Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21833550C>GCA19097983HSPG2c.10895G>C (p.Arg3632Pro)
n.1250G>C
c.28G>C
c.10898G>C (p.Arg3633Pro)
c.11441G>C (p.Arg3814Pro)
c.11393G>C (p.Arg3798Pro)
c.11372G>C (p.Arg3791Pro)
c.11444G>C (p.Arg3815Pro)
c.11165G>C (p.Arg3722Pro)
c.10949G>C (p.Arg3650Pro)
c.11090G>C (p.Arg3697Pro)
c.11039G>C (p.Arg3680Pro)
c.11036G>C (p.Arg3679Pro)
dbSNP
1g.21833550C>TCA669987HSPG2c.10895G>A (p.Arg3632Gln)
n.1250G>A
c.28G>A
c.10898G>A (p.Arg3633Gln)
c.11441G>A (p.Arg3814Gln)
c.11393G>A (p.Arg3798Gln)
c.11372G>A (p.Arg3791Gln)
c.11444G>A (p.Arg3815Gln)
c.11165G>A (p.Arg3722Gln)
c.10949G>A (p.Arg3650Gln)
c.11090G>A (p.Arg3697Gln)
c.11039G>A (p.Arg3680Gln)
c.11036G>A (p.Arg3679Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21833550C>ACA19097954HSPG2c.10895G>T (p.Arg3632Leu)
n.1250G>T
c.28G>T
c.10898G>T (p.Arg3633Leu)
c.11441G>T (p.Arg3814Leu)
c.11393G>T (p.Arg3798Leu)
c.11372G>T (p.Arg3791Leu)
c.11444G>T (p.Arg3815Leu)
c.11165G>T (p.Arg3722Leu)
c.10949G>T (p.Arg3650Leu)
c.11090G>T (p.Arg3697Leu)
c.11039G>T (p.Arg3680Leu)
c.11036G>T (p.Arg3679Leu)
dbSNP

Number of alleles fetched