Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.146339673_146340072delinsGG | CA2573139233 | POU4F3 | c.246_645delinsGG (p.Met83GlufsTer?) | ClinVar dbSNP |
5 | g.146339853del | CA645567600 | POU4F3 | c.426del (p.Gln143ArgfsTer19) | COSMIC |
5 | g.146339853A>C | CA447097662 | POU4F3 | c.426A>C (p.Ala142=) | |
5 | g.146339853A>G | CA447097663 | POU4F3 | c.426A>G (p.Ala142=) | gnomAD v4 |
5 | g.146339853A>T | CA447097664 | POU4F3 | c.426A>T (p.Ala142=) | |
5 | g.146339854C>A | CA361620675 | POU4F3 | c.427C>A (p.Gln143Lys) | |
5 | g.146339854C= | CA1589086650 | POU4F3 | c.427C= (p.Gln143=) | |
5 | g.146339854C>G | CA361620676 | POU4F3 | c.427C>G (p.Gln143Glu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.146339854C>T | CA361620677 | POU4F3 | c.427C>T (p.Gln143Ter) | gnomAD v4 |
5 | g.146339855A= | CA1589086651 | POU4F3 | c.428A= (p.Gln143=) | |
5 | g.146339855A>C | CA361620678 | POU4F3 | c.428A>C (p.Gln143Pro) | |
5 | g.146339855A>G | CA3491131 | POU4F3 | c.428A>G (p.Gln143Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.146339855A>T | CA361620679 | POU4F3 | c.428A>T (p.Gln143Leu) | dbSNP |
5 | g.146339856G>A | CA447097665 | POU4F3 | c.429G>A (p.Gln143=) | |
5 | g.146339856G>C | CA361620680 | POU4F3 | c.429G>C (p.Gln143His) | |
5 | g.146339856G>T | CA361620681 | POU4F3 | c.429G>T (p.Gln143His) | gnomAD v4 |
5 | g.146339857A>C | CA361620684 | POU4F3 | c.430A>C (p.Ile144Leu) | |
5 | g.146339857A>G | CA361620683 | POU4F3 | c.430A>G (p.Ile144Val) | gnomAD v4 |
5 | g.146339857A>T | CA361620682 | POU4F3 | c.430A>T (p.Ile144Phe) | |
5 | g.146339858T>A | CA361620686 | POU4F3 | c.431T>A (p.Ile144Asn) | |
5 | g.146339858T>C | CA361620685 | POU4F3 | c.431T>C (p.Ile144Thr) | |
5 | g.146339858T>G | CA361620687 | POU4F3 | c.431T>G (p.Ile144Ser) | |
5 | g.146339859C>A | CA3491132 | POU4F3 | c.432C>A (p.Ile144=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.146339859C= | CA1589086652 | POU4F3 | c.432C= (p.Ile144=) | |
5 | g.146339859C>G | CA361620688 | POU4F3 | c.432C>G (p.Ile144Met) | |
5 | g.146339859C>T | CA447097666 | POU4F3 | c.432C>T (p.Ile144=) | COSMIC |
5 | g.146339860C>A | CA361620689 | POU4F3 | c.433C>A (p.His145Asn) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.146339860C= | CA1589086653 | POU4F3 | c.433C= (p.His145=) | |
5 | g.146339860C>G | CA361620691 | POU4F3 | c.433C>G (p.His145Asp) | gnomAD v4 |
5 | g.146339860C>T | CA361620690 | POU4F3 | c.433C>T (p.His145Tyr) | gnomAD v4 |
5 | g.146339861A= | CA1589086654 | POU4F3 | c.434A= (p.His145=) | |
5 | g.146339861A>C | CA361620692 | POU4F3 | c.434A>C (p.His145Pro) | |
5 | g.146339861A>G | CA3491133 | POU4F3 | c.434A>G (p.His145Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.146339861A>T | CA361620693 | POU4F3 | c.434A>T (p.His145Leu) | |
5 | g.146339862T>A | CA361620694 | POU4F3 | c.435T>A (p.His145Gln) | |
5 | g.146339862T>C | CA447097667 | POU4F3 | c.435T>C (p.His145=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.146339862T>G | CA361620695 | POU4F3 | c.435T>G (p.His145Gln) | |
5 | g.146339862T= | CA1589086655 | POU4F3 | c.435T= (p.His145=) | |
5 | g.146339863C>A | CA361620696 | POU4F3 | c.436C>A (p.Pro146Thr) | gnomAD v4 |
5 | g.146339863C>G | CA361620697 | POU4F3 | c.436C>G (p.Pro146Ala) | |
5 | g.146339863C>T | CA361620698 | POU4F3 | c.436C>T (p.Pro146Ser) | gnomAD v4 COSMIC |
5 | g.146339864C>A | CA361620699 | POU4F3 | c.437C>A (p.Pro146Gln) | |
5 | g.146339864C= | CA1589086656 | POU4F3 | c.437C= (p.Pro146=) | |
5 | g.146339864C>G | CA361620700 | POU4F3 | c.437C>G (p.Pro146Arg) | |
5 | g.146339864C>T | CA361620701 | POU4F3 | c.437C>T (p.Pro146Leu) | dbSNP gnomAD v4 |
5 | g.146339865A>C | CA447097668 | POU4F3 | c.438A>C (p.Pro146=) | |
5 | g.146339865A>G | CA447097669 | POU4F3 | c.438A>G (p.Pro146=) | |
5 | g.146339865A>T | CA447097670 | POU4F3 | c.438A>T (p.Pro146=) | |
5 | g.146339866C>A | CA361620704 | POU4F3 | c.439C>A (p.His147Asn) | |
5 | g.146339866C= | CA1589086657 | POU4F3 | c.439C= (p.His147=) |