Rare forms of EB

 

Gene	DNA Change	Mutation Type	Subtype of EB
DSP	p. Ala1537Ser	missense	EBS-R
DSP	c. 4750 G>A	missense	EBS-R
DSP	p. Gln100Ter	nonsense	EBS-R
DSP	c. 7123G>A	missense	EBS-R
DSP	c. 7577 G>A	missense	EBS-R
DSP	c. 88G>A	missense	EBS-R
DSP	c. 4609C>A	missense	EBS-R
DST	c. 14496C>G	missense	EBS-R
DST	c. 6346C>G	missense	EBS-R
DST	c. 15838C>T	missense	EBS-R
DST	c. 3370C>T	nonsense	EBS-R
DST	c. 10283A>F	missense	EBS-R
DST	c. 10283A>G	missense	EBS-R
DST	c. 9418A>G	missense	EBS-R
DST	c. 10930A>G	missense	EBS-R
DST	c. 8590T>C	missense	EBS-R
DST	c. 7215G>A	missense	EBS-R
FERMT1	c. 129T>G	missense	Kindler
FERMT1	c. 114T>C	missense	Kindler
FERMT1	c. 151+20C>T	splice	Kindler
FERMT1	c. 152-4G>A	splice	Kindler
FERMT1	c. 479T>C	missense	Kindler
FERMT1	c. 532+8T>C	splice	Kindler
FERMT1	c. 532+34T>C	splice	Kindler
FERMT1	c. 533-17A>C	splice	Kindler
FERMT1	c.37G>T		KINDLER
FERMT1	c.1192_1194delinsAT	PTC	KINDLER
FERMT1	c.811C>T		KINDLER
FERMT1	c.277C>T		KINDLER
FLG	c. 1501C>T	nonsense	EBS-R
ITGA3	c. 1988C>T	missense	ILNEB
ITGA3	c. 929C>T	missense	ILNEB
ITGA3	c. 394G>A	missense	ILNEB
ITGA3	c. 3029T>C	missense	ILNEB
ITGA6	p. Gly273Asp	missense	JEB-PA
ITGB4	c. 2962G>A	missense	JEB-PA
ITGB4	p. Ala157GlyfsX2	PTC	JEB-PA
ITGB4	c. 528C>A	missense	JEB-PA
ITGB4	c. 3674G>A	missense	JEB-PA
ITGB4	c. 3674G>A	missense	JEB-PA
ITGB4	c. 754C>T	missense	Dominant JEB
ITGB4	c. 755G>T	missense	JEB-PA
ITGB4	c. 178C>T	missense	JEB-PA
ITGB4	c. 3554A>G	missense	JEB-PA
ITGB4	p. Asp132Tyr	missense	JEB-PA
ITGB4	c. 433G>T	missense	Dominant JEB
ITGB4	p. Asp453Gly	missense	JEB-PA
ITGB4	c. 2011T>C	missense	JEB-PA
ITGB4	c. 1370G>A	missense	JEB-PA
ITGB4	c. 1469G>A	missense	JEB-PA
ITGB4	c. 182G>A	missense	JEB-PA
ITGB4	c. 2032G>T	missense	JEB-PA
ITGB4	c. 2783-2A>G	PTC	JEB-PA
ITGB4	c. 1549delG	PTC	JEB-PA
ITGB4	c. 3598 G>A	missense	JEB-PA
ITGB4	c. 5138delG	PTC	JEB-PA
ITGB4	c. 701G>T	missense	JEB-PA
ITGB4	p. Gln100Ter	missense	JEB-PA
ITGB4	c. 1274A>C	missense	JEB-PA
ITGB4	c. 4631_4632del	PTC	JEB-PA
ITGB4	p. Leu336Pro	missense	JEB-PA
ITGB4	c. 1234insC	PTC	JEB-PA
ITGB4	c. 600dupC	PTC	JEB-PA
ITGB4	p. Pro200Arg	missense	JEB-PA
ITGB4	c. 600insC	PTC	JEB-PA
ITGB4	c. 914C>T	missense	JEB-PA
ITGB4	c. 2533C>T	nonsense	JEB-PA
ITGB4	c. 3321_3331del	PTC	JEB-PA
ITGB4	c. 794dupC	PTC	JEB-PA
ITGB4	c. 3707_3725del19	PTC	JEB-PA
ITGB4	c. 3719G>A	nonsense	JEB-PA
ITGB4	c. 997T>G	missense	JEB-PA
ITGB4	c. 121T>C	missense	JEB-PA
ITGB4	c. 3793+1G>A	splice	JEB-PA
ITGB4	c. 5040delC	PTC	JEB-PA
ITGB4	c. 5046delC	PTC	JEB-PA
ITGB4	c. 4505-4508insA	splice	JEB-PA
ITGB4	c. 470_566+182del	splice	JEB-PA
ITGB4	c. 565_566+2del	splice	JEB-PA
ITGB4	c. 3111+1G>A	splice	JEB-PA
ITGB4	c. 3977-19T>A	splice	JEB-PA
ITGB4	c. 36793_1G>A	splice	JEB-PA
ITGB4	c. 3793+1G>A	splice	JEB-PA
ITGB4	c. 4851delCA	PTC	JEB-PA
ITGB4	c.1076T>C		JEB-PA
ITGB4	c.1370G>A		JEB-PA
ITGB4	c.1684T>C		JEB-PA
ITGB4	c.3719G>A		JEB-PA
ITGB4	c.794dupC		JEB-PA
ITGB4	c.907G>T		JEB-PA
JUP	c. 2207C>T	missense	EBS-R
JUP	c. 71G>A	nonsense	EBS-R
JUP	c. 468G>A	synonymous	EBS-R
KLHL24	c.1A>G		EBS-KLHL24
KLHL24	c.3G>A		EBS-KLHL24
KLHL24	c. 2T>C		EBS-KLHL24
PKP1	c. 1399T>C	missense	EBS-R
PLEC	c.5545G>A		EBS-MD
PLEC	c.979G>A		EBS-MD
PLEC	c.7591C>T		EBS-MD
PLEC	c.6622C>T		EBS-MD
PLEC	c.7645G>T		EBS-MD
PLEC	c.4756C>T		EBS-MD
PLEC	c.9842G>A		EBS-MD
TGM5	c. 2161T>C	missense	APSS
TGM5	c. 125C>A	missense	APSS
TGM5	c. 1138G>C	missense	APSS
TGM5	c. 1335G>C	missense	ASPP

APSS: Accrual Peeling Skin Syndrome

EBS-MD: EB simplex w/ muscular dystrophy

EBS-R: recessive EBS

JEB-PA: Junctional with Pyloric Atresia 

INLEB: Interstitial Lung disease, Nephrotic syndrome, and Epidermolysis Bullosa, 

PTC- Premature Termination Codon

These are all the EB mutations I have come upon over the years. If you have mutations you'd like to add, please reach out!