Exon | Nucleotide change | Amino acid change | Freq in controls | Conserved in mouse/dog | BIC entries |
11 | 2531 G/C | Q804H | 0.0 | +/− | 0 |
11 | 3537 A/G | S1140G | 0.0 | −/+ | 15 |
11 | 4158 A/G | R1347G | 0.012-150 | −/+ | 75 |
16 | 4931 A/G | Q1604Q | ND | +/+2-151 | 16 |
16 | 5029 C/T | P1637L | 0.0 | +/+ | 11 |
18 | 5075 G/A | M1652I | 0.01 | +/+ | 8 |
intron 22 | IVS22+8 T/C | Unknown | ND | ND | 2 |
3′ untrans | UGA+36 C/G | Unknown | ND | ND | 4 |