| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42694991T>A | CA359695155 | GHR | c.341T>A (p.Phe114Tyr) c.275T>A (p.Phe92Tyr) c.211T>A (p.Leu71Ile) c.362T>A (p.Phe121Tyr) c.296T>A (p.Phe99Tyr) | |
| 5 | g.42694991T>C | CA119790 | GHR | c.341T>C (p.Phe114Ser) c.275T>C (p.Phe92Ser) c.211T>C (p.Leu71=) c.362T>C (p.Phe121Ser) c.296T>C (p.Phe99Ser) | ClinVar dbSNP |
| 5 | g.42694991T>G | CA359695156 | GHR | c.341T>G (p.Phe114Cys) c.275T>G (p.Phe92Cys) c.211T>G (p.Leu71Val) c.362T>G (p.Phe121Cys) c.296T>G (p.Phe99Cys) | gnomAD v4 |
| 5 | g.42694991T= | CA1542287856 | GHR | c.341T= (p.Phe114=) c.275T= (p.Phe92=) c.211T= (p.Leu71=) c.362T= (p.Phe121=) c.296T= (p.Phe99=) | |
| 5 | g.42694992T>A | CA359695157 | GHR | c.342T>A (p.Phe114Leu) c.276T>A (p.Phe92Leu) c.212T>A (p.Leu71Ter) c.363T>A (p.Phe121Leu) c.297T>A (p.Phe99Leu) | |
| 5 | g.42694992T>C | CA443840745 | GHR | c.342T>C (p.Phe114=) c.276T>C (p.Phe92=) c.212T>C (p.Leu71Ser) c.363T>C (p.Phe121=) c.297T>C (p.Phe99=) | |
| 5 | g.42694992T>G | CA359695158 | GHR | c.342T>G (p.Phe114Leu) c.276T>G (p.Phe92Leu) c.212T>G (p.Leu71Ter) c.363T>G (p.Phe121Leu) c.297T>G (p.Phe99Leu) | |
| 5 | g.42694993A>C | CA359695159 | GHR | c.343A>C (p.Asn115His) c.277A>C (p.Asn93His) c.213A>C (p.Leu71Phe) c.364A>C (p.Asn122His) c.298A>C (p.Asn100His) | |
| 5 | g.42694993A>G | CA359695160 | GHR | c.343A>G (p.Asn115Asp) c.277A>G (p.Asn93Asp) c.213A>G (p.Leu71=) c.364A>G (p.Asn122Asp) c.298A>G (p.Asn100Asp) | |
| 5 | g.42694993A>T | CA359695161 | GHR | c.343A>T (p.Asn115Tyr) c.277A>T (p.Asn93Tyr) c.213A>T (p.Leu71Phe) c.364A>T (p.Asn122Tyr) c.298A>T (p.Asn100Tyr) | |
| 5 | g.42694994A= | CA1542287875 | GHR | c.344A= (p.Asn115=) c.278A= (p.Asn93=) c.214A= (p.Ile72=) c.365A= (p.Asn122=) c.299A= (p.Asn100=) | |
| 5 | g.42694994A>C | CA359695162 | GHR | c.344A>C (p.Asn115Thr) c.278A>C (p.Asn93Thr) c.214A>C (p.Ile72Leu) c.365A>C (p.Asn122Thr) c.299A>C (p.Asn100Thr) | ClinVar dbSNP |
| 5 | g.42694994A>G | CA359695163 | GHR | c.344A>G (p.Asn115Ser) c.278A>G (p.Asn93Ser) c.214A>G (p.Ile72Val) c.365A>G (p.Asn122Ser) c.299A>G (p.Asn100Ser) | |
| 5 | g.42694994A>T | CA359695164 | GHR | c.344A>T (p.Asn115Ile) c.278A>T (p.Asn93Ile) c.214A>T (p.Ile72Phe) c.365A>T (p.Asn122Ile) c.299A>T (p.Asn100Ile) | |
| 5 | g.42694995T>A | CA359695165 | GHR | c.345T>A (p.Asn115Lys) c.279T>A (p.Asn93Lys) c.215T>A (p.Ile72Asn) c.366T>A (p.Asn122Lys) c.300T>A (p.Asn100Lys) | |
| 5 | g.42694995T>C | CA443840762 | GHR | c.345T>C (p.Asn115=) c.279T>C (p.Asn93=) c.215T>C (p.Ile72Thr) c.366T>C (p.Asn122=) c.300T>C (p.Asn100=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42694995T>G | CA359695166 | GHR | c.345T>G (p.Asn115Lys) c.279T>G (p.Asn93Lys) c.215T>G (p.Ile72Ser) c.366T>G (p.Asn122Lys) c.300T>G (p.Asn100Lys) | |
| 5 | g.42694995T= | CA1542287878 | GHR | c.345T= (p.Asn115=) c.279T= (p.Asn93=) c.215T= (p.Ile72=) c.366T= (p.Asn122=) c.300T= (p.Asn100=) | |
| 5 | g.42694996T>A | CA359695169 | GHR | c.346T>A (p.Ser116Thr) c.280T>A (p.Ser94Thr) c.216T>A (p.Ile72=) c.367T>A (p.Ser123Thr) c.301T>A (p.Ser101Thr) | |
| 5 | g.42694996T>C | CA359695168 | GHR | c.346T>C (p.Ser116Pro) c.280T>C (p.Ser94Pro) c.216T>C (p.Ile72=) c.367T>C (p.Ser123Pro) c.301T>C (p.Ser101Pro) | |
| 5 | g.42694996T>G | CA359695167 | GHR | c.346T>G (p.Ser116Ala) c.280T>G (p.Ser94Ala) c.216T>G (p.Ile72Met) c.367T>G (p.Ser123Ala) c.301T>G (p.Ser101Ala) | |
| 5 | g.42694997C>A | CA359695170 | GHR | c.347C>A (p.Ser116Ter) c.281C>A (p.Ser94Ter) c.217C>A (p.His73Asn) c.368C>A (p.Ser123Ter) c.302C>A (p.Ser101Ter) | |
| 5 | g.42694997C>G | CA359695171 | GHR | c.347C>G (p.Ser116Ter) c.281C>G (p.Ser94Ter) c.217C>G (p.His73Asp) c.368C>G (p.Ser123Ter) c.302C>G (p.Ser101Ter) | |
| 5 | g.42694997C>T | CA359695172 | GHR | c.347C>T (p.Ser116Leu) c.281C>T (p.Ser94Leu) c.217C>T (p.His73Tyr) c.368C>T (p.Ser123Leu) c.302C>T (p.Ser101Leu) | |
| 5 | g.42694998del | CA2673723657 | GHR | c.348del (p.Ser117ArgfsTer13) c.282del (p.Ser95ArgfsTer13) c.218del (p.His73LeufsTer15) c.369del (p.Ser124ArgfsTer13) c.303del (p.Ser102ArgfsTer13) | gnomAD v4 |
| 5 | g.42694998A>C | CA443840778 | GHR | c.348A>C (p.Ser116=) c.282A>C (p.Ser94=) c.218A>C (p.His73Pro) c.369A>C (p.Ser123=) c.303A>C (p.Ser101=) | |
| 5 | g.42694998A>G | CA443840780 | GHR | c.348A>G (p.Ser116=) c.282A>G (p.Ser94=) c.218A>G (p.His73Arg) c.369A>G (p.Ser123=) c.303A>G (p.Ser101=) | |
| 5 | g.42694998A>T | CA443840782 | GHR | c.348A>T (p.Ser116=) c.282A>T (p.Ser94=) c.218A>T (p.His73Leu) c.369A>T (p.Ser123=) c.303A>T (p.Ser101=) | |
| 5 | g.42694999T>A | CA359695173 | GHR | c.349T>A (p.Ser117Thr) c.283T>A (p.Ser95Thr) c.219T>A (p.His73Gln) c.370T>A (p.Ser124Thr) c.304T>A (p.Ser102Thr) | |
| 5 | g.42694999T>C | CA359695174 | GHR | c.349T>C (p.Ser117Pro) c.283T>C (p.Ser95Pro) c.219T>C (p.His73=) c.370T>C (p.Ser124Pro) c.304T>C (p.Ser102Pro) | |
| 5 | g.42694999T>G | CA359695175 | GHR | c.349T>G (p.Ser117Ala) c.283T>G (p.Ser95Ala) c.219T>G (p.His73Gln) c.370T>G (p.Ser124Ala) c.304T>G (p.Ser102Ala) | gnomAD v4 |
| 5 | g.42695000C>A | CA3254380 | GHR | c.350C>A (p.Ser117Ter) c.284C>A (p.Ser95Ter) c.220C>A (p.Arg74Ser) c.371C>A (p.Ser124Ter) c.305C>A (p.Ser102Ter) | dbSNP ExAC |
| 5 | g.42695000C= | CA1542287883 | GHR | c.350C= (p.Ser117=) c.284C= (p.Ser95=) c.220C= (p.Arg74=) c.371C= (p.Ser124=) c.305C= (p.Ser102=) | |
| 5 | g.42695000C>G | CA359695176 | GHR | c.350C>G (p.Ser117Trp) c.284C>G (p.Ser95Trp) c.220C>G (p.Arg74Gly) c.371C>G (p.Ser124Trp) c.305C>G (p.Ser102Trp) | |
| 5 | g.42695000C>T | CA359695177 | GHR | c.350C>T (p.Ser117Leu) c.284C>T (p.Ser95Leu) c.220C>T (p.Arg74Cys) c.371C>T (p.Ser124Leu) c.305C>T (p.Ser102Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.42695001G>A | CA3254381 | GHR | c.351G>A (p.Ser117=) c.285G>A (p.Ser95=) c.221G>A (p.Arg74His) c.372G>A (p.Ser124=) c.306G>A (p.Ser102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42695001G>C | CA443840798 | GHR | c.351G>C (p.Ser117=) c.285G>C (p.Ser95=) c.221G>C (p.Arg74Pro) c.372G>C (p.Ser124=) c.306G>C (p.Ser102=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42695001G= | CA1542287886 | GHR | c.351G= (p.Ser117=) c.285G= (p.Ser95=) c.221G= (p.Arg74=) c.372G= (p.Ser124=) c.306G= (p.Ser102=) | |
| 5 | g.42695001G>T | CA443840800 | GHR | c.351G>T (p.Ser117=) c.285G>T (p.Ser95=) c.221G>T (p.Arg74Leu) c.372G>T (p.Ser124=) c.306G>T (p.Ser102=) | |
| 5 | g.42695002T>A | CA359695178 | GHR | c.352T>A (p.Phe118Ile) c.286T>A (p.Phe96Ile) c.222T>A (p.Arg74=) c.373T>A (p.Phe125Ile) c.307T>A (p.Phe103Ile) | |
| 5 | g.42695002T>C | CA359695179 | GHR | c.352T>C (p.Phe118Leu) c.286T>C (p.Phe96Leu) c.222T>C (p.Arg74=) c.373T>C (p.Phe125Leu) c.307T>C (p.Phe103Leu) | |
| 5 | g.42695002T>G | CA359695180 | GHR | c.352T>G (p.Phe118Val) c.286T>G (p.Phe96Val) c.222T>G (p.Arg74=) c.373T>G (p.Phe125Val) c.307T>G (p.Phe103Val) | |
| 5 | g.42695003T>A | CA359695182 | GHR | c.353T>A (p.Phe118Tyr) c.287T>A (p.Phe96Tyr) c.223T>A (p.Leu75Ile) c.374T>A (p.Phe125Tyr) c.308T>A (p.Phe103Tyr) | |
| 5 | g.42695003T>C | CA359695183 | GHR | c.353T>C (p.Phe118Ser) c.287T>C (p.Phe96Ser) c.223T>C (p.Leu75=) c.374T>C (p.Phe125Ser) c.308T>C (p.Phe103Ser) | |
| 5 | g.42695003T>G | CA359695181 | GHR | c.353T>G (p.Phe118Cys) c.287T>G (p.Phe96Cys) c.223T>G (p.Leu75Val) c.374T>G (p.Phe125Cys) c.308T>G (p.Phe103Cys) | |
| 5 | g.42695004T>A | CA359695185 | GHR | c.354T>A (p.Phe118Leu) c.288T>A (p.Phe96Leu) c.224T>A (p.Leu75Ter) c.375T>A (p.Phe125Leu) c.309T>A (p.Phe103Leu) | |
| 5 | g.42695004T>C | CA443840810 | GHR | c.354T>C (p.Phe118=) c.288T>C (p.Phe96=) c.224T>C (p.Leu75Ser) c.375T>C (p.Phe125=) c.309T>C (p.Phe103=) | |
| 5 | g.42695004T>G | CA359695184 | GHR | c.354T>G (p.Phe118Leu) c.288T>G (p.Phe96Leu) c.224T>G (p.Leu75Ter) c.375T>G (p.Phe125Leu) c.309T>G (p.Phe103Leu) | |
| 5 | g.42695005A>C | CA359695188 | GHR | c.355A>C (p.Thr119Pro) c.289A>C (p.Thr97Pro) c.225A>C (p.Leu75Phe) c.376A>C (p.Thr126Pro) c.310A>C (p.Thr104Pro) | |
| 5 | g.42695005A>G | CA359695186 | GHR | c.355A>G (p.Thr119Ala) c.289A>G (p.Thr97Ala) c.225A>G (p.Leu75=) c.376A>G (p.Thr126Ala) c.310A>G (p.Thr104Ala) | gnomAD v4 |