Table 1.

Genotype of small and gross variants in each of our cases are presented

Gene, transcript, peptide	Patient	Mutation
FANCA, NM_000135, NP_000126	1	c.[(461_570)_(3937_3155)del];[(461_570)_(3937_3155)del], p.[(?)];[(?)] (Exons 6–31 homozygous deletion)a
	2	c.[(461_570)_(3937_3155)del];[(461_570)_(3937_3155)del], p.[(?)];[(?)] (Exon 6–31 homozygous deletion)a
	3	c.[(?_-15)_(250_351)del];[(?_-15)_(250_351)del], p.[(?)];[(?)] (Exon 1-3 and 6–31 compound heterozygous deletion)a
	4	c.[3163C=/3163C>T];[c.3491C>T], p.[R1055 R/W];[P1164L]
	5	c.[2557C=/2557C>T];[3754G>T], p.[R853R/*];[E1252*]
	6	c.[776C>G];[3935−7G>A], p.[P259R];[(?)]
	7	c.[2938G>C];[2938G>C], p.[A980P];[A980P]
	8	c.[3026G>A];[3026G>A], p.[G1009D];[G1009D]
	9	c.[2638C>T];[2638C>T], p.[R880*];[R880*]
	10	c.[894–2A>G];[894–2A>G], p.[(?)];[(?)]
	12	c.[4261–2A>C];[4261–2A>C], p.[(?)];[(?)]
	14	c.[894–2A>G];[894–2A>G], p.[(?)];[(?)]
	18	c.[240_241delTG];[240_241delTG], p.[C80*]:[C80*]
	19	c.[2504+5G>T;2504+3G>A];[c.2504+5G>T], p.[(?)];[(?)]
	20	c.[128T>G];[2638C>T], p.[L43*];[R880*]
FANCC, NM_000136,NP_000127	15	c.[456+4A>T];[456+4A>T], p.[(?)];[(?)]
FANCD1/BRCA2, NM_000059, NP_000050	17	c.[9739C>T];[9739C=], p.[Q3247*];[Q3247=]
FANCE, NM_021922, NP_068741	13	c.[355C>T];[1509+lG>A], p.[Q119*];[(?)]
FANCJ/BRIP1, NM_032043, NP_114432	16	c.[205+5G>T];[761_764delAGCA], p.[?];[K254Rfs*19]
FANCL, NM_018062, NP_060532	11	c.[739_740dupAT];[739_740dupAT], p.[M247 fs*15];[M247 fs*15]
FANCN/PALB2, NM_024675, NP_078951	17	c.[(347_2009)_(2542_2748+3)del];[(347=)_(2542=)], p.[=]:[?] (Exon 5–6 heterozygous deletion)a

Novel variants are written in bold. References to previously published variants are provided in online suppl. Table 1.

^aGross deletions are annotated according to MLPA probe-based sequence variant nomenclature suggested for positions where break points have not been sequenced [den Dunnen et al., 2016],