| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11041349C>A | CA505743800 | SMARCA4 | c.4309C>A (p.Arg1437=) c.4213C>A (p.Arg1405=) c.4114C>A (p.Arg1372=) c.380C>A c.340C>A (p.Arg114=) c.154C>A (p.Arg52=) n.2454C>A c.2707C>A (p.Arg903=) c.1670C>A c.4210C>A (p.Arg1404=) c.2770C>A (p.Arg924=) c.4123C>A (p.Arg1375=) c.2498C>A c.4219C>A (p.Arg1407=) c.2577C>A n.706C>A c.3636C>A c.2850C>A c.2885C>A c.2867C>A c.2701C>A (p.Arg901=) c.762C>A c.2124C>A (n.2124C>A) c.2556C>A c.2061C>A (n.2061C>A) c.2513C>A n.716C>A c.2467C>A (p.Arg823=) c.4315C>A (p.Arg1439=) n.527C>A n.2651C>A n.2186C>A c.292C>A (p.Arg98=) n.2036C>A c.4222C>A (p.Arg1408=) n.4603C>A | dbSNP |
| 19 | g.11041349C>T | CA16043066 | SMARCA4 | c.4309C>T (p.Arg1437Trp) c.4213C>T (p.Arg1405Trp) c.4114C>T (p.Arg1372Trp) c.380C>T c.340C>T (p.Arg114Trp) c.154C>T (p.Arg52Trp) n.2454C>T c.2707C>T (p.Arg903Trp) c.1670C>T c.4210C>T (p.Arg1404Trp) c.2770C>T (p.Arg924Trp) c.4123C>T (p.Arg1375Trp) c.2498C>T c.4219C>T (p.Arg1407Trp) c.2577C>T n.706C>T c.3636C>T c.2850C>T c.2885C>T c.2867C>T c.2701C>T (p.Arg901Trp) c.762C>T c.2124C>T (n.2124C>T) c.2556C>T c.2061C>T (n.2061C>T) c.2513C>T n.716C>T c.2467C>T (p.Arg823Trp) c.4315C>T (p.Arg1439Trp) n.527C>T n.2651C>T n.2186C>T c.292C>T (p.Arg98Trp) n.2036C>T c.4222C>T (p.Arg1408Trp) n.4603C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11041349C>G | CA404072925 | SMARCA4 | c.4309C>G (p.Arg1437Gly) c.4213C>G (p.Arg1405Gly) c.4114C>G (p.Arg1372Gly) c.380C>G c.340C>G (p.Arg114Gly) c.154C>G (p.Arg52Gly) n.2454C>G c.2707C>G (p.Arg903Gly) c.1670C>G c.4210C>G (p.Arg1404Gly) c.2770C>G (p.Arg924Gly) c.4123C>G (p.Arg1375Gly) c.2498C>G c.4219C>G (p.Arg1407Gly) c.2577C>G n.706C>G c.3636C>G c.2850C>G c.2885C>G c.2867C>G c.2701C>G (p.Arg901Gly) c.762C>G c.2124C>G (n.2124C>G) c.2556C>G c.2061C>G (n.2061C>G) c.2513C>G n.716C>G c.2467C>G (p.Arg823Gly) c.4315C>G (p.Arg1439Gly) n.527C>G n.2651C>G n.2186C>G c.292C>G (p.Arg98Gly) n.2036C>G c.4222C>G (p.Arg1408Gly) n.4603C>G | dbSNP |