916693G>T | CA383236350 | KCNJ5 | c.1222G>T (p.Gly408Trp) | |
11 | g.128916694G>A | CA383236353 | KCNJ5 | c.1223G>A (p.Gly408Glu) | gnomAD v4 |
11 | g.128916694G>C | CA383236355 | KCNJ5 | c.1223G>C (p.Gly408Ala) | |
11 | g.128916694G>T | CA383236357 | KCNJ5 | c.1223G>T (p.Gly408Val) | |
11 | g.128916695G>A | CA477704231 | KCNJ5 | c.1224G>A (p.Gly408=) | |
11 | g.128916695G>C | CA477704233 | KCNJ5 | c.1224G>C (p.Gly408=) | |
11 | g.128916695G>T | CA477704232 | KCNJ5 | c.1224G>T (p.Gly408=) | |
11 | g.128916695_128916696delinsGC | CA2008294910 | KCNJ5 | c.1224_1225delinsGC (p.Gly408=) | |
11 | g.128916696del | CA2008294911 | KCNJ5 | c.1225del (p.Leu409TrpfsTer26) c.1225del (p.Leu409TrpfsTer?) | dbSNP |
11 | g.128916696C>A | CA383236360 | KCNJ5 | c.1225C>A (p.Leu409Met) | |
11 | g.128916696C>G | CA383236362 | KCNJ5 | c.1225C>G (p.Leu409Val) | |
11 | g.128916696C>T | CA477704234 | KCNJ5 | c.1225C>T (p.Leu409=) | gnomAD v4 |
11 | g.128916697T>A | CA383236364 | KCNJ5 | c.1226T>A (p.Leu409Gln) | |
11 | g.128916697T>C | CA383236375 | KCNJ5 | c.1226T>C (p.Leu409Pro) | |
11 | g.128916697T>G | CA383236376 | KCNJ5 | c.1226T>G (p.Leu409Arg) | |
11 | g.128916698G>A | CA230583336 | KCNJ5 | c.1227G>A (p.Leu409=) | dbSNP |
11 | g.128916698G>C | CA477704236 | KCNJ5 | c.1227G>C (p.Leu409=) | ClinVar gnomAD v4 |
11 | g.128916698G= | CA2008294912 | KCNJ5 | c.1227G= (p.Leu409=) | |
11 | g.128916698G>T | CA477704238 | KCNJ5 | c.1227G>T (p.Leu409=) | |
11 | g.128916699G>A | CA230583340 | KCNJ5 | c.1228G>A (p.Gly410Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916699G>C | CA383236381 | KCNJ5 | c.1228G>C (p.Gly410Arg) | gnomAD v4 |
11 | g.128916699G= | CA2008294913 | KCNJ5 | c.1228G= (p.Gly410=) | |
11 | g.128916699G>T | CA383236384 | KCNJ5 | c.1228G>T (p.Gly410Cys) | |
11 | g.128916700G>A | CA383236387 | KCNJ5 | c.1229G>A (p.Gly410Asp) | |
11 | g.128916700G>C | CA383236389 | KCNJ5 | c.1229G>C (p.Gly410Ala) | |
11 | g.128916700G>T | CA383236391 | KCNJ5 | c.1229G>T (p.Gly410Val) | |
11 | g.128916701T>A | CA477704241 | KCNJ5 | c.1230T>A (p.Gly410=) | |
11 | g.128916701T>C | CA477704243 | KCNJ5 | c.1230T>C (p.Gly410=) | gnomAD v4 |
11 | g.128916701T>G | CA6358024 | KCNJ5 | c.1230T>G (p.Gly410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128916701T= | CA2008294914 | KCNJ5 | c.1230T= (p.Gly410=) | |
11 | g.128916702G>A | CA383236397 | KCNJ5 | c.1231G>A (p.Gly411Arg) | ClinVar gnomAD v4 |
11 | g.128916702G>C | CA383236399 | KCNJ5 | c.1231G>C (p.Gly411Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128916702G= | CA2008294915 | KCNJ5 | c.1231G= (p.Gly411=) | |
11 | g.128916702G>T | CA383236395 | KCNJ5 | c.1231G>T (p.Gly411Trp) | gnomAD v4 |
11 | g.128916703G>A | CA383236403 | KCNJ5 | c.1232G>A (p.Gly411Glu) | |
11 | g.128916703G>C | CA383236405 | KCNJ5 | c.1232G>C (p.Gly411Ala) | |
11 | g.128916703G>T | CA383236406 | KCNJ5 | c.1232G>T (p.Gly411Val) | |
11 | g.128916704G>A | CA477704249 | KCNJ5 | c.1233G>A (p.Gly411=) | gnomAD v4 |
11 | g.128916704G>C | CA477704250 | KCNJ5 | c.1233G>C (p.Gly411=) | gnomAD v4 |
11 | g.128916704G>T | CA477704248 | KCNJ5 | c.1233G>T (p.Gly411=) | gnomAD v4 |
11 | g.128916705T>A | CA383236409 | KCNJ5 | c.1234T>A (p.Ser412Thr) | |
11 | g.128916705T>C | CA383236411 | KCNJ5 | c.1234T>C (p.Ser412Pro) | |
11 | g.128916705T>G | CA383236413 | KCNJ5 | c.1234T>G (p.Ser412Ala) | dbSNP |
11 | g.128916705T= | CA2008294916 | KCNJ5 | c.1234T= (p.Ser412=) | |
11 | g.128916706C>A | CA383236416 | KCNJ5 | c.1235C>A (p.Ser412Tyr) | |
11 | g.128916706C>G | CA383236418 | KCNJ5 | c.1235C>G (p.Ser412Cys) | |
11 | g.128916706C>T | CA383236421 | KCNJ5 | c.1235C>T (p.Ser412Phe) | |
11 | g.128916707C>A | CA477704251 | KCNJ5 | c.1236C>A (p.Ser412=) | |
11 | g.128916707C>G | CA477704252 | KCNJ5 | c.1236C>G (p.Ser412=) | |
11 | g.128916707C>T | CA477704254 | KCNJ5 | c.1236C>T (p.Ser412=) | COSMIC |
11 | g.128916708A= | CA2008294917 | KCNJ5 | c.1237A= (p.Arg413=) | |
11 | g.128916708A>C | CA477704257 | KCNJ5 | c.1237A>C (p.Arg413=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916708A>G | CA383236424 | KCNJ5 | c.1237A>G (p.Arg413Gly) | |
11 | g.128916708A>T | CA383236426 | KCNJ5 | c.1237A>T (p.Arg413Trp) | |
11 | g.128916709G>A | CA383236432 | KCNJ5 | c.1238G>A (p.Arg413Lys) | |
11 | g.128916709G>C | CA383236431 | KCNJ5 | c.1238G>C (p.Arg413Thr) | |
11 | g.128916709G>T | CA383236429 | KCNJ5 | c.1238G>T (p.Arg413Met) | gnomAD v4 |
11 | g.128916710G>A | CA477704258 | KCNJ5 | c.1239G>A (p.Arg413=) | |
11 | g.128916710G>C | CA383236433 | KCNJ5 | c.1239G>C (p.Arg413Ser) | |
11 | g.128916710G>T | CA383236434 | KCNJ5 | c.1239G>T (p.Arg413Ser) | |
11 | g.128916711G>A | CA383236435 | KCNJ5 | c.1240G>A (p.Glu414Lys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128916711G>C | CA383236436 | KCNJ5 | c.1240G>C (p.Glu414Gln) | |
11 | g.128916711G= | CA2008294918 | KCNJ5 | c.1240G= (p.Glu414=) | |
11 | g.128916711G>T | CA383236437 | KCNJ5 | c.1240G>T (p.Glu414Ter) | |
11 | g.128916712A>C | CA383236438 | KCNJ5 | c.1241A>C (p.Glu414Ala) | |
11 | g.128916712A>G | CA383236439 | KCNJ5 | c.1241A>G (p.Glu414Gly) | gnomAD v4 |
11 | g.128916712A>T | CA383236440 | KCNJ5 | c.1241A>T (p.Glu414Val) | |
11 | g.128916713G>A | CA477704260 | KCNJ5 | c.1242G>A (p.Glu414=) | |
11 | g.128916713G>C | CA383236441 | KCNJ5 | c.1242G>C (p.Glu414Asp) | |
11 | g.128916713G>T | CA383236442 | KCNJ5 | c.1242G>T (p.Glu414Asp) | |
11 | g.128916714G>A | CA383236443 | KCNJ5 | c.1243G>A (p.Ala415Thr) | gnomAD v4 |
11 | g.128916714G>C | CA383236444 | KCNJ5 | c.1243G>C (p.Ala415Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916714G= | CA2008294919 | KCNJ5 | c.1243G= (p.Ala415=) | |
11 | g.128916714G>T | CA383236445 | KCNJ5 | c.1243G>T (p.Ala415Ser) | gnomAD v4 |
11 | g.128916715C>A | CA383236447 | KCNJ5 | c.1244C>A (p.Ala415Asp) | |
11 | g.128916715C>G | CA383236448 | KCNJ5 | c.1244C>G (p.Ala415Gly) | |
11 | g.128916715C>T | CA383236446 | KCNJ5 | c.1244C>T (p.Ala415Val) | |
11 | g.128916716C>A | CA477525767 | KCNJ5 | c.1245C>A (p.Ala415=) | |
11 | g.128916716C= | CA2008294920 | KCNJ5 | c.1245C= (p.Ala415=) | |
11 | g.128916716C>G | CA477525768 | KCNJ5 | c.1245C>G (p.Ala415=) | ClinVar dbSNP |
11 | g.128916716C>T | CA230583350 | KCNJ5 | c.1245C>T (p.Ala415=) | dbSNP gnomAD v2 |
11 | g.128916717A>C | CA477525769 | KCNJ5 | c.1246A>C (p.Arg416=) | |
11 | g.128916717A>G | CA383236450 | KCNJ5 | c.1246A>G (p.Arg416Gly) | |
11 | g.128916717A>T | CA383236449 | KCNJ5 | c.1246A>T (p.Arg416Trp) | |
11 | g.128916718G>A | CA383236451 | KCNJ5 | c.1247G>A (p.Arg416Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916718G>C | CA383236452 | KCNJ5 | c.1247G>C (p.Arg416Thr) | |
11 | g.128916718G= | CA2008294921 | KCNJ5 | c.1247G= (p.Arg416=) | |
11 | g.128916718G>T | CA383236453 | KCNJ5 | c.1247G>T (p.Arg416Met) | |
11 | g.128916719G>A | CA477525770 | KCNJ5 | c.1248G>A (p.Arg416=) | ClinVar |
11 | g.128916719G>C | CA230583354 | KCNJ5 | c.1248G>C (p.Arg416Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.128916719G= | CA2008294922 | KCNJ5 | c.1248G= (p.Arg416=) | |
11 | g.128916719G>T | CA383236454 | KCNJ5 | c.1248G>T (p.Arg416Ser) | |
11 | g.128916720G>A | CA383236457 | KCNJ5 | c.1249G>A (p.Gly417Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128916720G>C | CA383236459 | KCNJ5 | c.1249G>C (p.Gly417Arg) | |
11 | g.128916720G= | CA2008294923 | KCNJ5 | c.1249G= (p.Gly417=) | |
11 | g.128916720G>T | CA383236460 | KCNJ5 | c.1249G>T (p.Gly417Cys) | |
11 | g.128916721G>A | CA383236462 | KCNJ5 | c.1250G>A (p.Gly417Asp) | gnomAD v4 |
11 | g.128916721G>C | CA383236464 | KCNJ5 | c.1250G>C (p.Gly417Ala) | gnomAD v4 |
11 | g.128916721G>T | CA383236466 | KCNJ5 | c.1250G>T (p.Gly417Val) | gnomAD v4 |
11 | g.128916722C>A | CA477525771 | KCNJ5 | c.1251C>A (p.Gly417=) | gnomAD v4 |
11 | g.128916722C>G | CA477525772 | KCNJ5 | c.1251C>G (p.Gly417=) | |
11 | g.128916722C>T | CA477525773 | KCNJ5 | c.1251C>T (p.Gly417=) | gnomAD v4 |
11 | g.128916723T>A | CA383236472 | KCNJ5 | c.1252T>A (p.Ser418Thr) | |
11 | g.128916723T>C | CA383236470 | KCNJ5 | c.1252T>C (p.Ser418Pro) | |
11 | g.128916723T>G | CA383236468 | KCNJ5 | c.1252T>G (p.Ser418Ala) | |
11 | g.128916724C>A | CA383236473 | KCNJ5 | c.1253C>A (p.Ser418Ter) | |
11 | g.128916724C= | CA2008294924 | KCNJ5 | c.1253C= (p.Ser418=) | |
11 | g.128916724C>G | CA383236475 | KCNJ5 | c.1253C>G (p.Ser418Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916724C>T | CA6358025 | KCNJ5 | c.1253C>T (p.Ser418Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128916725G>A | CA6358026 | KCNJ5 | c.1254G>A (p.Ser418=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916725G>C | CA477525774 | KCNJ5 | c.1254G>C (p.Ser418=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916725G= | CA2008294925 | KCNJ5 | c.1254G= (p.Ser418=) | |
11 | g.128916725G>T | CA477525775 | KCNJ5 | c.1254G>T (p.Ser418=) | gnomAD v4 |