Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21570321G>A | CA274277 | ALPL | c.809G>A (p.Trp270Ter) c.19G>A c.578G>A (p.Trp193Ter) c.644G>A (p.Trp215Ter) c.653G>A (p.Trp218Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21570321G>C | CA338879903 | ALPL | c.809G>C (p.Trp270Ser) c.19G>C c.578G>C (p.Trp193Ser) c.644G>C (p.Trp215Ser) c.653G>C (p.Trp218Ser) | |
1 | g.21570321G= | CA1158016959 | ALPL | c.809G= (p.Trp270=) c.19G= c.578G= (p.Trp193=) c.644G= (p.Trp215=) c.653G= (p.Trp218=) | |
1 | g.21570321G>T | CA338879904 | ALPL | c.809G>T (p.Trp270Leu) c.19G>T c.578G>T (p.Trp193Leu) c.644G>T (p.Trp215Leu) c.653G>T (p.Trp218Leu) | |
1 | g.21570322G>A | CA338879905 | ALPL | c.810G>A (p.Trp270Ter) c.20G>A c.579G>A (p.Trp193Ter) c.645G>A (p.Trp215Ter) c.654G>A (p.Trp218Ter) | ClinVar dbSNP |
1 | g.21570322G>C | CA338879906 | ALPL | c.810G>C (p.Trp270Cys) c.20G>C c.579G>C (p.Trp193Cys) c.645G>C (p.Trp215Cys) c.654G>C (p.Trp218Cys) | |
1 | g.21570322G= | CA1158016960 | ALPL | c.810G= (p.Trp270=) c.20G= c.579G= (p.Trp193=) c.645G= (p.Trp215=) c.654G= (p.Trp218=) | |
1 | g.21570322G>T | CA338879907 | ALPL | c.810G>T (p.Trp270Cys) c.20G>T c.579G>T (p.Trp193Cys) c.645G>T (p.Trp215Cys) c.654G>T (p.Trp218Cys) | |
1 | g.21570323A>C | CA338879910 | ALPL | c.811A>C (p.Asn271His) c.21A>C c.580A>C (p.Asn194His) c.646A>C (p.Asn216His) c.655A>C (p.Asn219His) | |
1 | g.21570323A>G | CA338879909 | ALPL | c.811A>G (p.Asn271Asp) c.21A>G c.580A>G (p.Asn194Asp) c.646A>G (p.Asn216Asp) c.655A>G (p.Asn219Asp) | |
1 | g.21570323A>T | CA338879908 | ALPL | c.811A>T (p.Asn271Tyr) c.21A>T c.580A>T (p.Asn194Tyr) c.646A>T (p.Asn216Tyr) c.655A>T (p.Asn219Tyr) | |
1 | g.21570324A>C | CA338879911 | ALPL | c.812A>C (p.Asn271Thr) c.22A>C c.581A>C (p.Asn194Thr) c.647A>C (p.Asn216Thr) c.656A>C (p.Asn219Thr) | |
1 | g.21570324A>G | CA338879913 | ALPL | c.812A>G (p.Asn271Ser) c.22A>G c.581A>G (p.Asn194Ser) c.647A>G (p.Asn216Ser) c.656A>G (p.Asn219Ser) | gnomAD v4 |
1 | g.21570324A>T | CA338879912 | ALPL | c.812A>T (p.Asn271Ile) c.22A>T c.581A>T (p.Asn194Ile) c.647A>T (p.Asn216Ile) c.656A>T (p.Asn219Ile) | |
1 | g.21570325C>A | CA338879914 | ALPL | c.813C>A (p.Asn271Lys) c.23C>A c.582C>A (p.Asn194Lys) c.648C>A (p.Asn216Lys) c.657C>A (p.Asn219Lys) | |
1 | g.21570325C>G | CA338879915 | ALPL | c.813C>G (p.Asn271Lys) c.23C>G c.582C>G (p.Asn194Lys) c.648C>G (p.Asn216Lys) c.657C>G (p.Asn219Lys) | |
1 | g.21570325C>T | CA416530896 | ALPL | c.813C>T (p.Asn271=) c.23C>T c.582C>T (p.Asn194=) c.648C>T (p.Asn216=) c.657C>T (p.Asn219=) | ClinVar gnomAD v4 |
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) |