| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21564068_21564096del | CA2499214449 | ALPL | c.500_528del (p.Thr167SerfsTer7) n.560_588del c.269_297del (p.Thr90SerfsTer7) c.335_363del (p.Thr112SerfsTer7) c.344_372del (p.Thr115SerfsTer7) | dbSNP |
| 1 | g.21564085_21564086delinsAC | CA1158014453 | ALPL | c.517_518delinsAC (p.Thr173=) n.577_578delinsAC c.286_287delinsAC (p.Thr96=) c.352_353delinsAC (p.Thr118=) c.361_362delinsAC (p.Thr121=) | |
| 1 | g.21564086C>A | CA338877851 | ALPL | c.518C>A (p.Thr173Asn) n.578C>A c.287C>A (p.Thr96Asn) c.353C>A (p.Thr118Asn) c.362C>A (p.Thr121Asn) | |
| 1 | g.21564086C>G | CA338877849 | ALPL | c.518C>G (p.Thr173Ser) n.578C>G c.287C>G (p.Thr96Ser) c.353C>G (p.Thr118Ser) c.362C>G (p.Thr121Ser) | |
| 1 | g.21564086C>T | CA338877853 | ALPL | c.518C>T (p.Thr173Ile) n.578C>T c.287C>T (p.Thr96Ile) c.353C>T (p.Thr118Ile) c.362C>T (p.Thr121Ile) | ClinVar gnomAD v4 |
| 1 | g.21564090dup | CA2643930480 | ALPL | c.522dup (p.Ser175GlnfsTer9) n.582dup c.291dup (p.Ser98GlnfsTer9) c.357dup (p.Ser120GlnfsTer9) c.366dup (p.Ser123GlnfsTer9) | gnomAD v4 |
| 1 | g.21564090del | CA666519 | ALPL | c.522del (p.Ser175AlafsTer23) n.582del c.291del (p.Ser98AlafsTer23) c.357del (p.Ser120AlafsTer23) c.366del (p.Ser123AlafsTer23) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.21564087C>A | CA416527708 | ALPL | c.519C>A (p.Thr173=) n.579C>A c.288C>A (p.Thr96=) c.354C>A (p.Thr118=) c.363C>A (p.Thr121=) | |
| 1 | g.21564087C>G | CA416527714 | ALPL | c.519C>G (p.Thr173=) n.579C>G c.288C>G (p.Thr96=) c.354C>G (p.Thr118=) c.363C>G (p.Thr121=) | |
| 1 | g.21564087C>T | CA416527710 | ALPL | c.519C>T (p.Thr173=) n.579C>T c.288C>T (p.Thr96=) c.354C>T (p.Thr118=) c.363C>T (p.Thr121=) | |
| 1 | g.21564088C>A | CA338877855 | ALPL | c.520C>A (p.Pro174Thr) n.580C>A c.289C>A (p.Pro97Thr) c.355C>A (p.Pro119Thr) c.364C>A (p.Pro122Thr) | |
| 1 | g.21564088C>G | CA338877857 | ALPL | c.520C>G (p.Pro174Ala) n.580C>G c.289C>G (p.Pro97Ala) c.355C>G (p.Pro119Ala) c.364C>G (p.Pro122Ala) | |
| 1 | g.21564088C>T | CA338877859 | ALPL | c.520C>T (p.Pro174Ser) n.580C>T c.289C>T (p.Pro97Ser) c.355C>T (p.Pro119Ser) c.364C>T (p.Pro122Ser) | gnomAD v4 |
| 1 | g.21564089C>A | CA338877861 | ALPL | c.521C>A (p.Pro174His) n.581C>A c.290C>A (p.Pro97His) c.356C>A (p.Pro119His) c.365C>A (p.Pro122His) | |
| 1 | g.21564089C>G | CA338877863 | ALPL | c.521C>G (p.Pro174Arg) n.581C>G c.290C>G (p.Pro97Arg) c.356C>G (p.Pro119Arg) c.365C>G (p.Pro122Arg) | |
| 1 | g.21564089C>T | CA338877865 | ALPL | c.521C>T (p.Pro174Leu) n.581C>T c.290C>T (p.Pro97Leu) c.356C>T (p.Pro119Leu) c.365C>T (p.Pro122Leu) | |
| 1 | g.21564090C>A | CA416527731 | ALPL | c.522C>A (p.Pro174=) n.582C>A c.291C>A (p.Pro97=) c.357C>A (p.Pro119=) c.366C>A (p.Pro122=) | |
| 1 | g.21564090C>G | CA416527730 | ALPL | c.522C>G (p.Pro174=) n.582C>G c.291C>G (p.Pro97=) c.357C>G (p.Pro119=) c.366C>G (p.Pro122=) | |
| 1 | g.21564090C>T | CA416527733 | ALPL | c.522C>T (p.Pro174=) n.582C>T c.291C>T (p.Pro97=) c.357C>T (p.Pro119=) c.366C>T (p.Pro122=) | ClinVar |
| 1 | g.21564091A= | CA1158014455 | ALPL | c.523A= (p.Ser175=) n.583A= c.292A= (p.Ser98=) c.358A= (p.Ser120=) c.367A= (p.Ser123=) | |
| 1 | g.21564091A>C | CA338877867 | ALPL | c.523A>C (p.Ser175Arg) n.583A>C c.292A>C (p.Ser98Arg) c.358A>C (p.Ser120Arg) c.367A>C (p.Ser123Arg) | dbSNP gnomAD v4 |
| 1 | g.21564091A>G | CA338877869 | ALPL | c.523A>G (p.Ser175Gly) n.583A>G c.292A>G (p.Ser98Gly) c.358A>G (p.Ser120Gly) c.367A>G (p.Ser123Gly) | gnomAD v4 |
| 1 | g.21564091A>T | CA338877871 | ALPL | c.523A>T (p.Ser175Cys) n.583A>T c.292A>T (p.Ser98Cys) c.358A>T (p.Ser120Cys) c.367A>T (p.Ser123Cys) | |
| 1 | g.21564092G>A | CA338877874 | ALPL | c.524G>A (p.Ser175Asn) n.584G>A c.293G>A (p.Ser98Asn) c.359G>A (p.Ser120Asn) c.368G>A (p.Ser123Asn) | |
| 1 | g.21564092G>C | CA338877876 | ALPL | c.524G>C (p.Ser175Thr) n.584G>C c.293G>C (p.Ser98Thr) c.359G>C (p.Ser120Thr) c.368G>C (p.Ser123Thr) | |
| 1 | g.21564092G>T | CA338877877 | ALPL | c.524G>T (p.Ser175Ile) n.584G>T c.293G>T (p.Ser98Ile) c.359G>T (p.Ser120Ile) c.368G>T (p.Ser123Ile) | |
| 1 | g.21564093C>A | CA338877880 | ALPL | c.525C>A (p.Ser175Arg) n.585C>A c.294C>A (p.Ser98Arg) c.360C>A (p.Ser120Arg) c.369C>A (p.Ser123Arg) | |
| 1 | g.21564093C= | CA1158014456 | ALPL | c.525C= (p.Ser175=) n.585C= c.294C= (p.Ser98=) c.360C= (p.Ser120=) c.369C= (p.Ser123=) | |
| 1 | g.21564093C>G | CA338877883 | ALPL | c.525C>G (p.Ser175Arg) n.585C>G c.294C>G (p.Ser98Arg) c.360C>G (p.Ser120Arg) c.369C>G (p.Ser123Arg) | |
| 1 | g.21564093C>T | CA19060205 | ALPL | c.525C>T (p.Ser175=) n.585C>T c.294C>T (p.Ser98=) c.360C>T (p.Ser120=) c.369C>T (p.Ser123=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21564094G>A | CA256935 | ALPL | c.526G>A (p.Ala176Thr) n.586G>A c.295G>A (p.Ala99Thr) c.361G>A (p.Ala121Thr) c.370G>A (p.Ala124Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564094G>C | CA338877888 | ALPL | c.526G>C (p.Ala176Pro) n.586G>C c.295G>C (p.Ala99Pro) c.361G>C (p.Ala121Pro) c.370G>C (p.Ala124Pro) | dbSNP |
| 1 | g.21564094G= | CA1141580637 | ALPL | c.526G= (p.Ala176=) n.586G= c.295G= (p.Ala99=) c.361G= (p.Ala121=) c.370G= (p.Ala124=) | |
| 1 | g.21564094G>T | CA338877886 | ALPL | c.526G>T (p.Ala176Ser) n.586G>T c.295G>T (p.Ala99Ser) c.361G>T (p.Ala121Ser) c.370G>T (p.Ala124Ser) | |
| 1 | g.21564095C>A | CA338877891 | ALPL | c.527C>A (p.Ala176Asp) n.587C>A c.296C>A (p.Ala99Asp) c.362C>A (p.Ala121Asp) c.371C>A (p.Ala124Asp) | |
| 1 | g.21564095C>G | CA338877893 | ALPL | c.527C>G (p.Ala176Gly) n.587C>G c.296C>G (p.Ala99Gly) c.362C>G (p.Ala121Gly) c.371C>G (p.Ala124Gly) | |
| 1 | g.21564095C>T | CA338877895 | ALPL | c.527C>T (p.Ala176Val) n.587C>T c.296C>T (p.Ala99Val) c.362C>T (p.Ala121Val) c.371C>T (p.Ala124Val) | |
| 1 | g.21564096C>A | CA416527766 | ALPL | c.528C>A (p.Ala176=) n.588C>A c.297C>A (p.Ala99=) c.363C>A (p.Ala121=) c.372C>A (p.Ala124=) | |
| 1 | g.21564096C= | CA1158014457 | ALPL | c.528C= (p.Ala176=) n.588C= c.297C= (p.Ala99=) c.363C= (p.Ala121=) c.372C= (p.Ala124=) | |
| 1 | g.21564096C>G | CA416527769 | ALPL | c.528C>G (p.Ala176=) n.588C>G c.297C>G (p.Ala99=) c.363C>G (p.Ala121=) c.372C>G (p.Ala124=) | |
| 1 | g.21564096C>T | CA666520 | ALPL | c.528C>T (p.Ala176=) n.588C>T c.297C>T (p.Ala99=) c.363C>T (p.Ala121=) c.372C>T (p.Ala124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564097G>A | CA666521 | ALPL | c.529G>A (p.Ala177Thr) n.589G>A c.298G>A (p.Ala100Thr) c.364G>A (p.Ala122Thr) c.373G>A (p.Ala125Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564097G>C | CA338877900 | ALPL | c.529G>C (p.Ala177Pro) n.589G>C c.298G>C (p.Ala100Pro) c.364G>C (p.Ala122Pro) c.373G>C (p.Ala125Pro) | |
| 1 | g.21564097G= | CA1143366459 | ALPL | c.529G= (p.Ala177=) n.589G= c.298G= (p.Ala100=) c.364G= (p.Ala122=) c.373G= (p.Ala125=) | |
| 1 | g.21564097G>T | CA338877902 | ALPL | c.529G>T (p.Ala177Ser) n.589G>T c.298G>T (p.Ala100Ser) c.364G>T (p.Ala122Ser) c.373G>T (p.Ala125Ser) | gnomAD v4 COSMIC |
| 1 | g.21564098C>A | CA338877905 | ALPL | c.530C>A (p.Ala177Asp) n.590C>A c.299C>A (p.Ala100Asp) c.365C>A (p.Ala122Asp) c.374C>A (p.Ala125Asp) | |
| 1 | g.21564098C= | CA1158014458 | ALPL | c.530C= (p.Ala177=) n.590C= c.299C= (p.Ala100=) c.365C= (p.Ala122=) c.374C= (p.Ala125=) | |
| 1 | g.21564098C>G | CA338877906 | ALPL | c.530C>G (p.Ala177Gly) n.590C>G c.299C>G (p.Ala100Gly) c.365C>G (p.Ala122Gly) c.374C>G (p.Ala125Gly) | |
| 1 | g.21564098C>T | CA338877907 | ALPL | c.530C>T (p.Ala177Val) n.590C>T c.299C>T (p.Ala100Val) c.365C>T (p.Ala122Val) c.374C>T (p.Ala125Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21564099C>A | CA416527787 | ALPL | c.531C>A (p.Ala177=) n.591C>A c.300C>A (p.Ala100=) c.366C>A (p.Ala122=) c.375C>A (p.Ala125=) |