Unique variants in gene CD58

Information The variants shown are described using the NM_001779.2 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-29C>A r.(=) p.(=) g.117113623G>T Copied from the Exome Variant Server CD58_000048 2/11066 2/7438 0/3628
1 c.-10C>T r.(=) p.(=) g.117113604G>A Copied from the Exome Variant Server CD58_000047 6/11474 0/7684 6/3790
1 c.43A>G r.(?) p.(Ser15Gly) g.117113552T>C Copied from the Exome Variant Server CD58_000046 323/12622 9/8360 314/4262
1 c.64T>G r.(?) p.(Cys22Gly) g.117113531A>C Copied from the Exome Variant Server CD58_000045 105/12640 2/8374 103/4266
1 c.70+18C>T r.(=) p.(=) g.117113507G>A Copied from the Exome Variant Server CD58_000044 259/11856 6/7894 253/3962
1 c.87T>C r.(=) p.(=) g.117087210A>G Copied from the Exome Variant Server CD58_000043 3/13004 0/8598 3/4406
1 c.89C>A r.(?) p.(Ser30Tyr) g.117087208G>T Copied from the Exome Variant Server CD58_000042 27/13004 0/8598 27/4406
1 c.93A>C r.(?) p.(Gln31His) g.117087204T>G Copied from the Exome Variant Server CD58_000041 1/13004 1/8598 0/4406
1 c.121G>A r.(?) p.(Val41Ile) g.117087176C>T Copied from the Exome Variant Server CD58_000040 8/13006 8/8600 0/4406
1 c.140G>A r.(?) p.(Ser47Asn) g.117087157C>T Copied from the Exome Variant Server CD58_000039 1/13006 1/8600 0/4406
1 c.145G>C r.(?) p.(Val49Leu) g.117087152C>G Copied from the Exome Variant Server CD58_000038 1/13006 0/8600 1/4406
1 c.254C>G r.(?) p.(Thr85Ser) g.117087043G>C Copied from the Exome Variant Server CD58_000037 1/13006 0/8600 1/4406
1 c.262G>C r.(?) p.(Gly88Arg) g.117087035C>G Copied from the Exome Variant Server CD58_000036 1/13004 1/8600 0/4404
1 c.266G>A r.(?) p.(Ser89Asn) g.117087031C>T Copied from the Exome Variant Server CD58_000035 1/13004 0/8600 1/4404
1 c.274A>G r.(?) p.(Ile92Val) g.117087023T>C Copied from the Exome Variant Server CD58_000034 1/13004 1/8600 0/4404
1 c.313A>G r.(?) p.(Met105Val) g.117086984T>C Copied from the Exome Variant Server CD58_000033 1/13006 0/8600 1/4406
1 c.328A>G r.(?) p.(Ile110Val) g.117086969T>C Copied from the Exome Variant Server CD58_000032 1/13006 1/8600 0/4406
1 c.356A>T r.(?) p.(Tyr119Phe) g.117086941T>A Copied from the Exome Variant Server CD58_000031 11/13004 0/8600 11/4404
1 c.364+34G>T r.(=) p.(=) g.117086899C>A Copied from the Exome Variant Server CD58_000030 1/12996 1/8598 0/4398
1 c.365-51_365-50del r.(=) p.(=) g.117078900_117078901del Copied from the Exome Variant Server CD58_000029 3/12274 1/8178 2/4096
1 c.365-37C>G r.(=) p.(=) g.117078887G>C Copied from the Exome Variant Server CD58_000028 1/12866 1/8556 0/4310
1 c.365-5del r.spl? p.? g.117078855del Copied from the Exome Variant Server CD58_000027 14/12494 8/8248 6/4246
1 c.375A>G r.(=) p.(=) g.117078840T>C Copied from the Exome Variant Server CD58_000026 1/13006 1/8600 0/4406
1 c.444C>T r.(=) p.(=) g.117078771G>A Copied from the Exome Variant Server CD58_000025 51/13006 1/8600 50/4406
1 c.452A>G r.(?) p.(His151Arg) g.117078763T>C Copied from the Exome Variant Server CD58_000024 1/13006 1/8600 0/4406
1 c.486T>C r.(=) p.(=) g.117078729A>G Copied from the Exome Variant Server CD58_000023 957/13006 139/8600 818/4406
1 c.503G>A r.(?) p.(Arg168His) g.117078712C>T Copied from the Exome Variant Server CD58_000022 1/13006 1/8600 0/4406
1 c.628+21G>C r.(=) p.(=) g.117078566C>G Copied from the Exome Variant Server CD58_000021 1/13006 1/8600 0/4406
1 c.628+25T>C r.(=) p.(=) g.117078562A>G Copied from the Exome Variant Server CD58_000020 2/13006 2/8600 0/4406
1 c.629-41C>T r.(=) p.(=) g.117064646G>A Copied from the Exome Variant Server CD58_000019 2/12902 2/8536 0/4366
1 c.629-37T>C r.(=) p.(=) g.117064642A>G Copied from the Exome Variant Server CD58_000018 1/12922 1/8548 0/4374
1 c.642C>G r.(?) p.(His214Gln) g.117064592G>C Copied from the Exome Variant Server CD58_000017 1/12990 0/8592 1/4398
1 c.680C>T r.(?) p.(Thr227Ile) g.117064554G>A Copied from the Exome Variant Server CD58_000016 3/12984 0/8592 3/4392
1 c.706+15T>C r.(=) p.(=) g.117064513A>G Copied from the Exome Variant Server CD58_000015 2/12982 1/8586 1/4396
1 c.706+17A>G r.(=) p.(=) g.117064511T>C Copied from the Exome Variant Server CD58_000014 1/12978 0/8584 1/4394
1 c.709A>G r.(?) p.(Ile237Val) g.117061887T>C Copied from the Exome Variant Server CD58_000013 34/13006 32/8600 2/4406
1 c.723C>T r.(=) p.(=) g.117061873G>A Copied from the Exome Variant Server CD58_000012 1/13006 1/8600 0/4406
1 c.743+75G>A r.(=) p.(=) g.117061778C>T Copied from the Exome Variant Server CD58_000011 57/4566 51/3182 6/1384
1 c.744-94T>C r.(=) p.(=) g.117057538A>G Copied from the Exome Variant Server CD58_000010 2/4564 2/3180 0/1384
1 c.744-19A>G r.(=) p.(=) g.117057463T>C Copied from the Exome Variant Server CD58_000009 1/13002 1/8598 0/4404
1 c.744-19_744-17del r.(=) p.(=) g.117057461_117057463del Copied from the Exome Variant Server CD58_000008 4/12516 3/8252 1/4264
1 c.744-16T>C r.(=) p.(=) g.117057460A>G Copied from the Exome Variant Server CD58_000007 1/13002 1/8598 0/4404
1 c.744-5del r.spl? p.? g.117057449del Copied from the Exome Variant Server CD58_000005 11/12514 3/8252 8/4262
1 c.744-5dup r.spl? p.? g.117057449dup Copied from the Exome Variant Server CD58_000004 10/12514 3/8252 7/4262
1 c.744-5T>C r.spl? p.? g.117057449A>G Copied from the Exome Variant Server CD58_000006 6/13000 0/8598 6/4402
1 c.745T>G r.(?) p.(Ser249Ala) g.117057443A>C Copied from the Exome Variant Server CD58_000003 1/13000 0/8596 1/4404
1 c.*10_*11del r.(=) p.(=) g.117057424_117057425del Copied from the Exome Variant Server CD58_000002 1/12512 0/8250 1/4262
1 c.*15T>A r.(=) p.(=) g.117057420A>T Copied from the Exome Variant Server CD58_000001 1/12996 1/8594 0/4402
Legend