DeepAstroUDA: Semi-Supervised Universal Domain Adaptation for Cross-Survey Galaxy Morphology Classification and Anomaly Detection
by A. Ciprijanoviu0107, A. Lewis, K. Pedro
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| Position | Chromosome | Reference Base | Alternate Base | Gene Symbol | Gene ID | Mutation Type | Amino Acid Change | Protein Position | Clinical Significance | Population Frequency | Conservation Score | SIFT Prediction | PolyPhen Prediction | Exon/Intron | Transcript ID | dbSNP ID | HGVS Notation | Pathway | Disease Association |
| 41256161 | 17 | C | T | BRCA1 | 672 | Missense | p.Arg1443Ter | 1443 | Pathogenic | 0.0001 | 0.89 | Deleterious | Probably Damaging | Exon 13 | NM_007294.3 | rs80357711 | c.4327C>T | DNA Repair | Breast Cancer |
| 117559591 | 7 | CTT | C | CFTR | 1080 | Deletion | p.Phe508del | 508 | Pathogenic | 0.008 | 0.95 | Deleterious | Probably Damaging | Exon 10 | NM_000492.3 | rs113993960 | c.1521_1523delCTT | Ion Transport | Cystic Fibrosis |
| 5227002 | 11 | A | T | HBB | 3043 | Missense | p.Glu6Val | 6 | Pathogenic | 0.02 | 0.92 | Deleterious | Probably Damaging | Exon 1 | NM_000518.4 | rs334 | c.17A>T | Oxygen Transport | Sickle Cell Anemia |
| 45411941 | 19 | T | C | APOE | 348 | Missense | p.Cys112Arg | 112 | Risk Factor | 0.15 | 0.76 | Tolerated | Possibly Damaging | Exon 4 | NM_000041.3 | rs429358 | c.334T>C | Lipid Metabolism | Alzheimer's Disease |