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October 25, 2025

Laminin Mutations for Junctional EB

 

Gene

DNA


LAMA3

c. 6808C>T

nonsense

LAMA3

c. 7654C>T

nonsense

LAMA3

c. 9641G>C

PTC

LAMA3

c. 222delG

PTC

LAMA3

c. 3177_3178DelAG

PTC

LAMA3

c. 9719A>G

missense

LAMA3

c. 2991_2992del

PTC

LAMA3

c. 5663T>C

missense

LAMA3

c. 1873C>T

synonymous

LAMA3

c. 189C>A

nonsense

LAMA3

c. 151insG

PTC

LAMA3

c. 2942delA

PTC

LAMA3

c. 860_861insT

PTC

LAMB3

c. 972_972delAT

PTC

LAMB3

c. 2752G>A

missense

LAMB3

p. Arg1009SerfsX9

PTC

LAMB3

c. 430C>T

nonsense

LAMB3

c. 1288+1G>T

PTC

LAMB3

c. 124C>T

nonsense

LAMB3

c. 1705C>T

nonsense

LAMB3

c. 1978C>T

nonsense

LAMB3

c. 1903C>T

nonsense

LAMB3

c. 2914C>T

nonsense

LAMB3

c. 2962C>T

missense

LAMB3

c. 958_1034dup

PTC

LAMB3

p. Asn345lysX77

PTC

LAMB3

c. 2945A>G

missense

LAMB3

c. 3512 G>T

nonsense

LAMB3

c. 973T>C

missense

LAMB3

c. 972delA

PTC

LAMB3

c. 1063T>C

missense

LAMB3

c. 3247C>T

nonsense

LAMB3

c. 496C>T

nonsense

LAMB3

c. 727C>T

nonsense

LAMB3

c. 628G>A

missense

LAMB3

c. 596G>C

missense

LAMB3

c. 962A>C

missense

LAMB3

c. 2011delC

PTC

LAMB3

p. Leu11PfsX43

PTC

LAMB3

c. 1516T>A

missense

LAMB3

c. 1244C>T

missense

LAMB3

c. 1439C>T

missense

LAMB3

c. 272C>G

nonsense

LAMB3

c. 285G>A

nonsense

LAMB3

c. 3119G>A

nonsense

LAMB3

c. IVS7-12T>A

PTC

LAMB3

c. 1405C>T

missense

LAMB3

c. 1017T>G

nonsense

LAMB3

c. 3052-5C>G

PTC

LAMB3

c. 1830G>A

nonsense

LAMB3

c. 1101delC

PTC

LAMB3

c. 1133-22G>A

PTC

LAMB3

c. 1296insA

PTC

LAMB3

c. 1359del2

PTC

LAMB3

c. 1365delCA

PTC

LAMB3

c. 1415LfsX7

PTC

LAMB3

c. 1629insG

PTC

LAMB3

c. 183G>A

nonsense

LAMB3

c. 1942delG

PTC

LAMB3

c. 1977-1G>A

PTC

LAMB3

c. 2137+1G>T

PTC

LAMB3

c. 2273G>T

PTC

LAMB3

c. 232-2A>G

PTC

LAMB3

c. 2379delG

PTC

LAMB3

c. 2528delA

PTC

LAMB3

c. 2938C>T

nonsense

LAMB3

c. 3024dupT

PTC

LAMB3

c. 31dupC

PTC

LAMB3

c. 3228+2T>A

PTC

LAMB3

c. 3492_3493delCG

PTC

LAMB3

c. 373-9T>A

PTC

LAMB3

c. 429delC

PTC

LAMB3

c. 464insT

PTC

LAMB3

c. 4909+1G>A

PTC

LAMB3

c. 564+5G>T

PTC

LAMB3

c. 565-3T-C

PTC

LAMB3

c. 628+1G>A

PTC

LAMB3

c. 629-12T>A

PTC

LAMB3

c. 822+1G>A

PTC

LAMB3

c. 957ins77

PTC

LAMB3

c. 978delC

PTC

LAMB3

c. IVS 10+5G>7A

PTC

LAMB3

c. IVS14-1G>A

PTC

LAMB3

c. IVS16-2A>G

PTC

LAMB3

c. IVS8-1G>A

PTC

LAMC2

c. 136C>T

nonsense

LAMC2

c. 1637C>A


LAMC2

c. 3229-2A>G

PTC

LAMC2

c. 368_373delins

PTC

LAMC2

c. 763+2T>C

PTC

LAMC2

c. 1882C>T

nonsense


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!
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