| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | ClinVar 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=) | |
| 1 | g.21564099C= | CA1148411941 | ALPL | c.531C= (p.Ala177=) n.591C= c.300C= (p.Ala100=) c.366C= (p.Ala122=) c.375C= (p.Ala125=) | |
| 1 | g.21564099C>G | CA666522 | ALPL | c.531C>G (p.Ala177=) n.591C>G c.300C>G (p.Ala100=) c.366C>G (p.Ala122=) c.375C>G (p.Ala125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21564099C>T | CA416527789 | ALPL | c.531C>T (p.Ala177=) n.591C>T c.300C>T (p.Ala100=) c.366C>T (p.Ala122=) c.375C>T (p.Ala125=) | |
| 1 | g.21564100T>A | CA338877916 | ALPL | c.532T>A (p.Tyr178Asn) n.592T>A c.301T>A (p.Tyr101Asn) c.367T>A (p.Tyr123Asn) c.376T>A (p.Tyr126Asn) | |
| 1 | g.21564100T>C | CA338877913 | ALPL | c.532T>C (p.Tyr178His) n.592T>C c.301T>C (p.Tyr101His) c.367T>C (p.Tyr123His) c.376T>C (p.Tyr126His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21564100T>G | CA338877911 | ALPL | c.532T>G (p.Tyr178Asp) n.592T>G c.301T>G (p.Tyr101Asp) c.367T>G (p.Tyr123Asp) c.376T>G (p.Tyr126Asp) | |
| 1 | g.21564100T= | CA1158014459 | ALPL | c.532T= (p.Tyr178=) n.592T= c.301T= (p.Tyr101=) c.367T= (p.Tyr123=) c.376T= (p.Tyr126=) | |
| 1 | g.21564101A>C | CA338877918 | ALPL | c.533A>C (p.Tyr178Ser) n.593A>C c.302A>C (p.Tyr101Ser) c.368A>C (p.Tyr123Ser) c.377A>C (p.Tyr126Ser) | |
| 1 | g.21564101A>G | CA338877920 | ALPL | c.533A>G (p.Tyr178Cys) n.593A>G c.302A>G (p.Tyr101Cys) c.368A>G (p.Tyr123Cys) c.377A>G (p.Tyr126Cys) | |
| 1 | g.21564101A>T | CA338877921 | ALPL | c.533A>T (p.Tyr178Phe) n.593A>T c.302A>T (p.Tyr101Phe) c.368A>T (p.Tyr123Phe) c.377A>T (p.Tyr126Phe) | |
| 1 | g.21564102C>A | CA338877924 | ALPL | c.534C>A (p.Tyr178Ter) n.594C>A c.303C>A (p.Tyr101Ter) c.369C>A (p.Tyr123Ter) c.378C>A (p.Tyr126Ter) | ClinVar dbSNP |
| 1 | g.21564102C= | CA1143469607 | ALPL | c.534C= (p.Tyr178=) n.594C= c.303C= (p.Tyr101=) c.369C= (p.Tyr123=) c.378C= (p.Tyr126=) | |
| 1 | g.21564102C>G | CA666524 | ALPL | c.534C>G (p.Tyr178Ter) n.594C>G c.303C>G (p.Tyr101Ter) c.369C>G (p.Tyr123Ter) c.378C>G (p.Tyr126Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564102C>T | CA666523 | ALPL | c.534C>T (p.Tyr178=) n.594C>T c.303C>T (p.Tyr101=) c.369C>T (p.Tyr123=) c.378C>T (p.Tyr126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564103G>A | CA256919 | ALPL | c.535G>A (p.Ala179Thr) n.595G>A c.304G>A (p.Ala102Thr) c.370G>A (p.Ala124Thr) c.379G>A (p.Ala127Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.21564103G>C | CA338877927 | ALPL | c.535G>C (p.Ala179Pro) n.595G>C c.304G>C (p.Ala102Pro) c.370G>C (p.Ala124Pro) c.379G>C (p.Ala127Pro) | |
| 1 | g.21564103G= | CA1141580638 | ALPL | c.535G= (p.Ala179=) n.595G= c.304G= (p.Ala102=) c.370G= (p.Ala124=) c.379G= (p.Ala127=) | |
| 1 | g.21564103G>T | CA338877928 | ALPL | c.535G>T (p.Ala179Ser) n.595G>T c.304G>T (p.Ala102Ser) c.370G>T (p.Ala124Ser) c.379G>T (p.Ala127Ser) | dbSNP gnomAD v4 |
| 1 | g.21564104C>A | CA338877930 | ALPL | c.536C>A (p.Ala179Asp) n.596C>A c.305C>A (p.Ala102Asp) c.371C>A (p.Ala124Asp) c.380C>A (p.Ala127Asp) | |
| 1 | g.21564104C= | CA1148868669 | ALPL | c.536C= (p.Ala179=) n.596C= c.305C= (p.Ala102=) c.371C= (p.Ala124=) c.380C= (p.Ala127=) | |
| 1 | g.21564104C>G | CA338877932 | ALPL | c.536C>G (p.Ala179Gly) n.596C>G c.305C>G (p.Ala102Gly) c.371C>G (p.Ala124Gly) c.380C>G (p.Ala127Gly) | gnomAD v4 |
| 1 | g.21564104C>T | CA666525 | ALPL | c.536C>T (p.Ala179Val) n.596C>T c.305C>T (p.Ala102Val) c.371C>T (p.Ala124Val) c.380C>T (p.Ala127Val) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.21564105C>A | CA416527811 | ALPL | c.537C>A (p.Ala179=) n.597C>A c.306C>A (p.Ala102=) c.372C>A (p.Ala124=) c.381C>A (p.Ala127=) | |
| 1 | g.21564105C>G | CA416527809 | ALPL | c.537C>G (p.Ala179=) n.597C>G c.306C>G (p.Ala102=) c.372C>G (p.Ala124=) c.381C>G (p.Ala127=) | |
| 1 | g.21564105C>T | CA416527807 | ALPL | c.537C>T (p.Ala179=) n.597C>T c.306C>T (p.Ala102=) c.372C>T (p.Ala124=) c.381C>T (p.Ala127=) | |
| 1 | g.21564106C>A | CA338877939 | ALPL | c.538C>A (p.His180Asn) n.598C>A c.307C>A (p.His103Asn) c.373C>A (p.His125Asn) c.382C>A (p.His128Asn) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21564106C>G | CA338877937 | ALPL | c.538C>G (p.His180Asp) n.598C>G c.307C>G (p.His103Asp) c.373C>G (p.His125Asp) c.382C>G (p.His128Asp) | |
| 1 | g.21564106C>T | CA338877936 | ALPL | c.538C>T (p.His180Tyr) n.598C>T c.307C>T (p.His103Tyr) c.373C>T (p.His125Tyr) c.382C>T (p.His128Tyr) | |
| 1 | g.21564107A>C | CA338877941 | ALPL | c.539A>C (p.His180Pro) n.599A>C c.308A>C (p.His103Pro) c.374A>C (p.His125Pro) c.383A>C (p.His128Pro) | |
| 1 | g.21564107A>G | CA338877943 | ALPL | c.539A>G (p.His180Arg) n.599A>G c.308A>G (p.His103Arg) c.374A>G (p.His125Arg) c.383A>G (p.His128Arg) | ClinVar |
| 1 | g.21564107A>T | CA338877945 | ALPL | c.539A>T (p.His180Leu) n.599A>T c.308A>T (p.His103Leu) c.374A>T (p.His125Leu) c.383A>T (p.His128Leu) | |
| 1 | g.21564108C>A | CA338877947 | ALPL | c.540C>A (p.His180Gln) n.600C>A c.309C>A (p.His103Gln) c.375C>A (p.His125Gln) c.384C>A (p.His128Gln) | |
| 1 | g.21564108C= | CA1158014460 | ALPL | c.540C= (p.His180=) n.600C= c.309C= (p.His103=) c.375C= (p.His125=) c.384C= (p.His128=) | |
| 1 | g.21564108C>G | CA338877949 | ALPL | c.540C>G (p.His180Gln) n.600C>G c.309C>G (p.His103Gln) c.375C>G (p.His125Gln) c.384C>G (p.His128Gln) | |
| 1 | g.21564108C>T | CA666526 | ALPL | c.540C>T (p.His180=) n.600C>T c.309C>T (p.His103=) c.375C>T (p.His125=) c.384C>T (p.His128=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21564109T>A | CA338877952 | ALPL | c.541T>A (p.Ser181Thr) n.601T>A c.310T>A (p.Ser104Thr) c.376T>A (p.Ser126Thr) c.385T>A (p.Ser129Thr) | |
| 1 | g.21564109T>C | CA338877954 | ALPL | c.541T>C (p.Ser181Pro) n.601T>C c.310T>C (p.Ser104Pro) c.376T>C (p.Ser126Pro) c.385T>C (p.Ser129Pro) | gnomAD v4 |
| 1 | g.21564109T>G | CA338877956 | ALPL | c.541T>G (p.Ser181Ala) n.601T>G c.310T>G (p.Ser104Ala) c.376T>G (p.Ser126Ala) c.385T>G (p.Ser129Ala) | |
| 1 | g.21564110C>A | CA338877959 | ALPL | c.542C>A (p.Ser181Ter) n.602C>A c.311C>A (p.Ser104Ter) c.377C>A (p.Ser126Ter) c.386C>A (p.Ser129Ter) | |
| 1 | g.21564110C= | CA1143361749 | ALPL | c.542C= (p.Ser181=) n.602C= c.311C= (p.Ser104=) c.377C= (p.Ser126=) c.386C= (p.Ser129=) | |
| 1 | g.21564110C>G | CA338877960 | ALPL | c.542C>G (p.Ser181Trp) n.602C>G c.311C>G (p.Ser104Trp) c.377C>G (p.Ser126Trp) c.386C>G (p.Ser129Trp) | ClinVar dbSNP |