Full data view for gene CYP1B1

Information The variants shown are described using the NM_000104.3 transcript reference sequence.

132 entries on 2 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     
+/. 2 c.182G>A r.(?) p.Gly61Glu CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T - - CYP1B1_000012 reference haplotype CYP1B1*12 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28936700 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Paternal (confirmed) - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - GLC3A - PubMed: Stoilov 1998 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/3 sibs M no Turkey - - - - - 2 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Both (homozygous) - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - GLC3A - PubMed: Stoilov 1998 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents/brother - no Turkey - - - - - 2 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Paternal (confirmed) - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - GLC3A - PubMed: Stoilov 1998 2-generation family, 2 sisters, unaffected heterozygous carrier parents F yes Turkey - - - - - 2 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - Healthy/Control - - 4-generation mixed family, 3 unaffected carrier parent/brother - yes Turkey - - - - - 4 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - Healthy/Control - - 2-generation family, unaffected carrier father - no Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - Healthy/Control - - 2-generation family, unaffected carrier parents/brother - no Turkey - - - - - 3 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - Healthy/Control - - 2-generation family, unaffected carrier father - yes Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Paternal (confirmed) - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - GLC - - 4-generation mixed family, 2 homozygous affecteds - yes Turkey - - - - - 2 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Maternal (confirmed) - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - GLC - - 4-generation mixed family, 1 heterozygous affected - no Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - pseudo-dominant inheritance - yes Saudi Arabia - - - - - 8 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - pseudo-dominant inheritance - yes Saudi Arabia - - - - - 2 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - pseudo-dominant inheritance - yes Saudi Arabia - - - - - 5 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #1 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Maternal (confirmed) - pathogenic g.38302350C>T g.38075207C>T G528A - CYP1B1_000012 - PubMed: Stoilov 1998, OMIM:var0003 - rs28936700 Germline yes - TaqI+ - - DNA SEQ - - GLC - - 4-generation mixed family, 2 homozygous affecteds - yes Turkey - - - - - 2 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - pseudo-dominant inheritance - yes Saudi Arabia - - - - - 8 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - - - ? Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - pseudo-dominant inheritance - yes Saudi Arabia - - - - - 2 Johan den Dunnen
+/. 2 c.182G>A r.(?) p.(Gly61Glu) CYP1B1*12 Parent #2 - pathogenic g.38302350C>T g.38075207C>T 3987G>A - CYP1B1_000012 - PubMed: Bejjani 1998, OMIM:var0003 - rs28936700 Germline yes - - - - DNA SEQ - - GLC - - pseudo-dominant inheritance - yes Saudi Arabia - - - - - 5 Johan den Dunnen
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic g.38302350C>T g.38075207C>T - - CYP1B1_000012 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - GLC - - - F - - - - - - - 4 Marta de Castro-Miró
+/. - c.182G>A r.(?) p.(Gly61Glu) - Parent #1 - pathogenic g.38302350C>T g.38075207C>T - - CYP1B1_000012 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28936700 Germline - 8/2755 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
?/. - c.182G>A r.(?) p.(Gly61Glu) - Unknown - VUS g.38302350C>T - CYP1B1(NM_000104.3):c.181G>A (p.(Gly61Glu)), CYP1B1(NM_000104.3):c.182G>A (p.G61E, p.R61Q) - CYP1B1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.182G>A r.(?) p.(Gly61Glu) - Unknown - pathogenic g.38302350C>T - CYP1B1(NM_000104.3):c.181G>A (p.(Gly61Glu)), CYP1B1(NM_000104.3):c.182G>A (p.G61E, p.R61Q) - CYP1B1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.182G>A r.(?) p.(Gly61Glu) - Unknown - pathogenic g.38302350C>T - CYP1B1(NM_000104.3):c.181G>A (p.(Gly61Glu)), CYP1B1(NM_000104.3):c.182G>A (p.G61E, p.R61Q) - CYP1B1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease DG08RC00073 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 08DG-00218 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG00425 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG00432 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG00434 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG00692 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG00696 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG00743 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG00913 PubMed: Alsaif 2019 patient - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG00915 PubMed: Alsaif 2019 patient - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG00938 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG00940 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG00941 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01070 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01071 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01112 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Parent #1 - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01113 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01114 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01116 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01117 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01109 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01140 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01141 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01175 PubMed: Alsaif 2019 patient - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01183 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01211 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01212 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01307 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01312 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01314 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 09DG01489 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0110 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0120 PubMed: Alsaif 2019 patient - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0153 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0159 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0233 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0431 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0568 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0679 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0695 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0728 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0731 PubMed: Alsaif 2019 patient - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0785 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0949 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Parent #1 - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0950 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0951 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Parent #1 - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG0977 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Parent #1 - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG1033 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG1259 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Parent #1 - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG1266 PubMed: Alsaif 2019 sporadic - - Saudi Arabia - - - - - 1 LOVD
+/. - c.182G>A r.(?) p.(Gly61Glu) - Both (homozygous) - pathogenic (recessive) g.38302350C>T g.38075207C>T - - CYP1B1_000012 - PubMed: Alsaif 2019 - - Germline - - - - - DNA SEQ - - retinal disease 10DG1269 PubMed: Alsaif 2019 patient - - Saudi Arabia - - - - - 1 LOVD
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