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 |
|---|---|---|---|---|---|
| 12 | g.116022473G>A | CA386872143 | MED13L | c.608C>T (p.Ser203Leu) c.578C>T (p.Ser193Leu) c.36C>T c.518C>T (p.Ser173Leu) n.372C>T | gnomAD v4 COSMIC |
| 12 | g.116022473G>C | CA386872144 | MED13L | c.608C>G (p.Ser203Ter) c.578C>G (p.Ser193Ter) c.36C>G c.518C>G (p.Ser173Ter) n.372C>G | |
| 12 | g.116022473G= | CA2065398561 | MED13L | c.608C= (p.Ser203=) c.578C= (p.Ser193=) c.36C= c.518C= (p.Ser173=) n.372C= | |
| 12 | g.116022473G>T | CA386872145 | MED13L | c.608C>A (p.Ser203Ter) c.578C>A (p.Ser193Ter) c.36C>A c.518C>A (p.Ser173Ter) n.372C>A | |
| 12 | g.116022474A>C | CA386872146 | MED13L | c.607T>G (p.Ser203Ala) c.577T>G (p.Ser193Ala) c.35T>G c.517T>G (p.Ser173Ala) n.371T>G | |
| 12 | g.116022474A>G | CA386872147 | MED13L | c.607T>C (p.Ser203Pro) c.577T>C (p.Ser193Pro) c.35T>C c.517T>C (p.Ser173Pro) n.371T>C | |
| 12 | g.116022474A>T | CA386872148 | MED13L | c.607T>A (p.Ser203Thr) c.577T>A (p.Ser193Thr) c.35T>A c.517T>A (p.Ser173Thr) n.371T>A | |
| 12 | g.116022475dup | CA351504 | MED13L | c.607dup (p.Ser203PhefsTer?) c.577dup (p.Ser193PhefsTer?) c.35dup c.517dup (p.Ser173PhefsTer?) n.371dup | ClinVar dbSNP |
| 12 | g.116022475A>C | CA481933587 | MED13L | c.606T>G (p.Ser202=) c.576T>G (p.Ser192=) c.34T>G c.516T>G (p.Ser172=) n.370T>G | |
| 12 | g.116022475A>G | CA481933588 | MED13L | c.606T>C (p.Ser202=) c.576T>C (p.Ser192=) c.34T>C c.516T>C (p.Ser172=) n.370T>C | |
| 12 | g.116022475A>T | CA481933589 | MED13L | c.606T>A (p.Ser202=) c.576T>A (p.Ser192=) c.34T>A c.516T>A (p.Ser172=) n.370T>A | |
| 12 | g.116022476G>A | CA386872149 | MED13L | c.605C>T (p.Ser202Phe) c.575C>T (p.Ser192Phe) c.33C>T c.515C>T (p.Ser172Phe) n.369C>T | |
| 12 | g.116022476G>C | CA386872150 | MED13L | c.605C>G (p.Ser202Cys) c.575C>G (p.Ser192Cys) c.33C>G c.515C>G (p.Ser172Cys) n.369C>G | |
| 12 | g.116022476G>T | CA386872151 | MED13L | c.605C>A (p.Ser202Tyr) c.575C>A (p.Ser192Tyr) c.33C>A c.515C>A (p.Ser172Tyr) n.369C>A | |
| 12 | g.116022477A>C | CA386872154 | MED13L | c.604T>G (p.Ser202Ala) c.574T>G (p.Ser192Ala) c.32T>G c.514T>G (p.Ser172Ala) n.368T>G | |
| 12 | g.116022477A>G | CA386872153 | MED13L | c.604T>C (p.Ser202Pro) c.574T>C (p.Ser192Pro) c.32T>C c.514T>C (p.Ser172Pro) n.368T>C | |
| 12 | g.116022477A>T | CA386872152 | MED13L | c.604T>A (p.Ser202Thr) c.574T>A (p.Ser192Thr) c.32T>A c.514T>A (p.Ser172Thr) n.368T>A | |
| 12 | g.116022478C>A | CA386872155 | MED13L | c.603G>T (p.Gln201His) c.573G>T (p.Gln191His) c.31G>T c.513G>T (p.Gln171His) n.367G>T | ClinVar dbSNP |
| 12 | g.116022478C= | CA2065398579 | MED13L | c.603G= (p.Gln201=) c.573G= (p.Gln191=) c.31G= c.513G= (p.Gln171=) n.367G= | |
| 12 | g.116022478C>G | CA386872156 | MED13L | c.603G>C (p.Gln201His) c.573G>C (p.Gln191His) c.31G>C c.513G>C (p.Gln171His) n.367G>C | |
| 12 | g.116022478C>T | CA481933590 | MED13L | c.603G>A (p.Gln201=) c.573G>A (p.Gln191=) c.31G>A c.513G>A (p.Gln171=) n.367G>A | |
| 12 | g.116022479T>A | CA386872157 | MED13L | c.602A>T (p.Gln201Leu) c.572A>T (p.Gln191Leu) c.30A>T c.512A>T (p.Gln171Leu) n.366A>T | gnomAD v4 |
| 12 | g.116022479T>C | CA386872158 | MED13L | c.602A>G (p.Gln201Arg) c.572A>G (p.Gln191Arg) c.30A>G c.512A>G (p.Gln171Arg) n.366A>G | gnomAD v4 |
| 12 | g.116022479T>G | CA386872159 | MED13L | c.602A>C (p.Gln201Pro) c.572A>C (p.Gln191Pro) c.30A>C c.512A>C (p.Gln171Pro) n.366A>C | gnomAD v4 |
| 12 | g.116022480G>A | CA386872160 | MED13L | c.601C>T (p.Gln201Ter) c.571C>T (p.Gln191Ter) c.29C>T c.511C>T (p.Gln171Ter) n.365C>T | ClinVar dbSNP |
| 12 | g.116022480G>C | CA386872161 | MED13L | c.601C>G (p.Gln201Glu) c.571C>G (p.Gln191Glu) c.29C>G c.511C>G (p.Gln171Glu) n.365C>G | ClinVar gnomAD v4 |
| 12 | g.116022480G= | CA2065398586 | MED13L | c.601C= (p.Gln201=) c.571C= (p.Gln191=) c.29C= c.511C= (p.Gln171=) n.365C= | |
| 12 | g.116022480G>T | CA244129678 | MED13L | c.601C>A (p.Gln201Lys) c.571C>A (p.Gln191Lys) c.29C>A c.511C>A (p.Gln171Lys) n.365C>A | dbSNP |
| 12 | g.116022481A= | CA2065398594 | MED13L | c.600T= (p.Ala200=) c.570T= (p.Ala190=) c.28T= c.510T= (p.Ala170=) n.364T= | |
| 12 | g.116022481A>C | CA481933591 | MED13L | c.600T>G (p.Ala200=) c.570T>G (p.Ala190=) c.28T>G c.510T>G (p.Ala170=) n.364T>G | |
| 12 | g.116022481A>G | CA6811634 | MED13L | c.600T>C (p.Ala200=) c.570T>C (p.Ala190=) c.28T>C c.510T>C (p.Ala170=) n.364T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.116022481A>T | CA481933592 | MED13L | c.600T>A (p.Ala200=) c.570T>A (p.Ala190=) c.28T>A c.510T>A (p.Ala170=) n.364T>A | |
| 12 | g.116022482G>A | CA386872162 | MED13L | c.599C>T (p.Ala200Val) c.569C>T (p.Ala190Val) c.27C>T c.509C>T (p.Ala170Val) n.363C>T | |
| 12 | g.116022482G>C | CA386872163 | MED13L | c.599C>G (p.Ala200Gly) c.569C>G (p.Ala190Gly) c.27C>G c.509C>G (p.Ala170Gly) n.363C>G | |
| 12 | g.116022482G>T | CA386872164 | MED13L | c.599C>A (p.Ala200Asp) c.569C>A (p.Ala190Asp) c.27C>A c.509C>A (p.Ala170Asp) n.363C>A | |
| 12 | g.116022483C>A | CA386872167 | MED13L | c.598G>T (p.Ala200Ser) c.568G>T (p.Ala190Ser) c.26G>T c.508G>T (p.Ala170Ser) n.362G>T | |
| 12 | g.116022483C= | CA2065398599 | MED13L | c.598G= (p.Ala200=) c.568G= (p.Ala190=) c.26G= c.508G= (p.Ala170=) n.362G= | |
| 12 | g.116022483C>G | CA386872165 | MED13L | c.598G>C (p.Ala200Pro) c.568G>C (p.Ala190Pro) c.26G>C c.508G>C (p.Ala170Pro) n.362G>C | |
| 12 | g.116022483C>T | CA386872166 | MED13L | c.598G>A (p.Ala200Thr) c.568G>A (p.Ala190Thr) c.26G>A c.508G>A (p.Ala170Thr) n.362G>A | dbSNP |
| 12 | g.116022484C>A | CA386872168 | MED13L | c.597G>T (p.Met199Ile) c.567G>T (p.Met189Ile) c.25G>T c.507G>T (p.Met169Ile) n.361G>T | |
| 12 | g.116022484C>G | CA386872169 | MED13L | c.597G>C (p.Met199Ile) c.567G>C (p.Met189Ile) c.25G>C c.507G>C (p.Met169Ile) n.361G>C | gnomAD v4 |
| 12 | g.116022484C>T | CA386872170 | MED13L | c.597G>A (p.Met199Ile) c.567G>A (p.Met189Ile) c.25G>A c.507G>A (p.Met169Ile) n.361G>A | |
| 12 | g.116022485A= | CA2065398602 | MED13L | c.596T= (p.Met199=) c.566T= (p.Met189=) c.24T= c.506T= (p.Met169=) n.360T= | |
| 12 | g.116022485A>C | CA386872171 | MED13L | c.596T>G (p.Met199Arg) c.566T>G (p.Met189Arg) c.24T>G c.506T>G (p.Met169Arg) n.360T>G | |
| 12 | g.116022485A>G | CA386872172 | MED13L | c.596T>C (p.Met199Thr) c.566T>C (p.Met189Thr) c.24T>C c.506T>C (p.Met169Thr) n.360T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.116022485A>T | CA386872173 | MED13L | c.596T>A (p.Met199Lys) c.566T>A (p.Met189Lys) c.24T>A c.506T>A (p.Met169Lys) n.360T>A | |
| 12 | g.116022486T>A | CA386872174 | MED13L | c.595A>T (p.Met199Leu) c.565A>T (p.Met189Leu) c.23A>T c.505A>T (p.Met169Leu) n.359A>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.116022486T>C | CA386872175 | MED13L | c.595A>G (p.Met199Val) c.565A>G (p.Met189Val) c.23A>G c.505A>G (p.Met169Val) n.359A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.116022486T>G | CA386872176 | MED13L | c.595A>C (p.Met199Leu) c.565A>C (p.Met189Leu) c.23A>C c.505A>C (p.Met169Leu) n.359A>C | |
| 12 | g.116022486T= | CA2065398610 | MED13L | c.595A= (p.Met199=) c.565A= (p.Met189=) c.23A= c.505A= (p.Met169=) n.359A= |