| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.146339673_146340072delinsGG | CA2573139233 | POU4F3 | c.246_645delinsGG (p.Met83GlufsTer?) | ClinVar dbSNP |
| 5 | g.146339995T>A | CA361621193 | POU4F3 | c.568T>A (p.Phe190Ile) | |
| 5 | g.146339995T>C | CA361621189 | POU4F3 | c.568T>C (p.Phe190Leu) | |
| 5 | g.146339995T>G | CA361621191 | POU4F3 | c.568T>G (p.Phe190Val) | |
| 5 | g.146339996T>A | CA361621197 | POU4F3 | c.569T>A (p.Phe190Tyr) | |
| 5 | g.146339996T>C | CA361621198 | POU4F3 | c.569T>C (p.Phe190Ser) | |
| 5 | g.146339996T>G | CA361621203 | POU4F3 | c.569T>G (p.Phe190Cys) | |
| 5 | g.146339997C>A | CA361621206 | POU4F3 | c.570C>A (p.Phe190Leu) | gnomAD v4 |
| 5 | g.146339997C= | CA1589086725 | POU4F3 | c.570C= (p.Phe190=) | |
| 5 | g.146339997C>G | CA361621208 | POU4F3 | c.570C>G (p.Phe190Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146339997C>T | CA447097811 | POU4F3 | c.570C>T (p.Phe190=) | gnomAD v4 |
| 5 | g.146339998G>A | CA361621217 | POU4F3 | c.571G>A (p.Ala191Thr) | COSMIC |
| 5 | g.146339998G>C | CA361621211 | POU4F3 | c.571G>C (p.Ala191Pro) | gnomAD v4 |
| 5 | g.146339998G>T | CA361621214 | POU4F3 | c.571G>T (p.Ala191Ser) | |
| 5 | g.146339999C>A | CA361621219 | POU4F3 | c.572C>A (p.Ala191Asp) | |
| 5 | g.146339999C= | CA1589086726 | POU4F3 | c.572C= (p.Ala191=) | |
| 5 | g.146339999C>G | CA361621220 | POU4F3 | c.572C>G (p.Ala191Gly) | |
| 5 | g.146339999C>T | CA361621223 | POU4F3 | c.572C>T (p.Ala191Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340000C>A | CA447097818 | POU4F3 | c.573C>A (p.Ala191=) | |
| 5 | g.146340000C= | CA1589086727 | POU4F3 | c.573C= (p.Ala191=) | |
| 5 | g.146340000C>G | CA128860959 | POU4F3 | c.573C>G (p.Ala191=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340000C>T | CA447097820 | POU4F3 | c.573C>T (p.Ala191=) | |
| 5 | g.146340001G>A | CA361621229 | POU4F3 | c.574G>A (p.Glu192Lys) | |
| 5 | g.146340001G>C | CA361621230 | POU4F3 | c.574G>C (p.Glu192Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340001G= | CA1589086728 | POU4F3 | c.574G= (p.Glu192=) | |
| 5 | g.146340001G>T | CA361621232 | POU4F3 | c.574G>T (p.Glu192Ter) | |
| 5 | g.146340002A>C | CA361621234 | POU4F3 | c.575A>C (p.Glu192Ala) | |
| 5 | g.146340002A>G | CA361621236 | POU4F3 | c.575A>G (p.Glu192Gly) | |
| 5 | g.146340002A>T | CA361621238 | POU4F3 | c.575A>T (p.Glu192Val) | |
| 5 | g.146340003G>A | CA3491166 | POU4F3 | c.576G>A (p.Glu192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340003G>C | CA361621241 | POU4F3 | c.576G>C (p.Glu192Asp) | |
| 5 | g.146340003G= | CA1589086729 | POU4F3 | c.576G= (p.Glu192=) | |
| 5 | g.146340003G>T | CA361621244 | POU4F3 | c.576G>T (p.Glu192Asp) | |
| 5 | g.146340004C>A | CA361621247 | POU4F3 | c.577C>A (p.Arg193Ser) | gnomAD v4 |
| 5 | g.146340004C= | CA1589086730 | POU4F3 | c.577C= (p.Arg193=) | |
| 5 | g.146340004C>G | CA361621251 | POU4F3 | c.577C>G (p.Arg193Gly) | |
| 5 | g.146340004C>T | CA10623123 | POU4F3 | c.577C>T (p.Arg193Cys) | ClinVar dbSNP |
| 5 | g.146340005G>A | CA361621255 | POU4F3 | c.578G>A (p.Arg193His) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340005G>C | CA361621256 | POU4F3 | c.578G>C (p.Arg193Pro) | |
| 5 | g.146340005G= | CA1589086731 | POU4F3 | c.578G= (p.Arg193=) | |
| 5 | g.146340005G>T | CA3491167 | POU4F3 | c.578G>T (p.Arg193Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340006C>A | CA447097827 | POU4F3 | c.579C>A (p.Arg193=) | |
| 5 | g.146340006C>G | CA447097828 | POU4F3 | c.579C>G (p.Arg193=) | |
| 5 | g.146340006C>T | CA447097829 | POU4F3 | c.579C>T (p.Arg193=) | |
| 5 | g.146340007T>A | CA361621261 | POU4F3 | c.580T>A (p.Phe194Ile) | |
| 5 | g.146340007T>C | CA361621263 | POU4F3 | c.580T>C (p.Phe194Leu) | |
| 5 | g.146340007T>G | CA361621265 | POU4F3 | c.580T>G (p.Phe194Val) | |
| 5 | g.146340008T>A | CA361621273 | POU4F3 | c.581T>A (p.Phe194Tyr) | dbSNP gnomAD v4 |
| 5 | g.146340008T>C | CA361621269 | POU4F3 | c.581T>C (p.Phe194Ser) | |
| 5 | g.146340008T>G | CA361621271 | POU4F3 | c.581T>G (p.Phe194Cys) |