| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177992899A>C | CA362378620 | PROP1 | c.491T>G (p.Val164Gly) | |
| 5 | g.177992899A>G | CA362378619 | PROP1 | c.491T>C (p.Val164Ala) | |
| 5 | g.177992899A>T | CA362378618 | PROP1 | c.491T>A (p.Val164Glu) | |
| 5 | g.177992900C>A | CA362378623 | PROP1 | c.490G>T (p.Val164Leu) | |
| 5 | g.177992900C>G | CA362378621 | PROP1 | c.490G>C (p.Val164Leu) | |
| 5 | g.177992900C>T | CA362378622 | PROP1 | c.490G>A (p.Val164Met) | |
| 5 | g.177992900_177992906delinsCTGGTGG | CA1603814029 | PROP1 | c.484_490delinsCCACCAG (p.Pro162=) | |
| 5 | g.177992901T>A | CA448354954 | PROP1 | c.489A>T (p.Pro163=) | |
| 5 | g.177992901T>C | CA448354956 | PROP1 | c.489A>G (p.Pro163=) | |
| 5 | g.177992901T>G | CA448354951 | PROP1 | c.489A>C (p.Pro163=) | |
| 5 | g.177992912_177992914dup | CA3587515 | PROP1 | c.487_489dup (p.Pro163_Val164insPro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992912_177992914del | CA3587514 | PROP1 | c.487_489del (p.Pro163del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992909_177992914del | CA808117610 | PROP1 | c.484_489del (p.Pro162_Pro163del) | dbSNP |
| 5 | g.177992902G>A | CA362378624 | PROP1 | c.488C>T (p.Pro163Leu) | |
| 5 | g.177992902G>C | CA362378625 | PROP1 | c.488C>G (p.Pro163Arg) | |
| 5 | g.177992902G= | CA1603814030 | PROP1 | c.488C= (p.Pro163=) | |
| 5 | g.177992902G>T | CA3587516 | PROP1 | c.488C>A (p.Pro163Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992903G>A | CA362378626 | PROP1 | c.487C>T (p.Pro163Ser) | |
| 5 | g.177992903G>C | CA362378627 | PROP1 | c.487C>G (p.Pro163Ala) | |
| 5 | g.177992903G>T | CA362378628 | PROP1 | c.487C>A (p.Pro163Thr) | |
| 5 | g.177992904T>A | CA448354965 | PROP1 | c.486A>T (p.Pro162=) | |
| 5 | g.177992904T>C | CA448354968 | PROP1 | c.486A>G (p.Pro162=) | |
| 5 | g.177992904T>G | CA448354970 | PROP1 | c.486A>C (p.Pro162=) | |
| 5 | g.177992905G>A | CA3587517 | PROP1 | c.485C>T (p.Pro162Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992905G>C | CA362378629 | PROP1 | c.485C>G (p.Pro162Arg) | |
| 5 | g.177992905G= | CA1603814031 | PROP1 | c.485C= (p.Pro162=) | |
| 5 | g.177992905G>T | CA362378630 | PROP1 | c.485C>A (p.Pro162Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177992906G>A | CA362378633 | PROP1 | c.484C>T (p.Pro162Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992906G>C | CA362378631 | PROP1 | c.484C>G (p.Pro162Ala) | |
| 5 | g.177992906G= | CA1603814032 | PROP1 | c.484C= (p.Pro162=) | |
| 5 | g.177992906G>T | CA362378632 | PROP1 | c.484C>A (p.Pro162Thr) | |
| 5 | g.177992907T>A | CA448354980 | PROP1 | c.483A>T (p.Pro161=) | |
| 5 | g.177992907T>C | CA448354984 | PROP1 | c.483A>G (p.Pro161=) | |
| 5 | g.177992907T>G | CA448354981 | PROP1 | c.483A>C (p.Pro161=) | |
| 5 | g.177992907T= | CA1603814033 | PROP1 | c.483A= (p.Pro161=) | |
| 5 | g.177992908G>A | CA132897251 | PROP1 | c.482C>T (p.Pro161Leu) | dbSNP |
| 5 | g.177992908G>C | CA362378634 | PROP1 | c.482C>G (p.Pro161Arg) | gnomAD v4 |
| 5 | g.177992908G= | CA1603814035 | PROP1 | c.482C= (p.Pro161=) | |
| 5 | g.177992908G>T | CA362378635 | PROP1 | c.482C>A (p.Pro161Gln) | gnomAD v4 |
| 5 | g.177992909dup | CA1603814034 | PROP1 | c.482dup (p.Pro162ThrfsTer?) | dbSNP |
| 5 | g.177992909G>A | CA362378636 | PROP1 | c.481C>T (p.Pro161Ser) | |
| 5 | g.177992909G>C | CA362378637 | PROP1 | c.481C>G (p.Pro161Ala) | |
| 5 | g.177992909G>T | CA362378638 | PROP1 | c.481C>A (p.Pro161Thr) | |
| 5 | g.177992910T>A | CA448354994 | PROP1 | c.480A>T (p.Pro160=) | COSMIC |
| 5 | g.177992910T>C | CA448354996 | PROP1 | c.480A>G (p.Pro160=) | |
| 5 | g.177992910T>G | CA448354998 | PROP1 | c.480A>C (p.Pro160=) | |
| 5 | g.177992911G>A | CA362378639 | PROP1 | c.479C>T (p.Pro160Leu) | dbSNP |
| 5 | g.177992911G>C | CA362378640 | PROP1 | c.479C>G (p.Pro160Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992911G= | CA1603814036 | PROP1 | c.479C= (p.Pro160=) | |
| 5 | g.177992911G>T | CA362378641 | PROP1 | c.479C>A (p.Pro160Gln) |