Table 3

 The 23 previously published splicing mutations at the last nucleotide of an exon

GeneExonWild type sequenceMutant nucleotide at −1Wild type nucleotide at +6
Nucleotides that do not match to U1 snRNA are underlined, where the matched optimal sequence is “CAGgtaagt”. Exonic and intronic nucleotides are indicated by upper and lower case letters, respectively.
ATM 22 1AAGgtaggaAa
CFTR 23 2CAGgtactaCa
CPS1 24 8AAGgtgcaaCa
CYP27 25 6GCGgtaggaAa
FAH 26 2CAGgtaggaTa
HEXA 27 3GAGgtaacaAa
IL2RG 28 6ACGgtgagaAa
PKLR 29 9GCGgtaggaAa
PROC 30 7CAGgtgggaCa
COL1A1 31 6ATGgtgagcAc
COL1A2 32 6ATGgtatgcAc
COL3A1 33 3AAGgtaaccAc
CYP27A1 34 3AAGgtacccCc
LIPA 35 8CAGgtaggcAc
LIPA 36 8CAGgtaggcAc
CDKN2A 37 2CAGgtgaggTg
UROS 38 4AAGgtgaggTg
ATM 22 2AAGgtatatAt
HBB 39 1CAGgttggtCt
SERPINC1 40 3AAGgtgagtAt
XPA 41 3CAGgtacttAt
XPA 41 4CAGgtctctCt
XPA 42 5AAGgtagatCt