Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.42711224A>C | CA443847478 | GHR | c.636A>C (p.Thr212=) c.570A>C (p.Thr190=) c.*248A>C (n.*248A>C) c.657A>C (p.Thr219=) c.591A>C (p.Thr197=) | |
5 | g.42711224A>G | CA443847481 | GHR | c.636A>G (p.Thr212=) c.570A>G (p.Thr190=) c.*248A>G (n.*248A>G) c.657A>G (p.Thr219=) c.591A>G (p.Thr197=) | |
5 | g.42711224A>T | CA443847482 | GHR | c.636A>T (p.Thr212=) c.570A>T (p.Thr190=) c.*248A>T (n.*248A>T) c.657A>T (p.Thr219=) c.591A>T (p.Thr197=) | |
5 | g.42711225A>C | CA359695823 | GHR | c.637A>C (p.Thr213Pro) c.571A>C (p.Thr191Pro) c.*249A>C (n.*249A>C) c.658A>C (p.Thr220Pro) c.592A>C (p.Thr198Pro) | |
5 | g.42711225A>G | CA359695824 | GHR | c.637A>G (p.Thr213Ala) c.571A>G (p.Thr191Ala) c.*249A>G (n.*249A>G) c.658A>G (p.Thr220Ala) c.592A>G (p.Thr198Ala) | |
5 | g.42711225A>T | CA359695825 | GHR | c.637A>T (p.Thr213Ser) c.571A>T (p.Thr191Ser) c.*249A>T (n.*249A>T) c.658A>T (p.Thr220Ser) c.592A>T (p.Thr198Ser) | |
5 | g.42711226C>A | CA359695826 | GHR | c.638C>A (p.Thr213Lys) c.572C>A (p.Thr191Lys) c.*250C>A (n.*250C>A) c.659C>A (p.Thr220Lys) c.593C>A (p.Thr198Lys) | |
5 | g.42711226C= | CA1542304766 | GHR | c.638C= (p.Thr213=) c.572C= (p.Thr191=) c.*250C= (n.*250C=) c.659C= (p.Thr220=) c.593C= (p.Thr198=) | |
5 | g.42711226C>G | CA359695827 | GHR | c.638C>G (p.Thr213Arg) c.572C>G (p.Thr191Arg) c.*250C>G (n.*250C>G) c.659C>G (p.Thr220Arg) c.593C>G (p.Thr198Arg) | |
5 | g.42711226C>T | CA3254461 | GHR | c.638C>T (p.Thr213Ile) c.572C>T (p.Thr191Ile) c.*250C>T (n.*250C>T) c.659C>T (p.Thr220Ile) c.593C>T (p.Thr198Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711227A>C | CA443847500 | GHR | c.639A>C (p.Thr213=) c.573A>C (p.Thr191=) c.*251A>C (n.*251A>C) c.660A>C (p.Thr220=) c.594A>C (p.Thr198=) | |
5 | g.42711227A>G | CA443847501 | GHR | c.639A>G (p.Thr213=) c.573A>G (p.Thr191=) c.*251A>G (n.*251A>G) c.660A>G (p.Thr220=) c.594A>G (p.Thr198=) | |
5 | g.42711227A>T | CA443847502 | GHR | c.639A>T (p.Thr213=) c.573A>T (p.Thr191=) c.*251A>T (n.*251A>T) c.660A>T (p.Thr220=) c.594A>T (p.Thr198=) | |
5 | g.42711228T>A | CA359695828 | GHR | c.640T>A (p.Ser214Thr) c.574T>A (p.Ser192Thr) c.*252T>A (n.*252T>A) c.661T>A (p.Ser221Thr) c.595T>A (p.Ser199Thr) | |
5 | g.42711228T>C | CA359695830 | GHR | c.640T>C (p.Ser214Pro) c.574T>C (p.Ser192Pro) c.*252T>C (n.*252T>C) c.661T>C (p.Ser221Pro) c.595T>C (p.Ser199Pro) | |
5 | g.42711228T>G | CA359695829 | GHR | c.640T>G (p.Ser214Ala) c.574T>G (p.Ser192Ala) c.*252T>G (n.*252T>G) c.661T>G (p.Ser221Ala) c.595T>G (p.Ser199Ala) | |
5 | g.42711229C>A | CA359695831 | GHR | c.641C>A (p.Ser214Ter) c.575C>A (p.Ser192Ter) c.*253C>A (n.*253C>A) c.662C>A (p.Ser221Ter) c.596C>A (p.Ser199Ter) | |
5 | g.42711229C>G | CA359695832 | GHR | c.641C>G (p.Ser214Ter) c.575C>G (p.Ser192Ter) c.*253C>G (n.*253C>G) c.662C>G (p.Ser221Ter) c.596C>G (p.Ser199Ter) | |
5 | g.42711229C>T | CA359695833 | GHR | c.641C>T (p.Ser214Leu) c.575C>T (p.Ser192Leu) c.*253C>T (n.*253C>T) c.662C>T (p.Ser221Leu) c.596C>T (p.Ser199Leu) | |
5 | g.42711230A>C | CA443847513 | GHR | c.642A>C (p.Ser214=) c.576A>C (p.Ser192=) c.*254A>C (n.*254A>C) c.663A>C (p.Ser221=) c.597A>C (p.Ser199=) | |
5 | g.42711230A>G | CA443847515 | GHR | c.642A>G (p.Ser214=) c.576A>G (p.Ser192=) c.*254A>G (n.*254A>G) c.663A>G (p.Ser221=) c.597A>G (p.Ser199=) | |
5 | g.42711230A>T | CA443847518 | GHR | c.642A>T (p.Ser214=) c.576A>T (p.Ser192=) c.*254A>T (n.*254A>T) c.663A>T (p.Ser221=) c.597A>T (p.Ser199=) | |
5 | g.42711231G>A | CA359695834 | GHR | c.643G>A (p.Val215Ile) c.577G>A (p.Val193Ile) c.*255G>A (n.*255G>A) c.664G>A (p.Val222Ile) c.598G>A (p.Val200Ile) | gnomAD v4 |
5 | g.42711231G>C | CA359695835 | GHR | c.643G>C (p.Val215Leu) c.577G>C (p.Val193Leu) c.*255G>C (n.*255G>C) c.664G>C (p.Val222Leu) c.598G>C (p.Val200Leu) | |
5 | g.42711231G= | CA1542304769 | GHR | c.643G= (p.Val215=) c.577G= (p.Val193=) c.*255G= (n.*255G=) c.664G= (p.Val222=) c.598G= (p.Val200=) | |
5 | g.42711231G>T | CA3254462 | GHR | c.643G>T (p.Val215Phe) c.577G>T (p.Val193Phe) c.*255G>T (n.*255G>T) c.664G>T (p.Val222Phe) c.598G>T (p.Val200Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42711232T>A | CA359695837 | GHR | c.644T>A (p.Val215Asp) c.578T>A (p.Val193Asp) c.*256T>A (n.*256T>A) c.665T>A (p.Val222Asp) c.599T>A (p.Val200Asp) | |
5 | g.42711232T>C | CA3254463 | GHR | c.644T>C (p.Val215Ala) c.578T>C (p.Val193Ala) c.*256T>C (n.*256T>C) c.665T>C (p.Val222Ala) c.599T>C (p.Val200Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42711232T>G | CA359695836 | GHR | c.644T>G (p.Val215Gly) c.578T>G (p.Val193Gly) c.*256T>G (n.*256T>G) c.665T>G (p.Val222Gly) c.599T>G (p.Val200Gly) | |
5 | g.42711232T= | CA1542304773 | GHR | c.644T= (p.Val215=) c.578T= (p.Val193=) c.*256T= (n.*256T=) c.665T= (p.Val222=) c.599T= (p.Val200=) | |
5 | g.42711233T>A | CA443847541 | GHR | c.645T>A (p.Val215=) c.579T>A (p.Val193=) c.*257T>A (n.*257T>A) c.666T>A (p.Val222=) c.600T>A (p.Val200=) | |
5 | g.42711233T>C | CA443847538 | GHR | c.645T>C (p.Val215=) c.579T>C (p.Val193=) c.*257T>C (n.*257T>C) c.666T>C (p.Val222=) c.600T>C (p.Val200=) | |
5 | g.42711233T>G | CA443847535 | GHR | c.645T>G (p.Val215=) c.579T>G (p.Val193=) c.*257T>G (n.*257T>G) c.666T>G (p.Val222=) c.600T>G (p.Val200=) | gnomAD v4 |
5 | g.42711234C>A | CA359695838 | GHR | c.646C>A (p.Pro216Thr) c.580C>A (p.Pro194Thr) c.*258C>A (n.*258C>A) c.667C>A (p.Pro223Thr) c.601C>A (p.Pro201Thr) | |
5 | g.42711234C= | CA1542304775 | GHR | c.646C= (p.Pro216=) c.580C= (p.Pro194=) c.*258C= (n.*258C=) c.667C= (p.Pro223=) c.601C= (p.Pro201=) | |
5 | g.42711234C>G | CA359695839 | GHR | c.646C>G (p.Pro216Ala) c.580C>G (p.Pro194Ala) c.*258C>G (n.*258C>G) c.667C>G (p.Pro223Ala) c.601C>G (p.Pro201Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711234C>T | CA359695840 | GHR | c.646C>T (p.Pro216Ser) c.580C>T (p.Pro194Ser) c.*258C>T (n.*258C>T) c.667C>T (p.Pro223Ser) c.601C>T (p.Pro201Ser) | gnomAD v4 |
5 | g.42711235C>A | CA359695841 | GHR | c.647C>A (p.Pro216Gln) c.581C>A (p.Pro194Gln) c.*259C>A (n.*259C>A) c.668C>A (p.Pro223Gln) c.602C>A (p.Pro201Gln) | |
5 | g.42711235C= | CA1542304777 | GHR | c.647C= (p.Pro216=) c.581C= (p.Pro194=) c.*259C= (n.*259C=) c.668C= (p.Pro223=) c.602C= (p.Pro201=) | |
5 | g.42711235C>G | CA359695842 | GHR | c.647C>G (p.Pro216Arg) c.581C>G (p.Pro194Arg) c.*259C>G (n.*259C>G) c.668C>G (p.Pro223Arg) c.602C>G (p.Pro201Arg) | |
5 | g.42711235C>T | CA118049494 | GHR | c.647C>T (p.Pro216Leu) c.581C>T (p.Pro194Leu) c.*259C>T (n.*259C>T) c.668C>T (p.Pro223Leu) c.602C>T (p.Pro201Leu) | dbSNP |
5 | g.42711236A>C | CA443847554 | GHR | c.648A>C (p.Pro216=) c.582A>C (p.Pro194=) c.*260A>C (n.*260A>C) c.669A>C (p.Pro223=) c.603A>C (p.Pro201=) | |
5 | g.42711236A>G | CA443847556 | GHR | c.648A>G (p.Pro216=) c.582A>G (p.Pro194=) c.*260A>G (n.*260A>G) c.669A>G (p.Pro223=) c.603A>G (p.Pro201=) | gnomAD v4 |
5 | g.42711236A>T | CA443847559 | GHR | c.648A>T (p.Pro216=) c.582A>T (p.Pro194=) c.*260A>T (n.*260A>T) c.669A>T (p.Pro223=) c.603A>T (p.Pro201=) | |
5 | g.42711237G>A | CA359695843 | GHR | c.649G>A (p.Val217Met) c.583G>A (p.Val195Met) c.*261G>A (n.*261G>A) c.670G>A (p.Val224Met) c.604G>A (p.Val202Met) | |
5 | g.42711237G>C | CA359695845 | GHR | c.649G>C (p.Val217Leu) c.583G>C (p.Val195Leu) c.*261G>C (n.*261G>C) c.670G>C (p.Val224Leu) c.604G>C (p.Val202Leu) | |
5 | g.42711237G>T | CA359695844 | GHR | c.649G>T (p.Val217Leu) c.583G>T (p.Val195Leu) c.*261G>T (n.*261G>T) c.670G>T (p.Val224Leu) c.604G>T (p.Val202Leu) | |
5 | g.42711238T>A | CA359695846 | GHR | c.650T>A (p.Val217Glu) c.584T>A (p.Val195Glu) c.*262T>A (n.*262T>A) c.671T>A (p.Val224Glu) c.605T>A (p.Val202Glu) | |
5 | g.42711238T>C | CA3254464 | GHR | c.650T>C (p.Val217Ala) c.584T>C (p.Val195Ala) c.*262T>C (n.*262T>C) c.671T>C (p.Val224Ala) c.605T>C (p.Val202Ala) | dbSNP ExAC gnomAD v2 |
5 | g.42711238T>G | CA359695847 | GHR | c.650T>G (p.Val217Gly) c.584T>G (p.Val195Gly) c.*262T>G (n.*262T>G) c.671T>G (p.Val224Gly) c.605T>G (p.Val202Gly) | |
5 | g.42711238T= | CA1542304781 | GHR | c.650T= (p.Val217=) c.584T= (p.Val195=) c.*262T= (n.*262T=) c.671T= (p.Val224=) c.605T= (p.Val202=) | |
5 | g.42711239G>A | CA443847581 | GHR | c.651G>A (p.Val217=) c.585G>A (p.Val195=) c.*263G>A (n.*263G>A) c.672G>A (p.Val224=) c.606G>A (p.Val202=) | |
5 | g.42711239G>C | CA443847576 | GHR | c.651G>C (p.Val217=) c.585G>C (p.Val195=) c.*263G>C (n.*263G>C) c.672G>C (p.Val224=) c.606G>C (p.Val202=) | |
5 | g.42711239G>T | CA443847579 | GHR | c.651G>T (p.Val217=) c.585G>T (p.Val195=) c.*263G>T (n.*263G>T) c.672G>T (p.Val224=) c.606G>T (p.Val202=) | |
5 | g.42711240T>A | CA359695848 | GHR | c.652T>A (p.Tyr218Asn) c.586T>A (p.Tyr196Asn) c.*264T>A (n.*264T>A) c.673T>A (p.Tyr225Asn) c.607T>A (p.Tyr203Asn) | |
5 | g.42711240T>C | CA359695849 | GHR | c.652T>C (p.Tyr218His) c.586T>C (p.Tyr196His) c.*264T>C (n.*264T>C) c.673T>C (p.Tyr225His) c.607T>C (p.Tyr203His) | |
5 | g.42711240T>G | CA359695850 | GHR | c.652T>G (p.Tyr218Asp) c.586T>G (p.Tyr196Asp) c.*264T>G (n.*264T>G) c.673T>G (p.Tyr225Asp) c.607T>G (p.Tyr203Asp) | |
5 | g.42711241A= | CA1542304784 | GHR | c.653A= (p.Tyr218=) c.587A= (p.Tyr196=) c.*265A= (n.*265A=) c.674A= (p.Tyr225=) c.608A= (p.Tyr203=) | |
5 | g.42711241A>C | CA359695851 | GHR | c.653A>C (p.Tyr218Ser) c.587A>C (p.Tyr196Ser) c.*265A>C (n.*265A>C) c.674A>C (p.Tyr225Ser) c.608A>C (p.Tyr203Ser) | |
5 | g.42711241A>G | CA3254465 | GHR | c.653A>G (p.Tyr218Cys) c.587A>G (p.Tyr196Cys) c.*265A>G (n.*265A>G) c.674A>G (p.Tyr225Cys) c.608A>G (p.Tyr203Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42711241A>T | CA359695852 | GHR | c.653A>T (p.Tyr218Phe) c.587A>T (p.Tyr196Phe) c.*265A>T (n.*265A>T) c.674A>T (p.Tyr225Phe) c.608A>T (p.Tyr203Phe) | |
5 | g.42711242C>A | CA359695853 | GHR | c.654C>A (p.Tyr218Ter) c.588C>A (p.Tyr196Ter) c.*266C>A (n.*266C>A) c.675C>A (p.Tyr225Ter) c.609C>A (p.Tyr203Ter) | gnomAD v4 |
5 | g.42711242C>G | CA359695854 | GHR | c.654C>G (p.Tyr218Ter) c.588C>G (p.Tyr196Ter) c.*266C>G (n.*266C>G) c.675C>G (p.Tyr225Ter) c.609C>G (p.Tyr203Ter) | |
5 | g.42711242C>T | CA443847598 | GHR | c.654C>T (p.Tyr218=) c.588C>T (p.Tyr196=) c.*266C>T (n.*266C>T) c.675C>T (p.Tyr225=) c.609C>T (p.Tyr203=) | gnomAD v4 |
5 | g.42711243T>A | CA359695855 | GHR | c.655T>A (p.Ser219Thr) c.589T>A (p.Ser197Thr) c.*267T>A (n.*267T>A) c.676T>A (p.Ser226Thr) c.610T>A (p.Ser204Thr) | |
5 | g.42711243T>C | CA359695857 | GHR | c.655T>C (p.Ser219Pro) c.589T>C (p.Ser197Pro) c.*267T>C (n.*267T>C) c.676T>C (p.Ser226Pro) c.610T>C (p.Ser204Pro) | ClinVar |
5 | g.42711243T>G | CA359695856 | GHR | c.655T>G (p.Ser219Ala) c.589T>G (p.Ser197Ala) c.*267T>G (n.*267T>G) c.676T>G (p.Ser226Ala) c.610T>G (p.Ser204Ala) | |
5 | g.42711244C>A | CA359695858 | GHR | c.656C>A (p.Ser219Ter) c.590C>A (p.Ser197Ter) c.*268C>A (n.*268C>A) c.677C>A (p.Ser226Ter) c.611C>A (p.Ser204Ter) | |
5 | g.42711244C>G | CA359695859 | GHR | c.656C>G (p.Ser219Ter) c.590C>G (p.Ser197Ter) c.*268C>G (n.*268C>G) c.677C>G (p.Ser226Ter) c.611C>G (p.Ser204Ter) | |
5 | g.42711244C>T | CA359695860 | GHR | c.656C>T (p.Ser219Leu) c.590C>T (p.Ser197Leu) c.*268C>T (n.*268C>T) c.677C>T (p.Ser226Leu) c.611C>T (p.Ser204Leu) | |
5 | g.42711245A>C | CA443847618 | GHR | c.657A>C (p.Ser219=) c.591A>C (p.Ser197=) c.*269A>C (n.*269A>C) c.678A>C (p.Ser226=) c.612A>C (p.Ser204=) | |
5 | g.42711245A>G | CA443847613 | GHR | c.657A>G (p.Ser219=) c.591A>G (p.Ser197=) c.*269A>G (n.*269A>G) c.678A>G (p.Ser226=) c.612A>G (p.Ser204=) | ClinVar |
5 | g.42711245A>T | CA443847616 | GHR | c.657A>T (p.Ser219=) c.591A>T (p.Ser197=) c.*269A>T (n.*269A>T) c.678A>T (p.Ser226=) c.612A>T (p.Ser204=) | |
5 | g.42711246T>A | CA359695861 | GHR | c.658T>A (p.Leu220Met) c.592T>A (p.Leu198Met) c.*270T>A (n.*270T>A) c.679T>A (p.Leu227Met) c.613T>A (p.Leu205Met) | |
5 | g.42711246T>C | CA3254466 | GHR | c.658T>C (p.Leu220=) c.592T>C (p.Leu198=) c.*270T>C (n.*270T>C) c.679T>C (p.Leu227=) c.613T>C (p.Leu205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711246T>G | CA359695862 | GHR | c.658T>G (p.Leu220Val) c.592T>G (p.Leu198Val) c.*270T>G (n.*270T>G) c.679T>G (p.Leu227Val) c.613T>G (p.Leu205Val) | |
5 | g.42711246T= | CA1542304787 | GHR | c.658T= (p.Leu220=) c.592T= (p.Leu198=) c.*270T= (n.*270T=) c.679T= (p.Leu227=) c.613T= (p.Leu205=) | |
5 | g.42711247T>A | CA359695863 | GHR | c.659T>A (p.Leu220Ter) c.593T>A (p.Leu198Ter) c.*271T>A (n.*271T>A) c.680T>A (p.Leu227Ter) c.614T>A (p.Leu205Ter) | |
5 | g.42711247T>C | CA359695864 | GHR | c.659T>C (p.Leu220Ser) c.593T>C (p.Leu198Ser) c.*271T>C (n.*271T>C) c.680T>C (p.Leu227Ser) c.614T>C (p.Leu205Ser) | |
5 | g.42711247T>G | CA359695865 | GHR | c.659T>G (p.Leu220Trp) c.593T>G (p.Leu198Trp) c.*271T>G (n.*271T>G) c.680T>G (p.Leu227Trp) c.614T>G (p.Leu205Trp) | |
5 | g.42711248G>A | CA443847632 | GHR | c.660G>A (p.Leu220=) c.594G>A (p.Leu198=) c.*272G>A (n.*272G>A) c.681G>A (p.Leu227=) c.615G>A (p.Leu205=) | |
5 | g.42711248G>C | CA359695866 | GHR | c.660G>C (p.Leu220Phe) c.594G>C (p.Leu198Phe) c.*272G>C (n.*272G>C) c.681G>C (p.Leu227Phe) c.615G>C (p.Leu205Phe) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711248G= | CA1542304791 | GHR | c.660G= (p.Leu220=) c.594G= (p.Leu198=) c.*272G= (n.*272G=) c.681G= (p.Leu227=) c.615G= (p.Leu205=) | |
5 | g.42711248G>T | CA3254467 | GHR | c.660G>T (p.Leu220Phe) c.594G>T (p.Leu198Phe) c.*272G>T (n.*272G>T) c.681G>T (p.Leu227Phe) c.615G>T (p.Leu205Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711249A>C | CA359695869 | GHR | c.661A>C (p.Lys221Gln) c.595A>C (p.Lys199Gln) c.*273A>C (n.*273A>C) c.682A>C (p.Lys228Gln) c.616A>C (p.Lys206Gln) | |
5 | g.42711249A>G | CA359695868 | GHR | c.661A>G (p.Lys221Glu) c.595A>G (p.Lys199Glu) c.*273A>G (n.*273A>G) c.682A>G (p.Lys228Glu) c.616A>G (p.Lys206Glu) | |
5 | g.42711249A>T | CA359695867 | GHR | c.661A>T (p.Lys221Ter) c.595A>T (p.Lys199Ter) c.*273A>T (n.*273A>T) c.682A>T (p.Lys228Ter) c.616A>T (p.Lys206Ter) | gnomAD v4 |
5 | g.42711250A>C | CA359695870 | GHR | c.662A>C (p.Lys221Thr) c.596A>C (p.Lys199Thr) c.*274A>C (n.*274A>C) c.683A>C (p.Lys228Thr) c.617A>C (p.Lys206Thr) | |
5 | g.42711250A>G | CA359695871 | GHR | c.662A>G (p.Lys221Arg) c.596A>G (p.Lys199Arg) c.*274A>G (n.*274A>G) c.683A>G (p.Lys228Arg) c.617A>G (p.Lys206Arg) | |
5 | g.42711250A>T | CA359695872 | GHR | c.662A>T (p.Lys221Ile) c.596A>T (p.Lys199Ile) c.*274A>T (n.*274A>T) c.683A>T (p.Lys228Ile) c.617A>T (p.Lys206Ile) | |
5 | g.42711251A>C | CA359695873 | GHR | c.663A>C (p.Lys221Asn) c.597A>C (p.Lys199Asn) c.*275A>C (n.*275A>C) c.684A>C (p.Lys228Asn) c.618A>C (p.Lys206Asn) | |
5 | g.42711251A>G | CA443847653 | GHR | c.663A>G (p.Lys221=) c.597A>G (p.Lys199=) c.*275A>G (n.*275A>G) c.684A>G (p.Lys228=) c.618A>G (p.Lys206=) | |
5 | g.42711251A>T | CA359695874 | GHR | c.663A>T (p.Lys221Asn) c.597A>T (p.Lys199Asn) c.*275A>T (n.*275A>T) c.684A>T (p.Lys228Asn) c.618A>T (p.Lys206Asn) | |
5 | g.42711252G>A | CA359695875 | GHR | c.664G>A (p.Val222Met) c.598G>A (p.Val200Met) c.*276G>A (n.*276G>A) c.685G>A (p.Val229Met) c.619G>A (p.Val207Met) | |
5 | g.42711252G>C | CA359695876 | GHR | c.664G>C (p.Val222Leu) c.598G>C (p.Val200Leu) c.*276G>C (n.*276G>C) c.685G>C (p.Val229Leu) c.619G>C (p.Val207Leu) | |
5 | g.42711252G>T | CA359695877 | GHR | c.664G>T (p.Val222Leu) c.598G>T (p.Val200Leu) c.*276G>T (n.*276G>T) c.685G>T (p.Val229Leu) c.619G>T (p.Val207Leu) | |
5 | g.42711253T>A | CA359695878 | GHR | c.665T>A (p.Val222Glu) c.599T>A (p.Val200Glu) c.*277T>A (n.*277T>A) c.686T>A (p.Val229Glu) c.620T>A (p.Val207Glu) | |
5 | g.42711253T>C | CA359695879 | GHR | c.665T>C (p.Val222Ala) c.599T>C (p.Val200Ala) c.*277T>C (n.*277T>C) c.686T>C (p.Val229Ala) c.620T>C (p.Val207Ala) | ClinVar |
5 | g.42711253T>G | CA359695880 | GHR | c.665T>G (p.Val222Gly) c.599T>G (p.Val200Gly) c.*277T>G (n.*277T>G) c.686T>G (p.Val229Gly) c.620T>G (p.Val207Gly) | |
5 | g.42711254G>A | CA443847669 | GHR | c.666G>A (p.Val222=) c.600G>A (p.Val200=) c.*278G>A (n.*278G>A) c.687G>A (p.Val229=) c.621G>A (p.Val207=) | dbSNP COSMIC |
5 | g.42711254G>C | CA443847671 | GHR | c.666G>C (p.Val222=) c.600G>C (p.Val200=) c.*278G>C (n.*278G>C) c.687G>C (p.Val229=) c.621G>C (p.Val207=) | |
5 | g.42711254G= | CA1542304794 | GHR | c.666G= (p.Val222=) c.600G= (p.Val200=) c.*278G= (n.*278G=) c.687G= (p.Val229=) c.621G= (p.Val207=) | |
5 | g.42711254G>T | CA443847672 | GHR | c.666G>T (p.Val222=) c.600G>T (p.Val200=) c.*278G>T (n.*278G>T) c.687G>T (p.Val229=) c.621G>T (p.Val207=) | |
5 | g.42711255G>A | CA359695883 | GHR | c.667G>A (p.Asp223Asn) c.601G>A (p.Asp201Asn) c.*279G>A (n.*279G>A) c.688G>A (p.Asp230Asn) c.622G>A (p.Asp208Asn) | |
5 | g.42711255G>C | CA359695882 | GHR | c.667G>C (p.Asp223His) c.601G>C (p.Asp201His) c.*279G>C (n.*279G>C) c.688G>C (p.Asp230His) c.622G>C (p.Asp208His) | gnomAD v4 |
5 | g.42711255G>T | CA359695881 | GHR | c.667G>T (p.Asp223Tyr) c.601G>T (p.Asp201Tyr) c.*279G>T (n.*279G>T) c.688G>T (p.Asp230Tyr) c.622G>T (p.Asp208Tyr) | |
5 | g.42711256A>C | CA359695884 | GHR | c.668A>C (p.Asp223Ala) c.602A>C (p.Asp201Ala) c.*280A>C (n.*280A>C) c.689A>C (p.Asp230Ala) c.623A>C (p.Asp208Ala) | |
5 | g.42711256A>G | CA359695886 | GHR | c.668A>G (p.Asp223Gly) c.602A>G (p.Asp201Gly) c.*280A>G (n.*280A>G) c.689A>G (p.Asp230Gly) c.623A>G (p.Asp208Gly) | gnomAD v4 |
5 | g.42711256A>T | CA359695885 | GHR | c.668A>T (p.Asp223Val) c.602A>T (p.Asp201Val) c.*280A>T (n.*280A>T) c.689A>T (p.Asp230Val) c.623A>T (p.Asp208Val) | |
5 | g.42711257T>A | CA359695887 | GHR | c.669T>A (p.Asp223Glu) c.603T>A (p.Asp201Glu) c.*281T>A (n.*281T>A) c.690T>A (p.Asp230Glu) c.624T>A (p.Asp208Glu) | |
5 | g.42711257T>C | CA3254469 | GHR | c.669T>C (p.Asp223=) c.603T>C (p.Asp201=) c.*281T>C (n.*281T>C) c.690T>C (p.Asp230=) c.624T>C (p.Asp208=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42711257T>G | CA359695888 | GHR | c.669T>G (p.Asp223Glu) c.603T>G (p.Asp201Glu) c.*281T>G (n.*281T>G) c.690T>G (p.Asp230Glu) c.624T>G (p.Asp208Glu) | |
5 | g.42711257T= | CA1542304797 | GHR | c.669T= (p.Asp223=) c.603T= (p.Asp201=) c.*281T= (n.*281T=) c.690T= (p.Asp230=) c.624T= (p.Asp208=) | |
5 | g.42711257_42711258delinsTA | CA1542304799 | GHR | c.669_670delinsTA (p.Asp223=) c.603_604delinsTA (p.Asp201=) c.*281_*282delinsTA (n.*281_*282delinsTA) c.690_691delinsTA (p.Asp230=) c.624_625delinsTA (p.Asp208=) | |
5 | g.42711258A>C | CA359695889 | GHR | c.670A>C (p.Lys224Gln) c.604A>C (p.Lys202Gln) c.*282A>C (n.*282A>C) c.691A>C (p.Lys231Gln) c.625A>C (p.Lys209Gln) | |
5 | g.42711258A>G | CA359695890 | GHR | c.670A>G (p.Lys224Glu) c.604A>G (p.Lys202Glu) c.*282A>G (n.*282A>G) c.691A>G (p.Lys231Glu) c.625A>G (p.Lys209Glu) | |
5 | g.42711258A>T | CA359695891 | GHR | c.670A>T (p.Lys224Ter) c.604A>T (p.Lys202Ter) c.*282A>T (n.*282A>T) c.691A>T (p.Lys231Ter) c.625A>T (p.Lys209Ter) | |
5 | g.42711259del | CA3254468 | GHR | c.671del (p.Lys224ArgfsTer7) c.605del (p.Lys202ArgfsTer7) c.*283del (n.*283del) c.692del (p.Lys231ArgfsTer7) c.626del (p.Lys209ArgfsTer7) | dbSNP ExAC gnomAD v2 |
5 | g.42711259A>C | CA359695892 | GHR | c.671A>C (p.Lys224Thr) c.605A>C (p.Lys202Thr) c.*283A>C (n.*283A>C) c.692A>C (p.Lys231Thr) c.626A>C (p.Lys209Thr) | |
5 | g.42711259A>G | CA359695893 | GHR | c.671A>G (p.Lys224Arg) c.605A>G (p.Lys202Arg) c.*283A>G (n.*283A>G) c.692A>G (p.Lys231Arg) c.626A>G (p.Lys209Arg) | |
5 | g.42711259A>T | CA359695894 | GHR | c.671A>T (p.Lys224Met) c.605A>T (p.Lys202Met) c.*283A>T (n.*283A>T) c.692A>T (p.Lys231Met) c.626A>T (p.Lys209Met) | |
5 | g.42711260G>A | CA443847717 | GHR | c.672G>A (p.Lys224=) c.606G>A (p.Lys202=) c.*284G>A (n.*284G>A) c.693G>A (p.Lys231=) c.627G>A (p.Lys209=) | |
5 | g.42711260G>C | CA359695895 | GHR | c.672G>C (p.Lys224Asn) c.606G>C (p.Lys202Asn) c.*284G>C (n.*284G>C) c.693G>C (p.Lys231Asn) c.627G>C (p.Lys209Asn) | |
5 | g.42711260G>T | CA359695896 | GHR | c.672G>T (p.Lys224Asn) c.606G>T (p.Lys202Asn) c.*284G>T (n.*284G>T) c.693G>T (p.Lys231Asn) c.627G>T (p.Lys209Asn) | |
5 | g.42711261G>A | CA359695897 | GHR | c.673G>A (p.Glu225Lys) c.607G>A (p.Glu203Lys) c.*285G>A (n.*285G>A) c.694G>A (p.Glu232Lys) c.628G>A (p.Glu210Lys) | COSMIC |
5 | g.42711261G>C | CA359695899 | GHR | c.673G>C (p.Glu225Gln) c.607G>C (p.Glu203Gln) c.*285G>C (n.*285G>C) c.694G>C (p.Glu232Gln) c.628G>C (p.Glu210Gln) | |
5 | g.42711261G>T | CA359695898 | GHR | c.673G>T (p.Glu225Ter) c.607G>T (p.Glu203Ter) c.*285G>T (n.*285G>T) c.694G>T (p.Glu232Ter) c.628G>T (p.Glu210Ter) | |
5 | g.42711262A>C | CA359695900 | GHR | c.674A>C (p.Glu225Ala) c.608A>C (p.Glu203Ala) c.*286A>C (n.*286A>C) c.695A>C (p.Glu232Ala) c.629A>C (p.Glu210Ala) | |
5 | g.42711262A>G | CA359695901 | GHR | c.674A>G (p.Glu225Gly) c.608A>G (p.Glu203Gly) c.*286A>G (n.*286A>G) c.695A>G (p.Glu232Gly) c.629A>G (p.Glu210Gly) | |
5 | g.42711262A>T | CA359695902 | GHR | c.674A>T (p.Glu225Val) c.608A>T (p.Glu203Val) c.*286A>T (n.*286A>T) c.695A>T (p.Glu232Val) c.629A>T (p.Glu210Val) | |
5 | g.42711263A>C | CA359695903 | GHR | c.675A>C (p.Glu225Asp) c.609A>C (p.Glu203Asp) c.*287A>C (n.*287A>C) c.696A>C (p.Glu232Asp) c.630A>C (p.Glu210Asp) | |
5 | g.42711263A>G | CA443847733 | GHR | c.675A>G (p.Glu225=) c.609A>G (p.Glu203=) c.*287A>G (n.*287A>G) c.696A>G (p.Glu232=) c.630A>G (p.Glu210=) | ClinVar |
5 | g.42711263A>T | CA359695904 | GHR | c.675A>T (p.Glu225Asp) c.609A>T (p.Glu203Asp) c.*287A>T (n.*287A>T) c.696A>T (p.Glu232Asp) c.630A>T (p.Glu210Asp) | |
5 | g.42711264T>A | CA359695905 | GHR | c.676T>A (p.Tyr226Asn) c.610T>A (p.Tyr204Asn) c.*288T>A (n.*288T>A) c.697T>A (p.Tyr233Asn) c.631T>A (p.Tyr211Asn) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42711264T>C | CA359695906 | GHR | c.676T>C (p.Tyr226His) c.610T>C (p.Tyr204His) c.*288T>C (n.*288T>C) c.697T>C (p.Tyr233His) c.631T>C (p.Tyr211His) | |
5 | g.42711264T>G | CA359695907 | GHR | c.676T>G (p.Tyr226Asp) c.610T>G (p.Tyr204Asp) c.*288T>G (n.*288T>G) c.697T>G (p.Tyr233Asp) c.631T>G (p.Tyr211Asp) | |
5 | g.42711264T= | CA1542304809 | GHR | c.676T= (p.Tyr226=) c.610T= (p.Tyr204=) c.*288T= (n.*288T=) c.697T= (p.Tyr233=) c.631T= (p.Tyr211=) | |
5 | g.42711265A= | CA1542304812 | GHR | c.677A= (p.Tyr226=) c.611A= (p.Tyr204=) c.*289A= (n.*289A=) c.698A= (p.Tyr233=) c.632A= (p.Tyr211=) | |
5 | g.42711265A>C | CA359695908 | GHR | c.677A>C (p.Tyr226Ser) c.611A>C (p.Tyr204Ser) c.*289A>C (n.*289A>C) c.698A>C (p.Tyr233Ser) c.632A>C (p.Tyr211Ser) | |
5 | g.42711265A>G | CA359695909 | GHR | c.677A>G (p.Tyr226Cys) c.611A>G (p.Tyr204Cys) c.*289A>G (n.*289A>G) c.698A>G (p.Tyr233Cys) c.632A>G (p.Tyr211Cys) | |
5 | g.42711265A>T | CA3254470 | GHR | c.677A>T (p.Tyr226Phe) c.611A>T (p.Tyr204Phe) c.*289A>T (n.*289A>T) c.698A>T (p.Tyr233Phe) c.632A>T (p.Tyr211Phe) | dbSNP ExAC |
5 | g.42711266T>A | CA359695910 | GHR | c.678T>A (p.Tyr226Ter) c.612T>A (p.Tyr204Ter) c.*290T>A (n.*290T>A) c.699T>A (p.Tyr233Ter) c.633T>A (p.Tyr211Ter) | |
5 | g.42711266T>C | CA443847750 | GHR | c.678T>C (p.Tyr226=) c.612T>C (p.Tyr204=) c.*290T>C (n.*290T>C) c.699T>C (p.Tyr233=) c.633T>C (p.Tyr211=) | gnomAD v4 |
5 | g.42711266T>G | CA359695911 | GHR | c.678T>G (p.Tyr226Ter) c.612T>G (p.Tyr204Ter) c.*290T>G (n.*290T>G) c.699T>G (p.Tyr233Ter) c.633T>G (p.Tyr211Ter) | |
5 | g.42711267G>A | CA359695912 | GHR | c.679G>A (p.Glu227Lys) c.613G>A (p.Glu205Lys) c.*291G>A (n.*291G>A) c.700G>A (p.Glu234Lys) c.634G>A (p.Glu212Lys) | COSMIC |
5 | g.42711267G>C | CA359695913 | GHR | c.679G>C (p.Glu227Gln) c.613G>C (p.Glu205Gln) c.*291G>C (n.*291G>C) c.700G>C (p.Glu234Gln) c.634G>C (p.Glu212Gln) | |
5 | g.42711267G>T | CA359695914 | GHR | c.679G>T (p.Glu227Ter) c.613G>T (p.Glu205Ter) c.*291G>T (n.*291G>T) c.700G>T (p.Glu234Ter) c.634G>T (p.Glu212Ter) | |
5 | g.42711268A>C | CA359695915 | GHR | c.680A>C (p.Glu227Ala) c.614A>C (p.Glu205Ala) c.*292A>C (n.*292A>C) c.701A>C (p.Glu234Ala) c.635A>C (p.Glu212Ala) | |
5 | g.42711268A>G | CA359695916 | GHR | c.680A>G (p.Glu227Gly) c.614A>G (p.Glu205Gly) c.*292A>G (n.*292A>G) c.701A>G (p.Glu234Gly) c.635A>G (p.Glu212Gly) | |
5 | g.42711268A>T | CA359695917 | GHR | c.680A>T (p.Glu227Val) c.614A>T (p.Glu205Val) c.*292A>T (n.*292A>T) c.701A>T (p.Glu234Val) c.635A>T (p.Glu212Val) | |
5 | g.42711269A= | CA1542304817 | GHR | c.681A= (p.Glu227=) c.615A= (p.Glu205=) c.*293A= (n.*293A=) c.702A= (p.Glu234=) c.636A= (p.Glu212=) | |
5 | g.42711269A>C | CA3254471 | GHR | c.681A>C (p.Glu227Asp) c.615A>C (p.Glu205Asp) c.*293A>C (n.*293A>C) c.702A>C (p.Glu234Asp) c.636A>C (p.Glu212Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42711269A>G | CA443847769 | GHR | c.681A>G (p.Glu227=) c.615A>G (p.Glu205=) c.*293A>G (n.*293A>G) c.702A>G (p.Glu234=) c.636A>G (p.Glu212=) | |
5 | g.42711269A>T | CA359695918 | GHR | c.681A>T (p.Glu227Asp) c.615A>T (p.Glu205Asp) c.*293A>T (n.*293A>T) c.702A>T (p.Glu234Asp) c.636A>T (p.Glu212Asp) | |
5 | g.42711270G>A | CA359695919 | GHR | c.682G>A (p.Val228Met) c.616G>A (p.Val206Met) c.*294G>A (n.*294G>A) c.703G>A (p.Val235Met) c.637G>A (p.Val213Met) | |
5 | g.42711270G>C | CA359695920 | GHR | c.682G>C (p.Val228Leu) c.616G>C (p.Val206Leu) c.*294G>C (n.*294G>C) c.703G>C (p.Val235Leu) c.637G>C (p.Val213Leu) | |
5 | g.42711270G>T | CA359695921 | GHR | c.682G>T (p.Val228Leu) c.616G>T (p.Val206Leu) c.*294G>T (n.*294G>T) c.703G>T (p.Val235Leu) c.637G>T (p.Val213Leu) | |
5 | g.42711271T>A | CA359695922 | GHR | c.683T>A (p.Val228Glu) c.617T>A (p.Val206Glu) c.*295T>A (n.*295T>A) c.704T>A (p.Val235Glu) c.638T>A (p.Val213Glu) | |
5 | g.42711271T>C | CA359695923 | GHR | c.683T>C (p.Val228Ala) c.617T>C (p.Val206Ala) c.*295T>C (n.*295T>C) c.704T>C (p.Val235Ala) c.638T>C (p.Val213Ala) | |
5 | g.42711271T>G | CA359695924 | GHR | c.683T>G (p.Val228Gly) c.617T>G (p.Val206Gly) c.*295T>G (n.*295T>G) c.704T>G (p.Val235Gly) c.638T>G (p.Val213Gly) | dbSNP |
5 | g.42711271T= | CA1542304821 | GHR | c.683T= (p.Val228=) c.617T= (p.Val206=) c.*295T= (n.*295T=) c.704T= (p.Val235=) c.638T= (p.Val213=) | |
5 | g.42711272G>A | CA3254472 | GHR | c.684G>A (p.Val228=) c.618G>A (p.Val206=) c.*296G>A (n.*296G>A) c.705G>A (p.Val235=) c.639G>A (p.Val213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711272G>C | CA443847786 | GHR | c.684G>C (p.Val228=) c.618G>C (p.Val206=) c.*296G>C (n.*296G>C) c.705G>C (p.Val235=) c.639G>C (p.Val213=) | gnomAD v4 |
5 | g.42711272G= | CA1542304827 | GHR | c.684G= (p.Val228=) c.618G= (p.Val206=) c.*296G= (n.*296G=) c.705G= (p.Val235=) c.639G= (p.Val213=) | |
5 | g.42711272G>T | CA443847788 | GHR | c.684G>T (p.Val228=) c.618G>T (p.Val206=) c.*296G>T (n.*296G>T) c.705G>T (p.Val235=) c.639G>T (p.Val213=) | |
5 | g.42711273C>A | CA359695925 | GHR | c.685C>A (p.Arg229Ser) c.619C>A (p.Arg207Ser) c.*297C>A (n.*297C>A) c.706C>A (p.Arg236Ser) c.640C>A (p.Arg214Ser) | gnomAD v4 |
5 | g.42711273C= | CA1542304833 | GHR | c.685C= (p.Arg229=) c.619C= (p.Arg207=) c.*297C= (n.*297C=) c.706C= (p.Arg236=) c.640C= (p.Arg214=) | |
5 | g.42711273C>G | CA359695926 | GHR | c.685C>G (p.Arg229Gly) c.619C>G (p.Arg207Gly) c.*297C>G (n.*297C>G) c.706C>G (p.Arg236Gly) c.640C>G (p.Arg214Gly) | ClinVar |
5 | g.42711273C>T | CA3254473 | GHR | c.685C>T (p.Arg229Cys) c.619C>T (p.Arg207Cys) c.*297C>T (n.*297C>T) c.706C>T (p.Arg236Cys) c.640C>T (p.Arg214Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.42711274G>A | CA3254474 | GHR | c.686G>A (p.Arg229His) c.620G>A (p.Arg207His) c.*298G>A (n.*298G>A) c.707G>A (p.Arg236His) c.641G>A (p.Arg214His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42711274G>C | CA359695927 | GHR | c.686G>C (p.Arg229Pro) c.620G>C (p.Arg207Pro) c.*298G>C (n.*298G>C) c.707G>C (p.Arg236Pro) c.641G>C (p.Arg214Pro) | |
5 | g.42711274G= | CA1542304838 | GHR | c.686G= (p.Arg229=) c.620G= (p.Arg207=) c.*298G= (n.*298G=) c.707G= (p.Arg236=) c.641G= (p.Arg214=) | |
5 | g.42711274G>T | CA3254475 | GHR | c.686G>T (p.Arg229Leu) c.620G>T (p.Arg207Leu) c.*298G>T (n.*298G>T) c.707G>T (p.Arg236Leu) c.641G>T (p.Arg214Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42711275T>A | CA443847804 | GHR | c.687T>A (p.Arg229=) c.621T>A (p.Arg207=) c.*299T>A (n.*299T>A) c.708T>A (p.Arg236=) c.642T>A (p.Arg214=) | |
5 | g.42711275T>C | CA443847807 | GHR | c.687T>C (p.Arg229=) c.621T>C (p.Arg207=) c.*299T>C (n.*299T>C) c.708T>C (p.Arg236=) c.642T>C (p.Arg214=) | |
5 | g.42711275T>G | CA443847806 | GHR | c.687T>G (p.Arg229=) c.621T>G (p.Arg207=) c.*299T>G (n.*299T>G) c.708T>G (p.Arg236=) c.642T>G (p.Arg214=) | |
5 | g.42711276G>A | CA359695928 | GHR | c.688G>A (p.Val230Met) c.622G>A (p.Val208Met) c.*300G>A (n.*300G>A) c.709G>A (p.Val237Met) c.643G>A (p.Val215Met) | |
5 | g.42711276G>C | CA359695929 | GHR | c.688G>C (p.Val230Leu) c.622G>C (p.Val208Leu) c.*300G>C (n.*300G>C) c.709G>C (p.Val237Leu) c.643G>C (p.Val215Leu) | |
5 | g.42711276G>T | CA359695930 | GHR | c.688G>T (p.Val230Leu) c.622G>T (p.Val208Leu) c.*300G>T (n.*300G>T) c.709G>T (p.Val237Leu) c.643G>T (p.Val215Leu) | gnomAD v4 |
5 | g.42711277T>A | CA359695931 | GHR | c.689T>A (p.Val230Glu) c.623T>A (p.Val208Glu) c.*301T>A (n.*301T>A) c.710T>A (p.Val237Glu) c.644T>A (p.Val215Glu) | |
5 | g.42711277T>C | CA359695932 | GHR | c.689T>C (p.Val230Ala) c.623T>C (p.Val208Ala) c.*301T>C (n.*301T>C) c.710T>C (p.Val237Ala) c.644T>C (p.Val215Ala) | |
5 | g.42711277T>G | CA359695933 | GHR | c.689T>G (p.Val230Gly) c.623T>G (p.Val208Gly) c.*301T>G (n.*301T>G) c.710T>G (p.Val237Gly) c.644T>G (p.Val215Gly) | gnomAD v4 |
5 | g.42711278G>A | CA443847814 | GHR | c.690G>A (p.Val230=) c.624G>A (p.Val208=) c.*302G>A (n.*302G>A) c.711G>A (p.Val237=) c.645G>A (p.Val215=) | |
5 | g.42711278G>C | CA443847817 | GHR | c.690G>C (p.Val230=) c.624G>C (p.Val208=) c.*302G>C (n.*302G>C) c.711G>C (p.Val237=) c.645G>C (p.Val215=) | |
5 | g.42711278G>T | CA443847818 | GHR | c.690G>T (p.Val230=) c.624G>T (p.Val208=) c.*302G>T (n.*302G>T) c.711G>T (p.Val237=) c.645G>T (p.Val215=) | |
5 | g.42711279A= | CA1542304844 | GHR | c.691A= (p.Arg231=) c.625A= (p.Arg209=) c.*303A= (n.*303A=) c.712A= (p.Arg238=) c.646A= (p.Arg216=) | |
5 | g.42711279A>C | CA3254476 | GHR | c.691A>C (p.Arg231=) c.625A>C (p.Arg209=) c.*303A>C (n.*303A>C) c.712A>C (p.Arg238=) c.646A>C (p.Arg216=) | dbSNP ExAC gnomAD v2 |
5 | g.42711279A>G | CA359695935 | GHR | c.691A>G (p.Arg231Gly) c.625A>G (p.Arg209Gly) c.*303A>G (n.*303A>G) c.712A>G (p.Arg238Gly) c.646A>G (p.Arg216Gly) | dbSNP |
5 | g.42711279A>T | CA359695934 | GHR | c.691A>T (p.Arg231Ter) c.625A>T (p.Arg209Ter) c.*303A>T (n.*303A>T) c.712A>T (p.Arg238Ter) c.646A>T (p.Arg216Ter) | |
5 | g.42711280G>A | CA3254477 | GHR | c.692G>A (p.Arg231Lys) c.626G>A (p.Arg209Lys) c.*304G>A (n.*304G>A) c.713G>A (p.Arg238Lys) c.647G>A (p.Arg216Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42711280G>C | CA359695937 | GHR | c.692G>C (p.Arg231Thr) c.626G>C (p.Arg209Thr) c.*304G>C (n.*304G>C) c.713G>C (p.Arg238Thr) c.647G>C (p.Arg216Thr) | |
5 | g.42711280G= | CA1542304847 | GHR | c.692G= (p.Arg231=) c.626G= (p.Arg209=) c.*304G= (n.*304G=) c.713G= (p.Arg238=) c.647G= (p.Arg216=) | |
5 | g.42711280G>T | CA359695936 | GHR | c.692G>T (p.Arg231Ile) c.626G>T (p.Arg209Ile) c.*304G>T (n.*304G>T) c.713G>T (p.Arg238Ile) c.647G>T (p.Arg216Ile) | |
5 | g.42711281A>C | CA359695938 | GHR | c.693A>C (p.Arg231Ser) c.627A>C (p.Arg209Ser) c.*305A>C (n.*305A>C) c.714A>C (p.Arg238Ser) c.648A>C (p.Arg216Ser) | |
5 | g.42711281A>G | CA443847827 | GHR | c.693A>G (p.Arg231=) c.627A>G (p.Arg209=) c.*305A>G (n.*305A>G) c.714A>G (p.Arg238=) c.648A>G (p.Arg216=) | |
5 | g.42711281A>T | CA359695939 | GHR | c.693A>T (p.Arg231Ser) c.627A>T (p.Arg209Ser) c.*305A>T (n.*305A>T) c.714A>T (p.Arg238Ser) c.648A>T (p.Arg216Ser) | |
5 | g.42711282T>A | CA359695940 | GHR | c.694T>A (p.Ser232Thr) c.628T>A (p.Ser210Thr) c.*306T>A (n.*306T>A) c.715T>A (p.Ser239Thr) c.649T>A (p.Ser217Thr) | |
5 | g.42711282T>C | CA359695941 | GHR | c.694T>C (p.Ser232Pro) c.628T>C (p.Ser210Pro) c.*306T>C (n.*306T>C) c.715T>C (p.Ser239Pro) c.649T>C (p.Ser217Pro) | |
5 | g.42711282T>G | CA359695942 | GHR | c.694T>G (p.Ser232Ala) c.628T>G (p.Ser210Ala) c.*306T>G (n.*306T>G) c.715T>G (p.Ser239Ala) c.649T>G (p.Ser217Ala) | gnomAD v4 |
5 | g.42711283C>A | CA359695943 | GHR | c.695C>A (p.Ser232Tyr) c.629C>A (p.Ser210Tyr) c.*307C>A (n.*307C>A) c.716C>A (p.Ser239Tyr) c.650C>A (p.Ser217Tyr) | |
5 | g.42711283C>G | CA359695944 | GHR | c.695C>G (p.Ser232Cys) c.629C>G (p.Ser210Cys) c.*307C>G (n.*307C>G) c.716C>G (p.Ser239Cys) c.650C>G (p.Ser217Cys) | |
5 | g.42711283C>T | CA359695945 | GHR | c.695C>T (p.Ser232Phe) c.629C>T (p.Ser210Phe) c.*307C>T (n.*307C>T) c.716C>T (p.Ser239Phe) c.650C>T (p.Ser217Phe) | |
5 | g.42711284C>A | CA443847835 | GHR | c.696C>A (p.Ser232=) c.630C>A (p.Ser210=) c.*308C>A (n.*308C>A) c.717C>A (p.Ser239=) c.651C>A (p.Ser217=) | |
5 | g.42711284C>G | CA443847837 | GHR | c.696C>G (p.Ser232=) c.630C>G (p.Ser210=) c.*308C>G (n.*308C>G) c.717C>G (p.Ser239=) c.651C>G (p.Ser217=) | |
5 | g.42711284C>T | CA443847839 | GHR | c.696C>T (p.Ser232=) c.630C>T (p.Ser210=) c.*308C>T (n.*308C>T) c.717C>T (p.Ser239=) c.651C>T (p.Ser217=) | |
5 | g.42711285A>C | CA359695948 | GHR | c.697A>C (p.Lys233Gln) c.631A>C (p.Lys211Gln) c.*309A>C (n.*309A>C) c.718A>C (p.Lys240Gln) c.652A>C (p.Lys218Gln) | |
5 | g.42711285A>G | CA359695946 | GHR | c.697A>G (p.Lys233Glu) c.631A>G (p.Lys211Glu) c.*309A>G (n.*309A>G) c.718A>G (p.Lys240Glu) c.652A>G (p.Lys218Glu) | |
5 | g.42711285A>T | CA359695947 | GHR | c.697A>T (p.Lys233Ter) c.631A>T (p.Lys211Ter) c.*309A>T (n.*309A>T) c.718A>T (p.Lys240Ter) c.652A>T (p.Lys218Ter) | ClinVar |
5 | g.42711286A>C | CA359695949 | GHR | c.698A>C (p.Lys233Thr) c.632A>C (p.Lys211Thr) c.*310A>C (n.*310A>C) c.719A>C (p.Lys240Thr) c.653A>C (p.Lys218Thr) | |
5 | g.42711286A>G | CA359695950 | GHR | c.698A>G (p.Lys233Arg) c.632A>G (p.Lys211Arg) c.*310A>G (n.*310A>G) c.719A>G (p.Lys240Arg) c.653A>G (p.Lys218Arg) | |
5 | g.42711286A>T | CA359695951 | GHR | c.698A>T (p.Lys233Ile) c.632A>T (p.Lys211Ile) c.*310A>T (n.*310A>T) c.719A>T (p.Lys240Ile) c.653A>T (p.Lys218Ile) | |
5 | g.42711287A= | CA1542304853 | GHR | c.699A= (p.Lys233=) c.633A= (p.Lys211=) c.*311A= (n.*311A=) c.720A= (p.Lys240=) c.654A= (p.Lys218=) | |
5 | g.42711287A>C | CA359695952 | GHR | c.699A>C (p.Lys233Asn) c.633A>C (p.Lys211Asn) c.*311A>C (n.*311A>C) c.720A>C (p.Lys240Asn) c.654A>C (p.Lys218Asn) | |
5 | g.42711287A>G | CA443847846 | GHR | c.699A>G (p.Lys233=) c.633A>G (p.Lys211=) c.*311A>G (n.*311A>G) c.720A>G (p.Lys240=) c.654A>G (p.Lys218=) | ClinVar dbSNP gnomAD v4 |
5 | g.42711287A>T | CA359695953 | GHR | c.699A>T (p.Lys233Asn) c.633A>T (p.Lys211Asn) c.*311A>T (n.*311A>T) c.720A>T (p.Lys240Asn) c.654A>T (p.Lys218Asn) | |
5 | g.42711288C>A | CA359695954 | GHR | c.700C>A (p.Gln234Lys) c.634C>A (p.Gln212Lys) c.*312C>A (n.*312C>A) c.721C>A (p.Gln241Lys) c.655C>A (p.Gln219Lys) | gnomAD v4 |
5 | g.42711288C>G | CA359695956 | GHR | c.700C>G (p.Gln234Glu) c.634C>G (p.Gln212Glu) c.*312C>G (n.*312C>G) c.721C>G (p.Gln241Glu) c.655C>G (p.Gln219Glu) | |
5 | g.42711288C>T | CA359695955 | GHR | c.700C>T (p.Gln234Ter) c.634C>T (p.Gln212Ter) c.*312C>T (n.*312C>T) c.721C>T (p.Gln241Ter) c.655C>T (p.Gln219Ter) | |
5 | g.42711289A= | CA1542304854 | GHR | c.701A= (p.Gln234=) c.635A= (p.Gln212=) c.*313A= (n.*313A=) c.722A= (p.Gln241=) c.656A= (p.Gln219=) | |
5 | g.42711289A>C | CA359695957 | GHR | c.701A>C (p.Gln234Pro) c.635A>C (p.Gln212Pro) c.*313A>C (n.*313A>C) c.722A>C (p.Gln241Pro) c.656A>C (p.Gln219Pro) | |
5 | g.42711289A>G | CA359695958 | GHR | c.701A>G (p.Gln234Arg) c.635A>G (p.Gln212Arg) c.*313A>G (n.*313A>G) c.722A>G (p.Gln241Arg) c.656A>G (p.Gln219Arg) | |
5 | g.42711289A>T | CA359695959 | GHR | c.701A>T (p.Gln234Leu) c.635A>T (p.Gln212Leu) c.*313A>T (n.*313A>T) c.722A>T (p.Gln241Leu) c.656A>T (p.Gln219Leu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42711289_42711290insCACCCAACAC | CA2766052882 | GHR | c.701_702insCACCCAACAC (p.Gln234HisfsTer15) c.635_636insCACCCAACAC (p.Gln212HisfsTer15) c.*313_*314insCACCCAACAC (n.*313_*314insCACCCAACAC) c.722_723insCACCCAACAC (p.Gln241HisfsTer15) c.656_657insCACCCAACAC (p.Gln219HisfsTer15) | |
5 | g.42711290A>C | CA359695960 | GHR | c.702A>C (p.Gln234His) c.636A>C (p.Gln212His) c.*314A>C (n.*314A>C) c.723A>C (p.Gln241His) c.657A>C (p.Gln219His) | |
5 | g.42711290A>G | CA443847856 | GHR | c.702A>G (p.Gln234=) c.636A>G (p.Gln212=) c.*314A>G (n.*314A>G) c.723A>G (p.Gln241=) c.657A>G (p.Gln219=) | |
5 | g.42711290A>T | CA359695961 | GHR | c.702A>T (p.Gln234His) c.636A>T (p.Gln212His) c.*314A>T (n.*314A>T) c.723A>T (p.Gln241His) c.657A>T (p.Gln219His) | COSMIC |
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) |