Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21575829T>A | CA338881219 | ALPL | c.1094T>A (p.Leu365Ter) n.363T>A c.169T>A c.863T>A (p.Leu288Ter) c.929T>A (p.Leu310Ter) c.938T>A (p.Leu313Ter) | |
1 | g.21575829T>C | CA338881221 | ALPL | c.1094T>C (p.Leu365Ser) n.363T>C c.169T>C c.863T>C (p.Leu288Ser) c.929T>C (p.Leu310Ser) c.938T>C (p.Leu313Ser) | |
1 | g.21575829T>G | CA338881220 | ALPL | c.1094T>G (p.Leu365Trp) n.363T>G c.169T>G c.863T>G (p.Leu288Trp) c.929T>G (p.Leu310Trp) c.938T>G (p.Leu313Trp) | ClinVar dbSNP |
1 | g.21575830G>A | CA416533175 | ALPL | c.1095G>A (p.Leu365=) n.364G>A c.170G>A c.864G>A (p.Leu288=) c.930G>A (p.Leu310=) c.939G>A (p.Leu313=) | |
1 | g.21575830G>C | CA338881222 | ALPL | c.1095G>C (p.Leu365Phe) n.364G>C c.170G>C c.864G>C (p.Leu288Phe) c.930G>C (p.Leu310Phe) c.939G>C (p.Leu313Phe) | |
1 | g.21575830G>T | CA338881223 | ALPL | c.1095G>T (p.Leu365Phe) n.364G>T c.170G>T c.864G>T (p.Leu288Phe) c.930G>T (p.Leu310Phe) c.939G>T (p.Leu313Phe) | |
1 | g.21575831A>C | CA338881224 | ALPL | c.1096A>C (p.Thr366Pro) n.365A>C c.171A>C c.865A>C (p.Thr289Pro) c.931A>C (p.Thr311Pro) c.940A>C (p.Thr314Pro) | |
1 | g.21575831A>G | CA338881225 | ALPL | c.1096A>G (p.Thr366Ala) n.365A>G c.171A>G c.865A>G (p.Thr289Ala) c.931A>G (p.Thr311Ala) c.940A>G (p.Thr314Ala) | |
1 | g.21575831A>T | CA338881226 | ALPL | c.1096A>T (p.Thr366Ser) n.365A>T c.171A>T c.865A>T (p.Thr289Ser) c.931A>T (p.Thr311Ser) c.940A>T (p.Thr314Ser) | |
1 | g.21575831_21575834delinsACCT | CA1158019312 | ALPL | c.1096_1099delinsACCT (p.Thr366=) n.365_368delinsACCT c.171_174delinsACCT c.865_868delinsACCT (p.Thr289=) c.931_934delinsACCT (p.Thr311=) c.940_943delinsACCT (p.Thr314=) | |
1 | g.21575832C>A | CA338881227 | ALPL | c.1097C>A (p.Thr366Asn) n.366C>A c.172C>A c.866C>A (p.Thr289Asn) c.932C>A (p.Thr311Asn) c.941C>A (p.Thr314Asn) | |
1 | g.21575832C>G | CA338881228 | ALPL | c.1097C>G (p.Thr366Ser) n.366C>G c.172C>G c.866C>G (p.Thr289Ser) c.932C>G (p.Thr311Ser) c.941C>G (p.Thr314Ser) | |
1 | g.21575832C>T | CA338881229 | ALPL | c.1097C>T (p.Thr366Ile) n.366C>T c.172C>T c.866C>T (p.Thr289Ile) c.932C>T (p.Thr311Ile) c.941C>T (p.Thr314Ile) | ClinVar gnomAD v4 |
1 | g.21575836_21575838del | CA891842433 | ALPL | c.1101_1103del (p.Ser368del) n.370_372del c.176_178del c.870_872del (p.Ser291del) c.936_938del (p.Ser313del) c.945_947del (p.Ser316del) | ClinVar dbSNP gnomAD v4 |
1 | g.21575833C>A | CA416533191 | ALPL | c.1098C>A (p.Thr366=) n.367C>A c.173C>A c.867C>A (p.Thr289=) c.933C>A (p.Thr311=) c.942C>A (p.Thr314=) | |
1 | g.21575833C= | CA1158019313 | ALPL | c.1098C= (p.Thr366=) n.367C= c.173C= c.867C= (p.Thr289=) c.933C= (p.Thr311=) c.942C= (p.Thr314=) | |
1 | g.21575833C>G | CA416533187 | ALPL | c.1098C>G (p.Thr366=) n.367C>G c.173C>G c.867C>G (p.Thr289=) c.933C>G (p.Thr311=) c.942C>G (p.Thr314=) | ClinVar dbSNP COSMIC |
1 | g.21575833C>T | CA416533189 | ALPL | c.1098C>T (p.Thr366=) n.367C>T c.173C>T c.867C>T (p.Thr289=) c.933C>T (p.Thr311=) c.942C>T (p.Thr314=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575834T>A | CA338881230 | ALPL | c.1099T>A (p.Ser367Thr) n.368T>A c.174T>A c.868T>A (p.Ser290Thr) c.934T>A (p.Ser312Thr) c.943T>A (p.Ser315Thr) | ClinVar |
1 | g.21575834T>C | CA338881231 | ALPL | c.1099T>C (p.Ser367Pro) n.368T>C c.174T>C c.868T>C (p.Ser290Pro) c.934T>C (p.Ser312Pro) c.943T>C (p.Ser315Pro) | |
1 | g.21575834T>G | CA338881232 | ALPL | c.1099T>G (p.Ser367Ala) n.368T>G c.174T>G c.868T>G (p.Ser290Ala) c.934T>G (p.Ser312Ala) c.943T>G (p.Ser315Ala) | |
1 | g.21575835C>A | CA338881235 | ALPL | c.1100C>A (p.Ser367Tyr) n.369C>A c.175C>A c.869C>A (p.Ser290Tyr) c.935C>A (p.Ser312Tyr) c.944C>A (p.Ser315Tyr) | |
1 | g.21575835C= | CA1158019314 | ALPL | c.1100C= (p.Ser367=) n.369C= c.175C= c.869C= (p.Ser290=) c.935C= (p.Ser312=) c.944C= (p.Ser315=) | |
1 | g.21575835C>G | CA338881233 | ALPL | c.1100C>G (p.Ser367Cys) n.369C>G c.175C>G c.869C>G (p.Ser290Cys) c.935C>G (p.Ser312Cys) c.944C>G (p.Ser315Cys) | |
1 | g.21575835C>T | CA338881234 | ALPL | c.1100C>T (p.Ser367Phe) n.369C>T c.175C>T c.869C>T (p.Ser290Phe) c.935C>T (p.Ser312Phe) c.944C>T (p.Ser315Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575836C>A | CA416533200 | ALPL | c.1101C>A (p.Ser367=) n.370C>A c.176C>A c.870C>A (p.Ser290=) c.936C>A (p.Ser312=) c.945C>A (p.Ser315=) | COSMIC |
1 | g.21575836C= | CA1158019315 | ALPL | c.1101C= (p.Ser367=) n.370C= c.176C= c.870C= (p.Ser290=) c.936C= (p.Ser312=) c.945C= (p.Ser315=) | |
1 | g.21575836C>G | CA416533203 | ALPL | c.1101C>G (p.Ser367=) n.370C>G c.176C>G c.870C>G (p.Ser290=) c.936C>G (p.Ser312=) c.945C>G (p.Ser315=) | |
1 | g.21575836C>T | CA666731 | ALPL | c.1101C>T (p.Ser367=) n.370C>T c.176C>T c.870C>T (p.Ser290=) c.936C>T (p.Ser312=) c.945C>T (p.Ser315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575837T>A | CA338881236 | ALPL | c.1102T>A (p.Ser368Thr) n.371T>A c.177T>A c.871T>A (p.Ser291Thr) c.937T>A (p.Ser313Thr) c.946T>A (p.Ser316Thr) | |
1 | g.21575837T>C | CA338881237 | ALPL | c.1102T>C (p.Ser368Pro) n.371T>C c.177T>C c.871T>C (p.Ser291Pro) c.937T>C (p.Ser313Pro) c.946T>C (p.Ser316Pro) | |
1 | g.21575837T>G | CA338881238 | ALPL | c.1102T>G (p.Ser368Ala) n.371T>G c.177T>G c.871T>G (p.Ser291Ala) c.937T>G (p.Ser313Ala) c.946T>G (p.Ser316Ala) | |
1 | g.21575838C>A | CA338881239 | ALPL | c.1103C>A (p.Ser368Ter) n.372C>A c.178C>A c.872C>A (p.Ser291Ter) c.938C>A (p.Ser313Ter) c.947C>A (p.Ser316Ter) | |
1 | g.21575838C= | CA1143621752 | ALPL | c.1103C= (p.Ser368=) n.372C= c.178C= c.872C= (p.Ser291=) c.938C= (p.Ser313=) c.947C= (p.Ser316=) | |
1 | g.21575838C>G | CA338881241 | ALPL | c.1103C>G (p.Ser368Trp) n.372C>G c.178C>G c.872C>G (p.Ser291Trp) c.938C>G (p.Ser313Trp) c.947C>G (p.Ser316Trp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575838C>T | CA666732 | ALPL | c.1103C>T (p.Ser368Leu) n.372C>T c.178C>T c.872C>T (p.Ser291Leu) c.938C>T (p.Ser313Leu) c.947C>T (p.Ser316Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575839G>A | CA416533214 | ALPL | c.1104G>A (p.Ser368=) n.373G>A c.179G>A c.873G>A (p.Ser291=) c.939G>A (p.Ser313=) c.948G>A (p.Ser316=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21575839G>C | CA416533220 | ALPL | c.1104G>C (p.Ser368=) n.373G>C c.179G>C c.873G>C (p.Ser291=) c.939G>C (p.Ser313=) c.948G>C (p.Ser316=) | |
1 | g.21575839G= | CA1158019316 | ALPL | c.1104G= (p.Ser368=) n.373G= c.179G= c.873G= (p.Ser291=) c.939G= (p.Ser313=) c.948G= (p.Ser316=) | |
1 | g.21575839G>T | CA416533211 | ALPL | c.1104G>T (p.Ser368=) n.373G>T c.179G>T c.873G>T (p.Ser291=) c.939G>T (p.Ser313=) c.948G>T (p.Ser316=) | ClinVar |
1 | g.21575840G>A | CA338881244 | ALPL | c.1105G>A (p.Glu369Lys) n.374G>A c.180G>A c.874G>A (p.Glu292Lys) c.940G>A (p.Glu314Lys) c.949G>A (p.Glu317Lys) | |
1 | g.21575840G>C | CA338881245 | ALPL | c.1105G>C (p.Glu369Gln) n.374G>C c.180G>C c.874G>C (p.Glu292Gln) c.940G>C (p.Glu314Gln) c.949G>C (p.Glu317Gln) | |
1 | g.21575840G>T | CA338881247 | ALPL | c.1105G>T (p.Glu369Ter) n.374G>T c.180G>T c.874G>T (p.Glu292Ter) c.940G>T (p.Glu314Ter) c.949G>T (p.Glu317Ter) | |
1 | g.21575841A>C | CA338881251 | ALPL | c.1106A>C (p.Glu369Ala) n.375A>C c.181A>C c.875A>C (p.Glu292Ala) c.941A>C (p.Glu314Ala) c.950A>C (p.Glu317Ala) | |
1 | g.21575841A>G | CA338881252 | ALPL | c.1106A>G (p.Glu369Gly) n.375A>G c.181A>G c.875A>G (p.Glu292Gly) c.941A>G (p.Glu314Gly) c.950A>G (p.Glu317Gly) | |
1 | g.21575841A>T | CA338881249 | ALPL | c.1106A>T (p.Glu369Val) n.375A>T c.181A>T c.875A>T (p.Glu292Val) c.941A>T (p.Glu314Val) c.950A>T (p.Glu317Val) | |
1 | g.21575842A>C | CA338881254 | ALPL | c.1107A>C (p.Glu369Asp) n.376A>C c.182A>C c.876A>C (p.Glu292Asp) c.942A>C (p.Glu314Asp) c.951A>C (p.Glu317Asp) | |
1 | g.21575842A>G | CA416533228 | ALPL | c.1107A>G (p.Glu369=) n.376A>G c.182A>G c.876A>G (p.Glu292=) c.942A>G (p.Glu314=) c.951A>G (p.Glu317=) | |
1 | g.21575842A>T | CA338881256 | ALPL | c.1107A>T (p.Glu369Asp) n.376A>T c.182A>T c.876A>T (p.Glu292Asp) c.942A>T (p.Glu314Asp) c.951A>T (p.Glu317Asp) | |
1 | g.21575843G>A | CA338881258 | ALPL | c.1108G>A (p.Asp370Asn) n.377G>A c.183G>A c.877G>A (p.Asp293Asn) c.943G>A (p.Asp315Asn) c.952G>A (p.Asp318Asn) | |
1 | g.21575843G>C | CA338881259 | ALPL | c.1108G>C (p.Asp370His) n.377G>C c.183G>C c.877G>C (p.Asp293His) c.943G>C (p.Asp315His) c.952G>C (p.Asp318His) | |
1 | g.21575843G>T | CA338881260 | ALPL | c.1108G>T (p.Asp370Tyr) n.377G>T c.183G>T c.877G>T (p.Asp293Tyr) c.943G>T (p.Asp315Tyr) c.952G>T (p.Asp318Tyr) | |
1 | g.21575844A>C | CA338881263 | ALPL | c.1109A>C (p.Asp370Ala) n.378A>C c.184A>C c.878A>C (p.Asp293Ala) c.944A>C (p.Asp315Ala) c.953A>C (p.Asp318Ala) | |
1 | g.21575844A>G | CA338881264 | ALPL | c.1109A>G (p.Asp370Gly) n.378A>G c.184A>G c.878A>G (p.Asp293Gly) c.944A>G (p.Asp315Gly) c.953A>G (p.Asp318Gly) | |
1 | g.21575844A>T | CA338881266 | ALPL | c.1109A>T (p.Asp370Val) n.378A>T c.184A>T c.878A>T (p.Asp293Val) c.944A>T (p.Asp315Val) c.953A>T (p.Asp318Val) | |
1 | g.21575845C>A | CA338881268 | ALPL | c.1110C>A (p.Asp370Glu) n.379C>A c.185C>A c.879C>A (p.Asp293Glu) c.945C>A (p.Asp315Glu) c.954C>A (p.Asp318Glu) | |
1 | g.21575845C>G | CA338881270 | ALPL | c.1110C>G (p.Asp370Glu) n.379C>G c.185C>G c.879C>G (p.Asp293Glu) c.945C>G (p.Asp315Glu) c.954C>G (p.Asp318Glu) | |
1 | g.21575845C>T | CA416533243 | ALPL | c.1110C>T (p.Asp370=) n.379C>T c.185C>T c.879C>T (p.Asp293=) c.945C>T (p.Asp315=) c.954C>T (p.Asp318=) | ClinVar dbSNP gnomAD v4 |
1 | g.21575846A= | CA1158019318 | ALPL | c.1111A= (p.Thr371=) n.380A= c.186A= c.880A= (p.Thr294=) c.946A= (p.Thr316=) c.955A= (p.Thr319=) | |
1 | g.21575846A>C | CA338881271 | ALPL | c.1111A>C (p.Thr371Pro) n.380A>C c.186A>C c.880A>C (p.Thr294Pro) c.946A>C (p.Thr316Pro) c.955A>C (p.Thr319Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575846A>G | CA338881273 | ALPL | c.1111A>G (p.Thr371Ala) n.380A>G c.186A>G c.880A>G (p.Thr294Ala) c.946A>G (p.Thr316Ala) c.955A>G (p.Thr319Ala) | |
1 | g.21575846A>T | CA338881275 | ALPL | c.1111A>T (p.Thr371Ser) n.380A>T c.186A>T c.880A>T (p.Thr294Ser) c.946A>T (p.Thr316Ser) c.955A>T (p.Thr319Ser) | |
1 | g.21575846_21575848del | CA913072855 | ALPL | c.1111_1113del (p.Thr371del) n.380_382del c.186_188del c.880_882del (p.Thr294del) c.946_948del (p.Thr316del) c.955_957del (p.Thr319del) | |
1 | g.21575846_21575848delinsACT | CA1158019317 | ALPL | c.1111_1113delinsACT (p.Thr371=) n.380_382delinsACT c.186_188delinsACT c.880_882delinsACT (p.Thr294=) c.946_948delinsACT (p.Thr316=) c.955_957delinsACT (p.Thr319=) | |
1 | g.21575847C>A | CA338881279 | ALPL | c.1112C>A (p.Thr371Asn) n.381C>A c.187C>A c.881C>A (p.Thr294Asn) c.947C>A (p.Thr316Asn) c.956C>A (p.Thr319Asn) | |
1 | g.21575847C= | CA1158019319 | ALPL | c.1112C= (p.Thr371=) n.381C= c.187C= c.881C= (p.Thr294=) c.947C= (p.Thr316=) c.956C= (p.Thr319=) | |
1 | g.21575847C>G | CA338881277 | ALPL | c.1112C>G (p.Thr371Ser) n.381C>G c.187C>G c.881C>G (p.Thr294Ser) c.947C>G (p.Thr316Ser) c.956C>G (p.Thr319Ser) | |
1 | g.21575847C>T | CA666733 | ALPL | c.1112C>T (p.Thr371Ile) n.381C>T c.187C>T c.881C>T (p.Thr294Ile) c.947C>T (p.Thr316Ile) c.956C>T (p.Thr319Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575849_21575850del | CA658820991 | ALPL | c.1114_1115del (p.Leu372AspfsTer?) n.383_384del c.189_190del c.883_884del (p.Leu295AspfsTer?) c.949_950del (p.Leu317AspfsTer?) c.958_959del (p.Leu320AspfsTer?) | ClinVar dbSNP gnomAD v4 |
1 | g.21575848T>A | CA416533254 | ALPL | c.1113T>A (p.Thr371=) n.382T>A c.188T>A c.882T>A (p.Thr294=) c.948T>A (p.Thr316=) c.957T>A (p.Thr319=) | ClinVar |
1 | g.21575848T>C | CA416533256 | ALPL | c.1113T>C (p.Thr371=) n.382T>C c.188T>C c.882T>C (p.Thr294=) c.948T>C (p.Thr316=) c.957T>C (p.Thr319=) | |
1 | g.21575848T>G | CA416533251 | ALPL | c.1113T>G (p.Thr371=) n.382T>G c.188T>G c.882T>G (p.Thr294=) c.948T>G (p.Thr316=) c.957T>G (p.Thr319=) | |
1 | g.21575849C>A | CA338881281 | ALPL | c.1114C>A (p.Leu372Met) n.383C>A c.189C>A c.883C>A (p.Leu295Met) c.949C>A (p.Leu317Met) c.958C>A (p.Leu320Met) | |
1 | g.21575849C= | CA1158019320 | ALPL | c.1114C= (p.Leu372=) n.383C= c.189C= c.883C= (p.Leu295=) c.949C= (p.Leu317=) c.958C= (p.Leu320=) | |
1 | g.21575849C>G | CA338881282 | ALPL | c.1114C>G (p.Leu372Val) n.383C>G c.189C>G c.883C>G (p.Leu295Val) c.949C>G (p.Leu317Val) c.958C>G (p.Leu320Val) | dbSNP gnomAD v2 |
1 | g.21575849C>T | CA416533261 | ALPL | c.1114C>T (p.Leu372=) n.383C>T c.189C>T c.883C>T (p.Leu295=) c.949C>T (p.Leu317=) c.958C>T (p.Leu320=) | |
1 | g.21575850T>A | CA338881284 | ALPL | c.1115T>A (p.Leu372Gln) n.384T>A c.190T>A c.884T>A (p.Leu295Gln) c.950T>A (p.Leu317Gln) c.959T>A (p.Leu320Gln) | |
1 | g.21575850T>C | CA338881286 | ALPL | c.1115T>C (p.Leu372Pro) n.384T>C c.190T>C c.884T>C (p.Leu295Pro) c.950T>C (p.Leu317Pro) c.959T>C (p.Leu320Pro) | |
1 | g.21575850T>G | CA338881288 | ALPL | c.1115T>G (p.Leu372Arg) n.384T>G c.190T>G c.884T>G (p.Leu295Arg) c.950T>G (p.Leu317Arg) c.959T>G (p.Leu320Arg) | |
1 | g.21575851G>A | CA416533269 | ALPL | c.1116G>A (p.Leu372=) n.385G>A c.191G>A c.885G>A (p.Leu295=) c.951G>A (p.Leu317=) c.960G>A (p.Leu320=) | ClinVar |
1 | g.21575851G>C | CA19070253 | ALPL | c.1116G>C (p.Leu372=) n.385G>C c.191G>C c.885G>C (p.Leu295=) c.951G>C (p.Leu317=) c.960G>C (p.Leu320=) | dbSNP gnomAD v4 |
1 | g.21575851G= | CA1143398688 | ALPL | c.1116G= (p.Leu372=) n.385G= c.191G= c.885G= (p.Leu295=) c.951G= (p.Leu317=) c.960G= (p.Leu320=) | |
1 | g.21575851G>T | CA416533272 | ALPL | c.1116G>T (p.Leu372=) n.385G>T c.191G>T c.885G>T (p.Leu295=) c.951G>T (p.Leu317=) c.960G>T (p.Leu320=) | |
1 | g.21575852A>C | CA338881290 | ALPL | c.1117A>C (p.Thr373Pro) n.386A>C c.192A>C c.886A>C (p.Thr296Pro) c.952A>C (p.Thr318Pro) c.961A>C (p.Thr321Pro) | |
1 | g.21575852A>G | CA338881291 | ALPL | c.1117A>G (p.Thr373Ala) n.386A>G c.192A>G c.886A>G (p.Thr296Ala) c.952A>G (p.Thr318Ala) c.961A>G (p.Thr321Ala) | |
1 | g.21575852A>T | CA338881293 | ALPL | c.1117A>T (p.Thr373Ser) n.386A>T c.192A>T c.886A>T (p.Thr296Ser) c.952A>T (p.Thr318Ser) c.961A>T (p.Thr321Ser) | |
1 | g.21575853C>A | CA338881295 | ALPL | c.1118C>A (p.Thr373Asn) n.387C>A c.193C>A c.887C>A (p.Thr296Asn) c.953C>A (p.Thr318Asn) c.962C>A (p.Thr321Asn) | |
1 | g.21575853C>G | CA338881296 | ALPL | c.1118C>G (p.Thr373Ser) n.387C>G c.193C>G c.887C>G (p.Thr296Ser) c.953C>G (p.Thr318Ser) c.962C>G (p.Thr321Ser) | |
1 | g.21575853C>T | CA338881297 | ALPL | c.1118C>T (p.Thr373Ile) n.387C>T c.193C>T c.887C>T (p.Thr296Ile) c.953C>T (p.Thr318Ile) c.962C>T (p.Thr321Ile) | |
1 | g.21575854C>A | CA416533288 | ALPL | c.1119C>A (p.Thr373=) n.388C>A c.194C>A c.888C>A (p.Thr296=) c.954C>A (p.Thr318=) c.963C>A (p.Thr321=) | |
1 | g.21575854C= | CA1141262812 | ALPL | c.1119C= (p.Thr373=) n.388C= c.194C= c.888C= (p.Thr296=) c.954C= (p.Thr318=) c.963C= (p.Thr321=) | |
1 | g.21575854C>G | CA416533290 | ALPL | c.1119C>G (p.Thr373=) n.388C>G c.194C>G c.888C>G (p.Thr296=) c.954C>G (p.Thr318=) c.963C>G (p.Thr321=) | |
1 | g.21575854C>T | CA666734 | ALPL | c.1119C>T (p.Thr373=) n.388C>T c.194C>T c.888C>T (p.Thr296=) c.954C>T (p.Thr318=) c.963C>T (p.Thr321=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575855G>A | CA666735 | ALPL | c.1120G>A (p.Val374Met) n.389G>A c.195G>A c.889G>A (p.Val297Met) c.955G>A (p.Val319Met) c.964G>A (p.Val322Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.21575855G>C | CA338881302 | ALPL | c.1120G>C (p.Val374Leu) n.389G>C c.195G>C c.889G>C (p.Val297Leu) c.955G>C (p.Val319Leu) c.964G>C (p.Val322Leu) | |
1 | g.21575855G= | CA1146184802 | ALPL | c.1120G= (p.Val374=) n.389G= c.195G= c.889G= (p.Val297=) c.955G= (p.Val319=) c.964G= (p.Val322=) | |
1 | g.21575855G>T | CA338881300 | ALPL | c.1120G>T (p.Val374Leu) n.389G>T c.195G>T c.889G>T (p.Val297Leu) c.955G>T (p.Val319Leu) c.964G>T (p.Val322Leu) | gnomAD v4 |
1 | g.21575856T>A | CA338881308 | ALPL | c.1121T>A (p.Val374Glu) n.390T>A c.196T>A c.890T>A (p.Val297Glu) c.956T>A (p.Val319Glu) c.965T>A (p.Val322Glu) | |
1 | g.21575856T>C | CA338881304 | ALPL | c.1121T>C (p.Val374Ala) n.390T>C c.196T>C c.890T>C (p.Val297Ala) c.956T>C (p.Val319Ala) c.965T>C (p.Val322Ala) | |
1 | g.21575856T>G | CA338881306 | ALPL | c.1121T>G (p.Val374Gly) n.390T>G c.196T>G c.890T>G (p.Val297Gly) c.956T>G (p.Val319Gly) c.965T>G (p.Val322Gly) | |
1 | g.21575857G>A | CA666736 | ALPL | c.1122G>A (p.Val374=) n.391G>A c.197G>A c.891G>A (p.Val297=) c.957G>A (p.Val319=) c.966G>A (p.Val322=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575857G>C | CA416533306 | ALPL | c.1122G>C (p.Val374=) n.391G>C c.197G>C c.891G>C (p.Val297=) c.957G>C (p.Val319=) c.966G>C (p.Val322=) | |
1 | g.21575857G= | CA1148875596 | ALPL | c.1122G= (p.Val374=) n.391G= c.197G= c.891G= (p.Val297=) c.957G= (p.Val319=) c.966G= (p.Val322=) | |
1 | g.21575857G>T | CA416533303 | ALPL | c.1122G>T (p.Val374=) n.391G>T c.197G>T c.891G>T (p.Val297=) c.957G>T (p.Val319=) c.966G>T (p.Val322=) | |
1 | g.21575858G>A | CA338881310 | ALPL | c.1123G>A (p.Val375Ile) n.392G>A c.198G>A c.892G>A (p.Val298Ile) c.958G>A (p.Val320Ile) c.967G>A (p.Val323Ile) | |
1 | g.21575858G>C | CA338881311 | ALPL | c.1123G>C (p.Val375Leu) n.392G>C c.198G>C c.892G>C (p.Val298Leu) c.958G>C (p.Val320Leu) c.967G>C (p.Val323Leu) | |
1 | g.21575858G>T | CA338881313 | ALPL | c.1123G>T (p.Val375Phe) n.392G>T c.198G>T c.892G>T (p.Val298Phe) c.958G>T (p.Val320Phe) c.967G>T (p.Val323Phe) | |
1 | g.21575859T>A | CA338881316 | ALPL | c.1124T>A (p.Val375Asp) n.393T>A c.199T>A c.893T>A (p.Val298Asp) c.959T>A (p.Val320Asp) c.968T>A (p.Val323Asp) | |
1 | g.21575859T>C | CA19070287 | ALPL | c.1124T>C (p.Val375Ala) n.393T>C c.199T>C c.893T>C (p.Val298Ala) c.959T>C (p.Val320Ala) c.968T>C (p.Val323Ala) | dbSNP |
1 | g.21575859T>G | CA338881315 | ALPL | c.1124T>G (p.Val375Gly) n.393T>G c.199T>G c.893T>G (p.Val298Gly) c.959T>G (p.Val320Gly) c.968T>G (p.Val323Gly) | |
1 | g.21575859T= | CA1158019321 | ALPL | c.1124T= (p.Val375=) n.393T= c.199T= c.893T= (p.Val298=) c.959T= (p.Val320=) c.968T= (p.Val323=) | |
1 | g.21575860C>A | CA416533318 | ALPL | c.1125C>A (p.Val375=) n.394C>A c.200C>A c.894C>A (p.Val298=) c.960C>A (p.Val320=) c.969C>A (p.Val323=) | gnomAD v4 |
1 | g.21575860C= | CA1158019322 | ALPL | c.1125C= (p.Val375=) n.394C= c.200C= c.894C= (p.Val298=) c.960C= (p.Val320=) c.969C= (p.Val323=) | |
1 | g.21575860C>G | CA19070301 | ALPL | c.1125C>G (p.Val375=) n.394C>G c.200C>G c.894C>G (p.Val298=) c.960C>G (p.Val320=) c.969C>G (p.Val323=) | dbSNP |
1 | g.21575860C>T | CA416533315 | ALPL | c.1125C>T (p.Val375=) n.394C>T c.200C>T c.894C>T (p.Val298=) c.960C>T (p.Val320=) c.969C>T (p.Val323=) | |
1 | g.21575861A>C | CA338881318 | ALPL | c.1126A>C (p.Thr376Pro) n.395A>C c.201A>C c.895A>C (p.Thr299Pro) c.961A>C (p.Thr321Pro) c.970A>C (p.Thr324Pro) | |
1 | g.21575861A>G | CA338881320 | ALPL | c.1126A>G (p.Thr376Ala) n.395A>G c.201A>G c.895A>G (p.Thr299Ala) c.961A>G (p.Thr321Ala) c.970A>G (p.Thr324Ala) | gnomAD v4 |
1 | g.21575861A>T | CA338881322 | ALPL | c.1126A>T (p.Thr376Ser) n.395A>T c.201A>T c.895A>T (p.Thr299Ser) c.961A>T (p.Thr321Ser) c.970A>T (p.Thr324Ser) | |
1 | g.21575862C>A | CA338881324 | ALPL | c.1127C>A (p.Thr376Asn) n.396C>A c.202C>A c.896C>A (p.Thr299Asn) c.962C>A (p.Thr321Asn) c.971C>A (p.Thr324Asn) | |
1 | g.21575862C>G | CA338881325 | ALPL | c.1127C>G (p.Thr376Ser) n.396C>G c.202C>G c.896C>G (p.Thr299Ser) c.962C>G (p.Thr321Ser) c.971C>G (p.Thr324Ser) | gnomAD v4 |
1 | g.21575862C>T | CA338881327 | ALPL | c.1127C>T (p.Thr376Ile) n.396C>T c.202C>T c.896C>T (p.Thr299Ile) c.962C>T (p.Thr321Ile) c.971C>T (p.Thr324Ile) | |
1 | g.21575863T>A | CA416533330 | ALPL | c.1128T>A (p.Thr376=) n.397T>A c.203T>A c.897T>A (p.Thr299=) c.963T>A (p.Thr321=) c.972T>A (p.Thr324=) | |
1 | g.21575863T>C | CA416533327 | ALPL | c.1128T>C (p.Thr376=) n.397T>C c.203T>C c.897T>C (p.Thr299=) c.963T>C (p.Thr321=) c.972T>C (p.Thr324=) | |
1 | g.21575863T>G | CA416533331 | ALPL | c.1128T>G (p.Thr376=) n.397T>G c.203T>G c.897T>G (p.Thr299=) c.963T>G (p.Thr321=) c.972T>G (p.Thr324=) | |
1 | g.21575864G>A | CA338881329 | ALPL | c.1129G>A (p.Ala377Thr) n.398G>A c.204G>A c.898G>A (p.Ala300Thr) c.964G>A (p.Ala322Thr) c.973G>A (p.Ala325Thr) | |
1 | g.21575864G>C | CA338881333 | ALPL | c.1129G>C (p.Ala377Pro) n.398G>C c.204G>C c.898G>C (p.Ala300Pro) c.964G>C (p.Ala322Pro) c.973G>C (p.Ala325Pro) | |
1 | g.21575864G>T | CA338881331 | ALPL | c.1129G>T (p.Ala377Ser) n.398G>T c.204G>T c.898G>T (p.Ala300Ser) c.964G>T (p.Ala322Ser) c.973G>T (p.Ala325Ser) | COSMIC |
1 | g.21575865C>A | CA338881334 | ALPL | c.1130C>A (p.Ala377Glu) n.399C>A c.205C>A c.899C>A (p.Ala300Glu) c.965C>A (p.Ala322Glu) c.974C>A (p.Ala325Glu) | |
1 | g.21575865C= | CA1158019323 | ALPL | c.1130C= (p.Ala377=) n.399C= c.205C= c.899C= (p.Ala300=) c.965C= (p.Ala322=) c.974C= (p.Ala325=) | |
1 | g.21575865C>G | CA338881335 | ALPL | c.1130C>G (p.Ala377Gly) n.399C>G c.205C>G c.899C>G (p.Ala300Gly) c.965C>G (p.Ala322Gly) c.974C>G (p.Ala325Gly) | |
1 | g.21575865C>T | CA666737 | ALPL | c.1130C>T (p.Ala377Val) n.399C>T c.205C>T c.899C>T (p.Ala300Val) c.965C>T (p.Ala322Val) c.974C>T (p.Ala325Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.21575866G>A | CA666738 | ALPL | c.1131G>A (p.Ala377=) n.400G>A c.206G>A c.900G>A (p.Ala300=) c.966G>A (p.Ala322=) c.975G>A (p.Ala325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575866G>C | CA416533345 | ALPL | c.1131G>C (p.Ala377=) n.400G>C c.206G>C c.900G>C (p.Ala300=) c.966G>C (p.Ala322=) c.975G>C (p.Ala325=) | |
1 | g.21575866G= | CA1158019324 | ALPL | c.1131G= (p.Ala377=) n.400G= c.206G= c.900G= (p.Ala300=) c.966G= (p.Ala322=) c.975G= (p.Ala325=) | |
1 | g.21575866G>T | CA416533343 | ALPL | c.1131G>T (p.Ala377=) n.400G>T c.206G>T c.900G>T (p.Ala300=) c.966G>T (p.Ala322=) c.975G>T (p.Ala325=) | COSMIC |
1 | g.21575867G>A | CA338881338 | ALPL | c.1132G>A (p.Asp378Asn) n.401G>A c.207G>A c.901G>A (p.Asp301Asn) c.967G>A (p.Asp323Asn) c.976G>A (p.Asp326Asn) | |
1 | g.21575867G>C | CA338881339 | ALPL | c.1132G>C (p.Asp378His) n.401G>C c.207G>C c.901G>C (p.Asp301His) c.967G>C (p.Asp323His) c.976G>C (p.Asp326His) | ClinVar dbSNP gnomAD v4 |
1 | g.21575867G= | CA1158019325 | ALPL | c.1132G= (p.Asp378=) n.401G= c.207G= c.901G= (p.Asp301=) c.967G= (p.Asp323=) c.976G= (p.Asp326=) | |
1 | g.21575867G>T | CA338881341 | ALPL | c.1132G>T (p.Asp378Tyr) n.401G>T c.207G>T c.901G>T (p.Asp301Tyr) c.967G>T (p.Asp323Tyr) c.976G>T (p.Asp326Tyr) | ClinVar |
1 | g.21575868A= | CA1141580648 | ALPL | c.1133A= (p.Asp378=) n.402A= c.208A= c.902A= (p.Asp301=) c.968A= (p.Asp323=) c.977A= (p.Asp326=) | |
1 | g.21575868A>C | CA338881343 | ALPL | c.1133A>C (p.Asp378Ala) n.402A>C c.208A>C c.902A>C (p.Asp301Ala) c.968A>C (p.Asp323Ala) c.977A>C (p.Asp326Ala) | |
1 | g.21575868A>G | CA338881345 | ALPL | c.1133A>G (p.Asp378Gly) n.402A>G c.208A>G c.902A>G (p.Asp301Gly) c.968A>G (p.Asp323Gly) c.977A>G (p.Asp326Gly) | |
1 | g.21575868A>T | CA256928 | ALPL | c.1133A>T (p.Asp378Val) n.402A>T c.208A>T c.902A>T (p.Asp301Val) c.968A>T (p.Asp323Val) c.977A>T (p.Asp326Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575869C>A | CA338881347 | ALPL | c.1134C>A (p.Asp378Glu) n.403C>A c.209C>A c.903C>A (p.Asp301Glu) c.969C>A (p.Asp323Glu) c.978C>A (p.Asp326Glu) | |
1 | g.21575869C>G | CA338881349 | ALPL | c.1134C>G (p.Asp378Glu) n.403C>G c.209C>G c.903C>G (p.Asp301Glu) c.969C>G (p.Asp323Glu) c.978C>G (p.Asp326Glu) | |
1 | g.21575869C>T | CA416533355 | ALPL | c.1134C>T (p.Asp378=) n.403C>T c.209C>T c.903C>T (p.Asp301=) c.969C>T (p.Asp323=) c.978C>T (p.Asp326=) | gnomAD v4 |
1 | g.21575870C>A | CA338881351 | ALPL | c.1135C>A (p.His379Asn) n.404C>A c.210C>A c.904C>A (p.His302Asn) c.970C>A (p.His324Asn) c.979C>A (p.His327Asn) | |
1 | g.21575870C>G | CA338881354 | ALPL | c.1135C>G (p.His379Asp) n.404C>G c.210C>G c.904C>G (p.His302Asp) c.970C>G (p.His324Asp) c.979C>G (p.His327Asp) | |
1 | g.21575870C>T | CA338881352 | ALPL | c.1135C>T (p.His379Tyr) n.404C>T c.210C>T c.904C>T (p.His302Tyr) c.970C>T (p.His324Tyr) c.979C>T (p.His327Tyr) | |
1 | g.21575871A>C | CA338881356 | ALPL | c.1136A>C (p.His379Pro) n.405A>C c.211A>C c.905A>C (p.His302Pro) c.971A>C (p.His324Pro) c.980A>C (p.His327Pro) | |
1 | g.21575871A>G | CA338881357 | ALPL | c.1136A>G (p.His379Arg) n.405A>G c.211A>G c.905A>G (p.His302Arg) c.971A>G (p.His324Arg) c.980A>G (p.His327Arg) | |
1 | g.21575871A>T | CA338881359 | ALPL | c.1136A>T (p.His379Leu) n.405A>T c.211A>T c.905A>T (p.His302Leu) c.971A>T (p.His324Leu) c.980A>T (p.His327Leu) | |
1 | g.21575872T>A | CA338881360 | ALPL | c.1137T>A (p.His379Gln) n.406T>A c.212T>A c.906T>A (p.His302Gln) c.972T>A (p.His324Gln) c.981T>A (p.His327Gln) | |
1 | g.21575872T>C | CA19070333 | ALPL | c.1137T>C (p.His379=) n.406T>C c.212T>C c.906T>C (p.His302=) c.972T>C (p.His324=) c.981T>C (p.His327=) | ClinVar dbSNP gnomAD v4 |
1 | g.21575872T>G | CA338881362 | ALPL | c.1137T>G (p.His379Gln) n.406T>G c.212T>G c.906T>G (p.His302Gln) c.972T>G (p.His324Gln) c.981T>G (p.His327Gln) | ClinVar |
1 | g.21575872T= | CA1158019326 | ALPL | c.1137T= (p.His379=) n.406T= c.212T= c.906T= (p.His302=) c.972T= (p.His324=) c.981T= (p.His327=) | |
1 | g.21575873T>A | CA338881364 | ALPL | c.1138T>A (p.Ser380Thr) n.407T>A c.213T>A c.907T>A (p.Ser303Thr) c.973T>A (p.Ser325Thr) c.982T>A (p.Ser328Thr) | |
1 | g.21575873T>C | CA338881365 | ALPL | c.1138T>C (p.Ser380Pro) n.407T>C c.213T>C c.907T>C (p.Ser303Pro) c.973T>C (p.Ser325Pro) c.982T>C (p.Ser328Pro) | |
1 | g.21575873T>G | CA338881366 | ALPL | c.1138T>G (p.Ser380Ala) n.407T>G c.213T>G c.907T>G (p.Ser303Ala) c.973T>G (p.Ser325Ala) c.982T>G (p.Ser328Ala) | |
1 | g.21575873_21575874delinsTC | CA1158019327 | ALPL | c.1138_1139delinsTC (p.Ser380=) n.407_408delinsTC c.213_214delinsTC c.907_908delinsTC (p.Ser303=) c.973_974delinsTC (p.Ser325=) c.982_983delinsTC (p.Ser328=) | |
1 | g.21575874C>A | CA338881367 | ALPL | c.1139C>A (p.Ser380Tyr) n.408C>A c.214C>A c.908C>A (p.Ser303Tyr) c.974C>A (p.Ser325Tyr) c.983C>A (p.Ser328Tyr) | |
1 | g.21575874C= | CA1158019328 | ALPL | c.1139C= (p.Ser380=) n.408C= c.214C= c.908C= (p.Ser303=) c.974C= (p.Ser325=) c.983C= (p.Ser328=) | |
1 | g.21575874C>G | CA338881369 | ALPL | c.1139C>G (p.Ser380Cys) n.408C>G c.214C>G c.908C>G (p.Ser303Cys) c.974C>G (p.Ser325Cys) c.983C>G (p.Ser328Cys) | |
1 | g.21575874C>T | CA338881370 | ALPL | c.1139C>T (p.Ser380Phe) n.408C>T c.214C>T c.908C>T (p.Ser303Phe) c.974C>T (p.Ser325Phe) c.983C>T (p.Ser328Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575876del | CA666739 | ALPL | c.1141del (p.His381ThrfsTer22) n.410del c.216del c.910del (p.His304ThrfsTer22) c.976del (p.His326ThrfsTer22) c.985del (p.His329ThrfsTer22) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575875C>A | CA416533377 | ALPL | c.1140C>A (p.Ser380=) n.409C>A c.215C>A c.909C>A (p.Ser303=) c.975C>A (p.Ser325=) c.984C>A (p.Ser328=) | |
1 | g.21575875C>G | CA416533380 | ALPL | c.1140C>G (p.Ser380=) n.409C>G c.215C>G c.909C>G (p.Ser303=) c.975C>G (p.Ser325=) c.984C>G (p.Ser328=) | |
1 | g.21575875C>T | CA416533379 | ALPL | c.1140C>T (p.Ser380=) n.409C>T c.215C>T c.909C>T (p.Ser303=) c.975C>T (p.Ser325=) c.984C>T (p.Ser328=) | |
1 | g.21575876C>A | CA338881374 | ALPL | c.1141C>A (p.His381Asn) n.410C>A c.216C>A c.910C>A (p.His304Asn) c.976C>A (p.His326Asn) c.985C>A (p.His329Asn) | |
1 | g.21575876C>G | CA338881372 | ALPL | c.1141C>G (p.His381Asp) n.410C>G c.216C>G c.910C>G (p.His304Asp) c.976C>G (p.His326Asp) c.985C>G (p.His329Asp) | |
1 | g.21575876C>T | CA338881371 | ALPL | c.1141C>T (p.His381Tyr) n.410C>T c.216C>T c.910C>T (p.His304Tyr) c.976C>T (p.His326Tyr) c.985C>T (p.His329Tyr) | |
1 | g.21575877A= | CA1158019329 | ALPL | c.1142A= (p.His381=) n.411A= c.217A= c.911A= (p.His304=) c.977A= (p.His326=) c.986A= (p.His329=) | |
1 | g.21575877A>C | CA338881375 | ALPL | c.1142A>C (p.His381Pro) n.411A>C c.217A>C c.911A>C (p.His304Pro) c.977A>C (p.His326Pro) c.986A>C (p.His329Pro) | |
1 | g.21575877A>G | CA338881377 | ALPL | c.1142A>G (p.His381Arg) n.411A>G c.217A>G c.911A>G (p.His304Arg) c.977A>G (p.His326Arg) c.986A>G (p.His329Arg) | ClinVar dbSNP |
1 | g.21575877A>T | CA338881378 | ALPL | c.1142A>T (p.His381Leu) n.411A>T c.217A>T c.911A>T (p.His304Leu) c.977A>T (p.His326Leu) c.986A>T (p.His329Leu) | |
1 | g.21575878C>A | CA338881380 | ALPL | c.1143C>A (p.His381Gln) n.412C>A c.218C>A c.912C>A (p.His304Gln) c.978C>A (p.His326Gln) c.987C>A (p.His329Gln) | |
1 | g.21575878C= | CA1149115573 | ALPL | c.1143C= (p.His381=) n.412C= c.218C= c.912C= (p.His304=) c.978C= (p.His326=) c.987C= (p.His329=) | |
1 | g.21575878C>G | CA338881382 | ALPL | c.1143C>G (p.His381Gln) n.412C>G c.218C>G c.912C>G (p.His304Gln) c.978C>G (p.His326Gln) c.987C>G (p.His329Gln) | ClinVar dbSNP |
1 | g.21575878C>T | CA666740 | ALPL | c.1143C>T (p.His381=) n.412C>T c.218C>T c.912C>T (p.His304=) c.978C>T (p.His326=) c.987C>T (p.His329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575879G>A | CA666741 | ALPL | c.1144G>A (p.Val382Ile) n.413G>A c.219G>A c.913G>A (p.Val305Ile) c.979G>A (p.Val327Ile) c.988G>A (p.Val330Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.21575879G>C | CA338881384 | ALPL | c.1144G>C (p.Val382Leu) n.413G>C c.219G>C c.913G>C (p.Val305Leu) c.979G>C (p.Val327Leu) c.988G>C (p.Val330Leu) | ClinVar |
1 | g.21575879G= | CA1158019330 | ALPL | c.1144G= (p.Val382=) n.413G= c.219G= c.913G= (p.Val305=) c.979G= (p.Val327=) c.988G= (p.Val330=) | |
1 | g.21575879G>T | CA338881386 | ALPL | c.1144G>T (p.Val382Phe) n.413G>T c.219G>T c.913G>T (p.Val305Phe) c.979G>T (p.Val327Phe) c.988G>T (p.Val330Phe) | |
1 | g.21575880T>A | CA338881388 | ALPL | c.1145T>A (p.Val382Asp) n.414T>A c.220T>A c.914T>A (p.Val305Asp) c.980T>A (p.Val327Asp) c.989T>A (p.Val330Asp) | ClinVar dbSNP |
1 | g.21575880T>C | CA338881390 | ALPL | c.1145T>C (p.Val382Ala) n.414T>C c.220T>C c.914T>C (p.Val305Ala) c.980T>C (p.Val327Ala) c.989T>C (p.Val330Ala) | |
1 | g.21575880T>G | CA338881392 | ALPL | c.1145T>G (p.Val382Gly) n.414T>G c.220T>G c.914T>G (p.Val305Gly) c.980T>G (p.Val327Gly) c.989T>G (p.Val330Gly) | |
1 | g.21575881C>A | CA416533398 | ALPL | c.1146C>A (p.Val382=) n.415C>A c.221C>A c.915C>A (p.Val305=) c.981C>A (p.Val327=) c.990C>A (p.Val330=) | |
1 | g.21575881C>G | CA416533400 | ALPL | c.1146C>G (p.Val382=) n.415C>G c.221C>G c.915C>G (p.Val305=) c.981C>G (p.Val327=) c.990C>G (p.Val330=) | |
1 | g.21575881C>T | CA416533402 | ALPL | c.1146C>T (p.Val382=) n.415C>T c.221C>T c.915C>T (p.Val305=) c.981C>T (p.Val327=) c.990C>T (p.Val330=) | |
1 | g.21575882T>A | CA338881397 | ALPL | c.1147T>A (p.Phe383Ile) n.416T>A c.222T>A c.916T>A (p.Phe306Ile) c.982T>A (p.Phe328Ile) c.991T>A (p.Phe331Ile) | |
1 | g.21575882T>C | CA338881395 | ALPL | c.1147T>C (p.Phe383Leu) n.416T>C c.222T>C c.916T>C (p.Phe306Leu) c.982T>C (p.Phe328Leu) c.991T>C (p.Phe331Leu) | |
1 | g.21575882T>G | CA338881394 | ALPL | c.1147T>G (p.Phe383Val) n.416T>G c.222T>G c.916T>G (p.Phe306Val) c.982T>G (p.Phe328Val) c.991T>G (p.Phe331Val) | |
1 | g.21575882_21575885dup | CA2643931723 | ALPL | c.1147_1150dup (p.Thr384IlefsTer22) n.416_419dup c.222_225dup c.916_919dup (p.Thr307IlefsTer22) c.982_985dup (p.Thr329IlefsTer22) c.991_994dup (p.Thr332IlefsTer22) | gnomAD v4 |
1 | g.21575883T>A | CA338881399 | ALPL | c.1148T>A (p.Phe383Tyr) n.417T>A c.223T>A c.917T>A (p.Phe306Tyr) c.983T>A (p.Phe328Tyr) c.992T>A (p.Phe331Tyr) | |
1 | g.21575883T>C | CA338881402 | ALPL | c.1148T>C (p.Phe383Ser) n.417T>C c.223T>C c.917T>C (p.Phe306Ser) c.983T>C (p.Phe328Ser) c.992T>C (p.Phe331Ser) | |
1 | g.21575883T>G | CA338881401 | ALPL | c.1148T>G (p.Phe383Cys) n.417T>G c.223T>G c.917T>G (p.Phe306Cys) c.983T>G (p.Phe328Cys) c.992T>G (p.Phe331Cys) | |
1 | g.21575884C>A | CA338881404 | ALPL | c.1149C>A (p.Phe383Leu) n.418C>A c.224C>A c.918C>A (p.Phe306Leu) c.984C>A (p.Phe328Leu) c.993C>A (p.Phe331Leu) | |
1 | g.21575884C>G | CA338881406 | ALPL | c.1149C>G (p.Phe383Leu) n.418C>G c.224C>G c.918C>G (p.Phe306Leu) c.984C>G (p.Phe328Leu) c.993C>G (p.Phe331Leu) | |
1 | g.21575884C>T | CA416533413 | ALPL | c.1149C>T (p.Phe383=) n.418C>T c.224C>T c.918C>T (p.Phe306=) c.984C>T (p.Phe328=) c.993C>T (p.Phe331=) | |
1 | g.21575885A>C | CA338881407 | ALPL | c.1150A>C (p.Thr384Pro) n.419A>C c.225A>C c.919A>C (p.Thr307Pro) c.985A>C (p.Thr329Pro) c.994A>C (p.Thr332Pro) | |
1 | g.21575885A>G | CA338881408 | ALPL | c.1150A>G (p.Thr384Ala) n.419A>G c.225A>G c.919A>G (p.Thr307Ala) c.985A>G (p.Thr329Ala) c.994A>G (p.Thr332Ala) | |
1 | g.21575885A>T | CA338881411 | ALPL | c.1150A>T (p.Thr384Ser) n.419A>T c.225A>T c.919A>T (p.Thr307Ser) c.985A>T (p.Thr329Ser) c.994A>T (p.Thr332Ser) | |
1 | g.21575886C>A | CA338881413 | ALPL | c.1151C>A (p.Thr384Lys) n.420C>A c.226C>A c.920C>A (p.Thr307Lys) c.986C>A (p.Thr329Lys) c.995C>A (p.Thr332Lys) | |
1 | g.21575886C>G | CA338881414 | ALPL | c.1151C>G (p.Thr384Arg) n.420C>G c.226C>G c.920C>G (p.Thr307Arg) c.986C>G (p.Thr329Arg) c.995C>G (p.Thr332Arg) | ClinVar |
1 | g.21575886C>T | CA338881415 | ALPL | c.1151C>T (p.Thr384Ile) n.420C>T c.226C>T c.920C>T (p.Thr307Ile) c.986C>T (p.Thr329Ile) c.995C>T (p.Thr332Ile) | ClinVar dbSNP |
1 | g.21575887A= | CA1158019331 | ALPL | c.1152A= (p.Thr384=) n.421A= c.227A= c.921A= (p.Thr307=) c.987A= (p.Thr329=) c.996A= (p.Thr332=) | |
1 | g.21575887A>C | CA416533424 | ALPL | c.1152A>C (p.Thr384=) n.421A>C c.227A>C c.921A>C (p.Thr307=) c.987A>C (p.Thr329=) c.996A>C (p.Thr332=) | gnomAD v4 |
1 | g.21575887A>G | CA416533426 | ALPL | c.1152A>G (p.Thr384=) n.421A>G c.227A>G c.921A>G (p.Thr307=) c.987A>G (p.Thr329=) c.996A>G (p.Thr332=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575887A>T | CA416533422 | ALPL | c.1152A>T (p.Thr384=) n.421A>T c.227A>T c.921A>T (p.Thr307=) c.987A>T (p.Thr329=) c.996A>T (p.Thr332=) | ClinVar dbSNP gnomAD v4 |
1 | g.21575888T>A | CA338881417 | ALPL | c.1153T>A (p.Phe385Ile) n.422T>A c.228T>A c.922T>A (p.Phe308Ile) c.988T>A (p.Phe330Ile) c.997T>A (p.Phe333Ile) | |
1 | g.21575888T>C | CA338881419 | ALPL | c.1153T>C (p.Phe385Leu) n.422T>C c.228T>C c.922T>C (p.Phe308Leu) c.988T>C (p.Phe330Leu) c.997T>C (p.Phe333Leu) | |
1 | g.21575888T>G | CA338881421 | ALPL | c.1153T>G (p.Phe385Val) n.422T>G c.228T>G c.922T>G (p.Phe308Val) c.988T>G (p.Phe330Val) c.997T>G (p.Phe333Val) | |
1 | g.21575889T>A | CA338881425 | ALPL | c.1154T>A (p.Phe385Tyr) n.423T>A c.229T>A c.923T>A (p.Phe308Tyr) c.989T>A (p.Phe330Tyr) c.998T>A (p.Phe333Tyr) | |
1 | g.21575889T>C | CA338881422 | ALPL | c.1154T>C (p.Phe385Ser) n.423T>C c.229T>C c.923T>C (p.Phe308Ser) c.989T>C (p.Phe330Ser) c.998T>C (p.Phe333Ser) | |
1 | g.21575889T>G | CA338881423 | ALPL | c.1154T>G (p.Phe385Cys) n.423T>G c.229T>G c.923T>G (p.Phe308Cys) c.989T>G (p.Phe330Cys) c.998T>G (p.Phe333Cys) | |
1 | g.21575890T>A | CA338881427 | ALPL | c.1155T>A (p.Phe385Leu) n.424T>A c.230T>A c.924T>A (p.Phe308Leu) c.990T>A (p.Phe330Leu) c.999T>A (p.Phe333Leu) | |
1 | g.21575890T>C | CA416533435 | ALPL | c.1155T>C (p.Phe385=) n.424T>C c.230T>C c.924T>C (p.Phe308=) c.990T>C (p.Phe330=) c.999T>C (p.Phe333=) | |
1 | g.21575890T>G | CA338881428 | ALPL | c.1155T>G (p.Phe385Leu) n.424T>G c.230T>G c.924T>G (p.Phe308Leu) c.990T>G (p.Phe330Leu) c.999T>G (p.Phe333Leu) | |
1 | g.21575891G>A | CA338881430 | ALPL | c.1156G>A (p.Gly386Ser) n.425G>A c.231G>A c.925G>A (p.Gly309Ser) c.991G>A (p.Gly331Ser) c.1000G>A (p.Gly334Ser) | |
1 | g.21575891G>C | CA338881432 | ALPL | c.1156G>C (p.Gly386Arg) n.425G>C c.231G>C c.925G>C (p.Gly309Arg) c.991G>C (p.Gly331Arg) c.1000G>C (p.Gly334Arg) | |
1 | g.21575891G>T | CA338881434 | ALPL | c.1156G>T (p.Gly386Cys) n.425G>T c.231G>T c.925G>T (p.Gly309Cys) c.991G>T (p.Gly331Cys) c.1000G>T (p.Gly334Cys) | gnomAD v4 |
1 | g.21575892G>A | CA338881435 | ALPL | c.1157G>A (p.Gly386Asp) n.426G>A c.232G>A c.926G>A (p.Gly309Asp) c.992G>A (p.Gly331Asp) c.1001G>A (p.Gly334Asp) | ClinVar |
1 | g.21575892G>C | CA338881437 | ALPL | c.1157G>C (p.Gly386Ala) n.426G>C c.232G>C c.926G>C (p.Gly309Ala) c.992G>C (p.Gly331Ala) c.1001G>C (p.Gly334Ala) | |
1 | g.21575892G>T | CA338881439 | ALPL | c.1157G>T (p.Gly386Val) n.426G>T c.232G>T c.926G>T (p.Gly309Val) c.992G>T (p.Gly331Val) c.1001G>T (p.Gly334Val) | |
1 | g.21575893T>A | CA416533445 | ALPL | c.1158T>A (p.Gly386=) n.427T>A c.233T>A c.927T>A (p.Gly309=) c.993T>A (p.Gly331=) c.1002T>A (p.Gly334=) | |
1 | g.21575893T>C | CA416533447 | ALPL | c.1158T>C (p.Gly386=) n.427T>C c.233T>C c.927T>C (p.Gly309=) c.993T>C (p.Gly331=) c.1002T>C (p.Gly334=) | |
1 | g.21575893T>G | CA416533449 | ALPL | c.1158T>G (p.Gly386=) n.427T>G c.233T>G c.927T>G (p.Gly309=) c.993T>G (p.Gly331=) c.1002T>G (p.Gly334=) | dbSNP gnomAD v4 |
1 | g.21575893T= | CA1158019332 | ALPL | c.1158T= (p.Gly386=) n.427T= c.233T= c.927T= (p.Gly309=) c.993T= (p.Gly331=) c.1002T= (p.Gly334=) | |
1 | g.21575894G>A | CA19070354 | ALPL | c.1159G>A (p.Gly387Arg) n.428G>A c.234G>A c.928G>A (p.Gly310Arg) c.994G>A (p.Gly332Arg) c.1003G>A (p.Gly335Arg) | dbSNP COSMIC |
1 | g.21575894G>C | CA338881441 | ALPL | c.1159G>C (p.Gly387Arg) n.428G>C c.234G>C c.928G>C (p.Gly310Arg) c.994G>C (p.Gly332Arg) c.1003G>C (p.Gly335Arg) | |
1 | g.21575894G= | CA1142373864 | ALPL | c.1159G= (p.Gly387=) n.428G= c.234G= c.928G= (p.Gly310=) c.994G= (p.Gly332=) c.1003G= (p.Gly335=) | |
1 | g.21575894G>T | CA338881442 | ALPL | c.1159G>T (p.Gly387Ter) n.428G>T c.234G>T c.928G>T (p.Gly310Ter) c.994G>T (p.Gly332Ter) c.1003G>T (p.Gly335Ter) | |
1 | g.21575895G>A | CA338881445 | ALPL | c.1160G>A (p.Gly387Glu) n.429G>A c.235G>A c.929G>A (p.Gly310Glu) c.995G>A (p.Gly332Glu) c.1004G>A (p.Gly335Glu) | |
1 | g.21575895G>C | CA338881447 | ALPL | c.1160G>C (p.Gly387Ala) n.429G>C c.235G>C c.929G>C (p.Gly310Ala) c.995G>C (p.Gly332Ala) c.1004G>C (p.Gly335Ala) | |
1 | g.21575895G>T | CA338881444 | ALPL | c.1160G>T (p.Gly387Val) n.429G>T c.235G>T c.929G>T (p.Gly310Val) c.995G>T (p.Gly332Val) c.1004G>T (p.Gly335Val) | |
1 | g.21575896A>C | CA416533451 | ALPL | c.1161A>C (p.Gly387=) n.430A>C c.236A>C c.930A>C (p.Gly310=) c.996A>C (p.Gly332=) c.1005A>C (p.Gly335=) | |
1 | g.21575896A>G | CA416533452 | ALPL | c.1161A>G (p.Gly387=) n.430A>G c.236A>G c.930A>G (p.Gly310=) c.996A>G (p.Gly332=) c.1005A>G (p.Gly335=) | ClinVar gnomAD v4 |
1 | g.21575896A>T | CA416533454 | ALPL | c.1161A>T (p.Gly387=) n.430A>T c.236A>T c.930A>T (p.Gly310=) c.996A>T (p.Gly332=) c.1005A>T (p.Gly335=) | |
1 | g.21575897T>A | CA338881448 | ALPL | c.1162T>A (p.Tyr388Asn) n.431T>A c.237T>A c.931T>A (p.Tyr311Asn) c.997T>A (p.Tyr333Asn) c.1006T>A (p.Tyr336Asn) | |
1 | g.21575897T>C | CA338881450 | ALPL | c.1162T>C (p.Tyr388His) n.431T>C c.237T>C c.931T>C (p.Tyr311His) c.997T>C (p.Tyr333His) c.1006T>C (p.Tyr336His) | ClinVar dbSNP gnomAD v4 |
1 | g.21575897T>G | CA338881452 | ALPL | c.1162T>G (p.Tyr388Asp) n.431T>G c.237T>G c.931T>G (p.Tyr311Asp) c.997T>G (p.Tyr333Asp) c.1006T>G (p.Tyr336Asp) | ClinVar |
1 | g.21575897T= | CA1158019333 | ALPL | c.1162T= (p.Tyr388=) n.431T= c.237T= c.931T= (p.Tyr311=) c.997T= (p.Tyr333=) c.1006T= (p.Tyr336=) | |
1 | g.21575898A= | CA1158019334 | ALPL | c.1163A= (p.Tyr388=) n.432A= c.238A= c.932A= (p.Tyr311=) c.998A= (p.Tyr333=) c.1007A= (p.Tyr336=) | |
1 | g.21575898A>C | CA338881454 | ALPL | c.1163A>C (p.Tyr388Ser) n.432A>C c.238A>C c.932A>C (p.Tyr311Ser) c.998A>C (p.Tyr333Ser) c.1007A>C (p.Tyr336Ser) | |
1 | g.21575898A>G | CA338881455 | ALPL | c.1163A>G (p.Tyr388Cys) n.432A>G c.238A>G c.932A>G (p.Tyr311Cys) c.998A>G (p.Tyr333Cys) c.1007A>G (p.Tyr336Cys) | ClinVar dbSNP |
1 | g.21575898A>T | CA338881456 | ALPL | c.1163A>T (p.Tyr388Phe) n.432A>T c.238A>T c.932A>T (p.Tyr311Phe) c.998A>T (p.Tyr333Phe) c.1007A>T (p.Tyr336Phe) | |
1 | g.21575899C>A | CA338881459 | ALPL | c.1164C>A (p.Tyr388Ter) n.433C>A c.239C>A c.933C>A (p.Tyr311Ter) c.999C>A (p.Tyr333Ter) c.1008C>A (p.Tyr336Ter) | ClinVar dbSNP |
1 | g.21575899C>G | CA338881461 | ALPL | c.1164C>G (p.Tyr388Ter) n.433C>G c.239C>G c.933C>G (p.Tyr311Ter) c.999C>G (p.Tyr333Ter) c.1008C>G (p.Tyr336Ter) | |
1 | g.21575899C>T | CA416533463 | ALPL | c.1164C>T (p.Tyr388=) n.433C>T c.239C>T c.933C>T (p.Tyr311=) c.999C>T (p.Tyr333=) c.1008C>T (p.Tyr336=) | |
1 | g.21575900A= | CA1158019336 | ALPL | c.1165A= (p.Thr389=) n.434A= c.240A= c.934A= (p.Thr312=) c.1000A= (p.Thr334=) c.1009A= (p.Thr337=) | |
1 | g.21575900A>C | CA338881462 | ALPL | c.1165A>C (p.Thr389Pro) n.434A>C c.240A>C c.934A>C (p.Thr312Pro) c.1000A>C (p.Thr334Pro) c.1009A>C (p.Thr337Pro) | ClinVar |
1 | g.21575900A>G | CA666744 | ALPL | c.1165A>G (p.Thr389Ala) n.434A>G c.240A>G c.934A>G (p.Thr312Ala) c.1000A>G (p.Thr334Ala) c.1009A>G (p.Thr337Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575900A>T | CA338881465 | ALPL | c.1165A>T (p.Thr389Ser) n.434A>T c.240A>T c.934A>T (p.Thr312Ser) c.1000A>T (p.Thr334Ser) c.1009A>T (p.Thr337Ser) | |
1 | g.21575900_21575901delinsAC | CA1158019335 | ALPL | c.1165_1166delinsAC (p.Thr389=) n.434_435delinsAC c.240_241delinsAC c.934_935delinsAC (p.Thr312=) c.1000_1001delinsAC (p.Thr334=) c.1009_1010delinsAC (p.Thr337=) | |
1 | g.21575901C>A | CA666745 | ALPL | c.1166C>A (p.Thr389Asn) n.435C>A c.241C>A c.935C>A (p.Thr312Asn) c.1001C>A (p.Thr334Asn) c.1010C>A (p.Thr337Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575901C= | CA1148306658 | ALPL | c.1166C= (p.Thr389=) n.435C= c.241C= c.935C= (p.Thr312=) c.1001C= (p.Thr334=) c.1010C= (p.Thr337=) | |
1 | g.21575901C>G | CA338881471 | ALPL | c.1166C>G (p.Thr389Ser) n.435C>G c.241C>G c.935C>G (p.Thr312Ser) c.1001C>G (p.Thr334Ser) c.1010C>G (p.Thr337Ser) | ClinVar dbSNP |
1 | g.21575901C>T | CA338881467 | ALPL | c.1166C>T (p.Thr389Ile) n.435C>T c.241C>T c.935C>T (p.Thr312Ile) c.1001C>T (p.Thr334Ile) c.1010C>T (p.Thr337Ile) | gnomAD v4 |
1 | g.21575906dup | CA666743 | ALPL | c.1171dup (p.Arg391ProfsTer14) n.440dup c.246dup c.940dup (p.Arg314ProfsTer14) c.1006dup (p.Arg336ProfsTer14) c.1015dup (p.Arg339ProfsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575906del | CA666742 | ALPL | c.1171del (p.Arg391ValfsTer12) n.440del c.246del c.940del (p.Arg314ValfsTer12) c.1006del (p.Arg336ValfsTer12) c.1015del (p.Arg339ValfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.21575902C>A | CA416533478 | ALPL | c.1167C>A (p.Thr389=) n.436C>A c.242C>A c.936C>A (p.Thr312=) c.1002C>A (p.Thr334=) c.1011C>A (p.Thr337=) | gnomAD v4 |
1 | g.21575902C= | CA1158019337 | ALPL | c.1167C= (p.Thr389=) n.436C= c.242C= c.936C= (p.Thr312=) c.1002C= (p.Thr334=) c.1011C= (p.Thr337=) | |
1 | g.21575902C>G | CA416533477 | ALPL | c.1167C>G (p.Thr389=) n.436C>G c.242C>G c.936C>G (p.Thr312=) c.1002C>G (p.Thr334=) c.1011C>G (p.Thr337=) | |
1 | g.21575902C>T | CA666746 | ALPL | c.1167C>T (p.Thr389=) n.436C>T c.242C>T c.936C>T (p.Thr312=) c.1002C>T (p.Thr334=) c.1011C>T (p.Thr337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575903C>A | CA338881473 | ALPL | c.1168C>A (p.Pro390Thr) n.437C>A c.243C>A c.937C>A (p.Pro313Thr) c.1003C>A (p.Pro335Thr) c.1012C>A (p.Pro338Thr) | dbSNP gnomAD v4 |
1 | g.21575903C= | CA1158019338 | ALPL | c.1168C= (p.Pro390=) n.437C= c.243C= c.937C= (p.Pro313=) c.1003C= (p.Pro335=) c.1012C= (p.Pro338=) | |
1 | g.21575903C>G | CA338881475 | ALPL | c.1168C>G (p.Pro390Ala) n.437C>G c.243C>G c.937C>G (p.Pro313Ala) c.1003C>G (p.Pro335Ala) c.1012C>G (p.Pro338Ala) | |
1 | g.21575903C>T | CA338881476 | ALPL | c.1168C>T (p.Pro390Ser) n.437C>T c.243C>T c.937C>T (p.Pro313Ser) c.1003C>T (p.Pro335Ser) c.1012C>T (p.Pro338Ser) | |
1 | g.21575904C>A | CA19070384 | ALPL | c.1169C>A (p.Pro390His) n.438C>A c.244C>A c.938C>A (p.Pro313His) c.1004C>A (p.Pro335His) c.1013C>A (p.Pro338His) | dbSNP gnomAD v4 |
1 | g.21575904C= | CA1158019339 | ALPL | c.1169C= (p.Pro390=) n.438C= c.244C= c.938C= (p.Pro313=) c.1004C= (p.Pro335=) c.1013C= (p.Pro338=) | |
1 | g.21575904C>G | CA338881479 | ALPL | c.1169C>G (p.Pro390Arg) n.438C>G c.244C>G c.938C>G (p.Pro313Arg) c.1004C>G (p.Pro335Arg) c.1013C>G (p.Pro338Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575904C>T | CA338881478 | ALPL | c.1169C>T (p.Pro390Leu) n.438C>T c.244C>T c.938C>T (p.Pro313Leu) c.1004C>T (p.Pro335Leu) c.1013C>T (p.Pro338Leu) | gnomAD v4 COSMIC |
1 | g.21575905C>A | CA416533484 | ALPL | c.1170C>A (p.Pro390=) n.439C>A c.245C>A c.939C>A (p.Pro313=) c.1005C>A (p.Pro335=) c.1014C>A (p.Pro338=) | |
1 | g.21575905C= | CA1158019340 | ALPL | c.1170C= (p.Pro390=) n.439C= c.245C= c.939C= (p.Pro313=) c.1005C= (p.Pro335=) c.1014C= (p.Pro338=) | |
1 | g.21575905C>G | CA416533486 | ALPL | c.1170C>G (p.Pro390=) n.439C>G c.245C>G c.939C>G (p.Pro313=) c.1005C>G (p.Pro335=) c.1014C>G (p.Pro338=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575905C>T | CA416533489 | ALPL | c.1170C>T (p.Pro390=) n.439C>T c.245C>T c.939C>T (p.Pro313=) c.1005C>T (p.Pro335=) c.1014C>T (p.Pro338=) | COSMIC |
1 | g.21575906C>A | CA338881482 | ALPL | c.1171C>A (p.Arg391Ser) n.440C>A c.246C>A c.940C>A (p.Arg314Ser) c.1006C>A (p.Arg336Ser) c.1015C>A (p.Arg339Ser) | ClinVar |
1 | g.21575906C= | CA1143782795 | ALPL | c.1171C= (p.Arg391=) n.440C= c.246C= c.940C= (p.Arg314=) c.1006C= (p.Arg336=) c.1015C= (p.Arg339=) | |
1 | g.21575906C>G | CA338881484 | ALPL | c.1171C>G (p.Arg391Gly) n.440C>G c.246C>G c.940C>G (p.Arg314Gly) c.1006C>G (p.Arg336Gly) c.1015C>G (p.Arg339Gly) | |
1 | g.21575906C>T | CA666747 | ALPL | c.1171C>T (p.Arg391Cys) n.440C>T c.246C>T c.940C>T (p.Arg314Cys) c.1006C>T (p.Arg336Cys) c.1015C>T (p.Arg339Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575907del | CA2643931724 | ALPL | c.1172del (p.Arg391LeufsTer12) n.441del c.247del c.941del (p.Arg314LeufsTer12) c.1007del (p.Arg336LeufsTer12) c.1016del (p.Arg339LeufsTer12) | gnomAD v4 |
1 | g.21575907G>A | CA338881485 | ALPL | c.1172G>A (p.Arg391His) n.441G>A c.247G>A c.941G>A (p.Arg314His) c.1007G>A (p.Arg336His) c.1016G>A (p.Arg339His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575907G>C | CA338881487 | ALPL | c.1172G>C (p.Arg391Pro) n.441G>C c.247G>C c.941G>C (p.Arg314Pro) c.1007G>C (p.Arg336Pro) c.1016G>C (p.Arg339Pro) | |
1 | g.21575907G= | CA1158019341 | ALPL | c.1172G= (p.Arg391=) n.441G= c.247G= c.941G= (p.Arg314=) c.1007G= (p.Arg336=) c.1016G= (p.Arg339=) | |
1 | g.21575907G>T | CA338881489 | ALPL | c.1172G>T (p.Arg391Leu) n.441G>T c.247G>T c.941G>T (p.Arg314Leu) c.1007G>T (p.Arg336Leu) c.1016G>T (p.Arg339Leu) | |
1 | g.21575908T>A | CA416533499 | ALPL | c.1173T>A (p.Arg391=) n.442T>A c.248T>A c.942T>A (p.Arg314=) c.1008T>A (p.Arg336=) c.1017T>A (p.Arg339=) | |
1 | g.21575908T>C | CA416533501 | ALPL | c.1173T>C (p.Arg391=) n.442T>C c.248T>C c.942T>C (p.Arg314=) c.1008T>C (p.Arg336=) c.1017T>C (p.Arg339=) | ClinVar dbSNP |
1 | g.21575908T>G | CA416533497 | ALPL | c.1173T>G (p.Arg391=) n.442T>G c.248T>G c.942T>G (p.Arg314=) c.1008T>G (p.Arg336=) c.1017T>G (p.Arg339=) | |
1 | g.21575909G>A | CA338881493 | ALPL | c.1174G>A (p.Gly392Ser) n.443G>A c.249G>A c.943G>A (p.Gly315Ser) c.1009G>A (p.Gly337Ser) c.1018G>A (p.Gly340Ser) | ClinVar dbSNP |
1 | g.21575909G>C | CA338881492 | ALPL | c.1174G>C (p.Gly392Arg) n.443G>C c.249G>C c.943G>C (p.Gly315Arg) c.1009G>C (p.Gly337Arg) c.1018G>C (p.Gly340Arg) | |
1 | g.21575909G= | CA1158019342 | ALPL | c.1174G= (p.Gly392=) n.443G= c.249G= c.943G= (p.Gly315=) c.1009G= (p.Gly337=) c.1018G= (p.Gly340=) | |
1 | g.21575909G>T | CA338881491 | ALPL | c.1174G>T (p.Gly392Cys) n.443G>T c.249G>T c.943G>T (p.Gly315Cys) c.1009G>T (p.Gly337Cys) c.1018G>T (p.Gly340Cys) | |
1 | g.21575910G>A | CA338881495 | ALPL | c.1175G>A (p.Gly392Asp) n.444G>A c.250G>A c.944G>A (p.Gly315Asp) c.1010G>A (p.Gly337Asp) c.1019G>A (p.Gly340Asp) | dbSNP gnomAD v2 |
1 | g.21575910G>C | CA338881499 | ALPL | c.1175G>C (p.Gly392Ala) n.444G>C c.250G>C c.944G>C (p.Gly315Ala) c.1010G>C (p.Gly337Ala) c.1019G>C (p.Gly340Ala) | gnomAD v4 |
1 | g.21575910G= | CA1158019343 | ALPL | c.1175G= (p.Gly392=) n.444G= c.250G= c.944G= (p.Gly315=) c.1010G= (p.Gly337=) c.1019G= (p.Gly340=) | |
1 | g.21575910G>T | CA338881497 | ALPL | c.1175G>T (p.Gly392Val) n.444G>T c.250G>T c.944G>T (p.Gly315Val) c.1010G>T (p.Gly337Val) c.1019G>T (p.Gly340Val) | |
1 | g.21575911C>A | CA416533509 | ALPL | c.1176C>A (p.Gly392=) n.445C>A c.251C>A c.945C>A (p.Gly315=) c.1011C>A (p.Gly337=) c.1020C>A (p.Gly340=) | |
1 | g.21575911C= | CA1144082189 | ALPL | c.1176C= (p.Gly392=) n.445C= c.251C= c.945C= (p.Gly315=) c.1011C= (p.Gly337=) c.1020C= (p.Gly340=) | |
1 | g.21575911C>G | CA666748 | ALPL | c.1176C>G (p.Gly392=) n.445C>G c.251C>G c.945C>G (p.Gly315=) c.1011C>G (p.Gly337=) c.1020C>G (p.Gly340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575911C>T | CA416533511 | ALPL | c.1176C>T (p.Gly392=) n.445C>T c.251C>T c.945C>T (p.Gly315=) c.1011C>T (p.Gly337=) c.1020C>T (p.Gly340=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21575912A>C | CA338881503 | ALPL | c.1177A>C (p.Asn393His) n.446A>C c.252A>C c.946A>C (p.Asn316His) c.1012A>C (p.Asn338His) c.1021A>C (p.Asn341His) | |
1 | g.21575912A>G | CA338881502 | ALPL | c.1177A>G (p.Asn393Asp) n.446A>G c.252A>G c.946A>G (p.Asn316Asp) c.1012A>G (p.Asn338Asp) c.1021A>G (p.Asn341Asp) | |
1 | g.21575912A>T | CA338881504 | ALPL | c.1177A>T (p.Asn393Tyr) n.446A>T c.252A>T c.946A>T (p.Asn316Tyr) c.1012A>T (p.Asn338Tyr) c.1021A>T (p.Asn341Tyr) | |
1 | g.21575913A>C | CA338881506 | ALPL | c.1178A>C (p.Asn393Thr) n.447A>C c.253A>C c.947A>C (p.Asn316Thr) c.1013A>C (p.Asn338Thr) c.1022A>C (p.Asn341Thr) | |
1 | g.21575913A>G | CA338881507 | ALPL | c.1178A>G (p.Asn393Ser) n.447A>G c.253A>G c.947A>G (p.Asn316Ser) c.1013A>G (p.Asn338Ser) c.1022A>G (p.Asn341Ser) | |
1 | g.21575913A>T | CA338881508 | ALPL | c.1178A>T (p.Asn393Ile) n.447A>T c.253A>T c.947A>T (p.Asn316Ile) c.1013A>T (p.Asn338Ile) c.1022A>T (p.Asn341Ile) | |
1 | g.21575913_21575915del | CA913072856 | ALPL | c.1178_1180del (p.Asn393_Ser394delinsThr) n.447_449del c.253_255del c.947_949del (p.Asn316_Ser317delinsThr) c.1013_1015del (p.Asn338_Ser339delinsThr) c.1022_1024del (p.Asn341_Ser342delinsThr) | |
1 | g.21575913_21575915delinsACT | CA1158019344 | ALPL | c.1178_1180delinsACT (p.Asn393=) n.447_449delinsACT c.253_255delinsACT c.947_949delinsACT (p.Asn316=) c.1013_1015delinsACT (p.Asn338=) c.1022_1024delinsACT (p.Asn341=) | |
1 | g.21575913_21575919del | CA913072857 | ALPL | c.1178_1184del (p.Asn393ThrfsTer8) n.447_453del c.253_259del c.947_953del (p.Asn316ThrfsTer8) c.1013_1019del (p.Asn338ThrfsTer8) c.1022_1028del (p.Asn341ThrfsTer8) | |
1 | g.21575913_21575919delinsACTCTAT | CA1158019345 | ALPL | c.1178_1184delinsACTCTAT (p.Asn393=) n.447_453delinsACTCTAT c.253_259delinsACTCTAT c.947_953delinsACTCTAT (p.Asn316=) c.1013_1019delinsACTCTAT (p.Asn338=) c.1022_1028delinsACTCTAT (p.Asn341=) | |
1 | g.21575914C>A | CA338881510 | ALPL | c.1179C>A (p.Asn393Lys) n.448C>A c.254C>A c.948C>A (p.Asn316Lys) c.1014C>A (p.Asn338Lys) c.1023C>A (p.Asn341Lys) | |
1 | g.21575914C>G | CA338881511 | ALPL | c.1179C>G (p.Asn393Lys) n.448C>G c.254C>G c.948C>G (p.Asn316Lys) c.1014C>G (p.Asn338Lys) c.1023C>G (p.Asn341Lys) | |
1 | g.21575914C>T | CA416533523 | ALPL | c.1179C>T (p.Asn393=) n.448C>T c.254C>T c.948C>T (p.Asn316=) c.1014C>T (p.Asn338=) c.1023C>T (p.Asn341=) | |
1 | g.21575916_21575917del | CA338881513 | ALPL | c.1181_1182del (p.Ser394TyrfsTer10) n.450_451del c.256_257del c.950_951del (p.Ser317TyrfsTer10) c.1016_1017del (p.Ser339TyrfsTer10) c.1025_1026del (p.Ser342TyrfsTer10) | ClinVar dbSNP gnomAD v4 |
1 | g.21575916_21575921del | CA658820992 | ALPL | c.1181_1186del (p.Ser394_Ile395del) n.450_455del c.256_261del c.950_955del (p.Ser317_Ile318del) c.1016_1021del (p.Ser339_Ile340del) c.1025_1030del (p.Ser342_Ile343del) | ClinVar dbSNP |
1 | g.21575915T>A | CA338881514 | ALPL | c.1180T>A (p.Ser394Thr) n.449T>A c.255T>A c.949T>A (p.Ser317Thr) c.1015T>A (p.Ser339Thr) c.1024T>A (p.Ser342Thr) | |
1 | g.21575915T>C | CA338881515 | ALPL | c.1180T>C (p.Ser394Pro) n.449T>C c.255T>C c.949T>C (p.Ser317Pro) c.1015T>C (p.Ser339Pro) c.1024T>C (p.Ser342Pro) | |
1 | g.21575915T>G | CA338881517 | ALPL | c.1180T>G (p.Ser394Ala) n.449T>G c.255T>G c.949T>G (p.Ser317Ala) c.1015T>G (p.Ser339Ala) c.1024T>G (p.Ser342Ala) | |
1 | g.21575916C>A | CA338881519 | ALPL | c.1181C>A (p.Ser394Tyr) n.450C>A c.256C>A c.950C>A (p.Ser317Tyr) c.1016C>A (p.Ser339Tyr) c.1025C>A (p.Ser342Tyr) | |
1 | g.21575916C= | CA1158019346 | ALPL | c.1181C= (p.Ser394=) n.450C= c.256C= c.950C= (p.Ser317=) c.1016C= (p.Ser339=) c.1025C= (p.Ser342=) | |
1 | g.21575916C>G | CA338881521 | ALPL | c.1181C>G (p.Ser394Cys) n.450C>G c.256C>G c.950C>G (p.Ser317Cys) c.1016C>G (p.Ser339Cys) c.1025C>G (p.Ser342Cys) | |
1 | g.21575916C>T | CA338881522 | ALPL | c.1181C>T (p.Ser394Phe) n.450C>T c.256C>T c.950C>T (p.Ser317Phe) c.1016C>T (p.Ser339Phe) c.1025C>T (p.Ser342Phe) | gnomAD v4 |
1 | g.21575917T>A | CA416533533 | ALPL | c.1182T>A (p.Ser394=) n.451T>A c.257T>A c.951T>A (p.Ser317=) c.1017T>A (p.Ser339=) c.1026T>A (p.Ser342=) | ClinVar |
1 | g.21575917T>C | CA666750 | ALPL | c.1182T>C (p.Ser394=) n.451T>C c.257T>C c.951T>C (p.Ser317=) c.1017T>C (p.Ser339=) c.1026T>C (p.Ser342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575917T>G | CA416533535 | ALPL | c.1182T>G (p.Ser394=) n.451T>G c.257T>G c.951T>G (p.Ser317=) c.1017T>G (p.Ser339=) c.1026T>G (p.Ser342=) | |
1 | g.21575917T= | CA1158019347 | ALPL | c.1182T= (p.Ser394=) n.451T= c.257T= c.951T= (p.Ser317=) c.1017T= (p.Ser339=) c.1026T= (p.Ser342=) | |
1 | g.21575917dup | CA666749 | ALPL | c.1182dup (p.Ile395TyrfsTer10) n.451dup c.257dup c.951dup (p.Ile318TyrfsTer10) c.1017dup (p.Ile340TyrfsTer10) c.1026dup (p.Ile343TyrfsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575918A= | CA1158019348 | ALPL | c.1183A= (p.Ile395=) n.452A= c.258A= c.952A= (p.Ile318=) c.1018A= (p.Ile340=) c.1027A= (p.Ile343=) | |
1 | g.21575918A>C | CA338881525 | ALPL | c.1183A>C (p.Ile395Leu) n.452A>C c.258A>C c.952A>C (p.Ile318Leu) c.1018A>C (p.Ile340Leu) c.1027A>C (p.Ile343Leu) | |
1 | g.21575918A>G | CA666751 | ALPL | c.1183A>G (p.Ile395Val) n.452A>G c.258A>G c.952A>G (p.Ile318Val) c.1018A>G (p.Ile340Val) c.1027A>G (p.Ile343Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575918A>T | CA338881527 | ALPL | c.1183A>T (p.Ile395Phe) n.452A>T c.258A>T c.952A>T (p.Ile318Phe) c.1018A>T (p.Ile340Phe) c.1027A>T (p.Ile343Phe) | ClinVar dbSNP |
1 | g.21575919T>A | CA338881529 | ALPL | c.1184T>A (p.Ile395Asn) n.453T>A c.259T>A c.953T>A (p.Ile318Asn) c.1019T>A (p.Ile340Asn) c.1028T>A (p.Ile343Asn) | |
1 | g.21575919T>C | CA19070423 | ALPL | c.1184T>C (p.Ile395Thr) n.453T>C c.259T>C c.953T>C (p.Ile318Thr) c.1019T>C (p.Ile340Thr) c.1028T>C (p.Ile343Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21575919T>G | CA338881531 | ALPL | c.1184T>G (p.Ile395Ser) n.453T>G c.259T>G c.953T>G (p.Ile318Ser) c.1019T>G (p.Ile340Ser) c.1028T>G (p.Ile343Ser) | |
1 | g.21575919T= | CA1158019349 | ALPL | c.1184T= (p.Ile395=) n.453T= c.259T= c.953T= (p.Ile318=) c.1019T= (p.Ile340=) c.1028T= (p.Ile343=) | |
1 | g.21575920_21575923del | CA2697552239 | ALPL | c.1185_1188del (p.Ile395MetfsTer7) n.454_457del c.260_263del c.954_957del (p.Ile318MetfsTer7) c.1020_1023del (p.Ile340MetfsTer7) c.1029_1032del (p.Ile343MetfsTer7) | ClinVar |
1 | g.21575920C>A | CA416533549 | ALPL | c.1185C>A (p.Ile395=) n.454C>A c.260C>A c.954C>A (p.Ile318=) c.1020C>A (p.Ile340=) c.1029C>A (p.Ile343=) | gnomAD v4 |
1 | g.21575920C>G | CA338881532 | ALPL | c.1185C>G (p.Ile395Met) n.454C>G c.260C>G c.954C>G (p.Ile318Met) c.1020C>G (p.Ile340Met) c.1029C>G (p.Ile343Met) | |
1 | g.21575920C>T | CA416533547 | ALPL | c.1185C>T (p.Ile395=) n.454C>T c.260C>T c.954C>T (p.Ile318=) c.1020C>T (p.Ile340=) c.1029C>T (p.Ile343=) | |
1 | g.21575921T>A | CA338881534 | ALPL | c.1186T>A (p.Phe396Ile) n.455T>A c.261T>A c.955T>A (p.Phe319Ile) c.1021T>A (p.Phe341Ile) c.1030T>A (p.Phe344Ile) | |
1 | g.21575921T>C | CA338881535 | ALPL | c.1186T>C (p.Phe396Leu) n.455T>C c.261T>C c.955T>C (p.Phe319Leu) c.1021T>C (p.Phe341Leu) c.1030T>C (p.Phe344Leu) | COSMIC |
1 | g.21575921T>G | CA338881536 | ALPL | c.1186T>G (p.Phe396Val) n.455T>G c.261T>G c.955T>G (p.Phe319Val) c.1021T>G (p.Phe341Val) c.1030T>G (p.Phe344Val) | |
1 | g.21575922T>A | CA338881538 | ALPL | c.1187T>A (p.Phe396Tyr) n.456T>A c.262T>A c.956T>A (p.Phe319Tyr) c.1022T>A (p.Phe341Tyr) c.1031T>A (p.Phe344Tyr) | |
1 | g.21575922T>C | CA338881539 | ALPL | c.1187T>C (p.Phe396Ser) n.456T>C c.262T>C c.956T>C (p.Phe319Ser) c.1022T>C (p.Phe341Ser) c.1031T>C (p.Phe344Ser) | |
1 | g.21575922T>G | CA338881541 | ALPL | c.1187T>G (p.Phe396Cys) n.456T>G c.262T>G c.956T>G (p.Phe319Cys) c.1022T>G (p.Phe341Cys) c.1031T>G (p.Phe344Cys) | |
1 | g.21575923T>A | CA338881542 | ALPL | c.1188T>A (p.Phe396Leu) n.457T>A c.263T>A c.957T>A (p.Phe319Leu) c.1023T>A (p.Phe341Leu) c.1032T>A (p.Phe344Leu) | |
1 | g.21575923T>C | CA416533558 | ALPL | c.1188T>C (p.Phe396=) n.457T>C c.263T>C c.957T>C (p.Phe319=) c.1023T>C (p.Phe341=) c.1032T>C (p.Phe344=) | |
1 | g.21575923T>G | CA338881545 | ALPL | c.1188T>G (p.Phe396Leu) n.457T>G c.263T>G c.957T>G (p.Phe319Leu) c.1023T>G (p.Phe341Leu) c.1032T>G (p.Phe344Leu) | |
1 | g.21575924G>A | CA338881547 | ALPL | c.1189G>A (p.Gly397Ser) n.458G>A c.264G>A c.958G>A (p.Gly320Ser) c.1024G>A (p.Gly342Ser) c.1033G>A (p.Gly345Ser) | |
1 | g.21575924G>C | CA338881549 | ALPL | c.1189G>C (p.Gly397Arg) n.458G>C c.264G>C c.958G>C (p.Gly320Arg) c.1024G>C (p.Gly342Arg) c.1033G>C (p.Gly345Arg) | gnomAD v4 |
1 | g.21575924G>T | CA338881552 | ALPL | c.1189G>T (p.Gly397Cys) n.458G>T c.264G>T c.958G>T (p.Gly320Cys) c.1024G>T (p.Gly342Cys) c.1033G>T (p.Gly345Cys) | |
1 | g.21575925G>A | CA338881553 | ALPL | c.1189+1G>A (n.1189+1G>A) n.458+1G>A c.264+1G>A c.958+1G>A (n.958+1G>A) c.1024+1G>A (n.1024+1G>A) c.1033+1G>A (n.1033+1G>A) | |
1 | g.21575925G>C | CA338881556 | ALPL | c.1189+1G>C (n.1189+1G>C) n.458+1G>C c.264+1G>C c.958+1G>C (n.958+1G>C) c.1024+1G>C (n.1024+1G>C) c.1033+1G>C (n.1033+1G>C) | |
1 | g.21575925G>T | CA338881557 | ALPL | c.1189+1G>T (n.1189+1G>T) n.458+1G>T c.264+1G>T c.958+1G>T (n.958+1G>T) c.1024+1G>T (n.1024+1G>T) c.1033+1G>T (n.1033+1G>T) | |
1 | g.21575926T>A | CA338881560 | ALPL | c.1189+2T>A (n.1189+2T>A) n.458+2T>A c.264+2T>A c.958+2T>A (n.958+2T>A) c.1024+2T>A (n.1024+2T>A) c.1033+2T>A (n.1033+2T>A) | |
1 | g.21575926T>C | CA338881563 | ALPL | c.1189+2T>C (n.1189+2T>C) n.458+2T>C c.264+2T>C c.958+2T>C (n.958+2T>C) c.1024+2T>C (n.1024+2T>C) c.1033+2T>C (n.1033+2T>C) | dbSNP gnomAD v4 |
1 | g.21575926T>G | CA338881566 | ALPL | c.1189+2T>G (n.1189+2T>G) n.458+2T>G c.264+2T>G c.958+2T>G (n.958+2T>G) c.1024+2T>G (n.1024+2T>G) c.1033+2T>G (n.1033+2T>G) | |
1 | g.21575926T= | CA1158019350 | ALPL | c.1189+2T= (n.1189+2T=) n.458+2T= c.264+2T= c.958+2T= (n.958+2T=) c.1024+2T= (n.1024+2T=) c.1033+2T= (n.1033+2T=) | |
1 | g.21575927A>G | CA2643931725 | ALPL | c.1189+3A>G (n.1189+3A>G) n.458+3A>G c.264+3A>G c.958+3A>G (n.958+3A>G) c.1024+3A>G (n.1024+3A>G) c.1033+3A>G (n.1033+3A>G) | gnomAD v4 |
1 | g.21575927_21575928delinsAG | CA1158019351 | ALPL | c.1189+3_1189+4delinsAG (n.1189+3_1189+4delinsAG) n.458+3_458+4delinsAG c.264+3_264+4delinsAG c.958+3_958+4delinsAG (n.958+3_958+4delinsAG) c.1024+3_1024+4delinsAG (n.1024+3_1024+4delinsAG) c.1033+3_1033+4delinsAG (n.1033+3_1033+4delinsAG) | |
1 | g.21575928G>T | CA2643931726 | ALPL | c.1189+4G>T (n.1189+4G>T) n.458+4G>T c.264+4G>T c.958+4G>T (n.958+4G>T) c.1024+4G>T (n.1024+4G>T) c.1033+4G>T (n.1033+4G>T) | gnomAD v4 |
1 | g.21575929del | CA521899903 | ALPL | c.1189+5del (n.1189+5del) n.458+5del c.264+5del c.958+5del (n.958+5del) c.1024+5del (n.1024+5del) c.1033+5del (n.1033+5del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575929G>A | CA521899904 | ALPL | c.1189+5G>A (n.1189+5G>A) n.458+5G>A c.264+5G>A c.958+5G>A (n.958+5G>A) c.1024+5G>A (n.1024+5G>A) c.1033+5G>A (n.1033+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575929G= | CA1158019352 | ALPL | c.1189+5G= (n.1189+5G=) n.458+5G= c.264+5G= c.958+5G= (n.958+5G=) c.1024+5G= (n.1024+5G=) c.1033+5G= (n.1033+5G=) | |
1 | g.21575929G>T | CA2643931727 | ALPL | c.1189+5G>T (n.1189+5G>T) n.458+5G>T c.264+5G>T c.958+5G>T (n.958+5G>T) c.1024+5G>T (n.1024+5G>T) c.1033+5G>T (n.1033+5G>T) | gnomAD v4 |