Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.210640045G>TCA2086804CPS1c.2945G>T (p.Gly982Val)
c.2963G>T (p.Gly988Val)
c.1592G>T (p.Gly531Val)
c.1425G>T
n.2090G>T
n.317G>T
c.2978G>T (p.Gly993Val)
n.3854G>T
n.2101G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210640045G>CCA350432633CPS1c.2945G>C (p.Gly982Ala)
c.2963G>C (p.Gly988Ala)
c.1592G>C (p.Gly531Ala)
c.1425G>C
n.2090G>C
n.317G>C
c.2978G>C (p.Gly993Ala)
n.3854G>C
n.2101G>C
dbSNP gnomAD v2 gnomAD v4
2g.210640045G>ACA115537CPS1c.2945G>A (p.Gly982Asp)
c.2963G>A (p.Gly988Asp)
c.1592G>A (p.Gly531Asp)
c.1425G>A
n.2090G>A
n.317G>A
c.2978G>A (p.Gly993Asp)
n.3854G>A
n.2101G>A
ClinVar dbSNP gnomAD v4

Number of alleles fetched