Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.8733975C>GCA119446CAV3,SSUH2c.99C>G (p.Asn33Lys)
n.330+8484G>C
c.-283+8484G>C (p.=)
c.64+8484G>C (p.=)
n.140C>G
n.335+8484G>C
ClinVar dbSNP
3g.8733975C>TCA138581CAV3,SSUH2c.99C>T (p.Asn33=)
n.330+8484G>A
c.-283+8484G>A (p.=)
c.64+8484G>A (p.=)
n.140C>T
n.335+8484G>A
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched