Full data view for gene CLCN1

Information The variants shown are described using the NM_000083.2 transcript reference sequence.

130 entries on 2 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     
-/. 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T P727L - CLCN1_000145 - PubMed: Chen 2013, Journal: Chen 2013 - rs13438232 Unknown - - - - - DNA SEQ, SEQ-NG - - EIG - PubMed: Chen 2013, Journal: Chen 2013 2-generation family, only child of healthy, unrelated parents F no Italy - >26y - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 66092.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 58907.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - PMC 62736.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 56502.4 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 56502.4 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - PMC 58141.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - PMC 58418.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 59431.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - PMC 60588.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - PMC 60779.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - PMC 61487.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - PMC 63794.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - PMC 67291.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - PMC 68467.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - PMC 60974.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - PMC 60974.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 51265.5 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal dominant (Thomsen disease) 53605.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 53615.4 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 53615.4 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 56019.2 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 56019.2 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) 56458.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 56507.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 56516.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 56516.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 56789.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 57115.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 57116.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 57296.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal dominant (Thomsen disease) 57741.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal dominant (Thomsen disease) 57741.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 57751.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 57944.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) 58032.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 58258.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 59134.1 Leiden, unpublished - F - Netherlands - - - - - 3 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 59134.1 Leiden, unpublished - F - Netherlands - - - - - 3 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 59134.10 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 59134.10 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 59278.1 Leiden, unpublished - M - Netherlands - - - - - 3 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 59871.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 59871.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 60430.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 60979.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 61159.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 61556.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 61910.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 62111.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 62233.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 62280.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 62280.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 62547.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 62671.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 62699.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 63127.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 63605.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 63851.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 63909.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 63999.2 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 64246.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 64306.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 64807.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 65169.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 65709.2 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 65876.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 65876.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 65940.1 Leiden, unpublished - M - Netherlands - - - - - 2 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 65997.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 66107.1 Leiden, unpublished - M - Netherlands - - - - - 3 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 66599.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 66599.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 66697.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 66876.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 67014.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 67164.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 67311.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 68001.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 68030.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 68030.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 68168.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 68178.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 68243.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 68539.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 68601.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 68795.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 68795.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 68796.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 69278.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 69366.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 69412.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 69547.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 69599.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 69632.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - myotonia 69683.1 Leiden, unpublished 2-generation family, affected father/daugther F - Netherlands - - - - - 2 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 69775.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Unknown - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 70088.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Paternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 70490.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 18 c.2180C>T r.(?) p.(Pro727Leu) Maternal (confirmed) - benign g.143043240C>T g.143346147C>T - - CLCN1_000145 - - - - Germline - - - - - DNA SEQ - - ? 70490.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
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