Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35345627G>A | CA9377145 | CD22,MIR5196 | c.2234G>A (p.Gly745Asp) c.1703G>A (p.Gly568Asp) c.1718G>A (p.Gly573Asp) c.1970G>A (p.Gly657Asp) c.2208+501G>A (n.2208+501G>A) c.*1539G>A (n.*1539G>A) n.115G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35345627G>C | CA405336394 | CD22,MIR5196 | c.2234G>C (p.Gly745Ala) c.1703G>C (p.Gly568Ala) c.1718G>C (p.Gly573Ala) c.1970G>C (p.Gly657Ala) c.2208+501G>C (n.2208+501G>C) c.*1539G>C (n.*1539G>C) n.115G>C | dbSNP gnomAD v3 gnomAD v4 |