Full data view for gene CHRNE

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000080.3 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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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     
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Paternal (inferred) - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - CMS - PubMed: Croxen 1998 adopted - - - - - - - - 1 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Maternal (inferred) - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - CMS - PubMed: Croxen 1998 adopted - - - - - - - - 1 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Paternal (inferred) - pathogenic g.4802187del g.4898892del 1327delG - CHRNE_000018 - - - - Germline - - - - - DNA PCR, SEQ - - CMS - - - M - United States - - - - - 1 Tom Winder
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Maternal (inferred) - pathogenic g.4802187del g.4898892del 1327delG - CHRNE_000018 - - - - Germline - - - - - DNA PCR, SEQ - - CMS - - - M - United States - - - - - 1 Tom Winder
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Paternal (inferred) - pathogenic g.4802187del g.4898892del 1327delG - CHRNE_000018 - - - - Germline - - - - - DNA PCR, SEQ - - CMS - - - F - United States white - - - - 1 Tom Winder
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Maternal (inferred) - pathogenic g.4802187del g.4898892del 1327delG - CHRNE_000018 - - - - Germline - - - - - DNA PCR, SEQ - - CMS - - - F - United States white - - - - 1 Tom Winder
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #2 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Czech Republic - - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 homozygous in 13/43 patients (11 families); gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age F - (Germany) - - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #2 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 homozygous in 13/43 patients (11 families); gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age F - (Germany) - - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 - PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age M - (Germany) - - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #2 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 - PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age M - (Germany) - - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 - PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - - - PubMed: Abicht 1999 - - - (Germany) - - - - - 4 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Hungary gypsy - - - - 4 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #2 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Hungary gypsy - - - - 4 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Macedonia gypsy - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #2 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Macedonia gypsy - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Serbia gypsy - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #2 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Serbia gypsy - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - - Bohemia, gypsy - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #2 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - - Bohemia, gypsy - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Macedonia - - - - - 2 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #2 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Macedonia - - - - - 2 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Turkey - - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #2 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - Turkey - - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - - Kosovo - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #2 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 gypsy founder haplotype PubMed: Abicht 1999 - - Germline - XagI- - - - DNA SEQ - - CMS - PubMed: Abicht 1999 ptosis, weakness bulbar muscles, no worsening with age - - - Kosovo - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #2 - pathogenic g.4802187del g.4898892del 1327delG - CHRNE_000018 - - - - Germline - XagI- - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #2 - pathogenic g.4802187del g.4898892del 1327delG - CHRNE_000018 - - - - Germline - XagI- - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #2 - pathogenic g.4802187del g.4898892del 1327delG - CHRNE_000018 - - - - Germline - XagI- - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #2 - pathogenic g.4802187del g.4898892del 1327delG - CHRNE_000018 - - - - Germline - XagI- - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 12 c.1327del r.1327del p.Glu443Lysfs*64 Paternal (confirmed) - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Middleton 1999, PubMed: Croxen 1998 3-generation family, 4 affecteds - yes Greece gypsy - - - - 4 Johan den Dunnen
+/. 12 c.1327del r.1327del p.Glu443Lysfs*64 Maternal (confirmed) - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Middleton 1999, PubMed: Croxen 1998 3-generation family, 4 affecteds - yes Greece gypsy - - - - 4 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Paternal (confirmed) - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - CMS - PubMed: Middleton 1999, PubMed: Croxen 1998 2-generation family, 3 affecteds - - Turkey - - - - - 3 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Maternal (confirmed) - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - CMS - PubMed: Middleton 1999, PubMed: Croxen 1998 2-generation family, 3 affecteds - - Turkey - - - - - 3 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Paternal (confirmed) - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - CMS - PubMed: Middleton 1999, PubMed: Croxen 1998 2-generation family, 2 affected brothers M - Greece gypsy - - - - 2 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Maternal (confirmed) - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - CMS - PubMed: Middleton 1999, PubMed: Croxen 1998 2-generation family, 2 affected brothers M - Greece gypsy - - - - 2 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Paternal (confirmed) - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - CMS - PubMed: Middleton 1999, PubMed: Croxen 1998 3-generation family, 4 affecteds - yes Greece gypsy - - - - 4 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Maternal (confirmed) - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - CMS - PubMed: Middleton 1999, PubMed: Croxen 1998 3-generation family, 4 affecteds - yes Greece gypsy - - - - 4 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Paternal (confirmed) - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - CMS - PubMed: Middleton 1999, PubMed: Croxen 1998 4-generation family, 4 affecteds - yes - - - - - - 4 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Maternal (confirmed) - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - CMS - PubMed: Middleton 1999, PubMed: Croxen 1998 4-generation family, 4 affecteds - yes - - - - - - 4 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - - - PubMed: Croxen 1998 adopted - - - - - - - - 1 Johan den Dunnen
+/. 12 c.1327del r.1327del p.Glu443Lysfs*64 Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA, RNA RT-PCR, SEQ, SSCA - - - - PubMed: Middleton 1999, PubMed: Croxen 1998 3-generation family, 7 unaffected carriers - yes Greece gypsy - - - - 7 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - - - PubMed: Middleton 1999, PubMed: Croxen 1998 2-generation family, unaffected carrier parents/brother - - Turkey - - - - - 3 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - - - PubMed: Middleton 1999, PubMed: Croxen 1998 2-generation family, unaffected carrier parents - - Greece gypsy - - - - 2 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - - - PubMed: Middleton 1999, PubMed: Croxen 1998 3-generation family, unaffected carrier parents/relatives - yes Greece gypsy - - - - 8 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443Lysfs*64) Parent #1 - pathogenic g.4802187del g.4898892del 1267delG - CHRNE_000018 not in 120 control chromosomes PubMed: Middleton 1999, PubMed: Croxen 1998 - - Germline - - EcoNI - - DNA SEQ - - - - PubMed: Middleton 1999, PubMed: Croxen 1998 4-generation family, unaffected carrier parents/relatives - yes - - - - - - 7 Johan den Dunnen
+/. - c.1327del r.spl? p.Glu443Lysfs*64 Unknown ACMG pathogenic g.4802187del g.4898892del - - CHRNE_000018 ACMG grading: PM2,PVS1,PP1; no second variant detected in CHRNE; LoF variants are AR.; reported in Croxen 1999. Ann Neurol 46: 639; Morar 2004. Am J Hum Genet 75: 596; Natera-de Benito 2016. Neuromuscul Disord 26: 789 - - rs763258280 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.1327del r.spl? p.Glu443Lysfs*64 Both (homozygous) ACMG pathogenic g.4802187del g.4898892del - - CHRNE_000018 ACMG grading: PM2,PP5,PP1,PVS1; aka 1267delG; reported in Croxen 1998. Ann N Y Acad Sci 13: 195; Croxen 1999. Ann Neurol 46: 639; Natera-de Benito 2016. Neuromuscul Dis 26: 789-95 - - rs763258280 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
+/. - c.1327del r.spl? p.(Glu443Lysfs*64) Both (homozygous) ACMG pathogenic g.4802187del g.4898892del - - CHRNE_000018 ACMG grading: PVS1, PM2, PP1; variant reported in Croxen 1998. Ann N Y Acad Sci 13: 195; Croxen 1999. Ann Neurol 46: 639; Natera-de Benito 2016. Neuromuscul Dis 26: 789-95; Abicht 1999. Neurology 53: 1564-9 - - rs763258280 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. - c.1327del r.spl? p.(Glu443Lysfs*64) Both (homozygous) ACMG pathogenic g.4802187del g.4898892del - - CHRNE_000018 ACMG grading: PVS1,PM2,PP1; Croxen et al. 1998. Ann N Y Acad Sci 13: 195; Croxen et al. 1999. Ann Neurol 46: 639; Natera-de Benito et al. 2016. Neuromuscul Dis 26: 789-95; Abicht et al. 1999. Neurology 53: 1564-9 - - rs763258280 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.1327del r.(?) p.(Glu443LysfsTer64) Unknown - pathogenic g.4802187del - CHRNE(NM_000080.4):c.1327delG (p.E443Kfs*64) - CHRNE_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1327del r.spl? p.(Glu443LysfsTer64) Both (homozygous) - pathogenic g.4802187del g.4898892del - - CHRNE_000018 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1157 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443LysfsTer64) Both (homozygous) - pathogenic g.4802187del g.4898892del - - CHRNE_000018 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1632 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 12 c.1327del r.spl? p.(Glu443LysfsTer64) Both (homozygous) - pathogenic g.4802187del g.4898892del - - CHRNE_000018 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-705 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.1327del r.spl? p.(Glu443Lysfs*64) Both (homozygous) ACMG pathogenic g.4802187del g.4898892del - - CHRNE_000018 - - - - Germline - - - - - DNA SEQ - - CMS4C 2 - - M - - - - - - - 1 Martin Krenn
+/. - c.1327del r.spl? p.(Glu443Lysfs*64) Both (homozygous) ACMG pathogenic g.4802187del g.4898892del - - CHRNE_000018 - - - - Germline - - - - - DNA SEQ - - CMS4C 5 - - F - - - - - - - 1 Martin Krenn
+/. - c.1327del r.spl? p.(Glu443Lysfs*64) Both (homozygous) ACMG pathogenic g.4802187del g.4898892del - - CHRNE_000018 - - - - Germline - - - - - DNA SEQ - - CMS4C 6 - - F - - - - - - - 1 Martin Krenn
+/. - c.1327del r.spl? p.(Glu443Lysfs*64) Both (homozygous) ACMG pathogenic g.4802187del g.4898892del - - CHRNE_000018 - - - - Germline - - - - - DNA SEQ - - CMS4C 9 - - F - - - - - - - 1 Martin Krenn
+/. - c.1327del r.spl? p.(Glu443Lysfs*64) Both (homozygous) ACMG pathogenic g.4802187del g.4898892del - - CHRNE_000018 - - - - Germline - - - - - DNA SEQ - - CMS4C 10 - - F - - - - - - - 1 Martin Krenn
+/. - c.1327del r.spl? p.(Glu443Lysfs*64) Both (homozygous) ACMG pathogenic g.4802187del g.4898892del - - CHRNE_000018 - - - - Germline - - - - - DNA SEQ - - CMS4C 13 - - F - - - - - - - 1 Martin Krenn
+/. - c.1327del r.spl? p.(Glu443Lysfs*64) Both (homozygous) ACMG pathogenic g.4802187del g.4898892del - - CHRNE_000018 - - - - Germline - - - - - DNA SEQ - - CMS4C 14 - - F - - - - - - - 1 Martin Krenn
+/. - c.1327del r.spl? p.(Glu443Lysfs*64) Both (homozygous) ACMG pathogenic g.4802187del g.4898892del - - CHRNE_000018 - - - - Germline - - - - - DNA SEQ - - CMS4C 16 - - M - - - - - - - 1 Martin Krenn
+/. - c.1327del r.spl? p.(Glu443Lysfs*64) Both (homozygous) ACMG pathogenic g.4802187del g.4898892del - - CHRNE_000018 - - - - Germline - - - - - DNA SEQ - - CMS4C 19 - - M - - - - - - - 1 Martin Krenn
+/. - c.1327del r.spl? p.(Glu443Lysfs*64) Both (homozygous) ACMG pathogenic g.4802187del g.4898892del - - CHRNE_000018 - - - - Germline - - - - - DNA SEQ - - CMS4C 19 - - M - - - - - - - 1 Martin Krenn
+/. - c.1327del r.(?) p.(Glu443LysfsTer64) Unknown - pathogenic g.4802187del - CHRNE(NM_000080.4):c.1327delG (p.E443Kfs*64) - CHRNE_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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