Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.84840511_84840527delCA2739269633ALPK3c.1232_1248del (p.Val411GlyfsTer?)
c.1838_1854del (p.Val613GlyfsTer?)
 ClinVar
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
15g.84840585A>CCA393375342ALPK3c.1306A>C (p.Thr436Pro)
c.1912A>C (p.Thr638Pro)
15g.84840585A>GCA393375344ALPK3c.1306A>G (p.Thr436Ala)
c.1912A>G (p.Thr638Ala)
 gnomAD v4
15g.84840585A>TCA393375346ALPK3c.1306A>T (p.Thr436Ser)
c.1912A>T (p.Thr638Ser)
15g.84840586C>ACA393375348ALPK3c.1307C>A (p.Thr436Asn)
c.1913C>A (p.Thr638Asn)
 ClinVar gnomAD v4
15g.84840586C=CA2192368395ALPK3c.1307C= (p.Thr436=)
c.1913C= (p.Thr638=)
15g.84840586C>GCA393375350ALPK3c.1307C>G (p.Thr436Ser)
c.1913C>G (p.Thr638Ser)
15g.84840586C>TCA393375351ALPK3c.1307C>T (p.Thr436Ile)
c.1913C>T (p.Thr638Ile)
 dbSNP gnomAD v3 gnomAD v4
15g.84840587C>ACA492277444ALPK3c.1308C>A (p.Thr436=)
c.1914C>A (p.Thr638=)
15g.84840587C>GCA492277445ALPK3c.1308C>G (p.Thr436=)
c.1914C>G (p.Thr638=)
15g.84840587C>TCA492277446ALPK3c.1308C>T (p.Thr436=)
c.1914C>T (p.Thr638=)
 gnomAD v4
15g.84840588C>ACA393375353ALPK3c.1309C>A (p.Leu437Met)
c.1915C>A (p.Leu639Met)
15g.84840588C>GCA393375354ALPK3c.1309C>G (p.Leu437Val)
c.1915C>G (p.Leu639Val)
15g.84840588C>TCA492277448ALPK3c.1309C>T (p.Leu437=)
c.1915C>T (p.Leu639=)
 gnomAD v4
15g.84840589delCA2695221132ALPK3c.1310del (p.Leu437ArgfsTer?)
c.1916del (p.Leu639ArgfsTer?)
15g.84840589T>ACA393375356ALPK3c.1310T>A (p.Leu437Gln)
c.1916T>A (p.Leu639Gln)
15g.84840589T>CCA393375358ALPK3c.1310T>C (p.Leu437Pro)
c.1916T>C (p.Leu639Pro)
 gnomAD v4
15g.84840589T>GCA393375359ALPK3c.1310T>G (p.Leu437Arg)
c.1916T>G (p.Leu639Arg)
 gnomAD v4
15g.84840590G>ACA492277458ALPK3c.1311G>A (p.Leu437=)
c.1917G>A (p.Leu639=)
15g.84840590G>CCA492277461ALPK3c.1311G>C (p.Leu437=)
c.1917G>C (p.Leu639=)
15g.84840590G>TCA492277463ALPK3c.1311G>T (p.Leu437=)
c.1917G>T (p.Leu639=)
15g.84840591A>CCA393375364ALPK3c.1312A>C (p.Ser438Arg)
c.1918A>C (p.Ser640Arg)
15g.84840591A>GCA393375362ALPK3c.1312A>G (p.Ser438Gly)
c.1918A>G (p.Ser640Gly)
 gnomAD v4
15g.84840591A>TCA393375361ALPK3c.1312A>T (p.Ser438Cys)
c.1918A>T (p.Ser640Cys)
15g.84840592G>ACA393375366ALPK3c.1313G>A (p.Ser438Asn)
c.1919G>A (p.Ser640Asn)
 ClinVar dbSNP gnomAD v2
15g.84840592G>CCA393375367ALPK3c.1313G>C (p.Ser438Thr)
c.1919G>C (p.Ser640Thr)
15g.84840592G=CA2192368396ALPK3c.1313G= (p.Ser438=)
c.1919G= (p.Ser640=)
15g.84840592G>TCA393375368ALPK3c.1313G>T (p.Ser438Ile)
c.1919G>T (p.Ser640Ile)
15g.84840593_84840598delCA2575820492ALPK3c.1314_1319del (p.Ser438_Val439del)
c.1920_1925del (p.Ser640_Val641del)
 gnomAD v4
15g.84840593T>ACA393375369ALPK3c.1314T>A (p.Ser438Arg)
c.1920T>A (p.Ser640Arg)
 gnomAD v4
15g.84840593T>CCA492277474ALPK3c.1314T>C (p.Ser438=)
c.1920T>C (p.Ser640=)
15g.84840593T>GCA393375370ALPK3c.1314T>G (p.Ser438Arg)
c.1920T>G (p.Ser640Arg)
15g.84840594G>ACA393375371ALPK3c.1315G>A (p.Val439Ile)
c.1921G>A (p.Val641Ile)
 gnomAD v4
15g.84840594G>CCA393375372ALPK3c.1315G>C (p.Val439Leu)
c.1921G>C (p.Val641Leu)
15g.84840594G>TCA393375373ALPK3c.1315G>T (p.Val439Phe)
c.1921G>T (p.Val641Phe)
15g.84840595T>ACA393375374ALPK3c.1316T>A (p.Val439Asp)
c.1922T>A (p.Val641Asp)
15g.84840595T>CCA393375375ALPK3c.1316T>C (p.Val439Ala)
c.1922T>C (p.Val641Ala)
 ClinVar
15g.84840595T>GCA393375376ALPK3c.1316T>G (p.Val439Gly)
c.1922T>G (p.Val641Gly)
 gnomAD v4
15g.84840596C>ACA492277479ALPK3c.1317C>A (p.Val439=)
c.1923C>A (p.Val641=)
 dbSNP gnomAD v4
15g.84840596C=CA2192368398ALPK3c.1317C= (p.Val439=)
c.1923C= (p.Val641=)
15g.84840596C>GCA492277481ALPK3c.1317C>G (p.Val439=)
c.1923C>G (p.Val641=)
 gnomAD v4
15g.84840596C>TCA492277480ALPK3c.1317C>T (p.Val439=)
c.1923C>T (p.Val641=)
 ClinVar
15g.84840596_84840598delinsCCGCA2192368397ALPK3c.1317_1319delinsCCG (p.Val439=)
c.1923_1925delinsCCG (p.Val641=)
15g.84840597C>ACA492277483ALPK3c.1318C>A (p.Arg440=)
c.1924C>A (p.Arg642=)
 gnomAD v4
15g.84840597C=CA2192368399ALPK3c.1318C= (p.Arg440=)
c.1924C= (p.Arg642=)
15g.84840597C>GCA393375377ALPK3c.1318C>G (p.Arg440Gly)
c.1924C>G (p.Arg642Gly)
15g.84840597C>TCA7709161ALPK3c.1318C>T (p.Arg440Trp)
c.1924C>T (p.Arg642Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840597_84840598delCA716470248ALPK3c.1318_1319del (p.Arg440GlyfsTer15)
c.1924_1925del (p.Arg642GlyfsTer15)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.84840598G>ACA393375379ALPK3c.1319G>A (p.Arg440Gln)
c.1925G>A (p.Arg642Gln)
 ClinVar gnomAD v4 COSMIC COSMIC
15g.84840598G>CCA393375380ALPK3c.1319G>C (p.Arg440Pro)
c.1925G>C (p.Arg642Pro)
15g.84840598G>TCA393375378ALPK3c.1319G>T (p.Arg440Leu)
c.1925G>T (p.Arg642Leu)
 gnomAD v4
15g.84840599G>ACA492277489ALPK3c.1320G>A (p.Arg440=)
c.1926G>A (p.Arg642=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.84840599G>CCA492277491ALPK3c.1320G>C (p.Arg440=)
c.1926G>C (p.Arg642=)
15g.84840599G=CA2192368400ALPK3c.1320G= (p.Arg440=)
c.1926G= (p.Arg642=)
15g.84840599G>TCA273666172ALPK3c.1320G>T (p.Arg440=)
c.1926G>T (p.Arg642=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840600G>ACA393375382ALPK3c.1321G>A (p.Ala441Thr)
c.1927G>A (p.Ala643Thr)
15g.84840600G>CCA393375381ALPK3c.1321G>C (p.Ala441Pro)
c.1927G>C (p.Ala643Pro)
15g.84840600G>TCA393375383ALPK3c.1321G>T (p.Ala441Ser)
c.1927G>T (p.Ala643Ser)
15g.84840601C>ACA393375384ALPK3c.1322C>A (p.Ala441Glu)
c.1928C>A (p.Ala643Glu)
 gnomAD v4
15g.84840601C=CA2192368401ALPK3c.1322C= (p.Ala441=)
c.1928C= (p.Ala643=)
15g.84840601C>GCA393375385ALPK3c.1322C>G (p.Ala441Gly)
c.1928C>G (p.Ala643Gly)
15g.84840601C>TCA393375386ALPK3c.1322C>T (p.Ala441Val)
c.1928C>T (p.Ala643Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.84840602G>ACA7709162ALPK3c.1323G>A (p.Ala441=)
c.1929G>A (p.Ala643=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.84840602G>CCA492277499ALPK3c.1323G>C (p.Ala441=)
c.1929G>C (p.Ala643=)
15g.84840602G=CA2192368402ALPK3c.1323G= (p.Ala441=)
c.1929G= (p.Ala643=)
15g.84840602G>TCA492277500ALPK3c.1323G>T (p.Ala441=)
c.1929G>T (p.Ala643=)
 gnomAD v4
15g.84840603C>ACA393375387ALPK3c.1324C>A (p.Pro442Thr)
c.1930C>A (p.Pro644Thr)
15g.84840603C>GCA393375388ALPK3c.1324C>G (p.Pro442Ala)
c.1930C>G (p.Pro644Ala)
15g.84840603C>TCA393375389ALPK3c.1324C>T (p.Pro442Ser)
c.1930C>T (p.Pro644Ser)
15g.84840604C>ACA393375390ALPK3c.1325C>A (p.Pro442His)
c.1931C>A (p.Pro644His)
15g.84840604C>GCA393375391ALPK3c.1325C>G (p.Pro442Arg)
c.1931C>G (p.Pro644Arg)
15g.84840604C>TCA393375392ALPK3c.1325C>T (p.Pro442Leu)
c.1931C>T (p.Pro644Leu)
15g.84840605T>ACA492277510ALPK3c.1326T>A (p.Pro442=)
c.1932T>A (p.Pro644=)
15g.84840605T>CCA492277509ALPK3c.1326T>C (p.Pro442=)
c.1932T>C (p.Pro644=)
 gnomAD v4
15g.84840605T>GCA492277507ALPK3c.1326T>G (p.Pro442=)
c.1932T>G (p.Pro644=)
15g.84840606G>ACA393375395ALPK3c.1327G>A (p.Gly443Arg)
c.1933G>A (p.Gly645Arg)
15g.84840606G>CCA393375394ALPK3c.1327G>C (p.Gly443Arg)
c.1933G>C (p.Gly645Arg)
15g.84840606G>TCA393375393ALPK3c.1327G>T (p.Gly443Trp)
c.1933G>T (p.Gly645Trp)
15g.84840608_84840609delCA2630109275ALPK3c.1329_1330del (p.Pro446GlnfsTer9)
c.1935_1936del (p.Pro648GlnfsTer9)
 gnomAD v4
15g.84840607G>ACA393375396ALPK3c.1328G>A (p.Gly443Glu)
c.1934G>A (p.Gly645Glu)
15g.84840607G>CCA393375397ALPK3c.1328G>C (p.Gly443Ala)
c.1934G>C (p.Gly645Ala)
15g.84840607G>TCA393375398ALPK3c.1328G>T (p.Gly443Val)
c.1934G>T (p.Gly645Val)
15g.84840608G>ACA7709163ALPK3c.1329G>A (p.Gly443=)
c.1935G>A (p.Gly645=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840608G>CCA492277514ALPK3c.1329G>C (p.Gly443=)
c.1935G>C (p.Gly645=)
 dbSNP
15g.84840608G=CA2192368403ALPK3c.1329G= (p.Gly443=)
c.1935G= (p.Gly645=)
15g.84840608G>TCA492277515ALPK3c.1329G>T (p.Gly443=)
c.1935G>T (p.Gly645=)
 ClinVar dbSNP gnomAD v4
15g.84840609G>ACA393375399ALPK3c.1330G>A (p.Glu444Lys)
c.1936G>A (p.Glu646Lys)
15g.84840609G>CCA393375400ALPK3c.1330G>C (p.Glu444Gln)
c.1936G>C (p.Glu646Gln)
15g.84840609G>TCA393375401ALPK3c.1330G>T (p.Glu444Ter)
c.1936G>T (p.Glu646Ter)
 gnomAD v4
15g.84840610A>CCA393375402ALPK3c.1331A>C (p.Glu444Ala)
c.1937A>C (p.Glu646Ala)
 gnomAD v4
15g.84840610A>GCA393375403ALPK3c.1331A>G (p.Glu444Gly)
c.1937A>G (p.Glu646Gly)
15g.84840610A>TCA393375404ALPK3c.1331A>T (p.Glu444Val)
c.1937A>T (p.Glu646Val)
15g.84840611G>ACA492277521ALPK3c.1332G>A (p.Glu444=)
c.1938G>A (p.Glu646=)
15g.84840611G>CCA393375405ALPK3c.1332G>C (p.Glu444Asp)
c.1938G>C (p.Glu646Asp)
15g.84840611G>TCA393375406ALPK3c.1332G>T (p.Glu444Asp)
c.1938G>T (p.Glu646Asp)
15g.84840611_84840616delCA2575820493ALPK3c.1332_1337del (p.Glu444_Pro446delinsAsp)
c.1938_1943del (p.Glu646_Pro648delinsAsp)
15g.84840612A>CCA393375408ALPK3c.1333A>C (p.Ser445Arg)
c.1939A>C (p.Ser647Arg)
15g.84840612A>GCA393375409ALPK3c.1333A>G (p.Ser445Gly)
c.1939A>G (p.Ser647Gly)
 gnomAD v4
15g.84840612A>TCA393375407ALPK3c.1333A>T (p.Ser445Cys)
c.1939A>T (p.Ser647Cys)
15g.84840613G>ACA393375410ALPK3c.1334G>A (p.Ser445Asn)
c.1940G>A (p.Ser647Asn)
 ClinVar
15g.84840613G>CCA393375411ALPK3c.1334G>C (p.Ser445Thr)
c.1940G>C (p.Ser647Thr)
15g.84840613G>TCA393375412ALPK3c.1334G>T (p.Ser445Ile)
c.1940G>T (p.Ser647Ile)
 dbSNP
15g.84840613_84840616delCA2630109276ALPK3c.1334_1337del (p.Ser445ThrfsTer25)
c.1940_1943del (p.Ser647ThrfsTer25)
 gnomAD v4
15g.84840614T>ACA393375413ALPK3c.1335T>A (p.Ser445Arg)
c.1941T>A (p.Ser647Arg)
15g.84840614T>CCA492277525ALPK3c.1335T>C (p.Ser445=)
c.1941T>C (p.Ser647=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840614T>GCA393375414ALPK3c.1335T>G (p.Ser445Arg)
c.1941T>G (p.Ser647Arg)
15g.84840614T=CA2192368404ALPK3c.1335T= (p.Ser445=)
c.1941T= (p.Ser647=)
15g.84840615C>ACA7709164ALPK3c.1336C>A (p.Pro446Thr)
c.1942C>A (p.Pro648Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840615C=CA2192368405ALPK3c.1336C= (p.Pro446=)
c.1942C= (p.Pro648=)
15g.84840615C>GCA393375415ALPK3c.1336C>G (p.Pro446Ala)
c.1942C>G (p.Pro648Ala)
 gnomAD v4
15g.84840615C>TCA7709165ALPK3c.1336C>T (p.Pro446Ser)
c.1942C>T (p.Pro648Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840616C>ACA393375416ALPK3c.1337C>A (p.Pro446His)
c.1943C>A (p.Pro648His)
15g.84840616C>GCA393375417ALPK3c.1337C>G (p.Pro446Arg)
c.1943C>G (p.Pro648Arg)
15g.84840616C>TCA393375418ALPK3c.1337C>T (p.Pro446Leu)
c.1943C>T (p.Pro648Leu)
15g.84840617C>ACA492277533ALPK3c.1338C>A (p.Pro446=)
c.1944C>A (p.Pro648=)
 gnomAD v4
15g.84840617C>GCA492277535ALPK3c.1338C>G (p.Pro446=)
c.1944C>G (p.Pro648=)
15g.84840617C>TCA492277536ALPK3c.1338C>T (p.Pro446=)
c.1944C>T (p.Pro648=)

Number of alleles fetched