Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35345627G>ACA9377145CD22,MIR5196c.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
19g.35345627G>CCA405336394CD22,MIR5196c.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

Number of alleles fetched