Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50626102C>TCA10324853ARSAc.980-39G>A (p.=)
c.722-39G>A (p.=)
dbSNP ExAC
22g.50626106G>TCA10324854ARSAc.980-43C>A (p.=)
c.722-43C>A (p.=)
dbSNP ExAC gnomAD
22g.50626109G>ACA640358661ARSAc.980-46C>T (p.=)
c.722-46C>T (p.=)
gnomAD
22g.50626115G>TCA657868334ARSAc.979+39C>A (p.=)
c.721+39C>A (p.=)
COSMIC
22g.50626116T>CCA10324855ARSAc.979+38A>G (p.=)
c.721+38A>G (p.=)
dbSNP ExAC gnomAD
22g.50626119G>CCA640358662ARSAc.979+35C>G (p.=)
c.721+35C>G (p.=)
gnomAD
22g.50626121C>TCA640358663ARSAc.979+33G>A (p.=)
c.721+33G>A (p.=)
gnomAD
22g.50626122C>TCA640358664ARSAc.979+32G>A (p.=)
c.721+32G>A (p.=)
gnomAD
22g.50626126G>ACA754068647ARSAc.979+28C>T (p.=)
c.721+28C>T (p.=)
22g.50626128T>CCA325531323ARSAc.979+26A>G (p.=)
c.721+26A>G (p.=)
dbSNP
22g.50626133G>ACA10324856ARSAc.979+21C>T (p.=)
c.721+21C>T (p.=)
dbSNP ExAC gnomAD
22g.50626134G>ACA640358665ARSAc.979+20C>T (p.=)
c.721+20C>T (p.=)
gnomAD
22g.50626134G>TCA1026680647ARSAc.979+20C>A (p.=)
c.721+20C>A (p.=)
22g.50626136G>ACA10324857ARSAc.979+18C>T (p.=)
c.721+18C>T (p.=)
dbSNP ExAC
22g.50626139G>ACA325531325ARSAc.979+15C>T (p.=)
c.721+15C>T (p.=)
dbSNP
22g.50626140G>ACA754068655ARSAc.979+14C>T (p.=)
c.721+14C>T (p.=)
22g.50626141C>GCA10324858ARSAc.979+13G>C (p.=)
c.721+13G>C (p.=)
dbSNP ExAC gnomAD
22g.50626141C>TCA10324859ARSAc.979+13G>A (p.=)
c.721+13G>A (p.=)
dbSNP ExAC gnomAD
22g.50626144G>ACA640358666ARSAc.979+10C>T (p.=)
c.721+10C>T (p.=)
gnomAD
22g.50626145C>TCA10324860ARSAc.979+9G>A (p.=)
c.721+9G>A (p.=)
dbSNP ExAC gnomAD
22g.50626146G>ACA10324861ARSAc.979+8C>T (p.=)
c.721+8C>T (p.=)
dbSNP ExAC gnomAD COSMIC
22g.50626149C>TCA640358667ARSAc.979+5G>A (p.=)
c.721+5G>A (p.=)
gnomAD
22g.50626151_50626154delCA16042036ARSAc.978_979+2del
c.720_721+2del
ClinVar dbSNP
22g.50626152A>CCA412174187ARSAc.979+2T>G (p.=)
c.721+2T>G (p.=)
22g.50626152A>GCA412174190ARSAc.979+2T>C (p.=)
c.721+2T>C (p.=)
22g.50626152A>TCA412174195ARSAc.979+2T>A (p.=)
c.721+2T>A (p.=)
22g.50626153C>ACA10324862ARSAc.979+1G>T (p.=)
c.721+1G>T (p.=)
dbSNP ExAC gnomAD
22g.50626153C>GCA412174203ARSAc.979+1G>C (p.=)
c.721+1G>C (p.=)
22g.50626153C>TCA278479ARSAc.979+1G>A (p.=)
c.721+1G>A (p.=)
ClinVar dbSNP gnomAD
22g.50626154C>ACA412174211ARSAc.979G>T (p.Gly327Cys)
c.721G>T (p.Gly241Cys)
22g.50626154C>GCA412174214ARSAc.979G>C (p.Gly327Arg)
c.721G>C (p.Gly241Arg)
22g.50626154C>TCA10324863ARSAc.979G>A (p.Gly327Ser)
c.721G>A (p.Gly241Ser)
ClinVar dbSNP ExAC gnomAD
22g.50626155G>ACA515248931ARSAc.978C>T (p.Pro326=)
c.720C>T (p.Pro240=)
gnomAD
22g.50626155G>CCA515248932ARSAc.978C>G (p.Pro326=)
c.720C>G (p.Pro240=)
COSMIC
22g.50626155G>TCA515248930ARSAc.978C>A (p.Pro326=)
c.720C>A (p.Pro240=)
22g.50626156G>ACA412174222ARSAc.977C>T (p.Pro326Leu)
c.719C>T (p.Pro240Leu)
gnomAD
22g.50626156G>CCA412174226ARSAc.977C>G (p.Pro326Arg)
c.719C>G (p.Pro240Arg)
22g.50626156G>TCA412174229ARSAc.977C>A (p.Pro326His)
c.719C>A (p.Pro240His)
22g.50626157G>ACA412174235ARSAc.976C>T (p.Pro326Ser)
c.718C>T (p.Pro240Ser)
gnomAD
22g.50626157G>CCA412174238ARSAc.976C>G (p.Pro326Ala)
c.718C>G (p.Pro240Ala)
22g.50626157G>TCA412174233ARSAc.976C>A (p.Pro326Thr)
c.718C>A (p.Pro240Thr)
22g.50626158A>CCA515248935ARSAc.975T>G (p.Ala325=)
c.717T>G (p.Ala239=)
22g.50626158A>GCA515248933ARSAc.975T>C (p.Ala325=)
c.717T>C (p.Ala239=)
22g.50626158A>TCA515248934ARSAc.975T>A (p.Ala325=)
c.717T>A (p.Ala239=)
22g.50626159G>ACA412174245ARSAc.974C>T (p.Ala325Val)
c.716C>T (p.Ala239Val)
22g.50626159G>CCA412174241ARSAc.974C>G (p.Ala325Gly)
c.716C>G (p.Ala239Gly)
22g.50626159G>TCA412174243ARSAc.974C>A (p.Ala325Asp)
c.716C>A (p.Ala239Asp)
22g.50626160C>ACA412174250ARSAc.973G>T (p.Ala325Ser)
c.715G>T (p.Ala239Ser)
22g.50626160C>GCA412174253ARSAc.973G>C (p.Ala325Pro)
c.715G>C (p.Ala239Pro)
22g.50626160C>TCA10324864ARSAc.973G>A (p.Ala325Thr)
c.715G>A (p.Ala239Thr)
dbSNP ExAC gnomAD

Number of alleles fetched