Table 1

Pathogenic germ line variants detected by targeted sequencing

FamilySubjectGeneTranscriptCoding changeSubstitutionGenotypeProteindbSNP IDMAF
1001001GATA2NM_001145661.1Intronicc.1017+572 (C>T)HeterozygousNoneNone0
002Wild-type
003Heterozygous
005Heterozygous
006Heterozygous
1002001GATA2NM_001145661.1Missensec.1192 (C>T)Heterozygousp.R398Wrs3879066290
1003001GATA2NM_001145661.1Missensec.1061 (C>T)Heterozygousp.T354Mrs3879066310
003Heterozygous
1011001SBDSNM_016038.2Missensec.506 (G>A)Heterozygousp.R169Hrs1139939960
001SBDSNM_016038.2Splicec.258+2 (T>C)Heterozygouse2+2rs1139939930.002
001FANCANM_000135.2Missensec.1340 (C>T)Heterozygousp.S447Lrs1495517590.0002
001FANCANM_000135.2Splicec.3349-3 (C>T)Heterozygouse34-3rs3738614150.0001
1015001RUNX1NM_001754.4Nonsensec.1163 (C>A)Heterozygousp.S388*None0
002Heterozygous
004Heterozygous
  • dbSNP ID, Database of Single Nucleotide Polymorphisms identification number; MAF, minor allele frequency.23,24