| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177995831T>A | CA362379427 | PROP1 | c.103A>T (p.Thr35Ser) | |
| 5 | g.177995831T>C | CA362379428 | PROP1 | c.103A>G (p.Thr35Ala) | |
| 5 | g.177995831T>G | CA362379429 | PROP1 | c.103A>C (p.Thr35Pro) | |
| 5 | g.177995832G>A | CA447992851 | PROP1 | c.102C>T (p.Thr34=) | |
| 5 | g.177995832G>C | CA447992852 | PROP1 | c.102C>G (p.Thr34=) | |
| 5 | g.177995832G>T | CA447992850 | PROP1 | c.102C>A (p.Thr34=) | |
| 5 | g.177995833G>A | CA362379430 | PROP1 | c.101C>T (p.Thr34Ile) | gnomAD v4 |
| 5 | g.177995833G>C | CA362379431 | PROP1 | c.101C>G (p.Thr34Ser) | |
| 5 | g.177995833G>T | CA362379432 | PROP1 | c.101C>A (p.Thr34Asn) | |
| 5 | g.177995834T>A | CA362379433 | PROP1 | c.100A>T (p.Thr34Ser) | |
| 5 | g.177995834T>C | CA362379434 | PROP1 | c.100A>G (p.Thr34Ala) | |
| 5 | g.177995834T>G | CA362379435 | PROP1 | c.100A>C (p.Thr34Pro) | |
| 5 | g.177995835G>A | CA447992869 | PROP1 | c.99C>T (p.Thr33=) | ClinVar dbSNP |
| 5 | g.177995835G>C | CA447992867 | PROP1 | c.99C>G (p.Thr33=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995835G= | CA1603815328 | PROP1 | c.99C= (p.Thr33=) | |
| 5 | g.177995835G>T | CA447992865 | PROP1 | c.99C>A (p.Thr33=) | ClinVar |
| 5 | g.177995836G>A | CA362379437 | PROP1 | c.98C>T (p.Thr33Ile) | |
| 5 | g.177995836G>C | CA362379436 | PROP1 | c.98C>G (p.Thr33Ser) | |
| 5 | g.177995836G= | CA1603815329 | PROP1 | c.98C= (p.Thr33=) | |
| 5 | g.177995836G>T | CA132899297 | PROP1 | c.98C>A (p.Thr33Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177995837T>A | CA362379438 | PROP1 | c.97A>T (p.Thr33Ser) | gnomAD v4 |
| 5 | g.177995837T>C | CA362379439 | PROP1 | c.97A>G (p.Thr33Ala) | dbSNP |
| 5 | g.177995837T>G | CA362379440 | PROP1 | c.97A>C (p.Thr33Pro) | |
| 5 | g.177995837T= | CA1603815330 | PROP1 | c.97A= (p.Thr33=) | |
| 5 | g.177995838C>A | CA3587639 | PROP1 | c.96G>T (p.Pro32=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177995838C= | CA1603815331 | PROP1 | c.96G= (p.Pro32=) | |
| 5 | g.177995838C>G | CA447992878 | PROP1 | c.96G>C (p.Pro32=) | gnomAD v4 |
| 5 | g.177995838C>T | CA238853 | PROP1 | c.96G>A (p.Pro32=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995839G>A | CA3587640 | PROP1 | c.95C>T (p.Pro32Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177995839G>C | CA362379441 | PROP1 | c.95C>G (p.Pro32Arg) | gnomAD v4 |
| 5 | g.177995839G= | CA1603815332 | PROP1 | c.95C= (p.Pro32=) | |
| 5 | g.177995839G>T | CA362379442 | PROP1 | c.95C>A (p.Pro32Gln) | |
| 5 | g.177995842del | CA2580074149 | PROP1 | c.95del (p.Pro32ArgfsTer?) | ClinVar gnomAD v4 |
| 5 | g.177995840G>A | CA362379443 | PROP1 | c.94C>T (p.Pro32Ser) | |
| 5 | g.177995840G>C | CA362379444 | PROP1 | c.94C>G (p.Pro32Ala) | gnomAD v4 |
| 5 | g.177995840G>T | CA362379445 | PROP1 | c.94C>A (p.Pro32Thr) | |
| 5 | g.177995841G>A | CA3587641 | PROP1 | c.93C>T (p.Thr31=) | ClinVar dbSNP ExAC gnomAD v4 |
| 5 | g.177995841G>C | CA447992892 | PROP1 | c.93C>G (p.Thr31=) | |
| 5 | g.177995841G= | CA1603815333 | PROP1 | c.93C= (p.Thr31=) | |
| 5 | g.177995841G>T | CA447992895 | PROP1 | c.93C>A (p.Thr31=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177995842G>A | CA362379446 | PROP1 | c.92C>T (p.Thr31Ile) | gnomAD v4 |
| 5 | g.177995842G>C | CA362379448 | PROP1 | c.92C>G (p.Thr31Ser) | |
| 5 | g.177995842G= | CA1603815334 | PROP1 | c.92C= (p.Thr31=) | |
| 5 | g.177995842G>T | CA362379447 | PROP1 | c.92C>A (p.Thr31Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177995843T>A | CA362379449 | PROP1 | c.91A>T (p.Thr31Ser) | |
| 5 | g.177995843T>C | CA362379451 | PROP1 | c.91A>G (p.Thr31Ala) | gnomAD v4 |
| 5 | g.177995843T>G | CA362379450 | PROP1 | c.91A>C (p.Thr31Pro) | dbSNP |
| 5 | g.177995843T= | CA1603815335 | PROP1 | c.91A= (p.Thr31=) | |
| 5 | g.177995843dup | CA808119911 | PROP1 | c.91dup (p.Thr31AsnfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177995844C>A | CA447992906 | PROP1 | c.90G>T (p.Gly30=) |