UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21564152A= | CA1158014482 | ALPL | c.584A= (p.Glu195=) n.644A= c.353A= (p.Glu118=) c.419A= (p.Glu140=) c.428A= (p.Glu143=) | |
| 1 | g.21564152A>C | CA338878156 | ALPL | c.584A>C (p.Glu195Ala) n.644A>C c.353A>C (p.Glu118Ala) c.419A>C (p.Glu140Ala) c.428A>C (p.Glu143Ala) | dbSNP |
| 1 | g.21564152A>G | CA338878158 | ALPL | c.584A>G (p.Glu195Gly) n.644A>G c.353A>G (p.Glu118Gly) c.419A>G (p.Glu140Gly) c.428A>G (p.Glu143Gly) | |
| 1 | g.21564152A>T | CA338878160 | ALPL | c.584A>T (p.Glu195Val) n.644A>T c.353A>T (p.Glu118Val) c.419A>T (p.Glu140Val) c.428A>T (p.Glu143Val) | |
| 1 | g.21564153G>A | CA416528119 | ALPL | c.585G>A (p.Glu195=) n.645G>A c.354G>A (p.Glu118=) c.420G>A (p.Glu140=) c.429G>A (p.Glu143=) | gnomAD v4 |
| 1 | g.21564153G>C | CA338878162 | ALPL | c.585G>C (p.Glu195Asp) n.645G>C c.354G>C (p.Glu118Asp) c.420G>C (p.Glu140Asp) c.429G>C (p.Glu143Asp) | |
| 1 | g.21564153G>T | CA338878163 | ALPL | c.585G>T (p.Glu195Asp) n.645G>T c.354G>T (p.Glu118Asp) c.420G>T (p.Glu140Asp) c.429G>T (p.Glu143Asp) | |
| 1 | g.21564154G>A | CA16603568 | ALPL | c.586G>A (p.Ala196Thr) n.646G>A c.355G>A (p.Ala119Thr) c.421G>A (p.Ala141Thr) c.430G>A (p.Ala144Thr) | ClinVar dbSNP |
| 1 | g.21564154G>C | CA338878168 | ALPL | c.586G>C (p.Ala196Pro) n.646G>C c.355G>C (p.Ala119Pro) c.421G>C (p.Ala141Pro) c.430G>C (p.Ala144Pro) | |
| 1 | g.21564154G= | CA1158014483 | ALPL | c.586G= (p.Ala196=) n.646G= c.355G= (p.Ala119=) c.421G= (p.Ala141=) c.430G= (p.Ala144=) | |
| 1 | g.21564154G>T | CA338878172 | ALPL | c.586G>T (p.Ala196Ser) n.646G>T c.355G>T (p.Ala119Ser) c.421G>T (p.Ala141Ser) c.430G>T (p.Ala144Ser) | |
| 1 | g.21564155C>A | CA338878174 | ALPL | c.587C>A (p.Ala196Asp) n.647C>A c.356C>A (p.Ala119Asp) c.422C>A (p.Ala141Asp) c.431C>A (p.Ala144Asp) | |
| 1 | g.21564155C= | CA1158014484 | ALPL | c.587C= (p.Ala196=) n.647C= c.356C= (p.Ala119=) c.422C= (p.Ala141=) c.431C= (p.Ala144=) | |
| 1 | g.21564155C>G | CA338878176 | ALPL | c.587C>G (p.Ala196Gly) n.647C>G c.356C>G (p.Ala119Gly) c.422C>G (p.Ala141Gly) c.431C>G (p.Ala144Gly) | dbSNP gnomAD v4 |
| 1 | g.21564155C>T | CA338878178 | ALPL | c.587C>T (p.Ala196Val) n.647C>T c.356C>T (p.Ala119Val) c.422C>T (p.Ala141Val) c.431C>T (p.Ala144Val) | |
| 1 | g.21564156C>A | CA416528132 | ALPL | c.588C>A (p.Ala196=) n.648C>A c.357C>A (p.Ala119=) c.423C>A (p.Ala141=) c.432C>A (p.Ala144=) | dbSNP |
| 1 | g.21564156C= | CA1158014485 | ALPL | c.588C= (p.Ala196=) n.648C= c.357C= (p.Ala119=) c.423C= (p.Ala141=) c.432C= (p.Ala144=) | |
| 1 | g.21564156C>G | CA416528145 | ALPL | c.588C>G (p.Ala196=) n.648C>G c.357C>G (p.Ala119=) c.423C>G (p.Ala141=) c.432C>G (p.Ala144=) | |
| 1 | g.21564156C>T | CA416528142 | ALPL | c.588C>T (p.Ala196=) n.648C>T c.357C>T (p.Ala119=) c.423C>T (p.Ala141=) c.432C>T (p.Ala144=) | |
| 1 | g.21564157T>A | CA338878183 | ALPL | c.589T>A (p.Leu197Met) n.649T>A c.358T>A (p.Leu120Met) c.424T>A (p.Leu142Met) c.433T>A (p.Leu145Met) | |
| 1 | g.21564157T>C | CA416528153 | ALPL | c.589T>C (p.Leu197=) n.649T>C c.358T>C (p.Leu120=) c.424T>C (p.Leu142=) c.433T>C (p.Leu145=) | |
| 1 | g.21564157T>G | CA338878181 | ALPL | c.589T>G (p.Leu197Val) n.649T>G c.358T>G (p.Leu120Val) c.424T>G (p.Leu142Val) c.433T>G (p.Leu145Val) | |
| 1 | g.21564158T>A | CA338878186 | ALPL | c.590T>A (p.Leu197Ter) n.650T>A c.359T>A (p.Leu120Ter) c.425T>A (p.Leu142Ter) c.434T>A (p.Leu145Ter) | |
| 1 | g.21564158T>C | CA338878188 | ALPL | c.590T>C (p.Leu197Ser) n.650T>C c.359T>C (p.Leu120Ser) c.425T>C (p.Leu142Ser) c.434T>C (p.Leu145Ser) | |
| 1 | g.21564158T>G | CA338878189 | ALPL | c.590T>G (p.Leu197Trp) n.650T>G c.359T>G (p.Leu120Trp) c.425T>G (p.Leu142Trp) c.434T>G (p.Leu145Trp) | |
| 1 | g.21564159G>A | CA416528186 | ALPL | c.591G>A (p.Leu197=) n.651G>A c.360G>A (p.Leu120=) c.426G>A (p.Leu142=) c.435G>A (p.Leu145=) | ClinVar gnomAD v4 |
| 1 | g.21564159G>C | CA338878192 | ALPL | c.591G>C (p.Leu197Phe) n.651G>C c.360G>C (p.Leu120Phe) c.426G>C (p.Leu142Phe) c.435G>C (p.Leu145Phe) | gnomAD v4 |
| 1 | g.21564159G>T | CA338878193 | ALPL | c.591G>T (p.Leu197Phe) n.651G>T c.360G>T (p.Leu120Phe) c.426G>T (p.Leu142Phe) c.435G>T (p.Leu145Phe) | |
| 1 | g.21564160A= | CA1158014486 | ALPL | c.592A= (p.Ser198=) n.652A= c.361A= (p.Ser121=) c.427A= (p.Ser143=) c.436A= (p.Ser146=) | |
| 1 | g.21564160A>C | CA338878195 | ALPL | c.592A>C (p.Ser198Arg) n.652A>C c.361A>C (p.Ser121Arg) c.427A>C (p.Ser143Arg) c.436A>C (p.Ser146Arg) | |
| 1 | g.21564160A>G | CA338878196 | ALPL | c.592A>G (p.Ser198Gly) n.652A>G c.361A>G (p.Ser121Gly) c.427A>G (p.Ser143Gly) c.436A>G (p.Ser146Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21564160A>T | CA338878202 | ALPL | c.592A>T (p.Ser198Cys) n.652A>T c.361A>T (p.Ser121Cys) c.427A>T (p.Ser143Cys) c.436A>T (p.Ser146Cys) | |
| 1 | g.21564161G>A | CA338878204 | ALPL | c.593G>A (p.Ser198Asn) n.653G>A c.362G>A (p.Ser121Asn) c.428G>A (p.Ser143Asn) c.437G>A (p.Ser146Asn) | COSMIC |
| 1 | g.21564161G>C | CA338878210 | ALPL | c.593G>C (p.Ser198Thr) n.653G>C c.362G>C (p.Ser121Thr) c.428G>C (p.Ser143Thr) c.437G>C (p.Ser146Thr) | |
| 1 | g.21564161G>T | CA338878212 | ALPL | c.593G>T (p.Ser198Ile) n.653G>T c.362G>T (p.Ser121Ile) c.428G>T (p.Ser143Ile) c.437G>T (p.Ser146Ile) | |
| 1 | g.21564162C>A | CA338878214 | ALPL | c.594C>A (p.Ser198Arg) n.654C>A c.363C>A (p.Ser121Arg) c.429C>A (p.Ser143Arg) c.438C>A (p.Ser146Arg) | |
| 1 | g.21564162C>G | CA338878216 | ALPL | c.594C>G (p.Ser198Arg) n.654C>G c.363C>G (p.Ser121Arg) c.429C>G (p.Ser143Arg) c.438C>G (p.Ser146Arg) | |
| 1 | g.21564162C>T | CA416528203 | ALPL | c.594C>T (p.Ser198=) n.654C>T c.363C>T (p.Ser121=) c.429C>T (p.Ser143=) c.438C>T (p.Ser146=) | COSMIC |
| 1 | g.21564163C>A | CA338878220 | ALPL | c.595C>A (p.Gln199Lys) n.655C>A c.364C>A (p.Gln122Lys) c.430C>A (p.Gln144Lys) c.439C>A (p.Gln147Lys) | |
| 1 | g.21564163C>G | CA338878221 | ALPL | c.595C>G (p.Gln199Glu) n.655C>G c.364C>G (p.Gln122Glu) c.430C>G (p.Gln144Glu) c.439C>G (p.Gln147Glu) | |
| 1 | g.21564163C>T | CA338878218 | ALPL | c.595C>T (p.Gln199Ter) n.655C>T c.364C>T (p.Gln122Ter) c.430C>T (p.Gln144Ter) c.439C>T (p.Gln147Ter) | |
| 1 | g.21564164A>C | CA338878223 | ALPL | c.596A>C (p.Gln199Pro) n.656A>C c.365A>C (p.Gln122Pro) c.431A>C (p.Gln144Pro) c.440A>C (p.Gln147Pro) | |
| 1 | g.21564164A>G | CA338878228 | ALPL | c.596A>G (p.Gln199Arg) n.656A>G c.365A>G (p.Gln122Arg) c.431A>G (p.Gln144Arg) c.440A>G (p.Gln147Arg) | |
| 1 | g.21564164A>T | CA338878229 | ALPL | c.596A>T (p.Gln199Leu) n.656A>T c.365A>T (p.Gln122Leu) c.431A>T (p.Gln144Leu) c.440A>T (p.Gln147Leu) | |
| 1 | g.21564165G>A | CA416528223 | ALPL | c.597G>A (p.Gln199=) n.657G>A c.366G>A (p.Gln122=) c.432G>A (p.Gln144=) c.441G>A (p.Gln147=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21564165G>C | CA338878232 | ALPL | c.597G>C (p.Gln199His) n.657G>C c.366G>C (p.Gln122His) c.432G>C (p.Gln144His) c.441G>C (p.Gln147His) | |
| 1 | g.21564165G>T | CA338878234 | ALPL | c.597G>T (p.Gln199His) n.657G>T c.366G>T (p.Gln122His) c.432G>T (p.Gln144His) c.441G>T (p.Gln147His) | |
| 1 | g.21564166G>A | CA338878240 | ALPL | c.598G>A (p.Gly200Ser) n.658G>A c.367G>A (p.Gly123Ser) c.433G>A (p.Gly145Ser) c.442G>A (p.Gly148Ser) | ClinVar dbSNP |
| 1 | g.21564166G>C | CA338878238 | ALPL | c.598G>C (p.Gly200Arg) n.658G>C c.367G>C (p.Gly123Arg) c.433G>C (p.Gly145Arg) c.442G>C (p.Gly148Arg) | |
| 1 | g.21564166G= | CA1158014487 | ALPL | c.598G= (p.Gly200=) n.658G= c.367G= (p.Gly123=) c.433G= (p.Gly145=) c.442G= (p.Gly148=) | |
| 1 | g.21564166G>T | CA338878239 | ALPL | c.598G>T (p.Gly200Cys) n.658G>T c.367G>T (p.Gly123Cys) c.433G>T (p.Gly145Cys) c.442G>T (p.Gly148Cys) | ClinVar |
| 1 | g.21564167G>A | CA338878242 | ALPL | c.599G>A (p.Gly200Asp) n.659G>A c.368G>A (p.Gly123Asp) c.434G>A (p.Gly145Asp) c.443G>A (p.Gly148Asp) | gnomAD v4 |
| 1 | g.21564167G>C | CA338878247 | ALPL | c.599G>C (p.Gly200Ala) n.659G>C c.368G>C (p.Gly123Ala) c.434G>C (p.Gly145Ala) c.443G>C (p.Gly148Ala) | |
| 1 | g.21564167G>T | CA338878249 | ALPL | c.599G>T (p.Gly200Val) n.659G>T c.368G>T (p.Gly123Val) c.434G>T (p.Gly145Val) c.443G>T (p.Gly148Val) | |
| 1 | g.21564168C>A | CA416528237 | ALPL | c.600C>A (p.Gly200=) n.660C>A c.369C>A (p.Gly123=) c.435C>A (p.Gly145=) c.444C>A (p.Gly148=) | |
| 1 | g.21564168C>G | CA416528241 | ALPL | c.600C>G (p.Gly200=) n.660C>G c.369C>G (p.Gly123=) c.435C>G (p.Gly145=) c.444C>G (p.Gly148=) | |
| 1 | g.21564168C>T | CA416528238 | ALPL | c.600C>T (p.Gly200=) n.660C>T c.369C>T (p.Gly123=) c.435C>T (p.Gly145=) c.444C>T (p.Gly148=) | |
| 1 | g.21564169T>A | CA338878251 | ALPL | c.601T>A (p.Cys201Ser) n.661T>A c.370T>A (p.Cys124Ser) c.436T>A (p.Cys146Ser) c.445T>A (p.Cys149Ser) | |
| 1 | g.21564169T>C | CA338878253 | ALPL | c.601T>C (p.Cys201Arg) n.661T>C c.370T>C (p.Cys124Arg) c.436T>C (p.Cys146Arg) c.445T>C (p.Cys149Arg) | ClinVar dbSNP |
| 1 | g.21564169T>G | CA338878255 | ALPL | c.601T>G (p.Cys201Gly) n.661T>G c.370T>G (p.Cys124Gly) c.436T>G (p.Cys146Gly) c.445T>G (p.Cys149Gly) | |
| 1 | g.21564170G>A | CA338878259 | ALPL | c.602G>A (p.Cys201Tyr) n.662G>A c.371G>A (p.Cys124Tyr) c.437G>A (p.Cys146Tyr) c.446G>A (p.Cys149Tyr) | ClinVar |
| 1 | g.21564170G>C | CA338878260 | ALPL | c.602G>C (p.Cys201Ser) n.662G>C c.371G>C (p.Cys124Ser) c.437G>C (p.Cys146Ser) c.446G>C (p.Cys149Ser) | |
| 1 | g.21564170G>T | CA338878258 | ALPL | c.602G>T (p.Cys201Phe) n.662G>T c.371G>T (p.Cys124Phe) c.437G>T (p.Cys146Phe) c.446G>T (p.Cys149Phe) | |
| 1 | g.21564171T>A | CA338878261 | ALPL | c.603T>A (p.Cys201Ter) n.663T>A c.372T>A (p.Cys124Ter) c.438T>A (p.Cys146Ter) c.447T>A (p.Cys149Ter) | gnomAD v4 |
| 1 | g.21564171T>C | CA416528256 | ALPL | c.603T>C (p.Cys201=) n.663T>C c.372T>C (p.Cys124=) c.438T>C (p.Cys146=) c.447T>C (p.Cys149=) | dbSNP |
| 1 | g.21564171T>G | CA338878263 | ALPL | c.603T>G (p.Cys201Trp) n.663T>G c.372T>G (p.Cys124Trp) c.438T>G (p.Cys146Trp) c.447T>G (p.Cys149Trp) | |
| 1 | g.21564172A>C | CA338878264 | ALPL | c.604A>C (p.Lys202Gln) n.664A>C c.373A>C (p.Lys125Gln) c.439A>C (p.Lys147Gln) c.448A>C (p.Lys150Gln) | |
| 1 | g.21564172A>G | CA338878265 | ALPL | c.604A>G (p.Lys202Glu) n.664A>G c.373A>G (p.Lys125Glu) c.439A>G (p.Lys147Glu) c.448A>G (p.Lys150Glu) | ClinVar |
| 1 | g.21564172A>T | CA338878266 | ALPL | c.604A>T (p.Lys202Ter) n.664A>T c.373A>T (p.Lys125Ter) c.439A>T (p.Lys147Ter) c.448A>T (p.Lys150Ter) | |
| 1 | g.21564173A>C | CA338878269 | ALPL | c.605A>C (p.Lys202Thr) n.665A>C c.374A>C (p.Lys125Thr) c.440A>C (p.Lys147Thr) c.449A>C (p.Lys150Thr) | |
| 1 | g.21564173A>G | CA338878268 | ALPL | c.605A>G (p.Lys202Arg) n.665A>G c.374A>G (p.Lys125Arg) c.440A>G (p.Lys147Arg) c.449A>G (p.Lys150Arg) | gnomAD v4 |
| 1 | g.21564173A>T | CA338878267 | ALPL | c.605A>T (p.Lys202Met) n.665A>T c.374A>T (p.Lys125Met) c.440A>T (p.Lys147Met) c.449A>T (p.Lys150Met) | |
| 1 | g.21564174G>A | CA19060349 | ALPL | c.606G>A (p.Lys202=) n.666G>A c.375G>A (p.Lys125=) c.441G>A (p.Lys147=) c.450G>A (p.Lys150=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.21564174G>C | CA338878272 | ALPL | c.606G>C (p.Lys202Asn) n.666G>C c.375G>C (p.Lys125Asn) c.441G>C (p.Lys147Asn) c.450G>C (p.Lys150Asn) | |
| 1 | g.21564174G= | CA1143427052 | ALPL | c.606G= (p.Lys202=) n.666G= c.375G= (p.Lys125=) c.441G= (p.Lys147=) c.450G= (p.Lys150=) | |
| 1 | g.21564174G>T | CA338878275 | ALPL | c.606G>T (p.Lys202Asn) n.666G>T c.375G>T (p.Lys125Asn) c.441G>T (p.Lys147Asn) c.450G>T (p.Lys150Asn) | |
| 1 | g.21564175G>A | CA19060354 | ALPL | c.607G>A (p.Asp203Asn) n.667G>A c.376G>A (p.Asp126Asn) c.442G>A (p.Asp148Asn) c.451G>A (p.Asp151Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564175G>C | CA338878279 | ALPL | c.607G>C (p.Asp203His) n.667G>C c.376G>C (p.Asp126His) c.442G>C (p.Asp148His) c.451G>C (p.Asp151His) | |
| 1 | g.21564175G= | CA1158014488 | ALPL | c.607G= (p.Asp203=) n.667G= c.376G= (p.Asp126=) c.442G= (p.Asp148=) c.451G= (p.Asp151=) | |
| 1 | g.21564175G>T | CA338878282 | ALPL | c.607G>T (p.Asp203Tyr) n.667G>T c.376G>T (p.Asp126Tyr) c.442G>T (p.Asp148Tyr) c.451G>T (p.Asp151Tyr) | gnomAD v4 |
| 1 | g.21564176A>C | CA338878288 | ALPL | c.608A>C (p.Asp203Ala) n.668A>C c.377A>C (p.Asp126Ala) c.443A>C (p.Asp148Ala) c.452A>C (p.Asp151Ala) | |
| 1 | g.21564176A>G | CA338878284 | ALPL | c.608A>G (p.Asp203Gly) n.668A>G c.377A>G (p.Asp126Gly) c.443A>G (p.Asp148Gly) c.452A>G (p.Asp151Gly) | |
| 1 | g.21564176A>T | CA338878286 | ALPL | c.608A>T (p.Asp203Val) n.668A>T c.377A>T (p.Asp126Val) c.443A>T (p.Asp148Val) c.452A>T (p.Asp151Val) | gnomAD v4 |
| 1 | g.21564176_21564177delinsTT | CA2739272370 | ALPL | c.608_609delinsTT (p.Asp203Val) n.668_669delinsTT c.377_378delinsTT (p.Asp126Val) c.443_444delinsTT (p.Asp148Val) c.452_453delinsTT (p.Asp151Val) | ClinVar |
| 1 | g.21564177C>A | CA338878291 | ALPL | c.609C>A (p.Asp203Glu) n.669C>A c.378C>A (p.Asp126Glu) c.444C>A (p.Asp148Glu) c.453C>A (p.Asp151Glu) | |
| 1 | g.21564177C>G | CA338878293 | ALPL | c.609C>G (p.Asp203Glu) n.669C>G c.378C>G (p.Asp126Glu) c.444C>G (p.Asp148Glu) c.453C>G (p.Asp151Glu) | |
| 1 | g.21564177C>T | CA416528293 | ALPL | c.609C>T (p.Asp203=) n.669C>T c.378C>T (p.Asp126=) c.444C>T (p.Asp148=) c.453C>T (p.Asp151=) | |
| 1 | g.21564178A= | CA1144002196 | ALPL | c.610A= (p.Ile204=) n.670A= c.379A= (p.Ile127=) c.445A= (p.Ile149=) c.454A= (p.Ile152=) | |
| 1 | g.21564178A>C | CA338878296 | ALPL | c.610A>C (p.Ile204Leu) n.670A>C c.379A>C (p.Ile127Leu) c.445A>C (p.Ile149Leu) c.454A>C (p.Ile152Leu) | |
| 1 | g.21564178A>G | CA19060357 | ALPL | c.610A>G (p.Ile204Val) n.670A>G c.379A>G (p.Ile127Val) c.445A>G (p.Ile149Val) c.454A>G (p.Ile152Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564178A>T | CA666537 | ALPL | c.610A>T (p.Ile204Phe) n.670A>T c.379A>T (p.Ile127Phe) c.445A>T (p.Ile149Phe) c.454A>T (p.Ile152Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21564179T>A | CA338878301 | ALPL | c.611T>A (p.Ile204Asn) n.671T>A c.380T>A (p.Ile127Asn) c.446T>A (p.Ile149Asn) c.455T>A (p.Ile152Asn) | |
| 1 | g.21564179T>C | CA338878302 | ALPL | c.611T>C (p.Ile204Thr) n.671T>C c.380T>C (p.Ile127Thr) c.446T>C (p.Ile149Thr) c.455T>C (p.Ile152Thr) | |
| 1 | g.21564179T>G | CA338878305 | ALPL | c.611T>G (p.Ile204Ser) n.671T>G c.380T>G (p.Ile127Ser) c.446T>G (p.Ile149Ser) c.455T>G (p.Ile152Ser) | |
| 1 | g.21564180C>A | CA416528311 | ALPL | c.612C>A (p.Ile204=) n.672C>A c.381C>A (p.Ile127=) c.447C>A (p.Ile149=) c.456C>A (p.Ile152=) | |
| 1 | g.21564180C= | CA1141804916 | ALPL | c.612C= (p.Ile204=) n.672C= c.381C= (p.Ile127=) c.447C= (p.Ile149=) c.456C= (p.Ile152=) | |
| 1 | g.21564180C>G | CA338878306 | ALPL | c.612C>G (p.Ile204Met) n.672C>G c.381C>G (p.Ile127Met) c.447C>G (p.Ile149Met) c.456C>G (p.Ile152Met) | |
| 1 | g.21564180C>T | CA666538 | ALPL | c.612C>T (p.Ile204=) n.672C>T c.381C>T (p.Ile127=) c.447C>T (p.Ile149=) c.456C>T (p.Ile152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564181G>A | CA666539 | ALPL | c.613G>A (p.Ala205Thr) n.673G>A c.382G>A (p.Ala128Thr) c.448G>A (p.Ala150Thr) c.457G>A (p.Ala153Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564181G>C | CA338878310 | ALPL | c.613G>C (p.Ala205Pro) n.673G>C c.382G>C (p.Ala128Pro) c.448G>C (p.Ala150Pro) c.457G>C (p.Ala153Pro) | gnomAD v4 |
| 1 | g.21564181G= | CA1158014489 | ALPL | c.613G= (p.Ala205=) n.673G= c.382G= (p.Ala128=) c.448G= (p.Ala150=) c.457G= (p.Ala153=) | |
| 1 | g.21564181G>T | CA338878311 | ALPL | c.613G>T (p.Ala205Ser) n.673G>T c.382G>T (p.Ala128Ser) c.448G>T (p.Ala150Ser) c.457G>T (p.Ala153Ser) | |
| 1 | g.21564182C>A | CA338878316 | ALPL | c.614C>A (p.Ala205Asp) n.674C>A c.383C>A (p.Ala128Asp) c.449C>A (p.Ala150Asp) c.458C>A (p.Ala153Asp) | |
| 1 | g.21564182C>G | CA338878313 | ALPL | c.614C>G (p.Ala205Gly) n.674C>G c.383C>G (p.Ala128Gly) c.449C>G (p.Ala150Gly) c.458C>G (p.Ala153Gly) | |
| 1 | g.21564182C>T | CA338878314 | ALPL | c.614C>T (p.Ala205Val) n.674C>T c.383C>T (p.Ala128Val) c.449C>T (p.Ala150Val) c.458C>T (p.Ala153Val) | |
| 1 | g.21564183C>A | CA416528339 | ALPL | c.615C>A (p.Ala205=) n.675C>A c.384C>A (p.Ala128=) c.450C>A (p.Ala150=) c.459C>A (p.Ala153=) | |
| 1 | g.21564183C= | CA1158014490 | ALPL | c.615C= (p.Ala205=) n.675C= c.384C= (p.Ala128=) c.450C= (p.Ala150=) c.459C= (p.Ala153=) | |
| 1 | g.21564183C>G | CA416528334 | ALPL | c.615C>G (p.Ala205=) n.675C>G c.384C>G (p.Ala128=) c.450C>G (p.Ala150=) c.459C>G (p.Ala153=) | |
| 1 | g.21564183C>T | CA666540 | ALPL | c.615C>T (p.Ala205=) n.675C>T c.384C>T (p.Ala128=) c.450C>T (p.Ala150=) c.459C>T (p.Ala153=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21564184T>A | CA338878319 | ALPL | c.616T>A (p.Tyr206Asn) n.676T>A c.385T>A (p.Tyr129Asn) c.451T>A (p.Tyr151Asn) c.460T>A (p.Tyr154Asn) | |
| 1 | g.21564184T>C | CA338878321 | ALPL | c.616T>C (p.Tyr206His) n.676T>C c.385T>C (p.Tyr129His) c.451T>C (p.Tyr151His) c.460T>C (p.Tyr154His) | |
| 1 | g.21564184T>G | CA338878322 | ALPL | c.616T>G (p.Tyr206Asp) n.676T>G c.385T>G (p.Tyr129Asp) c.451T>G (p.Tyr151Asp) c.460T>G (p.Tyr154Asp) | |
| 1 | g.21564185A= | CA1158014491 | ALPL | c.617A= (p.Tyr206=) n.677A= c.386A= (p.Tyr129=) c.452A= (p.Tyr151=) c.461A= (p.Tyr154=) | |
| 1 | g.21564185A>C | CA666541 | ALPL | c.617A>C (p.Tyr206Ser) n.677A>C c.386A>C (p.Tyr129Ser) c.452A>C (p.Tyr151Ser) c.461A>C (p.Tyr154Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21564185A>G | CA338878324 | ALPL | c.617A>G (p.Tyr206Cys) n.677A>G c.386A>G (p.Tyr129Cys) c.452A>G (p.Tyr151Cys) c.461A>G (p.Tyr154Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21564185A>T | CA338878326 | ALPL | c.617A>T (p.Tyr206Phe) n.677A>T c.386A>T (p.Tyr129Phe) c.452A>T (p.Tyr151Phe) c.461A>T (p.Tyr154Phe) | |
| 1 | g.21564186C>A | CA338878328 | ALPL | c.618C>A (p.Tyr206Ter) n.678C>A c.387C>A (p.Tyr129Ter) c.453C>A (p.Tyr151Ter) c.462C>A (p.Tyr154Ter) | |
| 1 | g.21564186C= | CA1158014492 | ALPL | c.618C= (p.Tyr206=) n.678C= c.387C= (p.Tyr129=) c.453C= (p.Tyr151=) c.462C= (p.Tyr154=) | |
| 1 | g.21564186C>G | CA338878330 | ALPL | c.618C>G (p.Tyr206Ter) n.678C>G c.387C>G (p.Tyr129Ter) c.453C>G (p.Tyr151Ter) c.462C>G (p.Tyr154Ter) | |
| 1 | g.21564186C>T | CA416528353 | ALPL | c.618C>T (p.Tyr206=) n.678C>T c.387C>T (p.Tyr129=) c.453C>T (p.Tyr151=) c.462C>T (p.Tyr154=) | |
| 1 | g.21564186_21564187insA | CA916126486 | ALPL | c.618_619insA (p.Gln207ThrfsTer5) n.678_679insA c.387_388insA (p.Gln130ThrfsTer5) c.453_454insA (p.Gln152ThrfsTer5) c.462_463insA (p.Gln155ThrfsTer5) | dbSNP |
| 1 | g.21564187C>A | CA338878331 | ALPL | c.619C>A (p.Gln207Lys) n.679C>A c.388C>A (p.Gln130Lys) c.454C>A (p.Gln152Lys) c.463C>A (p.Gln155Lys) | |
| 1 | g.21564187C>G | CA338878332 | ALPL | c.619C>G (p.Gln207Glu) n.679C>G c.388C>G (p.Gln130Glu) c.454C>G (p.Gln152Glu) c.463C>G (p.Gln155Glu) | |
| 1 | g.21564187C>T | CA338878335 | ALPL | c.619C>T (p.Gln207Ter) n.679C>T c.388C>T (p.Gln130Ter) c.454C>T (p.Gln152Ter) c.463C>T (p.Gln155Ter) | gnomAD v4 |
| 1 | g.21564188A= | CA1141580640 | ALPL | c.620A= (p.Gln207=) n.680A= c.389A= (p.Gln130=) c.455A= (p.Gln152=) c.464A= (p.Gln155=) | |
| 1 | g.21564188A>C | CA256923 | ALPL | c.620A>C (p.Gln207Pro) n.680A>C c.389A>C (p.Gln130Pro) c.455A>C (p.Gln152Pro) c.464A>C (p.Gln155Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21564188A>G | CA338878337 | ALPL | c.620A>G (p.Gln207Arg) n.680A>G c.389A>G (p.Gln130Arg) c.455A>G (p.Gln152Arg) c.464A>G (p.Gln155Arg) | gnomAD v4 |
| 1 | g.21564188A>T | CA338878342 | ALPL | c.620A>T (p.Gln207Leu) n.680A>T c.389A>T (p.Gln130Leu) c.455A>T (p.Gln152Leu) c.464A>T (p.Gln155Leu) | |
| 1 | g.21564189G>A | CA416528373 | ALPL | c.621G>A (p.Gln207=) n.681G>A c.390G>A (p.Gln130=) c.456G>A (p.Gln152=) c.465G>A (p.Gln155=) | |
| 1 | g.21564189G>C | CA338878344 | ALPL | c.621G>C (p.Gln207His) n.681G>C c.390G>C (p.Gln130His) c.456G>C (p.Gln152His) c.465G>C (p.Gln155His) | |
| 1 | g.21564189G>T | CA338878345 | ALPL | c.621G>T (p.Gln207His) n.681G>T c.390G>T (p.Gln130His) c.456G>T (p.Gln152His) c.465G>T (p.Gln155His) | |
| 1 | g.21564190C>A | CA338878348 | ALPL | c.622C>A (p.Leu208Ile) n.682C>A c.391C>A (p.Leu131Ile) c.457C>A (p.Leu153Ile) c.466C>A (p.Leu156Ile) | |
| 1 | g.21564190C>G | CA338878349 | ALPL | c.622C>G (p.Leu208Val) n.682C>G c.391C>G (p.Leu131Val) c.457C>G (p.Leu153Val) c.466C>G (p.Leu156Val) | |
| 1 | g.21564190C>T | CA338878351 | ALPL | c.622C>T (p.Leu208Phe) n.682C>T c.391C>T (p.Leu131Phe) c.457C>T (p.Leu153Phe) c.466C>T (p.Leu156Phe) | gnomAD v4 |
| 1 | g.21564191T>A | CA338878352 | ALPL | c.623T>A (p.Leu208His) n.683T>A c.392T>A (p.Leu131His) c.458T>A (p.Leu153His) c.467T>A (p.Leu156His) | |
| 1 | g.21564191T>C | CA338878353 | ALPL | c.623T>C (p.Leu208Pro) n.683T>C c.392T>C (p.Leu131Pro) c.458T>C (p.Leu153Pro) c.467T>C (p.Leu156Pro) | |
| 1 | g.21564191T>G | CA338878355 | ALPL | c.623T>G (p.Leu208Arg) n.683T>G c.392T>G (p.Leu131Arg) c.458T>G (p.Leu153Arg) c.467T>G (p.Leu156Arg) | |
| 1 | g.21564192C>A | CA416528392 | ALPL | c.624C>A (p.Leu208=) n.684C>A c.393C>A (p.Leu131=) c.459C>A (p.Leu153=) c.468C>A (p.Leu156=) | ClinVar dbSNP |
| 1 | g.21564192C>G | CA416528394 | ALPL | c.624C>G (p.Leu208=) n.684C>G c.393C>G (p.Leu131=) c.459C>G (p.Leu153=) c.468C>G (p.Leu156=) | |
| 1 | g.21564192C>T | CA416528389 | ALPL | c.624C>T (p.Leu208=) n.684C>T c.393C>T (p.Leu131=) c.459C>T (p.Leu153=) c.468C>T (p.Leu156=) | |
| 1 | g.21564193A= | CA1158014493 | ALPL | c.625A= (p.Met209=) n.685A= c.394A= (p.Met132=) c.460A= (p.Met154=) c.469A= (p.Met157=) | |
| 1 | g.21564193A>C | CA338878357 | ALPL | c.625A>C (p.Met209Leu) n.685A>C c.394A>C (p.Met132Leu) c.460A>C (p.Met154Leu) c.469A>C (p.Met157Leu) | |
| 1 | g.21564193A>G | CA338878359 | ALPL | c.625A>G (p.Met209Val) n.685A>G c.394A>G (p.Met132Val) c.460A>G (p.Met154Val) c.469A>G (p.Met157Val) | |
| 1 | g.21564193A>T | CA338878360 | ALPL | c.625A>T (p.Met209Leu) n.685A>T c.394A>T (p.Met132Leu) c.460A>T (p.Met154Leu) c.469A>T (p.Met157Leu) | ClinVar dbSNP |
| 1 | g.21564194T>A | CA338878362 | ALPL | c.626T>A (p.Met209Lys) n.686T>A c.395T>A (p.Met132Lys) c.461T>A (p.Met154Lys) c.470T>A (p.Met157Lys) | |
| 1 | g.21564194T>C | CA338878363 | ALPL | c.626T>C (p.Met209Thr) n.686T>C c.395T>C (p.Met132Thr) c.461T>C (p.Met154Thr) c.470T>C (p.Met157Thr) | gnomAD v4 |
| 1 | g.21564194T>G | CA338878365 | ALPL | c.626T>G (p.Met209Arg) n.686T>G c.395T>G (p.Met132Arg) c.461T>G (p.Met154Arg) c.470T>G (p.Met157Arg) | |
| 1 | g.21564195G>A | CA338878366 | ALPL | c.627G>A (p.Met209Ile) n.687G>A c.396G>A (p.Met132Ile) c.462G>A (p.Met154Ile) c.471G>A (p.Met157Ile) | |
| 1 | g.21564195G>C | CA338878370 | ALPL | c.627G>C (p.Met209Ile) n.687G>C c.396G>C (p.Met132Ile) c.462G>C (p.Met154Ile) c.471G>C (p.Met157Ile) | |
| 1 | g.21564195G>T | CA338878368 | ALPL | c.627G>T (p.Met209Ile) n.687G>T c.396G>T (p.Met132Ile) c.462G>T (p.Met154Ile) c.471G>T (p.Met157Ile) | |
| 1 | g.21564196C>A | CA338878375 | ALPL | c.628C>A (p.His210Asn) n.688C>A c.397C>A (p.His133Asn) c.463C>A (p.His155Asn) c.472C>A (p.His158Asn) | gnomAD v4 |
| 1 | g.21564196C>G | CA338878377 | ALPL | c.628C>G (p.His210Asp) n.688C>G c.397C>G (p.His133Asp) c.463C>G (p.His155Asp) c.472C>G (p.His158Asp) | |
| 1 | g.21564196C>T | CA338878379 | ALPL | c.628C>T (p.His210Tyr) n.688C>T c.397C>T (p.His133Tyr) c.463C>T (p.His155Tyr) c.472C>T (p.His158Tyr) | |
| 1 | g.21564197A= | CA1148717498 | ALPL | c.629A= (p.His210=) n.689A= c.398A= (p.His133=) c.464A= (p.His155=) c.473A= (p.His158=) | |
| 1 | g.21564197A>C | CA338878380 | ALPL | c.629A>C (p.His210Pro) n.689A>C c.398A>C (p.His133Pro) c.464A>C (p.His155Pro) c.473A>C (p.His158Pro) | |
| 1 | g.21564197A>G | CA666542 | ALPL | c.629A>G (p.His210Arg) n.689A>G c.398A>G (p.His133Arg) c.464A>G (p.His155Arg) c.473A>G (p.His158Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21564197A>T | CA338878383 | ALPL | c.629A>T (p.His210Leu) n.689A>T c.398A>T (p.His133Leu) c.464A>T (p.His155Leu) c.473A>T (p.His158Leu) | |
| 1 | g.21564198T>A | CA338878385 | ALPL | c.630T>A (p.His210Gln) n.690T>A c.399T>A (p.His133Gln) c.465T>A (p.His155Gln) c.474T>A (p.His158Gln) | |
| 1 | g.21564198T>C | CA416528426 | ALPL | c.630T>C (p.His210=) n.690T>C c.399T>C (p.His133=) c.465T>C (p.His155=) c.474T>C (p.His158=) | |
| 1 | g.21564198T>G | CA338878387 | ALPL | c.630T>G (p.His210Gln) n.690T>G c.399T>G (p.His133Gln) c.465T>G (p.His155Gln) c.474T>G (p.His158Gln) | |
| 1 | g.21564199A>C | CA338878388 | ALPL | c.631A>C (p.Asn211His) n.691A>C c.400A>C (p.Asn134His) c.466A>C (p.Asn156His) c.475A>C (p.Asn159His) | |
| 1 | g.21564199A>G | CA338878389 | ALPL | c.631A>G (p.Asn211Asp) n.691A>G c.400A>G (p.Asn134Asp) c.466A>G (p.Asn156Asp) c.475A>G (p.Asn159Asp) | |
| 1 | g.21564199A>T | CA338878391 | ALPL | c.631A>T (p.Asn211Tyr) n.691A>T c.400A>T (p.Asn134Tyr) c.466A>T (p.Asn156Tyr) c.475A>T (p.Asn159Tyr) | |
| 1 | g.21564200A>C | CA338878393 | ALPL | c.632A>C (p.Asn211Thr) n.692A>C c.401A>C (p.Asn134Thr) c.467A>C (p.Asn156Thr) c.476A>C (p.Asn159Thr) | |
| 1 | g.21564200A>G | CA338878395 | ALPL | c.632A>G (p.Asn211Ser) n.692A>G c.401A>G (p.Asn134Ser) c.467A>G (p.Asn156Ser) c.476A>G (p.Asn159Ser) | gnomAD v4 |
| 1 | g.21564200A>T | CA338878396 | ALPL | c.632A>T (p.Asn211Ile) n.692A>T c.401A>T (p.Asn134Ile) c.467A>T (p.Asn156Ile) c.476A>T (p.Asn159Ile) | |
| 1 | g.21564201C>A | CA338878398 | ALPL | c.633C>A (p.Asn211Lys) n.693C>A c.402C>A (p.Asn134Lys) c.468C>A (p.Asn156Lys) c.477C>A (p.Asn159Lys) | |
| 1 | g.21564201C>G | CA338878397 | ALPL | c.633C>G (p.Asn211Lys) n.693C>G c.402C>G (p.Asn134Lys) c.468C>G (p.Asn156Lys) c.477C>G (p.Asn159Lys) | |
| 1 | g.21564201C>T | CA416528445 | ALPL | c.633C>T (p.Asn211=) n.693C>T c.402C>T (p.Asn134=) c.468C>T (p.Asn156=) c.477C>T (p.Asn159=) | dbSNP gnomAD v4 |
| 1 | g.21564202A>C | CA338878400 | ALPL | c.634A>C (p.Ile212Leu) n.694A>C c.403A>C (p.Ile135Leu) c.469A>C (p.Ile157Leu) c.478A>C (p.Ile160Leu) | |
| 1 | g.21564202A>G | CA338878401 | ALPL | c.634A>G (p.Ile212Val) n.694A>G c.403A>G (p.Ile135Val) c.469A>G (p.Ile157Val) c.478A>G (p.Ile160Val) | |
| 1 | g.21564202A>T | CA338878402 | ALPL | c.634A>T (p.Ile212Phe) n.694A>T c.403A>T (p.Ile135Phe) c.469A>T (p.Ile157Phe) c.478A>T (p.Ile160Phe) | |
| 1 | g.21564203T>A | CA338878403 | ALPL | c.635T>A (p.Ile212Asn) n.695T>A c.404T>A (p.Ile135Asn) c.470T>A (p.Ile157Asn) c.479T>A (p.Ile160Asn) | gnomAD v4 |
| 1 | g.21564203T>C | CA338878405 | ALPL | c.635T>C (p.Ile212Thr) n.695T>C c.404T>C (p.Ile135Thr) c.470T>C (p.Ile157Thr) c.479T>C (p.Ile160Thr) | |
| 1 | g.21564203T>G | CA338878406 | ALPL | c.635T>G (p.Ile212Ser) n.695T>G c.404T>G (p.Ile135Ser) c.470T>G (p.Ile157Ser) c.479T>G (p.Ile160Ser) | |
| 1 | g.21564204C>A | CA416528466 | ALPL | c.636C>A (p.Ile212=) n.696C>A c.405C>A (p.Ile135=) c.471C>A (p.Ile157=) c.480C>A (p.Ile160=) | |
| 1 | g.21564204C= | CA1158014494 | ALPL | c.636C= (p.Ile212=) n.696C= c.405C= (p.Ile135=) c.471C= (p.Ile157=) c.480C= (p.Ile160=) | |
| 1 | g.21564204C>G | CA338878408 | ALPL | c.636C>G (p.Ile212Met) n.696C>G c.405C>G (p.Ile135Met) c.471C>G (p.Ile157Met) c.480C>G (p.Ile160Met) | |
| 1 | g.21564204C>T | CA416528471 | ALPL | c.636C>T (p.Ile212=) n.696C>T c.405C>T (p.Ile135=) c.471C>T (p.Ile157=) c.480C>T (p.Ile160=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21564205A>C | CA416528475 | ALPL | c.637A>C (p.Arg213=) n.697A>C c.406A>C (p.Arg136=) c.472A>C (p.Arg158=) c.481A>C (p.Arg161=) | |
| 1 | g.21564205A>G | CA338878410 | ALPL | c.637A>G (p.Arg213Gly) n.697A>G c.406A>G (p.Arg136Gly) c.472A>G (p.Arg158Gly) c.481A>G (p.Arg161Gly) | |
| 1 | g.21564205A>T | CA338878411 | ALPL | c.637A>T (p.Arg213Trp) n.697A>T c.406A>T (p.Arg136Trp) c.472A>T (p.Arg158Trp) c.481A>T (p.Arg161Trp) | |
| 1 | g.21564206G>A | CA338878413 | ALPL | c.638G>A (p.Arg213Lys) n.698G>A c.407G>A (p.Arg136Lys) c.473G>A (p.Arg158Lys) c.482G>A (p.Arg161Lys) | gnomAD v4 |
| 1 | g.21564206G>C | CA338878414 | ALPL | c.638G>C (p.Arg213Thr) n.698G>C c.407G>C (p.Arg136Thr) c.473G>C (p.Arg158Thr) c.482G>C (p.Arg161Thr) | |
| 1 | g.21564206G>T | CA338878415 | ALPL | c.638G>T (p.Arg213Met) n.698G>T c.407G>T (p.Arg136Met) c.473G>T (p.Arg158Met) c.482G>T (p.Arg161Met) | |
| 1 | g.21564207G>A | CA416528489 | ALPL | c.639G>A (p.Arg213=) n.699G>A c.408G>A (p.Arg136=) c.474G>A (p.Arg158=) c.483G>A (p.Arg161=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21564207G>C | CA338878416 | ALPL | c.639G>C (p.Arg213Ser) n.699G>C c.408G>C (p.Arg136Ser) c.474G>C (p.Arg158Ser) c.483G>C (p.Arg161Ser) | |
| 1 | g.21564207G= | CA1158014495 | ALPL | c.639G= (p.Arg213=) n.699G= c.408G= (p.Arg136=) c.474G= (p.Arg158=) c.483G= (p.Arg161=) | |
| 1 | g.21564207G>T | CA338878417 | ALPL | c.639G>T (p.Arg213Ser) n.699G>T c.408G>T (p.Arg136Ser) c.474G>T (p.Arg158Ser) c.483G>T (p.Arg161Ser) | |
| 1 | g.21564208G>A | CA19060401 | ALPL | c.640G>A (p.Asp214Asn) n.700G>A c.409G>A (p.Asp137Asn) c.475G>A (p.Asp159Asn) c.484G>A (p.Asp162Asn) | dbSNP gnomAD v4 |
| 1 | g.21564208G>C | CA338878419 | ALPL | c.640G>C (p.Asp214His) n.700G>C c.409G>C (p.Asp137His) c.475G>C (p.Asp159His) c.484G>C (p.Asp162His) | |
| 1 | g.21564208G= | CA1158014496 | ALPL | c.640G= (p.Asp214=) n.700G= c.409G= (p.Asp137=) c.475G= (p.Asp159=) c.484G= (p.Asp162=) | |
| 1 | g.21564208G>T | CA338878418 | ALPL | c.640G>T (p.Asp214Tyr) n.700G>T c.409G>T (p.Asp137Tyr) c.475G>T (p.Asp159Tyr) c.484G>T (p.Asp162Tyr) | |
| 1 | g.21564209A>C | CA338878421 | ALPL | c.641A>C (p.Asp214Ala) n.701A>C c.410A>C (p.Asp137Ala) c.476A>C (p.Asp159Ala) c.485A>C (p.Asp162Ala) | |
| 1 | g.21564209A>G | CA338878423 | ALPL | c.641A>G (p.Asp214Gly) n.701A>G c.410A>G (p.Asp137Gly) c.476A>G (p.Asp159Gly) c.485A>G (p.Asp162Gly) | gnomAD v4 |
| 1 | g.21564209A>T | CA338878425 | ALPL | c.641A>T (p.Asp214Val) n.701A>T c.410A>T (p.Asp137Val) c.476A>T (p.Asp159Val) c.485A>T (p.Asp162Val) | |
| 1 | g.21564210C>A | CA338878426 | ALPL | c.642C>A (p.Asp214Glu) n.702C>A c.411C>A (p.Asp137Glu) c.477C>A (p.Asp159Glu) c.486C>A (p.Asp162Glu) | |
| 1 | g.21564210C= | CA1158014497 | ALPL | c.642C= (p.Asp214=) n.702C= c.411C= (p.Asp137=) c.477C= (p.Asp159=) c.486C= (p.Asp162=) | |
| 1 | g.21564210C>G | CA338878428 | ALPL | c.642C>G (p.Asp214Glu) n.702C>G c.411C>G (p.Asp137Glu) c.477C>G (p.Asp159Glu) c.486C>G (p.Asp162Glu) | |
| 1 | g.21564210C>T | CA416528517 | ALPL | c.642C>T (p.Asp214=) n.702C>T c.411C>T (p.Asp137=) c.477C>T (p.Asp159=) c.486C>T (p.Asp162=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564211A= | CA1158014498 | ALPL | c.643A= (p.Ile215=) n.703A= c.412A= (p.Ile138=) c.478A= (p.Ile160=) c.487A= (p.Ile163=) | |
| 1 | g.21564211A>C | CA338878430 | ALPL | c.643A>C (p.Ile215Leu) n.703A>C c.412A>C (p.Ile138Leu) c.478A>C (p.Ile160Leu) c.487A>C (p.Ile163Leu) | |
| 1 | g.21564211A>G | CA666543 | ALPL | c.643A>G (p.Ile215Val) n.703A>G c.412A>G (p.Ile138Val) c.478A>G (p.Ile160Val) c.487A>G (p.Ile163Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564211A>T | CA338878431 | ALPL | c.643A>T (p.Ile215Phe) n.703A>T c.412A>T (p.Ile138Phe) c.478A>T (p.Ile160Phe) c.487A>T (p.Ile163Phe) | |
| 1 | g.21564212T>A | CA338878433 | ALPL | c.644T>A (p.Ile215Asn) c.413T>A (p.Ile138Asn) c.479T>A (p.Ile160Asn) c.488T>A (p.Ile163Asn) | |
| 1 | g.21564212T>C | CA338878435 | ALPL | c.644T>C (p.Ile215Thr) c.413T>C (p.Ile138Thr) c.479T>C (p.Ile160Thr) c.488T>C (p.Ile163Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21564212T>G | CA338878436 | ALPL | c.644T>G (p.Ile215Ser) c.413T>G (p.Ile138Ser) c.479T>G (p.Ile160Ser) c.488T>G (p.Ile163Ser) | |
| 1 | g.21564212T= | CA1158014499 | ALPL | c.644T= (p.Ile215=) c.413T= (p.Ile138=) c.479T= (p.Ile160=) c.488T= (p.Ile163=) | |
| 1 | g.21564213T>A | CA416528540 | ALPL | c.645T>A (p.Ile215=) c.414T>A (p.Ile138=) c.480T>A (p.Ile160=) c.489T>A (p.Ile163=) | |
| 1 | g.21564213T>C | CA416528539 | ALPL | c.645T>C (p.Ile215=) c.414T>C (p.Ile138=) c.480T>C (p.Ile160=) c.489T>C (p.Ile163=) | |
| 1 | g.21564213T>G | CA338878438 | ALPL | c.645T>G (p.Ile215Met) c.414T>G (p.Ile138Met) c.480T>G (p.Ile160Met) c.489T>G (p.Ile163Met) | |
| 1 | g.21564214G>A | CA338878443 | ALPL | c.646G>A (p.Asp216Asn) c.415G>A (p.Asp139Asn) c.481G>A (p.Asp161Asn) c.490G>A (p.Asp164Asn) | |
| 1 | g.21564214G>C | CA338878441 | ALPL | c.646G>C (p.Asp216His) c.415G>C (p.Asp139His) c.481G>C (p.Asp161His) c.490G>C (p.Asp164His) | |
| 1 | g.21564214G>T | CA338878442 | ALPL | c.646G>T (p.Asp216Tyr) c.415G>T (p.Asp139Tyr) c.481G>T (p.Asp161Tyr) c.490G>T (p.Asp164Tyr) | |
| 1 | g.21564215A= | CA1158014500 | ALPL | c.647A= (p.Asp216=) c.416A= (p.Asp139=) c.482A= (p.Asp161=) c.491A= (p.Asp164=) | |
| 1 | g.21564215A>C | CA338878445 | ALPL | c.647A>C (p.Asp216Ala) c.416A>C (p.Asp139Ala) c.482A>C (p.Asp161Ala) c.491A>C (p.Asp164Ala) | |
| 1 | g.21564215A>G | CA338878446 | ALPL | c.647A>G (p.Asp216Gly) c.416A>G (p.Asp139Gly) c.482A>G (p.Asp161Gly) c.491A>G (p.Asp164Gly) | ClinVar gnomAD v4 |
| 1 | g.21564215A>T | CA338878448 | ALPL | c.647A>T (p.Asp216Val) c.416A>T (p.Asp139Val) c.482A>T (p.Asp161Val) c.491A>T (p.Asp164Val) | |
| 1 | g.21564216C>A | CA338878450 | ALPL | c.648C>A (p.Asp216Glu) c.417C>A (p.Asp139Glu) c.483C>A (p.Asp161Glu) c.492C>A (p.Asp164Glu) | |
| 1 | g.21564216C= | CA1143501724 | ALPL | c.648C= (p.Asp216=) c.417C= (p.Asp139=) c.483C= (p.Asp161=) c.492C= (p.Asp164=) | |
| 1 | g.21564216C>G | CA338878452 | ALPL | c.648C>G (p.Asp216Glu) c.417C>G (p.Asp139Glu) c.483C>G (p.Asp161Glu) c.492C>G (p.Asp164Glu) | |
| 1 | g.21564216C>T | CA666544 | ALPL | c.648C>T (p.Asp216=) c.417C>T (p.Asp139=) c.483C>T (p.Asp161=) c.492C>T (p.Asp164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564217_21564224dup | CA521899862 | ALPL | c.648+1_648+8dup c.417+1_417+8dup c.483+1_483+8dup c.492+1_492+8dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564217G>A | CA212949 | ALPL | c.648+1G>A (n.648+1G>A) c.417+1G>A (n.417+1G>A) c.483+1G>A (n.483+1G>A) c.492+1G>A (n.492+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564217G>C | CA338878455 | ALPL | c.648+1G>C (n.648+1G>C) c.417+1G>C (n.417+1G>C) c.483+1G>C (n.483+1G>C) c.492+1G>C (n.492+1G>C) | |
| 1 | g.21564217G= | CA1149125426 | ALPL | c.648+1G= (n.648+1G=) c.417+1G= (n.417+1G=) c.483+1G= (n.483+1G=) c.492+1G= (n.492+1G=) | |
| 1 | g.21564217G>T | CA338878456 | ALPL | c.648+1G>T (n.648+1G>T) c.417+1G>T (n.417+1G>T) c.483+1G>T (n.483+1G>T) c.492+1G>T (n.492+1G>T) | ClinVar gnomAD v4 |
| 1 | g.21564218T>A | CA338878457 | ALPL | c.648+2T>A (n.648+2T>A) c.417+2T>A (n.417+2T>A) c.483+2T>A (n.483+2T>A) c.492+2T>A (n.492+2T>A) | |
| 1 | g.21564218T>C | CA338878458 | ALPL | c.648+2T>C (n.648+2T>C) c.417+2T>C (n.417+2T>C) c.483+2T>C (n.483+2T>C) c.492+2T>C (n.492+2T>C) | |
| 1 | g.21564218T>G | CA338878459 | ALPL | c.648+2T>G (n.648+2T>G) c.417+2T>G (n.417+2T>G) c.483+2T>G (n.483+2T>G) c.492+2T>G (n.492+2T>G) | |
| 1 | g.21564218dup | CA2586964037 | ALPL | c.648+2dup (n.648+2dup) c.417+2dup (n.417+2dup) c.483+2dup (n.483+2dup) c.492+2dup (n.492+2dup) | |
| 1 | g.21564219G>T | CA2573337528 | ALPL | c.648+3G>T (n.648+3G>T) c.417+3G>T (n.417+3G>T) c.483+3G>T (n.483+3G>T) c.492+3G>T (n.492+3G>T) | |
| 1 | g.21564221G>C | CA666545 | ALPL | c.648+5G>C (n.648+5G>C) c.417+5G>C (n.417+5G>C) c.483+5G>C (n.483+5G>C) c.492+5G>C (n.492+5G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564221G= | CA1158014501 | ALPL | c.648+5G= (n.648+5G=) c.417+5G= (n.417+5G=) c.483+5G= (n.483+5G=) c.492+5G= (n.492+5G=) | |
| 1 | g.21564222T>C | CA2740114624 | ALPL | c.648+6T>C (n.648+6T>C) c.417+6T>C (n.417+6T>C) c.483+6T>C (n.483+6T>C) c.492+6T>C (n.492+6T>C) | |
| 1 | g.21564224C= | CA1143522553 | ALPL | c.648+8C= (n.648+8C=) c.417+8C= (n.417+8C=) c.483+8C= (n.483+8C=) c.492+8C= (n.492+8C=) | |
| 1 | g.21564224C>G | CA2643930572 | ALPL | c.648+8C>G (n.648+8C>G) c.417+8C>G (n.417+8C>G) c.483+8C>G (n.483+8C>G) c.492+8C>G (n.492+8C>G) | gnomAD v4 |
| 1 | g.21564224C>T | CA19060411 | ALPL | c.648+8C>T (n.648+8C>T) c.417+8C>T (n.417+8C>T) c.483+8C>T (n.483+8C>T) c.492+8C>T (n.492+8C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21564226C>A | CA2580061468 | ALPL | c.648+10C>A (n.648+10C>A) c.417+10C>A (n.417+10C>A) c.483+10C>A (n.483+10C>A) c.492+10C>A (n.492+10C>A) | ClinVar |
| 1 | g.21564226C= | CA1158014502 | ALPL | c.648+10C= (n.648+10C=) c.417+10C= (n.417+10C=) c.483+10C= (n.483+10C=) c.492+10C= (n.492+10C=) | |
| 1 | g.21564226C>T | CA666546 | ALPL | c.648+10C>T (n.648+10C>T) c.417+10C>T (n.417+10C>T) c.483+10C>T (n.483+10C>T) c.492+10C>T (n.492+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564226_21564230del | CA2643930574 | ALPL | c.648+10_648+14del (n.648+10_648+14del) c.417+10_417+14del (n.417+10_417+14del) c.483+10_483+14del (n.483+10_483+14del) c.492+10_492+14del (n.492+10_492+14del) | gnomAD v4 |
| 1 | g.21564227G>A | CA666547 | ALPL | c.648+11G>A (n.648+11G>A) c.417+11G>A (n.417+11G>A) c.483+11G>A (n.483+11G>A) c.492+11G>A (n.492+11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564227G>C | CA2523589368 | ALPL | c.648+11G>C (n.648+11G>C) c.417+11G>C (n.417+11G>C) c.483+11G>C (n.483+11G>C) c.492+11G>C (n.492+11G>C) | gnomAD v4 |
| 1 | g.21564227G= | CA1158014503 | ALPL | c.648+11G= (n.648+11G=) c.417+11G= (n.417+11G=) c.483+11G= (n.483+11G=) c.492+11G= (n.492+11G=) | |
| 1 | g.21564227G>T | CA2643930575 | ALPL | c.648+11G>T (n.648+11G>T) c.417+11G>T (n.417+11G>T) c.483+11G>T (n.483+11G>T) c.492+11G>T (n.492+11G>T) | gnomAD v4 |
| 1 | g.21564231dup | CA2742768355 | ALPL | c.648+15dup (n.648+15dup) c.417+15dup (n.417+15dup) c.483+15dup (n.483+15dup) c.492+15dup (n.492+15dup) | |
| 1 | g.21564230_21564231dup | CA2742768356 | ALPL | c.648+14_648+15dup (n.648+14_648+15dup) c.417+14_417+15dup (n.417+14_417+15dup) c.483+14_483+15dup (n.483+14_483+15dup) c.492+14_492+15dup (n.492+14_492+15dup) | |
| 1 | g.21564231del | CA2643930576 | ALPL | c.648+15del (n.648+15del) c.417+15del (n.417+15del) c.483+15del (n.483+15del) c.492+15del (n.492+15del) | ClinVar gnomAD v4 |
| 1 | g.21564228G>A | CA2643930577 | ALPL | c.648+12G>A (n.648+12G>A) c.417+12G>A (n.417+12G>A) c.483+12G>A (n.483+12G>A) c.492+12G>A (n.492+12G>A) | gnomAD v4 |
| 1 | g.21564230G>A | CA19060420 | ALPL | c.648+14G>A (n.648+14G>A) c.417+14G>A (n.417+14G>A) c.483+14G>A (n.483+14G>A) c.492+14G>A (n.492+14G>A) | ClinVar dbSNP |
| 1 | g.21564230G= | CA1158014504 | ALPL | c.648+14G= (n.648+14G=) c.417+14G= (n.417+14G=) c.483+14G= (n.483+14G=) c.492+14G= (n.492+14G=) | |
| 1 | g.21564230G>T | CA2643930578 | ALPL | c.648+14G>T (n.648+14G>T) c.417+14G>T (n.417+14G>T) c.483+14G>T (n.483+14G>T) c.492+14G>T (n.492+14G>T) | ClinVar gnomAD v4 |
| 1 | g.21564231G>A | CA731316414 | ALPL | c.648+15G>A (n.648+15G>A) c.417+15G>A (n.417+15G>A) c.483+15G>A (n.483+15G>A) c.492+15G>A (n.492+15G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21564231G= | CA1158014505 | ALPL | c.648+15G= (n.648+15G=) c.417+15G= (n.417+15G=) c.483+15G= (n.483+15G=) c.492+15G= (n.492+15G=) | |
| 1 | g.21564232C>T | CA2574253045 | ALPL | c.648+16C>T (n.648+16C>T) c.417+16C>T (n.417+16C>T) c.483+16C>T (n.483+16C>T) c.492+16C>T (n.492+16C>T) | |
| 1 | g.21564232_21564233insCC | CA2643930580 | ALPL | c.648+16_648+17insCC (n.648+16_648+17insCC) c.417+16_417+17insCC (n.417+16_417+17insCC) c.483+16_483+17insCC (n.483+16_483+17insCC) c.492+16_492+17insCC (n.492+16_492+17insCC) | gnomAD v4 |
| 1 | g.21564234G>T | CA2643930581 | ALPL | c.648+18G>T (n.648+18G>T) c.417+18G>T (n.417+18G>T) c.483+18G>T (n.483+18G>T) c.492+18G>T (n.492+18G>T) | gnomAD v4 |
| 1 | g.21564235C>A | CA2573337531 | ALPL | c.648+19C>A (n.648+19C>A) c.417+19C>A (n.417+19C>A) c.483+19C>A (n.483+19C>A) c.492+19C>A (n.492+19C>A) | |
| 1 | g.21564235C>T | CA2573337535 | ALPL | c.648+19C>T (n.648+19C>T) c.417+19C>T (n.417+19C>T) c.483+19C>T (n.483+19C>T) c.492+19C>T (n.492+19C>T) | ClinVar gnomAD v4 |
| 1 | g.21564236C= | CA1143631648 | ALPL | c.648+20C= (n.648+20C=) c.417+20C= (n.417+20C=) c.483+20C= (n.483+20C=) c.492+20C= (n.492+20C=) | |
| 1 | g.21564236C>G | CA521899863 | ALPL | c.648+20C>G (n.648+20C>G) c.417+20C>G (n.417+20C>G) c.483+20C>G (n.483+20C>G) c.492+20C>G (n.492+20C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564236C>T | CA666548 | ALPL | c.648+20C>T (n.648+20C>T) c.417+20C>T (n.417+20C>T) c.483+20C>T (n.483+20C>T) c.492+20C>T (n.492+20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564237G>A | CA666549 | ALPL | c.648+21G>A (n.648+21G>A) c.417+21G>A (n.417+21G>A) c.483+21G>A (n.483+21G>A) c.492+21G>A (n.492+21G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.21564237G>C | CA2574253048 | ALPL | c.648+21G>C (n.648+21G>C) c.417+21G>C (n.417+21G>C) c.483+21G>C (n.483+21G>C) c.492+21G>C (n.492+21G>C) | |
| 1 | g.21564237G= | CA1158014506 | ALPL | c.648+21G= (n.648+21G=) c.417+21G= (n.417+21G=) c.483+21G= (n.483+21G=) c.492+21G= (n.492+21G=) | |
| 1 | g.21564238G>A | CA999405119 | ALPL | c.648+22G>A (n.648+22G>A) c.417+22G>A (n.417+22G>A) c.483+22G>A (n.483+22G>A) c.492+22G>A (n.492+22G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21564238G= | CA1158014507 | ALPL | c.648+22G= (n.648+22G=) c.417+22G= (n.417+22G=) c.483+22G= (n.483+22G=) c.492+22G= (n.492+22G=) | |
| 1 | g.21564238G>T | CA2568446725 | ALPL | c.648+22G>T (n.648+22G>T) c.417+22G>T (n.417+22G>T) c.483+22G>T (n.483+22G>T) c.492+22G>T (n.492+22G>T) | gnomAD v4 |
| 1 | g.21564239G>T | CA2643930584 | ALPL | c.648+23G>T (n.648+23G>T) c.417+23G>T (n.417+23G>T) c.483+23G>T (n.483+23G>T) c.492+23G>T (n.492+23G>T) | gnomAD v4 |
| 1 | g.21564240C>A | CA999405122 | ALPL | c.648+24C>A (n.648+24C>A) c.417+24C>A (n.417+24C>A) c.483+24C>A (n.483+24C>A) c.492+24C>A (n.492+24C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21564240C= | CA1158014508 | ALPL | c.648+24C= (n.648+24C=) c.417+24C= (n.417+24C=) c.483+24C= (n.483+24C=) c.492+24C= (n.492+24C=) | |
| 1 | g.21564240C>T | CA521899864 | ALPL | c.648+24C>T (n.648+24C>T) c.417+24C>T (n.417+24C>T) c.483+24C>T (n.483+24C>T) c.492+24C>T (n.492+24C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21564243G>A | CA2643930586 | ALPL | c.648+27G>A (n.648+27G>A) c.417+27G>A (n.417+27G>A) c.483+27G>A (n.483+27G>A) c.492+27G>A (n.492+27G>A) | gnomAD v4 |
| 1 | g.21564243G>C | CA1158014510 | ALPL | c.648+27G>C (n.648+27G>C) c.417+27G>C (n.417+27G>C) c.483+27G>C (n.483+27G>C) c.492+27G>C (n.492+27G>C) | dbSNP |
| 1 | g.21564243G= | CA1158014509 | ALPL | c.648+27G= (n.648+27G=) c.417+27G= (n.417+27G=) c.483+27G= (n.483+27G=) c.492+27G= (n.492+27G=) | |
| 1 | g.21564243G>T | CA2573337536 | ALPL | c.648+27G>T (n.648+27G>T) c.417+27G>T (n.417+27G>T) c.483+27G>T (n.483+27G>T) c.492+27G>T (n.492+27G>T) | |
| 1 | g.21564244G>A | CA731316425 | ALPL | c.648+28G>A (n.648+28G>A) c.417+28G>A (n.417+28G>A) c.483+28G>A (n.483+28G>A) c.492+28G>A (n.492+28G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21564244G= | CA1158014511 | ALPL | c.648+28G= (n.648+28G=) c.417+28G= (n.417+28G=) c.483+28G= (n.483+28G=) c.492+28G= (n.492+28G=) | |
| 1 | g.21564244G>T | CA2643930587 | ALPL | c.648+28G>T (n.648+28G>T) c.417+28G>T (n.417+28G>T) c.483+28G>T (n.483+28G>T) c.492+28G>T (n.492+28G>T) | gnomAD v4 |
| 1 | g.21564246C>A | CA2643930588 | ALPL | c.648+30C>A (n.648+30C>A) c.417+30C>A (n.417+30C>A) c.483+30C>A (n.483+30C>A) c.492+30C>A (n.492+30C>A) | gnomAD v4 |
| 1 | g.21564246C= | CA1147918112 | ALPL | c.648+30C= (n.648+30C=) c.417+30C= (n.417+30C=) c.483+30C= (n.483+30C=) c.492+30C= (n.492+30C=) | |
| 1 | g.21564246C>T | CA19060439 | ALPL | c.648+30C>T (n.648+30C>T) c.417+30C>T (n.417+30C>T) c.483+30C>T (n.483+30C>T) c.492+30C>T (n.492+30C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.21564246_21564247delinsCG | CA1158014512 | ALPL | c.648+30_648+31delinsCG (n.648+30_648+31delinsCG) c.417+30_417+31delinsCG (n.417+30_417+31delinsCG) c.483+30_483+31delinsCG (n.483+30_483+31delinsCG) c.492+30_492+31delinsCG (n.492+30_492+31delinsCG) | |
| 1 | g.21564247G>A | CA666551 | ALPL | c.648+31G>A (n.648+31G>A) c.417+31G>A (n.417+31G>A) c.483+31G>A (n.483+31G>A) c.492+31G>A (n.492+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21564247G= | CA1158014513 | ALPL | c.648+31G= (n.648+31G=) c.417+31G= (n.417+31G=) c.483+31G= (n.483+31G=) c.492+31G= (n.492+31G=) | |
| 1 | g.21564250dup | CA521899865 | ALPL | c.648+34dup (n.648+34dup) c.417+34dup (n.417+34dup) c.483+34dup (n.483+34dup) c.492+34dup (n.492+34dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564250del | CA666550 | ALPL | c.648+34del (n.648+34del) c.417+34del (n.417+34del) c.483+34del (n.483+34del) c.492+34del (n.492+34del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21564248G>T | CA2643930592 | ALPL | c.648+32G>T (n.648+32G>T) c.417+32G>T (n.417+32G>T) c.483+32G>T (n.483+32G>T) c.492+32G>T (n.492+32G>T) | gnomAD v4 |
| 1 | g.21564249G>A | CA666552 | ALPL | c.648+33G>A (n.648+33G>A) c.417+33G>A (n.417+33G>A) c.483+33G>A (n.483+33G>A) c.492+33G>A (n.492+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564249G= | CA1158014514 | ALPL | c.648+33G= (n.648+33G=) c.417+33G= (n.417+33G=) c.483+33G= (n.483+33G=) c.492+33G= (n.492+33G=) | |
| 1 | g.21564249G>T | CA2643930593 | ALPL | c.648+33G>T (n.648+33G>T) c.417+33G>T (n.417+33G>T) c.483+33G>T (n.483+33G>T) c.492+33G>T (n.492+33G>T) | gnomAD v4 |
| 1 | g.21564250G>A | CA521899867 | ALPL | c.648+34G>A (n.648+34G>A) c.417+34G>A (n.417+34G>A) c.483+34G>A (n.483+34G>A) c.492+34G>A (n.492+34G>A) | dbSNP gnomAD v2 |
| 1 | g.21564250G>C | CA2573337542 | ALPL | c.648+34G>C (n.648+34G>C) c.417+34G>C (n.417+34G>C) c.483+34G>C (n.483+34G>C) c.492+34G>C (n.492+34G>C) | |
| 1 | g.21564250G= | CA1158014515 | ALPL | c.648+34G= (n.648+34G=) c.417+34G= (n.417+34G=) c.483+34G= (n.483+34G=) c.492+34G= (n.492+34G=) | |
| 1 | g.21564250G>T | CA2552022762 | ALPL | c.648+34G>T (n.648+34G>T) c.417+34G>T (n.417+34G>T) c.483+34G>T (n.483+34G>T) c.492+34G>T (n.492+34G>T) | |
| 1 | g.21564251T>C | CA2573337549 | ALPL | c.648+35T>C (n.648+35T>C) c.417+35T>C (n.417+35T>C) c.483+35T>C (n.483+35T>C) c.492+35T>C (n.492+35T>C) | |
| 1 | g.21564251_21564252insTGC | CA2564945645 | ALPL | c.648+35_648+36insTGC (n.648+35_648+36insTGC) c.417+35_417+36insTGC (n.417+35_417+36insTGC) c.483+35_483+36insTGC (n.483+35_483+36insTGC) c.492+35_492+36insTGC (n.492+35_492+36insTGC) | |
| 1 | g.21564252G>A | CA521899868 | ALPL | c.648+36G>A (n.648+36G>A) c.417+36G>A (n.417+36G>A) c.483+36G>A (n.483+36G>A) c.492+36G>A (n.492+36G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21564252G>C | CA2573337555 | ALPL | c.648+36G>C (n.648+36G>C) c.417+36G>C (n.417+36G>C) c.483+36G>C (n.483+36G>C) c.492+36G>C (n.492+36G>C) | |
| 1 | g.21564252G= | CA1158014516 | ALPL | c.648+36G= (n.648+36G=) c.417+36G= (n.417+36G=) c.483+36G= (n.483+36G=) c.492+36G= (n.492+36G=) | |
| 1 | g.21564252G>T | CA2573337553 | ALPL | c.648+36G>T (n.648+36G>T) c.417+36G>T (n.417+36G>T) c.483+36G>T (n.483+36G>T) c.492+36G>T (n.492+36G>T) | gnomAD v4 |