Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.8733916G>CCA215224CAV3,SSUH2c.40G>C (p.Val14Leu)
c.64+8543C>G (p.=)
n.81G>C
n.335+8543C>G
n.330+8543C>G
c.-283+8543C>G (p.=)
ClinVar dbSNP
3g.8733916G>ACA175387CAV3,SSUH2c.40G>A (p.Val14Ile)
c.64+8543C>T (p.=)
n.81G>A
n.335+8543C>T
n.330+8543C>T
c.-283+8543C>T (p.=)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched