Unique variants in gene PRKAR1A

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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 2 - c.-6-4G>C r.spl? p.? g.66511531G>C - PRKAR1A_000016 - - - - Despoina Kalfakakou
./. 1 - c.60C>G r.(=) p.(=) g.66511600C>G - PRKAR1A_000028 - - - - Despoina Kalfakakou
./. 1 - c.98A>G r.(?) p.(Asp33Gly) g.66511638A>G - PRKAR1A_000015 - - - - Despoina Kalfakakou
./. 1 - c.156A>G r.(=) p.(=) g.66511696A>G - PRKAR1A_000007 - - - - Despoina Kalfakakou
./. 23 - c.177+30T>G r.(=) p.(=) g.66511747T>G - PRKAR1A_000002 - - - - Despoina Kalfakakou
./. 1 - c.178-15C>T r.(=) p.(=) g.66518882C>T - PRKAR1A_000025 - - - - Despoina Kalfakakou
./. 2 - c.204G>A r.(=) p.(=) g.66518923G>A - PRKAR1A_000026 rs74863634 - - - Despoina Kalfakakou
./. 2 - c.221G>A r.(?) p.(Arg74His) g.66518940G>A - PRKAR1A_000030 - - - - Despoina Kalfakakou
./. 1 - c.309G>A r.(=) p.(=) g.66519028G>A - PRKAR1A_000029 - - - - Despoina Kalfakakou
./. 5 - c.440+14C>A r.(=) p.(=) g.66519971C>A - PRKAR1A_000018 - - - - Despoina Kalfakakou
./. 12 - c.441-45G>A r.(=) p.(=) g.66520112G>A - PRKAR1A_000001 rs28730841 - - - Despoina Kalfakakou
./. 1 - c.503-38A>G r.(=) p.(=) g.66521015A>G - PRKAR1A_000017 - - - - Despoina Kalfakakou
./. 1 - c.503-31A>G r.(=) p.(=) g.66521022A>G - PRKAR1A_000019 - - - - Despoina Kalfakakou
./. 2 - c.503-19_503-18insT r.(=) p.(=) g.66521034_66521035insT - PRKAR1A_000024 - - - - Despoina Kalfakakou
./. 8 - c.549+32T>A r.(=) p.(=) g.66521131T>A - PRKAR1A_000003 - - - - Despoina Kalfakakou
./. 1 - c.584G>A r.(?) p.(Gly195Glu) g.66521929G>A - PRKAR1A_000012 - - - - Despoina Kalfakakou
./. 1 - c.585G>A r.(=) p.(=) g.66521930G>A - PRKAR1A_000013 - - - - Despoina Kalfakakou
./. 1 - c.606A>G r.(=) p.(=) g.66521951A>G - PRKAR1A_000022 - - - - Despoina Kalfakakou
./. 2 - c.678C>T r.(=) p.(=) g.66522023C>T - PRKAR1A_000021 - - - - Despoina Kalfakakou
./. 3 - c.708+29A>G r.(=) p.(=) g.66522082A>G - PRKAR1A_000023 - - - - Despoina Kalfakakou
./. 1 - c.769+43C>A r.(=) p.(=) g.66524084C>A - PRKAR1A_000014 - - - - Despoina Kalfakakou
./. 1 - c.770-40C>T r.(=) p.(=) g.66524971C>T - PRKAR1A_000031 - - - - Despoina Kalfakakou
./. 1 - c.770-14T>C r.(=) p.(=) g.66524997T>C - PRKAR1A_000004 - - - - Despoina Kalfakakou
./. 1 - c.822G>A r.(=) p.(=) g.66525063G>A - PRKAR1A_000005 - - - - Despoina Kalfakakou
./. 1 - c.877T>C r.(?) p.(Phe293Leu) g.66525118T>C - PRKAR1A_000008 - - - - Despoina Kalfakakou
./. 1 - c.879C>T r.(=) p.(=) g.66525120C>T - PRKAR1A_000009 - - - - Despoina Kalfakakou
./. 1 - c.974-37T>G r.(=) p.(=) g.66526381T>G - PRKAR1A_000027 - - - - Despoina Kalfakakou
./. 1 - c.1042G>A r.(?) p.(Val348Ile) g.66526486G>A - PRKAR1A_000020 - - - - Despoina Kalfakakou
./. 2 - c.*11C>T r.(=) p.(=) g.66526601C>T - PRKAR1A_000010 - - - - Despoina Kalfakakou
./. 3 - c.*14T>G r.(=) p.(=) g.66526604T>G - PRKAR1A_000011 - - - - Despoina Kalfakakou
./. 4 - c.*39T>G r.(=) p.(=) g.66526629T>G - PRKAR1A_000006 - - - - Despoina Kalfakakou
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