All variants in the RFC1 gene

Information The variants shown are described using the NM_002913.4 transcript reference sequence.

120 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1080)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1080)] g.39348423_39348479AAGGG[(1080)] - - RFC1_000005 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1100)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1100)] g.39348423_39348479AAGGG[(1100)] - - RFC1_000013 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1100)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1100)] g.39348423_39348479AAGGG[(1100)] - - RFC1_000013 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1100)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1100)] g.39348423_39348479AAGGG[(1100)] - - RFC1_000013 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1100)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1100)] g.39348423_39348479AAGGG[(1100)] - - RFC1_000013 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1100)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1100)] g.39348423_39348479AAGGG[(1100)] - - RFC1_000013 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1100)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1100)] g.39348423_39348479AAGGG[(1100)] - - RFC1_000013 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1150)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1150)] g.39348423_39348479AAGGG[(1150)] - - RFC1_000012 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1280)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1280)] g.39348423_39348479AAGGG[(1280)] - - RFC1_000018 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1300)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1300)] g.39348423_39348479AAGGG[(1300)] - - RFC1_000021 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1400)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1400)] g.39348423_39348479AAGGG[(1400)] - - RFC1_000008 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1480)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1480)] g.39348423_39348479AAGGG[(1480)] - - RFC1_000017 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1480)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1480)] g.39348423_39348479AAGGG[(1480)] - - RFC1_000017 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1480)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1480)] g.39348423_39348479AAGGG[(1480)] - - RFC1_000017 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1480)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1480)] g.39348423_39348479AAGGG[(1480)] - - RFC1_000017 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1800)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1800)] g.39348423_39348479AAGGG[(1800)] - - RFC1_000019 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1800)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1800)] g.39348423_39348479AAGGG[(1800)] - - RFC1_000019 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1800)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1800)] g.39348423_39348479AAGGG[(1800)] - - RFC1_000019 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(2000)] g.39348423_39348479AAGGG[(2000)] - - RFC1_000020 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400)] g.39348423_39348479AAGGG[(400)] - - RFC1_000009 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
-?/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - benign g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - 4/608 chromosomes - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(600)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(600)] g.39348423_39348479AAGGG[(600)] - - RFC1_000007 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(600)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(600)] g.39348423_39348479AAGGG[(600)] - - RFC1_000007 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(600)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(600)] g.39348423_39348479AAGGG[(600)] - - RFC1_000007 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(700)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(700)] g.39348423_39348479AAGGG[(700)] - - RFC1_000011 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(700)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(700)] g.39348423_39348479AAGGG[(700)] - - RFC1_000011 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(700)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(700)] g.39348423_39348479AAGGG[(700)] - - RFC1_000011 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(700)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(700)] g.39348423_39348479AAGGG[(700)] - - RFC1_000011 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(700)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(700)] g.39348423_39348479AAGGG[(700)] - - RFC1_000011 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(800)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(800)] g.39348423_39348479AAGGG[(800)] - - RFC1_000010 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(800)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(800)] g.39348423_39348479AAGGG[(800)] - - RFC1_000010 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(800)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(800)] g.39348423_39348479AAGGG[(800)] - - RFC1_000010 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(800)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(800)] g.39348423_39348479AAGGG[(800)] - - RFC1_000010 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
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