Page 68 - 2019_10 resto del Mondo_web

M. Mori et al.
Table 1. Allele frequency of FA-associated deleterious variants* in Japanese population.
Gene
FANCA
FANCA
FANCA
FANCA
FANCC
FANCC
FANCD1 (BRCA2) FANCD1 (BRCA2) FANCD1 (BRCA2) FANCD1 (BRCA2) FANCD1 (BRCA2) FANCD1 (BRCA2) FANCD1(BRCA2)
Genomic location (hg19)
chr16:89882954
Reference allele/ cDNA Alternative allele
CGGCCCAGGCCCTCCGGCGGCCCCCTG/C c.77_102del
Protein Frequency
FANCD1
FANCD1
FANCD1
FANCD2
FANCD2
FANCE
FANCG
FANCG
FANCG
FANCI
FANCI
FANCI
FANCI
FANCI
FANCI
FANCJ
FANCJ
FANCJ
FANCL
FANCL
FANCL
FANCL
FANCM
FANCM
FANCM
FANCM
FANCM
FANCN (PALB2) FANCN (PALB2) FANCN (PALB2) FANCN (PALB2) FANCN (PALB2) FANCN (PALB2) FANCO (RAD51C) FANCP (SLX4) FANCP (SLX4) FANCP (SLX4)
chr16: 89833603 AG/A chr16:89831476 T/A chr16:89805357 TTTG/T chr9:97897635 G/C chr9:97864024 G/A chr13:32903604 CTG/C chr13:32911557 ATAACAT/A chr13:32911577 A/AT chr13:32913261 AGT/A chr13:32914065 CAATT/C chr13:32914209 ACT/A chr13:32914893 ATAACT/A chr13:32920978 C/T chr13:32930713 AG/A chr13:32972800 C/T chr3:10122879 T/TA chr3:10130510 A/C chr6:35425734 GCTT/G chr9:35078714 AG/A chr9:35078601 C/G chr9:35076439 G/A chr15:89801943 TCTC/T chr15:89803942 A/G chr15:89833476 G/GC chr15:89843085 GAA/G chr15:89843605 C/CGGCAAT chr15:89850868 A/AC chr17:59763487 G/C chr17:59761334 AC/A chr17:59761166 C/CA chr2:58456995 C/T chr2:58453870 ATCT/A chr2:58453867 AG/A chr2:58387305 C/CT chr14:45642287 A/ACT chr14:45644477 TAAAC/T chr14:45650888 CGCAGA/C chr14:45658082 TGAA/T chr14:45668139 G/A chr16:23647568 AG/A chr16:23647395 G/A chr16:23646369 AC/A chr16:23646192 G/A chr16:23641004 CA/C chr16:23635328 A/G chr17:56787352 G/C chr16:3651155 CAGA/C chr16:3647443 C/T chr16:3644451 TA/T
c.2546delC c.2602-2A>T c.4189_4191del c.836C>G
c.1642C>T c.657_658del c.3067_3072del c.3085_3086insT c.4770_4771del c.5574_5577del c.5718_5719del c.6402_6406del c.6952C>T
c.7585delG c.10150C>T c.3072_3073insA c.3561-2A>C c.943_945del c.194delC
c.307+1G>C c.1066C>T
c.94_96del
c.157-2A>G c.1854_1855insC c.2692_2693del c.2878_2879insGGCAAT c.3616_3617insC c.2615C>G
c.3072delG c.3240_3241insT c.170G>A c.263_265del c.268delC c.1044_1045insA c.2190_2191insCT c.2521_2522insAAAC c.4367_4371del c.4858_4860del c.6008+1G>A c.298delC
c.472C>T c.1497delG c.1675C>T c.2470delT c.2834+2T>C c.837+1G>C c.985_987del c.1620G>A c.2160+2delT
p.P15fs
p.S849fs
aberrant splicing p.T1397del
p.S279X
p.R548X
p.Val220fs p.N1023_I1024del p.M1029fs p.C1591fs p.I1859fs
p.L1908fs p.N2135fs p.R2318X p.G2529fs p.R3384X p.N1025fs
aberrant splicing p.L316del
p.P65fs
aberrant splicing p.Q356X
p.L33del
aberrant splicing p.L619fs
p.K898fs p.Q961_F962insWE p.L1208fs
p.S872X
p.S1025fs p.A1081fs
p.W57X
p.K88del
p.L90fs
p.G349fs
p.E735fs
p.Q842fs
p.R1456fs p.E1620del aberrant splicing p.D101fs
p.Q158X
p.L499fs
p.Q559X
p.C824fs
aberrant splicing aberrant splicing p.Ser329del p.W540X
aberrant splicing
0.0001
0.0008 0.0001 0.0001 0.0001 0.0003 0.0001 0.0001 0.0001 0.0001 0.0003 0.0001 0.0001 0.0003 0.0001 0.0004 0.0001 0.0001 0.0001 0.0001 0.001 0.0004 0.0001 0.0008 0.0001 0.0001 0.0004 0.0003 0.0001 0.0001 0.0003 0.0008 0.0003 0.0001 0.0001 0.0001 0.0001 0.0001 0.0001 0.0003 0.0001 0.0001 0.0001 0.0003 0.0001 0.0001 0.0001 0.0001 0.0001 0.0003
(BRCA2)
(BRCA2) (BRCA2)
(BRIP1) (BRIP1) (BRIP1)
cont. on the next page
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haematologica | 2019; 104(10)