Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.146340088_146340102delinsGGCTCGCTGAGCCAA | CA1589086773 | POU4F3 | c.661_675delinsGGCTCGCTGAGCCAA (p.Gly221=) | |
5 | g.146340089_146340102del | CA16616765 | POU4F3 | c.662_675del (p.Gly221GlufsTer?) | ClinVar dbSNP |
5 | g.146340102A>C | CA361621827 | POU4F3 | c.675A>C (p.Gln225His) | |
5 | g.146340102A>G | CA447097903 | POU4F3 | c.675A>G (p.Gln225=) | |
5 | g.146340102A>T | CA361621833 | POU4F3 | c.675A>T (p.Gln225His) | ClinVar |
5 | g.146340103A>C | CA361621837 | POU4F3 | c.676A>C (p.Ser226Arg) | |
5 | g.146340103A>G | CA361621836 | POU4F3 | c.676A>G (p.Ser226Gly) | ClinVar |
5 | g.146340103A>T | CA361621835 | POU4F3 | c.676A>T (p.Ser226Cys) | |
5 | g.146340104G>A | CA361621840 | POU4F3 | c.677G>A (p.Ser226Asn) | |
5 | g.146340104G>C | CA361621846 | POU4F3 | c.677G>C (p.Ser226Thr) | |
5 | g.146340104G>T | CA361621843 | POU4F3 | c.677G>T (p.Ser226Ile) | |
5 | g.146340105C>A | CA361621849 | POU4F3 | c.678C>A (p.Ser226Arg) | |
5 | g.146340105C>G | CA361621851 | POU4F3 | c.678C>G (p.Ser226Arg) | |
5 | g.146340105C>T | CA447097907 | POU4F3 | c.678C>T (p.Ser226=) | |
5 | g.146340106A= | CA1589086781 | POU4F3 | c.679A= (p.Thr227=) | |
5 | g.146340106A>C | CA361621853 | POU4F3 | c.679A>C (p.Thr227Pro) | dbSNP |
5 | g.146340106A>G | CA361621859 | POU4F3 | c.679A>G (p.Thr227Ala) | gnomAD v4 |
5 | g.146340106A>T | CA361621860 | POU4F3 | c.679A>T (p.Thr227Ser) | |
5 | g.146340107C>A | CA361621864 | POU4F3 | c.680C>A (p.Thr227Asn) | |
5 | g.146340107C>G | CA361621865 | POU4F3 | c.680C>G (p.Thr227Ser) | |
5 | g.146340107C>T | CA361621866 | POU4F3 | c.680C>T (p.Thr227Ile) | ClinVar dbSNP |
5 | g.146340108del | CA658820753 | POU4F3 | c.681del (p.Ile228SerfsTer14) | |
5 | g.146340108C>A | CA447097909 | POU4F3 | c.681C>A (p.Thr227=) | |
5 | g.146340108C>G | CA447097910 | POU4F3 | c.681C>G (p.Thr227=) | |
5 | g.146340108C>T | CA447097912 | POU4F3 | c.681C>T (p.Thr227=) | gnomAD v4 |
5 | g.146340109A= | CA1589086782 | POU4F3 | c.682A= (p.Ile228=) | |
5 | g.146340109A>C | CA361621868 | POU4F3 | c.682A>C (p.Ile228Leu) | |
5 | g.146340109A>G | CA361621870 | POU4F3 | c.682A>G (p.Ile228Val) | dbSNP gnomAD v4 |
5 | g.146340109A>T | CA361621871 | POU4F3 | c.682A>T (p.Ile228Phe) | |
5 | g.146340110T>A | CA361621875 | POU4F3 | c.683T>A (p.Ile228Asn) | |
5 | g.146340110T>C | CA361621873 | POU4F3 | c.683T>C (p.Ile228Thr) | ClinVar dbSNP |
5 | g.146340110T>G | CA361621874 | POU4F3 | c.683T>G (p.Ile228Ser) | |
5 | g.146340110T= | CA1589086783 | POU4F3 | c.683T= (p.Ile228=) | |
5 | g.146340111C>A | CA447097916 | POU4F3 | c.684C>A (p.Ile228=) | |
5 | g.146340111C= | CA1589086784 | POU4F3 | c.684C= (p.Ile228=) | |
5 | g.146340111C>G | CA361621878 | POU4F3 | c.684C>G (p.Ile228Met) | |
5 | g.146340111C>T | CA447097917 | POU4F3 | c.684C>T (p.Ile228=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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) |