| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.146339673_146340072delinsGG | CA2573139233 | POU4F3 | c.246_645delinsGG (p.Met83GlufsTer?) | ClinVar dbSNP |
| 5 | g.146339943C>A | CA447097730 | POU4F3 | c.516C>A (p.Ala172=) | |
| 5 | g.146339943C>G | CA447097731 | POU4F3 | c.516C>G (p.Ala172=) | |
| 5 | g.146339943C>T | CA447097732 | POU4F3 | c.516C>T (p.Ala172=) | gnomAD v4 |
| 5 | g.146339944A= | CA1589086700 | POU4F3 | c.517A= (p.Met173=) | |
| 5 | g.146339944A>C | CA361620913 | POU4F3 | c.517A>C (p.Met173Leu) | dbSNP |
| 5 | g.146339944A>G | CA361620915 | POU4F3 | c.517A>G (p.Met173Val) | |
| 5 | g.146339944A>T | CA3491155 | POU4F3 | c.517A>T (p.Met173Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339945T>A | CA361620917 | POU4F3 | c.518T>A (p.Met173Lys) | |
| 5 | g.146339945T>C | CA361620921 | POU4F3 | c.518T>C (p.Met173Thr) | |
| 5 | g.146339945T>G | CA361620919 | POU4F3 | c.518T>G (p.Met173Arg) | |
| 5 | g.146339946G>A | CA361620923 | POU4F3 | c.519G>A (p.Met173Ile) | |
| 5 | g.146339946G>C | CA361620925 | POU4F3 | c.519G>C (p.Met173Ile) | |
| 5 | g.146339946G>T | CA361620927 | POU4F3 | c.519G>T (p.Met173Ile) | gnomAD v4 |
| 5 | g.146339947C>A | CA361620930 | POU4F3 | c.520C>A (p.Pro174Thr) | gnomAD v4 |
| 5 | g.146339947C= | CA1589086701 | POU4F3 | c.520C= (p.Pro174=) | |
| 5 | g.146339947C>G | CA361620932 | POU4F3 | c.520C>G (p.Pro174Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339947C>T | CA3491156 | POU4F3 | c.520C>T (p.Pro174Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339948C>A | CA128860901 | POU4F3 | c.521C>A (p.Pro174His) | dbSNP |
| 5 | g.146339948C= | CA1589086702 | POU4F3 | c.521C= (p.Pro174=) | |
| 5 | g.146339948C>G | CA361620935 | POU4F3 | c.521C>G (p.Pro174Arg) | |
| 5 | g.146339948C>T | CA361620937 | POU4F3 | c.521C>T (p.Pro174Leu) | gnomAD v4 |
| 5 | g.146339949T>A | CA447097735 | POU4F3 | c.522T>A (p.Pro174=) | |
| 5 | g.146339949T>C | CA447097738 | POU4F3 | c.522T>C (p.Pro174=) | |
| 5 | g.146339949T>G | CA447097740 | POU4F3 | c.522T>G (p.Pro174=) | |
| 5 | g.146339950G>A | CA361620943 | POU4F3 | c.523G>A (p.Ala175Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339950G>C | CA361620945 | POU4F3 | c.523G>C (p.Ala175Pro) | |
| 5 | g.146339950G= | CA1589086703 | POU4F3 | c.523G= (p.Ala175=) | |
| 5 | g.146339950G>T | CA361620940 | POU4F3 | c.523G>T (p.Ala175Ser) | gnomAD v4 |
| 5 | g.146339951C>A | CA361620947 | POU4F3 | c.524C>A (p.Ala175Glu) | |
| 5 | g.146339951C>G | CA361620950 | POU4F3 | c.524C>G (p.Ala175Gly) | |
| 5 | g.146339951C>T | CA361620953 | POU4F3 | c.524C>T (p.Ala175Val) | gnomAD v4 |
| 5 | g.146339952A>C | CA447097744 | POU4F3 | c.525A>C (p.Ala175=) | |
| 5 | g.146339952A>G | CA447097746 | POU4F3 | c.525A>G (p.Ala175=) | ClinVar gnomAD v4 |
| 5 | g.146339952A>T | CA447097742 | POU4F3 | c.525A>T (p.Ala175=) | |
| 5 | g.146339953T>A | CA361620955 | POU4F3 | c.526T>A (p.Cys176Ser) | |
| 5 | g.146339953T>C | CA361620957 | POU4F3 | c.526T>C (p.Cys176Arg) | gnomAD v4 |
| 5 | g.146339953T>G | CA3491157 | POU4F3 | c.526T>G (p.Cys176Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339953T= | CA1589086704 | POU4F3 | c.526T= (p.Cys176=) | |
| 5 | g.146339954G>A | CA3491158 | POU4F3 | c.527G>A (p.Cys176Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339954G>C | CA361620962 | POU4F3 | c.527G>C (p.Cys176Ser) | |
| 5 | g.146339954G= | CA1589086705 | POU4F3 | c.527G= (p.Cys176=) | |
| 5 | g.146339954G>T | CA361620965 | POU4F3 | c.527G>T (p.Cys176Phe) | gnomAD v4 |
| 5 | g.146339955C>A | CA361620969 | POU4F3 | c.528C>A (p.Cys176Ter) | |
| 5 | g.146339955C>G | CA361620972 | POU4F3 | c.528C>G (p.Cys176Trp) | |
| 5 | g.146339955C>T | CA447097748 | POU4F3 | c.528C>T (p.Cys176=) | |
| 5 | g.146339956C>A | CA361620974 | POU4F3 | c.529C>A (p.Leu177Ile) | |
| 5 | g.146339956C>G | CA361620977 | POU4F3 | c.529C>G (p.Leu177Val) | |
| 5 | g.146339956C>T | CA361620979 | POU4F3 | c.529C>T (p.Leu177Phe) | |
| 5 | g.146339957T>A | CA361620982 | POU4F3 | c.530T>A (p.Leu177His) |