Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.146339673_146340072delinsGG | CA2573139233 | POU4F3 | c.246_645delinsGG (p.Met83GlufsTer?) | ClinVar dbSNP |
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) | |
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 |