Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.84840454_84840456delCA2192368346ALPK3c.1175_1177del (p.Ala392del)
c.1781_1783del (p.Ala594del)
 dbSNP
15g.84840454C>ACA393374690ALPK3c.1175C>A (p.Ala392Asp)
c.1781C>A (p.Ala594Asp)
15g.84840454C=CA2192368348ALPK3c.1175C= (p.Ala392=)
c.1781C= (p.Ala594=)
15g.84840454C>GCA393374689ALPK3c.1175C>G (p.Ala392Gly)
c.1781C>G (p.Ala594Gly)
15g.84840454C>TCA7709136ALPK3c.1175C>T (p.Ala392Val)
c.1781C>T (p.Ala594Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840455T>ACA492277879ALPK3c.1176T>A (p.Ala392=)
c.1782T>A (p.Ala594=)
15g.84840455T>CCA492277880ALPK3c.1176T>C (p.Ala392=)
c.1782T>C (p.Ala594=)
15g.84840455T>GCA492277881ALPK3c.1176T>G (p.Ala392=)
c.1782T>G (p.Ala594=)
15g.84840455dupCA2575820490ALPK3c.1176dup (p.Val393CysfsTer?)
c.1782dup (p.Val595CysfsTer?)
15g.84840456G>ACA393374691ALPK3c.1177G>A (p.Val393Met)
c.1783G>A (p.Val595Met)
15g.84840456G>CCA393374692ALPK3c.1177G>C (p.Val393Leu)
c.1783G>C (p.Val595Leu)
 ClinVar
15g.84840456G>TCA393374693ALPK3c.1177G>T (p.Val393Leu)
c.1783G>T (p.Val595Leu)
15g.84840457T>ACA393374694ALPK3c.1178T>A (p.Val393Glu)
c.1784T>A (p.Val595Glu)
15g.84840457T>CCA393374695ALPK3c.1178T>C (p.Val393Ala)
c.1784T>C (p.Val595Ala)
15g.84840457T>GCA393374696ALPK3c.1178T>G (p.Val393Gly)
c.1784T>G (p.Val595Gly)
 dbSNP gnomAD v2 gnomAD v4
15g.84840457T=CA2192368349ALPK3c.1178T= (p.Val393=)
c.1784T= (p.Val595=)
15g.84840458G>ACA492277247ALPK3c.1179G>A (p.Val393=)
c.1785G>A (p.Val595=)
15g.84840458G>CCA492277248ALPK3c.1179G>C (p.Val393=)
c.1785G>C (p.Val595=)
15g.84840458G>TCA492277249ALPK3c.1179G>T (p.Val393=)
c.1785G>T (p.Val595=)
15g.84840459G>ACA393374697ALPK3c.1180G>A (p.Gly394Ser)
c.1786G>A (p.Gly596Ser)
 gnomAD v4
15g.84840459G>CCA393374698ALPK3c.1180G>C (p.Gly394Arg)
c.1786G>C (p.Gly596Arg)
15g.84840459G>TCA393374699ALPK3c.1180G>T (p.Gly394Cys)
c.1786G>T (p.Gly596Cys)
15g.84840460G>ACA393374700ALPK3c.1181G>A (p.Gly394Asp)
c.1787G>A (p.Gly596Asp)
 dbSNP gnomAD v2
15g.84840460G>CCA393374701ALPK3c.1181G>C (p.Gly394Ala)
c.1787G>C (p.Gly596Ala)
15g.84840460G=CA2192368350ALPK3c.1181G= (p.Gly394=)
c.1787G= (p.Gly596=)
15g.84840460G>TCA393374702ALPK3c.1181G>T (p.Gly394Val)
c.1787G>T (p.Gly596Val)
15g.84840461C>ACA492277252ALPK3c.1182C>A (p.Gly394=)
c.1788C>A (p.Gly596=)
15g.84840461C>GCA492277251ALPK3c.1182C>G (p.Gly394=)
c.1788C>G (p.Gly596=)
15g.84840461C>TCA492277250ALPK3c.1182C>T (p.Gly394=)
c.1788C>T (p.Gly596=)
15g.84840462A=CA2192368351ALPK3c.1183A= (p.Thr395=)
c.1789A= (p.Thr597=)
15g.84840462A>CCA393374704ALPK3c.1183A>C (p.Thr395Pro)
c.1789A>C (p.Thr597Pro)
15g.84840462A>GCA393374705ALPK3c.1183A>G (p.Thr395Ala)
c.1789A>G (p.Thr597Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840462A>TCA393374703ALPK3c.1183A>T (p.Thr395Ser)
c.1789A>T (p.Thr597Ser)
15g.84840463C>ACA393374708ALPK3c.1184C>A (p.Thr395Asn)
c.1790C>A (p.Thr597Asn)
15g.84840463C>GCA393374706ALPK3c.1184C>G (p.Thr395Ser)
c.1790C>G (p.Thr597Ser)
15g.84840463C>TCA393374707ALPK3c.1184C>T (p.Thr395Ile)
c.1790C>T (p.Thr597Ile)
15g.84840464T>ACA492277253ALPK3c.1185T>A (p.Thr395=)
c.1791T>A (p.Thr597=)
15g.84840464T>CCA492277254ALPK3c.1185T>C (p.Thr395=)
c.1791T>C (p.Thr597=)
15g.84840464T>GCA492277255ALPK3c.1185T>G (p.Thr395=)
c.1791T>G (p.Thr597=)
15g.84840465C>ACA393374709ALPK3c.1186C>A (p.Pro396Thr)
c.1792C>A (p.Pro598Thr)
 gnomAD v4
15g.84840465C>GCA393374710ALPK3c.1186C>G (p.Pro396Ala)
c.1792C>G (p.Pro598Ala)
 ClinVar gnomAD v4
15g.84840465C>TCA393374711ALPK3c.1186C>T (p.Pro396Ser)
c.1792C>T (p.Pro598Ser)
 ClinVar
15g.84840466C>ACA393374712ALPK3c.1187C>A (p.Pro396Gln)
c.1793C>A (p.Pro598Gln)
15g.84840466C>GCA393374713ALPK3c.1187C>G (p.Pro396Arg)
c.1793C>G (p.Pro598Arg)
15g.84840466C>TCA393374714ALPK3c.1187C>T (p.Pro396Leu)
c.1793C>T (p.Pro598Leu)
15g.84840467A>CCA492277258ALPK3c.1188A>C (p.Pro396=)
c.1794A>C (p.Pro598=)
15g.84840467A>GCA492277257ALPK3c.1188A>G (p.Pro396=)
c.1794A>G (p.Pro598=)
 gnomAD v4
15g.84840467A>TCA492277256ALPK3c.1188A>T (p.Pro396=)
c.1794A>T (p.Pro598=)
15g.84840468G>ACA393374715ALPK3c.1189G>A (p.Asp397Asn)
c.1795G>A (p.Asp599Asn)
15g.84840468G>CCA7709137ALPK3c.1189G>C (p.Asp397His)
c.1795G>C (p.Asp599His)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840468G=CA2192368352ALPK3c.1189G= (p.Asp397=)
c.1795G= (p.Asp599=)
15g.84840468G>TCA393374716ALPK3c.1189G>T (p.Asp397Tyr)
c.1795G>T (p.Asp599Tyr)
15g.84840469A>CCA393374725ALPK3c.1190A>C (p.Asp397Ala)
c.1796A>C (p.Asp599Ala)
15g.84840469A>GCA393374723ALPK3c.1190A>G (p.Asp397Gly)
c.1796A>G (p.Asp599Gly)
15g.84840469A>TCA393374717ALPK3c.1190A>T (p.Asp397Val)
c.1796A>T (p.Asp599Val)
15g.84840470C>ACA393374727ALPK3c.1191C>A (p.Asp397Glu)
c.1797C>A (p.Asp599Glu)
15g.84840470C>GCA393374729ALPK3c.1191C>G (p.Asp397Glu)
c.1797C>G (p.Asp599Glu)
15g.84840470C>TCA492277259ALPK3c.1191C>T (p.Asp397=)
c.1797C>T (p.Asp599=)
15g.84840471A>CCA393374731ALPK3c.1192A>C (p.Lys398Gln)
c.1798A>C (p.Lys600Gln)
15g.84840471A>GCA393374732ALPK3c.1192A>G (p.Lys398Glu)
c.1798A>G (p.Lys600Glu)
 ClinVar
15g.84840471A>TCA393374734ALPK3c.1192A>T (p.Lys398Ter)
c.1798A>T (p.Lys600Ter)
15g.84840472A>CCA393374736ALPK3c.1193A>C (p.Lys398Thr)
c.1799A>C (p.Lys600Thr)
15g.84840472A>GCA393374741ALPK3c.1193A>G (p.Lys398Arg)
c.1799A>G (p.Lys600Arg)
15g.84840472A>TCA393374743ALPK3c.1193A>T (p.Lys398Met)
c.1799A>T (p.Lys600Met)
15g.84840473G>ACA492277260ALPK3c.1194G>A (p.Lys398=)
c.1800G>A (p.Lys600=)
15g.84840473G>CCA393374745ALPK3c.1194G>C (p.Lys398Asn)
c.1800G>C (p.Lys600Asn)
15g.84840473G>TCA393374747ALPK3c.1194G>T (p.Lys398Asn)
c.1800G>T (p.Lys600Asn)
15g.84840474G>ACA393374749ALPK3c.1195G>A (p.Ala399Thr)
c.1801G>A (p.Ala601Thr)
 gnomAD v4
15g.84840474G>CCA393374751ALPK3c.1195G>C (p.Ala399Pro)
c.1801G>C (p.Ala601Pro)
15g.84840474G>TCA393374753ALPK3c.1195G>T (p.Ala399Ser)
c.1801G>T (p.Ala601Ser)
15g.84840475C>ACA393374756ALPK3c.1196C>A (p.Ala399Asp)
c.1802C>A (p.Ala601Asp)
15g.84840475C>GCA393374759ALPK3c.1196C>G (p.Ala399Gly)
c.1802C>G (p.Ala601Gly)
15g.84840475C>TCA393374755ALPK3c.1196C>T (p.Ala399Val)
c.1802C>T (p.Ala601Val)
15g.84840476C>ACA492277261ALPK3c.1197C>A (p.Ala399=)
c.1803C>A (p.Ala601=)
15g.84840476C>GCA492277262ALPK3c.1197C>G (p.Ala399=)
c.1803C>G (p.Ala601=)
15g.84840476C>TCA492277263ALPK3c.1197C>T (p.Ala399=)
c.1803C>T (p.Ala601=)
15g.84840477C>ACA393374760ALPK3c.1198C>A (p.Gln400Lys)
c.1804C>A (p.Gln602Lys)
15g.84840477C>GCA393374761ALPK3c.1198C>G (p.Gln400Glu)
c.1804C>G (p.Gln602Glu)
15g.84840477C>TCA393374763ALPK3c.1198C>T (p.Gln400Ter)
c.1804C>T (p.Gln602Ter)
15g.84840478A=CA2192368353ALPK3c.1199A= (p.Gln400=)
c.1805A= (p.Gln602=)
15g.84840478A>CCA393374765ALPK3c.1199A>C (p.Gln400Pro)
c.1805A>C (p.Gln602Pro)
15g.84840478A>GCA7709138ALPK3c.1199A>G (p.Gln400Arg)
c.1805A>G (p.Gln602Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840478A>TCA393374767ALPK3c.1199A>T (p.Gln400Leu)
c.1805A>T (p.Gln602Leu)
15g.84840479G>ACA492277264ALPK3c.1200G>A (p.Gln400=)
c.1806G>A (p.Gln602=)
15g.84840479G>CCA393374768ALPK3c.1200G>C (p.Gln400His)
c.1806G>C (p.Gln602His)
 gnomAD v4
15g.84840479G>TCA393374770ALPK3c.1200G>T (p.Gln400His)
c.1806G>T (p.Gln602His)
15g.84840480A=CA2192368354ALPK3c.1201A= (p.Lys401=)
c.1807A= (p.Lys603=)
15g.84840480A>CCA393374772ALPK3c.1201A>C (p.Lys401Gln)
c.1807A>C (p.Lys603Gln)
15g.84840480A>GCA393374774ALPK3c.1201A>G (p.Lys401Glu)
c.1807A>G (p.Lys603Glu)
 dbSNP gnomAD v3 gnomAD v4
15g.84840480A>TCA393374775ALPK3c.1201A>T (p.Lys401Ter)
c.1807A>T (p.Lys603Ter)
15g.84840481A>CCA393374776ALPK3c.1202A>C (p.Lys401Thr)
c.1808A>C (p.Lys603Thr)
15g.84840481A>GCA393374778ALPK3c.1202A>G (p.Lys401Arg)
c.1808A>G (p.Lys603Arg)
15g.84840481A>TCA393374780ALPK3c.1202A>T (p.Lys401Met)
c.1808A>T (p.Lys603Met)
15g.84840482G>ACA492277265ALPK3c.1203G>A (p.Lys401=)
c.1809G>A (p.Lys603=)
15g.84840482G>CCA393374786ALPK3c.1203G>C (p.Lys401Asn)
c.1809G>C (p.Lys603Asn)
15g.84840482G>TCA393374787ALPK3c.1203G>T (p.Lys401Asn)
c.1809G>T (p.Lys603Asn)
15g.84840483delCA2575820491ALPK3c.1204del (p.Ala402ProfsTer14)
c.1810del (p.Ala604ProfsTer14)
 ClinVar gnomAD v4
15g.84840483G>ACA393374789ALPK3c.1204G>A (p.Ala402Thr)
c.1810G>A (p.Ala604Thr)
15g.84840483G>CCA393374790ALPK3c.1204G>C (p.Ala402Pro)
c.1810G>C (p.Ala604Pro)
 gnomAD v4
15g.84840483G>TCA393374792ALPK3c.1204G>T (p.Ala402Ser)
c.1810G>T (p.Ala604Ser)
 ClinVar COSMIC COSMIC
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=)

Number of alleles fetched