Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.134490192T>A | CA120895 | HPRT1 | c.389T>A (p.Val130Asp) n.547T>A n.347T>A c.407T>A (p.Val136Asp) | ClinVar dbSNP gnomAD v4 |
X | g.134490192T>C | CA414713768 | HPRT1 | c.389T>C (p.Val130Ala) n.547T>C n.347T>C c.407T>C (p.Val136Ala) | gnomAD v4 |
X | g.134490192T>G | CA414713769 | HPRT1 | c.389T>G (p.Val130Gly) n.547T>G n.347T>G c.407T>G (p.Val136Gly) | |
X | g.134490192T= | CA2459742209 | HPRT1 | c.389T= (p.Val130=) n.547T= n.347T= c.407T= (p.Val136=) | |
X | g.134490193C>A | CA518650074 | HPRT1 | c.390C>A (p.Val130=) n.548C>A n.348C>A c.408C>A (p.Val136=) | gnomAD v4 |
X | g.134490193C>G | CA518650075 | HPRT1 | c.390C>G (p.Val130=) n.548C>G n.348C>G c.408C>G (p.Val136=) | |
X | g.134490193C>T | CA518650076 | HPRT1 | c.390C>T (p.Val130=) n.548C>T n.348C>T c.408C>T (p.Val136=) | |
X | g.134490194T>A | CA414713770 | HPRT1 | c.391T>A (p.Leu131Met) n.549T>A n.349T>A c.409T>A (p.Leu137Met) | gnomAD v4 |
X | g.134490194T>C | CA518650077 | HPRT1 | c.391T>C (p.Leu131=) n.549T>C n.349T>C c.409T>C (p.Leu137=) | ClinVar gnomAD v4 |
X | g.134490194T>G | CA414713771 | HPRT1 | c.391T>G (p.Leu131Val) n.549T>G n.349T>G c.409T>G (p.Leu137Val) | |
X | g.134490195del | CA2580101544 | HPRT1 | c.392del (p.Leu131Ter) n.550del n.350del c.410del (p.Leu137Ter) | ClinVar |
X | g.134490195T>A | CA414713772 | HPRT1 | c.392T>A (p.Leu131Ter) n.550T>A n.350T>A c.410T>A (p.Leu137Ter) | |
X | g.134490195T>C | CA414713773 | HPRT1 | c.392T>C (p.Leu131Ser) n.550T>C n.350T>C c.410T>C (p.Leu137Ser) | gnomAD v4 |
X | g.134490195T>G | CA414713774 | HPRT1 | c.392T>G (p.Leu131Trp) n.550T>G n.350T>G c.410T>G (p.Leu137Trp) | |
X | g.134490196G>A | CA518650078 | HPRT1 | c.393G>A (p.Leu131=) n.551G>A n.351G>A c.411G>A (p.Leu137=) | gnomAD v4 |
X | g.134490196G>C | CA414713775 | HPRT1 | c.393G>C (p.Leu131Phe) n.551G>C n.351G>C c.411G>C (p.Leu137Phe) | |
X | g.134490196G>T | CA414713776 | HPRT1 | c.393G>T (p.Leu131Phe) n.551G>T n.351G>T c.411G>T (p.Leu137Phe) | gnomAD v4 |
X | g.134490198_134490204del | CA2695236036 | HPRT1 | c.395_401del (p.Ile132LysfsTer3) n.553_559del n.353_359del c.413_419del (p.Ile138LysfsTer3) | |
X | g.134490197A>C | CA414713777 | HPRT1 | c.394A>C (p.Ile132Leu) n.552A>C n.352A>C c.412A>C (p.Ile138Leu) | |
X | g.134490197A>G | CA414713778 | HPRT1 | c.394A>G (p.Ile132Val) n.552A>G n.352A>G c.412A>G (p.Ile138Val) | gnomAD v4 |
X | g.134490197A>T | CA414713779 | HPRT1 | c.394A>T (p.Ile132Phe) n.552A>T n.352A>T c.412A>T (p.Ile138Phe) | |
X | g.134490198T>A | CA414713781 | HPRT1 | c.395T>A (p.Ile132Asn) n.553T>A n.353T>A c.413T>A (p.Ile138Asn) | |
X | g.134490198T>C | CA414713782 | HPRT1 | c.395T>C (p.Ile132Thr) n.553T>C n.353T>C c.413T>C (p.Ile138Thr) | gnomAD v4 |
X | g.134490198T>G | CA414713780 | HPRT1 | c.395T>G (p.Ile132Ser) n.553T>G n.353T>G c.413T>G (p.Ile138Ser) | |
X | g.134490199_134490201del | CA2695236037 | HPRT1 | c.396_398del (p.Ile132_Val133delinsMet) n.554_556del n.354_356del c.414_416del (p.Ile138_Val139delinsMet) | |
X | g.134490198_134490199insC | CA2566996451 | HPRT1 | c.395_396insC (p.Val133CysfsTer6) n.553_554insC n.353_354insC c.413_414insC (p.Val139CysfsTer6) | |
X | g.134490199T>A | CA518650080 | HPRT1 | c.396T>A (p.Ile132=) n.554T>A n.354T>A c.414T>A (p.Ile138=) | gnomAD v4 |
X | g.134490199T>C | CA518650079 | HPRT1 | c.396T>C (p.Ile132=) n.554T>C n.354T>C c.414T>C (p.Ile138=) | gnomAD v4 |
X | g.134490199T>G | CA120887 | HPRT1 | c.396T>G (p.Ile132Met) n.554T>G n.354T>G c.414T>G (p.Ile138Met) | ClinVar dbSNP |
X | g.134490199T= | CA2459742210 | HPRT1 | c.396T= (p.Ile132=) n.554T= n.354T= c.414T= (p.Ile138=) | |
X | g.134490200G>A | CA414713783 | HPRT1 | c.397G>A (p.Val133Met) n.555G>A n.355G>A c.415G>A (p.Val139Met) | gnomAD v4 |
X | g.134490200G>C | CA414713784 | HPRT1 | c.397G>C (p.Val133Leu) n.555G>C n.355G>C c.415G>C (p.Val139Leu) | gnomAD v4 |
X | g.134490200G>T | CA414713785 | HPRT1 | c.397G>T (p.Val133Leu) n.555G>T n.355G>T c.415G>T (p.Val139Leu) | gnomAD v4 |
X | g.134490201T>A | CA414713786 | HPRT1 | c.398T>A (p.Val133Glu) n.556T>A n.356T>A c.416T>A (p.Val139Glu) | gnomAD v4 |
X | g.134490201T>C | CA414713787 | HPRT1 | c.398T>C (p.Val133Ala) n.556T>C n.356T>C c.416T>C (p.Val139Ala) | gnomAD v4 COSMIC |
X | g.134490201T>G | CA414713788 | HPRT1 | c.398T>G (p.Val133Gly) n.556T>G n.356T>G c.416T>G (p.Val139Gly) | |
X | g.134490201_134490202insACTT | CA2561804246 | HPRT1 | c.398_399insACTT (p.Glu134LeufsTer6) n.556_557insACTT n.356_357insACTT c.416_417insACTT (p.Glu140LeufsTer6) | |
X | g.134490201_134490205delinsG | CA2695236038 | HPRT1 | c.398_402delinsG (p.Val133GlyfsTer3) n.556_560delinsG n.356_360delinsG c.416_420delinsG (p.Val139GlyfsTer3) | |
X | g.134490202G>A | CA518650081 | HPRT1 | c.399G>A (p.Val133=) n.557G>A n.357G>A c.417G>A (p.Val139=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.134490202G>C | CA518650082 | HPRT1 | c.399G>C (p.Val133=) n.557G>C n.357G>C c.417G>C (p.Val139=) | |
X | g.134490202G= | CA2459742211 | HPRT1 | c.399G= (p.Val133=) n.557G= n.357G= c.417G= (p.Val139=) | |
X | g.134490202G>T | CA518650083 | HPRT1 | c.399G>T (p.Val133=) n.557G>T n.357G>T c.417G>T (p.Val139=) | gnomAD v4 |
X | g.134490203del | CA2579706242 | HPRT1 | c.400del (p.Glu134LysfsTer3) n.558del n.358del c.418del (p.Glu140LysfsTer3) | gnomAD v4 |
X | g.134490203G>A | CA414713791 | HPRT1 | c.400G>A (p.Glu134Lys) n.558G>A n.358G>A c.418G>A (p.Glu140Lys) | gnomAD v4 |
X | g.134490203G>C | CA414713789 | HPRT1 | c.400G>C (p.Glu134Gln) n.558G>C n.358G>C c.418G>C (p.Glu140Gln) | |
X | g.134490203G>T | CA414713790 | HPRT1 | c.400G>T (p.Glu134Ter) n.558G>T n.358G>T c.418G>T (p.Glu140Ter) | gnomAD v4 |
X | g.134490204A>C | CA414713792 | HPRT1 | c.401A>C (p.Glu134Ala) n.559A>C n.359A>C c.419A>C (p.Glu140Ala) | |
X | g.134490204A>G | CA414713793 | HPRT1 | c.401A>G (p.Glu134Gly) n.559A>G n.359A>G c.419A>G (p.Glu140Gly) | gnomAD v4 |
X | g.134490204A>T | CA414713794 | HPRT1 | c.401A>T (p.Glu134Val) n.559A>T n.359A>T c.419A>T (p.Glu140Val) | gnomAD v4 |
X | g.134490208_134490211del | CA2695236039 | HPRT1 | c.402+3_402+6del n.560+3_560+6del n.360+3_360+6del c.420+3_420+6del |