Unique variants in gene GTF2H5

Information The variants shown are described using the NM_207118.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-34-24A>G r.(=) p.(=) g.158591478A>G Copied from the Exome Variant Server GTF2H5_000001 126/4564 113/3180 13/1384
1 c.-34-17C>G r.(=) p.(=) g.158591485C>G Copied from the Exome Variant Server GTF2H5_000002 9/13004 1/8598 8/4406
1 c.-34-13C>A r.(=) p.(=) g.158591489C>A Copied from the Exome Variant Server GTF2H5_000003 2/13004 2/8598 0/4406
1 c.-34-12T>G r.(=) p.(=) g.158591490T>G Copied from the Exome Variant Server GTF2H5_000004 1/13004 1/8598 0/4406
1 c.-34-2A>G r.(=) p.(=) g.158591500A>G Copied from the Exome Variant Server GTF2H5_000005 1/13006 1/8600 0/4406
1 c.-24G>A r.(=) p.(=) g.158591512G>A Copied from the Exome Variant Server GTF2H5_000006 4/13006 4/8600 0/4406
1 c.33A>G r.(=) p.(=) g.158591568A>G Copied from the Exome Variant Server GTF2H5_000007 1/13006 1/8600 0/4406
1 c.35+45A>T r.(=) p.(=) g.158591615A>T Copied from the Exome Variant Server GTF2H5_000008 1/13006 1/8600 0/4406
1 c.35+49T>G r.(=) p.(=) g.158591619T>G Copied from the Exome Variant Server GTF2H5_000009 912/13006 11/8600 901/4406
1 c.36-1376T>G r.(=) p.(=) g.158611633T>G Copied from the Exome Variant Server GTF2H5_000010 10/5718 0/3972 10/1746
1 c.36-1354A>T r.(=) p.(=) g.158611655A>T Copied from the Exome Variant Server GTF2H5_000011 1128/5718 499/3974 629/1744
1 c.36-1104_36-1103del r.(=) p.(=) g.158611905_158611906del Copied from the Exome Variant Server GTF2H5_000012 1245/6162 521/4188 724/1974
1 c.36-1060G>T r.(=) p.(=) g.158611949G>T Copied from the Exome Variant Server GTF2H5_000013 1/5734 1/3982 0/1752
1 c.36-1040G>A r.(=) p.(=) g.158611969G>A Copied from the Exome Variant Server GTF2H5_000014 1369/5734 515/3982 854/1752
1 c.36-51T>C r.(=) p.(=) g.158612958T>C Copied from the Exome Variant Server GTF2H5_000015 1/13006 0/8600 1/4406
1 c.36-43del r.(=) p.(=) g.158612966del Copied from the Exome Variant Server GTF2H5_000016 3/12518 3/8254 0/4264
1 c.36-42T>C r.(=) p.(=) g.158612967T>C Copied from the Exome Variant Server GTF2H5_000017 2/13006 0/8600 2/4406
1 c.36-33A>G r.(=) p.(=) g.158612976A>G Copied from the Exome Variant Server GTF2H5_000018 1/13006 0/8600 1/4406
1 c.36-28T>C r.(=) p.(=) g.158612981T>C Copied from the Exome Variant Server GTF2H5_000019 1/13006 1/8600 0/4406
1 c.60G>T r.(=) p.(=) g.158613033G>T Copied from the Exome Variant Server GTF2H5_000020 1/13006 0/8600 1/4406
1 c.80A>G r.(?) p.(Asn27Ser) g.158613053A>G Copied from the Exome Variant Server GTF2H5_000021 1/13006 1/8600 0/4406
1 c.104T>G r.(?) p.(Ile35Ser) g.158613077T>G Copied from the Exome Variant Server GTF2H5_000022 1/13006 1/8600 0/4406
1 c.107A>G r.(?) p.(Gln36Arg) g.158613080A>G Copied from the Exome Variant Server GTF2H5_000023 1/13006 1/8600 0/4406
1 c.136A>G r.(?) p.(Ile46Val) g.158613109A>G Copied from the Exome Variant Server GTF2H5_000024 2/13006 0/8600 2/4406
1 c.139G>A r.(?) p.(Ala47Thr) g.158613112G>A Copied from the Exome Variant Server GTF2H5_000025 1/13006 1/8600 0/4406
1 c.167G>A r.(?) p.(Arg56Gln) g.158613140G>A Copied from the Exome Variant Server GTF2H5_000026 2/13006 0/8600 2/4406
1 c.171G>A r.(=) p.(=) g.158613144G>A Copied from the Exome Variant Server GTF2H5_000027 1/13006 1/8600 0/4406
1 c.194C>T r.(?) p.(Ala65Val) g.158613167C>T Copied from the Exome Variant Server GTF2H5_000028 1/13006 1/8600 0/4406
1 c.201C>T r.(=) p.(=) g.158613174C>T Copied from the Exome Variant Server GTF2H5_000029 2/13006 0/8600 2/4406
1 c.206C>T r.(?) p.(Thr69Ile) g.158613179C>T Copied from the Exome Variant Server GTF2H5_000030 1/13006 1/8600 0/4406
1 c.*14G>A r.(=) p.(=) g.158613203G>A Copied from the Exome Variant Server GTF2H5_000031 1/13004 1/8598 0/4406
Legend