Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127423176G>ACA55345314PROCc.400+5G>A (p.=)
c.405G>A (p.Glu135=)
c.*211G>A (p.=)
c.583+5G>A (p.=)
c.468G>A (p.Glu156=)
c.463+5G>A (p.=)
c.643+5G>A (p.=)
c.648G>A (p.Glu216=)
c.588G>A (p.Glu196=)
c.560G>A (p.Arg187Lys)
c.489G>A (p.Glu163=)
c.376+5G>A (p.=)
c.394+5G>A (p.=)
dbSNP
2g.127423176G>CCA1859328PROCc.400+5G>C (p.=)
c.405G>C (p.Glu135Asp)
c.*211G>C (p.=)
c.583+5G>C (p.=)
c.468G>C (p.Glu156Asp)
c.463+5G>C (p.=)
c.643+5G>C (p.=)
c.648G>C (p.Glu216Asp)
c.588G>C (p.Glu196Asp)
c.560G>C (p.Arg187Thr)
c.489G>C (p.Glu163Asp)
c.376+5G>C (p.=)
c.394+5G>C (p.=)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched