Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.84840233G>ACA492277324ALPK3c.954G>A (p.Lys318=)
c.1560G>A (p.Lys520=)
15g.84840233G>CCA393373865ALPK3c.954G>C (p.Lys318Asn)
c.1560G>C (p.Lys520Asn)
15g.84840233G>TCA393373866ALPK3c.954G>T (p.Lys318Asn)
c.1560G>T (p.Lys520Asn)
gnomAD v4
15g.84840234A=CA2192368255ALPK3c.955A= (p.Lys319=)
c.1561A= (p.Lys521=)
15g.84840234A>CCA393373869ALPK3c.955A>C (p.Lys319Gln)
c.1561A>C (p.Lys521Gln)
15g.84840234A>GCA393373870ALPK3c.955A>G (p.Lys319Glu)
c.1561A>G (p.Lys521Glu)
dbSNP gnomAD v4
15g.84840234A>TCA393373871ALPK3c.955A>T (p.Lys319Ter)
c.1561A>T (p.Lys521Ter)
gnomAD v4
15g.84840235A>CCA393373874ALPK3c.956A>C (p.Lys319Thr)
c.1562A>C (p.Lys521Thr)
15g.84840235A>GCA393373877ALPK3c.956A>G (p.Lys319Arg)
c.1562A>G (p.Lys521Arg)
15g.84840235A>TCA393373875ALPK3c.956A>T (p.Lys319Ile)
c.1562A>T (p.Lys521Ile)
15g.84840236A=CA2192368256ALPK3c.957A= (p.Lys319=)
c.1563A= (p.Lys521=)
15g.84840236A>CCA393373879ALPK3c.957A>C (p.Lys319Asn)
c.1563A>C (p.Lys521Asn)
15g.84840236A>GCA7709099ALPK3c.957A>G (p.Lys319=)
c.1563A>G (p.Lys521=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840236A>TCA393373881ALPK3c.957A>T (p.Lys319Asn)
c.1563A>T (p.Lys521Asn)
15g.84840237G>ACA393373883ALPK3c.958G>A (p.Asp320Asn)
c.1564G>A (p.Asp522Asn)
15g.84840237G>CCA393373885ALPK3c.958G>C (p.Asp320His)
c.1564G>C (p.Asp522His)
15g.84840237G=CA2192368257ALPK3c.958G= (p.Asp320=)
c.1564G= (p.Asp522=)
15g.84840237G>TCA393373887ALPK3c.958G>T (p.Asp320Tyr)
c.1564G>T (p.Asp522Tyr)
ClinVar dbSNP gnomAD v4
15g.84840238A>CCA393373889ALPK3c.959A>C (p.Asp320Ala)
c.1565A>C (p.Asp522Ala)
15g.84840238A>GCA393373890ALPK3c.959A>G (p.Asp320Gly)
c.1565A>G (p.Asp522Gly)
ClinVar
15g.84840238A>TCA393373892ALPK3c.959A>T (p.Asp320Val)
c.1565A>T (p.Asp522Val)
15g.84840239T>ACA393373894ALPK3c.960T>A (p.Asp320Glu)
c.1566T>A (p.Asp522Glu)
15g.84840239T>CCA492277333ALPK3c.960T>C (p.Asp320=)
c.1566T>C (p.Asp522=)
15g.84840239T>GCA393373896ALPK3c.960T>G (p.Asp320Glu)
c.1566T>G (p.Asp522Glu)
15g.84840240G>ACA393373901ALPK3c.961G>A (p.Glu321Lys)
c.1567G>A (p.Glu523Lys)
15g.84840240G>CCA393373900ALPK3c.961G>C (p.Glu321Gln)
c.1567G>C (p.Glu523Gln)
15g.84840240G>TCA393373898ALPK3c.961G>T (p.Glu321Ter)
c.1567G>T (p.Glu523Ter)
15g.84840241A=CA2192368258ALPK3c.962A= (p.Glu321=)
c.1568A= (p.Glu523=)
15g.84840241A>CCA393373903ALPK3c.962A>C (p.Glu321Ala)
c.1568A>C (p.Glu523Ala)
15g.84840241A>GCA7709100ALPK3c.962A>G (p.Glu321Gly)
c.1568A>G (p.Glu523Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840241A>TCA393373904ALPK3c.962A>T (p.Glu321Val)
c.1568A>T (p.Glu523Val)
15g.84840242G>ACA492277337ALPK3c.963G>A (p.Glu321=)
c.1569G>A (p.Glu523=)
gnomAD v4
15g.84840242G>CCA393373907ALPK3c.963G>C (p.Glu321Asp)
c.1569G>C (p.Glu523Asp)
15g.84840242G>TCA393373909ALPK3c.963G>T (p.Glu321Asp)
c.1569G>T (p.Glu523Asp)
15g.84840243G>ACA393373911ALPK3c.964G>A (p.Glu322Lys)
c.1570G>A (p.Glu524Lys)
15g.84840243G>CCA393373913ALPK3c.964G>C (p.Glu322Gln)
c.1570G>C (p.Glu524Gln)
15g.84840243G>TCA393373914ALPK3c.964G>T (p.Glu322Ter)
c.1570G>T (p.Glu524Ter)
15g.84840244A>CCA393373917ALPK3c.965A>C (p.Glu322Ala)
c.1571A>C (p.Glu524Ala)
15g.84840244A>GCA393373918ALPK3c.965A>G (p.Glu322Gly)
c.1571A>G (p.Glu524Gly)
15g.84840244A>TCA393373920ALPK3c.965A>T (p.Glu322Val)
c.1571A>T (p.Glu524Val)
ClinVar
15g.84840245A>CCA393373921ALPK3c.966A>C (p.Glu322Asp)
c.1572A>C (p.Glu524Asp)
15g.84840245A>GCA492277342ALPK3c.966A>G (p.Glu322=)
c.1572A>G (p.Glu524=)
15g.84840245A>TCA393373924ALPK3c.966A>T (p.Glu322Asp)
c.1572A>T (p.Glu524Asp)
15g.84840246T>ACA393373927ALPK3c.967T>A (p.Ser323Thr)
c.1573T>A (p.Ser525Thr)
15g.84840246T>CCA273665766ALPK3c.967T>C (p.Ser323Pro)
c.1573T>C (p.Ser525Pro)
dbSNP
15g.84840246T>GCA393373925ALPK3c.967T>G (p.Ser323Ala)
c.1573T>G (p.Ser525Ala)
15g.84840246T=CA2192368259ALPK3c.967T= (p.Ser323=)
c.1573T= (p.Ser525=)
15g.84840247C>ACA393373929ALPK3c.968C>A (p.Ser323Tyr)
c.1574C>A (p.Ser525Tyr)
15g.84840247C>GCA393373931ALPK3c.968C>G (p.Ser323Cys)
c.1574C>G (p.Ser525Cys)
15g.84840247C>TCA393373933ALPK3c.968C>T (p.Ser323Phe)
c.1574C>T (p.Ser525Phe)
dbSNP gnomAD v3 gnomAD v4
15g.84840248C>ACA492277344ALPK3c.969C>A (p.Ser323=)
c.1575C>A (p.Ser525=)
15g.84840248C>GCA492277345ALPK3c.969C>G (p.Ser323=)
c.1575C>G (p.Ser525=)
15g.84840248C>TCA492277346ALPK3c.969C>T (p.Ser323=)
c.1575C>T (p.Ser525=)
gnomAD v4
15g.84840252_84840255dupCA2697549430ALPK3c.973_976dup (p.Gly326AlafsTer29)
c.1579_1582dup (p.Gly528AlafsTer29)
ClinVar
15g.84840249A=CA2192368260ALPK3c.970A= (p.Lys324=)
c.1576A= (p.Lys526=)
15g.84840249A>CCA393373935ALPK3c.970A>C (p.Lys324Gln)
c.1576A>C (p.Lys526Gln)
15g.84840249A>GCA393373936ALPK3c.970A>G (p.Lys324Glu)
c.1576A>G (p.Lys526Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.84840249A>TCA393373937ALPK3c.970A>T (p.Lys324Ter)
c.1576A>T (p.Lys526Ter)
15g.84840250A>CCA393373939ALPK3c.971A>C (p.Lys324Thr)
c.1577A>C (p.Lys526Thr)
15g.84840250A>GCA393373941ALPK3c.971A>G (p.Lys324Arg)
c.1577A>G (p.Lys526Arg)
15g.84840250A>TCA393373943ALPK3c.971A>T (p.Lys324Met)
c.1577A>T (p.Lys526Met)
15g.84840251G>ACA492277358ALPK3c.972G>A (p.Lys324=)
c.1578G>A (p.Lys526=)
dbSNP
15g.84840251G>CCA393373944ALPK3c.972G>C (p.Lys324Asn)
c.1578G>C (p.Lys526Asn)
15g.84840251G=CA2192368261ALPK3c.972G= (p.Lys324=)
c.1578G= (p.Lys526=)
15g.84840251G>TCA393373945ALPK3c.972G>T (p.Lys324Asn)
c.1578G>T (p.Lys526Asn)
gnomAD v4
15g.84840252C>ACA393373949ALPK3c.973C>A (p.Gln325Lys)
c.1579C>A (p.Gln527Lys)
15g.84840252C>GCA393373951ALPK3c.973C>G (p.Gln325Glu)
c.1579C>G (p.Gln527Glu)
15g.84840252C>TCA393373947ALPK3c.973C>T (p.Gln325Ter)
c.1579C>T (p.Gln527Ter)
gnomAD v4
15g.84840253A>CCA393373953ALPK3c.974A>C (p.Gln325Pro)
c.1580A>C (p.Gln527Pro)
15g.84840253A>GCA393373954ALPK3c.974A>G (p.Gln325Arg)
c.1580A>G (p.Gln527Arg)
15g.84840253A>TCA393373956ALPK3c.974A>T (p.Gln325Leu)
c.1580A>T (p.Gln527Leu)
15g.84840254A>CCA393373958ALPK3c.975A>C (p.Gln325His)
c.1581A>C (p.Gln527His)
15g.84840254A>GCA492277365ALPK3c.975A>G (p.Gln325=)
c.1581A>G (p.Gln527=)
15g.84840254A>TCA393373960ALPK3c.975A>T (p.Gln325His)
c.1581A>T (p.Gln527His)
15g.84840255G>ACA393373961ALPK3c.976G>A (p.Gly326Ser)
c.1582G>A (p.Gly528Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840255G>CCA393373962ALPK3c.976G>C (p.Gly326Arg)
c.1582G>C (p.Gly528Arg)
15g.84840255G=CA2192368262ALPK3c.976G= (p.Gly326=)
c.1582G= (p.Gly528=)
15g.84840255G>TCA393373963ALPK3c.976G>T (p.Gly326Cys)
c.1582G>T (p.Gly528Cys)
15g.84840256G>ACA393373964ALPK3c.977G>A (p.Gly326Asp)
c.1583G>A (p.Gly528Asp)
15g.84840256G>CCA393373966ALPK3c.977G>C (p.Gly326Ala)
c.1583G>C (p.Gly528Ala)
15g.84840256G>TCA393373968ALPK3c.977G>T (p.Gly326Val)
c.1583G>T (p.Gly528Val)
ClinVar gnomAD v4
15g.84840257C>ACA492277370ALPK3c.978C>A (p.Gly326=)
c.1584C>A (p.Gly528=)
15g.84840257C>GCA492277374ALPK3c.978C>G (p.Gly326=)
c.1584C>G (p.Gly528=)
15g.84840257C>TCA492277371ALPK3c.978C>T (p.Gly326=)
c.1584C>T (p.Gly528=)
15g.84840258C>ACA393373969ALPK3c.979C>A (p.Leu327Met)
c.1585C>A (p.Leu529Met)
15g.84840258C>GCA393373971ALPK3c.979C>G (p.Leu327Val)
c.1585C>G (p.Leu529Val)
15g.84840258C>TCA492277376ALPK3c.979C>T (p.Leu327=)
c.1585C>T (p.Leu529=)
15g.84840259T>ACA393373976ALPK3c.980T>A (p.Leu327Gln)
c.1586T>A (p.Leu529Gln)
15g.84840259T>CCA393373975ALPK3c.980T>C (p.Leu327Pro)
c.1586T>C (p.Leu529Pro)
ClinVar dbSNP
15g.84840259T>GCA7709101ALPK3c.980T>G (p.Leu327Arg)
c.1586T>G (p.Leu529Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840259T=CA2192368263ALPK3c.980T= (p.Leu327=)
c.1586T= (p.Leu529=)
15g.84840260G>ACA492277381ALPK3c.981G>A (p.Leu327=)
c.1587G>A (p.Leu529=)
15g.84840260G>CCA492277382ALPK3c.981G>C (p.Leu327=)
c.1587G>C (p.Leu529=)
dbSNP gnomAD v4
15g.84840260G=CA2192368264ALPK3c.981G= (p.Leu327=)
c.1587G= (p.Leu529=)
15g.84840260G>TCA492277383ALPK3c.981G>T (p.Leu327=)
c.1587G>T (p.Leu529=)
15g.84840261C>ACA492277386ALPK3c.982C>A (p.Arg328=)
c.1588C>A (p.Arg530=)
gnomAD v4
15g.84840261C=CA2192368265ALPK3c.982C= (p.Arg328=)
c.1588C= (p.Arg530=)
15g.84840261C>GCA393373978ALPK3c.982C>G (p.Arg328Gly)
c.1588C>G (p.Arg530Gly)
15g.84840261C>TCA393373980ALPK3c.982C>T (p.Arg328Trp)
c.1588C>T (p.Arg530Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.84840262G>ACA393373981ALPK3c.983G>A (p.Arg328Gln)
c.1589G>A (p.Arg530Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840262G>CCA393373982ALPK3c.983G>C (p.Arg328Pro)
c.1589G>C (p.Arg530Pro)
15g.84840262G=CA2192368266ALPK3c.983G= (p.Arg328=)
c.1589G= (p.Arg530=)
15g.84840262G>TCA393373983ALPK3c.983G>T (p.Arg328Leu)
c.1589G>T (p.Arg530Leu)
15g.84840263G>ACA492277395ALPK3c.984G>A (p.Arg328=)
c.1590G>A (p.Arg530=)
15g.84840263G>CCA492277393ALPK3c.984G>C (p.Arg328=)
c.1590G>C (p.Arg530=)
15g.84840263G>TCA492277391ALPK3c.984G>T (p.Arg328=)
c.1590G>T (p.Arg530=)
15g.84840264A=CA2192368267ALPK3c.985A= (p.Lys329=)
c.1591A= (p.Lys531=)
15g.84840264A>CCA7709102ALPK3c.985A>C (p.Lys329Gln)
c.1591A>C (p.Lys531Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840264A>GCA393373984ALPK3c.985A>G (p.Lys329Glu)
c.1591A>G (p.Lys531Glu)
15g.84840264A>TCA393373985ALPK3c.985A>T (p.Lys329Ter)
c.1591A>T (p.Lys531Ter)
15g.84840265A>CCA393373988ALPK3c.986A>C (p.Lys329Thr)
c.1592A>C (p.Lys531Thr)
gnomAD v4
15g.84840265A>GCA393373990ALPK3c.986A>G (p.Lys329Arg)
c.1592A>G (p.Lys531Arg)
gnomAD v4
15g.84840265A>TCA393373991ALPK3c.986A>T (p.Lys329Met)
c.1592A>T (p.Lys531Met)
15g.84840266G>ACA492277401ALPK3c.987G>A (p.Lys329=)
c.1593G>A (p.Lys531=)
dbSNP gnomAD v2 gnomAD v4
15g.84840266G>CCA393373993ALPK3c.987G>C (p.Lys329Asn)
c.1593G>C (p.Lys531Asn)
ClinVar dbSNP gnomAD v2
15g.84840266G=CA2192368268ALPK3c.987G= (p.Lys329=)
c.1593G= (p.Lys531=)
15g.84840266G>TCA393373995ALPK3c.987G>T (p.Lys329Asn)
c.1593G>T (p.Lys531Asn)
15g.84840267C>ACA393373998ALPK3c.988C>A (p.Pro330Thr)
c.1594C>A (p.Pro532Thr)
15g.84840267C>GCA393373999ALPK3c.988C>G (p.Pro330Ala)
c.1594C>G (p.Pro532Ala)
15g.84840267C>TCA393373997ALPK3c.988C>T (p.Pro330Ser)
c.1594C>T (p.Pro532Ser)
15g.84840268C>ACA393374005ALPK3c.989C>A (p.Pro330Gln)
c.1595C>A (p.Pro532Gln)
15g.84840268C>GCA393374001ALPK3c.989C>G (p.Pro330Arg)
c.1595C>G (p.Pro532Arg)
15g.84840268C>TCA393374003ALPK3c.989C>T (p.Pro330Leu)
c.1595C>T (p.Pro532Leu)
dbSNP gnomAD v4
15g.84840269A>CCA492277409ALPK3c.990A>C (p.Pro330=)
c.1596A>C (p.Pro532=)
15g.84840269A>GCA492277411ALPK3c.990A>G (p.Pro330=)
c.1596A>G (p.Pro532=)
15g.84840269A>TCA492277412ALPK3c.990A>T (p.Pro330=)
c.1596A>T (p.Pro532=)
15g.84840270G>ACA393374007ALPK3c.991G>A (p.Glu331Lys)
c.1597G>A (p.Glu533Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.84840270G>CCA393374009ALPK3c.991G>C (p.Glu331Gln)
c.1597G>C (p.Glu533Gln)
15g.84840270G=CA2192368269ALPK3c.991G= (p.Glu331=)
c.1597G= (p.Glu533=)
15g.84840270G>TCA393374011ALPK3c.991G>T (p.Glu331Ter)
c.1597G>T (p.Glu533Ter)
15g.84840271A>CCA393374013ALPK3c.992A>C (p.Glu331Ala)
c.1598A>C (p.Glu533Ala)
15g.84840271A>GCA393374015ALPK3c.992A>G (p.Glu331Gly)
c.1598A>G (p.Glu533Gly)
15g.84840271A>TCA393374018ALPK3c.992A>T (p.Glu331Val)
c.1598A>T (p.Glu533Val)
15g.84840272delCA2630109267ALPK3c.993del (p.Glu331AspfsTer2)
c.1599del (p.Glu533AspfsTer2)
gnomAD v4
15g.84840272G>ACA492277418ALPK3c.993G>A (p.Glu331=)
c.1599G>A (p.Glu533=)
15g.84840272G>CCA393374020ALPK3c.993G>C (p.Glu331Asp)
c.1599G>C (p.Glu533Asp)
dbSNP
15g.84840272G=CA2192368270ALPK3c.993G= (p.Glu331=)
c.1599G= (p.Glu533=)
15g.84840272G>TCA393374022ALPK3c.993G>T (p.Glu331Asp)
c.1599G>T (p.Glu533Asp)
15g.84840273T>ACA393374024ALPK3c.994T>A (p.Leu332Ile)
c.1600T>A (p.Leu534Ile)
15g.84840273T>CCA492277422ALPK3c.994T>C (p.Leu332=)
c.1600T>C (p.Leu534=)
15g.84840273T>GCA393374026ALPK3c.994T>G (p.Leu332Val)
c.1600T>G (p.Leu534Val)
ClinVar
15g.84840274T>ACA393374032ALPK3c.995T>A (p.Leu332Ter)
c.1601T>A (p.Leu534Ter)
15g.84840274T>CCA393374030ALPK3c.995T>C (p.Leu332Ser)
c.1601T>C (p.Leu534Ser)
15g.84840274T>GCA393374028ALPK3c.995T>G (p.Leu332Ter)
c.1601T>G (p.Leu534Ter)
15g.84840275A>CCA393374033ALPK3c.996A>C (p.Leu332Phe)
c.1602A>C (p.Leu534Phe)
15g.84840275A>GCA492277427ALPK3c.996A>G (p.Leu332=)
c.1602A>G (p.Leu534=)
ClinVar
15g.84840275A>TCA393374034ALPK3c.996A>T (p.Leu332Phe)
c.1602A>T (p.Leu534Phe)
15g.84840276G>ACA393374036ALPK3c.997G>A (p.Glu333Lys)
c.1603G>A (p.Glu535Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840276G>CCA393374038ALPK3c.997G>C (p.Glu333Gln)
c.1603G>C (p.Glu535Gln)
gnomAD v4
15g.84840276G=CA2192368271ALPK3c.997G= (p.Glu333=)
c.1603G= (p.Glu535=)
15g.84840276G>TCA393374039ALPK3c.997G>T (p.Glu333Ter)
c.1603G>T (p.Glu535Ter)
15g.84840277A=CA2192368272ALPK3c.998A= (p.Glu333=)
c.1604A= (p.Glu535=)
15g.84840277A>CCA393374042ALPK3c.998A>C (p.Glu333Ala)
c.1604A>C (p.Glu535Ala)
15g.84840277A>GCA393374044ALPK3c.998A>G (p.Glu333Gly)
c.1604A>G (p.Glu535Gly)
15g.84840277A>TCA393374045ALPK3c.998A>T (p.Glu333Val)
c.1604A>T (p.Glu535Val)
dbSNP gnomAD v2
15g.84840278delCA2630109268ALPK3c.999del (p.Lys334ArgfsTer?)
c.1605del (p.Lys536ArgfsTer?)
gnomAD v4
15g.84840278G>ACA492277434ALPK3c.999G>A (p.Glu333=)
c.1605G>A (p.Glu535=)
15g.84840278G>CCA393374046ALPK3c.999G>C (p.Glu333Asp)
c.1605G>C (p.Glu535Asp)
15g.84840278G>TCA393374048ALPK3c.999G>T (p.Glu333Asp)
c.1605G>T (p.Glu535Asp)
15g.84840279A=CA2192368273ALPK3c.1000A= (p.Lys334=)
c.1606A= (p.Lys536=)
15g.84840279A>CCA393374050ALPK3c.1000A>C (p.Lys334Gln)
c.1606A>C (p.Lys536Gln)
15g.84840279A>GCA393374051ALPK3c.1000A>G (p.Lys334Glu)
c.1606A>G (p.Lys536Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.84840279A>TCA393374053ALPK3c.1000A>T (p.Lys334Ter)
c.1606A>T (p.Lys536Ter)
15g.84840280A>CCA393374059ALPK3c.1001A>C (p.Lys334Thr)
c.1607A>C (p.Lys536Thr)
ClinVar
15g.84840280A>GCA393374057ALPK3c.1001A>G (p.Lys334Arg)
c.1607A>G (p.Lys536Arg)
15g.84840280A>TCA393374055ALPK3c.1001A>T (p.Lys334Met)
c.1607A>T (p.Lys536Met)
15g.84840282_84840285delCA2695221131ALPK3c.1003_1006del (p.Ala335ProfsTer?)
c.1609_1612del (p.Ala537ProfsTer?)
15g.84840281G>ACA492277442ALPK3c.1002G>A (p.Lys334=)
c.1608G>A (p.Lys536=)
15g.84840281G>CCA393374063ALPK3c.1002G>C (p.Lys334Asn)
c.1608G>C (p.Lys536Asn)
15g.84840281G>TCA393374061ALPK3c.1002G>T (p.Lys334Asn)
c.1608G>T (p.Lys536Asn)
15g.84840282G>ACA393374065ALPK3c.1003G>A (p.Ala335Thr)
c.1609G>A (p.Ala537Thr)
15g.84840282G>CCA393374067ALPK3c.1003G>C (p.Ala335Pro)
c.1609G>C (p.Ala537Pro)
15g.84840282G=CA2192368274ALPK3c.1003G= (p.Ala335=)
c.1609G= (p.Ala537=)
15g.84840282G>TCA393374069ALPK3c.1003G>T (p.Ala335Ser)
c.1609G>T (p.Ala537Ser)
dbSNP gnomAD v2 gnomAD v4
15g.84840283C>ACA393374071ALPK3c.1004C>A (p.Ala335Glu)
c.1610C>A (p.Ala537Glu)
15g.84840283C>GCA393374073ALPK3c.1004C>G (p.Ala335Gly)
c.1610C>G (p.Ala537Gly)
15g.84840283C>TCA393374074ALPK3c.1004C>T (p.Ala335Val)
c.1610C>T (p.Ala537Val)
gnomAD v4
15g.84840284A>CCA492277457ALPK3c.1005A>C (p.Ala335=)
c.1611A>C (p.Ala537=)
15g.84840284A>GCA492277459ALPK3c.1005A>G (p.Ala335=)
c.1611A>G (p.Ala537=)
15g.84840284A>TCA492277460ALPK3c.1005A>T (p.Ala335=)
c.1611A>T (p.Ala537=)
15g.84840285G>ACA393374076ALPK3c.1006G>A (p.Ala336Thr)
c.1612G>A (p.Ala538Thr)
15g.84840285G>CCA393374077ALPK3c.1006G>C (p.Ala336Pro)
c.1612G>C (p.Ala538Pro)
15g.84840285G>TCA393374079ALPK3c.1006G>T (p.Ala336Ser)
c.1612G>T (p.Ala538Ser)
15g.84840286C>ACA393374082ALPK3c.1007C>A (p.Ala336Asp)
c.1613C>A (p.Ala538Asp)
15g.84840286C=CA2192368275ALPK3c.1007C= (p.Ala336=)
c.1613C= (p.Ala538=)
15g.84840286C>GCA393374083ALPK3c.1007C>G (p.Ala336Gly)
c.1613C>G (p.Ala538Gly)
15g.84840286C>TCA393374086ALPK3c.1007C>T (p.Ala336Val)
c.1613C>T (p.Ala538Val)
dbSNP
15g.84840287C>ACA273665769ALPK3c.1008C>A (p.Ala336=)
c.1614C>A (p.Ala538=)
dbSNP gnomAD v2 gnomAD v4
15g.84840287C=CA2192368276ALPK3c.1008C= (p.Ala336=)
c.1614C= (p.Ala538=)
15g.84840287C>GCA492277467ALPK3c.1008C>G (p.Ala336=)
c.1614C>G (p.Ala538=)
15g.84840287C>TCA492277466ALPK3c.1008C>T (p.Ala336=)
c.1614C>T (p.Ala538=)
dbSNP gnomAD v4
15g.84840288C>ACA393374090ALPK3c.1009C>A (p.Gln337Lys)
c.1615C>A (p.Gln539Lys)
15g.84840288C=CA2192368277ALPK3c.1009C= (p.Gln337=)
c.1615C= (p.Gln539=)
15g.84840288C>GCA393374088ALPK3c.1009C>G (p.Gln337Glu)
c.1615C>G (p.Gln539Glu)
15g.84840288C>TCA393374089ALPK3c.1009C>T (p.Gln337Ter)
c.1615C>T (p.Gln539Ter)
ClinVar dbSNP
15g.84840289A>CCA393374091ALPK3c.1010A>C (p.Gln337Pro)
c.1616A>C (p.Gln539Pro)
15g.84840289A>GCA393374092ALPK3c.1010A>G (p.Gln337Arg)
c.1616A>G (p.Gln539Arg)
15g.84840289A>TCA393374094ALPK3c.1010A>T (p.Gln337Leu)
c.1616A>T (p.Gln539Leu)
15g.84840290A>CCA393374096ALPK3c.1011A>C (p.Gln337His)
c.1617A>C (p.Gln539His)
15g.84840290A>GCA492277477ALPK3c.1011A>G (p.Gln337=)
c.1617A>G (p.Gln539=)
15g.84840290A>TCA393374097ALPK3c.1011A>T (p.Gln337His)
c.1617A>T (p.Gln539His)
15g.84840291A>CCA393374100ALPK3c.1012A>C (p.Ser338Arg)
c.1618A>C (p.Ser540Arg)
15g.84840291A>GCA393374101ALPK3c.1012A>G (p.Ser338Gly)
c.1618A>G (p.Ser540Gly)
15g.84840291A>TCA393374102ALPK3c.1012A>T (p.Ser338Cys)
c.1618A>T (p.Ser540Cys)
15g.84840292G>ACA393374104ALPK3c.1013G>A (p.Ser338Asn)
c.1619G>A (p.Ser540Asn)
15g.84840292G>CCA393374107ALPK3c.1013G>C (p.Ser338Thr)
c.1619G>C (p.Ser540Thr)
15g.84840292G=CA2192368278ALPK3c.1013G= (p.Ser338=)
c.1619G= (p.Ser540=)
15g.84840292G>TCA7709103ALPK3c.1013G>T (p.Ser338Ile)
c.1619G>T (p.Ser540Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840293C>ACA393374110ALPK3c.1014C>A (p.Ser338Arg)
c.1620C>A (p.Ser540Arg)
15g.84840293C=CA2192368279ALPK3c.1014C= (p.Ser338=)
c.1620C= (p.Ser540=)
15g.84840293C>GCA7709104ALPK3c.1014C>G (p.Ser338Arg)
c.1620C>G (p.Ser540Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840293C>TCA492277482ALPK3c.1014C>T (p.Ser338=)
c.1620C>T (p.Ser540=)
ClinVar
15g.84840294C>ACA393374113ALPK3c.1015C>A (p.Arg339Ser)
c.1621C>A (p.Arg541Ser)
ClinVar
15g.84840294C=CA2192368280ALPK3c.1015C= (p.Arg339=)
c.1621C= (p.Arg541=)
15g.84840294C>GCA7709106ALPK3c.1015C>G (p.Arg339Gly)
c.1621C>G (p.Arg541Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840294C>TCA7709105ALPK3c.1015C>T (p.Arg339Cys)
c.1621C>T (p.Arg541Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840295G>ACA393374116ALPK3c.1016G>A (p.Arg339His)
c.1622G>A (p.Arg541His)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.84840295G>CCA393374118ALPK3c.1016G>C (p.Arg339Pro)
c.1622G>C (p.Arg541Pro)
15g.84840295G=CA2192368281ALPK3c.1016G= (p.Arg339=)
c.1622G= (p.Arg541=)
15g.84840295G>TCA393374120ALPK3c.1016G>T (p.Arg339Leu)
c.1622G>T (p.Arg541Leu)
15g.84840296C>ACA492277487ALPK3c.1017C>A (p.Arg339=)
c.1623C>A (p.Arg541=)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.84840296C=CA2192368282ALPK3c.1017C= (p.Arg339=)
c.1623C= (p.Arg541=)
15g.84840296C>GCA492277488ALPK3c.1017C>G (p.Arg339=)
c.1623C>G (p.Arg541=)
15g.84840296C>TCA273665816ALPK3c.1017C>T (p.Arg339=)
c.1623C>T (p.Arg541=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840297C>ACA7709107ALPK3c.1018C>A (p.Arg340Ser)
c.1624C>A (p.Arg542Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840297C=CA2192368283ALPK3c.1018C= (p.Arg340=)
c.1624C= (p.Arg542=)
15g.84840297C>GCA393374123ALPK3c.1018C>G (p.Arg340Gly)
c.1624C>G (p.Arg542Gly)
gnomAD v4
15g.84840297C>TCA393374125ALPK3c.1018C>T (p.Arg340Cys)
c.1624C>T (p.Arg542Cys)
gnomAD v4 COSMIC COSMIC
15g.84840298G>ACA393374131ALPK3c.1019G>A (p.Arg340His)
c.1625G>A (p.Arg542His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840298G>CCA393374129ALPK3c.1019G>C (p.Arg340Pro)
c.1625G>C (p.Arg542Pro)
dbSNP gnomAD v4
15g.84840298G=CA2192368284ALPK3c.1019G= (p.Arg340=)
c.1625G= (p.Arg542=)
15g.84840298G>TCA393374127ALPK3c.1019G>T (p.Arg340Leu)
c.1625G>T (p.Arg542Leu)
COSMIC COSMIC
15g.84840299T>ACA492277492ALPK3c.1020T>A (p.Arg340=)
c.1626T>A (p.Arg542=)
15g.84840299T>CCA492277493ALPK3c.1020T>C (p.Arg340=)
c.1626T>C (p.Arg542=)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.84840299T>GCA492277494ALPK3c.1020T>G (p.Arg340=)
c.1626T>G (p.Arg542=)
15g.84840299T=CA2192368285ALPK3c.1020T= (p.Arg340=)
c.1626T= (p.Arg542=)
15g.84840300T>ACA393374133ALPK3c.1021T>A (p.Ser341Thr)
c.1627T>A (p.Ser543Thr)
15g.84840300T>CCA393374134ALPK3c.1021T>C (p.Ser341Pro)
c.1627T>C (p.Ser543Pro)
15g.84840300T>GCA393374136ALPK3c.1021T>G (p.Ser341Ala)
c.1627T>G (p.Ser543Ala)
15g.84840301C>ACA393374138ALPK3c.1022C>A (p.Ser341Tyr)
c.1628C>A (p.Ser543Tyr)
15g.84840301C>GCA393374139ALPK3c.1022C>G (p.Ser341Cys)
c.1628C>G (p.Ser543Cys)
15g.84840301C>TCA393374140ALPK3c.1022C>T (p.Ser341Phe)
c.1628C>T (p.Ser543Phe)
15g.84840302T>ACA492277501ALPK3c.1023T>A (p.Ser341=)
c.1629T>A (p.Ser543=)
15g.84840302T>CCA492277502ALPK3c.1023T>C (p.Ser341=)
c.1629T>C (p.Ser543=)
15g.84840302T>GCA492277503ALPK3c.1023T>G (p.Ser341=)
c.1629T>G (p.Ser543=)
ClinVar
15g.84840303T>ACA393374143ALPK3c.1024T>A (p.Ser342Thr)
c.1630T>A (p.Ser544Thr)
15g.84840303T>CCA393374145ALPK3c.1024T>C (p.Ser342Pro)
c.1630T>C (p.Ser544Pro)
ClinVar dbSNP
15g.84840303T>GCA393374144ALPK3c.1024T>G (p.Ser342Ala)
c.1630T>G (p.Ser544Ala)
15g.84840303T=CA2192368286ALPK3c.1024T= (p.Ser342=)
c.1630T= (p.Ser544=)
15g.84840304C>ACA393374147ALPK3c.1025C>A (p.Ser342Ter)
c.1631C>A (p.Ser544Ter)
15g.84840304C=CA2192368287ALPK3c.1025C= (p.Ser342=)
c.1631C= (p.Ser544=)
15g.84840304C>GCA393374149ALPK3c.1025C>G (p.Ser342Ter)
c.1631C>G (p.Ser544Ter)
15g.84840304C>TCA273665841ALPK3c.1025C>T (p.Ser342Leu)
c.1631C>T (p.Ser544Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840305A=CA2192368288ALPK3c.1026A= (p.Ser342=)
c.1632A= (p.Ser544=)
15g.84840305A>CCA492277508ALPK3c.1026A>C (p.Ser342=)
c.1632A>C (p.Ser544=)
15g.84840305A>GCA7709108ALPK3c.1026A>G (p.Ser342=)
c.1632A>G (p.Ser544=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840305A>TCA492277511ALPK3c.1026A>T (p.Ser342=)
c.1632A>T (p.Ser544=)
15g.84840306G>ACA7709109ALPK3c.1027G>A (p.Glu343Lys)
c.1633G>A (p.Glu545Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840306G>CCA393374154ALPK3c.1027G>C (p.Glu343Gln)
c.1633G>C (p.Glu545Gln)
15g.84840306G=CA2192368289ALPK3c.1027G= (p.Glu343=)
c.1633G= (p.Glu545=)
15g.84840306G>TCA393374155ALPK3c.1027G>T (p.Glu343Ter)
c.1633G>T (p.Glu545Ter)
15g.84840307A>CCA393374157ALPK3c.1028A>C (p.Glu343Ala)
c.1634A>C (p.Glu545Ala)
15g.84840307A>GCA393374158ALPK3c.1028A>G (p.Glu343Gly)
c.1634A>G (p.Glu545Gly)
15g.84840307A>TCA393374160ALPK3c.1028A>T (p.Glu343Val)
c.1634A>T (p.Glu545Val)
15g.84840308A>CCA393374162ALPK3c.1029A>C (p.Glu343Asp)
c.1635A>C (p.Glu545Asp)
15g.84840308A>GCA492277513ALPK3c.1029A>G (p.Glu343=)
c.1635A>G (p.Glu545=)
15g.84840308A>TCA393374163ALPK3c.1029A>T (p.Glu343Asp)
c.1635A>T (p.Glu545Asp)
15g.84840309A>CCA393374166ALPK3c.1030A>C (p.Asn344His)
c.1636A>C (p.Asn546His)
15g.84840309A>GCA393374168ALPK3c.1030A>G (p.Asn344Asp)
c.1636A>G (p.Asn546Asp)
15g.84840309A>TCA393374167ALPK3c.1030A>T (p.Asn344Tyr)
c.1636A>T (p.Asn546Tyr)
15g.84840310A=CA2192368290ALPK3c.1031A= (p.Asn344=)
c.1637A= (p.Asn546=)
15g.84840310A>CCA393374170ALPK3c.1031A>C (p.Asn344Thr)
c.1637A>C (p.Asn546Thr)
dbSNP
15g.84840310A>GCA393374172ALPK3c.1031A>G (p.Asn344Ser)
c.1637A>G (p.Asn546Ser)
15g.84840310A>TCA393374173ALPK3c.1031A>T (p.Asn344Ile)
c.1637A>T (p.Asn546Ile)
15g.84840311C>ACA393374175ALPK3c.1032C>A (p.Asn344Lys)
c.1638C>A (p.Asn546Lys)
15g.84840311C>GCA393374176ALPK3c.1032C>G (p.Asn344Lys)
c.1638C>G (p.Asn546Lys)
15g.84840311C>TCA492277519ALPK3c.1032C>T (p.Asn344=)
c.1638C>T (p.Asn546=)
15g.84840312T>ACA393374179ALPK3c.1033T>A (p.Cys345Ser)
c.1639T>A (p.Cys547Ser)
15g.84840312T>CCA393374180ALPK3c.1033T>C (p.Cys345Arg)
c.1639T>C (p.Cys547Arg)
15g.84840312T>GCA393374182ALPK3c.1033T>G (p.Cys345Gly)
c.1639T>G (p.Cys547Gly)
15g.84840313G>ACA393374183ALPK3c.1034G>A (p.Cys345Tyr)
c.1640G>A (p.Cys547Tyr)
15g.84840313G>CCA393374184ALPK3c.1034G>C (p.Cys345Ser)
c.1640G>C (p.Cys547Ser)
15g.84840313G>TCA393374185ALPK3c.1034G>T (p.Cys345Phe)
c.1640G>T (p.Cys547Phe)
15g.84840314C>ACA393374187ALPK3c.1035C>A (p.Cys345Ter)
c.1641C>A (p.Cys547Ter)
15g.84840314C>GCA393374188ALPK3c.1035C>G (p.Cys345Trp)
c.1641C>G (p.Cys547Trp)
15g.84840314C>TCA492277523ALPK3c.1035C>T (p.Cys345=)
c.1641C>T (p.Cys547=)
15g.84840315_84840318dupCA2582342626ALPK3c.1036_1039dup (p.Pro347HisfsTer8)
c.1642_1645dup (p.Pro549HisfsTer8)
ClinVar
15g.84840315A=CA2192368291ALPK3c.1036A= (p.Ile346=)
c.1642A= (p.Ile548=)
15g.84840315A>CCA7709110ALPK3c.1036A>C (p.Ile346Leu)
c.1642A>C (p.Ile548Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840315A>GCA393374191ALPK3c.1036A>G (p.Ile346Val)
c.1642A>G (p.Ile548Val)
15g.84840315A>TCA393374189ALPK3c.1036A>T (p.Ile346Phe)
c.1642A>T (p.Ile548Phe)
15g.84840316T>ACA393374193ALPK3c.1037T>A (p.Ile346Asn)
c.1643T>A (p.Ile548Asn)
15g.84840316T>CCA393374195ALPK3c.1037T>C (p.Ile346Thr)
c.1643T>C (p.Ile548Thr)
15g.84840316T>GCA393374196ALPK3c.1037T>G (p.Ile346Ser)
c.1643T>G (p.Ile548Ser)
15g.84840317C>ACA492277527ALPK3c.1038C>A (p.Ile346=)
c.1644C>A (p.Ile548=)
15g.84840317C>GCA393374198ALPK3c.1038C>G (p.Ile346Met)
c.1644C>G (p.Ile548Met)
15g.84840317C>TCA492277528ALPK3c.1038C>T (p.Ile346=)
c.1644C>T (p.Ile548=)
dbSNP
15g.84840318C>ACA393374200ALPK3c.1039C>A (p.Pro347Thr)
c.1645C>A (p.Pro549Thr)
15g.84840318C=CA2192368292ALPK3c.1039C= (p.Pro347=)
c.1645C= (p.Pro549=)
15g.84840318C>GCA393374201ALPK3c.1039C>G (p.Pro347Ala)
c.1645C>G (p.Pro549Ala)
dbSNP gnomAD v4
15g.84840318C>TCA393374203ALPK3c.1039C>T (p.Pro347Ser)
c.1645C>T (p.Pro549Ser)
15g.84840319C>ACA393374205ALPK3c.1040C>A (p.Pro347His)
c.1646C>A (p.Pro549His)
dbSNP gnomAD v4
15g.84840319C=CA2192368293ALPK3c.1040C= (p.Pro347=)
c.1646C= (p.Pro549=)
15g.84840319C>GCA393374207ALPK3c.1040C>G (p.Pro347Arg)
c.1646C>G (p.Pro549Arg)
15g.84840319C>TCA393374208ALPK3c.1040C>T (p.Pro347Leu)
c.1646C>T (p.Pro549Leu)
15g.84840320C>ACA492277531ALPK3c.1041C>A (p.Pro347=)
c.1647C>A (p.Pro549=)
15g.84840320C=CA2192368294ALPK3c.1041C= (p.Pro347=)
c.1647C= (p.Pro549=)
15g.84840320C>GCA492277532ALPK3c.1041C>G (p.Pro347=)
c.1647C>G (p.Pro549=)
15g.84840320C>TCA492277534ALPK3c.1041C>T (p.Pro347=)
c.1647C>T (p.Pro549=)
dbSNP gnomAD v2 gnomAD v4
15g.84840321A=CA2192368295ALPK3c.1042A= (p.Ser348=)
c.1648A= (p.Ser550=)
15g.84840321A>CCA393374213ALPK3c.1042A>C (p.Ser348Arg)
c.1648A>C (p.Ser550Arg)
15g.84840321A>GCA393374211ALPK3c.1042A>G (p.Ser348Gly)
c.1648A>G (p.Ser550Gly)
dbSNP gnomAD v4
15g.84840321A>TCA393374209ALPK3c.1042A>T (p.Ser348Cys)
c.1648A>T (p.Ser550Cys)
15g.84840322G>ACA393374215ALPK3c.1043G>A (p.Ser348Asn)
c.1649G>A (p.Ser550Asn)
ClinVar dbSNP gnomAD v4
15g.84840322G>CCA393374219ALPK3c.1043G>C (p.Ser348Thr)
c.1649G>C (p.Ser550Thr)
gnomAD v4
15g.84840322G>TCA393374217ALPK3c.1043G>T (p.Ser348Ile)
c.1649G>T (p.Ser550Ile)
15g.84840323C>ACA393374221ALPK3c.1044C>A (p.Ser348Arg)
c.1650C>A (p.Ser550Arg)
gnomAD v4
15g.84840323C=CA2192368296ALPK3c.1044C= (p.Ser348=)
c.1650C= (p.Ser550=)
15g.84840323C>GCA393374224ALPK3c.1044C>G (p.Ser348Arg)
c.1650C>G (p.Ser550Arg)
15g.84840323C>TCA273665852ALPK3c.1044C>T (p.Ser348=)
c.1650C>T (p.Ser550=)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.84840324T>ACA393374226ALPK3c.1045T>A (p.Ser349Thr)
c.1651T>A (p.Ser551Thr)
15g.84840324T>CCA393374227ALPK3c.1045T>C (p.Ser349Pro)
c.1651T>C (p.Ser551Pro)
gnomAD v4
15g.84840324T>GCA393374229ALPK3c.1045T>G (p.Ser349Ala)
c.1651T>G (p.Ser551Ala)
gnomAD v4
15g.84840325C>ACA393374230ALPK3c.1046C>A (p.Ser349Ter)
c.1652C>A (p.Ser551Ter)
15g.84840325C>GCA393374232ALPK3c.1046C>G (p.Ser349Ter)
c.1652C>G (p.Ser551Ter)
15g.84840325C>TCA393374233ALPK3c.1046C>T (p.Ser349Leu)
c.1652C>T (p.Ser551Leu)
gnomAD v4
15g.84840326A>CCA492277542ALPK3c.1047A>C (p.Ser349=)
c.1653A>C (p.Ser551=)
15g.84840326A>GCA492277543ALPK3c.1047A>G (p.Ser349=)
c.1653A>G (p.Ser551=)
15g.84840326A>TCA492277544ALPK3c.1047A>T (p.Ser349=)
c.1653A>T (p.Ser551=)
15g.84840327G>ACA393374239ALPK3c.1048G>A (p.Asp350Asn)
c.1654G>A (p.Asp552Asn)
15g.84840327G>CCA393374237ALPK3c.1048G>C (p.Asp350His)
c.1654G>C (p.Asp552His)
15g.84840327G>TCA393374235ALPK3c.1048G>T (p.Asp350Tyr)
c.1654G>T (p.Asp552Tyr)
15g.84840328A>CCA393374241ALPK3c.1049A>C (p.Asp350Ala)
c.1655A>C (p.Asp552Ala)
15g.84840328A>GCA393374243ALPK3c.1049A>G (p.Asp350Gly)
c.1655A>G (p.Asp552Gly)
15g.84840328A>TCA393374245ALPK3c.1049A>T (p.Asp350Val)
c.1655A>T (p.Asp552Val)
15g.84840329C>ACA393374246ALPK3c.1050C>A (p.Asp350Glu)
c.1656C>A (p.Asp552Glu)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.84840329C=CA2192368297ALPK3c.1050C= (p.Asp350=)
c.1656C= (p.Asp552=)
15g.84840329C>GCA7709112ALPK3c.1050C>G (p.Asp350Glu)
c.1656C>G (p.Asp552Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840329C>TCA7709111ALPK3c.1050C>T (p.Asp350=)
c.1656C>T (p.Asp552=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840330G>ACA7709113ALPK3c.1051G>A (p.Glu351Lys)
c.1657G>A (p.Glu553Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840330G>CCA393374252ALPK3c.1051G>C (p.Glu351Gln)
c.1657G>C (p.Glu553Gln)
ClinVar dbSNP
15g.84840330G=CA2192368298ALPK3c.1051G= (p.Glu351=)
c.1657G= (p.Glu553=)
15g.84840330G>TCA393374250ALPK3c.1051G>T (p.Glu351Ter)
c.1657G>T (p.Glu553Ter)
15g.84840331A>CCA393374253ALPK3c.1052A>C (p.Glu351Ala)
c.1658A>C (p.Glu553Ala)
15g.84840331A>GCA393374255ALPK3c.1052A>G (p.Glu351Gly)
c.1658A>G (p.Glu553Gly)
15g.84840331A>TCA393374256ALPK3c.1052A>T (p.Glu351Val)
c.1658A>T (p.Glu553Val)
15g.84840332G>ACA273665855ALPK3c.1053G>A (p.Glu351=)
c.1659G>A (p.Glu553=)
dbSNP gnomAD v4
15g.84840332G>CCA393374257ALPK3c.1053G>C (p.Glu351Asp)
c.1659G>C (p.Glu553Asp)
15g.84840332G=CA2192368299ALPK3c.1053G= (p.Glu351=)
c.1659G= (p.Glu553=)
15g.84840332G>TCA393374258ALPK3c.1053G>T (p.Glu351Asp)
c.1659G>T (p.Glu553Asp)
dbSNP gnomAD v4
15g.84840333C>ACA393374260ALPK3c.1054C>A (p.Pro352Thr)
c.1660C>A (p.Pro554Thr)
15g.84840333C=CA2192368300ALPK3c.1054C= (p.Pro352=)
c.1660C= (p.Pro554=)
15g.84840333C>GCA393374262ALPK3c.1054C>G (p.Pro352Ala)
c.1660C>G (p.Pro554Ala)
15g.84840333C>TCA393374264ALPK3c.1054C>T (p.Pro352Ser)
c.1660C>T (p.Pro554Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840334dupCA2580090121ALPK3c.1055dup (p.Asp353Ter)
c.1661dup (p.Asp555Ter)
ClinVar

Number of alleles fetched