| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.116022464G>A | CA386872114 | MED13L | c.617C>T (p.Pro206Leu) c.587C>T (p.Pro196Leu) c.45C>T c.527C>T (p.Pro176Leu) n.381C>T | |
| 12 | g.116022464G>C | CA386872112 | MED13L | c.617C>G (p.Pro206Arg) c.587C>G (p.Pro196Arg) c.45C>G c.527C>G (p.Pro176Arg) n.381C>G | |
| 12 | g.116022464G>T | CA386872121 | MED13L | c.617C>A (p.Pro206Gln) c.587C>A (p.Pro196Gln) c.45C>A c.527C>A (p.Pro176Gln) n.381C>A | |
| 12 | g.116022465G>A | CA386872124 | MED13L | c.616C>T (p.Pro206Ser) c.586C>T (p.Pro196Ser) c.44C>T c.526C>T (p.Pro176Ser) n.380C>T | gnomAD v4 |
| 12 | g.116022465G>C | CA386872126 | MED13L | c.616C>G (p.Pro206Ala) c.586C>G (p.Pro196Ala) c.44C>G c.526C>G (p.Pro176Ala) n.380C>G | |
| 12 | g.116022465G>T | CA386872131 | MED13L | c.616C>A (p.Pro206Thr) c.586C>A (p.Pro196Thr) c.44C>A c.526C>A (p.Pro176Thr) n.380C>A | |
| 12 | g.116022466T>A | CA481933579 | MED13L | c.615A>T (p.Ala205=) c.585A>T (p.Ala195=) c.43A>T c.525A>T (p.Ala175=) n.379A>T | |
| 12 | g.116022466T>C | CA481933580 | MED13L | c.615A>G (p.Ala205=) c.585A>G (p.Ala195=) c.43A>G c.525A>G (p.Ala175=) n.379A>G | gnomAD v4 |
| 12 | g.116022466T>G | CA481933578 | MED13L | c.615A>C (p.Ala205=) c.585A>C (p.Ala195=) c.43A>C c.525A>C (p.Ala175=) n.379A>C | |
| 12 | g.116022467G>A | CA386872132 | MED13L | c.614C>T (p.Ala205Val) c.584C>T (p.Ala195Val) c.42C>T c.524C>T (p.Ala175Val) n.378C>T | gnomAD v4 |
| 12 | g.116022467G>C | CA386872133 | MED13L | c.614C>G (p.Ala205Gly) c.584C>G (p.Ala195Gly) c.42C>G c.524C>G (p.Ala175Gly) n.378C>G | |
| 12 | g.116022467G>T | CA386872134 | MED13L | c.614C>A (p.Ala205Glu) c.584C>A (p.Ala195Glu) c.42C>A c.524C>A (p.Ala175Glu) n.378C>A | |
| 12 | g.116022468C>A | CA386872135 | MED13L | c.613G>T (p.Ala205Ser) c.583G>T (p.Ala195Ser) c.41G>T c.523G>T (p.Ala175Ser) n.377G>T | |
| 12 | g.116022468C>G | CA386872136 | MED13L | c.613G>C (p.Ala205Pro) c.583G>C (p.Ala195Pro) c.41G>C c.523G>C (p.Ala175Pro) n.377G>C | |
| 12 | g.116022468C>T | CA386872137 | MED13L | c.613G>A (p.Ala205Thr) c.583G>A (p.Ala195Thr) c.41G>A c.523G>A (p.Ala175Thr) n.377G>A | gnomAD v4 |
| 12 | g.116022469A>C | CA481933583 | MED13L | c.612T>G (p.Pro204=) c.582T>G (p.Pro194=) c.40T>G c.522T>G (p.Pro174=) n.376T>G | |
| 12 | g.116022469A>G | CA481933582 | MED13L | c.612T>C (p.Pro204=) c.582T>C (p.Pro194=) c.40T>C c.522T>C (p.Pro174=) n.376T>C | |
| 12 | g.116022469A>T | CA481933581 | MED13L | c.612T>A (p.Pro204=) c.582T>A (p.Pro194=) c.40T>A c.522T>A (p.Pro174=) n.376T>A | gnomAD v4 |
| 12 | g.116022470G>A | CA6811633 | MED13L | c.611C>T (p.Pro204Leu) c.581C>T (p.Pro194Leu) c.39C>T c.521C>T (p.Pro174Leu) n.375C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.116022470G>C | CA386872138 | MED13L | c.611C>G (p.Pro204Arg) c.581C>G (p.Pro194Arg) c.39C>G c.521C>G (p.Pro174Arg) n.375C>G | |
| 12 | g.116022470G= | CA2065398553 | MED13L | c.611C= (p.Pro204=) c.581C= (p.Pro194=) c.39C= c.521C= (p.Pro174=) n.375C= | |
| 12 | g.116022470G>T | CA386872139 | MED13L | c.611C>A (p.Pro204His) c.581C>A (p.Pro194His) c.39C>A c.521C>A (p.Pro174His) n.375C>A | |
| 12 | g.116022471G>A | CA386872142 | MED13L | c.610C>T (p.Pro204Ser) c.580C>T (p.Pro194Ser) c.38C>T c.520C>T (p.Pro174Ser) n.374C>T | dbSNP gnomAD v2 |
| 12 | g.116022471G>C | CA386872140 | MED13L | c.610C>G (p.Pro204Ala) c.580C>G (p.Pro194Ala) c.38C>G c.520C>G (p.Pro174Ala) n.374C>G | ClinVar |
| 12 | g.116022471G= | CA2065398557 | MED13L | c.610C= (p.Pro204=) c.580C= (p.Pro194=) c.38C= c.520C= (p.Pro174=) n.374C= | |
| 12 | g.116022471G>T | CA386872141 | MED13L | c.610C>A (p.Pro204Thr) c.580C>A (p.Pro194Thr) c.38C>A c.520C>A (p.Pro174Thr) n.374C>A | |
| 12 | g.116022472T>A | CA481933586 | MED13L | c.609A>T (p.Ser203=) c.579A>T (p.Ser193=) c.37A>T c.519A>T (p.Ser173=) n.373A>T | |
| 12 | g.116022472T>C | CA481933584 | MED13L | c.609A>G (p.Ser203=) c.579A>G (p.Ser193=) c.37A>G c.519A>G (p.Ser173=) n.373A>G | |
| 12 | g.116022472T>G | CA481933585 | MED13L | c.609A>C (p.Ser203=) c.579A>C (p.Ser193=) c.37A>C c.519A>C (p.Ser173=) n.373A>C | gnomAD v4 |
| 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 |