Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.29530499T>ACA499151690TAOK1c.2241T>A (p.Thr747=)
c.1797T>A (p.Thr599=)
n.325T>A
dbSNP gnomAD v2 gnomAD v4
17g.29530499T>CCA499151691TAOK1c.2241T>C (p.Thr747=)
c.1797T>C (p.Thr599=)
n.325T>C
gnomAD v4
17g.29530499T>GCA499151692TAOK1c.2241T>G (p.Thr747=)
c.1797T>G (p.Thr599=)
n.325T>G
gnomAD v4
17g.29530499T=CA2254806462TAOK1c.2241T= (p.Thr747=)
c.1797T= (p.Thr599=)
n.325T=
17g.29530500A>CCA398914915TAOK1c.2242A>C (p.Thr748Pro)
c.1798A>C (p.Thr600Pro)
n.326A>C
17g.29530500A>GCA398914916TAOK1c.2242A>G (p.Thr748Ala)
c.1798A>G (p.Thr600Ala)
n.326A>G
17g.29530500A>TCA398914918TAOK1c.2242A>T (p.Thr748Ser)
c.1798A>T (p.Thr600Ser)
n.326A>T
gnomAD v4
17g.29530501C>ACA398914919TAOK1c.2243C>A (p.Thr748Lys)
c.1799C>A (p.Thr600Lys)
n.327C>A
17g.29530501C>GCA398914921TAOK1c.2243C>G (p.Thr748Arg)
c.1799C>G (p.Thr600Arg)
n.327C>G
17g.29530501C>TCA398914922TAOK1c.2243C>T (p.Thr748Ile)
c.1799C>T (p.Thr600Ile)
n.327C>T
17g.29530502A=CA2254806463TAOK1c.2244A= (p.Thr748=)
c.1800A= (p.Thr600=)
n.328A=
17g.29530502A>CCA499151693TAOK1c.2244A>C (p.Thr748=)
c.1800A>C (p.Thr600=)
n.328A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.29530502A>GCA499151694TAOK1c.2244A>G (p.Thr748=)
c.1800A>G (p.Thr600=)
n.328A>G
17g.29530502A>TCA499151695TAOK1c.2244A>T (p.Thr748=)
c.1800A>T (p.Thr600=)
n.328A>T
17g.29530503C>ACA398914928TAOK1c.2245C>A (p.Pro749Thr)
c.1801C>A (p.Pro601Thr)
n.329C>A
17g.29530503C>GCA398914926TAOK1c.2245C>G (p.Pro749Ala)
c.1801C>G (p.Pro601Ala)
n.329C>G
17g.29530503C>TCA398914924TAOK1c.2245C>T (p.Pro749Ser)
c.1801C>T (p.Pro601Ser)
n.329C>T
17g.29530504C>ACA398914931TAOK1c.2246C>A (p.Pro749Gln)
c.1802C>A (p.Pro601Gln)
n.330C>A
17g.29530504C=CA2254806464TAOK1c.2246C= (p.Pro749=)
c.1802C= (p.Pro601=)
n.330C=
17g.29530504C>GCA398914932TAOK1c.2246C>G (p.Pro749Arg)
c.1802C>G (p.Pro601Arg)
n.330C>G
dbSNP
17g.29530504C>TCA398914935TAOK1c.2246C>T (p.Pro749Leu)
c.1802C>T (p.Pro601Leu)
n.330C>T
17g.29530505A=CA2254806465TAOK1c.2247A= (p.Pro749=)
c.1803A= (p.Pro601=)
n.331A=
17g.29530505A>CCA499151697TAOK1c.2247A>C (p.Pro749=)
c.1803A>C (p.Pro601=)
n.331A>C
17g.29530505A>GCA499151698TAOK1c.2247A>G (p.Pro749=)
c.1803A>G (p.Pro601=)
n.331A>G
dbSNP gnomAD v3 gnomAD v4
17g.29530505A>TCA499151696TAOK1c.2247A>T (p.Pro749=)
c.1803A>T (p.Pro601=)
n.331A>T
17g.29530506A>CCA398914938TAOK1c.2248A>C (p.Lys750Gln)
c.1804A>C (p.Lys602Gln)
n.332A>C
17g.29530506A>GCA398914939TAOK1c.2248A>G (p.Lys750Glu)
c.1804A>G (p.Lys602Glu)
n.332A>G
17g.29530506A>TCA398914941TAOK1c.2248A>T (p.Lys750Ter)
c.1804A>T (p.Lys602Ter)
n.332A>T
17g.29530507A>CCA398914947TAOK1c.2249A>C (p.Lys750Thr)
c.1805A>C (p.Lys602Thr)
n.333A>C
17g.29530507A>GCA398914943TAOK1c.2249A>G (p.Lys750Arg)
c.1805A>G (p.Lys602Arg)
n.333A>G
17g.29530507A>TCA398914945TAOK1c.2249A>T (p.Lys750Met)
c.1805A>T (p.Lys602Met)
n.333A>T
17g.29530508G>ACA499151699TAOK1c.2250G>A (p.Lys750=)
c.1806G>A (p.Lys602=)
n.334G>A
17g.29530508G>CCA398914949TAOK1c.2250G>C (p.Lys750Asn)
c.1806G>C (p.Lys602Asn)
n.334G>C
17g.29530508G>TCA398914951TAOK1c.2250G>T (p.Lys750Asn)
c.1806G>T (p.Lys602Asn)
n.334G>T
17g.29530511_29530514delCA2573054361TAOK1c.2253_2256del (p.Glu752ThrfsTer5)
c.1809_1812del (p.Glu604ThrfsTer5)
n.337_340del
ClinVar dbSNP
17g.29530509A>CCA398914954TAOK1c.2251A>C (p.Ser751Arg)
c.1807A>C (p.Ser603Arg)
n.335A>C
17g.29530509A>GCA398914956TAOK1c.2251A>G (p.Ser751Gly)
c.1807A>G (p.Ser603Gly)
n.335A>G
17g.29530509A>TCA398914958TAOK1c.2251A>T (p.Ser751Cys)
c.1807A>T (p.Ser603Cys)
n.335A>T
17g.29530510G>ACA398914960TAOK1c.2252G>A (p.Ser751Asn)
c.1808G>A (p.Ser603Asn)
n.336G>A
17g.29530510G>CCA398914962TAOK1c.2252G>C (p.Ser751Thr)
c.1808G>C (p.Ser603Thr)
n.336G>C
17g.29530510G>TCA398914964TAOK1c.2252G>T (p.Ser751Ile)
c.1808G>T (p.Ser603Ile)
n.336G>T
17g.29530511T>ACA398914966TAOK1c.2253T>A (p.Ser751Arg)
c.1809T>A (p.Ser603Arg)
n.337T>A
17g.29530511T>CCA499151700TAOK1c.2253T>C (p.Ser751=)
c.1809T>C (p.Ser603=)
n.337T>C
17g.29530511T>GCA398914968TAOK1c.2253T>G (p.Ser751Arg)
c.1809T>G (p.Ser603Arg)
n.337T>G
17g.29530512G>ACA398914970TAOK1c.2254G>A (p.Glu752Lys)
c.1810G>A (p.Glu604Lys)
n.338G>A
17g.29530512G>CCA398914972TAOK1c.2254G>C (p.Glu752Gln)
c.1810G>C (p.Glu604Gln)
n.338G>C
17g.29530512G>TCA398914973TAOK1c.2254G>T (p.Glu752Ter)
c.1810G>T (p.Glu604Ter)
n.338G>T
17g.29530513A>CCA398914975TAOK1c.2255A>C (p.Glu752Ala)
c.1811A>C (p.Glu604Ala)
n.339A>C
17g.29530513A>GCA398914980TAOK1c.2255A>G (p.Glu752Gly)
c.1811A>G (p.Glu604Gly)
n.339A>G
17g.29530513A>TCA398914977TAOK1c.2255A>T (p.Glu752Val)
c.1811A>T (p.Glu604Val)
n.339A>T

Number of alleles fetched