Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.46350398C>TCA46534665EPAS1c.217+3335C>T (p.=)
c.256+3335C>T (p.=)
n.408+3335C>T
dbSNP
2g.46350399G>ACA46534669EPAS1c.217+3336G>A (p.=)
c.256+3336G>A (p.=)
n.408+3336G>A
dbSNP gnomAD
2g.46350403C>GCA769367707EPAS1c.217+3340C>G (p.=)
c.256+3340C>G (p.=)
n.408+3340C>G
2g.46350411delCA1030176510EPAS1c.217+3348del (p.=)
c.256+3348del (p.=)
n.408+3348del
2g.46350417C>ACA769367708EPAS1c.217+3354C>A (p.=)
c.256+3354C>A (p.=)
n.408+3354C>A
2g.46350417C>TCA46534670EPAS1c.217+3354C>T (p.=)
c.256+3354C>T (p.=)
n.408+3354C>T
dbSNP
2g.46350424C>TCA769367709EPAS1c.217+3361C>T (p.=)
c.256+3361C>T (p.=)
n.408+3361C>T
2g.46350426G>ACA46534671EPAS1c.217+3363G>A (p.=)
c.256+3363G>A (p.=)
n.408+3363G>A
dbSNP gnomAD
2g.46350431G>ACA46534672EPAS1c.217+3368G>A (p.=)
c.256+3368G>A (p.=)
n.408+3368G>A
dbSNP
2g.46350431G>TCA769367716EPAS1c.217+3368G>T (p.=)
c.256+3368G>T (p.=)
n.408+3368G>T
2g.46350434T>CCA532302615EPAS1c.217+3371T>C (p.=)
c.256+3371T>C (p.=)
n.408+3371T>C
gnomAD
2g.46350442T>CCA769367739EPAS1c.217+3379T>C (p.=)
c.256+3379T>C (p.=)
n.408+3379T>C
2g.46350443T>CCA1030176515EPAS1c.217+3380T>C (p.=)
c.256+3380T>C (p.=)
n.408+3380T>C
2g.46350457C>GCA532302617EPAS1c.217+3394C>G (p.=)
c.256+3394C>G (p.=)
n.408+3394C>G
gnomAD
2g.46350458_46350459dupCA1030176519EPAS1c.217+3395_217+3396dup (p.=)
c.256+3395_256+3396dup (p.=)
n.408+3395_408+3396dup
2g.46350460C>ACA1030176520EPAS1c.217+3397C>A (p.=)
c.256+3397C>A (p.=)
n.408+3397C>A
2g.46350460C>TCA532302618EPAS1c.217+3397C>T (p.=)
c.256+3397C>T (p.=)
n.408+3397C>T
gnomAD
2g.46350461G>ACA769367762EPAS1c.217+3398G>A (p.=)
c.256+3398G>A (p.=)
n.408+3398G>A
2g.46350461G>CCA1030176525EPAS1c.217+3398G>C (p.=)
c.256+3398G>C (p.=)
n.408+3398G>C
2g.46350464G>ACA769367763EPAS1c.217+3401G>A (p.=)
c.256+3401G>A (p.=)
n.408+3401G>A
2g.46350470T>CCA46534677EPAS1c.217+3407T>C (p.=)
c.256+3407T>C (p.=)
n.408+3407T>C
dbSNP
2g.46350482G>ACA46534681EPAS1c.217+3419G>A (p.=)
c.256+3419G>A (p.=)
n.408+3419G>A
dbSNP
2g.46350483T>GCA46534684EPAS1c.217+3420T>G (p.=)
c.256+3420T>G (p.=)
n.408+3420T>G
dbSNP
2g.46350484C>ACA46534688EPAS1c.217+3421C>A (p.=)
c.256+3421C>A (p.=)
n.408+3421C>A
dbSNP
2g.46350484C>TCA769367775EPAS1c.217+3421C>T (p.=)
c.256+3421C>T (p.=)
n.408+3421C>T
2g.46350486G>TCA769367780EPAS1c.217+3423G>T (p.=)
c.256+3423G>T (p.=)
n.408+3423G>T
2g.46350488G>ACA46534691EPAS1c.217+3425G>A (p.=)
c.256+3425G>A (p.=)
n.408+3425G>A
dbSNP gnomAD
2g.46350493C>ACA46534695EPAS1c.217+3430C>A (p.=)
c.256+3430C>A (p.=)
n.408+3430C>A
dbSNP
2g.46350493C>TCA46534699EPAS1c.217+3430C>T (p.=)
c.256+3430C>T (p.=)
n.408+3430C>T
dbSNP
2g.46350494G>ACA46534702EPAS1c.217+3431G>A (p.=)
c.256+3431G>A (p.=)
n.408+3431G>A
dbSNP
2g.46350494G>TCA46534707EPAS1c.217+3431G>T (p.=)
c.256+3431G>T (p.=)
n.408+3431G>T
dbSNP

Number of alleles fetched