| 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.146340095T>A | CA361621779 | POU4F3 | c.668T>A (p.Leu223Gln) | |
| 5 | g.146340095T>C | CA254102 | POU4F3 | c.668T>C (p.Leu223Pro) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340095T>G | CA361621782 | POU4F3 | c.668T>G (p.Leu223Arg) | |
| 5 | g.146340095T= | CA1589086779 | POU4F3 | c.668T= (p.Leu223=) | |
| 5 | g.146340096G>A | CA3491181 | POU4F3 | c.669G>A (p.Leu223=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340096G>C | CA447097898 | POU4F3 | c.669G>C (p.Leu223=) | |
| 5 | g.146340096G= | CA1589086780 | POU4F3 | c.669G= (p.Leu223=) | |
| 5 | g.146340096G>T | CA447097897 | POU4F3 | c.669G>T (p.Leu223=) | |
| 5 | g.146340097A>C | CA361621787 | POU4F3 | c.670A>C (p.Ser224Arg) | |
| 5 | g.146340097A>G | CA361621791 | POU4F3 | c.670A>G (p.Ser224Gly) | |
| 5 | g.146340097A>T | CA361621793 | POU4F3 | c.670A>T (p.Ser224Cys) | |
| 5 | g.146340098G>A | CA361621795 | POU4F3 | c.671G>A (p.Ser224Asn) | |
| 5 | g.146340098G>C | CA361621799 | POU4F3 | c.671G>C (p.Ser224Thr) | |
| 5 | g.146340098G>T | CA361621797 | POU4F3 | c.671G>T (p.Ser224Ile) | |
| 5 | g.146340099C>A | CA361621801 | POU4F3 | c.672C>A (p.Ser224Arg) | |
| 5 | g.146340099C>G | CA361621803 | POU4F3 | c.672C>G (p.Ser224Arg) | |
| 5 | g.146340099C>T | CA447097902 | POU4F3 | c.672C>T (p.Ser224=) | |
| 5 | g.146340100C>A | CA361621806 | POU4F3 | c.673C>A (p.Gln225Lys) | |
| 5 | g.146340100C>G | CA361621807 | POU4F3 | c.673C>G (p.Gln225Glu) | |
| 5 | g.146340100C>T | CA361621811 | POU4F3 | c.673C>T (p.Gln225Ter) | |
| 5 | g.146340101A>C | CA361621813 | POU4F3 | c.674A>C (p.Gln225Pro) | |
| 5 | g.146340101A>G | CA361621814 | POU4F3 | c.674A>G (p.Gln225Arg) | ClinVar |
| 5 | g.146340101A>T | CA361621817 | POU4F3 | c.674A>T (p.Gln225Leu) | |
| 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) |