All transcript variants in gene DMD

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages.
NOTE: for MLPA-detected deletion/duplication variants we use a probe-based HGVS description, for the exon-based description check the "Published as" column.
Information The variants shown are described using the NM_004006.2 transcript reference sequence.

160 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.? p.(fs) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - 0 - Manuel F. Mas Rodriguez
+/+ 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 14/188 duplications (0.074) PubMed: Okubo 2017 - - Germline/De novo (untested) - 14/1497 cases - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup ex2 dup; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - Ayala-Ramirez, ASHG2017 P1070 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup ex2 dup; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - Ayala-Ramirez, ASHG2017 P1070 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup ex2 dup; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Alessandra Ferlini
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup ex2 dup; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Alessandra Ferlini
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*?) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Stockley 2007 - - Germline - - - 0 - Peter Ray
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.32_93dup p.Phe32Metfs*15 g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Ikezawa - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 mother germline mosaic; de novo, in mother (grandpaternal allele) Fahsold, ASHG2004, P1489 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 1658 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 1657 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 1476 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.32_93dup p.Phe32Metfs*15 g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 2381 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 2827 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 510 database - - De novo - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 2798 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 31 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 2688 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 2926 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.[93_94ins21; 32_93dup] p.Phe32Metfs*15 g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 2949 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 2883 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 2746 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2803 database - - De novo - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 2742 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 2802 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 2801 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 2888 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 2896 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2576 database - - De novo - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Tuffery-Giraud 2009, UMD 2214 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - Juan ESHG2008 P06.183 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - Juan ESHG2008 P06.183 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - Juan ESHG2008 P06.183 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - Juan ESHG2008 P06.183 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Lo 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.? g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup chrX:g.(32863925_32864133)_(33031976_33032203)dup; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 167.9 Kb duplication PubMed: delGaudio 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.? g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup chrX:g.(32811059_32811326)_(33029174_33029856)dup; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 217.9 Kb duplication PubMed: delGaudio 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.? g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup chrX:g.(32828058_32828828)_(32999560_32999755)dup; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 170.8 Kb duplication PubMed: delGaudio 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.? g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup chrX:g.(32885187_32885277)_(32946802_32946988)dup; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 61.6 Kb duplication PubMed: delGaudio 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup chrX:g.(32918366_32918620)_(33078156_33078950)dup; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 160 Kb duplication exon 2 PubMed: delGaudio 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(e2-e2dup) p.(fs) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup dup e2; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Chen 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(e2-e2dup) p.(fs) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup dup e2; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Chen 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(e2-e2dup) p.(fs) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup dup e2; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Chen 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(e2-e2dup) p.(fs) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup dup e2; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Chen 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(e2-e2dup) p.(fs?) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup dup e2; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Chen 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(e2-e2dup) p.(fs) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup dup e2; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Chen 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(e2-e2dup) p.(fs?) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup dup e2; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Chen 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(e2-e2dup) p.(fs) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup dup e2; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Chen 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(e2-e2dup) p.(fs) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup dup e2; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Chen 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(e2-e2dup) p.(fs?) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup dup e2; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Chen 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.32_93dup p.Phe32Metfs*15 g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 RNA muscle PubMed: Hamed 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: White 2002, PubMed: Buzin 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: White 2002, PubMed: Buzin 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: White 2002, PubMed: Buzin 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Hwa 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.32_93dup p.Phe32Metfs*15 g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 RNA muscle PubMed: Hamed 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Gatta 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Mireille Claustres
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.32_93dup p.Phe32Metfs*15 g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 RNA muscle - - - Germline - - - 0 - Mireille Claustres
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.32_93dup p.Phe32Metfs*15 g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 RNA muscle - - - Germline - - - 0 - Mireille Claustres
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Tanja Lalic
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Schwartz 2004 - - Germline - - - 0 - Marianne Schwartz
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Jesus Molano
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
?/. 1i_2i c.(-182_59)_(59_128)dup VUS r.(32_93dup) p.(fs*?) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Akanchha Kesari
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 de novo, in mother - - - Germline - - - 0 - Peter Taylor
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Peter Taylor
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Peter Taylor
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Peter Taylor
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Peter Taylor
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.? g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 250 Kb duplication PubMed: Saillour 2008 - - Germline - - - 0 - Svetlana Kocheva
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - - - - Germline - - - 0 - Kevin Flanigan
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.(32_93dup) p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
Legend   « First ‹ Prev     1 2     Next › Last »