Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41985126G>A | CA406053155 | ATP1A3 | c.824C>T (p.Thr275Ile) c.785C>T (p.Thr262Ile) c.695C>T (p.Thr232Ile) n.98C>T c.818C>T (p.Thr273Ile) | |
19 | g.41985126G>C | CA406053153 | ATP1A3 | c.824C>G (p.Thr275Ser) c.785C>G (p.Thr262Ser) c.695C>G (p.Thr232Ser) n.98C>G c.818C>G (p.Thr273Ser) | |
19 | g.41985126G>T | CA406053151 | ATP1A3 | c.824C>A (p.Thr275Asn) c.785C>A (p.Thr262Asn) c.695C>A (p.Thr232Asn) n.98C>A c.818C>A (p.Thr273Asn) | |
19 | g.41985127T>A | CA406053157 | ATP1A3 | c.823A>T (p.Thr275Ser) c.784A>T (p.Thr262Ser) c.694A>T (p.Thr232Ser) n.97A>T c.817A>T (p.Thr273Ser) | |
19 | g.41985127T>C | CA406053158 | ATP1A3 | c.823A>G (p.Thr275Ala) c.784A>G (p.Thr262Ala) c.694A>G (p.Thr232Ala) n.97A>G c.817A>G (p.Thr273Ala) | |
19 | g.41985127T>G | CA406053160 | ATP1A3 | c.823A>C (p.Thr275Pro) c.784A>C (p.Thr262Pro) c.694A>C (p.Thr232Pro) n.97A>C c.817A>C (p.Thr273Pro) | |
19 | g.41985128G>A | CA507695201 | ATP1A3 | c.822C>T (p.Ala274=) c.783C>T (p.Ala261=) c.693C>T (p.Ala231=) n.96C>T c.816C>T (p.Ala272=) | gnomAD v4 |
19 | g.41985128G>C | CA507695202 | ATP1A3 | c.822C>G (p.Ala274=) c.783C>G (p.Ala261=) c.693C>G (p.Ala231=) n.96C>G c.816C>G (p.Ala272=) | |
19 | g.41985128G>T | CA507695203 | ATP1A3 | c.822C>A (p.Ala274=) c.783C>A (p.Ala261=) c.693C>A (p.Ala231=) n.96C>A c.816C>A (p.Ala272=) | |
19 | g.41985129G>A | CA406053161 | ATP1A3 | c.821C>T (p.Ala274Val) c.782C>T (p.Ala261Val) c.692C>T (p.Ala231Val) n.95C>T c.815C>T (p.Ala272Val) | |
19 | g.41985129G>C | CA406053163 | ATP1A3 | c.821C>G (p.Ala274Gly) c.782C>G (p.Ala261Gly) c.692C>G (p.Ala231Gly) n.95C>G c.815C>G (p.Ala272Gly) | |
19 | g.41985129G>T | CA406053165 | ATP1A3 | c.821C>A (p.Ala274Asp) c.782C>A (p.Ala261Asp) c.692C>A (p.Ala231Asp) n.95C>A c.815C>A (p.Ala272Asp) | |
19 | g.41985130C>A | CA406053170 | ATP1A3 | c.820G>T (p.Ala274Ser) c.781G>T (p.Ala261Ser) c.691G>T (p.Ala231Ser) n.94G>T c.814G>T (p.Ala272Ser) | |
19 | g.41985130C>G | CA406053167 | ATP1A3 | c.820G>C (p.Ala274Pro) c.781G>C (p.Ala261Pro) c.691G>C (p.Ala231Pro) n.94G>C c.814G>C (p.Ala272Pro) | |
19 | g.41985130C>T | CA406053168 | ATP1A3 | c.820G>A (p.Ala274Thr) c.781G>A (p.Ala261Thr) c.691G>A (p.Ala231Thr) n.94G>A c.814G>A (p.Ala272Thr) | |
19 | g.41985131G>A | CA507695205 | ATP1A3 | c.819C>T (p.Ile273=) c.780C>T (p.Ile260=) c.690C>T (p.Ile230=) n.93C>T c.813C>T (p.Ile271=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.41985131G>C | CA406053172 | ATP1A3 | c.819C>G (p.Ile273Met) c.780C>G (p.Ile260Met) c.690C>G (p.Ile230Met) n.93C>G c.813C>G (p.Ile271Met) | COSMIC |
19 | g.41985131G= | CA2336728040 | ATP1A3 | c.819C= (p.Ile273=) c.780C= (p.Ile260=) c.690C= (p.Ile230=) n.93C= c.813C= (p.Ile271=) | |
19 | g.41985131G>T | CA507695207 | ATP1A3 | c.819C>A (p.Ile273=) c.780C>A (p.Ile260=) c.690C>A (p.Ile230=) n.93C>A c.813C>A (p.Ile271=) | |
19 | g.41985132A>C | CA406053174 | ATP1A3 | c.818T>G (p.Ile273Ser) c.779T>G (p.Ile260Ser) c.689T>G (p.Ile230Ser) n.92T>G c.812T>G (p.Ile271Ser) | |
19 | g.41985132A>G | CA406053175 | ATP1A3 | c.818T>C (p.Ile273Thr) c.779T>C (p.Ile260Thr) c.689T>C (p.Ile230Thr) n.92T>C c.812T>C (p.Ile271Thr) | |
19 | g.41985132A>T | CA406053177 | ATP1A3 | c.818T>A (p.Ile273Asn) c.779T>A (p.Ile260Asn) c.689T>A (p.Ile230Asn) n.92T>A c.812T>A (p.Ile271Asn) | |
19 | g.41985133T>A | CA406053179 | ATP1A3 | c.817A>T (p.Ile273Phe) c.778A>T (p.Ile260Phe) c.688A>T (p.Ile230Phe) n.91A>T c.811A>T (p.Ile271Phe) | |
19 | g.41985133T>C | CA406053181 | ATP1A3 | c.817A>G (p.Ile273Val) c.778A>G (p.Ile260Val) c.688A>G (p.Ile230Val) n.91A>G c.811A>G (p.Ile271Val) | |
19 | g.41985133T>G | CA406053182 | ATP1A3 | c.817A>C (p.Ile273Leu) c.778A>C (p.Ile260Leu) c.688A>C (p.Ile230Leu) n.91A>C c.811A>C (p.Ile271Leu) | |
19 | g.41985134A>C | CA507695210 | ATP1A3 | c.816T>G (p.Arg272=) c.777T>G (p.Arg259=) c.687T>G (p.Arg229=) n.90T>G c.810T>G (p.Arg270=) | |
19 | g.41985134A>G | CA507695211 | ATP1A3 | c.816T>C (p.Arg272=) c.777T>C (p.Arg259=) c.687T>C (p.Arg229=) n.90T>C c.810T>C (p.Arg270=) | |
19 | g.41985134A>T | CA507695212 | ATP1A3 | c.816T>A (p.Arg272=) c.777T>A (p.Arg259=) c.687T>A (p.Arg229=) n.90T>A c.810T>A (p.Arg270=) | |
19 | g.41985135C>A | CA406053183 | ATP1A3 | c.815G>T (p.Arg272Leu) c.776G>T (p.Arg259Leu) c.686G>T (p.Arg229Leu) n.89G>T c.809G>T (p.Arg270Leu) | |
19 | g.41985135C= | CA2336728041 | ATP1A3 | c.815G= (p.Arg272=) c.776G= (p.Arg259=) c.686G= (p.Arg229=) n.89G= c.809G= (p.Arg270=) | |
19 | g.41985135C>G | CA406053184 | ATP1A3 | c.815G>C (p.Arg272Pro) c.776G>C (p.Arg259Pro) c.686G>C (p.Arg229Pro) n.89G>C c.809G>C (p.Arg270Pro) | |
19 | g.41985135C>T | CA406053185 | ATP1A3 | c.815G>A (p.Arg272His) c.776G>A (p.Arg259His) c.686G>A (p.Arg229His) n.89G>A c.809G>A (p.Arg270His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.41985136G>A | CA406053186 | ATP1A3 | c.814C>T (p.Arg272Cys) c.775C>T (p.Arg259Cys) c.685C>T (p.Arg229Cys) n.88C>T c.808C>T (p.Arg270Cys) | ClinVar dbSNP |
19 | g.41985136G>C | CA406053187 | ATP1A3 | c.814C>G (p.Arg272Gly) c.775C>G (p.Arg259Gly) c.685C>G (p.Arg229Gly) n.88C>G c.808C>G (p.Arg270Gly) | |
19 | g.41985136G>T | CA406053188 | ATP1A3 | c.814C>A (p.Arg272Ser) c.775C>A (p.Arg259Ser) c.685C>A (p.Arg229Ser) n.88C>A c.808C>A (p.Arg270Ser) | |
19 | g.41985137G>A | CA507695221 | ATP1A3 | c.813C>T (p.Gly271=) c.774C>T (p.Gly258=) c.684C>T (p.Gly228=) n.87C>T c.807C>T (p.Gly269=) | COSMIC |
19 | g.41985137G>C | CA507695220 | ATP1A3 | c.813C>G (p.Gly271=) c.774C>G (p.Gly258=) c.684C>G (p.Gly228=) n.87C>G c.807C>G (p.Gly269=) | gnomAD v4 |
19 | g.41985137G>T | CA507695218 | ATP1A3 | c.813C>A (p.Gly271=) c.774C>A (p.Gly258=) c.684C>A (p.Gly228=) n.87C>A c.807C>A (p.Gly269=) | |
19 | g.41985138C>A | CA406053189 | ATP1A3 | c.812G>T (p.Gly271Val) c.773G>T (p.Gly258Val) c.683G>T (p.Gly228Val) n.86G>T c.806G>T (p.Gly269Val) | |
19 | g.41985138C>G | CA406053191 | ATP1A3 | c.812G>C (p.Gly271Ala) c.773G>C (p.Gly258Ala) c.683G>C (p.Gly228Ala) n.86G>C c.806G>C (p.Gly269Ala) | |
19 | g.41985138C>T | CA406053190 | ATP1A3 | c.812G>A (p.Gly271Asp) c.773G>A (p.Gly258Asp) c.683G>A (p.Gly228Asp) n.86G>A c.806G>A (p.Gly269Asp) | |
19 | g.41985139C>A | CA406053192 | ATP1A3 | c.811G>T (p.Gly271Cys) c.772G>T (p.Gly258Cys) c.682G>T (p.Gly228Cys) n.85G>T c.805G>T (p.Gly269Cys) | |
19 | g.41985139C>G | CA406053193 | ATP1A3 | c.811G>C (p.Gly271Arg) c.772G>C (p.Gly258Arg) c.682G>C (p.Gly228Arg) n.85G>C c.805G>C (p.Gly269Arg) | |
19 | g.41985139C>T | CA406053194 | ATP1A3 | c.811G>A (p.Gly271Ser) c.772G>A (p.Gly258Ser) c.682G>A (p.Gly228Ser) n.85G>A c.805G>A (p.Gly269Ser) | |
19 | g.41985140C>A | CA406053195 | ATP1A3 | c.810G>T (p.Met270Ile) c.771G>T (p.Met257Ile) c.681G>T (p.Met227Ile) n.84G>T c.804G>T (p.Met268Ile) | |
19 | g.41985140C>G | CA406053196 | ATP1A3 | c.810G>C (p.Met270Ile) c.771G>C (p.Met257Ile) c.681G>C (p.Met227Ile) n.84G>C c.804G>C (p.Met268Ile) | |
19 | g.41985140C>T | CA406053197 | ATP1A3 | c.810G>A (p.Met270Ile) c.771G>A (p.Met257Ile) c.681G>A (p.Met227Ile) n.84G>A c.804G>A (p.Met268Ile) | gnomAD v4 |
19 | g.41985141A>C | CA406053199 | ATP1A3 | c.809T>G (p.Met270Arg) c.770T>G (p.Met257Arg) c.680T>G (p.Met227Arg) n.83T>G c.803T>G (p.Met268Arg) | |
19 | g.41985141A>G | CA406053200 | ATP1A3 | c.809T>C (p.Met270Thr) c.770T>C (p.Met257Thr) c.680T>C (p.Met227Thr) n.83T>C c.803T>C (p.Met268Thr) | |
19 | g.41985141A>T | CA406053201 | ATP1A3 | c.809T>A (p.Met270Lys) c.770T>A (p.Met257Lys) c.680T>A (p.Met227Lys) n.83T>A c.803T>A (p.Met268Lys) | |
19 | g.41985142T>A | CA406053202 | ATP1A3 | c.808A>T (p.Met270Leu) c.769A>T (p.Met257Leu) c.679A>T (p.Met227Leu) n.82A>T c.802A>T (p.Met268Leu) | |
19 | g.41985142T>C | CA406053203 | ATP1A3 | c.808A>G (p.Met270Val) c.769A>G (p.Met257Val) c.679A>G (p.Met227Val) n.82A>G c.802A>G (p.Met268Val) | |
19 | g.41985142T>G | CA406053204 | ATP1A3 | c.808A>C (p.Met270Leu) c.769A>C (p.Met257Leu) c.679A>C (p.Met227Leu) n.82A>C c.802A>C (p.Met268Leu) | |
19 | g.41985143G>A | CA507695230 | ATP1A3 | c.807C>T (p.Val269=) c.768C>T (p.Val256=) c.678C>T (p.Val226=) n.81C>T c.801C>T (p.Val267=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.41985143G>C | CA507695234 | ATP1A3 | c.807C>G (p.Val269=) c.768C>G (p.Val256=) c.678C>G (p.Val226=) n.81C>G c.801C>G (p.Val267=) | |
19 | g.41985143G= | CA2336728042 | ATP1A3 | c.807C= (p.Val269=) c.768C= (p.Val256=) c.678C= (p.Val226=) n.81C= c.801C= (p.Val267=) | |
19 | g.41985143G>T | CA507695231 | ATP1A3 | c.807C>A (p.Val269=) c.768C>A (p.Val256=) c.678C>A (p.Val226=) n.81C>A c.801C>A (p.Val267=) | |
19 | g.41985144A>C | CA406053207 | ATP1A3 | c.806T>G (p.Val269Gly) c.767T>G (p.Val256Gly) c.677T>G (p.Val226Gly) n.80T>G c.800T>G (p.Val267Gly) | |
19 | g.41985144A>G | CA406053206 | ATP1A3 | c.806T>C (p.Val269Ala) c.767T>C (p.Val256Ala) c.677T>C (p.Val226Ala) n.80T>C c.800T>C (p.Val267Ala) | |
19 | g.41985144A>T | CA406053205 | ATP1A3 | c.806T>A (p.Val269Asp) c.767T>A (p.Val256Asp) c.677T>A (p.Val226Asp) n.80T>A c.800T>A (p.Val267Asp) | |
19 | g.41985145C>A | CA406053208 | ATP1A3 | c.805G>T (p.Val269Phe) c.766G>T (p.Val256Phe) c.676G>T (p.Val226Phe) n.79G>T c.799G>T (p.Val267Phe) | |
19 | g.41985145C>G | CA406053209 | ATP1A3 | c.805G>C (p.Val269Leu) c.766G>C (p.Val256Leu) c.676G>C (p.Val226Leu) n.79G>C c.799G>C (p.Val267Leu) | |
19 | g.41985145C>T | CA406053210 | ATP1A3 | c.805G>A (p.Val269Ile) c.766G>A (p.Val256Ile) c.676G>A (p.Val226Ile) n.79G>A c.799G>A (p.Val267Ile) | |
19 | g.41985146A>C | CA507695239 | ATP1A3 | c.804T>G (p.Thr268=) c.765T>G (p.Thr255=) c.675T>G (p.Thr225=) n.78T>G c.798T>G (p.Thr266=) | |
19 | g.41985146A>G | CA507695238 | ATP1A3 | c.804T>C (p.Thr268=) c.765T>C (p.Thr255=) c.675T>C (p.Thr225=) n.78T>C c.798T>C (p.Thr266=) | |
19 | g.41985146A>T | CA507695237 | ATP1A3 | c.804T>A (p.Thr268=) c.765T>A (p.Thr255=) c.675T>A (p.Thr225=) n.78T>A c.798T>A (p.Thr266=) | |
19 | g.41985147G>A | CA406053211 | ATP1A3 | c.803C>T (p.Thr268Ile) c.764C>T (p.Thr255Ile) c.674C>T (p.Thr225Ile) n.77C>T c.797C>T (p.Thr266Ile) | |
19 | g.41985147G>C | CA406053212 | ATP1A3 | c.803C>G (p.Thr268Ser) c.764C>G (p.Thr255Ser) c.674C>G (p.Thr225Ser) n.77C>G c.797C>G (p.Thr266Ser) | |
19 | g.41985147G>T | CA406053213 | ATP1A3 | c.803C>A (p.Thr268Asn) c.764C>A (p.Thr255Asn) c.674C>A (p.Thr225Asn) n.77C>A c.797C>A (p.Thr266Asn) | COSMIC |
19 | g.41985148T>A | CA406053214 | ATP1A3 | c.802A>T (p.Thr268Ser) c.763A>T (p.Thr255Ser) c.673A>T (p.Thr225Ser) n.76A>T c.796A>T (p.Thr266Ser) | gnomAD v4 |
19 | g.41985148T>C | CA406053215 | ATP1A3 | c.802A>G (p.Thr268Ala) c.763A>G (p.Thr255Ala) c.673A>G (p.Thr225Ala) n.76A>G c.796A>G (p.Thr266Ala) | |
19 | g.41985148T>G | CA406053216 | ATP1A3 | c.802A>C (p.Thr268Pro) c.763A>C (p.Thr255Pro) c.673A>C (p.Thr225Pro) n.76A>C c.796A>C (p.Thr266Pro) | |
19 | g.41985149G>A | CA507695243 | ATP1A3 | c.801C>T (p.Arg267=) c.762C>T (p.Arg254=) c.672C>T (p.Arg224=) n.75C>T c.795C>T (p.Arg265=) | ClinVar |
19 | g.41985149G>C | CA507695247 | ATP1A3 | c.801C>G (p.Arg267=) c.762C>G (p.Arg254=) c.672C>G (p.Arg224=) n.75C>G c.795C>G (p.Arg265=) | |
19 | g.41985149G>T | CA507695244 | ATP1A3 | c.801C>A (p.Arg267=) c.762C>A (p.Arg254=) c.672C>A (p.Arg224=) n.75C>A c.795C>A (p.Arg265=) | gnomAD v4 |
19 | g.41985150C>A | CA406053217 | ATP1A3 | c.800G>T (p.Arg267Leu) c.761G>T (p.Arg254Leu) c.671G>T (p.Arg224Leu) n.74G>T c.794G>T (p.Arg265Leu) | |
19 | g.41985150C= | CA2336728043 | ATP1A3 | c.800G= (p.Arg267=) c.761G= (p.Arg254=) c.671G= (p.Arg224=) n.74G= c.794G= (p.Arg265=) | |
19 | g.41985150C>G | CA406053218 | ATP1A3 | c.800G>C (p.Arg267Pro) c.761G>C (p.Arg254Pro) c.671G>C (p.Arg224Pro) n.74G>C c.794G>C (p.Arg265Pro) | |
19 | g.41985150C>T | CA406053219 | ATP1A3 | c.800G>A (p.Arg267His) c.761G>A (p.Arg254His) c.671G>A (p.Arg224His) n.74G>A c.794G>A (p.Arg265His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985152_41985155dup | CA2585370644 | ATP1A3 | c.797_800dup (p.Thr268ProfsTer26) c.758_761dup (p.Thr255ProfsTer26) c.668_671dup (p.Thr225ProfsTer26) n.71_74dup c.791_794dup (p.Thr266ProfsTer26) | gnomAD v4 |
19 | g.41985151G>A | CA9467779 | ATP1A3 | c.799C>T (p.Arg267Cys) c.760C>T (p.Arg254Cys) c.670C>T (p.Arg224Cys) n.73C>T c.793C>T (p.Arg265Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985151G>C | CA406053221 | ATP1A3 | c.799C>G (p.Arg267Gly) c.760C>G (p.Arg254Gly) c.670C>G (p.Arg224Gly) n.73C>G c.793C>G (p.Arg265Gly) | |
19 | g.41985151G= | CA2336728044 | ATP1A3 | c.799C= (p.Arg267=) c.760C= (p.Arg254=) c.670C= (p.Arg224=) n.73C= c.793C= (p.Arg265=) | |
19 | g.41985151G>T | CA406053220 | ATP1A3 | c.799C>A (p.Arg267Ser) c.760C>A (p.Arg254Ser) c.670C>A (p.Arg224Ser) n.73C>A c.793C>A (p.Arg265Ser) | |
19 | g.41985152G>A | CA308597298 | ATP1A3 | c.798C>T (p.Asp266=) c.759C>T (p.Asp253=) c.669C>T (p.Asp223=) n.72C>T c.792C>T (p.Asp264=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41985152G>C | CA406053222 | ATP1A3 | c.798C>G (p.Asp266Glu) c.759C>G (p.Asp253Glu) c.669C>G (p.Asp223Glu) n.72C>G c.792C>G (p.Asp264Glu) | |
19 | g.41985152G= | CA2336728045 | ATP1A3 | c.798C= (p.Asp266=) c.759C= (p.Asp253=) c.669C= (p.Asp223=) n.72C= c.792C= (p.Asp264=) | |
19 | g.41985152G>T | CA406053223 | ATP1A3 | c.798C>A (p.Asp266Glu) c.759C>A (p.Asp253Glu) c.669C>A (p.Asp223Glu) n.72C>A c.792C>A (p.Asp264Glu) | |
19 | g.41985153T>A | CA406053224 | ATP1A3 | c.797A>T (p.Asp266Val) c.758A>T (p.Asp253Val) c.668A>T (p.Asp223Val) n.71A>T c.791A>T (p.Asp264Val) | |
19 | g.41985153T>C | CA406053225 | ATP1A3 | c.797A>G (p.Asp266Gly) c.758A>G (p.Asp253Gly) c.668A>G (p.Asp223Gly) n.71A>G c.791A>G (p.Asp264Gly) | |
19 | g.41985153T>G | CA406053226 | ATP1A3 | c.797A>C (p.Asp266Ala) c.758A>C (p.Asp253Ala) c.668A>C (p.Asp223Ala) n.71A>C c.791A>C (p.Asp264Ala) | |
19 | g.41985154C>A | CA406053227 | ATP1A3 | c.796G>T (p.Asp266Tyr) c.757G>T (p.Asp253Tyr) c.667G>T (p.Asp223Tyr) n.70G>T c.790G>T (p.Asp264Tyr) | gnomAD v4 |
19 | g.41985154C= | CA2336728046 | ATP1A3 | c.796G= (p.Asp266=) c.757G= (p.Asp253=) c.667G= (p.Asp223=) n.70G= c.790G= (p.Asp264=) | |
19 | g.41985154C>G | CA406053228 | ATP1A3 | c.796G>C (p.Asp266His) c.757G>C (p.Asp253His) c.667G>C (p.Asp223His) n.70G>C c.790G>C (p.Asp264His) | |
19 | g.41985154C>T | CA16608258 | ATP1A3 | c.796G>A (p.Asp266Asn) c.757G>A (p.Asp253Asn) c.667G>A (p.Asp223Asn) n.70G>A c.790G>A (p.Asp264Asn) | ClinVar dbSNP gnomAD v4 |
19 | g.41985155G>A | CA9467780 | ATP1A3 | c.795C>T (p.Gly265=) c.756C>T (p.Gly252=) c.666C>T (p.Gly222=) n.69C>T c.789C>T (p.Gly263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985155G>C | CA507695257 | ATP1A3 | c.795C>G (p.Gly265=) c.756C>G (p.Gly252=) c.666C>G (p.Gly222=) n.69C>G c.789C>G (p.Gly263=) | |
19 | g.41985155G= | CA2336728047 | ATP1A3 | c.795C= (p.Gly265=) c.756C= (p.Gly252=) c.666C= (p.Gly222=) n.69C= c.789C= (p.Gly263=) | |
19 | g.41985155G>T | CA507695258 | ATP1A3 | c.795C>A (p.Gly265=) c.756C>A (p.Gly252=) c.666C>A (p.Gly222=) n.69C>A c.789C>A (p.Gly263=) | |
19 | g.41985156C>A | CA406053229 | ATP1A3 | c.794G>T (p.Gly265Val) c.755G>T (p.Gly252Val) c.665G>T (p.Gly222Val) n.68G>T c.788G>T (p.Gly263Val) | |
19 | g.41985156C>G | CA406053230 | ATP1A3 | c.794G>C (p.Gly265Ala) c.755G>C (p.Gly252Ala) c.665G>C (p.Gly222Ala) n.68G>C c.788G>C (p.Gly263Ala) | |
19 | g.41985156C>T | CA406053231 | ATP1A3 | c.794G>A (p.Gly265Asp) c.755G>A (p.Gly252Asp) c.665G>A (p.Gly222Asp) n.68G>A c.788G>A (p.Gly263Asp) | |
19 | g.41985157C>A | CA406053234 | ATP1A3 | c.793G>T (p.Gly265Cys) c.754G>T (p.Gly252Cys) c.664G>T (p.Gly222Cys) n.67G>T c.787G>T (p.Gly263Cys) | |
19 | g.41985157C>G | CA406053233 | ATP1A3 | c.793G>C (p.Gly265Arg) c.754G>C (p.Gly252Arg) c.664G>C (p.Gly222Arg) n.67G>C c.787G>C (p.Gly263Arg) | |
19 | g.41985157C>T | CA406053232 | ATP1A3 | c.793G>A (p.Gly265Ser) c.754G>A (p.Gly252Ser) c.664G>A (p.Gly222Ser) n.67G>A c.787G>A (p.Gly263Ser) | |
19 | g.41985158C>A | CA507695265 | ATP1A3 | c.792G>T (p.Thr264=) c.753G>T (p.Thr251=) c.663G>T (p.Thr221=) n.66G>T c.786G>T (p.Thr262=) | ClinVar gnomAD v4 |
19 | g.41985158C= | CA2336728048 | ATP1A3 | c.792G= (p.Thr264=) c.753G= (p.Thr251=) c.663G= (p.Thr221=) n.66G= c.786G= (p.Thr262=) | |
19 | g.41985158C>G | CA507695266 | ATP1A3 | c.792G>C (p.Thr264=) c.753G>C (p.Thr251=) c.663G>C (p.Thr221=) n.66G>C c.786G>C (p.Thr262=) | |
19 | g.41985158C>T | CA9467781 | ATP1A3 | c.792G>A (p.Thr264=) c.753G>A (p.Thr251=) c.663G>A (p.Thr221=) n.66G>A c.786G>A (p.Thr262=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41985159G>A | CA406053235 | ATP1A3 | c.791C>T (p.Thr264Met) c.752C>T (p.Thr251Met) c.662C>T (p.Thr221Met) n.65C>T c.785C>T (p.Thr262Met) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41985159G>C | CA406053236 | ATP1A3 | c.791C>G (p.Thr264Arg) c.752C>G (p.Thr251Arg) c.662C>G (p.Thr221Arg) n.65C>G c.785C>G (p.Thr262Arg) | ClinVar |
19 | g.41985159G= | CA2336728049 | ATP1A3 | c.791C= (p.Thr264=) c.752C= (p.Thr251=) c.662C= (p.Thr221=) n.65C= c.785C= (p.Thr262=) | |
19 | g.41985159G>T | CA406053237 | ATP1A3 | c.791C>A (p.Thr264Lys) c.752C>A (p.Thr251Lys) c.662C>A (p.Thr221Lys) n.65C>A c.785C>A (p.Thr262Lys) | COSMIC |
19 | g.41985160T>A | CA406053238 | ATP1A3 | c.790A>T (p.Thr264Ser) c.751A>T (p.Thr251Ser) c.661A>T (p.Thr221Ser) n.64A>T c.784A>T (p.Thr262Ser) | |
19 | g.41985160T>C | CA406053239 | ATP1A3 | c.790A>G (p.Thr264Ala) c.751A>G (p.Thr251Ala) c.661A>G (p.Thr221Ala) n.64A>G c.784A>G (p.Thr262Ala) | |
19 | g.41985160T>G | CA406053240 | ATP1A3 | c.790A>C (p.Thr264Pro) c.751A>C (p.Thr251Pro) c.661A>C (p.Thr221Pro) n.64A>C c.784A>C (p.Thr262Pro) | |
19 | g.41985161G>A | CA507695269 | ATP1A3 | c.789C>T (p.Ala263=) c.750C>T (p.Ala250=) c.660C>T (p.Ala220=) n.63C>T c.783C>T (p.Ala261=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985161G>C | CA507695271 | ATP1A3 | c.789C>G (p.Ala263=) c.750C>G (p.Ala250=) c.660C>G (p.Ala220=) n.63C>G c.783C>G (p.Ala261=) | |
19 | g.41985161G= | CA2336728050 | ATP1A3 | c.789C= (p.Ala263=) c.750C= (p.Ala250=) c.660C= (p.Ala220=) n.63C= c.783C= (p.Ala261=) | |
19 | g.41985161G>T | CA507695272 | ATP1A3 | c.789C>A (p.Ala263=) c.750C>A (p.Ala250=) c.660C>A (p.Ala220=) n.63C>A c.783C>A (p.Ala261=) | |
19 | g.41985162G>A | CA406053241 | ATP1A3 | c.788C>T (p.Ala263Val) c.749C>T (p.Ala250Val) c.659C>T (p.Ala220Val) n.62C>T c.782C>T (p.Ala261Val) | |
19 | g.41985162G>C | CA406053242 | ATP1A3 | c.788C>G (p.Ala263Gly) c.749C>G (p.Ala250Gly) c.659C>G (p.Ala220Gly) n.62C>G c.782C>G (p.Ala261Gly) | |
19 | g.41985162G>T | CA406053243 | ATP1A3 | c.788C>A (p.Ala263Asp) c.749C>A (p.Ala250Asp) c.659C>A (p.Ala220Asp) n.62C>A c.782C>A (p.Ala261Asp) | |
19 | g.41985163C>A | CA406053244 | ATP1A3 | c.787G>T (p.Ala263Ser) c.748G>T (p.Ala250Ser) c.658G>T (p.Ala220Ser) n.61G>T c.781G>T (p.Ala261Ser) | |
19 | g.41985163C>G | CA406053245 | ATP1A3 | c.787G>C (p.Ala263Pro) c.748G>C (p.Ala250Pro) c.658G>C (p.Ala220Pro) n.61G>C c.781G>C (p.Ala261Pro) | |
19 | g.41985163C>T | CA406053246 | ATP1A3 | c.787G>A (p.Ala263Thr) c.748G>A (p.Ala250Thr) c.658G>A (p.Ala220Thr) n.61G>A c.781G>A (p.Ala261Thr) | |
19 | g.41985164C>A | CA507695275 | ATP1A3 | c.786G>T (p.Val262=) c.747G>T (p.Val249=) c.657G>T (p.Val219=) n.60G>T c.780G>T (p.Val260=) | |
19 | g.41985164C= | CA2336728051 | ATP1A3 | c.786G= (p.Val262=) c.747G= (p.Val249=) c.657G= (p.Val219=) n.60G= c.780G= (p.Val260=) | |
19 | g.41985164C>G | CA507695279 | ATP1A3 | c.786G>C (p.Val262=) c.747G>C (p.Val249=) c.657G>C (p.Val219=) n.60G>C c.780G>C (p.Val260=) | |
19 | g.41985164C>T | CA507695278 | ATP1A3 | c.786G>A (p.Val262=) c.747G>A (p.Val249=) c.657G>A (p.Val219=) n.60G>A c.780G>A (p.Val260=) | dbSNP gnomAD v4 |
19 | g.41985165A>C | CA406053248 | ATP1A3 | c.785T>G (p.Val262Gly) c.746T>G (p.Val249Gly) c.656T>G (p.Val219Gly) n.59T>G c.779T>G (p.Val260Gly) | |
19 | g.41985165A>G | CA406053249 | ATP1A3 | c.785T>C (p.Val262Ala) c.746T>C (p.Val249Ala) c.656T>C (p.Val219Ala) n.59T>C c.779T>C (p.Val260Ala) | |
19 | g.41985165A>T | CA406053247 | ATP1A3 | c.785T>A (p.Val262Glu) c.746T>A (p.Val249Glu) c.656T>A (p.Val219Glu) n.59T>A c.779T>A (p.Val260Glu) | |
19 | g.41985166C>A | CA406053250 | ATP1A3 | c.784G>T (p.Val262Leu) c.745G>T (p.Val249Leu) c.655G>T (p.Val219Leu) n.58G>T c.778G>T (p.Val260Leu) | |
19 | g.41985166C>G | CA406053251 | ATP1A3 | c.784G>C (p.Val262Leu) c.745G>C (p.Val249Leu) c.655G>C (p.Val219Leu) n.58G>C c.778G>C (p.Val260Leu) | |
19 | g.41985166C>T | CA406053252 | ATP1A3 | c.784G>A (p.Val262Met) c.745G>A (p.Val249Met) c.655G>A (p.Val219Met) n.58G>A c.778G>A (p.Val260Met) | |
19 | g.41985167C>A | CA507695284 | ATP1A3 | c.783G>T (p.Val261=) c.744G>T (p.Val248=) c.654G>T (p.Val218=) n.57G>T c.777G>T (p.Val259=) | |
19 | g.41985167C>G | CA507695285 | ATP1A3 | c.783G>C (p.Val261=) c.744G>C (p.Val248=) c.654G>C (p.Val218=) n.57G>C c.777G>C (p.Val259=) | |
19 | g.41985167C>T | CA507695287 | ATP1A3 | c.783G>A (p.Val261=) c.744G>A (p.Val248=) c.654G>A (p.Val218=) n.57G>A c.777G>A (p.Val259=) | |
19 | g.41985168A>C | CA406053253 | ATP1A3 | c.782T>G (p.Val261Gly) c.743T>G (p.Val248Gly) c.653T>G (p.Val218Gly) n.56T>G c.776T>G (p.Val259Gly) | |
19 | g.41985168A>G | CA406053254 | ATP1A3 | c.782T>C (p.Val261Ala) c.743T>C (p.Val248Ala) c.653T>C (p.Val218Ala) n.56T>C c.776T>C (p.Val259Ala) | |
19 | g.41985168A>T | CA406053255 | ATP1A3 | c.782T>A (p.Val261Glu) c.743T>A (p.Val248Glu) c.653T>A (p.Val218Glu) n.56T>A c.776T>A (p.Val259Glu) | |
19 | g.41985169C>A | CA406053256 | ATP1A3 | c.781G>T (p.Val261Leu) c.742G>T (p.Val248Leu) c.652G>T (p.Val218Leu) n.55G>T c.775G>T (p.Val259Leu) | |
19 | g.41985169C>G | CA406053257 | ATP1A3 | c.781G>C (p.Val261Leu) c.742G>C (p.Val248Leu) c.652G>C (p.Val218Leu) n.55G>C c.775G>C (p.Val259Leu) | |
19 | g.41985169C>T | CA406053258 | ATP1A3 | c.781G>A (p.Val261Met) c.742G>A (p.Val248Met) c.652G>A (p.Val218Met) n.55G>A c.775G>A (p.Val259Met) | |
19 | g.41985170C>A | CA308597312 | ATP1A3 | c.780G>T (p.Val260=) c.741G>T (p.Val247=) c.651G>T (p.Val217=) n.54G>T c.774G>T (p.Val258=) | dbSNP |
19 | g.41985170C= | CA2336728052 | ATP1A3 | c.780G= (p.Val260=) c.741G= (p.Val247=) c.651G= (p.Val217=) n.54G= c.774G= (p.Val258=) | |
19 | g.41985170C>G | CA9467782 | ATP1A3 | c.780G>C (p.Val260=) c.741G>C (p.Val247=) c.651G>C (p.Val217=) n.54G>C c.774G>C (p.Val258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985170C>T | CA507695291 | ATP1A3 | c.780G>A (p.Val260=) c.741G>A (p.Val247=) c.651G>A (p.Val217=) n.54G>A c.774G>A (p.Val258=) | |
19 | g.41985171A>C | CA406053261 | ATP1A3 | c.779T>G (p.Val260Gly) c.740T>G (p.Val247Gly) c.650T>G (p.Val217Gly) n.53T>G c.773T>G (p.Val258Gly) | |
19 | g.41985171A>G | CA406053260 | ATP1A3 | c.779T>C (p.Val260Ala) c.740T>C (p.Val247Ala) c.650T>C (p.Val217Ala) n.53T>C c.773T>C (p.Val258Ala) | |
19 | g.41985171A>T | CA406053259 | ATP1A3 | c.779T>A (p.Val260Glu) c.740T>A (p.Val247Glu) c.650T>A (p.Val217Glu) n.53T>A c.773T>A (p.Val258Glu) | |
19 | g.41985172C>A | CA406053262 | ATP1A3 | c.778G>T (p.Val260Leu) c.739G>T (p.Val247Leu) c.649G>T (p.Val217Leu) n.52G>T c.772G>T (p.Val258Leu) | |
19 | g.41985172C= | CA2336728053 | ATP1A3 | c.778G= (p.Val260=) c.739G= (p.Val247=) c.649G= (p.Val217=) n.52G= c.772G= (p.Val258=) | |
19 | g.41985172C>G | CA406053263 | ATP1A3 | c.778G>C (p.Val260Leu) c.739G>C (p.Val247Leu) c.649G>C (p.Val217Leu) n.52G>C c.772G>C (p.Val258Leu) | |
19 | g.41985172C>T | CA9467783 | ATP1A3 | c.778G>A (p.Val260Met) c.739G>A (p.Val247Met) c.649G>A (p.Val217Met) n.52G>A c.772G>A (p.Val258Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985173G>A | CA308597325 | ATP1A3 | c.777C>T (p.Gly259=) c.738C>T (p.Gly246=) c.648C>T (p.Gly216=) n.51C>T c.771C>T (p.Gly257=) | dbSNP gnomAD v4 |
19 | g.41985173G>C | CA507695295 | ATP1A3 | c.777C>G (p.Gly259=) c.738C>G (p.Gly246=) c.648C>G (p.Gly216=) n.51C>G c.771C>G (p.Gly257=) | |
19 | g.41985173G= | CA2336728054 | ATP1A3 | c.777C= (p.Gly259=) c.738C= (p.Gly246=) c.648C= (p.Gly216=) n.51C= c.771C= (p.Gly257=) | |
19 | g.41985173G>T | CA507695297 | ATP1A3 | c.777C>A (p.Gly259=) c.738C>A (p.Gly246=) c.648C>A (p.Gly216=) n.51C>A c.771C>A (p.Gly257=) | |
19 | g.41985174C>A | CA406053264 | ATP1A3 | c.776G>T (p.Gly259Val) c.737G>T (p.Gly246Val) c.647G>T (p.Gly216Val) n.50G>T c.770G>T (p.Gly257Val) | |
19 | g.41985174C>G | CA406053265 | ATP1A3 | c.776G>C (p.Gly259Ala) c.737G>C (p.Gly246Ala) c.647G>C (p.Gly216Ala) n.50G>C c.770G>C (p.Gly257Ala) | |
19 | g.41985174C>T | CA406053266 | ATP1A3 | c.776G>A (p.Gly259Asp) c.737G>A (p.Gly246Asp) c.647G>A (p.Gly216Asp) n.50G>A c.770G>A (p.Gly257Asp) | |
19 | g.41985175C>A | CA406053267 | ATP1A3 | c.775G>T (p.Gly259Cys) c.736G>T (p.Gly246Cys) c.646G>T (p.Gly216Cys) n.49G>T c.769G>T (p.Gly257Cys) | |
19 | g.41985175C>G | CA406053268 | ATP1A3 | c.775G>C (p.Gly259Arg) c.736G>C (p.Gly246Arg) c.646G>C (p.Gly216Arg) n.49G>C c.769G>C (p.Gly257Arg) | |
19 | g.41985175C>T | CA406053269 | ATP1A3 | c.775G>A (p.Gly259Ser) c.736G>A (p.Gly246Ser) c.646G>A (p.Gly216Ser) n.49G>A c.769G>A (p.Gly257Ser) | gnomAD v4 |
19 | g.41985176C>A | CA507695301 | ATP1A3 | c.774G>T (p.Arg258=) c.735G>T (p.Arg245=) c.645G>T (p.Arg215=) n.48G>T c.768G>T (p.Arg256=) | dbSNP |
19 | g.41985176C= | CA2336728055 | ATP1A3 | c.774G= (p.Arg258=) c.735G= (p.Arg245=) c.645G= (p.Arg215=) n.48G= c.768G= (p.Arg256=) | |
19 | g.41985176C>G | CA507695302 | ATP1A3 | c.774G>C (p.Arg258=) c.735G>C (p.Arg245=) c.645G>C (p.Arg215=) n.48G>C c.768G>C (p.Arg256=) | |
19 | g.41985176C>T | CA507695303 | ATP1A3 | c.774G>A (p.Arg258=) c.735G>A (p.Arg245=) c.645G>A (p.Arg215=) n.48G>A c.768G>A (p.Arg256=) | |
19 | g.41985177C>A | CA406053270 | ATP1A3 | c.773G>T (p.Arg258Leu) c.734G>T (p.Arg245Leu) c.644G>T (p.Arg215Leu) n.47G>T c.767G>T (p.Arg256Leu) | gnomAD v4 |
19 | g.41985177C= | CA2336728056 | ATP1A3 | c.773G= (p.Arg258=) c.734G= (p.Arg245=) c.644G= (p.Arg215=) n.47G= c.767G= (p.Arg256=) | |
19 | g.41985177C>G | CA406053271 | ATP1A3 | c.773G>C (p.Arg258Pro) c.734G>C (p.Arg245Pro) c.644G>C (p.Arg215Pro) n.47G>C c.767G>C (p.Arg256Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41985177C>T | CA406053272 | ATP1A3 | c.773G>A (p.Arg258Gln) c.734G>A (p.Arg245Gln) c.644G>A (p.Arg215Gln) n.47G>A c.767G>A (p.Arg256Gln) | |
19 | g.41985178G>A | CA406053274 | ATP1A3 | c.772C>T (p.Arg258Trp) c.733C>T (p.Arg245Trp) c.643C>T (p.Arg215Trp) n.46C>T c.766C>T (p.Arg256Trp) | |
19 | g.41985178G>C | CA406053273 | ATP1A3 | c.772C>G (p.Arg258Gly) c.733C>G (p.Arg245Gly) c.643C>G (p.Arg215Gly) n.46C>G c.766C>G (p.Arg256Gly) | |
19 | g.41985178G>T | CA507695305 | ATP1A3 | c.772C>A (p.Arg258=) c.733C>A (p.Arg245=) c.643C>A (p.Arg215=) n.46C>A c.766C>A (p.Arg256=) | |
19 | g.41985178_41985179delinsGA | CA2336728057 | ATP1A3 | c.771_772delinsTC (p.Ala257=) c.732_733delinsTC (p.Ala244=) c.642_643delinsTC (p.Ala214=) n.45_46delinsTC c.765_766delinsTC (p.Ala255=) | |
19 | g.41985179del | CA882392799 | ATP1A3 | c.771del (p.Arg258GlyfsTer?) c.732del (p.Arg245GlyfsTer?) c.642del (p.Arg215GlyfsTer?) n.45del c.765del (p.Arg256GlyfsTer?) | dbSNP |
19 | g.41985179A>C | CA507695308 | ATP1A3 | c.771T>G (p.Ala257=) c.732T>G (p.Ala244=) c.642T>G (p.Ala214=) n.45T>G c.765T>G (p.Ala255=) | |
19 | g.41985179A>G | CA507695306 | ATP1A3 | c.771T>C (p.Ala257=) c.732T>C (p.Ala244=) c.642T>C (p.Ala214=) n.45T>C c.765T>C (p.Ala255=) | |
19 | g.41985179A>T | CA507695307 | ATP1A3 | c.771T>A (p.Ala257=) c.732T>A (p.Ala244=) c.642T>A (p.Ala214=) n.45T>A c.765T>A (p.Ala255=) | |
19 | g.41985180G>A | CA406053275 | ATP1A3 | c.770C>T (p.Ala257Val) c.731C>T (p.Ala244Val) c.641C>T (p.Ala214Val) n.44C>T c.764C>T (p.Ala255Val) | |
19 | g.41985180G>C | CA406053277 | ATP1A3 | c.770C>G (p.Ala257Gly) c.731C>G (p.Ala244Gly) c.641C>G (p.Ala214Gly) n.44C>G c.764C>G (p.Ala255Gly) | |
19 | g.41985180G>T | CA406053276 | ATP1A3 | c.770C>A (p.Ala257Asp) c.731C>A (p.Ala244Asp) c.641C>A (p.Ala214Asp) n.44C>A c.764C>A (p.Ala255Asp) | |
19 | g.41985181C>A | CA406053278 | ATP1A3 | c.769G>T (p.Ala257Ser) c.730G>T (p.Ala244Ser) c.640G>T (p.Ala214Ser) n.43G>T c.763G>T (p.Ala255Ser) | |
19 | g.41985181C>G | CA406053279 | ATP1A3 | c.769G>C (p.Ala257Pro) c.730G>C (p.Ala244Pro) c.640G>C (p.Ala214Pro) n.43G>C c.763G>C (p.Ala255Pro) | |
19 | g.41985181C>T | CA406053280 | ATP1A3 | c.769G>A (p.Ala257Thr) c.730G>A (p.Ala244Thr) c.640G>A (p.Ala214Thr) n.43G>A c.763G>A (p.Ala255Thr) | |
19 | g.41985182C>A | CA507695312 | ATP1A3 | c.768G>T (p.Thr256=) c.729G>T (p.Thr243=) c.639G>T (p.Thr213=) n.42G>T c.762G>T (p.Thr254=) | |
19 | g.41985182C= | CA2336728058 | ATP1A3 | c.768G= (p.Thr256=) c.729G= (p.Thr243=) c.639G= (p.Thr213=) n.42G= c.762G= (p.Thr254=) | |
19 | g.41985182C>G | CA507695313 | ATP1A3 | c.768G>C (p.Thr256=) c.729G>C (p.Thr243=) c.639G>C (p.Thr213=) n.42G>C c.762G>C (p.Thr254=) | dbSNP |
19 | g.41985182C>T | CA9467784 | ATP1A3 | c.768G>A (p.Thr256=) c.729G>A (p.Thr243=) c.639G>A (p.Thr213=) n.42G>A c.762G>A (p.Thr254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41985182_41985211del | CA2814451414 | ATP1A3 | c.764-25_768del c.725-25_729del c.635-25_639del n.38-25_42del c.758-25_762del | |
19 | g.41985183G>A | CA406053281 | ATP1A3 | c.767C>T (p.Thr256Met) c.728C>T (p.Thr243Met) c.638C>T (p.Thr213Met) n.41C>T c.761C>T (p.Thr254Met) | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.41985183G>C | CA406053282 | ATP1A3 | c.767C>G (p.Thr256Arg) c.728C>G (p.Thr243Arg) c.638C>G (p.Thr213Arg) n.41C>G c.761C>G (p.Thr254Arg) | |
19 | g.41985183G= | CA2336728059 | ATP1A3 | c.767C= (p.Thr256=) c.728C= (p.Thr243=) c.638C= (p.Thr213=) n.41C= c.761C= (p.Thr254=) | |
19 | g.41985183G>T | CA406053283 | ATP1A3 | c.767C>A (p.Thr256Lys) c.728C>A (p.Thr243Lys) c.638C>A (p.Thr213Lys) n.41C>A c.761C>A (p.Thr254Lys) | |
19 | g.41985184del | CA2585370645 | ATP1A3 | c.766del (p.Thr256ArgfsTer?) c.727del (p.Thr243ArgfsTer?) c.637del (p.Thr213ArgfsTer?) n.40del c.760del (p.Thr254ArgfsTer?) | gnomAD v4 |
19 | g.41985184T>A | CA406053284 | ATP1A3 | c.766A>T (p.Thr256Ser) c.727A>T (p.Thr243Ser) c.637A>T (p.Thr213Ser) n.40A>T c.760A>T (p.Thr254Ser) | |
19 | g.41985184T>C | CA406053285 | ATP1A3 | c.766A>G (p.Thr256Ala) c.727A>G (p.Thr243Ala) c.637A>G (p.Thr213Ala) n.40A>G c.760A>G (p.Thr254Ala) | |
19 | g.41985184T>G | CA406053286 | ATP1A3 | c.766A>C (p.Thr256Pro) c.727A>C (p.Thr243Pro) c.637A>C (p.Thr213Pro) n.40A>C c.760A>C (p.Thr254Pro) | |
19 | g.41985185G>A | CA507695316 | ATP1A3 | c.765C>T (p.Gly255=) c.726C>T (p.Gly242=) c.636C>T (p.Gly212=) n.39C>T c.759C>T (p.Gly253=) | gnomAD v4 |
19 | g.41985185G>C | CA507695319 | ATP1A3 | c.765C>G (p.Gly255=) c.726C>G (p.Gly242=) c.636C>G (p.Gly212=) n.39C>G c.759C>G (p.Gly253=) | |
19 | g.41985185G>T | CA507695318 | ATP1A3 | c.765C>A (p.Gly255=) c.726C>A (p.Gly242=) c.636C>A (p.Gly212=) n.39C>A c.759C>A (p.Gly253=) | |
19 | g.41985186C>A | CA406053287 | ATP1A3 | c.764G>T (p.Gly255Val) c.725G>T (p.Gly242Val) c.635G>T (p.Gly212Val) n.38G>T c.758G>T (p.Gly253Val) | ClinVar |
19 | g.41985186C= | CA2336728060 | ATP1A3 | c.764G= (p.Gly255=) c.725G= (p.Gly242=) c.635G= (p.Gly212=) n.38G= c.758G= (p.Gly253=) | |
19 | g.41985186C>G | CA406053288 | ATP1A3 | c.764G>C (p.Gly255Ala) c.725G>C (p.Gly242Ala) c.635G>C (p.Gly212Ala) n.38G>C c.758G>C (p.Gly253Ala) | |
19 | g.41985186C>T | CA406053289 | ATP1A3 | c.764G>A (p.Gly255Asp) c.725G>A (p.Gly242Asp) c.635G>A (p.Gly212Asp) n.38G>A c.758G>A (p.Gly253Asp) | dbSNP gnomAD v2 COSMIC |
19 | g.41985187C>A | CA406053292 | ATP1A3 | c.764-1G>T (n.764-1G>T) c.725-1G>T (n.725-1G>T) c.635-1G>T (n.635-1G>T) n.38-1G>T c.758-1G>T (n.758-1G>T) | |
19 | g.41985187C>G | CA406053290 | ATP1A3 | c.764-1G>C (n.764-1G>C) c.725-1G>C (n.725-1G>C) c.635-1G>C (n.635-1G>C) n.38-1G>C c.758-1G>C (n.758-1G>C) | |
19 | g.41985187C>T | CA406053291 | ATP1A3 | c.764-1G>A (n.764-1G>A) c.725-1G>A (n.725-1G>A) c.635-1G>A (n.635-1G>A) n.38-1G>A c.758-1G>A (n.758-1G>A) | |
19 | g.41985188T>A | CA406053293 | ATP1A3 | c.764-2A>T (n.764-2A>T) c.725-2A>T (n.725-2A>T) c.635-2A>T (n.635-2A>T) n.38-2A>T c.758-2A>T (n.758-2A>T) | |
19 | g.41985188T>C | CA406053294 | ATP1A3 | c.764-2A>G (n.764-2A>G) c.725-2A>G (n.725-2A>G) c.635-2A>G (n.635-2A>G) n.38-2A>G c.758-2A>G (n.758-2A>G) | |
19 | g.41985188T>G | CA406053295 | ATP1A3 | c.764-2A>C (n.764-2A>C) c.725-2A>C (n.725-2A>C) c.635-2A>C (n.635-2A>C) n.38-2A>C c.758-2A>C (n.758-2A>C) | |
19 | g.41985189G>A | CA633471541 | ATP1A3 | c.764-3C>T (n.764-3C>T) c.725-3C>T (n.725-3C>T) c.635-3C>T (n.635-3C>T) n.38-3C>T c.758-3C>T (n.758-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.41985189G= | CA2336728061 | ATP1A3 | c.764-3C= (n.764-3C=) c.725-3C= (n.725-3C=) c.635-3C= (n.635-3C=) n.38-3C= c.758-3C= (n.758-3C=) | |
19 | g.41985190C>T | CA2585370646 | ATP1A3 | c.764-4G>A (n.764-4G>A) c.725-4G>A (n.725-4G>A) c.635-4G>A (n.635-4G>A) n.38-4G>A c.758-4G>A (n.758-4G>A) | gnomAD v4 |
19 | g.41985191A= | CA2336728062 | ATP1A3 | c.764-5T= (n.764-5T=) c.725-5T= (n.725-5T=) c.635-5T= (n.635-5T=) n.38-5T= c.758-5T= (n.758-5T=) | |
19 | g.41985191A>G | CA633471542 | ATP1A3 | c.764-5T>C (n.764-5T>C) c.725-5T>C (n.725-5T>C) c.635-5T>C (n.635-5T>C) n.38-5T>C c.758-5T>C (n.758-5T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41985192G>A | CA9467785 | ATP1A3 | c.764-6C>T (n.764-6C>T) c.725-6C>T (n.725-6C>T) c.635-6C>T (n.635-6C>T) n.38-6C>T c.758-6C>T (n.758-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41985192G= | CA2336728063 | ATP1A3 | c.764-6C= (n.764-6C=) c.725-6C= (n.725-6C=) c.635-6C= (n.635-6C=) n.38-6C= c.758-6C= (n.758-6C=) | |
19 | g.41985193G>A | CA9467786 | ATP1A3 | c.764-7C>T (n.764-7C>T) c.725-7C>T (n.725-7C>T) c.635-7C>T (n.635-7C>T) n.38-7C>T c.758-7C>T (n.758-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985193G= | CA2336728064 | ATP1A3 | c.764-7C= (n.764-7C=) c.725-7C= (n.725-7C=) c.635-7C= (n.635-7C=) n.38-7C= c.758-7C= (n.758-7C=) | |
19 | g.41985193G>T | CA2585370647 | ATP1A3 | c.764-7C>A (n.764-7C>A) c.725-7C>A (n.725-7C>A) c.635-7C>A (n.635-7C>A) n.38-7C>A c.758-7C>A (n.758-7C>A) | gnomAD v4 |
19 | g.41985194C= | CA2336728066 | ATP1A3 | c.764-8G= (n.764-8G=) c.725-8G= (n.725-8G=) c.635-8G= (n.635-8G=) n.38-8G= c.758-8G= (n.758-8G=) | |
19 | g.41985194C>G | CA996012092 | ATP1A3 | c.764-8G>C (n.764-8G>C) c.725-8G>C (n.725-8G>C) c.635-8G>C (n.635-8G>C) n.38-8G>C c.758-8G>C (n.758-8G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41985194C>T | CA2336728065 | ATP1A3 | c.764-8G>A (n.764-8G>A) c.725-8G>A (n.725-8G>A) c.635-8G>A (n.635-8G>A) n.38-8G>A c.758-8G>A (n.758-8G>A) | dbSNP |
19 | g.41985196A>T | CA2585370648 | ATP1A3 | c.764-10T>A (n.764-10T>A) c.725-10T>A (n.725-10T>A) c.635-10T>A (n.635-10T>A) n.38-10T>A c.758-10T>A (n.758-10T>A) | gnomAD v4 |
19 | g.41985199G>A | CA2585370649 | ATP1A3 | c.764-13C>T (n.764-13C>T) c.725-13C>T (n.725-13C>T) c.635-13C>T (n.635-13C>T) n.38-13C>T c.758-13C>T (n.758-13C>T) | gnomAD v4 |
19 | g.41985200G>A | CA2585370651 | ATP1A3 | c.764-14C>T (n.764-14C>T) c.725-14C>T (n.725-14C>T) c.635-14C>T (n.635-14C>T) n.38-14C>T c.758-14C>T (n.758-14C>T) | gnomAD v4 |
19 | g.41985200G>T | CA2585370650 | ATP1A3 | c.764-14C>A (n.764-14C>A) c.725-14C>A (n.725-14C>A) c.635-14C>A (n.635-14C>A) n.38-14C>A c.758-14C>A (n.758-14C>A) | gnomAD v4 |
19 | g.41985201G>A | CA2585370652 | ATP1A3 | c.764-15C>T (n.764-15C>T) c.725-15C>T (n.725-15C>T) c.635-15C>T (n.635-15C>T) n.38-15C>T c.758-15C>T (n.758-15C>T) | ClinVar gnomAD v4 |
19 | g.41985201G= | CA2336728067 | ATP1A3 | c.764-15C= (n.764-15C=) c.725-15C= (n.725-15C=) c.635-15C= (n.635-15C=) n.38-15C= c.758-15C= (n.758-15C=) | |
19 | g.41985201G>T | CA9467787 | ATP1A3 | c.764-15C>A (n.764-15C>A) c.725-15C>A (n.725-15C>A) c.635-15C>A (n.635-15C>A) n.38-15C>A c.758-15C>A (n.758-15C>A) | dbSNP ExAC gnomAD v2 |
19 | g.41985202G>A | CA2336728069 | ATP1A3 | c.764-16C>T (n.764-16C>T) c.725-16C>T (n.725-16C>T) c.635-16C>T (n.635-16C>T) n.38-16C>T c.758-16C>T (n.758-16C>T) | ClinVar dbSNP |
19 | g.41985202G>C | CA2585370653 | ATP1A3 | c.764-16C>G (n.764-16C>G) c.725-16C>G (n.725-16C>G) c.635-16C>G (n.635-16C>G) n.38-16C>G c.758-16C>G (n.758-16C>G) | gnomAD v4 |
19 | g.41985202G= | CA2336728068 | ATP1A3 | c.764-16C= (n.764-16C=) c.725-16C= (n.725-16C=) c.635-16C= (n.635-16C=) n.38-16C= c.758-16C= (n.758-16C=) | |
19 | g.41985202G>T | CA633471543 | ATP1A3 | c.764-16C>A (n.764-16C>A) c.725-16C>A (n.725-16C>A) c.635-16C>A (n.635-16C>A) n.38-16C>A c.758-16C>A (n.758-16C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41985203T>G | CA2336728071 | ATP1A3 | c.764-17A>C (n.764-17A>C) c.725-17A>C (n.725-17A>C) c.635-17A>C (n.635-17A>C) n.38-17A>C c.758-17A>C (n.758-17A>C) | dbSNP |
19 | g.41985203T= | CA2336728070 | ATP1A3 | c.764-17A= (n.764-17A=) c.725-17A= (n.725-17A=) c.635-17A= (n.635-17A=) n.38-17A= c.758-17A= (n.758-17A=) | |
19 | g.41985205A>T | CA657436829 | ATP1A3 | c.764-19T>A (n.764-19T>A) c.725-19T>A (n.725-19T>A) c.635-19T>A (n.635-19T>A) n.38-19T>A c.758-19T>A (n.758-19T>A) | COSMIC COSMIC |
19 | g.41985206G>A | CA633471544 | ATP1A3 | c.764-20C>T (n.764-20C>T) c.725-20C>T (n.725-20C>T) c.635-20C>T (n.635-20C>T) n.38-20C>T c.758-20C>T (n.758-20C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41985206G= | CA2336728072 | ATP1A3 | c.764-20C= (n.764-20C=) c.725-20C= (n.725-20C=) c.635-20C= (n.635-20C=) n.38-20C= c.758-20C= (n.758-20C=) | |
19 | g.41985213G>A | CA2585370654 | ATP1A3 | c.764-27C>T (n.764-27C>T) c.725-27C>T (n.725-27C>T) n.1049C>T c.635-27C>T (n.635-27C>T) n.38-27C>T c.758-27C>T (n.758-27C>T) | gnomAD v4 |
19 | g.41985214T>C | CA2585370655 | ATP1A3 | c.764-28A>G (n.764-28A>G) c.725-28A>G (n.725-28A>G) n.1048A>G c.635-28A>G (n.635-28A>G) n.38-28A>G c.758-28A>G (n.758-28A>G) | gnomAD v4 |
19 | g.41985214T>G | CA2336728074 | ATP1A3 | c.764-28A>C (n.764-28A>C) c.725-28A>C (n.725-28A>C) n.1048A>C c.635-28A>C (n.635-28A>C) n.38-28A>C c.758-28A>C (n.758-28A>C) | dbSNP |
19 | g.41985214T= | CA2336728073 | ATP1A3 | c.764-28A= (n.764-28A=) c.725-28A= (n.725-28A=) n.1048A= c.635-28A= (n.635-28A=) n.38-28A= c.758-28A= (n.758-28A=) | |
19 | g.41985215G>A | CA633471545 | ATP1A3 | c.764-29C>T (n.764-29C>T) c.725-29C>T (n.725-29C>T) n.1047C>T c.635-29C>T (n.635-29C>T) n.38-29C>T c.758-29C>T (n.758-29C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41985215G= | CA2336728075 | ATP1A3 | c.764-29C= (n.764-29C=) c.725-29C= (n.725-29C=) n.1047C= c.635-29C= (n.635-29C=) n.38-29C= c.758-29C= (n.758-29C=) | |
19 | g.41985216G>A | CA882392826 | ATP1A3 | c.764-30C>T (n.764-30C>T) c.725-30C>T (n.725-30C>T) n.1046C>T c.635-30C>T (n.635-30C>T) n.38-30C>T c.758-30C>T (n.758-30C>T) | dbSNP |
19 | g.41985216G= | CA2336728076 | ATP1A3 | c.764-30C= (n.764-30C=) c.725-30C= (n.725-30C=) n.1046C= c.635-30C= (n.635-30C=) n.38-30C= c.758-30C= (n.758-30C=) | |
19 | g.41985216_41985304del | CA2814451415 | ATP1A3 | c.763+2_764-30del (n.763+2_764-30del) c.724+2_725-30del (n.724+2_725-30del) n.958_1046del c.634+2_635-30del (n.634+2_635-30del) n.37+2_38-30del c.757+2_758-30del (n.757+2_758-30del) | |
19 | g.41985217G>A | CA9467788 | ATP1A3 | c.764-31C>T (n.764-31C>T) c.725-31C>T (n.725-31C>T) n.1045C>T c.635-31C>T (n.635-31C>T) n.38-31C>T c.758-31C>T (n.758-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985217G= | CA2336728077 | ATP1A3 | c.764-31C= (n.764-31C=) c.725-31C= (n.725-31C=) n.1045C= c.635-31C= (n.635-31C=) n.38-31C= c.758-31C= (n.758-31C=) | |
19 | g.41985217G>T | CA2585370656 | ATP1A3 | c.764-31C>A (n.764-31C>A) c.725-31C>A (n.725-31C>A) n.1045C>A c.635-31C>A (n.635-31C>A) n.38-31C>A c.758-31C>A (n.758-31C>A) | gnomAD v4 |
19 | g.41985218G>A | CA9467790 | ATP1A3 | c.764-32C>T (n.764-32C>T) c.725-32C>T (n.725-32C>T) n.1044C>T c.635-32C>T (n.635-32C>T) n.38-32C>T c.758-32C>T (n.758-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985218G= | CA2336728078 | ATP1A3 | c.764-32C= (n.764-32C=) c.725-32C= (n.725-32C=) n.1044C= c.635-32C= (n.635-32C=) n.38-32C= c.758-32C= (n.758-32C=) | |
19 | g.41985218G>T | CA9467789 | ATP1A3 | c.764-32C>A (n.764-32C>A) c.725-32C>A (n.725-32C>A) n.1044C>A c.635-32C>A (n.635-32C>A) n.38-32C>A c.758-32C>A (n.758-32C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985219T>G | CA2336728080 | ATP1A3 | c.764-33A>C (n.764-33A>C) c.725-33A>C (n.725-33A>C) n.1043A>C c.635-33A>C (n.635-33A>C) n.38-33A>C c.758-33A>C (n.758-33A>C) | dbSNP |
19 | g.41985219T= | CA2336728079 | ATP1A3 | c.764-33A= (n.764-33A=) c.725-33A= (n.725-33A=) n.1043A= c.635-33A= (n.635-33A=) n.38-33A= c.758-33A= (n.758-33A=) | |
19 | g.41985221G>A | CA9467792 | ATP1A3 | c.764-35C>T (n.764-35C>T) c.725-35C>T (n.725-35C>T) n.1041C>T c.635-35C>T (n.635-35C>T) n.38-35C>T c.758-35C>T (n.758-35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985221G= | CA2336728081 | ATP1A3 | c.764-35C= (n.764-35C=) c.725-35C= (n.725-35C=) n.1041C= c.635-35C= (n.635-35C=) n.38-35C= c.758-35C= (n.758-35C=) | |
19 | g.41985221G>T | CA9467791 | ATP1A3 | c.764-35C>A (n.764-35C>A) c.725-35C>A (n.725-35C>A) n.1041C>A c.635-35C>A (n.635-35C>A) n.38-35C>A c.758-35C>A (n.758-35C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41985223T>A | CA2336728083 | ATP1A3 | c.764-37A>T (n.764-37A>T) c.725-37A>T (n.725-37A>T) n.1039A>T c.635-37A>T (n.635-37A>T) n.38-37A>T c.758-37A>T (n.758-37A>T) | dbSNP |
19 | g.41985223T= | CA2336728082 | ATP1A3 | c.764-37A= (n.764-37A=) c.725-37A= (n.725-37A=) n.1039A= c.635-37A= (n.635-37A=) n.38-37A= c.758-37A= (n.758-37A=) | |
19 | g.41985224C>A | CA2336728085 | ATP1A3 | c.764-38G>T (n.764-38G>T) c.725-38G>T (n.725-38G>T) n.1038G>T c.635-38G>T (n.635-38G>T) n.38-38G>T c.758-38G>T (n.758-38G>T) | dbSNP |
19 | g.41985224C= | CA2336728084 | ATP1A3 | c.764-38G= (n.764-38G=) c.725-38G= (n.725-38G=) n.1038G= c.635-38G= (n.635-38G=) n.38-38G= c.758-38G= (n.758-38G=) | |
19 | g.41985224dup | CA633471546 | ATP1A3 | c.764-38dup (n.764-38dup) c.725-38dup (n.725-38dup) n.1038dup c.635-38dup (n.635-38dup) n.38-38dup c.758-38dup (n.758-38dup) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41985226G>A | CA2336728088 | ATP1A3 | c.764-40C>T (n.764-40C>T) c.725-40C>T (n.725-40C>T) n.1036C>T c.635-40C>T (n.635-40C>T) n.38-40C>T c.758-40C>T (n.758-40C>T) | dbSNP |
19 | g.41985226G= | CA2336728087 | ATP1A3 | c.764-40C= (n.764-40C=) c.725-40C= (n.725-40C=) n.1036C= c.635-40C= (n.635-40C=) n.38-40C= c.758-40C= (n.758-40C=) | |
19 | g.41985226_41985229delinsGGGA | CA2336728086 | ATP1A3 | c.764-43_764-40delinsTCCC (n.764-43_764-40delinsTCCC) c.725-43_725-40delinsTCCC (n.725-43_725-40delinsTCCC) n.1033_1036delinsTCCC c.635-43_635-40delinsTCCC (n.635-43_635-40delinsTCCC) n.38-43_38-40delinsTCCC c.758-43_758-40delinsTCCC (n.758-43_758-40delinsTCCC) |