| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.146339673_146340072delinsGG | CA2573139233 | POU4F3 | c.246_645delinsGG (p.Met83GlufsTer?) | ClinVar dbSNP |
| 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 |
| 5 | g.146339842G>A | CA361620651 | POU4F3 | c.415G>A (p.Val139Met) | gnomAD v4 |
| 5 | g.146339842G>C | CA361620652 | POU4F3 | c.415G>C (p.Val139Leu) | |
| 5 | g.146339842G>T | CA361620653 | POU4F3 | c.415G>T (p.Val139Leu) | |
| 5 | g.146339843T>A | CA361620654 | POU4F3 | c.416T>A (p.Val139Glu) | |
| 5 | g.146339843T>C | CA361620655 | POU4F3 | c.416T>C (p.Val139Ala) | |
| 5 | g.146339843T>G | CA361620656 | POU4F3 | c.416T>G (p.Val139Gly) | |
| 5 | g.146339844G>A | CA447097657 | POU4F3 | c.417G>A (p.Val139=) | |
| 5 | g.146339844G>C | CA447097658 | POU4F3 | c.417G>C (p.Val139=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146339844G= | CA1589086646 | POU4F3 | c.417G= (p.Val139=) | |
| 5 | g.146339844G>T | CA447097659 | POU4F3 | c.417G>T (p.Val139=) | gnomAD v4 |
| 5 | g.146339845A>C | CA361620658 | POU4F3 | c.418A>C (p.Met140Leu) | |
| 5 | g.146339845A>G | CA361620659 | POU4F3 | c.418A>G (p.Met140Val) | |
| 5 | g.146339845A>T | CA361620657 | POU4F3 | c.418A>T (p.Met140Leu) | |
| 5 | g.146339846T>A | CA361620660 | POU4F3 | c.419T>A (p.Met140Lys) | |
| 5 | g.146339846T>C | CA361620661 | POU4F3 | c.419T>C (p.Met140Thr) | |
| 5 | g.146339846T>G | CA361620662 | POU4F3 | c.419T>G (p.Met140Arg) | |
| 5 | g.146339847G>A | CA361620663 | POU4F3 | c.420G>A (p.Met140Ile) | gnomAD v4 |
| 5 | g.146339847G>C | CA361620664 | POU4F3 | c.420G>C (p.Met140Ile) | |
| 5 | g.146339847G>T | CA361620665 | POU4F3 | c.420G>T (p.Met140Ile) | gnomAD v4 |
| 5 | g.146339848C>A | CA3491127 | POU4F3 | c.421C>A (p.Pro141Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339848C= | CA1589086647 | POU4F3 | c.421C= (p.Pro141=) | |
| 5 | g.146339848C>G | CA361620666 | POU4F3 | c.421C>G (p.Pro141Ala) | |
| 5 | g.146339848C>T | CA3491128 | POU4F3 | c.421C>T (p.Pro141Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339849C>A | CA361620667 | POU4F3 | c.422C>A (p.Pro141His) | |
| 5 | g.146339849C>G | CA361620668 | POU4F3 | c.422C>G (p.Pro141Arg) | |
| 5 | g.146339849C>T | CA361620669 | POU4F3 | c.422C>T (p.Pro141Leu) | |
| 5 | g.146339850C>A | CA447097660 | POU4F3 | c.423C>A (p.Pro141=) | |
| 5 | g.146339850C= | CA1589086648 | POU4F3 | c.423C= (p.Pro141=) | |
| 5 | g.146339850C>G | CA447097661 | POU4F3 | c.423C>G (p.Pro141=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146339850C>T | CA3491129 | POU4F3 | c.423C>T (p.Pro141=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339851G>A | CA3491130 | POU4F3 | c.424G>A (p.Ala142Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146339851G>C | CA361620671 | POU4F3 | c.424G>C (p.Ala142Pro) | |
| 5 | g.146339851G= | CA1589086649 | POU4F3 | c.424G= (p.Ala142=) | |
| 5 | g.146339851G>T | CA361620670 | POU4F3 | c.424G>T (p.Ala142Ser) | gnomAD v4 |
| 5 | g.146339852C>A | CA361620672 | POU4F3 | c.425C>A (p.Ala142Glu) | |
| 5 | g.146339852C>G | CA361620673 | POU4F3 | c.425C>G (p.Ala142Gly) | |
| 5 | g.146339852C>T | CA361620674 | POU4F3 | c.425C>T (p.Ala142Val) |