Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508282T>CCA251786MMACHCc.347T>C (p.Leu116Pro)
c.176T>C (p.Leu59Pro)
c.152T>C (p.Leu51Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508282T=CA1141580769MMACHCc.347T= (p.Leu116=)
c.176T= (p.Leu59=)
c.152T= (p.Leu51=)
 dbSNP

Number of alleles fetched