Table 1.

Genetic features of the patients with PIEZO1 variants analyzed in this study

Patient ID	HGVS (Coding)∗	HGVS (protein)	RefSeq ID	HGMD	Zygosity	Protein domain	Protein domain function	Published patient data (Y/N)	Published variant
DHS1	c.6328C>T	p.Arg2110Trp	rs776531529	CM1911800	Het	Anchor	Transduction module	Y	12,35
DHS2	c.1815G > A	p.Met605Ile	-	CM1911750	Het	THU4	Mechanosensing module	Y	12,38
DHS3	c.2268_2270delGGA	p.Glu756del	rs572934641	CD184712	Het	THU5	Mechanosensing module	N	26
DHS4	c.2268_2270delGGA	p.Glu756del	rs572934641	CD184712	Het	THU5	Mechanosensing module	N	26
DHS5	c.4766C>T	p.Thr1589Ile	rs534283978	CM1914354	Het	Close to CLASP	Ion-conducting pore	N	36
DHS6	c.5195C>T	p.Thr1732Met	rs139051768	CM200163	Het	THU8	Mechanosensing module	N	35
DHS7	c.2005G>T	p.Asp669Tyr		CM1817546	Het	THU4	Mechanosensing module	Y	14
DHS8	c.2005G>T	p.Asp669Tyr		CM1817546	Het	THU4	Mechanosensing module	Y	14
DHS9	c.1815G > A	p.Met605Ile	-	CM1911750	Het	THU4	Mechanosensing module	Y	38
DHS10	c.6205G>A	p.Val2069Met	rs199752762	-	Het	Close to Anchor	Transduction module	N	-
DHS11	c.6796G>A	p.Val2266Ile	rs546338962	CM187363	Het	CAP (CED)	Ion-conducting pore	Y	37,38
DHS12	c.4274G>A	p.Ser1425Asn	rs772788410	-	Hom	THU7	Mechanosensing module	N	-
DHS13	c.4274G>A	p.Ser1425Asn	rs772788410	-	Hom	THU7	Mechanosensing module	N	-
DHS14	c.5389C>T	p.Arg1797Cys	-	CM187402	Hom	THU8	Mechanosensing module	Y	37
DHS15	c.5389C>T	p.Arg1797Cys	-	CM187402	Hom	THU8	Mechanosensing module	Y	37
DHS16	c.5389C>T	p.Arg1797Cys	-	CM187402	Hom	THU8	Mechanosensing module	N	37

CED, C-terminal extracellular domain; Het, heterozygous; Hom, homozygous; N, not; Y, yes; HGVS, Human Genome Variation Society.

^∗The transcript reference of the PIEZO1 gene is NM_001142864.4