Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.45996638C>TCA8618064MAPTc.1801C>T (p.Leu601=)
c.709C>T (p.Leu237=)
c.796C>T (p.Leu266=)
c.622C>T (p.Leu208=)
c.1747C>T (p.Leu583=)
c.2059C>T (p.Leu687=)
c.1972C>T (p.Leu658=)
c.1885C>T (p.Leu629=)
c.1861C>T (p.Leu621=)
c.994C>T (p.Leu332=)
c.907C>T (p.Leu303=)
c.820C>T (p.Leu274=)
n.1801C>T (p.Leu601=)
n.709C>T (p.Leu237=)
n.796C>T (p.Leu266=)
n.750C>T
n.1747C>T (p.Leu583=)
n.6081C>T
dbSNP ExAC gnomAD
17g.45996638C>GCA225417MAPTc.1801C>G (p.Leu601Val)
c.709C>G (p.Leu237Val)
c.796C>G (p.Leu266Val)
c.622C>G (p.Leu208Val)
c.1747C>G (p.Leu583Val)
c.2059C>G (p.Leu687Val)
c.1972C>G (p.Leu658Val)
c.1885C>G (p.Leu629Val)
c.1861C>G (p.Leu621Val)
c.994C>G (p.Leu332Val)
c.907C>G (p.Leu303Val)
c.820C>G (p.Leu274Val)
n.1801C>G (p.Leu601Val)
n.709C>G (p.Leu237Val)
n.796C>G (p.Leu266Val)
n.750C>G
n.1747C>G (p.Leu583Val)
n.6081C>G
ClinVar dbSNP

Number of alleles fetched