Missing Data Disclaimer:
The following 22 sample records (20 unique patients) are excluded from visualization to maintain clarity
(low-frequency variants with n≤2). All variants and cases remain included in the CEBPA database.
Singleton variants (n=1): 6 samples
- P029: chr19:33792981 G>– (p.Ala113fsX1) – AML
- P084: chr19:33792976 GCGGGCCC>– (p.Ala113fsX3) – AML
- P086: chr19:33792327 –>CGGCT (p.Leu331fsX2) – AML
- P088: chr19:33792350 A>G (p.Leu324Arg) – AML
- P092: chr19:33792418 G>A (p.Asp301Glu) – Neutropenia
- P094: chr19:33792247 C>– (p.Ala358fsX1) – AML
Low-frequency variants (n=2): 16 samples
- P018: chr19:33793005 CGGCGGCGGCGGCGGCGAC>– (p.Gly99fsX6) – AML
- P019: chr19:33793005 CGGCGGCGGCGGCGGCGAC>– (p.Gly99fsX6) – AML
- P027: chr19:33793012 G>– (p.Gly103fsX1) – AML
- P028: chr19:33793012 G>– (p.Gly103fsX1) – AML
- P039: chr19:33793002 TT>– (p.Phe106fsX1) – AML
- P040: chr19:33793002 TT>– (p.Phe106fsX1) – AML
- P062: chr19:33792970 –>GTAG (p.Gly117fsX3) – AML
- P063: chr19:33792970 –>GTAG (p.Gly117fsX3) – AML
- P064: chr19:33793155 GGAGCCGCTGGGCGGCATC>– (p.Pro49fsX6) – AML
- P065: chr19:33793155 GGAGCCGCTGGGCGGCATC>– (p.Pro49fsX6) – AML
- P085: chr19:33793252 C>– (p.Pro23fsX1) – AML
- P093: chr19:33793252 C>– (p.Pro23fsX1) – AML
- P102: chr19:33792828 –>G (p.Pro164fsX1) – MM, tAML
- P102: chr19:33793159 G>– (p.Gly54fsX1) – MM, tAML
- P103: chr19:33792828 –>G (p.Pro164fsX1) – Healthy carrier
- P103: chr19:33793159 G>– (p.Gly54fsX1) – Healthy carrier