Full data view for gene NPHS2

Information The variants shown are described using the NM_014625.2 transcript reference sequence.

239 entries on 3 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     
+/. 3 c.413G>A r.(?) p.(Arg138Gln) Paternal (confirmed) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 not in 136 control chromosomes PubMed: Boute 2000, OMIM:var0001 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - PubMed: Boute 2000 - ? ? - (Europe) - - - - 1 Johan den Dunnen
+/? 3 c.413G>A r.(?) p.(R138Q) Paternal (confirmed) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 not in 136 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0001 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
+/? 3 c.413G>A r.(?) p.(R138Q) Paternal (confirmed) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 not in 136 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0001 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
+/? 3 c.413G>A r.(?) p.(R138Q) Paternal (confirmed) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 not in 136 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0001 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
+/? 3 c.413G>A r.(?) p.(R138Q) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 not in 136 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0001 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
+/? 3 c.413G>A r.(?) p.(R138Q) Paternal (confirmed) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 not in 136 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0001 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
+/? 3 c.413G>A r.(?) p.(R138Q) Maternal (confirmed) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 not in 136 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0001 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
+/? 3 c.413G>A r.(?) p.(R138Q) Maternal (confirmed) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 not in 136 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0001 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
+/? 3 c.413G>A r.(?) p.(R138Q) Maternal (confirmed) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 not in 136 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0001 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
+/? 3 c.413G>A r.(?) p.(R138Q) Maternal (confirmed) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 not in 136 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0001 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
?/? 3 c.413G>A r.(?) p.(R138Q) Unknown - VUS g.179530462C>T g.179561327C>T - - NPHS2_000006 - - - rs74315342 Germline - - - - - DNA SEQ - - Healthy/Control - - - ? no - - - - - - 1 Johan den Dunnen
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Carraro et al, 2001 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Carraro et al, 2001 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Carraro et al, 2001 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Carraro et al, 2001 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Carraro et al, 2001 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Carraro et al, 2001 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Caridi et al, 2001 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2001 (J Am Soc Nephrol) - - - Italy - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Caridi et al, 2001 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2001 (J Am Soc Nephrol) - - - Italy - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Caridi et al, 2001 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2001 (J Am Soc Nephrol) - - - Italy - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Tsukaguchi et al, 2002 (JCI) - - Germline - - - - - DNA SEQ - - NPHS2 - Tsukaguchi et al, 2002 (JCI) - - - - African American - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Koziell et al, 2002 (Hum Mol Genet) - - Germline - - - - - DNA SEQ - - NPHS2 - Koziell et al, 2002 (Hum Mol Genet) - - - United Kingdom (Great Britain) - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Koziell et al, 2002 (Hum Mol Genet) - - Germline - - - - - DNA SEQ - - NPHS2 - Koziell et al, 2002 (Hum Mol Genet) - - - United Kingdom (Great Britain) - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Unknown - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Unknown - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Hungary - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Hungary - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Netherlands - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Netherlands - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Switzerland - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Switzerland - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Caridi et al, 2003 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2003 (Clin J Am Soc Nephrol) - - - Italy - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Caridi et al, 2003 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2003 (Clin J Am Soc Nephrol) - - - Italy - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Caridi et al, 2003 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2003 (Clin J Am Soc Nephrol) - - - Italy - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Caridi et al, 2003 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2003 (Clin J Am Soc Nephrol) - - - Italy - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Caridi et al, 2003 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2003 (Clin J Am Soc Nephrol) - - - Italy - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Bertelli et al, 2003 (Am J Kid Dis) - - Germline - - - - - DNA SEQ - - NPHS2 - Bertelli et al, 2003 (Am J Kid Dis) - - - Italy - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Bertelli et al, 2003 (Am J Kid Dis) - - Germline - - - - - DNA SEQ - - NPHS2 - Bertelli et al, 2003 (Am J Kid Dis) - - - Italy - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Bertelli et al, 2003 (Am J Kid Dis) - - Germline - - - - - DNA SEQ - - NPHS2 - Bertelli et al, 2003 (Am J Kid Dis) - - - Italy - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Unknown - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Unknown - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Unknown - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Unknown - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Hocker et al, 2006 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Hocker et al, 2006 (Pediatr Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Czech Republic - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Parent #1 - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Czech Republic - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Germany - - - - - 1 Olivier Gribouval
+/? 3 c.413G>A r.(?) p.(Arg138Gln) Both (homozygous) - pathogenic g.179530462C>T g.179561327C>T - - NPHS2_000006 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Germany - - - - - 1 Olivier Gribouval
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