Unique variants in gene FANCA

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

626 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

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 _1_43_ c.-4617_*580del - r.? p.? FA g.89804429_89887640del g.89738021_89821232del g.88331930_88415141del83212 - FANCA_000693 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/+ 1 _1_3i c.-4157_284-1315del - r.? p.? FA g.89878794_89887180del g.89812386_89820772del g.88406326_88414712del8387 - FANCA_000653 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/+ 1 _1_37i c.-3552_3765+261del - r.? p.? FA g.89808947_89886575del g.89742539_89820167del g.88336484_88414112del77629 - FANCA_000695 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/. 1 1 c.-42-?_792+?del - r.(?) p.0? FA g.89883065_89869667del g.89803259_89816657del - - FANCA_000033 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - - - Johan de Winter
+/. 1 1 c.-42-?_1083+?del - r.(?) p.(fs*) FA g.89883065_89858879del g.89792471_89816657del - - FANCA_000620 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - - - Johan de Winter
?/. 2 1 c.-42-?_2014+?del - r.(?) p.? FA g.89883065_89839679del g.89773271_89816657del - - FANCA_000621 - Pallavi Shukla, NIIH - - Unknown ? - - - - Arleen D. Auerbach
+/. 1 _1_1i c.(?_-1)_79+?del - r.0? p.0? FA g.89883065_89882945del - - - FANCA_000010 - - - - Germline ? - - - - Arleen D. Auerbach
+/+ 1 _1_2i c.(?_-42)_(189+1_190-1)del - r.(?) p.? FA g.(89881022_89882284)_89883065del - g.88409549_88411749del2201 - FANCA_000654 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
?/., +/. 2 _1_3i c.(?_-1)_283+?del - r.0? p.0? FA g.89883065_89880928del - - - FANCA_000026 - - - - Germline ? - - - - Arleen D. Auerbach
+/., ?/., +/+ 6 _1_5i c.(?_-1)_522+?del - r.0? p.0? FA g.89883065_89877115del - - - FANCA_000007 - PubMed: Morgan 1999 - - Germline ? - - - - Arleen D. Auerbach, Sue Richards
+/+ 1 _1_5i c.(?_-42)_523-828del - r.? p.? FA g.89875603_89883065del - g.88403104_88418467del15364 - FANCA_000651 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/+ 2 _1_5i c.(?_-42)_523-818del - r.? p.? FA g.89875593_89883065del - g.88403094_88418774del15681 - FANCA_000650 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/+ 1 _1_5i c.(?_-42)_523-663del - r.? p.? FA g.89875438_89883065del - g.88402939_88435730del32792 - FANCA_000718 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/+ 1 _1_5i c.(?_-42)_(522+1_523-1)del - r.(?) p.? FA g.(89874776_89877114)_89883065del - g.88403999_88437249del33251 - FANCA_000717 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/., +/+ 9 _1_6i c.(?_-1)_596+?del - r.0? p.0? FA g.89883065_89874702del - - - FANCA_000009 - - - - Germline ? - - - - Arleen D. Auerbach, Sue Richards
+/+ 5 _1_6i c.(?_-42)_596+540del - r.? p.? FA g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/+ 1 _1_6i c.(?_-42)_597-800del - r.? p.? FA g.89872600_89883065del - g.88400101_88419559del19459 - FANCA_000713 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/+ 2 _1_7i c.(?_-42)_(597-1_709+1)del - r.(?) p.? FA g.(89871687_89871801)_89883065del - g.88399249_88412249del13001 - FANCA_000710 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
?/. 1 _1_7i c.(?_-1)_709+?del - r.0? p.0? FA g.89883065_89871688del - - - FANCA_000031 - - - - Germline ? - - - - Arleen D. Auerbach
+/+ 2 _1_7i c.(?_-42)_(709+1_710-1)del - r.(?) p.? FA g.(89869750_89871687)_89883065del - g.88398749_88420249del21501, g.88398749_88425749del27001 - FANCA_000709 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
?/. 3 _1_8i c.(?_-1)_792+?del - r.0? p.0? FA g.89883065_89869667del g.89803259_89816657del - - FANCA_000033 - - - - Germline ? - - - - Arleen D. Auerbach
?/., +/+ 3 _1_11i c.(?_-1)_1006+?del - r.0? p.0? FA g.89883065_89862314del - - - FANCA_000001 - - - - Germline ? - - - - Arleen D. Auerbach, Sue Richards
+/+ 2 _1_11i c.(?_-42)_(1006+1_1007-1)del - r.(?) p.? FA g.(89858956_89862313)_89883065del - g.88387000_88412000del25001, g.88387749_88432749del45001 - FANCA_000682 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
?/. 1 _1_14i c.(?_-1)_1359+?del - r.0? p.0? FA g.89883065_89857811del - - - FANCA_000025 - - - - Germline ? - - - - Arleen D. Auerbach
+/+ 2 _1_14i c.(?_-42)_(1359+1_1360-1)del - r.(?) p.? FA g.(89851373_89857810)_89883065del - g.88383499_88437499del54001, g.88383499_88474299del90801 - FANCA_000678 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/. 2 _1_20i c.(?_-1)_1826+?del - r.0? p.0? FA g.89883065_89845209del - - - FANCA_000564 - PubMed: Castella 2011, Castella 2011 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 _1_21i c.(?_-1)_1900+?del - r.0? p.0? FA g.89883065_89842150del - - - FANCA_000005 Wijker et al, 1999 reports this allele as c.827-?_1225+?del PubMed: Morgan 1999 - - Germline ? - - - - Arleen D. Auerbach
?/., +/. 2 _1_29i c.(?_-1)_2852+?del - r.0? p.0? FA g.89883065_89828357del - - - FANCA_000468 - OHSU - - Germline ? - - - - Sue Richards, Arleen D. Auerbach
+/. 4 _1_30i c.(?_-1)_2981+?del - r.0? p.0? FA g.89883065_89824985del - - - FANCA_000011 - PubMed: Ameziane 2007, PubMed: Wijker 1999 - - Germline ? - - - - Johan de Winter, Arleen D. Auerbach
+/+ 1 _1_30i c.(?_-42)_2982-1786del - r.? p.? FA g.89820416_89883065del - g.88347917_88433278del85362 - FANCA_000704 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/. 4 _1_31i c.(?_-1)_3066+?del - r.0? p.0? FA g.89883065_89818546del - - - FANCA_000003 See FANCA_00006 (Wijker et al, 1999) PubMed: Ameziane 2007, PubMed: Morgan 1999, PubMed: Adachi 2002 - - Germline ? - - - - Johan de Winter, Arleen D. Auerbach
+/+ 2 _1_31i c.(?_-42)_3066+281del - r.? p.? FA g.89818265_89883065del - g.88345766_88460603del114838 - FANCA_000703 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
?/. 1 _1_36i c.(?_-1)_3626+?del - r.0? p.0? FA g.89883065_89811367del - - - FANCA_000028 - - - - Germline ? - - - - Arleen D. Auerbach
+/+ 1 _1_36i c.(?_-42)_(3626+1_3627-1)del - r.(?) p.? FA g.(89809347_89811366)_89883065del - g.88338249_88470249del132001 - FANCA_000696 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/+ 1 _1_37i c.(?_-1)_3765+?del - r.0? p.0? FA g.89883065_89809208del - - - FANCA_000545 - OHSU - - Germline ? - - - - Arleen D. Auerbach
?/. 1 _1_38i c.(?_-1)_3828+?del - r.0? p.0? FA g.89883065_89807212del - - - FANCA_000029 - - - - Germline ? - - - - Arleen D. Auerbach
+/+ 1 _1_43_ c.(?_-1)_4368+?del - r.0? p.0? FA g.89883065_89805009del - - - FANCA_000008 - PubMed: Chandra 2005 - - Germline ? - - - - Sue Richards
+/+ 8 _1_43_ c.(?_-42)_(*1050_?)del - r.?, r.(?) p.? FA g.89803959_89883065del - g.88250100_88425360del175261, g.88281756_88827254del545499, g.88330849_88500000del169152, 4 more items - FANCA_000692 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/. 1 _1_43_ c.(?_-1)_4368+?del - r.0? p.0? FA g.89883065_89803896del - - - FANCA_000008 - PubMed: Centra 1998 - - Germline ? - - - - Arleen D. Auerbach
?/., +/. 18 _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89805008_89883024del, g.89883065_89805009del - - - FANCA_000000, FANCA_000008, FANCA_000034 range of deletion undefined PubMed: Ameziane 2007, PubMed: Chandra 2005, PubMed: Savino 2003 - - Germline ? - - - - Arleen D. Auerbach, Johan de Winter
+/. 1 _1_36i c.(?_-1)_3626+?de - r.0? p.0? FA g.89883065_89811367del - - - FANCA_000028 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - Daniela Pilonetto
+?/. 1 1 c.1A>C - r.(?) p.0? FA g.89883023T>G g.89816615T>G - - FANCA_000582 - - - - Germline ? - - - - Sue Richards
+/. 4 1 c.1A>G - r.(?) p.0? FA g.89883023T>C g.89816615T>C - - FANCA_000002 - PubMed: Tachibana 1999 - - Germline ? - - - - Arleen D. Auerbach, Sue Richards
+/., ?/. 4 1 c.1A>T - r.(?) p.0? FA g.89883023T>A g.89816615T>A - - FANCA_000019 - PubMed: Chandra 2005 - - Germline ? - - - - Arleen D. Auerbach, Sue Richards
+/. 10 1 c.2T>C - r.(?) p.0? FA g.89883022A>G g.89816614A>G - - FANCA_000004 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - - - Arleen D. Auerbach, Johan de Winter
+/. 1 1 c.2T>G - r.(?) p.0? FA g.89883022A>C g.89816614A>C - - FANCA_000506 - Stoppa-Lyonnet, Universite Paris Descartes - - Germline ? - - - - Arleen D. Auerbach
+/. 2 1 c.11C>A - r.(?) p.(S4*) FA g.89883013G>T g.89816605G>T - - FANCA_000475 - Stoppa-Lyonnet, Universite Paris Descartes - - Germline ? - - - - Arleen D. Auerbach
+/+ 1 1 c.13G>A - r.(?) p.(W5*) FA g.89883011C>T g.89816603C>T - - FANCA_000596 - PubMed: Moghrabi 2009 - - Germline ? - - - - Sue Richards
?/. 5 1 c.24C>G - r.(?) p.? FA g.89883000G>C g.89816592G>C - - FANCA_000021 - - - - Germline ? - - - - Arleen D. Auerbach
+/., +/+ 3 1 c.44_69del26 - r.(del), r.(?) p.?, p.(fs*) FA g.89882980_89882955del g.89816547_89816572del26 - - FANCA_000012 - - - - Germline ? - - - - Arleen D. Auerbach, Sue Richards
+/. 1 1 c.50delG - r.(?) p.(G17Afs*17) FA g.89882974_89882974del g.89816566delC - - FANCA_000565 - PubMed: Castella 2011 - - Germline ? - - - - Arleen D. Auerbach
-?/. 1 - c.58A>G likely benign r.(?) p.(Arg20Gly) - g.89882966T>C - FANCA:c.58A>G (R20G) - FANCA_000753 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 9 1 c.65G>A - r.(?) p.(Trp22*), p.(W22*) FA g.89882959C>T g.89816551C>T - - FANCA_000013 - Stoppa-Lyonnet, Universite Paris Descartes - - Germline ? - - - - Arleen D. Auerbach
+/. 1 1 c.66G>A - r.(?) p.(Trp22*) FA g.89882958C>T g.89816550C>T - - FANCA_000014 - - - - Germline ? - - - - Arleen D. Auerbach
-/. 1 - c.79+119G>A benign r.(=) p.(=) - g.89882826C>T - FANCA:c.79+119G>A - FANCA_000752 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.79+138C>A benign r.(=) p.(=) - g.89882807G>T - FANCA:c.79+138C>A - FANCA_000751 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.80-13C>T likely benign r.(=) p.(=) - g.89882407G>A - FANCA:c.80-13C>T - FANCA_000750 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 1i c.80-?_522+?del - r.(?) p.? FA g.89882394_89877115del g.89810707_89815986del - - FANCA_000039 - - - - Germline ? - - - - Arleen D. Auerbach
?/. 1 1i c.80-?_4368+?del - r.(?) p.? FA g.89882394_89805009del g.89738601_89815986del - - FANCA_000038 - - - - Germline ? - - - - Arleen D. Auerbach
+/+ 2 1i_5i c.(79+1_80-1)_(522+1_523-1)del - r.(?) p.? FA g.(89874776_89877114)_(89882395_89882944)del - g.88403105_88410000del6896 - FANCA_000716 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/. 1 2 c.88delG - r.(?) p.(Val30fs*) FA g.89882386_89882386del g.89815978delC - - FANCA_000608 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - - - Johan de Winter
+/. 1 2 c.97delG - r.(?) p.Glu33Lysfs*11 - g.89882377del g.89815969delC - - FANCA_000635 - Pilonetto DV - HC/UFPR (7/9/2015) - - Germline - - - - - Daniela Pilonetto
+/. 4 2 c.100A>T - r.(?) p.(Lys34*), p.(K34*) FA g.89882374T>A g.89815966T>A - - FANCA_000015 See FANCA_00015 (Levran et al, 2005) PubMed: Gille 2012, Journal: Gille 2012, PubMed: Ameziane 2007 - - Germline ? - - - - Johan de Winter, Arleen D. Auerbach
-?/. 1 - c.115A>C likely benign r.(=) p.(=) - g.89882359T>G - FANCA:c.115A>C (R39=) - FANCA_000749 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.128T>A - r.(?) p.(L43*) FA g.89882346A>T g.89815938A>T - - FANCA_000035 - PubMed: Ameziane 2007 - - Germline ? - - - - Johan de Winter
+/. 1 2 c.154C>T - r.(?) p.(R52*) FA g.89882320G>A g.89815912G>A - - FANCA_000016 - PubMed: Wijker 1999 - - Germline ? - - - - Arleen D. Auerbach
?/., +/. 3 2 c.163C>T - r.(?) p.(Q55*) FA g.89882311G>A g.89815903G>A - - FANCA_000017 - PubMed: Wijker 1999 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 2 c.171_172insT - r.(?) p.(N58*) FA g.89882303_89882302ins g.89815894_89815895insA - - FANCA_000482 - Stoppa-Lyonnet, Universite Paris Descartes - - Germline ? - - - - Arleen D. Auerbach
+/. 1 2 c.173dupA - r.(?) p.(fs*) FA g.89882301_89882301dup g.89815893dupT - - FANCA_000036 - PubMed: Ameziane 2007 - - Germline ? - - - - Johan de Winter
?/. 1 2 c.189+2T>A - r.(?) p.? FA g.89882283A>T g.89815875A>T - - FANCA_000037 - - - - Germline ? - - - - Arleen D. Auerbach
+/+ 1 2i_43i c.189+550_(*1050_?)del - r.? p.? FA g.89803959_89881735del - g.88257445_88409236del151792 - FANCA_000691 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/+ 1 2i_6i c.190-494_597-592del - r.(?) p.(Val64Profs*20) FA g.89872392_89881515del g.89805984_89815107del g.88399898_88409021del9124 - FANCA_000712 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/+ 2 2i_43i c.190-469_(*1050_?)del - r.? p.? FA g.89803959_89881490del - g.88224066_88408991del184926 - FANCA_000690 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/+ 1 2i_3i c.190-146_284-1082del - r.(?) p.(Val64Alafs*43) FA g.89878561_89881167del g.89812153_89814759del g.88406084_88408690del2607 - FANCA_000652 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
?/. 2 2i c.190-2A>T - r.spl? p.? - g.89881023T>A g.89814615T>A - - FANCA_000636 Match dbSNP record rs183350210 MAF/MinorAlleleCount A=0.0002/1 Pilonetto DV - HC/UFPR (7/9/2015) - - Germline - - - - - Daniela Pilonetto
+/. 1 2i c.190-1G>C - r.spl p.? FA g.89881022C>G g.89814614C>G - - FANCA_000485 - Stoppa-Lyonnet, Universite Paris Descartes - - Germline ? - - - - Arleen D. Auerbach
+/. 1 2i c.190-1G>T - r.(?) p.? FA g.89881022C>A g.89814614C>A - - FANCA_000018 - PubMed: Savino 2003 - - Germline ? - - - - Arleen D. Auerbach
+/. 3 2i, 2i_3i c.190-?_283+?del - r.(?), r.0? p.?, p.0? FA g.89881021_89880928del g.89814520_89814613del - - FANCA_000040 - PubMed: Yagasaki 2004 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 2i c.190-?_596+?del - r.(?) p.? FA g.89881021_89874702del g.89808294_89814613del - - FANCA_000048 - PubMed: Yagasaki 2004 - - Germline ? - - - - Arleen D. Auerbach
+/. 2 2i c.190-?_4368+?del - r.(?) p.? FA g.89881021_89805009del g.89738601_89814613del - - FANCA_000041 - PubMed: Yagasaki 2004 - - Germline ? - - - - Arleen D. Auerbach
+/. 2 3 c.233_236delTTGA - r.(?) p.(I78Tfs*16), p.(T78Ifs*16) FA g.89880978_89880975del g.89814567_89814570delTCAA - - FANCA_000556 - PubMed: Castella 2011, Castella 2011 - - Germline ? - - - - Arleen D. Auerbach
+/. 2 3 c.238delT - r.(?) p.(C80Vfs*), p.(C80Vfs*14) FA g.89880973_89880973del g.89814565delA - - FANCA_000557 - Castella 2011, PubMed: Castella 2011 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 3 c.240_241delTG - r.(?) p.(C80*) FA g.89880971_89880970del g.89814562_89814563delCA - - FANCA_000494 - Stoppa-Lyonnet, Universite Paris Descartes - - Germline ? - - - - Arleen D. Auerbach
+/. 1 3 c.258T>A - r.(?) p.(Y86*) FA g.89880953A>T g.89814545A>T - - FANCA_000497 - Stoppa-Lyonnet, Universite Paris Descartes - - Germline ? - - - - Arleen D. Auerbach
+/. 1 3 c.275C>A - r.(?) p.(S92*) FA g.89880936G>T g.89814528G>T - - FANCA_000049 - PubMed: Ameziane 2007 - - Germline ? - - - - Johan de Winter
+/. 1 3 c.283delT - r.(?) p.? FA g.89880928_89880928del g.89814520delA - - FANCA_000572 - - - - Germline ? - - - - Sue Richards
+/. 1 3i c.283+1G>T - r.(?) p.? FA g.89880927C>A g.89814519C>A - - FANCA_000571 - - - - Germline ? - - - - Sue Richards
+/. 2 3i c.283+3A>C - r.(?) p.(fs*) FA g.89880925T>G g.89814517T>G - - FANCA_000020 - PubMed: Savino 2003 - - Germline ? - - - - Arleen D. Auerbach
+/+ 1 3i_7i c.284-1328_705del - r.? p.? FA g.89871692_89878807del g.89805284_89812399del g.88399194_88406309del7116 - FANCA_000711 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/+ 2 3i_10i c.284-1021_894-762del - r.(?) p.(Ala97Glufs*11) FA g.89863188_89878500del g.89796780_89812092del g.88390697_88406009del15313 - FANCA_000706 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
?/., +/. 11 3i, 3i_5i c.284-?_522+?del - r.(?), r.0? p.?, p.0? FA g.89877479_89877115del g.89810707_89811071del - - FANCA_000052 - Stoppa-Lyonnet, Universite Paris Descartes - - Germline ? - - - - Arleen D. Auerbach
+/., ?/. 3 3i_6i, 3i c.284-?_596+?del - r.0?, r.(?) p.0?, p.? FA g.89877479_89874702del g.89808294_89811071del - - FANCA_000053 - - - - Germline ? - - - - Arleen D. Auerbach
?/., +/. 2 3i c.284-?_709+?del - r.(?) p.? FA g.89877479_89871688del g.89805280_89811071del - - FANCA_000056 - - - - Germline ? - - - - Arleen D. Auerbach, Sue Richards
+/. 1 3i c.284-?_792+?del - r.(del) p.(del) FA g.89877479_89869667del g.89803259_89811071del - - FANCA_000470 - OHSU - - Germline ? - - - - Arleen D. Auerbach
?/. 1 3i c.284-?_2504+?del - r.(?) p.? FA g.89877479_89836245del g.89769837_89811071del - - FANCA_000050 - PubMed: Chandra 2005 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 3i c.284-?_2852+?del - r.(?) p.(fs*) FA g.89877479_89828357del g.89761949_89811071del - - FANCA_000615 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - - - Johan de Winter
?/. 1 3i c.284-?_4010+?del - r.(?) p.? FA g.89877479_89805886del g.89739478_89811071del - - FANCA_000051 - - - - Germline ? - - - - Arleen D. Auerbach
+/. 1 4 c.284delG - r.(?) p.(G95Afs*) FA g.89877479_89877479del g.89811071delC - - FANCA_000560 - PubMed: Castella 2011 - - Germline ? - - - - Arleen D. Auerbach
+/. 2 4 c.284_522del - r.(?) p.(fs*) FA g.89877479_89877115del g.89810707_89811071del - - FANCA_000057 - PubMed: Ameziane 2007 - - Germline ? - - - - Johan de Winter
+/+ 1 3i_5i c.(283+1_284-1)_(522+1_523-1)del - r.(?) p.? FA g.(89874776_89877114)_(89877480_89880927)del - g.88404000_88405000del1001 - FANCA_000715 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
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