| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.9763731C>G | CA394706793 | GRIN2A | c.3813G>C (p.Trp1271Cys) c.3301+41G>C (n.3301+41G>C) n.3365+41G>C c.3342G>C (p.Trp1114Cys) c.*1183G>C (n.*1183G>C) c.3402G>C (p.Trp1134Cys) n.3411+41G>C c.3361+41G>C (n.3361+41G>C) c.3772+41G>C (n.3772+41G>C) c.3654G>C (p.Trp1218Cys) c.3555G>C (p.Trp1185Cys) c.3969G>C (p.Trp1323Cys) c.3928+41G>C (n.3928+41G>C) | dbSNP gnomAD v4 |
| 16 | g.9763731C>T | CA10605142 | GRIN2A | c.3813G>A (p.Trp1271Ter) c.3301+41G>A (n.3301+41G>A) n.3365+41G>A c.3342G>A (p.Trp1114Ter) c.*1183G>A (n.*1183G>A) c.3402G>A (p.Trp1134Ter) n.3411+41G>A c.3361+41G>A (n.3361+41G>A) c.3772+41G>A (n.3772+41G>A) c.3654G>A (p.Trp1218Ter) c.3555G>A (p.Trp1185Ter) c.3969G>A (p.Trp1323Ter) c.3928+41G>A (n.3928+41G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.9763731C>A | CA394706792 | GRIN2A | c.3813G>T (p.Trp1271Cys) c.3301+41G>T (n.3301+41G>T) n.3365+41G>T c.3342G>T (p.Trp1114Cys) c.*1183G>T (n.*1183G>T) c.3402G>T (p.Trp1134Cys) n.3411+41G>T c.3361+41G>T (n.3361+41G>T) c.3772+41G>T (n.3772+41G>T) c.3654G>T (p.Trp1218Cys) c.3555G>T (p.Trp1185Cys) c.3969G>T (p.Trp1323Cys) c.3928+41G>T (n.3928+41G>T) | dbSNP |