Table 1 Summary of resolved cases in this study

Case	cDNA change	Amino acid change^a	Zygosity	Method
NM-U1	c.24386_24387insCAAA	p.Gln8130Lysfs*6	Hetero	ES
NM-U1	c.1569+339A>G	p.Leu524Phefs*9	Hetero	RNA-seq
NM-U2	c.20158–6A>G	p.Leu6721Argfs*11	Hetero	ES
NM-U2	c.24684G>C	Various consequences^b	Hetero	RNA-seq
NM-U3	c.23029del	p.Tyr7677Metfs*10	Hetero	ES
NM-U3	c.24684G>C	Various consequences^b	Hetero	RNA-seq
NM-U4	c.23029del	p.Tyr7677Metfs*10	Hetero	ES
NM-U4	c.24684G>C	Various consequences^b	Hetero	RNA-seq
NM-U5	c.19285_19286del	p.Ala6429Glnfs*17	Hetero	ES
NM-U5	ND	ND	ND	ND
NM-U6	c.7228–2A>G	p.Asn2410_Asp2477del	Hetero	ES
NM-U6	ND	ND	ND	ND
NM-U7	c.19102–2A>G	Various consequences^c	Hetero	ES
NM-U7	c.24684G>C	Various consequences^b	Hetero	ES
NM-U8	c.23847+164A>G	p.Met7951Alafs*72	Hetero	ES
NM-U8	c.24684G>C	Various consequences^b	Hetero	ES
NM-U9	c.7755del	p.Ser2585Argfs*34	Hetero	ES
NM-U9	c.24684G>C	Various consequences^b	Hetero	ES
NM-U10	c.9046C>T	p.Arg3016*	Hetero	ES
NM-U10	c.24684G>C	Various consequences^b	Hetero	ES

Variant description is based on NM_001271208.1. ^aAmino acid sequence of aberrantly spliced transcript. ^bp.Ser8288Ser, p.Ser8228Valfs*17 (exonic splice gain leading to 3′-side 5-bp shortening of exon 175), p.Tyr8231Serfs*2 (intron 175 retention), p.Val8204_Asn8234del (exon 175 skipping), p.Val8204_Asn8265del (exons 175 and 176 skipping), p.Ser8228Ilefs*22 (5-bp deletion in exon 175 and exon 176 skipping). ^cp.Val6368_Ser6402del (exon 123 skipping), p.Ile8560delinsArgLeuProValLeuLeuPheGlnGlyGlnThrIleSerCysLeuTyrValPheSerAsnAsnArgGlyGlu* (intron 122 retention).
cDNA complementary DNA, ES exome sequencing, Hetero heterozygous, ND second variant not detected.

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