Full data view for gene PEX1

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000466.2 transcript reference sequence.

163 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     
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic g.92132486dup g.92503172dup 2097dupT - PEX1_000002 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - HMLR1 Fam2Pat1 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no United States - >31y - - - 2 Jamie Zeegers
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic g.92132486dup g.92503172dup - - PEX1_000002 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - HMLR1 Fam2PatII2 PubMed: Ratbi 2015, Journal: Ratbi 2015 - F no United States - >29y - - - 1 Jamie Zeegers
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic g.92132486dup g.92503172dup - - PEX1_000002 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline - - - - - DNA arraySEQ, SEQ, SEQ-NG - - HMLR1 Fam4PatII1 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - >24y - - - 1 Jamie Zeegers
+/. 13 c.2097dup r.(?) p.Ile700Tyrfs*42 Unknown - NA g.92132486dup g.92503172dup - - PEX1_000002 cDNA expression cloning in PEX1 defective fibroblatst showed no complementation (0.00) PubMed: Ratbi 2015, Journal: Ratbi 2015 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2097dup r.(?) p.(Ile700TyrfsTer42) Unknown - pathogenic g.92132486dup g.92503172dup PEX1(NM_000466.3):c.2097dup (p.(Ile700TyrfsTer42)), PEX1(NM_000466.3):c.2097dupT (p.I700Yfs*42), PEX1(NM_001282678.1):c.1473dupT (p.I492Yfs*42), PE... - PEX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2097dup r.(?) p.(Ile700TyrfsTer42) Unknown - pathogenic g.92132486dup g.92503172dup PEX1(NM_000466.3):c.2097dup (p.(Ile700TyrfsTer42)), PEX1(NM_000466.3):c.2097dupT (p.I700Yfs*42), PEX1(NM_001282678.1):c.1473dupT (p.I492Yfs*42), PE... - PEX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2097dup r.(?) p.(Ile700TyrfsTer42) Unknown - pathogenic g.92132486dup g.92503172dup PEX1(NM_000466.3):c.2097dup (p.(Ile700TyrfsTer42)), PEX1(NM_000466.3):c.2097dupT (p.I700Yfs*42), PEX1(NM_001282678.1):c.1473dupT (p.I492Yfs*42), PE... - PEX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2097dup r.(?) p.(Ile700TyrfsTer42) Unknown - pathogenic g.92132486dup g.92503172dup PEX1(NM_000466.3):c.2097dup (p.(Ile700TyrfsTer42)), PEX1(NM_000466.3):c.2097dupT (p.I700Yfs*42), PEX1(NM_001282678.1):c.1473dupT (p.I492Yfs*42), PE... - PEX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2097dup r.(?) p.(Ile700TyrfsTer42) Unknown - pathogenic g.92132486dup g.92503172dup PEX1(NM_000466.3):c.2097dup (p.(Ile700TyrfsTer42)), PEX1(NM_000466.3):c.2097dupT (p.I700Yfs*42), PEX1(NM_001282678.1):c.1473dupT (p.I492Yfs*42), PE... - PEX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic g.92132486dup g.92503172dup - - PEX1_000002 - MORL Deafness Variation Database, , PubMed: Bean 2013, PubMed: Heimler 1991, PubMed: Gärtner 1992, PubMed: Steinberg 2006 - - Germline - - - - - DNA ? - - PBD - , PubMed: Bean 2013, PubMed: Heimler 1991, PubMed: Gärtner 1992, PubMed: Steinberg 2006, PubMed: Ratbi 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Collins 1999 - - Germline - - - - - DNA ASO - - PBD PBD045 PubMed: Collins 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 1999 - - Germline - - - - - DNA ASO - - PBD Pat3822 PubMed: Maxwell 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat4307 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat5162 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat4936 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat15 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat1899 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Both (homozygous) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Collins 1999 - - Germline - - - - - DNA ASO - - PBD PBD036 PubMed: Collins 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Both (homozygous) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Collins 1999 - - Germline - - - - - DNA ASO - - PBD PBD184 PubMed: Collins 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Both (homozygous) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Collins 1999 - - Germline - - - - - DNA ASO - - PBD PBD186 PubMed: Collins 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Both (homozygous) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Collins 1999 - - Germline - - - - - DNA ASO - - PBD PBD193 PubMed: Collins 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Both (homozygous) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat4065 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Both (homozygous) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Preuss 2002 - - Germline - - - - - DNA SEQ - - PBD PatG003 PubMed: Preuss 2002 - - - Germany - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Preuss 2002 - - Germline - - - - - DNA SEQ - - PBD PatG011 PubMed: Preuss 2002 - - - Germany - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Both (homozygous) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Walter 2001 - - Germline - - - - - DNA SEQ - - PBD Pat17 PubMed: Walter 2001 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Both (homozygous) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Walter 2001 - - Germline - - - - - DNA SEQ - - PBD Pat19 PubMed: Walter 2001 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Both (homozygous) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Walter 2001 - - Germline - - - - - DNA SEQ - - PBD Pat23 PubMed: Walter 2001 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Both (homozygous) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Both (homozygous) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Both (homozygous) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Both (homozygous) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Collins 1999 - - Germline - - - - - DNA ASO - - PBD PBD027 PubMed: Collins 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 previously described as homozygous G843D PubMed: Collins 1999 - - Germline - - - - - DNA ASO - - PBD PBD167 PubMed: Collins 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Collins 1999 - - Germline - - - - - DNA ASO - - PBD PBD175 PubMed: Collins 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Collins 1999 - - Germline - - - - - DNA ASO - - PBD PBD191 PubMed: Collins 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Collins 1999 - - Germline - - - - - DNA ASO - - PBD PBD194 PubMed: Collins 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Collins 1999 - - Germline - - - - - DNA ASO - - PBD PBD195 PubMed: Collins 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 1999 - - Germline - - - - - DNA ASO - - PBD Pat4756 PubMed: Maxwell 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 1999 - - Germline - - - - - DNA ASO - - PBD Pat3488 PubMed: Maxwell 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 1999 - - Germline - - - - - DNA ASO - - PBD Pat2777 PubMed: Maxwell 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat5203 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat4442 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat5291 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat4824 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat4397 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat3611 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Paternal (confirmed) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Preuss 2002 - - Germline - - - - - DNA SEQ - - PBD PatG005 PubMed: Preuss 2002 - - - Germany - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Walter 2001 - - Germline - - - - - DNA SEQ - - PBD Pat10 PubMed: Walter 2001 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Walter 2001 - - Germline - - - - - DNA SEQ - - PBD Pat13 PubMed: Walter 2001 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Walter 2001 - - Germline - - - - - DNA SEQ - - PBD Pat20 PubMed: Walter 2001 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Walter 2001 - - Germline - - - - - DNA SEQ - - PBD Pat28 PubMed: Walter 2001 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Walter 2001 - - Germline - - - - - DNA SEQ - - PBD Pat30 PubMed: Walter 2001 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat3466 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat3837 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat3365 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat3264 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Steinberg 2004 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2002 - - Germline - - - - - DNA SEQ - - PBD Pat4035 PubMed: Maxwell 2002 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Walter 2001 - - Germline - - - - - DNA SEQ - - PBD Pat16 PubMed: Walter 2001 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Preuss 2002 - - Germline - - - - - DNA SEQ - - PBD PatG007 PubMed: Preuss 2002 - - - Germany - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Preuss 2002 - - Germline - - - - - DNA SEQ - - PBD PatG002 PubMed: Preuss 2002 - - - Germany - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Walter 2001 - - Germline - - - - - DNA SEQ - - PBD Pat6 PubMed: Walter 2001 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Collins 1999 - - Germline - - - - - DNA ASO - - PBD PBD002 PubMed: Collins 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Collins 1999 - - Germline - - - - - DNA ASO - - PBD PBD009 PubMed: Reuber 1997, PubMed: Collins 1999 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Preuss 2002 - - Germline - - - - - DNA SEQ - - PBD PatG013 PubMed: Preuss 2002 - - - Germany - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #2 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Maxwell 2005 - - Germline - - - - - DNA SEQ - - PBD Pat3822 PubMed: Maxwell 2005 - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #2 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Both (homozygous) - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Yik 2009 - - Germline - - - - - DNA SEQ - - PBD Pat602 PubMed: Yik 2009 - - - United States - - - - - 1 Johan den Dunnen
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Yik 2009 - - Germline - - - - - DNA SEQ - - PBD Pat601 PubMed: Yik 2009 - - - United States - - - - - 1 Johan den Dunnen
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Yik 2009 - - Germline - - - - - DNA SEQ - - PBD Pat660 PubMed: Yik 2009 - - - United States - - - - - 1 Johan den Dunnen
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Yik 2009 - - Germline - - - - - DNA SEQ - - PBD Pat712 PubMed: Yik 2009 - - - United States - - - - - 1 Johan den Dunnen
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Yik 2009 - - Germline - - - - - DNA SEQ - - PBD Pat608 PubMed: Yik 2009 - - - United States - - - - - 1 Johan den Dunnen
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Yik 2009 - - Germline - - - - - DNA SEQ - - PBD Pat646 PubMed: Yik 2009 - - - United States - - - - - 1 Johan den Dunnen
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Yik 2009 - - Germline - - - - - DNA SEQ - - PBD Pat671 PubMed: Yik 2009 - - - United States - - - - - 1 Johan den Dunnen
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #1 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Yik 2009 - - Germline - - - - - DNA SEQ - - PBD Pat702 PubMed: Yik 2009 - - - United States - - - - - 1 Johan den Dunnen
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #2 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Yik 2009 - - Germline - - - - - DNA SEQ - - PBD Pat662 PubMed: Yik 2009 - - - United States - - - - - 1 Johan den Dunnen
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #2 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Yik 2009 - - Germline - - - - - DNA SEQ - - PBD Pat611 PubMed: Yik 2009 - - - United States - - - - - 1 Johan den Dunnen
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #2 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Yik 2009 - - Germline - - - - - DNA SEQ - - PBD Pat649 PubMed: Yik 2009 - - - United States - - - - - 1 Johan den Dunnen
+/. 13 c.2097dup r.(?) p.(Ile700Tyrfs*42) Parent #2 - pathogenic (recessive) g.92132486dup g.92503172dup 2097_2098insT - PEX1_000002 - PubMed: Yik 2009 - - Germline - - - - - DNA SEQ - - PBD Pat610 PubMed: Yik 2009 - - - United States - - - - - 1 Johan den Dunnen
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