| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.46350505G>A | CA11185014 | EPAS1 | c.217+3442G>A (p.=) c.256+3442G>A (p.=) n.408+3442G>A | dbSNP gnomAD |
| 2 | g.46350506T>A | CA46534717 | EPAS1 | c.217+3443T>A (p.=) c.256+3443T>A (p.=) n.408+3443T>A | dbSNP |
| 2 | g.46350509C>T | CA769367796 | EPAS1 | c.217+3446C>T (p.=) c.256+3446C>T (p.=) n.408+3446C>T | |
| 2 | g.46350510A>G | CA46534721 | EPAS1 | c.217+3447A>G (p.=) c.256+3447A>G (p.=) n.408+3447A>G | dbSNP gnomAD |
| 2 | g.46350528C>T | CA769367800 | EPAS1 | c.217+3465C>T (p.=) c.256+3465C>T (p.=) n.408+3465C>T | |
| 2 | g.46350529A>G | CA769367818 | EPAS1 | c.217+3466A>G (p.=) c.256+3466A>G (p.=) n.408+3466A>G | |
| 2 | g.46350531T>C | CA46534726 | EPAS1 | c.217+3468T>C (p.=) c.256+3468T>C (p.=) n.408+3468T>C | dbSNP |
| 2 | g.46350539T>C | CA769367821 | EPAS1 | c.217+3476T>C (p.=) c.256+3476T>C (p.=) n.408+3476T>C | |
| 2 | g.46350544T>C | CA46534730 | EPAS1 | c.217+3481T>C (p.=) c.256+3481T>C (p.=) n.408+3481T>C | dbSNP |
| 2 | g.46350545T>A | CA46534741 | EPAS1 | c.217+3482T>A (p.=) c.256+3482T>A (p.=) n.408+3482T>A | dbSNP |
| 2 | g.46350554C>T | CA769367828 | EPAS1 | c.217+3491C>T (p.=) c.256+3491C>T (p.=) n.408+3491C>T | |
| 2 | g.46350555G>A | CA46534749 | EPAS1 | c.217+3492G>A (p.=) c.256+3492G>A (p.=) n.408+3492G>A | dbSNP gnomAD |
| 2 | g.46350555G>C | CA532302623 | EPAS1 | c.217+3492G>C (p.=) c.256+3492G>C (p.=) n.408+3492G>C | gnomAD |
| 2 | g.46350559G>C | CA646913251 | EPAS1 | c.217+3496G>C (p.=) c.256+3496G>C (p.=) n.408+3496G>C | COSMIC |
| 2 | g.46350565G>C | CA1030176544 | EPAS1 | c.217+3502G>C (p.=) c.256+3502G>C (p.=) n.408+3502G>C | |
| 2 | g.46350566G>T | CA1030176551 | EPAS1 | c.217+3503G>T (p.=) c.256+3503G>T (p.=) n.408+3503G>T | |
| 2 | g.46350568C>A | CA46534754 | EPAS1 | c.217+3505C>A (p.=) c.256+3505C>A (p.=) n.408+3505C>A | dbSNP gnomAD |
| 2 | g.46350572_46350573del | CA769367832 | EPAS1 | c.217+3509_217+3510del (p.=) c.256+3509_256+3510del (p.=) n.408+3509_408+3510del | dbSNP |
| 2 | g.46350575C>T | CA1030176555 | EPAS1 | c.217+3512C>T (p.=) c.256+3512C>T (p.=) n.408+3512C>T | |
| 2 | g.46350577C>G | CA46534757 | EPAS1 | c.217+3514C>G (p.=) c.256+3514C>G (p.=) n.408+3514C>G | dbSNP gnomAD |
| 2 | g.46350577C>T | CA1030176559 | EPAS1 | c.217+3514C>T (p.=) c.256+3514C>T (p.=) n.408+3514C>T | |
| 2 | g.46350578T>A | CA769367833 | EPAS1 | c.217+3515T>A (p.=) c.256+3515T>A (p.=) n.408+3515T>A | |
| 2 | g.46350581_46350582insG | CA1030176562 | EPAS1 | c.217+3518_217+3519insG (p.=) c.256+3518_256+3519insG (p.=) n.408+3518_408+3519insG | |
| 2 | g.46350583C>G | CA532302626 | EPAS1 | c.217+3520C>G (p.=) c.256+3520C>G (p.=) n.408+3520C>G | gnomAD |
| 2 | g.46350583C>T | CA46534789 | EPAS1 | c.217+3520C>T (p.=) c.256+3520C>T (p.=) n.408+3520C>T | dbSNP |
| 2 | g.46350585G>A | CA532302627 | EPAS1 | c.217+3522G>A (p.=) c.256+3522G>A (p.=) n.408+3522G>A | gnomAD |
| 2 | g.46350592C>T | CA46534793 | EPAS1 | c.217+3529C>T (p.=) c.256+3529C>T (p.=) n.408+3529C>T | dbSNP gnomAD |
| 2 | g.46350593G>A | CA769367841 | EPAS1 | c.217+3530G>A (p.=) c.256+3530G>A (p.=) n.408+3530G>A | |
| 2 | g.46350593G>T | CA769367842 | EPAS1 | c.217+3530G>T (p.=) c.256+3530G>T (p.=) n.408+3530G>T |