Table 1.
Region | Position * | Ensfcat 00000014705 | DSH controls | Unaffected littermate | Affected patient |
---|---|---|---|---|---|
5’ UTR | T(-996)A | T | T | T/A | A |
G(-973)A | G | G | A/G | A | |
Exon 2 | C216T | C | C | C/T | T |
F72F | F | F | F | F | |
G223A† | G | G | G | G | |
V75M | V | V | V | V | |
Exon 4 | G637T | G | G | G/T | T |
E213X | E | E | E/X | X | |
G731del† | G | G | G | G | |
R244P | R | R | R | R | |
Intron 7 | C149G | C | C | C/G | G |
T278A | T | T | T/A | A |
Top is the nucleotide position and change, bottom is the amino acid position and change
Previously identified mutations in CYP27B1