Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.44107972T>GCA215090EXT2c.260T>G (p.Met87Arg)
n.419T>G
c.-544+12120T>G (n.-544+12120T>G)
n.434T>G
n.677T>G
n.2821T>G
c.359T>G (p.Met120Arg)
c.398T>G (p.Met133Arg)
c.299T>G (p.Met100Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.44107972T>ACA380179960EXT2c.260T>A (p.Met87Lys)
n.419T>A
c.-544+12120T>A (n.-544+12120T>A)
n.434T>A
n.677T>A
n.2821T>A
c.359T>A (p.Met120Lys)
c.398T>A (p.Met133Lys)
c.299T>A (p.Met100Lys)
dbSNP

Number of alleles fetched