Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.34882130G>TCA174978DTNAc.1963G>T (p.Val655Phe)
c.2224G>T (p.Val742Phe)
c.1765G>T (p.Val589Phe)
c.1180G>T (p.Val394Phe)
c.1972G>T (p.Val658Phe)
c.2053G>T (p.Val685Phe)
c.1768G>T (p.Val590Phe)
c.*2064G>T (n.*2064G>T)
c.2011G>T (p.Val671Phe)
c.1960G>T (p.Val654Phe)
c.1123G>T (p.Val375Phe)
c.1270G>T (p.Val424Phe)
c.2143G>T (p.Val715Phe)
c.1984G>T (p.Val662Phe)
c.1099G>T (p.Val367Phe)
c.421G>T (p.Val141Phe)
c.1087G>T (p.Val363Phe)
n.42G>T
c.1009G>T (p.Val337Phe)
c.1213G>T (p.Val405Phe)
c.2245G>T (p.Val749Phe)
c.2155G>T (p.Val719Phe)
c.2074G>T (p.Val692Phe)
c.2071G>T (p.Val691Phe)
c.2041G>T (p.Val681Phe)
c.1291G>T (p.Val431Phe)
c.2254G>T (p.Val752Phe)
c.2233G>T (p.Val745Phe)
c.2164G>T (p.Val722Phe)
c.2161G>T (p.Val721Phe)
c.2083G>T (p.Val695Phe)
c.1993G>T (p.Val665Phe)
c.1300G>T (p.Val434Phe)
c.1120G>T (p.Val374Phe)
c.1030G>T (p.Val344Phe)
c.1027G>T (p.Val343Phe)
c.2251G>T (p.Val751Phe)
c.1969G>T (p.Val657Phe)
c.2050G>T (p.Val684Phe)
n.2626G>T
n.2716G>T
n.2623G>T
n.2713G>T
n.2233G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.34882130G=CA2295378496DTNAc.1963G= (p.Val655=)
c.2224G= (p.Val742=)
c.1765G= (p.Val589=)
c.1180G= (p.Val394=)
c.1972G= (p.Val658=)
c.2053G= (p.Val685=)
c.1768G= (p.Val590=)
c.*2064G= (n.*2064G=)
c.2011G= (p.Val671=)
c.1960G= (p.Val654=)
c.1123G= (p.Val375=)
c.1270G= (p.Val424=)
c.2143G= (p.Val715=)
c.1984G= (p.Val662=)
c.1099G= (p.Val367=)
c.421G= (p.Val141=)
c.1087G= (p.Val363=)
n.42G=
c.1009G= (p.Val337=)
c.1213G= (p.Val405=)
c.2245G= (p.Val749=)
c.2155G= (p.Val719=)
c.2074G= (p.Val692=)
c.2071G= (p.Val691=)
c.2041G= (p.Val681=)
c.1291G= (p.Val431=)
c.2254G= (p.Val752=)
c.2233G= (p.Val745=)
c.2164G= (p.Val722=)
c.2161G= (p.Val721=)
c.2083G= (p.Val695=)
c.1993G= (p.Val665=)
c.1300G= (p.Val434=)
c.1120G= (p.Val374=)
c.1030G= (p.Val344=)
c.1027G= (p.Val343=)
c.2251G= (p.Val751=)
c.1969G= (p.Val657=)
c.2050G= (p.Val684=)
n.2626G=
n.2716G=
n.2623G=
n.2713G=
n.2233G=
 dbSNP

Number of alleles fetched