Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.146340112T>A | CA361621880 | POU4F3 | c.685T>A (p.Cys229Ser) | |
5 | g.146340112T>C | CA361621882 | POU4F3 | c.685T>C (p.Cys229Arg) | |
5 | g.146340112T>G | CA361621884 | POU4F3 | c.685T>G (p.Cys229Gly) | |
5 | g.146340113G>A | CA361621885 | POU4F3 | c.686G>A (p.Cys229Tyr) | |
5 | g.146340113G>C | CA361621886 | POU4F3 | c.686G>C (p.Cys229Ser) | |
5 | g.146340113G= | CA1589086785 | POU4F3 | c.686G= (p.Cys229=) | |
5 | g.146340113G>T | CA361621889 | POU4F3 | c.686G>T (p.Cys229Phe) | ClinVar dbSNP |
5 | g.146340114C>A | CA361621893 | POU4F3 | c.687C>A (p.Cys229Ter) | |
5 | g.146340114C>G | CA361621895 | POU4F3 | c.687C>G (p.Cys229Trp) | |
5 | g.146340114C>T | CA447097918 | POU4F3 | c.687C>T (p.Cys229=) | |
5 | g.146340115A>C | CA447097920 | POU4F3 | c.688A>C (p.Arg230=) | |
5 | g.146340115A>G | CA361621897 | POU4F3 | c.688A>G (p.Arg230Gly) | |
5 | g.146340115A>T | CA361621898 | POU4F3 | c.688A>T (p.Arg230Trp) | |
5 | g.146340116G>A | CA128861092 | POU4F3 | c.689G>A (p.Arg230Lys) | dbSNP gnomAD v4 |
5 | g.146340116G>C | CA361621905 | POU4F3 | c.689G>C (p.Arg230Thr) | ClinVar dbSNP |
5 | g.146340116G= | CA1589086786 | POU4F3 | c.689G= (p.Arg230=) | |
5 | g.146340116G>T | CA361621901 | POU4F3 | c.689G>T (p.Arg230Met) | |
5 | g.146340117G>A | CA447097922 | POU4F3 | c.690G>A (p.Arg230=) | |
5 | g.146340117G>C | CA361621907 | POU4F3 | c.690G>C (p.Arg230Ser) | |
5 | g.146340117G= | CA1589086787 | POU4F3 | c.690G= (p.Arg230=) | |
5 | g.146340117G>T | CA3491182 | POU4F3 | c.690G>T (p.Arg230Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.146340118T>A | CA361621913 | POU4F3 | c.691T>A (p.Phe231Ile) | |
5 | g.146340118T>C | CA361621916 | POU4F3 | c.691T>C (p.Phe231Leu) | |
5 | g.146340118T>G | CA361621917 | POU4F3 | c.691T>G (p.Phe231Val) | |
5 | g.146340119T>A | CA361621919 | POU4F3 | c.692T>A (p.Phe231Tyr) | |
5 | g.146340119T>C | CA361621920 | POU4F3 | c.692T>C (p.Phe231Ser) | gnomAD v4 |
5 | g.146340119T>G | CA361621922 | POU4F3 | c.692T>G (p.Phe231Cys) | |
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=) |