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. 2018 Nov 21;176(12):2915–2918. doi: 10.1002/ajmg.a.40638

Figure 2.

Figure 2

Protein‐coding transcripts of RBM10 curated by NCBI staff. The c.273_283delinsA mutation (this case report) is the first loss‐of‐function mutation identified in exon 4. The four other transcript variants differ from transcript variant 1 (NM_005676.4) in three ways. The starting codon is in exon 1 in transcript variant 5 (NM_001204468.1). Exon 4 is skipped in transcript variants 2 (NM_152856.2) and 3 (NM_001204466.1). Exon 10 is shortened by three bases in transcript variants 2 and 4 (NM_001204467.1)