| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87264323A= | CA1381535021 | POU1F1 | c.482T= (p.Phe161=) c.404T= (p.Phe135=) c.215-2088T= (n.215-2088T=) | |
| 3 | g.87264323A>C | CA250614 | POU1F1 | c.482T>G (p.Phe161Cys) c.404T>G (p.Phe135Cys) c.215-2088T>G (n.215-2088T>G) | ClinVar dbSNP |
| 3 | g.87264323A>G | CA353693617 | POU1F1 | c.482T>C (p.Phe161Ser) c.404T>C (p.Phe135Ser) c.215-2088T>C (n.215-2088T>C) | |
| 3 | g.87264323A>T | CA353693614 | POU1F1 | c.482T>A (p.Phe161Tyr) c.404T>A (p.Phe135Tyr) c.215-2088T>A (n.215-2088T>A) | |
| 3 | g.87264324A>C | CA353693622 | POU1F1 | c.481T>G (p.Phe161Val) c.403T>G (p.Phe135Val) c.215-2089T>G (n.215-2089T>G) | |
| 3 | g.87264324A>G | CA353693618 | POU1F1 | c.481T>C (p.Phe161Leu) c.403T>C (p.Phe135Leu) c.215-2089T>C (n.215-2089T>C) | |
| 3 | g.87264324A>T | CA353693624 | POU1F1 | c.481T>A (p.Phe161Ile) c.403T>A (p.Phe135Ile) c.215-2089T>A (n.215-2089T>A) | COSMIC |
| 3 | g.87264325C>A | CA353693630 | POU1F1 | c.480G>T (p.Lys160Asn) c.402G>T (p.Lys134Asn) c.215-2090G>T (n.215-2090G>T) | |
| 3 | g.87264325C>G | CA353693634 | POU1F1 | c.480G>C (p.Lys160Asn) c.402G>C (p.Lys134Asn) c.215-2090G>C (n.215-2090G>C) | |
| 3 | g.87264325C>T | CA434627012 | POU1F1 | c.480G>A (p.Lys160=) c.402G>A (p.Lys134=) c.215-2090G>A (n.215-2090G>A) | gnomAD v4 |
| 3 | g.87264326T>A | CA353693637 | POU1F1 | c.479A>T (p.Lys160Met) c.401A>T (p.Lys134Met) c.215-2091A>T (n.215-2091A>T) | |
| 3 | g.87264326T>C | CA353693638 | POU1F1 | c.479A>G (p.Lys160Arg) c.401A>G (p.Lys134Arg) c.215-2091A>G (n.215-2091A>G) | |
| 3 | g.87264326T>G | CA353693639 | POU1F1 | c.479A>C (p.Lys160Thr) c.401A>C (p.Lys134Thr) c.215-2091A>C (n.215-2091A>C) | |
| 3 | g.87264328_87264329del | CA2666629900 | POU1F1 | c.478_479del (p.Lys160ValfsTer4) c.400_401del (p.Lys134ValfsTer4) c.215-2092_215-2091del (n.215-2092_215-2091del) | gnomAD v4 |
| 3 | g.87264327T>A | CA353693640 | POU1F1 | c.478A>T (p.Lys160Ter) c.400A>T (p.Lys134Ter) c.215-2092A>T (n.215-2092A>T) | |
| 3 | g.87264327T>C | CA353693642 | POU1F1 | c.478A>G (p.Lys160Glu) c.400A>G (p.Lys134Glu) c.215-2092A>G (n.215-2092A>G) | |
| 3 | g.87264327T>G | CA353693643 | POU1F1 | c.478A>C (p.Lys160Gln) c.400A>C (p.Lys134Gln) c.215-2092A>C (n.215-2092A>C) | |
| 3 | g.87264328T>A | CA353693645 | POU1F1 | c.477A>T (p.Glu159Asp) c.399A>T (p.Glu133Asp) c.215-2093A>T (n.215-2093A>T) | |
| 3 | g.87264328T>C | CA434627019 | POU1F1 | c.477A>G (p.Glu159=) c.399A>G (p.Glu133=) c.215-2093A>G (n.215-2093A>G) | dbSNP |
| 3 | g.87264328T>G | CA353693647 | POU1F1 | c.477A>C (p.Glu159Asp) c.399A>C (p.Glu133Asp) c.215-2093A>C (n.215-2093A>C) | |
| 3 | g.87264328T= | CA1381535026 | POU1F1 | c.477A= (p.Glu159=) c.399A= (p.Glu133=) c.215-2093A= (n.215-2093A=) | |
| 3 | g.87264329T>A | CA353693650 | POU1F1 | c.476A>T (p.Glu159Val) c.398A>T (p.Glu133Val) c.215-2094A>T (n.215-2094A>T) | |
| 3 | g.87264329T>C | CA353693652 | POU1F1 | c.476A>G (p.Glu159Gly) c.398A>G (p.Glu133Gly) c.215-2094A>G (n.215-2094A>G) | |
| 3 | g.87264329T>G | CA2501218 | POU1F1 | c.476A>C (p.Glu159Ala) c.398A>C (p.Glu133Ala) c.215-2094A>C (n.215-2094A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87264329T= | CA1381535031 | POU1F1 | c.476A= (p.Glu159=) c.398A= (p.Glu133=) c.215-2094A= (n.215-2094A=) | |
| 3 | g.87264330C>A | CA353693671 | POU1F1 | c.475G>T (p.Glu159Ter) c.397G>T (p.Glu133Ter) c.215-2095G>T (n.215-2095G>T) | |
| 3 | g.87264330C>G | CA353693656 | POU1F1 | c.475G>C (p.Glu159Gln) c.397G>C (p.Glu133Gln) c.215-2095G>C (n.215-2095G>C) | |
| 3 | g.87264330C>T | CA353693658 | POU1F1 | c.475G>A (p.Glu159Lys) c.397G>A (p.Glu133Lys) c.215-2095G>A (n.215-2095G>A) | COSMIC COSMIC |
| 3 | g.87264331A>C | CA434627021 | POU1F1 | c.474T>G (p.Leu158=) c.396T>G (p.Leu132=) c.215-2096T>G (n.215-2096T>G) | |
| 3 | g.87264331A>G | CA434627022 | POU1F1 | c.474T>C (p.Leu158=) c.396T>C (p.Leu132=) c.215-2096T>C (n.215-2096T>C) | |
| 3 | g.87264331A>T | CA434627023 | POU1F1 | c.474T>A (p.Leu158=) c.396T>A (p.Leu132=) c.215-2096T>A (n.215-2096T>A) | |
| 3 | g.87264332A= | CA1381535034 | POU1F1 | c.473T= (p.Leu158=) c.395T= (p.Leu132=) c.215-2097T= (n.215-2097T=) | |
| 3 | g.87264332A>C | CA353693672 | POU1F1 | c.473T>G (p.Leu158Arg) c.395T>G (p.Leu132Arg) c.215-2097T>G (n.215-2097T>G) | |
| 3 | g.87264332A>G | CA353693673 | POU1F1 | c.473T>C (p.Leu158Pro) c.395T>C (p.Leu132Pro) c.215-2097T>C (n.215-2097T>C) | gnomAD v4 |
| 3 | g.87264332A>T | CA79036902 | POU1F1 | c.473T>A (p.Leu158His) c.395T>A (p.Leu132His) c.215-2097T>A (n.215-2097T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.87264333G>A | CA353693677 | POU1F1 | c.472C>T (p.Leu158Phe) c.394C>T (p.Leu132Phe) c.215-2098C>T (n.215-2098C>T) | |
| 3 | g.87264333G>C | CA353693679 | POU1F1 | c.472C>G (p.Leu158Val) c.394C>G (p.Leu132Val) c.215-2098C>G (n.215-2098C>G) | |
| 3 | g.87264333G>T | CA353693681 | POU1F1 | c.472C>A (p.Leu158Ile) c.394C>A (p.Leu132Ile) c.215-2098C>A (n.215-2098C>A) | gnomAD v4 |
| 3 | g.87264333_87264338del | CA2666629901 | POU1F1 | c.467_472del (p.Arg156_Leu158delinsIle) c.389_394del (p.Arg130_Leu132delinsIle) c.215-2103_215-2098del (n.215-2103_215-2098del) | gnomAD v4 |
| 3 | g.87264334T>A | CA353693683 | POU1F1 | c.471A>T (p.Glu157Asp) c.393A>T (p.Glu131Asp) c.215-2099A>T (n.215-2099A>T) | |
| 3 | g.87264334T>C | CA434627027 | POU1F1 | c.471A>G (p.Glu157=) c.393A>G (p.Glu131=) c.215-2099A>G (n.215-2099A>G) | dbSNP |
| 3 | g.87264334T>G | CA353693684 | POU1F1 | c.471A>C (p.Glu157Asp) c.393A>C (p.Glu131Asp) c.215-2099A>C (n.215-2099A>C) | |
| 3 | g.87264334T= | CA1381535036 | POU1F1 | c.471A= (p.Glu157=) c.393A= (p.Glu131=) c.215-2099A= (n.215-2099A=) | |
| 3 | g.87264335T>A | CA353693685 | POU1F1 | c.470A>T (p.Glu157Val) c.392A>T (p.Glu131Val) c.215-2100A>T (n.215-2100A>T) | |
| 3 | g.87264335T>C | CA353693687 | POU1F1 | c.470A>G (p.Glu157Gly) c.392A>G (p.Glu131Gly) c.215-2100A>G (n.215-2100A>G) | |
| 3 | g.87264335T>G | CA353693688 | POU1F1 | c.470A>C (p.Glu157Ala) c.392A>C (p.Glu131Ala) c.215-2100A>C (n.215-2100A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.87264335T= | CA1381535039 | POU1F1 | c.470A= (p.Glu157=) c.392A= (p.Glu131=) c.215-2100A= (n.215-2100A=) | |
| 3 | g.87264336C>A | CA353693701 | POU1F1 | c.469G>T (p.Glu157Ter) c.391G>T (p.Glu131Ter) c.215-2101G>T (n.215-2101G>T) | COSMIC COSMIC |
| 3 | g.87264336C= | CA1381535042 | POU1F1 | c.469G= (p.Glu157=) c.391G= (p.Glu131=) c.215-2101G= (n.215-2101G=) | |
| 3 | g.87264336C>G | CA353693698 | POU1F1 | c.469G>C (p.Glu157Gln) c.391G>C (p.Glu131Gln) c.215-2101G>C (n.215-2101G>C) |