| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.157133100C>T | CA236273 | ARID1B | c.2654C>T (p.Ser885Leu) c.2564C>T (p.Ser855Leu) c.668C>T (p.Ser223Leu) c.2693C>T (p.Ser898Leu) c.2405C>T (p.Ser802Leu) c.812C>T (p.Ser271Leu) n.555C>T c.83-15524C>T (n.83-15524C>T) c.155C>T (p.Ser52Leu) c.2444C>T (p.Ser815Leu) n.1403C>T c.671C>T (p.Ser224Leu) n.501C>T c.1355C>T (p.Ser452Leu) c.1283-15524C>T (n.1283-15524C>T) c.935C>T (p.Ser312Leu) c.554C>T (p.Ser185Leu) c.2486C>T (p.Ser829Leu) c.2414-15524C>T (n.2414-15524C>T) n.2569C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.157133100C>A | CA366388348 | ARID1B | c.2654C>A (p.Ser885Ter) c.2564C>A (p.Ser855Ter) c.668C>A (p.Ser223Ter) c.2693C>A (p.Ser898Ter) c.2405C>A (p.Ser802Ter) c.812C>A (p.Ser271Ter) n.555C>A c.83-15524C>A (n.83-15524C>A) c.155C>A (p.Ser52Ter) c.2444C>A (p.Ser815Ter) n.1403C>A c.671C>A (p.Ser224Ter) n.501C>A c.1355C>A (p.Ser452Ter) c.1283-15524C>A (n.1283-15524C>A) c.935C>A (p.Ser312Ter) c.554C>A (p.Ser185Ter) c.2486C>A (p.Ser829Ter) c.2414-15524C>A (n.2414-15524C>A) n.2569C>A | dbSNP |
| 6 | g.157133100C>G | CA366388349 | ARID1B | c.2654C>G (p.Ser885Trp) c.2564C>G (p.Ser855Trp) c.668C>G (p.Ser223Trp) c.2693C>G (p.Ser898Trp) c.2405C>G (p.Ser802Trp) c.812C>G (p.Ser271Trp) n.555C>G c.83-15524C>G (n.83-15524C>G) c.155C>G (p.Ser52Trp) c.2444C>G (p.Ser815Trp) n.1403C>G c.671C>G (p.Ser224Trp) n.501C>G c.1355C>G (p.Ser452Trp) c.1283-15524C>G (n.1283-15524C>G) c.935C>G (p.Ser312Trp) c.554C>G (p.Ser185Trp) c.2486C>G (p.Ser829Trp) c.2414-15524C>G (n.2414-15524C>G) n.2569C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |