Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.50319650del | CA2756211178 | HYAL2 | c.840del (p.Thr281ProfsTer?) n.975del | |
3 | g.50319650G>A | CA433690731 | HYAL2 | c.840C>T (p.Arg280=) n.975C>T | |
3 | g.50319650G>C | CA433690732 | HYAL2 | c.840C>G (p.Arg280=) n.975C>G | |
3 | g.50319650G>T | CA433690733 | HYAL2 | c.840C>A (p.Arg280=) n.975C>A | |
3 | g.50319651C>A | CA352907053 | HYAL2 | c.839G>T (p.Arg280Leu) n.974G>T | gnomAD v4 |
3 | g.50319651C= | CA1363891753 | HYAL2 | c.839G= (p.Arg280=) n.974G= | |
3 | g.50319651C>G | CA2416224 | HYAL2 | c.839G>C (p.Arg280Pro) n.974G>C | dbSNP ExAC gnomAD v4 |
3 | g.50319651C>T | CA2416223 | HYAL2 | c.839G>A (p.Arg280His) n.974G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.50319652del | CA2756211179 | HYAL2 | c.838del (p.Arg280AlafsTer?) n.973del | |
3 | g.50319652G>A | CA2416225 | HYAL2 | c.838C>T (p.Arg280Cys) n.973C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.50319652G>C | CA352907059 | HYAL2 | c.838C>G (p.Arg280Gly) n.973C>G | dbSNP |
3 | g.50319652G= | CA1363891754 | HYAL2 | c.838C= (p.Arg280=) n.973C= | |
3 | g.50319652G>T | CA352907062 | HYAL2 | c.838C>A (p.Arg280Ser) n.973C>A | |
3 | g.50319653A>C | CA433690747 | HYAL2 | c.837T>G (p.Ala279=) n.972T>G | |
3 | g.50319653A>G | CA433690748 | HYAL2 | c.837T>C (p.Ala279=) n.972T>C | gnomAD v4 |
3 | g.50319653A>T | CA433690749 | HYAL2 | c.837T>A (p.Ala279=) n.972T>A | |
3 | g.50319654G>A | CA352907066 | HYAL2 | c.836C>T (p.Ala279Val) n.971C>T | |
3 | g.50319654G>C | CA352907068 | HYAL2 | c.836C>G (p.Ala279Gly) n.971C>G | gnomAD v4 |
3 | g.50319654G>T | CA352907072 | HYAL2 | c.836C>A (p.Ala279Asp) n.971C>A | |
3 | g.50319655C>A | CA352907078 | HYAL2 | c.835G>T (p.Ala279Ser) n.970G>T | |
3 | g.50319655C>G | CA352907076 | HYAL2 | c.835G>C (p.Ala279Pro) n.970G>C | |
3 | g.50319655C>T | CA352907075 | HYAL2 | c.835G>A (p.Ala279Thr) n.970G>A | |
3 | g.50319656C>A | CA433690759 | HYAL2 | c.834G>T (p.Val278=) n.969G>T | |
3 | g.50319656C>G | CA433690760 | HYAL2 | c.834G>C (p.Val278=) n.969G>C | |
3 | g.50319656C>T | CA433690762 | HYAL2 | c.834G>A (p.Val278=) n.969G>A | |
3 | g.50319657A>C | CA352907081 | HYAL2 | c.833T>G (p.Val278Gly) n.968T>G | |
3 | g.50319657A>G | CA352907083 | HYAL2 | c.833T>C (p.Val278Ala) n.968T>C | |
3 | g.50319657A>T | CA352907086 | HYAL2 | c.833T>A (p.Val278Glu) n.968T>A | |
3 | g.50319658C>A | CA352907088 | HYAL2 | c.832G>T (p.Val278Leu) n.967G>T | |
3 | g.50319658C>G | CA352907093 | HYAL2 | c.832G>C (p.Val278Leu) n.967G>C | |
3 | g.50319658C>T | CA352907096 | HYAL2 | c.832G>A (p.Val278Met) n.967G>A | |
3 | g.50319659A= | CA1363891755 | HYAL2 | c.831T= (p.Arg277=) n.966T= | |
3 | g.50319659A>C | CA433690770 | HYAL2 | c.831T>G (p.Arg277=) n.966T>G | |
3 | g.50319659A>G | CA433690768 | HYAL2 | c.831T>C (p.Arg277=) n.966T>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.50319659A>T | CA433690766 | HYAL2 | c.831T>A (p.Arg277=) n.966T>A | |
3 | g.50319660C>A | CA352907099 | HYAL2 | c.830G>T (p.Arg277Leu) n.965G>T | gnomAD v4 |
3 | g.50319660C= | CA1363891756 | HYAL2 | c.830G= (p.Arg277=) n.965G= | |
3 | g.50319660C>G | CA352907101 | HYAL2 | c.830G>C (p.Arg277Pro) n.965G>C | |
3 | g.50319660C>T | CA2416226 | HYAL2 | c.830G>A (p.Arg277His) n.965G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.50319661G>A | CA2416227 | HYAL2 | c.829C>T (p.Arg277Cys) n.964C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.50319661G>C | CA352907106 | HYAL2 | c.829C>G (p.Arg277Gly) n.964C>G | |
3 | g.50319661G= | CA1363891757 | HYAL2 | c.829C= (p.Arg277=) n.964C= | |
3 | g.50319661G>T | CA352907108 | HYAL2 | c.829C>A (p.Arg277Ser) n.964C>A | gnomAD v4 |
3 | g.50319662A= | CA1363891758 | HYAL2 | c.828T= (p.Leu276=) n.963T= | |
3 | g.50319662A>C | CA2416228 | HYAL2 | c.828T>G (p.Leu276=) n.963T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.50319662A>G | CA433690779 | HYAL2 | c.828T>C (p.Leu276=) n.963T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.50319662A>T | CA433690777 | HYAL2 | c.828T>A (p.Leu276=) n.963T>A | |
3 | g.50319663dup | CA1363891759 | HYAL2 | c.828dup (p.Arg277SerfsTer30) n.963dup | dbSNP |
3 | g.50319663A>C | CA352907116 | HYAL2 | c.827T>G (p.Leu276Arg) n.962T>G | |
3 | g.50319663A>G | CA352907113 | HYAL2 | c.827T>C (p.Leu276Pro) n.962T>C |