Full data view for gene NPHS2

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

144 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Tsukaguchi et al, 2002 (JCI) - - Germline - - - - - DNA SEQ - - NPHS2 - Tsukaguchi et al, 2002 (JCI) - - - Germany;United Kingdom (Great Britain) - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Tsukaguchi et al, 2002 (JCI) - - Germline - - - - - DNA SEQ - - NPHS2 - Tsukaguchi et al, 2002 (JCI) - - - Czech Republic;United States - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Tsukaguchi et al, 2002 (JCI) - - Germline - - - - - DNA SEQ - - NPHS2 - Tsukaguchi et al, 2002 (JCI) - - - Brazil - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Tsukaguchi et al, 2002 (JCI) - - Germline - - - - - DNA SEQ - - NPHS2 - Tsukaguchi et al, 2002 (JCI) - - - Germany - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Poland - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Poland - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Austria - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Austria - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Both (homozygous) - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Both (homozygous) - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Monteiro et al, 2006 (J Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Monteiro et al, 2006 (J Nephrol) - - - Brazil - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Drozdz et al, 2006 (Przegl Lek) - - Germline - - - - - DNA SEQ - - NPHS2 - Drozdz et al, 2006 (Przegl Lek) - - - Poland - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Drozdz et al, 2006 (Przegl Lek) - - Germline - - - - - DNA SEQ - - NPHS2 - Drozdz et al, 2006 (Przegl Lek) - - - Poland - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - He et al, 2007 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - He et al, 2007 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Voskarides et al, 2008 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Voskarides et al, 2008 (Pediatr Nephrol) - - - Greece;Cyprus - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Tonna et al, 2008 (BMC Nephrology) - - Germline - - - - - DNA SEQ - - NPHS2 - Tonna et al, 2008 (BMC Nephrology) - - - - white - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Tonna et al, 2008 (BMC Nephrology) - - Germline - - - - - DNA SEQ - - NPHS2 - Tonna et al, 2008 (BMC Nephrology) - - - - white - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Tonna et al, 2008 (BMC Nephrology) - - Germline - - - - - DNA SEQ - - NPHS2 - Tonna et al, 2008 (BMC Nephrology) - - - Spain - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Tonna et al, 2008 (BMC Nephrology) - - Germline - - - - - DNA SEQ - - NPHS2 - Tonna et al, 2008 (BMC Nephrology) - - - Spain - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Tonna et al, 2008 (BMC Nephrology) - - Germline - - - - - DNA SEQ - - NPHS2 - Tonna et al, 2008 (BMC Nephrology) - - - - white - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Sharma et al, 2008 (Genomic Med) - - Germline - - - - - DNA SEQ - - NPHS2 - Sharma et al, 2008 (Genomic Med) - - - India - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Megremis et al, 2009 (Genet Test Mol Biomar) - - Germline - - - - - DNA SEQ - - NPHS2 - Megremis et al, 2009 (Genet Test Mol Biomar) - - - Greece - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - European - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - European - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - European - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - European - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - North Africa - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - North Africa - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - North Africa - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - North Africa - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - European - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - European - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - European - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - European - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - European - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - European - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - European - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Machuca et al, 2010 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2010 (JASN) - - - Portugal - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Chernin et al, 2010 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Chernin et al, 2010 (Pediatr Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Unknown - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Buscher et al, 2010 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Buscher et al, 2010 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Unknown - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Buscher et al, 2010 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Buscher et al, 2010 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Buscher et al, 2010 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Buscher et al, 2010 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Buscher et al, 2010 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Buscher et al, 2010 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Buscher et al, 2010 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Buscher et al, 2010 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Buscher et al, 2010 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Buscher et al, 2010 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.686G>A r.(?) p.(Arg229Gln) Parent #1 - pathogenic g.179526214C>T g.179557079C>T - - NPHS2_000077 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.