| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.146339673_146340072delinsGG | CA2573139233 | POU4F3 | c.246_645delinsGG (p.Met83GlufsTer?) | ClinVar dbSNP |
| 5 | g.146339933del | CA1589086692 | POU4F3 | c.506del (p.Pro169LeufsTer?) | dbSNP |
| 5 | g.146339933C>A | CA361620868 | POU4F3 | c.506C>A (p.Pro169His) | |
| 5 | g.146339933C>G | CA361620870 | POU4F3 | c.506C>G (p.Pro169Arg) | |
| 5 | g.146339933C>T | CA361620872 | POU4F3 | c.506C>T (p.Pro169Leu) | gnomAD v4 |
| 5 | g.146339933_146339934insA | CA2578641131 | POU4F3 | c.506_507insA (p.His170SerfsTer2) | |
| 5 | g.146339934T>A | CA447097723 | POU4F3 | c.507T>A (p.Pro169=) | gnomAD v4 |
| 5 | g.146339934T>C | CA447097724 | POU4F3 | c.507T>C (p.Pro169=) | |
| 5 | g.146339934T>G | CA447097725 | POU4F3 | c.507T>G (p.Pro169=) | |
| 5 | g.146339935C>A | CA361620874 | POU4F3 | c.508C>A (p.His170Asn) | |
| 5 | g.146339935C= | CA1589086695 | POU4F3 | c.508C= (p.His170=) | |
| 5 | g.146339935C>G | CA361620876 | POU4F3 | c.508C>G (p.His170Asp) | |
| 5 | g.146339935C>T | CA361620878 | POU4F3 | c.508C>T (p.His170Tyr) | ClinVar dbSNP gnomAD v2 COSMIC |
| 5 | g.146339936A= | CA1589086696 | POU4F3 | c.509A= (p.His170=) | |
| 5 | g.146339936A>C | CA361620880 | POU4F3 | c.509A>C (p.His170Pro) | dbSNP gnomAD v4 |
| 5 | g.146339936A>G | CA3491150 | POU4F3 | c.509A>G (p.His170Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339936A>T | CA361620883 | POU4F3 | c.509A>T (p.His170Leu) | |
| 5 | g.146339937T>A | CA361620886 | POU4F3 | c.510T>A (p.His170Gln) | |
| 5 | g.146339937T>C | CA447097727 | POU4F3 | c.510T>C (p.His170=) | |
| 5 | g.146339937T>G | CA361620887 | POU4F3 | c.510T>G (p.His170Gln) | |
| 5 | g.146339938A>C | CA361620892 | POU4F3 | c.511A>C (p.Ser171Arg) | |
| 5 | g.146339938A>G | CA361620893 | POU4F3 | c.511A>G (p.Ser171Gly) | |
| 5 | g.146339938A>T | CA361620890 | POU4F3 | c.511A>T (p.Ser171Cys) | |
| 5 | g.146339939G>A | CA361620895 | POU4F3 | c.512G>A (p.Ser171Asn) | |
| 5 | g.146339939G>C | CA361620899 | POU4F3 | c.512G>C (p.Ser171Thr) | |
| 5 | g.146339939G>T | CA361620897 | POU4F3 | c.512G>T (p.Ser171Ile) | gnomAD v4 |
| 5 | g.146339940C>A | CA3491151 | POU4F3 | c.513C>A (p.Ser171Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339940C= | CA1589086697 | POU4F3 | c.513C= (p.Ser171=) | |
| 5 | g.146339940C>G | CA361620901 | POU4F3 | c.513C>G (p.Ser171Arg) | |
| 5 | g.146339940C>T | CA3491152 | POU4F3 | c.513C>T (p.Ser171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339941G>A | CA361620903 | POU4F3 | c.514G>A (p.Ala172Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339941G>C | CA361620905 | POU4F3 | c.514G>C (p.Ala172Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146339941G= | CA1589086698 | POU4F3 | c.514G= (p.Ala172=) | |
| 5 | g.146339941G>T | CA3491153 | POU4F3 | c.514G>T (p.Ala172Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339942C>A | CA361620909 | POU4F3 | c.515C>A (p.Ala172Asp) | |
| 5 | g.146339942C= | CA1589086699 | POU4F3 | c.515C= (p.Ala172=) | |
| 5 | g.146339942C>G | CA361620911 | POU4F3 | c.515C>G (p.Ala172Gly) | dbSNP |
| 5 | g.146339942C>T | CA3491154 | POU4F3 | c.515C>T (p.Ala172Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) |