Unique variants in gene POU3F4

Information The variants shown are described using the NM_000307.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-32A>C r.(=) p.(=) g.82763301A>C Copied from the Exome Variant Server POU3F4_000001 1/10561 1/6726 0/3835
1 c.139C>T r.(?) p.(Pro47Ser) g.82763471C>T Copied from the Exome Variant Server POU3F4_000002 20/10563 1/6728 19/3835
1 c.162G>A r.(=) p.(=) g.82763494G>A Copied from the Exome Variant Server POU3F4_000003 1/10563 1/6728 0/3835
1 c.168C>A r.(?) p.(His56Gln) g.82763500C>A Copied from the Exome Variant Server POU3F4_000004 1/10563 0/6728 1/3835
1 c.192G>A r.(=) p.(=) g.82763524G>A Copied from the Exome Variant Server POU3F4_000005 1/10560 1/6725 0/3835
1 c.249C>A r.(=) p.(=) g.82763581C>A Copied from the Exome Variant Server POU3F4_000006 1/10535 0/6712 1/3823
1 c.418A>C r.(?) p.(Thr140Pro) g.82763750A>C Copied from the Exome Variant Server POU3F4_000007 1/10559 1/6725 0/3834
1 c.432G>T r.(?) p.(Met144Ile) g.82763764G>T Copied from the Exome Variant Server POU3F4_000008 1/10557 1/6725 0/3832
1 c.468C>T r.(=) p.(=) g.82763800C>T Copied from the Exome Variant Server POU3F4_000009 1/10559 0/6725 1/3834
1 c.707del r.(?) p.(Gly237Alafs*4) g.82764039del Copied from the Exome Variant Server POU3F4_000010 10202/10203 6481/6482 3721/3721
1 c.810C>T r.(=) p.(=) g.82764142C>T Copied from the Exome Variant Server POU3F4_000011 2/10563 0/6728 2/3835
1 c.861G>A r.(=) p.(=) g.82764193G>A Copied from the Exome Variant Server POU3F4_000012 1/10563 0/6728 1/3835
1 c.885G>C r.(=) p.(=) g.82764217G>C Copied from the Exome Variant Server POU3F4_000013 1/10563 1/6728 0/3835
1 c.1014G>T r.(=) p.(=) g.82764346G>T Copied from the Exome Variant Server POU3F4_000014 1/10560 1/6727 0/3833
1 c.1054G>T r.(?) p.(Val352Leu) g.82764386G>T Copied from the Exome Variant Server POU3F4_000015 1/10552 0/6721 1/3831
1 c.1061C>T r.(?) p.(Thr354Ile) g.82764393C>T Copied from the Exome Variant Server POU3F4_000016 1/10553 1/6722 0/3831
1 c.*23C>T r.(=) p.(=) g.82764441C>T Copied from the Exome Variant Server POU3F4_000017 1/10351 0/6579 1/3772
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