WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.27173251T>A | CA373125206 | TEK | c.790T>A (p.Cys264Ser) c.349T>A (p.Cys117Ser) c.478T>A (p.Cys160Ser) | |
| 9 | g.27173251T>C | CA373125210 | TEK | c.790T>C (p.Cys264Arg) c.349T>C (p.Cys117Arg) c.478T>C (p.Cys160Arg) | |
| 9 | g.27173251T>G | CA373125211 | TEK | c.790T>G (p.Cys264Gly) c.349T>G (p.Cys117Gly) c.478T>G (p.Cys160Gly) | |
| 9 | g.27173252G>A | CA373125217 | TEK | c.791G>A (p.Cys264Tyr) c.350G>A (p.Cys117Tyr) c.479G>A (p.Cys160Tyr) | |
| 9 | g.27173252G>C | CA373125222 | TEK | c.791G>C (p.Cys264Ser) c.350G>C (p.Cys117Ser) c.479G>C (p.Cys160Ser) | |
| 9 | g.27173252G>T | CA373125214 | TEK | c.791G>T (p.Cys264Phe) c.350G>T (p.Cys117Phe) c.479G>T (p.Cys160Phe) | |
| 9 | g.27173253T>A | CA373125229 | TEK | c.792T>A (p.Cys264Ter) c.351T>A (p.Cys117Ter) c.480T>A (p.Cys160Ter) | gnomAD v4 |
| 9 | g.27173253T>C | CA464168646 | TEK | c.792T>C (p.Cys264=) c.351T>C (p.Cys117=) c.480T>C (p.Cys160=) | |
| 9 | g.27173253T>G | CA373125226 | TEK | c.792T>G (p.Cys264Trp) c.351T>G (p.Cys117Trp) c.480T>G (p.Cys160Trp) | |
| 9 | g.27173254A>C | CA373125241 | TEK | c.793A>C (p.Lys265Gln) c.352A>C (p.Lys118Gln) c.481A>C (p.Lys161Gln) | |
| 9 | g.27173254A>G | CA373125232 | TEK | c.793A>G (p.Lys265Glu) c.352A>G (p.Lys118Glu) c.481A>G (p.Lys161Glu) | gnomAD v4 |
| 9 | g.27173254A>T | CA373125239 | TEK | c.793A>T (p.Lys265Ter) c.352A>T (p.Lys118Ter) c.481A>T (p.Lys161Ter) | |
| 9 | g.27173255A>C | CA373125244 | TEK | c.794A>C (p.Lys265Thr) c.353A>C (p.Lys118Thr) c.482A>C (p.Lys161Thr) | |
| 9 | g.27173255A>G | CA373125246 | TEK | c.794A>G (p.Lys265Arg) c.353A>G (p.Lys118Arg) c.482A>G (p.Lys161Arg) | |
| 9 | g.27173255A>T | CA373125248 | TEK | c.794A>T (p.Lys265Ile) c.353A>T (p.Lys118Ile) c.482A>T (p.Lys161Ile) | |
| 9 | g.27173256A= | CA1842021633 | TEK | c.795A= (p.Lys265=) c.354A= (p.Lys118=) c.483A= (p.Lys161=) | |
| 9 | g.27173256A>C | CA373125250 | TEK | c.795A>C (p.Lys265Asn) c.354A>C (p.Lys118Asn) c.483A>C (p.Lys161Asn) | |
| 9 | g.27173256A>G | CA5016023 | TEK | c.795A>G (p.Lys265=) c.354A>G (p.Lys118=) c.483A>G (p.Lys161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.27173256A>T | CA373125257 | TEK | c.795A>T (p.Lys265Asn) c.354A>T (p.Lys118Asn) c.483A>T (p.Lys161Asn) | |
| 9 | g.27173257G>A | CA373125261 | TEK | c.796G>A (p.Glu266Lys) c.355G>A (p.Glu119Lys) c.484G>A (p.Glu162Lys) | |
| 9 | g.27173257G>C | CA373125264 | TEK | c.796G>C (p.Glu266Gln) c.355G>C (p.Glu119Gln) c.484G>C (p.Glu162Gln) | dbSNP |
| 9 | g.27173257G= | CA1842021639 | TEK | c.796G= (p.Glu266=) c.355G= (p.Glu119=) c.484G= (p.Glu162=) | |
| 9 | g.27173257G>T | CA373125267 | TEK | c.796G>T (p.Glu266Ter) c.355G>T (p.Glu119Ter) c.484G>T (p.Glu162Ter) | |
| 9 | g.27173258A>C | CA373125276 | TEK | c.797A>C (p.Glu266Ala) c.356A>C (p.Glu119Ala) c.485A>C (p.Glu162Ala) | |
| 9 | g.27173258A>G | CA373125273 | TEK | c.797A>G (p.Glu266Gly) c.356A>G (p.Glu119Gly) c.485A>G (p.Glu162Gly) | |
| 9 | g.27173258A>T | CA373125269 | TEK | c.797A>T (p.Glu266Val) c.356A>T (p.Glu119Val) c.485A>T (p.Glu162Val) | |
| 9 | g.27173259A>C | CA373125279 | TEK | c.798A>C (p.Glu266Asp) c.357A>C (p.Glu119Asp) c.486A>C (p.Glu162Asp) | |
| 9 | g.27173259A>G | CA464168650 | TEK | c.798A>G (p.Glu266=) c.357A>G (p.Glu119=) c.486A>G (p.Glu162=) | |
| 9 | g.27173259A>T | CA373125282 | TEK | c.798A>T (p.Glu266Asp) c.357A>T (p.Glu119Asp) c.486A>T (p.Glu162Asp) | |
| 9 | g.27173260A>C | CA464168651 | TEK | c.799A>C (p.Arg267=) c.358A>C (p.Arg120=) c.487A>C (p.Arg163=) | |
| 9 | g.27173260A>G | CA373125286 | TEK | c.799A>G (p.Arg267Gly) c.358A>G (p.Arg120Gly) c.487A>G (p.Arg163Gly) | |
| 9 | g.27173260A>T | CA373125287 | TEK | c.799A>T (p.Arg267Trp) c.358A>T (p.Arg120Trp) c.487A>T (p.Arg163Trp) | |
| 9 | g.27173261G>A | CA373125292 | TEK | c.800G>A (p.Arg267Lys) c.359G>A (p.Arg120Lys) c.488G>A (p.Arg163Lys) | |
| 9 | g.27173261G>C | CA373125295 | TEK | c.800G>C (p.Arg267Thr) c.359G>C (p.Arg120Thr) c.488G>C (p.Arg163Thr) | |
| 9 | g.27173261G= | CA1842021643 | TEK | c.800G= (p.Arg267=) c.359G= (p.Arg120=) c.488G= (p.Arg163=) | |
| 9 | g.27173261G>T | CA191326048 | TEK | c.800G>T (p.Arg267Met) c.359G>T (p.Arg120Met) c.488G>T (p.Arg163Met) | dbSNP |
| 9 | g.27173262G>A | CA464168654 | TEK | c.801G>A (p.Arg267=) c.360G>A (p.Arg120=) c.489G>A (p.Arg163=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.27173262G>C | CA373125304 | TEK | c.801G>C (p.Arg267Ser) c.360G>C (p.Arg120Ser) c.489G>C (p.Arg163Ser) | dbSNP |
| 9 | g.27173262G= | CA1842021647 | TEK | c.801G= (p.Arg267=) c.360G= (p.Arg120=) c.489G= (p.Arg163=) | |
| 9 | g.27173262G>T | CA373125305 | TEK | c.801G>T (p.Arg267Ser) c.360G>T (p.Arg120Ser) c.489G>T (p.Arg163Ser) | |
| 9 | g.27173263T>A | CA373125306 | TEK | c.802T>A (p.Cys268Ser) c.361T>A (p.Cys121Ser) c.490T>A (p.Cys164Ser) | |
| 9 | g.27173263T>C | CA373125308 | TEK | c.802T>C (p.Cys268Arg) c.361T>C (p.Cys121Arg) c.490T>C (p.Cys164Arg) | |
| 9 | g.27173263T>G | CA373125310 | TEK | c.802T>G (p.Cys268Gly) c.361T>G (p.Cys121Gly) c.490T>G (p.Cys164Gly) | |
| 9 | g.27173264G>A | CA373125317 | TEK | c.803G>A (p.Cys268Tyr) c.362G>A (p.Cys121Tyr) c.491G>A (p.Cys164Tyr) | |
| 9 | g.27173264G>C | CA373125319 | TEK | c.803G>C (p.Cys268Ser) c.362G>C (p.Cys121Ser) c.491G>C (p.Cys164Ser) | |
| 9 | g.27173264G>T | CA373125314 | TEK | c.803G>T (p.Cys268Phe) c.362G>T (p.Cys121Phe) c.491G>T (p.Cys164Phe) | |
| 9 | g.27173265C>A | CA373125323 | TEK | c.804C>A (p.Cys268Ter) c.363C>A (p.Cys121Ter) c.492C>A (p.Cys164Ter) | |
| 9 | g.27173265C>G | CA373125326 | TEK | c.804C>G (p.Cys268Trp) c.363C>G (p.Cys121Trp) c.492C>G (p.Cys164Trp) | |
| 9 | g.27173265C>T | CA464168658 | TEK | c.804C>T (p.Cys268=) c.363C>T (p.Cys121=) c.492C>T (p.Cys164=) | |
| 9 | g.27173266A>C | CA373125331 | TEK | c.805A>C (p.Ser269Arg) c.364A>C (p.Ser122Arg) c.493A>C (p.Ser165Arg) |