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.

438 entries on 5 pages. Showing entries 1 - 100.
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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     
?/. 4 c.(550delA)? r.550del p.Thr184Argfs*36 Parent #1 - VUS g.42680002del - - - CAPN3_000010 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - RNA RT-PCR, SEQ - - LGMD - - - - - Australia - - - - - 1 Maria Chiotis
+/. - c.550del r.(?) p.(Thr184Argfs*36) Parent #1 ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PP2; additional variants in LDB3/ZASP x2, COL6A2, COL6A3, SGCD, POMT1, DYSF, SYNE2, MYH6, B3GALNT2 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat186a PubMed: Fichna 2018 - M - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Parent #1 ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PP2; additional variants in MYOT, SGCB, RYR1, NEB, SYNE2, TTN PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat175d PubMed: Fichna 2018 - M - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Both (homozygous) ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PM3, PP2; additional variants in COL6A3, FLNC, NEB,TTN x2 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat12 PubMed: Fichna 2018 - M - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Both (homozygous) ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PM3, PP2; additional variants in DNM2, , TMEM5, TTN x2 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat144 PubMed: Fichna 2018 - F - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Both (homozygous) ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PM3, PP2; additional variants in DYSF, TTN x6 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat212 PubMed: Fichna 2018 - F - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Both (homozygous) ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PM3, PP2 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat127 PubMed: Fichna 2018 - F - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Both (homozygous) ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PM3, PP2; additional variants in HSPG2, TTN PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat184a PubMed: Fichna 2018 - M - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Both (homozygous) ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PM3, PP2 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat6 PubMed: Fichna 2018 - F - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Parent #1 ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PP2; additional variants in LDB3/ZASP x2, POMT1, TMEM43 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat764 PubMed: Fichna 2018 - F - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Parent #1 ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PP2; additional variants in LDB3/ZASP x2, GBE1, TTN x4, PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat18 PubMed: Fichna 2018 - M - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Parent #1 ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PP2; PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD PatTO PubMed: Fichna 2018 - M - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Parent #1 ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PP2; additional variants in NEB x2, COL6A3, SYNE1 x2, TTN x5, LDB3/ZASP, HSPG2 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat8 PubMed: Fichna 2018 high CK in father M - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Parent #1 ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PP2; additional variants in COL12A1, NEB PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat13 PubMed: Fichna 2018 - F - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Parent #1 ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PP2; additional variants in FLNC, SYNE1, DCTN1, TTN x3 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat4 PubMed: Fichna 2018 - F - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Parent #1 ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PP2; additional variants in COL6A3, TARDBP, TTN x2 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat433 PubMed: Fichna 2018 - F - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Parent #1 ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PP2; additional variants in PLEC x3, SYNE1 x2, CCDC78, COL9A3, HSPG2 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat668 PubMed: Fichna 2018 - M - Poland - - - - - 1 Johan den Dunnen
+/. - c.550del r.(?) p.(Thr184Argfs*36) Parent #1 ACMG pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 ACMG grading: PVS1, PS3, PS4, PM1, PP2; additional variants in COL6A3, NEB, HSPG2, TTN x2, GNE PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat193a PubMed: Fichna 2018 - M - Poland - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 shared haplotypes PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - Germline - - - - - DNA PCR - - LGMD Fams PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - - Croatia (Hrvatska) - - - - - 11 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 shared haplotypes PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - Germline - - - - - DNA PCR - - LGMD Fams PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - - Croatia (Hrvatska) - - - - - 11 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36†) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.550del r.(?) p.(Thr184Argfs*36†) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.550del r.(?) p.(Thr184Argfs*36†) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.550del r.(?) p.(Thr184Argfs*36†) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic (recessive) g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - France - - - - - 1 Amets Sáenz
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic (recessive) g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - France - - - - - 1 Amets Sáenz
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Richard 1999 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - Russia - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Richard 1999 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - Russia - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - - Italy - - - - - 1 Marina Fanin
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - - Italy - - - - - 1 Marina Fanin
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Pogoda - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Pogoda 8 patients; estimated frequency amongst East Slavs 1/150 - - Russia - - - - - 8 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Pogoda - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Pogoda 8 patients; estimated frequency amongst East Slavs 1/150 - - Russia - - - - - 8 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Fanin 2004, OMIM:var0009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004, OMIM:var0009 - - - Albania - - - - - 1 Marina Fanin
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Fanin 2004, OMIM:var0009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004, OMIM:var0009 - - - Albania - - - - - 1 Marina Fanin
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - Germline - - - - - DNA PCR - - LGMD Fam13 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 2 brothers and sister F;M - Croatia (Hrvatska) - - - - - 3 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - Germline - - - - - DNA PCR - - LGMD Fam13 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 2 brothers and sister F;M - Croatia (Hrvatska) - - - - - 3 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Todorova 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Todorova 2007 - F - Bulgaria - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Todorova 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Todorova 2007 - F - Bulgaria - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - Georgieva ESHG2007, P677 - - Germline - - - - - DNA SEQ - - LGMD - Georgieva ESHG2007, P677 - M - Bulgaria - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - Georgieva ESHG2007, P677 - - Germline - - - - - DNA SEQ - - LGMD - Georgieva ESHG2007, P677 - M - Bulgaria - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - Georgieva ESHG2007, P677 - - Germline - - - - - DNA SEQ - - LGMD - Georgieva ESHG2007, P677 - M - Bulgaria - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - Georgieva ESHG2007, P677 - - Germline - - - - - DNA SEQ - - LGMD - Georgieva ESHG2007, P677 - M - Bulgaria - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - Georgieva ESHG2007, P677 - - Germline - - - - - DNA SEQ - - LGMD - Georgieva ESHG2007, P677 - F - Bulgaria - - - - - 2 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - Georgieva ESHG2007, P677 - - Germline - - - - - DNA SEQ - - LGMD - Georgieva ESHG2007, P677 - F - Bulgaria - - - - - 2 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Both (homozygous) - pathogenic (recessive) g.42680002del g.42387804del 550delA - CAPN3_000010 - Meznaric-Petrusa WMS 2002 (D.P.3.3), Journal: Meznaric-Petrusa 2002 - - Germline - - - - - DNA DHPLC - - LGMD - Meznaric-Petrusa WMS 2002 (D.P.3.3), Journal: Meznaric-Petrusa 2002 - - - Slovenia - - - - - 3 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Fanin 2004, OMIM:var0009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004, OMIM:var0009 - - - Slovenia - - - - - 1 Marina Fanin
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Fanin 2004, OMIM:var0009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004, OMIM:var0009 - - - Slovenia - - - - - 1 Marina Fanin
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - - Italy - - - - - 1 Marina Fanin
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - - Italy - - - - - 1 Marina Fanin
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Georgieva 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Georgieva 2005 - F no Bulgaria - - - - - 5 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Georgieva 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Georgieva 2005 - F no Bulgaria - - - - - 5 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Hermanova 2005 - - Germline - - - - - DNA DHPLC - - LGMD Pat9 PubMed: Hermanova 2005 - F - Czech Republic - >26y - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Hermanova 2005 - - Germline - - - - - DNA DHPLC - - LGMD Pat9 PubMed: Hermanova 2005 - F - Czech Republic - >26y - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Krahn 2006 - - Germline - - - - - DNA DHPLC - - LGMD Pat70 PubMed: Krahn 2006 - F - France - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Krahn 2006 - - Germline - - - - - DNA DHPLC - - LGMD Pat70 PubMed: Krahn 2006 - F - France - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Both (homozygous) - pathogenic (dominant) g.42680002del g.42387804del 551delA - CAPN3_000010 - PubMed: Richard 1997, PubMed: Restagno 1997 - - Germline - - - - - DNA SEQ - - LGMD 09150160-IT5414 PubMed: Richard 1997, PubMed: Restagno 1997 3-generation family, 4 affecteds (2M, 2F, 1 fetus) - - Italy - - - - - 6 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 551delA - CAPN3_000010 - PubMed: Dincer 1997 - - Germline - - - - - DNA SEQ - - LGMD 09266733-Fam15 PubMed: Dincer 1997 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 551delA - CAPN3_000010 - PubMed: Dincer 1997 - - Germline - - - - - DNA SEQ - - LGMD 09266733-Fam15 PubMed: Dincer 1997 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Milic 2005 - - Germline - - - - - DNA PCR - - LGMD Fam6 / Fam17 PubMed: Milic 2005 shared haplotypes - - Croatia (Hrvatska) - - - - - 2 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Milic 2005 - - Germline - - - - - DNA PCR - - LGMD Fam6 / Fam17 PubMed: Milic 2005 shared haplotypes - - Croatia (Hrvatska) - - - - - 2 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - - Italy - - - - - 1 Marina Fanin
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0009 - - - Italy - - - - - 1 Marina Fanin
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Hermanova 2005 - - Germline - - - - - DNA DHPLC - - LGMD Pat8 PubMed: Hermanova 2005 - F - Czech Republic - >26y - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Hermanova 2005 - - Germline - - - - - DNA DHPLC - - LGMD Pat8 PubMed: Hermanova 2005 - F - Czech Republic - >26y - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Todorova 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Todorova 2007 - F - Bulgaria - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Todorova 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Todorova 2007 - F - Bulgaria - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic (recessive) g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - France - - - - - 1 Amets Sáenz
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic (recessive) g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - France - - - - - 1 Amets Sáenz
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - Germline - - - - - DNA PCR - - LGMD Fam16 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 brother and sister F;M - Croatia (Hrvatska) - - - - - 2 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - Germline - - - - - DNA PCR - - LGMD Fam16 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 brother and sister F;M - Croatia (Hrvatska) - - - - - 2 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Krahn 2006 - - Germline - - - - - DNA DHPLC - - LGMD Pat69 PubMed: Krahn 2006 - F - France - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Krahn 2006 - - Germline - - - - - DNA DHPLC - - LGMD Pat69 PubMed: Krahn 2006 - F - France - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - Germline - - - - - DNA PCR - - LGMD Fam4 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 2 brothers and sister F;M - Croatia (Hrvatska) - - - - - 3 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - Germline - - - - - DNA PCR - - LGMD Fam4 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 2 brothers and sister F;M - Croatia (Hrvatska) - - - - - 3 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Georgieva 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Georgieva 2005 - M - Bulgaria - - - - - 2 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Georgieva 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Georgieva 2005 - M - Bulgaria - - - - - 2 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - Georgieva ESHG2007, P677 - - Germline - - - - - DNA SEQ - - LGMD - Georgieva ESHG2007, P677 - F - Bulgaria - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - Georgieva ESHG2007, P677 - - Germline - - - - - DNA SEQ - - LGMD - Georgieva ESHG2007, P677 - F - Bulgaria - - - - - 1 Johan den Dunnen
?/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - VUS g.42680002del g.42387804del 550delA - CAPN3_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Lab Müller-Reible
?/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - VUS g.42680002del g.42387804del 550delA - CAPN3_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 551delA - CAPN3_000010 - PubMed: Richard 1997, PubMed: Dincer 1997 - - Germline - - - - - DNA HD, SEQ - - LGMD 09150160-T11 PubMed: Richard 1997, PubMed: Dincer 1997 4-generation family, 1 affected F - Turkey - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #2 - pathogenic g.42680002del g.42387804del 551delA - CAPN3_000010 - PubMed: Richard 1997, PubMed: Dincer 1997 - - Germline - - - - - DNA HD, SEQ - - LGMD 09150160-T11 PubMed: Richard 1997, PubMed: Dincer 1997 4-generation family, 1 affected F - Turkey - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.550del p.Thr184Argfs*36 Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Fanin 2004, PubMed: Fanin 2005, PubMed: Nascimbeni 2010, OMIM:var0009 - - Germline - - - - - DNA, RNA DHPLC, RT-PCR, SEQ - - hCK - PubMed: Fanin 2004, PubMed: Fanin 2005, PubMed: Nascimbeni 2010, OMIM:var0009 - F - Italy - - - - - 1 Marina Fanin
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic (recessive) g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA DGGE, SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 3 Ieke Ginjaar
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Todorova 2005, OMIM:var0009 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Todorova 2005, OMIM:var0009 - F - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Piluso 2005 - - Germline - - - - - DNA PCR - - LGMD - PubMed: Piluso 2005 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - Germline - - - - - DNA PCR - - LGMD Fam14 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 cousins - - Croatia (Hrvatska) - - - - - 2 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Todorova 2007 - - Germline - - - - - DNA SEQ - - LGMD Pat12 PubMed: Todorova 2007 - M - Bulgaria - <20y - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Richard 1995 - - Germline - - - - - DNA HD, SEQ, SSCA - - LGMD 07720071-M1394 PubMed: Richard 1995 - - - France - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 551delA - CAPN3_000010 - PubMed: Pollitt 2001 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Pollitt 2001 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Piluso 2005 - - Germline - - - - - DNA PCR - - LGMD - PubMed: Piluso 2005 presymptomatic F - Turkey - - - - - 1 Johan den Dunnen
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic (recessive) g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - France - - - - - 2 Amets Sáenz
+/. 4 c.550del r.(?) p.(Thr184Argfs*36) Parent #1 - pathogenic g.42680002del g.42387804del 550delA - CAPN3_000010 - PubMed: Georgieva 2005, PubMed: Todorova 2007 - - Germline - - - - - DNA SSCA - - SMA - PubMed: Georgieva 2005, PubMed: Todorova 2007 - F - Bulgaria - >10y - - - 1 Johan den Dunnen
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