| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.146339673_146340072delinsGG | CA2573139233 | POU4F3 | c.246_645delinsGG (p.Met83GlufsTer?) | ClinVar dbSNP |
| 5 | g.146339829T>A | CA447097649 | POU4F3 | c.402T>A (p.Ala134=) | |
| 5 | g.146339829T>C | CA447097650 | POU4F3 | c.402T>C (p.Ala134=) | |
| 5 | g.146339829T>G | CA447097651 | POU4F3 | c.402T>G (p.Ala134=) | |
| 5 | g.146339830C>A | CA361620626 | POU4F3 | c.403C>A (p.Pro135Thr) | |
| 5 | g.146339830C= | CA1589086637 | POU4F3 | c.403C= (p.Pro135=) | |
| 5 | g.146339830C>G | CA361620627 | POU4F3 | c.403C>G (p.Pro135Ala) | |
| 5 | g.146339830C>T | CA177655 | POU4F3 | c.403C>T (p.Pro135Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339831C>A | CA361620628 | POU4F3 | c.404C>A (p.Pro135Gln) | |
| 5 | g.146339831C= | CA1589086638 | POU4F3 | c.404C= (p.Pro135=) | |
| 5 | g.146339831C>G | CA361620629 | POU4F3 | c.404C>G (p.Pro135Arg) | |
| 5 | g.146339831C>T | CA361620630 | POU4F3 | c.404C>T (p.Pro135Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146339832G>A | CA3491122 | POU4F3 | c.405G>A (p.Pro135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339832G>C | CA447097652 | POU4F3 | c.405G>C (p.Pro135=) | |
| 5 | g.146339832G= | CA1589086639 | POU4F3 | c.405G= (p.Pro135=) | |
| 5 | g.146339832G>T | CA447097653 | POU4F3 | c.405G>T (p.Pro135=) | gnomAD v4 COSMIC |
| 5 | g.146339833G>A | CA3491123 | POU4F3 | c.406G>A (p.Glu136Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339833G>C | CA361620631 | POU4F3 | c.406G>C (p.Glu136Gln) | ClinVar |
| 5 | g.146339833G= | CA1589086640 | POU4F3 | c.406G= (p.Glu136=) | |
| 5 | g.146339833G>T | CA361620632 | POU4F3 | c.406G>T (p.Glu136Ter) | gnomAD v4 |
| 5 | g.146339834A>C | CA361620633 | POU4F3 | c.407A>C (p.Glu136Ala) | |
| 5 | g.146339834A>G | CA361620634 | POU4F3 | c.407A>G (p.Glu136Gly) | |
| 5 | g.146339834A>T | CA361620635 | POU4F3 | c.407A>T (p.Glu136Val) | |
| 5 | g.146339835A>C | CA361620636 | POU4F3 | c.408A>C (p.Glu136Asp) | |
| 5 | g.146339835A>G | CA447097654 | POU4F3 | c.408A>G (p.Glu136=) | |
| 5 | g.146339835A>T | CA361620637 | POU4F3 | c.408A>T (p.Glu136Asp) | |
| 5 | g.146339836C>A | CA361620638 | POU4F3 | c.409C>A (p.His137Asn) | |
| 5 | g.146339836C= | CA1589086641 | POU4F3 | c.409C= (p.His137=) | |
| 5 | g.146339836C>G | CA361620639 | POU4F3 | c.409C>G (p.His137Asp) | dbSNP gnomAD v4 |
| 5 | g.146339836C>T | CA361620640 | POU4F3 | c.409C>T (p.His137Tyr) | |
| 5 | g.146339837A= | CA1589086642 | POU4F3 | c.410A= (p.His137=) | |
| 5 | g.146339837A>C | CA361620641 | POU4F3 | c.410A>C (p.His137Pro) | |
| 5 | g.146339837A>G | CA361620642 | POU4F3 | c.410A>G (p.His137Arg) | gnomAD v4 |
| 5 | g.146339837A>T | CA361620643 | POU4F3 | c.410A>T (p.His137Leu) | dbSNP gnomAD v4 |
| 5 | g.146339838C>A | CA361620645 | POU4F3 | c.411C>A (p.His137Gln) | |
| 5 | g.146339838C= | CA1589086643 | POU4F3 | c.411C= (p.His137=) | |
| 5 | g.146339838C>G | CA361620644 | POU4F3 | c.411C>G (p.His137Gln) | |
| 5 | g.146339838C>T | CA3491124 | POU4F3 | c.411C>T (p.His137=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339839T>A | CA361620646 | POU4F3 | c.412T>A (p.Ser138Thr) | |
| 5 | g.146339839T>C | CA361620647 | POU4F3 | c.412T>C (p.Ser138Pro) | |
| 5 | g.146339839T>G | CA361620648 | POU4F3 | c.412T>G (p.Ser138Ala) | |
| 5 | g.146339840C>A | CA361620649 | POU4F3 | c.413C>A (p.Ser138Ter) | gnomAD v4 |
| 5 | g.146339840C= | CA1589086644 | POU4F3 | c.413C= (p.Ser138=) | |
| 5 | g.146339840C>G | CA361620650 | POU4F3 | c.413C>G (p.Ser138Trp) | dbSNP gnomAD v4 |
| 5 | g.146339840C>T | CA3491125 | POU4F3 | c.413C>T (p.Ser138Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339841G>A | CA3491126 | POU4F3 | c.414G>A (p.Ser138=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146339841G>C | CA447097656 | POU4F3 | c.414G>C (p.Ser138=) | gnomAD v4 |
| 5 | g.146339841G= | CA1589086645 | POU4F3 | c.414G= (p.Ser138=) | |
| 5 | g.146339841G>T | CA447097655 | POU4F3 | c.414G>T (p.Ser138=) | |
| 5 | g.146339841_146339845del | CA2739275168 | POU4F3 | c.414_418del (p.Val139AlafsTer?) | ClinVar |