Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
3 | g.50319756C>T | CA2416248 | HYAL2 | c.734G>A (p.Ser245Asn) n.869G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.50319757T>A | CA352909311 | HYAL2 | c.733A>T (p.Ser245Cys) n.868A>T | |
3 | g.50319757T>C | CA352909313 | HYAL2 | c.733A>G (p.Ser245Gly) n.868A>G | |
3 | g.50319757T>G | CA352909316 | HYAL2 | c.733A>C (p.Ser245Arg) n.868A>C | |
3 | g.50319758C>A | CA352909319 | HYAL2 | c.732G>T (p.Glu244Asp) n.867G>T | |
3 | g.50319758C= | CA1363891857 | HYAL2 | c.732G= (p.Glu244=) n.867G= | |
3 | g.50319758C>G | CA74612591 | HYAL2 | c.732G>C (p.Glu244Asp) n.867G>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.50319758C>T | CA433864294 | HYAL2 | c.732G>A (p.Glu244=) n.867G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.50319759T>A | CA352909324 | HYAL2 | c.731A>T (p.Glu244Val) n.866A>T | |
3 | g.50319759T>C | CA352909326 | HYAL2 | c.731A>G (p.Glu244Gly) n.866A>G | gnomAD v4 |
3 | g.50319759T>G | CA352909325 | HYAL2 | c.731A>C (p.Glu244Ala) n.866A>C | |
3 | g.50319760C>A | CA352909327 | HYAL2 | c.730G>T (p.Glu244Ter) n.865G>T | |
3 | g.50319760C>G | CA352909330 | HYAL2 | c.730G>C (p.Glu244Gln) n.865G>C | gnomAD v4 |
3 | g.50319760C>T | CA352909333 | HYAL2 | c.730G>A (p.Glu244Lys) n.865G>A | COSMIC |
3 | g.50319761A>C | CA433864297 | HYAL2 | c.729T>G (p.Ala243=) n.864T>G | |
3 | g.50319761A>G | CA433864298 | HYAL2 | c.729T>C (p.Ala243=) n.864T>C |