UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 14 | g.50269178T>G | CA389650186 | L2HGDH | c.891A>C (p.Lys297Asn) c.780A>C (p.Lys260Asn) c.756A>C (p.Lys252Asn) c.345A>C (p.Lys115Asn) | |
| 14 | g.50269179T>A | CA389650188 | L2HGDH | c.890A>T (p.Lys297Ile) c.779A>T (p.Lys260Ile) c.755A>T (p.Lys252Ile) c.344A>T (p.Lys115Ile) | |
| 14 | g.50269179T>C | CA389650190 | L2HGDH | c.890A>G (p.Lys297Arg) c.779A>G (p.Lys260Arg) c.755A>G (p.Lys252Arg) c.344A>G (p.Lys115Arg) | |
| 14 | g.50269179T>G | CA260739948 | L2HGDH | c.890A>C (p.Lys297Thr) c.779A>C (p.Lys260Thr) c.755A>C (p.Lys252Thr) c.344A>C (p.Lys115Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50269179T= | CA2136124065 | L2HGDH | c.890A= (p.Lys297=) c.779A= (p.Lys260=) c.755A= (p.Lys252=) c.344A= (p.Lys115=) | |
| 14 | g.50269180T>A | CA389650194 | L2HGDH | c.889A>T (p.Lys297Ter) c.778A>T (p.Lys260Ter) c.754A>T (p.Lys252Ter) c.343A>T (p.Lys115Ter) | |
| 14 | g.50269180T>C | CA389650196 | L2HGDH | c.889A>G (p.Lys297Glu) c.778A>G (p.Lys260Glu) c.754A>G (p.Lys252Glu) c.343A>G (p.Lys115Glu) | |
| 14 | g.50269180T>G | CA389650198 | L2HGDH | c.889A>C (p.Lys297Gln) c.778A>C (p.Lys260Gln) c.754A>C (p.Lys252Gln) c.343A>C (p.Lys115Gln) | |
| 14 | g.50269181T>A | CA486175792 | L2HGDH | c.888A>T (p.Val296=) c.777A>T (p.Val259=) c.753A>T (p.Val251=) c.342A>T (p.Val114=) | |
| 14 | g.50269181T>C | CA486175793 | L2HGDH | c.888A>G (p.Val296=) c.777A>G (p.Val259=) c.753A>G (p.Val251=) c.342A>G (p.Val114=) | |
| 14 | g.50269181T>G | CA486175794 | L2HGDH | c.888A>C (p.Val296=) c.777A>C (p.Val259=) c.753A>C (p.Val251=) c.342A>C (p.Val114=) | |
| 14 | g.50269182A= | CA2136124066 | L2HGDH | c.887T= (p.Val296=) c.776T= (p.Val259=) c.752T= (p.Val251=) c.341T= (p.Val114=) | |
| 14 | g.50269182A>C | CA389650201 | L2HGDH | c.887T>G (p.Val296Gly) c.776T>G (p.Val259Gly) c.752T>G (p.Val251Gly) c.341T>G (p.Val114Gly) | |
| 14 | g.50269182A>G | CA7177868 | L2HGDH | c.887T>C (p.Val296Ala) c.776T>C (p.Val259Ala) c.752T>C (p.Val251Ala) c.341T>C (p.Val114Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50269182A>T | CA389650200 | L2HGDH | c.887T>A (p.Val296Glu) c.776T>A (p.Val259Glu) c.752T>A (p.Val251Glu) c.341T>A (p.Val114Glu) | |
| 14 | g.50269183C>A | CA389650208 | L2HGDH | c.886G>T (p.Val296Leu) c.775G>T (p.Val259Leu) c.751G>T (p.Val251Leu) c.340G>T (p.Val114Leu) | |
| 14 | g.50269183C>G | CA389650204 | L2HGDH | c.886G>C (p.Val296Leu) c.775G>C (p.Val259Leu) c.751G>C (p.Val251Leu) c.340G>C (p.Val114Leu) | |
| 14 | g.50269183C>T | CA389650206 | L2HGDH | c.886G>A (p.Val296Ile) c.775G>A (p.Val259Ile) c.751G>A (p.Val251Ile) c.340G>A (p.Val114Ile) | gnomAD v4 |
| 14 | g.50269184A>C | CA486175795 | L2HGDH | c.885T>G (p.Leu295=) c.774T>G (p.Leu258=) c.750T>G (p.Leu250=) c.339T>G (p.Leu113=) | |
| 14 | g.50269184A>G | CA486175796 | L2HGDH | c.885T>C (p.Leu295=) c.774T>C (p.Leu258=) c.750T>C (p.Leu250=) c.339T>C (p.Leu113=) | |
| 14 | g.50269184A>T | CA486175797 | L2HGDH | c.885T>A (p.Leu295=) c.774T>A (p.Leu258=) c.750T>A (p.Leu250=) c.339T>A (p.Leu113=) | |
| 14 | g.50269185A>C | CA389650210 | L2HGDH | c.884T>G (p.Leu295Arg) c.773T>G (p.Leu258Arg) c.749T>G (p.Leu250Arg) c.338T>G (p.Leu113Arg) | |
| 14 | g.50269185A>G | CA389650212 | L2HGDH | c.884T>C (p.Leu295Pro) c.773T>C (p.Leu258Pro) c.749T>C (p.Leu250Pro) c.338T>C (p.Leu113Pro) | |
| 14 | g.50269185A>T | CA389650213 | L2HGDH | c.884T>A (p.Leu295His) c.773T>A (p.Leu258His) c.749T>A (p.Leu250His) c.338T>A (p.Leu113His) | |
| 14 | g.50269186G>A | CA389650215 | L2HGDH | c.883C>T (p.Leu295Phe) c.772C>T (p.Leu258Phe) c.748C>T (p.Leu250Phe) c.337C>T (p.Leu113Phe) | |
| 14 | g.50269186G>C | CA389650217 | L2HGDH | c.883C>G (p.Leu295Val) c.772C>G (p.Leu258Val) c.748C>G (p.Leu250Val) c.337C>G (p.Leu113Val) | |
| 14 | g.50269186G>T | CA389650219 | L2HGDH | c.883C>A (p.Leu295Ile) c.772C>A (p.Leu258Ile) c.748C>A (p.Leu250Ile) c.337C>A (p.Leu113Ile) | |
| 14 | g.50269187A>C | CA389650221 | L2HGDH | c.882T>G (p.Tyr294Ter) c.771T>G (p.Tyr257Ter) c.747T>G (p.Tyr249Ter) c.336T>G (p.Tyr112Ter) | |
| 14 | g.50269187A>G | CA486175798 | L2HGDH | c.882T>C (p.Tyr294=) c.771T>C (p.Tyr257=) c.747T>C (p.Tyr249=) c.336T>C (p.Tyr112=) | gnomAD v4 |
| 14 | g.50269187A>T | CA389650223 | L2HGDH | c.882T>A (p.Tyr294Ter) c.771T>A (p.Tyr257Ter) c.747T>A (p.Tyr249Ter) c.336T>A (p.Tyr112Ter) | |
| 14 | g.50269188T>A | CA389650224 | L2HGDH | c.881A>T (p.Tyr294Phe) c.770A>T (p.Tyr257Phe) c.746A>T (p.Tyr249Phe) c.335A>T (p.Tyr112Phe) |