Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
3 | g.87262112G>T | CA353692783 | POU1F1 | c.641C>A (p.Ala214Glu) c.563C>A (p.Ala188Glu) c.440-2008C>A (n.440-2008C>A) c.338C>A (p.Ala113Glu) | |
3 | g.87262113C>A | CA353692784 | POU1F1 | c.640G>T (p.Ala214Ser) c.562G>T (p.Ala188Ser) c.440-2009G>T (n.440-2009G>T) c.337G>T (p.Ala113Ser) | COSMIC COSMIC |
3 | g.87262113C>G | CA353692785 | POU1F1 | c.640G>C (p.Ala214Pro) c.562G>C (p.Ala188Pro) c.440-2009G>C (n.440-2009G>C) c.337G>C (p.Ala113Pro) | |
3 | g.87262113C>T | CA353692786 | POU1F1 | c.640G>A (p.Ala214Thr) c.562G>A (p.Ala188Thr) c.440-2009G>A (n.440-2009G>A) c.337G>A (p.Ala113Thr) | gnomAD v4 |
3 | g.87262114T>A | CA353692787 | POU1F1 | c.639A>T (p.Lys213Asn) c.561A>T (p.Lys187Asn) c.440-2010A>T (n.440-2010A>T) c.336A>T (p.Lys112Asn) | |
3 | g.87262114T>C | CA434575691 | POU1F1 | c.639A>G (p.Lys213=) c.561A>G (p.Lys187=) c.440-2010A>G (n.440-2010A>G) c.336A>G (p.Lys112=) | |
3 | g.87262114T>G | CA353692788 | POU1F1 | c.639A>C (p.Lys213Asn) c.561A>C (p.Lys187Asn) c.440-2010A>C (n.440-2010A>C) c.336A>C (p.Lys112Asn) | |
3 | g.87262115T>A | CA353692789 | POU1F1 | c.638A>T (p.Lys213Ile) c.560A>T (p.Lys187Ile) c.440-2011A>T (n.440-2011A>T) c.335A>T (p.Lys112Ile) | |
3 | g.87262115T>C | CA353692790 | POU1F1 | c.638A>G (p.Lys213Arg) c.560A>G (p.Lys187Arg) c.440-2011A>G (n.440-2011A>G) c.335A>G (p.Lys112Arg) | |
3 | g.87262115T>G | CA353692791 | POU1F1 | c.638A>C (p.Lys213Thr) c.560A>C (p.Lys187Thr) c.440-2011A>C (n.440-2011A>C) c.335A>C (p.Lys112Thr) | |
3 | g.87262116T>A | CA353692793 | POU1F1 | c.637A>T (p.Lys213Ter) c.559A>T (p.Lys187Ter) c.440-2012A>T (n.440-2012A>T) c.334A>T (p.Lys112Ter) | |
3 | g.87262116T>C | CA2501160 | POU1F1 | c.637A>G (p.Lys213Glu) c.559A>G (p.Lys187Glu) c.440-2012A>G (n.440-2012A>G) c.334A>G (p.Lys112Glu) | dbSNP ExAC gnomAD v2 |
3 | g.87262116T>G | CA353692792 | POU1F1 | c.637A>C (p.Lys213Gln) c.559A>C (p.Lys187Gln) c.440-2012A>C (n.440-2012A>C) c.334A>C (p.Lys112Gln) | dbSNP |
3 | g.87262116T= | CA1381532967 | POU1F1 | c.637A= (p.Lys213=) c.559A= (p.Lys187=) c.440-2012A= (n.440-2012A=) c.334A= (p.Lys112=) | |
3 | g.87262117C>A | CA434575694 | POU1F1 | c.636G>T (p.Leu212=) c.558G>T (p.Leu186=) c.440-2013G>T (n.440-2013G>T) c.333G>T (p.Leu111=) | |
3 | g.87262117C= | CA1381532970 | POU1F1 | c.636G= (p.Leu212=) c.558G= (p.Leu186=) c.440-2013G= (n.440-2013G=) c.333G= (p.Leu111=) | |
3 | g.87262117C>G | CA434575693 | POU1F1 | c.636G>C (p.Leu212=) c.558G>C (p.Leu186=) c.440-2013G>C (n.440-2013G>C) c.333G>C (p.Leu111=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.87262117C>T | CA434575692 | POU1F1 | c.636G>A (p.Leu212=) c.558G>A (p.Leu186=) c.440-2013G>A (n.440-2013G>A) c.333G>A (p.Leu111=) | |
3 | g.87262118A>C | CA353692794 | POU1F1 | c.635T>G (p.Leu212Arg) c.557T>G (p.Leu186Arg) c.440-2014T>G (n.440-2014T>G) c.332T>G (p.Leu111Arg) | |
3 | g.87262118A>G | CA353692796 | POU1F1 | c.635T>C (p.Leu212Pro) c.557T>C (p.Leu186Pro) c.440-2014T>C (n.440-2014T>C) c.332T>C (p.Leu111Pro) | gnomAD v4 |
3 | g.87262118A>T | CA353692795 | POU1F1 | c.635T>A (p.Leu212Gln) c.557T>A (p.Leu186Gln) c.440-2014T>A (n.440-2014T>A) c.332T>A (p.Leu111Gln) | |
3 | g.87262119G>A | CA434575695 | POU1F1 | c.634C>T (p.Leu212=) c.556C>T (p.Leu186=) c.440-2015C>T (n.440-2015C>T) c.331C>T (p.Leu111=) | gnomAD v4 |
3 | g.87262119G>C | CA353692797 | POU1F1 | c.634C>G (p.Leu212Val) c.556C>G (p.Leu186Val) c.440-2015C>G (n.440-2015C>G) c.331C>G (p.Leu111Val) | |
3 | g.87262119G>T | CA353692798 | POU1F1 | c.634C>A (p.Leu212Met) c.556C>A (p.Leu186Met) c.440-2015C>A (n.440-2015C>A) c.331C>A (p.Leu111Met) | gnomAD v4 |
3 | g.87262120T>A | CA353692799 | POU1F1 | c.633A>T (p.Lys211Asn) c.555A>T (p.Lys185Asn) c.440-2016A>T (n.440-2016A>T) c.330A>T (p.Lys110Asn) | |
3 | g.87262120T>C | CA434575696 | POU1F1 | c.633A>G (p.Lys211=) c.555A>G (p.Lys185=) c.440-2016A>G (n.440-2016A>G) c.330A>G (p.Lys110=) | |
3 | g.87262120T>G | CA353692800 | POU1F1 | c.633A>C (p.Lys211Asn) c.555A>C (p.Lys185Asn) c.440-2016A>C (n.440-2016A>C) c.330A>C (p.Lys110Asn) | |
3 | g.87262121T>A | CA353692801 | POU1F1 | c.632A>T (p.Lys211Ile) c.554A>T (p.Lys185Ile) c.440-2017A>T (n.440-2017A>T) c.329A>T (p.Lys110Ile) | |
3 | g.87262121T>C | CA353692802 | POU1F1 | c.632A>G (p.Lys211Arg) c.554A>G (p.Lys185Arg) c.440-2017A>G (n.440-2017A>G) c.329A>G (p.Lys110Arg) | |
3 | g.87262121T>G | CA353692803 | POU1F1 | c.632A>C (p.Lys211Thr) c.554A>C (p.Lys185Thr) c.440-2017A>C (n.440-2017A>C) c.329A>C (p.Lys110Thr) | |
3 | g.87262122T>A | CA353692804 | POU1F1 | c.631A>T (p.Lys211Ter) c.553A>T (p.Lys185Ter) c.440-2018A>T (n.440-2018A>T) c.328A>T (p.Lys110Ter) | |
3 | g.87262122T>C | CA353692805 | POU1F1 | c.631A>G (p.Lys211Glu) c.553A>G (p.Lys185Glu) c.440-2018A>G (n.440-2018A>G) c.328A>G (p.Lys110Glu) | gnomAD v4 |
3 | g.87262122T>G | CA353692806 | POU1F1 | c.631A>C (p.Lys211Gln) c.553A>C (p.Lys185Gln) c.440-2018A>C (n.440-2018A>C) c.328A>C (p.Lys110Gln) | gnomAD v4 |
3 | g.87262123G>A | CA434575698 | POU1F1 | c.630C>T (p.Cys210=) c.552C>T (p.Cys184=) c.440-2019C>T (n.440-2019C>T) c.327C>T (p.Cys109=) | dbSNP |
3 | g.87262123G>C | CA353692807 | POU1F1 | c.630C>G (p.Cys210Trp) c.552C>G (p.Cys184Trp) c.440-2019C>G (n.440-2019C>G) c.327C>G (p.Cys109Trp) | |
3 | g.87262123G= | CA1381532973 | POU1F1 | c.630C= (p.Cys210=) c.552C= (p.Cys184=) c.440-2019C= (n.440-2019C=) c.327C= (p.Cys109=) | |
3 | g.87262123G>T | CA353692808 | POU1F1 | c.630C>A (p.Cys210Ter) c.552C>A (p.Cys184Ter) c.440-2019C>A (n.440-2019C>A) c.327C>A (p.Cys109Ter) | |
3 | g.87262124C>A | CA2501161 | POU1F1 | c.629G>T (p.Cys210Phe) c.551G>T (p.Cys184Phe) c.440-2020G>T (n.440-2020G>T) c.326G>T (p.Cys109Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87262124C= | CA1381532977 | POU1F1 | c.629G= (p.Cys210=) c.551G= (p.Cys184=) c.440-2020G= (n.440-2020G=) c.326G= (p.Cys109=) | |
3 | g.87262124C>G | CA353692810 | POU1F1 | c.629G>C (p.Cys210Ser) c.551G>C (p.Cys184Ser) c.440-2020G>C (n.440-2020G>C) c.326G>C (p.Cys109Ser) | |
3 | g.87262124C>T | CA353692809 | POU1F1 | c.629G>A (p.Cys210Tyr) c.551G>A (p.Cys184Tyr) c.440-2020G>A (n.440-2020G>A) c.326G>A (p.Cys109Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.87262125del | CA2586972589 | POU1F1 | c.628del (p.Cys210AlafsTer3) c.550del (p.Cys184AlafsTer3) c.440-2021del (n.440-2021del) c.325del (p.Cys109AlafsTer3) |