Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21833550C>G | CA19097983 | HSPG2 | c.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 |
1 | g.21833550C>T | CA669987 | HSPG2 | c.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 |
1 | g.21833550C>A | CA19097954 | HSPG2 | c.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 |