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.42693762_42694983del | CA2580073294 | GHR | c.267-1155_333del c.201-1155_267del c.137-1155_203del c.288-1155_354del c.222-1155_288del | ClinVar |
| 5 | g.42694953C>A | CA119815 | GHR | c.303C>A (p.Cys101Ter) c.237C>A (p.Cys79Ter) c.173C>A (p.Ala58Asp) c.324C>A (p.Cys108Ter) c.258C>A (p.Cys86Ter) | ClinVar dbSNP |
| 5 | g.42694953C= | CA1542287772 | GHR | c.303C= (p.Cys101=) c.237C= (p.Cys79=) c.173C= (p.Ala58=) c.324C= (p.Cys108=) c.258C= (p.Cys86=) | |
| 5 | g.42694953C>G | CA359695067 | GHR | c.303C>G (p.Cys101Trp) c.237C>G (p.Cys79Trp) c.173C>G (p.Ala58Gly) c.324C>G (p.Cys108Trp) c.258C>G (p.Cys86Trp) | |
| 5 | g.42694953C>T | CA443840451 | GHR | c.303C>T (p.Cys101=) c.237C>T (p.Cys79=) c.173C>T (p.Ala58Val) c.324C>T (p.Cys108=) c.258C>T (p.Cys86=) | gnomAD v4 |
| 5 | g.42694954C>A | CA359695068 | GHR | c.304C>A (p.Pro102Thr) c.238C>A (p.Pro80Thr) c.174C>A (p.Ala58=) c.325C>A (p.Pro109Thr) c.259C>A (p.Pro87Thr) | |
| 5 | g.42694954C>G | CA359695070 | GHR | c.304C>G (p.Pro102Ala) c.238C>G (p.Pro80Ala) c.174C>G (p.Ala58=) c.325C>G (p.Pro109Ala) c.259C>G (p.Pro87Ala) | |
| 5 | g.42694954C>T | CA359695069 | GHR | c.304C>T (p.Pro102Ser) c.238C>T (p.Pro80Ser) c.174C>T (p.Ala58=) c.325C>T (p.Pro109Ser) c.259C>T (p.Pro87Ser) | |
| 5 | g.42694955C>A | CA359695071 | GHR | c.305C>A (p.Pro102His) c.239C>A (p.Pro80His) c.175C>A (p.Leu59Met) c.326C>A (p.Pro109His) c.260C>A (p.Pro87His) | |
| 5 | g.42694955C= | CA1542287782 | GHR | c.305C= (p.Pro102=) c.239C= (p.Pro80=) c.175C= (p.Leu59=) c.326C= (p.Pro109=) c.260C= (p.Pro87=) | |
| 5 | g.42694955C>G | CA359695073 | GHR | c.305C>G (p.Pro102Arg) c.239C>G (p.Pro80Arg) c.175C>G (p.Leu59Val) c.326C>G (p.Pro109Arg) c.260C>G (p.Pro87Arg) | dbSNP |
| 5 | g.42694955C>T | CA359695072 | GHR | c.305C>T (p.Pro102Leu) c.239C>T (p.Pro80Leu) c.175C>T (p.Leu59=) c.326C>T (p.Pro109Leu) c.260C>T (p.Pro87Leu) | gnomAD v4 |
| 5 | g.42694956T>A | CA443840467 | GHR | c.306T>A (p.Pro102=) c.240T>A (p.Pro80=) c.176T>A (p.Leu59Gln) c.327T>A (p.Pro109=) c.261T>A (p.Pro87=) | |
| 5 | g.42694956T>C | CA3254378 | GHR | c.306T>C (p.Pro102=) c.240T>C (p.Pro80=) c.176T>C (p.Leu59Pro) c.327T>C (p.Pro109=) c.261T>C (p.Pro87=) | dbSNP ExAC gnomAD v2 |
| 5 | g.42694956T>G | CA443840472 | GHR | c.306T>G (p.Pro102=) c.240T>G (p.Pro80=) c.176T>G (p.Leu59Arg) c.327T>G (p.Pro109=) c.261T>G (p.Pro87=) | |
| 5 | g.42694956T= | CA1542287789 | GHR | c.306T= (p.Pro102=) c.240T= (p.Pro80=) c.176T= (p.Leu59=) c.327T= (p.Pro109=) c.261T= (p.Pro87=) | |
| 5 | g.42694957G>A | CA359695074 | GHR | c.307G>A (p.Asp103Asn) c.241G>A (p.Asp81Asn) c.177G>A (p.Leu59=) c.328G>A (p.Asp110Asn) c.262G>A (p.Asp88Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42694957G>C | CA359695075 | GHR | c.307G>C (p.Asp103His) c.241G>C (p.Asp81His) c.177G>C (p.Leu59=) c.328G>C (p.Asp110His) c.262G>C (p.Asp88His) | |
| 5 | g.42694957G= | CA1542287794 | GHR | c.307G= (p.Asp103=) c.241G= (p.Asp81=) c.177G= (p.Leu59=) c.328G= (p.Asp110=) c.262G= (p.Asp88=) | |
| 5 | g.42694957G>T | CA359695076 | GHR | c.307G>T (p.Asp103Tyr) c.241G>T (p.Asp81Tyr) c.177G>T (p.Leu59=) c.328G>T (p.Asp110Tyr) c.262G>T (p.Asp88Tyr) | |
| 5 | g.42694958A>C | CA359695077 | GHR | c.308A>C (p.Asp103Ala) c.242A>C (p.Asp81Ala) c.178A>C (p.Ile60Leu) c.329A>C (p.Asp110Ala) c.263A>C (p.Asp88Ala) | |
| 5 | g.42694958A>G | CA359695078 | GHR | c.308A>G (p.Asp103Gly) c.242A>G (p.Asp81Gly) c.178A>G (p.Ile60Val) c.329A>G (p.Asp110Gly) c.263A>G (p.Asp88Gly) | COSMIC |
| 5 | g.42694958A>T | CA359695079 | GHR | c.308A>T (p.Asp103Val) c.242A>T (p.Asp81Val) c.178A>T (p.Ile60Phe) c.329A>T (p.Asp110Val) c.263A>T (p.Asp88Val) | gnomAD v4 |
| 5 | g.42694959T>A | CA359695080 | GHR | c.309T>A (p.Asp103Glu) c.243T>A (p.Asp81Glu) c.179T>A (p.Ile60Asn) c.330T>A (p.Asp110Glu) c.264T>A (p.Asp88Glu) | ClinVar dbSNP |
| 5 | g.42694959T>C | CA443840487 | GHR | c.309T>C (p.Asp103=) c.243T>C (p.Asp81=) c.179T>C (p.Ile60Thr) c.330T>C (p.Asp110=) c.264T>C (p.Asp88=) | |
| 5 | g.42694959T>G | CA359695081 | GHR | c.309T>G (p.Asp103Glu) c.243T>G (p.Asp81Glu) c.179T>G (p.Ile60Ser) c.330T>G (p.Asp110Glu) c.264T>G (p.Asp88Glu) | |
| 5 | g.42694959T= | CA1542287800 | GHR | c.309T= (p.Asp103=) c.243T= (p.Asp81=) c.179T= (p.Ile60=) c.330T= (p.Asp110=) c.264T= (p.Asp88=) | |
| 5 | g.42694960T>A | CA359695082 | GHR | c.310T>A (p.Tyr104Asn) c.244T>A (p.Tyr82Asn) c.180T>A (p.Ile60=) c.331T>A (p.Tyr111Asn) c.265T>A (p.Tyr89Asn) | gnomAD v4 |
| 5 | g.42694960T>C | CA359695083 | GHR | c.310T>C (p.Tyr104His) c.244T>C (p.Tyr82His) c.180T>C (p.Ile60=) c.331T>C (p.Tyr111His) c.265T>C (p.Tyr89His) | |
| 5 | g.42694960T>G | CA359695084 | GHR | c.310T>G (p.Tyr104Asp) c.244T>G (p.Tyr82Asp) c.180T>G (p.Ile60Met) c.331T>G (p.Tyr111Asp) c.265T>G (p.Tyr89Asp) | |
| 5 | g.42694961A= | CA1542287806 | GHR | c.311A= (p.Tyr104=) c.245A= (p.Tyr82=) c.181A= (p.Met61=) c.332A= (p.Tyr111=) c.266A= (p.Tyr89=) | |
| 5 | g.42694961A>C | CA359695085 | GHR | c.311A>C (p.Tyr104Ser) c.245A>C (p.Tyr82Ser) c.181A>C (p.Met61Leu) c.332A>C (p.Tyr111Ser) c.266A>C (p.Tyr89Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42694961A>G | CA359695087 | GHR | c.311A>G (p.Tyr104Cys) c.245A>G (p.Tyr82Cys) c.181A>G (p.Met61Val) c.332A>G (p.Tyr111Cys) c.266A>G (p.Tyr89Cys) | ClinVar |
| 5 | g.42694961A>T | CA359695086 | GHR | c.311A>T (p.Tyr104Phe) c.245A>T (p.Tyr82Phe) c.181A>T (p.Met61Leu) c.332A>T (p.Tyr111Phe) c.266A>T (p.Tyr89Phe) | |
| 5 | g.42694962T>A | CA359695088 | GHR | c.312T>A (p.Tyr104Ter) c.246T>A (p.Tyr82Ter) c.182T>A (p.Met61Lys) c.333T>A (p.Tyr111Ter) c.267T>A (p.Tyr89Ter) | |
| 5 | g.42694962T>C | CA443840511 | GHR | c.312T>C (p.Tyr104=) c.246T>C (p.Tyr82=) c.182T>C (p.Met61Thr) c.333T>C (p.Tyr111=) c.267T>C (p.Tyr89=) | gnomAD v4 |
| 5 | g.42694962T>G | CA359695089 | GHR | c.312T>G (p.Tyr104Ter) c.246T>G (p.Tyr82Ter) c.182T>G (p.Met61Arg) c.333T>G (p.Tyr111Ter) c.267T>G (p.Tyr89Ter) | |
| 5 | g.42694963G>A | CA359695090 | GHR | c.313G>A (p.Val105Ile) c.247G>A (p.Val83Ile) c.183G>A (p.Met61Ile) c.334G>A (p.Val112Ile) c.268G>A (p.Val90Ile) | |
| 5 | g.42694963G>C | CA359695091 | GHR | c.313G>C (p.Val105Leu) c.247G>C (p.Val83Leu) c.183G>C (p.Met61Ile) c.334G>C (p.Val112Leu) c.268G>C (p.Val90Leu) | |
| 5 | g.42694963G>T | CA359695092 | GHR | c.313G>T (p.Val105Phe) c.247G>T (p.Val83Phe) c.183G>T (p.Met61Ile) c.334G>T (p.Val112Phe) c.268G>T (p.Val90Phe) | |
| 5 | g.42694964T>A | CA359695093 | GHR | c.314T>A (p.Val105Asp) c.248T>A (p.Val83Asp) c.184T>A (p.Phe62Ile) c.335T>A (p.Val112Asp) c.269T>A (p.Val90Asp) | |
| 5 | g.42694964T>C | CA359695094 | GHR | c.314T>C (p.Val105Ala) c.248T>C (p.Val83Ala) c.184T>C (p.Phe62Leu) c.335T>C (p.Val112Ala) c.269T>C (p.Val90Ala) | |
| 5 | g.42694964T>G | CA359695095 | GHR | c.314T>G (p.Val105Gly) c.248T>G (p.Val83Gly) c.184T>G (p.Phe62Val) c.335T>G (p.Val112Gly) c.269T>G (p.Val90Gly) | |
| 5 | g.42694965T>A | CA443840530 | GHR | c.315T>A (p.Val105=) c.249T>A (p.Val83=) c.185T>A (p.Phe62Tyr) c.336T>A (p.Val112=) c.270T>A (p.Val90=) | |
| 5 | g.42694965T>C | CA443840533 | GHR | c.315T>C (p.Val105=) c.249T>C (p.Val83=) c.185T>C (p.Phe62Ser) c.336T>C (p.Val112=) c.270T>C (p.Val90=) | |
| 5 | g.42694965T>G | CA443840537 | GHR | c.315T>G (p.Val105=) c.249T>G (p.Val83=) c.185T>G (p.Phe62Cys) c.336T>G (p.Val112=) c.270T>G (p.Val90=) | |
| 5 | g.42694966T>A | CA359695098 | GHR | c.316T>A (p.Ser106Thr) c.250T>A (p.Ser84Thr) c.186T>A (p.Phe62Leu) c.337T>A (p.Ser113Thr) c.271T>A (p.Ser91Thr) | gnomAD v4 |
| 5 | g.42694966T>C | CA359695097 | GHR | c.316T>C (p.Ser106Pro) c.250T>C (p.Ser84Pro) c.186T>C (p.Phe62=) c.337T>C (p.Ser113Pro) c.271T>C (p.Ser91Pro) | |
| 5 | g.42694966T>G | CA359695096 | GHR | c.316T>G (p.Ser106Ala) c.250T>G (p.Ser84Ala) c.186T>G (p.Phe62Leu) c.337T>G (p.Ser113Ala) c.271T>G (p.Ser91Ala) | |
| 5 | g.42694967C>A | CA359695099 | GHR | c.317C>A (p.Ser106Tyr) c.251C>A (p.Ser84Tyr) c.187C>A (p.Leu63Met) c.338C>A (p.Ser113Tyr) c.272C>A (p.Ser91Tyr) | |
| 5 | g.42694967C>G | CA359695100 | GHR | c.317C>G (p.Ser106Cys) c.251C>G (p.Ser84Cys) c.187C>G (p.Leu63Val) c.338C>G (p.Ser113Cys) c.272C>G (p.Ser91Cys) | |
| 5 | g.42694967C>T | CA359695101 | GHR | c.317C>T (p.Ser106Phe) c.251C>T (p.Ser84Phe) c.187C>T (p.Leu63=) c.338C>T (p.Ser113Phe) c.272C>T (p.Ser91Phe) | gnomAD v4 |
| 5 | g.42694968T>A | CA443840558 | GHR | c.318T>A (p.Ser106=) c.252T>A (p.Ser84=) c.188T>A (p.Leu63Gln) c.339T>A (p.Ser113=) c.273T>A (p.Ser91=) | |
| 5 | g.42694968T>C | CA443840560 | GHR | c.318T>C (p.Ser106=) c.252T>C (p.Ser84=) c.188T>C (p.Leu63Pro) c.339T>C (p.Ser113=) c.273T>C (p.Ser91=) | |
| 5 | g.42694968T>G | CA443840563 | GHR | c.318T>G (p.Ser106=) c.252T>G (p.Ser84=) c.188T>G (p.Leu63Arg) c.339T>G (p.Ser113=) c.273T>G (p.Ser91=) | |
| 5 | g.42694969G>A | CA359695102 | GHR | c.319G>A (p.Ala107Thr) c.253G>A (p.Ala85Thr) c.189G>A (p.Leu63=) c.340G>A (p.Ala114Thr) c.274G>A (p.Ala92Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42694969G>C | CA359695103 | GHR | c.319G>C (p.Ala107Pro) c.253G>C (p.Ala85Pro) c.189G>C (p.Leu63=) c.340G>C (p.Ala114Pro) c.274G>C (p.Ala92Pro) | |
| 5 | g.42694969G= | CA1542287813 | GHR | c.319G= (p.Ala107=) c.253G= (p.Ala85=) c.189G= (p.Leu63=) c.340G= (p.Ala114=) c.274G= (p.Ala92=) | |
| 5 | g.42694969G>T | CA359695104 | GHR | c.319G>T (p.Ala107Ser) c.253G>T (p.Ala85Ser) c.189G>T (p.Leu63=) c.340G>T (p.Ala114Ser) c.274G>T (p.Ala92Ser) | |
| 5 | g.42694970C>A | CA359695105 | GHR | c.320C>A (p.Ala107Asp) c.254C>A (p.Ala85Asp) c.190C>A (p.Leu64Met) c.341C>A (p.Ala114Asp) c.275C>A (p.Ala92Asp) | |
| 5 | g.42694970C>G | CA359695106 | GHR | c.320C>G (p.Ala107Gly) c.254C>G (p.Ala85Gly) c.190C>G (p.Leu64Val) c.341C>G (p.Ala114Gly) c.275C>G (p.Ala92Gly) | |
| 5 | g.42694970C>T | CA359695107 | GHR | c.320C>T (p.Ala107Val) c.254C>T (p.Ala85Val) c.190C>T (p.Leu64=) c.341C>T (p.Ala114Val) c.275C>T (p.Ala92Val) | |
| 5 | g.42694971T>A | CA443840580 | GHR | c.321T>A (p.Ala107=) c.255T>A (p.Ala85=) c.191T>A (p.Leu64Gln) c.342T>A (p.Ala114=) c.276T>A (p.Ala92=) | |
| 5 | g.42694971T>C | CA443840586 | GHR | c.321T>C (p.Ala107=) c.255T>C (p.Ala85=) c.191T>C (p.Leu64Pro) c.342T>C (p.Ala114=) c.276T>C (p.Ala92=) | |
| 5 | g.42694971T>G | CA443840583 | GHR | c.321T>G (p.Ala107=) c.255T>G (p.Ala85=) c.191T>G (p.Leu64Arg) c.342T>G (p.Ala114=) c.276T>G (p.Ala92=) | |
| 5 | g.42694972G>A | CA359695108 | GHR | c.322G>A (p.Gly108Arg) c.256G>A (p.Gly86Arg) c.192G>A (p.Leu64=) c.343G>A (p.Gly115Arg) c.277G>A (p.Gly93Arg) | |
| 5 | g.42694972G>C | CA359695109 | GHR | c.322G>C (p.Gly108Arg) c.256G>C (p.Gly86Arg) c.192G>C (p.Leu64=) c.343G>C (p.Gly115Arg) c.277G>C (p.Gly93Arg) | |
| 5 | g.42694972G>T | CA359695110 | GHR | c.322G>T (p.Gly108Trp) c.256G>T (p.Gly86Trp) c.192G>T (p.Leu64=) c.343G>T (p.Gly115Trp) c.277G>T (p.Gly93Trp) | |
| 5 | g.42694973G>A | CA359695113 | GHR | c.323G>A (p.Gly108Glu) c.257G>A (p.Gly86Glu) c.193G>A (p.Gly65Arg) c.344G>A (p.Gly115Glu) c.278G>A (p.Gly93Glu) | COSMIC |
| 5 | g.42694973G>C | CA359695111 | GHR | c.323G>C (p.Gly108Ala) c.257G>C (p.Gly86Ala) c.193G>C (p.Gly65Arg) c.344G>C (p.Gly115Ala) c.278G>C (p.Gly93Ala) | |
| 5 | g.42694973G>T | CA359695112 | GHR | c.323G>T (p.Gly108Val) c.257G>T (p.Gly86Val) c.193G>T (p.Gly65Trp) c.344G>T (p.Gly115Val) c.278G>T (p.Gly93Val) | |
| 5 | g.42694974G>A | CA443840605 | GHR | c.324G>A (p.Gly108=) c.258G>A (p.Gly86=) c.194G>A (p.Gly65Glu) c.345G>A (p.Gly115=) c.279G>A (p.Gly93=) | |
| 5 | g.42694974G>C | CA443840608 | GHR | c.324G>C (p.Gly108=) c.258G>C (p.Gly86=) c.194G>C (p.Gly65Ala) c.345G>C (p.Gly115=) c.279G>C (p.Gly93=) | |
| 5 | g.42694974G>T | CA443840612 | GHR | c.324G>T (p.Gly108=) c.258G>T (p.Gly86=) c.194G>T (p.Gly65Val) c.345G>T (p.Gly115=) c.279G>T (p.Gly93=) | COSMIC |
| 5 | g.42694975G>A | CA359695114 | GHR | c.325G>A (p.Glu109Lys) c.259G>A (p.Glu87Lys) c.195G>A (p.Gly65=) c.346G>A (p.Glu116Lys) c.280G>A (p.Glu94Lys) | |
| 5 | g.42694975G>C | CA359695115 | GHR | c.325G>C (p.Glu109Gln) c.259G>C (p.Glu87Gln) c.195G>C (p.Gly65=) c.346G>C (p.Glu116Gln) c.280G>C (p.Glu94Gln) | |
| 5 | g.42694975G>T | CA359695116 | GHR | c.325G>T (p.Glu109Ter) c.259G>T (p.Glu87Ter) c.195G>T (p.Gly65=) c.346G>T (p.Glu116Ter) c.280G>T (p.Glu94Ter) | |
| 5 | g.42694976A>C | CA359695117 | GHR | c.326A>C (p.Glu109Ala) c.260A>C (p.Glu87Ala) c.196A>C (p.Lys66Gln) c.347A>C (p.Glu116Ala) c.281A>C (p.Glu94Ala) | |
| 5 | g.42694976A>G | CA359695118 | GHR | c.326A>G (p.Glu109Gly) c.260A>G (p.Glu87Gly) c.196A>G (p.Lys66Glu) c.347A>G (p.Glu116Gly) c.281A>G (p.Glu94Gly) | |
| 5 | g.42694976A>T | CA359695119 | GHR | c.326A>T (p.Glu109Val) c.260A>T (p.Glu87Val) c.196A>T (p.Lys66Ter) c.347A>T (p.Glu116Val) c.281A>T (p.Glu94Val) | |
| 5 | g.42694979del | CA2673723656 | GHR | c.329del (p.Asn110ThrfsTer20) c.263del (p.Asn88ThrfsTer20) c.199del (p.Thr67GlnfsTer5) c.350del (p.Asn117ThrfsTer20) c.284del (p.Asn95ThrfsTer20) | gnomAD v4 |
| 5 | g.42694977A>C | CA359695120 | GHR | c.327A>C (p.Glu109Asp) c.261A>C (p.Glu87Asp) c.197A>C (p.Lys66Thr) c.348A>C (p.Glu116Asp) c.282A>C (p.Glu94Asp) | |
| 5 | g.42694977A>G | CA443840630 | GHR | c.327A>G (p.Glu109=) c.261A>G (p.Glu87=) c.197A>G (p.Lys66Arg) c.348A>G (p.Glu116=) c.282A>G (p.Glu94=) | |
| 5 | g.42694977A>T | CA359695121 | GHR | c.327A>T (p.Glu109Asp) c.261A>T (p.Glu87Asp) c.197A>T (p.Lys66Ile) c.348A>T (p.Glu116Asp) c.282A>T (p.Glu94Asp) | |
| 5 | g.42694978A>C | CA359695122 | GHR | c.328A>C (p.Asn110His) c.262A>C (p.Asn88His) c.198A>C (p.Lys66Asn) c.349A>C (p.Asn117His) c.283A>C (p.Asn95His) | |
| 5 | g.42694978A>G | CA359695123 | GHR | c.328A>G (p.Asn110Asp) c.262A>G (p.Asn88Asp) c.198A>G (p.Lys66=) c.349A>G (p.Asn117Asp) c.283A>G (p.Asn95Asp) | |
| 5 | g.42694978A>T | CA359695124 | GHR | c.328A>T (p.Asn110Tyr) c.262A>T (p.Asn88Tyr) c.198A>T (p.Lys66Asn) c.349A>T (p.Asn117Tyr) c.283A>T (p.Asn95Tyr) | |
| 5 | g.42694979A>C | CA359695126 | GHR | c.329A>C (p.Asn110Thr) c.263A>C (p.Asn88Thr) c.199A>C (p.Thr67Pro) c.350A>C (p.Asn117Thr) c.284A>C (p.Asn95Thr) | |
| 5 | g.42694979A>G | CA359695127 | GHR | c.329A>G (p.Asn110Ser) c.263A>G (p.Asn88Ser) c.199A>G (p.Thr67Ala) c.350A>G (p.Asn117Ser) c.284A>G (p.Asn95Ser) | gnomAD v4 |
| 5 | g.42694979A>T | CA359695125 | GHR | c.329A>T (p.Asn110Ile) c.263A>T (p.Asn88Ile) c.199A>T (p.Thr67Ser) c.350A>T (p.Asn117Ile) c.284A>T (p.Asn95Ile) | ClinVar |
| 5 | g.42694980C>A | CA359695128 | GHR | c.330C>A (p.Asn110Lys) c.264C>A (p.Asn88Lys) c.200C>A (p.Thr67Lys) c.351C>A (p.Asn117Lys) c.285C>A (p.Asn95Lys) | gnomAD v4 |
| 5 | g.42694980C= | CA1542287817 | GHR | c.330C= (p.Asn110=) c.264C= (p.Asn88=) c.200C= (p.Thr67=) c.351C= (p.Asn117=) c.285C= (p.Asn95=) | |
| 5 | g.42694980C>G | CA118047678 | GHR | c.330C>G (p.Asn110Lys) c.264C>G (p.Asn88Lys) c.200C>G (p.Thr67Arg) c.351C>G (p.Asn117Lys) c.285C>G (p.Asn95Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42694980C>T | CA3254379 | GHR | c.330C>T (p.Asn110=) c.264C>T (p.Asn88=) c.200C>T (p.Thr67Ile) c.351C>T (p.Asn117=) c.285C>T (p.Asn95=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.42694981A>C | CA359695129 | GHR | c.331A>C (p.Ser111Arg) c.265A>C (p.Ser89Arg) c.201A>C (p.Thr67=) c.352A>C (p.Ser118Arg) c.286A>C (p.Ser96Arg) | |
| 5 | g.42694981A>G | CA359695130 | GHR | c.331A>G (p.Ser111Gly) c.265A>G (p.Ser89Gly) c.201A>G (p.Thr67=) c.352A>G (p.Ser118Gly) c.286A>G (p.Ser96Gly) | |
| 5 | g.42694981A>T | CA359695131 | GHR | c.331A>T (p.Ser111Cys) c.265A>T (p.Ser89Cys) c.201A>T (p.Thr67=) c.352A>T (p.Ser118Cys) c.286A>T (p.Ser96Cys) | |
| 5 | g.42694982G>A | CA359695132 | GHR | c.332G>A (p.Ser111Asn) c.266G>A (p.Ser89Asn) c.202G>A (p.Ala68Thr) c.353G>A (p.Ser118Asn) c.287G>A (p.Ser96Asn) | gnomAD v4 |
| 5 | g.42694982G>C | CA359695133 | GHR | c.332G>C (p.Ser111Thr) c.266G>C (p.Ser89Thr) c.202G>C (p.Ala68Pro) c.353G>C (p.Ser118Thr) c.287G>C (p.Ser96Thr) | |
| 5 | g.42694982G>T | CA359695134 | GHR | c.332G>T (p.Ser111Ile) c.266G>T (p.Ser89Ile) c.202G>T (p.Ala68Ser) c.353G>T (p.Ser118Ile) c.287G>T (p.Ser96Ile) | |
| 5 | g.42694983C>A | CA359695135 | GHR | c.333C>A (p.Ser111Arg) c.267C>A (p.Ser89Arg) c.203C>A (p.Ala68Asp) c.354C>A (p.Ser118Arg) c.288C>A (p.Ser96Arg) | |
| 5 | g.42694983C= | CA1542287821 | GHR | c.333C= (p.Ser111=) c.267C= (p.Ser89=) c.203C= (p.Ala68=) c.354C= (p.Ser118=) c.288C= (p.Ser96=) | |
| 5 | g.42694983C>G | CA359695136 | GHR | c.333C>G (p.Ser111Arg) c.267C>G (p.Ser89Arg) c.203C>G (p.Ala68Gly) c.354C>G (p.Ser118Arg) c.288C>G (p.Ser96Arg) | |
| 5 | g.42694983C>T | CA443840688 | GHR | c.333C>T (p.Ser111=) c.267C>T (p.Ser89=) c.203C>T (p.Ala68Val) c.354C>T (p.Ser118=) c.288C>T (p.Ser96=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42694984T>A | CA359695137 | GHR | c.334T>A (p.Cys112Ser) c.268T>A (p.Cys90Ser) c.204T>A (p.Ala68=) c.355T>A (p.Cys119Ser) c.289T>A (p.Cys97Ser) | |
| 5 | g.42694984T>C | CA359695138 | GHR | c.334T>C (p.Cys112Arg) c.268T>C (p.Cys90Arg) c.204T>C (p.Ala68=) c.355T>C (p.Cys119Arg) c.289T>C (p.Cys97Arg) | dbSNP COSMIC |
| 5 | g.42694984T>G | CA359695139 | GHR | c.334T>G (p.Cys112Gly) c.268T>G (p.Cys90Gly) c.204T>G (p.Ala68=) c.355T>G (p.Cys119Gly) c.289T>G (p.Cys97Gly) | |
| 5 | g.42694984T= | CA1542287824 | GHR | c.334T= (p.Cys112=) c.268T= (p.Cys90=) c.204T= (p.Ala68=) c.355T= (p.Cys119=) c.289T= (p.Cys97=) | |
| 5 | g.42694985G>A | CA359695140 | GHR | c.335G>A (p.Cys112Tyr) c.269G>A (p.Cys90Tyr) c.205G>A (p.Val69Ile) c.356G>A (p.Cys119Tyr) c.290G>A (p.Cys97Tyr) | dbSNP |
| 5 | g.42694985G>C | CA119817 | GHR | c.335G>C (p.Cys112Ser) c.269G>C (p.Cys90Ser) c.205G>C (p.Val69Leu) c.356G>C (p.Cys119Ser) c.290G>C (p.Cys97Ser) | ClinVar dbSNP |
| 5 | g.42694985G= | CA1542287828 | GHR | c.335G= (p.Cys112=) c.269G= (p.Cys90=) c.205G= (p.Val69=) c.356G= (p.Cys119=) c.290G= (p.Cys97=) | |
| 5 | g.42694985G>T | CA359695141 | GHR | c.335G>T (p.Cys112Phe) c.269G>T (p.Cys90Phe) c.205G>T (p.Val69Phe) c.356G>T (p.Cys119Phe) c.290G>T (p.Cys97Phe) | ClinVar |
| 5 | g.42694986T>A | CA359695142 | GHR | c.336T>A (p.Cys112Ter) c.270T>A (p.Cys90Ter) c.206T>A (p.Val69Asp) c.357T>A (p.Cys119Ter) c.291T>A (p.Cys97Ter) | |
| 5 | g.42694986T>C | CA443840707 | GHR | c.336T>C (p.Cys112=) c.270T>C (p.Cys90=) c.206T>C (p.Val69Ala) c.357T>C (p.Cys119=) c.291T>C (p.Cys97=) | |
| 5 | g.42694986T>G | CA359695143 | GHR | c.336T>G (p.Cys112Trp) c.270T>G (p.Cys90Trp) c.206T>G (p.Val69Gly) c.357T>G (p.Cys119Trp) c.291T>G (p.Cys97Trp) | |
| 5 | g.42694987del | CA2697547150 | GHR | c.337del (p.Tyr113ThrfsTer17) c.271del (p.Tyr91ThrfsTer17) c.207del (p.Thr70LeufsTer2) c.358del (p.Tyr120ThrfsTer17) c.292del (p.Tyr98ThrfsTer17) | ClinVar |
| 5 | g.42694987T>A | CA359695144 | GHR | c.337T>A (p.Tyr113Asn) c.271T>A (p.Tyr91Asn) c.207T>A (p.Val69=) c.358T>A (p.Tyr120Asn) c.292T>A (p.Tyr98Asn) | |
| 5 | g.42694987T>C | CA359695145 | GHR | c.337T>C (p.Tyr113His) c.271T>C (p.Tyr91His) c.207T>C (p.Val69=) c.358T>C (p.Tyr120His) c.292T>C (p.Tyr98His) | |
| 5 | g.42694987T>G | CA359695146 | GHR | c.337T>G (p.Tyr113Asp) c.271T>G (p.Tyr91Asp) c.207T>G (p.Val69=) c.358T>G (p.Tyr120Asp) c.292T>G (p.Tyr98Asp) | |
| 5 | g.42694988A>C | CA359695147 | GHR | c.338A>C (p.Tyr113Ser) c.272A>C (p.Tyr91Ser) c.208A>C (p.Thr70Pro) c.359A>C (p.Tyr120Ser) c.293A>C (p.Tyr98Ser) | ClinVar dbSNP |
| 5 | g.42694988A>G | CA359695148 | GHR | c.338A>G (p.Tyr113Cys) c.272A>G (p.Tyr91Cys) c.208A>G (p.Thr70Ala) c.359A>G (p.Tyr120Cys) c.293A>G (p.Tyr98Cys) | |
| 5 | g.42694988A>T | CA359695149 | GHR | c.338A>T (p.Tyr113Phe) c.272A>T (p.Tyr91Phe) c.208A>T (p.Thr70Ser) c.359A>T (p.Tyr120Phe) c.293A>T (p.Tyr98Phe) | gnomAD v4 |
| 5 | g.42694988dup | CA2573052512 | GHR | c.338dup (p.Tyr113Ter) c.272dup (p.Tyr91Ter) c.208dup (p.Thr70AsnfsTer?) c.359dup (p.Tyr120Ter) c.293dup (p.Tyr98Ter) | dbSNP gnomAD v4 |
| 5 | g.42694989C>A | CA359695150 | GHR | c.339C>A (p.Tyr113Ter) c.273C>A (p.Tyr91Ter) c.209C>A (p.Thr70Asn) c.360C>A (p.Tyr120Ter) c.294C>A (p.Tyr98Ter) | |
| 5 | g.42694989C>G | CA359695151 | GHR | c.339C>G (p.Tyr113Ter) c.273C>G (p.Tyr91Ter) c.209C>G (p.Thr70Ser) c.360C>G (p.Tyr120Ter) c.294C>G (p.Tyr98Ter) | |
| 5 | g.42694989C>T | CA443840726 | GHR | c.339C>T (p.Tyr113=) c.273C>T (p.Tyr91=) c.209C>T (p.Thr70Ile) c.360C>T (p.Tyr120=) c.294C>T (p.Tyr98=) | |
| 5 | g.42694990T>A | CA359695153 | GHR | c.340T>A (p.Phe114Ile) c.274T>A (p.Phe92Ile) c.210T>A (p.Thr70=) c.361T>A (p.Phe121Ile) c.295T>A (p.Phe99Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42694990T>C | CA359695154 | GHR | c.340T>C (p.Phe114Leu) c.274T>C (p.Phe92Leu) c.210T>C (p.Thr70=) c.361T>C (p.Phe121Leu) c.295T>C (p.Phe99Leu) | |
| 5 | g.42694990T>G | CA359695152 | GHR | c.340T>G (p.Phe114Val) c.274T>G (p.Phe92Val) c.210T>G (p.Thr70=) c.361T>G (p.Phe121Val) c.295T>G (p.Phe99Val) | |
| 5 | g.42694990T= | CA1542287850 | GHR | c.340T= (p.Phe114=) c.274T= (p.Phe92=) c.210T= (p.Thr70=) c.361T= (p.Phe121=) c.295T= (p.Phe99=) | |
| 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 |
| 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) |