Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21564068_21564096delCA2499214449ALPLc.500_528del (p.Thr167SerfsTer7)
n.560_588del
c.269_297del (p.Thr90SerfsTer7)
c.335_363del (p.Thr112SerfsTer7)
c.344_372del (p.Thr115SerfsTer7)
 dbSNP
1g.21564094G>ACA256935ALPLc.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
1g.21564094G>CCA338877888ALPLc.526G>C (p.Ala176Pro)
n.586G>C
c.295G>C (p.Ala99Pro)
c.361G>C (p.Ala121Pro)
c.370G>C (p.Ala124Pro)
 dbSNP
1g.21564094G=CA1141580637ALPLc.526G= (p.Ala176=)
n.586G=
c.295G= (p.Ala99=)
c.361G= (p.Ala121=)
c.370G= (p.Ala124=)
1g.21564094G>TCA338877886ALPLc.526G>T (p.Ala176Ser)
n.586G>T
c.295G>T (p.Ala99Ser)
c.361G>T (p.Ala121Ser)
c.370G>T (p.Ala124Ser)
1g.21564095C>ACA338877891ALPLc.527C>A (p.Ala176Asp)
n.587C>A
c.296C>A (p.Ala99Asp)
c.362C>A (p.Ala121Asp)
c.371C>A (p.Ala124Asp)
1g.21564095C>GCA338877893ALPLc.527C>G (p.Ala176Gly)
n.587C>G
c.296C>G (p.Ala99Gly)
c.362C>G (p.Ala121Gly)
c.371C>G (p.Ala124Gly)
1g.21564095C>TCA338877895ALPLc.527C>T (p.Ala176Val)
n.587C>T
c.296C>T (p.Ala99Val)
c.362C>T (p.Ala121Val)
c.371C>T (p.Ala124Val)
 ClinVar
1g.21564096C>ACA416527766ALPLc.528C>A (p.Ala176=)
n.588C>A
c.297C>A (p.Ala99=)
c.363C>A (p.Ala121=)
c.372C>A (p.Ala124=)
1g.21564096C=CA1158014457ALPLc.528C= (p.Ala176=)
n.588C=
c.297C= (p.Ala99=)
c.363C= (p.Ala121=)
c.372C= (p.Ala124=)
1g.21564096C>GCA416527769ALPLc.528C>G (p.Ala176=)
n.588C>G
c.297C>G (p.Ala99=)
c.363C>G (p.Ala121=)
c.372C>G (p.Ala124=)
1g.21564096C>TCA666520ALPLc.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
1g.21564097G>ACA666521ALPLc.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
1g.21564097G>CCA338877900ALPLc.529G>C (p.Ala177Pro)
n.589G>C
c.298G>C (p.Ala100Pro)
c.364G>C (p.Ala122Pro)
c.373G>C (p.Ala125Pro)
1g.21564097G=CA1143366459ALPLc.529G= (p.Ala177=)
n.589G=
c.298G= (p.Ala100=)
c.364G= (p.Ala122=)
c.373G= (p.Ala125=)
1g.21564097G>TCA338877902ALPLc.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
1g.21564098C>ACA338877905ALPLc.530C>A (p.Ala177Asp)
n.590C>A
c.299C>A (p.Ala100Asp)
c.365C>A (p.Ala122Asp)
c.374C>A (p.Ala125Asp)
1g.21564098C=CA1158014458ALPLc.530C= (p.Ala177=)
n.590C=
c.299C= (p.Ala100=)
c.365C= (p.Ala122=)
c.374C= (p.Ala125=)
1g.21564098C>GCA338877906ALPLc.530C>G (p.Ala177Gly)
n.590C>G
c.299C>G (p.Ala100Gly)
c.365C>G (p.Ala122Gly)
c.374C>G (p.Ala125Gly)
1g.21564098C>TCA338877907ALPLc.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
1g.21564099C>ACA416527787ALPLc.531C>A (p.Ala177=)
n.591C>A
c.300C>A (p.Ala100=)
c.366C>A (p.Ala122=)
c.375C>A (p.Ala125=)
1g.21564099C=CA1148411941ALPLc.531C= (p.Ala177=)
n.591C=
c.300C= (p.Ala100=)
c.366C= (p.Ala122=)
c.375C= (p.Ala125=)
1g.21564099C>GCA666522ALPLc.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
1g.21564099C>TCA416527789ALPLc.531C>T (p.Ala177=)
n.591C>T
c.300C>T (p.Ala100=)
c.366C>T (p.Ala122=)
c.375C>T (p.Ala125=)
1g.21564100T>ACA338877916ALPLc.532T>A (p.Tyr178Asn)
n.592T>A
c.301T>A (p.Tyr101Asn)
c.367T>A (p.Tyr123Asn)
c.376T>A (p.Tyr126Asn)
1g.21564100T>CCA338877913ALPLc.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
1g.21564100T>GCA338877911ALPLc.532T>G (p.Tyr178Asp)
n.592T>G
c.301T>G (p.Tyr101Asp)
c.367T>G (p.Tyr123Asp)
c.376T>G (p.Tyr126Asp)
1g.21564100T=CA1158014459ALPLc.532T= (p.Tyr178=)
n.592T=
c.301T= (p.Tyr101=)
c.367T= (p.Tyr123=)
c.376T= (p.Tyr126=)
1g.21564101A>CCA338877918ALPLc.533A>C (p.Tyr178Ser)
n.593A>C
c.302A>C (p.Tyr101Ser)
c.368A>C (p.Tyr123Ser)
c.377A>C (p.Tyr126Ser)
1g.21564101A>GCA338877920ALPLc.533A>G (p.Tyr178Cys)
n.593A>G
c.302A>G (p.Tyr101Cys)
c.368A>G (p.Tyr123Cys)
c.377A>G (p.Tyr126Cys)
1g.21564101A>TCA338877921ALPLc.533A>T (p.Tyr178Phe)
n.593A>T
c.302A>T (p.Tyr101Phe)
c.368A>T (p.Tyr123Phe)
c.377A>T (p.Tyr126Phe)
1g.21564102C>ACA338877924ALPLc.534C>A (p.Tyr178Ter)
n.594C>A
c.303C>A (p.Tyr101Ter)
c.369C>A (p.Tyr123Ter)
c.378C>A (p.Tyr126Ter)
 ClinVar dbSNP
1g.21564102C=CA1143469607ALPLc.534C= (p.Tyr178=)
n.594C=
c.303C= (p.Tyr101=)
c.369C= (p.Tyr123=)
c.378C= (p.Tyr126=)
1g.21564102C>GCA666524ALPLc.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
1g.21564102C>TCA666523ALPLc.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
1g.21564103G>ACA256919ALPLc.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
1g.21564103G>CCA338877927ALPLc.535G>C (p.Ala179Pro)
n.595G>C
c.304G>C (p.Ala102Pro)
c.370G>C (p.Ala124Pro)
c.379G>C (p.Ala127Pro)
1g.21564103G=CA1141580638ALPLc.535G= (p.Ala179=)
n.595G=
c.304G= (p.Ala102=)
c.370G= (p.Ala124=)
c.379G= (p.Ala127=)
1g.21564103G>TCA338877928ALPLc.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
1g.21564104C>ACA338877930ALPLc.536C>A (p.Ala179Asp)
n.596C>A
c.305C>A (p.Ala102Asp)
c.371C>A (p.Ala124Asp)
c.380C>A (p.Ala127Asp)
1g.21564104C=CA1148868669ALPLc.536C= (p.Ala179=)
n.596C=
c.305C= (p.Ala102=)
c.371C= (p.Ala124=)
c.380C= (p.Ala127=)
1g.21564104C>GCA338877932ALPLc.536C>G (p.Ala179Gly)
n.596C>G
c.305C>G (p.Ala102Gly)
c.371C>G (p.Ala124Gly)
c.380C>G (p.Ala127Gly)
 gnomAD v4
1g.21564104C>TCA666525ALPLc.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
1g.21564105C>ACA416527811ALPLc.537C>A (p.Ala179=)
n.597C>A
c.306C>A (p.Ala102=)
c.372C>A (p.Ala124=)
c.381C>A (p.Ala127=)
1g.21564105C>GCA416527809ALPLc.537C>G (p.Ala179=)
n.597C>G
c.306C>G (p.Ala102=)
c.372C>G (p.Ala124=)
c.381C>G (p.Ala127=)
1g.21564105C>TCA416527807ALPLc.537C>T (p.Ala179=)
n.597C>T
c.306C>T (p.Ala102=)
c.372C>T (p.Ala124=)
c.381C>T (p.Ala127=)
1g.21564106C>ACA338877939ALPLc.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
1g.21564106C>GCA338877937ALPLc.538C>G (p.His180Asp)
n.598C>G
c.307C>G (p.His103Asp)
c.373C>G (p.His125Asp)
c.382C>G (p.His128Asp)
1g.21564106C>TCA338877936ALPLc.538C>T (p.His180Tyr)
n.598C>T
c.307C>T (p.His103Tyr)
c.373C>T (p.His125Tyr)
c.382C>T (p.His128Tyr)
1g.21564107A>CCA338877941ALPLc.539A>C (p.His180Pro)
n.599A>C
c.308A>C (p.His103Pro)
c.374A>C (p.His125Pro)
c.383A>C (p.His128Pro)

Number of alleles fetched