Fig. 4

Single nucleotide variants identified in SMN1 intron 6. SMN1 intron 6 single nucleotide variants identified in this study are shown in black font. Previously reported SMN1 intron 6 pathogenic mutations are shown in grey font [1, 17, 18]. ^aIdentified in this study and previously reported as a SNV [17]. SMN1, survival motor neuron 1; SMN2, survival motor neuron 2; SNV, single nucleotide variant