Full data view for gene CLCN1

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

134 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     
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 66092.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 58907.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - PMC 62736.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - PMC 58418.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - PMC 59265.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - PMC 59265.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - PMC 59317.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - PMC 59317.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 59431.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - PMC 60588.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - PMC 61487.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - PMC 63794.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - PMC 67291.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - PMC 68467.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - PMC 69725.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - PMC 60974.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - PMC 60974.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 51265.5 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 56019.2 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 56019.2 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal dominant (Thomsen disease) 58721.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal dominant (Thomsen disease) 58721.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 58741.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 58741.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 59134.10 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 59134.10 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 59515.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 59515.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) 59606.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) 59606.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 59618.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 59618.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 59872.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 59872.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 60430.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 60979.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 61159.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 61556.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 61910.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 62111.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 62233.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 62280.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 62280.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 62547.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 62547.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 62671.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 62699.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 62699.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 63127.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 63605.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 63851.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 63851.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 63909.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 63909.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 63999.2 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 64246.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 64306.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 64807.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 64807.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 65169.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 65709.2 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 65876.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 65876.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 65940.1 Leiden, unpublished - M - Netherlands - - - - - 2 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 65940.1 Leiden, unpublished - M - Netherlands - - - - - 2 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 65997.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 66107.1 Leiden, unpublished - M - Netherlands - - - - - 3 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 66107.1 Leiden, unpublished - M - Netherlands - - - - - 3 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 66599.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 66599.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 66697.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 66876.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 67014.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 67164.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 67311.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 67403.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 67932.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 68001.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 68001.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 68168.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 68178.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 68243.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 68243.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 68259.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 68259.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 68539.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 68601.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 68601.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 68795.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 68795.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 68796.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Paternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 69278.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Maternal (confirmed) - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 69278.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 69366.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 69412.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 69547.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 69599.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 69632.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - myotonia 69683.1 Leiden, unpublished 2-generation family, affected father/daugther F - Netherlands - - - - - 2 Johan den Dunnen
-/- 12i c.1402-9C>T r.(?) p.(=) Unknown - benign g.143036337C>T g.143339244C>T - - CLCN1_000100 - - - - Germline - - - - - DNA SEQ - - ? 69775.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
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