Full data view for gene RFC1

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     

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     
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam5a-2 PubMed: Cortese 2019 - F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam5b-2 PubMed: Cortese 2019 - M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s2 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s9 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s12 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam5a-2 PubMed: Cortese 2019 - F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s1 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s2 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s5 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s6 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s7 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s12 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1080)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(1080)] g.39348423_39348479AAGGG[(1080)] - - RFC1_000005 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam3-2 PubMed: Cortese 2019 - F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1100)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(1100)] g.39348423_39348479AAGGG[(1100)] - - RFC1_000013 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s11 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1100)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(1100)] g.39348423_39348479AAGGG[(1100)] - - RFC1_000013 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s15 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1100)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1100)] g.39348423_39348479AAGGG[(1100)] - - RFC1_000013 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam11-2 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1100)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1100)] g.39348423_39348479AAGGG[(1100)] - - RFC1_000013 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s9 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1100)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1100)] g.39348423_39348479AAGGG[(1100)] - - RFC1_000013 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s15 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1100)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1100)] g.39348423_39348479AAGGG[(1100)] - - RFC1_000013 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s16 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1150)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(1150)] g.39348423_39348479AAGGG[(1150)] - - RFC1_000012 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s10 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam2-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam2-2 PubMed: Cortese 2019 - F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam7-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam2-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam2-2 PubMed: Cortese 2019 - F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam7-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam9-2 PubMed: Cortese 2019 - F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s14 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1280)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1280)] g.39348423_39348479AAGGG[(1280)] - - RFC1_000018 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam1-3 PubMed: Cortese 2019 - M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1300)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1300)] g.39348423_39348479AAGGG[(1300)] - - RFC1_000021 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s8 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1400)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(1400)] g.39348423_39348479AAGGG[(1400)] - - RFC1_000008 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam8-3 PubMed: Cortese 2019 - F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1480)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1480)] g.39348423_39348479AAGGG[(1480)] - - RFC1_000017 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam1-1 PubMed: Cortese 2019 2-generation family, 3 affected (3M), unaffected heterozygous carrier parents M - - - - 0 - - 3 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1480)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1480)] g.39348423_39348479AAGGG[(1480)] - - RFC1_000017 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam1-2 PubMed: Cortese 2019 - M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1480)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1480)] g.39348423_39348479AAGGG[(1480)] - - RFC1_000017 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam3-2 PubMed: Cortese 2019 - F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1480)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1480)] g.39348423_39348479AAGGG[(1480)] - - RFC1_000017 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam9-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1800)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1800)] g.39348423_39348479AAGGG[(1800)] - - RFC1_000019 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam4-2 PubMed: Cortese 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1800)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1800)] g.39348423_39348479AAGGG[(1800)] - - RFC1_000019 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam8-3 PubMed: Cortese 2019 - F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1800)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(1800)] g.39348423_39348479AAGGG[(1800)] - - RFC1_000019 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s11 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(2000)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(2000)] g.39348423_39348479AAGGG[(2000)] - - RFC1_000020 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam5b-2 PubMed: Cortese 2019 - M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(400)] g.39348423_39348479AAGGG[(400)] - - RFC1_000009 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam10-2 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam3-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam5a-1 PubMed: Cortese 2019 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents M - - - - 0 - - 3 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam7-2 PubMed: Cortese 2019 - M yes - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam8-2 PubMed: Cortese 2019 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam10-1 PubMed: Cortese 2019 - M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia S17 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia S18 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia S19 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s20 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s21 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s22 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s23 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s24 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s25 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s26 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s27 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s28 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s29 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s30 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s31 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s32 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s33 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
-?/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Unknown - benign g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - 4/608 chromosomes - 0 - DNA PCR, SEQ, Southern - - Healthy/Control control PubMed: Cortese 2019 analysis 608 normal chromosome F;M - - - - 0 - - 4 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS1 PubMed: Rafehi 2019 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - - Europe - 0 - - 2 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS2 PubMed: Rafehi 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - Europe - 0 - - 2 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS3 PubMed: Rafehi 2019 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - Cyprus Greece - 0 - - 2 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS4 PubMed: Rafehi 2019 2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents F;M - - - - 0 - - 4 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS5 PubMed: Rafehi 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Lithuania;Latvia - - 0 - - 2 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS6 PubMed: Rafehi 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - Europe - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS7 PubMed: Rafehi 2019 - M - Australia Europe; Maori - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS8 PubMed: Rafehi 2019 - F - - Europe - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS9 PubMed: Rafehi 2019 2-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents F;M - Lebanon - - 0 - - 4 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS10 PubMed: Rafehi 2019 - M - - Europe - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS12 PubMed: Rafehi 2019 - M - Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS14 PubMed: Rafehi 2019 - M - - Europe - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS16 PubMed: Rafehi 2019 - F - - Europe - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS18 PubMed: Rafehi 2019 - F - Australia Europe; Maori - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS20 PubMed: Rafehi 2019 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Spain - - 0 - - 2 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS21 PubMed: Rafehi 2019 - M - India - - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS22 PubMed: Rafehi 2019 - M - Hungary - - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS23 PubMed: Rafehi 2019 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(600)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(600)] g.39348423_39348479AAGGG[(600)] - - RFC1_000007 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam6a-1 PubMed: Cortese 2019 3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F - - - - 0 - - 3 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(600)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(600)] g.39348423_39348479AAGGG[(600)] - - RFC1_000007 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam6a-2 PubMed: Cortese 2019 - F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(600)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(600)] g.39348423_39348479AAGGG[(600)] - - RFC1_000007 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam9-2 PubMed: Cortese 2019 - F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(700)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(700)] g.39348423_39348479AAGGG[(700)] - - RFC1_000011 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s3 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(700)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(700)] g.39348423_39348479AAGGG[(700)] - - RFC1_000011 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s8 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(700)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(700)] g.39348423_39348479AAGGG[(700)] - - RFC1_000011 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam6a-1 PubMed: Cortese 2019 3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F - - - - 0 - - 3 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(700)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(700)] g.39348423_39348479AAGGG[(700)] - - RFC1_000011 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam6a-2 PubMed: Cortese 2019 - F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(700)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(700)] g.39348423_39348479AAGGG[(700)] - - RFC1_000011 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s3 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(800)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(800)] g.39348423_39348479AAGGG[(800)] - - RFC1_000010 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s1 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(800)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(800)] g.39348423_39348479AAGGG[(800)] - - RFC1_000010 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s7 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(800)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(800)] g.39348423_39348479AAGGG[(800)] - - RFC1_000010 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s13 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(800)] r.(=) p.(=) Parent #2 - pathogenic (recessive) g.39350043_39350099AAGGG[(800)] g.39348423_39348479AAGGG[(800)] - - RFC1_000010 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam10-2 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam1-1 PubMed: Cortese 2019 2-generation family, 3 affected (3M), unaffected heterozygous carrier parents M - - - - 0 - - 3 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam1-2 PubMed: Cortese 2019 - M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam1-3 PubMed: Cortese 2019 - M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam4-2 PubMed: Cortese 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam6b-1 PubMed: Cortese 2019 - M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam9-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam11-2 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - - - - 0 - - 2 Johan den Dunnen
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