Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.46350565G>CCA1030176544EPAS1c.217+3502G>C (p.=)
c.256+3502G>C (p.=)
n.408+3502G>C
2g.46350566G>TCA1030176551EPAS1c.217+3503G>T (p.=)
c.256+3503G>T (p.=)
n.408+3503G>T
2g.46350568C>ACA46534754EPAS1c.217+3505C>A (p.=)
c.256+3505C>A (p.=)
n.408+3505C>A
dbSNP gnomAD
2g.46350572_46350573delCA769367832EPAS1c.217+3509_217+3510del (p.=)
c.256+3509_256+3510del (p.=)
n.408+3509_408+3510del
dbSNP
2g.46350575C>TCA1030176555EPAS1c.217+3512C>T (p.=)
c.256+3512C>T (p.=)
n.408+3512C>T
2g.46350577C>GCA46534757EPAS1c.217+3514C>G (p.=)
c.256+3514C>G (p.=)
n.408+3514C>G
dbSNP gnomAD
2g.46350577C>TCA1030176559EPAS1c.217+3514C>T (p.=)
c.256+3514C>T (p.=)
n.408+3514C>T
2g.46350578T>ACA769367833EPAS1c.217+3515T>A (p.=)
c.256+3515T>A (p.=)
n.408+3515T>A
2g.46350581_46350582insGCA1030176562EPAS1c.217+3518_217+3519insG (p.=)
c.256+3518_256+3519insG (p.=)
n.408+3518_408+3519insG
2g.46350583C>GCA532302626EPAS1c.217+3520C>G (p.=)
c.256+3520C>G (p.=)
n.408+3520C>G
gnomAD
2g.46350583C>TCA46534789EPAS1c.217+3520C>T (p.=)
c.256+3520C>T (p.=)
n.408+3520C>T
dbSNP
2g.46350585G>ACA532302627EPAS1c.217+3522G>A (p.=)
c.256+3522G>A (p.=)
n.408+3522G>A
gnomAD
2g.46350592C>TCA46534793EPAS1c.217+3529C>T (p.=)
c.256+3529C>T (p.=)
n.408+3529C>T
dbSNP gnomAD
2g.46350593G>ACA769367841EPAS1c.217+3530G>A (p.=)
c.256+3530G>A (p.=)
n.408+3530G>A
2g.46350593G>TCA769367842EPAS1c.217+3530G>T (p.=)
c.256+3530G>T (p.=)
n.408+3530G>T

Number of alleles fetched