Pathogenic germ line variants detected by targeted sequencing
| Family . | Subject . | Gene . | Transcript . | Coding change . | Substitution . | Genotype . | Protein . | dbSNP ID . | MAF . |
|---|---|---|---|---|---|---|---|---|---|
| 1001 | 001 | GATA2 | NM_001145661.1 | Intronic | c.1017+572 (C>T) | Heterozygous | None | None | 0 |
| 002 | Wild-type | ||||||||
| 003 | Heterozygous | ||||||||
| 005 | Heterozygous | ||||||||
| 006 | Heterozygous | ||||||||
| 1002 | 001 | GATA2 | NM_001145661.1 | Missense | c.1192 (C>T) | Heterozygous | p.R398W | rs387906629 | 0 |
| 1003 | 001 | GATA2 | NM_001145661.1 | Missense | c.1061 (C>T) | Heterozygous | p.T354M | rs387906631 | 0 |
| 003 | Heterozygous | ||||||||
| 1011 | 001 | SBDS | NM_016038.2 | Missense | c.506 (G>A) | Heterozygous | p.R169H | rs113993996 | 0 |
| 001 | SBDS | NM_016038.2 | Splice | c.258+2 (T>C) | Heterozygous | e2+2 | rs113993993 | 0.002 | |
| 001 | FANCA | NM_000135.2 | Missense | c.1340 (C>T) | Heterozygous | p.S447L | rs149551759 | 0.0002 | |
| 001 | FANCA | NM_000135.2 | Splice | c.3349-3 (C>T) | Heterozygous | e34-3 | rs373861415 | 0.0001 | |
| 1015 | 001 | RUNX1 | NM_001754.4 | Nonsense | c.1163 (C>A) | Heterozygous | p.S388* | None | 0 |
| 002 | Heterozygous | ||||||||
| 004 | Heterozygous |
| Family . | Subject . | Gene . | Transcript . | Coding change . | Substitution . | Genotype . | Protein . | dbSNP ID . | MAF . |
|---|---|---|---|---|---|---|---|---|---|
| 1001 | 001 | GATA2 | NM_001145661.1 | Intronic | c.1017+572 (C>T) | Heterozygous | None | None | 0 |
| 002 | Wild-type | ||||||||
| 003 | Heterozygous | ||||||||
| 005 | Heterozygous | ||||||||
| 006 | Heterozygous | ||||||||
| 1002 | 001 | GATA2 | NM_001145661.1 | Missense | c.1192 (C>T) | Heterozygous | p.R398W | rs387906629 | 0 |
| 1003 | 001 | GATA2 | NM_001145661.1 | Missense | c.1061 (C>T) | Heterozygous | p.T354M | rs387906631 | 0 |
| 003 | Heterozygous | ||||||||
| 1011 | 001 | SBDS | NM_016038.2 | Missense | c.506 (G>A) | Heterozygous | p.R169H | rs113993996 | 0 |
| 001 | SBDS | NM_016038.2 | Splice | c.258+2 (T>C) | Heterozygous | e2+2 | rs113993993 | 0.002 | |
| 001 | FANCA | NM_000135.2 | Missense | c.1340 (C>T) | Heterozygous | p.S447L | rs149551759 | 0.0002 | |
| 001 | FANCA | NM_000135.2 | Splice | c.3349-3 (C>T) | Heterozygous | e34-3 | rs373861415 | 0.0001 | |
| 1015 | 001 | RUNX1 | NM_001754.4 | Nonsense | c.1163 (C>A) | Heterozygous | p.S388* | None | 0 |
| 002 | Heterozygous | ||||||||
| 004 | Heterozygous |
dbSNP ID, Database of Single Nucleotide Polymorphisms identification number; MAF, minor allele frequency.23,24