Unique variants in gene PDZD11

Information The variants shown are described using the NM_016484.4 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.11G>A r.(?) p.(Arg4Gln) g.69509181C>T Copied from the Exome Variant Server PDZD11_000021 1/10563 0/6728 1/3835
1 c.87+12C>T r.(=) p.(=) g.69509093G>A Copied from the Exome Variant Server PDZD11_000020 1/10562 0/6727 1/3835
1 c.87+38_87+39insT r.(=) p.(=) g.69509066_69509067insA Copied from the Exome Variant Server PDZD11_000019 8/10201 6/6482 2/3719
1 c.171+25G>A r.(=) p.(=) g.69508255C>T Copied from the Exome Variant Server PDZD11_000018 1/10563 0/6728 1/3835
1 c.171+29A>G r.(=) p.(=) g.69508251T>C Copied from the Exome Variant Server PDZD11_000017 1/10563 0/6728 1/3835
1 c.171+34C>T r.(=) p.(=) g.69508246G>A Copied from the Exome Variant Server PDZD11_000016 1/10563 1/6728 0/3835
1 c.171+35A>G r.(=) p.(=) g.69508245T>C Copied from the Exome Variant Server PDZD11_000015 1/10563 1/6728 0/3835
1 c.172-42G>A r.(=) p.(=) g.69508065C>T Copied from the Exome Variant Server PDZD11_000014 28/10563 0/6728 28/3835
1 c.228+30G>A r.(=) p.(=) g.69507937C>T Copied from the Exome Variant Server PDZD11_000013 70/10563 62/6728 8/3835
1 c.228+44T>A r.(=) p.(=) g.69507923A>T Copied from the Exome Variant Server PDZD11_000012 12/10561 1/6726 11/3835
1 c.229-42A>T r.(=) p.(=) g.69507722T>A Copied from the Exome Variant Server PDZD11_000011 4/10563 0/6728 4/3835
1 c.229-3C>T r.spl? p.? g.69507683G>A Copied from the Exome Variant Server PDZD11_000010 1/10563 1/6728 0/3835
1 c.252T>C r.(=) p.(=) g.69507657A>G Copied from the Exome Variant Server PDZD11_000009 1/10563 0/6728 1/3835
1 c.257C>T r.(?) p.(Ala86Val) g.69507652G>A Copied from the Exome Variant Server PDZD11_000008 1/10563 1/6728 0/3835
1 c.327+3G>C r.spl? p.? g.69507579C>G Copied from the Exome Variant Server PDZD11_000007 1/10563 1/6728 0/3835
1 c.327+38C>T r.(=) p.(=) g.69507544G>A Copied from the Exome Variant Server PDZD11_000006 2/10563 0/6728 2/3835
1 c.328-33C>T r.(=) p.(=) g.69507219G>A Copied from the Exome Variant Server PDZD11_000005 2/10563 2/6728 0/3835
1 c.328-29A>G r.(=) p.(=) g.69507215T>C Copied from the Exome Variant Server PDZD11_000004 2/10563 0/6728 2/3835
1 c.352C>T r.(?) p.(Arg118Cys) g.69507162G>A Copied from the Exome Variant Server PDZD11_000003 2/10563 2/6728 0/3835
1 c.388+7G>A r.(=) p.(=) g.69507119C>T Copied from the Exome Variant Server PDZD11_000002 16/10563 13/6728 3/3835
1 c.389-45G>A r.(=) p.(=) g.69507011C>T Copied from the Exome Variant Server PDZD11_000001 1/10559 1/6725 0/3834
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