Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128916654_128916666dup | CA2616776069 | KCNJ5 | c.1183_1195dup (p.Glu399GlyfsTer5) | gnomAD v4 |
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.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.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 |
11 | g.128916726G>A | CA383236480 | KCNJ5 | c.1255G>A (p.Val419Met) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128916726G>C | CA383236484 | KCNJ5 | c.1255G>C (p.Val419Leu) | |
11 | g.128916726G= | CA2008294926 | KCNJ5 | c.1255G= (p.Val419=) | |
11 | g.128916726G>T | CA383236486 | KCNJ5 | c.1255G>T (p.Val419Leu) | |
11 | g.128916727T>A | CA383236489 | KCNJ5 | c.1256T>A (p.Val419Glu) | |
11 | g.128916727T>C | CA383236490 | KCNJ5 | c.1256T>C (p.Val419Ala) | |
11 | g.128916727T>G | CA383236493 | KCNJ5 | c.1256T>G (p.Val419Gly) | |
11 | g.128916728G>A | CA477525776 | KCNJ5 | c.1257G>A (p.Val419=) | |
11 | g.128916728G>C | CA477525777 | KCNJ5 | c.1257G>C (p.Val419=) | |
11 | g.128916728G>T | CA477525778 | KCNJ5 | c.1257G>T (p.Val419=) | |
11 | g.128916729T>A | CA383236495 | KCNJ5 | c.1258T>A (p.Ter420Arg) | |
11 | g.128916729T>C | CA383236497 | KCNJ5 | c.1258T>C (p.Ter420Arg) | |
11 | g.128916729T>G | CA383236499 | KCNJ5 | c.1258T>G (p.Ter420Gly) | |
11 | g.128916730G>A | CA477525779 | KCNJ5 | c.1259G>A (p.Ter420=) | gnomAD v4 |
11 | g.128916730G>C | CA383236501 | KCNJ5 | c.1259G>C (p.Ter420Ser) | |
11 | g.128916730G>T | CA383236503 | KCNJ5 | c.1259G>T (p.Ter420Leu) | gnomAD v4 |
11 | g.128916731A>C | CA383236505 | KCNJ5 | c.1260A>C (p.Ter420Cys) | |
11 | g.128916731A>G | CA383236507 | KCNJ5 | c.1260A>G (p.Ter420Trp) | gnomAD v4 |
11 | g.128916731A>T | CA383236508 | KCNJ5 | c.1260A>T (p.Ter420Cys) | |
11 | g.128916731_128916732delinsAG | CA2008294927 | KCNJ5 | c.1260_*1delinsAG (n.[c.1260_*1delinsAG;Ter420=]) | |
11 | g.128916732G= | CA2008294928 | KCNJ5 | c.*1G= (n.*1G=) | |
11 | g.128916732G>T | CA2008294929 | KCNJ5 | c.*1G>T (n.*1G>T) | dbSNP gnomAD v4 |
11 | g.128916735del | CA6358027 | KCNJ5 | c.*4del (n.*4del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128916733G>T | CA2616776150 | KCNJ5 | c.*2G>T (n.*2G>T) | gnomAD v4 |
11 | g.128916735G>A | CA2575025438 | KCNJ5 | c.*4G>A (n.*4G>A) | gnomAD v4 |
11 | g.128916735G= | CA2008294930 | KCNJ5 | c.*4G= (n.*4G=) | |
11 | g.128916735G>T | CA2008294931 | KCNJ5 | c.*4G>T (n.*4G>T) | dbSNP gnomAD v4 |
11 | g.128916736T>G | CA2008294933 | KCNJ5 | c.*5T>G (n.*5T>G) | dbSNP |
11 | g.128916736T= | CA2008294932 | KCNJ5 | c.*5T= (n.*5T=) | |
11 | g.128916737G>A | CA654287413 | KCNJ5 | c.*6G>A (n.*6G>A) | gnomAD v4 COSMIC |
11 | g.128916737G>C | CA2695215919 | KCNJ5 | c.*6G>C (n.*6G>C) | |
11 | g.128916737G>T | CA2616776152 | KCNJ5 | c.*6G>T (n.*6G>T) | gnomAD v4 |
11 | g.128916738C>A | CA2616776153 | KCNJ5 | c.*7C>A (n.*7C>A) | gnomAD v4 |
11 | g.128916738C= | CA2008294934 | KCNJ5 | c.*7C= (n.*7C=) | |
11 | g.128916738C>T | CA602366018 | KCNJ5 | c.*7C>T (n.*7C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916739A= | CA2008294935 | KCNJ5 | c.*8A= (n.*8A=) | |
11 | g.128916739A>G | CA602366019 | KCNJ5 | c.*8A>G (n.*8A>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916740G>A | CA2616776156 | KCNJ5 | c.*9G>A (n.*9G>A) | gnomAD v4 |
11 | g.128916740G>T | CA2616776155 | KCNJ5 | c.*9G>T (n.*9G>T) | gnomAD v4 |
11 | g.128916741C>A | CA2616776158 | KCNJ5 | c.*10C>A (n.*10C>A) | gnomAD v4 |
11 | g.128916741C>T | CA2616776159 | KCNJ5 | c.*10C>T (n.*10C>T) | gnomAD v4 |
11 | g.128916742C>A | CA2616776161 | KCNJ5 | c.*11C>A (n.*11C>A) | gnomAD v4 |
11 | g.128916742C>T | CA2616776162 | KCNJ5 | c.*11C>T (n.*11C>T) | gnomAD v4 |
11 | g.128916743T>C | CA2616776164 | KCNJ5 | c.*12T>C (n.*12T>C) | gnomAD v4 |
11 | g.128916744C>T | CA2616776165 | KCNJ5 | c.*13C>T (n.*13C>T) | gnomAD v4 |
11 | g.128916745C>T | CA2616776167 | KCNJ5 | c.*14C>T (n.*14C>T) | gnomAD v4 |
11 | g.128916746C>A | CA2616776168 | KCNJ5 | c.*15C>A (n.*15C>A) | gnomAD v4 |
11 | g.128916746C>G | CA2616776169 | KCNJ5 | c.*15C>G (n.*15C>G) | gnomAD v4 |
11 | g.128916746C>T | CA2616776170 | KCNJ5 | c.*15C>T (n.*15C>T) | gnomAD v4 |
11 | g.128916747T>C | CA2616776172 | KCNJ5 | c.*16T>C (n.*16T>C) | gnomAD v4 |
11 | g.128916748A>G | CA2616776174 | KCNJ5 | c.*17A>G (n.*17A>G) | gnomAD v4 |
11 | g.128916748A>T | CA2616776173 | KCNJ5 | c.*17A>T (n.*17A>T) | gnomAD v4 |
11 | g.128916749A>C | CA2616776175 | KCNJ5 | c.*18A>C (n.*18A>C) | gnomAD v4 |
11 | g.128916751A= | CA2008294936 | KCNJ5 | c.*20A= (n.*20A=) | |
11 | g.128916751A>C | CA2008294937 | KCNJ5 | c.*20A>C (n.*20A>C) | dbSNP gnomAD v4 |
11 | g.128916751A>G | CA2616776176 | KCNJ5 | c.*20A>G (n.*20A>G) | gnomAD v4 |
11 | g.128916752C>A | CA2616776177 | KCNJ5 | c.*21C>A (n.*21C>A) | gnomAD v4 |
11 | g.128916753C>A | CA2616776179 | KCNJ5 | c.*22C>A (n.*22C>A) | gnomAD v4 |
11 | g.128916753_128916828dup | CA2616776178 | KCNJ5 | c.*22_*97dup (n.*22_*97dup) | gnomAD v4 |
11 | g.128916754T>C | CA2616776181 | KCNJ5 | c.*23T>C (n.*23T>C) | gnomAD v4 |
11 | g.128916755C>A | CA2538519274 | KCNJ5 | c.*24C>A (n.*24C>A) | gnomAD v4 |
11 | g.128916756C>A | CA2616776182 | KCNJ5 | c.*25C>A (n.*25C>A) | gnomAD v4 |
11 | g.128916756C>T | CA2616776183 | KCNJ5 | c.*25C>T (n.*25C>T) | gnomAD v4 |
11 | g.128916757T>C | CA2575025439 | KCNJ5 | c.*26T>C (n.*26T>C) | gnomAD v4 |
11 | g.128916758G>A | CA2616776186 | KCNJ5 | c.*27G>A (n.*27G>A) | gnomAD v4 |
11 | g.128916758G= | CA2008294938 | KCNJ5 | c.*27G= (n.*27G=) | |
11 | g.128916758G>T | CA602366021 | KCNJ5 | c.*27G>T (n.*27G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916759T>C | CA2616776188 | KCNJ5 | c.*28T>C (n.*28T>C) | gnomAD v4 |
11 | g.128916759T>G | CA2616776187 | KCNJ5 | c.*28T>G (n.*28T>G) | gnomAD v4 |
11 | g.128916760C>A | CA2523693351 | KCNJ5 | c.*29C>A (n.*29C>A) | gnomAD v4 |
11 | g.128916760C= | CA2008294939 | KCNJ5 | c.*29C= (n.*29C=) | |
11 | g.128916760C>T | CA602366023 | KCNJ5 | c.*29C>T (n.*29C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128916761A>G | CA2616776190 | KCNJ5 | c.*30A>G (n.*30A>G) | gnomAD v4 |
11 | g.128916762C>A | CA2616776192 | KCNJ5 | c.*31C>A (n.*31C>A) | gnomAD v4 |
11 | g.128916762C= | CA2008294940 | KCNJ5 | c.*31C= (n.*31C=) | |
11 | g.128916762C>G | CA6358028 | KCNJ5 | c.*31C>G (n.*31C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128916763T>A | CA2575025440 | KCNJ5 | c.*32T>A (n.*32T>A) | gnomAD v4 |
11 | g.128916763T>C | CA943430953 | KCNJ5 | c.*32T>C (n.*32T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128916763T>G | CA602366026 | KCNJ5 | c.*32T>G (n.*32T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128916763T= | CA2008294941 | KCNJ5 | c.*32T= (n.*32T=) |