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Rare Variants in PDGFRB and NOTCH3 Identified in Nine IM Families from WES
| Gene (MIM) | Genomic Location (hg19) (RefSeq) | Exon | Family | cDNA | Protein | MAF in 1000 Genomes Project or ESP6500SI |
|---|---|---|---|---|---|---|
| PDGFRB (173410) | chr5: 149,503,858 (NM_002609.3) | 14 | IM-1 | c.1978C>A | Pro660Thr | 0.000077 |
| PDGFRB (173410) | chr5: 149,505,134 (NM_002609.3) | 12 | IM-2–IM-8 | c.1681C>T | Arg561Cys | – |
| NOTCH3 (600276) | chr19: 15,285,059 (NM_000435.2) | 25 | IM-9 | c.4556T>C | Leu1519Pro | – |
