Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177994151_177994152del | CA214191 | PROP1 | c.301_302del (p.Leu102CysfsTer8) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994151T>A | CA447990785 | PROP1 | c.297A>T (p.Arg99=) | |
5 | g.177994151T>C | CA447990782 | PROP1 | c.297A>G (p.Arg99=) | |
5 | g.177994151T>G | CA447990783 | PROP1 | c.297A>C (p.Arg99=) | |
5 | g.177994152C>A | CA362379034 | PROP1 | c.296G>T (p.Arg99Leu) | |
5 | g.177994152C= | CA1603814535 | PROP1 | c.296G= (p.Arg99=) | |
5 | g.177994152C>G | CA362379035 | PROP1 | c.296G>C (p.Arg99Pro) | |
5 | g.177994152C>T | CA340737 | PROP1 | c.296G>A (p.Arg99Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994153G>A | CA340735 | PROP1 | c.295C>T (p.Arg99Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.177994153G>C | CA362379036 | PROP1 | c.295C>G (p.Arg99Gly) | |
5 | g.177994153G= | CA1603814536 | PROP1 | c.295C= (p.Arg99=) | |
5 | g.177994153G>T | CA447990790 | PROP1 | c.295C>A (p.Arg99=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177994154G>A | CA447990793 | PROP1 | c.294C>T (p.Ala98=) | gnomAD v4 |
5 | g.177994154G>C | CA447990795 | PROP1 | c.294C>G (p.Ala98=) | |
5 | g.177994154G>T | CA447990796 | PROP1 | c.294C>A (p.Ala98=) | |
5 | g.177994155G>A | CA362379037 | PROP1 | c.293C>T (p.Ala98Val) | dbSNP |
5 | g.177994155G>C | CA362379038 | PROP1 | c.293C>G (p.Ala98Gly) | |
5 | g.177994155G= | CA1603814537 | PROP1 | c.293C= (p.Ala98=) | |
5 | g.177994155G>T | CA362379039 | PROP1 | c.293C>A (p.Ala98Asp) | gnomAD v4 |
5 | g.177994156C>A | CA362379040 | PROP1 | c.292G>T (p.Ala98Ser) | |
5 | g.177994156C= | CA1603814538 | PROP1 | c.292G= (p.Ala98=) | |
5 | g.177994156C>G | CA362379041 | PROP1 | c.292G>C (p.Ala98Pro) | |
5 | g.177994156C>T | CA362379042 | PROP1 | c.292G>A (p.Ala98Thr) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177994157C>A | CA362379045 | PROP1 | c.291G>T (p.Trp97Cys) | |
5 | g.177994157C>G | CA362379044 | PROP1 | c.291G>C (p.Trp97Cys) | |
5 | g.177994157C>T | CA362379043 | PROP1 | c.291G>A (p.Trp97Ter) | |
5 | g.177994158C>A | CA362379047 | PROP1 | c.290G>T (p.Trp97Leu) | |
5 | g.177994158C>G | CA362379046 | PROP1 | c.290G>C (p.Trp97Ser) | |
5 | g.177994158C>T | CA362379048 | PROP1 | c.290G>A (p.Trp97Ter) | |
5 | g.177994158_177994160delinsCAG | CA1603814539 | PROP1 | c.288_290delinsCTG (p.Ile96=) | |
5 | g.177994159A>C | CA362379049 | PROP1 | c.289T>G (p.Trp97Gly) | |
5 | g.177994159A>G | CA362379050 | PROP1 | c.289T>C (p.Trp97Arg) | |
5 | g.177994159A>T | CA362379051 | PROP1 | c.289T>A (p.Trp97Arg) | |
5 | g.177994160_177994161del | CA16041004 | PROP1 | c.288_289del (p.Ile96MetfsTer14) | ClinVar dbSNP |
5 | g.177994160G>A | CA447991437 | PROP1 | c.288C>T (p.Ile96=) | |
5 | g.177994160G>C | CA362379052 | PROP1 | c.288C>G (p.Ile96Met) | |
5 | g.177994160G>T | CA447991436 | PROP1 | c.288C>A (p.Ile96=) | |
5 | g.177994161A>C | CA362379055 | PROP1 | c.287T>G (p.Ile96Ser) | |
5 | g.177994161A>G | CA362379054 | PROP1 | c.287T>C (p.Ile96Thr) | |
5 | g.177994161A>T | CA362379053 | PROP1 | c.287T>A (p.Ile96Asn) | |
5 | g.177994162T>A | CA362379056 | PROP1 | c.286A>T (p.Ile96Phe) | |
5 | g.177994162T>C | CA362379057 | PROP1 | c.286A>G (p.Ile96Val) | |
5 | g.177994162T>G | CA362379058 | PROP1 | c.286A>C (p.Ile96Leu) | gnomAD v4 |
5 | g.177994163G>A | CA3587566 | PROP1 | c.285C>T (p.Asp95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994163G>C | CA362379059 | PROP1 | c.285C>G (p.Asp95Glu) | |
5 | g.177994163G= | CA1603814540 | PROP1 | c.285C= (p.Asp95=) | |
5 | g.177994163G>T | CA362379060 | PROP1 | c.285C>A (p.Asp95Glu) | |
5 | g.177994164T>A | CA362379063 | PROP1 | c.284A>T (p.Asp95Val) | |
5 | g.177994164T>C | CA362379061 | PROP1 | c.284A>G (p.Asp95Gly) | |
5 | g.177994164T>G | CA362379062 | PROP1 | c.284A>C (p.Asp95Ala) |