| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177992998_177993000delinsAGT | CA1603814074 | PROP1 | c.390_392delinsACT (p.Ser130=) | |
| 5 | g.177992999G>A | CA448355375 | PROP1 | c.391C>T (p.Leu131=) | ClinVar dbSNP |
| 5 | g.177992999G>C | CA362378823 | PROP1 | c.391C>G (p.Leu131Val) | |
| 5 | g.177992999G= | CA1603814075 | PROP1 | c.391C= (p.Leu131=) | |
| 5 | g.177992999G>T | CA362378824 | PROP1 | c.391C>A (p.Leu131Met) | |
| 5 | g.177993000_177993001del | CA16041002 | PROP1 | c.390_391del (p.Leu131AlafsTer?) | ClinVar dbSNP |
| 5 | g.177993000T>A | CA448355378 | PROP1 | c.390A>T (p.Ser130=) | |
| 5 | g.177993000T>C | CA448355379 | PROP1 | c.390A>G (p.Ser130=) | ClinVar dbSNP |
| 5 | g.177993000T>G | CA448355382 | PROP1 | c.390A>C (p.Ser130=) | ClinVar |
| 5 | g.177993001G>A | CA362378825 | PROP1 | c.389C>T (p.Ser130Leu) | |
| 5 | g.177993001G>C | CA362378826 | PROP1 | c.389C>G (p.Ser130Ter) | |
| 5 | g.177993001G>T | CA362378827 | PROP1 | c.389C>A (p.Ser130Ter) | |
| 5 | g.177993002A= | CA1603814076 | PROP1 | c.388T= (p.Ser130=) | |
| 5 | g.177993002A>C | CA362378830 | PROP1 | c.388T>G (p.Ser130Ala) | |
| 5 | g.177993002A>G | CA362378829 | PROP1 | c.388T>C (p.Ser130Pro) | |
| 5 | g.177993002A>T | CA362378828 | PROP1 | c.388T>A (p.Ser130Thr) | |
| 5 | g.177993002dup | CA913108654 | PROP1 | c.388dup (p.Ser130PhefsTer?) | |
| 5 | g.177993003G>A | CA448355394 | PROP1 | c.387C>T (p.Arg129=) | |
| 5 | g.177993003G>C | CA448355395 | PROP1 | c.387C>G (p.Arg129=) | |
| 5 | g.177993003G>T | CA448355397 | PROP1 | c.387C>A (p.Arg129=) | gnomAD v4 |
| 5 | g.177993005_177993006dup | CA658822671 | PROP1 | c.386_387dup (p.Ser130AlafsTer?) | dbSNP gnomAD v4 |
| 5 | g.177993004C>A | CA362378831 | PROP1 | c.386G>T (p.Arg129Leu) | |
| 5 | g.177993004C= | CA1603814077 | PROP1 | c.386G= (p.Arg129=) | |
| 5 | g.177993004C>G | CA362378832 | PROP1 | c.386G>C (p.Arg129Pro) | |
| 5 | g.177993004C>T | CA3587529 | PROP1 | c.386G>A (p.Arg129His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993005G>A | CA3587530 | PROP1 | c.385C>T (p.Arg129Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993005G>C | CA362378833 | PROP1 | c.385C>G (p.Arg129Gly) | |
| 5 | g.177993005G= | CA1603814078 | PROP1 | c.385C= (p.Arg129=) | |
| 5 | g.177993005G>T | CA362378834 | PROP1 | c.385C>A (p.Arg129Ser) | |
| 5 | g.177993006C>A | CA362378835 | PROP1 | c.384G>T (p.Glu128Asp) | |
| 5 | g.177993006C= | CA1603814079 | PROP1 | c.384G= (p.Glu128=) | |
| 5 | g.177993006C>G | CA3587532 | PROP1 | c.384G>C (p.Glu128Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993006C>T | CA3587531 | PROP1 | c.384G>A (p.Glu128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993007T>A | CA362378836 | PROP1 | c.383A>T (p.Glu128Val) | |
| 5 | g.177993007T>C | CA362378837 | PROP1 | c.383A>G (p.Glu128Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177993007T>G | CA362378838 | PROP1 | c.383A>C (p.Glu128Ala) | |
| 5 | g.177993007T= | CA1603814080 | PROP1 | c.383A= (p.Glu128=) | |
| 5 | g.177993008C>A | CA362378839 | PROP1 | c.382G>T (p.Glu128Ter) | |
| 5 | g.177993008C= | CA1603814081 | PROP1 | c.382G= (p.Glu128=) | |
| 5 | g.177993008C>G | CA362378840 | PROP1 | c.382G>C (p.Glu128Gln) | gnomAD v4 |
| 5 | g.177993008C>T | CA362378841 | PROP1 | c.382G>A (p.Glu128Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177993009T>A | CA362378842 | PROP1 | c.381A>T (p.Gln127His) | |
| 5 | g.177993009T>C | CA448355418 | PROP1 | c.381A>G (p.Gln127=) | |
| 5 | g.177993009T>G | CA362378843 | PROP1 | c.381A>C (p.Gln127His) | |
| 5 | g.177993010T>A | CA362378844 | PROP1 | c.380A>T (p.Gln127Leu) | |
| 5 | g.177993010T>C | CA362378845 | PROP1 | c.380A>G (p.Gln127Arg) | |
| 5 | g.177993010T>G | CA362378846 | PROP1 | c.380A>C (p.Gln127Pro) | |
| 5 | g.177993011G>A | CA362378847 | PROP1 | c.379C>T (p.Gln127Ter) | |
| 5 | g.177993011G>C | CA362378849 | PROP1 | c.379C>G (p.Gln127Glu) | |
| 5 | g.177993011G= | CA1603814082 | PROP1 | c.379C= (p.Gln127=) |