Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.113399297C>ACA382644809ANKK1c.1328C>A (p.Thr443Asn)
c.1361C>A (p.Thr454Asn)
c.1331C>A (p.Thr444Asn)
c.1139C>A (p.Thr380Asn)
c.1358C>A (p.Thr453Asn)
11g.113399297C=CA2001152021ANKK1c.1328C= (p.Thr443=)
c.1361C= (p.Thr454=)
c.1331C= (p.Thr444=)
c.1139C= (p.Thr380=)
c.1358C= (p.Thr453=)
11g.113399297C>GCA382644811ANKK1c.1328C>G (p.Thr443Ser)
c.1361C>G (p.Thr454Ser)
c.1331C>G (p.Thr444Ser)
c.1139C>G (p.Thr380Ser)
c.1358C>G (p.Thr453Ser)
11g.113399297C>TCA382644812ANKK1c.1328C>T (p.Thr443Ile)
c.1361C>T (p.Thr454Ile)
c.1331C>T (p.Thr444Ile)
c.1139C>T (p.Thr380Ile)
c.1358C>T (p.Thr453Ile)
dbSNP gnomAD v2 gnomAD v4
11g.113399298T>ACA477042479ANKK1c.1329T>A (p.Thr443=)
c.1362T>A (p.Thr454=)
c.1332T>A (p.Thr444=)
c.1140T>A (p.Thr380=)
c.1359T>A (p.Thr453=)
11g.113399298T>CCA477042480ANKK1c.1329T>C (p.Thr443=)
c.1362T>C (p.Thr454=)
c.1332T>C (p.Thr444=)
c.1140T>C (p.Thr380=)
c.1359T>C (p.Thr453=)
11g.113399298T>GCA477042482ANKK1c.1329T>G (p.Thr443=)
c.1362T>G (p.Thr454=)
c.1332T>G (p.Thr444=)
c.1140T>G (p.Thr380=)
c.1359T>G (p.Thr453=)
11g.113399299G>ACA382644815ANKK1c.1330G>A (p.Ala444Thr)
c.1363G>A (p.Ala455Thr)
c.1333G>A (p.Ala445Thr)
c.1141G>A (p.Ala381Thr)
c.1360G>A (p.Ala454Thr)
gnomAD v4
11g.113399299G>CCA382644818ANKK1c.1330G>C (p.Ala444Pro)
c.1363G>C (p.Ala455Pro)
c.1333G>C (p.Ala445Pro)
c.1141G>C (p.Ala381Pro)
c.1360G>C (p.Ala454Pro)
11g.113399299G>TCA382644817ANKK1c.1330G>T (p.Ala444Ser)
c.1363G>T (p.Ala455Ser)
c.1333G>T (p.Ala445Ser)
c.1141G>T (p.Ala381Ser)
c.1360G>T (p.Ala454Ser)
11g.113399300C>ACA382644821ANKK1c.1331C>A (p.Ala444Glu)
c.1364C>A (p.Ala455Glu)
c.1334C>A (p.Ala445Glu)
c.1142C>A (p.Ala381Glu)
c.1361C>A (p.Ala454Glu)
gnomAD v4
11g.113399300C=CA2001152024ANKK1c.1331C= (p.Ala444=)
c.1364C= (p.Ala455=)
c.1334C= (p.Ala445=)
c.1142C= (p.Ala381=)
c.1361C= (p.Ala454=)
11g.113399300C>GCA382644823ANKK1c.1331C>G (p.Ala444Gly)
c.1364C>G (p.Ala455Gly)
c.1334C>G (p.Ala445Gly)
c.1142C>G (p.Ala381Gly)
c.1361C>G (p.Ala454Gly)
dbSNP gnomAD v4
11g.113399300C>TCA228615194ANKK1c.1331C>T (p.Ala444Val)
c.1364C>T (p.Ala455Val)
c.1334C>T (p.Ala445Val)
c.1142C>T (p.Ala381Val)
c.1361C>T (p.Ala454Val)
dbSNP gnomAD v2 gnomAD v4
11g.113399301G>ACA6280925ANKK1c.1332G>A (p.Ala444=)
c.1365G>A (p.Ala455=)
c.1335G>A (p.Ala445=)
c.1143G>A (p.Ala381=)
c.1362G>A (p.Ala454=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.113399301G>CCA477042485ANKK1c.1332G>C (p.Ala444=)
c.1365G>C (p.Ala455=)
c.1335G>C (p.Ala445=)
c.1143G>C (p.Ala381=)
c.1362G>C (p.Ala454=)
11g.113399301G=CA2001152027ANKK1c.1332G= (p.Ala444=)
c.1365G= (p.Ala455=)
c.1335G= (p.Ala445=)
c.1143G= (p.Ala381=)
c.1362G= (p.Ala454=)
11g.113399301G>TCA477042486ANKK1c.1332G>T (p.Ala444=)
c.1365G>T (p.Ala455=)
c.1335G>T (p.Ala445=)
c.1143G>T (p.Ala381=)
c.1362G>T (p.Ala454=)
gnomAD v4
11g.113399302C>ACA382644827ANKK1c.1333C>A (p.Arg445Ser)
c.1366C>A (p.Arg456Ser)
c.1336C>A (p.Arg446Ser)
c.1144C>A (p.Arg382Ser)
c.1363C>A (p.Arg455Ser)
gnomAD v4
11g.113399302C=CA2001152033ANKK1c.1333C= (p.Arg445=)
c.1366C= (p.Arg456=)
c.1336C= (p.Arg446=)
c.1144C= (p.Arg382=)
c.1363C= (p.Arg455=)
11g.113399302C>GCA382644829ANKK1c.1333C>G (p.Arg445Gly)
c.1366C>G (p.Arg456Gly)
c.1336C>G (p.Arg446Gly)
c.1144C>G (p.Arg382Gly)
c.1363C>G (p.Arg455Gly)
11g.113399302C>TCA6280926ANKK1c.1333C>T (p.Arg445Cys)
c.1366C>T (p.Arg456Cys)
c.1336C>T (p.Arg446Cys)
c.1144C>T (p.Arg382Cys)
c.1363C>T (p.Arg455Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.113399303G>ACA6280927ANKK1c.1334G>A (p.Arg445His)
c.1367G>A (p.Arg456His)
c.1337G>A (p.Arg446His)
c.1145G>A (p.Arg382His)
c.1364G>A (p.Arg455His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399303G>CCA382644832ANKK1c.1334G>C (p.Arg445Pro)
c.1367G>C (p.Arg456Pro)
c.1337G>C (p.Arg446Pro)
c.1145G>C (p.Arg382Pro)
c.1364G>C (p.Arg455Pro)
11g.113399303G=CA2001152036ANKK1c.1334G= (p.Arg445=)
c.1367G= (p.Arg456=)
c.1337G= (p.Arg446=)
c.1145G= (p.Arg382=)
c.1364G= (p.Arg455=)
11g.113399303G>TCA382644834ANKK1c.1334G>T (p.Arg445Leu)
c.1367G>T (p.Arg456Leu)
c.1337G>T (p.Arg446Leu)
c.1145G>T (p.Arg382Leu)
c.1364G>T (p.Arg455Leu)
gnomAD v4
11g.113399304C>ACA477042493ANKK1c.1335C>A (p.Arg445=)
c.1368C>A (p.Arg456=)
c.1338C>A (p.Arg446=)
c.1146C>A (p.Arg382=)
c.1365C>A (p.Arg455=)
11g.113399304C>GCA477042490ANKK1c.1335C>G (p.Arg445=)
c.1368C>G (p.Arg456=)
c.1338C>G (p.Arg446=)
c.1146C>G (p.Arg382=)
c.1365C>G (p.Arg455=)
11g.113399304C>TCA477042489ANKK1c.1335C>T (p.Arg445=)
c.1368C>T (p.Arg456=)
c.1338C>T (p.Arg446=)
c.1146C>T (p.Arg382=)
c.1365C>T (p.Arg455=)
11g.113399305C>ACA382644836ANKK1c.1336C>A (p.Leu446Met)
c.1369C>A (p.Leu457Met)
c.1339C>A (p.Leu447Met)
c.1147C>A (p.Leu383Met)
c.1366C>A (p.Leu456Met)
11g.113399305C>GCA382644839ANKK1c.1336C>G (p.Leu446Val)
c.1369C>G (p.Leu457Val)
c.1339C>G (p.Leu447Val)
c.1147C>G (p.Leu383Val)
c.1366C>G (p.Leu456Val)
11g.113399305C>TCA477042496ANKK1c.1336C>T (p.Leu446=)
c.1369C>T (p.Leu457=)
c.1339C>T (p.Leu447=)
c.1147C>T (p.Leu383=)
c.1366C>T (p.Leu456=)
11g.113399306T>ACA382644841ANKK1c.1337T>A (p.Leu446Gln)
c.1370T>A (p.Leu457Gln)
c.1340T>A (p.Leu447Gln)
c.1148T>A (p.Leu383Gln)
c.1367T>A (p.Leu456Gln)
gnomAD v4
11g.113399306T>CCA382644842ANKK1c.1337T>C (p.Leu446Pro)
c.1370T>C (p.Leu457Pro)
c.1340T>C (p.Leu447Pro)
c.1148T>C (p.Leu383Pro)
c.1367T>C (p.Leu456Pro)
11g.113399306T>GCA382644843ANKK1c.1337T>G (p.Leu446Arg)
c.1370T>G (p.Leu457Arg)
c.1340T>G (p.Leu447Arg)
c.1148T>G (p.Leu383Arg)
c.1367T>G (p.Leu456Arg)
11g.113399307G>ACA477042500ANKK1c.1338G>A (p.Leu446=)
c.1371G>A (p.Leu457=)
c.1341G>A (p.Leu447=)
c.1149G>A (p.Leu383=)
c.1368G>A (p.Leu456=)
gnomAD v4
11g.113399307G>CCA477042501ANKK1c.1338G>C (p.Leu446=)
c.1371G>C (p.Leu457=)
c.1341G>C (p.Leu447=)
c.1149G>C (p.Leu383=)
c.1368G>C (p.Leu456=)
11g.113399307G>TCA477042502ANKK1c.1338G>T (p.Leu446=)
c.1371G>T (p.Leu457=)
c.1341G>T (p.Leu447=)
c.1149G>T (p.Leu383=)
c.1368G>T (p.Leu456=)
gnomAD v4
11g.113399308C>ACA382644845ANKK1c.1339C>A (p.Leu447Ile)
c.1372C>A (p.Leu458Ile)
c.1342C>A (p.Leu448Ile)
c.1150C>A (p.Leu384Ile)
c.1369C>A (p.Leu457Ile)
gnomAD v4
11g.113399308C=CA2001152041ANKK1c.1339C= (p.Leu447=)
c.1372C= (p.Leu458=)
c.1342C= (p.Leu448=)
c.1150C= (p.Leu384=)
c.1369C= (p.Leu457=)
11g.113399308C>GCA382644847ANKK1c.1339C>G (p.Leu447Val)
c.1372C>G (p.Leu458Val)
c.1342C>G (p.Leu448Val)
c.1150C>G (p.Leu384Val)
c.1369C>G (p.Leu457Val)
11g.113399308C>TCA382644849ANKK1c.1339C>T (p.Leu447Phe)
c.1372C>T (p.Leu458Phe)
c.1342C>T (p.Leu448Phe)
c.1150C>T (p.Leu384Phe)
c.1369C>T (p.Leu457Phe)
dbSNP gnomAD v2
11g.113399309T>ACA382644852ANKK1c.1340T>A (p.Leu447His)
c.1373T>A (p.Leu458His)
c.1343T>A (p.Leu448His)
c.1151T>A (p.Leu384His)
c.1370T>A (p.Leu457His)
11g.113399309T>CCA382644853ANKK1c.1340T>C (p.Leu447Pro)
c.1373T>C (p.Leu458Pro)
c.1343T>C (p.Leu448Pro)
c.1151T>C (p.Leu384Pro)
c.1370T>C (p.Leu457Pro)
11g.113399309T>GCA382644855ANKK1c.1340T>G (p.Leu447Arg)
c.1373T>G (p.Leu458Arg)
c.1343T>G (p.Leu448Arg)
c.1151T>G (p.Leu384Arg)
c.1370T>G (p.Leu457Arg)
11g.113399310C>ACA477042504ANKK1c.1341C>A (p.Leu447=)
c.1374C>A (p.Leu458=)
c.1344C>A (p.Leu448=)
c.1152C>A (p.Leu384=)
c.1371C>A (p.Leu457=)
11g.113399310C=CA2001152044ANKK1c.1341C= (p.Leu447=)
c.1374C= (p.Leu458=)
c.1344C= (p.Leu448=)
c.1152C= (p.Leu384=)
c.1371C= (p.Leu457=)
11g.113399310C>GCA477042505ANKK1c.1341C>G (p.Leu447=)
c.1374C>G (p.Leu458=)
c.1344C>G (p.Leu448=)
c.1152C>G (p.Leu384=)
c.1371C>G (p.Leu457=)
11g.113399310C>TCA477042506ANKK1c.1341C>T (p.Leu447=)
c.1374C>T (p.Leu458=)
c.1344C>T (p.Leu448=)
c.1152C>T (p.Leu384=)
c.1371C>T (p.Leu457=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.113399311C>ACA382644857ANKK1c.1342C>A (p.Leu448Met)
c.1375C>A (p.Leu459Met)
c.1345C>A (p.Leu449Met)
c.1153C>A (p.Leu385Met)
c.1372C>A (p.Leu458Met)
gnomAD v4

Number of alleles fetched