| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87262098A= | CA1381532945 | POU1F1 | c.655T= (p.Trp219=) c.577T= (p.Trp193=) c.440-1994T= (n.440-1994T=) c.352T= (p.Trp118=) | |
| 3 | g.87262098A>C | CA353692752 | POU1F1 | c.655T>G (p.Trp219Gly) c.577T>G (p.Trp193Gly) c.440-1994T>G (n.440-1994T>G) c.352T>G (p.Trp118Gly) | |
| 3 | g.87262098A>G | CA250619 | POU1F1 | c.655T>C (p.Trp219Arg) c.577T>C (p.Trp193Arg) c.440-1994T>C (n.440-1994T>C) c.352T>C (p.Trp118Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87262098A>T | CA353692753 | POU1F1 | c.655T>A (p.Trp219Arg) c.577T>A (p.Trp193Arg) c.440-1994T>A (n.440-1994T>A) c.352T>A (p.Trp118Arg) | |
| 3 | g.87262099T>A | CA353692754 | POU1F1 | c.654A>T (p.Lys218Asn) c.576A>T (p.Lys192Asn) c.440-1995A>T (n.440-1995A>T) c.351A>T (p.Lys117Asn) | |
| 3 | g.87262099T>C | CA434575682 | POU1F1 | c.654A>G (p.Lys218=) c.576A>G (p.Lys192=) c.440-1995A>G (n.440-1995A>G) c.351A>G (p.Lys117=) | |
| 3 | g.87262099T>G | CA353692755 | POU1F1 | c.654A>C (p.Lys218Asn) c.576A>C (p.Lys192Asn) c.440-1995A>C (n.440-1995A>C) c.351A>C (p.Lys117Asn) | |
| 3 | g.87262100T>A | CA353692756 | POU1F1 | c.653A>T (p.Lys218Ile) c.575A>T (p.Lys192Ile) c.440-1996A>T (n.440-1996A>T) c.350A>T (p.Lys117Ile) | |
| 3 | g.87262100T>C | CA353692757 | POU1F1 | c.653A>G (p.Lys218Arg) c.575A>G (p.Lys192Arg) c.440-1996A>G (n.440-1996A>G) c.350A>G (p.Lys117Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.87262100T>G | CA353692758 | POU1F1 | c.653A>C (p.Lys218Thr) c.575A>C (p.Lys192Thr) c.440-1996A>C (n.440-1996A>C) c.350A>C (p.Lys117Thr) | |
| 3 | g.87262100T= | CA1381532950 | POU1F1 | c.653A= (p.Lys218=) c.575A= (p.Lys192=) c.440-1996A= (n.440-1996A=) c.350A= (p.Lys117=) | |
| 3 | g.87262101T>A | CA353692759 | POU1F1 | c.652A>T (p.Lys218Ter) c.574A>T (p.Lys192Ter) c.440-1997A>T (n.440-1997A>T) c.349A>T (p.Lys117Ter) | |
| 3 | g.87262101T>C | CA353692760 | POU1F1 | c.652A>G (p.Lys218Glu) c.574A>G (p.Lys192Glu) c.440-1997A>G (n.440-1997A>G) c.349A>G (p.Lys117Glu) | gnomAD v3 gnomAD v4 |
| 3 | g.87262101T>G | CA353692761 | POU1F1 | c.652A>C (p.Lys218Gln) c.574A>C (p.Lys192Gln) c.440-1997A>C (n.440-1997A>C) c.349A>C (p.Lys117Gln) | |
| 3 | g.87262102G>A | CA434575683 | POU1F1 | c.651C>T (p.Ser217=) c.573C>T (p.Ser191=) c.440-1998C>T (n.440-1998C>T) c.348C>T (p.Ser116=) | |
| 3 | g.87262102G>C | CA434575684 | POU1F1 | c.651C>G (p.Ser217=) c.573C>G (p.Ser191=) c.440-1998C>G (n.440-1998C>G) c.348C>G (p.Ser116=) | |
| 3 | g.87262102G= | CA1381532954 | POU1F1 | c.651C= (p.Ser217=) c.573C= (p.Ser191=) c.440-1998C= (n.440-1998C=) c.348C= (p.Ser116=) | |
| 3 | g.87262102G>T | CA2501157 | POU1F1 | c.651C>A (p.Ser217=) c.573C>A (p.Ser191=) c.440-1998C>A (n.440-1998C>A) c.348C>A (p.Ser116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87262103G>A | CA353692764 | POU1F1 | c.650C>T (p.Ser217Phe) c.572C>T (p.Ser191Phe) c.440-1999C>T (n.440-1999C>T) c.347C>T (p.Ser116Phe) | |
| 3 | g.87262103G>C | CA353692763 | POU1F1 | c.650C>G (p.Ser217Cys) c.572C>G (p.Ser191Cys) c.440-1999C>G (n.440-1999C>G) c.347C>G (p.Ser116Cys) | |
| 3 | g.87262103G= | CA1381532958 | POU1F1 | c.650C= (p.Ser217=) c.572C= (p.Ser191=) c.440-1999C= (n.440-1999C=) c.347C= (p.Ser116=) | |
| 3 | g.87262103G>T | CA353692762 | POU1F1 | c.650C>A (p.Ser217Tyr) c.572C>A (p.Ser191Tyr) c.440-1999C>A (n.440-1999C>A) c.347C>A (p.Ser116Tyr) | dbSNP |
| 3 | g.87262104A>C | CA353692767 | POU1F1 | c.649T>G (p.Ser217Ala) c.571T>G (p.Ser191Ala) c.440-2000T>G (n.440-2000T>G) c.346T>G (p.Ser116Ala) | |
| 3 | g.87262104A>G | CA353692765 | POU1F1 | c.649T>C (p.Ser217Pro) c.571T>C (p.Ser191Pro) c.440-2000T>C (n.440-2000T>C) c.346T>C (p.Ser116Pro) | gnomAD v4 |
| 3 | g.87262104A>T | CA353692766 | POU1F1 | c.649T>A (p.Ser217Thr) c.571T>A (p.Ser191Thr) c.440-2000T>A (n.440-2000T>A) c.346T>A (p.Ser116Thr) | |
| 3 | g.87262105T>A | CA353692768 | POU1F1 | c.648A>T (p.Leu216Phe) c.570A>T (p.Leu190Phe) c.440-2001A>T (n.440-2001A>T) c.345A>T (p.Leu115Phe) | |
| 3 | g.87262105T>C | CA2501158 | POU1F1 | c.648A>G (p.Leu216=) c.570A>G (p.Leu190=) c.440-2001A>G (n.440-2001A>G) c.345A>G (p.Leu115=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87262105T>G | CA353692769 | POU1F1 | c.648A>C (p.Leu216Phe) c.570A>C (p.Leu190Phe) c.440-2001A>C (n.440-2001A>C) c.345A>C (p.Leu115Phe) | |
| 3 | g.87262105T= | CA1381532960 | POU1F1 | c.648A= (p.Leu216=) c.570A= (p.Leu190=) c.440-2001A= (n.440-2001A=) c.345A= (p.Leu115=) | |
| 3 | g.87262106A>C | CA353692772 | POU1F1 | c.647T>G (p.Leu216Ter) c.569T>G (p.Leu190Ter) c.440-2002T>G (n.440-2002T>G) c.344T>G (p.Leu115Ter) | |
| 3 | g.87262106A>G | CA353692771 | POU1F1 | c.647T>C (p.Leu216Ser) c.569T>C (p.Leu190Ser) c.440-2002T>C (n.440-2002T>C) c.344T>C (p.Leu115Ser) | |
| 3 | g.87262106A>T | CA353692770 | POU1F1 | c.647T>A (p.Leu216Ter) c.569T>A (p.Leu190Ter) c.440-2002T>A (n.440-2002T>A) c.344T>A (p.Leu115Ter) | |
| 3 | g.87262107A>C | CA353692773 | POU1F1 | c.646T>G (p.Leu216Val) c.568T>G (p.Leu190Val) c.440-2003T>G (n.440-2003T>G) c.343T>G (p.Leu115Val) | |
| 3 | g.87262107A>G | CA434575685 | POU1F1 | c.646T>C (p.Leu216=) c.568T>C (p.Leu190=) c.440-2003T>C (n.440-2003T>C) c.343T>C (p.Leu115=) | |
| 3 | g.87262107A>T | CA353692774 | POU1F1 | c.646T>A (p.Leu216Ile) c.568T>A (p.Leu190Ile) c.440-2003T>A (n.440-2003T>A) c.343T>A (p.Leu115Ile) | |
| 3 | g.87262108T>A | CA434575686 | POU1F1 | c.645A>T (p.Ile215=) c.567A>T (p.Ile189=) c.440-2004A>T (n.440-2004A>T) c.342A>T (p.Ile114=) | |
| 3 | g.87262108T>C | CA2501159 | POU1F1 | c.645A>G (p.Ile215Met) c.567A>G (p.Ile189Met) c.440-2004A>G (n.440-2004A>G) c.342A>G (p.Ile114Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87262108T>G | CA434575687 | POU1F1 | c.645A>C (p.Ile215=) c.567A>C (p.Ile189=) c.440-2004A>C (n.440-2004A>C) c.342A>C (p.Ile114=) | |
| 3 | g.87262108T= | CA1381532964 | POU1F1 | c.645A= (p.Ile215=) c.567A= (p.Ile189=) c.440-2004A= (n.440-2004A=) c.342A= (p.Ile114=) | |
| 3 | g.87262109A>C | CA353692775 | POU1F1 | c.644T>G (p.Ile215Arg) c.566T>G (p.Ile189Arg) c.440-2005T>G (n.440-2005T>G) c.341T>G (p.Ile114Arg) | |
| 3 | g.87262109A>G | CA353692776 | POU1F1 | c.644T>C (p.Ile215Thr) c.566T>C (p.Ile189Thr) c.440-2005T>C (n.440-2005T>C) c.341T>C (p.Ile114Thr) | |
| 3 | g.87262109A>T | CA353692777 | POU1F1 | c.644T>A (p.Ile215Lys) c.566T>A (p.Ile189Lys) c.440-2005T>A (n.440-2005T>A) c.341T>A (p.Ile114Lys) | |
| 3 | g.87262110T>A | CA353692778 | POU1F1 | c.643A>T (p.Ile215Leu) c.565A>T (p.Ile189Leu) c.440-2006A>T (n.440-2006A>T) c.340A>T (p.Ile114Leu) | |
| 3 | g.87262110T>C | CA353692780 | POU1F1 | c.643A>G (p.Ile215Val) c.565A>G (p.Ile189Val) c.440-2006A>G (n.440-2006A>G) c.340A>G (p.Ile114Val) | |
| 3 | g.87262110T>G | CA353692779 | POU1F1 | c.643A>C (p.Ile215Leu) c.565A>C (p.Ile189Leu) c.440-2006A>C (n.440-2006A>C) c.340A>C (p.Ile114Leu) | |
| 3 | g.87262111T>A | CA434575688 | POU1F1 | c.642A>T (p.Ala214=) c.564A>T (p.Ala188=) c.440-2007A>T (n.440-2007A>T) c.339A>T (p.Ala113=) | |
| 3 | g.87262111T>C | CA434575689 | POU1F1 | c.642A>G (p.Ala214=) c.564A>G (p.Ala188=) c.440-2007A>G (n.440-2007A>G) c.339A>G (p.Ala113=) | |
| 3 | g.87262111T>G | CA434575690 | POU1F1 | c.642A>C (p.Ala214=) c.564A>C (p.Ala188=) c.440-2007A>C (n.440-2007A>C) c.339A>C (p.Ala113=) | |
| 3 | g.87262112G>A | CA353692781 | POU1F1 | c.641C>T (p.Ala214Val) c.563C>T (p.Ala188Val) c.440-2008C>T (n.440-2008C>T) c.338C>T (p.Ala113Val) | gnomAD v4 |
| 3 | g.87262112G>C | CA353692782 | POU1F1 | c.641C>G (p.Ala214Gly) c.563C>G (p.Ala188Gly) c.440-2008C>G (n.440-2008C>G) c.338C>G (p.Ala113Gly) |