All transcript variants in gene SPATA31A7

Information The variants shown are described using the NM_015667.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.190-36C>T r.(=) p.(=) g.65508229G>A Copied from the Exome Variant Server SPATA31A7_000014 5/9506 4/6760 1/2746
?/? c.190-22C>T r.(=) p.(=) g.65508215G>A Copied from the Exome Variant Server SPATA31A7_000013 1/9400 0/6688 1/2712
?/? c.190-21G>A r.(=) p.(=) g.65508214C>T Copied from the Exome Variant Server SPATA31A7_000012 3/9380 3/6678 0/2702
?/? c.190-20T>C r.(=) p.(=) g.65508213A>G Copied from the Exome Variant Server SPATA31A7_000011 1/9378 1/6676 0/2702
?/? c.190-18C>G r.(=) p.(=) g.65508211G>C Copied from the Exome Variant Server SPATA31A7_000010 2/9356 2/6660 0/2696
?/? c.202C>T r.(?) p.(Arg68Trp) g.65508181G>A Copied from the Exome Variant Server SPATA31A7_000009 3/6334 3/4748 0/1586
?/? c.203G>A r.(?) p.(Arg68Gln) g.65508180C>T Copied from the Exome Variant Server SPATA31A7_000008 1/6320 1/4748 0/1572
?/? c.209G>A r.(?) p.(Arg70Gln) g.65508174C>T Copied from the Exome Variant Server SPATA31A7_000007 1/6302 1/4744 0/1558
?/? c.221G>A r.(?) p.(Gly74Asp) g.65508162C>T Copied from the Exome Variant Server SPATA31A7_000006 4/6078 4/4622 0/1456
?/? c.264G>A r.(=) p.(=) g.65507551C>T Copied from the Exome Variant Server SPATA31A7_000005 2/6808 2/4842 0/1966
?/? c.285G>A r.(=) p.(=) g.65507530C>T Copied from the Exome Variant Server SPATA31A7_000004 3/6802 2/4842 1/1960
?/? c.289C>G r.(?) p.(Leu97Val) g.65507526G>C Copied from the Exome Variant Server SPATA31A7_000003 18/6802 17/4842 1/1960
?/? c.303G>T r.(=) p.(=) g.65507512C>A Copied from the Exome Variant Server SPATA31A7_000002 5/6756 4/4818 1/1938
?/? c.1133A>G r.(?) p.(Asn378Ser) g.65506427T>C Copied from the Exome Variant Server SPATA31A7_000001 106/5220 0/3770 106/1450
Legend