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.42694901dup | CA2673723650 | GHR | c.267-16dup (n.267-16dup) c.201-16dup (n.201-16dup) c.137-16dup (n.137-16dup) c.288-16dup (n.288-16dup) c.222-16dup (n.222-16dup) | gnomAD v4 |
| 5 | g.42694901del | CA559293409 | GHR | c.267-16del (n.267-16del) c.201-16del (n.201-16del) c.137-16del (n.137-16del) c.288-16del (n.288-16del) c.222-16del (n.222-16del) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.42694900T>A | CA559293411 | GHR | c.267-17T>A (n.267-17T>A) c.201-17T>A (n.201-17T>A) c.137-17T>A (n.137-17T>A) c.288-17T>A (n.288-17T>A) c.222-17T>A (n.222-17T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42694900T>G | CA3254370 | GHR | c.267-17T>G (n.267-17T>G) c.201-17T>G (n.201-17T>G) c.137-17T>G (n.137-17T>G) c.288-17T>G (n.288-17T>G) c.222-17T>G (n.222-17T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42694900T= | CA1542287659 | GHR | c.267-17T= (n.267-17T=) c.201-17T= (n.201-17T=) c.137-17T= (n.137-17T=) c.288-17T= (n.288-17T=) c.222-17T= (n.222-17T=) | |
| 5 | g.42694903_42694904delinsAC | CA1542287665 | GHR | c.267-14_267-13delinsAC (n.267-14_267-13delinsAC) c.201-14_201-13delinsAC (n.201-14_201-13delinsAC) c.137-14_137-13delinsAC (n.137-14_137-13delinsAC) c.288-14_288-13delinsAC (n.288-14_288-13delinsAC) c.222-14_222-13delinsAC (n.222-14_222-13delinsAC) | |
| 5 | g.42694904C>A | CA2673723653 | GHR | c.267-13C>A (n.267-13C>A) c.201-13C>A (n.201-13C>A) c.137-13C>A (n.137-13C>A) c.288-13C>A (n.288-13C>A) c.222-13C>A (n.222-13C>A) | gnomAD v4 |
| 5 | g.42694906del | CA118047677 | GHR | c.267-11del (n.267-11del) c.201-11del (n.201-11del) c.137-11del (n.137-11del) c.288-11del (n.288-11del) c.222-11del (n.222-11del) | dbSNP |
| 5 | g.42694905C>A | CA2673723654 | GHR | c.267-12C>A (n.267-12C>A) c.201-12C>A (n.201-12C>A) c.137-12C>A (n.137-12C>A) c.288-12C>A (n.288-12C>A) c.222-12C>A (n.222-12C>A) | gnomAD v4 |
| 5 | g.42694906C>A | CA2578302073 | GHR | c.267-11C>A (n.267-11C>A) c.201-11C>A (n.201-11C>A) c.137-11C>A (n.137-11C>A) c.288-11C>A (n.288-11C>A) c.222-11C>A (n.222-11C>A) | gnomAD v4 |
| 5 | g.42694906C= | CA1542287670 | GHR | c.267-11C= (n.267-11C=) c.201-11C= (n.201-11C=) c.137-11C= (n.137-11C=) c.288-11C= (n.288-11C=) c.222-11C= (n.222-11C=) | |
| 5 | g.42694906C>T | CA559293412 | GHR | c.267-11C>T (n.267-11C>T) c.201-11C>T (n.201-11C>T) c.137-11C>T (n.137-11C>T) c.288-11C>T (n.288-11C>T) c.222-11C>T (n.222-11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42694908T>C | CA3254371 | GHR | c.267-9T>C (n.267-9T>C) c.201-9T>C (n.201-9T>C) c.137-9T>C (n.137-9T>C) c.288-9T>C (n.288-9T>C) c.222-9T>C (n.222-9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42694908T= | CA1542287674 | GHR | c.267-9T= (n.267-9T=) c.201-9T= (n.201-9T=) c.137-9T= (n.137-9T=) c.288-9T= (n.288-9T=) c.222-9T= (n.222-9T=) | |
| 5 | g.42694909C>A | CA2673723655 | GHR | c.267-8C>A (n.267-8C>A) c.201-8C>A (n.201-8C>A) c.137-8C>A (n.137-8C>A) c.288-8C>A (n.288-8C>A) c.222-8C>A (n.222-8C>A) | gnomAD v4 |
| 5 | g.42694909C>G | CA2578302074 | GHR | c.267-8C>G (n.267-8C>G) c.201-8C>G (n.201-8C>G) c.137-8C>G (n.137-8C>G) c.288-8C>G (n.288-8C>G) c.222-8C>G (n.222-8C>G) | |
| 5 | g.42694910A= | CA1542287678 | GHR | c.267-7A= (n.267-7A=) c.201-7A= (n.201-7A=) c.137-7A= (n.137-7A=) c.288-7A= (n.288-7A=) c.222-7A= (n.222-7A=) | |
| 5 | g.42694910A>G | CA2578302075 | GHR | c.267-7A>G (n.267-7A>G) c.201-7A>G (n.201-7A>G) c.137-7A>G (n.137-7A>G) c.288-7A>G (n.288-7A>G) c.222-7A>G (n.222-7A>G) | dbSNP gnomAD v4 |
| 5 | g.42694910A>T | CA3254372 | GHR | c.267-7A>T (n.267-7A>T) c.201-7A>T (n.201-7A>T) c.137-7A>T (n.137-7A>T) c.288-7A>T (n.288-7A>T) c.222-7A>T (n.222-7A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.42694914dup | CA559293413 | GHR | c.267-3dup (n.267-3dup) c.201-3dup (n.201-3dup) c.137-3dup (n.137-3dup) c.288-3dup (n.288-3dup) c.222-3dup (n.222-3dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42694914T>C | CA3254373 | GHR | c.267-3T>C (n.267-3T>C) c.201-3T>C (n.201-3T>C) c.137-3T>C (n.137-3T>C) c.288-3T>C (n.288-3T>C) c.222-3T>C (n.222-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42694914T= | CA1542287692 | GHR | c.267-3T= (n.267-3T=) c.201-3T= (n.201-3T=) c.137-3T= (n.137-3T=) c.288-3T= (n.288-3T=) c.222-3T= (n.222-3T=) | |
| 5 | g.42694915A= | CA1542287701 | GHR | c.267-2A= (n.267-2A=) c.201-2A= (n.201-2A=) c.137-2A= (n.137-2A=) c.288-2A= (n.288-2A=) c.222-2A= (n.222-2A=) | |
| 5 | g.42694915A>C | CA359694973 | GHR | c.267-2A>C (n.267-2A>C) c.201-2A>C (n.201-2A>C) c.137-2A>C (n.137-2A>C) c.288-2A>C (n.288-2A>C) c.222-2A>C (n.222-2A>C) | |
| 5 | g.42694915A>G | CA359694972 | GHR | c.267-2A>G (n.267-2A>G) c.201-2A>G (n.201-2A>G) c.137-2A>G (n.137-2A>G) c.288-2A>G (n.288-2A>G) c.222-2A>G (n.222-2A>G) | ClinVar dbSNP |
| 5 | g.42694915A>T | CA359694971 | GHR | c.267-2A>T (n.267-2A>T) c.201-2A>T (n.201-2A>T) c.137-2A>T (n.137-2A>T) c.288-2A>T (n.288-2A>T) c.222-2A>T (n.222-2A>T) | |
| 5 | g.42694916G>A | CA359694974 | GHR | c.267-1G>A (n.267-1G>A) c.201-1G>A (n.201-1G>A) c.137-1G>A (n.137-1G>A) c.288-1G>A (n.288-1G>A) c.222-1G>A (n.222-1G>A) | COSMIC |
| 5 | g.42694916G>C | CA359694975 | GHR | c.267-1G>C (n.267-1G>C) c.201-1G>C (n.201-1G>C) c.137-1G>C (n.137-1G>C) c.288-1G>C (n.288-1G>C) c.222-1G>C (n.222-1G>C) | |
| 5 | g.42694916G>T | CA359694976 | GHR | c.267-1G>T (n.267-1G>T) c.201-1G>T (n.201-1G>T) c.137-1G>T (n.137-1G>T) c.288-1G>T (n.288-1G>T) c.222-1G>T (n.222-1G>T) | |
| 5 | g.42694917G>A | CA443840155 | GHR | c.267G>A (p.Arg89=) c.201G>A (p.Arg67=) c.137G>A (p.Arg46Lys) c.288G>A (p.Arg96=) c.222G>A (p.Arg74=) | gnomAD v4 |
| 5 | g.42694917G>C | CA359694977 | GHR | c.267G>C (p.Arg89Ser) c.201G>C (p.Arg67Ser) c.137G>C (p.Arg46Thr) c.288G>C (p.Arg96Ser) c.222G>C (p.Arg74Ser) | |
| 5 | g.42694917G>T | CA359694978 | GHR | c.267G>T (p.Arg89Ser) c.201G>T (p.Arg67Ser) c.137G>T (p.Arg46Ile) c.288G>T (p.Arg96Ser) c.222G>T (p.Arg74Ser) | |
| 5 | g.42694918A>C | CA359694979 | GHR | c.268A>C (p.Asn90His) c.202A>C (p.Asn68His) c.138A>C (p.Arg46Ser) c.289A>C (p.Asn97His) c.223A>C (p.Asn75His) | |
| 5 | g.42694918A>G | CA359694980 | GHR | c.268A>G (p.Asn90Asp) c.202A>G (p.Asn68Asp) c.138A>G (p.Arg46=) c.289A>G (p.Asn97Asp) c.223A>G (p.Asn75Asp) | |
| 5 | g.42694918A>T | CA359694981 | GHR | c.268A>T (p.Asn90Tyr) c.202A>T (p.Asn68Tyr) c.138A>T (p.Arg46Ser) c.289A>T (p.Asn97Tyr) c.223A>T (p.Asn75Tyr) | |
| 5 | g.42694919A>C | CA359694982 | GHR | c.269A>C (p.Asn90Thr) c.203A>C (p.Asn68Thr) c.139A>C (p.Thr47Pro) c.290A>C (p.Asn97Thr) c.224A>C (p.Asn75Thr) | |
| 5 | g.42694919A>G | CA359694983 | GHR | c.269A>G (p.Asn90Ser) c.203A>G (p.Asn68Ser) c.139A>G (p.Thr47Ala) c.290A>G (p.Asn97Ser) c.224A>G (p.Asn75Ser) | gnomAD v4 COSMIC |
| 5 | g.42694919A>T | CA359694984 | GHR | c.269A>T (p.Asn90Ile) c.203A>T (p.Asn68Ile) c.139A>T (p.Thr47Ser) c.290A>T (p.Asn97Ile) c.224A>T (p.Asn75Ile) | |
| 5 | g.42694920C>A | CA359694985 | GHR | c.270C>A (p.Asn90Lys) c.204C>A (p.Asn68Lys) c.140C>A (p.Thr47Lys) c.291C>A (p.Asn97Lys) c.225C>A (p.Asn75Lys) | |
| 5 | g.42694920C>G | CA359694986 | GHR | c.270C>G (p.Asn90Lys) c.204C>G (p.Asn68Lys) c.140C>G (p.Thr47Arg) c.291C>G (p.Asn97Lys) c.225C>G (p.Asn75Lys) | |
| 5 | g.42694920C>T | CA443840185 | GHR | c.270C>T (p.Asn90=) c.204C>T (p.Asn68=) c.140C>T (p.Thr47Ile) c.291C>T (p.Asn97=) c.225C>T (p.Asn75=) | |
| 5 | g.42694920_42694932delinsCACTCAAGAATGG | CA1542287706 | GHR | c.270_282delinsCACTCAAGAATGG (p.Asn90=) c.204_216delinsCACTCAAGAATGG (p.Asn68=) c.140_152delinsCACTCAAGAATGG (p.Thr47=) c.291_303delinsCACTCAAGAATGG (p.Asn97=) c.225_237delinsCACTCAAGAATGG (p.Asn75=) | |
| 5 | g.42694921A= | CA1542287710 | GHR | c.271A= (p.Thr91=) c.205A= (p.Thr69=) c.141A= (p.Thr47=) c.292A= (p.Thr98=) c.226A= (p.Thr76=) | |
| 5 | g.42694921A>C | CA359694989 | GHR | c.271A>C (p.Thr91Pro) c.205A>C (p.Thr69Pro) c.141A>C (p.Thr47=) c.292A>C (p.Thr98Pro) c.226A>C (p.Thr76Pro) | gnomAD v4 |
| 5 | g.42694921A>G | CA359694987 | GHR | c.271A>G (p.Thr91Ala) c.205A>G (p.Thr69Ala) c.141A>G (p.Thr47=) c.292A>G (p.Thr98Ala) c.226A>G (p.Thr76Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42694921A>T | CA359694988 | GHR | c.271A>T (p.Thr91Ser) c.205A>T (p.Thr69Ser) c.141A>T (p.Thr47=) c.292A>T (p.Thr98Ser) c.226A>T (p.Thr76Ser) | |
| 5 | g.42694934_42694945del | CA1075502897 | GHR | c.284_295del (p.Thr95_Trp98del) c.218_229del (p.Thr73_Trp76del) c.154_165del (p.Leu52_Gly55del) c.305_316del (p.Thr102_Trp105del) c.239_250del (p.Thr80_Trp83del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42694922C>A | CA359694990 | GHR | c.272C>A (p.Thr91Asn) c.206C>A (p.Thr69Asn) c.142C>A (p.Leu48Ile) c.293C>A (p.Thr98Asn) c.227C>A (p.Thr76Asn) | |
| 5 | g.42694922C>G | CA359694991 | GHR | c.272C>G (p.Thr91Ser) c.206C>G (p.Thr69Ser) c.142C>G (p.Leu48Val) c.293C>G (p.Thr98Ser) c.227C>G (p.Thr76Ser) | gnomAD v4 |
| 5 | g.42694922C>T | CA359694992 | GHR | c.272C>T (p.Thr91Ile) c.206C>T (p.Thr69Ile) c.142C>T (p.Leu48Phe) c.293C>T (p.Thr98Ile) c.227C>T (p.Thr76Ile) | |
| 5 | g.42694923T>A | CA3254374 | GHR | c.273T>A (p.Thr91=) c.207T>A (p.Thr69=) c.143T>A (p.Leu48His) c.294T>A (p.Thr98=) c.228T>A (p.Thr76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42694923T>C | CA443840207 | GHR | c.273T>C (p.Thr91=) c.207T>C (p.Thr69=) c.143T>C (p.Leu48Pro) c.294T>C (p.Thr98=) c.228T>C (p.Thr76=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42694923T>G | CA443840222 | GHR | c.273T>G (p.Thr91=) c.207T>G (p.Thr69=) c.143T>G (p.Leu48Arg) c.294T>G (p.Thr98=) c.228T>G (p.Thr76=) | gnomAD v4 |
| 5 | g.42694923T= | CA1542287715 | GHR | c.273T= (p.Thr91=) c.207T= (p.Thr69=) c.143T= (p.Leu48=) c.294T= (p.Thr98=) c.228T= (p.Thr76=) | |
| 5 | g.42694924C>A | CA359694993 | GHR | c.274C>A (p.Gln92Lys) c.208C>A (p.Gln70Lys) c.144C>A (p.Leu48=) c.295C>A (p.Gln99Lys) c.229C>A (p.Gln77Lys) | gnomAD v4 |
| 5 | g.42694924C>G | CA359694994 | GHR | c.274C>G (p.Gln92Glu) c.208C>G (p.Gln70Glu) c.144C>G (p.Leu48=) c.295C>G (p.Gln99Glu) c.229C>G (p.Gln77Glu) | |
| 5 | g.42694924C>T | CA359694995 | GHR | c.274C>T (p.Gln92Ter) c.208C>T (p.Gln70Ter) c.144C>T (p.Leu48=) c.295C>T (p.Gln99Ter) c.229C>T (p.Gln77Ter) | gnomAD v4 |
| 5 | g.42694925A>C | CA359694996 | GHR | c.275A>C (p.Gln92Pro) c.209A>C (p.Gln70Pro) c.145A>C (p.Lys49Gln) c.296A>C (p.Gln99Pro) c.230A>C (p.Gln77Pro) | |
| 5 | g.42694925A>G | CA359694997 | GHR | c.275A>G (p.Gln92Arg) c.209A>G (p.Gln70Arg) c.145A>G (p.Lys49Glu) c.296A>G (p.Gln99Arg) c.230A>G (p.Gln77Arg) | |
| 5 | g.42694925A>T | CA359694998 | GHR | c.275A>T (p.Gln92Leu) c.209A>T (p.Gln70Leu) c.145A>T (p.Lys49Ter) c.296A>T (p.Gln99Leu) c.230A>T (p.Gln77Leu) | |
| 5 | g.42694926A>C | CA359694999 | GHR | c.276A>C (p.Gln92His) c.210A>C (p.Gln70His) c.146A>C (p.Lys49Thr) c.297A>C (p.Gln99His) c.231A>C (p.Gln77His) | |
| 5 | g.42694926A>G | CA443840244 | GHR | c.276A>G (p.Gln92=) c.210A>G (p.Gln70=) c.146A>G (p.Lys49Arg) c.297A>G (p.Gln99=) c.231A>G (p.Gln77=) | |
| 5 | g.42694926A>T | CA359695000 | GHR | c.276A>T (p.Gln92His) c.210A>T (p.Gln70His) c.146A>T (p.Lys49Met) c.297A>T (p.Gln99His) c.231A>T (p.Gln77His) | |
| 5 | g.42694927G>A | CA359695002 | GHR | c.277G>A (p.Glu93Lys) c.211G>A (p.Glu71Lys) c.147G>A (p.Lys49=) c.298G>A (p.Glu100Lys) c.232G>A (p.Glu78Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42694927G>C | CA3254375 | GHR | c.277G>C (p.Glu93Gln) c.211G>C (p.Glu71Gln) c.147G>C (p.Lys49Asn) c.298G>C (p.Glu100Gln) c.232G>C (p.Glu78Gln) | dbSNP ExAC gnomAD v2 |
| 5 | g.42694927G= | CA1542287721 | GHR | c.277G= (p.Glu93=) c.211G= (p.Glu71=) c.147G= (p.Lys49=) c.298G= (p.Glu100=) c.232G= (p.Glu78=) | |
| 5 | g.42694927G>T | CA359695001 | GHR | c.277G>T (p.Glu93Ter) c.211G>T (p.Glu71Ter) c.147G>T (p.Lys49Asn) c.298G>T (p.Glu100Ter) c.232G>T (p.Glu78Ter) | COSMIC |
| 5 | g.42694928A>C | CA359695005 | GHR | c.278A>C (p.Glu93Ala) c.212A>C (p.Glu71Ala) c.148A>C (p.Asn50His) c.299A>C (p.Glu100Ala) c.233A>C (p.Glu78Ala) | |
| 5 | g.42694928A>G | CA359695003 | GHR | c.278A>G (p.Glu93Gly) c.212A>G (p.Glu71Gly) c.148A>G (p.Asn50Asp) c.299A>G (p.Glu100Gly) c.233A>G (p.Glu78Gly) | |
| 5 | g.42694928A>T | CA359695004 | GHR | c.278A>T (p.Glu93Val) c.212A>T (p.Glu71Val) c.148A>T (p.Asn50Tyr) c.299A>T (p.Glu100Val) c.233A>T (p.Glu78Val) | |
| 5 | g.42694929A>C | CA359695006 | GHR | c.279A>C (p.Glu93Asp) c.213A>C (p.Glu71Asp) c.149A>C (p.Asn50Thr) c.300A>C (p.Glu100Asp) c.234A>C (p.Glu78Asp) | |
| 5 | g.42694929A>G | CA443840277 | GHR | c.279A>G (p.Glu93=) c.213A>G (p.Glu71=) c.149A>G (p.Asn50Ser) c.300A>G (p.Glu100=) c.234A>G (p.Glu78=) | COSMIC |
| 5 | g.42694929A>T | CA359695007 | GHR | c.279A>T (p.Glu93Asp) c.213A>T (p.Glu71Asp) c.149A>T (p.Asn50Ile) c.300A>T (p.Glu100Asp) c.234A>T (p.Glu78Asp) | gnomAD v4 |
| 5 | g.42694930T>A | CA3254377 | GHR | c.280T>A (p.Trp94Arg) c.214T>A (p.Trp72Arg) c.150T>A (p.Asn50Lys) c.301T>A (p.Trp101Arg) c.235T>A (p.Trp79Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.42694930T>C | CA3254376 | GHR | c.280T>C (p.Trp94Arg) c.214T>C (p.Trp72Arg) c.150T>C (p.Asn50=) c.301T>C (p.Trp101Arg) c.235T>C (p.Trp79Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42694930T>G | CA359695008 | GHR | c.280T>G (p.Trp94Gly) c.214T>G (p.Trp72Gly) c.150T>G (p.Asn50Lys) c.301T>G (p.Trp101Gly) c.235T>G (p.Trp79Gly) | |
| 5 | g.42694930T= | CA1542287727 | GHR | c.280T= (p.Trp94=) c.214T= (p.Trp72=) c.150T= (p.Asn50=) c.301T= (p.Trp101=) c.235T= (p.Trp79=) | |
| 5 | g.42694931G>A | CA16609443 | GHR | c.281G>A (p.Trp94Ter) c.215G>A (p.Trp72Ter) c.151G>A (p.Gly51Arg) c.302G>A (p.Trp101Ter) c.236G>A (p.Trp79Ter) | ClinVar dbSNP |
| 5 | g.42694931G>C | CA359695009 | GHR | c.281G>C (p.Trp94Ser) c.215G>C (p.Trp72Ser) c.151G>C (p.Gly51Arg) c.302G>C (p.Trp101Ser) c.236G>C (p.Trp79Ser) | |
| 5 | g.42694931G= | CA1542287732 | GHR | c.281G= (p.Trp94=) c.215G= (p.Trp72=) c.151G= (p.Gly51=) c.302G= (p.Trp101=) c.236G= (p.Trp79=) | |
| 5 | g.42694931G>T | CA359695010 | GHR | c.281G>T (p.Trp94Leu) c.215G>T (p.Trp72Leu) c.151G>T (p.Gly51Ter) c.302G>T (p.Trp101Leu) c.236G>T (p.Trp79Leu) | |
| 5 | g.42694932del | CA2578302076 | GHR | c.282del (p.Trp94Ter) c.216del (p.Trp72Ter) c.152del (p.Gly51AspfsTer9) c.303del (p.Trp101Ter) c.237del (p.Trp79Ter) | |
| 5 | g.42694932G>A | CA359695011 | GHR | c.282G>A (p.Trp94Ter) c.216G>A (p.Trp72Ter) c.152G>A (p.Gly51Glu) c.303G>A (p.Trp101Ter) c.237G>A (p.Trp79Ter) | |
| 5 | g.42694932G>C | CA359695012 | GHR | c.282G>C (p.Trp94Cys) c.216G>C (p.Trp72Cys) c.152G>C (p.Gly51Ala) c.303G>C (p.Trp101Cys) c.237G>C (p.Trp79Cys) | |
| 5 | g.42694932G>T | CA359695013 | GHR | c.282G>T (p.Trp94Cys) c.216G>T (p.Trp72Cys) c.152G>T (p.Gly51Val) c.303G>T (p.Trp101Cys) c.237G>T (p.Trp79Cys) | |
| 5 | g.42694933A= | CA1542287739 | GHR | c.283A= (p.Thr95=) c.217A= (p.Thr73=) c.153A= (p.Gly51=) c.304A= (p.Thr102=) c.238A= (p.Thr80=) | |
| 5 | g.42694933A>C | CA359695014 | GHR | c.283A>C (p.Thr95Pro) c.217A>C (p.Thr73Pro) c.153A>C (p.Gly51=) c.304A>C (p.Thr102Pro) c.238A>C (p.Thr80Pro) | |
| 5 | g.42694933A>G | CA359695016 | GHR | c.283A>G (p.Thr95Ala) c.217A>G (p.Thr73Ala) c.153A>G (p.Gly51=) c.304A>G (p.Thr102Ala) c.238A>G (p.Thr80Ala) | |
| 5 | g.42694933A>T | CA359695015 | GHR | c.283A>T (p.Thr95Ser) c.217A>T (p.Thr73Ser) c.153A>T (p.Gly51=) c.304A>T (p.Thr102Ser) c.238A>T (p.Thr80Ser) | dbSNP |
| 5 | g.42694934C>A | CA359695017 | GHR | c.284C>A (p.Thr95Asn) c.218C>A (p.Thr73Asn) c.154C>A (p.Leu52Ile) c.305C>A (p.Thr102Asn) c.239C>A (p.Thr80Asn) | |
| 5 | g.42694934C= | CA1542287749 | GHR | c.284C= (p.Thr95=) c.218C= (p.Thr73=) c.154C= (p.Leu52=) c.305C= (p.Thr102=) c.239C= (p.Thr80=) | |
| 5 | g.42694934C>G | CA359695018 | GHR | c.284C>G (p.Thr95Ser) c.218C>G (p.Thr73Ser) c.154C>G (p.Leu52Val) c.305C>G (p.Thr102Ser) c.239C>G (p.Thr80Ser) | |
| 5 | g.42694934C>T | CA359695019 | GHR | c.284C>T (p.Thr95Ile) c.218C>T (p.Thr73Ile) c.154C>T (p.Leu52Phe) c.305C>T (p.Thr102Ile) c.239C>T (p.Thr80Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42694935T>A | CA443840312 | GHR | c.285T>A (p.Thr95=) c.219T>A (p.Thr73=) c.155T>A (p.Leu52His) c.306T>A (p.Thr102=) c.240T>A (p.Thr80=) | |
| 5 | g.42694935T>C | CA443840314 | GHR | c.285T>C (p.Thr95=) c.219T>C (p.Thr73=) c.155T>C (p.Leu52Pro) c.306T>C (p.Thr102=) c.240T>C (p.Thr80=) | |
| 5 | g.42694935T>G | CA443840318 | GHR | c.285T>G (p.Thr95=) c.219T>G (p.Thr73=) c.155T>G (p.Leu52Arg) c.306T>G (p.Thr102=) c.240T>G (p.Thr80=) | |
| 5 | g.42694936C>A | CA359695020 | GHR | c.286C>A (p.Gln96Lys) c.220C>A (p.Gln74Lys) c.156C>A (p.Leu52=) c.307C>A (p.Gln103Lys) c.241C>A (p.Gln81Lys) | |
| 5 | g.42694936C= | CA1542287750 | GHR | c.286C= (p.Gln96=) c.220C= (p.Gln74=) c.156C= (p.Leu52=) c.307C= (p.Gln103=) c.241C= (p.Gln81=) | |
| 5 | g.42694936C>G | CA359695021 | GHR | c.286C>G (p.Gln96Glu) c.220C>G (p.Gln74Glu) c.156C>G (p.Leu52=) c.307C>G (p.Gln103Glu) c.241C>G (p.Gln81Glu) | dbSNP gnomAD v4 |
| 5 | g.42694936C>T | CA359695022 | GHR | c.286C>T (p.Gln96Ter) c.220C>T (p.Gln74Ter) c.156C>T (p.Leu52=) c.307C>T (p.Gln103Ter) c.241C>T (p.Gln81Ter) | |
| 5 | g.42694937A>C | CA359695023 | GHR | c.287A>C (p.Gln96Pro) c.221A>C (p.Gln74Pro) c.157A>C (p.Lys53Gln) c.308A>C (p.Gln103Pro) c.242A>C (p.Gln81Pro) | |
| 5 | g.42694937A>G | CA359695024 | GHR | c.287A>G (p.Gln96Arg) c.221A>G (p.Gln74Arg) c.157A>G (p.Lys53Glu) c.308A>G (p.Gln103Arg) c.242A>G (p.Gln81Arg) | gnomAD v4 |
| 5 | g.42694937A>T | CA359695025 | GHR | c.287A>T (p.Gln96Leu) c.221A>T (p.Gln74Leu) c.157A>T (p.Lys53Ter) c.308A>T (p.Gln103Leu) c.242A>T (p.Gln81Leu) | |
| 5 | g.42694938A= | CA1542287755 | GHR | c.288A= (p.Gln96=) c.222A= (p.Gln74=) c.158A= (p.Lys53=) c.309A= (p.Gln103=) c.243A= (p.Gln81=) | |
| 5 | g.42694938A>C | CA359695026 | GHR | c.288A>C (p.Gln96His) c.222A>C (p.Gln74His) c.158A>C (p.Lys53Thr) c.309A>C (p.Gln103His) c.243A>C (p.Gln81His) | |
| 5 | g.42694938A>G | CA443840337 | GHR | c.288A>G (p.Gln96=) c.222A>G (p.Gln74=) c.158A>G (p.Lys53Arg) c.309A>G (p.Gln103=) c.243A>G (p.Gln81=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.42694938A>T | CA359695027 | GHR | c.288A>T (p.Gln96His) c.222A>T (p.Gln74His) c.158A>T (p.Lys53Met) c.309A>T (p.Gln103His) c.243A>T (p.Gln81His) | |
| 5 | g.42694939G>A | CA359695029 | GHR | c.289G>A (p.Glu97Lys) c.223G>A (p.Glu75Lys) c.159G>A (p.Lys53=) c.310G>A (p.Glu104Lys) c.244G>A (p.Glu82Lys) | ClinVar gnomAD v4 |
| 5 | g.42694939G>C | CA359695030 | GHR | c.289G>C (p.Glu97Gln) c.223G>C (p.Glu75Gln) c.159G>C (p.Lys53Asn) c.310G>C (p.Glu104Gln) c.244G>C (p.Glu82Gln) | |
| 5 | g.42694939G>T | CA359695028 | GHR | c.289G>T (p.Glu97Ter) c.223G>T (p.Glu75Ter) c.159G>T (p.Lys53Asn) c.310G>T (p.Glu104Ter) c.244G>T (p.Glu82Ter) | |
| 5 | g.42694940A>C | CA359695031 | GHR | c.290A>C (p.Glu97Ala) c.224A>C (p.Glu75Ala) c.160A>C (p.Asn54His) c.311A>C (p.Glu104Ala) c.245A>C (p.Glu82Ala) | |
| 5 | g.42694940A>G | CA359695032 | GHR | c.290A>G (p.Glu97Gly) c.224A>G (p.Glu75Gly) c.160A>G (p.Asn54Asp) c.311A>G (p.Glu104Gly) c.245A>G (p.Glu82Gly) | |
| 5 | g.42694940A>T | CA359695033 | GHR | c.290A>T (p.Glu97Val) c.224A>T (p.Glu75Val) c.160A>T (p.Asn54Tyr) c.311A>T (p.Glu104Val) c.245A>T (p.Glu82Val) | |
| 5 | g.42694941A>C | CA359695034 | GHR | c.291A>C (p.Glu97Asp) c.225A>C (p.Glu75Asp) c.161A>C (p.Asn54Thr) c.312A>C (p.Glu104Asp) c.246A>C (p.Glu82Asp) | |
| 5 | g.42694941A>G | CA443840364 | GHR | c.291A>G (p.Glu97=) c.225A>G (p.Glu75=) c.161A>G (p.Asn54Ser) c.312A>G (p.Glu104=) c.246A>G (p.Glu82=) | |
| 5 | g.42694941A>T | CA359695035 | GHR | c.291A>T (p.Glu97Asp) c.225A>T (p.Glu75Asp) c.161A>T (p.Asn54Ile) c.312A>T (p.Glu104Asp) c.246A>T (p.Glu82Asp) | |
| 5 | g.42694942T>A | CA359695036 | GHR | c.292T>A (p.Trp98Arg) c.226T>A (p.Trp76Arg) c.162T>A (p.Asn54Lys) c.313T>A (p.Trp105Arg) c.247T>A (p.Trp83Arg) | |
| 5 | g.42694942T>C | CA359695037 | GHR | c.292T>C (p.Trp98Arg) c.226T>C (p.Trp76Arg) c.162T>C (p.Asn54=) c.313T>C (p.Trp105Arg) c.247T>C (p.Trp83Arg) | |
| 5 | g.42694942T>G | CA359695038 | GHR | c.292T>G (p.Trp98Gly) c.226T>G (p.Trp76Gly) c.162T>G (p.Asn54Lys) c.313T>G (p.Trp105Gly) c.247T>G (p.Trp83Gly) | |
| 5 | g.42694943G>A | CA359695039 | GHR | c.293G>A (p.Trp98Ter) c.227G>A (p.Trp76Ter) c.163G>A (p.Gly55Arg) c.314G>A (p.Trp105Ter) c.248G>A (p.Trp83Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42694943G>C | CA359695040 | GHR | c.293G>C (p.Trp98Ser) c.227G>C (p.Trp76Ser) c.163G>C (p.Gly55Arg) c.314G>C (p.Trp105Ser) c.248G>C (p.Trp83Ser) | |
| 5 | g.42694943G= | CA1542287760 | GHR | c.293G= (p.Trp98=) c.227G= (p.Trp76=) c.163G= (p.Gly55=) c.314G= (p.Trp105=) c.248G= (p.Trp83=) | |
| 5 | g.42694943G>T | CA359695041 | GHR | c.293G>T (p.Trp98Leu) c.227G>T (p.Trp76Leu) c.163G>T (p.Gly55Ter) c.314G>T (p.Trp105Leu) c.248G>T (p.Trp83Leu) | |
| 5 | g.42694944G>A | CA359695042 | GHR | c.294G>A (p.Trp98Ter) c.228G>A (p.Trp76Ter) c.164G>A (p.Gly55Glu) c.315G>A (p.Trp105Ter) c.249G>A (p.Trp83Ter) | |
| 5 | g.42694944G>C | CA359695043 | GHR | c.294G>C (p.Trp98Cys) c.228G>C (p.Trp76Cys) c.164G>C (p.Gly55Ala) c.315G>C (p.Trp105Cys) c.249G>C (p.Trp83Cys) | |
| 5 | g.42694944G>T | CA359695044 | GHR | c.294G>T (p.Trp98Cys) c.228G>T (p.Trp76Cys) c.164G>T (p.Gly55Val) c.315G>T (p.Trp105Cys) c.249G>T (p.Trp83Cys) | gnomAD v4 |
| 5 | g.42694945A= | CA1542287766 | GHR | c.295A= (p.Lys99=) c.229A= (p.Lys77=) c.165A= (p.Gly55=) c.316A= (p.Lys106=) c.250A= (p.Lys84=) | |
| 5 | g.42694945A>C | CA359695047 | GHR | c.295A>C (p.Lys99Gln) c.229A>C (p.Lys77Gln) c.165A>C (p.Gly55=) c.316A>C (p.Lys106Gln) c.250A>C (p.Lys84Gln) | |
| 5 | g.42694945A>G | CA359695046 | GHR | c.295A>G (p.Lys99Glu) c.229A>G (p.Lys77Glu) c.165A>G (p.Gly55=) c.316A>G (p.Lys106Glu) c.250A>G (p.Lys84Glu) | dbSNP |
| 5 | g.42694945A>T | CA359695045 | GHR | c.295A>T (p.Lys99Ter) c.229A>T (p.Lys77Ter) c.165A>T (p.Gly55=) c.316A>T (p.Lys106Ter) c.250A>T (p.Lys84Ter) | |
| 5 | g.42694946A>C | CA359695048 | GHR | c.296A>C (p.Lys99Thr) c.230A>C (p.Lys77Thr) c.166A>C (p.Lys56Gln) c.317A>C (p.Lys106Thr) c.251A>C (p.Lys84Thr) | |
| 5 | g.42694946A>G | CA359695049 | GHR | c.296A>G (p.Lys99Arg) c.230A>G (p.Lys77Arg) c.166A>G (p.Lys56Glu) c.317A>G (p.Lys106Arg) c.251A>G (p.Lys84Arg) | gnomAD v4 |
| 5 | g.42694946A>T | CA359695050 | GHR | c.296A>T (p.Lys99Ile) c.230A>T (p.Lys77Ile) c.166A>T (p.Lys56Ter) c.317A>T (p.Lys106Ile) c.251A>T (p.Lys84Ile) | |
| 5 | g.42694947A>C | CA359695051 | GHR | c.297A>C (p.Lys99Asn) c.231A>C (p.Lys77Asn) c.167A>C (p.Lys56Thr) c.318A>C (p.Lys106Asn) c.252A>C (p.Lys84Asn) | |
| 5 | g.42694947A>G | CA443840407 | GHR | c.297A>G (p.Lys99=) c.231A>G (p.Lys77=) c.167A>G (p.Lys56Arg) c.318A>G (p.Lys106=) c.252A>G (p.Lys84=) | gnomAD v4 |
| 5 | g.42694947A>T | CA359695052 | GHR | c.297A>T (p.Lys99Asn) c.231A>T (p.Lys77Asn) c.167A>T (p.Lys56Met) c.318A>T (p.Lys106Asn) c.252A>T (p.Lys84Asn) | |
| 5 | g.42694948G>A | CA359695053 | GHR | c.298G>A (p.Glu100Lys) c.232G>A (p.Glu78Lys) c.168G>A (p.Lys56=) c.319G>A (p.Glu107Lys) c.253G>A (p.Glu85Lys) | COSMIC |
| 5 | g.42694948G>C | CA359695054 | GHR | c.298G>C (p.Glu100Gln) c.232G>C (p.Glu78Gln) c.168G>C (p.Lys56Asn) c.319G>C (p.Glu107Gln) c.253G>C (p.Glu85Gln) | gnomAD v4 |
| 5 | g.42694948G>T | CA359695055 | GHR | c.298G>T (p.Glu100Ter) c.232G>T (p.Glu78Ter) c.168G>T (p.Lys56Asn) c.319G>T (p.Glu107Ter) c.253G>T (p.Glu85Ter) | |
| 5 | g.42694949A>C | CA359695056 | GHR | c.299A>C (p.Glu100Ala) c.233A>C (p.Glu78Ala) c.169A>C (p.Asn57His) c.320A>C (p.Glu107Ala) c.254A>C (p.Glu85Ala) | |
| 5 | g.42694949A>G | CA359695057 | GHR | c.299A>G (p.Glu100Gly) c.233A>G (p.Glu78Gly) c.169A>G (p.Asn57Asp) c.320A>G (p.Glu107Gly) c.254A>G (p.Glu85Gly) | |
| 5 | g.42694949A>T | CA359695058 | GHR | c.299A>T (p.Glu100Val) c.233A>T (p.Glu78Val) c.169A>T (p.Asn57Tyr) c.320A>T (p.Glu107Val) c.254A>T (p.Glu85Val) | |
| 5 | g.42694950A>C | CA359695059 | GHR | c.300A>C (p.Glu100Asp) c.234A>C (p.Glu78Asp) c.170A>C (p.Asn57Thr) c.321A>C (p.Glu107Asp) c.255A>C (p.Glu85Asp) | |
| 5 | g.42694950A>G | CA443840427 | GHR | c.300A>G (p.Glu100=) c.234A>G (p.Glu78=) c.170A>G (p.Asn57Ser) c.321A>G (p.Glu107=) c.255A>G (p.Glu85=) | gnomAD v4 |
| 5 | g.42694950A>T | CA359695060 | GHR | c.300A>T (p.Glu100Asp) c.234A>T (p.Glu78Asp) c.170A>T (p.Asn57Ile) c.321A>T (p.Glu107Asp) c.255A>T (p.Glu85Asp) | |
| 5 | g.42694951T>A | CA359695061 | GHR | c.301T>A (p.Cys101Ser) c.235T>A (p.Cys79Ser) c.171T>A (p.Asn57Lys) c.322T>A (p.Cys108Ser) c.256T>A (p.Cys86Ser) | |
| 5 | g.42694951T>C | CA359695063 | GHR | c.301T>C (p.Cys101Arg) c.235T>C (p.Cys79Arg) c.171T>C (p.Asn57=) c.322T>C (p.Cys108Arg) c.256T>C (p.Cys86Arg) | gnomAD v4 |
| 5 | g.42694951T>G | CA359695062 | GHR | c.301T>G (p.Cys101Gly) c.235T>G (p.Cys79Gly) c.171T>G (p.Asn57Lys) c.322T>G (p.Cys108Gly) c.256T>G (p.Cys86Gly) | |
| 5 | g.42694952G>A | CA359695064 | GHR | c.302G>A (p.Cys101Tyr) c.236G>A (p.Cys79Tyr) c.172G>A (p.Ala58Thr) c.323G>A (p.Cys108Tyr) c.257G>A (p.Cys86Tyr) | |
| 5 | g.42694952G>C | CA359695066 | GHR | c.302G>C (p.Cys101Ser) c.236G>C (p.Cys79Ser) c.172G>C (p.Ala58Pro) c.323G>C (p.Cys108Ser) c.257G>C (p.Cys86Ser) | |
| 5 | g.42694952G>T | CA359695065 | GHR | c.302G>T (p.Cys101Phe) c.236G>T (p.Cys79Phe) c.172G>T (p.Ala58Ser) c.323G>T (p.Cys108Phe) c.257G>T (p.Cys86Phe) | |
| 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=) |