Full data view for 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.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 37 c.(5234G>A) r.5234g>a p.Arg1745His Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - - - - Germline - - - - - RNA MLPA, RT-PCR, SEQ - - BMD - - - M - - - - - - - 1 Akanchha Kesari
-/. 37 c.(5234G>A) r.5234g>a p.Arg1745His Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - - - - Germline - - - - - RNA MLPA, RT-PCR, SEQ - - BMD - - - M - - - - - - - 1 Akanchha Kesari
-/. 37 c.(5234G>A) r.5234g>a p.Arg1745His Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - - - - Germline - - - - - DNA, RNA MLPA, RT-PCR, SEQ - - BMD - - - M - - - - - - - 1 Akanchha Kesari
-/. 37 c.(5234G>A) r.5234g>a p.Arg1745His Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - - - - Germline - - - - - RNA MLPA, RT-PCR, SEQ - - BMD - - - M - - - - - - - 1 Akanchha Kesari
-/. 37 c.(5234G>A) r.5234g>a p.Arg1745His Maternal (inferred) - benign g.32380996C>T g.32362879C>T - - DMD_001039 - - - - Germline - - - - - RNA RT-PCR, SEQ - - DMD - - - M - Spain - - - - - 1 Jonás Juan-Mateu
?/. 37 c.5234G>A r.(?) p.(Arg1745His) Maternal (inferred) - VUS g.32380996C>T g.32362879C>T - - DMD_001039 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 37 c.5234G>A r.(?) p.(Arg1745His) Maternal (inferred) - VUS g.32380996C>T g.32362879C>T - - DMD_001039 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. 37 c.5234G>A r.(=) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Rininsland - rs1801187 Germline - 41/99 SacII- - - DNA CMC - - DMD - PubMed: Rininsland - M - Germany - - - - - 41 Johan den Dunnen
-/. 37 c.5234G>A r.(=) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - - - - Germline - 3/6 SacII- - - DNA DOVAM - - DMD - - - M - United States - - - - - 3 Carolyn Buzin
-/. 37 c.5234G>A r.5234g>a p.Arg1745His Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Roberts 1992 - - Germline - - SacII- - - DNA, RNA RT-PCR, CMC - - DMD - PubMed: Roberts 1992 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.5234g>a p.Arg1745His Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Roberts 1992 - - Germline - - SacII- - - DNA, RNA RT-PCR, CMC - - DMD - PubMed: Roberts 1992 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.5234g>a p.Arg1745His Maternal (confirmed) - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Roberts 1992 - - Germline - - SacII- - - DNA, RNA RT-PCR, CMC - - DMD - PubMed: Roberts 1992 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.(=) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Flanigan 2009 - - Germline - 329/695 SacII- - - DNA SEQ - - DMD 19937601.p PubMed: Flanigan 2009 - M - United States - - - - - 329 Kevin Flanigan
-/. 37 c.5234G>A r.5234g>a p.Arg1745His Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - - - - Germline - 14/38 SacII- - - DNA, RNA SEQ - - DMD - - - - - Netherlands - - - - - 14 Ieke Ginjaar
-/. 37 c.5234G>A r.5234g>a p.Arg1745His Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - - - - Germline - 15/38 SacII- - - DNA, RNA SEQ - - DMD - - - M - United States - - - - - 15 Sherifa Ahmed Hamed
-/. 37 c.5234G>A r.(=) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Bennett - - Germline - - SacII- - - DNA DHPLC, SEQ - - DMD - PubMed: Bennett - M - United States - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.(=) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Bennett - - Germline - - SacII- - - DNA DHPLC, SEQ - - DMD - PubMed: Bennett - M - United States - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.(=) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Bennett - - Germline - - SacII- - - DNA DHPLC, SEQ - - DMD - PubMed: Bennett - M - United States - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.(=) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Shen 2006 - - Germline - - SacII- - - DNA DHPLC - - DMD - PubMed: Shen 2006 no pathogenic change found M - China - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 - M - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - - - - Germline - 21/34 - - - DNA MCA, SEQ - - BMD - - obligate carrier female BMD F - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 obligate carrier female (BMD/DMD) F - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 obligate carrier female (BMD/DMD) F - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - BMD - PubMed: Almomani 2009 - M - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA - - DMD - PubMed: Almomani 2009 - M - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 possible female carrier (BMD/DMD) F - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 - M - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 possible female carrier (BMD/DMD) F - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA - - DMD - PubMed: Almomani 2009 - M - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 - M - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 - M - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - BMD - PubMed: Almomani 2009 - M - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 possible female carrier (BMD/DMD) F - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 obligate carrier female (BMD/DMD) F - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 possible female carrier (BMD/DMD) F - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 - M - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA - - DMD - PubMed: Almomani 2009 - M - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 - M - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 possible female carrier (BMD/DMD) F - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Almomani 2009 - - Germline - 21/34 - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 manifesting carrier F - Netherlands - - - - - 1 Ieke Ginjaar
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - - - - Germline - - - - - DNA SEQ - - DMD - - - - - (Germany) - - - - - 1 Birgit Neitzel
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T 5442G>A - DMD_001039 - PS Lai ASHG 2010 A1642 - - Germline - - - - - DNA MCA, SEQ - - DMD - PS Lai ASHG 2010 A1642 - M - Singapore - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.(?) p.(=) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 2x combined with pathogenic variant PhD thesis A.Esterhuizen (Cape Town) - - Germline - 3/18 - - - DNA MCA, SEQ - - DMD - - - M - South Africa - - - - - 3 Johan den Dunnen
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 37 c.5234G>A r.(?) p.(Arg1745His) Maternal (inferred) - VUS g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Yang 2013 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat12 PubMed: Yang 2013 - M - China - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.(=) p.(Arg1745His) Maternal (inferred) - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Muscarella 2007 - - Germline - - SacII- - - DNA DHPLC, SEQ - - DMD 17145200-Pat1 PubMed: Muscarella 2007 - M - Italy - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.(=) p.(Arg1745His) Maternal (inferred) - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Muscarella 2007 - - Germline - - SacII- - - DNA DHPLC, SEQ - - DMD 17145200-Pat3 PubMed: Muscarella 2007 - M - Italy - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.(=) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - Prior ASHG 2003 A1415 - - Germline - - SacII- - - DNA DHPLC - - DMD - Prior ASHG 2003 A1415 - M - United States - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.(=) p.(Arg1745His) Parent #1 - benign g.32380996C>T g.32362879C>T - - DMD_001039 - Richards ASHG 2003 A2335 - - Germline - - SacII- - - DNA DHPLC - - DMD - Richards ASHG 2003 A2335 - M - United States - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T DMD(NM_004006.3):c.5234G>A (p.R1745H), DMD(NM_004010.3):c.4865G>A (p.R1622H) - DMD_001039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T DMD(NM_004006.3):c.5234G>A (p.R1745H), DMD(NM_004010.3):c.4865G>A (p.R1622H) - DMD_001039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Maternal (confirmed) - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Zhu 2016 - - Germline - - - - - DNA SEQ - capture sequencing - 27421007-Pat1 PubMed: Zhu 2016 3-generation family, 1 affected, unaffected heterozygous carrier mother/maternal grandmother M - China - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Maternal (confirmed) - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Niba 2014 - - Germline - - - - - DNA MLPA, SEQ - - DMD 24892813-Fam PubMed: Niba 2014 3-generation family, 2 affecteds (boy/uncle), unaffected carrier mother/sister M no Viet Nam - - - - - 2 Johan den Dunnen
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Both (homozygous) - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Niba 2014 - - Germline - - - - - DNA SEQ - - Healthy/Control 24892813-FamPatIII2 PubMed: Niba 2014 initially affcted cousin F no Viet Nam - - - - - 1 Johan den Dunnen
+/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - pathogenic (recessive) g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - DMD Pat156 PubMed: Ma 2018, Journal: Ma 2018 carrier status mother not known M - China - - - - - 1 Johan den Dunnen
+?/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - likely pathogenic g.32380996C>T g.32362879C>T 5234G>A;7096C>A - DMD_001039 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - - - DNA DHPLC, PCR, SEQ - - DMD F143 PubMed: Xu 2018 analysis 237 DMD families M - China - - - - - 1 Johan den Dunnen
+?/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - likely pathogenic g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - - - DNA DHPLC, PCR, SEQ - - DMD F34 PubMed: Xu 2018 analysis 237 DMD families M - China - - - - - 1 Johan den Dunnen
+?/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - likely pathogenic g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - - - DNA DHPLC, PCR, SEQ - - DMD F107 PubMed: Xu 2018 analysis 237 DMD families M - China - - - - - 1 Johan den Dunnen
+?/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - likely pathogenic g.32380996C>T g.32362879C>T 5234G>A;7096C>A - DMD_001039 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - - - DNA DHPLC, PCR, SEQ - - DMD F173 PubMed: Xu 2018 analysis 237 DMD families M - China - - - - - 1 Johan den Dunnen
+?/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - likely pathogenic g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - - - DNA DHPLC, PCR, SEQ - - DMD F39 PubMed: Xu 2018 analysis 237 DMD families M - China - - - - - 1 Johan den Dunnen
-?/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - likely benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Bonnal 2010 - - Germline - 7/153 cases - - - DNA DHPLC, SEQ - - BMD/DMD - PubMed: Bonnal 2010 - M - Italy - - - - - 7 Vincenzo Nigro
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Hwa 2008 - - Germline - 0.4 cases - - - DNA SEQ - - BMD/DMD - PubMed: Hwa 2008 - - - Taiwan - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: Juan-Mateu 2015 - - Germline - 41/77 chromosomes (0.506) - - - DNA SEQ - - BMD/DMD - PubMed: Juan-Mateu 2015 - M - Spain - - - - - 41 Jonás Juan-Mateu
-?/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - likely benign g.32380996C>T g.32362879C>T - - DMD_001039 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.679 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T - - - DMD_001039 - PubMed: Zehravi 2021 - - Germline - - - - - DNA SEQ-NG-I Blood WES RMD2;LGMD1C Patient 1 PubMed: Zehravi 2021 - M yes Pakistan Asian - - Yes No 1 Mehwish Zehravi
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown ACMG benign g.32380996C>T g.32362879C>T - - DMD_001039 - PubMed: De Palma 2021 - rs1801187 Germline - - - - - DNA SEQ, SEQ-NG - - BMD/DMD - PubMed: De Palma 2021 - - - Italy - - - - - 1 Johan den Dunnen
-/. 37 c.5234G>A r.(?) p.(Arg1745His) Unknown - benign g.32380996C>T g.32362879C>T - - DMD_001039 - gnomAD - rs1801187 Germline - 104904/204349 chromosomes - - - DNA SEQ-NG - WES/WGS Healthy/Control - gnomAD - - - - - - - - - 1 Johan den Dunnen
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