View all variants affecting transcripts

21637 entries on 217 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Effect     

Exon     

DNA change (cDNA)     

InSiGHT Class     

Published as     

RNA change     

Protein     

Splicing/transcript expression     

Consequence_Predicted     

Exon_old     

Variant_Type     

Chr     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
APC NM_000038.5 ?/. 16 c.7036C>T - - r.(?) p.(Pro2346Ser) - - - - 5 Unknown g.112178327C>T - APC_000001 - - Unknown ? Giulia Martina Cavestro, M.D., Ph.D.
APC NM_000038.5 +/. 5 c.589del - c.589delA r.(?) p.(Arg197Glufs*8) - - - - 5 Maternal (inferred) g.112116544del - APC_001559 - - Germline (inherited) - Rajiv Sarin
APC NM_000038.5 +/. 6 c.706C>T - - r.(?) p.(Gln236*) - - - - 5 Unknown g.112128203C>T - APC_000761 - - De novo - Rajiv Sarin
APC NM_000038.5 +/. 12 c.1620dup - c.1620dupA r.(?) p.(Gln541Thrfs*19) - - - - 5 Unknown g.112163697dupA - APC_000448 - - Germline (inherited) yes Rajiv Sarin
APC NM_000038.5 +/. 14 c.1779G>A - - r.(?) p.(Trp593*) - - - - 5 Unknown g.112170683G>A - APC_000222 - - Germline (inherited) - Rajiv Sarin
APC NM_000038.5 +/. 14 c.1861dup - c.1861dupA r.(?) p.(Thr621Asnfs*13) - - - - 5 Unknown g.112170765dup - APC_000048 - - Germline (inherited) - Rajiv Sarin
APC NM_000038.5 ?/. 15 c.5603A>G - - r.(?) p.(Asp1868Gly) - - - - 5 Unknown g.112176894A>G - APC_000002 - - Germline (inherited) ? Esther Sarasola
APC NM_000038.5 ?/. 15 c.6127A>G - - r.(?) p.(Ile2043Val) - - - - 5 Unknown g.112177418A>G - APC_000003 - - Unknown ? Esther Sarasola
APC NM_000038.5 +/. 15 c.3927_3931del - c.3927_3931delAAAGA r.(?) p.(Glu1309Aspfs*4) - - - - 5 Unknown g.112175218_112175222del - APC_000006 - somatic mosaicism; the same disease associated variant was identified in multiple polyps Somatic - Michele Ciavarella
APC NM_000038.5 +/. 5 c.637C>T - - r.(?) p.(Arg213*) - - - - 5 Unknown g.112116592C>T - APC_000034 - somatic mosaicism; the same disease associated variant was identified in multiple polyps Somatic - Michele Ciavarella
APC NM_000038.5 +/. 15 c.3927_3931del - c.3927_3931delAAAGA r.(?) p.(Glu1309Aspfs*4) - - - - 5 Unknown g.112175218_112175222del - APC_000006 - identified as II hit in one polyp Somatic - Michele Ciavarella
APC NM_000038.5 +/. 15 c.4187_4188del - c.4187_4188delTT r.(?) p.(Phe1396*) - - - - 5 Unknown g.112175478_112175479del - APC_001503 - identified as II hit in one polyp Somatic - Michele Ciavarella
APC NM_000038.5 +/. 15 c.2626C>T - - r.(?) p.(Arg876*) - - - - 5 Unknown g.112173917C>T - APC_000108 - somatic mosaicism; the same disease associated variant was identified in multiple polyps Somatic - Michele Ciavarella
APC NM_000038.5 +/. 15 c.4348C>T - - r.(?) p.(Arg1450*) - - - - 5 Unknown g.112175639C>T - APC_000087 - identified as II Hit in one polyp Somatic - Michele Ciavarella
APC NM_000038.5 +/. 15 c.4132C>T - - r.(?) p.(Gln1378*) - - - - 5 Unknown g.112175423C>T - APC_000283 - identified in one polyp Somatic - Michele Ciavarella
APC NM_000038.5 +/. 15 c.4233del - c.4233delT r.(?) p.(Ser1411Argfs*4) - - - - 5 Unknown g.112175524del - APC_001631 - identified in one polyp Somatic - Michele Ciavarella
APC NM_000038.5 +/. 6 c.694C>T - - r.(?) p.(Arg232*) - - - - 5 Unknown g.112128191C>T - APC_000070 - identified in one polyp Somatic - Michele Ciavarella
APC NM_000038.5 +/. 15 c.4393_4394del - c.4393_4394delAG r.(?) p.(Ser1465Trpfs*3) - - - - 5 Unknown g.112175684_112175685del - APC_000077 - somatic mosaicism; the same disease associated variant was identified in multiple polyps Somatic - Michele Ciavarella
APC NM_000038.5 +?/. 15 c.3081_3085delinsGAG - - r.(?) p.(Tyr1027*) - - - - 5 Unknown g.112174372_112174376delinsGAG - APC_001632 - identified as second hit Somatic - Michele Ciavarella
APC NM_000038.5 ?/. 15 c.3468_3470del - c.3468_3470delAGA r.(?) p.(Glu1157del) - - - - 5 Paternal (confirmed) g.112174759_112174761del - APC_001594 - - Germline (inherited) - Michele Ciavarella
APC NM_000038.5 ?/. 15 c.5486A>G - - r.(?) p.(Asn1829Ser) - - - - 5 Unknown g.112176777A>G - APC_001633 - - Unknown - sira moreno
APC NM_000038.5 ?/. 15 c.6127A>G - - r.(?) p.(Ile2043Val) - - - - 5 Unknown g.112177418A>G - APC_000003 - - Unknown - Esther Sarasola
APC NM_000038.5 +?/? 17 c.1875_1878del - - r.(?) p.(Asn627Leufs*2) - - - - 5 Unknown g.112170779_112170782del Copy of Watson submitted to LOVD shared database APC_000809 - - Germline (inherited) - LOVD_Shared
APC NM_000038.5 +?/? 18 c.3183_3187del - - r.(?) p.(Gln1062*) - - - - 5 Unknown g.112174474_112174478del Copy of Watson submitted to LOVD shared database APC_000004 - - Germline (inherited) - LOVD_Shared
APC NM_000038.5 +?/? 18 c.3095C>G - - r.(?) p.(Ser1032*) - - - - 5 Unknown g.112174386C>G Copy of Watson submitted to LOVD shared database APC_000689 - - Germline (inherited) - LOVD_Shared
APC NM_000038.5 +/+ _1i_18_ c.(?_-18-1)_(*1_?)del - g.52371-?_141606+?del r.0 p.0 - deletion, large _1_15_ deletion, large 5 Unknown g.(?_112090569)_(112179824_?)del Vogt and Aretz (unpublished) APC_000532 - - Unknown ? Stefan Aretz
APC NM_000038.5 +/+ 6 c.266C>A - - r.(?) p.(Ser89*) - nonsense 3 substitution 5 Unknown g.112102931C>A - APC_000741 - - Unknown ? Elke Holinski-Feder
APC NM_000038.5 ?/? 6 c.295C>T - - r.(?) p.(Arg99Trp) - missense 3 substitution 5 Unknown g.112102960C>T - APC_000420 - - Germline (inherited) ? Elke Holinski-Feder
APC NM_000038.5 ?/? 6 c.295C>T - codon 99, CGG --> TGG r.(?) p.(Arg99Trp) - missense 3 substitution 5 Unknown g.112102960C>T Dobbie et al. 1996 APC_000420 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 ?/? 6 c.295C>T - - r.(?) p.(Arg99Trp) - missense 3 substitution 5 Unknown g.112102960C>T Vogt and Aretz (unpublished) APC_000420 - rare variant Unknown ? Stefan Aretz
APC NM_000038.5 ?/? 6 c.295C>T - - r.(?) p.(Arg99Trp) - missense 3 substitution 5 Unknown g.112102960C>T Vogt and Aretz (unpublished) APC_000420 - rare variant Unknown ? Stefan Aretz
APC NM_000038.5 +/+ 6 c.301G>T - - r.(?) p.(Gly101*) - nonsense 3 substitution 5 Unknown g.112102966G>T Vogt and Aretz (unpublished) APC_000344 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 6 c.341del - 340delC r.(?) p.(Pro114Leufs*11) - frameshift 3 deletion, small 5 Unknown g.112103006del Fostira et al. 2010 APC_000742 - - De novo ? Stefan Aretz
APC NM_000038.5 +/+ 6 c.376G>T - G126X r.(?) p.(Gly126*) - nonsense 3 substitution 5 Unknown g.112103041G>T Sieber et al. 2006 APC_000743 - - Unknown ? Stefan Aretz
APC NM_000038.5 ?/? 6i c.423-4del - codon 142, aatag/GTC --> atag/GTC r.spl? p.? - splicing affected 3i deletion, small 5 Unknown g.112111322del Miyoshi et al. 1992 APC_000744 - - Unknown ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/? 6i c.423-1G>A - intron 3, -1 position, agGT --> aaGT r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Spirio et al. 1999 APC_000330 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 ?/? 6i c.423-1G>A - nt-1 of exon 4, AG --> AA r.spl p.? - splicing affected 3i substitution 5 Unknown g.112111325G>A Su et al. 2000 APC_000330 - - Unknown ? Stefan Aretz
APC NM_000038.5 +/+ 6i c.423-11A>G - - r.422_423ins423-10_423-1 p.Ser142Lysfs*3 - splicing affected 3i deletion, small 5 Unknown g.112111315A>G Vogt and Aretz (unpublished) APC_000384 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 6i c.423-11A>G - - r.422_423ins423-10_423-1 p.Ser142Lysfs*3 - splicing affected 3i deletion, small 5 Unknown g.112111315A>G Vogt and Aretz (unpublished) APC_000384 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 6i c.423-11A>G - - r.422_423ins423-10_423-1 p.Ser142Lysfs*3 - splicing affected 3i deletion, small 5 Unknown g.112111315A>G Vogt and Aretz (unpublished) APC_000384 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 6i c.423-11A>G - - r.422_423ins423-10_423-1 p.Ser142Lysfs*3 - splicing affected 3i deletion, small 5 Unknown g.112111315A>G Vogt and Aretz (unpublished) APC_000384 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 6i c.423-11A>G - - r.422_423ins423-10_423-1 p.Ser142Lysfs*3 - splicing affected 3i deletion, small 5 Unknown g.112111315A>G Vogt and Aretz (unpublished) APC_000384 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 6i c.423-11A>G - - r.422_423ins423-10_423-1 p.Ser142Lysfs*3 - splicing affected 3i deletion, small 5 Unknown g.112111315A>G Vogt and Aretz (unpublished) APC_000384 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 6i c.423-11A>G - - r.422_423ins423-10_423-1 p.Ser142Lysfs*3 - splicing affected 3i deletion, small 5 Unknown g.112111315A>G Vogt and Aretz (unpublished) APC_000384 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 6i c.423-11A>G - - r.422_423ins423-10_423-1 p.Ser142Lysfs*3 - splicing affected 3i deletion, small 5 Unknown g.112111315A>G Vogt and Aretz (unpublished) APC_000384 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 6i c.423-11A>G - - r.422_423ins423-10_423-1 p.Ser142Lysfs*3 - splicing affected 3i deletion, small 5 Unknown g.112111315A>G Vogt and Aretz (unpublished) APC_000384 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 7 c.469del - 469delT r.(?) p.(Trp157Glyfs*13) - frameshift 4 deletion, small 5 Unknown g.112111372del Miyaki et al. 1994; Enomoto et al. 2000 APC_000745 - - Unknown ? Stefan Aretz
APC NM_000038.5 +/+ 7 c.469dup - 487insT r.(?) p.(Trp157Leufs*11) - frameshift 4 duplication, small 5 Unknown g.112111372dup Walon et al. 1997 APC_000746 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 7 c.469dup - 487insT r.(?) p.(Trp157Leufs*11) - frameshift 4 duplication, small 5 Unknown g.112111372dup Walon et al. 1997 APC_000746 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 7 c.469dup - 487insT r.(?) p.(Trp157Leufs*11) - frameshift 4 duplication, small 5 Unknown g.112111372dup Walon et al. 1997 APC_000746 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 7 c.469dup - 487insT r.(?) p.(Trp157Leufs*11) - frameshift 4 duplication, small 5 Unknown g.112111372dup Walon et al. 1997 APC_000746 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 7 c.469dup - 487insT r.(?) p.(Trp157Leufs*11) - frameshift 4 duplication, small 5 Unknown g.112111372dup Walon et al. 1997 APC_000746 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 7 c.469dup - 487insT r.(?) p.(Trp157Leufs*11) - frameshift 4 duplication, small 5 Unknown g.112111372dup Walon et al. 1997 APC_000746 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 7 c.469dup - 487insT r.(?) p.(Trp157Leufs*11) - frameshift 4 duplication, small 5 Unknown g.112111372dup Walon et al. 1997 APC_000746 - - Germline (inherited) ? Stefan Aretz
APC NM_000038.5 +/+ 7 c.469dup - 487insT r.(?) p.(Trp157Leufs*11) - frameshift 4 duplication, small 5 Unknown g.112111372dup Walon et al. 1997 APC_000746 - - Germline (inherited) ? Stefan Aretz
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