| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.157174030G>T | CA16042647 | ARID1B | c.3258G>T (p.Met1086Ile) c.3168G>T (p.Met1056Ile) c.3387G>T (p.Met1129Ile) c.1272G>T (p.Met424Ile) c.3297G>T (p.Met1099Ile) c.3009G>T (p.Met1003Ile) c.1416G>T (p.Met472Ile) n.46G>T c.579G>T (p.Met193Ile) c.213G>T (p.Met71Ile) n.1255G>T c.626G>T n.530G>T c.540G>T n.83G>T c.759G>T (p.Met253Ile) c.3048G>T (p.Met1016Ile) c.1275G>T (p.Met425Ile) c.210G>T (p.Met70Ile) c.460G>T c.2088G>T (p.Met696Ile) c.1908G>T (p.Met636Ile) c.1668G>T (p.Met556Ile) c.1287G>T (p.Met429Ile) c.150G>T (p.Met50Ile) c.3219G>T (p.Met1073Ile) c.3120G>T (p.Met1040Ile) c.3090G>T (p.Met1030Ile) c.2910G>T (p.Met970Ile) n.3302G>T | ClinVar dbSNP |
| 6 | g.157174030G= | CA1675530447 | ARID1B | c.3258G= (p.Met1086=) c.3168G= (p.Met1056=) c.3387G= (p.Met1129=) c.1272G= (p.Met424=) c.3297G= (p.Met1099=) c.3009G= (p.Met1003=) c.1416G= (p.Met472=) n.46G= c.579G= (p.Met193=) c.213G= (p.Met71=) n.1255G= c.626G= n.530G= c.540G= n.83G= c.759G= (p.Met253=) c.3048G= (p.Met1016=) c.1275G= (p.Met425=) c.210G= (p.Met70=) c.460G= c.2088G= (p.Met696=) c.1908G= (p.Met636=) c.1668G= (p.Met556=) c.1287G= (p.Met429=) c.150G= (p.Met50=) c.3219G= (p.Met1073=) c.3120G= (p.Met1040=) c.3090G= (p.Met1030=) c.2910G= (p.Met970=) n.3302G= | dbSNP |
| 6 | g.157174030G>C | CA366224356 | ARID1B | c.3258G>C (p.Met1086Ile) c.3168G>C (p.Met1056Ile) c.3387G>C (p.Met1129Ile) c.1272G>C (p.Met424Ile) c.3297G>C (p.Met1099Ile) c.3009G>C (p.Met1003Ile) c.1416G>C (p.Met472Ile) n.46G>C c.579G>C (p.Met193Ile) c.213G>C (p.Met71Ile) n.1255G>C c.626G>C n.530G>C c.540G>C n.83G>C c.759G>C (p.Met253Ile) c.3048G>C (p.Met1016Ile) c.1275G>C (p.Met425Ile) c.210G>C (p.Met70Ile) c.460G>C c.2088G>C (p.Met696Ile) c.1908G>C (p.Met636Ile) c.1668G>C (p.Met556Ile) c.1287G>C (p.Met429Ile) c.150G>C (p.Met50Ile) c.3219G>C (p.Met1073Ile) c.3120G>C (p.Met1040Ile) c.3090G>C (p.Met1030Ile) c.2910G>C (p.Met970Ile) n.3302G>C | dbSNP gnomAD v4 |