Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.42711291C>A | CA443847861 | GHR | c.703C>A (p.Arg235=) c.637C>A (p.Arg213=) c.*315C>A (n.*315C>A) c.724C>A (p.Arg242=) c.658C>A (p.Arg220=) | |
5 | g.42711291C= | CA1542304857 | GHR | c.703C= (p.Arg235=) c.637C= (p.Arg213=) c.*315C= (n.*315C=) c.724C= (p.Arg242=) c.658C= (p.Arg220=) | |
5 | g.42711291C>G | CA359695962 | GHR | c.703C>G (p.Arg235Gly) c.637C>G (p.Arg213Gly) c.*315C>G (n.*315C>G) c.724C>G (p.Arg242Gly) c.658C>G (p.Arg220Gly) | |
5 | g.42711291C>T | CA119802 | GHR | c.703C>T (p.Arg235Ter) c.637C>T (p.Arg213Ter) c.*315C>T (n.*315C>T) c.724C>T (p.Arg242Ter) c.658C>T (p.Arg220Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711292G>A | CA118049495 | GHR | c.704G>A (p.Arg235Gln) c.638G>A (p.Arg213Gln) c.*316G>A (n.*316G>A) c.725G>A (p.Arg242Gln) c.659G>A (p.Arg220Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.42711292G>C | CA359695963 | GHR | c.704G>C (p.Arg235Pro) c.638G>C (p.Arg213Pro) c.*316G>C (n.*316G>C) c.725G>C (p.Arg242Pro) c.659G>C (p.Arg220Pro) | |
5 | g.42711292G= | CA1542304861 | GHR | c.704G= (p.Arg235=) c.638G= (p.Arg213=) c.*316G= (n.*316G=) c.725G= (p.Arg242=) c.659G= (p.Arg220=) | |
5 | g.42711292G>T | CA359695964 | GHR | c.704G>T (p.Arg235Leu) c.638G>T (p.Arg213Leu) c.*316G>T (n.*316G>T) c.725G>T (p.Arg242Leu) c.659G>T (p.Arg220Leu) | |
5 | g.42711293A= | CA1542304865 | GHR | c.705A= (p.Arg235=) c.639A= (p.Arg213=) c.*317A= (n.*317A=) c.726A= (p.Arg242=) c.660A= (p.Arg220=) | |
5 | g.42711293A>C | CA118049496 | GHR | c.705A>C (p.Arg235=) c.639A>C (p.Arg213=) c.*317A>C (n.*317A>C) c.726A>C (p.Arg242=) c.660A>C (p.Arg220=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711293A>G | CA443847867 | GHR | c.705A>G (p.Arg235=) c.639A>G (p.Arg213=) c.*317A>G (n.*317A>G) c.726A>G (p.Arg242=) c.660A>G (p.Arg220=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711293A>T | CA443847868 | GHR | c.705A>T (p.Arg235=) c.639A>T (p.Arg213=) c.*317A>T (n.*317A>T) c.726A>T (p.Arg242=) c.660A>T (p.Arg220=) | |
5 | g.42711295dup | CA2596186867 | GHR | c.707dup (p.Asn236LysfsTer10) c.641dup (p.Asn214LysfsTer10) c.*319dup (n.*319dup) c.728dup (p.Asn243LysfsTer10) c.662dup (p.Asn221LysfsTer10) | gnomAD v3 gnomAD v4 |
5 | g.42711295del | CA559293442 | GHR | c.707del (p.Asn236ThrfsTer14) c.641del (p.Asn214ThrfsTer14) c.*319del (n.*319del) c.728del (p.Asn243ThrfsTer14) c.662del (p.Asn221ThrfsTer14) | gnomAD v2 gnomAD v4 |
5 | g.42711294A>C | CA359695965 | GHR | c.706A>C (p.Asn236His) c.640A>C (p.Asn214His) c.*318A>C (n.*318A>C) c.727A>C (p.Asn243His) c.661A>C (p.Asn221His) | |
5 | g.42711294A>G | CA359695967 | GHR | c.706A>G (p.Asn236Asp) c.640A>G (p.Asn214Asp) c.*318A>G (n.*318A>G) c.727A>G (p.Asn243Asp) c.661A>G (p.Asn221Asp) | |
5 | g.42711294A>T | CA359695966 | GHR | c.706A>T (p.Asn236Tyr) c.640A>T (p.Asn214Tyr) c.*318A>T (n.*318A>T) c.727A>T (p.Asn243Tyr) c.661A>T (p.Asn221Tyr) | |
5 | g.42711295A>C | CA359695968 | GHR | c.707A>C (p.Asn236Thr) c.641A>C (p.Asn214Thr) c.*319A>C (n.*319A>C) c.728A>C (p.Asn243Thr) c.662A>C (p.Asn221Thr) | COSMIC |
5 | g.42711295A>G | CA359695969 | GHR | c.707A>G (p.Asn236Ser) c.641A>G (p.Asn214Ser) c.*319A>G (n.*319A>G) c.728A>G (p.Asn243Ser) c.662A>G (p.Asn221Ser) | |
5 | g.42711295A>T | CA359695970 | GHR | c.707A>T (p.Asn236Ile) c.641A>T (p.Asn214Ile) c.*319A>T (n.*319A>T) c.728A>T (p.Asn243Ile) c.662A>T (p.Asn221Ile) | |
5 | g.42711296C>A | CA359695971 | GHR | c.708C>A (p.Asn236Lys) c.642C>A (p.Asn214Lys) c.*320C>A (n.*320C>A) c.729C>A (p.Asn243Lys) c.663C>A (p.Asn221Lys) | |
5 | g.42711296C>G | CA359695972 | GHR | c.708C>G (p.Asn236Lys) c.642C>G (p.Asn214Lys) c.*320C>G (n.*320C>G) c.729C>G (p.Asn243Lys) c.663C>G (p.Asn221Lys) | |
5 | g.42711296C>T | CA443847877 | GHR | c.708C>T (p.Asn236=) c.642C>T (p.Asn214=) c.*320C>T (n.*320C>T) c.729C>T (p.Asn243=) c.663C>T (p.Asn221=) | |
5 | g.42711297T>A | CA359695973 | GHR | c.709T>A (p.Ser237Thr) c.643T>A (p.Ser215Thr) c.*321T>A (n.*321T>A) c.730T>A (p.Ser244Thr) c.664T>A (p.Ser222Thr) | |
5 | g.42711297T>C | CA359695974 | GHR | c.709T>C (p.Ser237Pro) c.643T>C (p.Ser215Pro) c.*321T>C (n.*321T>C) c.730T>C (p.Ser244Pro) c.664T>C (p.Ser222Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711297T>G | CA359695975 | GHR | c.709T>G (p.Ser237Ala) c.643T>G (p.Ser215Ala) c.*321T>G (n.*321T>G) c.730T>G (p.Ser244Ala) c.664T>G (p.Ser222Ala) | |
5 | g.42711297T= | CA1542304873 | GHR | c.709T= (p.Ser237=) c.643T= (p.Ser215=) c.*321T= (n.*321T=) c.730T= (p.Ser244=) c.664T= (p.Ser222=) | |
5 | g.42711298C>A | CA359695976 | GHR | c.710C>A (p.Ser237Tyr) c.644C>A (p.Ser215Tyr) c.*322C>A (n.*322C>A) c.731C>A (p.Ser244Tyr) c.665C>A (p.Ser222Tyr) | |
5 | g.42711298C>G | CA359695977 | GHR | c.710C>G (p.Ser237Cys) c.644C>G (p.Ser215Cys) c.*322C>G (n.*322C>G) c.731C>G (p.Ser244Cys) c.665C>G (p.Ser222Cys) | |
5 | g.42711298C>T | CA359695978 | GHR | c.710C>T (p.Ser237Phe) c.644C>T (p.Ser215Phe) c.*322C>T (n.*322C>T) c.731C>T (p.Ser244Phe) c.665C>T (p.Ser222Phe) | |
5 | g.42711299T>A | CA443847891 | GHR | c.711T>A (p.Ser237=) c.645T>A (p.Ser215=) c.*323T>A (n.*323T>A) c.732T>A (p.Ser244=) c.666T>A (p.Ser222=) | |
5 | g.42711299T>C | CA443847889 | GHR | c.711T>C (p.Ser237=) c.645T>C (p.Ser215=) c.*323T>C (n.*323T>C) c.732T>C (p.Ser244=) c.666T>C (p.Ser222=) | |
5 | g.42711299T>G | CA443847887 | GHR | c.711T>G (p.Ser237=) c.645T>G (p.Ser215=) c.*323T>G (n.*323T>G) c.732T>G (p.Ser244=) c.666T>G (p.Ser222=) | |
5 | g.42711300G>A | CA359695981 | GHR | c.712G>A (p.Gly238Arg) c.646G>A (p.Gly216Arg) c.*324G>A (n.*324G>A) c.733G>A (p.Gly245Arg) c.667G>A (p.Gly223Arg) | |
5 | g.42711300G>C | CA359695979 | GHR | c.712G>C (p.Gly238Arg) c.646G>C (p.Gly216Arg) c.*324G>C (n.*324G>C) c.733G>C (p.Gly245Arg) c.667G>C (p.Gly223Arg) | |
5 | g.42711300G>T | CA359695980 | GHR | c.712G>T (p.Gly238Ter) c.646G>T (p.Gly216Ter) c.*324G>T (n.*324G>T) c.733G>T (p.Gly245Ter) c.667G>T (p.Gly223Ter) | |
5 | g.42711301G>A | CA359695982 | GHR | c.713G>A (p.Gly238Glu) c.647G>A (p.Gly216Glu) c.*325G>A (n.*325G>A) c.734G>A (p.Gly245Glu) c.668G>A (p.Gly223Glu) | COSMIC |
5 | g.42711301G>C | CA359695983 | GHR | c.713G>C (p.Gly238Ala) c.647G>C (p.Gly216Ala) c.*325G>C (n.*325G>C) c.734G>C (p.Gly245Ala) c.668G>C (p.Gly223Ala) | |
5 | g.42711301G>T | CA359695984 | GHR | c.713G>T (p.Gly238Val) c.647G>T (p.Gly216Val) c.*325G>T (n.*325G>T) c.734G>T (p.Gly245Val) c.668G>T (p.Gly223Val) | |
5 | g.42711302A>C | CA443847898 | GHR | c.714A>C (p.Gly238=) c.648A>C (p.Gly216=) c.*326A>C (n.*326A>C) c.735A>C (p.Gly245=) c.669A>C (p.Gly223=) | |
5 | g.42711302A>G | CA443847902 | GHR | c.714A>G (p.Gly238=) c.648A>G (p.Gly216=) c.*326A>G (n.*326A>G) c.735A>G (p.Gly245=) c.669A>G (p.Gly223=) | |
5 | g.42711302A>T | CA443847900 | GHR | c.714A>T (p.Gly238=) c.648A>T (p.Gly216=) c.*326A>T (n.*326A>T) c.735A>T (p.Gly245=) c.669A>T (p.Gly223=) | |
5 | g.42711303A>C | CA359695985 | GHR | c.715A>C (p.Asn239His) c.649A>C (p.Asn217His) c.*327A>C (n.*327A>C) c.736A>C (p.Asn246His) c.670A>C (p.Asn224His) | |
5 | g.42711303A>G | CA359695986 | GHR | c.715A>G (p.Asn239Asp) c.649A>G (p.Asn217Asp) c.*327A>G (n.*327A>G) c.736A>G (p.Asn246Asp) c.670A>G (p.Asn224Asp) | |
5 | g.42711303A>T | CA359695987 | GHR | c.715A>T (p.Asn239Tyr) c.649A>T (p.Asn217Tyr) c.*327A>T (n.*327A>T) c.736A>T (p.Asn246Tyr) c.670A>T (p.Asn224Tyr) | |
5 | g.42711304A>C | CA359695988 | GHR | c.716A>C (p.Asn239Thr) c.650A>C (p.Asn217Thr) c.*328A>C (n.*328A>C) c.737A>C (p.Asn246Thr) c.671A>C (p.Asn224Thr) | |
5 | g.42711304A>G | CA359695989 | GHR | c.716A>G (p.Asn239Ser) c.650A>G (p.Asn217Ser) c.*328A>G (n.*328A>G) c.737A>G (p.Asn246Ser) c.671A>G (p.Asn224Ser) | |
5 | g.42711304A>T | CA359695990 | GHR | c.716A>T (p.Asn239Ile) c.650A>T (p.Asn217Ile) c.*328A>T (n.*328A>T) c.737A>T (p.Asn246Ile) c.671A>T (p.Asn224Ile) | |
5 | g.42711305T>A | CA359695991 | GHR | c.717T>A (p.Asn239Lys) c.651T>A (p.Asn217Lys) c.*329T>A (n.*329T>A) c.738T>A (p.Asn246Lys) c.672T>A (p.Asn224Lys) | |
5 | g.42711305T>C | CA443847910 | GHR | c.717T>C (p.Asn239=) c.651T>C (p.Asn217=) c.*329T>C (n.*329T>C) c.738T>C (p.Asn246=) c.672T>C (p.Asn224=) | |
5 | g.42711305T>G | CA359695992 | GHR | c.717T>G (p.Asn239Lys) c.651T>G (p.Asn217Lys) c.*329T>G (n.*329T>G) c.738T>G (p.Asn246Lys) c.672T>G (p.Asn224Lys) | |
5 | g.42711306T>A | CA359695994 | GHR | c.718T>A (p.Tyr240Asn) c.652T>A (p.Tyr218Asn) c.*330T>A (n.*330T>A) c.739T>A (p.Tyr247Asn) c.673T>A (p.Tyr225Asn) | |
5 | g.42711306T>C | CA247036 | GHR | c.718T>C (p.Tyr240His) c.652T>C (p.Tyr218His) c.*330T>C (n.*330T>C) c.739T>C (p.Tyr247His) c.673T>C (p.Tyr225His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711306T>G | CA359695993 | GHR | c.718T>G (p.Tyr240Asp) c.652T>G (p.Tyr218Asp) c.*330T>G (n.*330T>G) c.739T>G (p.Tyr247Asp) c.673T>G (p.Tyr225Asp) | |
5 | g.42711306T= | CA1542304880 | GHR | c.718T= (p.Tyr240=) c.652T= (p.Tyr218=) c.*330T= (n.*330T=) c.739T= (p.Tyr247=) c.673T= (p.Tyr225=) | |
5 | g.42711307A= | CA1542304883 | GHR | c.719A= (p.Tyr240=) c.653A= (p.Tyr218=) c.*331A= (n.*331A=) c.740A= (p.Tyr247=) c.674A= (p.Tyr225=) | |
5 | g.42711307A>C | CA359695997 | GHR | c.719A>C (p.Tyr240Ser) c.653A>C (p.Tyr218Ser) c.*331A>C (n.*331A>C) c.740A>C (p.Tyr247Ser) c.674A>C (p.Tyr225Ser) | |
5 | g.42711307A>G | CA359695995 | GHR | c.719A>G (p.Tyr240Cys) c.653A>G (p.Tyr218Cys) c.*331A>G (n.*331A>G) c.740A>G (p.Tyr247Cys) c.674A>G (p.Tyr225Cys) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42711307A>T | CA359695996 | GHR | c.719A>T (p.Tyr240Phe) c.653A>T (p.Tyr218Phe) c.*331A>T (n.*331A>T) c.740A>T (p.Tyr247Phe) c.674A>T (p.Tyr225Phe) | |
5 | g.42711308T>A | CA359695998 | GHR | c.720T>A (p.Tyr240Ter) c.654T>A (p.Tyr218Ter) c.*332T>A (n.*332T>A) c.741T>A (p.Tyr247Ter) c.675T>A (p.Tyr225Ter) | |
5 | g.42711308T>C | CA443847922 | GHR | c.720T>C (p.Tyr240=) c.654T>C (p.Tyr218=) c.*332T>C (n.*332T>C) c.741T>C (p.Tyr247=) c.675T>C (p.Tyr225=) | gnomAD v4 |
5 | g.42711308T>G | CA359695999 | GHR | c.720T>G (p.Tyr240Ter) c.654T>G (p.Tyr218Ter) c.*332T>G (n.*332T>G) c.741T>G (p.Tyr247Ter) c.675T>G (p.Tyr225Ter) | |
5 | g.42711309G>A | CA359696000 | GHR | c.721G>A (p.Gly241Ser) c.655G>A (p.Gly219Ser) c.*333G>A (n.*333G>A) c.742G>A (p.Gly248Ser) c.676G>A (p.Gly226Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711309G>C | CA359696001 | GHR | c.721G>C (p.Gly241Arg) c.655G>C (p.Gly219Arg) c.*333G>C (n.*333G>C) c.742G>C (p.Gly248Arg) c.676G>C (p.Gly226Arg) | dbSNP |
5 | g.42711309G= | CA1542304887 | GHR | c.721G= (p.Gly241=) c.655G= (p.Gly219=) c.*333G= (n.*333G=) c.742G= (p.Gly248=) c.676G= (p.Gly226=) | |
5 | g.42711309G>T | CA359696002 | GHR | c.721G>T (p.Gly241Cys) c.655G>T (p.Gly219Cys) c.*333G>T (n.*333G>T) c.742G>T (p.Gly248Cys) c.676G>T (p.Gly226Cys) | |
5 | g.42711310G>A | CA359696003 | GHR | c.722G>A (p.Gly241Asp) c.656G>A (p.Gly219Asp) c.*334G>A (n.*334G>A) c.743G>A (p.Gly248Asp) c.677G>A (p.Gly226Asp) | |
5 | g.42711310G>C | CA359696004 | GHR | c.722G>C (p.Gly241Ala) c.656G>C (p.Gly219Ala) c.*334G>C (n.*334G>C) c.743G>C (p.Gly248Ala) c.677G>C (p.Gly226Ala) | |
5 | g.42711310G>T | CA359696005 | GHR | c.722G>T (p.Gly241Val) c.656G>T (p.Gly219Val) c.*334G>T (n.*334G>T) c.743G>T (p.Gly248Val) c.677G>T (p.Gly226Val) | gnomAD v4 |
5 | g.42711311C>A | CA443847931 | GHR | c.723C>A (p.Gly241=) c.657C>A (p.Gly219=) c.*335C>A (n.*335C>A) c.744C>A (p.Gly248=) c.678C>A (p.Gly226=) | ClinVar dbSNP gnomAD v4 |
5 | g.42711311C= | CA1542304892 | GHR | c.723C= (p.Gly241=) c.657C= (p.Gly219=) c.*335C= (n.*335C=) c.744C= (p.Gly248=) c.678C= (p.Gly226=) | |
5 | g.42711311C>G | CA443847933 | GHR | c.723C>G (p.Gly241=) c.657C>G (p.Gly219=) c.*335C>G (n.*335C>G) c.744C>G (p.Gly248=) c.678C>G (p.Gly226=) | |
5 | g.42711311C>T | CA443847935 | GHR | c.723C>T (p.Gly241=) c.657C>T (p.Gly219=) c.*335C>T (n.*335C>T) c.744C>T (p.Gly248=) c.678C>T (p.Gly226=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.42711312G>A | CA3254478 | GHR | c.724G>A (p.Glu242Lys) c.658G>A (p.Glu220Lys) c.*336G>A (n.*336G>A) c.745G>A (p.Glu249Lys) c.679G>A (p.Glu227Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711312G>C | CA359696006 | GHR | c.724G>C (p.Glu242Gln) c.658G>C (p.Glu220Gln) c.*336G>C (n.*336G>C) c.745G>C (p.Glu249Gln) c.679G>C (p.Glu227Gln) | |
5 | g.42711312G= | CA1542304897 | GHR | c.724G= (p.Glu242=) c.658G= (p.Glu220=) c.*336G= (n.*336G=) c.745G= (p.Glu249=) c.679G= (p.Glu227=) | |
5 | g.42711312G>T | CA119805 | GHR | c.724G>T (p.Glu242Ter) c.658G>T (p.Glu220Ter) c.*336G>T (n.*336G>T) c.745G>T (p.Glu249Ter) c.679G>T (p.Glu227Ter) | ClinVar dbSNP |
5 | g.42711313A>C | CA359696007 | GHR | c.725A>C (p.Glu242Ala) c.659A>C (p.Glu220Ala) c.*337A>C (n.*337A>C) c.746A>C (p.Glu249Ala) c.680A>C (p.Glu227Ala) | |
5 | g.42711313A>G | CA359696009 | GHR | c.725A>G (p.Glu242Gly) c.659A>G (p.Glu220Gly) c.*337A>G (n.*337A>G) c.746A>G (p.Glu249Gly) c.680A>G (p.Glu227Gly) | |
5 | g.42711313A>T | CA359696008 | GHR | c.725A>T (p.Glu242Val) c.659A>T (p.Glu220Val) c.*337A>T (n.*337A>T) c.746A>T (p.Glu249Val) c.680A>T (p.Glu227Val) | |
5 | g.42711314G>A | CA443847944 | GHR | c.726G>A (p.Glu242=) c.660G>A (p.Glu220=) c.*338G>A (n.*338G>A) c.747G>A (p.Glu249=) c.681G>A (p.Glu227=) | ClinVar |
5 | g.42711314G>C | CA119800 | GHR | c.726G>C (p.Glu242Asp) c.660G>C (p.Glu220Asp) c.*338G>C (n.*338G>C) c.747G>C (p.Glu249Asp) c.681G>C (p.Glu227Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711314G= | CA1542304912 | GHR | c.726G= (p.Glu242=) c.660G= (p.Glu220=) c.*338G= (n.*338G=) c.747G= (p.Glu249=) c.681G= (p.Glu227=) | |
5 | g.42711314G>T | CA359696010 | GHR | c.726G>T (p.Glu242Asp) c.660G>T (p.Glu220Asp) c.*338G>T (n.*338G>T) c.747G>T (p.Glu249Asp) c.681G>T (p.Glu227Asp) | |
5 | g.42711315T>A | CA359696011 | GHR | c.727T>A (p.Phe243Ile) c.661T>A (p.Phe221Ile) c.*339T>A (n.*339T>A) c.748T>A (p.Phe250Ile) c.682T>A (p.Phe228Ile) | |
5 | g.42711315T>C | CA359696012 | GHR | c.727T>C (p.Phe243Leu) c.661T>C (p.Phe221Leu) c.*339T>C (n.*339T>C) c.748T>C (p.Phe250Leu) c.682T>C (p.Phe228Leu) | |
5 | g.42711315T>G | CA359696013 | GHR | c.727T>G (p.Phe243Val) c.661T>G (p.Phe221Val) c.*339T>G (n.*339T>G) c.748T>G (p.Phe250Val) c.682T>G (p.Phe228Val) | |
5 | g.42711316T>A | CA359696014 | GHR | c.728T>A (p.Phe243Tyr) c.662T>A (p.Phe221Tyr) c.*340T>A (n.*340T>A) c.749T>A (p.Phe250Tyr) c.683T>A (p.Phe228Tyr) | |
5 | g.42711316T>C | CA359696015 | GHR | c.728T>C (p.Phe243Ser) c.662T>C (p.Phe221Ser) c.*340T>C (n.*340T>C) c.749T>C (p.Phe250Ser) c.683T>C (p.Phe228Ser) | |
5 | g.42711316T>G | CA359696016 | GHR | c.728T>G (p.Phe243Cys) c.662T>G (p.Phe221Cys) c.*340T>G (n.*340T>G) c.749T>G (p.Phe250Cys) c.683T>G (p.Phe228Cys) | |
5 | g.42711317C>A | CA359696017 | GHR | c.729C>A (p.Phe243Leu) c.663C>A (p.Phe221Leu) c.*341C>A (n.*341C>A) c.750C>A (p.Phe250Leu) c.684C>A (p.Phe228Leu) | |
5 | g.42711317C>G | CA359696018 | GHR | c.729C>G (p.Phe243Leu) c.663C>G (p.Phe221Leu) c.*341C>G (n.*341C>G) c.750C>G (p.Phe250Leu) c.684C>G (p.Phe228Leu) | |
5 | g.42711317C>T | CA443847953 | GHR | c.729C>T (p.Phe243=) c.663C>T (p.Phe221=) c.*341C>T (n.*341C>T) c.750C>T (p.Phe250=) c.684C>T (p.Phe228=) | |
5 | g.42711318A>C | CA359696020 | GHR | c.730A>C (p.Ser244Arg) c.664A>C (p.Ser222Arg) c.*342A>C (n.*342A>C) c.751A>C (p.Ser251Arg) c.685A>C (p.Ser229Arg) | |
5 | g.42711318A>G | CA359696021 | GHR | c.730A>G (p.Ser244Gly) c.664A>G (p.Ser222Gly) c.*342A>G (n.*342A>G) c.751A>G (p.Ser251Gly) c.685A>G (p.Ser229Gly) | |
5 | g.42711318A>T | CA359696019 | GHR | c.730A>T (p.Ser244Cys) c.664A>T (p.Ser222Cys) c.*342A>T (n.*342A>T) c.751A>T (p.Ser251Cys) c.685A>T (p.Ser229Cys) | |
5 | g.42711319G>A | CA359696022 | GHR | c.731G>A (p.Ser244Asn) c.665G>A (p.Ser222Asn) c.*343G>A (n.*343G>A) c.752G>A (p.Ser251Asn) c.686G>A (p.Ser229Asn) | gnomAD v4 |
5 | g.42711319G>C | CA359696023 | GHR | c.731G>C (p.Ser244Thr) c.665G>C (p.Ser222Thr) c.*343G>C (n.*343G>C) c.752G>C (p.Ser251Thr) c.686G>C (p.Ser229Thr) | |
5 | g.42711319G= | CA1542304915 | GHR | c.731G= (p.Ser244=) c.665G= (p.Ser222=) c.*343G= (n.*343G=) c.752G= (p.Ser251=) c.686G= (p.Ser229=) | |
5 | g.42711319G>T | CA359696024 | GHR | c.731G>T (p.Ser244Ile) c.665G>T (p.Ser222Ile) c.*343G>T (n.*343G>T) c.752G>T (p.Ser251Ile) c.686G>T (p.Ser229Ile) | dbSNP |
5 | g.42711320T>A | CA359696025 | GHR | c.732T>A (p.Ser244Arg) c.666T>A (p.Ser222Arg) c.*344T>A (n.*344T>A) c.753T>A (p.Ser251Arg) c.687T>A (p.Ser229Arg) | |
5 | g.42711320T>C | CA443847964 | GHR | c.732T>C (p.Ser244=) c.666T>C (p.Ser222=) c.*344T>C (n.*344T>C) c.753T>C (p.Ser251=) c.687T>C (p.Ser229=) | |
5 | g.42711320T>G | CA359696026 | GHR | c.732T>G (p.Ser244Arg) c.666T>G (p.Ser222Arg) c.*344T>G (n.*344T>G) c.753T>G (p.Ser251Arg) c.687T>G (p.Ser229Arg) | |
5 | g.42711321G>A | CA3254479 | GHR | c.733G>A (p.Glu245Lys) c.667G>A (p.Glu223Lys) c.*345G>A (n.*345G>A) c.754G>A (p.Glu252Lys) c.688G>A (p.Glu230Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711321G>C | CA359696027 | GHR | c.733G>C (p.Glu245Gln) c.667G>C (p.Glu223Gln) c.*345G>C (n.*345G>C) c.754G>C (p.Glu252Gln) c.688G>C (p.Glu230Gln) | |
5 | g.42711321G= | CA1542304921 | GHR | c.733G= (p.Glu245=) c.667G= (p.Glu223=) c.*345G= (n.*345G=) c.754G= (p.Glu252=) c.688G= (p.Glu230=) | |
5 | g.42711321G>T | CA359696028 | GHR | c.733G>T (p.Glu245Ter) c.667G>T (p.Glu223Ter) c.*345G>T (n.*345G>T) c.754G>T (p.Glu252Ter) c.688G>T (p.Glu230Ter) | |
5 | g.42711322A>C | CA359696029 | GHR | c.734A>C (p.Glu245Ala) c.668A>C (p.Glu223Ala) c.*346A>C (n.*346A>C) c.755A>C (p.Glu252Ala) c.689A>C (p.Glu230Ala) | |
5 | g.42711322A>G | CA359696030 | GHR | c.734A>G (p.Glu245Gly) c.668A>G (p.Glu223Gly) c.*346A>G (n.*346A>G) c.755A>G (p.Glu252Gly) c.689A>G (p.Glu230Gly) | |
5 | g.42711322A>T | CA359696031 | GHR | c.734A>T (p.Glu245Val) c.668A>T (p.Glu223Val) c.*346A>T (n.*346A>T) c.755A>T (p.Glu252Val) c.689A>T (p.Glu230Val) | |
5 | g.42711323G>A | CA443847973 | GHR | c.735G>A (p.Glu245=) c.669G>A (p.Glu223=) c.*347G>A (n.*347G>A) c.756G>A (p.Glu252=) c.690G>A (p.Glu230=) | |
5 | g.42711323G>C | CA359696032 | GHR | c.735G>C (p.Glu245Asp) c.669G>C (p.Glu223Asp) c.*347G>C (n.*347G>C) c.756G>C (p.Glu252Asp) c.690G>C (p.Glu230Asp) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711323G= | CA1542304925 | GHR | c.735G= (p.Glu245=) c.669G= (p.Glu223=) c.*347G= (n.*347G=) c.756G= (p.Glu252=) c.690G= (p.Glu230=) | |
5 | g.42711323G>T | CA359696033 | GHR | c.735G>T (p.Glu245Asp) c.669G>T (p.Glu223Asp) c.*347G>T (n.*347G>T) c.756G>T (p.Glu252Asp) c.690G>T (p.Glu230Asp) | |
5 | g.42711324G>A | CA359696036 | GHR | c.736G>A (p.Val246Met) c.670G>A (p.Val224Met) c.*348G>A (n.*348G>A) c.757G>A (p.Val253Met) c.691G>A (p.Val231Met) | ClinVar dbSNP gnomAD v4 |
5 | g.42711324G>C | CA359696035 | GHR | c.736G>C (p.Val246Leu) c.670G>C (p.Val224Leu) c.*348G>C (n.*348G>C) c.757G>C (p.Val253Leu) c.691G>C (p.Val231Leu) | |
5 | g.42711324G= | CA1542304929 | GHR | c.736G= (p.Val246=) c.670G= (p.Val224=) c.*348G= (n.*348G=) c.757G= (p.Val253=) c.691G= (p.Val231=) | |
5 | g.42711324G>T | CA359696034 | GHR | c.736G>T (p.Val246Leu) c.670G>T (p.Val224Leu) c.*348G>T (n.*348G>T) c.757G>T (p.Val253Leu) c.691G>T (p.Val231Leu) | |
5 | g.42711325T>A | CA359696037 | GHR | c.737T>A (p.Val246Glu) c.671T>A (p.Val224Glu) c.*349T>A (n.*349T>A) c.758T>A (p.Val253Glu) c.692T>A (p.Val231Glu) | |
5 | g.42711325T>C | CA359696038 | GHR | c.737T>C (p.Val246Ala) c.671T>C (p.Val224Ala) c.*349T>C (n.*349T>C) c.758T>C (p.Val253Ala) c.692T>C (p.Val231Ala) | |
5 | g.42711325T>G | CA359696039 | GHR | c.737T>G (p.Val246Gly) c.671T>G (p.Val224Gly) c.*349T>G (n.*349T>G) c.758T>G (p.Val253Gly) c.692T>G (p.Val231Gly) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42711325T= | CA1542304932 | GHR | c.737T= (p.Val246=) c.671T= (p.Val224=) c.*349T= (n.*349T=) c.758T= (p.Val253=) c.692T= (p.Val231=) | |
5 | g.42711326G>A | CA443847981 | GHR | c.738G>A (p.Val246=) c.672G>A (p.Val224=) c.*350G>A (n.*350G>A) c.759G>A (p.Val253=) c.693G>A (p.Val231=) | |
5 | g.42711326G>C | CA443847983 | GHR | c.738G>C (p.Val246=) c.672G>C (p.Val224=) c.*350G>C (n.*350G>C) c.759G>C (p.Val253=) c.693G>C (p.Val231=) | |
5 | g.42711326G= | CA1542304936 | GHR | c.738G= (p.Val246=) c.672G= (p.Val224=) c.*350G= (n.*350G=) c.759G= (p.Val253=) c.693G= (p.Val231=) | |
5 | g.42711326G>T | CA3254480 | GHR | c.738G>T (p.Val246=) c.672G>T (p.Val224=) c.*350G>T (n.*350G>T) c.759G>T (p.Val253=) c.693G>T (p.Val231=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42711326_42711383delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT | CA1542304938 | GHR | c.738_784+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT c.672_718+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT c.*350_*396+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT c.759_805+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT c.693_739+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT | |
5 | g.42711327C>A | CA359696040 | GHR | c.739C>A (p.Leu247Ile) c.673C>A (p.Leu225Ile) c.*351C>A (n.*351C>A) c.760C>A (p.Leu254Ile) c.694C>A (p.Leu232Ile) | |
5 | g.42711327C>G | CA359696041 | GHR | c.739C>G (p.Leu247Val) c.673C>G (p.Leu225Val) c.*351C>G (n.*351C>G) c.760C>G (p.Leu254Val) c.694C>G (p.Leu232Val) | gnomAD v4 |
5 | g.42711327C>T | CA359696042 | GHR | c.739C>T (p.Leu247Phe) c.673C>T (p.Leu225Phe) c.*351C>T (n.*351C>T) c.760C>T (p.Leu254Phe) c.694C>T (p.Leu232Phe) | ClinVar |
5 | g.42711327_42711383del | CA559293443 | GHR | c.739_784+11del c.673_718+11del c.*351_*396+11del c.760_805+11del c.694_739+11del | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711328T>A | CA359696043 | GHR | c.740T>A (p.Leu247His) c.674T>A (p.Leu225His) c.*352T>A (n.*352T>A) c.761T>A (p.Leu254His) c.695T>A (p.Leu232His) | |
5 | g.42711328T>C | CA359696044 | GHR | c.740T>C (p.Leu247Pro) c.674T>C (p.Leu225Pro) c.*352T>C (n.*352T>C) c.761T>C (p.Leu254Pro) c.695T>C (p.Leu232Pro) | gnomAD v4 |
5 | g.42711328T>G | CA359696045 | GHR | c.740T>G (p.Leu247Arg) c.674T>G (p.Leu225Arg) c.*352T>G (n.*352T>G) c.761T>G (p.Leu254Arg) c.695T>G (p.Leu232Arg) | |
5 | g.42711329C>A | CA443847995 | GHR | c.741C>A (p.Leu247=) c.675C>A (p.Leu225=) c.*353C>A (n.*353C>A) c.762C>A (p.Leu254=) c.696C>A (p.Leu232=) | |
5 | g.42711329C= | CA1542304944 | GHR | c.741C= (p.Leu247=) c.675C= (p.Leu225=) c.*353C= (n.*353C=) c.762C= (p.Leu254=) c.696C= (p.Leu232=) | |
5 | g.42711329C>G | CA443847993 | GHR | c.741C>G (p.Leu247=) c.675C>G (p.Leu225=) c.*353C>G (n.*353C>G) c.762C>G (p.Leu254=) c.696C>G (p.Leu232=) | gnomAD v4 |
5 | g.42711329C>T | CA3254481 | GHR | c.741C>T (p.Leu247=) c.675C>T (p.Leu225=) c.*353C>T (n.*353C>T) c.762C>T (p.Leu254=) c.696C>T (p.Leu232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711330T>A | CA359696046 | GHR | c.742T>A (p.Tyr248Asn) c.676T>A (p.Tyr226Asn) c.*354T>A (n.*354T>A) c.763T>A (p.Tyr255Asn) c.697T>A (p.Tyr233Asn) | |
5 | g.42711330T>C | CA3254482 | GHR | c.742T>C (p.Tyr248His) c.676T>C (p.Tyr226His) c.*354T>C (n.*354T>C) c.763T>C (p.Tyr255His) c.697T>C (p.Tyr233His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42711330T>G | CA359696047 | GHR | c.742T>G (p.Tyr248Asp) c.676T>G (p.Tyr226Asp) c.*354T>G (n.*354T>G) c.763T>G (p.Tyr255Asp) c.697T>G (p.Tyr233Asp) | |
5 | g.42711330T= | CA1542304947 | GHR | c.742T= (p.Tyr248=) c.676T= (p.Tyr226=) c.*354T= (n.*354T=) c.763T= (p.Tyr255=) c.697T= (p.Tyr233=) | |
5 | g.42711331_42711332del | CA2580073296 | GHR | c.743_744del (p.Tyr248CysfsTer12) c.677_678del (p.Tyr226CysfsTer12) c.*355_*356del (n.*355_*356del) c.764_765del (p.Tyr255CysfsTer12) c.698_699del (p.Tyr233CysfsTer12) | ClinVar |
5 | g.42711331A= | CA1542304954 | GHR | c.743A= (p.Tyr248=) c.677A= (p.Tyr226=) c.*355A= (n.*355A=) c.764A= (p.Tyr255=) c.698A= (p.Tyr233=) | |
5 | g.42711331A>C | CA359696049 | GHR | c.743A>C (p.Tyr248Ser) c.677A>C (p.Tyr226Ser) c.*355A>C (n.*355A>C) c.764A>C (p.Tyr255Ser) c.698A>C (p.Tyr233Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711331A>G | CA3254483 | GHR | c.743A>G (p.Tyr248Cys) c.677A>G (p.Tyr226Cys) c.*355A>G (n.*355A>G) c.764A>G (p.Tyr255Cys) c.698A>G (p.Tyr233Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711331A>T | CA359696048 | GHR | c.743A>T (p.Tyr248Phe) c.677A>T (p.Tyr226Phe) c.*355A>T (n.*355A>T) c.764A>T (p.Tyr255Phe) c.698A>T (p.Tyr233Phe) | gnomAD v4 COSMIC |
5 | g.42711332del | CA2695204471 | GHR | c.744del (p.Tyr248Ter) c.678del (p.Tyr226Ter) c.*356del (n.*356del) c.765del (p.Tyr255Ter) c.699del (p.Tyr233Ter) | ClinVar |
5 | g.42711332T>A | CA359696050 | GHR | c.744T>A (p.Tyr248Ter) c.678T>A (p.Tyr226Ter) c.*356T>A (n.*356T>A) c.765T>A (p.Tyr255Ter) c.699T>A (p.Tyr233Ter) | |
5 | g.42711332T>C | CA3254484 | GHR | c.744T>C (p.Tyr248=) c.678T>C (p.Tyr226=) c.*356T>C (n.*356T>C) c.765T>C (p.Tyr255=) c.699T>C (p.Tyr233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711332T>G | CA359696051 | GHR | c.744T>G (p.Tyr248Ter) c.678T>G (p.Tyr226Ter) c.*356T>G (n.*356T>G) c.765T>G (p.Tyr255Ter) c.699T>G (p.Tyr233Ter) | dbSNP |
5 | g.42711332T= | CA1542304960 | GHR | c.744T= (p.Tyr248=) c.678T= (p.Tyr226=) c.*356T= (n.*356T=) c.765T= (p.Tyr255=) c.699T= (p.Tyr233=) | |
5 | g.42711333G>A | CA359696052 | GHR | c.745G>A (p.Val249Ile) c.679G>A (p.Val227Ile) c.*357G>A (n.*357G>A) c.766G>A (p.Val256Ile) c.700G>A (p.Val234Ile) | gnomAD v4 |
5 | g.42711333G>C | CA359696053 | GHR | c.745G>C (p.Val249Leu) c.679G>C (p.Val227Leu) c.*357G>C (n.*357G>C) c.766G>C (p.Val256Leu) c.700G>C (p.Val234Leu) | gnomAD v4 |
5 | g.42711333G>T | CA359696054 | GHR | c.745G>T (p.Val249Leu) c.679G>T (p.Val227Leu) c.*357G>T (n.*357G>T) c.766G>T (p.Val256Leu) c.700G>T (p.Val234Leu) | |
5 | g.42711334T>A | CA359696055 | GHR | c.746T>A (p.Val249Glu) c.680T>A (p.Val227Glu) c.*358T>A (n.*358T>A) c.767T>A (p.Val256Glu) c.701T>A (p.Val234Glu) | gnomAD v4 |
5 | g.42711334T>C | CA359696056 | GHR | c.746T>C (p.Val249Ala) c.680T>C (p.Val227Ala) c.*358T>C (n.*358T>C) c.767T>C (p.Val256Ala) c.701T>C (p.Val234Ala) | ClinVar gnomAD v4 |
5 | g.42711334T>G | CA359696057 | GHR | c.746T>G (p.Val249Gly) c.680T>G (p.Val227Gly) c.*358T>G (n.*358T>G) c.767T>G (p.Val256Gly) c.701T>G (p.Val234Gly) | |
5 | g.42711335A>C | CA443848014 | GHR | c.747A>C (p.Val249=) c.681A>C (p.Val227=) c.*359A>C (n.*359A>C) c.768A>C (p.Val256=) c.702A>C (p.Val234=) | |
5 | g.42711335A>G | CA443848015 | GHR | c.747A>G (p.Val249=) c.681A>G (p.Val227=) c.*359A>G (n.*359A>G) c.768A>G (p.Val256=) c.702A>G (p.Val234=) | |
5 | g.42711335A>T | CA443848016 | GHR | c.747A>T (p.Val249=) c.681A>T (p.Val227=) c.*359A>T (n.*359A>T) c.768A>T (p.Val256=) c.702A>T (p.Val234=) | |
5 | g.42711336A= | CA1542304964 | GHR | c.748A= (p.Thr250=) c.682A= (p.Thr228=) c.*360A= (n.*360A=) c.769A= (p.Thr257=) c.703A= (p.Thr235=) | |
5 | g.42711336A>C | CA359696058 | GHR | c.748A>C (p.Thr250Pro) c.682A>C (p.Thr228Pro) c.*360A>C (n.*360A>C) c.769A>C (p.Thr257Pro) c.703A>C (p.Thr235Pro) | |
5 | g.42711336A>G | CA359696059 | GHR | c.748A>G (p.Thr250Ala) c.682A>G (p.Thr228Ala) c.*360A>G (n.*360A>G) c.769A>G (p.Thr257Ala) c.703A>G (p.Thr235Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711336A>T | CA359696060 | GHR | c.748A>T (p.Thr250Ser) c.682A>T (p.Thr228Ser) c.*360A>T (n.*360A>T) c.769A>T (p.Thr257Ser) c.703A>T (p.Thr235Ser) | |
5 | g.42711337C>A | CA359696061 | GHR | c.749C>A (p.Thr250Lys) c.683C>A (p.Thr228Lys) c.*361C>A (n.*361C>A) c.770C>A (p.Thr257Lys) c.704C>A (p.Thr235Lys) | |
5 | g.42711337C>G | CA359696062 | GHR | c.749C>G (p.Thr250Arg) c.683C>G (p.Thr228Arg) c.*361C>G (n.*361C>G) c.770C>G (p.Thr257Arg) c.704C>G (p.Thr235Arg) | |
5 | g.42711337C>T | CA359696063 | GHR | c.749C>T (p.Thr250Ile) c.683C>T (p.Thr228Ile) c.*361C>T (n.*361C>T) c.770C>T (p.Thr257Ile) c.704C>T (p.Thr235Ile) | gnomAD v4 |
5 | g.42711338A>C | CA443848025 | GHR | c.750A>C (p.Thr250=) c.684A>C (p.Thr228=) c.*362A>C (n.*362A>C) c.771A>C (p.Thr257=) c.705A>C (p.Thr235=) | |
5 | g.42711338A>G | CA443848027 | GHR | c.750A>G (p.Thr250=) c.684A>G (p.Thr228=) c.*362A>G (n.*362A>G) c.771A>G (p.Thr257=) c.705A>G (p.Thr235=) | |
5 | g.42711338A>T | CA443848028 | GHR | c.750A>T (p.Thr250=) c.684A>T (p.Thr228=) c.*362A>T (n.*362A>T) c.771A>T (p.Thr257=) c.705A>T (p.Thr235=) | |
5 | g.42711339C>A | CA359696066 | GHR | c.751C>A (p.Leu251Ile) c.685C>A (p.Leu229Ile) c.*363C>A (n.*363C>A) c.772C>A (p.Leu258Ile) c.706C>A (p.Leu236Ile) | |
5 | g.42711339C>G | CA359696065 | GHR | c.751C>G (p.Leu251Val) c.685C>G (p.Leu229Val) c.*363C>G (n.*363C>G) c.772C>G (p.Leu258Val) c.706C>G (p.Leu236Val) | |
5 | g.42711339C>T | CA359696064 | GHR | c.751C>T (p.Leu251Phe) c.685C>T (p.Leu229Phe) c.*363C>T (n.*363C>T) c.772C>T (p.Leu258Phe) c.706C>T (p.Leu236Phe) | |
5 | g.42711340T>A | CA359696067 | GHR | c.752T>A (p.Leu251His) c.686T>A (p.Leu229His) c.*364T>A (n.*364T>A) c.773T>A (p.Leu258His) c.707T>A (p.Leu236His) | |
5 | g.42711340T>C | CA359696068 | GHR | c.752T>C (p.Leu251Pro) c.686T>C (p.Leu229Pro) c.*364T>C (n.*364T>C) c.773T>C (p.Leu258Pro) c.707T>C (p.Leu236Pro) | |
5 | g.42711340T>G | CA359696069 | GHR | c.752T>G (p.Leu251Arg) c.686T>G (p.Leu229Arg) c.*364T>G (n.*364T>G) c.773T>G (p.Leu258Arg) c.707T>G (p.Leu236Arg) | |
5 | g.42711341T>A | CA443848038 | GHR | c.753T>A (p.Leu251=) c.687T>A (p.Leu229=) c.*365T>A (n.*365T>A) c.774T>A (p.Leu258=) c.708T>A (p.Leu236=) | |
5 | g.42711341T>C | CA443848039 | GHR | c.753T>C (p.Leu251=) c.687T>C (p.Leu229=) c.*365T>C (n.*365T>C) c.774T>C (p.Leu258=) c.708T>C (p.Leu236=) | |
5 | g.42711341T>G | CA443848040 | GHR | c.753T>G (p.Leu251=) c.687T>G (p.Leu229=) c.*365T>G (n.*365T>G) c.774T>G (p.Leu258=) c.708T>G (p.Leu236=) | |
5 | g.42711342C>A | CA359696070 | GHR | c.754C>A (p.Pro252Thr) c.688C>A (p.Pro230Thr) c.*366C>A (n.*366C>A) c.775C>A (p.Pro259Thr) c.709C>A (p.Pro237Thr) | |
5 | g.42711342C>G | CA359696071 | GHR | c.754C>G (p.Pro252Ala) c.688C>G (p.Pro230Ala) c.*366C>G (n.*366C>G) c.775C>G (p.Pro259Ala) c.709C>G (p.Pro237Ala) | |
5 | g.42711342C>T | CA359696072 | GHR | c.754C>T (p.Pro252Ser) c.688C>T (p.Pro230Ser) c.*366C>T (n.*366C>T) c.775C>T (p.Pro259Ser) c.709C>T (p.Pro237Ser) | gnomAD v4 |
5 | g.42711343C>A | CA359696073 | GHR | c.755C>A (p.Pro252His) c.689C>A (p.Pro230His) c.*367C>A (n.*367C>A) c.776C>A (p.Pro259His) c.710C>A (p.Pro237His) | |
5 | g.42711343C= | CA1542304969 | GHR | c.755C= (p.Pro252=) c.689C= (p.Pro230=) c.*367C= (n.*367C=) c.776C= (p.Pro259=) c.710C= (p.Pro237=) | |
5 | g.42711343C>G | CA359696074 | GHR | c.755C>G (p.Pro252Arg) c.689C>G (p.Pro230Arg) c.*367C>G (n.*367C>G) c.776C>G (p.Pro259Arg) c.710C>G (p.Pro237Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711343C>T | CA359696075 | GHR | c.755C>T (p.Pro252Leu) c.689C>T (p.Pro230Leu) c.*367C>T (n.*367C>T) c.776C>T (p.Pro259Leu) c.710C>T (p.Pro237Leu) | |
5 | g.42711344T>A | CA443848049 | GHR | c.756T>A (p.Pro252=) c.690T>A (p.Pro230=) c.*368T>A (n.*368T>A) c.777T>A (p.Pro259=) c.711T>A (p.Pro237=) | |
5 | g.42711344T>C | CA443848051 | GHR | c.756T>C (p.Pro252=) c.690T>C (p.Pro230=) c.*368T>C (n.*368T>C) c.777T>C (p.Pro259=) c.711T>C (p.Pro237=) | |
5 | g.42711344T>G | CA443848053 | GHR | c.756T>G (p.Pro252=) c.690T>G (p.Pro230=) c.*368T>G (n.*368T>G) c.777T>G (p.Pro259=) c.711T>G (p.Pro237=) | |
5 | g.42711345del | CA2573139698 | GHR | c.757del (p.Gln253ArgfsTer2) c.691del (p.Gln231ArgfsTer2) c.*369del (n.*369del) c.778del (p.Gln260ArgfsTer2) c.712del (p.Gln238ArgfsTer2) | ClinVar dbSNP |
5 | g.42711345C>A | CA359696076 | GHR | c.757C>A (p.Gln253Lys) c.691C>A (p.Gln231Lys) c.*369C>A (n.*369C>A) c.778C>A (p.Gln260Lys) c.712C>A (p.Gln238Lys) | ClinVar |
5 | g.42711345C= | CA1542304973 | GHR | c.757C= (p.Gln253=) c.691C= (p.Gln231=) c.*369C= (n.*369C=) c.778C= (p.Gln260=) c.712C= (p.Gln238=) | |
5 | g.42711345C>G | CA359696077 | GHR | c.757C>G (p.Gln253Glu) c.691C>G (p.Gln231Glu) c.*369C>G (n.*369C>G) c.778C>G (p.Gln260Glu) c.712C>G (p.Gln238Glu) | |
5 | g.42711345C>T | CA359696078 | GHR | c.757C>T (p.Gln253Ter) c.691C>T (p.Gln231Ter) c.*369C>T (n.*369C>T) c.778C>T (p.Gln260Ter) c.712C>T (p.Gln238Ter) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.42711346A>C | CA359696081 | GHR | c.758A>C (p.Gln253Pro) c.692A>C (p.Gln231Pro) c.*370A>C (n.*370A>C) c.779A>C (p.Gln260Pro) c.713A>C (p.Gln238Pro) | |
5 | g.42711346A>G | CA359696080 | GHR | c.758A>G (p.Gln253Arg) c.692A>G (p.Gln231Arg) c.*370A>G (n.*370A>G) c.779A>G (p.Gln260Arg) c.713A>G (p.Gln238Arg) | |
5 | g.42711346A>T | CA359696079 | GHR | c.758A>T (p.Gln253Leu) c.692A>T (p.Gln231Leu) c.*370A>T (n.*370A>T) c.779A>T (p.Gln260Leu) c.713A>T (p.Gln238Leu) | |
5 | g.42711347G>A | CA443848062 | GHR | c.759G>A (p.Gln253=) c.693G>A (p.Gln231=) c.*371G>A (n.*371G>A) c.780G>A (p.Gln260=) c.714G>A (p.Gln238=) | |
5 | g.42711347G>C | CA359696082 | GHR | c.759G>C (p.Gln253His) c.693G>C (p.Gln231His) c.*371G>C (n.*371G>C) c.780G>C (p.Gln260His) c.714G>C (p.Gln238His) | |
5 | g.42711347G>T | CA359696083 | GHR | c.759G>T (p.Gln253His) c.693G>T (p.Gln231His) c.*371G>T (n.*371G>T) c.780G>T (p.Gln260His) c.714G>T (p.Gln238His) | |
5 | g.42711347_42711348delinsGA | CA1542304978 | GHR | c.759_760delinsGA (p.Gln253=) c.693_694delinsGA (p.Gln231=) c.*371_*372delinsGA (n.*371_*372delinsGA) c.780_781delinsGA (p.Gln260=) c.714_715delinsGA (p.Gln238=) | |
5 | g.42711348del | CA559293444 | GHR | c.760del (p.Met254Ter) c.694del (p.Met232Ter) c.*372del (n.*372del) c.781del (p.Met261Ter) c.715del (p.Met239Ter) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711348A>C | CA359696084 | GHR | c.760A>C (p.Met254Leu) c.694A>C (p.Met232Leu) c.*372A>C (n.*372A>C) c.781A>C (p.Met261Leu) c.715A>C (p.Met239Leu) | |
5 | g.42711348A>G | CA359696085 | GHR | c.760A>G (p.Met254Val) c.694A>G (p.Met232Val) c.*372A>G (n.*372A>G) c.781A>G (p.Met261Val) c.715A>G (p.Met239Val) | gnomAD v4 |
5 | g.42711348A>T | CA359696086 | GHR | c.760A>T (p.Met254Leu) c.694A>T (p.Met232Leu) c.*372A>T (n.*372A>T) c.781A>T (p.Met261Leu) c.715A>T (p.Met239Leu) | |
5 | g.42711349T>A | CA359696089 | GHR | c.761T>A (p.Met254Lys) c.695T>A (p.Met232Lys) c.*373T>A (n.*373T>A) c.782T>A (p.Met261Lys) c.716T>A (p.Met239Lys) | |
5 | g.42711349T>C | CA359696088 | GHR | c.761T>C (p.Met254Thr) c.695T>C (p.Met232Thr) c.*373T>C (n.*373T>C) c.782T>C (p.Met261Thr) c.716T>C (p.Met239Thr) | |
5 | g.42711349T>G | CA359696087 | GHR | c.761T>G (p.Met254Arg) c.695T>G (p.Met232Arg) c.*373T>G (n.*373T>G) c.782T>G (p.Met261Arg) c.716T>G (p.Met239Arg) | gnomAD v4 |
5 | g.42711350G>A | CA359696090 | GHR | c.762G>A (p.Met254Ile) c.696G>A (p.Met232Ile) c.*374G>A (n.*374G>A) c.783G>A (p.Met261Ile) c.717G>A (p.Met239Ile) | gnomAD v4 |
5 | g.42711350G>C | CA359696091 | GHR | c.762G>C (p.Met254Ile) c.696G>C (p.Met232Ile) c.*374G>C (n.*374G>C) c.783G>C (p.Met261Ile) c.717G>C (p.Met239Ile) | gnomAD v4 |
5 | g.42711350G>T | CA359696092 | GHR | c.762G>T (p.Met254Ile) c.696G>T (p.Met232Ile) c.*374G>T (n.*374G>T) c.783G>T (p.Met261Ile) c.717G>T (p.Met239Ile) | |
5 | g.42711350_42711351delinsGA | CA1542304982 | GHR | c.762_763delinsGA (p.Met254=) c.696_697delinsGA (p.Met232=) c.*374_*375delinsGA (n.*374_*375delinsGA) c.783_784delinsGA (p.Met261=) c.717_718delinsGA (p.Met239=) | |
5 | g.42711351del | CA1542304985 | GHR | c.763del (p.Ser255AlafsTer15) c.697del (p.Ser233AlafsTer15) c.*375del (n.*375del) c.784del (p.Ser262AlafsTer15) c.718del (p.Ser240AlafsTer15) | dbSNP |
5 | g.42711351A= | CA1542304986 | GHR | c.763A= (p.Ser255=) c.697A= (p.Ser233=) c.*375A= (n.*375A=) c.784A= (p.Ser262=) c.718A= (p.Ser240=) | |
5 | g.42711351A>C | CA359696093 | GHR | c.763A>C (p.Ser255Arg) c.697A>C (p.Ser233Arg) c.*375A>C (n.*375A>C) c.784A>C (p.Ser262Arg) c.718A>C (p.Ser240Arg) | |
5 | g.42711351A>G | CA359696094 | GHR | c.763A>G (p.Ser255Gly) c.697A>G (p.Ser233Gly) c.*375A>G (n.*375A>G) c.784A>G (p.Ser262Gly) c.718A>G (p.Ser240Gly) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42711351A>T | CA359696095 | GHR | c.763A>T (p.Ser255Cys) c.697A>T (p.Ser233Cys) c.*375A>T (n.*375A>T) c.784A>T (p.Ser262Cys) c.718A>T (p.Ser240Cys) | |
5 | g.42711352G>A | CA359696096 | GHR | c.764G>A (p.Ser255Asn) c.698G>A (p.Ser233Asn) c.*376G>A (n.*376G>A) c.785G>A (p.Ser262Asn) c.719G>A (p.Ser240Asn) | dbSNP |
5 | g.42711352G>C | CA359696097 | GHR | c.764G>C (p.Ser255Thr) c.698G>C (p.Ser233Thr) c.*376G>C (n.*376G>C) c.785G>C (p.Ser262Thr) c.719G>C (p.Ser240Thr) | |
5 | g.42711352G= | CA1542304989 | GHR | c.764G= (p.Ser255=) c.698G= (p.Ser233=) c.*376G= (n.*376G=) c.785G= (p.Ser262=) c.719G= (p.Ser240=) | |
5 | g.42711352G>T | CA118049497 | GHR | c.764G>T (p.Ser255Ile) c.698G>T (p.Ser233Ile) c.*376G>T (n.*376G>T) c.785G>T (p.Ser262Ile) c.719G>T (p.Ser240Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711353C>A | CA359696098 | GHR | c.765C>A (p.Ser255Arg) c.699C>A (p.Ser233Arg) c.*377C>A (n.*377C>A) c.786C>A (p.Ser262Arg) c.720C>A (p.Ser240Arg) | |
5 | g.42711353C>G | CA359696099 | GHR | c.765C>G (p.Ser255Arg) c.699C>G (p.Ser233Arg) c.*377C>G (n.*377C>G) c.786C>G (p.Ser262Arg) c.720C>G (p.Ser240Arg) | |
5 | g.42711353C>T | CA443848083 | GHR | c.765C>T (p.Ser255=) c.699C>T (p.Ser233=) c.*377C>T (n.*377C>T) c.786C>T (p.Ser262=) c.720C>T (p.Ser240=) | |
5 | g.42711354C>A | CA359696100 | GHR | c.766C>A (p.Gln256Lys) c.700C>A (p.Gln234Lys) c.*378C>A (n.*378C>A) c.787C>A (p.Gln263Lys) c.721C>A (p.Gln241Lys) | gnomAD v4 |
5 | g.42711354C= | CA1542304991 | GHR | c.766C= (p.Gln256=) c.700C= (p.Gln234=) c.*378C= (n.*378C=) c.787C= (p.Gln263=) c.721C= (p.Gln241=) | |
5 | g.42711354C>G | CA359696101 | GHR | c.766C>G (p.Gln256Glu) c.700C>G (p.Gln234Glu) c.*378C>G (n.*378C>G) c.787C>G (p.Gln263Glu) c.721C>G (p.Gln241Glu) | |
5 | g.42711354C>T | CA359696102 | GHR | c.766C>T (p.Gln256Ter) c.700C>T (p.Gln234Ter) c.*378C>T (n.*378C>T) c.787C>T (p.Gln263Ter) c.721C>T (p.Gln241Ter) | dbSNP |
5 | g.42711355A>C | CA359696103 | GHR | c.767A>C (p.Gln256Pro) c.701A>C (p.Gln234Pro) c.*379A>C (n.*379A>C) c.788A>C (p.Gln263Pro) c.722A>C (p.Gln241Pro) | |
5 | g.42711355A>G | CA359696104 | GHR | c.767A>G (p.Gln256Arg) c.701A>G (p.Gln234Arg) c.*379A>G (n.*379A>G) c.788A>G (p.Gln263Arg) c.722A>G (p.Gln241Arg) | |
5 | g.42711355A>T | CA359696105 | GHR | c.767A>T (p.Gln256Leu) c.701A>T (p.Gln234Leu) c.*379A>T (n.*379A>T) c.788A>T (p.Gln263Leu) c.722A>T (p.Gln241Leu) | |
5 | g.42711356A= | CA1542304994 | GHR | c.768A= (p.Gln256=) c.702A= (p.Gln234=) c.*380A= (n.*380A=) c.789A= (p.Gln263=) c.723A= (p.Gln241=) | |
5 | g.42711356A>C | CA359696106 | GHR | c.768A>C (p.Gln256His) c.702A>C (p.Gln234His) c.*380A>C (n.*380A>C) c.789A>C (p.Gln263His) c.723A>C (p.Gln241His) | |
5 | g.42711356A>G | CA3254485 | GHR | c.768A>G (p.Gln256=) c.702A>G (p.Gln234=) c.*380A>G (n.*380A>G) c.789A>G (p.Gln263=) c.723A>G (p.Gln241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711356A>T | CA359696107 | GHR | c.768A>T (p.Gln256His) c.702A>T (p.Gln234His) c.*380A>T (n.*380A>T) c.789A>T (p.Gln263His) c.723A>T (p.Gln241His) | |
5 | g.42711357T>A | CA359696110 | GHR | c.769T>A (p.Phe257Ile) c.703T>A (p.Phe235Ile) c.*381T>A (n.*381T>A) c.790T>A (p.Phe264Ile) c.724T>A (p.Phe242Ile) | |
5 | g.42711357T>C | CA359696109 | GHR | c.769T>C (p.Phe257Leu) c.703T>C (p.Phe235Leu) c.*381T>C (n.*381T>C) c.790T>C (p.Phe264Leu) c.724T>C (p.Phe242Leu) | |
5 | g.42711357T>G | CA359696108 | GHR | c.769T>G (p.Phe257Val) c.703T>G (p.Phe235Val) c.*381T>G (n.*381T>G) c.790T>G (p.Phe264Val) c.724T>G (p.Phe242Val) | |
5 | g.42711358T>A | CA359696111 | GHR | c.770T>A (p.Phe257Tyr) c.704T>A (p.Phe235Tyr) c.*382T>A (n.*382T>A) c.791T>A (p.Phe264Tyr) c.725T>A (p.Phe242Tyr) | gnomAD v4 |
5 | g.42711358T>C | CA359696112 | GHR | c.770T>C (p.Phe257Ser) c.704T>C (p.Phe235Ser) c.*382T>C (n.*382T>C) c.791T>C (p.Phe264Ser) c.725T>C (p.Phe242Ser) | |
5 | g.42711358T>G | CA359696113 | GHR | c.770T>G (p.Phe257Cys) c.704T>G (p.Phe235Cys) c.*382T>G (n.*382T>G) c.791T>G (p.Phe264Cys) c.725T>G (p.Phe242Cys) | COSMIC |
5 | g.42711359T>A | CA359696114 | GHR | c.771T>A (p.Phe257Leu) c.705T>A (p.Phe235Leu) c.*383T>A (n.*383T>A) c.792T>A (p.Phe264Leu) c.726T>A (p.Phe242Leu) | |
5 | g.42711359T>C | CA443848100 | GHR | c.771T>C (p.Phe257=) c.705T>C (p.Phe235=) c.*383T>C (n.*383T>C) c.792T>C (p.Phe264=) c.726T>C (p.Phe242=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.42711359T>G | CA359696115 | GHR | c.771T>G (p.Phe257Leu) c.705T>G (p.Phe235Leu) c.*383T>G (n.*383T>G) c.792T>G (p.Phe264Leu) c.726T>G (p.Phe242Leu) | |
5 | g.42711359T= | CA1542304997 | GHR | c.771T= (p.Phe257=) c.705T= (p.Phe235=) c.*383T= (n.*383T=) c.792T= (p.Phe264=) c.726T= (p.Phe242=) | |
5 | g.42711360A>C | CA359696118 | GHR | c.772A>C (p.Thr258Pro) c.706A>C (p.Thr236Pro) c.*384A>C (n.*384A>C) c.793A>C (p.Thr265Pro) c.727A>C (p.Thr243Pro) | |
5 | g.42711360A>G | CA359696117 | GHR | c.772A>G (p.Thr258Ala) c.706A>G (p.Thr236Ala) c.*384A>G (n.*384A>G) c.793A>G (p.Thr265Ala) c.727A>G (p.Thr243Ala) | |
5 | g.42711360A>T | CA359696116 | GHR | c.772A>T (p.Thr258Ser) c.706A>T (p.Thr236Ser) c.*384A>T (n.*384A>T) c.793A>T (p.Thr265Ser) c.727A>T (p.Thr243Ser) | |
5 | g.42711361C>A | CA359696119 | GHR | c.773C>A (p.Thr258Lys) c.707C>A (p.Thr236Lys) c.*385C>A (n.*385C>A) c.794C>A (p.Thr265Lys) c.728C>A (p.Thr243Lys) | gnomAD v4 COSMIC |
5 | g.42711361C>G | CA359696120 | GHR | c.773C>G (p.Thr258Arg) c.707C>G (p.Thr236Arg) c.*385C>G (n.*385C>G) c.794C>G (p.Thr265Arg) c.728C>G (p.Thr243Arg) | |
5 | g.42711361C>T | CA359696121 | GHR | c.773C>T (p.Thr258Ile) c.707C>T (p.Thr236Ile) c.*385C>T (n.*385C>T) c.794C>T (p.Thr265Ile) c.728C>T (p.Thr243Ile) | gnomAD v4 |
5 | g.42711362A>C | CA443848109 | GHR | c.774A>C (p.Thr258=) c.708A>C (p.Thr236=) c.*386A>C (n.*386A>C) c.795A>C (p.Thr265=) c.729A>C (p.Thr243=) | |
5 | g.42711362A>G | CA443848112 | GHR | c.774A>G (p.Thr258=) c.708A>G (p.Thr236=) c.*386A>G (n.*386A>G) c.795A>G (p.Thr265=) c.729A>G (p.Thr243=) | gnomAD v4 |
5 | g.42711362A>T | CA443848111 | GHR | c.774A>T (p.Thr258=) c.708A>T (p.Thr236=) c.*386A>T (n.*386A>T) c.795A>T (p.Thr265=) c.729A>T (p.Thr243=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42711363T>A | CA359696122 | GHR | c.775T>A (p.Cys259Ser) c.709T>A (p.Cys237Ser) c.*387T>A (n.*387T>A) c.796T>A (p.Cys266Ser) c.730T>A (p.Cys244Ser) | gnomAD v4 |
5 | g.42711363T>C | CA359696123 | GHR | c.775T>C (p.Cys259Arg) c.709T>C (p.Cys237Arg) c.*387T>C (n.*387T>C) c.796T>C (p.Cys266Arg) c.730T>C (p.Cys244Arg) | |
5 | g.42711363T>G | CA359696124 | GHR | c.775T>G (p.Cys259Gly) c.709T>G (p.Cys237Gly) c.*387T>G (n.*387T>G) c.796T>G (p.Cys266Gly) c.730T>G (p.Cys244Gly) | |
5 | g.42711364G>A | CA359696127 | GHR | c.776G>A (p.Cys259Tyr) c.710G>A (p.Cys237Tyr) c.*388G>A (n.*388G>A) c.797G>A (p.Cys266Tyr) c.731G>A (p.Cys244Tyr) | dbSNP gnomAD v4 |
5 | g.42711364G>C | CA359696125 | GHR | c.776G>C (p.Cys259Ser) c.710G>C (p.Cys237Ser) c.*388G>C (n.*388G>C) c.797G>C (p.Cys266Ser) c.731G>C (p.Cys244Ser) | |
5 | g.42711364G= | CA1542305001 | GHR | c.776G= (p.Cys259=) c.710G= (p.Cys237=) c.*388G= (n.*388G=) c.797G= (p.Cys266=) c.731G= (p.Cys244=) | |
5 | g.42711364G>T | CA359696126 | GHR | c.776G>T (p.Cys259Phe) c.710G>T (p.Cys237Phe) c.*388G>T (n.*388G>T) c.797G>T (p.Cys266Phe) c.731G>T (p.Cys244Phe) | gnomAD v4 |
5 | g.42711365T>A | CA359696128 | GHR | c.777T>A (p.Cys259Ter) c.711T>A (p.Cys237Ter) c.*389T>A (n.*389T>A) c.798T>A (p.Cys266Ter) c.732T>A (p.Cys244Ter) | |
5 | g.42711365T>C | CA443848122 | GHR | c.777T>C (p.Cys259=) c.711T>C (p.Cys237=) c.*389T>C (n.*389T>C) c.798T>C (p.Cys266=) c.732T>C (p.Cys244=) | |
5 | g.42711365T>G | CA359696129 | GHR | c.777T>G (p.Cys259Trp) c.711T>G (p.Cys237Trp) c.*389T>G (n.*389T>G) c.798T>G (p.Cys266Trp) c.732T>G (p.Cys244Trp) | COSMIC |
5 | g.42711366G>A | CA359696130 | GHR | c.778G>A (p.Glu260Lys) c.712G>A (p.Glu238Lys) c.*390G>A (n.*390G>A) c.799G>A (p.Glu267Lys) c.733G>A (p.Glu245Lys) | COSMIC |
5 | g.42711366G>C | CA359696131 | GHR | c.778G>C (p.Glu260Gln) c.712G>C (p.Glu238Gln) c.*390G>C (n.*390G>C) c.799G>C (p.Glu267Gln) c.733G>C (p.Glu245Gln) | |
5 | g.42711366G>T | CA359696132 | GHR | c.778G>T (p.Glu260Ter) c.712G>T (p.Glu238Ter) c.*390G>T (n.*390G>T) c.799G>T (p.Glu267Ter) c.733G>T (p.Glu245Ter) | COSMIC |
5 | g.42711370_42711372del | CA2673724022 | GHR | c.782_784del (p.Glu261del) c.716_718del (p.Glu239del) c.*394_*396del (n.*394_*396del) c.803_805del (p.Glu268del) c.737_739del (p.Glu246del) | gnomAD v4 |
5 | g.42711367A>C | CA359696133 | GHR | c.779A>C (p.Glu260Ala) c.713A>C (p.Glu238Ala) c.*391A>C (n.*391A>C) c.800A>C (p.Glu267Ala) c.734A>C (p.Glu245Ala) | |
5 | g.42711367A>G | CA359696134 | GHR | c.779A>G (p.Glu260Gly) c.713A>G (p.Glu238Gly) c.*391A>G (n.*391A>G) c.800A>G (p.Glu267Gly) c.734A>G (p.Glu245Gly) | |
5 | g.42711367A>T | CA359696135 | GHR | c.779A>T (p.Glu260Val) c.713A>T (p.Glu238Val) c.*391A>T (n.*391A>T) c.800A>T (p.Glu267Val) c.734A>T (p.Glu245Val) | |
5 | g.42711372_42711381del | CA2673724023 | GHR | c.784_784+9del c.718_718+9del c.*396_*396+9del c.805_805+9del c.739_739+9del | gnomAD v4 |
5 | g.42711368A= | CA1542305004 | GHR | c.780A= (p.Glu260=) c.714A= (p.Glu238=) c.*392A= (n.*392A=) c.801A= (p.Glu267=) c.735A= (p.Glu245=) | |
5 | g.42711368A>C | CA359696136 | GHR | c.780A>C (p.Glu260Asp) c.714A>C (p.Glu238Asp) c.*392A>C (n.*392A>C) c.801A>C (p.Glu267Asp) c.735A>C (p.Glu245Asp) | ClinVar dbSNP gnomAD v4 |
5 | g.42711368A>G | CA443848139 | GHR | c.780A>G (p.Glu260=) c.714A>G (p.Glu238=) c.*392A>G (n.*392A>G) c.801A>G (p.Glu267=) c.735A>G (p.Glu245=) | |
5 | g.42711368A>T | CA359696137 | GHR | c.780A>T (p.Glu260Asp) c.714A>T (p.Glu238Asp) c.*392A>T (n.*392A>T) c.801A>T (p.Glu267Asp) c.735A>T (p.Glu245Asp) | |
5 | g.42711369G>A | CA359696138 | GHR | c.781G>A (p.Glu261Lys) c.715G>A (p.Glu239Lys) c.*393G>A (n.*393G>A) c.802G>A (p.Glu268Lys) c.736G>A (p.Glu246Lys) | ClinVar dbSNP |
5 | g.42711369G>C | CA359696139 | GHR | c.781G>C (p.Glu261Gln) c.715G>C (p.Glu239Gln) c.*393G>C (n.*393G>C) c.802G>C (p.Glu268Gln) c.736G>C (p.Glu246Gln) | |
5 | g.42711369G= | CA1542305008 | GHR | c.781G= (p.Glu261=) c.715G= (p.Glu239=) c.*393G= (n.*393G=) c.802G= (p.Glu268=) c.736G= (p.Glu246=) | |
5 | g.42711369G>T | CA359696140 | GHR | c.781G>T (p.Glu261Ter) c.715G>T (p.Glu239Ter) c.*393G>T (n.*393G>T) c.802G>T (p.Glu268Ter) c.736G>T (p.Glu246Ter) | |
5 | g.42711370A>C | CA359696141 | GHR | c.782A>C (p.Glu261Ala) c.716A>C (p.Glu239Ala) c.*394A>C (n.*394A>C) c.803A>C (p.Glu268Ala) c.737A>C (p.Glu246Ala) | |
5 | g.42711370A>G | CA359696143 | GHR | c.782A>G (p.Glu261Gly) c.716A>G (p.Glu239Gly) c.*394A>G (n.*394A>G) c.803A>G (p.Glu268Gly) c.737A>G (p.Glu246Gly) | |
5 | g.42711370A>T | CA359696142 | GHR | c.782A>T (p.Glu261Val) c.716A>T (p.Glu239Val) c.*394A>T (n.*394A>T) c.803A>T (p.Glu268Val) c.737A>T (p.Glu246Val) | |
5 | g.42711371A>C | CA359696144 | GHR | c.783A>C (p.Glu261Asp) c.717A>C (p.Glu239Asp) c.*395A>C (n.*395A>C) c.804A>C (p.Glu268Asp) c.738A>C (p.Glu246Asp) | |
5 | g.42711371A>G | CA443848151 | GHR | c.783A>G (p.Glu261=) c.717A>G (p.Glu239=) c.*395A>G (n.*395A>G) c.804A>G (p.Glu268=) c.738A>G (p.Glu246=) | |
5 | g.42711371A>T | CA359696145 | GHR | c.783A>T (p.Glu261Asp) c.717A>T (p.Glu239Asp) c.*395A>T (n.*395A>T) c.804A>T (p.Glu268Asp) c.738A>T (p.Glu246Asp) | |
5 | g.42711372G>A | CA359696146 | GHR | c.784G>A (p.Asp262Asn) c.718G>A (p.Asp240Asn) c.*396G>A (n.*396G>A) c.805G>A (p.Asp269Asn) c.739G>A (p.Asp247Asn) | gnomAD v4 |
5 | g.42711372G>C | CA359696147 | GHR | c.784G>C (p.Asp262His) c.718G>C (p.Asp240His) c.*396G>C (n.*396G>C) c.805G>C (p.Asp269His) c.739G>C (p.Asp247His) | |
5 | g.42711372G>T | CA359696148 | GHR | c.784G>T (p.Asp262Tyr) c.718G>T (p.Asp240Tyr) c.*396G>T (n.*396G>T) c.805G>T (p.Asp269Tyr) c.739G>T (p.Asp247Tyr) | |
5 | g.42711373G>A | CA359696149 | GHR | c.784+1G>A (n.784+1G>A) c.718+1G>A (n.718+1G>A) c.*396+1G>A (n.*396+1G>A) c.805+1G>A (n.805+1G>A) c.739+1G>A (n.739+1G>A) | gnomAD v4 COSMIC |
5 | g.42711373G>C | CA359696150 | GHR | c.784+1G>C (n.784+1G>C) c.718+1G>C (n.718+1G>C) c.*396+1G>C (n.*396+1G>C) c.805+1G>C (n.805+1G>C) c.739+1G>C (n.739+1G>C) | |
5 | g.42711373G>T | CA359696151 | GHR | c.784+1G>T (n.784+1G>T) c.718+1G>T (n.718+1G>T) c.*396+1G>T (n.*396+1G>T) c.805+1G>T (n.805+1G>T) c.739+1G>T (n.739+1G>T) | |
5 | g.42711374T>A | CA359696152 | GHR | c.784+2T>A (n.784+2T>A) c.718+2T>A (n.718+2T>A) c.*396+2T>A (n.*396+2T>A) c.805+2T>A (n.805+2T>A) c.739+2T>A (n.739+2T>A) | |
5 | g.42711374T>C | CA359696153 | GHR | c.784+2T>C (n.784+2T>C) c.718+2T>C (n.718+2T>C) c.*396+2T>C (n.*396+2T>C) c.805+2T>C (n.805+2T>C) c.739+2T>C (n.739+2T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711374T>G | CA359696154 | GHR | c.784+2T>G (n.784+2T>G) c.718+2T>G (n.718+2T>G) c.*396+2T>G (n.*396+2T>G) c.805+2T>G (n.805+2T>G) c.739+2T>G (n.739+2T>G) | |
5 | g.42711374T= | CA1542305014 | GHR | c.784+2T= (n.784+2T=) c.718+2T= (n.718+2T=) c.*396+2T= (n.*396+2T=) c.805+2T= (n.805+2T=) c.739+2T= (n.739+2T=) | |
5 | g.42711375A= | CA1542305018 | GHR | c.784+3A= (n.784+3A=) c.718+3A= (n.718+3A=) c.*396+3A= (n.*396+3A=) c.805+3A= (n.805+3A=) c.739+3A= (n.739+3A=) | |
5 | g.42711375A>G | CA3254486 | GHR | c.784+3A>G (n.784+3A>G) c.718+3A>G (n.718+3A>G) c.*396+3A>G (n.*396+3A>G) c.805+3A>G (n.805+3A>G) c.739+3A>G (n.739+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42711376A= | CA1542305021 | GHR | c.784+4A= (n.784+4A=) c.718+4A= (n.718+4A=) c.*396+4A= (n.*396+4A=) c.805+4A= (n.805+4A=) c.739+4A= (n.739+4A=) | |
5 | g.42711376A>C | CA559293445 | GHR | c.784+4A>C (n.784+4A>C) c.718+4A>C (n.718+4A>C) c.*396+4A>C (n.*396+4A>C) c.805+4A>C (n.805+4A>C) c.739+4A>C (n.739+4A>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711376_42711377insTATTTT | CA3254487 | GHR | c.784+4_784+5insTATTTT (n.784+4_784+5insTATTTT) c.718+4_718+5insTATTTT (n.718+4_718+5insTATTTT) c.*396+4_*396+5insTATTTT (n.*396+4_*396+5insTATTTT) c.805+4_805+5insTATTTT (n.805+4_805+5insTATTTT) c.739+4_739+5insTATTTT (n.739+4_739+5insTATTTT) | dbSNP ExAC |
5 | g.42711378A= | CA1542305024 | GHR | c.784+6A= (n.784+6A=) c.718+6A= (n.718+6A=) c.*396+6A= (n.*396+6A=) c.805+6A= (n.805+6A=) c.739+6A= (n.739+6A=) | |
5 | g.42711378A>G | CA3254488 | GHR | c.784+6A>G (n.784+6A>G) c.718+6A>G (n.718+6A>G) c.*396+6A>G (n.*396+6A>G) c.805+6A>G (n.805+6A>G) c.739+6A>G (n.739+6A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711379del | CA2673724024 | GHR | c.784+7del (n.784+7del) c.718+7del (n.718+7del) c.*396+7del (n.*396+7del) c.805+7del (n.805+7del) c.739+7del (n.739+7del) | gnomAD v4 |
5 | g.42711379G>C | CA3254489 | GHR | c.784+7G>C (n.784+7G>C) c.718+7G>C (n.718+7G>C) c.*396+7G>C (n.*396+7G>C) c.805+7G>C (n.805+7G>C) c.739+7G>C (n.739+7G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711379G= | CA1542305027 | GHR | c.784+7G= (n.784+7G=) c.718+7G= (n.718+7G=) c.*396+7G= (n.*396+7G=) c.805+7G= (n.805+7G=) c.739+7G= (n.739+7G=) | |
5 | g.42711379G>T | CA2578302145 | GHR | c.784+7G>T (n.784+7G>T) c.718+7G>T (n.718+7G>T) c.*396+7G>T (n.*396+7G>T) c.805+7G>T (n.805+7G>T) c.739+7G>T (n.739+7G>T) | gnomAD v4 |
5 | g.42711383T>A | CA2766052885 | GHR | c.784+11T>A (n.784+11T>A) c.718+11T>A (n.718+11T>A) c.*396+11T>A (n.*396+11T>A) c.805+11T>A (n.805+11T>A) c.739+11T>A (n.739+11T>A) | |
5 | g.42711383T>C | CA1542305030 | GHR | c.784+11T>C (n.784+11T>C) c.718+11T>C (n.718+11T>C) c.*396+11T>C (n.*396+11T>C) c.805+11T>C (n.805+11T>C) c.739+11T>C (n.739+11T>C) | dbSNP |
5 | g.42711383T= | CA1542305029 | GHR | c.784+11T= (n.784+11T=) c.718+11T= (n.718+11T=) c.*396+11T= (n.*396+11T=) c.805+11T= (n.805+11T=) c.739+11T= (n.739+11T=) | |
5 | g.42711384A= | CA1542305032 | GHR | c.784+12A= (n.784+12A=) c.718+12A= (n.718+12A=) c.*396+12A= (n.*396+12A=) c.805+12A= (n.805+12A=) c.739+12A= (n.739+12A=) | |
5 | g.42711384A>G | CA559293446 | GHR | c.784+12A>G (n.784+12A>G) c.718+12A>G (n.718+12A>G) c.*396+12A>G (n.*396+12A>G) c.805+12A>G (n.805+12A>G) c.739+12A>G (n.739+12A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711384_42711401del | CA2673724025 | GHR | c.784+12_784+29del (n.784+12_784+29del) c.718+12_718+29del (n.718+12_718+29del) c.*396+12_*396+29del (n.*396+12_*396+29del) c.805+12_805+29del (n.805+12_805+29del) c.739+12_739+29del (n.739+12_739+29del) | gnomAD v4 |
5 | g.42711385_42711386insCCAAACACACCCAACAC | CA2766052886 | GHR | c.784+13_784+14insCCAAACACACCCAACAC (n.784+13_784+14insCCAAACACACCCAACAC) c.718+13_718+14insCCAAACACACCCAACAC (n.718+13_718+14insCCAAACACACCCAACAC) c.*396+13_*396+14insCCAAACACACCCAACAC (n.*396+13_*396+14insCCAAACACACCCAACAC) c.805+13_805+14insCCAAACACACCCAACAC (n.805+13_805+14insCCAAACACACCCAACAC) c.739+13_739+14insCCAAACACACCCAACAC (n.739+13_739+14insCCAAACACACCCAACAC) | |
5 | g.42711387A>G | CA2673724026 | GHR | c.784+15A>G (n.784+15A>G) c.718+15A>G (n.718+15A>G) c.*396+15A>G (n.*396+15A>G) c.805+15A>G (n.805+15A>G) c.739+15A>G (n.739+15A>G) | gnomAD v4 |
5 | g.42711388G>A | CA3254490 | GHR | c.784+16G>A (n.784+16G>A) c.718+16G>A (n.718+16G>A) c.*396+16G>A (n.*396+16G>A) c.805+16G>A (n.805+16G>A) c.739+16G>A (n.739+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711388G>C | CA2578302146 | GHR | c.784+16G>C (n.784+16G>C) c.718+16G>C (n.718+16G>C) c.*396+16G>C (n.*396+16G>C) c.805+16G>C (n.805+16G>C) c.739+16G>C (n.739+16G>C) | gnomAD v4 |
5 | g.42711388G= | CA1542305034 | GHR | c.784+16G= (n.784+16G=) c.718+16G= (n.718+16G=) c.*396+16G= (n.*396+16G=) c.805+16G= (n.805+16G=) c.739+16G= (n.739+16G=) | |
5 | g.42711388G>T | CA2578302147 | GHR | c.784+16G>T (n.784+16G>T) c.718+16G>T (n.718+16G>T) c.*396+16G>T (n.*396+16G>T) c.805+16G>T (n.805+16G>T) c.739+16G>T (n.739+16G>T) | |
5 | g.42711389A>G | CA2673724027 | GHR | c.784+17A>G (n.784+17A>G) c.718+17A>G (n.718+17A>G) c.*396+17A>G (n.*396+17A>G) c.805+17A>G (n.805+17A>G) c.739+17A>G (n.739+17A>G) | gnomAD v4 |
5 | g.42711389A>T | CA2673724028 | GHR | c.784+17A>T (n.784+17A>T) c.718+17A>T (n.718+17A>T) c.*396+17A>T (n.*396+17A>T) c.805+17A>T (n.805+17A>T) c.739+17A>T (n.739+17A>T) | gnomAD v4 |
5 | g.42711390T>C | CA2578302148 | GHR | c.784+18T>C (n.784+18T>C) c.718+18T>C (n.718+18T>C) c.*396+18T>C (n.*396+18T>C) c.805+18T>C (n.805+18T>C) c.739+18T>C (n.739+18T>C) | |
5 | g.42711391T>A | CA2673724029 | GHR | c.784+19T>A (n.784+19T>A) c.718+19T>A (n.718+19T>A) c.*396+19T>A (n.*396+19T>A) c.805+19T>A (n.805+19T>A) c.739+19T>A (n.739+19T>A) | gnomAD v4 |