Table 1.

ZEB1 mutations associated with PPCD3 and SLC4A11 mutations associated with CHED.

Dystrophy	Gene (Locus)	Exon/Intron	Nucleotide change	AA change	Ref
PPCD3	ZEB1 (10p11.2)	E1	c.1A>G	p.(Met1?)	1
			c.2T>G	p.(Met1?)	2
			c.34C>T	p.(Gln12*)	2
		E4	c.449delG	p(Gly150Alafs*36)	3
		E5	c.640C>T	p.(Gln214*)	2
			c.672delA	p.(Gly225Glufs*7)	4
			c.689_690delAT	p.(His230Argfs*7)	3
		E7	c.929dupA	p.(Cys311Valfs*25)	2
			c.973C>T	p.(Arg325*)	2
			c.1124delT	p.(Phe375Serfs*31)	5
			c.1332_1335delCAAT	p.(Ile444Metfs*48)	6
			c.1348C>T	p.(Gln450*)	6
			c.1387_1390delCCTT	p.(Pro463Trpfs*29)	5
			c.1482dupA	p.(Glu495Argfs*10)	2
			c.1569delA	p.(Val526*)	2
			c.1576dupG	p.(Val526Glyfs*3)	6
			c.1913_1914delCA	p.(Ser638Cysfs*5)	3
			c.2157C>G	p.(Tyr719*)	5
			c.2182G>T	p.(Glu728*)	6
			c.2324dupA	p.(Glu776Glyfs*44)	5
		E8	c.2650delC	p.(Gln884Argfs*37)	3
		E9	c.2916_2917delTG	p.(Gly973Valfs*14)	6
			c.2990_2991delAG	p.(Glu997Alafs*7)	2
			c.3116_3117delAG	p.(Glu1039Glyfs*6)	3
CHED	SLC4A11 (20p13–p12)	E2	c.140delA	p.(Tyr47Serfs*69)	7
			c.246_247delTTinsA	p.(Phe84Leufs*32)	8
		E3	c.306delC	p.(Gly103Valfs*13)	7
			c.334C>T	p.(Arg112*)	7
		E4	c.353_356delAGAA	p.(Lys118Thrfs*12)	9
			c.374G>A	p.(Arg125His)	10
			c.427G>A	p.(Glu143Lys)	7
			c.473_480delGCTTCGCC	p.(Arg158Glnfs*4)	11 7 10 12
			c.478G>A	p.(Ala160Thr)	10
		E5	c.618_619delAG	p.(Val208Alafs*38)	7
			c.625C>T	p.(Arg209Trp)	7
			c.637T>C	p.(Ser213Pro)	11
			c.638C>T	p.(Ser213Leu)	7
		E6	c.654 (−97)_778 (−1488)del698	p.(Cys219Lysfs*49)	10
			c.695G>A	p.(Ser232Asn)	13
			c.697C>T	p.(Arg233Cys)	7
			c.720G>A	p.(Trp240*)	14
		E7	c.806C>T	p.(Ala269Val)	10
			c.812C>T	p.(Thr271Met)	15
			c.859_862delGAGAinsCCT	p.(Glu287Profs*21)	16
			c.878_889del12	p.(Glu293_Glu296d el)	7
			c.985A>T	p.(Arg329*)	13
		I7	c.996+25del19	N/A	7 12
		I8	c.1091-1G>C	splice site inactivation	7
		E9	c.1156T>C	p.(Cys386Arg)	14 10 17
			c.1179G>C	p.(Gly394Arg)	12
			c.1202C>A	p.(Thr401Lys)	7
		E10	c.1253G>A	p.(Gly418Asp)	7, 12
		E11	c.1317_1322del6ins8	p.(Leu440Valfs*6)	7
			c.1378_1381delTACGins A	p.(Tyr460_Ala461d elinsThr)	11
			c.1391G>A	p.(Gly464Asp)	9
			c.1418T>G	p.(Leu473Arg)	7
			c.1463G>A	p.(Arg488Lys)	11
		E12	c.1466C>T	p.(Ser489Leu)	7, 9
		E13	c.1704_1705delCT	p.(His568Hisfs*177)	8
			c.1751C>A	p.(Thr584Lys)	7
		E14	c.1813C>T	p.(Arg605*)	8 7,9
			c.1894G>T	p.(Glu632*)	8 7
		E15	c.2017_2019delTTC	p.(Phe673del)	16
		I15	c.2067 −6_−16 delinsGGCCGGCCGG	N/A	9
			c.2067+1G>A	splice site inactivation	12
		E16	c.2233_2240dupTATGAC AC	p.(Ile748Metfs*5)	11
			c. 2236C>T	p.(Arg757*)	12
		I16	c.2240+1G>A	splice site inactivation	14 17
		E17	c.2263C>T	p.(Arg755Trp)	14 7, 10
			c.2264G>A	p.(Arg755Gln)	8 9 14 7
			c.2318C>T	p.(Pro773Leu)	7,10
			c.2389_2391delGAT	p.(Asp797del)	7
			c.2398C>T	p.(Gln800*)	14
			c.2407C>T	p.(Gln803*)	7
			c.2411G>A	p.(Arg804His)	8
			c.2420delTinsGG	p.(Leu807Argfs*71)	8
			c.2423_2454del32	p.(Leu808Profs*110)	11
		I17	c.2437-1G>A	splice site inactivation	14
		E18	c.2470G>A	p.(Val824Met)	11 7 17
			c.2498C>T	p.(Thr833Met)	8
			c.2506C>T	p.(Glu836*)	14
			c.2518-2520delCTG	p.(Leu840del)	17
			c.2528T>C	p.(Leu843Pro)	11
			c.2566A>G	p.(Met856Val)	11
			c.2606G>A	p.(Arg869His)	8
			c.2605C>T	p.(Arg869Cys)	9 14 7
		E19	c.2618T>C	p.(Leu873Pro)	10
			c.2623C>T	p.(Arg875*)	7

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