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.21573668_21573688del | CA2643930962 | ALPL | c.866_886del (p.Leu289_Met295del) c.73-2065_73-2045del c.635_655del (p.Leu212_Met218del) c.701_721del (p.Leu234_Met240del) c.710_730del (p.Leu237_Met243del) | gnomAD v4 |
| 1 | g.21573687G>A | CA338880208 | ALPL | c.885G>A (p.Met295Ile) c.73-2046G>A c.654G>A (p.Met218Ile) c.720G>A (p.Met240Ile) c.729G>A (p.Met243Ile) | |
| 1 | g.21573687G>C | CA338880209 | ALPL | c.885G>C (p.Met295Ile) c.73-2046G>C c.654G>C (p.Met218Ile) c.720G>C (p.Met240Ile) c.729G>C (p.Met243Ile) | |
| 1 | g.21573687G>T | CA338880210 | ALPL | c.885G>T (p.Met295Ile) c.73-2046G>T c.654G>T (p.Met218Ile) c.720G>T (p.Met240Ile) c.729G>T (p.Met243Ile) | |
| 1 | g.21573688C>A | CA338880211 | ALPL | c.886C>A (p.Gln296Lys) c.73-2045C>A c.655C>A (p.Gln219Lys) c.721C>A (p.Gln241Lys) c.730C>A (p.Gln244Lys) | gnomAD v4 |
| 1 | g.21573688C>G | CA338880212 | ALPL | c.886C>G (p.Gln296Glu) c.73-2045C>G c.655C>G (p.Gln219Glu) c.721C>G (p.Gln241Glu) c.730C>G (p.Gln244Glu) | |
| 1 | g.21573688C>T | CA338880213 | ALPL | c.886C>T (p.Gln296Ter) c.73-2045C>T c.655C>T (p.Gln219Ter) c.721C>T (p.Gln241Ter) c.730C>T (p.Gln244Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21573689A= | CA1148476431 | ALPL | c.887A= (p.Gln296=) c.73-2044A= c.656A= (p.Gln219=) c.722A= (p.Gln241=) c.731A= (p.Gln244=) | |
| 1 | g.21573689A>C | CA338880215 | ALPL | c.887A>C (p.Gln296Pro) c.73-2044A>C c.656A>C (p.Gln219Pro) c.722A>C (p.Gln241Pro) c.731A>C (p.Gln244Pro) | ClinVar |
| 1 | g.21573689A>G | CA338880214 | ALPL | c.887A>G (p.Gln296Arg) c.73-2044A>G c.656A>G (p.Gln219Arg) c.722A>G (p.Gln241Arg) c.731A>G (p.Gln244Arg) | |
| 1 | g.21573689A>T | CA666671 | ALPL | c.887A>T (p.Gln296Leu) c.73-2044A>T c.656A>T (p.Gln219Leu) c.722A>T (p.Gln241Leu) c.731A>T (p.Gln244Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21573690G>A | CA416532450 | ALPL | c.888G>A (p.Gln296=) c.73-2043G>A c.657G>A (p.Gln219=) c.723G>A (p.Gln241=) c.732G>A (p.Gln244=) | |
| 1 | g.21573690G>C | CA338880216 | ALPL | c.888G>C (p.Gln296His) c.73-2043G>C c.657G>C (p.Gln219His) c.723G>C (p.Gln241His) c.732G>C (p.Gln244His) | |
| 1 | g.21573690G>T | CA338880217 | ALPL | c.888G>T (p.Gln296His) c.73-2043G>T c.657G>T (p.Gln219His) c.723G>T (p.Gln241His) c.732G>T (p.Gln244His) | dbSNP |
| 1 | g.21573691T>A | CA338880218 | ALPL | c.889T>A (p.Tyr297Asn) c.73-2042T>A c.658T>A (p.Tyr220Asn) c.724T>A (p.Tyr242Asn) c.733T>A (p.Tyr245Asn) | ClinVar dbSNP |
| 1 | g.21573691T>C | CA338880219 | ALPL | c.889T>C (p.Tyr297His) c.73-2042T>C c.658T>C (p.Tyr220His) c.724T>C (p.Tyr242His) c.733T>C (p.Tyr245His) | |
| 1 | g.21573691T>G | CA338880220 | ALPL | c.889T>G (p.Tyr297Asp) c.73-2042T>G c.658T>G (p.Tyr220Asp) c.724T>G (p.Tyr242Asp) c.733T>G (p.Tyr245Asp) | |
| 1 | g.21573692A= | CA1158018329 | ALPL | c.890A= (p.Tyr297=) c.73-2041A= c.659A= (p.Tyr220=) c.725A= (p.Tyr242=) c.734A= (p.Tyr245=) | |
| 1 | g.21573692A>C | CA338880221 | ALPL | c.890A>C (p.Tyr297Ser) c.73-2041A>C c.659A>C (p.Tyr220Ser) c.725A>C (p.Tyr242Ser) c.734A>C (p.Tyr245Ser) | |
| 1 | g.21573692A>G | CA338880222 | ALPL | c.890A>G (p.Tyr297Cys) c.73-2041A>G c.659A>G (p.Tyr220Cys) c.725A>G (p.Tyr242Cys) c.734A>G (p.Tyr245Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21573692A>T | CA338880223 | ALPL | c.890A>T (p.Tyr297Phe) c.73-2041A>T c.659A>T (p.Tyr220Phe) c.725A>T (p.Tyr242Phe) c.734A>T (p.Tyr245Phe) | gnomAD v4 |
| 1 | g.21573693C>A | CA274381 | ALPL | c.891C>A (p.Tyr297Ter) c.73-2040C>A c.660C>A (p.Tyr220Ter) c.726C>A (p.Tyr242Ter) c.735C>A (p.Tyr245Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573693C= | CA1158018330 | ALPL | c.891C= (p.Tyr297=) c.73-2040C= c.660C= (p.Tyr220=) c.726C= (p.Tyr242=) c.735C= (p.Tyr245=) | |
| 1 | g.21573693C>G | CA338880224 | ALPL | c.891C>G (p.Tyr297Ter) c.73-2040C>G c.660C>G (p.Tyr220Ter) c.726C>G (p.Tyr242Ter) c.735C>G (p.Tyr245Ter) | ClinVar |
| 1 | g.21573693C>T | CA416532474 | ALPL | c.891C>T (p.Tyr297=) c.73-2040C>T c.660C>T (p.Tyr220=) c.726C>T (p.Tyr242=) c.735C>T (p.Tyr245=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573694G>A | CA256926 | ALPL | c.892G>A (p.Glu298Lys) c.73-2039G>A c.661G>A (p.Glu221Lys) c.727G>A (p.Glu243Lys) c.736G>A (p.Glu246Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573694G>C | CA338880225 | ALPL | c.892G>C (p.Glu298Gln) c.73-2039G>C c.661G>C (p.Glu221Gln) c.727G>C (p.Glu243Gln) c.736G>C (p.Glu246Gln) | dbSNP gnomAD v4 |
| 1 | g.21573694G= | CA1141580644 | ALPL | c.892G= (p.Glu298=) c.73-2039G= c.661G= (p.Glu221=) c.727G= (p.Glu243=) c.736G= (p.Glu246=) | |
| 1 | g.21573694G>T | CA338880226 | ALPL | c.892G>T (p.Glu298Ter) c.73-2039G>T c.661G>T (p.Glu221Ter) c.727G>T (p.Glu243Ter) c.736G>T (p.Glu246Ter) | |
| 1 | g.21573695A>C | CA338880227 | ALPL | c.893A>C (p.Glu298Ala) c.73-2038A>C c.662A>C (p.Glu221Ala) c.728A>C (p.Glu243Ala) c.737A>C (p.Glu246Ala) | |
| 1 | g.21573695A>G | CA338880229 | ALPL | c.893A>G (p.Glu298Gly) c.73-2038A>G c.662A>G (p.Glu221Gly) c.728A>G (p.Glu243Gly) c.737A>G (p.Glu246Gly) | |
| 1 | g.21573695A>T | CA338880228 | ALPL | c.893A>T (p.Glu298Val) c.73-2038A>T c.662A>T (p.Glu221Val) c.728A>T (p.Glu243Val) c.737A>T (p.Glu246Val) | |
| 1 | g.21573696G>A | CA416532494 | ALPL | c.894G>A (p.Glu298=) c.73-2037G>A c.663G>A (p.Glu221=) c.729G>A (p.Glu243=) c.738G>A (p.Glu246=) | ClinVar gnomAD v4 |
| 1 | g.21573696G>C | CA338880230 | ALPL | c.894G>C (p.Glu298Asp) c.73-2037G>C c.663G>C (p.Glu221Asp) c.729G>C (p.Glu243Asp) c.738G>C (p.Glu246Asp) | |
| 1 | g.21573696G>T | CA338880231 | ALPL | c.894G>T (p.Glu298Asp) c.73-2037G>T c.663G>T (p.Glu221Asp) c.729G>T (p.Glu243Asp) c.738G>T (p.Glu246Asp) | ClinVar gnomAD v4 |
| 1 | g.21573697C>A | CA338880232 | ALPL | c.895C>A (p.Leu299Met) c.73-2036C>A c.664C>A (p.Leu222Met) c.730C>A (p.Leu244Met) c.739C>A (p.Leu247Met) | |
| 1 | g.21573697C>G | CA338880233 | ALPL | c.895C>G (p.Leu299Val) c.73-2036C>G c.664C>G (p.Leu222Val) c.730C>G (p.Leu244Val) c.739C>G (p.Leu247Val) | |
| 1 | g.21573697C>T | CA416532500 | ALPL | c.895C>T (p.Leu299=) c.73-2036C>T c.664C>T (p.Leu222=) c.730C>T (p.Leu244=) c.739C>T (p.Leu247=) | |
| 1 | g.21573698T>A | CA338880234 | ALPL | c.896T>A (p.Leu299Gln) c.73-2035T>A c.665T>A (p.Leu222Gln) c.731T>A (p.Leu244Gln) c.740T>A (p.Leu247Gln) | |
| 1 | g.21573698T>C | CA338880235 | ALPL | c.896T>C (p.Leu299Pro) c.73-2035T>C c.665T>C (p.Leu222Pro) c.731T>C (p.Leu244Pro) c.740T>C (p.Leu247Pro) | ClinVar dbSNP |
| 1 | g.21573698T>G | CA338880236 | ALPL | c.896T>G (p.Leu299Arg) c.73-2035T>G c.665T>G (p.Leu222Arg) c.731T>G (p.Leu244Arg) c.740T>G (p.Leu247Arg) | |
| 1 | g.21573699G>A | CA416532516 | ALPL | c.897G>A (p.Leu299=) c.73-2034G>A c.666G>A (p.Leu222=) c.732G>A (p.Leu244=) c.741G>A (p.Leu247=) | |
| 1 | g.21573699G>C | CA416532513 | ALPL | c.897G>C (p.Leu299=) c.73-2034G>C c.666G>C (p.Leu222=) c.732G>C (p.Leu244=) c.741G>C (p.Leu247=) | |
| 1 | g.21573699G>T | CA416532510 | ALPL | c.897G>T (p.Leu299=) c.73-2034G>T c.666G>T (p.Leu222=) c.732G>T (p.Leu244=) c.741G>T (p.Leu247=) | |
| 1 | g.21573700A>C | CA338880237 | ALPL | c.898A>C (p.Asn300His) c.73-2033A>C c.667A>C (p.Asn223His) c.733A>C (p.Asn245His) c.742A>C (p.Asn248His) | |
| 1 | g.21573700A>G | CA338880238 | ALPL | c.898A>G (p.Asn300Asp) c.73-2033A>G c.667A>G (p.Asn223Asp) c.733A>G (p.Asn245Asp) c.742A>G (p.Asn248Asp) | |
| 1 | g.21573700A>T | CA338880239 | ALPL | c.898A>T (p.Asn300Tyr) c.73-2033A>T c.667A>T (p.Asn223Tyr) c.733A>T (p.Asn245Tyr) c.742A>T (p.Asn248Tyr) | |
| 1 | g.21573700_21573701insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT | CA416532526 | ALPL | c.898_899insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT (p.Asn300delinsIleArgLeuLysAsnGluLeuGlyIleThrPheLeuTyrValThrHisAspGlnGluGluAlaLeuThrMetSerAspLysValIleValMetAsnGlyGlyTyr) c.73-2033_73-2032insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT c.667_668insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT (p.Asn223delinsIleArgLeuLysAsnGluLeuGlyIleThrPheLeuTyrValThrHisAspGlnGluGluAlaLeuThrMetSerAspLysValIleValMetAsnGlyGlyTyr) c.733_734insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT (p.Asn245delinsIleArgLeuLysAsnGluLeuGlyIleThrPheLeuTyrValThrHisAspGlnGluGluAlaLeuThrMetSerAspLysValIleValMetAsnGlyGlyTyr) c.742_743insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT (p.Asn248delinsIleArgLeuLysAsnGluLeuGlyIleThrPheLeuTyrValThrHisAspGlnGluGluAlaLeuThrMetSerAspLysValIleValMetAsnGlyGlyTyr) | |
| 1 | g.21573701A>C | CA338880242 | ALPL | c.899A>C (p.Asn300Thr) c.73-2032A>C c.668A>C (p.Asn223Thr) c.734A>C (p.Asn245Thr) c.743A>C (p.Asn248Thr) | |
| 1 | g.21573701A>G | CA338880241 | ALPL | c.899A>G (p.Asn300Ser) c.73-2032A>G c.668A>G (p.Asn223Ser) c.734A>G (p.Asn245Ser) c.743A>G (p.Asn248Ser) | |
| 1 | g.21573701A>T | CA338880240 | ALPL | c.899A>T (p.Asn300Ile) c.73-2032A>T c.668A>T (p.Asn223Ile) c.734A>T (p.Asn245Ile) c.743A>T (p.Asn248Ile) | |
| 1 | g.21573702C>A | CA338880243 | ALPL | c.900C>A (p.Asn300Lys) c.73-2031C>A c.669C>A (p.Asn223Lys) c.735C>A (p.Asn245Lys) c.744C>A (p.Asn248Lys) | gnomAD v4 |
| 1 | g.21573702C= | CA1158018331 | ALPL | c.900C= (p.Asn300=) c.73-2031C= c.669C= (p.Asn223=) c.735C= (p.Asn245=) c.744C= (p.Asn248=) | |
| 1 | g.21573702C>G | CA338880244 | ALPL | c.900C>G (p.Asn300Lys) c.73-2031C>G c.669C>G (p.Asn223Lys) c.735C>G (p.Asn245Lys) c.744C>G (p.Asn248Lys) | dbSNP |
| 1 | g.21573702C>T | CA416532532 | ALPL | c.900C>T (p.Asn300=) c.73-2031C>T c.669C>T (p.Asn223=) c.735C>T (p.Asn245=) c.744C>T (p.Asn248=) | |
| 1 | g.21573703A>C | CA416532536 | ALPL | c.901A>C (p.Arg301=) c.73-2030A>C c.670A>C (p.Arg224=) c.736A>C (p.Arg246=) c.745A>C (p.Arg249=) | |
| 1 | g.21573703A>G | CA338880245 | ALPL | c.901A>G (p.Arg301Gly) c.73-2030A>G c.670A>G (p.Arg224Gly) c.736A>G (p.Arg246Gly) c.745A>G (p.Arg249Gly) | |
| 1 | g.21573703A>T | CA338880246 | ALPL | c.901A>T (p.Arg301Trp) c.73-2030A>T c.670A>T (p.Arg224Trp) c.736A>T (p.Arg246Trp) c.745A>T (p.Arg249Trp) | |
| 1 | g.21573703_21573704delinsAG | CA1158018332 | ALPL | c.901_902delinsAG (p.Arg301=) c.73-2030_73-2029delinsAG c.670_671delinsAG (p.Arg224=) c.736_737delinsAG (p.Arg246=) c.745_746delinsAG (p.Arg249=) | |
| 1 | g.21573704G>A | CA338880247 | ALPL | c.902G>A (p.Arg301Lys) c.73-2029G>A c.671G>A (p.Arg224Lys) c.737G>A (p.Arg246Lys) c.746G>A (p.Arg249Lys) | ClinVar dbSNP |
| 1 | g.21573704G>C | CA338880248 | ALPL | c.902G>C (p.Arg301Thr) c.73-2029G>C c.671G>C (p.Arg224Thr) c.737G>C (p.Arg246Thr) c.746G>C (p.Arg249Thr) | |
| 1 | g.21573704G= | CA1158018333 | ALPL | c.902G= (p.Arg301=) c.73-2029G= c.671G= (p.Arg224=) c.737G= (p.Arg246=) c.746G= (p.Arg249=) | |
| 1 | g.21573704G>T | CA338880249 | ALPL | c.902G>T (p.Arg301Met) c.73-2029G>T c.671G>T (p.Arg224Met) c.737G>T (p.Arg246Met) c.746G>T (p.Arg249Met) | |
| 1 | g.21573705del | CA666672 | ALPL | c.903del (p.Asn302ThrfsTer3) c.73-2028del c.672del (p.Asn225ThrfsTer3) c.738del (p.Asn247ThrfsTer3) c.747del (p.Asn250ThrfsTer3) | ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.21573705G>A | CA666673 | ALPL | c.903G>A (p.Arg301=) c.73-2028G>A c.672G>A (p.Arg224=) c.738G>A (p.Arg246=) c.747G>A (p.Arg249=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.21573705G>C | CA338880250 | ALPL | c.903G>C (p.Arg301Ser) c.73-2028G>C c.672G>C (p.Arg224Ser) c.738G>C (p.Arg246Ser) c.747G>C (p.Arg249Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21573705G= | CA1149066334 | ALPL | c.903G= (p.Arg301=) c.73-2028G= c.672G= (p.Arg224=) c.738G= (p.Arg246=) c.747G= (p.Arg249=) | |
| 1 | g.21573705G>T | CA338880251 | ALPL | c.903G>T (p.Arg301Ser) c.73-2028G>T c.672G>T (p.Arg224Ser) c.738G>T (p.Arg246Ser) c.747G>T (p.Arg249Ser) | ClinVar gnomAD v4 |
| 1 | g.21573706A>C | CA338880252 | ALPL | c.904A>C (p.Asn302His) c.73-2027A>C c.673A>C (p.Asn225His) c.739A>C (p.Asn247His) c.748A>C (p.Asn250His) | |
| 1 | g.21573706A>G | CA338880253 | ALPL | c.904A>G (p.Asn302Asp) c.73-2027A>G c.673A>G (p.Asn225Asp) c.739A>G (p.Asn247Asp) c.748A>G (p.Asn250Asp) | |
| 1 | g.21573706A>T | CA338880254 | ALPL | c.904A>T (p.Asn302Tyr) c.73-2027A>T c.673A>T (p.Asn225Tyr) c.739A>T (p.Asn247Tyr) c.748A>T (p.Asn250Tyr) | |
| 1 | g.21573707A>C | CA338880255 | ALPL | c.905A>C (p.Asn302Thr) c.73-2026A>C c.674A>C (p.Asn225Thr) c.740A>C (p.Asn247Thr) c.749A>C (p.Asn250Thr) | |
| 1 | g.21573707A>G | CA338880257 | ALPL | c.905A>G (p.Asn302Ser) c.73-2026A>G c.674A>G (p.Asn225Ser) c.740A>G (p.Asn247Ser) c.749A>G (p.Asn250Ser) | |
| 1 | g.21573707A>T | CA338880256 | ALPL | c.905A>T (p.Asn302Ile) c.73-2026A>T c.674A>T (p.Asn225Ile) c.740A>T (p.Asn247Ile) c.749A>T (p.Asn250Ile) | |
| 1 | g.21573708C>A | CA666674 | ALPL | c.906C>A (p.Asn302Lys) c.73-2025C>A c.675C>A (p.Asn225Lys) c.741C>A (p.Asn247Lys) c.750C>A (p.Asn250Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573708C= | CA1146752558 | ALPL | c.906C= (p.Asn302=) c.73-2025C= c.675C= (p.Asn225=) c.741C= (p.Asn247=) c.750C= (p.Asn250=) | |
| 1 | g.21573708C>G | CA666675 | ALPL | c.906C>G (p.Asn302Lys) c.73-2025C>G c.675C>G (p.Asn225Lys) c.741C>G (p.Asn247Lys) c.750C>G (p.Asn250Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21573708C>T | CA416532568 | ALPL | c.906C>T (p.Asn302=) c.73-2025C>T c.675C>T (p.Asn225=) c.741C>T (p.Asn247=) c.750C>T (p.Asn250=) | |
| 1 | g.21573709A>C | CA338880258 | ALPL | c.907A>C (p.Asn303His) c.73-2024A>C c.676A>C (p.Asn226His) c.742A>C (p.Asn248His) c.751A>C (p.Asn251His) | |
| 1 | g.21573709A>G | CA338880259 | ALPL | c.907A>G (p.Asn303Asp) c.73-2024A>G c.676A>G (p.Asn226Asp) c.742A>G (p.Asn248Asp) c.751A>G (p.Asn251Asp) | |
| 1 | g.21573709A>T | CA338880260 | ALPL | c.907A>T (p.Asn303Tyr) c.73-2024A>T c.676A>T (p.Asn226Tyr) c.742A>T (p.Asn248Tyr) c.751A>T (p.Asn251Tyr) | |
| 1 | g.21573709_21573710insCACG | CA2580061454 | ALPL | c.907_908insCACG (p.Asn303ThrfsTer?) c.73-2024_73-2023insCACG c.676_677insCACG (p.Asn226ThrfsTer?) c.742_743insCACG (p.Asn248ThrfsTer?) c.751_752insCACG (p.Asn251ThrfsTer?) | ClinVar |
| 1 | g.21573710A>C | CA338880261 | ALPL | c.908A>C (p.Asn303Thr) c.73-2023A>C c.677A>C (p.Asn226Thr) c.743A>C (p.Asn248Thr) c.752A>C (p.Asn251Thr) | |
| 1 | g.21573710A>G | CA338880262 | ALPL | c.908A>G (p.Asn303Ser) c.73-2023A>G c.677A>G (p.Asn226Ser) c.743A>G (p.Asn248Ser) c.752A>G (p.Asn251Ser) | |
| 1 | g.21573710A>T | CA338880263 | ALPL | c.908A>T (p.Asn303Ile) c.73-2023A>T c.677A>T (p.Asn226Ile) c.743A>T (p.Asn248Ile) c.752A>T (p.Asn251Ile) | |
| 1 | g.21573711C>A | CA338880264 | ALPL | c.909C>A (p.Asn303Lys) c.73-2022C>A c.678C>A (p.Asn226Lys) c.744C>A (p.Asn248Lys) c.753C>A (p.Asn251Lys) | |
| 1 | g.21573711C= | CA1158018334 | ALPL | c.909C= (p.Asn303=) c.73-2022C= c.678C= (p.Asn226=) c.744C= (p.Asn248=) c.753C= (p.Asn251=) | |
| 1 | g.21573711C>G | CA338880265 | ALPL | c.909C>G (p.Asn303Lys) c.73-2022C>G c.678C>G (p.Asn226Lys) c.744C>G (p.Asn248Lys) c.753C>G (p.Asn251Lys) | |
| 1 | g.21573711C>T | CA416532586 | ALPL | c.909C>T (p.Asn303=) c.73-2022C>T c.678C>T (p.Asn226=) c.744C>T (p.Asn248=) c.753C>T (p.Asn251=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21573712G>A | CA666676 | ALPL | c.910G>A (p.Val304Met) c.73-2021G>A c.679G>A (p.Val227Met) c.745G>A (p.Val249Met) c.754G>A (p.Val252Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.21573712G>C | CA338880267 | ALPL | c.910G>C (p.Val304Leu) c.73-2021G>C c.679G>C (p.Val227Leu) c.745G>C (p.Val249Leu) c.754G>C (p.Val252Leu) | |
| 1 | g.21573712G= | CA1148255032 | ALPL | c.910G= (p.Val304=) c.73-2021G= c.679G= (p.Val227=) c.745G= (p.Val249=) c.754G= (p.Val252=) | |
| 1 | g.21573712G>T | CA338880266 | ALPL | c.910G>T (p.Val304Leu) c.73-2021G>T c.679G>T (p.Val227Leu) c.745G>T (p.Val249Leu) c.754G>T (p.Val252Leu) | |
| 1 | g.21573713T>A | CA338880268 | ALPL | c.911T>A (p.Val304Glu) c.73-2020T>A c.680T>A (p.Val227Glu) c.746T>A (p.Val249Glu) c.755T>A (p.Val252Glu) | |
| 1 | g.21573713T>C | CA338880269 | ALPL | c.911T>C (p.Val304Ala) c.73-2020T>C c.680T>C (p.Val227Ala) c.746T>C (p.Val249Ala) c.755T>C (p.Val252Ala) | |
| 1 | g.21573713T>G | CA338880270 | ALPL | c.911T>G (p.Val304Gly) c.73-2020T>G c.680T>G (p.Val227Gly) c.746T>G (p.Val249Gly) c.755T>G (p.Val252Gly) | |
| 1 | g.21573713dup | CA2574252956 | ALPL | c.911dup (p.Thr305AspfsTer?) c.73-2020dup c.680dup (p.Thr228AspfsTer?) c.746dup (p.Thr250AspfsTer?) c.755dup (p.Thr253AspfsTer?) | |
| 1 | g.21573714G>A | CA416532605 | ALPL | c.912G>A (p.Val304=) c.73-2019G>A c.681G>A (p.Val227=) c.747G>A (p.Val249=) c.756G>A (p.Val252=) | |
| 1 | g.21573714G>C | CA416532603 | ALPL | c.912G>C (p.Val304=) c.73-2019G>C c.681G>C (p.Val227=) c.747G>C (p.Val249=) c.756G>C (p.Val252=) | |
| 1 | g.21573714G>T | CA416532608 | ALPL | c.912G>T (p.Val304=) c.73-2019G>T c.681G>T (p.Val227=) c.747G>T (p.Val249=) c.756G>T (p.Val252=) | |
| 1 | g.21573715A>C | CA338880271 | ALPL | c.913A>C (p.Thr305Pro) c.73-2018A>C c.682A>C (p.Thr228Pro) c.748A>C (p.Thr250Pro) c.757A>C (p.Thr253Pro) | |
| 1 | g.21573715A>G | CA338880272 | ALPL | c.913A>G (p.Thr305Ala) c.73-2018A>G c.682A>G (p.Thr228Ala) c.748A>G (p.Thr250Ala) c.757A>G (p.Thr253Ala) | |
| 1 | g.21573715A>T | CA338880273 | ALPL | c.913A>T (p.Thr305Ser) c.73-2018A>T c.682A>T (p.Thr228Ser) c.748A>T (p.Thr250Ser) c.757A>T (p.Thr253Ser) | |
| 1 | g.21573716C>A | CA338880274 | ALPL | c.914C>A (p.Thr305Lys) c.73-2017C>A c.683C>A (p.Thr228Lys) c.749C>A (p.Thr250Lys) c.758C>A (p.Thr253Lys) | gnomAD v3 gnomAD v4 |
| 1 | g.21573716C= | CA1142144445 | ALPL | c.914C= (p.Thr305=) c.73-2017C= c.683C= (p.Thr228=) c.749C= (p.Thr250=) c.758C= (p.Thr253=) | |
| 1 | g.21573716C>G | CA338880275 | ALPL | c.914C>G (p.Thr305Arg) c.73-2017C>G c.683C>G (p.Thr228Arg) c.749C>G (p.Thr250Arg) c.758C>G (p.Thr253Arg) | |
| 1 | g.21573716C>T | CA666677 | ALPL | c.914C>T (p.Thr305Met) c.73-2017C>T c.683C>T (p.Thr228Met) c.749C>T (p.Thr250Met) c.758C>T (p.Thr253Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573717G>A | CA666678 | ALPL | c.915G>A (p.Thr305=) c.73-2016G>A c.684G>A (p.Thr228=) c.750G>A (p.Thr250=) c.759G>A (p.Thr253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573717G>C | CA416532626 | ALPL | c.915G>C (p.Thr305=) c.73-2016G>C c.684G>C (p.Thr228=) c.750G>C (p.Thr250=) c.759G>C (p.Thr253=) | COSMIC |
| 1 | g.21573717G= | CA1144249684 | ALPL | c.915G= (p.Thr305=) c.73-2016G= c.684G= (p.Thr228=) c.750G= (p.Thr250=) c.759G= (p.Thr253=) | |
| 1 | g.21573717G>T | CA416532624 | ALPL | c.915G>T (p.Thr305=) c.73-2016G>T c.684G>T (p.Thr228=) c.750G>T (p.Thr250=) c.759G>T (p.Thr253=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21573718G>A | CA338880276 | ALPL | c.916G>A (p.Asp306Asn) c.73-2015G>A c.685G>A (p.Asp229Asn) c.751G>A (p.Asp251Asn) c.760G>A (p.Asp254Asn) | gnomAD v4 COSMIC |
| 1 | g.21573718G>C | CA338880277 | ALPL | c.916G>C (p.Asp306His) c.73-2015G>C c.685G>C (p.Asp229His) c.751G>C (p.Asp251His) c.760G>C (p.Asp254His) | |
| 1 | g.21573718G= | CA1158018335 | ALPL | c.916G= (p.Asp306=) c.73-2015G= c.685G= (p.Asp229=) c.751G= (p.Asp251=) c.760G= (p.Asp254=) | |
| 1 | g.21573718G>T | CA338880278 | ALPL | c.916G>T (p.Asp306Tyr) c.73-2015G>T c.685G>T (p.Asp229Tyr) c.751G>T (p.Asp251Tyr) c.760G>T (p.Asp254Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21573719A= | CA1158018336 | ALPL | c.917A= (p.Asp306=) c.73-2014A= c.686A= (p.Asp229=) c.752A= (p.Asp251=) c.761A= (p.Asp254=) | |
| 1 | g.21573719A>C | CA338880281 | ALPL | c.917A>C (p.Asp306Ala) c.73-2014A>C c.686A>C (p.Asp229Ala) c.752A>C (p.Asp251Ala) c.761A>C (p.Asp254Ala) | dbSNP |
| 1 | g.21573719A>G | CA338880279 | ALPL | c.917A>G (p.Asp306Gly) c.73-2014A>G c.686A>G (p.Asp229Gly) c.752A>G (p.Asp251Gly) c.761A>G (p.Asp254Gly) | |
| 1 | g.21573719A>T | CA338880280 | ALPL | c.917A>T (p.Asp306Val) c.73-2014A>T c.686A>T (p.Asp229Val) c.752A>T (p.Asp251Val) c.761A>T (p.Asp254Val) | |
| 1 | g.21573720C>A | CA338880282 | ALPL | c.918C>A (p.Asp306Glu) c.73-2013C>A c.687C>A (p.Asp229Glu) c.753C>A (p.Asp251Glu) c.762C>A (p.Asp254Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21573720C= | CA1143916242 | ALPL | c.918C= (p.Asp306=) c.73-2013C= c.687C= (p.Asp229=) c.753C= (p.Asp251=) c.762C= (p.Asp254=) | |
| 1 | g.21573720C>G | CA338880283 | ALPL | c.918C>G (p.Asp306Glu) c.73-2013C>G c.687C>G (p.Asp229Glu) c.753C>G (p.Asp251Glu) c.762C>G (p.Asp254Glu) | |
| 1 | g.21573720C>T | CA666679 | ALPL | c.918C>T (p.Asp306=) c.73-2013C>T c.687C>T (p.Asp229=) c.753C>T (p.Asp251=) c.762C>T (p.Asp254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573721C>A | CA338880284 | ALPL | c.919C>A (p.Pro307Thr) c.73-2012C>A c.688C>A (p.Pro230Thr) c.754C>A (p.Pro252Thr) c.763C>A (p.Pro255Thr) | |
| 1 | g.21573721C= | CA1158018337 | ALPL | c.919C= (p.Pro307=) c.73-2012C= c.688C= (p.Pro230=) c.754C= (p.Pro252=) c.763C= (p.Pro255=) | |
| 1 | g.21573721C>G | CA338880285 | ALPL | c.919C>G (p.Pro307Ala) c.73-2012C>G c.688C>G (p.Pro230Ala) c.754C>G (p.Pro252Ala) c.763C>G (p.Pro255Ala) | |
| 1 | g.21573721C>T | CA338880286 | ALPL | c.919C>T (p.Pro307Ser) c.73-2012C>T c.688C>T (p.Pro230Ser) c.754C>T (p.Pro252Ser) c.763C>T (p.Pro255Ser) | ClinVar dbSNP |
| 1 | g.21573722C>A | CA338880287 | ALPL | c.920C>A (p.Pro307Gln) c.73-2011C>A c.689C>A (p.Pro230Gln) c.755C>A (p.Pro252Gln) c.764C>A (p.Pro255Gln) | gnomAD v4 |
| 1 | g.21573722C= | CA1158018338 | ALPL | c.920C= (p.Pro307=) c.73-2011C= c.689C= (p.Pro230=) c.755C= (p.Pro252=) c.764C= (p.Pro255=) | |
| 1 | g.21573722C>G | CA338880288 | ALPL | c.920C>G (p.Pro307Arg) c.73-2011C>G c.689C>G (p.Pro230Arg) c.755C>G (p.Pro252Arg) c.764C>G (p.Pro255Arg) | |
| 1 | g.21573722C>T | CA666680 | ALPL | c.920C>T (p.Pro307Leu) c.73-2011C>T c.689C>T (p.Pro230Leu) c.755C>T (p.Pro252Leu) c.764C>T (p.Pro255Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573723del | CA2586964057 | ALPL | c.921del (p.Ser308HisfsTer?) c.73-2010del c.690del (p.Ser231HisfsTer?) c.756del (p.Ser253HisfsTer?) c.765del (p.Ser256HisfsTer?) | |
| 1 | g.21573723G>A | CA416532635 | ALPL | c.921G>A (p.Pro307=) c.73-2010G>A c.690G>A (p.Pro230=) c.756G>A (p.Pro252=) c.765G>A (p.Pro255=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.21573723G>C | CA416532634 | ALPL | c.921G>C (p.Pro307=) c.73-2010G>C c.690G>C (p.Pro230=) c.756G>C (p.Pro252=) c.765G>C (p.Pro255=) | |
| 1 | g.21573723G= | CA1158018339 | ALPL | c.921G= (p.Pro307=) c.73-2010G= c.690G= (p.Pro230=) c.756G= (p.Pro252=) c.765G= (p.Pro255=) | |
| 1 | g.21573723G>T | CA416532636 | ALPL | c.921G>T (p.Pro307=) c.73-2010G>T c.690G>T (p.Pro230=) c.756G>T (p.Pro252=) c.765G>T (p.Pro255=) | |
| 1 | g.21573724T>A | CA338880289 | ALPL | c.922T>A (p.Ser308Thr) c.73-2009T>A c.691T>A (p.Ser231Thr) c.757T>A (p.Ser253Thr) c.766T>A (p.Ser256Thr) | |
| 1 | g.21573724T>C | CA338880290 | ALPL | c.922T>C (p.Ser308Pro) c.73-2009T>C c.691T>C (p.Ser231Pro) c.757T>C (p.Ser253Pro) c.766T>C (p.Ser256Pro) | dbSNP |
| 1 | g.21573724T>G | CA338880291 | ALPL | c.922T>G (p.Ser308Ala) c.73-2009T>G c.691T>G (p.Ser231Ala) c.757T>G (p.Ser253Ala) c.766T>G (p.Ser256Ala) | |
| 1 | g.21573724T= | CA1158018340 | ALPL | c.922T= (p.Ser308=) c.73-2009T= c.691T= (p.Ser231=) c.757T= (p.Ser253=) c.766T= (p.Ser256=) | |
| 1 | g.21573725C>A | CA666681 | ALPL | c.923C>A (p.Ser308Ter) c.73-2008C>A c.692C>A (p.Ser231Ter) c.758C>A (p.Ser253Ter) c.767C>A (p.Ser256Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21573725C= | CA1144111808 | ALPL | c.923C= (p.Ser308=) c.73-2008C= c.692C= (p.Ser231=) c.758C= (p.Ser253=) c.767C= (p.Ser256=) | |
| 1 | g.21573725C>G | CA338880292 | ALPL | c.923C>G (p.Ser308Ter) c.73-2008C>G c.692C>G (p.Ser231Ter) c.758C>G (p.Ser253Ter) c.767C>G (p.Ser256Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21573725C>T | CA19068102 | ALPL | c.923C>T (p.Ser308Leu) c.73-2008C>T c.692C>T (p.Ser231Leu) c.758C>T (p.Ser253Leu) c.767C>T (p.Ser256Leu) | dbSNP gnomAD v4 |
| 1 | g.21573726A>C | CA416532638 | ALPL | c.924A>C (p.Ser308=) c.73-2007A>C c.693A>C (p.Ser231=) c.759A>C (p.Ser253=) c.768A>C (p.Ser256=) | |
| 1 | g.21573726A>G | CA416532637 | ALPL | c.924A>G (p.Ser308=) c.73-2007A>G c.693A>G (p.Ser231=) c.759A>G (p.Ser253=) c.768A>G (p.Ser256=) | |
| 1 | g.21573726A>T | CA416532639 | ALPL | c.924A>T (p.Ser308=) c.73-2007A>T c.693A>T (p.Ser231=) c.759A>T (p.Ser253=) c.768A>T (p.Ser256=) | |
| 1 | g.21573726_21573728delinsACT | CA1158018341 | ALPL | c.924_926delinsACT (p.Ser308=) c.73-2007_73-2005delinsACT c.693_695delinsACT (p.Ser231=) c.759_761delinsACT (p.Ser253=) c.768_770delinsACT (p.Ser256=) | |
| 1 | g.21573727C>A | CA338880294 | ALPL | c.925C>A (p.Leu309Ile) c.73-2006C>A c.694C>A (p.Leu232Ile) c.760C>A (p.Leu254Ile) c.769C>A (p.Leu257Ile) | |
| 1 | g.21573727C>G | CA338880293 | ALPL | c.925C>G (p.Leu309Val) c.73-2006C>G c.694C>G (p.Leu232Val) c.760C>G (p.Leu254Val) c.769C>G (p.Leu257Val) | |
| 1 | g.21573727C>T | CA338880295 | ALPL | c.925C>T (p.Leu309Phe) c.73-2006C>T c.694C>T (p.Leu232Phe) c.760C>T (p.Leu254Phe) c.769C>T (p.Leu257Phe) | |
| 1 | g.21573730_21573731del | CA16040719 | ALPL | c.928_929del (p.Ser310ArgfsTer27) c.73-2003_73-2002del c.697_698del (p.Ser233ArgfsTer27) c.763_764del (p.Ser255ArgfsTer27) c.928_929del (p.Ser310ArgfsTer?) c.772_773del (p.Ser258ArgfsTer27) | ClinVar dbSNP |
| 1 | g.21573728T>A | CA338880297 | ALPL | c.926T>A (p.Leu309His) c.73-2005T>A c.695T>A (p.Leu232His) c.761T>A (p.Leu254His) c.770T>A (p.Leu257His) | |
| 1 | g.21573728T>C | CA338880296 | ALPL | c.926T>C (p.Leu309Pro) c.73-2005T>C c.695T>C (p.Leu232Pro) c.761T>C (p.Leu254Pro) c.770T>C (p.Leu257Pro) | gnomAD v4 |
| 1 | g.21573728T>G | CA338880298 | ALPL | c.926T>G (p.Leu309Arg) c.73-2005T>G c.695T>G (p.Leu232Arg) c.761T>G (p.Leu254Arg) c.770T>G (p.Leu257Arg) | |
| 1 | g.21573729C>A | CA416532640 | ALPL | c.927C>A (p.Leu309=) c.73-2004C>A c.696C>A (p.Leu232=) c.762C>A (p.Leu254=) c.771C>A (p.Leu257=) | |
| 1 | g.21573729C= | CA1158018342 | ALPL | c.927C= (p.Leu309=) c.73-2004C= c.696C= (p.Leu232=) c.762C= (p.Leu254=) c.771C= (p.Leu257=) | |
| 1 | g.21573729C>G | CA416532641 | ALPL | c.927C>G (p.Leu309=) c.73-2004C>G c.696C>G (p.Leu232=) c.762C>G (p.Leu254=) c.771C>G (p.Leu257=) | |
| 1 | g.21573729C>T | CA666682 | ALPL | c.927C>T (p.Leu309=) c.73-2004C>T c.696C>T (p.Leu232=) c.762C>T (p.Leu254=) c.771C>T (p.Leu257=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21573730T>A | CA666683 | ALPL | c.928T>A (p.Ser310Thr) c.73-2003T>A c.697T>A (p.Ser233Thr) c.763T>A (p.Ser255Thr) c.772T>A (p.Ser258Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21573730T>C | CA338880299 | ALPL | c.928T>C (p.Ser310Pro) c.73-2003T>C c.697T>C (p.Ser233Pro) c.763T>C (p.Ser255Pro) c.772T>C (p.Ser258Pro) | |
| 1 | g.21573730T>G | CA338880300 | ALPL | c.928T>G (p.Ser310Ala) c.73-2003T>G c.697T>G (p.Ser233Ala) c.763T>G (p.Ser255Ala) c.772T>G (p.Ser258Ala) | |
| 1 | g.21573730T= | CA1158018343 | ALPL | c.928T= (p.Ser310=) c.73-2003T= c.697T= (p.Ser233=) c.763T= (p.Ser255=) c.772T= (p.Ser258=) | |
| 1 | g.21573731C>A | CA338880301 | ALPL | c.929C>A (p.Ser310Tyr) c.73-2002C>A c.698C>A (p.Ser233Tyr) c.764C>A (p.Ser255Tyr) c.773C>A (p.Ser258Tyr) | |
| 1 | g.21573731C>G | CA338880302 | ALPL | c.929C>G (p.Ser310Cys) c.73-2002C>G c.698C>G (p.Ser233Cys) c.764C>G (p.Ser255Cys) c.773C>G (p.Ser258Cys) | |
| 1 | g.21573731C>T | CA338880303 | ALPL | c.929C>T (p.Ser310Phe) c.73-2002C>T c.698C>T (p.Ser233Phe) c.764C>T (p.Ser255Phe) c.773C>T (p.Ser258Phe) | |
| 1 | g.21573732del | CA2739272347 | ALPL | c.930del (p.Glu311ArgfsTer?) c.73-2001del c.699del (p.Glu234ArgfsTer?) c.765del (p.Glu256ArgfsTer?) c.774del (p.Glu259ArgfsTer?) | ClinVar |
| 1 | g.21573732C>A | CA416532642 | ALPL | c.930C>A (p.Ser310=) c.73-2001C>A c.699C>A (p.Ser233=) c.765C>A (p.Ser255=) c.774C>A (p.Ser258=) | |
| 1 | g.21573732C= | CA1158018344 | ALPL | c.930C= (p.Ser310=) c.73-2001C= c.699C= (p.Ser233=) c.765C= (p.Ser255=) c.774C= (p.Ser258=) | |
| 1 | g.21573732C>G | CA416532643 | ALPL | c.930C>G (p.Ser310=) c.73-2001C>G c.699C>G (p.Ser233=) c.765C>G (p.Ser255=) c.774C>G (p.Ser258=) | gnomAD v4 |
| 1 | g.21573732C>T | CA666684 | ALPL | c.930C>T (p.Ser310=) c.73-2001C>T c.699C>T (p.Ser233=) c.765C>T (p.Ser255=) c.774C>T (p.Ser258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.21573733G>A | CA666685 | ALPL | c.931G>A (p.Glu311Lys) c.73-2000G>A c.700G>A (p.Glu234Lys) c.766G>A (p.Glu256Lys) c.775G>A (p.Glu259Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573733G>C | CA338880304 | ALPL | c.931G>C (p.Glu311Gln) c.73-2000G>C c.700G>C (p.Glu234Gln) c.766G>C (p.Glu256Gln) c.775G>C (p.Glu259Gln) | |
| 1 | g.21573733G= | CA1158018345 | ALPL | c.931G= (p.Glu311=) c.73-2000G= c.700G= (p.Glu234=) c.766G= (p.Glu256=) c.775G= (p.Glu259=) | |
| 1 | g.21573733G>T | CA338880305 | ALPL | c.931G>T (p.Glu311Ter) c.73-2000G>T c.700G>T (p.Glu234Ter) c.766G>T (p.Glu256Ter) c.775G>T (p.Glu259Ter) | gnomAD v4 |
| 1 | g.21573734A>C | CA338880306 | ALPL | c.932A>C (p.Glu311Ala) c.73-1999A>C c.701A>C (p.Glu234Ala) c.767A>C (p.Glu256Ala) c.776A>C (p.Glu259Ala) | |
| 1 | g.21573734A>G | CA338880307 | ALPL | c.932A>G (p.Glu311Gly) c.73-1999A>G c.701A>G (p.Glu234Gly) c.767A>G (p.Glu256Gly) c.776A>G (p.Glu259Gly) | |
| 1 | g.21573734A>T | CA338880308 | ALPL | c.932A>T (p.Glu311Val) c.73-1999A>T c.701A>T (p.Glu234Val) c.767A>T (p.Glu256Val) c.776A>T (p.Glu259Val) | |
| 1 | g.21573735G>A | CA416532644 | ALPL | c.933G>A (p.Glu311=) c.73-1998G>A c.702G>A (p.Glu234=) c.768G>A (p.Glu256=) c.777G>A (p.Glu259=) | ClinVar |
| 1 | g.21573735G>C | CA338880310 | ALPL | c.933G>C (p.Glu311Asp) c.73-1998G>C c.702G>C (p.Glu234Asp) c.768G>C (p.Glu256Asp) c.777G>C (p.Glu259Asp) | |
| 1 | g.21573735G>T | CA338880309 | ALPL | c.933G>T (p.Glu311Asp) c.73-1998G>T c.702G>T (p.Glu234Asp) c.768G>T (p.Glu256Asp) c.777G>T (p.Glu259Asp) | |
| 1 | g.21573736A>C | CA338880311 | ALPL | c.934A>C (p.Met312Leu) c.73-1997A>C c.703A>C (p.Met235Leu) c.769A>C (p.Met257Leu) c.778A>C (p.Met260Leu) | |
| 1 | g.21573736A>G | CA338880312 | ALPL | c.934A>G (p.Met312Val) c.73-1997A>G c.703A>G (p.Met235Val) c.769A>G (p.Met257Val) c.778A>G (p.Met260Val) | gnomAD v4 |
| 1 | g.21573736A>T | CA338880313 | ALPL | c.934A>T (p.Met312Leu) c.73-1997A>T c.703A>T (p.Met235Leu) c.769A>T (p.Met257Leu) c.778A>T (p.Met260Leu) | |
| 1 | g.21573736_21573739delinsATGG | CA1158018346 | ALPL | c.934_937delinsATGG (p.Met312=) c.73-1997_73-1994delinsATGG c.703_706delinsATGG (p.Met235=) c.769_772delinsATGG (p.Met257=) c.778_781delinsATGG (p.Met260=) | |
| 1 | g.21573737T>A | CA338880314 | ALPL | c.935T>A (p.Met312Lys) c.73-1996T>A c.704T>A (p.Met235Lys) c.770T>A (p.Met257Lys) c.779T>A (p.Met260Lys) | |
| 1 | g.21573737T>C | CA338880315 | ALPL | c.935T>C (p.Met312Thr) c.73-1996T>C c.704T>C (p.Met235Thr) c.770T>C (p.Met257Thr) c.779T>C (p.Met260Thr) | |
| 1 | g.21573737T>G | CA338880316 | ALPL | c.935T>G (p.Met312Arg) c.73-1996T>G c.704T>G (p.Met235Arg) c.770T>G (p.Met257Arg) c.779T>G (p.Met260Arg) | |
| 1 | g.21573746_21573748dup | CA2739272348 | ALPL | c.944_946dup (p.Val315_Ala316insVal) c.73-1987_73-1985dup c.713_715dup (p.Val238_Ala239insVal) c.779_781dup (p.Val260_Ala261insVal) c.788_790dup (p.Val263_Ala264insVal) | ClinVar |
| 1 | g.21573746_21573748del | CA19068172 | ALPL | c.944_946del (p.Val315del) c.73-1987_73-1985del c.713_715del (p.Val238del) c.779_781del (p.Val260del) c.788_790del (p.Val263del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573738G>A | CA338880317 | ALPL | c.936G>A (p.Met312Ile) c.73-1995G>A c.705G>A (p.Met235Ile) c.771G>A (p.Met257Ile) c.780G>A (p.Met260Ile) | COSMIC |
| 1 | g.21573738G>C | CA338880318 | ALPL | c.936G>C (p.Met312Ile) c.73-1995G>C c.705G>C (p.Met235Ile) c.771G>C (p.Met257Ile) c.780G>C (p.Met260Ile) | |
| 1 | g.21573738G>T | CA338880319 | ALPL | c.936G>T (p.Met312Ile) c.73-1995G>T c.705G>T (p.Met235Ile) c.771G>T (p.Met257Ile) c.780G>T (p.Met260Ile) | |
| 1 | g.21573739G>A | CA338880320 | ALPL | c.937G>A (p.Val313Met) c.73-1994G>A c.706G>A (p.Val236Met) c.772G>A (p.Val258Met) c.781G>A (p.Val261Met) | COSMIC |
| 1 | g.21573739G>C | CA666686 | ALPL | c.937G>C (p.Val313Leu) c.73-1994G>C c.706G>C (p.Val236Leu) c.772G>C (p.Val258Leu) c.781G>C (p.Val261Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573739G= | CA1146139909 | ALPL | c.937G= (p.Val313=) c.73-1994G= c.706G= (p.Val236=) c.772G= (p.Val258=) c.781G= (p.Val261=) | |
| 1 | g.21573739G>T | CA338880321 | ALPL | c.937G>T (p.Val313Leu) c.73-1994G>T c.706G>T (p.Val236Leu) c.772G>T (p.Val258Leu) c.781G>T (p.Val261Leu) | |
| 1 | g.21573740T>A | CA338880322 | ALPL | c.938T>A (p.Val313Glu) c.73-1993T>A c.707T>A (p.Val236Glu) c.773T>A (p.Val258Glu) c.782T>A (p.Val261Glu) | |
| 1 | g.21573740T>C | CA338880324 | ALPL | c.938T>C (p.Val313Ala) c.73-1993T>C c.707T>C (p.Val236Ala) c.773T>C (p.Val258Ala) c.782T>C (p.Val261Ala) | |
| 1 | g.21573740T>G | CA338880323 | ALPL | c.938T>G (p.Val313Gly) c.73-1993T>G c.707T>G (p.Val236Gly) c.773T>G (p.Val258Gly) c.782T>G (p.Val261Gly) | |
| 1 | g.21573741G>A | CA416532645 | ALPL | c.939G>A (p.Val313=) c.73-1992G>A c.708G>A (p.Val236=) c.774G>A (p.Val258=) c.783G>A (p.Val261=) | gnomAD v4 |
| 1 | g.21573741G>C | CA416532647 | ALPL | c.939G>C (p.Val313=) c.73-1992G>C c.708G>C (p.Val236=) c.774G>C (p.Val258=) c.783G>C (p.Val261=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21573741G= | CA1158018347 | ALPL | c.939G= (p.Val313=) c.73-1992G= c.708G= (p.Val236=) c.774G= (p.Val258=) c.783G= (p.Val261=) | |
| 1 | g.21573741G>T | CA416532646 | ALPL | c.939G>T (p.Val313=) c.73-1992G>T c.708G>T (p.Val236=) c.774G>T (p.Val258=) c.783G>T (p.Val261=) | |
| 1 | g.21573742G>A | CA338880325 | ALPL | c.940G>A (p.Val314Met) c.73-1991G>A c.709G>A (p.Val237Met) c.775G>A (p.Val259Met) c.784G>A (p.Val262Met) | |
| 1 | g.21573742G>C | CA338880326 | ALPL | c.940G>C (p.Val314Leu) c.73-1991G>C c.709G>C (p.Val237Leu) c.775G>C (p.Val259Leu) c.784G>C (p.Val262Leu) | |
| 1 | g.21573742G>T | CA338880327 | ALPL | c.940G>T (p.Val314Leu) c.73-1991G>T c.709G>T (p.Val237Leu) c.775G>T (p.Val259Leu) c.784G>T (p.Val262Leu) | ClinVar |
| 1 | g.21573743T>A | CA338880328 | ALPL | c.941T>A (p.Val314Glu) c.73-1990T>A c.710T>A (p.Val237Glu) c.776T>A (p.Val259Glu) c.785T>A (p.Val262Glu) | |
| 1 | g.21573743T>C | CA338880329 | ALPL | c.941T>C (p.Val314Ala) c.73-1990T>C c.710T>C (p.Val237Ala) c.776T>C (p.Val259Ala) c.785T>C (p.Val262Ala) | |
| 1 | g.21573743T>G | CA338880330 | ALPL | c.941T>G (p.Val314Gly) c.73-1990T>G c.710T>G (p.Val237Gly) c.776T>G (p.Val259Gly) c.785T>G (p.Val262Gly) | |
| 1 | g.21573744G>A | CA416532650 | ALPL | c.942G>A (p.Val314=) c.73-1989G>A c.711G>A (p.Val237=) c.777G>A (p.Val259=) c.786G>A (p.Val262=) | ClinVar dbSNP |
| 1 | g.21573744G>C | CA416532648 | ALPL | c.942G>C (p.Val314=) c.73-1989G>C c.711G>C (p.Val237=) c.777G>C (p.Val259=) c.786G>C (p.Val262=) | |
| 1 | g.21573744G>T | CA416532649 | ALPL | c.942G>T (p.Val314=) c.73-1989G>T c.711G>T (p.Val237=) c.777G>T (p.Val259=) c.786G>T (p.Val262=) | |
| 1 | g.21573745G>A | CA338880331 | ALPL | c.943G>A (p.Val315Met) c.73-1988G>A c.712G>A (p.Val238Met) c.778G>A (p.Val260Met) c.787G>A (p.Val263Met) | gnomAD v4 |
| 1 | g.21573745G>C | CA338880332 | ALPL | c.943G>C (p.Val315Leu) c.73-1988G>C c.712G>C (p.Val238Leu) c.778G>C (p.Val260Leu) c.787G>C (p.Val263Leu) | |
| 1 | g.21573745G>T | CA338880333 | ALPL | c.943G>T (p.Val315Leu) c.73-1988G>T c.712G>T (p.Val238Leu) c.778G>T (p.Val260Leu) c.787G>T (p.Val263Leu) | ClinVar |
| 1 | g.21573746T>A | CA338880334 | ALPL | c.944T>A (p.Val315Glu) c.73-1987T>A c.713T>A (p.Val238Glu) c.779T>A (p.Val260Glu) c.788T>A (p.Val263Glu) | |
| 1 | g.21573746T>C | CA338880335 | ALPL | c.944T>C (p.Val315Ala) c.73-1987T>C c.713T>C (p.Val238Ala) c.779T>C (p.Val260Ala) c.788T>C (p.Val263Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21573746T>G | CA338880336 | ALPL | c.944T>G (p.Val315Gly) c.73-1987T>G c.713T>G (p.Val238Gly) c.779T>G (p.Val260Gly) c.788T>G (p.Val263Gly) | |
| 1 | g.21573746T= | CA1158018348 | ALPL | c.944T= (p.Val315=) c.73-1987T= c.713T= (p.Val238=) c.779T= (p.Val260=) c.788T= (p.Val263=) | |
| 1 | g.21573747G>A | CA416532651 | ALPL | c.945G>A (p.Val315=) c.73-1986G>A c.714G>A (p.Val238=) c.780G>A (p.Val260=) c.789G>A (p.Val263=) | COSMIC |
| 1 | g.21573747G>C | CA416532653 | ALPL | c.945G>C (p.Val315=) c.73-1986G>C c.714G>C (p.Val238=) c.780G>C (p.Val260=) c.789G>C (p.Val263=) | |
| 1 | g.21573747G= | CA1158018349 | ALPL | c.945G= (p.Val315=) c.73-1986G= c.714G= (p.Val238=) c.780G= (p.Val260=) c.789G= (p.Val263=) | |
| 1 | g.21573747G>T | CA416532652 | ALPL | c.945G>T (p.Val315=) c.73-1986G>T c.714G>T (p.Val238=) c.780G>T (p.Val260=) c.789G>T (p.Val263=) | dbSNP |
| 1 | g.21573748G>A | CA338880339 | ALPL | c.946G>A (p.Ala316Thr) c.73-1985G>A c.715G>A (p.Ala239Thr) c.781G>A (p.Ala261Thr) c.790G>A (p.Ala264Thr) | |
| 1 | g.21573748G>C | CA338880337 | ALPL | c.946G>C (p.Ala316Pro) c.73-1985G>C c.715G>C (p.Ala239Pro) c.781G>C (p.Ala261Pro) c.790G>C (p.Ala264Pro) | |
| 1 | g.21573748G>T | CA338880338 | ALPL | c.946G>T (p.Ala316Ser) c.73-1985G>T c.715G>T (p.Ala239Ser) c.781G>T (p.Ala261Ser) c.790G>T (p.Ala264Ser) | |
| 1 | g.21573749C>A | CA338880340 | ALPL | c.947C>A (p.Ala316Asp) c.73-1984C>A c.716C>A (p.Ala239Asp) c.782C>A (p.Ala261Asp) c.791C>A (p.Ala264Asp) | |
| 1 | g.21573749C>G | CA338880341 | ALPL | c.947C>G (p.Ala316Gly) c.73-1984C>G c.716C>G (p.Ala239Gly) c.782C>G (p.Ala261Gly) c.791C>G (p.Ala264Gly) | |
| 1 | g.21573749C>T | CA338880342 | ALPL | c.947C>T (p.Ala316Val) c.73-1984C>T c.716C>T (p.Ala239Val) c.782C>T (p.Ala261Val) c.791C>T (p.Ala264Val) | |
| 1 | g.21573750C>A | CA416532656 | ALPL | c.948C>A (p.Ala316=) c.73-1983C>A c.717C>A (p.Ala239=) c.783C>A (p.Ala261=) c.792C>A (p.Ala264=) | gnomAD v4 |
| 1 | g.21573750C>G | CA416532654 | ALPL | c.948C>G (p.Ala316=) c.73-1983C>G c.717C>G (p.Ala239=) c.783C>G (p.Ala261=) c.792C>G (p.Ala264=) | |
| 1 | g.21573750C>T | CA416532655 | ALPL | c.948C>T (p.Ala316=) c.73-1983C>T c.717C>T (p.Ala239=) c.783C>T (p.Ala261=) c.792C>T (p.Ala264=) | |
| 1 | g.21573751A= | CA1158018350 | ALPL | c.949A= (p.Ile317=) c.73-1982A= c.718A= (p.Ile240=) c.784A= (p.Ile262=) c.793A= (p.Ile265=) | |
| 1 | g.21573751A>C | CA338880343 | ALPL | c.949A>C (p.Ile317Leu) c.73-1982A>C c.718A>C (p.Ile240Leu) c.784A>C (p.Ile262Leu) c.793A>C (p.Ile265Leu) | |
| 1 | g.21573751A>G | CA338880344 | ALPL | c.949A>G (p.Ile317Val) c.73-1982A>G c.718A>G (p.Ile240Val) c.784A>G (p.Ile262Val) c.793A>G (p.Ile265Val) | |
| 1 | g.21573751A>T | CA338880345 | ALPL | c.949A>T (p.Ile317Phe) c.73-1982A>T c.718A>T (p.Ile240Phe) c.784A>T (p.Ile262Phe) c.793A>T (p.Ile265Phe) | ClinVar dbSNP |
| 1 | g.21573752T>A | CA338880346 | ALPL | c.950T>A (p.Ile317Asn) c.73-1981T>A c.719T>A (p.Ile240Asn) c.785T>A (p.Ile262Asn) c.794T>A (p.Ile265Asn) | |
| 1 | g.21573752T>C | CA338880347 | ALPL | c.950T>C (p.Ile317Thr) c.73-1981T>C c.719T>C (p.Ile240Thr) c.785T>C (p.Ile262Thr) c.794T>C (p.Ile265Thr) | |
| 1 | g.21573752T>G | CA338880348 | ALPL | c.950T>G (p.Ile317Ser) c.73-1981T>G c.719T>G (p.Ile240Ser) c.785T>G (p.Ile262Ser) c.794T>G (p.Ile265Ser) | |
| 1 | g.21573753C>A | CA416532657 | ALPL | c.951C>A (p.Ile317=) c.73-1980C>A c.720C>A (p.Ile240=) c.786C>A (p.Ile262=) c.795C>A (p.Ile265=) | |
| 1 | g.21573753C>G | CA338880349 | ALPL | c.951C>G (p.Ile317Met) c.73-1980C>G c.720C>G (p.Ile240Met) c.786C>G (p.Ile262Met) c.795C>G (p.Ile265Met) | |
| 1 | g.21573753C>T | CA416532658 | ALPL | c.951C>T (p.Ile317=) c.73-1980C>T c.720C>T (p.Ile240=) c.786C>T (p.Ile262=) c.795C>T (p.Ile265=) | ClinVar |
| 1 | g.21573754C>A | CA666687 | ALPL | c.952C>A (p.Gln318Lys) c.73-1979C>A c.721C>A (p.Gln241Lys) c.787C>A (p.Gln263Lys) c.796C>A (p.Gln266Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21573754C= | CA1158018351 | ALPL | c.952C= (p.Gln318=) c.73-1979C= c.721C= (p.Gln241=) c.787C= (p.Gln263=) c.796C= (p.Gln266=) | |
| 1 | g.21573754C>G | CA338880351 | ALPL | c.952C>G (p.Gln318Glu) c.73-1979C>G c.721C>G (p.Gln241Glu) c.787C>G (p.Gln263Glu) c.796C>G (p.Gln266Glu) | |
| 1 | g.21573754C>T | CA338880350 | ALPL | c.952C>T (p.Gln318Ter) c.73-1979C>T c.721C>T (p.Gln241Ter) c.787C>T (p.Gln263Ter) c.796C>T (p.Gln266Ter) | ClinVar |
| 1 | g.21573754_21573756del | CA2574252958 | ALPL | c.952_954del (p.Gln318del) c.73-1979_73-1977del c.721_723del (p.Gln241del) c.787_789del (p.Gln263del) c.796_798del (p.Gln266del) | |
| 1 | g.21573755A>C | CA338880352 | ALPL | c.953A>C (p.Gln318Pro) c.73-1978A>C c.722A>C (p.Gln241Pro) c.788A>C (p.Gln263Pro) c.797A>C (p.Gln266Pro) | |
| 1 | g.21573755A>G | CA338880354 | ALPL | c.953A>G (p.Gln318Arg) c.73-1978A>G c.722A>G (p.Gln241Arg) c.788A>G (p.Gln263Arg) c.797A>G (p.Gln266Arg) | |
| 1 | g.21573755A>T | CA338880353 | ALPL | c.953A>T (p.Gln318Leu) c.73-1978A>T c.722A>T (p.Gln241Leu) c.788A>T (p.Gln263Leu) c.797A>T (p.Gln266Leu) | |
| 1 | g.21573756G>A | CA416532659 | ALPL | c.954G>A (p.Gln318=) c.73-1977G>A c.723G>A (p.Gln241=) c.789G>A (p.Gln263=) c.798G>A (p.Gln266=) | ClinVar |
| 1 | g.21573756G>C | CA338880355 | ALPL | c.954G>C (p.Gln318His) c.73-1977G>C c.723G>C (p.Gln241His) c.789G>C (p.Gln263His) c.798G>C (p.Gln266His) | gnomAD v4 |
| 1 | g.21573756G>T | CA338880356 | ALPL | c.954G>T (p.Gln318His) c.73-1977G>T c.723G>T (p.Gln241His) c.789G>T (p.Gln263His) c.798G>T (p.Gln266His) | |
| 1 | g.21573757A= | CA1158018352 | ALPL | c.955A= (p.Ile319=) c.73-1976A= c.724A= (p.Ile242=) c.790A= (p.Ile264=) c.799A= (p.Ile267=) | |
| 1 | g.21573757A>C | CA338880357 | ALPL | c.955A>C (p.Ile319Leu) c.73-1976A>C c.724A>C (p.Ile242Leu) c.790A>C (p.Ile264Leu) c.799A>C (p.Ile267Leu) | |
| 1 | g.21573757A>G | CA338880358 | ALPL | c.955A>G (p.Ile319Val) c.73-1976A>G c.724A>G (p.Ile242Val) c.790A>G (p.Ile264Val) c.799A>G (p.Ile267Val) | dbSNP gnomAD v2 |
| 1 | g.21573757A>T | CA338880359 | ALPL | c.955A>T (p.Ile319Phe) c.73-1976A>T c.724A>T (p.Ile242Phe) c.790A>T (p.Ile264Phe) c.799A>T (p.Ile267Phe) | gnomAD v4 |
| 1 | g.21573758T>A | CA338880360 | ALPL | c.956T>A (p.Ile319Asn) c.73-1975T>A c.725T>A (p.Ile242Asn) c.791T>A (p.Ile264Asn) c.800T>A (p.Ile267Asn) | |
| 1 | g.21573758T>C | CA338880361 | ALPL | c.956T>C (p.Ile319Thr) c.73-1975T>C c.725T>C (p.Ile242Thr) c.791T>C (p.Ile264Thr) c.800T>C (p.Ile267Thr) | |
| 1 | g.21573758T>G | CA338880362 | ALPL | c.956T>G (p.Ile319Ser) c.73-1975T>G c.725T>G (p.Ile242Ser) c.791T>G (p.Ile264Ser) c.800T>G (p.Ile267Ser) | |
| 1 | g.21573759C>A | CA416532660 | ALPL | c.957C>A (p.Ile319=) c.73-1974C>A c.726C>A (p.Ile242=) c.792C>A (p.Ile264=) c.801C>A (p.Ile267=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21573759C= | CA1158018353 | ALPL | c.957C= (p.Ile319=) c.73-1974C= c.726C= (p.Ile242=) c.792C= (p.Ile264=) c.801C= (p.Ile267=) | |
| 1 | g.21573759C>G | CA338880363 | ALPL | c.957C>G (p.Ile319Met) c.73-1974C>G c.726C>G (p.Ile242Met) c.792C>G (p.Ile264Met) c.801C>G (p.Ile267Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573759C>T | CA416532661 | ALPL | c.957C>T (p.Ile319=) c.73-1974C>T c.726C>T (p.Ile242=) c.792C>T (p.Ile264=) c.801C>T (p.Ile267=) | |
| 1 | g.21573760C>A | CA338880364 | ALPL | c.958C>A (p.Leu320Met) c.73-1973C>A c.727C>A (p.Leu243Met) c.793C>A (p.Leu265Met) c.802C>A (p.Leu268Met) | |
| 1 | g.21573760C= | CA1158018354 | ALPL | c.958C= (p.Leu320=) c.73-1973C= c.727C= (p.Leu243=) c.793C= (p.Leu265=) c.802C= (p.Leu268=) | |
| 1 | g.21573760C>G | CA666688 | ALPL | c.958C>G (p.Leu320Val) c.73-1973C>G c.727C>G (p.Leu243Val) c.793C>G (p.Leu265Val) c.802C>G (p.Leu268Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21573760C>T | CA416532662 | ALPL | c.958C>T (p.Leu320=) c.73-1973C>T c.727C>T (p.Leu243=) c.793C>T (p.Leu265=) c.802C>T (p.Leu268=) | |
| 1 | g.21573761T>A | CA338880367 | ALPL | c.959T>A (p.Leu320Gln) c.73-1972T>A c.728T>A (p.Leu243Gln) c.794T>A (p.Leu265Gln) c.803T>A (p.Leu268Gln) | |
| 1 | g.21573761T>C | CA338880366 | ALPL | c.959T>C (p.Leu320Pro) c.73-1972T>C c.728T>C (p.Leu243Pro) c.794T>C (p.Leu265Pro) c.803T>C (p.Leu268Pro) | |
| 1 | g.21573761T>G | CA338880365 | ALPL | c.959T>G (p.Leu320Arg) c.73-1972T>G c.728T>G (p.Leu243Arg) c.794T>G (p.Leu265Arg) c.803T>G (p.Leu268Arg) | |
| 1 | g.21573762G>A | CA416532665 | ALPL | c.960G>A (p.Leu320=) c.73-1971G>A c.729G>A (p.Leu243=) c.795G>A (p.Leu265=) c.804G>A (p.Leu268=) | |
| 1 | g.21573762G>C | CA416532663 | ALPL | c.960G>C (p.Leu320=) c.73-1971G>C c.729G>C (p.Leu243=) c.795G>C (p.Leu265=) c.804G>C (p.Leu268=) | |
| 1 | g.21573762G>T | CA416532664 | ALPL | c.960G>T (p.Leu320=) c.73-1971G>T c.729G>T (p.Leu243=) c.795G>T (p.Leu265=) c.804G>T (p.Leu268=) | |
| 1 | g.21573763_21573764del | CA913072853 | ALPL | c.961_962del (p.Arg321GlufsTer16) c.73-1970_73-1969del c.730_731del (p.Arg244GlufsTer16) c.796_797del (p.Arg266GlufsTer16) c.961_962del (p.Arg321GlufsTer20) c.805_806del (p.Arg269GlufsTer16) | |
| 1 | g.21573762_21573763insAT | CA2568446271 | ALPL | c.960_961insAT (p.Arg321IlefsTer?) c.73-1971_73-1970insAT c.729_730insAT (p.Arg244IlefsTer?) c.795_796insAT (p.Arg266IlefsTer?) c.804_805insAT (p.Arg269IlefsTer?) | |
| 1 | g.21573763C>A | CA416532666 | ALPL | c.961C>A (p.Arg321=) c.73-1970C>A c.730C>A (p.Arg244=) c.796C>A (p.Arg266=) c.805C>A (p.Arg269=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21573763C= | CA1143396778 | ALPL | c.961C= (p.Arg321=) c.73-1970C= c.730C= (p.Arg244=) c.796C= (p.Arg266=) c.805C= (p.Arg269=) | |
| 1 | g.21573763C>G | CA338880368 | ALPL | c.961C>G (p.Arg321Gly) c.73-1970C>G c.730C>G (p.Arg244Gly) c.796C>G (p.Arg266Gly) c.805C>G (p.Arg269Gly) | |
| 1 | g.21573763C>T | CA666689 | ALPL | c.961C>T (p.Arg321Trp) c.73-1970C>T c.730C>T (p.Arg244Trp) c.796C>T (p.Arg266Trp) c.805C>T (p.Arg269Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573763_21573764delinsCG | CA1158018355 | ALPL | c.961_962delinsCG (p.Arg321=) c.73-1970_73-1969delinsCG c.730_731delinsCG (p.Arg244=) c.796_797delinsCG (p.Arg266=) c.805_806delinsCG (p.Arg269=) | |
| 1 | g.21573764G>A | CA666690 | ALPL | c.962G>A (p.Arg321Gln) c.73-1969G>A c.731G>A (p.Arg244Gln) c.797G>A (p.Arg266Gln) c.806G>A (p.Arg269Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573764G>C | CA338880369 | ALPL | c.962G>C (p.Arg321Pro) c.73-1969G>C c.731G>C (p.Arg244Pro) c.797G>C (p.Arg266Pro) c.806G>C (p.Arg269Pro) | |
| 1 | g.21573764G= | CA1141632265 | ALPL | c.962G= (p.Arg321=) c.73-1969G= c.731G= (p.Arg244=) c.797G= (p.Arg266=) c.806G= (p.Arg269=) | |
| 1 | g.21573764G>T | CA338880370 | ALPL | c.962G>T (p.Arg321Leu) c.73-1969G>T c.731G>T (p.Arg244Leu) c.797G>T (p.Arg266Leu) c.806G>T (p.Arg269Leu) | |
| 1 | g.21573765dup | CA2643931028 | ALPL | c.963dup (p.Lys322GlufsTer16) c.73-1968dup c.732dup (p.Lys245GlufsTer16) c.798dup (p.Lys267GlufsTer16) c.963dup (p.Lys322GlufsTer20) c.807dup (p.Lys270GlufsTer16) | gnomAD v4 |
| 1 | g.21573765del | CA658820989 | ALPL | c.963del (p.Lys322ArgfsTer?) c.73-1968del c.732del (p.Lys245ArgfsTer?) c.798del (p.Lys267ArgfsTer?) c.807del (p.Lys270ArgfsTer?) | ClinVar dbSNP |
| 1 | g.21573764_21573767delinsGGAA | CA1158018356 | ALPL | c.962_965delinsGGAA (p.Arg321=) c.73-1969_73-1966delinsGGAA c.731_734delinsGGAA (p.Arg244=) c.797_800delinsGGAA (p.Arg266=) c.806_809delinsGGAA (p.Arg269=) | |
| 1 | g.21573765G>A | CA666691 | ALPL | c.963G>A (p.Arg321=) c.73-1968G>A c.732G>A (p.Arg244=) c.798G>A (p.Arg266=) c.807G>A (p.Arg269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21573765G>C | CA416532670 | ALPL | c.963G>C (p.Arg321=) c.73-1968G>C c.732G>C (p.Arg244=) c.798G>C (p.Arg266=) c.807G>C (p.Arg269=) | |
| 1 | g.21573765G= | CA1158018357 | ALPL | c.963G= (p.Arg321=) c.73-1968G= c.732G= (p.Arg244=) c.798G= (p.Arg266=) c.807G= (p.Arg269=) | |
| 1 | g.21573765G>T | CA416532669 | ALPL | c.963G>T (p.Arg321=) c.73-1968G>T c.732G>T (p.Arg244=) c.798G>T (p.Arg266=) c.807G>T (p.Arg269=) | |
| 1 | g.21573768_21573770del | CA731314557 | ALPL | c.966_968del (p.Lys322del) c.73-1965_73-1963del c.735_737del (p.Lys245del) c.801_803del (p.Lys267del) c.810_812del (p.Lys270del) | dbSNP gnomAD v4 |
| 1 | g.21573766A>C | CA338880371 | ALPL | c.964A>C (p.Lys322Gln) c.73-1967A>C c.733A>C (p.Lys245Gln) c.799A>C (p.Lys267Gln) c.808A>C (p.Lys270Gln) | |
| 1 | g.21573766A>G | CA338880372 | ALPL | c.964A>G (p.Lys322Glu) c.73-1967A>G c.733A>G (p.Lys245Glu) c.799A>G (p.Lys267Glu) c.808A>G (p.Lys270Glu) | |
| 1 | g.21573766A>T | CA338880373 | ALPL | c.964A>T (p.Lys322Ter) c.73-1967A>T c.733A>T (p.Lys245Ter) c.799A>T (p.Lys267Ter) c.808A>T (p.Lys270Ter) | |
| 1 | g.21573767A>C | CA338880374 | ALPL | c.965A>C (p.Lys322Thr) c.73-1966A>C c.734A>C (p.Lys245Thr) c.800A>C (p.Lys267Thr) c.809A>C (p.Lys270Thr) | |
| 1 | g.21573767A>G | CA338880375 | ALPL | c.965A>G (p.Lys322Arg) c.73-1966A>G c.734A>G (p.Lys245Arg) c.800A>G (p.Lys267Arg) c.809A>G (p.Lys270Arg) | |
| 1 | g.21573767A>T | CA338880376 | ALPL | c.965A>T (p.Lys322Met) c.73-1966A>T c.734A>T (p.Lys245Met) c.800A>T (p.Lys267Met) c.809A>T (p.Lys270Met) | |
| 1 | g.21573768G>A | CA666692 | ALPL | c.966G>A (p.Lys322=) c.73-1965G>A c.735G>A (p.Lys245=) c.801G>A (p.Lys267=) c.810G>A (p.Lys270=) | dbSNP ExAC gnomAD v2 |
| 1 | g.21573768G>C | CA338880378 | ALPL | c.966G>C (p.Lys322Asn) c.73-1965G>C c.735G>C (p.Lys245Asn) c.801G>C (p.Lys267Asn) c.810G>C (p.Lys270Asn) | |
| 1 | g.21573768G= | CA1158018358 | ALPL | c.966G= (p.Lys322=) c.73-1965G= c.735G= (p.Lys245=) c.801G= (p.Lys267=) c.810G= (p.Lys270=) | |
| 1 | g.21573768G>T | CA338880377 | ALPL | c.966G>T (p.Lys322Asn) c.73-1965G>T c.735G>T (p.Lys245Asn) c.801G>T (p.Lys267Asn) c.810G>T (p.Lys270Asn) | |
| 1 | g.21573769A>C | CA338880379 | ALPL | c.967A>C (p.Asn323His) c.73-1964A>C c.736A>C (p.Asn246His) c.802A>C (p.Asn268His) c.811A>C (p.Asn271His) | |
| 1 | g.21573769A>G | CA338880380 | ALPL | c.967A>G (p.Asn323Asp) c.73-1964A>G c.736A>G (p.Asn246Asp) c.802A>G (p.Asn268Asp) c.811A>G (p.Asn271Asp) | ClinVar dbSNP |
| 1 | g.21573769A>T | CA338880381 | ALPL | c.967A>T (p.Asn323Tyr) c.73-1964A>T c.736A>T (p.Asn246Tyr) c.802A>T (p.Asn268Tyr) c.811A>T (p.Asn271Tyr) | |
| 1 | g.21573770A>C | CA338880382 | ALPL | c.968A>C (p.Asn323Thr) c.73-1963A>C c.737A>C (p.Asn246Thr) c.803A>C (p.Asn268Thr) c.812A>C (p.Asn271Thr) | |
| 1 | g.21573770A>G | CA338880383 | ALPL | c.968A>G (p.Asn323Ser) c.73-1963A>G c.737A>G (p.Asn246Ser) c.803A>G (p.Asn268Ser) c.812A>G (p.Asn271Ser) | |
| 1 | g.21573770A>T | CA338880384 | ALPL | c.968A>T (p.Asn323Ile) c.73-1963A>T c.737A>T (p.Asn246Ile) c.803A>T (p.Asn268Ile) c.812A>T (p.Asn271Ile) | ClinVar dbSNP |
| 1 | g.21573771C>A | CA338880386 | ALPL | c.969C>A (p.Asn323Lys) c.73-1962C>A c.738C>A (p.Asn246Lys) c.804C>A (p.Asn268Lys) c.813C>A (p.Asn271Lys) | ClinVar gnomAD v4 |
| 1 | g.21573771C>G | CA338880385 | ALPL | c.969C>G (p.Asn323Lys) c.73-1962C>G c.738C>G (p.Asn246Lys) c.804C>G (p.Asn268Lys) c.813C>G (p.Asn271Lys) | ClinVar |
| 1 | g.21573771C>T | CA416532676 | ALPL | c.969C>T (p.Asn323=) c.73-1962C>T c.738C>T (p.Asn246=) c.804C>T (p.Asn268=) c.813C>T (p.Asn271=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21573772C>A | CA338880387 | ALPL | c.970C>A (p.Pro324Thr) c.73-1961C>A c.739C>A (p.Pro247Thr) c.805C>A (p.Pro269Thr) c.814C>A (p.Pro272Thr) | |
| 1 | g.21573772C= | CA1158018359 | ALPL | c.970C= (p.Pro324=) c.73-1961C= c.739C= (p.Pro247=) c.805C= (p.Pro269=) c.814C= (p.Pro272=) | |
| 1 | g.21573772C>G | CA338880388 | ALPL | c.970C>G (p.Pro324Ala) c.73-1961C>G c.739C>G (p.Pro247Ala) c.805C>G (p.Pro269Ala) c.814C>G (p.Pro272Ala) | ClinVar dbSNP |
| 1 | g.21573772C>T | CA338880390 | ALPL | c.970C>T (p.Pro324Ser) c.73-1961C>T c.739C>T (p.Pro247Ser) c.805C>T (p.Pro269Ser) c.814C>T (p.Pro272Ser) | |
| 1 | g.21573773C>A | CA338880391 | ALPL | c.971C>A (p.Pro324His) c.73-1960C>A c.740C>A (p.Pro247His) c.806C>A (p.Pro269His) c.815C>A (p.Pro272His) | |
| 1 | g.21573773C>G | CA338880392 | ALPL | c.971C>G (p.Pro324Arg) c.73-1960C>G c.740C>G (p.Pro247Arg) c.806C>G (p.Pro269Arg) c.815C>G (p.Pro272Arg) | gnomAD v4 |
| 1 | g.21573773C>T | CA338880393 | ALPL | c.971C>T (p.Pro324Leu) c.73-1960C>T c.740C>T (p.Pro247Leu) c.806C>T (p.Pro269Leu) c.815C>T (p.Pro272Leu) | gnomAD v4 |
| 1 | g.21573774C>A | CA416532680 | ALPL | c.972C>A (p.Pro324=) c.73-1959C>A c.741C>A (p.Pro247=) c.807C>A (p.Pro269=) c.816C>A (p.Pro272=) | |
| 1 | g.21573774C>G | CA416532678 | ALPL | c.972C>G (p.Pro324=) c.73-1959C>G c.741C>G (p.Pro247=) c.807C>G (p.Pro269=) c.816C>G (p.Pro272=) | |
| 1 | g.21573774C>T | CA416532679 | ALPL | c.972C>T (p.Pro324=) c.73-1959C>T c.741C>T (p.Pro247=) c.807C>T (p.Pro269=) c.816C>T (p.Pro272=) | |
| 1 | g.21573775A>C | CA338880394 | ALPL | c.973A>C (p.Lys325Gln) c.73-1958A>C c.742A>C (p.Lys248Gln) c.808A>C (p.Lys270Gln) c.817A>C (p.Lys273Gln) | |
| 1 | g.21573775A>G | CA338880396 | ALPL | c.973A>G (p.Lys325Glu) c.73-1958A>G c.742A>G (p.Lys248Glu) c.808A>G (p.Lys270Glu) c.817A>G (p.Lys273Glu) | |
| 1 | g.21573775A>T | CA338880395 | ALPL | c.973A>T (p.Lys325Ter) c.73-1958A>T c.742A>T (p.Lys248Ter) c.808A>T (p.Lys270Ter) c.817A>T (p.Lys273Ter) | |
| 1 | g.21573776A>C | CA338880397 | ALPL | c.974A>C (p.Lys325Thr) c.73-1957A>C c.743A>C (p.Lys248Thr) c.809A>C (p.Lys270Thr) c.818A>C (p.Lys273Thr) | |
| 1 | g.21573776A>G | CA338880398 | ALPL | c.974A>G (p.Lys325Arg) c.73-1957A>G c.743A>G (p.Lys248Arg) c.809A>G (p.Lys270Arg) c.818A>G (p.Lys273Arg) | |
| 1 | g.21573776A>T | CA338880399 | ALPL | c.974A>T (p.Lys325Ile) c.73-1957A>T c.743A>T (p.Lys248Ile) c.809A>T (p.Lys270Ile) c.818A>T (p.Lys273Ile) | |
| 1 | g.21573777A>C | CA338880400 | ALPL | c.975A>C (p.Lys325Asn) c.73-1956A>C c.744A>C (p.Lys248Asn) c.810A>C (p.Lys270Asn) c.819A>C (p.Lys273Asn) | |
| 1 | g.21573777A>G | CA416532681 | ALPL | c.975A>G (p.Lys325=) c.73-1956A>G c.744A>G (p.Lys248=) c.810A>G (p.Lys270=) c.819A>G (p.Lys273=) | |
| 1 | g.21573777A>T | CA338880401 | ALPL | c.975A>T (p.Lys325Asn) c.73-1956A>T c.744A>T (p.Lys248Asn) c.810A>T (p.Lys270Asn) c.819A>T (p.Lys273Asn) | COSMIC |
| 1 | g.21573778G>A | CA338880402 | ALPL | c.976G>A (p.Gly326Ser) c.73-1955G>A c.745G>A (p.Gly249Ser) c.811G>A (p.Gly271Ser) c.820G>A (p.Gly274Ser) | |
| 1 | g.21573778G>C | CA338880403 | ALPL | c.976G>C (p.Gly326Arg) c.73-1955G>C c.745G>C (p.Gly249Arg) c.811G>C (p.Gly271Arg) c.820G>C (p.Gly274Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21573778G= | CA1158018360 | ALPL | c.976G= (p.Gly326=) c.73-1955G= c.745G= (p.Gly249=) c.811G= (p.Gly271=) c.820G= (p.Gly274=) | |
| 1 | g.21573778G>T | CA338880404 | ALPL | c.976G>T (p.Gly326Cys) c.73-1955G>T c.745G>T (p.Gly249Cys) c.811G>T (p.Gly271Cys) c.820G>T (p.Gly274Cys) | |
| 1 | g.21573779G>A | CA338880405 | ALPL | c.977G>A (p.Gly326Asp) c.73-1954G>A c.746G>A (p.Gly249Asp) c.812G>A (p.Gly271Asp) c.821G>A (p.Gly274Asp) | |
| 1 | g.21573779G>C | CA338880406 | ALPL | c.977G>C (p.Gly326Ala) c.73-1954G>C c.746G>C (p.Gly249Ala) c.812G>C (p.Gly271Ala) c.821G>C (p.Gly274Ala) | |
| 1 | g.21573779G= | CA1148264970 | ALPL | c.977G= (p.Gly326=) c.73-1954G= c.746G= (p.Gly249=) c.812G= (p.Gly271=) c.821G= (p.Gly274=) | |
| 1 | g.21573779G>T | CA666694 | ALPL | c.977G>T (p.Gly326Val) c.73-1954G>T c.746G>T (p.Gly249Val) c.812G>T (p.Gly271Val) c.821G>T (p.Gly274Val) | dbSNP ExAC gnomAD v2 |
| 1 | g.21573779_21573782delinsGCTT | CA1158018361 | ALPL | c.977_980delinsGCTT (p.Gly326=) c.73-1954_73-1951delinsGCTT c.746_749delinsGCTT (p.Gly249=) c.812_815delinsGCTT (p.Gly271=) c.821_824delinsGCTT (p.Gly274=) | |
| 1 | g.21573780C>A | CA416532683 | ALPL | c.978C>A (p.Gly326=) c.73-1953C>A c.747C>A (p.Gly249=) c.813C>A (p.Gly271=) c.822C>A (p.Gly274=) | |
| 1 | g.21573780C>G | CA416532684 | ALPL | c.978C>G (p.Gly326=) c.73-1953C>G c.747C>G (p.Gly249=) c.813C>G (p.Gly271=) c.822C>G (p.Gly274=) | |
| 1 | g.21573780C>T | CA416532685 | ALPL | c.978C>T (p.Gly326=) c.73-1953C>T c.747C>T (p.Gly249=) c.813C>T (p.Gly271=) c.822C>T (p.Gly274=) | gnomAD v4 |
| 1 | g.21573786_21573788del | CA666693 | ALPL | c.984_986del (p.Phe328del) c.73-1947_73-1945del c.753_755del (p.Phe251del) c.819_821del (p.Phe273del) c.828_830del (p.Phe276del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573781T>A | CA338880407 | ALPL | c.979T>A (p.Phe327Ile) c.73-1952T>A c.748T>A (p.Phe250Ile) c.814T>A (p.Phe272Ile) c.823T>A (p.Phe275Ile) | |
| 1 | g.21573781T>C | CA256930 | ALPL | c.979T>C (p.Phe327Leu) c.73-1952T>C c.748T>C (p.Phe250Leu) c.814T>C (p.Phe272Leu) c.823T>C (p.Phe275Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573781T>G | CA338880408 | ALPL | c.979T>G (p.Phe327Val) c.73-1952T>G c.748T>G (p.Phe250Val) c.814T>G (p.Phe272Val) c.823T>G (p.Phe275Val) | gnomAD v4 |
| 1 | g.21573781T= | CA1141580645 | ALPL | c.979T= (p.Phe327=) c.73-1952T= c.748T= (p.Phe250=) c.814T= (p.Phe272=) c.823T= (p.Phe275=) | |
| 1 | g.21573781_21573782delinsGG | CA2580061457 | ALPL | c.979_980delinsGG (p.Phe327Gly) c.73-1952_73-1951delinsGG c.748_749delinsGG (p.Phe250Gly) c.814_815delinsGG (p.Phe272Gly) c.823_824delinsGG (p.Phe275Gly) | ClinVar |
| 1 | g.21573782T>A | CA338880409 | ALPL | c.980T>A (p.Phe327Tyr) c.73-1951T>A c.749T>A (p.Phe250Tyr) c.815T>A (p.Phe272Tyr) c.824T>A (p.Phe275Tyr) | |
| 1 | g.21573782T>C | CA338880410 | ALPL | c.980T>C (p.Phe327Ser) c.73-1951T>C c.749T>C (p.Phe250Ser) c.815T>C (p.Phe272Ser) c.824T>C (p.Phe275Ser) | |
| 1 | g.21573782T>G | CA666695 | ALPL | c.980T>G (p.Phe327Cys) c.73-1951T>G c.749T>G (p.Phe250Cys) c.815T>G (p.Phe272Cys) c.824T>G (p.Phe275Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21573782T= | CA1158018362 | ALPL | c.980T= (p.Phe327=) c.73-1951T= c.749T= (p.Phe250=) c.815T= (p.Phe272=) c.824T= (p.Phe275=) | |
| 1 | g.21573783C>A | CA338880411 | ALPL | c.981C>A (p.Phe327Leu) c.73-1950C>A c.750C>A (p.Phe250Leu) c.816C>A (p.Phe272Leu) c.825C>A (p.Phe275Leu) | gnomAD v4 |
| 1 | g.21573783C>G | CA338880412 | ALPL | c.981C>G (p.Phe327Leu) c.73-1950C>G c.750C>G (p.Phe250Leu) c.816C>G (p.Phe272Leu) c.825C>G (p.Phe275Leu) | ClinVar |
| 1 | g.21573783C>T | CA416532686 | ALPL | c.981C>T (p.Phe327=) c.73-1950C>T c.750C>T (p.Phe250=) c.816C>T (p.Phe272=) c.825C>T (p.Phe275=) | gnomAD v4 |
| 1 | g.21573784T>A | CA338880413 | ALPL | c.982T>A (p.Phe328Ile) c.73-1949T>A c.751T>A (p.Phe251Ile) c.817T>A (p.Phe273Ile) c.826T>A (p.Phe276Ile) | |
| 1 | g.21573784T>C | CA338880414 | ALPL | c.982T>C (p.Phe328Leu) c.73-1949T>C c.751T>C (p.Phe251Leu) c.817T>C (p.Phe273Leu) c.826T>C (p.Phe276Leu) | |
| 1 | g.21573784T>G | CA338880415 | ALPL | c.982T>G (p.Phe328Val) c.73-1949T>G c.751T>G (p.Phe251Val) c.817T>G (p.Phe273Val) c.826T>G (p.Phe276Val) | |
| 1 | g.21573785T>A | CA338880416 | ALPL | c.983T>A (p.Phe328Tyr) c.73-1948T>A c.752T>A (p.Phe251Tyr) c.818T>A (p.Phe273Tyr) c.827T>A (p.Phe276Tyr) | |
| 1 | g.21573785T>C | CA338880417 | ALPL | c.983T>C (p.Phe328Ser) c.73-1948T>C c.752T>C (p.Phe251Ser) c.818T>C (p.Phe273Ser) c.827T>C (p.Phe276Ser) | |
| 1 | g.21573785T>G | CA338880418 | ALPL | c.983T>G (p.Phe328Cys) c.73-1948T>G c.752T>G (p.Phe251Cys) c.818T>G (p.Phe273Cys) c.827T>G (p.Phe276Cys) | |
| 1 | g.21573786C>A | CA338880419 | ALPL | c.984C>A (p.Phe328Leu) c.73-1947C>A c.753C>A (p.Phe251Leu) c.819C>A (p.Phe273Leu) c.828C>A (p.Phe276Leu) | |
| 1 | g.21573786C= | CA1158018363 | ALPL | c.984C= (p.Phe328=) c.73-1947C= c.753C= (p.Phe251=) c.819C= (p.Phe273=) c.828C= (p.Phe276=) | |
| 1 | g.21573786C>G | CA338880420 | ALPL | c.984C>G (p.Phe328Leu) c.73-1947C>G c.753C>G (p.Phe251Leu) c.819C>G (p.Phe273Leu) c.828C>G (p.Phe276Leu) | ClinVar gnomAD v4 |
| 1 | g.21573786C>T | CA416532687 | ALPL | c.984C>T (p.Phe328=) c.73-1947C>T c.753C>T (p.Phe251=) c.819C>T (p.Phe273=) c.828C>T (p.Phe276=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21573787T>A | CA338880421 | ALPL | c.985T>A (p.Leu329Met) c.73-1946T>A c.754T>A (p.Leu252Met) c.820T>A (p.Leu274Met) c.829T>A (p.Leu277Met) | |
| 1 | g.21573787T>C | CA416532689 | ALPL | c.985T>C (p.Leu329=) c.73-1946T>C c.754T>C (p.Leu252=) c.820T>C (p.Leu274=) c.829T>C (p.Leu277=) | gnomAD v4 |
| 1 | g.21573787T>G | CA338880422 | ALPL | c.985T>G (p.Leu329Val) c.73-1946T>G c.754T>G (p.Leu252Val) c.820T>G (p.Leu274Val) c.829T>G (p.Leu277Val) |