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 |
|---|---|---|---|---|---|
| 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 |
| 5 | g.42695005A>T | CA359695187 | GHR | c.355A>T (p.Thr119Ser) c.289A>T (p.Thr97Ser) c.225A>T (p.Leu75Phe) c.376A>T (p.Thr126Ser) c.310A>T (p.Thr104Ser) | |
| 5 | g.42695006C>A | CA359695189 | GHR | c.356C>A (p.Thr119Asn) c.290C>A (p.Thr97Asn) c.226C>A (p.Pro76Thr) c.377C>A (p.Thr126Asn) c.311C>A (p.Thr104Asn) | |
| 5 | g.42695006C>G | CA359695190 | GHR | c.356C>G (p.Thr119Ser) c.290C>G (p.Thr97Ser) c.226C>G (p.Pro76Ala) c.377C>G (p.Thr126Ser) c.311C>G (p.Thr104Ser) | |
| 5 | g.42695006C>T | CA359695191 | GHR | c.356C>T (p.Thr119Ile) c.290C>T (p.Thr97Ile) c.226C>T (p.Pro76Ser) c.377C>T (p.Thr126Ile) c.311C>T (p.Thr104Ile) | gnomAD v4 |
| 5 | g.42695007C>A | CA443840817 | GHR | c.357C>A (p.Thr119=) c.291C>A (p.Thr97=) c.227C>A (p.Pro76His) c.378C>A (p.Thr126=) c.312C>A (p.Thr104=) | |
| 5 | g.42695007C>G | CA443840818 | GHR | c.357C>G (p.Thr119=) c.291C>G (p.Thr97=) c.227C>G (p.Pro76Arg) c.378C>G (p.Thr126=) c.312C>G (p.Thr104=) | |
| 5 | g.42695007C>T | CA443840824 | GHR | c.357C>T (p.Thr119=) c.291C>T (p.Thr97=) c.227C>T (p.Pro76Leu) c.378C>T (p.Thr126=) c.312C>T (p.Thr104=) | |
| 5 | g.42695008T>A | CA118047679 | GHR | c.358T>A (p.Ser120Thr) c.292T>A (p.Ser98Thr) c.228T>A (p.Pro76=) c.379T>A (p.Ser127Thr) c.313T>A (p.Ser105Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42695008T>C | CA359695193 | GHR | c.358T>C (p.Ser120Pro) c.292T>C (p.Ser98Pro) c.228T>C (p.Pro76=) c.379T>C (p.Ser127Pro) c.313T>C (p.Ser105Pro) | gnomAD v4 |
| 5 | g.42695008T>G | CA359695192 | GHR | c.358T>G (p.Ser120Ala) c.292T>G (p.Ser98Ala) c.228T>G (p.Pro76=) c.379T>G (p.Ser127Ala) c.313T>G (p.Ser105Ala) | |
| 5 | g.42695008T= | CA1542287894 | GHR | c.358T= (p.Ser120=) c.292T= (p.Ser98=) c.228T= (p.Pro76=) c.379T= (p.Ser127=) c.313T= (p.Ser105=) | |
| 5 | g.42695009C>A | CA359695194 | GHR | c.359C>A (p.Ser120Tyr) c.293C>A (p.Ser98Tyr) c.229C>A (p.Pro77Thr) c.380C>A (p.Ser127Tyr) c.314C>A (p.Ser105Tyr) | |
| 5 | g.42695009C>G | CA359695196 | GHR | c.359C>G (p.Ser120Cys) c.293C>G (p.Ser98Cys) c.229C>G (p.Pro77Ala) c.380C>G (p.Ser127Cys) c.314C>G (p.Ser105Cys) | |
| 5 | g.42695009C>T | CA359695197 | GHR | c.359C>T (p.Ser120Phe) c.293C>T (p.Ser98Phe) c.229C>T (p.Pro77Ser) c.380C>T (p.Ser127Phe) c.314C>T (p.Ser105Phe) | |
| 5 | g.42695010C>A | CA443840833 | GHR | c.360C>A (p.Ser120=) c.294C>A (p.Ser98=) c.230C>A (p.Pro77Gln) c.381C>A (p.Ser127=) c.315C>A (p.Ser105=) | gnomAD v4 |
| 5 | g.42695010C>G | CA443840838 | GHR | c.360C>G (p.Ser120=) c.294C>G (p.Ser98=) c.230C>G (p.Pro77Arg) c.381C>G (p.Ser127=) c.315C>G (p.Ser105=) | |
| 5 | g.42695010C>T | CA443840836 | GHR | c.360C>T (p.Ser120=) c.294C>T (p.Ser98=) c.230C>T (p.Pro77Leu) c.381C>T (p.Ser127=) c.315C>T (p.Ser105=) | |
| 5 | g.42695011A= | CA1542287898 | GHR | c.361A= (p.Ile121=) c.295A= (p.Ile99=) c.231A= (p.Pro77=) c.382A= (p.Ile128=) c.316A= (p.Ile106=) | |
| 5 | g.42695011A>C | CA359695198 | GHR | c.361A>C (p.Ile121Leu) c.295A>C (p.Ile99Leu) c.231A>C (p.Pro77=) c.382A>C (p.Ile128Leu) c.316A>C (p.Ile106Leu) | |
| 5 | g.42695011A>G | CA359695199 | GHR | c.361A>G (p.Ile121Val) c.295A>G (p.Ile99Val) c.231A>G (p.Pro77=) c.382A>G (p.Ile128Val) c.316A>G (p.Ile106Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42695011A>T | CA359695200 | GHR | c.361A>T (p.Ile121Phe) c.295A>T (p.Ile99Phe) c.231A>T (p.Pro77=) c.382A>T (p.Ile128Phe) c.316A>T (p.Ile106Phe) | |
| 5 | g.42695012T>A | CA359695201 | GHR | c.362T>A (p.Ile121Asn) c.296T>A (p.Ile99Asn) c.232T>A (p.Ser78Thr) c.383T>A (p.Ile128Asn) c.317T>A (p.Ile106Asn) | |
| 5 | g.42695012T>C | CA359695202 | GHR | c.362T>C (p.Ile121Thr) c.296T>C (p.Ile99Thr) c.232T>C (p.Ser78Pro) c.383T>C (p.Ile128Thr) c.317T>C (p.Ile106Thr) | dbSNP gnomAD v4 |
| 5 | g.42695012T>G | CA3254382 | GHR | c.362T>G (p.Ile121Ser) c.296T>G (p.Ile99Ser) c.232T>G (p.Ser78Ala) c.383T>G (p.Ile128Ser) c.317T>G (p.Ile106Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.42695012T= | CA1542287905 | GHR | c.362T= (p.Ile121=) c.296T= (p.Ile99=) c.232T= (p.Ser78=) c.383T= (p.Ile128=) c.317T= (p.Ile106=) | |
| 5 | g.42695013C>A | CA443840852 | GHR | c.363C>A (p.Ile121=) c.297C>A (p.Ile99=) c.233C>A (p.Ser78Tyr) c.384C>A (p.Ile128=) c.318C>A (p.Ile106=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42695013C= | CA1542287915 | GHR | c.363C= (p.Ile121=) c.297C= (p.Ile99=) c.233C= (p.Ser78=) c.384C= (p.Ile128=) c.318C= (p.Ile106=) | |
| 5 | g.42695013C>G | CA359695203 | GHR | c.363C>G (p.Ile121Met) c.297C>G (p.Ile99Met) c.233C>G (p.Ser78Cys) c.384C>G (p.Ile128Met) c.318C>G (p.Ile106Met) | |
| 5 | g.42695013C>T | CA443840859 | GHR | c.363C>T (p.Ile121=) c.297C>T (p.Ile99=) c.233C>T (p.Ser78Phe) c.384C>T (p.Ile128=) c.318C>T (p.Ile106=) | |
| 5 | g.42695014T>A | CA359695204 | GHR | c.364T>A (p.Trp122Arg) c.298T>A (p.Trp100Arg) c.234T>A (p.Ser78=) c.385T>A (p.Trp129Arg) c.319T>A (p.Trp107Arg) | |
| 5 | g.42695014T>C | CA359695205 | GHR | c.364T>C (p.Trp122Arg) c.298T>C (p.Trp100Arg) c.234T>C (p.Ser78=) c.385T>C (p.Trp129Arg) c.319T>C (p.Trp107Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.42695014T>G | CA3254383 | GHR | c.364T>G (p.Trp122Gly) c.298T>G (p.Trp100Gly) c.234T>G (p.Ser78=) c.385T>G (p.Trp129Gly) c.319T>G (p.Trp107Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.42695014T= | CA1542287922 | GHR | c.364T= (p.Trp122=) c.298T= (p.Trp100=) c.234T= (p.Ser78=) c.385T= (p.Trp129=) c.319T= (p.Trp107=) | |
| 5 | g.42695015G>A | CA359695206 | GHR | c.365G>A (p.Trp122Ter) c.299G>A (p.Trp100Ter) c.235G>A (p.Gly79Arg) c.386G>A (p.Trp129Ter) c.320G>A (p.Trp107Ter) | gnomAD v4 |
| 5 | g.42695015G>C | CA359695207 | GHR | c.365G>C (p.Trp122Ser) c.299G>C (p.Trp100Ser) c.235G>C (p.Gly79Arg) c.386G>C (p.Trp129Ser) c.320G>C (p.Trp107Ser) | |
| 5 | g.42695015G>T | CA359695208 | GHR | c.365G>T (p.Trp122Leu) c.299G>T (p.Trp100Leu) c.235G>T (p.Gly79Ter) c.386G>T (p.Trp129Leu) c.320G>T (p.Trp107Leu) | |
| 5 | g.42695016G>A | CA359695209 | GHR | c.366G>A (p.Trp122Ter) c.300G>A (p.Trp100Ter) c.236G>A (p.Gly79Glu) c.387G>A (p.Trp129Ter) c.321G>A (p.Trp107Ter) | |
| 5 | g.42695016G>C | CA359695210 | GHR | c.366G>C (p.Trp122Cys) c.300G>C (p.Trp100Cys) c.236G>C (p.Gly79Ala) c.387G>C (p.Trp129Cys) c.321G>C (p.Trp107Cys) | |
| 5 | g.42695016G>T | CA359695211 | GHR | c.366G>T (p.Trp122Cys) c.300G>T (p.Trp100Cys) c.236G>T (p.Gly79Val) c.387G>T (p.Trp129Cys) c.321G>T (p.Trp107Cys) | |
| 5 | g.42695017A= | CA1542287930 | GHR | c.367A= (p.Ile123=) c.301A= (p.Ile101=) c.237A= (p.Gly79=) c.388A= (p.Ile130=) c.322A= (p.Ile108=) | |
| 5 | g.42695017A>C | CA3254384 | GHR | c.367A>C (p.Ile123Leu) c.301A>C (p.Ile101Leu) c.237A>C (p.Gly79=) c.388A>C (p.Ile130Leu) c.322A>C (p.Ile108Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42695017A>G | CA359695213 | GHR | c.367A>G (p.Ile123Val) c.301A>G (p.Ile101Val) c.237A>G (p.Gly79=) c.388A>G (p.Ile130Val) c.322A>G (p.Ile108Val) | |
| 5 | g.42695017A>T | CA359695212 | GHR | c.367A>T (p.Ile123Leu) c.301A>T (p.Ile101Leu) c.237A>T (p.Gly79=) c.388A>T (p.Ile130Leu) c.322A>T (p.Ile108Leu) | gnomAD v4 |
| 5 | g.42695018T>A | CA359695214 | GHR | c.368T>A (p.Ile123Lys) c.302T>A (p.Ile101Lys) c.238T>A (p.Tyr80Asn) c.389T>A (p.Ile130Lys) c.323T>A (p.Ile108Lys) | |
| 5 | g.42695018T>C | CA359695215 | GHR | c.368T>C (p.Ile123Thr) c.302T>C (p.Ile101Thr) c.238T>C (p.Tyr80His) c.389T>C (p.Ile130Thr) c.323T>C (p.Ile108Thr) | gnomAD v4 |
| 5 | g.42695018T>G | CA359695216 | GHR | c.368T>G (p.Ile123Arg) c.302T>G (p.Ile101Arg) c.238T>G (p.Tyr80Asp) c.389T>G (p.Ile130Arg) c.323T>G (p.Ile108Arg) | |
| 5 | g.42695019A>C | CA443840890 | GHR | c.369A>C (p.Ile123=) c.303A>C (p.Ile101=) c.239A>C (p.Tyr80Ser) c.390A>C (p.Ile130=) c.324A>C (p.Ile108=) | |
| 5 | g.42695019A>G | CA359695217 | GHR | c.369A>G (p.Ile123Met) c.303A>G (p.Ile101Met) c.239A>G (p.Tyr80Cys) c.390A>G (p.Ile130Met) c.324A>G (p.Ile108Met) | |
| 5 | g.42695019A>T | CA443840887 | GHR | c.369A>T (p.Ile123=) c.303A>T (p.Ile101=) c.239A>T (p.Tyr80Phe) c.390A>T (p.Ile130=) c.324A>T (p.Ile108=) | |
| 5 | g.42695020C>A | CA359695218 | GHR | c.370C>A (p.Pro124Thr) c.304C>A (p.Pro102Thr) c.240C>A (p.Tyr80Ter) c.391C>A (p.Pro131Thr) c.325C>A (p.Pro109Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42695020C= | CA1542287938 | GHR | c.370C= (p.Pro124=) c.304C= (p.Pro102=) c.240C= (p.Tyr80=) c.391C= (p.Pro131=) c.325C= (p.Pro109=) | |
| 5 | g.42695020C>G | CA359695219 | GHR | c.370C>G (p.Pro124Ala) c.304C>G (p.Pro102Ala) c.240C>G (p.Tyr80Ter) c.391C>G (p.Pro131Ala) c.325C>G (p.Pro109Ala) | |
| 5 | g.42695020C>T | CA359695220 | GHR | c.370C>T (p.Pro124Ser) c.304C>T (p.Pro102Ser) c.240C>T (p.Tyr80=) c.391C>T (p.Pro131Ser) c.325C>T (p.Pro109Ser) | |
| 5 | g.42695021C>A | CA359695221 | GHR | c.371C>A (p.Pro124His) c.305C>A (p.Pro102His) c.241C>A (p.Leu81Ile) c.392C>A (p.Pro131His) c.326C>A (p.Pro109His) | |
| 5 | g.42695021C= | CA1542287948 | GHR | c.371C= (p.Pro124=) c.305C= (p.Pro102=) c.241C= (p.Leu81=) c.392C= (p.Pro131=) c.326C= (p.Pro109=) | |
| 5 | g.42695021C>G | CA359695222 | GHR | c.371C>G (p.Pro124Arg) c.305C>G (p.Pro102Arg) c.241C>G (p.Leu81Val) c.392C>G (p.Pro131Arg) c.326C>G (p.Pro109Arg) | |
| 5 | g.42695021C>T | CA359695223 | GHR | c.371C>T (p.Pro124Leu) c.305C>T (p.Pro102Leu) c.241C>T (p.Leu81Phe) c.392C>T (p.Pro131Leu) c.326C>T (p.Pro109Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42695022T>A | CA443840905 | GHR | c.372T>A (p.Pro124=) c.306T>A (p.Pro102=) c.242T>A (p.Leu81His) c.393T>A (p.Pro131=) c.327T>A (p.Pro109=) | |
| 5 | g.42695022T>C | CA443840907 | GHR | c.372T>C (p.Pro124=) c.306T>C (p.Pro102=) c.242T>C (p.Leu81Pro) c.393T>C (p.Pro131=) c.327T>C (p.Pro109=) | |
| 5 | g.42695022T>G | CA443840916 | GHR | c.372T>G (p.Pro124=) c.306T>G (p.Pro102=) c.242T>G (p.Leu81Arg) c.393T>G (p.Pro131=) c.327T>G (p.Pro109=) | COSMIC |
| 5 | g.42695022_42695028del | CA2578302077 | GHR | c.372_378del (p.Tyr125SerfsTer3) c.306_312del (p.Tyr103SerfsTer3) c.242_248del (p.Leu81HisfsTer5) c.393_399del (p.Tyr132SerfsTer3) c.327_333del (p.Tyr110SerfsTer3) | gnomAD v4 |
| 5 | g.42695023T>A | CA359695224 | GHR | c.373T>A (p.Tyr125Asn) c.307T>A (p.Tyr103Asn) c.243T>A (p.Leu81=) c.394T>A (p.Tyr132Asn) c.328T>A (p.Tyr110Asn) | |
| 5 | g.42695023T>C | CA359695225 | GHR | c.373T>C (p.Tyr125His) c.307T>C (p.Tyr103His) c.243T>C (p.Leu81=) c.394T>C (p.Tyr132His) c.328T>C (p.Tyr110His) | |
| 5 | g.42695023T>G | CA359695226 | GHR | c.373T>G (p.Tyr125Asp) c.307T>G (p.Tyr103Asp) c.243T>G (p.Leu81=) c.394T>G (p.Tyr132Asp) c.328T>G (p.Tyr110Asp) | gnomAD v4 |
| 5 | g.42695024A>C | CA359695229 | GHR | c.374A>C (p.Tyr125Ser) c.308A>C (p.Tyr103Ser) c.244A>C (p.Ile82Leu) c.395A>C (p.Tyr132Ser) c.329A>C (p.Tyr110Ser) | |
| 5 | g.42695024A>G | CA359695227 | GHR | c.374A>G (p.Tyr125Cys) c.308A>G (p.Tyr103Cys) c.244A>G (p.Ile82Val) c.395A>G (p.Tyr132Cys) c.329A>G (p.Tyr110Cys) | |
| 5 | g.42695024A>T | CA359695228 | GHR | c.374A>T (p.Tyr125Phe) c.308A>T (p.Tyr103Phe) c.244A>T (p.Ile82Phe) c.395A>T (p.Tyr132Phe) c.329A>T (p.Tyr110Phe) | |
| 5 | g.42695025T>A | CA359695230 | GHR | c.375T>A (p.Tyr125Ter) c.309T>A (p.Tyr103Ter) c.245T>A (p.Ile82Asn) c.396T>A (p.Tyr132Ter) c.330T>A (p.Tyr110Ter) | |
| 5 | g.42695025T>C | CA3254385 | GHR | c.375T>C (p.Tyr125=) c.309T>C (p.Tyr103=) c.245T>C (p.Ile82Thr) c.396T>C (p.Tyr132=) c.330T>C (p.Tyr110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42695025T>G | CA359695231 | GHR | c.375T>G (p.Tyr125Ter) c.309T>G (p.Tyr103Ter) c.245T>G (p.Ile82Ser) c.396T>G (p.Tyr132Ter) c.330T>G (p.Tyr110Ter) | |
| 5 | g.42695025T= | CA1542287951 | GHR | c.375T= (p.Tyr125=) c.309T= (p.Tyr103=) c.245T= (p.Ile82=) c.396T= (p.Tyr132=) c.330T= (p.Tyr110=) | |
| 5 | g.42695026T>A | CA359695232 | GHR | c.376T>A (p.Cys126Ser) c.310T>A (p.Cys104Ser) c.246T>A (p.Ile82=) c.397T>A (p.Cys133Ser) c.331T>A (p.Cys111Ser) | |
| 5 | g.42695026T>C | CA359695233 | GHR | c.376T>C (p.Cys126Arg) c.310T>C (p.Cys104Arg) c.246T>C (p.Ile82=) c.397T>C (p.Cys133Arg) c.331T>C (p.Cys111Arg) | |
| 5 | g.42695026T>G | CA359695234 | GHR | c.376T>G (p.Cys126Gly) c.310T>G (p.Cys104Gly) c.246T>G (p.Ile82Met) c.397T>G (p.Cys133Gly) c.331T>G (p.Cys111Gly) | |
| 5 | g.42695027G>A | CA359695235 | GHR | c.377G>A (p.Cys126Tyr) c.311G>A (p.Cys104Tyr) c.247G>A (p.Val83Ile) c.398G>A (p.Cys133Tyr) c.332G>A (p.Cys111Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42695027G>C | CA359695236 | GHR | c.377G>C (p.Cys126Ser) c.311G>C (p.Cys104Ser) c.247G>C (p.Val83Leu) c.398G>C (p.Cys133Ser) c.332G>C (p.Cys111Ser) | |
| 5 | g.42695027G= | CA1542287960 | GHR | c.377G= (p.Cys126=) c.311G= (p.Cys104=) c.247G= (p.Val83=) c.398G= (p.Cys133=) c.332G= (p.Cys111=) | |
| 5 | g.42695027G>T | CA359695237 | GHR | c.377G>T (p.Cys126Phe) c.311G>T (p.Cys104Phe) c.247G>T (p.Val83Leu) c.398G>T (p.Cys133Phe) c.332G>T (p.Cys111Phe) | gnomAD v4 |
| 5 | g.42695028T>A | CA359695238 | GHR | c.378T>A (p.Cys126Ter) c.312T>A (p.Cys104Ter) c.248T>A (p.Val83Glu) c.399T>A (p.Cys133Ter) c.333T>A (p.Cys111Ter) | |
| 5 | g.42695028T>C | CA443840939 | GHR | c.378T>C (p.Cys126=) c.312T>C (p.Cys104=) c.248T>C (p.Val83Ala) c.399T>C (p.Cys133=) c.333T>C (p.Cys111=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42695028T>G | CA359695239 | GHR | c.378T>G (p.Cys126Trp) c.312T>G (p.Cys104Trp) c.248T>G (p.Val83Gly) c.399T>G (p.Cys133Trp) c.333T>G (p.Cys111Trp) | |
| 5 | g.42695028T= | CA1542287964 | GHR | c.378T= (p.Cys126=) c.312T= (p.Cys104=) c.248T= (p.Val83=) c.399T= (p.Cys133=) c.333T= (p.Cys111=) | |
| 5 | g.42695029A= | CA1542287974 | GHR | c.379A= (p.Ile127=) c.313A= (p.Ile105=) c.249A= (p.Val83=) c.400A= (p.Ile134=) c.334A= (p.Ile112=) | |
| 5 | g.42695029A>C | CA359695241 | GHR | c.379A>C (p.Ile127Leu) c.313A>C (p.Ile105Leu) c.249A>C (p.Val83=) c.400A>C (p.Ile134Leu) c.334A>C (p.Ile112Leu) | |
| 5 | g.42695029A>G | CA3254386 | GHR | c.379A>G (p.Ile127Val) c.313A>G (p.Ile105Val) c.249A>G (p.Val83=) c.400A>G (p.Ile134Val) c.334A>G (p.Ile112Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.42695029A>T | CA359695240 | GHR | c.379A>T (p.Ile127Phe) c.313A>T (p.Ile105Phe) c.249A>T (p.Val83=) c.400A>T (p.Ile134Phe) c.334A>T (p.Ile112Phe) | |
| 5 | g.42695030T>A | CA359695242 | GHR | c.380T>A (p.Ile127Asn) c.314T>A (p.Ile105Asn) c.250T>A (p.Ser84Thr) c.401T>A (p.Ile134Asn) c.335T>A (p.Ile112Asn) | |
| 5 | g.42695030T>C | CA359695243 | GHR | c.380T>C (p.Ile127Thr) c.314T>C (p.Ile105Thr) c.250T>C (p.Ser84Pro) c.401T>C (p.Ile134Thr) c.335T>C (p.Ile112Thr) | gnomAD v4 |
| 5 | g.42695030T>G | CA359695244 | GHR | c.380T>G (p.Ile127Ser) c.314T>G (p.Ile105Ser) c.250T>G (p.Ser84Ala) c.401T>G (p.Ile134Ser) c.335T>G (p.Ile112Ser) | |
| 5 | g.42695031C>A | CA443840953 | GHR | c.381C>A (p.Ile127=) c.315C>A (p.Ile105=) c.251C>A (p.Ser84Ter) c.402C>A (p.Ile134=) c.336C>A (p.Ile112=) | |
| 5 | g.42695031C= | CA1542287980 | GHR | c.381C= (p.Ile127=) c.315C= (p.Ile105=) c.251C= (p.Ser84=) c.402C= (p.Ile134=) c.336C= (p.Ile112=) | |
| 5 | g.42695031C>G | CA359695245 | GHR | c.381C>G (p.Ile127Met) c.315C>G (p.Ile105Met) c.251C>G (p.Ser84Ter) c.402C>G (p.Ile134Met) c.336C>G (p.Ile112Met) | COSMIC |
| 5 | g.42695031C>T | CA443840958 | GHR | c.381C>T (p.Ile127=) c.315C>T (p.Ile105=) c.251C>T (p.Ser84Leu) c.402C>T (p.Ile134=) c.336C>T (p.Ile112=) | dbSNP |
| 5 | g.42695032A>C | CA359695246 | GHR | c.382A>C (p.Lys128Gln) c.316A>C (p.Lys106Gln) c.252A>C (p.Ser84=) c.403A>C (p.Lys135Gln) c.337A>C (p.Lys113Gln) | |
| 5 | g.42695032A>G | CA359695247 | GHR | c.382A>G (p.Lys128Glu) c.316A>G (p.Lys106Glu) c.252A>G (p.Ser84=) c.403A>G (p.Lys135Glu) c.337A>G (p.Lys113Glu) | |
| 5 | g.42695032A>T | CA359695248 | GHR | c.382A>T (p.Lys128Ter) c.316A>T (p.Lys106Ter) c.252A>T (p.Ser84=) c.403A>T (p.Lys135Ter) c.337A>T (p.Lys113Ter) | |
| 5 | g.42695033A>C | CA359695249 | GHR | c.383A>C (p.Lys128Thr) c.317A>C (p.Lys106Thr) c.253A>C (p.Ser85Arg) c.404A>C (p.Lys135Thr) c.338A>C (p.Lys113Thr) | |
| 5 | g.42695033A>G | CA359695251 | GHR | c.383A>G (p.Lys128Arg) c.317A>G (p.Lys106Arg) c.253A>G (p.Ser85Gly) c.404A>G (p.Lys135Arg) c.338A>G (p.Lys113Arg) | |
| 5 | g.42695033A>T | CA359695250 | GHR | c.383A>T (p.Lys128Met) c.317A>T (p.Lys106Met) c.253A>T (p.Ser85Cys) c.404A>T (p.Lys135Met) c.338A>T (p.Lys113Met) | |
| 5 | g.42695034G>A | CA443840973 | GHR | c.384G>A (p.Lys128=) c.318G>A (p.Lys106=) c.254G>A (p.Ser85Asn) c.405G>A (p.Lys135=) c.339G>A (p.Lys113=) | |
| 5 | g.42695034G>C | CA359695252 | GHR | c.384G>C (p.Lys128Asn) c.318G>C (p.Lys106Asn) c.254G>C (p.Ser85Thr) c.405G>C (p.Lys135Asn) c.339G>C (p.Lys113Asn) | |
| 5 | g.42695034G>T | CA359695253 | GHR | c.384G>T (p.Lys128Asn) c.318G>T (p.Lys106Asn) c.254G>T (p.Ser85Ile) c.405G>T (p.Lys135Asn) c.339G>T (p.Lys113Asn) | gnomAD v4 COSMIC |
| 5 | g.42695035C>A | CA359695254 | GHR | c.385C>A (p.Leu129Ile) c.319C>A (p.Leu107Ile) c.255C>A (p.Ser85Arg) c.406C>A (p.Leu136Ile) c.340C>A (p.Leu114Ile) | |
| 5 | g.42695035C= | CA1542287985 | GHR | c.385C= (p.Leu129=) c.319C= (p.Leu107=) c.255C= (p.Ser85=) c.406C= (p.Leu136=) c.340C= (p.Leu114=) | |
| 5 | g.42695035C>G | CA359695255 | GHR | c.385C>G (p.Leu129Val) c.319C>G (p.Leu107Val) c.255C>G (p.Ser85Arg) c.406C>G (p.Leu136Val) c.340C>G (p.Leu114Val) | |
| 5 | g.42695035C>T | CA443840980 | GHR | c.385C>T (p.Leu129=) c.319C>T (p.Leu107=) c.255C>T (p.Ser85=) c.406C>T (p.Leu136=) c.340C>T (p.Leu114=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42695036T>A | CA359695258 | GHR | c.386T>A (p.Leu129Gln) c.320T>A (p.Leu107Gln) c.256T>A (p.Ter86Lys) c.407T>A (p.Leu136Gln) c.341T>A (p.Leu114Gln) | |
| 5 | g.42695036T>C | CA359695256 | GHR | c.386T>C (p.Leu129Pro) c.320T>C (p.Leu107Pro) c.256T>C (p.Ter86Gln) c.407T>C (p.Leu136Pro) c.341T>C (p.Leu114Pro) | |
| 5 | g.42695036T>G | CA359695257 | GHR | c.386T>G (p.Leu129Arg) c.320T>G (p.Leu107Arg) c.256T>G (p.Ter86Glu) c.407T>G (p.Leu136Arg) c.341T>G (p.Leu114Arg) | |
| 5 | g.42695037A= | CA1542287987 | GHR | c.387A= (p.Leu129=) c.321A= (p.Leu107=) c.257A= (p.Ter86=) c.408A= (p.Leu136=) c.342A= (p.Leu114=) | |
| 5 | g.42695037A>C | CA443840992 | GHR | c.387A>C (p.Leu129=) c.321A>C (p.Leu107=) c.257A>C (p.Ter86Ser) c.408A>C (p.Leu136=) c.342A>C (p.Leu114=) | |
| 5 | g.42695037A>G | CA443840995 | GHR | c.387A>G (p.Leu129=) c.321A>G (p.Leu107=) c.257A>G (p.Ter86=) c.408A>G (p.Leu136=) c.342A>G (p.Leu114=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42695037A>T | CA443840997 | GHR | c.387A>T (p.Leu129=) c.321A>T (p.Leu107=) c.257A>T (p.Ter86Leu) c.408A>T (p.Leu136=) c.342A>T (p.Leu114=) | |
| 5 | g.42695038A= | CA1542287990 | GHR | c.388A= (p.Thr130=) c.322A= (p.Thr108=) c.258A= (p.Ter86=) c.409A= (p.Thr137=) c.343A= (p.Thr115=) | |
| 5 | g.42695038A>C | CA359695259 | GHR | c.388A>C (p.Thr130Pro) c.322A>C (p.Thr108Pro) c.258A>C (p.Ter86Tyr) c.409A>C (p.Thr137Pro) c.343A>C (p.Thr115Pro) | |
| 5 | g.42695038A>G | CA359695260 | GHR | c.388A>G (p.Thr130Ala) c.322A>G (p.Thr108Ala) c.258A>G (p.Ter86=) c.409A>G (p.Thr137Ala) c.343A>G (p.Thr115Ala) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.42695038A>T | CA359695261 | GHR | c.388A>T (p.Thr130Ser) c.322A>T (p.Thr108Ser) c.258A>T (p.Ter86Tyr) c.409A>T (p.Thr137Ser) c.343A>T (p.Thr115Ser) | |
| 5 | g.42695039C>A | CA359695262 | GHR | c.389C>A (p.Thr130Asn) c.323C>A (p.Thr108Asn) c.*1C>A (n.*1C>A) c.410C>A (p.Thr137Asn) c.344C>A (p.Thr115Asn) | |
| 5 | g.42695039C>G | CA359695263 | GHR | c.389C>G (p.Thr130Ser) c.323C>G (p.Thr108Ser) c.*1C>G (n.*1C>G) c.410C>G (p.Thr137Ser) c.344C>G (p.Thr115Ser) | |
| 5 | g.42695039C>T | CA359695264 | GHR | c.389C>T (p.Thr130Ile) c.323C>T (p.Thr108Ile) c.*1C>T (n.*1C>T) c.410C>T (p.Thr137Ile) c.344C>T (p.Thr115Ile) | |
| 5 | g.42695040T>A | CA443841051 | GHR | c.390T>A (p.Thr130=) c.324T>A (p.Thr108=) c.*2T>A (n.*2T>A) c.411T>A (p.Thr137=) c.345T>A (p.Thr115=) | |
| 5 | g.42695040T>C | CA443841049 | GHR | c.390T>C (p.Thr130=) c.324T>C (p.Thr108=) c.*2T>C (n.*2T>C) c.411T>C (p.Thr137=) c.345T>C (p.Thr115=) | |
| 5 | g.42695040T>G | CA3254387 | GHR | c.390T>G (p.Thr130=) c.324T>G (p.Thr108=) c.*2T>G (n.*2T>G) c.411T>G (p.Thr137=) c.345T>G (p.Thr115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42695040T= | CA1542287998 | GHR | c.390T= (p.Thr130=) c.324T= (p.Thr108=) c.*2T= (n.*2T=) c.411T= (p.Thr137=) c.345T= (p.Thr115=) | |
| 5 | g.42695041A>C | CA359695265 | GHR | c.391A>C (p.Ser131Arg) c.325A>C (p.Ser109Arg) c.*3A>C (n.*3A>C) c.412A>C (p.Ser138Arg) c.346A>C (p.Ser116Arg) | |
| 5 | g.42695041A>G | CA359695266 | GHR | c.391A>G (p.Ser131Gly) c.325A>G (p.Ser109Gly) c.*3A>G (n.*3A>G) c.412A>G (p.Ser138Gly) c.346A>G (p.Ser116Gly) | |
| 5 | g.42695041A>T | CA359695267 | GHR | c.391A>T (p.Ser131Cys) c.325A>T (p.Ser109Cys) c.*3A>T (n.*3A>T) c.412A>T (p.Ser138Cys) c.346A>T (p.Ser116Cys) | |
| 5 | g.42695042G>A | CA359695268 | GHR | c.392G>A (p.Ser131Asn) c.326G>A (p.Ser109Asn) c.*4G>A (n.*4G>A) c.413G>A (p.Ser138Asn) c.347G>A (p.Ser116Asn) | ClinVar gnomAD v4 |
| 5 | g.42695042G>C | CA359695269 | GHR | c.392G>C (p.Ser131Thr) c.326G>C (p.Ser109Thr) c.*4G>C (n.*4G>C) c.413G>C (p.Ser138Thr) c.347G>C (p.Ser116Thr) | |
| 5 | g.42695042G>T | CA359695270 | GHR | c.392G>T (p.Ser131Ile) c.326G>T (p.Ser109Ile) c.*4G>T (n.*4G>T) c.413G>T (p.Ser138Ile) c.347G>T (p.Ser116Ile) | |
| 5 | g.42695043C>A | CA359695271 | GHR | c.393C>A (p.Ser131Arg) c.327C>A (p.Ser109Arg) c.*5C>A (n.*5C>A) c.414C>A (p.Ser138Arg) c.348C>A (p.Ser116Arg) | gnomAD v4 |
| 5 | g.42695043C= | CA1542288004 | GHR | c.393C= (p.Ser131=) c.327C= (p.Ser109=) c.*5C= (n.*5C=) c.414C= (p.Ser138=) c.348C= (p.Ser116=) | |
| 5 | g.42695043C>G | CA359695272 | GHR | c.393C>G (p.Ser131Arg) c.327C>G (p.Ser109Arg) c.*5C>G (n.*5C>G) c.414C>G (p.Ser138Arg) c.348C>G (p.Ser116Arg) | |
| 5 | g.42695043C>T | CA3254388 | GHR | c.393C>T (p.Ser131=) c.327C>T (p.Ser109=) c.*5C>T (n.*5C>T) c.414C>T (p.Ser138=) c.348C>T (p.Ser116=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42695044A= | CA1542288008 | GHR | c.394A= (p.Asn132=) c.328A= (p.Asn110=) c.*6A= (n.*6A=) c.415A= (p.Asn139=) c.349A= (p.Asn117=) | |
| 5 | g.42695044A>C | CA359695273 | GHR | c.394A>C (p.Asn132His) c.328A>C (p.Asn110His) c.*6A>C (n.*6A>C) c.415A>C (p.Asn139His) c.349A>C (p.Asn117His) | dbSNP |
| 5 | g.42695044A>G | CA359695274 | GHR | c.394A>G (p.Asn132Asp) c.328A>G (p.Asn110Asp) c.*6A>G (n.*6A>G) c.415A>G (p.Asn139Asp) c.349A>G (p.Asn117Asp) | |
| 5 | g.42695044A>T | CA359695275 | GHR | c.394A>T (p.Asn132Tyr) c.328A>T (p.Asn110Tyr) c.*6A>T (n.*6A>T) c.415A>T (p.Asn139Tyr) c.349A>T (p.Asn117Tyr) | |
| 5 | g.42695045A= | CA1542288011 | GHR | c.395A= (p.Asn132=) c.329A= (p.Asn110=) c.*7A= (n.*7A=) c.416A= (p.Asn139=) c.350A= (p.Asn117=) | |
| 5 | g.42695045A>C | CA359695276 | GHR | c.395A>C (p.Asn132Thr) c.329A>C (p.Asn110Thr) c.*7A>C (n.*7A>C) c.416A>C (p.Asn139Thr) c.350A>C (p.Asn117Thr) | |
| 5 | g.42695045A>G | CA359695277 | GHR | c.395A>G (p.Asn132Ser) c.329A>G (p.Asn110Ser) c.*7A>G (n.*7A>G) c.416A>G (p.Asn139Ser) c.350A>G (p.Asn117Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42695045A>T | CA359695278 | GHR | c.395A>T (p.Asn132Ile) c.329A>T (p.Asn110Ile) c.*7A>T (n.*7A>T) c.416A>T (p.Asn139Ile) c.350A>T (p.Asn117Ile) | |
| 5 | g.42695046T>A | CA359695279 | GHR | c.396T>A (p.Asn132Lys) c.330T>A (p.Asn110Lys) c.*8T>A (n.*8T>A) c.417T>A (p.Asn139Lys) c.351T>A (p.Asn117Lys) | |
| 5 | g.42695046T>C | CA443841080 | GHR | c.396T>C (p.Asn132=) c.330T>C (p.Asn110=) c.*8T>C (n.*8T>C) c.417T>C (p.Asn139=) c.351T>C (p.Asn117=) | |
| 5 | g.42695046T>G | CA359695280 | GHR | c.396T>G (p.Asn132Lys) c.330T>G (p.Asn110Lys) c.*8T>G (n.*8T>G) c.417T>G (p.Asn139Lys) c.351T>G (p.Asn117Lys) | |
| 5 | g.42695047G>A | CA359695281 | GHR | c.397G>A (p.Gly133Ser) c.331G>A (p.Gly111Ser) c.*9G>A (n.*9G>A) c.418G>A (p.Gly140Ser) c.352G>A (p.Gly118Ser) | gnomAD v4 COSMIC |
| 5 | g.42695047G>C | CA359695282 | GHR | c.397G>C (p.Gly133Arg) c.331G>C (p.Gly111Arg) c.*9G>C (n.*9G>C) c.418G>C (p.Gly140Arg) c.352G>C (p.Gly118Arg) | |
| 5 | g.42695047G>T | CA359695283 | GHR | c.397G>T (p.Gly133Cys) c.331G>T (p.Gly111Cys) c.*9G>T (n.*9G>T) c.418G>T (p.Gly140Cys) c.352G>T (p.Gly118Cys) | |
| 5 | g.42695048G>A | CA359695286 | GHR | c.398G>A (p.Gly133Asp) c.332G>A (p.Gly111Asp) c.*10G>A (n.*10G>A) c.419G>A (p.Gly140Asp) c.353G>A (p.Gly118Asp) | gnomAD v4 |
| 5 | g.42695048G>C | CA359695285 | GHR | c.398G>C (p.Gly133Ala) c.332G>C (p.Gly111Ala) c.*10G>C (n.*10G>C) c.419G>C (p.Gly140Ala) c.353G>C (p.Gly118Ala) | |
| 5 | g.42695048G>T | CA359695284 | GHR | c.398G>T (p.Gly133Val) c.332G>T (p.Gly111Val) c.*10G>T (n.*10G>T) c.419G>T (p.Gly140Val) c.353G>T (p.Gly118Val) | |
| 5 | g.42695049T>A | CA443841097 | GHR | c.399T>A (p.Gly133=) c.333T>A (p.Gly111=) c.*11T>A (n.*11T>A) c.420T>A (p.Gly140=) c.354T>A (p.Gly118=) | |
| 5 | g.42695049T>C | CA443841099 | GHR | c.399T>C (p.Gly133=) c.333T>C (p.Gly111=) c.*11T>C (n.*11T>C) c.420T>C (p.Gly140=) c.354T>C (p.Gly118=) | dbSNP gnomAD v4 |
| 5 | g.42695049T>G | CA443841101 | GHR | c.399T>G (p.Gly133=) c.333T>G (p.Gly111=) c.*11T>G (n.*11T>G) c.420T>G (p.Gly140=) c.354T>G (p.Gly118=) | |
| 5 | g.42695049T= | CA1542288013 | GHR | c.399T= (p.Gly133=) c.333T= (p.Gly111=) c.*11T= (n.*11T=) c.420T= (p.Gly140=) c.354T= (p.Gly118=) | |
| 5 | g.42695050G>A | CA359695287 | GHR | c.400G>A (p.Gly134Ser) c.334G>A (p.Gly112Ser) c.*12G>A (n.*12G>A) c.421G>A (p.Gly141Ser) c.355G>A (p.Gly119Ser) | gnomAD v4 |
| 5 | g.42695050G>C | CA359695288 | GHR | c.400G>C (p.Gly134Arg) c.334G>C (p.Gly112Arg) c.*12G>C (n.*12G>C) c.421G>C (p.Gly141Arg) c.355G>C (p.Gly119Arg) | |
| 5 | g.42695050G>T | CA359695289 | GHR | c.400G>T (p.Gly134Cys) c.334G>T (p.Gly112Cys) c.*12G>T (n.*12G>T) c.421G>T (p.Gly141Cys) c.355G>T (p.Gly119Cys) | |
| 5 | g.42695051G>A | CA3254389 | GHR | c.401G>A (p.Gly134Asp) c.335G>A (p.Gly112Asp) c.*13G>A (n.*13G>A) c.422G>A (p.Gly141Asp) c.356G>A (p.Gly119Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42695051G>C | CA359695290 | GHR | c.401G>C (p.Gly134Ala) c.335G>C (p.Gly112Ala) c.*13G>C (n.*13G>C) c.422G>C (p.Gly141Ala) c.356G>C (p.Gly119Ala) | |
| 5 | g.42695051G= | CA1542288028 | GHR | c.401G= (p.Gly134=) c.335G= (p.Gly112=) c.*13G= (n.*13G=) c.422G= (p.Gly141=) c.356G= (p.Gly119=) | |
| 5 | g.42695051G>T | CA359695291 | GHR | c.401G>T (p.Gly134Val) c.335G>T (p.Gly112Val) c.*13G>T (n.*13G>T) c.422G>T (p.Gly141Val) c.356G>T (p.Gly119Val) | gnomAD v4 |
| 5 | g.42695052T>A | CA443841116 | GHR | c.402T>A (p.Gly134=) c.336T>A (p.Gly112=) c.*14T>A (n.*14T>A) c.423T>A (p.Gly141=) c.357T>A (p.Gly119=) | |
| 5 | g.42695052T>C | CA443841118 | GHR | c.402T>C (p.Gly134=) c.336T>C (p.Gly112=) c.*14T>C (n.*14T>C) c.423T>C (p.Gly141=) c.357T>C (p.Gly119=) | |
| 5 | g.42695052T>G | CA443841121 | GHR | c.402T>G (p.Gly134=) c.336T>G (p.Gly112=) c.*14T>G (n.*14T>G) c.423T>G (p.Gly141=) c.357T>G (p.Gly119=) | |
| 5 | g.42695053A>C | CA359695292 | GHR | c.403A>C (p.Thr135Pro) c.337A>C (p.Thr113Pro) c.*15A>C (n.*15A>C) c.424A>C (p.Thr142Pro) c.358A>C (p.Thr120Pro) | |
| 5 | g.42695053A>G | CA359695293 | GHR | c.403A>G (p.Thr135Ala) c.337A>G (p.Thr113Ala) c.*15A>G (n.*15A>G) c.424A>G (p.Thr142Ala) c.358A>G (p.Thr120Ala) | |
| 5 | g.42695053A>T | CA359695294 | GHR | c.403A>T (p.Thr135Ser) c.337A>T (p.Thr113Ser) c.*15A>T (n.*15A>T) c.424A>T (p.Thr142Ser) c.358A>T (p.Thr120Ser) | |
| 5 | g.42695054C>A | CA359695295 | GHR | c.404C>A (p.Thr135Lys) c.338C>A (p.Thr113Lys) c.*16C>A (n.*16C>A) c.425C>A (p.Thr142Lys) c.359C>A (p.Thr120Lys) | gnomAD v4 |
| 5 | g.42695054C= | CA1542288035 | GHR | c.404C= (p.Thr135=) c.338C= (p.Thr113=) c.*16C= (n.*16C=) c.425C= (p.Thr142=) c.359C= (p.Thr120=) | |
| 5 | g.42695054C>G | CA359695296 | GHR | c.404C>G (p.Thr135Arg) c.338C>G (p.Thr113Arg) c.*16C>G (n.*16C>G) c.425C>G (p.Thr142Arg) c.359C>G (p.Thr120Arg) | |
| 5 | g.42695054C>T | CA359695297 | GHR | c.404C>T (p.Thr135Ile) c.338C>T (p.Thr113Ile) c.*16C>T (n.*16C>T) c.425C>T (p.Thr142Ile) c.359C>T (p.Thr120Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42695055A= | CA1542288037 | GHR | c.405A= (p.Thr135=) c.339A= (p.Thr113=) c.*17A= (n.*17A=) c.426A= (p.Thr142=) c.360A= (p.Thr120=) | |
| 5 | g.42695055A>C | CA443841134 | GHR | c.405A>C (p.Thr135=) c.339A>C (p.Thr113=) c.*17A>C (n.*17A>C) c.426A>C (p.Thr142=) c.360A>C (p.Thr120=) | |
| 5 | g.42695055A>G | CA443841137 | GHR | c.405A>G (p.Thr135=) c.339A>G (p.Thr113=) c.*17A>G (n.*17A>G) c.426A>G (p.Thr142=) c.360A>G (p.Thr120=) | gnomAD v4 |
| 5 | g.42695055A>T | CA118047680 | GHR | c.405A>T (p.Thr135=) c.339A>T (p.Thr113=) c.*17A>T (n.*17A>T) c.426A>T (p.Thr142=) c.360A>T (p.Thr120=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42695056G>A | CA3254391 | GHR | c.406G>A (p.Val136Met) c.340G>A (p.Val114Met) c.*18G>A (n.*18G>A) c.427G>A (p.Val143Met) c.361G>A (p.Val121Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.42695056G>C | CA359695298 | GHR | c.406G>C (p.Val136Leu) c.340G>C (p.Val114Leu) c.*18G>C (n.*18G>C) c.427G>C (p.Val143Leu) c.361G>C (p.Val121Leu) | |
| 5 | g.42695056G= | CA1542288041 | GHR | c.406G= (p.Val136=) c.340G= (p.Val114=) c.*18G= (n.*18G=) c.427G= (p.Val143=) c.361G= (p.Val121=) | |
| 5 | g.42695056G>T | CA3254390 | GHR | c.406G>T (p.Val136Leu) c.340G>T (p.Val114Leu) c.*18G>T (n.*18G>T) c.427G>T (p.Val143Leu) c.361G>T (p.Val121Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.42695057T>A | CA359695300 | GHR | c.407T>A (p.Val136Glu) c.341T>A (p.Val114Glu) c.*19T>A (n.*19T>A) c.428T>A (p.Val143Glu) c.362T>A (p.Val121Glu) | |
| 5 | g.42695057T>C | CA359695299 | GHR | c.407T>C (p.Val136Ala) c.341T>C (p.Val114Ala) c.*19T>C (n.*19T>C) c.428T>C (p.Val143Ala) c.362T>C (p.Val121Ala) | |
| 5 | g.42695057T>G | CA359695301 | GHR | c.407T>G (p.Val136Gly) c.341T>G (p.Val114Gly) c.*19T>G (n.*19T>G) c.428T>G (p.Val143Gly) c.362T>G (p.Val121Gly) | dbSNP |
| 5 | g.42695057T= | CA1542288050 | GHR | c.407T= (p.Val136=) c.341T= (p.Val114=) c.*19T= (n.*19T=) c.428T= (p.Val143=) c.362T= (p.Val121=) | |
| 5 | g.42695058G>A | CA443841154 | GHR | c.408G>A (p.Val136=) c.342G>A (p.Val114=) c.*20G>A (n.*20G>A) c.429G>A (p.Val143=) c.363G>A (p.Val121=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.42695058G>C | CA443841157 | GHR | c.408G>C (p.Val136=) c.342G>C (p.Val114=) c.*20G>C (n.*20G>C) c.429G>C (p.Val143=) c.363G>C (p.Val121=) | |
| 5 | g.42695058G= | CA1542288058 | GHR | c.408G= (p.Val136=) c.342G= (p.Val114=) c.*20G= (n.*20G=) c.429G= (p.Val143=) c.363G= (p.Val121=) | |
| 5 | g.42695058G>T | CA443841159 | GHR | c.408G>T (p.Val136=) c.342G>T (p.Val114=) c.*20G>T (n.*20G>T) c.429G>T (p.Val143=) c.363G>T (p.Val121=) | |
| 5 | g.42695059G>A | CA359695302 | GHR | c.409G>A (p.Asp137Asn) c.343G>A (p.Asp115Asn) c.*21G>A (n.*21G>A) c.430G>A (p.Asp144Asn) c.364G>A (p.Asp122Asn) | dbSNP gnomAD v4 |
| 5 | g.42695059G>C | CA3254392 | GHR | c.409G>C (p.Asp137His) c.343G>C (p.Asp115His) c.*21G>C (n.*21G>C) c.430G>C (p.Asp144His) c.364G>C (p.Asp122His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42695059G= | CA1542288061 | GHR | c.409G= (p.Asp137=) c.343G= (p.Asp115=) c.*21G= (n.*21G=) c.430G= (p.Asp144=) c.364G= (p.Asp122=) | |
| 5 | g.42695059G>T | CA359695303 | GHR | c.409G>T (p.Asp137Tyr) c.343G>T (p.Asp115Tyr) c.*21G>T (n.*21G>T) c.430G>T (p.Asp144Tyr) c.364G>T (p.Asp122Tyr) | |
| 5 | g.42695060A>C | CA359695304 | GHR | c.410A>C (p.Asp137Ala) c.344A>C (p.Asp115Ala) c.*22A>C (n.*22A>C) c.431A>C (p.Asp144Ala) c.365A>C (p.Asp122Ala) | |
| 5 | g.42695060A>G | CA359695305 | GHR | c.410A>G (p.Asp137Gly) c.344A>G (p.Asp115Gly) c.*22A>G (n.*22A>G) c.431A>G (p.Asp144Gly) c.365A>G (p.Asp122Gly) | |
| 5 | g.42695060A>T | CA359695306 | GHR | c.410A>T (p.Asp137Val) c.344A>T (p.Asp115Val) c.*22A>T (n.*22A>T) c.431A>T (p.Asp144Val) c.365A>T (p.Asp122Val) | |
| 5 | g.42695061T>A | CA3254393 | GHR | c.411T>A (p.Asp137Glu) c.345T>A (p.Asp115Glu) c.*23T>A (n.*23T>A) c.432T>A (p.Asp144Glu) c.366T>A (p.Asp122Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42695061T>C | CA443841176 | GHR | c.411T>C (p.Asp137=) c.345T>C (p.Asp115=) c.*23T>C (n.*23T>C) c.432T>C (p.Asp144=) c.366T>C (p.Asp122=) | gnomAD v4 |
| 5 | g.42695061T>G | CA359695307 | GHR | c.411T>G (p.Asp137Glu) c.345T>G (p.Asp115Glu) c.*23T>G (n.*23T>G) c.432T>G (p.Asp144Glu) c.366T>G (p.Asp122Glu) | gnomAD v4 |
| 5 | g.42695061T= | CA1542288063 | GHR | c.411T= (p.Asp137=) c.345T= (p.Asp115=) c.*23T= (n.*23T=) c.432T= (p.Asp144=) c.366T= (p.Asp122=) | |
| 5 | g.42695062G>A | CA359695308 | GHR | c.412G>A (p.Glu138Lys) c.346G>A (p.Glu116Lys) c.*24G>A (n.*24G>A) c.433G>A (p.Glu145Lys) c.367G>A (p.Glu123Lys) | gnomAD v4 COSMIC |
| 5 | g.42695062G>C | CA359695309 | GHR | c.412G>C (p.Glu138Gln) c.346G>C (p.Glu116Gln) c.*24G>C (n.*24G>C) c.433G>C (p.Glu145Gln) c.367G>C (p.Glu123Gln) | |
| 5 | g.42695062G>T | CA359695310 | GHR | c.412G>T (p.Glu138Ter) c.346G>T (p.Glu116Ter) c.*24G>T (n.*24G>T) c.433G>T (p.Glu145Ter) c.367G>T (p.Glu123Ter) | |
| 5 | g.42695063A>C | CA359695313 | GHR | c.413A>C (p.Glu138Ala) c.347A>C (p.Glu116Ala) c.*25A>C (n.*25A>C) c.434A>C (p.Glu145Ala) c.368A>C (p.Glu123Ala) | |
| 5 | g.42695063A>G | CA359695312 | GHR | c.413A>G (p.Glu138Gly) c.347A>G (p.Glu116Gly) c.*25A>G (n.*25A>G) c.434A>G (p.Glu145Gly) c.368A>G (p.Glu123Gly) | |
| 5 | g.42695063A>T | CA359695311 | GHR | c.413A>T (p.Glu138Val) c.347A>T (p.Glu116Val) c.*25A>T (n.*25A>T) c.434A>T (p.Glu145Val) c.368A>T (p.Glu123Val) | |
| 5 | g.42695064A>C | CA359695314 | GHR | c.414A>C (p.Glu138Asp) c.348A>C (p.Glu116Asp) c.*26A>C (n.*26A>C) c.435A>C (p.Glu145Asp) c.369A>C (p.Glu123Asp) | |
| 5 | g.42695064A>G | CA443841194 | GHR | c.414A>G (p.Glu138=) c.348A>G (p.Glu116=) c.*26A>G (n.*26A>G) c.435A>G (p.Glu145=) c.369A>G (p.Glu123=) | |
| 5 | g.42695064A>T | CA359695315 | GHR | c.414A>T (p.Glu138Asp) c.348A>T (p.Glu116Asp) c.*26A>T (n.*26A>T) c.435A>T (p.Glu145Asp) c.369A>T (p.Glu123Asp) | |
| 5 | g.42695065A>C | CA359695316 | GHR | c.415A>C (p.Lys139Gln) c.349A>C (p.Lys117Gln) c.*27A>C (n.*27A>C) c.436A>C (p.Lys146Gln) c.370A>C (p.Lys124Gln) | |
| 5 | g.42695065A>G | CA359695317 | GHR | c.415A>G (p.Lys139Glu) c.349A>G (p.Lys117Glu) c.*27A>G (n.*27A>G) c.436A>G (p.Lys146Glu) c.370A>G (p.Lys124Glu) | |
| 5 | g.42695065A>T | CA359695318 | GHR | c.415A>T (p.Lys139Ter) c.349A>T (p.Lys117Ter) c.*27A>T (n.*27A>T) c.436A>T (p.Lys146Ter) c.370A>T (p.Lys124Ter) | |
| 5 | g.42695066A>C | CA359695319 | GHR | c.416A>C (p.Lys139Thr) c.350A>C (p.Lys117Thr) c.*28A>C (n.*28A>C) c.437A>C (p.Lys146Thr) c.371A>C (p.Lys124Thr) | |
| 5 | g.42695066A>G | CA359695320 | GHR | c.416A>G (p.Lys139Arg) c.350A>G (p.Lys117Arg) c.*28A>G (n.*28A>G) c.437A>G (p.Lys146Arg) c.371A>G (p.Lys124Arg) | gnomAD v4 |
| 5 | g.42695066A>T | CA359695321 | GHR | c.416A>T (p.Lys139Met) c.350A>T (p.Lys117Met) c.*28A>T (n.*28A>T) c.437A>T (p.Lys146Met) c.371A>T (p.Lys124Met) | |
| 5 | g.42695067G>A | CA443841205 | GHR | c.417G>A (p.Lys139=) c.351G>A (p.Lys117=) c.*29G>A (n.*29G>A) c.438G>A (p.Lys146=) c.372G>A (p.Lys124=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42695067G>C | CA359695322 | GHR | c.417G>C (p.Lys139Asn) c.351G>C (p.Lys117Asn) c.*29G>C (n.*29G>C) c.438G>C (p.Lys146Asn) c.372G>C (p.Lys124Asn) | |
| 5 | g.42695067G= | CA1542288066 | GHR | c.417G= (p.Lys139=) c.351G= (p.Lys117=) c.*29G= (n.*29G=) c.438G= (p.Lys146=) c.372G= (p.Lys124=) | |
| 5 | g.42695067G>T | CA359695323 | GHR | c.417G>T (p.Lys139Asn) c.351G>T (p.Lys117Asn) c.*29G>T (n.*29G>T) c.438G>T (p.Lys146Asn) c.372G>T (p.Lys124Asn) | gnomAD v4 |
| 5 | g.42695068T>A | CA359695324 | GHR | c.418T>A (p.Cys140Ser) c.352T>A (p.Cys118Ser) c.*30T>A (n.*30T>A) c.439T>A (p.Cys147Ser) c.373T>A (p.Cys125Ser) | |
| 5 | g.42695068T>C | CA359695325 | GHR | c.418T>C (p.Cys140Arg) c.352T>C (p.Cys118Arg) c.*30T>C (n.*30T>C) c.439T>C (p.Cys147Arg) c.373T>C (p.Cys125Arg) | |
| 5 | g.42695068T>G | CA359695326 | GHR | c.418T>G (p.Cys140Gly) c.352T>G (p.Cys118Gly) c.*30T>G (n.*30T>G) c.439T>G (p.Cys147Gly) c.373T>G (p.Cys125Gly) | |
| 5 | g.42695069G>A | CA359695329 | GHR | c.419G>A (p.Cys140Tyr) c.353G>A (p.Cys118Tyr) c.*31G>A (n.*31G>A) c.440G>A (p.Cys147Tyr) c.374G>A (p.Cys125Tyr) | |
| 5 | g.42695069G>C | CA359695328 | GHR | c.419G>C (p.Cys140Ser) c.353G>C (p.Cys118Ser) c.*31G>C (n.*31G>C) c.440G>C (p.Cys147Ser) c.374G>C (p.Cys125Ser) | |
| 5 | g.42695069G>T | CA359695327 | GHR | c.419G>T (p.Cys140Phe) c.353G>T (p.Cys118Phe) c.*31G>T (n.*31G>T) c.440G>T (p.Cys147Phe) c.374G>T (p.Cys125Phe) | |
| 5 | g.42695070T>A | CA359695331 | GHR | c.420T>A (p.Cys140Ter) c.354T>A (p.Cys118Ter) c.*32T>A (n.*32T>A) c.441T>A (p.Cys147Ter) c.375T>A (p.Cys125Ter) | |
| 5 | g.42695070T>C | CA443841223 | GHR | c.420T>C (p.Cys140=) c.354T>C (p.Cys118=) c.*32T>C (n.*32T>C) c.441T>C (p.Cys147=) c.375T>C (p.Cys125=) | |
| 5 | g.42695070T>G | CA359695330 | GHR | c.420T>G (p.Cys140Trp) c.354T>G (p.Cys118Trp) c.*32T>G (n.*32T>G) c.441T>G (p.Cys147Trp) c.375T>G (p.Cys125Trp) | |
| 5 | g.42695071_42695072dup | CA2695204446 | GHR | c.421_422dup (p.Val143LeufsTer5) c.355_356dup (p.Val121LeufsTer5) c.*33_*34dup (n.*33_*34dup) c.442_443dup (p.Val150LeufsTer5) c.376_377dup (p.Val128LeufsTer5) | |
| 5 | g.42695071T>A | CA359695332 | GHR | c.421T>A (p.Phe141Ile) c.355T>A (p.Phe119Ile) c.*33T>A (n.*33T>A) c.442T>A (p.Phe148Ile) c.376T>A (p.Phe126Ile) | |
| 5 | g.42695071T>C | CA359695333 | GHR | c.421T>C (p.Phe141Leu) c.355T>C (p.Phe119Leu) c.*33T>C (n.*33T>C) c.442T>C (p.Phe148Leu) c.376T>C (p.Phe126Leu) | gnomAD v4 |
| 5 | g.42695071T>G | CA359695334 | GHR | c.421T>G (p.Phe141Val) c.355T>G (p.Phe119Val) c.*33T>G (n.*33T>G) c.442T>G (p.Phe148Val) c.376T>G (p.Phe126Val) | |
| 5 | g.42695072T>A | CA359695335 | GHR | c.422T>A (p.Phe141Tyr) c.356T>A (p.Phe119Tyr) c.*34T>A (n.*34T>A) c.443T>A (p.Phe148Tyr) c.377T>A (p.Phe126Tyr) | |
| 5 | g.42695072T>C | CA359695336 | GHR | c.422T>C (p.Phe141Ser) c.356T>C (p.Phe119Ser) c.*34T>C (n.*34T>C) c.443T>C (p.Phe148Ser) c.377T>C (p.Phe126Ser) | |
| 5 | g.42695072T>G | CA359695337 | GHR | c.422T>G (p.Phe141Cys) c.356T>G (p.Phe119Cys) c.*34T>G (n.*34T>G) c.443T>G (p.Phe148Cys) c.377T>G (p.Phe126Cys) | |
| 5 | g.42695072_42695117delinsTCTCTGTTGATGAAATAGGTAAATCACAGGTTTTTGTTTCATTTGA | CA1542288070 | GHR | c.422_439+28delinsTCTCTGTTGATGAAATAGGTAAATCACAGGTTTTTGTTTCATTTGA c.356_373+28delinsTCTCTGTTGATGAAATAGGTAAATCACAGGTTTTTGTTTCATTTGA c.*34_*51+28delinsTCTCTGTTGATGAAATAGGTAAATCACAGGTTTTTGTTTCATTTGA c.443_460+28delinsTCTCTGTTGATGAAATAGGTAAATCACAGGTTTTTGTTTCATTTGA c.377_394+28delinsTCTCTGTTGATGAAATAGGTAAATCACAGGTTTTTGTTTCATTTGA | |
| 5 | g.42695073C>A | CA359695338 | GHR | c.423C>A (p.Phe141Leu) c.357C>A (p.Phe119Leu) c.*35C>A (n.*35C>A) c.444C>A (p.Phe148Leu) c.378C>A (p.Phe126Leu) | |
| 5 | g.42695073C>G | CA359695339 | GHR | c.423C>G (p.Phe141Leu) c.357C>G (p.Phe119Leu) c.*35C>G (n.*35C>G) c.444C>G (p.Phe148Leu) c.378C>G (p.Phe126Leu) | |
| 5 | g.42695073C>T | CA443841241 | GHR | c.423C>T (p.Phe141=) c.357C>T (p.Phe119=) c.*35C>T (n.*35C>T) c.444C>T (p.Phe148=) c.378C>T (p.Phe126=) | COSMIC |
| 5 | g.42695074_42695118del | CA118047681 | GHR | c.424_439+29del c.358_373+29del c.*36_*51+29del c.445_460+29del c.379_394+29del | dbSNP |
| 5 | g.42695073_42695119delinsCTCTGTTGATGAAATAGGTAAATCACAGGTTTTTGTTTCATTTGACA | CA1542288076 | GHR | c.423_439+30delinsCTCTGTTGATGAAATAGGTAAATCACAGGTTTTTGTTTCATTTGACA c.357_373+30delinsCTCTGTTGATGAAATAGGTAAATCACAGGTTTTTGTTTCATTTGACA c.*35_*51+30delinsCTCTGTTGATGAAATAGGTAAATCACAGGTTTTTGTTTCATTTGACA c.444_460+30delinsCTCTGTTGATGAAATAGGTAAATCACAGGTTTTTGTTTCATTTGACA c.378_394+30delinsCTCTGTTGATGAAATAGGTAAATCACAGGTTTTTGTTTCATTTGACA | |
| 5 | g.42695074T>A | CA359695340 | GHR | c.424T>A (p.Ser142Thr) c.358T>A (p.Ser120Thr) c.*36T>A (n.*36T>A) c.445T>A (p.Ser149Thr) c.379T>A (p.Ser127Thr) | |
| 5 | g.42695074T>C | CA359695341 | GHR | c.424T>C (p.Ser142Pro) c.358T>C (p.Ser120Pro) c.*36T>C (n.*36T>C) c.445T>C (p.Ser149Pro) c.379T>C (p.Ser127Pro) | gnomAD v4 |
| 5 | g.42695074T>G | CA118047683 | GHR | c.424T>G (p.Ser142Ala) c.358T>G (p.Ser120Ala) c.*36T>G (n.*36T>G) c.445T>G (p.Ser149Ala) c.379T>G (p.Ser127Ala) | dbSNP |
| 5 | g.42695074T= | CA1542288084 | GHR | c.424T= (p.Ser142=) c.358T= (p.Ser120=) c.*36T= (n.*36T=) c.445T= (p.Ser149=) c.379T= (p.Ser127=) | |
| 5 | g.42695076_42695096dup | CA2673723658 | GHR | c.426_439+7dup c.360_373+7dup c.*38_*51+7dup c.447_460+7dup c.381_394+7dup | gnomAD v4 |
| 5 | g.42695074_42695119delinsC | CA118047682 | GHR | c.424_439+30delinsC c.358_373+30delinsC c.*36_*51+30delinsC c.445_460+30delinsC c.379_394+30delinsC | dbSNP |
| 5 | g.42695075C>A | CA359695342 | GHR | c.425C>A (p.Ser142Tyr) c.359C>A (p.Ser120Tyr) c.*37C>A (n.*37C>A) c.446C>A (p.Ser149Tyr) c.380C>A (p.Ser127Tyr) | gnomAD v4 |
| 5 | g.42695075C= | CA1542288088 | GHR | c.425C= (p.Ser142=) c.359C= (p.Ser120=) c.*37C= (n.*37C=) c.446C= (p.Ser149=) c.380C= (p.Ser127=) | |
| 5 | g.42695075C>G | CA359695343 | GHR | c.425C>G (p.Ser142Cys) c.359C>G (p.Ser120Cys) c.*37C>G (n.*37C>G) c.446C>G (p.Ser149Cys) c.380C>G (p.Ser127Cys) | |
| 5 | g.42695075C>T | CA118047684 | GHR | c.425C>T (p.Ser142Phe) c.359C>T (p.Ser120Phe) c.*37C>T (n.*37C>T) c.446C>T (p.Ser149Phe) c.380C>T (p.Ser127Phe) | dbSNP gnomAD v4 COSMIC |
| 5 | g.42695076T>A | CA443841253 | GHR | c.426T>A (p.Ser142=) c.360T>A (p.Ser120=) c.*38T>A (n.*38T>A) c.447T>A (p.Ser149=) c.381T>A (p.Ser127=) | |
| 5 | g.42695076T>C | CA443841255 | GHR | c.426T>C (p.Ser142=) c.360T>C (p.Ser120=) c.*38T>C (n.*38T>C) c.447T>C (p.Ser149=) c.381T>C (p.Ser127=) | |
| 5 | g.42695076T>G | CA443841258 | GHR | c.426T>G (p.Ser142=) c.360T>G (p.Ser120=) c.*38T>G (n.*38T>G) c.447T>G (p.Ser149=) c.381T>G (p.Ser127=) | |
| 5 | g.42695077G>A | CA3254394 | GHR | c.427G>A (p.Val143Ile) c.361G>A (p.Val121Ile) c.*39G>A (n.*39G>A) c.448G>A (p.Val150Ile) c.382G>A (p.Val128Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42695077G>C | CA359695344 | GHR | c.427G>C (p.Val143Leu) c.361G>C (p.Val121Leu) c.*39G>C (n.*39G>C) c.448G>C (p.Val150Leu) c.382G>C (p.Val128Leu) | |
| 5 | g.42695077G= | CA1542288093 | GHR | c.427G= (p.Val143=) c.361G= (p.Val121=) c.*39G= (n.*39G=) c.448G= (p.Val150=) c.382G= (p.Val128=) | |
| 5 | g.42695077G>T | CA359695345 | GHR | c.427G>T (p.Val143Phe) c.361G>T (p.Val121Phe) c.*39G>T (n.*39G>T) c.448G>T (p.Val150Phe) c.382G>T (p.Val128Phe) | COSMIC |
| 5 | g.42695078T>A | CA359695346 | GHR | c.428T>A (p.Val143Asp) c.362T>A (p.Val121Asp) c.*40T>A (n.*40T>A) c.449T>A (p.Val150Asp) c.383T>A (p.Val128Asp) | |
| 5 | g.42695078T>C | CA359695347 | GHR | c.428T>C (p.Val143Ala) c.362T>C (p.Val121Ala) c.*40T>C (n.*40T>C) c.449T>C (p.Val150Ala) c.383T>C (p.Val128Ala) | gnomAD v4 |
| 5 | g.42695078T>G | CA359695348 | GHR | c.428T>G (p.Val143Gly) c.362T>G (p.Val121Gly) c.*40T>G (n.*40T>G) c.449T>G (p.Val150Gly) c.383T>G (p.Val128Gly) | |
| 5 | g.42695079T>A | CA443841273 | GHR | c.429T>A (p.Val143=) c.363T>A (p.Val121=) c.*41T>A (n.*41T>A) c.450T>A (p.Val150=) c.384T>A (p.Val128=) | |
| 5 | g.42695079T>C | CA443841275 | GHR | c.429T>C (p.Val143=) c.363T>C (p.Val121=) c.*41T>C (n.*41T>C) c.450T>C (p.Val150=) c.384T>C (p.Val128=) | gnomAD v4 |
| 5 | g.42695079T>G | CA443841277 | GHR | c.429T>G (p.Val143=) c.363T>G (p.Val121=) c.*41T>G (n.*41T>G) c.450T>G (p.Val150=) c.384T>G (p.Val128=) | |
| 5 | g.42695080G>A | CA118047685 | GHR | c.430G>A (p.Asp144Asn) c.364G>A (p.Asp122Asn) c.*42G>A (n.*42G>A) c.451G>A (p.Asp151Asn) c.385G>A (p.Asp129Asn) | dbSNP gnomAD v4 COSMIC |
| 5 | g.42695080G>C | CA359695349 | GHR | c.430G>C (p.Asp144His) c.364G>C (p.Asp122His) c.*42G>C (n.*42G>C) c.451G>C (p.Asp151His) c.385G>C (p.Asp129His) | |
| 5 | g.42695080G= | CA1542288096 | GHR | c.430G= (p.Asp144=) c.364G= (p.Asp122=) c.*42G= (n.*42G=) c.451G= (p.Asp151=) c.385G= (p.Asp129=) | |
| 5 | g.42695080G>T | CA118047686 | GHR | c.430G>T (p.Asp144Tyr) c.364G>T (p.Asp122Tyr) c.*42G>T (n.*42G>T) c.451G>T (p.Asp151Tyr) c.385G>T (p.Asp129Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42695081A= | CA1542288107 | GHR | c.431A= (p.Asp144=) c.365A= (p.Asp122=) c.*43A= (n.*43A=) c.452A= (p.Asp151=) c.386A= (p.Asp129=) | |
| 5 | g.42695081A>C | CA359695350 | GHR | c.431A>C (p.Asp144Ala) c.365A>C (p.Asp122Ala) c.*43A>C (n.*43A>C) c.452A>C (p.Asp151Ala) c.386A>C (p.Asp129Ala) | |
| 5 | g.42695081A>G | CA359695351 | GHR | c.431A>G (p.Asp144Gly) c.365A>G (p.Asp122Gly) c.*43A>G (n.*43A>G) c.452A>G (p.Asp151Gly) c.386A>G (p.Asp129Gly) | |
| 5 | g.42695081A>T | CA3254395 | GHR | c.431A>T (p.Asp144Val) c.365A>T (p.Asp122Val) c.*43A>T (n.*43A>T) c.452A>T (p.Asp151Val) c.386A>T (p.Asp129Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42695082T>A | CA359695352 | GHR | c.432T>A (p.Asp144Glu) c.366T>A (p.Asp122Glu) c.*44T>A (n.*44T>A) c.453T>A (p.Asp151Glu) c.387T>A (p.Asp129Glu) | gnomAD v4 |
| 5 | g.42695082T>C | CA443841284 | GHR | c.432T>C (p.Asp144=) c.366T>C (p.Asp122=) c.*44T>C (n.*44T>C) c.453T>C (p.Asp151=) c.387T>C (p.Asp129=) | |
| 5 | g.42695082T>G | CA359695353 | GHR | c.432T>G (p.Asp144Glu) c.366T>G (p.Asp122Glu) c.*44T>G (n.*44T>G) c.453T>G (p.Asp151Glu) c.387T>G (p.Asp129Glu) | |
| 5 | g.42695083G>A | CA359695355 | GHR | c.433G>A (p.Glu145Lys) c.367G>A (p.Glu123Lys) c.*45G>A (n.*45G>A) c.454G>A (p.Glu152Lys) c.388G>A (p.Glu130Lys) | dbSNP |
| 5 | g.42695083G>C | CA359695356 | GHR | c.433G>C (p.Glu145Gln) c.367G>C (p.Glu123Gln) c.*45G>C (n.*45G>C) c.454G>C (p.Glu152Gln) c.388G>C (p.Glu130Gln) | |
| 5 | g.42695083G= | CA1542288108 | GHR | c.433G= (p.Glu145=) c.367G= (p.Glu123=) c.*45G= (n.*45G=) c.454G= (p.Glu152=) c.388G= (p.Glu130=) | |
| 5 | g.42695083G>T | CA359695354 | GHR | c.433G>T (p.Glu145Ter) c.367G>T (p.Glu123Ter) c.*45G>T (n.*45G>T) c.454G>T (p.Glu152Ter) c.388G>T (p.Glu130Ter) | gnomAD v4 |
| 5 | g.42695084A>C | CA359695357 | GHR | c.434A>C (p.Glu145Ala) c.368A>C (p.Glu123Ala) c.*46A>C (n.*46A>C) c.455A>C (p.Glu152Ala) c.389A>C (p.Glu130Ala) | |
| 5 | g.42695084A>G | CA359695359 | GHR | c.434A>G (p.Glu145Gly) c.368A>G (p.Glu123Gly) c.*46A>G (n.*46A>G) c.455A>G (p.Glu152Gly) c.389A>G (p.Glu130Gly) | |
| 5 | g.42695084A>T | CA359695358 | GHR | c.434A>T (p.Glu145Val) c.368A>T (p.Glu123Val) c.*46A>T (n.*46A>T) c.455A>T (p.Glu152Val) c.389A>T (p.Glu130Val) | |
| 5 | g.42695085A= | CA1542288112 | GHR | c.435A= (p.Glu145=) c.369A= (p.Glu123=) c.*47A= (n.*47A=) c.456A= (p.Glu152=) c.390A= (p.Glu130=) | |
| 5 | g.42695085A>C | CA3254396 | GHR | c.435A>C (p.Glu145Asp) c.369A>C (p.Glu123Asp) c.*47A>C (n.*47A>C) c.456A>C (p.Glu152Asp) c.390A>C (p.Glu130Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.42695085A>G | CA443841285 | GHR | c.435A>G (p.Glu145=) c.369A>G (p.Glu123=) c.*47A>G (n.*47A>G) c.456A>G (p.Glu152=) c.390A>G (p.Glu130=) | |
| 5 | g.42695085A>T | CA359695360 | GHR | c.435A>T (p.Glu145Asp) c.369A>T (p.Glu123Asp) c.*47A>T (n.*47A>T) c.456A>T (p.Glu152Asp) c.390A>T (p.Glu130Asp) | |
| 5 | g.42695086A>C | CA359695361 | GHR | c.436A>C (p.Ile146Leu) c.370A>C (p.Ile124Leu) c.*48A>C (n.*48A>C) c.457A>C (p.Ile153Leu) c.391A>C (p.Ile131Leu) | |
| 5 | g.42695086A>G | CA359695362 | GHR | c.436A>G (p.Ile146Val) c.370A>G (p.Ile124Val) c.*48A>G (n.*48A>G) c.457A>G (p.Ile153Val) c.391A>G (p.Ile131Val) | |
| 5 | g.42695086A>T | CA359695363 | GHR | c.436A>T (p.Ile146Leu) c.370A>T (p.Ile124Leu) c.*48A>T (n.*48A>T) c.457A>T (p.Ile153Leu) c.391A>T (p.Ile131Leu) | |
| 5 | g.42695087T>A | CA359695364 | GHR | c.437T>A (p.Ile146Lys) c.371T>A (p.Ile124Lys) c.*49T>A (n.*49T>A) c.458T>A (p.Ile153Lys) c.392T>A (p.Ile131Lys) | |
| 5 | g.42695087T>C | CA359695365 | GHR | c.437T>C (p.Ile146Thr) c.371T>C (p.Ile124Thr) c.*49T>C (n.*49T>C) c.458T>C (p.Ile153Thr) c.392T>C (p.Ile131Thr) | |
| 5 | g.42695087T>G | CA359695366 | GHR | c.437T>G (p.Ile146Arg) c.371T>G (p.Ile124Arg) c.*49T>G (n.*49T>G) c.458T>G (p.Ile153Arg) c.392T>G (p.Ile131Arg) | |
| 5 | g.42695088del | CA2739274694 | GHR | c.438del (p.Ile146MetfsTer15) c.372del (p.Ile124MetfsTer15) c.*50del (n.*50del) c.459del (p.Ile153MetfsTer15) c.393del (p.Ile131MetfsTer15) | ClinVar |
| 5 | g.42695088A>C | CA443841437 | GHR | c.438A>C (p.Ile146=) c.372A>C (p.Ile124=) c.*50A>C (n.*50A>C) c.459A>C (p.Ile153=) c.393A>C (p.Ile131=) | |
| 5 | g.42695088A>G | CA359695367 | GHR | c.438A>G (p.Ile146Met) c.372A>G (p.Ile124Met) c.*50A>G (n.*50A>G) c.459A>G (p.Ile153Met) c.393A>G (p.Ile131Met) | gnomAD v4 |
| 5 | g.42695088A>T | CA443841433 | GHR | c.438A>T (p.Ile146=) c.372A>T (p.Ile124=) c.*50A>T (n.*50A>T) c.459A>T (p.Ile153=) c.393A>T (p.Ile131=) | |
| 5 | g.42695089G>A | CA359695368 | GHR | c.439G>A (p.Val147Met) c.373G>A (p.Val125Met) c.*51G>A (n.*51G>A) c.460G>A (p.Val154Met) c.394G>A (p.Val132Met) | dbSNP |
| 5 | g.42695089G>C | CA359695369 | GHR | c.439G>C (p.Val147Leu) c.373G>C (p.Val125Leu) c.*51G>C (n.*51G>C) c.460G>C (p.Val154Leu) c.394G>C (p.Val132Leu) | |
| 5 | g.42695089G= | CA1542288117 | GHR | c.439G= (p.Val147=) c.373G= (p.Val125=) c.*51G= (n.*51G=) c.460G= (p.Val154=) c.394G= (p.Val132=) | |
| 5 | g.42695089G>T | CA359695370 | GHR | c.439G>T (p.Val147Leu) c.373G>T (p.Val125Leu) c.*51G>T (n.*51G>T) c.460G>T (p.Val154Leu) c.394G>T (p.Val132Leu) | |
| 5 | g.42695090G>A | CA359695373 | GHR | c.439+1G>A (n.439+1G>A) c.373+1G>A (n.373+1G>A) c.*51+1G>A (n.*51+1G>A) c.460+1G>A (n.460+1G>A) c.394+1G>A (n.394+1G>A) | gnomAD v4 |
| 5 | g.42695090G>C | CA359695371 | GHR | c.439+1G>C (n.439+1G>C) c.373+1G>C (n.373+1G>C) c.*51+1G>C (n.*51+1G>C) c.460+1G>C (n.460+1G>C) c.394+1G>C (n.394+1G>C) | |
| 5 | g.42695090G>T | CA359695372 | GHR | c.439+1G>T (n.439+1G>T) c.373+1G>T (n.373+1G>T) c.*51+1G>T (n.*51+1G>T) c.460+1G>T (n.460+1G>T) c.394+1G>T (n.394+1G>T) | |
| 5 | g.42695091del | CA2578302079 | GHR | c.439+2del (n.439+2del) c.373+2del (n.373+2del) c.*51+2del (n.*51+2del) c.460+2del (n.460+2del) c.394+2del (n.394+2del) | |
| 5 | g.42695091T>A | CA359695374 | GHR | c.439+2T>A (n.439+2T>A) c.373+2T>A (n.373+2T>A) c.*51+2T>A (n.*51+2T>A) c.460+2T>A (n.460+2T>A) c.394+2T>A (n.394+2T>A) | |
| 5 | g.42695091T>C | CA359695375 | GHR | c.439+2T>C (n.439+2T>C) c.373+2T>C (n.373+2T>C) c.*51+2T>C (n.*51+2T>C) c.460+2T>C (n.460+2T>C) c.394+2T>C (n.394+2T>C) | |
| 5 | g.42695091T>G | CA359695376 | GHR | c.439+2T>G (n.439+2T>G) c.373+2T>G (n.373+2T>G) c.*51+2T>G (n.*51+2T>G) c.460+2T>G (n.460+2T>G) c.394+2T>G (n.394+2T>G) | |
| 5 | g.42695091_42695092del | CA2578302078 | GHR | c.439+2_439+3del (n.439+2_439+3del) c.373+2_373+3del (n.373+2_373+3del) c.*51+2_*51+3del (n.*51+2_*51+3del) c.460+2_460+3del (n.460+2_460+3del) c.394+2_394+3del (n.394+2_394+3del) | |
| 5 | g.42695093A= | CA1542288122 | GHR | c.439+4A= (n.439+4A=) c.373+4A= (n.373+4A=) c.*51+4A= (n.*51+4A=) c.460+4A= (n.460+4A=) c.394+4A= (n.394+4A=) | |
| 5 | g.42695093A>G | CA118047687 | GHR | c.439+4A>G (n.439+4A>G) c.373+4A>G (n.373+4A>G) c.*51+4A>G (n.*51+4A>G) c.460+4A>G (n.460+4A>G) c.394+4A>G (n.394+4A>G) | dbSNP gnomAD v4 |