All variants affecting transcripts

43168 entries on 432 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AIP NM_003977.2 11 Parent #2 g.67250737C>G - AIP_000012 - - - - Despoina Kalfakakou ./. - c.99+9C>G r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67254459C>T - AIP_000007 - - - - Despoina Kalfakakou ./. - c.100-18C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67254459C>T - AIP_000007 - - - - Despoina Kalfakakou ./. - c.100-18C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258238G>A - AIP_000003 - - - - Despoina Kalfakakou ./. - c.788-21G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67256743G>A - AIP_000017 - - - - Despoina Kalfakakou ./. - c.285G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250655G>A - AIP_000021 - - - - Despoina Kalfakakou ./. - c.26G>A r.(?) p.(Arg9Gln)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250555A>T - AIP_000011 - - - - Despoina Kalfakakou ./. - c.-75A>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258302C>T - AIP_000025 - - - - Despoina Kalfakakou ./. - c.831C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258263C>T - AIP_000016 - - - - Despoina Kalfakakou ./. - c.792C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67256942G>A - AIP_000024 - - - - Despoina Kalfakakou ./. - c.468+16G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67257763C>T - AIP_000031 - - - - Despoina Kalfakakou ./. - c.646-24C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67256701C>T - AIP_000029 - - - - Despoina Kalfakakou ./. - c.280-37C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250655G>A - AIP_000021 - - - - Despoina Kalfakakou ./. - c.26G>A r.(?) p.(Arg9Gln)
AIP NM_003977.2 11 Parent #2 g.67256942G>A - AIP_000024 - - - - Despoina Kalfakakou ./. - c.468+16G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67256942G>A - AIP_000024 - - - - Despoina Kalfakakou ./. - c.468+16G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67257718G>A - AIP_000028 - - - - Despoina Kalfakakou ./. - c.645+33G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67258449G>A - AIP_000006 - - - - Despoina Kalfakakou ./. - c.978G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67254522G>T - AIP_000008 rs1063385 - - - Despoina Kalfakakou ./. - c.145G>T r.(?) p.(Val49Leu)
AIP NM_003977.2 11 Parent #2 g.67256953C>G - AIP_000022 - - - - Despoina Kalfakakou ./. - c.468+27C>G r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67257718G>A - AIP_000028 - - - - Despoina Kalfakakou ./. - c.645+33G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67254471C>A - AIP_000019 - - - - Despoina Kalfakakou ./. - c.100-6C>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67257744C>G - AIP_000018 - - - - Despoina Kalfakakou ./. - c.646-43C>G r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67257476G>A - AIP_000032 - - - - Despoina Kalfakakou ./. - c.469-33G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258445G>A - AIP_000014 - - - - Despoina Kalfakakou ./. - c.974G>A r.(?) p.(Arg325Gln)
AIP NM_003977.2 11 Parent #2 g.67257458C>T - AIP_000034 - - - - Despoina Kalfakakou ./. - c.469-51C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250566A>G - AIP_000023 - - - - Despoina Kalfakakou ./. - c.-64A>G r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258328C>A - AIP_000026 - - - - Despoina Kalfakakou ./. - c.857C>A r.(?) p.(Ala286Asp)
AIP NM_003977.2 11 Parent #2 g.67250563C>T - AIP_000015 - - - - Despoina Kalfakakou ./. - c.-67C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67256897C>G - AIP_000001 - - - - Despoina Kalfakakou ./. - c.439C>G r.(?) p.(Pro147Ala)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67257459G>A - AIP_000002 - - - - Despoina Kalfakakou ./. - c.469-50G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258229_67258230insTGCCCAC - AIP_000030 - - - - Despoina Kalfakakou ./. - c.788-30_788-29insTGCCCAC r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67257722G>C - AIP_000027 - - - - Despoina Kalfakakou ./. - c.645+37G>C r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67257472C>A - AIP_000013 - - - - Despoina Kalfakakou ./. - c.469-37C>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258449G>A - AIP_000006 - - - - Despoina Kalfakakou ./. - c.978G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67257475C>T - AIP_000020 - - - - Despoina Kalfakakou ./. - c.469-34C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67257613C>T - AIP_000033 - - - - Despoina Kalfakakou ./. - c.573C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67256743G>A - AIP_000017 - - - - Despoina Kalfakakou ./. - c.285G>A r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250655G>A - AIP_000021 - - - - Despoina Kalfakakou ./. - c.26G>A r.(?) p.(Arg9Gln)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Parent #2 g.67256953C>G - AIP_000022 - - - - Despoina Kalfakakou ./. - c.468+27C>G r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258278C>T - AIP_000004 - - - - Despoina Kalfakakou ./. - c.807C>T r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67258578G>C - AIP_000010 - - - - Despoina Kalfakakou ./. - c.*114G>C r.(=) p.(=)
AIP NM_003977.2 11 Parent #2 g.67250676G>A - AIP_000009 - - - - Despoina Kalfakakou ./. - c.47G>A r.(?) p.(Arg16His)
ALK NM_004304.4 2 Parent #2 g.29455276G>A - ALK_000005 - - - - Despoina Kalfakakou ./. - c.2526C>T r.(=) p.(=)
ALK NM_004304.4 2 Parent #2 g.29445192G>A - ALK_000008 rs79325200 - - - Despoina Kalfakakou ./. - c.3515+18C>T r.(=) p.(=)
ALK NM_004304.4 2 Parent #2 g.29917736C>T - ALK_000001 - - - - Despoina Kalfakakou ./. - c.932G>A r.(?) p.(Arg311His)
ALK NM_004304.4 2 Parent #2 g.29416678C>T - ALK_000066 - - - - Despoina Kalfakakou ./. - c.4275G>A r.(=) p.(=)
ALK NM_004304.4 2 Parent #2 g.29445192G>A - ALK_000008 rs79325200 - - - Despoina Kalfakakou ./. - c.3515+18C>T r.(=) p.(=)
ALK NM_004304.4 2 Parent #2 g.29416824A>T - ALK_000007 - - - - Despoina Kalfakakou ./. - c.4165-36T>A r.(=) p.(=)
ALK NM_004304.4 2 Parent #2 g.29606696C>T - ALK_000083 - - - - Despoina Kalfakakou ./. - c.1184G>A r.(?) p.(Arg395His)
ALK NM_004304.4 2 Parent #2 g.29455188C>T - ALK_000090 - - - - Despoina Kalfakakou ./. - c.2614G>A r.(?) p.(Gly872Ser)
ALK NM_004304.4 2 Parent #2 g.29416152C>T - ALK_000028 - - - - Despoina Kalfakakou ./. - c.4801G>A r.(?) p.(Ala1601Thr)
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