Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.73136338T>CCA2625552854 gnomAD v4
14g.73136338T>GCA2625552855 gnomAD v4
14g.73136339C>GCA2625552856 gnomAD v4
14g.73136340T>ACA2146453744 dbSNP
14g.73136340T>CCA2625552857 dbSNP gnomAD v4
14g.73136340T=CA2146453743
14g.73136341C>ACA2625552858 gnomAD v4
14g.73136341C=CA2146453745
14g.73136341C>TCA262598288 dbSNP gnomAD v3 gnomAD v4
14g.73136342C=CA2146453746
14g.73136342C>GCA964616013 dbSNP gnomAD v3 gnomAD v4
14g.73136342C>TCA2625552859 gnomAD v4
14g.73136343C=CA2146453747
14g.73136343C>TCA708424038 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136344C>ACA2625552860 gnomAD v4
14g.73136344C=CA2146453748
14g.73136344C>GCA614988806 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136344C>TCA262598290 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136345delCA2625552861 gnomAD v4
14g.73136345G>ACA708424059 dbSNP gnomAD v4
14g.73136345G=CA2146453749
14g.73136345G>TCA2625552862 gnomAD v4
14g.73136345_73136346insTATCA2625552863 gnomAD v4
14g.73136346C>ACA2625552864 gnomAD v4
14g.73136347_73136348insTTAAAAACA2625552865 gnomAD v4
14g.73136348A=CA2146453750
14g.73136348A>GCA2146453751 dbSNP
14g.73136348A>TCA2625552866 gnomAD v4
14g.73136350C>ACA2146453753 dbSNP gnomAD v4
14g.73136350C=CA2146453752
14g.73136351G>ACA2625552867 gnomAD v4
14g.73136351G=CA2146453755
14g.73136351G>TCA2146453756 dbSNP gnomAD v4
14g.73136351_73136352delinsGTCA2146453754
14g.73136352T>ACA262598293 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136352T>CCA708424063 dbSNP gnomAD v3 gnomAD v4
14g.73136352T=CA2146453757
14g.73136354delCA708424060 dbSNP gnomAD v3 gnomAD v4
14g.73136353T>GCA262598295 dbSNP
14g.73136353T=CA2146453758
14g.73136354T>CCA2146453760 dbSNP gnomAD v4
14g.73136354T=CA2146453759
14g.73136355C>ACA2802115355
14g.73136355C=CA2146453761
14g.73136355C>TCA708424072 dbSNP gnomAD v3 gnomAD v4
14g.73136356T>CCA2625552868 gnomAD v4
14g.73136356_73136357insACA2729829352 dbSNP
14g.73136357C>ACA2625552869 gnomAD v4
14g.73136358C>TCA2625552870 gnomAD v4
14g.73136359A>GCA2625552871 gnomAD v4
14g.73136360G>TCA2625552872 gnomAD v4
14g.73136361G>ACA262598299 dbSNP gnomAD v3 gnomAD v4
14g.73136361G=CA2146453762
14g.73136361G>TCA2802115356
14g.73136361_73136362delinsGCCA2146453763
14g.73136362C>ACA2625552873 gnomAD v4
14g.73136362C=CA2146453764
14g.73136362C>TCA2146453765 dbSNP gnomAD v4
14g.73136363delCA708424075 dbSNP gnomAD v3 gnomAD v4
14g.73136363C>ACA708424088 dbSNP gnomAD v4
14g.73136363C=CA2146453766
14g.73136364G>ACA2146453768 dbSNP gnomAD v4
14g.73136364G=CA2146453767
14g.73136364G>TCA2625552874 gnomAD v4
14g.73136365G>ACA2625552875 gnomAD v4
14g.73136365G=CA2146453769
14g.73136365G>TCA2146453770 dbSNP gnomAD v4
14g.73136366A=CA2146453771
14g.73136366A>GCA708424089 dbSNP gnomAD v3 gnomAD v4
14g.73136367G>TCA2625552877 gnomAD v4
14g.73136368G>ACA614988807 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136368G>CCA2146453772 dbSNP
14g.73136368G=CA2146453773
14g.73136368G>TCA2625552879 gnomAD v4
14g.73136369C=CA2146453774
14g.73136369C>TCA262598301 dbSNP gnomAD v4
14g.73136372delCA2625552881 gnomAD v4
14g.73136371_73136372delCA2625552882 gnomAD v4
14g.73136370C>TCA2625552885 gnomAD v4
14g.73136371C>TCA2625552886 gnomAD v4
14g.73136372C>ACA2625552888 gnomAD v4
14g.73136372C=CA2146453775
14g.73136372C>TCA708424098 dbSNP gnomAD v4
14g.73136372_73136373insACA2524052200
14g.73136373delCA2802115357
14g.73136373G>ACA2502672527 gnomAD v4
14g.73136373G>CCA262598305 dbSNP gnomAD v4
14g.73136373G=CA2146453777
14g.73136373G>TCA655795553 gnomAD v4 COSMIC
14g.73136373_73136374delinsGCCA2146453776
14g.73136374C>ACA2625552897 gnomAD v4
14g.73136374C=CA2146453779
14g.73136374C>GCA262598320 dbSNP gnomAD v3 gnomAD v4
14g.73136374C>TCA2146453778 dbSNP gnomAD v4
14g.73136378dupCA2146453780 dbSNP gnomAD v4
14g.73136378delCA262598311 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136375C>ACA2625552900 gnomAD v4
14g.73136376C>ACA2625552902 gnomAD v4
14g.73136376C=CA2146453781
14g.73136376C>GCA262598321 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136376C>TCA2625552903 gnomAD v4
14g.73136379_73136396dupCA2570222999 dbSNP gnomAD v3 gnomAD v4
14g.73136379_73136396delCA2625552901 gnomAD v4
14g.73136377C>ACA708424106 dbSNP gnomAD v3 gnomAD v4
14g.73136377C=CA2146453782
14g.73136377C>GCA262598324 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136377C>TCA262598326 dbSNP gnomAD v3 gnomAD v4
14g.73136378C>ACA2625552907 gnomAD v4
14g.73136378C=CA2146453784
14g.73136378C>GCA262598329 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136378C>TCA2146453783 dbSNP
14g.73136379T>CCA2625552910 gnomAD v4
14g.73136380T>ACA2625552912 gnomAD v4
14g.73136380T>CCA2625552913 gnomAD v4
14g.73136380T>GCA2625552914 gnomAD v4
14g.73136381C>ACA2625552915 gnomAD v4
14g.73136381C=CA2146453785
14g.73136382C>ACA262598333 dbSNP gnomAD v3 gnomAD v4
14g.73136382C=CA2146453787
14g.73136382C>GCA2146453788 dbSNP
14g.73136382C>TCA2625552917 gnomAD v4
14g.73136387_73136393dupCA2146453786 dbSNP
14g.73136383T>CCA2625552919 gnomAD v4
14g.73136384C>ACA2625552921 gnomAD v4
14g.73136385C=CA2146453789
14g.73136385C>GCA2625552923 gnomAD v4
14g.73136385C>TCA964616031 dbSNP gnomAD v3 gnomAD v4
14g.73136386T>ACA2802115358
14g.73136386T>CCA2625552925 gnomAD v4
14g.73136386T>GCA262598336 dbSNP
14g.73136386T=CA2146453790
14g.73136387G>ACA2625552926 gnomAD v4
14g.73136387G=CA2146453791
14g.73136387G>TCA2625552927 gnomAD v4
14g.73136388G>ACA2625552932 gnomAD v4
14g.73136388G>TCA2625552930 gnomAD v4
14g.73136388_73136389delinsGCCA2146453792
14g.73136388_73136395dupCA708424114 dbSNP gnomAD v3 gnomAD v4
14g.73136389delCA2146453793 dbSNP
14g.73136389C>ACA2625552938 gnomAD v4
14g.73136389C>TCA2625552937 gnomAD v4
14g.73136393_73136395delCA2625552935 gnomAD v4
14g.73136390T>ACA2625552939 gnomAD v4
14g.73136390T>CCA2146453795 dbSNP gnomAD v4
14g.73136390T=CA2146453794
14g.73136391C>ACA2625552941 gnomAD v4
14g.73136391C>TCA2729829395 dbSNP
14g.73136392C>TCA2625552942 gnomAD v4
14g.73136393T>CCA2625552944 gnomAD v4
14g.73136394C>ACA2625552945 gnomAD v4
14g.73136394C>TCA2547482362
14g.73136395C>ACA2625552948 gnomAD v4
14g.73136395C=CA2146453796
14g.73136395C>GCA2625552949 gnomAD v4
14g.73136395C>TCA708424118 dbSNP gnomAD v4
14g.73136395_73136398delinsCCCTCA2146453797
14g.73136396C>ACA2625552952 gnomAD v4
14g.73136396C>TCA2625552954 gnomAD v4
14g.73136401_73136403delCA614988808 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136397C>ACA2625552958 gnomAD v4
14g.73136397C=CA2146453798
14g.73136397C>TCA262598339 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136398delCA2625552960 gnomAD v4
14g.73136398T>CCA2146453800 dbSNP gnomAD v4
14g.73136398T=CA2146453799
14g.73136399C=CA2146453801
14g.73136399C>TCA2146453802 dbSNP
14g.73136400C>ACA2625552962 gnomAD v4
14g.73136400C>TCA2729829396 dbSNP
14g.73136401delCA2625552965 gnomAD v4
14g.73136401T>CCA2146453804 dbSNP gnomAD v4
14g.73136401T=CA2146453803
14g.73136402C>ACA2625552966 gnomAD v4
14g.73136402C=CA2146453805
14g.73136402C>TCA262598343 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136403C=CA2146453807
14g.73136403C>TCA2146453808 dbSNP gnomAD v4
14g.73136403_73136404delinsCGCA2146453806
14g.73136404delCA262598358 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136404G>ACA262598355 dbSNP gnomAD v3 gnomAD v4
14g.73136404G>CCA2625552998 gnomAD v4
14g.73136404G=CA2146453809
14g.73136404G>TCA262598347 dbSNP gnomAD v3 gnomAD v4
14g.73136405T>CCA2625552999 gnomAD v4
14g.73136405T>GCA2146453810 dbSNP
14g.73136405T=CA2146453811
14g.73136406G>ACA2625553000 gnomAD v4
14g.73136406G>TCA2625553001 gnomAD v4
14g.73136407G>ACA708424145 dbSNP
14g.73136407G=CA2146453812
14g.73136407G>TCA614988809 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136408G>ACA2625553002 gnomAD v4
14g.73136408G>TCA2625553003 gnomAD v4
14g.73136409C>ACA2625553005 gnomAD v4
14g.73136409C=CA2146453813
14g.73136409C>TCA2146453814 dbSNP gnomAD v4
14g.73136410C>ACA2625553006 gnomAD v4
14g.73136410C=CA2146453815
14g.73136410C>TCA262598373 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136411G>ACA2146453817 dbSNP gnomAD v4
14g.73136411G=CA2146453816
14g.73136411G>TCA262598377 dbSNP gnomAD v3 gnomAD v4
14g.73136412G>ACA2625553010 gnomAD v4
14g.73136412G>TCA2625553012 gnomAD v4
14g.73136412_73136413delinsGCCA2146453818
14g.73136413C>ACA2625553014 gnomAD v4
14g.73136413C>TCA2625553015 gnomAD v4
14g.73136414delCA2146453819 dbSNP
14g.73136414_73136417delCA2625553013 gnomAD v4
14g.73136414C>ACA2625553017 gnomAD v4
14g.73136414C=CA2146453820
14g.73136414C>TCA708424149 dbSNP gnomAD v3 gnomAD v4
14g.73136415G>ACA2625553019 gnomAD v4
14g.73136415G>TCA2625553020 gnomAD v4
14g.73136416C>ACA2625553026 gnomAD v4
14g.73136416C=CA2146453821
14g.73136416C>GCA262598380 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136416C>TCA2625553023 gnomAD v4
14g.73136417C=CA2146453822
14g.73136417C>GCA262598385 dbSNP
14g.73136417C>TCA262598393 dbSNP gnomAD v4
14g.73136417_73136418insTCA2802115359PSEN1c.-166-1_-166insT (n.-166-1_-166insT)
14g.73136419_73136422delCA2625553032PSEN1c.-165_-162del (n.-165_-162del)
gnomAD v4
14g.73136419A>GCA2625553036PSEN1c.-165A>G (n.-165A>G)
gnomAD v4
14g.73136420C>ACA2625553038PSEN1c.-164C>A (n.-164C>A)
gnomAD v4
14g.73136420C=CA2146453823PSEN1c.-164C= (n.-164C=)
14g.73136420C>GCA2625553042PSEN1c.-164C>G (n.-164C>G)
gnomAD v4
14g.73136420C>TCA708424154PSEN1c.-164C>T (n.-164C>T)
dbSNP gnomAD v3 gnomAD v4
14g.73136421G>ACA262598396PSEN1c.-163G>A (n.-163G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136421G=CA2146453824PSEN1c.-163G= (n.-163G=)
14g.73136421G>TCA708424158PSEN1c.-163G>T (n.-163G>T)
dbSNP
14g.73136422A=CA2146453825PSEN1c.-162A= (n.-162A=)
14g.73136422A>GCA262598397PSEN1c.-162A>G (n.-162A>G)
dbSNP gnomAD v4
14g.73136422A>TCA708424164PSEN1c.-162A>T (n.-162A>T)
dbSNP gnomAD v4
14g.73136423C>ACA2581180335PSEN1c.-161C>A (n.-161C>A)
gnomAD v4
14g.73136423C=CA2146453826PSEN1c.-161C= (n.-161C=)
14g.73136423C>GCA2581180334PSEN1c.-161C>G (n.-161C>G)
14g.73136423C>TCA10654512PSEN1c.-161C>T (n.-161C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73136424G>ACA2625553059PSEN1c.-128G>A (n.-128G>A)
c.-160G>A (n.-160G>A)
gnomAD v4
14g.73136424G=CA2146453827PSEN1c.-128G= (n.-128G=)
c.-160G= (n.-160G=)
14g.73136424G>TCA262598400PSEN1c.-128G>T (n.-128G>T)
c.-160G>T (n.-160G>T)
dbSNP gnomAD v3 gnomAD v4
14g.73136425C>ACA2625553063PSEN1c.-127C>A (n.-127C>A)
c.-159C>A (n.-159C>A)
gnomAD v4
14g.73136425C>TCA2802115360PSEN1c.-127C>T (n.-127C>T)
c.-159C>T (n.-159C>T)
14g.73136427A>GCA2625553064PSEN1c.-125A>G (n.-125A>G)
c.-292A>G (n.-292A>G)
c.-157A>G (n.-157A>G)
gnomAD v4
14g.73136428G>ACA964616077PSEN1c.-124G>A (n.-124G>A)
c.-291G>A (n.-291G>A)
c.-156G>A (n.-156G>A)
dbSNP gnomAD v3 gnomAD v4
14g.73136428G=CA2146453828PSEN1c.-124G= (n.-124G=)
c.-291G= (n.-291G=)
c.-156G= (n.-156G=)
14g.73136430G>TCA2625553068PSEN1c.-122G>T (n.-122G>T)
c.-289G>T (n.-289G>T)
c.-154G>T (n.-154G>T)
gnomAD v4
14g.73136431C>ACA2625553070PSEN1c.-121C>A (n.-121C>A)
c.-288C>A (n.-288C>A)
c.-153C>A (n.-153C>A)
gnomAD v4
14g.73136431C>TCA2625553071PSEN1c.-121C>T (n.-121C>T)
c.-288C>T (n.-288C>T)
c.-153C>T (n.-153C>T)
gnomAD v4
14g.73136432C>ACA2625553073PSEN1c.-120C>A (n.-120C>A)
c.-287C>A (n.-287C>A)
c.-152C>A (n.-152C>A)
gnomAD v4
14g.73136432C=CA2146453829PSEN1c.-120C= (n.-120C=)
c.-287C= (n.-287C=)
c.-152C= (n.-152C=)
14g.73136432C>TCA262598403PSEN1c.-120C>T (n.-120C>T)
c.-287C>T (n.-287C>T)
c.-152C>T (n.-152C>T)
dbSNP gnomAD v4
14g.73136433G>ACA2625553080PSEN1c.-119G>A (n.-119G>A)
c.-286G>A (n.-286G>A)
c.-151G>A (n.-151G>A)
gnomAD v4
14g.73136433G>CCA2802115361PSEN1c.-119G>C (n.-119G>C)
c.-286G>C (n.-286G>C)
c.-151G>C (n.-151G>C)
14g.73136433G=CA2146453830PSEN1c.-119G= (n.-119G=)
c.-286G= (n.-286G=)
c.-151G= (n.-151G=)
14g.73136433G>TCA262598407PSEN1c.-119G>T (n.-119G>T)
c.-286G>T (n.-286G>T)
c.-151G>T (n.-151G>T)
dbSNP gnomAD v3 gnomAD v4
14g.73136434G>ACA2625553085PSEN1c.-118G>A (n.-118G>A)
c.-285G>A (n.-285G>A)
c.-150G>A (n.-150G>A)
gnomAD v4
14g.73136434G>TCA2510189566PSEN1c.-118G>T (n.-118G>T)
c.-285G>T (n.-285G>T)
c.-150G>T (n.-150G>T)
gnomAD v4
14g.73136435A>GCA2625553092PSEN1c.-117A>G (n.-117A>G)
c.-284A>G (n.-284A>G)
c.-149A>G (n.-149A>G)
c.-273A>G (n.-273A>G)
c.-383A>G (n.-383A>G)
gnomAD v4
14g.73136437A=CA2146453831PSEN1c.-278A= (n.-278A=)
c.-115A= (n.-115A=)
c.-282A= (n.-282A=)
c.-147A= (n.-147A=)
c.-271A= (n.-271A=)
c.-381A= (n.-381A=)
14g.73136437A>GCA262598410PSEN1c.-278A>G (n.-278A>G)
c.-115A>G (n.-115A>G)
c.-282A>G (n.-282A>G)
c.-147A>G (n.-147A>G)
c.-271A>G (n.-271A>G)
c.-381A>G (n.-381A>G)
dbSNP gnomAD v4
14g.73136438_73136441delinsTGACCA2146453832PSEN1c.-277_-274delinsTGAC (n.-277_-274delinsTGAC)
c.-114_-111delinsTGAC (n.-114_-111delinsTGAC)
c.-281_-278delinsTGAC (n.-281_-278delinsTGAC)
c.-146_-143delinsTGAC (n.-146_-143delinsTGAC)
c.-270_-267delinsTGAC (n.-270_-267delinsTGAC)
c.-380_-377delinsTGAC (n.-380_-377delinsTGAC)

Number of alleles fetched