All transcript variants in gene RGS8

Information The variants shown are described using the NM_033345.2 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-77G>A r.(=) p.(=) g.182642036C>T Copied from the Exome Variant Server RGS8_000056 3/4566 2/3182 1/1384
?/? c.-67C>T r.(=) p.(=) g.182642026G>A Copied from the Exome Variant Server RGS8_000055 8/4566 0/3182 8/1384
?/? c.-65A>G r.(=) p.(=) g.182642024T>C Copied from the Exome Variant Server RGS8_000054 1/4566 0/3182 1/1384
?/? c.-50G>A r.(=) p.(=) g.182642009C>T Copied from the Exome Variant Server RGS8_000053 1/13006 0/8600 1/4406
?/? c.-44A>G r.(=) p.(=) g.182642003T>C Copied from the Exome Variant Server RGS8_000052 10/13006 9/8600 1/4406
?/? c.-36C>T r.(=) p.(=) g.182641995G>A Copied from the Exome Variant Server RGS8_000051 2/13006 0/8600 2/4406
?/? c.-10G>A r.(=) p.(=) g.182641969C>T Copied from the Exome Variant Server RGS8_000050 1/13006 0/8600 1/4406
?/? c.6+9G>A r.(=) p.(=) g.182641945C>T Copied from the Exome Variant Server RGS8_000049 56/13006 1/8600 55/4406
?/? c.6+64G>A r.(=) p.(=) g.182641890C>T Copied from the Exome Variant Server RGS8_000048 2/4566 0/3182 2/1384
?/? c.6+78del r.(=) p.(=) g.182641876del Copied from the Exome Variant Server RGS8_000047 9/12520 0/8254 9/4266
?/? c.7-44G>A r.(=) p.(=) g.182640909C>T Copied from the Exome Variant Server RGS8_000046 2/13006 0/8600 2/4406
?/? c.7-43C>T r.(=) p.(=) g.182640908G>A Copied from the Exome Variant Server RGS8_000045 8/13006 0/8600 8/4406
?/? c.7-16T>C r.(=) p.(=) g.182640881A>G Copied from the Exome Variant Server RGS8_000043 1/13006 1/8600 0/4406
?/? c.7-11T>C r.(=) p.(=) g.182640876A>G Copied from the Exome Variant Server RGS8_000041 6/13006 0/8600 6/4406
?/? c.8A>G r.(?) p.(Asn3Ser) g.182640864T>C Copied from the Exome Variant Server RGS8_000039 2152/13006 370/8600 1782/4406
?/? c.21A>C r.(=) p.(=) g.182640851T>G Copied from the Exome Variant Server RGS8_000037 1532/13006 368/8600 1164/4406
?/? c.24C>T r.(=) p.(=) g.182640848G>A Copied from the Exome Variant Server RGS8_000035 248/13006 5/8600 243/4406
?/? c.29C>T r.(?) p.(Ser10Phe) g.182640843G>A Copied from the Exome Variant Server RGS8_000033 1/13006 1/8600 0/4406
?/? c.80+9T>C r.(=) p.(=) g.182640783A>G Copied from the Exome Variant Server RGS8_000031 1/13006 1/8600 0/4406
?/? c.80+35G>A r.(=) p.(=) g.182640757C>T Copied from the Exome Variant Server RGS8_000029 2/13006 1/8600 1/4406
?/? c.80+37G>T r.(=) p.(=) g.182640755C>A Copied from the Exome Variant Server RGS8_000027 1/13006 1/8600 0/4406
?/? c.80+52C>T r.(=) p.(=) g.182640740G>A Copied from the Exome Variant Server RGS8_000044 1/10300 1/7164 0/3136
?/? c.80+1940G>A r.(=) p.(=) g.182638852C>T Copied from the Exome Variant Server RGS8_000042 1/4566 1/3182 0/1384
?/? c.80+2008A>G r.(=) p.(=) g.182638784T>C Copied from the Exome Variant Server RGS8_000040 1/12244 0/8306 1/3938
?/? c.80+2038T>A r.(=) p.(=) g.182638754A>T Copied from the Exome Variant Server RGS8_000038 1/12304 0/8318 1/3986
?/? c.80+2088C>T r.(=) p.(=) g.182638704G>A Copied from the Exome Variant Server RGS8_000036 1/4566 1/3182 0/1384
?/? c.81-27G>A r.(=) p.(=) g.182636135C>T Copied from the Exome Variant Server RGS8_000034 1/13006 1/8600 0/4406
?/? c.81-10C>T r.(=) p.(=) g.182636118G>A Copied from the Exome Variant Server RGS8_000032 2/13006 0/8600 2/4406
?/? c.132G>A r.(=) p.(=) g.182636057C>T Copied from the Exome Variant Server RGS8_000030 3/13006 3/8600 0/4406
?/? c.172C>T r.(?) p.(Arg58Cys) g.182636017G>A Copied from the Exome Variant Server RGS8_000028 3/13006 3/8600 0/4406
?/? c.174C>T r.(=) p.(=) g.182636015G>A Copied from the Exome Variant Server RGS8_000026 11/13006 0/8600 11/4406
?/? c.182+18G>A r.(=) p.(=) g.182635989C>T Copied from the Exome Variant Server RGS8_000025 2/13006 2/8600 0/4406
?/? c.182+21C>A r.(=) p.(=) g.182635986G>T Copied from the Exome Variant Server RGS8_000024 1/13006 0/8600 1/4406
?/? c.183-20A>T r.(=) p.(=) g.182635188T>A Copied from the Exome Variant Server RGS8_000023 1/13006 1/8600 0/4406
?/? c.183-17T>G r.(=) p.(=) g.182635185A>C Copied from the Exome Variant Server RGS8_000022 1/13006 1/8600 0/4406
?/? c.183-5_183-4insT r.spl? p.? g.182635172_182635173insA Copied from the Exome Variant Server RGS8_000021 44/12520 0/8254 44/4266
?/? c.247+21A>G r.(=) p.(=) g.182635083T>C Copied from the Exome Variant Server RGS8_000020 7/13006 7/8600 0/4406
?/? c.247+41C>A r.(=) p.(=) g.182635063G>T Copied from the Exome Variant Server RGS8_000019 1/13006 0/8600 1/4406
?/? c.248-21T>G r.(=) p.(=) g.182617459A>C Copied from the Exome Variant Server RGS8_000018 1/13006 1/8600 0/4406
?/? c.248-12C>T r.(=) p.(=) g.182617450G>A Copied from the Exome Variant Server RGS8_000017 1/13006 1/8600 0/4406
?/? c.249T>C r.(=) p.(=) g.182617437A>G Copied from the Exome Variant Server RGS8_000016 1/13006 1/8600 0/4406
?/? c.316G>A r.(?) p.(Ala106Thr) g.182617370C>T Copied from the Exome Variant Server RGS8_000015 3/13006 3/8600 0/4406
?/? c.338C>T r.(?) p.(Thr113Ile) g.182617348G>A Copied from the Exome Variant Server RGS8_000014 55/13006 4/8600 51/4406
?/? c.367G>T r.(?) p.(Ala123Ser) g.182617319C>A Copied from the Exome Variant Server RGS8_000013 1/13006 1/8600 0/4406
?/? c.380T>C r.(?) p.(Phe127Ser) g.182617306A>G Copied from the Exome Variant Server RGS8_000012 1/13006 1/8600 0/4406
?/? c.414+30A>C r.(=) p.(=) g.182617242T>G Copied from the Exome Variant Server RGS8_000011 1/13006 1/8600 0/4406
?/? c.414+34A>G r.(=) p.(=) g.182617238T>C Copied from the Exome Variant Server RGS8_000010 6/13006 0/8600 6/4406
?/? c.415-37G>A r.(=) p.(=) g.182616089C>T Copied from the Exome Variant Server RGS8_000009 5/13006 0/8600 5/4406
?/? c.415-33G>A r.(=) p.(=) g.182616085C>T Copied from the Exome Variant Server RGS8_000008 2/13006 2/8600 0/4406
?/? c.433A>T r.(?) p.(Thr145Ser) g.182616034T>A Copied from the Exome Variant Server RGS8_000007 1/13006 0/8600 1/4406
?/? c.447G>A r.(=) p.(=) g.182616020C>T Copied from the Exome Variant Server RGS8_000006 1/13006 0/8600 1/4406
?/? c.531C>T r.(=) p.(=) g.182615936G>A Copied from the Exome Variant Server RGS8_000005 5/13006 5/8600 0/4406
?/? c.*2C>T r.(=) p.(=) g.182615868G>A Copied from the Exome Variant Server RGS8_000004 1/13006 1/8600 0/4406
?/? c.*4T>C r.(=) p.(=) g.182615866A>G Copied from the Exome Variant Server RGS8_000003 1/13006 1/8600 0/4406
?/? c.*17C>T r.(=) p.(=) g.182615853G>A Copied from the Exome Variant Server RGS8_000002 7/13006 0/8600 7/4406
?/? c.*35T>C r.(=) p.(=) g.182615835A>G Copied from the Exome Variant Server RGS8_000001 1/13006 0/8600 1/4406
Legend