Table 3.

Summary of cases diagnosed by genome sequencing and RNAseq

Index	Primary symptom	Diagnosis	Genomic variant type	Inheritance	Splicing abnormality (tissue)	Variant Classification
1	Neurologic	SEPSECS NM_016955.3:c.808dup; NP_058651.3:p.(Ala270GlyfsTer5)	Frameshift deletion	Paternal	No splice change (blood)	Pathogenic
		SEPSECS NM_016955.3:c.846 G>A; NP_058651.3:p.(Leu282=)	Synonymous SNV	Maternal	Exon skipping (blood)	Likely pathogenic
2	Musculoskeletal	LMNA NC_000001.11(NM_170707.3):c.1157+23_1158-45delAGGTGCTGGCAGTGTCCTCTGGCCGG; NP_733821.1:p.?	Deep intronic SV	De novo	Intron retention (blood, fibroblast)	Likely pathogenic
3	Neurologic	SLC25A46 NC_000005.9(NM_138773.3):c.385-852_385-739del; NP_620128.1:p.?	Deep intronic SV	Paternal	Intron retention and pseudoexon creation (blood)	Likely pathogenic
		SLC25A46 NM_138773.3:c.992T>C; NP_620128.1:p.(Leu331Pro)	Missense SNV	Maternal	No splice change (blood)	Likely pathogenic
4	Musculoskeletal	DMD NG_012232.1(NM_004006.2):c.9974+175T>A; NP_003997.1:p.?	Deep intronic SNV	De novo	Pseudoexon creation (muscle)	Pathogenic
5	Neurologic	SARS2 NM_001145901.1:c.1353G>A; NP_001139373.1:p.(Thr451=)	Synonymous SNV	Paternal	Intron retention (fibroblast)	Likely pathogenic
		SARS2 NM_001145901.1:c.1061A>C; NP_001139373.1:p.(Glu354Ala)	Missense SNV	Maternal	No splice change (fibroblast)	Likely pathogenic
6	Musculoskeletal	MPV17 NG_008075.1(NM_002437.4):c.376-9T>G; NP_002428.1:p.?	Splice region SNV	Paternal	Exon skipping (blood, fibroblast)	Likely pathogenic
		MPV17 NM_002437.4:c.206G>A; NP_002428.1:p.(Trp69Ter)	Nonsense SNV	Maternal	No splice change (blood, fibroblast)	Pathogenic
7	Musculoskeletal	COL6A1 NG_008674.1(NM_001848.2):c.930+189C>T; NP_001839.2:p.?	Deep intronic SNV	De novo	Pseudoexon creation (muscle)	Pathogenic

SNV single-nucleotide variant, SV structural variant.