Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.146340120C>A | CA361621924 | POU4F3 | c.693C>A (p.Phe231Leu) | |
5 | g.146340120C>G | CA361621926 | POU4F3 | c.693C>G (p.Phe231Leu) | |
5 | g.146340120C>T | CA447097924 | POU4F3 | c.693C>T (p.Phe231=) | gnomAD v4 COSMIC |
5 | g.146340121G>A | CA361621929 | POU4F3 | c.694G>A (p.Glu232Lys) | ClinVar dbSNP gnomAD v4 |
5 | g.146340121G>C | CA361621930 | POU4F3 | c.694G>C (p.Glu232Gln) | ClinVar dbSNP gnomAD v4 |
5 | g.146340121G>T | CA361621931 | POU4F3 | c.694G>T (p.Glu232Ter) | ClinVar dbSNP |
5 | g.146340122A>C | CA361621935 | POU4F3 | c.695A>C (p.Glu232Ala) | |
5 | g.146340122A>G | CA361621934 | POU4F3 | c.695A>G (p.Glu232Gly) | |
5 | g.146340122A>T | CA361621933 | POU4F3 | c.695A>T (p.Glu232Val) | |
5 | g.146340123G>A | CA447097929 | POU4F3 | c.696G>A (p.Glu232=) | |
5 | g.146340123G>C | CA361621938 | POU4F3 | c.696G>C (p.Glu232Asp) | |
5 | g.146340123G= | CA1589086788 | POU4F3 | c.696G= (p.Glu232=) | |
5 | g.146340123G>T | CA361621940 | POU4F3 | c.696G>T (p.Glu232Asp) | ClinVar dbSNP |
5 | g.146340124T>A | CA361621944 | POU4F3 | c.697T>A (p.Ser233Thr) | |
5 | g.146340124T>C | CA361621947 | POU4F3 | c.697T>C (p.Ser233Pro) | dbSNP |
5 | g.146340124T>G | CA361621951 | POU4F3 | c.697T>G (p.Ser233Ala) | |
5 | g.146340124T= | CA1589086789 | POU4F3 | c.697T= (p.Ser233=) | |
5 | g.146340125C>A | CA361621953 | POU4F3 | c.698C>A (p.Ser233Tyr) | |
5 | g.146340125C>G | CA361621955 | POU4F3 | c.698C>G (p.Ser233Cys) | |
5 | g.146340125C>T | CA361621957 | POU4F3 | c.698C>T (p.Ser233Phe) | |
5 | g.146340126T>A | CA447097933 | POU4F3 | c.699T>A (p.Ser233=) | |
5 | g.146340126T>C | CA447097934 | POU4F3 | c.699T>C (p.Ser233=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.146340126T>G | CA447097936 | POU4F3 | c.699T>G (p.Ser233=) | |
5 | g.146340126T= | CA1589086790 | POU4F3 | c.699T= (p.Ser233=) | |
5 | g.146340127C>A | CA361621960 | POU4F3 | c.700C>A (p.Leu234Ile) | |
5 | g.146340127C>G | CA361621962 | POU4F3 | c.700C>G (p.Leu234Val) | |
5 | g.146340127C>T | CA361621964 | POU4F3 | c.700C>T (p.Leu234Phe) | |
5 | g.146340128T>A | CA361621967 | POU4F3 | c.701T>A (p.Leu234His) | |
5 | g.146340128T>C | CA361621968 | POU4F3 | c.701T>C (p.Leu234Pro) | |
5 | g.146340128T>G | CA361621971 | POU4F3 | c.701T>G (p.Leu234Arg) | dbSNP |
5 | g.146340128T= | CA1589086791 | POU4F3 | c.701T= (p.Leu234=) | |
5 | g.146340129C>A | CA447097941 | POU4F3 | c.702C>A (p.Leu234=) | dbSNP |
5 | g.146340129C= | CA1589086792 | POU4F3 | c.702C= (p.Leu234=) | |
5 | g.146340129C>G | CA447097944 | POU4F3 | c.702C>G (p.Leu234=) | |
5 | g.146340129C>T | CA3491183 | POU4F3 | c.702C>T (p.Leu234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.146340130_146340131del | CA2580613685 | POU4F3 | c.703_704del (p.Thr235SerfsTer?) | ClinVar |
5 | g.146340130A>C | CA361621974 | POU4F3 | c.703A>C (p.Thr235Pro) | |
5 | g.146340130A>G | CA361621973 | POU4F3 | c.703A>G (p.Thr235Ala) | |
5 | g.146340130A>T | CA361621975 | POU4F3 | c.703A>T (p.Thr235Ser) | |
5 | g.146340131C>A | CA361621976 | POU4F3 | c.704C>A (p.Thr235Asn) | |
5 | g.146340131C>G | CA361621978 | POU4F3 | c.704C>G (p.Thr235Ser) | |
5 | g.146340131C>T | CA361621977 | POU4F3 | c.704C>T (p.Thr235Ile) | |
5 | g.146340136_146340137del | CA2695205586 | POU4F3 | c.709_710del (p.Ser237AlafsTer?) | |
5 | g.146340132del | CA2695205587 | POU4F3 | c.705del (p.Leu236SerfsTer6) | |
5 | g.146340132T>A | CA447097948 | POU4F3 | c.705T>A (p.Thr235=) | |
5 | g.146340132T>C | CA447097949 | POU4F3 | c.705T>C (p.Thr235=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.146340132T>G | CA447097951 | POU4F3 | c.705T>G (p.Thr235=) | |
5 | g.146340132T= | CA1589086793 | POU4F3 | c.705T= (p.Thr235=) | |
5 | g.146340133C>A | CA361621981 | POU4F3 | c.706C>A (p.Leu236Ile) | |
5 | g.146340133C>G | CA361621984 | POU4F3 | c.706C>G (p.Leu236Val) |