Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.115041016C>TCA149711TNCc.509G>A
c.3406G>A (p.Val1136Met)
c.4228G>A (p.Val1410Met)
c.2260G>A (p.Val754Met)
c.916G>A (p.Val306Met)
c.4275G>A
c.5317G>A (p.Val1773Met)
c.4771G>A (p.Val1591Met)
c.4498G>A (p.Val1500Met)
n.444G>A
n.231G>A
c.1004G>A
c.5044G>A (p.Val1682Met)
c.4225G>A (p.Val1409Met)
c.3679G>A (p.Val1227Met)
c.5593G>A (p.Val1865Met)
c.5320G>A (p.Val1774Met)
c.4774G>A (p.Val1592Met)
c.4501G>A (p.Val1501Met)
c.3952G>A (p.Val1318Met)
c.5866G>A (p.Val1956Met)
c.5590G>A (p.Val1864Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115041016C=CA1874116339TNCc.509G=
c.3406G= (p.Val1136=)
c.4228G= (p.Val1410=)
c.2260G= (p.Val754=)
c.916G= (p.Val306=)
c.4275G=
c.5317G= (p.Val1773=)
c.4771G= (p.Val1591=)
c.4498G= (p.Val1500=)
n.444G=
n.231G=
c.1004G=
c.5044G= (p.Val1682=)
c.4225G= (p.Val1409=)
c.3679G= (p.Val1227=)
c.5593G= (p.Val1865=)
c.5320G= (p.Val1774=)
c.4774G= (p.Val1592=)
c.4501G= (p.Val1501=)
c.3952G= (p.Val1318=)
c.5866G= (p.Val1956=)
c.5590G= (p.Val1864=)
dbSNP

Number of alleles fetched