FANCA Mutations
Gene FANCA  
PolyMut mutation  
Mutation 1627_1900del274  
Published Name 1671-1944del  
Amino acid change  
Exon exon 18  
Type frameshift  
Comment frameshift & premature stop codon 6 amino acids downstream resulting in a truncated protein of 548 amino acids (542+MQPWE)  
Source FAB consortium. Positional cloning of the Fanconi anaemia group A gene. Nature Genetics 14:324-328 (1996)  
Proper Nomenclature delExon18-21  
Proper Nomenclature c.1627-?_1900+?del  

Gene FANCA  
PolyMut mutation  
Mutation 1115_1118delTTGG  
Published Name 1159-1162delTTGG  
Amino acid change  
Exon exon 13  
Type Frameshift  
Comment premature stop codon 42 amino acids downstream of V371  
Source FAB consortium. Positional cloning of the Fanconi anaemia group A gene. Nature Genetics 14:324-328 (1996)  
Proper Nomenclature  
Proper Nomenclature c.1115_1118delTTGG  

Gene FANCA  
PolyMut mutation  
Mutation 1471_1626del156  
Published Name 1515-1670del  
Amino acid change  
Exon exon 16  
Type Deletion  
Comment [Ex16-17del] in-frame deletion 52 amino acids at position 491 491-542  
Source FAB consortium. Positional cloning of the Fanconi anaemia group A gene. Nature Genetics 14:324-328 (1996)  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut mutation  
Mutation 1360_1826del467  
Published Name 1391del467  
Amino acid change  
Exon exon 15  
Type frameshift  
Comment premature stop codon leading to truncated protein of 455 amino acids (453 + S + R)  
Source Lo Ten Foe et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nature Genetics 14:320-323 (1996)  
Proper Nomenclature DelExon15-20  
Proper Nomenclature c.1360_1826del  

Gene FANCA  
PolyMut mutation  
Mutation IVS7+5G>A  
Published Name 709+5G->A  
Amino acid change  
Exon intron 7  
Type RNA splicing  
Comment splice site mutation leading to D237G + ins AFMTRCGFLD (secondary to insertion of 30 bp of intronic sequence)  
Source Lo Ten Foe et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nature Genetics 14:320-323 (1996)  
Proper Nomenclature  
Proper Nomenclature 709+5G>A  

Gene FANCA  
PolyMut mutation  
Mutation 1901_2778del878  
Published Name 1932del879  
Amino acid change  
Exon exon 23  
Type Deletion  
Comment Deletion of exons 22-28. Originally reported as an 879 bp deletion resulting in D634V, in frame deletion of 293 amino acids. Jan Pronk reports this to be an 878 bp deletion based on his analysis of Anna’s (genomic?) data.  
Source Lo Ten Foe et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nature Genetics 14:320-323 (1996)  
Proper Nomenclature delExon22-28  
Proper Nomenclature c.1901_2778del  

Gene FANCA  
PolyMut mutation  
Mutation 3715_3729del15  
Published Name 3715-3729del  
Amino acid change 1239del5  
Exon exon 37  
Type Deletion  
Comment In frame deletion of 5 amino acids between repeats. Eliminates MboII site. 1239-1243del Not found in 70 control alleles screened.  
Source Levran et al. [1997]  
Proper Nomenclature p.Glu1239_Arg1243del  
Proper Nomenclature c.3715_3729del15  

Gene FANCA  
PolyMut mutation  
Mutation 3760_3761delGA  
Published Name 3760-3761del  
Amino acid change  
Exon exon 37  
Type Frameshift  
Comment frame shift; premature stop codon after 25 amino acids after residue 1254 (1254 + 25)  
Source Levran et al. [1997]  
Proper Nomenclature Frameshift  
Proper Nomenclature c.3760_3761delGA  

Gene FANCA  
PolyMut mutation  
Mutation 4249C>G  
Published Name 4249C>G  
Amino acid change H1417D  
Exon exon 42  
Type AA substitution  
Comment Creates DdeI site; not found in 70 control alleles screened.  
Source Levran et al. [1997]  
Proper Nomenclature p.His1417Asp  
Proper Nomenclature c.4249C>G  

Gene FANCA  
PolyMut mutation  
Mutation 1771C>T  
Published Name 1771C>T  
Amino acid change R591X  
Exon exon 19  
Type stop codon  
Comment Inheritance confirmed in the family by SSCP.  
Source Levran et al. PNAS (1997)  
Proper Nomenclature p.Arg591X  
Proper Nomenclature c.1771C>T  

Gene FANCA  
PolyMut mutation  
Mutation 3520_3522delTGG  
Published Name 3520-3522del  
Amino acid change W1174del  
Exon exon 36  
Type deletion  
Comment In frame deletion of trp residue at position 1174. Inheritance confirmed in two families by SSCP.  
Source Levran et al. [1997]  
Proper Nomenclature p.Try1174del  
Proper Nomenclature c.3520_3522delTGG  

Gene FANCA  
PolyMut mutation  
Mutation 1475A>G  
Published Name 1475A>G  
Amino acid change H492R  
Exon exon 16  
Type AA substitution  
Comment Inheritance confirmed by SSCP.  
Source Levran et al. [1997]  
Proper Nomenclature p.His492Arg  
Proper Nomenclature c.1475A>G  

Gene FANCA  
PolyMut mutation  
Mutation 542C>T  
Published Name 542C>T  
Amino acid change A181V  
Exon exon 6  
Type AA substitution  
Comment A complex allele of four point mutations; the other mutations are: 24 C>T, 732G>C and 755A>G.  
Source Levran et al. [1997]  
Proper Nomenclature p.Ala181Val  
Proper Nomenclature c.542C>T  

Gene FANCA  
PolyMut mutation  
Mutation 4075G>T  
Published Name 4075G>T  
Amino acid change D1359Y  
Exon exon 41  
Type AA substitution  
Comment Originally reported to be a polymorphism; reported as a mutation 2/14/97. Not found in 100 normal chromosomes.  
Source Savino et al. Am J Hum Genet 61:1246 (1997) A. Savoia  
Proper Nomenclature p.Asp1359Tyr  
Proper Nomenclature c.4075G>T  

Gene FANCA  
PolyMut mutation  
Mutation 894_1006del113  
Published Name 938-1050del  
Amino acid change  
Exon exon 11  
Type frameshift  
Comment frameshift; premature stop codon 2 amino acids downstream of C297 (297+CI)  
Source FAB consortium. Positional cloning of the Fanconi anaemia group A gene. Nature Genetics 14:324-328 (1996)  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut mutation  
Mutation 3920delA  
Published Name 3920delA  
Amino acid change  
Exon exon 39  
Type frameshift  
Comment Frameshift and a stop in exon 39; 1306 + R  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature Frameshift  
Proper Nomenclature c.3920delA  

Gene FANCA  
PolyMut mutation  
Mutation 163C>T  
Published Name 163C>T  
Amino acid change Q55X  
Exon exon 2  
Type stop codon  
Comment  
Source Wijker et al. Eur J Hum Genet 6: (1999)  
Proper Nomenclature p.Gln55X  
Proper Nomenclature c.163C>T  

Gene FANCA  
PolyMut mutation  
Mutation 732G>C  
Published Name 732G>C  
Amino acid change L244F  
Exon exon 8  
Type AA substitution  
Comment A complex allele of four point mutations; the other mutations are: 24 C>T, 542C>T and 755A>G.  
Source Levran et al. [1997]  
Proper Nomenclature p.Leu244Phe  
Proper Nomenclature c.732G>C  

Gene FANCA  
PolyMut mutation  
Mutation 3788_3790delTCT  
Published Name 3788-3790del  
Amino acid change F1263del  
Exon exon 38  
Type deletion  
Comment del phe 1263  
Source Levran et al. [1997] also found by J. Pronk; reported 2/14/97  
Proper Nomenclature p.Phe1263del  
Proper Nomenclature c.3788_3790delTCT  

Gene FANCA  
PolyMut mutation  
Mutation 2535_2536delCT  
Published Name 2535-2536del  
Amino acid change  
Exon exon 27  
Type frameshift  
Comment Deletion of 1 out of 4 CT. Frame shift at aa 845L . stop codon after 20 aa. QVFFPVTRYFVQLLISRPYX  
Source Levran et al., (1997)  
Proper Nomenclature Frameshift  
Proper Nomenclature c.2535_2536delCT  

Gene FANCA  
PolyMut mutation  
Mutation IVS11-1delG  
Published Name IVS11-1delG  
Amino acid change  
Exon intron 11  
Type RNA splicing  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature  
Proper Nomenclature c.1007-1delG  

Gene FANCA  
PolyMut mutation  
Mutation 987_990delTCAC  
Published Name 987-990del  
Amino acid change  
Exon exon 11  
Type frameshift  
Comment Deletion of one out of two TCAC repeats. Frame shift starts at aa 330H (ALCX) Premature stop codon at aa 333.  
Source Levran et al. [1997]  
Proper Nomenclature  
Proper Nomenclature c.987_990delTCAC  

Gene FANCA  
PolyMut mutation  
Mutation IVS7+1G>A  
Published Name IVS7+1G>A  
Amino acid change  
Exon intron 7  
Type RNA splicing  
Comment  
Source Levran et al. PNAS (1997)  
Proper Nomenclature  
Proper Nomenclature c.709+1G>A  

Gene FANCA  
PolyMut mutation  
Mutation 3382C>G  
Published Name 3382C>G  
Amino acid change Q1128E  
Exon exon 34  
Type AA substitution  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature p.Gln1128Glu  
Proper Nomenclature c.3382C>G  

Gene FANCA  
PolyMut mutation  
Mutation 3164G>T  
Published Name 3164G>T  
Amino acid change R1055L  
Exon exon 32  
Type AA substitution  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature p.Arg1055Leu  
Proper Nomenclature c.3164G>T  

Gene FANCA  
PolyMut mutation  
Mutation IVS29(-19)_1del19  
Published Name IVS29-19del19  
Amino acid change  
Exon intron 29  
Type RNA splicing  
Comment 19 bp deletion between GCAG repeats (one of them is deleted). The deletion starts at position -19 in IVS 29. It is probably a splicing mutation and could also be a frame shift  
Source Levran et al. PNAS (1997)  
Proper Nomenclature  
Proper Nomenclature c.2853-19del19  

Gene FANCA  
PolyMut mutation  
Mutation 1303C>T  
Published Name 1303C>T  
Amino acid change R435C  
Exon exon 14  
Type AA substitution  
Comment  
Source Levran et al. PNAS (1997)  
Proper Nomenclature p.Arg435Cys  
Proper Nomenclature c.1303C>T  

Gene FANCA  
PolyMut mutation  
Mutation 24C>G  
Published Name 24C>G  
Amino acid change N8K  
Exon exon 1  
Type AA substitution  
Comment A complex allele of four point mutations; the other mutations are: 542C>T, 732G>C and 755A>G.  
Source Levran et al. [1997]  
Proper Nomenclature p.Asn8Lys  
Proper Nomenclature c.24C>G  

Gene FANCA  
PolyMut mutation  
Mutation 2450T>C  
Published Name 2450T>C  
Amino acid change L817P  
Exon exon 26  
Type AA substitution  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature p.Leu817Pro  
Proper Nomenclature c.2450T>C  

Gene FANCA  
PolyMut mutation  
Mutation 3760G>T  
Published Name 3760G>T  
Amino acid change E1254X  
Exon exon 37  
Type stop codon  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Glu1254X  
Proper Nomenclature c.3760G>T  

Gene FANCA  
PolyMut mutation  
Mutation 154C>T  
Published Name 154C>T  
Amino acid change R52X  
Exon exon 2  
Type stop codon  
Comment  
Source Wijker M et al. Eur J Hum Genet 6: (1999)  
Proper Nomenclature p.Arg52X  
Proper Nomenclature c.154C>T  

Gene FANCA  
PolyMut mutation  
Mutation 1191_1194delTGTC  
Published Name 1191delTGTC  
Amino acid change  
Exon exon 13  
Type frameshift  
Comment frameshift resulting in 412 aa peptide; 397 + AFQKRSSCLKTGWRVX  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature frameshift  
Proper Nomenclature c.1191_1194delTGTC  

Gene FANCA  
PolyMut mutation  
Mutation 790C>T  
Published Name 790C>T  
Amino acid change Q264X  
Exon exon 8  
Type stop codon  
Comment Not found in 100 normal chromosomes.  
Source Savino et al. Am J Hum Genet 61:1246 (1997)  
Proper Nomenclature p.Gln264X  
Proper Nomenclature c.790C>T  

Gene FANCA  
PolyMut mutation  
Mutation IVS9+3delA  
Published Name IVS9+3delA  
Amino acid change 793del34  
Exon intron 9  
Type exon skip  
Comment deletion of exon 9 confirmed on RNA; 793del34 and frameshift. Not found in 100 normal chromosomes.  
Source Savino et al. Am J Hum Genet 61:1246 (1997) A. Savoia; February 14, 1997  
Proper Nomenclature  
Proper Nomenclature c.826+3delA  

Gene FANCA  
PolyMut mutation  
Mutation IVS10+1G>T  
Published Name IVS10+1G>T  
Amino acid change  
Exon intron 10  
Type RNA splicing  
Comment No change in RNA found; may be RNA instability of the allele bearing the mutation. Not found in 100 normal chromosomes.  
Source Savino et al. Am J Hum Genet 61:1246 (1997) A. Savoia; February 14, 1997  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut mutation  
Mutation IVS14+1G>C  
Published Name IVS14+1G>C  
Amino acid change  
Exon intron 14  
Type RNA splicing  
Comment splicing mutation? unknown result: RNA not available. Not found in 100 normal chromosomes.  
Source Savino et al. Am J Hum Genet 61:1246 (1997) A. Savoia; February 14, 1997  
Proper Nomenclature  
Proper Nomenclature c.1359+1G>C  

Gene FANCA  
PolyMut mutation  
Mutation 2005C>T  
Published Name 2005C>T  
Amino acid change Q669X  
Exon exon 22  
Type stop codon  
Comment Not found in 100 normal chromosomes.  
Source Savino et al. Am J Hum Genet 61:1246 (1997) A. Savoia; February 14, 1997  
Proper Nomenclature p.Gln669X  
Proper Nomenclature c.2005C>T  

Gene FANCA  
PolyMut mutation  
Mutation 2314C>T  
Published Name 2314C>T  
Amino acid change Q772X  
Exon exon 25  
Type stop codon  
Comment Not found in 100 normal chromosomes.  
Source Savino et al. Am J Hum Genet 61:1246 (1997)  
Proper Nomenclature p.Gln772X  
Proper Nomenclature c.2314C>T  

Gene FANCA  
PolyMut mutation  
Mutation IVS28+83C>G  
Published Name IVS28+83C>G  
Amino acid change 928ins28aa+Stop  
Exon intron 28  
Type RNA splicing  
Comment New cryptic site and alternative splicing confirmed on RNA; 926 ins 28 aa + stop Not found in 100 normal chromosomes.  
Source Savino et al. Am J Hum Genet 61:1246 (1997) A. Savoia; February 14, 1997  
Proper Nomenclature  
Proper Nomenclature c.2778+83C>G  

Gene FANCA  
PolyMut mutation  
Mutation 2812_2830dup19  
Published Name 2831dup2812-2830  
Amino acid change  
Exon exon 29  
Type frameshift  
Comment Previously known as 2830ins19. 19 bp insertion; duplication of bases 2812-2830. Results in a frameshift. 943 + GNST + X Not found in 100 normal chromosomes.  
Source Savino et al. Am J Hum Genet 61:1246 (1997) A. Savoia; February 14, 1997 Auerbach lab 8/7/97  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut mutation  
Mutation 3559insG  
Published Name 3559insG  
Amino acid change  
Exon exon 36  
Type frameshift  
Comment frameshift. Not found in 100 normal chromosomes.  
Source Savino et al. Am J Hum Genet 61:1246 (1997) A. Savoia; February 14, 1997  
Proper Nomenclature Frameshift  
Proper Nomenclature c.3558dupG  

Gene FANCA  
PolyMut mutation  
Mutation 795_808del14  
Published Name 795-808del  
Amino acid change  
Exon exon 9  
Type frameshift  
Comment Frame Shift and stop codon at 274  
Source Wijker et al. Eur J Hum Genet 6: 1998  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut mutation  
Mutation Ex10_12del*  
Published Name Deletion Ex 10-12  
Amino acid change  
Exon exon 10  
Type deletion  
Comment Deletion ex 10-12 endpoints undefined. *Nomenclature should be considered temporary until breakpoints are defined.  
Source Tipping et al, PNAS, 2001  
Proper Nomenclature DelExon10-12  
Proper Nomenclature c.827-?1083+?del  

Gene FANCA  
PolyMut mutation  
Mutation Ex10_17del*  
Published Name Deletion Ex10-17  
Amino acid change  
Exon exon 10  
Type deletion  
Comment Deletion ex10-17 endpoints undefined. *Nomenclature should be considered temporary until breakpoints are defined.  
Source Tipping et al, PNAS, 2001  
Proper Nomenclature DelExon10-17  
Proper Nomenclature c.827-?_1626+?del  

Gene FANCA  
PolyMut mutation  
Mutation 1007_3066del1060  
Published Name 1007-3066del  
Amino acid change  
Exon intron 1131  
Type deletion  
Comment Previous nomenclature: ex12-31del*. Deletion now defined as extending from IVS11+555 to IVS31-1324 inclusive. Deletion appears to have arisen via recombination between two Alu elements in introns 11 and 31.  
Source Morgan et al. (1999)  
Proper Nomenclature DelExon12-31  
Proper Nomenclature c.1007_3066del  

Gene FANCA  
PolyMut mutation  
Mutation 894_1359del466  
Published Name 894-1359del  
Amino acid change  
Exon exon 11  
Type frameshift  
Comment Stop codon at 370. Deletion ex11-14.  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature delExon11-14  
Proper Nomenclature c.894_1359del  

Gene FANCA  
PolyMut mutation  
Mutation 2982_3066del85  
Published Name 2982-3066del  
Amino acid change  
Exon exon 31  
Type deletion  
Comment Deletion ex31. Stop codon at 997.  
Source Wijker et al. Eur J Hum Genet 6: 1998  
Proper Nomenclature delExon31  
Proper Nomenclature c.2982_3066del  

Gene FANCA  
PolyMut mutation  
Mutation IVS10-1G>A  
Published Name IVS10-1G>A  
Amino acid change  
Exon intron 10  
Type RNA splicing  
Comment Homozygous splice site mutation in a consanguineous Indian patient. Not present in 88 Indian control chromosomes. No RNA to test splicing effect. Complementation group unknown, but FA-A -compatible with linked markers. c.827_893del  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature  
Proper Nomenclature c.894-1G>A  

Gene FANCA  
PolyMut mutation  
Mutation IVS38-1G>C  
Published Name IVS38-1G>C  
Amino acid change  
Exon intron 38  
Type RNA splicing  
Comment Heterozygous in British patient. No RNA yet, and not present in 100 control chromosomes.  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature  
Proper Nomenclature c.3829-1G>C  

Gene FANCA  
PolyMut mutation  
Mutation 4267_4404del138  
Published Name 4267del138  
Amino acid change  
Exon exon 42  
Type deletion  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature delExon43  
Proper Nomenclature c.4261_4404del  

Gene FANCA  
PolyMut mutation  
Mutation 65G>A  
Published Name 65G>A  
Amino acid change W22X  
Exon exon 1  
Type stop codon  
Comment  
Source Levran et al., (1997)  
Proper Nomenclature p.Try22X  
Proper Nomenclature c.65G>A  

Gene FANCA  
PolyMut mutation  
Mutation 401dupC  
Published Name 401insC  
Amino acid change  
Exon exon 4  
Type frameshift  
Comment Eliminates DRA III site. Creates a frameshift that adds 45 AA after residue 134 and then creates a stop codon.  
Source Levran et al. PNAS 94:13051 (1997)  
Proper Nomenclature  
Proper Nomenclature c.401dupC  

Gene FANCA  
PolyMut mutation  
Mutation 2534T>C  
Published Name 2534T>C  
Amino acid change L845P  
Exon exon 27  
Type AA substitution  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature p.Leu845Pro  
Proper Nomenclature c.2534T>C  

Gene FANCA  
PolyMut mutation  
Mutation 2524delT  
Published Name 2524delT  
Amino acid change  
Exon exon 27  
Type frameshift  
Comment Causes a frame shift that inserts 46 A.A and then a stop codon.  
Source Levran et al. [1997]  
Proper Nomenclature Frameshift  
Proper Nomenclature c.2524delT  

Gene FANCA  
PolyMut mutation  
Mutation 1615delG  
Published Name 1615delG  
Amino acid change  
Exon exon 17  
Type frameshift  
Comment patient homozygous due to consanguinity  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature Frameshift  
Proper Nomenclature c.1615delG  

Gene FANCA  
PolyMut mutation  
Mutation 4069_4082del14  
Published Name 4069-4082del  
Amino acid change  
Exon exon 41  
Type frameshift  
Comment Creates a frameshift that adds 83 AA and a stop codon.  
Source Levran et al. [1997]  
Proper Nomenclature Frameshift  
Proper Nomenclature c.4069_4082del14  

Gene FANCA  
PolyMut mutation  
Mutation 1944delG  
Published Name 1944delG  
Amino acid change  
Exon exon 22  
Type frameshift  
Comment Creates a frameshift that adds 12 A.A and then a stop codon.  
Source Levran et al. [1997]  
Proper Nomenclature Frameshift  
Proper Nomenclature 1944delG  

Gene FANCA  
PolyMut mutation  
Mutation 3349A>G  
Published Name 3349A>G  
Amino acid change R1117G  
Exon exon 34  
Type AA substitution  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature p.Arg1117Gly  
Proper Nomenclature c.3349A>G  

Gene FANCA  
PolyMut mutation  
Mutation 3391A>G  
Published Name 3391A>G  
Amino acid change T1131A  
Exon exon 34  
Type AA substitution  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature p.Thr1131Ala  
Proper Nomenclature c.3391A>G  

Gene FANCA  
PolyMut mutation  
Mutation 3396_3399delCCAC  
Published Name 3396-3399del  
Amino acid change  
Exon exon 34  
Type frameshift  
Comment Causes an insertion of 5 new A.A and then a stop codon.  
Source Levran et al. [1997]  
Proper Nomenclature Frameshift  
Proper Nomenclature c.3396_3399delCCAC  

Gene FANCA  
PolyMut mutation  
Mutation 3188G>A  
Published Name 3188G>A  
Amino acid change W1063X  
Exon exon 32  
Type stop codon  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature p.Try1063X  
Proper Nomenclature c.3188G>A  

Gene FANCA  
PolyMut mutation  
Mutation 3091C>T  
Published Name 3091C>T  
Amino acid change Q1031X  
Exon exon 32  
Type stop codon  
Comment Eliminates PstI site.  
Source Levran et al. [1997]  
Proper Nomenclature p.Gln1031X  
Proper Nomenclature c.3091C>T  

Gene FANCA  
PolyMut mutation  
Mutation 1459dupC  
Published Name 1459-1460insC  
Amino acid change  
Exon exon 15  
Type frameshift  
Comment inserts 55 new AA and a stop codon.  
Source Levran et al. [1997]  
Proper Nomenclature Frameshift  
Proper Nomenclature c.1459dupC  

Gene FANCA  
PolyMut mutation  
Mutation 2840C>G  
Published Name 2840C>G  
Amino acid change S947X  
Exon exon 29  
Type stop codon  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature p.Ser947X  
Proper Nomenclature c.2840C>G  

Gene FANCA  
PolyMut mutation  
Mutation 862G>T  
Published Name 862G>T  
Amino acid change E288X  
Exon exon 10  
Type stop codon  
Comment Found in an unclassified British Caucasian patient (cell-line BD0220), who is homozygous for it, and each parent is heterozygous and as far as we know unrelated (surprising to find a homozygote). Detected by chemical cleavage, and confirmed by direct sequencing and restriction enzyme analysis (loss of HinfI site in exon 10). Diagnosis age 8 years, abnormal thumbs, bilateral deafness. Absent in one unaffected family member and one control.  
Source Morgan et al, American Journal of Human Genetics, 1999  
Proper Nomenclature p.Glu288X  
Proper Nomenclature c.862G>T  

Gene FANCA  
PolyMut mutation  
Mutation 597_3066del2470  
Published Name 597-3066del  
Amino acid change  
Exon exon 7  
Type deletion  
Comment Homozygous deletion in Indian consanguineous patient  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature DelExon7-31  
Proper Nomenclature c.577_3066del  

Gene FANCA  
PolyMut mutation  
Mutation 2167_2169delCTG  
Published Name 2167-2169delCTG  
Amino acid change 723delL  
Exon exon 24  
Type deletion  
Comment In frame deletion of Leu at position 723, found in British patient  
Source Levran et al. [1997]  
Proper Nomenclature p.Leu723del  
Proper Nomenclature c.2167_2169delCTG  

Gene FANCA  
PolyMut mutation  
Mutation 3329A>C  
Published Name 3329A>C  
Amino acid change H1110P  
Exon exon 33  
Type AA substitution  
Comment Homozygous change found in Egyptian patient, not found in 42 Middle Eastern control chromosomes  
Source Morgan et al., American Jouranl of Human Genetics, 1999  
Proper Nomenclature p.His1110Pro  
Proper Nomenclature c.3329A>C  

Gene FANCA  
PolyMut mutation  
Mutation 3398delA  
Published Name 3398delA  
Amino acid change  
Exon exon 34  
Type frameshift  
Comment Premature stop codon at 1139; mutation found heterozygously in several Afrikaner patients with conserved haplotype Type III haplotype . Other Afrikaner founder alleles:- Type I: 1007-3066del Type II: 894-1626del Type IV: 795-808del.  
Source Tipping et al., PNAS, 2001  
Proper Nomenclature Frameshift  
Proper Nomenclature c.3398delA  

Gene FANCA  
PolyMut mutation  
Mutation 3403_3405delTTC  
Published Name 3403-3405delTTC  
Amino acid change 1135delF  
Exon exon 34  
Type deletion  
Comment In frame deletion of Phe, found in Irish patient  
Source Morgan et al., American Journal of Human Genetics., 1999  
Proper Nomenclature p.Phe1135del  
Proper Nomenclature c.3403_3405delTTC  

Gene FANCA  
PolyMut mutation  
Mutation 4015delC  
Published Name 4015delC  
Amino acid change  
Exon exon 41  
Type frameshift  
Comment Premature stop codon at 1362, found in British patient  
Source Morgan et al., American Journal of Human Genetics, 1999  
Proper Nomenclature Frameshift  
Proper Nomenclature c.4015delC  

Gene FANCA  
PolyMut mutation  
Mutation 3884T>A  
Published Name 3884T>A  
Amino acid change L1295X  
Exon exon 39  
Type stop codon  
Comment  
Source Levran et al., (1997)  
Proper Nomenclature p.Leu1295X  
Proper Nomenclature c.3884T>A  

Gene FANCA  
PolyMut mutation  
Mutation 2066delG  
Published Name 2066delG  
Amino acid change  
Exon exon 23  
Type frameshift  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature Frameshift  
Proper Nomenclature c.2066delG  

Gene FANCA  
PolyMut mutation  
Mutation 3904T>C  
Published Name 3904T>C  
Amino acid change W1032R  
Exon exon 39  
Type AA substitution  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature p.Trp1032Arg  
Proper Nomenclature c.3904T>C  

Gene FANCA  
PolyMut mutation  
Mutation IVS15-1G>T  
Published Name IVS15-1G>T  
Amino acid change  
Exon intron 15  
Type RNA splicing  
Comment Found in French patient, RT-PCR shows use of a cryptic splice site 90 bases upstream and incorporation of that intron sequence into the transcript.  
Source Morgan et al, American Journal of Human Genetics, 1999, Levran et al., 2004  
Proper Nomenclature  
Proper Nomenclature c.1471-1G>T  

Gene FANCA  
PolyMut mutation  
Mutation 3130C>T  
Published Name 3130C>T  
Amino acid change Q1044X  
Exon exon 32  
Type stop codon  
Comment  
Source Levran et al [2004]  
Proper Nomenclature p.Gln1044X  
Proper Nomenclature c.3130C>T  

Gene FANCA  
PolyMut mutation  
Mutation 3813dupA  
Published Name c.3813dupA  
Amino acid change  
Exon exon 38  
Type frameshift  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature Frameshift  
Proper Nomenclature c.3813dupA  

Gene FANCA  
PolyMut mutation  
Mutation 4017_4021delCTCCT  
Published Name c.4017_4021delCTCCT  
Amino acid change  
Exon exon 41  
Type frameshift  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature Frameshift  
Proper Nomenclature c.4017_4021delCTCCT  

Gene FANCA  
PolyMut mutation  
Mutation 2303T>C  
Published Name c.2303T>C  
Amino acid change L768P  
Exon exon 25  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Leu768Pro  
Proper Nomenclature c.2303T>C  

Gene FANCA  
PolyMut mutation  
Mutation 2107C>T  
Published Name 2107C>T  
Amino acid change Q703X  
Exon exon 23  
Type stop codon  
Comment Homozygous change found in a consanguineous patient of Lebanese descent.  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Gln703X  
Proper Nomenclature c.2107C>T  

Gene FANCA  
PolyMut mutation  
Mutation 2495_2497delTCT  
Published Name 2495-2497del  
Amino acid change 832delF  
Exon exon 26  
Type deletion  
Comment Homozygous in-frame deletion found in a consanguineous Indian patient.  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Phe832del  
Proper Nomenclature c.2495_2497delTCT  

Gene FANCA  
PolyMut mutation  
Mutation 3629dupT  
Published Name 3629-3630insT  
Amino acid change  
Exon exon 37  
Type frameshift  
Comment Insertion of a T at the end of a string of 3 T s. Detected in a consanguineous Bangladeshi patient.  
Source Morgan et al., American Journal of Human Genetics, 1999  
Proper Nomenclature Frameshift  
Proper Nomenclature c.3629dupT  

Gene FANCA  
PolyMut mutation  
Mutation 1_2981del2981  
Published Name 1-2981del  
Amino acid change  
Exon exon 1  
Type deletion  
Comment  
Source Wijker et al. Eur J Hum Genet 6: (1999)  
Proper Nomenclature DelExon1-30  
Proper Nomenclature c.-32-?2981del  

Gene FANCA  
PolyMut mutation  
Mutation IVS6-2A>G  
Published Name IVS6-2A>G  
Amino acid change  
Exon intron 6  
Type deletion  
Comment deletion of 13AA  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature  
Proper Nomenclature c.597-2A>G  

Gene FANCA  
PolyMut mutation  
Mutation 827_1225del399  
Published Name 827-1225del  
Amino acid change  
Exon exon 10  
Type deletion  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature delexon10-13  
Proper Nomenclature c.827_1225del  

Gene FANCA  
PolyMut mutation  
Mutation 856C>T  
Published Name 856C>T  
Amino acid change Q286X  
Exon exon 10  
Type stop codon  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Gln286X  
Proper Nomenclature c.856C>T  

Gene FANCA  
PolyMut mutation  
Mutation 1164_1165delAG  
Published Name 1164-1165del  
Amino acid change  
Exon exon 13  
Type frameshift  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature  
Proper Nomenclature c.1164_1165delAG  

Gene FANCA  
PolyMut mutation  
Mutation 1792G>A  
Published Name 1792G>A  
Amino acid change D598N  
Exon exon 20  
Type AA substitution  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Asp598Asn  
Proper Nomenclature c.1792G>A  

Gene FANCA  
PolyMut mutation  
Mutation 2574C>G  
Published Name 2574C>G  
Amino acid change S858R  
Exon exon 27  
Type AA substitution  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Ser858Arg  
Proper Nomenclature c.2574C>G  

Gene FANCA  
PolyMut mutation  
Mutation 2779_3348del570  
Published Name 2779-3348del  
Amino acid change  
Exon exon 29  
Type deletion  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature DelExon29-33  
Proper Nomenclature c.2779_3348del  

Gene FANCA  
PolyMut mutation  
Mutation 3061_3154del94  
Published Name 3061-3154del  
Amino acid change  
Exon exon 31  
Type frameshift  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature delExon31-32  
Proper Nomenclature c.3061_3154del  

Gene FANCA  
PolyMut mutation  
Mutation 3163C>T  
Published Name 3163C>T  
Amino acid change R1055W  
Exon exon 32  
Type AA substitution  
Comment found in a consanguineous Indian pedigree; homozygous; putative missense mutation, not seen in 100 control chomosomes.  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Arg1055Try  
Proper Nomenclature c.3163C>T  

Gene FANCA  
PolyMut mutation  
Mutation 4010delG+18  
Published Name 4010delG+18  
Amino acid change  
Exon exon 40  
Type exon skip  
Comment 19 bp deletion, starting at nt 4010 of the cDNA and including 18 bp of intron 40.  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature  
Proper Nomenclature c.4010delG+18  

Gene FANCA  
PolyMut mutation  
Mutation IVS40+(1-18)del  
Published Name IVS40+1-18del  
Amino acid change  
Exon intron 40  
Type exon skip  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature  
Proper Nomenclature c.4010+(1_18)del  

Gene FANCA  
PolyMut mutation  
Mutation 523_3066del2544  
Published Name  
Amino acid change  
Exon exon 5  
Type deletion  
Comment  
Source Auerbach Lab  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut mutation  
Mutation 890_893delGCTG  
Published Name 890-893del  
Amino acid change  
Exon exon 10  
Type frameshift  
Comment  
Source Tamary et al. [2000]  
Proper Nomenclature  
Proper Nomenclature c.890_893delGCTG  

Gene FANCA  
PolyMut mutation  
Mutation 1360_1626del270  
Published Name 1360-1626del  
Amino acid change  
Exon exon 15  
Type deletion  
Comment Deletion of exons 15-17  
Source Morgan et al. (1999)  
Proper Nomenclature DelExon15-17  
Proper Nomenclature c.1360_1626del  

Gene FANCA  
PolyMut mutation  
Mutation 2172dupG  
Published Name 2172-2173insG  
Amino acid change  
Exon exon 24  
Type frameshift  
Comment  
Source H. Tamary et al., Brit J of Hematology 2000  
Proper Nomenclature Frameshift  
Proper Nomenclature c.2172dupG  

Gene FANCA  
PolyMut mutation  
Mutation 4275delT  
Published Name 4275delT  
Amino acid change  
Exon exon 43  
Type frameshift  
Comment  
Source H.Tamary et al. Brit. J of Hematology 2000.  
Proper Nomenclature Frameshift  
Proper Nomenclature c.4275delT  

Gene FANCA  
PolyMut mutation  
Mutation 1A>G  
Published Name 1A>G  
Amino acid change M1V  
Exon exon 1  
Type AA substitution  
Comment  
Source Tachibana A., Human Mutation 1999.  
Proper Nomenclature p.M1?  
Proper Nomenclature c.1A>G  

Gene FANCA  
PolyMut mutation  
Mutation IVS26+134A>G  
Published Name IVS26+134A>G  
Amino acid change  
Exon exon 26  
Type frameshift  
Comment  
Source Tachibana A., Human Mutation 1999.  
Proper Nomenclature  
Proper Nomenclature c.2504+134A>G  

Gene FANCA  
PolyMut mutation  
Mutation 2546delC  
Published Name 2546delC  
Amino acid change  
Exon exon 27  
Type frameshift  
Comment  
Source Tachibana et al., Human Mutation 1999.  
Proper Nomenclature Frameshift  
Proper Nomenclature c.2546delC  

Gene FANCA  
PolyMut mutation  
Mutation Ex 24-28del  
Published Name Exon 24-28del  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Tachibana et al, Human Mutation 1999  
Proper Nomenclature delExon24-28  
Proper Nomenclature c.2152_2778del  

Gene FANCA  
PolyMut mutation  
Mutation IVS27-1G>A  
Published Name IVS27-1G>A  
Amino acid change  
Exon intron 27  
Type deletion  
Comment 868_869delFQ; In Frame deletion  
Source Tachibana A., Human Mutation, 1999  
Proper Nomenclature  
Proper Nomenclature c.2602-1G>A  

Gene FANCA  
PolyMut mutation  
Mutation IVS27-2A>T  
Published Name IVS27-2A>T  
Amino acid change  
Exon intron 27  
Type deletion  
Comment Inframe deletion  
Source Tachibana et al., Human Mutations, 1999  
Proper Nomenclature  
Proper Nomenclature c.2606-2A>T  

Gene FANCA  
PolyMut mutation  
Mutation Exon 38del  
Published Name Exon 38del  
Amino acid change  
Exon exon 38  
Type exon skip  
Comment Inframe deletion  
Source Tachibana et al., Human Mutations, 1999.  
Proper Nomenclature delExon38  
Proper Nomenclature c.3766_3828del  

Gene FANCA  
PolyMut mutation  
Mutation IVS41-2A>G  
Published Name IVS41-2A>G  
Amino acid change  
Exon intron 41  
Type deletion  
Comment 1390_1420del in AA product. Inframe deletion  
Source Tachibana et al., Human Mutation 1999.  
Proper Nomenclature  
Proper Nomenclature c.4168-2A>G  

Gene FANCA  
PolyMut mutation  
Mutation 3786C>G  
Published Name 3786C>G  
Amino acid change F1262L  
Exon exon 38  
Type AA substitution  
Comment  
Source Morgan et al., American Journal of Human Genetics, 1999  
Proper Nomenclature p.Phe1262Leu  
Proper Nomenclature c.3786C>G  

Gene FANCA  
PolyMut mutation  
Mutation 3971C>T  
Published Name 3971C>T  
Amino acid change P1324L  
Exon exon 40  
Type AA substitution  
Comment  
Source Morgan et al., American Journal of Human Genetics, 1999  
Proper Nomenclature p.Pro1324Leu  
Proper Nomenclature c.3971C>T  

Gene FANCA  
PolyMut mutation  
Mutation 1471_1826del355  
Published Name 1471-1826del  
Amino acid change  
Exon exon 16  
Type deletion  
Comment Deletion of exons 16-20  
Source Morgan et al., American Journal of Human Genetics, 1999  
Proper Nomenclature DelExon16-20  
Proper Nomenclature c.1471_1826del  

Gene FANCA  
PolyMut mutation  
Mutation 1827_2778del951  
Published Name 1827-2778del  
Amino acid change  
Exon exon 21  
Type deletion  
Comment Deletion of exon 21-28  
Source Morgan et al., American Journal of Human Genetics, 1999  
Proper Nomenclature del Exon21-28  
Proper Nomenclature c.1827_2778del  

Gene FANCA  
PolyMut mutation  
Mutation 4080G>C  
Published Name 4080G>C  
Amino acid change M1360I  
Exon exon 41  
Type AA substitution  
Comment  
Source Morgan et al, American Journal of Human Genetics, 1999  
Proper Nomenclature p.Met1360Ile  
Proper Nomenclature c.4080G>C  

Gene FANCA  
PolyMut mutation  
Mutation 523_1359del836  
Published Name 523-1359del  
Amino acid change  
Exon exon 6  
Type deletion  
Comment Deletion of exons 6-14  
Source Morgan et al, American Journal of Human Genetics, 1999  
Proper Nomenclature DelExon6-14  
Proper Nomenclature c.523_1359del836  

Gene FANCA  
PolyMut mutation  
Mutation 597_1826del1229  
Published Name 597-1826del  
Amino acid change  
Exon exon 7  
Type deletion  
Comment Deletion of exons 7-20  
Source Morgan et al, American Journal of Human Genetics, 1999  
Proper Nomenclature DelExon7-20  
Proper Nomenclature c.597_1826del  

Gene FANCA  
PolyMut mutation  
Mutation 2779_3066del287  
Published Name 2779-3066del  
Amino acid change  
Exon exon 29  
Type deletion  
Comment Deletion of exons 29-31  
Source Morgan et al, American Journal of Human Genetics, 1999  
Proper Nomenclature DelExon29-31  
Proper Nomenclature c.2779_3066del  

Gene FANCA  
PolyMut mutation  
Mutation *2982_4365del1383  
Published Name *2982-4365del  
Amino acid change  
Exon exon 31  
Type deletion  
Comment Deletion of exons *31-43. The endpoint is undefined at 5' end.  
Source Morgan et al, American Journal of Human Genetics, 1999  
Proper Nomenclature delExon31-43  
Proper Nomenclature c.2982-?_4365del  

Gene FANCA  
PolyMut mutation  
Mutation IVS16+3A>C  
Published Name IVS16+3A>C  
Amino acid change  
Exon intron 16  
Type exon skip  
Comment  
Source Morgan et al, American Journal of Human Genetics, 1999  
Proper Nomenclature  
Proper Nomenclature c.1566+3A>G  

Gene FANCA  
PolyMut mutation  
Mutation *5'UTR_522*del  
Published Name *5'UTR-522*del  
Amino acid change  
Exon  
Type deletion  
Comment Both endpoints are undefined  
Source Morgan et al, American Journal of Human Genetics, 1999  
Proper Nomenclature  
Proper Nomenclature -32-?_522+?del  

Gene FANCA  
PolyMut mutation  
Mutation *427-522*del  
Published Name *427-522*del  
Amino acid change  
Exon exon 5  
Type deletion  
Comment Endpoints on both ends are undefined  
Source Morgan et al., American Journal of Human Genetics, 1999  
Proper Nomenclature DelExon5  
Proper Nomenclature c.427-?_522+?del  

Gene FANCA  
PolyMut mutation  
Mutation *5'UTR-1900*del  
Published Name *5'UTR-1900*del  
Amino acid change  
Exon  
Type deletion  
Comment Both endpoints are undefined.  
Source Mathew C.G. et al., American Journal of Human Genetics, 1999  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut mutation  
Mutation *5'UTR-3066del  
Published Name *5'UTR-3066del  
Amino acid change  
Exon  
Type deletion  
Comment 5' endpoint is undefined  
Source Morgan et al, American Journal of Human Genetics, 1999  
Proper Nomenclature  
Proper Nomenclature c.-32-?_3066del  

Gene FANCA  
PolyMut mutation  
Mutation IVS31+1G>A  
Published Name c.3066+1G>A  
Amino acid change  
Exon intron 31  
Type RNA splicing  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature c.3066+1G>A  

Gene FANCA  
PolyMut mutation  
Mutation IVS10-2A>G  
Published Name c.894-2A>G  
Amino acid change  
Exon intron 10  
Type RNA splicing  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature c.894-2A>G  

Gene FANCA  
PolyMut mutation  
Mutation 1693delT  
Published Name 1693delT  
Amino acid change  
Exon exon 17  
Type frameshift  
Comment  
Source Bouchlaka et al., J. of Human Genetics, 2003  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut mutation  
Mutation 1751_1754delTCCC  
Published Name 1751-1754del  
Amino acid change  
Exon exon 19  
Type deletion  
Comment  
Source Bouchlaka et al., J. of Human Genetics, 2003  
Proper Nomenclature Frameshift  
Proper Nomenclature c.1751_1754delTCCC  

Gene FANCA  
PolyMut mutation  
Mutation 513G>A  
Published Name 513G>A  
Amino acid change W171X  
Exon exon 5  
Type stop codon  
Comment  
Source Bouchlaka et al., J. of Human Genetics, 2003  
Proper Nomenclature p.Try171X  
Proper Nomenclature c.513G>A  

Gene FANCA  
PolyMut mutation  
Mutation IVS24+166A>G  
Published Name IVS24+166A>G  
Amino acid change  
Exon intron 24  
Type insertion  
Comment Insertion of 166bp in cDNA between exons 24 and 25 creating a stop codon 40bp downstream from tail of exon 24. This results in a truncated protein of 835aa.  
Source Bouchlaka et al., J. of Human Genetics, 2003  
Proper Nomenclature  
Proper Nomenclature c.2222+166A>G  

Gene FANCA  
PolyMut mutation  
Mutation c.2T>C  
Published Name 2T>C  
Amino acid change M1T  
Exon exon 1  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.M?  
Proper Nomenclature c.2T>C  

Gene FANCA  
PolyMut mutation  
Mutation 44_69del26  
Published Name c.44_69del26  
Amino acid change  
Exon exon 1  
Type deletion  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature c.44_del26  

Gene FANCA  
PolyMut mutation  
Mutation 66G>A  
Published Name 66G>A  
Amino acid change W22X  
Exon exon 1  
Type stop codon  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Try22X  
Proper Nomenclature c.66G>A  

Gene FANCA  
PolyMut mutation  
Mutation 100A>T  
Published Name 100A>T  
Amino acid change K34X  
Exon exon 2  
Type stop codon  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Lys34X  
Proper Nomenclature c.100A>T  

Gene FANCA  
PolyMut mutation  
Mutation 416_417delTG  
Published Name c.416_417delTG  
Amino acid change  
Exon exon 4  
Type frameshift  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature c.416_417delTG  

Gene FANCA  
PolyMut mutation  
Mutation 811C>T  
Published Name c.811C>T  
Amino acid change Q271X  
Exon exon 9  
Type stop codon  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Gln271X  
Proper Nomenclature c.811C>T  

Gene FANCA  
PolyMut mutation  
Mutation 1034_1035delAG  
Published Name c.1034_1035delAG  
Amino acid change  
Exon exon 12  
Type frameshift  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature c.1034_1035delAG  

Gene FANCA  
PolyMut mutation  
Mutation IVS13(-6)_(-2)del  
Published Name c.1226(-6)_(-2)del  
Amino acid change  
Exon intron 13  
Type unknown  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature c.1226(-6)_(-2)del  

Gene FANCA  
PolyMut mutation  
Mutation IVS19-7del10  
Published Name IVS19-7del10  
Amino acid change  
Exon intron 19  
Type unknown  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature c.1777_7del10  

Gene FANCA  
PolyMut mutation  
Mutation IVS22-1G>T  
Published Name IVS22-1G>T  
Amino acid change  
Exon intron 22  
Type RNA splicing  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature c.2015-1G>T  

Gene FANCA  
PolyMut mutation  
Mutation 2051T>C  
Published Name c.2051T>C  
Amino acid change L684P  
Exon exon 23  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Leu684Pro  
Proper Nomenclature c.2051T>C  

Gene FANCA  
PolyMut mutation  
Mutation 2290C>T  
Published Name c.2290C>T  
Amino acid change R764W  
Exon exon 25  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Arg764Try  
Proper Nomenclature c.2290C>T  

Gene FANCA  
PolyMut mutation  
Mutation 2533_2536delCTCT  
Published Name c.2533_2536delCTCT  
Amino acid change  
Exon exon 27  
Type frameshift  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature Frameshift  
Proper Nomenclature c.2533_2536delCTCT  

Gene FANCA  
PolyMut mutation  
Mutation 2604_2609delTCAGTT  
Published Name c.2604_2609delTCAGTT  
Amino acid change  
Exon exon 28  
Type frameshift  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature Frameshift  
Proper Nomenclature c.2604_2609delTCAG  

Gene FANCA  
PolyMut mutation  
Mutation 2606A>C  
Published Name c.2606A>C  
Amino acid change Q869P  
Exon exon 28  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Gln869Pro  
Proper Nomenclature c.2606A>C  

Gene FANCA  
PolyMut mutation  
Mutation 2730_2731delCT  
Published Name c.2730_2731delCT  
Amino acid change  
Exon exon 28  
Type frameshift  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature Frameshift  
Proper Nomenclature c.2730_2731delCT  

Gene FANCA  
PolyMut mutation  
Mutation 2738A>C  
Published Name c.2738A>C  
Amino acid change H913P  
Exon exon 28  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.His913Pro  
Proper Nomenclature c.2738A>C  

Gene FANCA  
PolyMut mutation  
Mutation 2807A>G  
Published Name c.2807A>G  
Amino acid change E936G  
Exon exon 29  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Glu936Gly  
Proper Nomenclature c.2807A>G  

Gene FANCA  
PolyMut mutation  
Mutation 2815_2816ins19  
Published Name 2815_1816ins19  
Amino acid change  
Exon exon 29  
Type insertion  
Comment  
Source Levran et al. (1997)  
Proper Nomenclature Frameshift  
Proper Nomenclature c.2815_2816ins19  

Gene FANCA  
PolyMut mutation  
Mutation 2851C>T  
Published Name c.2851C>T  
Amino acid change R951W  
Exon exon 29  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Arg951Trp  
Proper Nomenclature c.2851C>T  

Gene FANCA  
PolyMut mutation  
Mutation IVS29-2A>C  
Published Name c.2853-2A>C  
Amino acid change  
Exon intron 29  
Type RNA splicing  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature c.2853-2A>C  

Gene FANCA  
PolyMut mutation  
Mutation IVS32-1G>A  
Published Name IVS32-1G>A  
Amino acid change  
Exon intron 32  
Type RNA splicing  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature c.3240-1G>A  

Gene FANCA  
PolyMut mutation  
Mutation 3288G>C  
Published Name c.3288G>C  
Amino acid change Q1096H  
Exon exon 33  
Type AA substitution  
Comment  
Source Levran et al [2004]  
Proper Nomenclature p.Gln1096His  
Proper Nomenclature c.3288G>C  

Gene FANCA  
PolyMut mutation  
Mutation 3558dupG  
Published Name 3558dupG  
Amino acid change  
Exon exon 36  
Type frameshift  
Comment  
Source Savino et al [1997]  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut mutation  
Mutation 3592C>T  
Published Name 3592C>T  
Amino acid change Q1198X  
Exon exon 36  
Type stop codon  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Gln1198X  
Proper Nomenclature c.3592C>T  

Gene FANCA  
PolyMut mutation  
Mutation 3703C>G  
Published Name c.3703C>G  
Amino acid change Q1235E  
Exon exon 37  
Type AA substitution  
Comment  
Source Levran et al [2004]  
Proper Nomenclature p.Gln1235Glu  
Proper Nomenclature c.3703G>C  

Gene FANCA  
PolyMut mutation  
Mutation 3846_3856del11  
Published Name 3846_3856del11  
Amino acid change  
Exon exon 39  
Type deletion  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature Frameshift  
Proper Nomenclature c.3846_3856del11  

Gene FANCA  
PolyMut mutation  
Mutation 4195G>C  
Published Name 4195G>C  
Amino acid change A1399P  
Exon exon 42  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Ala1399Pro  
Proper Nomenclature c.4195G>C  

Gene FANCA  
PolyMut mutation  
Mutation 4198C>T  
Published Name 4198C>T  
Amino acid change R1400C  
Exon exon 42  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Arg1400Cys  
Proper Nomenclature c.4198C>T  

Gene FANCA  
PolyMut mutation  
Mutation IVS42(-19)_(-12)del  
Published Name c.4261(-19)_(-12)del  
Amino acid change  
Exon intron 42  
Type unknown  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature c.4261(-19)_(-12)del  

Gene FANCA  
PolyMut mutation  
Mutation >  
Published Name  
Amino acid change  
Exon  
Type AA substitution  
Comment  
Source  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut mutation  
Mutation 3239G>T  
Published Name c.3239G>T  
Amino acid change R1080L  
Exon exon 32  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Arg1080Leu  
Proper Nomenclature c.3239G>T  

Gene FANCA  
PolyMut mutation  
Mutation 2026C>T  
Published Name c.2026C>T  
Amino acid change Q676X  
Exon exon 23  
Type stop codon  
Comment  
Source Levran et al [2004]  
Proper Nomenclature p.Gln676X  
Proper Nomenclature c.2026C>T  

Gene FANCA  
PolyMut mutation  
Mutation 2678G>A  
Published Name c.2678G>A  
Amino acid change W893X  
Exon exon 28  
Type stop codon  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature Try893X  
Proper Nomenclature c.2678G>A  

Gene FANCA  
PolyMut mutation  
Mutation 2708G>A  
Published Name c.2708G>A  
Amino acid change W903X  
Exon exon 28  
Type stop codon  
Comment  
Source Levran et al [2004]  
Proper Nomenclature p.Try903X  
Proper Nomenclature c.2708G>A  

Gene FANCA  
PolyMut mutation  
Mutation 2806G>A  
Published Name c.2806G>A  
Amino acid change E936K  
Exon exon 29  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Glu936Lys  
Proper Nomenclature c.2806G>A  

Gene FANCA  
PolyMut mutation  
Mutation IVS2-1G>T  
Published Name IVS2-1G>T  
Amino acid change  
Exon intron 2  
Type RNA splicing  
Comment  
Source Savino et al. [2003]  
Proper Nomenclature  
Proper Nomenclature c.190-1G>T  

Gene FANCA  
PolyMut mutation  
Mutation IVS3+3A>C  
Published Name IVS3+3A>C  
Amino acid change  
Exon intron 3  
Type RNA splicing  
Comment  
Source Savino et al. [2003]  
Proper Nomenclature  
Proper Nomenclature c.283+3A>C  

Gene FANCA  
PolyMut mutation  
Mutation c.709+5G>T  
Published Name IVS7+5G>T  
Amino acid change  
Exon intron 7  
Type RNA splicing  
Comment  
Source Lo Ten Foe et al [1996]  
Proper Nomenclature  
Proper Nomenclature IVS7+5G>T  

Gene FANCA  
PolyMut mutation  
Mutation IVS9-1G>T  
Published Name IVS9-1G>T  
Amino acid change  
Exon intron 9  
Type RNA splicing  
Comment  
Source Rischewski et al. [2001].  
Proper Nomenclature  
Proper Nomenclature c.827-1G>T  

Gene FANCA  
PolyMut mutation  
Mutation IVS10-2A>G  
Published Name IVS10-2A>G  
Amino acid change  
Exon intron 10  
Type RNA splicing  
Comment  
Source Levran et al 2004 (Pending)  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut mutation  
Mutation IVS16-20A>G  
Published Name IVS16-20A>G  
Amino acid change  
Exon intron 16  
Type RNA splicing  
Comment  
Source Savino et al. [2003]  
Proper Nomenclature  
Proper Nomenclature c.1567-20A>G  

Gene FANCA  
PolyMut mutation  
Mutation IVS16-2A>G  
Published Name IVS16-2A>G  
Amino acid change  
Exon intron 16  
Type RNA splicing  
Comment  
Source Morgan et al [1999]  
Proper Nomenclature  
Proper Nomenclature c.1567-2A>G  

Gene FANCA  
PolyMut mutation  
Mutation IVS26+2T>C  
Published Name IVS26+2T>C  
Amino acid change  
Exon intron 26  
Type RNA splicing  
Comment  
Source Savino et al. [2003]  
Proper Nomenclature  
Proper Nomenclature c.2504+2T>C  

Gene FANCA  
PolyMut mutation  
Mutation 1606delT  
Published Name 1606delT  
Amino acid change  
Exon exon 17  
Type frameshift  
Comment  
Source Boucklaka et al. [2003]  
Proper Nomenclature  
Proper Nomenclature c.1606delT  

Gene FANCA  
PolyMut mutation  
Mutation 3639delT  
Published Name 3693delT  
Amino acid change  
Exon exon 37  
Type frameshift  
Comment  
Source Balta et al. [2000]  
Proper Nomenclature Frameshift  
Proper Nomenclature c.3639delT  

Gene FANCA  
PolyMut mutation  
Mutation 3762_3763insAG  
Published Name 3762_3763insAG  
Amino acid change  
Exon exon 37  
Type frameshift  
Comment  
Source Savino et al [2003]  
Proper Nomenclature Frameshift  
Proper Nomenclature c.3762_3763insAG  

Gene FANCA  
PolyMut mutation  
Mutation Del Exon 1  
Published Name c.-32-?_79+?del  
Amino acid change  
Exon exon 1  
Type exon skip  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature Del Exon 1  
Proper Nomenclature c.-32-?_79+?del  

Gene FANCA  
PolyMut mutation  
Mutation Del Exon 1-6  
Published Name c.-32-?_596+?del  
Amino acid change  
Exon  
Type exon skip  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature Del Exon1-6  
Proper Nomenclature c.-32-?_596+?del  

Gene FANCA  
PolyMut mutation  
Mutation Del Exon 1-43  
Published Name Del Ex 1-43  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Centra et al [1988]  
Proper Nomenclature DelExon1-43  
Proper Nomenclature c.-32-?_5481del  

Gene FANCA  
PolyMut mutation  
Mutation Del Exon 6-31  
Published Name Del Ex 6-31  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Tamary et al [1998]  
Proper Nomenclature DelExon6-31  
Proper Nomenclature c.523_3066del  

Gene FANCA  
PolyMut mutation  
Mutation Del Exon 8-42  
Published Name Del Ex 8-42  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature delExon8-42  
Proper Nomenclature c.710-?4260+?del  

Gene FANCA  
PolyMut mutation  
Mutation Del Exon 11-17  
Published Name Del Ex 11-17  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Tipping et al. [2001]  
Proper Nomenclature DelExon11-17  
Proper Nomenclature c.894_1626del  

Gene FANCA  
PolyMut mutation  
Mutation Del Exon 13  
Published Name c.1084-?1225+?del  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Levran 2004 (Pending)  
Proper Nomenclature delExon13  
Proper Nomenclature c.1084-?1225+?del  

Gene FANCA  
PolyMut mutation  
Mutation Del Exon 16  
Published Name c.1471-?_1566+?del  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Levran 2004 (Pending)  
Proper Nomenclature DelExon16  
Proper Nomenclature c.1471-?_1566+?del  

Gene FANCA  
PolyMut mutation  
Mutation c.3935-?_4260+?del  
Published Name c.3935-?_4260+?del  
Amino acid change  
Exon exon  
Type exon skip  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature delExon40-42  
Proper Nomenclature c.3935-?_4260+?del  

Gene FANCA  
PolyMut mutation  
Mutation Del Exon 16-17  
Published Name Del Ex 16-17  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Levran et al 1997  
Proper Nomenclature DelExon16-17  
Proper Nomenclature c.1471_1626del  

Gene FANCA  
PolyMut mutation  
Mutation Del Exon 16-17  
Published Name Del Ex 16-17  
Amino acid change  
Exon  
Type deletion  
Comment  
Source FAB Consortium 1996.  
Proper Nomenclature DelExon16-17  
Proper Nomenclature c.1471_1626del  

Gene FANCA  
PolyMut mutation  
Mutation Del Exon 16-22  
Published Name c.1471-?_2014+?del  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Levran et al 2004 (pending)  
Proper Nomenclature DelExon 16-22  
Proper Nomenclature c.1471-?_2014+?del  

Gene FANCA  
PolyMut mutation  
Mutation Del Exon 16-23  
Published Name c.1471-?_2151+?del  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Levran 2004 (Pending)  
Proper Nomenclature delExon16-23  
Proper Nomenclature c.1471-?_2151+?del  

Gene FANCA  
PolyMut mutation  
Mutation Del Exon 16-26  
Published Name c.1471-?_2504+?del  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature Delexon16-26  
Proper Nomenclature c.1471-?_2504+?del  

Gene FANCA  
PolyMut mutation  
Mutation  
Published Name  
Amino acid change  
Exon  
Type AA substitution  
Comment  
Source  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut mutation  
Mutation c.-32-?_1900del  
Published Name  
Amino acid change  
Exon exon  
Type exon skip  
Comment  
Source Morgan et al. [1999]  
Proper Nomenclature 5'UTR-21  
Proper Nomenclature c.-32-?_1900del  

Gene FANCA  
PolyMut mutation  
Mutation c.427-?_1006+?del  
Published Name  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Callen et al. [2004]  
Proper Nomenclature DelExon5-11  
Proper Nomenclature c.427-?_1006+?del  

Gene FANCA  
PolyMut mutation  
Mutation c.427-?_3066+?del  
Published Name  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Callen et al. [2004]  
Proper Nomenclature DelExon5-31  
Proper Nomenclature c.427-?_3066+?del  

Gene FANCA  
PolyMut mutation  
Mutation c.1827-?_1900+?del  
Published Name  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Callen et al. [2004]  
Proper Nomenclature delExon21  
Proper Nomenclature c.1827-?_1900+?del  

Gene FANCA  
PolyMut mutation  
Mutation c.1567-?_3066+?del  
Published Name  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Callen et al. [2004]  
Proper Nomenclature DelExon17-31  
Proper Nomenclature c.1567-?_3066+?del  

Gene FANCA  
PolyMut mutation  
Mutation c.1471-?_4010+?del  
Published Name c.1471-?_4010+?del  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature DelExon16-40  
Proper Nomenclature c.1471-?_4010+?del  

Gene FANCA  
PolyMut mutation  
Mutation c.1777-?_4010+?del  
Published Name  
Amino acid change  
Exon  
Type deletion  
Comment  
Source  
Proper Nomenclature DelExon20-40  
Proper Nomenclature c.1777-?_4010+?del  

Gene FANCA  
PolyMut mutation  
Mutation c.1901-?_2014+?del  
Published Name c.1901-?_2014+?del  
Amino acid change  
Exon  
Type deletion  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature DelExon22  
Proper Nomenclature c.1901-?_2014+?del  

Gene FANCA  
PolyMut mutation  
Mutation c.1901-?_2981+?del  
Published Name c.1901-?_2981+?del  
Amino acid change  
Exon  
Type deletion  
Comment Deletion of exon 22-30  
Source Levran et al. [2004]  
Proper Nomenclature DelExon22-30  
Proper Nomenclature c.1901-?_2981+?del  

Gene FANCA  
PolyMut mutation  
Mutation c.3240-?_3828+?del  
Published Name c.3240-?_3828+?del  
Amino acid change  
Exon  
Type deletion  
Comment Deletion Exon 33-38  
Source Levran et al. [2004]  
Proper Nomenclature DelExon33-38  
Proper Nomenclature c.3240-?_3828+?del  

Gene FANCA  
PolyMut mutation  
Mutation c.3240-?_4010+?del  
Published Name c.3240-?_4010+?del  
Amino acid change  
Exon  
Type deletion  
Comment Deletion of 33-40  
Source Levran et al. [2004]  
Proper Nomenclature DelExon33-40  
Proper Nomenclature c.3240-?_4010+?del  

Gene FANCA  
PolyMut mutation  
Mutation c.3766-?_4010+?del  
Published Name c.3766-?_4010+?del  
Amino acid change  
Exon  
Type deletion  
Comment Deletion of exons 38-40  
Source Levran et al. [2004]  
Proper Nomenclature DelExon38-40  
Proper Nomenclature c.3766-?_4010+?del