Unique variants in gene PRKAR1A

Information The variants shown are described using the NM_002734.3 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-6-38A>G r.(=) p.(=) g.66511497A>G Copied from the Exome Variant Server PRKAR1A_000001 1/13006 0/8600 1/4406
1 c.-6-15_-6-14insT r.(=) p.(=) g.66511520_66511521insT Copied from the Exome Variant Server PRKAR1A_000002 5/12518 1/8254 4/4264
1 c.-6-7C>T r.(=) p.(=) g.66511528C>T Copied from the Exome Variant Server PRKAR1A_000003 1/13006 1/8600 0/4406
1 c.-6-4G>A r.(=) p.(=) g.66511531G>A Copied from the Exome Variant Server PRKAR1A_000004 4/13006 0/8600 4/4406
1 c.19G>A r.(?) p.(Ala7Thr) g.66511559G>A Copied from the Exome Variant Server PRKAR1A_000005 1/13006 1/8600 0/4406
1 c.60C>G r.(=) p.(=) g.66511600C>G Copied from the Exome Variant Server PRKAR1A_000006 1/13006 1/8600 0/4406
1 c.73C>T r.(?) p.(His25Tyr) g.66511613C>T Copied from the Exome Variant Server PRKAR1A_000007 1/13006 0/8600 1/4406
1 c.87G>A r.(=) p.(=) g.66511627G>A Copied from the Exome Variant Server PRKAR1A_000008 220/13006 198/8600 22/4406
1 c.103A>G r.(?) p.(Ile35Val) g.66511643A>G Copied from the Exome Variant Server PRKAR1A_000009 1/13006 0/8600 1/4406
1 c.132G>A r.(=) p.(=) g.66511672G>A Copied from the Exome Variant Server PRKAR1A_000010 1/13006 0/8600 1/4406
1 c.153G>A r.(=) p.(=) g.66511693G>A Copied from the Exome Variant Server PRKAR1A_000011 1/13006 1/8600 0/4406
1 c.156A>G r.(=) p.(=) g.66511696A>G Copied from the Exome Variant Server PRKAR1A_000012 2/13006 2/8600 0/4406
1 c.177+30T>G r.(=) p.(=) g.66511747T>G Copied from the Exome Variant Server PRKAR1A_000013 17/13006 17/8600 0/4406
1 c.178-38C>T r.(=) p.(=) g.66518859C>T Copied from the Exome Variant Server PRKAR1A_000014 2/13006 1/8600 1/4406
1 c.178-19A>C r.(=) p.(=) g.66518878A>C Copied from the Exome Variant Server PRKAR1A_000015 1/13006 0/8600 1/4406
1 c.204G>A r.(=) p.(=) g.66518923G>A Copied from the Exome Variant Server PRKAR1A_000016 56/13006 1/8600 55/4406
1 c.220C>T r.(?) p.(Arg74Cys) g.66518939C>T Copied from the Exome Variant Server PRKAR1A_000017 1/13006 1/8600 0/4406
1 c.330G>A r.(=) p.(=) g.66519049G>A Copied from the Exome Variant Server PRKAR1A_000018 1/13006 0/8600 1/4406
1 c.348+13T>C r.(=) p.(=) g.66519080T>C Copied from the Exome Variant Server PRKAR1A_000019 1/13006 0/8600 1/4406
1 c.348+23G>A r.(=) p.(=) g.66519090G>A Copied from the Exome Variant Server PRKAR1A_000020 1/13006 1/8600 0/4406
1 c.349-48A>G r.(=) p.(=) g.66519818A>G Copied from the Exome Variant Server PRKAR1A_000021 2/13006 0/8600 2/4406
1 c.349-45del r.(=) p.(=) g.66519821del Copied from the Exome Variant Server PRKAR1A_000022 2/12518 1/8254 1/4264
1 c.349-9_349-8insT r.(=) p.(=) g.66519857_66519858insT Copied from the Exome Variant Server PRKAR1A_000023 2839/12518 1848/8254 991/4264
1 c.381T>C r.(=) p.(=) g.66519898T>C Copied from the Exome Variant Server PRKAR1A_000024 1/13006 1/8600 0/4406
1 c.440+7A>G r.(=) p.(=) g.66519964A>G Copied from the Exome Variant Server PRKAR1A_000025 1/13006 0/8600 1/4406
1 c.440+15T>C r.(=) p.(=) g.66519972T>C Copied from the Exome Variant Server PRKAR1A_000026 60/13006 1/8600 59/4406
1 c.440+34A>T r.(=) p.(=) g.66519991A>T Copied from the Exome Variant Server PRKAR1A_000027 2/13006 2/8600 0/4406
1 c.440+37T>G r.(=) p.(=) g.66519994T>G Copied from the Exome Variant Server PRKAR1A_000028 1/13006 1/8600 0/4406
1 c.441-47C>T r.(=) p.(=) g.66520110C>T Copied from the Exome Variant Server PRKAR1A_000029 1/13006 0/8600 1/4406
1 c.441-45G>A r.(=) p.(=) g.66520112G>A Copied from the Exome Variant Server PRKAR1A_000030 65/13006 55/8600 10/4406
1 c.441-24C>T r.(=) p.(=) g.66520133C>T Copied from the Exome Variant Server PRKAR1A_000031 1/13006 1/8600 0/4406
1 c.441-21G>T r.(=) p.(=) g.66520136G>T Copied from the Exome Variant Server PRKAR1A_000032 3/13006 0/8600 3/4406
1 c.441-16_441-14del r.(=) p.(=) g.66520141_66520143del Copied from the Exome Variant Server PRKAR1A_000033 414/12518 270/8254 144/4264
1 c.483A>G r.(=) p.(=) g.66520199A>G Copied from the Exome Variant Server PRKAR1A_000034 1/13006 0/8600 1/4406
1 c.489T>C r.(=) p.(=) g.66520205T>C Copied from the Exome Variant Server PRKAR1A_000035 15/13006 0/8600 15/4406
1 c.502+12_502+13del r.(=) p.(=) g.66520230_66520231del Copied from the Exome Variant Server PRKAR1A_000036 2/12518 0/8254 2/4264
1 c.502+26T>C r.(=) p.(=) g.66520244T>C Copied from the Exome Variant Server PRKAR1A_000037 159/13006 1/8600 158/4406
1 c.502+32C>T r.(=) p.(=) g.66520250C>T Copied from the Exome Variant Server PRKAR1A_000038 3/13006 1/8600 2/4406
1 c.502+40G>C r.(=) p.(=) g.66520258G>C Copied from the Exome Variant Server PRKAR1A_000039 1/13006 0/8600 1/4406
1 c.502+44C>T r.(=) p.(=) g.66520262C>T Copied from the Exome Variant Server PRKAR1A_000040 1/13006 1/8600 0/4406
1 c.502+49C>T r.(=) p.(=) g.66520267C>T Copied from the Exome Variant Server PRKAR1A_000041 5/13006 5/8600 0/4406
1 c.502+50_502+51del r.(=) p.(=) g.66520268_66520269del Copied from the Exome Variant Server PRKAR1A_000042 4/12518 0/8254 4/4264
1 c.503-52A>C r.(=) p.(=) g.66521001A>C Copied from the Exome Variant Server PRKAR1A_000043 1/10296 1/7160 0/3136
1 c.503-31A>G r.(=) p.(=) g.66521022A>G Copied from the Exome Variant Server PRKAR1A_000044 2/13006 2/8600 0/4406
1 c.522C>T r.(=) p.(=) g.66521072C>T Copied from the Exome Variant Server PRKAR1A_000045 1/13006 0/8600 1/4406
1 c.535C>G r.(?) p.(Gln179Glu) g.66521085C>G Copied from the Exome Variant Server PRKAR1A_000046 1/13006 0/8600 1/4406
1 c.545C>T r.(?) p.(Thr182Met) g.66521095C>T Copied from the Exome Variant Server PRKAR1A_000047 1/13006 0/8600 1/4406
1 c.549+14A>G r.(=) p.(=) g.66521113A>G Copied from the Exome Variant Server PRKAR1A_000048 17/13006 0/8600 17/4406
1 c.549+18C>G r.(=) p.(=) g.66521117C>G Copied from the Exome Variant Server PRKAR1A_000049 1/13006 1/8600 0/4406
1 c.549+32T>A r.(=) p.(=) g.66521131T>A Copied from the Exome Variant Server PRKAR1A_000050 4/13002 4/8596 0/4406
1 c.549+66A>G r.(=) p.(=) g.66521165A>G Copied from the Exome Variant Server PRKAR1A_000051 2/4562 2/3178 0/1384
1 c.550-18A>G r.(=) p.(=) g.66521877A>G Copied from the Exome Variant Server PRKAR1A_000052 446/13006 3/8600 443/4406
1 c.550-8C>T r.(=) p.(=) g.66521887C>T Copied from the Exome Variant Server PRKAR1A_000053 6/13006 0/8600 6/4406
1 c.554A>G r.(?) p.(Tyr185Cys) g.66521899A>G Copied from the Exome Variant Server PRKAR1A_000054 1/13006 1/8600 0/4406
1 c.675C>A r.(=) p.(=) g.66522020C>A Copied from the Exome Variant Server PRKAR1A_000055 3/13006 2/8600 1/4406
1 c.708+29A>G r.(=) p.(=) g.66522082A>G Copied from the Exome Variant Server PRKAR1A_000056 1/13006 1/8600 0/4406
1 c.708+36A>G r.(=) p.(=) g.66522089A>G Copied from the Exome Variant Server PRKAR1A_000057 1/13006 0/8600 1/4406
1 c.709-37G>A r.(=) p.(=) g.66523944G>A Copied from the Exome Variant Server PRKAR1A_000058 1/13006 0/8600 1/4406
1 c.717A>G r.(=) p.(=) g.66523989A>G Copied from the Exome Variant Server PRKAR1A_000059 1/13006 1/8600 0/4406
1 c.741G>C r.(?) p.(Glu247Asp) g.66524013G>C Copied from the Exome Variant Server PRKAR1A_000060 1/13006 1/8600 0/4406
1 c.769+24T>A r.(=) p.(=) g.66524065T>A Copied from the Exome Variant Server PRKAR1A_000061 5/13006 5/8600 0/4406
1 c.770-50A>C r.(=) p.(=) g.66524961A>C Copied from the Exome Variant Server PRKAR1A_000062 1/13006 0/8600 1/4406
1 c.770-27G>A r.(=) p.(=) g.66524984G>A Copied from the Exome Variant Server PRKAR1A_000063 1/13006 0/8600 1/4406
1 c.770-24G>A r.(=) p.(=) g.66524987G>A Copied from the Exome Variant Server PRKAR1A_000064 9494/13006 5694/8600 3800/4406
1 c.892-47G>C r.(=) p.(=) g.66526014G>C Copied from the Exome Variant Server PRKAR1A_000065 1/13006 1/8600 0/4406
1 c.892-34G>T r.(=) p.(=) g.66526027G>T Copied from the Exome Variant Server PRKAR1A_000066 9169/13006 5691/8600 3478/4406
1 c.973+54G>A r.(=) p.(=) g.66526196G>A Copied from the Exome Variant Server PRKAR1A_000067 13/4566 11/3182 2/1384
1 c.973+61A>G r.(=) p.(=) g.66526203A>G Copied from the Exome Variant Server PRKAR1A_000068 1/4566 0/3182 1/1384
1 c.974-19C>T r.(=) p.(=) g.66526399C>T Copied from the Exome Variant Server PRKAR1A_000069 2/13006 2/8600 0/4406
1 c.1024C>T r.(?) p.(Arg342Cys) g.66526468C>T Copied from the Exome Variant Server PRKAR1A_000070 2/13006 0/8600 2/4406
1 c.1029C>T r.(=) p.(=) g.66526473C>T Copied from the Exome Variant Server PRKAR1A_000071 29/13006 0/8600 29/4406
1 c.*2A>G r.(=) p.(=) g.66526592A>G Copied from the Exome Variant Server PRKAR1A_000072 1/13006 1/8600 0/4406
1 c.*46T>C r.(=) p.(=) g.66526636T>C Copied from the Exome Variant Server PRKAR1A_000073 1/13006 0/8600 1/4406
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