Full data view for gene CAPN3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000070.2 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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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     
+/. 20 c.2120A>G r.2120a>g p.Asp707Gly Parent #1 - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 control chromosomes PubMed: Minami - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Minami - M no Japan - - - - - 1 Johan den Dunnen
+/. 20 c.2120A>G r.2120a>g p.Asp707Gly Parent #2 - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 control chromosomes PubMed: Minami - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Minami - M no Japan - - - - - 1 Johan den Dunnen
+/. 20 c.2120A>G r.2120a>g p.Asp707Gly Parent #1 - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Chae 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Chae 2001 - M - Japan - - - - - 1 Johan den Dunnen
+/. 20 c.2120A>G r.2120a>g p.Asp707Gly Parent #2 - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Chae 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Chae 2001 - M - Japan - - - - - 1 Johan den Dunnen
+/. 20 c.2120A>G r.2120a>g p.Asp707Gly Parent #1 - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Chae 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Chae 2001 - M - Japan - - - - - 1 Johan den Dunnen
+/. 20 c.2120A>G r.2120a>g p.Asp707Gly Parent #2 - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Chae 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Chae 2001 - M - Japan - - - - - 1 Johan den Dunnen
+/. 20 c.2120A>G r.2120a>g p.Asp707Gly Parent #1 - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Chae 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Chae 2001 - M - Japan - - - - - 1 Johan den Dunnen
+/. 20 c.2120A>G r.2120a>g p.Asp707Gly Parent #1 - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - - - - - United States - - - - - 1 Johan den Dunnen
+/. 20 c.2120A>G r.2120a>g p.Asp707Gly Parent #1 - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Chae 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Chae 2001 brother and sister F;M - Japan - - - - - 2 Johan den Dunnen
+/. 20 c.2120A>G r.2120a>g p.Asp707Gly Parent #2 - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Chae 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Chae 2001 - M - Japan - - - - - 1 Johan den Dunnen
+/. 20 c.2120A>G r.2120A>G p.Asp707Gly Parent #2 - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Chae 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Chae 2001 - M - Japan - - - - - 1 Johan den Dunnen
+/. 20 c.2120A>G r.2120a>g p.Asp707Gly Unknown - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Minami - - Germline - 0/188 - - - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Minami - - - Japan - - - - - 1 Johan den Dunnen
+/. 20 c.2120A>G r.2120a>g p.Asp707Gly Unknown - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Minami - - Germline - 0/188 - - - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Minami - - - Japan - - - - - 1 Johan den Dunnen
+/. 20 c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - F - Canada - - - - - 1 Tom Winder
+/. 20 c.2120A>G r.(?) p.(Asp707Gly) Unknown - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 20 c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Izumi 2015, Izumi 2020 (submitted) - rs200379491 Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys76-1 PubMed: Izumi 2015 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Izumi 2015, Izumi 2020 (submitted) - rs200379491 Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys189-1 PubMed: Izumi 2015 - M - Japan - - - - - 1 Johan den Dunnen
+?/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - likely pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat114 PubMed: Park 2017 - M - Korea - - - - - 1 Johan den Dunnen
+?/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - likely pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat172 PubMed: Park 2017 - F - Korea - - - - - 1 Johan den Dunnen
+?/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - likely pathogenic g.42702630A>G g.42410432A>G - - CAPN3_000118 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200379491 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.2120A>G r.(?) p.(Asp707Gly) Paternal (confirmed) - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P46 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 no variant 2nd chromosome PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P88 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P11 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P121 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
?/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - VUS g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P124 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
+/. - c.2120A>G r.(?) p.(Asp707Gly) Maternal (confirmed) - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P153 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
+/. - c.2120A>G r.(?) p.(Asp707Gly) Maternal (confirmed) - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P160 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat120 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat128 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat1 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat24 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat36 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat38 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat39 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat40 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat41 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat44 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat45 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat50 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat52 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat53 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat55 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat58 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat60 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat62 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat69 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat71 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat84 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat90 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Both (homozygous) - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat91 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Both (homozygous) - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat94 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat100 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat121 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #1 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat122 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat4 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat7 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat8 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat30 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat34 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat35 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat43 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat59 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat63 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat68 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat97 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat99 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat111 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat116 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Zhong 2021 - - Germline/De novo (untested) - 42/248 chromosomes cases - - - DNA SEQ - - LGMD Pat124 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 20 c.2120A>G r.(?) p.(Asp707Gly) Parent #2 - pathogenic (recessive) g.42702630A>G g.42410432A>G - - CAPN3_000118 - PubMed: Hamaguchi 2019 - - Germline - - - - - DNA SEQ - - LGMD patient PubMed: Hamaguchi 2019 - M no Japan - - - - - 1 Johan den Dunnen
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