Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.46350495A>TCA769367790EPAS1c.217+3432A>T (p.=)
c.256+3432A>T (p.=)
n.408+3432A>T
2g.46350495_46350497delCA769367789EPAS1c.217+3432_217+3434del (p.=)
c.256+3432_256+3434del (p.=)
n.408+3432_408+3434del
dbSNP
2g.46350496T>CCA1030176534EPAS1c.217+3433T>C (p.=)
c.256+3433T>C (p.=)
n.408+3433T>C
2g.46350500G>ACA46534709EPAS1c.217+3437G>A (p.=)
c.256+3437G>A (p.=)
n.408+3437G>A
dbSNP
2g.46350502T>CCA769367794EPAS1c.217+3439T>C (p.=)
c.256+3439T>C (p.=)
n.408+3439T>C
2g.46350504C>TCA1030176536EPAS1c.217+3441C>T (p.=)
c.256+3441C>T (p.=)
n.408+3441C>T
2g.46350505G>ACA11185014EPAS1c.217+3442G>A (p.=)
c.256+3442G>A (p.=)
n.408+3442G>A
dbSNP gnomAD
2g.46350506T>ACA46534717EPAS1c.217+3443T>A (p.=)
c.256+3443T>A (p.=)
n.408+3443T>A
dbSNP
2g.46350509C>TCA769367796EPAS1c.217+3446C>T (p.=)
c.256+3446C>T (p.=)
n.408+3446C>T
2g.46350510A>GCA46534721EPAS1c.217+3447A>G (p.=)
c.256+3447A>G (p.=)
n.408+3447A>G
dbSNP gnomAD
2g.46350528C>TCA769367800EPAS1c.217+3465C>T (p.=)
c.256+3465C>T (p.=)
n.408+3465C>T
2g.46350529A>GCA769367818EPAS1c.217+3466A>G (p.=)
c.256+3466A>G (p.=)
n.408+3466A>G
2g.46350531T>CCA46534726EPAS1c.217+3468T>C (p.=)
c.256+3468T>C (p.=)
n.408+3468T>C
dbSNP
2g.46350539T>CCA769367821EPAS1c.217+3476T>C (p.=)
c.256+3476T>C (p.=)
n.408+3476T>C
2g.46350544T>CCA46534730EPAS1c.217+3481T>C (p.=)
c.256+3481T>C (p.=)
n.408+3481T>C
dbSNP
2g.46350545T>ACA46534741EPAS1c.217+3482T>A (p.=)
c.256+3482T>A (p.=)
n.408+3482T>A
dbSNP
2g.46350554C>TCA769367828EPAS1c.217+3491C>T (p.=)
c.256+3491C>T (p.=)
n.408+3491C>T
2g.46350555G>ACA46534749EPAS1c.217+3492G>A (p.=)
c.256+3492G>A (p.=)
n.408+3492G>A
dbSNP gnomAD
2g.46350555G>CCA532302623EPAS1c.217+3492G>C (p.=)
c.256+3492G>C (p.=)
n.408+3492G>C
gnomAD
2g.46350559G>CCA646913251EPAS1c.217+3496G>C (p.=)
c.256+3496G>C (p.=)
n.408+3496G>C
COSMIC

Number of alleles fetched