Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.146340207A>C | CA447098059 | POU4F3 | c.780A>C (p.Arg260=) | |
5 | g.146340207A>G | CA447098063 | POU4F3 | c.780A>G (p.Arg260=) | |
5 | g.146340207A>T | CA447098061 | POU4F3 | c.780A>T (p.Arg260=) | |
5 | g.146340208G>A | CA3491197 | POU4F3 | c.781G>A (p.Glu261Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.146340208G>C | CA361622323 | POU4F3 | c.781G>C (p.Glu261Gln) | |
5 | g.146340208G= | CA1589086831 | POU4F3 | c.781G= (p.Glu261=) | |
5 | g.146340208G>T | CA361622326 | POU4F3 | c.781G>T (p.Glu261Ter) | |
5 | g.146340208_146340211delinsGAGA | CA1589086830 | POU4F3 | c.781_784delinsGAGA (p.Glu261=) | |
5 | g.146340209A>C | CA361622339 | POU4F3 | c.782A>C (p.Glu261Ala) | |
5 | g.146340209A>G | CA361622331 | POU4F3 | c.782A>G (p.Glu261Gly) | |
5 | g.146340209A>T | CA361622337 | POU4F3 | c.782A>T (p.Glu261Val) | |
5 | g.146340213_146340215del | CA3491198 | POU4F3 | c.786_788del (p.Lys262del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.146340210G>A | CA3491199 | POU4F3 | c.783G>A (p.Glu261=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.146340210G>C | CA128861284 | POU4F3 | c.783G>C (p.Glu261Asp) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.146340210G= | CA1589086832 | POU4F3 | c.783G= (p.Glu261=) | |
5 | g.146340210G>T | CA361622344 | POU4F3 | c.783G>T (p.Glu261Asp) | |
5 | g.146340211A>C | CA361622347 | POU4F3 | c.784A>C (p.Lys262Gln) | |
5 | g.146340211A>G | CA361622349 | POU4F3 | c.784A>G (p.Lys262Glu) | |
5 | g.146340211A>T | CA361622352 | POU4F3 | c.784A>T (p.Lys262Ter) | |
5 | g.146340212A= | CA1589086833 | POU4F3 | c.785A= (p.Lys262=) | |
5 | g.146340212A>C | CA3491200 | POU4F3 | c.785A>C (p.Lys262Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.146340212A>G | CA361622358 | POU4F3 | c.785A>G (p.Lys262Arg) | |
5 | g.146340212A>T | CA361622359 | POU4F3 | c.785A>T (p.Lys262Met) | |
5 | g.146340213G>A | CA447098070 | POU4F3 | c.786G>A (p.Lys262=) | |
5 | g.146340213G>C | CA361622362 | POU4F3 | c.786G>C (p.Lys262Asn) | |
5 | g.146340213G>T | CA361622364 | POU4F3 | c.786G>T (p.Lys262Asn) | |
5 | g.146340214A>C | CA361622365 | POU4F3 | c.787A>C (p.Asn263His) | |
5 | g.146340214A>G | CA361622366 | POU4F3 | c.787A>G (p.Asn263Asp) | |
5 | g.146340214A>T | CA361622369 | POU4F3 | c.787A>T (p.Asn263Tyr) | |
5 | g.146340215A>C | CA361622377 | POU4F3 | c.788A>C (p.Asn263Thr) | |
5 | g.146340215A>G | CA361622372 | POU4F3 | c.788A>G (p.Asn263Ser) | |
5 | g.146340215A>T | CA361622375 | POU4F3 | c.788A>T (p.Asn263Ile) | |
5 | g.146340216C>A | CA361622380 | POU4F3 | c.789C>A (p.Asn263Lys) | |
5 | g.146340216C= | CA1589086834 | POU4F3 | c.789C= (p.Asn263=) | |
5 | g.146340216C>G | CA361622382 | POU4F3 | c.789C>G (p.Asn263Lys) | |
5 | g.146340216C>T | CA447098074 | POU4F3 | c.789C>T (p.Asn263=) | dbSNP gnomAD v4 |
5 | g.146340217A>C | CA361622386 | POU4F3 | c.790A>C (p.Ser264Arg) | |
5 | g.146340217A>G | CA361622387 | POU4F3 | c.790A>G (p.Ser264Gly) | |
5 | g.146340217A>T | CA361622390 | POU4F3 | c.790A>T (p.Ser264Cys) | |
5 | g.146340218G>A | CA3491201 | POU4F3 | c.791G>A (p.Ser264Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.146340218G>C | CA361622393 | POU4F3 | c.791G>C (p.Ser264Thr) | |
5 | g.146340218G= | CA1589086835 | POU4F3 | c.791G= (p.Ser264=) | |
5 | g.146340218G>T | CA361622395 | POU4F3 | c.791G>T (p.Ser264Ile) | |
5 | g.146340219C>A | CA3491203 | POU4F3 | c.792C>A (p.Ser264Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.146340219C= | CA1589086836 | POU4F3 | c.792C= (p.Ser264=) | |
5 | g.146340219C>G | CA361622401 | POU4F3 | c.792C>G (p.Ser264Arg) | |
5 | g.146340219C>T | CA3491202 | POU4F3 | c.792C>T (p.Ser264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.146340220A= | CA1589086837 | POU4F3 | c.793A= (p.Lys265=) | |
5 | g.146340220A>C | CA361622410 | POU4F3 | c.793A>C (p.Lys265Gln) | |
5 | g.146340220A>G | CA361622407 | POU4F3 | c.793A>G (p.Lys265Glu) | dbSNP gnomAD v3 gnomAD v4 |