Table 3 CHD5 sequence variants found among one or more affected in the screening panel
Location | Nucleotide change | Amino acid change | db SNP ID |
|---|---|---|---|
Exon 5 | c.531G>A | None [P177P] | Not in database |
Intron 8 | IVS8+41C>A | None | rs41279496 |
Intron 11 | IVS11-7G>C | None | rs17489787 |
Intron 13 | IVS13-17C>T | None | Not in database |
Exon 15 | c.2379C>T | None [N793N] | rs2273032 |
Exon 22 | c.3336G>A | None [A1112A] | rs17029184 |
Exon 22 | c.3351C>G | I1117M | Not in database |
Intron 36 | IVS36-38C>T | None | Not in database |
Intron 36 | IVS36-49C>T | None | Not in database |
Intron 39 | IVS39+34C>T | None | Not in database |