| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50269164G>A | CA115107 | L2HGDH | c.905C>T (p.Pro302Leu) c.794C>T (p.Pro265Leu) c.770C>T (p.Pro257Leu) c.359C>T (p.Pro120Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.50269164G>C | CA389650081 | L2HGDH | c.905C>G (p.Pro302Arg) c.794C>G (p.Pro265Arg) c.770C>G (p.Pro257Arg) c.359C>G (p.Pro120Arg) | |
| 14 | g.50269164G= | CA2136124059 | L2HGDH | c.905C= (p.Pro302=) c.794C= (p.Pro265=) c.770C= (p.Pro257=) c.359C= (p.Pro120=) | |
| 14 | g.50269164G>T | CA389650082 | L2HGDH | c.905C>A (p.Pro302Gln) c.794C>A (p.Pro265Gln) c.770C>A (p.Pro257Gln) c.359C>A (p.Pro120Gln) | |
| 14 | g.50269165G>A | CA389650087 | L2HGDH | c.904C>T (p.Pro302Ser) c.793C>T (p.Pro265Ser) c.769C>T (p.Pro257Ser) c.358C>T (p.Pro120Ser) | gnomAD v4 |
| 14 | g.50269165G>C | CA389650091 | L2HGDH | c.904C>G (p.Pro302Ala) c.793C>G (p.Pro265Ala) c.769C>G (p.Pro257Ala) c.358C>G (p.Pro120Ala) | |
| 14 | g.50269165G>T | CA389650093 | L2HGDH | c.904C>A (p.Pro302Thr) c.793C>A (p.Pro265Thr) c.769C>A (p.Pro257Thr) c.358C>A (p.Pro120Thr) | |
| 14 | g.50269166A= | CA2136124060 | L2HGDH | c.903T= (p.Tyr301=) c.792T= (p.Tyr264=) c.768T= (p.Tyr256=) c.357T= (p.Tyr119=) | |
| 14 | g.50269166A>C | CA389650096 | L2HGDH | c.903T>G (p.Tyr301Ter) c.792T>G (p.Tyr264Ter) c.768T>G (p.Tyr256Ter) c.357T>G (p.Tyr119Ter) | ClinVar dbSNP |
| 14 | g.50269166A>G | CA486175784 | L2HGDH | c.903T>C (p.Tyr301=) c.792T>C (p.Tyr264=) c.768T>C (p.Tyr256=) c.357T>C (p.Tyr119=) | gnomAD v4 |
| 14 | g.50269166A>T | CA389650099 | L2HGDH | c.903T>A (p.Tyr301Ter) c.792T>A (p.Tyr264Ter) c.768T>A (p.Tyr256Ter) c.357T>A (p.Tyr119Ter) | |
| 14 | g.50269167T>A | CA7177867 | L2HGDH | c.902A>T (p.Tyr301Phe) c.791A>T (p.Tyr264Phe) c.767A>T (p.Tyr256Phe) c.356A>T (p.Tyr119Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50269167T>C | CA389650104 | L2HGDH | c.902A>G (p.Tyr301Cys) c.791A>G (p.Tyr264Cys) c.767A>G (p.Tyr256Cys) c.356A>G (p.Tyr119Cys) | dbSNP |
| 14 | g.50269167T>G | CA389650105 | L2HGDH | c.902A>C (p.Tyr301Ser) c.791A>C (p.Tyr264Ser) c.767A>C (p.Tyr256Ser) c.356A>C (p.Tyr119Ser) | |
| 14 | g.50269167T= | CA2136124061 | L2HGDH | c.902A= (p.Tyr301=) c.791A= (p.Tyr264=) c.767A= (p.Tyr256=) c.356A= (p.Tyr119=) | |
| 14 | g.50269168A>C | CA389650115 | L2HGDH | c.901T>G (p.Tyr301Asp) c.790T>G (p.Tyr264Asp) c.766T>G (p.Tyr256Asp) c.355T>G (p.Tyr119Asp) | |
| 14 | g.50269168A>G | CA389650119 | L2HGDH | c.901T>C (p.Tyr301His) c.790T>C (p.Tyr264His) c.766T>C (p.Tyr256His) c.355T>C (p.Tyr119His) | |
| 14 | g.50269168A>T | CA389650109 | L2HGDH | c.901T>A (p.Tyr301Asn) c.790T>A (p.Tyr264Asn) c.766T>A (p.Tyr256Asn) c.355T>A (p.Tyr119Asn) | |
| 14 | g.50269169A>C | CA389650124 | L2HGDH | c.900T>G (p.Ile300Met) c.789T>G (p.Ile263Met) c.765T>G (p.Ile255Met) c.354T>G (p.Ile118Met) | |
| 14 | g.50269169A>G | CA486175785 | L2HGDH | c.900T>C (p.Ile300=) c.789T>C (p.Ile263=) c.765T>C (p.Ile255=) c.354T>C (p.Ile118=) | |
| 14 | g.50269169A>T | CA486175786 | L2HGDH | c.900T>A (p.Ile300=) c.789T>A (p.Ile263=) c.765T>A (p.Ile255=) c.354T>A (p.Ile118=) | |
| 14 | g.50269170A>C | CA389650128 | L2HGDH | c.899T>G (p.Ile300Ser) c.788T>G (p.Ile263Ser) c.764T>G (p.Ile255Ser) c.353T>G (p.Ile118Ser) | |
| 14 | g.50269170A>G | CA389650131 | L2HGDH | c.899T>C (p.Ile300Thr) c.788T>C (p.Ile263Thr) c.764T>C (p.Ile255Thr) c.353T>C (p.Ile118Thr) | gnomAD v4 |
| 14 | g.50269170A>T | CA389650134 | L2HGDH | c.899T>A (p.Ile300Asn) c.788T>A (p.Ile263Asn) c.764T>A (p.Ile255Asn) c.353T>A (p.Ile118Asn) | |
| 14 | g.50269171T>A | CA389650138 | L2HGDH | c.898A>T (p.Ile300Phe) c.787A>T (p.Ile263Phe) c.763A>T (p.Ile255Phe) c.352A>T (p.Ile118Phe) | |
| 14 | g.50269171T>C | CA389650141 | L2HGDH | c.898A>G (p.Ile300Val) c.787A>G (p.Ile263Val) c.763A>G (p.Ile255Val) c.352A>G (p.Ile118Val) | gnomAD v4 |
| 14 | g.50269171T>G | CA389650143 | L2HGDH | c.898A>C (p.Ile300Leu) c.787A>C (p.Ile263Leu) c.763A>C (p.Ile255Leu) c.352A>C (p.Ile118Leu) | |
| 14 | g.50269172A= | CA2136124062 | L2HGDH | c.897T= (p.Asn299=) c.786T= (p.Asn262=) c.762T= (p.Asn254=) c.351T= (p.Asn117=) | |
| 14 | g.50269172A>C | CA389650147 | L2HGDH | c.897T>G (p.Asn299Lys) c.786T>G (p.Asn262Lys) c.762T>G (p.Asn254Lys) c.351T>G (p.Asn117Lys) | |
| 14 | g.50269172A>G | CA486175787 | L2HGDH | c.897T>C (p.Asn299=) c.786T>C (p.Asn262=) c.762T>C (p.Asn254=) c.351T>C (p.Asn117=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50269172A>T | CA389650149 | L2HGDH | c.897T>A (p.Asn299Lys) c.786T>A (p.Asn262Lys) c.762T>A (p.Asn254Lys) c.351T>A (p.Asn117Lys) | |
| 14 | g.50269173T>A | CA389650153 | L2HGDH | c.896A>T (p.Asn299Ile) c.785A>T (p.Asn262Ile) c.761A>T (p.Asn254Ile) c.350A>T (p.Asn117Ile) | |
| 14 | g.50269173T>C | CA389650156 | L2HGDH | c.896A>G (p.Asn299Ser) c.785A>G (p.Asn262Ser) c.761A>G (p.Asn254Ser) c.350A>G (p.Asn117Ser) | |
| 14 | g.50269173T>G | CA389650158 | L2HGDH | c.896A>C (p.Asn299Thr) c.785A>C (p.Asn262Thr) c.761A>C (p.Asn254Thr) c.350A>C (p.Asn117Thr) | |
| 14 | g.50269174T>A | CA389650162 | L2HGDH | c.895A>T (p.Asn299Tyr) c.784A>T (p.Asn262Tyr) c.760A>T (p.Asn254Tyr) c.349A>T (p.Asn117Tyr) | |
| 14 | g.50269174T>C | CA389650166 | L2HGDH | c.895A>G (p.Asn299Asp) c.784A>G (p.Asn262Asp) c.760A>G (p.Asn254Asp) c.349A>G (p.Asn117Asp) | ClinVar |
| 14 | g.50269174T>G | CA389650160 | L2HGDH | c.895A>C (p.Asn299His) c.784A>C (p.Asn262His) c.760A>C (p.Asn254His) c.349A>C (p.Asn117His) | gnomAD v4 |
| 14 | g.50269175T>A | CA486175790 | L2HGDH | c.894A>T (p.Gly298=) c.783A>T (p.Gly261=) c.759A>T (p.Gly253=) c.348A>T (p.Gly116=) | |
| 14 | g.50269175T>C | CA486175789 | L2HGDH | c.894A>G (p.Gly298=) c.783A>G (p.Gly261=) c.759A>G (p.Gly253=) c.348A>G (p.Gly116=) | |
| 14 | g.50269175T>G | CA486175788 | L2HGDH | c.894A>C (p.Gly298=) c.783A>C (p.Gly261=) c.759A>C (p.Gly253=) c.348A>C (p.Gly116=) | |
| 14 | g.50269176C>A | CA389650169 | L2HGDH | c.893G>T (p.Gly298Val) c.782G>T (p.Gly261Val) c.758G>T (p.Gly253Val) c.347G>T (p.Gly116Val) | |
| 14 | g.50269176C= | CA2136124063 | L2HGDH | c.893G= (p.Gly298=) c.782G= (p.Gly261=) c.758G= (p.Gly253=) c.347G= (p.Gly116=) | |
| 14 | g.50269176C>G | CA389650171 | L2HGDH | c.893G>C (p.Gly298Ala) c.782G>C (p.Gly261Ala) c.758G>C (p.Gly253Ala) c.347G>C (p.Gly116Ala) | |
| 14 | g.50269176C>T | CA389650173 | L2HGDH | c.893G>A (p.Gly298Glu) c.782G>A (p.Gly261Glu) c.758G>A (p.Gly253Glu) c.347G>A (p.Gly116Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 14 | g.50269177C>A | CA389650177 | L2HGDH | c.892G>T (p.Gly298Ter) c.781G>T (p.Gly261Ter) c.757G>T (p.Gly253Ter) c.346G>T (p.Gly116Ter) | |
| 14 | g.50269177C= | CA2136124064 | L2HGDH | c.892G= (p.Gly298=) c.781G= (p.Gly261=) c.757G= (p.Gly253=) c.346G= (p.Gly116=) | |
| 14 | g.50269177C>G | CA389650180 | L2HGDH | c.892G>C (p.Gly298Arg) c.781G>C (p.Gly261Arg) c.757G>C (p.Gly253Arg) c.346G>C (p.Gly116Arg) | |
| 14 | g.50269177C>T | CA260739947 | L2HGDH | c.892G>A (p.Gly298Arg) c.781G>A (p.Gly261Arg) c.757G>A (p.Gly253Arg) c.346G>A (p.Gly116Arg) | dbSNP gnomAD v4 |
| 14 | g.50269178T>A | CA389650184 | L2HGDH | c.891A>T (p.Lys297Asn) c.780A>T (p.Lys260Asn) c.756A>T (p.Lys252Asn) c.345A>T (p.Lys115Asn) | |
| 14 | g.50269178T>C | CA486175791 | L2HGDH | c.891A>G (p.Lys297=) c.780A>G (p.Lys260=) c.756A>G (p.Lys252=) c.345A>G (p.Lys115=) |