Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.146339673_146340072delinsGG | CA2573139233 | POU4F3 | c.246_645delinsGG (p.Met83GlufsTer?) | ClinVar dbSNP |
5 | g.146340009C>A | CA361621274 | POU4F3 | c.582C>A (p.Phe194Leu) | |
5 | g.146340009C>G | CA361621276 | POU4F3 | c.582C>G (p.Phe194Leu) | |
5 | g.146340009C>T | CA447097832 | POU4F3 | c.582C>T (p.Phe194=) | |
5 | g.146340010A>C | CA361621279 | POU4F3 | c.583A>C (p.Lys195Gln) | |
5 | g.146340010A>G | CA361621282 | POU4F3 | c.583A>G (p.Lys195Glu) | |
5 | g.146340010A>T | CA361621284 | POU4F3 | c.583A>T (p.Lys195Ter) | |
5 | g.146340011A>C | CA361621288 | POU4F3 | c.584A>C (p.Lys195Thr) | |
5 | g.146340011A>G | CA361621293 | POU4F3 | c.584A>G (p.Lys195Arg) | |
5 | g.146340011A>T | CA361621290 | POU4F3 | c.584A>T (p.Lys195Met) | |
5 | g.146340012G>A | CA447097834 | POU4F3 | c.585G>A (p.Lys195=) | dbSNP gnomAD v4 |
5 | g.146340012G>C | CA361621297 | POU4F3 | c.585G>C (p.Lys195Asn) | |
5 | g.146340012G= | CA1589086733 | POU4F3 | c.585G= (p.Lys195=) | |
5 | g.146340012G>T | CA361621299 | POU4F3 | c.585G>T (p.Lys195Asn) | |
5 | g.146340013C>A | CA361621302 | POU4F3 | c.586C>A (p.Gln196Lys) | |
5 | g.146340013C>G | CA361621304 | POU4F3 | c.586C>G (p.Gln196Glu) | |
5 | g.146340013C>T | CA361621307 | POU4F3 | c.586C>T (p.Gln196Ter) | |
5 | g.146340014A>C | CA361621309 | POU4F3 | c.587A>C (p.Gln196Pro) | |
5 | g.146340014A>G | CA361621311 | POU4F3 | c.587A>G (p.Gln196Arg) | |
5 | g.146340014A>T | CA361621312 | POU4F3 | c.587A>T (p.Gln196Leu) | |
5 | g.146340015G>A | CA447097837 | POU4F3 | c.588G>A (p.Gln196=) | |
5 | g.146340015G>C | CA361621315 | POU4F3 | c.588G>C (p.Gln196His) | |
5 | g.146340015G>T | CA361621317 | POU4F3 | c.588G>T (p.Gln196His) | |
5 | g.146340016C>A | CA3491168 | POU4F3 | c.589C>A (p.Arg197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.146340016C= | CA1589086734 | POU4F3 | c.589C= (p.Arg197=) | |
5 | g.146340016C>G | CA361621326 | POU4F3 | c.589C>G (p.Arg197Gly) | dbSNP |
5 | g.146340016C>T | CA361621323 | POU4F3 | c.589C>T (p.Arg197Trp) | dbSNP gnomAD v2 |
5 | g.146340017G>A | CA361621329 | POU4F3 | c.590G>A (p.Arg197Gln) | |
5 | g.146340017G>C | CA361621334 | POU4F3 | c.590G>C (p.Arg197Pro) | ClinVar dbSNP |
5 | g.146340017G>T | CA361621331 | POU4F3 | c.590G>T (p.Arg197Leu) | COSMIC |
5 | g.146340018G>A | CA10623125 | POU4F3 | c.591G>A (p.Arg197=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.146340018G>C | CA447097771 | POU4F3 | c.591G>C (p.Arg197=) | dbSNP |
5 | g.146340018G= | CA1589086735 | POU4F3 | c.591G= (p.Arg197=) | |
5 | g.146340018G>T | CA447097772 | POU4F3 | c.591G>T (p.Arg197=) | |
5 | g.146340019C>A | CA361621342 | POU4F3 | c.592C>A (p.Arg198Ser) | |
5 | g.146340019C= | CA1589086736 | POU4F3 | c.592C= (p.Arg198=) | |
5 | g.146340019C>G | CA361621339 | POU4F3 | c.592C>G (p.Arg198Gly) | |
5 | g.146340019C>T | CA361621340 | POU4F3 | c.592C>T (p.Arg198Cys) | |
5 | g.146340020G>A | CA361621345 | POU4F3 | c.593G>A (p.Arg198His) | ClinVar dbSNP gnomAD v4 |
5 | g.146340020G>C | CA361621347 | POU4F3 | c.593G>C (p.Arg198Pro) | gnomAD v4 |
5 | g.146340020G= | CA1589086737 | POU4F3 | c.593G= (p.Arg198=) | |
5 | g.146340020G>T | CA361621350 | POU4F3 | c.593G>T (p.Arg198Leu) | |
5 | g.146340020_146340021insAAGG | CA917602691 | POU4F3 | c.593_594insAAGG (p.Ile199ArgfsTer17) | dbSNP |
5 | g.146340021C>A | CA447097776 | POU4F3 | c.594C>A (p.Arg198=) | |
5 | g.146340021C>G | CA447097777 | POU4F3 | c.594C>G (p.Arg198=) | |
5 | g.146340021C>T | CA447097778 | POU4F3 | c.594C>T (p.Arg198=) | |
5 | g.146340022A= | CA1589086738 | POU4F3 | c.595A= (p.Ile199=) | |
5 | g.146340022A>C | CA361621353 | POU4F3 | c.595A>C (p.Ile199Leu) | |
5 | g.146340022A>G | CA361621354 | POU4F3 | c.595A>G (p.Ile199Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.146340022A>T | CA361621359 | POU4F3 | c.595A>T (p.Ile199Phe) | dbSNP |