All variants affecting transcripts

54388 entries on 544 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AIP NM_003977.2 11 Parent #2 g.67250737C>G - AIP_000012 - - Germline - - - - Despoina Kalfakakou ?/? - c.99+9C>G r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67254459C>T - AIP_000007 rs202156895 - Germline - - - - Despoina Kalfakakou ?/? - c.100-18C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67254459C>T - AIP_000007 rs202156895 - Germline - - - - Despoina Kalfakakou ?/? - c.100-18C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258238G>A - AIP_000003 - - Germline - - - - Despoina Kalfakakou ?/? - c.788-21G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67256743G>A - AIP_000017 rs774293360 - Germline - - - - Despoina Kalfakakou -?/-? - c.285G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250655G>A - AIP_000021 rs139459091 - Germline - - - - Despoina Kalfakakou ?/? - c.26G>A r.(?) p.(Arg9Gln)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250555A>T - AIP_000011 rs1306043384 - Germline - - - - Despoina Kalfakakou ?/? - c.-75A>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258302C>T - AIP_000025 rs531331351 - Germline - - - - Despoina Kalfakakou -?/-? - c.831C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258263C>T - AIP_000016 rs780707460 - Germline - - - - Despoina Kalfakakou ?/? - c.792C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67256942G>A - AIP_000024 - - Germline - - - - Despoina Kalfakakou ?/? - c.468+16G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67257763C>T - AIP_000031 - - Germline - - - - Despoina Kalfakakou ?/? - c.646-24C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67256701C>T - AIP_000029 - - Germline - - - - Despoina Kalfakakou ?/? - c.280-37C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250655G>A - AIP_000021 rs139459091 - Germline - - - - Despoina Kalfakakou ?/? - c.26G>A r.(?) p.(Arg9Gln)
AIP NM_003977.2 11 Parent #2 g.67256942G>A - AIP_000024 - - Germline - - - - Despoina Kalfakakou ?/? - c.468+16G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67256942G>A - AIP_000024 - - Germline - - - - Despoina Kalfakakou ?/? - c.468+16G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67257718G>A - AIP_000028 - - Germline - - - - Despoina Kalfakakou ?/? - c.645+33G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67258449G>A - AIP_000006 - - Germline - - - - Despoina Kalfakakou ?/? - c.978G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67254522G>T - AIP_000008 rs1063385 - Germline - - - - Despoina Kalfakakou ?/? - c.145G>T r.(?) p.(Val49Leu)
AIP NM_003977.2 11 Parent #2 g.67256953C>G - AIP_000022 - - Germline - - - - Despoina Kalfakakou ?/? - c.468+27C>G r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67257718G>A - AIP_000028 - - Germline - - - - Despoina Kalfakakou ?/? - c.645+33G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67254471C>A - AIP_000019 - - Germline - - - - Despoina Kalfakakou ?/? - c.100-6C>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67257744C>G - AIP_000018 - - Germline - - - - Despoina Kalfakakou ?/? - c.646-43C>G r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258229_67258230insTGCCCAC - AIP_000030 - - Germline - - - - Despoina Kalfakakou ?/? - c.788-30_788-29insTGCCCAC r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67257476G>A - AIP_000032 - - Germline - - - - Despoina Kalfakakou ?/? - c.469-33G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258445G>A - AIP_000014 rs754619109 - Germline - - - - Despoina Kalfakakou ?/? - c.974G>A r.(?) p.(Arg325Gln)
AIP NM_003977.2 11 Parent #2 g.67257458C>T - AIP_000034 - - Germline - - - - Despoina Kalfakakou ?/? - c.469-51C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250566A>G - AIP_000023 - - Germline - - - - Despoina Kalfakakou ?/? - c.-64A>G r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258328C>A - AIP_000026 - - Germline - - - - Despoina Kalfakakou ?/? - c.857C>A r.(?) p.(Ala286Asp)
AIP NM_003977.2 11 Parent #2 g.67257767C>G - AIP_000035 - - Germline - - - - Despoina Kalfakakou ?/? - c.646-20C>G r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250563C>T - AIP_000015 - - Germline - - - - Despoina Kalfakakou ?/? - c.-67C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67256897C>G - AIP_000001 - - Germline - - - - Despoina Kalfakakou ?/? - c.439C>G r.(?) p.(Pro147Ala)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67257459G>A - AIP_000002 - - Germline - - - - Despoina Kalfakakou ?/? - c.469-50G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258229_67258230insTGCCCAC - AIP_000030 - - Germline - - - - Despoina Kalfakakou ?/? - c.788-30_788-29insTGCCCAC r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67257722G>C - AIP_000027 - - Germline - - - - Despoina Kalfakakou ?/? - c.645+37G>C r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67257472C>A - AIP_000013 - - Germline - - - - Despoina Kalfakakou ?/? - c.469-37C>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou -?/-? - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67254471C>A - AIP_000019 - - Germline - - - - Despoina Kalfakakou ?/? - c.100-6C>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67258449G>A - AIP_000006 - - Germline - - - - Despoina Kalfakakou ?/? - c.978G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67257475C>T - AIP_000020 - - Germline - - - - Despoina Kalfakakou ?/? - c.469-34C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67257613C>T - AIP_000033 rs781545373 - Germline - - - - Despoina Kalfakakou ?/? - c.573C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67256743G>A - AIP_000017 rs774293360 - Germline - - - - Despoina Kalfakakou -?/-? - c.285G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250655G>A - AIP_000021 rs139459091 - Germline - - - - Despoina Kalfakakou ?/? - c.26G>A r.(?) p.(Arg9Gln)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou -?/-? - c.47G>A r.(?) p.(Arg16His)
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