Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.77683154C>GCA413714748ATRXc.2102G>C (p.Arg701Pro)
c.1988G>C (p.Arg663Pro)
c.*1730G>C (n.*1730G>C)
c.2015G>C (p.Arg672Pro)
c.1898G>C (p.Arg633Pro)
c.2099G>C (p.Arg700Pro)
c.1985G>C (p.Arg662Pro)
c.1937G>C (p.Arg646Pro)
c.1823G>C (p.Arg608Pro)
n.2370G>C
c.2012G>C (p.Arg671Pro)
c.1982G>C (p.Arg661Pro)
c.1934G>C (p.Arg645Pro)
c.1901G>C (p.Arg634Pro)
c.1871G>C (p.Arg624Pro)
c.1868G>C (p.Arg623Pro)
c.1820G>C (p.Arg607Pro)
c.1784G>C (p.Arg595Pro)
c.1781G>C (p.Arg594Pro)
c.1736G>C (p.Arg579Pro)
n.2327G>C
dbSNP
Xg.77683154C>ACA413714747ATRXc.2102G>T (p.Arg701Leu)
c.1988G>T (p.Arg663Leu)
c.*1730G>T (n.*1730G>T)
c.2015G>T (p.Arg672Leu)
c.1898G>T (p.Arg633Leu)
c.2099G>T (p.Arg700Leu)
c.1985G>T (p.Arg662Leu)
c.1937G>T (p.Arg646Leu)
c.1823G>T (p.Arg608Leu)
n.2370G>T
c.2012G>T (p.Arg671Leu)
c.1982G>T (p.Arg661Leu)
c.1934G>T (p.Arg645Leu)
c.1901G>T (p.Arg634Leu)
c.1871G>T (p.Arg624Leu)
c.1868G>T (p.Arg623Leu)
c.1820G>T (p.Arg607Leu)
c.1784G>T (p.Arg595Leu)
c.1781G>T (p.Arg594Leu)
c.1736G>T (p.Arg579Leu)
n.2327G>T
dbSNP gnomAD v2
Xg.77683154C>TCA236355ATRXc.2102G>A (p.Arg701His)
c.1988G>A (p.Arg663His)
c.*1730G>A (n.*1730G>A)
c.2015G>A (p.Arg672His)
c.1898G>A (p.Arg633His)
c.2099G>A (p.Arg700His)
c.1985G>A (p.Arg662His)
c.1937G>A (p.Arg646His)
c.1823G>A (p.Arg608His)
n.2370G>A
c.2012G>A (p.Arg671His)
c.1982G>A (p.Arg661His)
c.1934G>A (p.Arg645His)
c.1901G>A (p.Arg634His)
c.1871G>A (p.Arg624His)
c.1868G>A (p.Arg623His)
c.1820G>A (p.Arg607His)
c.1784G>A (p.Arg595His)
c.1781G>A (p.Arg594His)
c.1736G>A (p.Arg579His)
n.2327G>A
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched