All variants in the FANCA gene

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000135.2 transcript reference sequence.

1935 entries on 20 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     
+/+ _1_43_ c.-4617_*580del r.0? p.0? FA - pathogenic (recessive) g.88331930_88415141del g.88298324_88381535del g.88331930_88415141del83212 - FANCA_000693 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_3i c.-4157_284-1315del r.0? p.0? FA - pathogenic (recessive) g.88430997_88439383del - g.88406326_88414712del8387 - FANCA_000653 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_37i c.-3552_3765+261del r.0? p.0? FA - pathogenic (recessive) g.88336484_88414112del g.88302878_88380506del g.88336484_88414112del77629 - FANCA_000695 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. _1_1i c.(?_-42)_(79+1_80-1)del r.0? p.0? FA - pathogenic (recessive) g.(89882395_89882944)_(89883065_?)del g.(89815987_89816536)_(89816657_?)del - - FANCA_000010 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_2i c.(?_-42)_(189+1_190-1)del r.0? p.0? FA - pathogenic (recessive) g.(89881022_89882284)_(89883065_?)del g.(89814614_89815876)_(89816657_?)del g.88409549_88411749del2201 - FANCA_000654 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. _1_3i c.(?_-42)_(283+1_284-1)del r.0? p.0? FA - pathogenic (recessive) g.(89877480_89880927)_(89883065_?)del g.(89811072_89814519)_(89816657_?)del - - FANCA_000026 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_3i c.(?_-42)_(283+1_284-1)del r.0? p.0? FA - pathogenic (recessive) g.(89877480_89880927)_(89883065_?)del g.(89811072_89814519)_(89816657_?)del - - FANCA_000026 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_5i c.(?_-42)_523-828del r.0? p.0? FA - pathogenic (recessive) g.89875603_89883065del - g.88403104_88418467del15364 - FANCA_000651 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_5i c.(?_-42)_523-818del r.0? p.0? FA - pathogenic (recessive) g.89875593_89883065del - g.88403094_88418774del15681 - FANCA_000650 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_5i c.(?_-42)_523-818del r.0? p.0? FA - pathogenic (recessive) g.89875593_89883065del - g.88403094_88418774del15681 - FANCA_000650 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_5i c.(?_-42)_523-663del r.0? p.0? FA - pathogenic (recessive) g.89875438_89883065del - g.88402939_88435730del32792 - FANCA_000718 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. _1_5i c.(?_-42)_(522+1_523-1)del r.0? p.0? FA - pathogenic (recessive) g.(89874776_89877114)_(89883065_?)del g.(89808368_89810706)_(89816657_?)del - - FANCA_000007 - PubMed: Morgan 1999 - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_5i c.(?_-42)_(522+1_523-1)del r.0? p.0? FA - pathogenic (recessive) g.(89874776_89877114)_(89883065_?)del g.(89808368_89810706)_(89816657_?)del - - FANCA_000007 - PubMed: Morgan 1999 - - Germline ? - - 0 - Sue Richards
+/. _1_5i c.(?_-42)_(522+1_523-1)del r.0? p.0? FA - pathogenic (recessive) g.(89874776_89877114)_(89883065_?)del g.(89808368_89810706)_(89816657_?)del - - FANCA_000007 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_5i c.(?_-42)_(522+1_523-1)del r.0? p.0? FA - pathogenic (recessive) g.(89874776_89877114)_(89883065_?)del g.(89808368_89810706)_(89816657_?)del - - FANCA_000007 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_5i c.(?_-42)_(522+1_523-1)del r.0? p.0? FA - pathogenic (recessive) g.(89874776_89877114)_(89883065_?)del g.(89808368_89810706)_(89816657_?)del - - FANCA_000007 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_5i c.(?_-42)_(522+1_523-1)del r.0? p.0? FA - pathogenic (recessive) g.(89874776_89877114)_(89883065_?)del g.(89808368_89810706)_(89816657_?)del g.88403999_88437249del33251 - FANCA_000007 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_596+540del r.0? p.0? FA - pathogenic (recessive) g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_596+540del r.0? p.0? FA - pathogenic (recessive) g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_596+540del r.0? p.0? FA - pathogenic (recessive) g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_596+540del r.0? p.0? FA - pathogenic (recessive) g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_596+540del r.0? p.0? FA - pathogenic (recessive) g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_597-800del r.0? p.0? FA - pathogenic (recessive) g.89872600_89883065del - g.88400101_88419559del19459 - FANCA_000713 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. _1_6i c.(?_-42)_(596+1_597-1)del r.0? p.0? FA - pathogenic (recessive) g.(89871801_89874701)_(89883065_?)del g.(89805393_89808293)_(89816657_?)del - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_6i c.(?_-42)_(596+1_597-1)del r.0? p.0? FA - pathogenic (recessive) g.(89871801_89874701)_(89883065_?)del g.(89805393_89808293)_(89816657_?)del - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_6i c.(?_-42)_(596+1_597-1)del r.0? p.0? FA - pathogenic (recessive) g.(89871801_89874701)_(89883065_?)del g.(89805393_89808293)_(89816657_?)del - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_6i c.(?_-42)_(596+1_597-1)del r.0? p.0? FA - pathogenic (recessive) g.(89871801_89874701)_(89883065_?)del g.(89805393_89808293)_(89816657_?)del - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_6i c.(?_-42)_(596+1_597-1)del r.0? p.0? FA - pathogenic (recessive) g.(89871801_89874701)_(89883065_?)del g.(89805393_89808293)_(89816657_?)del - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_6i c.(?_-42)_(596+1_597-1)del r.0? p.0? FA - pathogenic (recessive) g.(89871801_89874701)_(89883065_?)del g.(89805393_89808293)_(89816657_?)del - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_6i c.(?_-42)_(596+1_597-1)del r.0? p.0? FA - pathogenic (recessive) g.(89871801_89874701)_(89883065_?)del g.(89805393_89808293)_(89816657_?)del - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_(596+1_597-1)del r.0? p.0? FA - pathogenic (recessive) g.(89871801_89874701)_(89883065_?)del g.(89805393_89808293)_(89816657_?)del - - FANCA_000009 - - - - Germline ? - - 0 - Sue Richards
+/. _1_6i c.(?_-42)_(596+1_597-1)del r.0? p.0? FA - pathogenic (recessive) g.(89871801_89874701)_(89883065_?)del g.(89805393_89808293)_(89816657_?)del - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_7i c.(?_-42)_(597-1_709+1)del r.0? p.0? FA - pathogenic (recessive) g.(89871687_89871801)_(89883065_?)del g.(89805279_89805393)_(89816657_?)del g.88399249_88412249del13001 - FANCA_000710 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_7i c.(?_-42)_(597-1_709+1)del r.0? p.0? FA - pathogenic (recessive) g.(89871687_89871801)_(89883065_?)del g.(89805279_89805393)_(89816657_?)del g.88399249_88412249del13001 - FANCA_000710 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. _1_7i c.(?_-42)_(709+1_710-1)del r.0? p.0? FA - pathogenic (recessive) g.(89869750_89871687)_(89883065_?)del g.(89803342_89805279)_(89816657_?)del - - FANCA_000031 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_7i c.(?_-42)_(709+1_710-1)del r.0? p.0? FA - pathogenic (recessive) g.(89869750_89871687)_(89883065_?)del g.(89803342_89805279)_(89816657_?)del g.88398749_88425749del27001 - FANCA_000031 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_7i c.(?_-42)_(709+1_710-1)del r.0? p.0? FA - pathogenic (recessive) g.(89869750_89871687)_(89883065_?)del g.(89803342_89805279)_(89816657_?)del g.88398749_88420249del21501 - FANCA_000031 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. _1_8i c.(?_-42)_(792+1_793-1)del r.0? p.0? FA - pathogenic (recessive) g.(89866047_89869666)_(89883065_?)del g.(89799639_89803258)_(89816657_?)del - - FANCA_000033 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 1 c.(?_-42)_(792+1_793-1)del r.0? p.0? FA - pathogenic (recessive) g.(89866047_89869666)_(89883065_?)del g.(89799639_89803258)_(89816657_?)del - - FANCA_000033 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - 0 - Johan de Winter
+/. _1_8i c.(?_-42)_(792+1_793-1)del r.0? p.0? FA - pathogenic (recessive) g.(89866047_89869666)_(89883065_?)del g.(89799639_89803258)_(89816657_?)del - - FANCA_000033 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_8i c.(?_-42)_(792+1_793-1)del r.0? p.0? FA - pathogenic (recessive) g.(89866047_89869666)_(89883065_?)del g.(89799639_89803258)_(89816657_?)del - - FANCA_000033 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_11i c.(?_-42)_(1006+1_1007-1)del r.0? p.0? FA - pathogenic (recessive) g.(89858956_89862313)_(89883065_?)del g.(89792548_89795905)_(89816657_?)del - - FANCA_000001 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_11i c.(?_-42)_(1006+1_1007-1)del r.0? p.0? FA - pathogenic (recessive) g.(89858956_89862313)_(89883065_?)del g.(89792548_89795905)_(89816657_?)del - - FANCA_000001 - - - - Germline ? - - 0 - Sue Richards
+/. _1_11i c.(?_-42)_(1006+1_1007-1)del r.0? p.0? FA - pathogenic (recessive) g.(89858956_89862313)_(89883065_?)del g.(89792548_89795905)_(89816657_?)del - - FANCA_000001 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_11i c.(?_-42)_(1006+1_1007-1)del r.0? p.0? FA - pathogenic (recessive) g.(89858956_89862313)_(89883065_?)del g.(89792548_89795905)_(89816657_?)del g.88387000_88412000del25001 - FANCA_000001 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_11i c.(?_-42)_(1006+1_1007-1)del r.0? p.0? FA - pathogenic (recessive) g.(89858956_89862313)_(89883065_?)del g.(89792548_89795905)_(89816657_?)del g.88387749_88432749del45001 - FANCA_000001 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. 1 c.(?_-42)_(1083+1_1084-1)del r.0? p.0? FA - pathogenic (recessive) g.(89858477_89858878)_(89883065_?)del g.(89792069_89792470)_(89816657_?)del - - FANCA_000620 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - 0 - Johan de Winter
+/. _1_14i c.(?_-42)_(1359+1_1360-1)del r.0? p.0? FA - pathogenic (recessive) g.(89851373_89857810)_(89883065_?)del g.(89784965_89791402)_(89816657_?)del - - FANCA_000025 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_14i c.(?_-42)_(1359+1_1360-1)del r.0? p.0? FA - pathogenic (recessive) g.(89851373_89857810)_(89883065_?)del g.(89784965_89791402)_(89816657_?)del g.88383499_88474299del90801 - FANCA_000025 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_14i c.(?_-42)_(1359+1_1360-1)del r.0? p.0? FA - pathogenic (recessive) g.(89851373_89857810)_(89883065_?)del g.(89784965_89791402)_(89816657_?)del g.88383499_88437499del54001 - FANCA_000025 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. _1_20i c.(?_-42)_(1826+1_1827-1)del r.0? p.0? FA - pathogenic (recessive) g.(89842224_89845208)_(89883065_?)del g.(89775816_89778800)_(89816657_?)del - - FANCA_000564 - PubMed: Castella 2011 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_20i c.(?_-42)_(1826+1_1827-1)del r.0? p.0? FA - pathogenic (recessive) g.(89842224_89845208)_(89883065_?)del g.(89775816_89778800)_(89816657_?)del - - FANCA_000564 - Castella 2011 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_21i c.(?_-42)_(1900+1_1901-1)del r.0? p.0? FA - pathogenic (recessive) g.(89839793_89842149)_(89883065_?)del g.(89773385_89775741)_(89816657_?)del - - FANCA_000005 Wijker et al, 1999 reports this allele as c.827-?_1225+?del PubMed: Morgan 1999 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 1 c.(?_-42)_(2014+1_2015-1)del r.0? p.0? FA - pathogenic (recessive) g.(89838223_89839678)_(89883065_?)del g.(89771815_89773270)_(89816657_?)del - - FANCA_000621 - Pallavi Shukla, NIIH - - Unknown ? - - 0 - Arleen D. Auerbach
+/. 1 c.(?_-42)_(2014+1_2015-1)del r.0? p.0? FA - pathogenic (recessive) g.(89838223_89839678)_(89883065_?)del g.(89771815_89773270)_(89816657_?)del - - FANCA_000621 - Pallavi Shukla, NIIH - - Unknown ? - - 0 - Arleen D. Auerbach
+/. _1_29i c.(?_-42)_(2852+1_2853-1)del r.0? p.0? FA - pathogenic (recessive) g.(89825114_89828356)_(89883065_?)del g.(89758706_89761948)_(89816657_?)del - - FANCA_000468 - OHSU - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_29i c.(?_-42)_(2852+1_2853-1)del r.0? p.0? FA - pathogenic (recessive) g.(89825114_89828356)_(89883065_?)del g.(89758706_89761948)_(89816657_?)del - - FANCA_000468 - OHSU - - Germline ? - - 0 - Sue Richards
+/+ _1_30i c.(?_-42)_2982-1786del r.0? p.0? FA - pathogenic (recessive) g.89820416_89883065del - g.88347917_88433278del85362 - FANCA_000704 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. _1_30i c.(?_-42)_(2981+1_2982-1)del r.0? p.0? FA - pathogenic (recessive) g.(89818631_89824984)_(89883065_?)del g.(89752223_89758576)_(89816657_?)del - - FANCA_000011 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_30i c.(?_-42)_(2981+1_2982-1)del r.0? p.0? FA - pathogenic (recessive) g.(89818631_89824984)_(89883065_?)del g.(89752223_89758576)_(89816657_?)del - - FANCA_000011 - PubMed: Wijker 1999 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_30i c.(?_-42)_(2981+1_2982-1)del r.0? p.0? FA - pathogenic (recessive) g.(89818631_89824984)_(89883065_?)del g.(89752223_89758576)_(89816657_?)del - - FANCA_000011 - PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter
+/. _1_30i c.(?_-42)_(2981+1_2982-1)del r.0? p.0? FA - pathogenic (recessive) g.(89818631_89824984)_(89883065_?)del g.(89752223_89758576)_(89816657_?)del - - FANCA_000011 - PubMed: Wijker 1999 - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_31i c.(?_-42)_3066+281del r.0? p.0? FA - pathogenic (recessive) g.89818265_89883065del - g.88345766_88460603del114838 - FANCA_000703 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_31i c.(?_-42)_3066+281del r.0? p.0? FA - pathogenic (recessive) g.89818265_89883065del - g.88345766_88460603del114838 - FANCA_000703 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. _1_31i c.(?_-42)_(3066+1_3067-1)del r.0? p.0? FA - pathogenic (recessive) g.(89816311_89818545)_(89883065_?)del g.(89749903_89752137)_(89816657_?)del - - FANCA_000003 - PubMed: Morgan 1999 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_31i c.(?_-42)_(3066+1_3067-1)del r.0? p.0? FA - pathogenic (recessive) g.(89816311_89818545)_(89883065_?)del g.(89749903_89752137)_(89816657_?)del - - FANCA_000003 - PubMed: Morgan 1999 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_31i c.(?_-42)_(3066+1_3067-1)del r.0? p.0? FA - pathogenic (recessive) g.(89816311_89818545)_(89883065_?)del g.(89749903_89752137)_(89816657_?)del - - FANCA_000003 See FANCA_00006 (Wijker et al, 1999) PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter
+/. _1_31i c.(?_-42)_(3066+1_3067-1)del r.0? p.0? FA - pathogenic (recessive) g.(89816311_89818545)_(89883065_?)del g.(89749903_89752137)_(89816657_?)del - - FANCA_000003 - PubMed: Adachi 2002 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_36i c.(?_-42)_(3626+1_3627-1)del r.0? p.0? FA - pathogenic (recessive) g.(89809347_89811366)_(89883065_?)del g.(89742939_89744958)_(89816657_?)del - - FANCA_000028 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_36i c.(?_-42)_(3626+1_3627-1)del r.0? p.0? FA - pathogenic (recessive) g.(89809347_89811366)_(89883065_?)del g.(89742939_89744958)_(89816657_?)del g.88338249_88470249del132001 - FANCA_000028 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. _1_36i c.(?_-42)_(3626+1_3627-1)del r.0? p.0? FA - pathogenic (recessive) g.(89809347_89811366)_(89883065_?)del g.(89742939_89744958)_(89816657_?)del - - FANCA_000028 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - Daniela Pilonetto
+/+ _1_37i c.(?_-42)_(3765+1_3766-1)del r.0? p.0? FA - pathogenic (recessive) g.(89807275_89809207)_(89883065_?)del g.(89740867_89742799)_(89816657_?)del - - FANCA_000545 - OHSU - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_38i c.(?_-42)_(3828+1_3829-1)del r.0? p.0? FA - pathogenic (recessive) g.(89806508_89807211)_(89883065_?)del g.(89740100_89740803)_(89816657_?)del - - FANCA_000029 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 range of deletion undefined - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 range of deletion undefined - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - PubMed: Chandra 2005 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - PubMed: Savino 2003 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter
+/+ _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - PubMed: Chandra 2005 - - Germline ? - - 0 - Sue Richards
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del - - FANCA_000008 - PubMed: Centra 1998 - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del g.88322270_88505839del183570 - FANCA_000008 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del g.88322270_88505839del183570 - FANCA_000008 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del g.88131700_88610500del478801 - FANCA_000008 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del g.88227499_88446249del218751 - FANCA_000008 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del g.88302909_88483387del180479 - FANCA_000008 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del g.88250100_88425360del175261 - FANCA_000008 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-42)_(*1050_?)del r.0? p.0? FA - pathogenic (recessive) g.(?_89803959)_(89883065_?)del g.(?_89737551)_(89816657_?)del g.88281756_88827254del545499 - FANCA_000008 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
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