Table 3 Mutation information of TRIM73, DLX6 and CNGB1
Gene name | ID | Chromosome | REF | ALT | ExonicFunc | AAChange | cytoBand |
|---|---|---|---|---|---|---|---|
TRIM73 | HSQ | 7 | T | C | nonsyn-SNV | NM_198924;c.23 T > C;p.L8P | 7q11.23 |
TRIM73 | LHY | 7 | T | C | nonsyn-SNV | NM_198924;c.23 T > C;p.L8P | 7q11.23 |
TRIM73 | ZXL | 7 | T | C | nonsyn-SNV | NM_198924;c.23 T > C;p.L8P | 7q11.23 |
TRIM73 | ZXH | 7 | T | C | nonsyn-SNV | NM_198924;c.23 T > C;p.L8P | 7q11.23 |
DLX6 | HP | 7 | C | T | nonsyn-SNV | NM_005222;c.146C > T;p.P49L | 7q21.3 |
DLX6 | HYH | 7 | GGCA | G | non-shift_del | NM_005222;c.75_77del; p.Q44Pfs*250 | 7q21.3 |
DLX6 | LHY | 7 | GGCA | G | non-shift_del | NM_005222; c.75_77del;p.Q44Pfs*250 | 7q21.3 |
DLX6 | ZXH | 7 | GCAC | G | non-shift_del | NM_005222;c.256_258del; p.H91Qfs*203 | 7q21.3 |
CNGB1 | HP | 16 | TTCC | T | non-shift_del | NM_001297;c.1101_1103del; p.E371Vfs*881 | 16q21 |
CNGB1 | HSQ | 16 | TTCC | T | non-shift_del | NM_001297;c.1101_1103del; p.E371Vfs*881 | 16q21 |
CNGB1 | LHY | 16 | TTCC | T | non-shift_del | NM_001297;c.1101_1103del; p.E371Vfs*881 | 16q21 |
CNGB1 | QY | 16 | TTCC | T | non-shift_del | NM_001297;c.1101_1103del; p.E371Vfs*881 | 16q21 |