Full data view for gene CYP4V2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_207352.3 transcript reference sequence.

336 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 19095 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 19221 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 19294 PubMed: Zhang 2018 - - yes China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 19426 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 19450 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 19538 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 19643 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 191002 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28041 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28042 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28044 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28051 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28053 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28060 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28065 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28066 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28069 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28072 PubMed: Zhang 2018 - - yes China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28073 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28074 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28075 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28076 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28077 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28079 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28082 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28084 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28086 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28090 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28093 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28094 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 028095^ PubMed: Zhang 2018 - - yes China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28096 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28098 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28101 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28103 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28104 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28105 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28107 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28109 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28111 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28112 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28114 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28115 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28121 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28122 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28142 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28146 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28148 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28150 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28152 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28159 PubMed: Zhang 2018 - - yes China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28161 PubMed: Zhang 2018 - - yes China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 028164^ PubMed: Zhang 2018 - - yes China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Both (homozygous) ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 45007 PubMed: Zhang 2018 - - yes China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 19296 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28059 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28071 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28089 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28135 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28116 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28145 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28061 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28133 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28153 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 19613 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 19122 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28108 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 19363 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 19528 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28049 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28083 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28087 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28099 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28100 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28102 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28106 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28118 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28127 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28139 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28149 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28151 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28162 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 19286 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 19008 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28067 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28165 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 19482 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28092 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28130 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28052 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28078 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 26054 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 19976 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 19853 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28091 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28097 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28110 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28120 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28129 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.802-8_810 delinsGC r.spl p.(?) - Parent #1 ACMG likely pathogenic g.187122303_187122319delinsGC g.186201149_186201165delinsGC CYP4V2 c.802-8_810 del17insGC, Exon7del - CYP4V2_000001 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28137 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
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