Unique variants in gene SPANXN5

Information The variants shown are described using the NM_001009616.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.38G>C r.(?) p.(Arg13Thr) g.52826351C>G Copied from the Exome Variant Server SPANXN5_000013 1/10563 0/6728 1/3835
1 c.47C>G r.(?) p.(Pro16Arg) g.52826342G>C Copied from the Exome Variant Server SPANXN5_000012 1/10563 1/6728 0/3835
1 c.75+58G>A r.(=) p.(=) g.52826256C>T Copied from the Exome Variant Server SPANXN5_000011 1/3600 1/2391 0/1209
1 c.76-45C>G r.(=) p.(=) g.52825716G>C Copied from the Exome Variant Server SPANXN5_000010 1/10558 1/6723 0/3835
1 c.76-13G>A r.(=) p.(=) g.52825684C>T Copied from the Exome Variant Server SPANXN5_000009 175/10561 0/6726 175/3835
1 c.113C>A r.(?) p.(Pro38Gln) g.52825634G>T Copied from the Exome Variant Server SPANXN5_000008 2/10563 0/6728 2/3835
1 c.115A>T r.(?) p.(Ser39Cys) g.52825632T>A Copied from the Exome Variant Server SPANXN5_000007 1/10563 0/6728 1/3835
1 c.127A>G r.(?) p.(Met43Val) g.52825620T>C Copied from the Exome Variant Server SPANXN5_000006 1/10563 0/6728 1/3835
1 c.159G>A r.(=) p.(=) g.52825588C>T Copied from the Exome Variant Server SPANXN5_000005 1/10563 0/6728 1/3835
1 c.196C>A r.(?) p.(Gln66Lys) g.52825551G>T Copied from the Exome Variant Server SPANXN5_000004 1/10563 1/6728 0/3835
1 c.201G>C r.(=) p.(=) g.52825546C>G Copied from the Exome Variant Server SPANXN5_000003 10281/10563 6529/6728 3752/3835
1 c.209A>T r.(?) p.(Asp70Val) g.52825538T>A Copied from the Exome Variant Server SPANXN5_000002 1/10563 0/6728 1/3835
1 c.*36C>T r.(=) p.(=) g.52825492G>A Copied from the Exome Variant Server SPANXN5_000001 2/10563 1/6728 1/3835
Legend