| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21570326del | CA2574253164 | ALPL | c.814del (p.Arg272AlafsTer5) c.24del c.583del (p.Arg195AlafsTer5) c.649del (p.Arg217AlafsTer5) c.658del (p.Arg220AlafsTer5) | ClinVar gnomAD v4 |
| 1 | g.21570326C>A | CA338879916 | ALPL | c.814C>A (p.Arg272Ser) c.24C>A c.583C>A (p.Arg195Ser) c.649C>A (p.Arg217Ser) c.658C>A (p.Arg220Ser) | dbSNP gnomAD v4 |
| 1 | g.21570326C= | CA1141580642 | ALPL | c.814C= (p.Arg272=) c.24C= c.583C= (p.Arg195=) c.649C= (p.Arg217=) c.658C= (p.Arg220=) | |
| 1 | g.21570326C>G | CA338879917 | ALPL | c.814C>G (p.Arg272Gly) c.24C>G c.583C>G (p.Arg195Gly) c.649C>G (p.Arg217Gly) c.658C>G (p.Arg220Gly) | |
| 1 | g.21570326C>T | CA256936 | ALPL | c.814C>T (p.Arg272Cys) c.24C>T c.583C>T (p.Arg195Cys) c.649C>T (p.Arg217Cys) c.658C>T (p.Arg220Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21570327G>A | CA666626 | ALPL | c.815G>A (p.Arg272His) c.25G>A c.584G>A (p.Arg195His) c.650G>A (p.Arg217His) c.659G>A (p.Arg220His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.21570327G>C | CA338879918 | ALPL | c.815G>C (p.Arg272Pro) c.25G>C c.584G>C (p.Arg195Pro) c.650G>C (p.Arg217Pro) c.659G>C (p.Arg220Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21570327G= | CA1158016961 | ALPL | c.815G= (p.Arg272=) c.25G= c.584G= (p.Arg195=) c.650G= (p.Arg217=) c.659G= (p.Arg220=) | |
| 1 | g.21570327G>T | CA666625 | ALPL | c.815G>T (p.Arg272Leu) c.25G>T c.584G>T (p.Arg195Leu) c.650G>T (p.Arg217Leu) c.659G>T (p.Arg220Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21570328C>A | CA416530902 | ALPL | c.816C>A (p.Arg272=) c.26C>A c.585C>A (p.Arg195=) c.651C>A (p.Arg217=) c.660C>A (p.Arg220=) | |
| 1 | g.21570328C>G | CA416530904 | ALPL | c.816C>G (p.Arg272=) c.26C>G c.585C>G (p.Arg195=) c.651C>G (p.Arg217=) c.660C>G (p.Arg220=) | |
| 1 | g.21570328C>T | CA416530906 | ALPL | c.816C>T (p.Arg272=) c.26C>T c.585C>T (p.Arg195=) c.651C>T (p.Arg217=) c.660C>T (p.Arg220=) | |
| 1 | g.21570329A= | CA1158016962 | ALPL | c.817A= (p.Thr273=) c.27A= c.586A= (p.Thr196=) c.652A= (p.Thr218=) c.661A= (p.Thr221=) | |
| 1 | g.21570329A>C | CA338879919 | ALPL | c.817A>C (p.Thr273Pro) c.27A>C c.586A>C (p.Thr196Pro) c.652A>C (p.Thr218Pro) c.661A>C (p.Thr221Pro) | dbSNP gnomAD v4 |
| 1 | g.21570329A>G | CA338879921 | ALPL | c.817A>G (p.Thr273Ala) c.27A>G c.586A>G (p.Thr196Ala) c.652A>G (p.Thr218Ala) c.661A>G (p.Thr221Ala) | |
| 1 | g.21570329A>T | CA338879920 | ALPL | c.817A>T (p.Thr273Ser) c.27A>T c.586A>T (p.Thr196Ser) c.652A>T (p.Thr218Ser) c.661A>T (p.Thr221Ser) | |
| 1 | g.21570330C>A | CA338879922 | ALPL | c.818C>A (p.Thr273Lys) c.28C>A c.587C>A (p.Thr196Lys) c.653C>A (p.Thr218Lys) c.662C>A (p.Thr221Lys) | |
| 1 | g.21570330C= | CA1142237806 | ALPL | c.818C= (p.Thr273=) c.28C= c.587C= (p.Thr196=) c.653C= (p.Thr218=) c.662C= (p.Thr221=) | |
| 1 | g.21570330C>G | CA338879923 | ALPL | c.818C>G (p.Thr273Arg) c.28C>G c.587C>G (p.Thr196Arg) c.653C>G (p.Thr218Arg) c.662C>G (p.Thr221Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21570330C>T | CA666627 | ALPL | c.818C>T (p.Thr273Met) c.28C>T c.587C>T (p.Thr196Met) c.653C>T (p.Thr218Met) c.662C>T (p.Thr221Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21570331G>A | CA666628 | ALPL | c.819G>A (p.Thr273=) c.29G>A c.588G>A (p.Thr196=) c.654G>A (p.Thr218=) c.663G>A (p.Thr221=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21570331G>C | CA416530912 | ALPL | c.819G>C (p.Thr273=) c.29G>C c.588G>C (p.Thr196=) c.654G>C (p.Thr218=) c.663G>C (p.Thr221=) | |
| 1 | g.21570331G= | CA1143848998 | ALPL | c.819G= (p.Thr273=) c.29G= c.588G= (p.Thr196=) c.654G= (p.Thr218=) c.663G= (p.Thr221=) | |
| 1 | g.21570331G>T | CA416530914 | ALPL | c.819G>T (p.Thr273=) c.29G>T c.588G>T (p.Thr196=) c.654G>T (p.Thr218=) c.663G>T (p.Thr221=) | dbSNP |
| 1 | g.21570332G>A | CA338879924 | ALPL | c.820G>A (p.Glu274Lys) c.30G>A c.589G>A (p.Glu197Lys) c.655G>A (p.Glu219Lys) c.664G>A (p.Glu222Lys) | gnomAD v4 COSMIC |
| 1 | g.21570332G>C | CA338879925 | ALPL | c.820G>C (p.Glu274Gln) c.30G>C c.589G>C (p.Glu197Gln) c.655G>C (p.Glu219Gln) c.664G>C (p.Glu222Gln) | |
| 1 | g.21570332G>T | CA338879926 | ALPL | c.820G>T (p.Glu274Ter) c.30G>T c.589G>T (p.Glu197Ter) c.655G>T (p.Glu219Ter) c.664G>T (p.Glu222Ter) | |
| 1 | g.21570332_21570333delinsGA | CA1158016963 | ALPL | c.820_821delinsGA (p.Glu274=) c.30_31delinsGA c.589_590delinsGA (p.Glu197=) c.655_656delinsGA (p.Glu219=) c.664_665delinsGA (p.Glu222=) | |
| 1 | g.21570333A>C | CA338879927 | ALPL | c.821A>C (p.Glu274Ala) c.31A>C c.590A>C (p.Glu197Ala) c.656A>C (p.Glu219Ala) c.665A>C (p.Glu222Ala) | |
| 1 | g.21570333A>G | CA338879928 | ALPL | c.821A>G (p.Glu274Gly) c.31A>G c.590A>G (p.Glu197Gly) c.656A>G (p.Glu219Gly) c.665A>G (p.Glu222Gly) | |
| 1 | g.21570333A>T | CA338879929 | ALPL | c.821A>T (p.Glu274Val) c.31A>T c.590A>T (p.Glu197Val) c.656A>T (p.Glu219Val) c.665A>T (p.Glu222Val) | |
| 1 | g.21570334del | CA666629 | ALPL | c.822del (p.Glu274AspfsTer3) c.32del c.591del (p.Glu197AspfsTer3) c.657del (p.Glu219AspfsTer3) c.666del (p.Glu222AspfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21570334A>C | CA338879930 | ALPL | c.822A>C (p.Glu274Asp) c.32A>C c.591A>C (p.Glu197Asp) c.657A>C (p.Glu219Asp) c.666A>C (p.Glu222Asp) | |
| 1 | g.21570334A>G | CA416530922 | ALPL | c.822A>G (p.Glu274=) c.32A>G c.591A>G (p.Glu197=) c.657A>G (p.Glu219=) c.666A>G (p.Glu222=) | |
| 1 | g.21570334A>T | CA338879931 | ALPL | c.822A>T (p.Glu274Asp) c.32A>T c.591A>T (p.Glu197Asp) c.657A>T (p.Glu219Asp) c.666A>T (p.Glu222Asp) | ClinVar |
| 1 | g.21570334_21570335del | CA2697552245 | ALPL | c.822_823del (p.Glu274AspfsTer5) c.32_33del c.591_592del (p.Glu197AspfsTer5) c.657_658del (p.Glu219AspfsTer5) c.666_667del (p.Glu222AspfsTer5) | ClinVar |
| 1 | g.21570335C>A | CA338879933 | ALPL | c.823C>A (p.Leu275Ile) c.33C>A c.592C>A (p.Leu198Ile) c.658C>A (p.Leu220Ile) c.667C>A (p.Leu223Ile) | |
| 1 | g.21570335C= | CA1149135273 | ALPL | c.823C= (p.Leu275=) c.33C= c.592C= (p.Leu198=) c.658C= (p.Leu220=) c.667C= (p.Leu223=) | |
| 1 | g.21570335C>G | CA666630 | ALPL | c.823C>G (p.Leu275Val) c.33C>G c.592C>G (p.Leu198Val) c.658C>G (p.Leu220Val) c.667C>G (p.Leu223Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21570335C>T | CA338879932 | ALPL | c.823C>T (p.Leu275Phe) c.33C>T c.592C>T (p.Leu198Phe) c.658C>T (p.Leu220Phe) c.667C>T (p.Leu223Phe) | ClinVar gnomAD v4 |
| 1 | g.21570336T>A | CA338879934 | ALPL | c.824T>A (p.Leu275His) c.34T>A c.593T>A (p.Leu198His) c.659T>A (p.Leu220His) c.668T>A (p.Leu223His) | |
| 1 | g.21570336T>C | CA338879935 | ALPL | c.824T>C (p.Leu275Pro) c.34T>C c.593T>C (p.Leu198Pro) c.659T>C (p.Leu220Pro) c.668T>C (p.Leu223Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21570336T>G | CA338879936 | ALPL | c.824T>G (p.Leu275Arg) c.34T>G c.593T>G (p.Leu198Arg) c.659T>G (p.Leu220Arg) c.668T>G (p.Leu223Arg) | |
| 1 | g.21570336T= | CA1158016964 | ALPL | c.824T= (p.Leu275=) c.34T= c.593T= (p.Leu198=) c.659T= (p.Leu220=) c.668T= (p.Leu223=) | |
| 1 | g.21570337C>A | CA416530928 | ALPL | c.825C>A (p.Leu275=) c.35C>A c.594C>A (p.Leu198=) c.660C>A (p.Leu220=) c.669C>A (p.Leu223=) | |
| 1 | g.21570337C>G | CA416530930 | ALPL | c.825C>G (p.Leu275=) c.35C>G c.594C>G (p.Leu198=) c.660C>G (p.Leu220=) c.669C>G (p.Leu223=) | |
| 1 | g.21570337C>T | CA416530932 | ALPL | c.825C>T (p.Leu275=) c.35C>T c.594C>T (p.Leu198=) c.660C>T (p.Leu220=) c.669C>T (p.Leu223=) | |
| 1 | g.21570338C>A | CA338879937 | ALPL | c.826C>A (p.Leu276Met) c.36C>A c.595C>A (p.Leu199Met) c.661C>A (p.Leu221Met) c.670C>A (p.Leu224Met) | |
| 1 | g.21570338C= | CA1158016965 | ALPL | c.826C= (p.Leu276=) c.36C= c.595C= (p.Leu199=) c.661C= (p.Leu221=) c.670C= (p.Leu224=) | |
| 1 | g.21570338C>G | CA338879938 | ALPL | c.826C>G (p.Leu276Val) c.36C>G c.595C>G (p.Leu199Val) c.661C>G (p.Leu221Val) c.670C>G (p.Leu224Val) | gnomAD v4 |