Full data view for gene CLCN1

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

102 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     
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 66092.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - PMC 57527.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - PMC 58141.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - PMC 58417.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - PMC 59317.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - PMC 60588.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - PMC 61487.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - PMC 64559.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - PMC 64559.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - PMC 67291.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - PMC 69725.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - PMC 52152.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - PMC 60974.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal dominant (Thomsen disease) 53605.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 56019.1 Leiden, unpublished - M - Netherlands - - - - - 4 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 56019.1 Leiden, unpublished - M - Netherlands - - - - - 4 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 56019.2 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 57115.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 57116.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 57147.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 57416.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal dominant (Thomsen disease) 57741.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 57751.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) 58032.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) 58032.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal dominant (Thomsen disease) 58721.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 58741.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 58741.5 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 59134.1 Leiden, unpublished - F - Netherlands - - - - - 3 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 59134.10 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 59278.1 Leiden, unpublished - M - Netherlands - - - - - 3 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 59515.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) 59606.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) 59606.2 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 59618.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 59618.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 60771.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 62233.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 62671.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 62887.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 63127.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 63589.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 63589.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 63605.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 63909.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 63999.2 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 64246.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 64992.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 65169.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 65169.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 65327.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 65671.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 65875.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 65940.1 Leiden, unpublished - M - Netherlands - - - - - 2 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 65997.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 65997.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 66599.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 66697.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 66697.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 67014.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 67014.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 67164.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 67251.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 67835.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 67835.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 68001.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 68030.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 68178.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 68178.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 68259.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 68601.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 68725.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 68795.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 69775.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 70713.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 70714.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 72242.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 72242.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 72426.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 72426.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 72780.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 72894.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 73067.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 73304.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 73304.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 73841.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 74316.1 Leiden, unpublished - F - Netherlands - - - - - 2 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Paternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 74336.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Maternal (confirmed) - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 74336.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 74443.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 74656.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 75021.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 75151.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 75386.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 75484.1 Leiden, unpublished - M - Netherlands - - - - - 2 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 75586.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 75945.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? 77132.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 2 c.261C>T r.(?) p.(=) Unknown - benign g.143016928C>T g.143319835C>T Thr87Thr - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - myotonia 77202.1 Leiden, unpublished - M - Netherlands - - - - - 2 Johan den Dunnen
-/? 2 c.261C>T r.(?) p.(Thr87Thr) Unknown - benign g.143016928C>T g.143319835C>T - - CLCN1_000007 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Birgit Neitzel
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