| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177992932C>A | CA362378682 | PROP1 | c.458G>T (p.Cys153Phe) | gnomAD v4 |
| 5 | g.177992932C= | CA1603814048 | PROP1 | c.458G= (p.Cys153=) | |
| 5 | g.177992932C>G | CA362378683 | PROP1 | c.458G>C (p.Cys153Ser) | dbSNP |
| 5 | g.177992932C>T | CA362378684 | PROP1 | c.458G>A (p.Cys153Tyr) | gnomAD v4 |
| 5 | g.177992933A>C | CA362378687 | PROP1 | c.457T>G (p.Cys153Gly) | |
| 5 | g.177992933A>G | CA362378686 | PROP1 | c.457T>C (p.Cys153Arg) | |
| 5 | g.177992933A>T | CA362378685 | PROP1 | c.457T>A (p.Cys153Ser) | |
| 5 | g.177992934A= | CA1603814049 | PROP1 | c.456T= (p.Ala152=) | |
| 5 | g.177992934A>C | CA448355101 | PROP1 | c.456T>G (p.Ala152=) | |
| 5 | g.177992934A>G | CA243390 | PROP1 | c.456T>C (p.Ala152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992934A>T | CA448355104 | PROP1 | c.456T>A (p.Ala152=) | |
| 5 | g.177992935G>A | CA362378688 | PROP1 | c.455C>T (p.Ala152Val) | gnomAD v4 |
| 5 | g.177992935G>C | CA362378689 | PROP1 | c.455C>G (p.Ala152Gly) | |
| 5 | g.177992935G>T | CA362378690 | PROP1 | c.455C>A (p.Ala152Asp) | |
| 5 | g.177992936C>A | CA362378691 | PROP1 | c.454G>T (p.Ala152Ser) | |
| 5 | g.177992936C>G | CA362378692 | PROP1 | c.454G>C (p.Ala152Pro) | |
| 5 | g.177992936C>T | CA362378693 | PROP1 | c.454G>A (p.Ala152Thr) | |
| 5 | g.177992937A= | CA1603814050 | PROP1 | c.453T= (p.Thr151=) | |
| 5 | g.177992937A>C | CA448355115 | PROP1 | c.453T>G (p.Thr151=) | dbSNP |
| 5 | g.177992937A>G | CA448355117 | PROP1 | c.453T>C (p.Thr151=) | |
| 5 | g.177992937A>T | CA448355113 | PROP1 | c.453T>A (p.Thr151=) | |
| 5 | g.177992938G>A | CA3587523 | PROP1 | c.452C>T (p.Thr151Ile) | dbSNP ExAC gnomAD v2 |
| 5 | g.177992938G>C | CA362378694 | PROP1 | c.452C>G (p.Thr151Ser) | |
| 5 | g.177992938G= | CA1603814051 | PROP1 | c.452C= (p.Thr151=) | |
| 5 | g.177992938G>T | CA362378695 | PROP1 | c.452C>A (p.Thr151Asn) | |
| 5 | g.177992939T>A | CA362378696 | PROP1 | c.451A>T (p.Thr151Ser) | |
| 5 | g.177992939T>C | CA362378697 | PROP1 | c.451A>G (p.Thr151Ala) | gnomAD v4 |
| 5 | g.177992939T>G | CA362378698 | PROP1 | c.451A>C (p.Thr151Pro) | |
| 5 | g.177992940G>A | CA448355127 | PROP1 | c.450C>T (p.Ser150=) | |
| 5 | g.177992940G>C | CA448355128 | PROP1 | c.450C>G (p.Ser150=) | |
| 5 | g.177992940G>T | CA448355130 | PROP1 | c.450C>A (p.Ser150=) | |
| 5 | g.177992941G>A | CA362378700 | PROP1 | c.449C>T (p.Ser150Phe) | gnomAD v4 |
| 5 | g.177992941G>C | CA362378701 | PROP1 | c.449C>G (p.Ser150Cys) | |
| 5 | g.177992941G>T | CA362378699 | PROP1 | c.449C>A (p.Ser150Tyr) | |
| 5 | g.177992942A= | CA1603814052 | PROP1 | c.448T= (p.Ser150=) | |
| 5 | g.177992942A>C | CA362378704 | PROP1 | c.448T>G (p.Ser150Ala) | |
| 5 | g.177992942A>G | CA362378702 | PROP1 | c.448T>C (p.Ser150Pro) | |
| 5 | g.177992942A>T | CA362378703 | PROP1 | c.448T>A (p.Ser150Thr) | dbSNP |
| 5 | g.177992943C>A | CA362378705 | PROP1 | c.447G>T (p.Glu149Asp) | |
| 5 | g.177992943C= | CA1603814053 | PROP1 | c.447G= (p.Glu149=) | |
| 5 | g.177992943C>G | CA362378706 | PROP1 | c.447G>C (p.Glu149Asp) | |
| 5 | g.177992943C>T | CA3587524 | PROP1 | c.447G>A (p.Glu149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992944T>A | CA362378707 | PROP1 | c.446A>T (p.Glu149Val) | |
| 5 | g.177992944T>C | CA362378708 | PROP1 | c.446A>G (p.Glu149Gly) | gnomAD v4 |
| 5 | g.177992944T>G | CA362378709 | PROP1 | c.446A>C (p.Glu149Ala) | |
| 5 | g.177992945C>A | CA362378710 | PROP1 | c.445G>T (p.Glu149Ter) | |
| 5 | g.177992945C>G | CA362378711 | PROP1 | c.445G>C (p.Glu149Gln) | |
| 5 | g.177992945C>T | CA362378712 | PROP1 | c.445G>A (p.Glu149Lys) | |
| 5 | g.177992946T>A | CA448355146 | PROP1 | c.444A>T (p.Pro148=) | |
| 5 | g.177992946T>C | CA3587525 | PROP1 | c.444A>G (p.Pro148=) | dbSNP ExAC gnomAD v2 gnomAD v4 |