Garrett's House: Junctional EB Col17a1 Mutations

October 22, 2025

c. R1814_G1815del_ins (framshift)

c. 10A>G (missense)

c. 1139C>T (missense)

c. 1339G>T (missense)

c. 1834G>A (missense)

c. 2444C>T (missense)

c. 2566C>T (missense)

c. 3908G>A (missense)

c. 1271G>T (nonsense)

c. 2356C>T (nonsense)

c. 2407G>T (nonsense)

c. 2564T>G (nonsense)

c. 3505C>T (nonsense)

c. 3676C>T (nonsense)

c. 3781C>T (nonsense)

c. 796T>G (nonsense)

c. 2383C>T (nonsense)

c. 1284delA (PTC)

c. 1365delC (PTC)

c. 1706delA (PTC)

c. 2342delG (PTC)

c. 3000_3008del (PTC)

c. 3236delC (PTC)

c. 3432delT (PTC)

c. 4144del4 (PTC)

c. 4425delT (PTC)

c. 399delA (PTC)

c. 1221+4A>G (splice)

c. 1744-2A>C (splice)

c. 1877-2A>C (splice)

c. 2003-1G>C (splice)

c. 202+6T>G (splice)

c. 3071-5G>A (splice)

c. 3418+2delT (splice)

c. 3766+5G>A (splice)

c. 4156+1G>A (splice)

c. 4424_5insC (splice)

c. 8305-1G>A (splice)

c. IVS51+1G>A (splice)

c. 3198C>T (synonymous)

Pages