Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
15g.84840618A>CCA393375419ALPK3c.1339A>C (p.Lys447Gln)
c.1945A>C (p.Lys649Gln)
15g.84840618A>GCA393375420ALPK3c.1339A>G (p.Lys447Glu)
c.1945A>G (p.Lys649Glu)
gnomAD v4
15g.84840618A>TCA393375421ALPK3c.1339A>T (p.Lys447Ter)
c.1945A>T (p.Lys649Ter)
15g.84840619A>CCA393375422ALPK3c.1340A>C (p.Lys447Thr)
c.1946A>C (p.Lys649Thr)
15g.84840619A>GCA393375424ALPK3c.1340A>G (p.Lys447Arg)
c.1946A>G (p.Lys649Arg)
gnomAD v4
15g.84840619A>TCA393375423ALPK3c.1340A>T (p.Lys447Met)
c.1946A>T (p.Lys649Met)
15g.84840620G>ACA7709166ALPK3c.1341G>A (p.Lys447=)
c.1947G>A (p.Lys649=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.84840620G>CCA393375425ALPK3c.1341G>C (p.Lys447Asn)
c.1947G>C (p.Lys649Asn)
15g.84840620G=CA2192368406ALPK3c.1341G= (p.Lys447=)
c.1947G= (p.Lys649=)
15g.84840620G>TCA393375426ALPK3c.1341G>T (p.Lys447Asn)
c.1947G>T (p.Lys649Asn)
gnomAD v4
15g.84840621G>ACA7709167ALPK3c.1342G>A (p.Gly448Arg)
c.1948G>A (p.Gly650Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840621G>CCA393375427ALPK3c.1342G>C (p.Gly448Arg)
c.1948G>C (p.Gly650Arg)
15g.84840621G=CA2192368407ALPK3c.1342G= (p.Gly448=)
c.1948G= (p.Gly650=)
15g.84840621G>TCA393375428ALPK3c.1342G>T (p.Gly448Trp)
c.1948G>T (p.Gly650Trp)
15g.84840622G>ACA393375429ALPK3c.1343G>A (p.Gly448Glu)
c.1949G>A (p.Gly650Glu)
15g.84840622G>CCA393375430ALPK3c.1343G>C (p.Gly448Ala)
c.1949G>C (p.Gly650Ala)
gnomAD v4
15g.84840622G>TCA393375431ALPK3c.1343G>T (p.Gly448Val)
c.1949G>T (p.Gly650Val)
15g.84840623G>ACA492277547ALPK3c.1344G>A (p.Gly448=)
c.1950G>A (p.Gly650=)
ClinVar gnomAD v4
15g.84840623G>CCA492277548ALPK3c.1344G>C (p.Gly448=)
c.1950G>C (p.Gly650=)
15g.84840623G=CA2192368408ALPK3c.1344G= (p.Gly448=)
c.1950G= (p.Gly650=)
15g.84840623G>TCA492277549ALPK3c.1344G>T (p.Gly448=)
c.1950G>T (p.Gly650=)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.84840624A>CCA393375432ALPK3c.1345A>C (p.Lys449Gln)
c.1951A>C (p.Lys651Gln)
15g.84840624A>GCA393375433ALPK3c.1345A>G (p.Lys449Glu)
c.1951A>G (p.Lys651Glu)
15g.84840624A>TCA393375434ALPK3c.1345A>T (p.Lys449Ter)
c.1951A>T (p.Lys651Ter)
15g.84840625A=CA2192368409ALPK3c.1346A= (p.Lys449=)
c.1952A= (p.Lys651=)
15g.84840625A>CCA393375436ALPK3c.1346A>C (p.Lys449Thr)
c.1952A>C (p.Lys651Thr)
15g.84840625A>GCA393375437ALPK3c.1346A>G (p.Lys449Arg)
c.1952A>G (p.Lys651Arg)
dbSNP
15g.84840625A>TCA393375435ALPK3c.1346A>T (p.Lys449Met)
c.1952A>T (p.Lys651Met)
15g.84840626G>ACA492277553ALPK3c.1347G>A (p.Lys449=)
c.1953G>A (p.Lys651=)
15g.84840626G>CCA393375439ALPK3c.1347G>C (p.Lys449Asn)
c.1953G>C (p.Lys651Asn)
15g.84840626G>TCA393375438ALPK3c.1347G>T (p.Lys449Asn)
c.1953G>T (p.Lys651Asn)
gnomAD v4
15g.84840627G>ACA393375440ALPK3c.1348G>A (p.Ala450Thr)
c.1954G>A (p.Ala652Thr)
ClinVar gnomAD v4
15g.84840627G>CCA393375441ALPK3c.1348G>C (p.Ala450Pro)
c.1954G>C (p.Ala652Pro)
15g.84840627G>TCA393375442ALPK3c.1348G>T (p.Ala450Ser)
c.1954G>T (p.Ala652Ser)
15g.84840628C>ACA393375443ALPK3c.1349C>A (p.Ala450Glu)
c.1955C>A (p.Ala652Glu)
dbSNP gnomAD v4
15g.84840628C=CA2192368410ALPK3c.1349C= (p.Ala450=)
c.1955C= (p.Ala652=)
15g.84840628C>GCA393375444ALPK3c.1349C>G (p.Ala450Gly)
c.1955C>G (p.Ala652Gly)
15g.84840628C>TCA393375445ALPK3c.1349C>T (p.Ala450Val)
c.1955C>T (p.Ala652Val)
gnomAD v4
15g.84840629A=CA2192368411ALPK3c.1350A= (p.Ala450=)
c.1956A= (p.Ala652=)
15g.84840629A>CCA492277559ALPK3c.1350A>C (p.Ala450=)
c.1956A>C (p.Ala652=)
15g.84840629A>GCA492277560ALPK3c.1350A>G (p.Ala450=)
c.1956A>G (p.Ala652=)
15g.84840629A>TCA7709168ALPK3c.1350A>T (p.Ala450=)
c.1956A>T (p.Ala652=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840630C>ACA393375446ALPK3c.1351C>A (p.Pro451Thr)
c.1957C>A (p.Pro653Thr)
gnomAD v4
15g.84840630C=CA2192368412ALPK3c.1351C= (p.Pro451=)
c.1957C= (p.Pro653=)
15g.84840630C>GCA393375447ALPK3c.1351C>G (p.Pro451Ala)
c.1957C>G (p.Pro653Ala)
15g.84840630C>TCA7709169ALPK3c.1351C>T (p.Pro451Ser)
c.1957C>T (p.Pro653Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840631C>ACA393375448ALPK3c.1352C>A (p.Pro451His)
c.1958C>A (p.Pro653His)
gnomAD v4
15g.84840631C=CA2192368413ALPK3c.1352C= (p.Pro451=)
c.1958C= (p.Pro653=)
15g.84840631C>GCA393375449ALPK3c.1352C>G (p.Pro451Arg)
c.1958C>G (p.Pro653Arg)
dbSNP gnomAD v2 gnomAD v4
15g.84840631C>TCA393375450ALPK3c.1352C>T (p.Pro451Leu)
c.1958C>T (p.Pro653Leu)
ClinVar dbSNP
15g.84840632C>ACA492277563ALPK3c.1353C>A (p.Pro451=)
c.1959C>A (p.Pro653=)
ClinVar gnomAD v4
15g.84840632C=CA2192368414ALPK3c.1353C= (p.Pro451=)
c.1959C= (p.Pro653=)
15g.84840632C>GCA492277564ALPK3c.1353C>G (p.Pro451=)
c.1959C>G (p.Pro653=)
15g.84840632C>TCA7709170ALPK3c.1353C>T (p.Pro451=)
c.1959C>T (p.Pro653=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840633C>ACA393375451ALPK3c.1354C>A (p.Leu452Ile)
c.1960C>A (p.Leu654Ile)
gnomAD v4
15g.84840633C>GCA393375453ALPK3c.1354C>G (p.Leu452Val)
c.1960C>G (p.Leu654Val)
15g.84840633C>TCA393375452ALPK3c.1354C>T (p.Leu452Phe)
c.1960C>T (p.Leu654Phe)
15g.84840634T>ACA393375454ALPK3c.1355T>A (p.Leu452His)
c.1961T>A (p.Leu654His)
15g.84840634T>CCA393375455ALPK3c.1355T>C (p.Leu452Pro)
c.1961T>C (p.Leu654Pro)
15g.84840634T>GCA393375456ALPK3c.1355T>G (p.Leu452Arg)
c.1961T>G (p.Leu654Arg)
15g.84840635C>ACA273666291ALPK3c.1356C>A (p.Leu452=)
c.1962C>A (p.Leu654=)
dbSNP
15g.84840635C=CA2192368415ALPK3c.1356C= (p.Leu452=)
c.1962C= (p.Leu654=)
15g.84840635C>GCA492277572ALPK3c.1356C>G (p.Leu452=)
c.1962C>G (p.Leu654=)
15g.84840635C>TCA492277573ALPK3c.1356C>T (p.Leu452=)
c.1962C>T (p.Leu654=)
15g.84840636A>CCA492277574ALPK3c.1357A>C (p.Arg453=)
c.1963A>C (p.Arg655=)
gnomAD v4
15g.84840636A>GCA393375457ALPK3c.1357A>G (p.Arg453Gly)
c.1963A>G (p.Arg655Gly)
15g.84840636A>TCA393375458ALPK3c.1357A>T (p.Arg453Trp)
c.1963A>T (p.Arg655Trp)
15g.84840636_84840637insTTTTTTAATCA972230716ALPK3c.1357_1358insTTTTTTAAT (p.Arg453IlefsTer3)
c.1963_1964insTTTTTTAAT (p.Arg655IlefsTer3)
gnomAD v3 gnomAD v4
15g.84840637G>ACA393375459ALPK3c.1358G>A (p.Arg453Lys)
c.1964G>A (p.Arg655Lys)
COSMIC COSMIC
15g.84840637G>CCA393375460ALPK3c.1358G>C (p.Arg453Thr)
c.1964G>C (p.Arg655Thr)
15g.84840637G>TCA393375461ALPK3c.1358G>T (p.Arg453Met)
c.1964G>T (p.Arg655Met)
15g.84840639delCA2630109277ALPK3c.1360del (p.Ala454LeufsTer17)
c.1966del (p.Ala656LeufsTer17)
gnomAD v4
15g.84840637_84840638insATACCA972230718ALPK3c.1358_1359insATAC (p.Ala454TyrfsTer3)
c.1964_1965insATAC (p.Ala656TyrfsTer3)
gnomAD v3 gnomAD v4
15g.84840638G>ACA492277581ALPK3c.1359G>A (p.Arg453=)
c.1965G>A (p.Arg655=)
15g.84840638G>CCA393375462ALPK3c.1359G>C (p.Arg453Ser)
c.1965G>C (p.Arg655Ser)
15g.84840638G>TCA393375463ALPK3c.1359G>T (p.Arg453Ser)
c.1965G>T (p.Arg655Ser)
15g.84840639G>ACA393375466ALPK3c.1360G>A (p.Ala454Thr)
c.1966G>A (p.Ala656Thr)
gnomAD v4
15g.84840639G>CCA393375465ALPK3c.1360G>C (p.Ala454Pro)
c.1966G>C (p.Ala656Pro)
15g.84840639G>TCA393375464ALPK3c.1360G>T (p.Ala454Ser)
c.1966G>T (p.Ala656Ser)
ClinVar dbSNP
15g.84840640C>ACA393375467ALPK3c.1361C>A (p.Ala454Asp)
c.1967C>A (p.Ala656Asp)
15g.84840640C=CA2192368416ALPK3c.1361C= (p.Ala454=)
c.1967C= (p.Ala656=)
15g.84840640C>GCA393375468ALPK3c.1361C>G (p.Ala454Gly)
c.1967C>G (p.Ala656Gly)
dbSNP
15g.84840640C>TCA393375469ALPK3c.1361C>T (p.Ala454Val)
c.1967C>T (p.Ala656Val)
15g.84840641T>ACA492277593ALPK3c.1362T>A (p.Ala454=)
c.1968T>A (p.Ala656=)
15g.84840641T>CCA492277591ALPK3c.1362T>C (p.Ala454=)
c.1968T>C (p.Ala656=)
15g.84840641T>GCA492277589ALPK3c.1362T>G (p.Ala454=)
c.1968T>G (p.Ala656=)
15g.84840641_84840642delCA972230722ALPK3c.1362_1363del (p.Arg455LysfsTer21)
c.1968_1969del (p.Arg657LysfsTer21)
gnomAD v3 gnomAD v4
15g.84840642A>CCA492277594ALPK3c.1363A>C (p.Arg455=)
c.1969A>C (p.Arg657=)
15g.84840642A>GCA393375470ALPK3c.1363A>G (p.Arg455Gly)
c.1969A>G (p.Arg657Gly)
15g.84840642A>TCA393375471ALPK3c.1363A>T (p.Arg455Ter)
c.1969A>T (p.Arg657Ter)
15g.84840643G>ACA393375472ALPK3c.1364G>A (p.Arg455Lys)
c.1970G>A (p.Arg657Lys)
15g.84840643G>CCA393375473ALPK3c.1364G>C (p.Arg455Thr)
c.1970G>C (p.Arg657Thr)
15g.84840643G>TCA393375474ALPK3c.1364G>T (p.Arg455Ile)
c.1970G>T (p.Arg657Ile)
15g.84840644A>CCA393375475ALPK3c.1365A>C (p.Arg455Ser)
c.1971A>C (p.Arg657Ser)
15g.84840644A>GCA492277599ALPK3c.1365A>G (p.Arg455=)
c.1971A>G (p.Arg657=)
15g.84840644A>TCA393375476ALPK3c.1365A>T (p.Arg455Ser)
c.1971A>T (p.Arg657Ser)
15g.84840644_84840645insCCCA972230733ALPK3c.1365_1366insCC (p.Ser456ProfsTer16)
c.1971_1972insCC (p.Ser658ProfsTer16)
gnomAD v3 gnomAD v4
15g.84840645A>CCA393375477ALPK3c.1366A>C (p.Ser456Arg)
c.1972A>C (p.Ser658Arg)
15g.84840645A>GCA393375478ALPK3c.1366A>G (p.Ser456Gly)
c.1972A>G (p.Ser658Gly)
15g.84840645A>TCA393375479ALPK3c.1366A>T (p.Ser456Cys)
c.1972A>T (p.Ser658Cys)
15g.84840646G>ACA393375481ALPK3c.1367G>A (p.Ser456Asn)
c.1973G>A (p.Ser658Asn)
dbSNP gnomAD v2 gnomAD v4
15g.84840646G>CCA393375482ALPK3c.1367G>C (p.Ser456Thr)
c.1973G>C (p.Ser658Thr)
15g.84840646G=CA2192368417ALPK3c.1367G= (p.Ser456=)
c.1973G= (p.Ser658=)
15g.84840646G>TCA393375480ALPK3c.1367G>T (p.Ser456Ile)
c.1973G>T (p.Ser658Ile)
15g.84840647C>ACA393375483ALPK3c.1368C>A (p.Ser456Arg)
c.1974C>A (p.Ser658Arg)
15g.84840647C=CA2192368418ALPK3c.1368C= (p.Ser456=)
c.1974C= (p.Ser658=)
15g.84840647C>GCA273666309ALPK3c.1368C>G (p.Ser456Arg)
c.1974C>G (p.Ser658Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840647C>TCA492277608ALPK3c.1368C>T (p.Ser456=)
c.1974C>T (p.Ser658=)
gnomAD v4
15g.84840648G>ACA393375484ALPK3c.1369G>A (p.Glu457Lys)
c.1975G>A (p.Glu659Lys)
ClinVar dbSNP gnomAD v4
15g.84840648G>CCA393375485ALPK3c.1369G>C (p.Glu457Gln)
c.1975G>C (p.Glu659Gln)
15g.84840648G>TCA393375486ALPK3c.1369G>T (p.Glu457Ter)
c.1975G>T (p.Glu659Ter)
gnomAD v4
15g.84840649A>CCA393375489ALPK3c.1370A>C (p.Glu457Ala)
c.1976A>C (p.Glu659Ala)
15g.84840649A>GCA393375487ALPK3c.1370A>G (p.Glu457Gly)
c.1976A>G (p.Glu659Gly)
15g.84840649A>TCA393375488ALPK3c.1370A>T (p.Glu457Val)
c.1976A>T (p.Glu659Val)
15g.84840650G>ACA492277614ALPK3c.1371G>A (p.Glu457=)
c.1977G>A (p.Glu659=)
15g.84840650G>CCA393375490ALPK3c.1371G>C (p.Glu457Asp)
c.1977G>C (p.Glu659Asp)
15g.84840650G>TCA393375491ALPK3c.1371G>T (p.Glu457Asp)
c.1977G>T (p.Glu659Asp)
15g.84840654delCA2630109278ALPK3c.1375del (p.Val459CysfsTer12)
c.1981del (p.Val661CysfsTer12)
gnomAD v4
15g.84840651G>ACA393375492ALPK3c.1372G>A (p.Gly458Arg)
c.1978G>A (p.Gly660Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840651G>CCA393375493ALPK3c.1372G>C (p.Gly458Arg)
c.1978G>C (p.Gly660Arg)
15g.84840651G=CA2192368419ALPK3c.1372G= (p.Gly458=)
c.1978G= (p.Gly660=)
15g.84840651G>TCA393375494ALPK3c.1372G>T (p.Gly458Trp)
c.1978G>T (p.Gly660Trp)
15g.84840652G>ACA7709171ALPK3c.1373G>A (p.Gly458Glu)
c.1979G>A (p.Gly660Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840652G>CCA393375496ALPK3c.1373G>C (p.Gly458Ala)
c.1979G>C (p.Gly660Ala)
15g.84840652G=CA2192368420ALPK3c.1373G= (p.Gly458=)
c.1979G= (p.Gly660=)
15g.84840652G>TCA393375495ALPK3c.1373G>T (p.Gly458Val)
c.1979G>T (p.Gly660Val)
15g.84840653G>ACA7709172ALPK3c.1374G>A (p.Gly458=)
c.1980G>A (p.Gly660=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.84840653G>CCA492277619ALPK3c.1374G>C (p.Gly458=)
c.1980G>C (p.Gly660=)
15g.84840653G=CA2192368421ALPK3c.1374G= (p.Gly458=)
c.1980G= (p.Gly660=)
15g.84840653G>TCA492277621ALPK3c.1374G>T (p.Gly458=)
c.1980G>T (p.Gly660=)
15g.84840654G>ACA393375498ALPK3c.1375G>A (p.Val459Met)
c.1981G>A (p.Val661Met)
15g.84840654G>CCA393375497ALPK3c.1375G>C (p.Val459Leu)
c.1981G>C (p.Val661Leu)
15g.84840654G>TCA393375499ALPK3c.1375G>T (p.Val459Leu)
c.1981G>T (p.Val661Leu)
ClinVar gnomAD v4
15g.84840655T>ACA393375500ALPK3c.1376T>A (p.Val459Glu)
c.1982T>A (p.Val661Glu)
15g.84840655T>CCA393375502ALPK3c.1376T>C (p.Val459Ala)
c.1982T>C (p.Val661Ala)
15g.84840655T>GCA393375501ALPK3c.1376T>G (p.Val459Gly)
c.1982T>G (p.Val661Gly)
15g.84840656G>ACA492277625ALPK3c.1377G>A (p.Val459=)
c.1983G>A (p.Val661=)
15g.84840656G>CCA492277626ALPK3c.1377G>C (p.Val459=)
c.1983G>C (p.Val661=)
15g.84840656G=CA2192368422ALPK3c.1377G= (p.Val459=)
c.1983G= (p.Val661=)
15g.84840656G>TCA492277624ALPK3c.1377G>T (p.Val459=)
c.1983G>T (p.Val661=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84840657C>ACA393375503ALPK3c.1378C>A (p.Pro460Thr)
c.1984C>A (p.Pro662Thr)
15g.84840657C>GCA393375505ALPK3c.1378C>G (p.Pro460Ala)
c.1984C>G (p.Pro662Ala)
gnomAD v4
15g.84840657C>TCA393375504ALPK3c.1378C>T (p.Pro460Ser)
c.1984C>T (p.Pro662Ser)
gnomAD v4
15g.84840658C>ACA393375506ALPK3c.1379C>A (p.Pro460His)
c.1985C>A (p.Pro662His)
15g.84840658C>GCA393375507ALPK3c.1379C>G (p.Pro460Arg)
c.1985C>G (p.Pro662Arg)
15g.84840658C>TCA393375508ALPK3c.1379C>T (p.Pro460Leu)
c.1985C>T (p.Pro662Leu)
15g.84840659T>ACA492277633ALPK3c.1380T>A (p.Pro460=)
c.1986T>A (p.Pro662=)
15g.84840659T>CCA492277635ALPK3c.1380T>C (p.Pro460=)
c.1986T>C (p.Pro662=)
gnomAD v4
15g.84840659T>GCA492277636ALPK3c.1380T>G (p.Pro460=)
c.1986T>G (p.Pro662=)
15g.84840660G>ACA393375509ALPK3c.1381G>A (p.Gly461Ser)
c.1987G>A (p.Gly663Ser)
gnomAD v4
15g.84840660G>CCA393375510ALPK3c.1381G>C (p.Gly461Arg)
c.1987G>C (p.Gly663Arg)
15g.84840660G>TCA393375511ALPK3c.1381G>T (p.Gly461Cys)
c.1987G>T (p.Gly663Cys)
15g.84840661G>ACA7709173ALPK3c.1382G>A (p.Gly461Asp)
c.1988G>A (p.Gly663Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840661G>CCA393375512ALPK3c.1382G>C (p.Gly461Ala)
c.1988G>C (p.Gly663Ala)
15g.84840661G=CA2192368423ALPK3c.1382G= (p.Gly461=)
c.1988G= (p.Gly663=)
15g.84840661G>TCA393375513ALPK3c.1382G>T (p.Gly461Val)
c.1988G>T (p.Gly663Val)
15g.84840662C>ACA492277641ALPK3c.1383C>A (p.Gly461=)
c.1989C>A (p.Gly663=)
15g.84840662C=CA2192368424ALPK3c.1383C= (p.Gly461=)
c.1989C= (p.Gly663=)
15g.84840662C>GCA492277643ALPK3c.1383C>G (p.Gly461=)
c.1989C>G (p.Gly663=)
15g.84840662C>TCA7709174ALPK3c.1383C>T (p.Gly461=)
c.1989C>T (p.Gly663=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84840662_84840663delinsACCA2739269634ALPK3c.1383_1384delinsAC (p.Ala462Pro)
c.1989_1990delinsAC (p.Ala664Pro)
ClinVar
15g.84840663G>ACA7709175ALPK3c.1384G>A (p.Ala462Thr)
c.1990G>A (p.Ala664Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.84840663G>CCA393375514ALPK3c.1384G>C (p.Ala462Pro)
c.1990G>C (p.Ala664Pro)
dbSNP gnomAD v3 gnomAD v4
15g.84840663G=CA2192368425ALPK3c.1384G= (p.Ala462=)
c.1990G= (p.Ala664=)
15g.84840663G>TCA393375515ALPK3c.1384G>T (p.Ala462Ser)
c.1990G>T (p.Ala664Ser)
15g.84840664C>ACA393375516ALPK3c.1385C>A (p.Ala462Asp)
c.1991C>A (p.Ala664Asp)
COSMIC COSMIC
15g.84840664C>GCA393375518ALPK3c.1385C>G (p.Ala462Gly)
c.1991C>G (p.Ala664Gly)
15g.84840664C>TCA393375517ALPK3c.1385C>T (p.Ala462Val)
c.1991C>T (p.Ala664Val)
gnomAD v4
15g.84840665T>ACA492277649ALPK3c.1386T>A (p.Ala462=)
c.1992T>A (p.Ala664=)
15g.84840665T>CCA492277650ALPK3c.1386T>C (p.Ala462=)
c.1992T>C (p.Ala664=)
15g.84840665T>GCA492277651ALPK3c.1386T>G (p.Ala462=)
c.1992T>G (p.Ala664=)
15g.84840666C>ACA393375519ALPK3c.1387C>A (p.Pro463Thr)
c.1993C>A (p.Pro665Thr)
15g.84840666C=CA2192368426ALPK3c.1387C= (p.Pro463=)
c.1993C= (p.Pro665=)
15g.84840666C>GCA393375520ALPK3c.1387C>G (p.Pro463Ala)
c.1993C>G (p.Pro665Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.84840666C>TCA273666329ALPK3c.1387C>T (p.Pro463Ser)
c.1993C>T (p.Pro665Ser)
dbSNP
15g.84840667C>ACA393375521ALPK3c.1388C>A (p.Pro463His)
c.1994C>A (p.Pro665His)
15g.84840667C>GCA393375522ALPK3c.1388C>G (p.Pro463Arg)
c.1994C>G (p.Pro665Arg)
15g.84840667C>TCA393375523ALPK3c.1388C>T (p.Pro463Leu)
c.1994C>T (p.Pro665Leu)
gnomAD v4
15g.84840668T>ACA492277659ALPK3c.1389T>A (p.Pro463=)
c.1995T>A (p.Pro665=)
15g.84840668T>CCA273666331ALPK3c.1389T>C (p.Pro463=)
c.1995T>C (p.Pro665=)
dbSNP
15g.84840668T>GCA492277660ALPK3c.1389T>G (p.Pro463=)
c.1995T>G (p.Pro665=)
15g.84840668T=CA2192368427ALPK3c.1389T= (p.Pro463=)
c.1995T= (p.Pro665=)

Number of alleles fetched