Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.71216733C>TCA254271EYA1c.1319G>A (p.Arg440Gln)
c.1217G>A (p.Arg406Gln)
c.1214G>A (p.Arg405Gln)
c.*598G>A (n.*598G>A)
c.709G>A
n.1782G>A
c.*996G>A (n.*996G>A)
c.1406G>A (p.Arg469Gln)
c.1301G>A (p.Arg434Gln)
n.389G>A
c.1298G>A (p.Arg433Gln)
c.1220G>A (p.Arg407Gln)
c.1316G>A (p.Arg439Gln)
c.*264G>A (n.*264G>A)
n.1814G>A
c.953G>A (p.Arg318Gln)
c.1391G>A (p.Arg464Gln)
c.1304G>A (p.Arg435Gln)
c.1256G>A (p.Arg419Gln)
c.968G>A (p.Arg323Gln)
c.1403G>A (p.Arg468Gln)
c.1388G>A (p.Arg463Gln)
 ClinVar dbSNP
8g.71216733C>GCA371466658EYA1c.1319G>C (p.Arg440Pro)
c.1217G>C (p.Arg406Pro)
c.1214G>C (p.Arg405Pro)
c.*598G>C (n.*598G>C)
c.709G>C
n.1782G>C
c.*996G>C (n.*996G>C)
c.1406G>C (p.Arg469Pro)
c.1301G>C (p.Arg434Pro)
n.389G>C
c.1298G>C (p.Arg433Pro)
c.1220G>C (p.Arg407Pro)
c.1316G>C (p.Arg439Pro)
c.*264G>C (n.*264G>C)
n.1814G>C
c.953G>C (p.Arg318Pro)
c.1391G>C (p.Arg464Pro)
c.1304G>C (p.Arg435Pro)
c.1256G>C (p.Arg419Pro)
c.968G>C (p.Arg323Pro)
c.1403G>C (p.Arg468Pro)
c.1388G>C (p.Arg463Pro)
 dbSNP gnomAD v4
8g.71216733C>ACA371466657EYA1c.1319G>T (p.Arg440Leu)
c.1217G>T (p.Arg406Leu)
c.1214G>T (p.Arg405Leu)
c.*598G>T (n.*598G>T)
c.709G>T
n.1782G>T
c.*996G>T (n.*996G>T)
c.1406G>T (p.Arg469Leu)
c.1301G>T (p.Arg434Leu)
n.389G>T
c.1298G>T (p.Arg433Leu)
c.1220G>T (p.Arg407Leu)
c.1316G>T (p.Arg439Leu)
c.*264G>T (n.*264G>T)
n.1814G>T
c.953G>T (p.Arg318Leu)
c.1391G>T (p.Arg464Leu)
c.1304G>T (p.Arg435Leu)
c.1256G>T (p.Arg419Leu)
c.968G>T (p.Arg323Leu)
c.1403G>T (p.Arg468Leu)
c.1388G>T (p.Arg463Leu)
 dbSNP gnomAD v4
8g.71216733C=CA1792692751EYA1c.1319G= (p.Arg440=)
c.1217G= (p.Arg406=)
c.1214G= (p.Arg405=)
c.*598G= (n.*598G=)
c.709G=
n.1782G=
c.*996G= (n.*996G=)
c.1406G= (p.Arg469=)
c.1301G= (p.Arg434=)
n.389G=
c.1298G= (p.Arg433=)
c.1220G= (p.Arg407=)
c.1316G= (p.Arg439=)
c.*264G= (n.*264G=)
n.1814G=
c.953G= (p.Arg318=)
c.1391G= (p.Arg464=)
c.1304G= (p.Arg435=)
c.1256G= (p.Arg419=)
c.968G= (p.Arg323=)
c.1403G= (p.Arg468=)
c.1388G= (p.Arg463=)
 dbSNP

Number of alleles fetched