From: Proceedings of the 24th Paediatric Rheumatology European Society Congress: Part one
Gene | Variant | Coordinate | Transcript | Consequence | dbSNP ID |
---|---|---|---|---|---|
CTBP2 | T > T/A | 126727602 |  |  | rs76555439 |
HYDIN | GA > GA/G | 70896015 | NM_032821.2 | frameshift_variant, feature_truncation | rs77276171 |
ZNF717 | A > A/T | 75786827 | NM_001128223.1 | stop_gained | rs79635065 |
ZNF717 | C > C/A | 75786916 | NM_001128223.1 | stop_gained | rs78906544 |
ZNF717 | G > G/T | 75787127 | NM_001128223.1 | stop_gained | rs74740396, rs148624740 |
ZNF717 | T > T/TA | 75787352 | NM_001128223.1 | frameshift_variant, feature_elongation |  |
ZNF717 | GAA > GAA/G | 75787645 | NM_001128223.1 | frameshift_variant, feature_truncation | rs67117547, rs141065192 |
ZNF717 | G > G/C | 75788028 | NM_001128223.1 | stop_gained | rs77971486, rs150689808 |