Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.84840484C>ACA393374794ALPK3c.1205C>A (p.Ala402Asp)
c.1811C>A (p.Ala604Asp)
15g.84840484C=CA2192368355ALPK3c.1205C= (p.Ala402=)
c.1811C= (p.Ala604=)
15g.84840484C>GCA393374796ALPK3c.1205C>G (p.Ala402Gly)
c.1811C>G (p.Ala604Gly)
15g.84840484C>TCA393374797ALPK3c.1205C>T (p.Ala402Val)
c.1811C>T (p.Ala604Val)
15g.84840487dupCA2630109270ALPK3c.1208dup (p.Gly404TrpfsTer?)
c.1814dup (p.Gly606TrpfsTer?)
gnomAD v4
15g.84840485C>ACA492277266ALPK3c.1206C>A (p.Ala402=)
c.1812C>A (p.Ala604=)
15g.84840485C=CA2192368357ALPK3c.1206C= (p.Ala402=)
c.1812C= (p.Ala604=)
15g.84840485C>GCA7709139ALPK3c.1206C>G (p.Ala402=)
c.1812C>G (p.Ala604=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840485C>TCA492277267ALPK3c.1206C>T (p.Ala402=)
c.1812C>T (p.Ala604=)
COSMIC COSMIC
15g.84840488_84840493dupCA2192368356ALPK3c.1209_1214dup (p.Pro405_Gly406insGlyPro)
c.1815_1820dup (p.Pro607_Gly608insGlyPro)
dbSNP gnomAD v4
15g.84840486C>ACA393374801ALPK3c.1207C>A (p.Pro403Thr)
c.1813C>A (p.Pro605Thr)
15g.84840486C=CA2192368358ALPK3c.1207C= (p.Pro403=)
c.1813C= (p.Pro605=)
15g.84840486C>GCA7709141ALPK3c.1207C>G (p.Pro403Ala)
c.1813C>G (p.Pro605Ala)
dbSNP ExAC
15g.84840486C>TCA7709140ALPK3c.1207C>T (p.Pro403Ser)
c.1813C>T (p.Pro605Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840487C>ACA393374804ALPK3c.1208C>A (p.Pro403His)
c.1814C>A (p.Pro605His)
15g.84840487C>GCA393374806ALPK3c.1208C>G (p.Pro403Arg)
c.1814C>G (p.Pro605Arg)
15g.84840487C>TCA393374810ALPK3c.1208C>T (p.Pro403Leu)
c.1814C>T (p.Pro605Leu)
15g.84840488T>ACA492277268ALPK3c.1209T>A (p.Pro403=)
c.1815T>A (p.Pro605=)
15g.84840488T>CCA492277269ALPK3c.1209T>C (p.Pro403=)
c.1815T>C (p.Pro605=)
15g.84840488T>GCA492277270ALPK3c.1209T>G (p.Pro403=)
c.1815T>G (p.Pro605=)
15g.84840488T=CA2192368359ALPK3c.1209T= (p.Pro403=)
c.1815T= (p.Pro605=)
15g.84840489G>ACA393374813ALPK3c.1210G>A (p.Gly404Ser)
c.1816G>A (p.Gly606Ser)
15g.84840489G>CCA393374815ALPK3c.1210G>C (p.Gly404Arg)
c.1816G>C (p.Gly606Arg)
15g.84840489G>TCA393374812ALPK3c.1210G>T (p.Gly404Cys)
c.1816G>T (p.Gly606Cys)
15g.84840499_84840504dupCA7709142ALPK3c.1220_1225dup (p.Gly408_Gln409insProGly)
c.1826_1831dup (p.Gly610_Gln611insProGly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840499_84840504delCA2630109271ALPK3c.1220_1225del (p.Pro407_Gly408del)
c.1826_1831del (p.Pro609_Gly610del)
gnomAD v4
15g.84840490G>ACA393374821ALPK3c.1211G>A (p.Gly404Asp)
c.1817G>A (p.Gly606Asp)
15g.84840490G>CCA393374818ALPK3c.1211G>C (p.Gly404Ala)
c.1817G>C (p.Gly606Ala)
gnomAD v4
15g.84840490G>TCA393374820ALPK3c.1211G>T (p.Gly404Val)
c.1817G>T (p.Gly606Val)
15g.84840491C>ACA492277273ALPK3c.1212C>A (p.Gly404=)
c.1818C>A (p.Gly606=)
15g.84840491C>GCA492277272ALPK3c.1212C>G (p.Gly404=)
c.1818C>G (p.Gly606=)
15g.84840491C>TCA492277271ALPK3c.1212C>T (p.Gly404=)
c.1818C>T (p.Gly606=)
gnomAD v4
15g.84840492C>ACA393374823ALPK3c.1213C>A (p.Pro405Thr)
c.1819C>A (p.Pro607Thr)
15g.84840492C>GCA393374825ALPK3c.1213C>G (p.Pro405Ala)
c.1819C>G (p.Pro607Ala)
15g.84840492C>TCA393374829ALPK3c.1213C>T (p.Pro405Ser)
c.1819C>T (p.Pro607Ser)
15g.84840493C>ACA393374831ALPK3c.1214C>A (p.Pro405Gln)
c.1820C>A (p.Pro607Gln)
gnomAD v4
15g.84840493C=CA2192368360ALPK3c.1214C= (p.Pro405=)
c.1820C= (p.Pro607=)
15g.84840493C>GCA393374833ALPK3c.1214C>G (p.Pro405Arg)
c.1820C>G (p.Pro607Arg)
gnomAD v4
15g.84840493C>TCA7709143ALPK3c.1214C>T (p.Pro405Leu)
c.1820C>T (p.Pro607Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840494A>CCA492277274ALPK3c.1215A>C (p.Pro405=)
c.1821A>C (p.Pro607=)
gnomAD v4
15g.84840494A>GCA492277275ALPK3c.1215A>G (p.Pro405=)
c.1821A>G (p.Pro607=)
15g.84840494A>TCA492277276ALPK3c.1215A>T (p.Pro405=)
c.1821A>T (p.Pro607=)
15g.84840495G>ACA393374842ALPK3c.1216G>A (p.Gly406Ser)
c.1822G>A (p.Gly608Ser)
gnomAD v4
15g.84840495G>CCA393374845ALPK3c.1216G>C (p.Gly406Arg)
c.1822G>C (p.Gly608Arg)
15g.84840495G>TCA393374847ALPK3c.1216G>T (p.Gly406Cys)
c.1822G>T (p.Gly608Cys)
15g.84840496G>ACA393374853ALPK3c.1217G>A (p.Gly406Asp)
c.1823G>A (p.Gly608Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840496G>CCA393374850ALPK3c.1217G>C (p.Gly406Ala)
c.1823G>C (p.Gly608Ala)
15g.84840496G=CA2192368361ALPK3c.1217G= (p.Gly406=)
c.1823G= (p.Gly608=)
15g.84840496G>TCA393374848ALPK3c.1217G>T (p.Gly406Val)
c.1823G>T (p.Gly608Val)
15g.84840497C>ACA492277277ALPK3c.1218C>A (p.Gly406=)
c.1824C>A (p.Gly608=)
dbSNP gnomAD v2 gnomAD v4
15g.84840497C=CA2192368362ALPK3c.1218C= (p.Gly406=)
c.1824C= (p.Gly608=)
15g.84840497C>GCA492277278ALPK3c.1218C>G (p.Gly406=)
c.1824C>G (p.Gly608=)
gnomAD v4
15g.84840497C>TCA7709144ALPK3c.1218C>T (p.Gly406=)
c.1824C>T (p.Gly608=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840498C>ACA393374857ALPK3c.1219C>A (p.Pro407Thr)
c.1825C>A (p.Pro609Thr)
15g.84840498C=CA2192368363ALPK3c.1219C= (p.Pro407=)
c.1825C= (p.Pro609=)
15g.84840498C>GCA393374860ALPK3c.1219C>G (p.Pro407Ala)
c.1825C>G (p.Pro609Ala)
15g.84840498C>TCA393374863ALPK3c.1219C>T (p.Pro407Ser)
c.1825C>T (p.Pro609Ser)
dbSNP gnomAD v2 gnomAD v4
15g.84840499C>ACA393374865ALPK3c.1220C>A (p.Pro407Gln)
c.1826C>A (p.Pro609Gln)
15g.84840499C>GCA393374873ALPK3c.1220C>G (p.Pro407Arg)
c.1826C>G (p.Pro609Arg)
15g.84840499C>TCA393374874ALPK3c.1220C>T (p.Pro407Leu)
c.1826C>T (p.Pro609Leu)
15g.84840500A>CCA492277279ALPK3c.1221A>C (p.Pro407=)
c.1827A>C (p.Pro609=)
15g.84840500A>GCA492277280ALPK3c.1221A>G (p.Pro407=)
c.1827A>G (p.Pro609=)
gnomAD v4
15g.84840500A>TCA492277281ALPK3c.1221A>T (p.Pro407=)
c.1827A>T (p.Pro609=)
15g.84840501G>ACA393374876ALPK3c.1222G>A (p.Gly408Ser)
c.1828G>A (p.Gly610Ser)
gnomAD v4
15g.84840501G>CCA393374877ALPK3c.1222G>C (p.Gly408Arg)
c.1828G>C (p.Gly610Arg)
gnomAD v4
15g.84840501G>TCA393374878ALPK3c.1222G>T (p.Gly408Cys)
c.1828G>T (p.Gly610Cys)
15g.84840502G>ACA393374881ALPK3c.1223G>A (p.Gly408Asp)
c.1829G>A (p.Gly610Asp)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.84840502G>CCA393374884ALPK3c.1223G>C (p.Gly408Ala)
c.1829G>C (p.Gly610Ala)
gnomAD v4
15g.84840502G=CA2192368364ALPK3c.1223G= (p.Gly408=)
c.1829G= (p.Gly610=)
15g.84840502G>TCA393374885ALPK3c.1223G>T (p.Gly408Val)
c.1829G>T (p.Gly610Val)
15g.84840503C>ACA492277282ALPK3c.1224C>A (p.Gly408=)
c.1830C>A (p.Gly610=)
15g.84840503C=CA2192368365ALPK3c.1224C= (p.Gly408=)
c.1830C= (p.Gly610=)
15g.84840503C>GCA492277283ALPK3c.1224C>G (p.Gly408=)
c.1830C>G (p.Gly610=)
15g.84840503C>TCA492277284ALPK3c.1224C>T (p.Gly408=)
c.1830C>T (p.Gly610=)
ClinVar dbSNP
15g.84840504C>ACA393374893ALPK3c.1225C>A (p.Gln409Lys)
c.1831C>A (p.Gln611Lys)
15g.84840504C>GCA393374892ALPK3c.1225C>G (p.Gln409Glu)
c.1831C>G (p.Gln611Glu)
15g.84840504C>TCA393374889ALPK3c.1225C>T (p.Gln409Ter)
c.1831C>T (p.Gln611Ter)
15g.84840505A=CA2192368366ALPK3c.1226A= (p.Gln409=)
c.1832A= (p.Gln611=)
15g.84840505A>CCA393374897ALPK3c.1226A>C (p.Gln409Pro)
c.1832A>C (p.Gln611Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.84840505A>GCA7709145ALPK3c.1226A>G (p.Gln409Arg)
c.1832A>G (p.Gln611Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840505A>TCA273666053ALPK3c.1226A>T (p.Gln409Leu)
c.1832A>T (p.Gln611Leu)
ClinVar dbSNP gnomAD v4
15g.84840506G>ACA492277285ALPK3c.1227G>A (p.Gln409=)
c.1833G>A (p.Gln611=)
gnomAD v4 COSMIC COSMIC
15g.84840506G>CCA393374902ALPK3c.1227G>C (p.Gln409His)
c.1833G>C (p.Gln611His)
15g.84840506G>TCA393374904ALPK3c.1227G>T (p.Gln409His)
c.1833G>T (p.Gln611His)
15g.84840507G>ACA393374907ALPK3c.1228G>A (p.Glu410Lys)
c.1834G>A (p.Glu612Lys)
15g.84840507G>CCA393374909ALPK3c.1228G>C (p.Glu410Gln)
c.1834G>C (p.Glu612Gln)
15g.84840507G>TCA393374911ALPK3c.1228G>T (p.Glu410Ter)
c.1834G>T (p.Glu612Ter)
15g.84840511_84840527delCA2739269633ALPK3c.1232_1248del (p.Val411GlyfsTer?)
c.1838_1854del (p.Val613GlyfsTer?)
ClinVar
15g.84840508A>CCA393374914ALPK3c.1229A>C (p.Glu410Ala)
c.1835A>C (p.Glu612Ala)
15g.84840508A>GCA393374920ALPK3c.1229A>G (p.Glu410Gly)
c.1835A>G (p.Glu612Gly)
15g.84840508A>TCA393374922ALPK3c.1229A>T (p.Glu410Val)
c.1835A>T (p.Glu612Val)
15g.84840509A>CCA393374925ALPK3c.1230A>C (p.Glu410Asp)
c.1836A>C (p.Glu612Asp)
15g.84840509A>GCA492277289ALPK3c.1230A>G (p.Glu410=)
c.1836A>G (p.Glu612=)
gnomAD v4
15g.84840509A>TCA393374928ALPK3c.1230A>T (p.Glu410Asp)
c.1836A>T (p.Glu612Asp)
gnomAD v4
15g.84840510G>ACA393374932ALPK3c.1231G>A (p.Val411Met)
c.1837G>A (p.Val613Met)
15g.84840510G>CCA393374934ALPK3c.1231G>C (p.Val411Leu)
c.1837G>C (p.Val613Leu)
15g.84840510G>TCA393374930ALPK3c.1231G>T (p.Val411Leu)
c.1837G>T (p.Val613Leu)
15g.84840511T>ACA393374936ALPK3c.1232T>A (p.Val411Glu)
c.1838T>A (p.Val613Glu)
15g.84840511T>CCA393374938ALPK3c.1232T>C (p.Val411Ala)
c.1838T>C (p.Val613Ala)
gnomAD v4
15g.84840511T>GCA393374939ALPK3c.1232T>G (p.Val411Gly)
c.1838T>G (p.Val613Gly)
15g.84840512G>ACA492277290ALPK3c.1233G>A (p.Val411=)
c.1839G>A (p.Val613=)
ClinVar
15g.84840512G>CCA492277293ALPK3c.1233G>C (p.Val411=)
c.1839G>C (p.Val613=)
15g.84840512G>TCA492277292ALPK3c.1233G>T (p.Val411=)
c.1839G>T (p.Val613=)
15g.84840513T>ACA393374941ALPK3c.1234T>A (p.Tyr412Asn)
c.1840T>A (p.Tyr614Asn)
15g.84840513T>CCA393374942ALPK3c.1234T>C (p.Tyr412His)
c.1840T>C (p.Tyr614His)
15g.84840513T>GCA393374945ALPK3c.1234T>G (p.Tyr412Asp)
c.1840T>G (p.Tyr614Asp)
15g.84840514A>CCA393374947ALPK3c.1235A>C (p.Tyr412Ser)
c.1841A>C (p.Tyr614Ser)
15g.84840514A>GCA393374956ALPK3c.1235A>G (p.Tyr412Cys)
c.1841A>G (p.Tyr614Cys)
15g.84840514A>TCA393374949ALPK3c.1235A>T (p.Tyr412Phe)
c.1841A>T (p.Tyr614Phe)
15g.84840515T>ACA393374959ALPK3c.1236T>A (p.Tyr412Ter)
c.1842T>A (p.Tyr614Ter)
15g.84840515T>CCA492277295ALPK3c.1236T>C (p.Tyr412=)
c.1842T>C (p.Tyr614=)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.84840515T>GCA393374961ALPK3c.1236T>G (p.Tyr412Ter)
c.1842T>G (p.Tyr614Ter)
15g.84840515T=CA2192368367ALPK3c.1236T= (p.Tyr412=)
c.1842T= (p.Tyr614=)
15g.84840516T>ACA393374965ALPK3c.1237T>A (p.Phe413Ile)
c.1843T>A (p.Phe615Ile)
15g.84840516T>CCA393374967ALPK3c.1237T>C (p.Phe413Leu)
c.1843T>C (p.Phe615Leu)
15g.84840516T>GCA393374971ALPK3c.1237T>G (p.Phe413Val)
c.1843T>G (p.Phe615Val)
ClinVar dbSNP
15g.84840516T=CA2192368368ALPK3c.1237T= (p.Phe413=)
c.1843T= (p.Phe615=)
15g.84840517T>ACA393374977ALPK3c.1238T>A (p.Phe413Tyr)
c.1844T>A (p.Phe615Tyr)
15g.84840517T>CCA393374978ALPK3c.1238T>C (p.Phe413Ser)
c.1844T>C (p.Phe615Ser)
15g.84840517T>GCA393374974ALPK3c.1238T>G (p.Phe413Cys)
c.1844T>G (p.Phe615Cys)
15g.84840518C>ACA7709146ALPK3c.1239C>A (p.Phe413Leu)
c.1845C>A (p.Phe615Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840518C=CA2192368369ALPK3c.1239C= (p.Phe413=)
c.1845C= (p.Phe615=)
15g.84840518C>GCA393374979ALPK3c.1239C>G (p.Phe413Leu)
c.1845C>G (p.Phe615Leu)
15g.84840518C>TCA492277297ALPK3c.1239C>T (p.Phe413=)
c.1845C>T (p.Phe615=)
gnomAD v4
15g.84840519T>ACA393374981ALPK3c.1240T>A (p.Ser414Thr)
c.1846T>A (p.Ser616Thr)
15g.84840519T>CCA393374982ALPK3c.1240T>C (p.Ser414Pro)
c.1846T>C (p.Ser616Pro)
gnomAD v4
15g.84840519T>GCA393374983ALPK3c.1240T>G (p.Ser414Ala)
c.1846T>G (p.Ser616Ala)
15g.84840520C>ACA393374986ALPK3c.1241C>A (p.Ser414Tyr)
c.1847C>A (p.Ser616Tyr)
15g.84840520C=CA2192368370ALPK3c.1241C= (p.Ser414=)
c.1847C= (p.Ser616=)
15g.84840520C>GCA7709147ALPK3c.1241C>G (p.Ser414Cys)
c.1847C>G (p.Ser616Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840520C>TCA7709148ALPK3c.1241C>T (p.Ser414Phe)
c.1847C>T (p.Ser616Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840521C>ACA492277299ALPK3c.1242C>A (p.Ser414=)
c.1848C>A (p.Ser616=)
15g.84840521C=CA2192368372ALPK3c.1242C= (p.Ser414=)
c.1848C= (p.Ser616=)
15g.84840521C>GCA492277300ALPK3c.1242C>G (p.Ser414=)
c.1848C>G (p.Ser616=)
15g.84840521C>TCA273666086ALPK3c.1242C>T (p.Ser414=)
c.1848C>T (p.Ser616=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840521_84840522delinsCTCA2192368371ALPK3c.1242_1243delinsCT (p.Ser414=)
c.1848_1849delinsCT (p.Ser616=)
15g.84840522T>ACA393374988ALPK3c.1243T>A (p.Leu415Met)
c.1849T>A (p.Leu617Met)
15g.84840522T>CCA492277301ALPK3c.1243T>C (p.Leu415=)
c.1849T>C (p.Leu617=)
15g.84840522T>GCA393374989ALPK3c.1243T>G (p.Leu415Val)
c.1849T>G (p.Leu617Val)
ClinVar
15g.84840523delCA7709149ALPK3c.1244del (p.Leu415Ter)
c.1850del (p.Leu617Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840523T>ACA393374991ALPK3c.1244T>A (p.Leu415Ter)
c.1850T>A (p.Leu617Ter)
15g.84840523T>CCA393374993ALPK3c.1244T>C (p.Leu415Ser)
c.1850T>C (p.Leu617Ser)
15g.84840523T>GCA393374995ALPK3c.1244T>G (p.Leu415Trp)
c.1850T>G (p.Leu617Trp)
15g.84840524G>ACA492277305ALPK3c.1245G>A (p.Leu415=)
c.1851G>A (p.Leu617=)
15g.84840524G>CCA7709150ALPK3c.1245G>C (p.Leu415Phe)
c.1851G>C (p.Leu617Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840524G=CA2192368373ALPK3c.1245G= (p.Leu415=)
c.1851G= (p.Leu617=)
15g.84840524G>TCA393374999ALPK3c.1245G>T (p.Leu415Phe)
c.1851G>T (p.Leu617Phe)
15g.84840525A>CCA393375002ALPK3c.1246A>C (p.Lys416Gln)
c.1852A>C (p.Lys618Gln)
15g.84840525A>GCA393375004ALPK3c.1246A>G (p.Lys416Glu)
c.1852A>G (p.Lys618Glu)
15g.84840525A>TCA393375007ALPK3c.1246A>T (p.Lys416Ter)
c.1852A>T (p.Lys618Ter)
15g.84840526A>CCA393375011ALPK3c.1247A>C (p.Lys416Thr)
c.1853A>C (p.Lys618Thr)
15g.84840526A>GCA393375013ALPK3c.1247A>G (p.Lys416Arg)
c.1853A>G (p.Lys618Arg)
15g.84840526A>TCA393375016ALPK3c.1247A>T (p.Lys416Met)
c.1853A>T (p.Lys618Met)
15g.84840527G>ACA7709151ALPK3c.1248G>A (p.Lys416=)
c.1854G>A (p.Lys618=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840527G>CCA393375021ALPK3c.1248G>C (p.Lys416Asn)
c.1854G>C (p.Lys618Asn)
15g.84840527G=CA2192368374ALPK3c.1248G= (p.Lys416=)
c.1854G= (p.Lys618=)
15g.84840527G>TCA393375026ALPK3c.1248G>T (p.Lys416Asn)
c.1854G>T (p.Lys618Asn)
15g.84840528G>ACA7709152ALPK3c.1249G>A (p.Asp417Asn)
c.1855G>A (p.Asp619Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840528G>CCA393375028ALPK3c.1249G>C (p.Asp417His)
c.1855G>C (p.Asp619His)
15g.84840528G=CA2192368375ALPK3c.1249G= (p.Asp417=)
c.1855G= (p.Asp619=)
15g.84840528G>TCA393375029ALPK3c.1249G>T (p.Asp417Tyr)
c.1855G>T (p.Asp619Tyr)
15g.84840529A=CA2192368376ALPK3c.1250A= (p.Asp417=)
c.1856A= (p.Asp619=)
15g.84840529A>CCA393375035ALPK3c.1250A>C (p.Asp417Ala)
c.1856A>C (p.Asp619Ala)
15g.84840529A>GCA7709153ALPK3c.1250A>G (p.Asp417Gly)
c.1856A>G (p.Asp619Gly)
dbSNP ExAC gnomAD v4
15g.84840529A>TCA393375032ALPK3c.1250A>T (p.Asp417Val)
c.1856A>T (p.Asp619Val)
15g.84840530C>ACA393375040ALPK3c.1251C>A (p.Asp417Glu)
c.1857C>A (p.Asp619Glu)
15g.84840530C>GCA393375042ALPK3c.1251C>G (p.Asp417Glu)
c.1857C>G (p.Asp619Glu)
15g.84840530C>TCA492277317ALPK3c.1251C>T (p.Asp417=)
c.1857C>T (p.Asp619=)
gnomAD v4
15g.84840531A=CA2192368377ALPK3c.1252A= (p.Met418=)
c.1858A= (p.Met620=)
15g.84840531A>CCA393375044ALPK3c.1252A>C (p.Met418Leu)
c.1858A>C (p.Met620Leu)
15g.84840531A>GCA393375047ALPK3c.1252A>G (p.Met418Val)
c.1858A>G (p.Met620Val)
dbSNP gnomAD v2 gnomAD v4
15g.84840531A>TCA393375050ALPK3c.1252A>T (p.Met418Leu)
c.1858A>T (p.Met620Leu)
15g.84840532T>ACA393375057ALPK3c.1253T>A (p.Met418Lys)
c.1859T>A (p.Met620Lys)
gnomAD v4
15g.84840532T>CCA393375056ALPK3c.1253T>C (p.Met418Thr)
c.1859T>C (p.Met620Thr)
ClinVar dbSNP gnomAD v4
15g.84840532T>GCA393375054ALPK3c.1253T>G (p.Met418Arg)
c.1859T>G (p.Met620Arg)
15g.84840532T=CA2192368378ALPK3c.1253T= (p.Met418=)
c.1859T= (p.Met620=)
15g.84840533G>ACA7709154ALPK3c.1254G>A (p.Met418Ile)
c.1860G>A (p.Met620Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840533G>CCA393375061ALPK3c.1254G>C (p.Met418Ile)
c.1860G>C (p.Met620Ile)
15g.84840533G=CA2192368379ALPK3c.1254G= (p.Met418=)
c.1860G= (p.Met620=)
15g.84840533G>TCA393375067ALPK3c.1254G>T (p.Met418Ile)
c.1860G>T (p.Met620Ile)
gnomAD v4
15g.84840534T>ACA393375071ALPK3c.1255T>A (p.Tyr419Asn)
c.1861T>A (p.Tyr621Asn)
15g.84840534T>CCA393375073ALPK3c.1255T>C (p.Tyr419His)
c.1861T>C (p.Tyr621His)
gnomAD v4
15g.84840534T>GCA393375076ALPK3c.1255T>G (p.Tyr419Asp)
c.1861T>G (p.Tyr621Asp)
15g.84840535A>CCA393375080ALPK3c.1256A>C (p.Tyr419Ser)
c.1862A>C (p.Tyr621Ser)
15g.84840535A>GCA393375085ALPK3c.1256A>G (p.Tyr419Cys)
c.1862A>G (p.Tyr621Cys)
15g.84840535A>TCA393375082ALPK3c.1256A>T (p.Tyr419Phe)
c.1862A>T (p.Tyr621Phe)
15g.84840536C>ACA393375089ALPK3c.1257C>A (p.Tyr419Ter)
c.1863C>A (p.Tyr621Ter)
gnomAD v4
15g.84840536C>GCA393375091ALPK3c.1257C>G (p.Tyr419Ter)
c.1863C>G (p.Tyr621Ter)
15g.84840536C>TCA492277326ALPK3c.1257C>T (p.Tyr419=)
c.1863C>T (p.Tyr621=)
gnomAD v4
15g.84840537C>ACA393375093ALPK3c.1258C>A (p.Leu420Met)
c.1864C>A (p.Leu622Met)
dbSNP gnomAD v4
15g.84840537C=CA2192368380ALPK3c.1258C= (p.Leu420=)
c.1864C= (p.Leu622=)
15g.84840537C>GCA393375096ALPK3c.1258C>G (p.Leu420Val)
c.1864C>G (p.Leu622Val)
ClinVar
15g.84840537C>TCA492277329ALPK3c.1258C>T (p.Leu420=)
c.1864C>T (p.Leu622=)
gnomAD v4
15g.84840538T>ACA393375098ALPK3c.1259T>A (p.Leu420Gln)
c.1865T>A (p.Leu622Gln)
ClinVar
15g.84840538T>CCA393375100ALPK3c.1259T>C (p.Leu420Pro)
c.1865T>C (p.Leu622Pro)
15g.84840538T>GCA393375103ALPK3c.1259T>G (p.Leu420Arg)
c.1865T>G (p.Leu622Arg)
gnomAD v4
15g.84840539G>ACA7709155ALPK3c.1260G>A (p.Leu420=)
c.1866G>A (p.Leu622=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840539G>CCA492277331ALPK3c.1260G>C (p.Leu420=)
c.1866G>C (p.Leu622=)
15g.84840539G=CA2192368381ALPK3c.1260G= (p.Leu420=)
c.1866G= (p.Leu622=)
15g.84840539G>TCA492277335ALPK3c.1260G>T (p.Leu420=)
c.1866G>T (p.Leu622=)
15g.84840540delCA2533651411ALPK3c.1261del (p.Glu421ArgfsTer17)
c.1867del (p.Glu623ArgfsTer17)
15g.84840540_84840555delCA2630109272ALPK3c.1261_1276del (p.Glu421SerfsTer12)
c.1867_1882del (p.Glu623SerfsTer12)
gnomAD v4
15g.84840540G>ACA393375109ALPK3c.1261G>A (p.Glu421Lys)
c.1867G>A (p.Glu623Lys)
gnomAD v4
15g.84840540G>CCA393375112ALPK3c.1261G>C (p.Glu421Gln)
c.1867G>C (p.Glu623Gln)
15g.84840540G>TCA393375115ALPK3c.1261G>T (p.Glu421Ter)
c.1867G>T (p.Glu623Ter)
15g.84840541A=CA2192368382ALPK3c.1262A= (p.Glu421=)
c.1868A= (p.Glu623=)
15g.84840541A>CCA393375123ALPK3c.1262A>C (p.Glu421Ala)
c.1868A>C (p.Glu623Ala)
15g.84840541A>GCA393375121ALPK3c.1262A>G (p.Glu421Gly)
c.1868A>G (p.Glu623Gly)
dbSNP gnomAD v3 gnomAD v4
15g.84840541A>TCA393375118ALPK3c.1262A>T (p.Glu421Val)
c.1868A>T (p.Glu623Val)
15g.84840542G>ACA492277338ALPK3c.1263G>A (p.Glu421=)
c.1869G>A (p.Glu623=)
15g.84840542G>CCA393375127ALPK3c.1263G>C (p.Glu421Asp)
c.1869G>C (p.Glu623Asp)
15g.84840542G>TCA393375132ALPK3c.1263G>T (p.Glu421Asp)
c.1869G>T (p.Glu623Asp)
15g.84840543A>CCA393375134ALPK3c.1264A>C (p.Asn422His)
c.1870A>C (p.Asn624His)
15g.84840543A>GCA393375140ALPK3c.1264A>G (p.Asn422Asp)
c.1870A>G (p.Asn624Asp)
15g.84840543A>TCA393375137ALPK3c.1264A>T (p.Asn422Tyr)
c.1870A>T (p.Asn624Tyr)
15g.84840544A>CCA393375144ALPK3c.1265A>C (p.Asn422Thr)
c.1871A>C (p.Asn624Thr)
15g.84840544A>GCA393375146ALPK3c.1265A>G (p.Asn422Ser)
c.1871A>G (p.Asn624Ser)
COSMIC COSMIC
15g.84840544A>TCA393375148ALPK3c.1265A>T (p.Asn422Ile)
c.1871A>T (p.Asn624Ile)
15g.84840545C>ACA393375150ALPK3c.1266C>A (p.Asn422Lys)
c.1872C>A (p.Asn624Lys)
15g.84840545C=CA2192368383ALPK3c.1266C= (p.Asn422=)
c.1872C= (p.Asn624=)
15g.84840545C>GCA393375153ALPK3c.1266C>G (p.Asn422Lys)
c.1872C>G (p.Asn624Lys)
15g.84840545C>TCA7709156ALPK3c.1266C>T (p.Asn422=)
c.1872C>T (p.Asn624=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840546A>CCA393375161ALPK3c.1267A>C (p.Thr423Pro)
c.1873A>C (p.Thr625Pro)
15g.84840546A>GCA393375160ALPK3c.1267A>G (p.Thr423Ala)
c.1873A>G (p.Thr625Ala)
15g.84840546A>TCA393375157ALPK3c.1267A>T (p.Thr423Ser)
c.1873A>T (p.Thr625Ser)
15g.84840547C>ACA393375165ALPK3c.1268C>A (p.Thr423Asn)
c.1874C>A (p.Thr625Asn)
15g.84840547C=CA2192368384ALPK3c.1268C= (p.Thr423=)
c.1874C= (p.Thr625=)
15g.84840547C>GCA393375166ALPK3c.1268C>G (p.Thr423Ser)
c.1874C>G (p.Thr625Ser)
15g.84840547C>TCA393375169ALPK3c.1268C>T (p.Thr423Ile)
c.1874C>T (p.Thr625Ile)
dbSNP gnomAD v2 gnomAD v4
15g.84840548C>ACA492277356ALPK3c.1269C>A (p.Thr423=)
c.1875C>A (p.Thr625=)
15g.84840548C>GCA492277357ALPK3c.1269C>G (p.Thr423=)
c.1875C>G (p.Thr625=)
gnomAD v4
15g.84840548C>TCA492277359ALPK3c.1269C>T (p.Thr423=)
c.1875C>T (p.Thr625=)
15g.84840549C>ACA393375171ALPK3c.1270C>A (p.Gln424Lys)
c.1876C>A (p.Gln626Lys)
15g.84840549C>GCA393375174ALPK3c.1270C>G (p.Gln424Glu)
c.1876C>G (p.Gln626Glu)
15g.84840549C>TCA393375177ALPK3c.1270C>T (p.Gln424Ter)
c.1876C>T (p.Gln626Ter)
15g.84840550A>CCA393375179ALPK3c.1271A>C (p.Gln424Pro)
c.1877A>C (p.Gln626Pro)
15g.84840550A>GCA393375183ALPK3c.1271A>G (p.Gln424Arg)
c.1877A>G (p.Gln626Arg)
gnomAD v4
15g.84840550A>TCA393375181ALPK3c.1271A>T (p.Gln424Leu)
c.1877A>T (p.Gln626Leu)
15g.84840551G>ACA492277363ALPK3c.1272G>A (p.Gln424=)
c.1878G>A (p.Gln626=)
15g.84840551G>CCA393375186ALPK3c.1272G>C (p.Gln424His)
c.1878G>C (p.Gln626His)
15g.84840551G>TCA393375188ALPK3c.1272G>T (p.Gln424His)
c.1878G>T (p.Gln626His)
15g.84840552G>ACA393375192ALPK3c.1273G>A (p.Ala425Thr)
c.1879G>A (p.Ala627Thr)
15g.84840552G>CCA393375194ALPK3c.1273G>C (p.Ala425Pro)
c.1879G>C (p.Ala627Pro)
15g.84840552G>TCA393375196ALPK3c.1273G>T (p.Ala425Ser)
c.1879G>T (p.Ala627Ser)
15g.84840553C>ACA393375199ALPK3c.1274C>A (p.Ala425Glu)
c.1880C>A (p.Ala627Glu)
gnomAD v4
15g.84840553C>GCA393375202ALPK3c.1274C>G (p.Ala425Gly)
c.1880C>G (p.Ala627Gly)
15g.84840553C>TCA393375205ALPK3c.1274C>T (p.Ala425Val)
c.1880C>T (p.Ala627Val)
15g.84840554A>CCA492277377ALPK3c.1275A>C (p.Ala425=)
c.1881A>C (p.Ala627=)
15g.84840554A>GCA492277379ALPK3c.1275A>G (p.Ala425=)
c.1881A>G (p.Ala627=)
ClinVar
15g.84840554A>TCA492277378ALPK3c.1275A>T (p.Ala425=)
c.1881A>T (p.Ala627=)
15g.84840555G>ACA393375212ALPK3c.1276G>A (p.Val426Ile)
c.1882G>A (p.Val628Ile)
15g.84840555G>CCA393375215ALPK3c.1276G>C (p.Val426Leu)
c.1882G>C (p.Val628Leu)
dbSNP
15g.84840555G=CA2192368385ALPK3c.1276G= (p.Val426=)
c.1882G= (p.Val628=)
15g.84840555G>TCA393375217ALPK3c.1276G>T (p.Val426Phe)
c.1882G>T (p.Val628Phe)
15g.84840556T>ACA393375221ALPK3c.1277T>A (p.Val426Asp)
c.1883T>A (p.Val628Asp)
15g.84840556T>CCA393375226ALPK3c.1277T>C (p.Val426Ala)
c.1883T>C (p.Val628Ala)
gnomAD v4
15g.84840556T>GCA393375223ALPK3c.1277T>G (p.Val426Gly)
c.1883T>G (p.Val628Gly)
15g.84840557C>ACA492277384ALPK3c.1278C>A (p.Val426=)
c.1884C>A (p.Val628=)
gnomAD v4
15g.84840557C>GCA492277385ALPK3c.1278C>G (p.Val426=)
c.1884C>G (p.Val628=)
15g.84840557C>TCA492277387ALPK3c.1278C>T (p.Val426=)
c.1884C>T (p.Val628=)
15g.84840558A=CA2192368386ALPK3c.1279A= (p.Arg427=)
c.1885A= (p.Arg629=)
15g.84840558A>CCA492277388ALPK3c.1279A>C (p.Arg427=)
c.1885A>C (p.Arg629=)
15g.84840558A>GCA393375229ALPK3c.1279A>G (p.Arg427Gly)
c.1885A>G (p.Arg629Gly)
dbSNP gnomAD v2 gnomAD v4
15g.84840558A>TCA7709157ALPK3c.1279A>T (p.Arg427Trp)
c.1885A>T (p.Arg629Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840559G>ACA393375236ALPK3c.1280G>A (p.Arg427Lys)
c.1886G>A (p.Arg629Lys)
15g.84840559G>CCA393375237ALPK3c.1280G>C (p.Arg427Thr)
c.1886G>C (p.Arg629Thr)
15g.84840559G>TCA393375239ALPK3c.1280G>T (p.Arg427Met)
c.1886G>T (p.Arg629Met)
15g.84840560G>ACA492277390ALPK3c.1281G>A (p.Arg427=)
c.1887G>A (p.Arg629=)
gnomAD v4
15g.84840560G>CCA393375242ALPK3c.1281G>C (p.Arg427Ser)
c.1887G>C (p.Arg629Ser)
15g.84840560G>TCA393375244ALPK3c.1281G>T (p.Arg427Ser)
c.1887G>T (p.Arg629Ser)
15g.84840561C>ACA393375247ALPK3c.1282C>A (p.Pro428Thr)
c.1888C>A (p.Pro630Thr)
gnomAD v4
15g.84840561C>GCA393375250ALPK3c.1282C>G (p.Pro428Ala)
c.1888C>G (p.Pro630Ala)
15g.84840561C>TCA393375251ALPK3c.1282C>T (p.Pro428Ser)
c.1888C>T (p.Pro630Ser)
15g.84840562C>ACA393375254ALPK3c.1283C>A (p.Pro428His)
c.1889C>A (p.Pro630His)
15g.84840562C>GCA393375256ALPK3c.1283C>G (p.Pro428Arg)
c.1889C>G (p.Pro630Arg)
15g.84840562C>TCA393375258ALPK3c.1283C>T (p.Pro428Leu)
c.1889C>T (p.Pro630Leu)
15g.84840563T>ACA492277397ALPK3c.1284T>A (p.Pro428=)
c.1890T>A (p.Pro630=)
15g.84840563T>CCA492277398ALPK3c.1284T>C (p.Pro428=)
c.1890T>C (p.Pro630=)
ClinVar
15g.84840563T>GCA492277399ALPK3c.1284T>G (p.Pro428=)
c.1890T>G (p.Pro630=)
15g.84840564C>ACA393375261ALPK3c.1285C>A (p.Leu429Ile)
c.1891C>A (p.Leu631Ile)
15g.84840564C=CA2192368387ALPK3c.1285C= (p.Leu429=)
c.1891C= (p.Leu631=)
15g.84840564C>GCA393375265ALPK3c.1285C>G (p.Leu429Val)
c.1891C>G (p.Leu631Val)
dbSNP gnomAD v4
15g.84840564C>TCA393375263ALPK3c.1285C>T (p.Leu429Phe)
c.1891C>T (p.Leu631Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.84840565T>ACA393375267ALPK3c.1286T>A (p.Leu429His)
c.1892T>A (p.Leu631His)
15g.84840565T>CCA7709158ALPK3c.1286T>C (p.Leu429Pro)
c.1892T>C (p.Leu631Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840565T>GCA393375272ALPK3c.1286T>G (p.Leu429Arg)
c.1892T>G (p.Leu631Arg)
15g.84840565T=CA2192368388ALPK3c.1286T= (p.Leu429=)
c.1892T= (p.Leu631=)
15g.84840566T>ACA492277402ALPK3c.1287T>A (p.Leu429=)
c.1893T>A (p.Leu631=)
15g.84840566T>CCA492277403ALPK3c.1287T>C (p.Leu429=)
c.1893T>C (p.Leu631=)
15g.84840566T>GCA492277404ALPK3c.1287T>G (p.Leu429=)
c.1893T>G (p.Leu631=)
15g.84840567G>ACA393375275ALPK3c.1288G>A (p.Gly430Arg)
c.1894G>A (p.Gly632Arg)
15g.84840567G>CCA393375276ALPK3c.1288G>C (p.Gly430Arg)
c.1894G>C (p.Gly632Arg)
15g.84840567G>TCA393375278ALPK3c.1288G>T (p.Gly430Trp)
c.1894G>T (p.Gly632Trp)
ClinVar dbSNP gnomAD v4
15g.84840570delCA2630109273ALPK3c.1291del (p.Glu431LysfsTer7)
c.1897del (p.Glu633LysfsTer7)
gnomAD v4
15g.84840568G>ACA393375280ALPK3c.1289G>A (p.Gly430Glu)
c.1895G>A (p.Gly632Glu)
gnomAD v4
15g.84840568G>CCA393375282ALPK3c.1289G>C (p.Gly430Ala)
c.1895G>C (p.Gly632Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.84840568G=CA2192368389ALPK3c.1289G= (p.Gly430=)
c.1895G= (p.Gly632=)
15g.84840568G>TCA393375284ALPK3c.1289G>T (p.Gly430Val)
c.1895G>T (p.Gly632Val)
15g.84840569G>ACA492277406ALPK3c.1290G>A (p.Gly430=)
c.1896G>A (p.Gly632=)
gnomAD v4
15g.84840569G>CCA492277407ALPK3c.1290G>C (p.Gly430=)
c.1896G>C (p.Gly632=)
15g.84840569G>TCA492277408ALPK3c.1290G>T (p.Gly430=)
c.1896G>T (p.Gly632=)
gnomAD v4
15g.84840570G>ACA393375289ALPK3c.1291G>A (p.Glu431Lys)
c.1897G>A (p.Glu633Lys)
gnomAD v4
15g.84840570G>CCA393375287ALPK3c.1291G>C (p.Glu431Gln)
c.1897G>C (p.Glu633Gln)
15g.84840570G>TCA393375286ALPK3c.1291G>T (p.Glu431Ter)
c.1897G>T (p.Glu633Ter)
15g.84840571A>CCA393375291ALPK3c.1292A>C (p.Glu431Ala)
c.1898A>C (p.Glu633Ala)
15g.84840571A>GCA393375295ALPK3c.1292A>G (p.Glu431Gly)
c.1898A>G (p.Glu633Gly)
15g.84840571A>TCA393375293ALPK3c.1292A>T (p.Glu431Val)
c.1898A>T (p.Glu633Val)
15g.84840572A>CCA393375297ALPK3c.1293A>C (p.Glu431Asp)
c.1899A>C (p.Glu633Asp)
15g.84840572A>GCA492277413ALPK3c.1293A>G (p.Glu431=)
c.1899A>G (p.Glu633=)
15g.84840572A>TCA393375298ALPK3c.1293A>T (p.Glu431Asp)
c.1899A>T (p.Glu633Asp)
15g.84840573G>ACA393375300ALPK3c.1294G>A (p.Glu432Lys)
c.1900G>A (p.Glu634Lys)
COSMIC COSMIC
15g.84840573G>CCA393375301ALPK3c.1294G>C (p.Glu432Gln)
c.1900G>C (p.Glu634Gln)
15g.84840573G>TCA393375303ALPK3c.1294G>T (p.Glu432Ter)
c.1900G>T (p.Glu634Ter)
15g.84840574A=CA2192368390ALPK3c.1295A= (p.Glu432=)
c.1901A= (p.Glu634=)
15g.84840574A>CCA393375305ALPK3c.1295A>C (p.Glu432Ala)
c.1901A>C (p.Glu634Ala)
15g.84840574A>GCA273666142ALPK3c.1295A>G (p.Glu432Gly)
c.1901A>G (p.Glu634Gly)
dbSNP
15g.84840574A>TCA393375307ALPK3c.1295A>T (p.Glu432Val)
c.1901A>T (p.Glu634Val)
15g.84840575G>ACA492277417ALPK3c.1296G>A (p.Glu432=)
c.1902G>A (p.Glu634=)
15g.84840575G>CCA273666151ALPK3c.1296G>C (p.Glu432Asp)
c.1902G>C (p.Glu634Asp)
dbSNP
15g.84840575G=CA2192368391ALPK3c.1296G= (p.Glu432=)
c.1902G= (p.Glu634=)
15g.84840575G>TCA393375310ALPK3c.1296G>T (p.Glu432Asp)
c.1902G>T (p.Glu634Asp)
gnomAD v4
15g.84840576G>ACA393375315ALPK3c.1297G>A (p.Gly433Arg)
c.1903G>A (p.Gly635Arg)
dbSNP gnomAD v2 gnomAD v4
15g.84840576G>CCA393375314ALPK3c.1297G>C (p.Gly433Arg)
c.1903G>C (p.Gly635Arg)
15g.84840576G=CA2192368392ALPK3c.1297G= (p.Gly433=)
c.1903G= (p.Gly635=)
15g.84840576G>TCA393375312ALPK3c.1297G>T (p.Gly433Ter)
c.1903G>T (p.Gly635Ter)
15g.84840577G>ACA393375317ALPK3c.1298G>A (p.Gly433Glu)
c.1904G>A (p.Gly635Glu)
gnomAD v4
15g.84840577G>CCA393375318ALPK3c.1298G>C (p.Gly433Ala)
c.1904G>C (p.Gly635Ala)
15g.84840577G>TCA393375320ALPK3c.1298G>T (p.Gly433Val)
c.1904G>T (p.Gly635Val)
15g.84840578A>CCA492277423ALPK3c.1299A>C (p.Gly433=)
c.1905A>C (p.Gly635=)
15g.84840578A>GCA492277424ALPK3c.1299A>G (p.Gly433=)
c.1905A>G (p.Gly635=)
gnomAD v4
15g.84840578A>TCA492277425ALPK3c.1299A>T (p.Gly433=)
c.1905A>T (p.Gly635=)
15g.84840579C>ACA393375322ALPK3c.1300C>A (p.Pro434Thr)
c.1906C>A (p.Pro636Thr)
gnomAD v4
15g.84840579C>GCA393375324ALPK3c.1300C>G (p.Pro434Ala)
c.1906C>G (p.Pro636Ala)
15g.84840579C>TCA393375325ALPK3c.1300C>T (p.Pro434Ser)
c.1906C>T (p.Pro636Ser)
15g.84840582delCA2630109274ALPK3c.1303del (p.Gln435ArgfsTer3)
c.1909del (p.Gln637ArgfsTer3)
gnomAD v4
15g.84840580C>ACA393375327ALPK3c.1301C>A (p.Pro434His)
c.1907C>A (p.Pro636His)
15g.84840580C>GCA393375328ALPK3c.1301C>G (p.Pro434Arg)
c.1907C>G (p.Pro636Arg)
15g.84840580C>TCA393375330ALPK3c.1301C>T (p.Pro434Leu)
c.1907C>T (p.Pro636Leu)
COSMIC COSMIC
15g.84840581C>ACA492277429ALPK3c.1302C>A (p.Pro434=)
c.1908C>A (p.Pro636=)
gnomAD v4
15g.84840581C>GCA492277431ALPK3c.1302C>G (p.Pro434=)
c.1908C>G (p.Pro636=)
15g.84840581C>TCA492277433ALPK3c.1302C>T (p.Pro434=)
c.1908C>T (p.Pro636=)
15g.84840582C>ACA7709159ALPK3c.1303C>A (p.Gln435Lys)
c.1909C>A (p.Gln637Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840582C=CA2192368393ALPK3c.1303C= (p.Gln435=)
c.1909C= (p.Gln637=)
15g.84840582C>GCA393375332ALPK3c.1303C>G (p.Gln435Glu)
c.1909C>G (p.Gln637Glu)
15g.84840582C>TCA393375333ALPK3c.1303C>T (p.Gln435Ter)
c.1909C>T (p.Gln637Ter)
15g.84840583A=CA2192368394ALPK3c.1304A= (p.Gln435=)
c.1910A= (p.Gln637=)
15g.84840583A>CCA393375337ALPK3c.1304A>C (p.Gln435Pro)
c.1910A>C (p.Gln637Pro)
15g.84840583A>GCA7709160ALPK3c.1304A>G (p.Gln435Arg)
c.1910A>G (p.Gln637Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840583A>TCA393375335ALPK3c.1304A>T (p.Gln435Leu)
c.1910A>T (p.Gln637Leu)
15g.84840584G>ACA492277438ALPK3c.1305G>A (p.Gln435=)
c.1911G>A (p.Gln637=)
15g.84840584G>CCA393375339ALPK3c.1305G>C (p.Gln435His)
c.1911G>C (p.Gln637His)
15g.84840584G>TCA393375341ALPK3c.1305G>T (p.Gln435His)
c.1911G>T (p.Gln637His)
gnomAD v4

Number of alleles fetched