Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.50319743G>A | CA433691095 | HYAL2 | c.747C>T (p.Phe249=) n.882C>T | gnomAD v4 |
3 | g.50319743G>C | CA352907682 | HYAL2 | c.747C>G (p.Phe249Leu) n.882C>G | |
3 | g.50319743G>T | CA352907686 | HYAL2 | c.747C>A (p.Phe249Leu) n.882C>A | |
3 | g.50319744A>C | CA352907689 | HYAL2 | c.746T>G (p.Phe249Cys) n.881T>G | |
3 | g.50319744A>G | CA352907692 | HYAL2 | c.746T>C (p.Phe249Ser) n.881T>C | |
3 | g.50319744A>T | CA352907695 | HYAL2 | c.746T>A (p.Phe249Tyr) n.881T>A | |
3 | g.50319745A>C | CA352907703 | HYAL2 | c.745T>G (p.Phe249Val) n.880T>G | |
3 | g.50319745A>G | CA352907700 | HYAL2 | c.745T>C (p.Phe249Leu) n.880T>C | |
3 | g.50319745A>T | CA352907702 | HYAL2 | c.745T>A (p.Phe249Ile) n.880T>A | |
3 | g.50319746G>A | CA433691098 | HYAL2 | c.744C>T (p.Leu248=) n.879C>T | dbSNP |
3 | g.50319746G>C | CA433691100 | HYAL2 | c.744C>G (p.Leu248=) n.879C>G | |
3 | g.50319746G= | CA1363891834 | HYAL2 | c.744C= (p.Leu248=) n.879C= | |
3 | g.50319746G>T | CA433691101 | HYAL2 | c.744C>A (p.Leu248=) n.879C>A | |
3 | g.50319747A>C | CA352907706 | HYAL2 | c.743T>G (p.Leu248Arg) n.878T>G | |
3 | g.50319747A>G | CA352907709 | HYAL2 | c.743T>C (p.Leu248Pro) n.878T>C | |
3 | g.50319747A>T | CA352907717 | HYAL2 | c.743T>A (p.Leu248His) n.878T>A | |
3 | g.50319748G>A | CA352909254 | HYAL2 | c.742C>T (p.Leu248Phe) n.877C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.50319748G>C | CA352909256 | HYAL2 | c.742C>G (p.Leu248Val) n.877C>G | |
3 | g.50319748G= | CA1363891837 | HYAL2 | c.742C= (p.Leu248=) n.877C= | |
3 | g.50319748G>T | CA352909259 | HYAL2 | c.742C>A (p.Leu248Ile) n.877C>A | |
3 | g.50319749G>A | CA433864272 | HYAL2 | c.741C>T (p.Ala247=) n.876C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.50319749G>C | CA433864273 | HYAL2 | c.741C>G (p.Ala247=) n.876C>G | |
3 | g.50319749G= | CA1363891840 | HYAL2 | c.741C= (p.Ala247=) n.876C= | |
3 | g.50319749G>T | CA433864274 | HYAL2 | c.741C>A (p.Ala247=) n.876C>A | |
3 | g.50319750G>A | CA352909269 | HYAL2 | c.740C>T (p.Ala247Val) n.875C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.50319750G>C | CA352909262 | HYAL2 | c.740C>G (p.Ala247Gly) n.875C>G | |
3 | g.50319750G= | CA1363891843 | HYAL2 | c.740C= (p.Ala247=) n.875C= | |
3 | g.50319750G>T | CA352909264 | HYAL2 | c.740C>A (p.Ala247Asp) n.875C>A | |
3 | g.50319751C>A | CA352909272 | HYAL2 | c.739G>T (p.Ala247Ser) n.874G>T | dbSNP gnomAD v4 |
3 | g.50319751C= | CA1363891846 | HYAL2 | c.739G= (p.Ala247=) n.874G= | |
3 | g.50319751C>G | CA352909275 | HYAL2 | c.739G>C (p.Ala247Pro) n.874G>C | |
3 | g.50319751C>T | CA352909277 | HYAL2 | c.739G>A (p.Ala247Thr) n.874G>A | dbSNP |
3 | g.50319752C>A | CA2416246 | HYAL2 | c.738G>T (p.Thr246=) n.873G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.50319752C= | CA1363891848 | HYAL2 | c.738G= (p.Thr246=) n.873G= | |
3 | g.50319752C>G | CA433864284 | HYAL2 | c.738G>C (p.Thr246=) n.873G>C | gnomAD v4 |
3 | g.50319752C>T | CA2416245 | HYAL2 | c.738G>A (p.Thr246=) n.873G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.50319753G>A | CA2416247 | HYAL2 | c.737C>T (p.Thr246Met) n.872C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.50319753G>C | CA352909285 | HYAL2 | c.737C>G (p.Thr246Arg) n.872C>G | |
3 | g.50319753G= | CA1363891850 | HYAL2 | c.737C= (p.Thr246=) n.872C= | |
3 | g.50319753G>T | CA352909288 | HYAL2 | c.737C>A (p.Thr246Lys) n.872C>A | |
3 | g.50319754T>A | CA352909292 | HYAL2 | c.736A>T (p.Thr246Ser) n.871A>T | |
3 | g.50319754T>C | CA352909294 | HYAL2 | c.736A>G (p.Thr246Ala) n.871A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.50319754T>G | CA352909297 | HYAL2 | c.736A>C (p.Thr246Pro) n.871A>C | |
3 | g.50319754T= | CA1363891853 | HYAL2 | c.736A= (p.Thr246=) n.871A= | |
3 | g.50319755G>A | CA433864290 | HYAL2 | c.735C>T (p.Ser245=) n.870C>T | |
3 | g.50319755G>C | CA352909300 | HYAL2 | c.735C>G (p.Ser245Arg) n.870C>G | |
3 | g.50319755G>T | CA352909303 | HYAL2 | c.735C>A (p.Ser245Arg) n.870C>A | |
3 | g.50319756C>A | CA352909305 | HYAL2 | c.734G>T (p.Ser245Ile) n.869G>T | |
3 | g.50319756C= | CA1363891855 | HYAL2 | c.734G= (p.Ser245=) n.869G= | |
3 | g.50319756C>G | CA352909308 | HYAL2 | c.734G>C (p.Ser245Thr) n.869G>C |