All transcript variants in gene PQBP1

Information The variants shown are described using the NM_001032381.1 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-16del r.(=) p.(=) g.48755777del Copied from the Exome Variant Server PQBP1_000002 1/10205 0/6484 1/3721
?/? c.102C>T r.(=) p.(=) g.48758501C>T Copied from the Exome Variant Server PQBP1_000004 1/10563 0/6728 1/3835
?/? c.173C>T r.(?) p.(Pro58Leu) g.48758572C>T Copied from the Exome Variant Server PQBP1_000006 1/10562 1/6727 0/3835
?/? c.180-51G>A r.(=) p.(=) g.48759156G>A Copied from the Exome Variant Server PQBP1_000008 2/10561 2/6727 0/3834
?/? c.180-3C>T r.spl? p.? g.48759204C>T Copied from the Exome Variant Server PQBP1_000010 6059/10563 3991/6728 2068/3835
?/? c.249C>T r.(=) p.(=) g.48759276C>T Copied from the Exome Variant Server PQBP1_000012 1/10563 0/6728 1/3835
?/? c.252G>A r.(=) p.(=) g.48759279G>A Copied from the Exome Variant Server PQBP1_000014 1/10563 0/6728 1/3835
?/? c.292+10C>T r.(=) p.(=) g.48759329C>T Copied from the Exome Variant Server PQBP1_000016 1/10563 1/6728 0/3835
?/? c.292+21G>A r.(=) p.(=) g.48759340G>A Copied from the Exome Variant Server PQBP1_000018 1/10563 1/6728 0/3835
?/? c.292+30G>A r.(=) p.(=) g.48759349G>A Copied from the Exome Variant Server PQBP1_000020 2/10563 1/6728 1/3835
?/? c.292+32G>A r.(=) p.(=) g.48759351G>A Copied from the Exome Variant Server PQBP1_000022 1/10563 1/6728 0/3835
?/? c.292+49C>T r.(=) p.(=) g.48759368C>T Copied from the Exome Variant Server PQBP1_000024 2/10563 0/6728 2/3835
?/? c.317_337del r.(?) p.(Gly113_Arg119del) g.48759534_48759554del Copied from the Exome Variant Server PQBP1_000026 34/10205 26/6484 8/3721
?/? c.377_397del r.(?) p.(Gly134_Arg140del) g.48759594_48759614del Copied from the Exome Variant Server PQBP1_000028 34/10201 25/6482 9/3719
?/? c.379G>A r.(?) p.(Gly127Ser) g.48759596G>A Copied from the Exome Variant Server PQBP1_000001 1/10563 1/6728 0/3835
?/? c.393A>T r.(=) p.(=) g.48759610A>T Copied from the Exome Variant Server PQBP1_000003 2/10563 0/6728 2/3835
?/? c.397C>A r.(=) p.(=) g.48759614C>A Copied from the Exome Variant Server PQBP1_000005 4/10563 1/6728 3/3835
?/? c.451_452del r.(?) p.(Glu154Alafs*12) g.48759668_48759669del Copied from the Exome Variant Server PQBP1_000007 171/10198 111/6479 60/3719
?/? c.492G>T r.(=) p.(=) g.48759709G>T Copied from the Exome Variant Server PQBP1_000009 1/10560 1/6727 0/3833
?/? c.577+25G>A r.(=) p.(=) g.48759819G>A Copied from the Exome Variant Server PQBP1_000011 81/10546 0/6718 81/3828
?/? c.578-44C>A r.(=) p.(=) g.48759965C>A Copied from the Exome Variant Server PQBP1_000013 1087/10540 6/6715 1081/3825
?/? c.585C>T r.(=) p.(=) g.48760016C>T Copied from the Exome Variant Server PQBP1_000015 2/10556 2/6723 0/3833
?/? c.641+26G>C r.(=) p.(=) g.48760098G>C Copied from the Exome Variant Server PQBP1_000017 1/10557 0/6723 1/3834
?/? c.641+30G>A r.(=) p.(=) g.48760102G>A Copied from the Exome Variant Server PQBP1_000019 1/10556 0/6722 1/3834
?/? c.641+32G>T r.(=) p.(=) g.48760104G>T Copied from the Exome Variant Server PQBP1_000021 1/10554 0/6720 1/3834
?/? c.641+39_641+40insT r.(=) p.(=) g.48760111_48760112insT Copied from the Exome Variant Server PQBP1_000023 1/10192 1/6472 0/3720
?/? c.642-43C>T r.(=) p.(=) g.48760162C>T Copied from the Exome Variant Server PQBP1_000025 8/10544 0/6716 8/3828
?/? c.642-25C>T r.(=) p.(=) g.48760180C>T Copied from the Exome Variant Server PQBP1_000027 1/10545 0/6716 1/3829
?/? c.642-3C>A r.spl? p.? g.48760202C>A Copied from the Exome Variant Server PQBP1_000029 1/10540 1/6714 0/3826
?/? c.690C>T r.(=) p.(=) g.48760253C>T Copied from the Exome Variant Server PQBP1_000030 1/10557 0/6726 1/3831
?/? c.*6C>T r.(=) p.(=) g.48760367C>T Copied from the Exome Variant Server PQBP1_000031 7/10559 7/6724 0/3835
?/? c.*8G>A r.(=) p.(=) g.48760369G>A Copied from the Exome Variant Server PQBP1_000032 1/10558 1/6723 0/3835
Legend