Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.46350360G>CCA46534624EPAS1c.217+3297G>C (p.=)
c.256+3297G>C (p.=)
n.408+3297G>C
dbSNP gnomAD
2g.46350361G>ACA46534628EPAS1c.217+3298G>A (p.=)
c.256+3298G>A (p.=)
n.408+3298G>A
dbSNP
2g.46350362T>GCA769367683EPAS1c.217+3299T>G (p.=)
c.256+3299T>G (p.=)
n.408+3299T>G
2g.46350362delCA46534638EPAS1c.217+3299del (p.=)
c.256+3299del (p.=)
n.408+3299del
dbSNP
2g.46350363T>CCA46534645EPAS1c.217+3300T>C (p.=)
c.256+3300T>C (p.=)
n.408+3300T>C
dbSNP gnomAD
2g.46350368T>CCA46534646EPAS1c.217+3305T>C (p.=)
c.256+3305T>C (p.=)
n.408+3305T>C
dbSNP
2g.46350373delCA769367690EPAS1c.217+3310del (p.=)
c.256+3310del (p.=)
n.408+3310del
dbSNP
2g.46350381C>GCA769367697EPAS1c.217+3318C>G (p.=)
c.256+3318C>G (p.=)
n.408+3318C>G
2g.46350383C>ACA769367700EPAS1c.217+3320C>A (p.=)
c.256+3320C>A (p.=)
n.408+3320C>A
2g.46350383_46350387delCA46534651EPAS1c.217+3320_217+3324del (p.=)
c.256+3320_256+3324del (p.=)
n.408+3320_408+3324del
dbSNP
2g.46350384T>CCA46534661EPAS1c.217+3321T>C (p.=)
c.256+3321T>C (p.=)
n.408+3321T>C
dbSNP gnomAD
2g.46350387A>GCA769367702EPAS1c.217+3324A>G (p.=)
c.256+3324A>G (p.=)
n.408+3324A>G
2g.46350388C>GCA532302614EPAS1c.217+3325C>G (p.=)
c.256+3325C>G (p.=)
n.408+3325C>G
gnomAD
2g.46350391A>GCA1030176506EPAS1c.217+3328A>G (p.=)
c.256+3328A>G (p.=)
n.408+3328A>G
2g.46350392G>ACA46534663EPAS1c.217+3329G>A (p.=)
c.256+3329G>A (p.=)
n.408+3329G>A
dbSNP
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

Number of alleles fetched