Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.42699793_42699796del | CA559293421 | GHR | c.440-31_440-28del (n.440-31_440-28del) c.374-31_374-28del (n.374-31_374-28del) c.*52-31_*52-28del (n.*52-31_*52-28del) c.461-31_461-28del (n.461-31_461-28del) c.395-31_395-28del (n.395-31_395-28del) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42699796T>C | CA2673723823 | GHR | c.440-28T>C (n.440-28T>C) c.374-28T>C (n.374-28T>C) c.*52-28T>C (n.*52-28T>C) c.461-28T>C (n.461-28T>C) c.395-28T>C (n.395-28T>C) | gnomAD v4 |
5 | g.42699797G>A | CA2578302108 | GHR | c.440-27G>A (n.440-27G>A) c.374-27G>A (n.374-27G>A) c.*52-27G>A (n.*52-27G>A) c.461-27G>A (n.461-27G>A) c.395-27G>A (n.395-27G>A) | gnomAD v4 |
5 | g.42699798T>A | CA2673723824 | GHR | c.440-26T>A (n.440-26T>A) c.374-26T>A (n.374-26T>A) c.*52-26T>A (n.*52-26T>A) c.461-26T>A (n.461-26T>A) c.395-26T>A (n.395-26T>A) | gnomAD v4 |
5 | g.42699798T>C | CA2673723825 | GHR | c.440-26T>C (n.440-26T>C) c.374-26T>C (n.374-26T>C) c.*52-26T>C (n.*52-26T>C) c.461-26T>C (n.461-26T>C) c.395-26T>C (n.395-26T>C) | gnomAD v4 |
5 | g.42699799A= | CA1542293889 | GHR | c.440-25A= (n.440-25A=) c.374-25A= (n.374-25A=) c.*52-25A= (n.*52-25A=) c.461-25A= (n.461-25A=) c.395-25A= (n.395-25A=) | |
5 | g.42699799A>C | CA2578302109 | GHR | c.440-25A>C (n.440-25A>C) c.374-25A>C (n.374-25A>C) c.*52-25A>C (n.*52-25A>C) c.461-25A>C (n.461-25A>C) c.395-25A>C (n.395-25A>C) | |
5 | g.42699799A>G | CA810827798 | GHR | c.440-25A>G (n.440-25A>G) c.374-25A>G (n.374-25A>G) c.*52-25A>G (n.*52-25A>G) c.461-25A>G (n.461-25A>G) c.395-25A>G (n.395-25A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42699799A>T | CA2673723826 | GHR | c.440-25A>T (n.440-25A>T) c.374-25A>T (n.374-25A>T) c.*52-25A>T (n.*52-25A>T) c.461-25A>T (n.461-25A>T) c.395-25A>T (n.395-25A>T) | gnomAD v4 |
5 | g.42699800C>A | CA2673723829 | GHR | c.440-24C>A (n.440-24C>A) c.374-24C>A (n.374-24C>A) c.*52-24C>A (n.*52-24C>A) c.461-24C>A (n.461-24C>A) c.395-24C>A (n.395-24C>A) | gnomAD v4 |
5 | g.42699800C>G | CA2673723828 | GHR | c.440-24C>G (n.440-24C>G) c.374-24C>G (n.374-24C>G) c.*52-24C>G (n.*52-24C>G) c.461-24C>G (n.461-24C>G) c.395-24C>G (n.395-24C>G) | gnomAD v4 |
5 | g.42699800C>T | CA2673723827 | GHR | c.440-24C>T (n.440-24C>T) c.374-24C>T (n.374-24C>T) c.*52-24C>T (n.*52-24C>T) c.461-24C>T (n.461-24C>T) c.395-24C>T (n.395-24C>T) | gnomAD v4 |
5 | g.42699801T>C | CA2673723830 | GHR | c.440-23T>C (n.440-23T>C) c.374-23T>C (n.374-23T>C) c.*52-23T>C (n.*52-23T>C) c.461-23T>C (n.461-23T>C) c.395-23T>C (n.395-23T>C) | gnomAD v4 |
5 | g.42699801T>G | CA2673723831 | GHR | c.440-23T>G (n.440-23T>G) c.374-23T>G (n.374-23T>G) c.*52-23T>G (n.*52-23T>G) c.461-23T>G (n.461-23T>G) c.395-23T>G (n.395-23T>G) | gnomAD v4 |
5 | g.42699802A>C | CA2578302110 | GHR | c.440-22A>C (n.440-22A>C) c.374-22A>C (n.374-22A>C) c.*52-22A>C (n.*52-22A>C) c.461-22A>C (n.461-22A>C) c.395-22A>C (n.395-22A>C) | |
5 | g.42699802A>G | CA2673723833 | GHR | c.440-22A>G (n.440-22A>G) c.374-22A>G (n.374-22A>G) c.*52-22A>G (n.*52-22A>G) c.461-22A>G (n.461-22A>G) c.395-22A>G (n.395-22A>G) | gnomAD v4 |
5 | g.42699802A>T | CA2673723834 | GHR | c.440-22A>T (n.440-22A>T) c.374-22A>T (n.374-22A>T) c.*52-22A>T (n.*52-22A>T) c.461-22A>T (n.461-22A>T) c.395-22A>T (n.395-22A>T) | gnomAD v4 |
5 | g.42699803del | CA2673723832 | GHR | c.440-21del (n.440-21del) c.374-21del (n.374-21del) c.*52-21del (n.*52-21del) c.461-21del (n.461-21del) c.395-21del (n.395-21del) | gnomAD v4 |
5 | g.42699803A>G | CA2673723835 | GHR | c.440-21A>G (n.440-21A>G) c.374-21A>G (n.374-21A>G) c.*52-21A>G (n.*52-21A>G) c.461-21A>G (n.461-21A>G) c.395-21A>G (n.395-21A>G) | gnomAD v4 |
5 | g.42699804T>C | CA2673723836 | GHR | c.440-20T>C (n.440-20T>C) c.374-20T>C (n.374-20T>C) c.*52-20T>C (n.*52-20T>C) c.461-20T>C (n.461-20T>C) c.395-20T>C (n.395-20T>C) | gnomAD v4 |
5 | g.42699805G>A | CA2739274695 | GHR | c.440-19G>A (n.440-19G>A) c.374-19G>A (n.374-19G>A) c.*52-19G>A (n.*52-19G>A) c.461-19G>A (n.461-19G>A) c.395-19G>A (n.395-19G>A) | ClinVar |
5 | g.42699805G>C | CA2673723837 | GHR | c.440-19G>C (n.440-19G>C) c.374-19G>C (n.374-19G>C) c.*52-19G>C (n.*52-19G>C) c.461-19G>C (n.461-19G>C) c.395-19G>C (n.395-19G>C) | ClinVar gnomAD v4 |
5 | g.42699805G>T | CA2673723838 | GHR | c.440-19G>T (n.440-19G>T) c.374-19G>T (n.374-19G>T) c.*52-19G>T (n.*52-19G>T) c.461-19G>T (n.461-19G>T) c.395-19G>T (n.395-19G>T) | gnomAD v4 |
5 | g.42699806C>A | CA2673723839 | GHR | c.440-18C>A (n.440-18C>A) c.374-18C>A (n.374-18C>A) c.*52-18C>A (n.*52-18C>A) c.461-18C>A (n.461-18C>A) c.395-18C>A (n.395-18C>A) | gnomAD v4 |
5 | g.42699806C= | CA1542293891 | GHR | c.440-18C= (n.440-18C=) c.374-18C= (n.374-18C=) c.*52-18C= (n.*52-18C=) c.461-18C= (n.461-18C=) c.395-18C= (n.395-18C=) | |
5 | g.42699806C>T | CA1542293892 | GHR | c.440-18C>T (n.440-18C>T) c.374-18C>T (n.374-18C>T) c.*52-18C>T (n.*52-18C>T) c.461-18C>T (n.461-18C>T) c.395-18C>T (n.395-18C>T) | dbSNP |
5 | g.42699807T>C | CA2673723840 | GHR | c.440-17T>C (n.440-17T>C) c.374-17T>C (n.374-17T>C) c.*52-17T>C (n.*52-17T>C) c.461-17T>C (n.461-17T>C) c.395-17T>C (n.395-17T>C) | gnomAD v4 |
5 | g.42699808C>A | CA2673723841 | GHR | c.440-16C>A (n.440-16C>A) c.374-16C>A (n.374-16C>A) c.*52-16C>A (n.*52-16C>A) c.461-16C>A (n.461-16C>A) c.395-16C>A (n.395-16C>A) | gnomAD v4 |
5 | g.42699809T>C | CA2673723842 | GHR | c.440-15T>C (n.440-15T>C) c.374-15T>C (n.374-15T>C) c.*52-15T>C (n.*52-15T>C) c.461-15T>C (n.461-15T>C) c.395-15T>C (n.395-15T>C) | gnomAD v4 |
5 | g.42699811T>A | CA2673723843 | GHR | c.440-13T>A (n.440-13T>A) c.374-13T>A (n.374-13T>A) c.*52-13T>A (n.*52-13T>A) c.461-13T>A (n.461-13T>A) c.395-13T>A (n.395-13T>A) | ClinVar gnomAD v4 |
5 | g.42699811T>C | CA1075504492 | GHR | c.440-13T>C (n.440-13T>C) c.374-13T>C (n.374-13T>C) c.*52-13T>C (n.*52-13T>C) c.461-13T>C (n.461-13T>C) c.395-13T>C (n.395-13T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42699811T= | CA1542293895 | GHR | c.440-13T= (n.440-13T=) c.374-13T= (n.374-13T=) c.*52-13T= (n.*52-13T=) c.461-13T= (n.461-13T=) c.395-13T= (n.395-13T=) | |
5 | g.42699813G>C | CA2766052430 | GHR | c.440-11G>C (n.440-11G>C) c.374-11G>C (n.374-11G>C) c.*52-11G>C (n.*52-11G>C) c.461-11G>C (n.461-11G>C) c.395-11G>C (n.395-11G>C) | |
5 | g.42699814A>G | CA2673723844 | GHR | c.440-10A>G (n.440-10A>G) c.374-10A>G (n.374-10A>G) c.*52-10A>G (n.*52-10A>G) c.461-10A>G (n.461-10A>G) c.395-10A>G (n.395-10A>G) | gnomAD v4 |
5 | g.42699816T>C | CA559293423 | GHR | c.440-8T>C (n.440-8T>C) c.374-8T>C (n.374-8T>C) c.*52-8T>C (n.*52-8T>C) c.461-8T>C (n.461-8T>C) c.395-8T>C (n.395-8T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42699816T= | CA1542293899 | GHR | c.440-8T= (n.440-8T=) c.374-8T= (n.374-8T=) c.*52-8T= (n.*52-8T=) c.461-8T= (n.461-8T=) c.395-8T= (n.395-8T=) | |
5 | g.42699817T>C | CA3254411 | GHR | c.440-7T>C (n.440-7T>C) c.374-7T>C (n.374-7T>C) c.*52-7T>C (n.*52-7T>C) c.461-7T>C (n.461-7T>C) c.395-7T>C (n.395-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699817T>G | CA2673723845 | GHR | c.440-7T>G (n.440-7T>G) c.374-7T>G (n.374-7T>G) c.*52-7T>G (n.*52-7T>G) c.461-7T>G (n.461-7T>G) c.395-7T>G (n.395-7T>G) | gnomAD v4 |
5 | g.42699817T= | CA1542293902 | GHR | c.440-7T= (n.440-7T=) c.374-7T= (n.374-7T=) c.*52-7T= (n.*52-7T=) c.461-7T= (n.461-7T=) c.395-7T= (n.395-7T=) | |
5 | g.42699818G>A | CA2578302111 | GHR | c.440-6G>A (n.440-6G>A) c.374-6G>A (n.374-6G>A) c.*52-6G>A (n.*52-6G>A) c.461-6G>A (n.461-6G>A) c.395-6G>A (n.395-6G>A) | gnomAD v4 |
5 | g.42699818G>T | CA2519454102 | GHR | c.440-6G>T (n.440-6G>T) c.374-6G>T (n.374-6G>T) c.*52-6G>T (n.*52-6G>T) c.461-6G>T (n.461-6G>T) c.395-6G>T (n.395-6G>T) | |
5 | g.42699819C>A | CA2673723846 | GHR | c.440-5C>A (n.440-5C>A) c.374-5C>A (n.374-5C>A) c.*52-5C>A (n.*52-5C>A) c.461-5C>A (n.461-5C>A) c.395-5C>A (n.395-5C>A) | gnomAD v4 |
5 | g.42699819C>T | CA2697547151 | GHR | c.440-5C>T (n.440-5C>T) c.374-5C>T (n.374-5C>T) c.*52-5C>T (n.*52-5C>T) c.461-5C>T (n.461-5C>T) c.395-5C>T (n.395-5C>T) | ClinVar |
5 | g.42699820A>G | CA2673723847 | GHR | c.440-4A>G (n.440-4A>G) c.374-4A>G (n.374-4A>G) c.*52-4A>G (n.*52-4A>G) c.461-4A>G (n.461-4A>G) c.395-4A>G (n.395-4A>G) | ClinVar gnomAD v4 |
5 | g.42699821C>A | CA2673723848 | GHR | c.440-3C>A (n.440-3C>A) c.374-3C>A (n.374-3C>A) c.*52-3C>A (n.*52-3C>A) c.461-3C>A (n.461-3C>A) c.395-3C>A (n.395-3C>A) | gnomAD v4 |
5 | g.42699821C>T | CA2673723849 | GHR | c.440-3C>T (n.440-3C>T) c.374-3C>T (n.374-3C>T) c.*52-3C>T (n.*52-3C>T) c.461-3C>T (n.461-3C>T) c.395-3C>T (n.395-3C>T) | gnomAD v4 |
5 | g.42699822A>C | CA359695377 | GHR | c.440-2A>C (n.440-2A>C) c.374-2A>C (n.374-2A>C) c.*52-2A>C (n.*52-2A>C) c.461-2A>C (n.461-2A>C) c.395-2A>C (n.395-2A>C) | gnomAD v4 |
5 | g.42699822A>G | CA359695379 | GHR | c.440-2A>G (n.440-2A>G) c.374-2A>G (n.374-2A>G) c.*52-2A>G (n.*52-2A>G) c.461-2A>G (n.461-2A>G) c.395-2A>G (n.395-2A>G) | |
5 | g.42699822A>T | CA359695378 | GHR | c.440-2A>T (n.440-2A>T) c.374-2A>T (n.374-2A>T) c.*52-2A>T (n.*52-2A>T) c.461-2A>T (n.461-2A>T) c.395-2A>T (n.395-2A>T) | |
5 | g.42699823G>A | CA3254412 | GHR | c.440-1G>A (n.440-1G>A) c.374-1G>A (n.374-1G>A) c.*52-1G>A (n.*52-1G>A) c.461-1G>A (n.461-1G>A) c.395-1G>A (n.395-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699823G>C | CA359695380 | GHR | c.440-1G>C (n.440-1G>C) c.374-1G>C (n.374-1G>C) c.*52-1G>C (n.*52-1G>C) c.461-1G>C (n.461-1G>C) c.395-1G>C (n.395-1G>C) | |
5 | g.42699823G= | CA1542293910 | GHR | c.440-1G= (n.440-1G=) c.374-1G= (n.374-1G=) c.*52-1G= (n.*52-1G=) c.461-1G= (n.461-1G=) c.395-1G= (n.395-1G=) | |
5 | g.42699823G>T | CA359695381 | GHR | c.440-1G>T (n.440-1G>T) c.374-1G>T (n.374-1G>T) c.*52-1G>T (n.*52-1G>T) c.461-1G>T (n.461-1G>T) c.395-1G>T (n.395-1G>T) | |
5 | g.42699824T>A | CA359695382 | GHR | c.440T>A (p.Val147Glu) c.374T>A (p.Val125Glu) c.*52T>A (n.*52T>A) c.461T>A (p.Val154Glu) c.395T>A (p.Val132Glu) | |
5 | g.42699824T>C | CA359695383 | GHR | c.440T>C (p.Val147Ala) c.374T>C (p.Val125Ala) c.*52T>C (n.*52T>C) c.461T>C (p.Val154Ala) c.395T>C (p.Val132Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.42699824T>G | CA359695384 | GHR | c.440T>G (p.Val147Gly) c.374T>G (p.Val125Gly) c.*52T>G (n.*52T>G) c.461T>G (p.Val154Gly) c.395T>G (p.Val132Gly) | |
5 | g.42699824T= | CA1542293916 | GHR | c.440T= (p.Val147=) c.374T= (p.Val125=) c.*52T= (n.*52T=) c.461T= (p.Val154=) c.395T= (p.Val132=) | |
5 | g.42699825G>A | CA443841689 | GHR | c.441G>A (p.Val147=) c.375G>A (p.Val125=) c.*53G>A (n.*53G>A) c.462G>A (p.Val154=) c.396G>A (p.Val132=) | ClinVar gnomAD v4 |
5 | g.42699825G>C | CA443841690 | GHR | c.441G>C (p.Val147=) c.375G>C (p.Val125=) c.*53G>C (n.*53G>C) c.462G>C (p.Val154=) c.396G>C (p.Val132=) | |
5 | g.42699825G>T | CA443841691 | GHR | c.441G>T (p.Val147=) c.375G>T (p.Val125=) c.*53G>T (n.*53G>T) c.462G>T (p.Val154=) c.396G>T (p.Val132=) | gnomAD v4 |
5 | g.42699826C>A | CA359695385 | GHR | c.442C>A (p.Gln148Lys) c.376C>A (p.Gln126Lys) c.*54C>A (n.*54C>A) c.463C>A (p.Gln155Lys) c.397C>A (p.Gln133Lys) | gnomAD v4 COSMIC |
5 | g.42699826C>G | CA359695386 | GHR | c.442C>G (p.Gln148Glu) c.376C>G (p.Gln126Glu) c.*54C>G (n.*54C>G) c.463C>G (p.Gln155Glu) c.397C>G (p.Gln133Glu) | |
5 | g.42699826C>T | CA359695387 | GHR | c.442C>T (p.Gln148Ter) c.376C>T (p.Gln126Ter) c.*54C>T (n.*54C>T) c.463C>T (p.Gln155Ter) c.397C>T (p.Gln133Ter) | gnomAD v4 |
5 | g.42699827A= | CA1542293919 | GHR | c.443A= (p.Gln148=) c.377A= (p.Gln126=) c.*55A= (n.*55A=) c.464A= (p.Gln155=) c.398A= (p.Gln133=) | |
5 | g.42699827A>C | CA359695388 | GHR | c.443A>C (p.Gln148Pro) c.377A>C (p.Gln126Pro) c.*55A>C (n.*55A>C) c.464A>C (p.Gln155Pro) c.398A>C (p.Gln133Pro) | |
5 | g.42699827A>G | CA359695389 | GHR | c.443A>G (p.Gln148Arg) c.377A>G (p.Gln126Arg) c.*55A>G (n.*55A>G) c.464A>G (p.Gln155Arg) c.398A>G (p.Gln133Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42699827A>T | CA359695390 | GHR | c.443A>T (p.Gln148Leu) c.377A>T (p.Gln126Leu) c.*55A>T (n.*55A>T) c.464A>T (p.Gln155Leu) c.398A>T (p.Gln133Leu) | |
5 | g.42699828A= | CA1542293923 | GHR | c.444A= (p.Gln148=) c.378A= (p.Gln126=) c.*56A= (n.*56A=) c.465A= (p.Gln155=) c.399A= (p.Gln133=) | |
5 | g.42699828A>C | CA359695392 | GHR | c.444A>C (p.Gln148His) c.378A>C (p.Gln126His) c.*56A>C (n.*56A>C) c.465A>C (p.Gln155His) c.399A>C (p.Gln133His) | |
5 | g.42699828A>G | CA443841694 | GHR | c.444A>G (p.Gln148=) c.378A>G (p.Gln126=) c.*56A>G (n.*56A>G) c.465A>G (p.Gln155=) c.399A>G (p.Gln133=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42699828A>T | CA359695391 | GHR | c.444A>T (p.Gln148His) c.378A>T (p.Gln126His) c.*56A>T (n.*56A>T) c.465A>T (p.Gln155His) c.399A>T (p.Gln133His) | |
5 | g.42699829C>A | CA359695393 | GHR | c.445C>A (p.Pro149Thr) c.379C>A (p.Pro127Thr) c.*57C>A (n.*57C>A) c.466C>A (p.Pro156Thr) c.400C>A (p.Pro134Thr) | gnomAD v4 |
5 | g.42699829C= | CA1542293927 | GHR | c.445C= (p.Pro149=) c.379C= (p.Pro127=) c.*57C= (n.*57C=) c.466C= (p.Pro156=) c.400C= (p.Pro134=) | |
5 | g.42699829C>G | CA359695394 | GHR | c.445C>G (p.Pro149Ala) c.379C>G (p.Pro127Ala) c.*57C>G (n.*57C>G) c.466C>G (p.Pro156Ala) c.400C>G (p.Pro134Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699829C>T | CA118048237 | GHR | c.445C>T (p.Pro149Ser) c.379C>T (p.Pro127Ser) c.*57C>T (n.*57C>T) c.466C>T (p.Pro156Ser) c.400C>T (p.Pro134Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699830C>A | CA119808 | GHR | c.446C>A (p.Pro149Gln) c.380C>A (p.Pro127Gln) c.*58C>A (n.*58C>A) c.467C>A (p.Pro156Gln) c.401C>A (p.Pro134Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.42699830C= | CA1542293935 | GHR | c.446C= (p.Pro149=) c.380C= (p.Pro127=) c.*58C= (n.*58C=) c.467C= (p.Pro156=) c.401C= (p.Pro134=) | |
5 | g.42699830C>G | CA359695395 | GHR | c.446C>G (p.Pro149Arg) c.380C>G (p.Pro127Arg) c.*58C>G (n.*58C>G) c.467C>G (p.Pro156Arg) c.401C>G (p.Pro134Arg) | |
5 | g.42699830C>T | CA359695396 | GHR | c.446C>T (p.Pro149Leu) c.380C>T (p.Pro127Leu) c.*58C>T (n.*58C>T) c.467C>T (p.Pro156Leu) c.401C>T (p.Pro134Leu) | |
5 | g.42699831A= | CA1542293965 | GHR | c.447A= (p.Pro149=) c.381A= (p.Pro127=) c.*59A= (n.*59A=) c.468A= (p.Pro156=) c.402A= (p.Pro134=) | |
5 | g.42699831A>C | CA443841700 | GHR | c.447A>C (p.Pro149=) c.381A>C (p.Pro127=) c.*59A>C (n.*59A>C) c.468A>C (p.Pro156=) c.402A>C (p.Pro134=) | |
5 | g.42699831A>G | CA3254413 | GHR | c.447A>G (p.Pro149=) c.381A>G (p.Pro127=) c.*59A>G (n.*59A>G) c.468A>G (p.Pro156=) c.402A>G (p.Pro134=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.42699831A>T | CA443841703 | GHR | c.447A>T (p.Pro149=) c.381A>T (p.Pro127=) c.*59A>T (n.*59A>T) c.468A>T (p.Pro156=) c.402A>T (p.Pro134=) | |
5 | g.42699832G>A | CA359695397 | GHR | c.448G>A (p.Asp150Asn) c.382G>A (p.Asp128Asn) c.*60G>A (n.*60G>A) c.469G>A (p.Asp157Asn) c.403G>A (p.Asp135Asn) | gnomAD v4 |
5 | g.42699832G>C | CA359695398 | GHR | c.448G>C (p.Asp150His) c.382G>C (p.Asp128His) c.*60G>C (n.*60G>C) c.469G>C (p.Asp157His) c.403G>C (p.Asp135His) | |
5 | g.42699832G>T | CA359695399 | GHR | c.448G>T (p.Asp150Tyr) c.382G>T (p.Asp128Tyr) c.*60G>T (n.*60G>T) c.469G>T (p.Asp157Tyr) c.403G>T (p.Asp135Tyr) | |
5 | g.42699833A>C | CA359695400 | GHR | c.449A>C (p.Asp150Ala) c.383A>C (p.Asp128Ala) c.*61A>C (n.*61A>C) c.470A>C (p.Asp157Ala) c.404A>C (p.Asp135Ala) | |
5 | g.42699833A>G | CA359695401 | GHR | c.449A>G (p.Asp150Gly) c.383A>G (p.Asp128Gly) c.*61A>G (n.*61A>G) c.470A>G (p.Asp157Gly) c.404A>G (p.Asp135Gly) | gnomAD v4 |
5 | g.42699833A>T | CA359695402 | GHR | c.449A>T (p.Asp150Val) c.383A>T (p.Asp128Val) c.*61A>T (n.*61A>T) c.470A>T (p.Asp157Val) c.404A>T (p.Asp135Val) | gnomAD v4 |
5 | g.42699834T>A | CA359695403 | GHR | c.450T>A (p.Asp150Glu) c.384T>A (p.Asp128Glu) c.*62T>A (n.*62T>A) c.471T>A (p.Asp157Glu) c.405T>A (p.Asp135Glu) | dbSNP |
5 | g.42699834T>C | CA443841713 | GHR | c.450T>C (p.Asp150=) c.384T>C (p.Asp128=) c.*62T>C (n.*62T>C) c.471T>C (p.Asp157=) c.405T>C (p.Asp135=) | |
5 | g.42699834T>G | CA359695404 | GHR | c.450T>G (p.Asp150Glu) c.384T>G (p.Asp128Glu) c.*62T>G (n.*62T>G) c.471T>G (p.Asp157Glu) c.405T>G (p.Asp135Glu) | |
5 | g.42699834T= | CA1542293970 | GHR | c.450T= (p.Asp150=) c.384T= (p.Asp128=) c.*62T= (n.*62T=) c.471T= (p.Asp157=) c.405T= (p.Asp135=) | |
5 | g.42699835C>A | CA359695405 | GHR | c.451C>A (p.Pro151Thr) c.385C>A (p.Pro129Thr) c.*63C>A (n.*63C>A) c.472C>A (p.Pro158Thr) c.406C>A (p.Pro136Thr) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42699835C= | CA1542293974 | GHR | c.451C= (p.Pro151=) c.385C= (p.Pro129=) c.*63C= (n.*63C=) c.472C= (p.Pro158=) c.406C= (p.Pro136=) | |
5 | g.42699835C>G | CA359695406 | GHR | c.451C>G (p.Pro151Ala) c.385C>G (p.Pro129Ala) c.*63C>G (n.*63C>G) c.472C>G (p.Pro158Ala) c.406C>G (p.Pro136Ala) | |
5 | g.42699835C>T | CA3254414 | GHR | c.451C>T (p.Pro151Ser) c.385C>T (p.Pro129Ser) c.*63C>T (n.*63C>T) c.472C>T (p.Pro158Ser) c.406C>T (p.Pro136Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699836C>A | CA359695407 | GHR | c.452C>A (p.Pro151Gln) c.386C>A (p.Pro129Gln) c.*64C>A (n.*64C>A) c.473C>A (p.Pro158Gln) c.407C>A (p.Pro136Gln) | gnomAD v4 |
5 | g.42699836C>G | CA359695409 | GHR | c.452C>G (p.Pro151Arg) c.386C>G (p.Pro129Arg) c.*64C>G (n.*64C>G) c.473C>G (p.Pro158Arg) c.407C>G (p.Pro136Arg) | |
5 | g.42699836C>T | CA359695408 | GHR | c.452C>T (p.Pro151Leu) c.386C>T (p.Pro129Leu) c.*64C>T (n.*64C>T) c.473C>T (p.Pro158Leu) c.407C>T (p.Pro136Leu) | gnomAD v4 |
5 | g.42699837A>C | CA443841728 | GHR | c.453A>C (p.Pro151=) c.387A>C (p.Pro129=) c.*65A>C (n.*65A>C) c.474A>C (p.Pro158=) c.408A>C (p.Pro136=) | |
5 | g.42699837A>G | CA443841733 | GHR | c.453A>G (p.Pro151=) c.387A>G (p.Pro129=) c.*65A>G (n.*65A>G) c.474A>G (p.Pro158=) c.408A>G (p.Pro136=) | gnomAD v4 |
5 | g.42699837A>T | CA443841730 | GHR | c.453A>T (p.Pro151=) c.387A>T (p.Pro129=) c.*65A>T (n.*65A>T) c.474A>T (p.Pro158=) c.408A>T (p.Pro136=) | |
5 | g.42699838C>A | CA359695410 | GHR | c.454C>A (p.Pro152Thr) c.388C>A (p.Pro130Thr) c.*66C>A (n.*66C>A) c.475C>A (p.Pro159Thr) c.409C>A (p.Pro137Thr) | |
5 | g.42699838C= | CA1542293977 | GHR | c.454C= (p.Pro152=) c.388C= (p.Pro130=) c.*66C= (n.*66C=) c.475C= (p.Pro159=) c.409C= (p.Pro137=) | |
5 | g.42699838C>G | CA359695411 | GHR | c.454C>G (p.Pro152Ala) c.388C>G (p.Pro130Ala) c.*66C>G (n.*66C>G) c.475C>G (p.Pro159Ala) c.409C>G (p.Pro137Ala) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42699838C>T | CA359695412 | GHR | c.454C>T (p.Pro152Ser) c.388C>T (p.Pro130Ser) c.*66C>T (n.*66C>T) c.475C>T (p.Pro159Ser) c.409C>T (p.Pro137Ser) | |
5 | g.42699839C>A | CA359695413 | GHR | c.455C>A (p.Pro152His) c.389C>A (p.Pro130His) c.*67C>A (n.*67C>A) c.476C>A (p.Pro159His) c.410C>A (p.Pro137His) | |
5 | g.42699839C>G | CA359695414 | GHR | c.455C>G (p.Pro152Arg) c.389C>G (p.Pro130Arg) c.*67C>G (n.*67C>G) c.476C>G (p.Pro159Arg) c.410C>G (p.Pro137Arg) | |
5 | g.42699839C>T | CA359695415 | GHR | c.455C>T (p.Pro152Leu) c.389C>T (p.Pro130Leu) c.*67C>T (n.*67C>T) c.476C>T (p.Pro159Leu) c.410C>T (p.Pro137Leu) | |
5 | g.42699840C>A | CA443841743 | GHR | c.456C>A (p.Pro152=) c.390C>A (p.Pro130=) c.*68C>A (n.*68C>A) c.477C>A (p.Pro159=) c.411C>A (p.Pro137=) | gnomAD v4 |
5 | g.42699840C>G | CA443841745 | GHR | c.456C>G (p.Pro152=) c.390C>G (p.Pro130=) c.*68C>G (n.*68C>G) c.477C>G (p.Pro159=) c.411C>G (p.Pro137=) | |
5 | g.42699840C>T | CA443841747 | GHR | c.456C>T (p.Pro152=) c.390C>T (p.Pro130=) c.*68C>T (n.*68C>T) c.477C>T (p.Pro159=) c.411C>T (p.Pro137=) | |
5 | g.42699841A= | CA1542293979 | GHR | c.457A= (p.Ile153=) c.391A= (p.Ile131=) c.*69A= (n.*69A=) c.478A= (p.Ile160=) c.412A= (p.Ile138=) | |
5 | g.42699841A>C | CA359695416 | GHR | c.457A>C (p.Ile153Leu) c.391A>C (p.Ile131Leu) c.*69A>C (n.*69A>C) c.478A>C (p.Ile160Leu) c.412A>C (p.Ile138Leu) | |
5 | g.42699841A>G | CA359695417 | GHR | c.457A>G (p.Ile153Val) c.391A>G (p.Ile131Val) c.*69A>G (n.*69A>G) c.478A>G (p.Ile160Val) c.412A>G (p.Ile138Val) | dbSNP gnomAD v4 |
5 | g.42699841A>T | CA359695418 | GHR | c.457A>T (p.Ile153Phe) c.391A>T (p.Ile131Phe) c.*69A>T (n.*69A>T) c.478A>T (p.Ile160Phe) c.412A>T (p.Ile138Phe) | |
5 | g.42699842T>A | CA359695419 | GHR | c.458T>A (p.Ile153Asn) c.392T>A (p.Ile131Asn) c.*70T>A (n.*70T>A) c.479T>A (p.Ile160Asn) c.413T>A (p.Ile138Asn) | |
5 | g.42699842T>C | CA3254415 | GHR | c.458T>C (p.Ile153Thr) c.392T>C (p.Ile131Thr) c.*70T>C (n.*70T>C) c.479T>C (p.Ile160Thr) c.413T>C (p.Ile138Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699842T>G | CA359695420 | GHR | c.458T>G (p.Ile153Ser) c.392T>G (p.Ile131Ser) c.*70T>G (n.*70T>G) c.479T>G (p.Ile160Ser) c.413T>G (p.Ile138Ser) | |
5 | g.42699842T= | CA1542293984 | GHR | c.458T= (p.Ile153=) c.392T= (p.Ile131=) c.*70T= (n.*70T=) c.479T= (p.Ile160=) c.413T= (p.Ile138=) | |
5 | g.42699843T>A | CA443841753 | GHR | c.459T>A (p.Ile153=) c.393T>A (p.Ile131=) c.*71T>A (n.*71T>A) c.480T>A (p.Ile160=) c.414T>A (p.Ile138=) | |
5 | g.42699843T>C | CA443841754 | GHR | c.459T>C (p.Ile153=) c.393T>C (p.Ile131=) c.*71T>C (n.*71T>C) c.480T>C (p.Ile160=) c.414T>C (p.Ile138=) | |
5 | g.42699843T>G | CA359695421 | GHR | c.459T>G (p.Ile153Met) c.393T>G (p.Ile131Met) c.*71T>G (n.*71T>G) c.480T>G (p.Ile160Met) c.414T>G (p.Ile138Met) | |
5 | g.42699844G>A | CA359695422 | GHR | c.460G>A (p.Ala154Thr) c.394G>A (p.Ala132Thr) c.*72G>A (n.*72G>A) c.481G>A (p.Ala161Thr) c.415G>A (p.Ala139Thr) | gnomAD v4 |
5 | g.42699844G>C | CA359695424 | GHR | c.460G>C (p.Ala154Pro) c.394G>C (p.Ala132Pro) c.*72G>C (n.*72G>C) c.481G>C (p.Ala161Pro) c.415G>C (p.Ala139Pro) | |
5 | g.42699844G= | CA1542293987 | GHR | c.460G= (p.Ala154=) c.394G= (p.Ala132=) c.*72G= (n.*72G=) c.481G= (p.Ala161=) c.415G= (p.Ala139=) | |
5 | g.42699844G>T | CA359695423 | GHR | c.460G>T (p.Ala154Ser) c.394G>T (p.Ala132Ser) c.*72G>T (n.*72G>T) c.481G>T (p.Ala161Ser) c.415G>T (p.Ala139Ser) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42699845C>A | CA359695425 | GHR | c.461C>A (p.Ala154Asp) c.395C>A (p.Ala132Asp) c.*73C>A (n.*73C>A) c.482C>A (p.Ala161Asp) c.416C>A (p.Ala139Asp) | |
5 | g.42699845C>G | CA359695426 | GHR | c.461C>G (p.Ala154Gly) c.395C>G (p.Ala132Gly) c.*73C>G (n.*73C>G) c.482C>G (p.Ala161Gly) c.416C>G (p.Ala139Gly) | gnomAD v4 |
5 | g.42699845C>T | CA359695427 | GHR | c.461C>T (p.Ala154Val) c.395C>T (p.Ala132Val) c.*73C>T (n.*73C>T) c.482C>T (p.Ala161Val) c.416C>T (p.Ala139Val) | |
5 | g.42699846C>A | CA443841765 | GHR | c.462C>A (p.Ala154=) c.396C>A (p.Ala132=) c.*74C>A (n.*74C>A) c.483C>A (p.Ala161=) c.417C>A (p.Ala139=) | gnomAD v4 |
5 | g.42699846C>G | CA443841767 | GHR | c.462C>G (p.Ala154=) c.396C>G (p.Ala132=) c.*74C>G (n.*74C>G) c.483C>G (p.Ala161=) c.417C>G (p.Ala139=) | |
5 | g.42699846C>T | CA443841770 | GHR | c.462C>T (p.Ala154=) c.396C>T (p.Ala132=) c.*74C>T (n.*74C>T) c.483C>T (p.Ala161=) c.417C>T (p.Ala139=) | |
5 | g.42699847C>A | CA359695428 | GHR | c.463C>A (p.Leu155Ile) c.397C>A (p.Leu133Ile) c.*75C>A (n.*75C>A) c.484C>A (p.Leu162Ile) c.418C>A (p.Leu140Ile) | |
5 | g.42699847C>G | CA359695429 | GHR | c.463C>G (p.Leu155Val) c.397C>G (p.Leu133Val) c.*75C>G (n.*75C>G) c.484C>G (p.Leu162Val) c.418C>G (p.Leu140Val) | |
5 | g.42699847C>T | CA359695430 | GHR | c.463C>T (p.Leu155Phe) c.397C>T (p.Leu133Phe) c.*75C>T (n.*75C>T) c.484C>T (p.Leu162Phe) c.418C>T (p.Leu140Phe) | |
5 | g.42699848T>A | CA359695431 | GHR | c.464T>A (p.Leu155His) c.398T>A (p.Leu133His) c.*76T>A (n.*76T>A) c.485T>A (p.Leu162His) c.419T>A (p.Leu140His) | gnomAD v4 |
5 | g.42699848T>C | CA359695432 | GHR | c.464T>C (p.Leu155Pro) c.398T>C (p.Leu133Pro) c.*76T>C (n.*76T>C) c.485T>C (p.Leu162Pro) c.419T>C (p.Leu140Pro) | |
5 | g.42699848T>G | CA359695433 | GHR | c.464T>G (p.Leu155Arg) c.398T>G (p.Leu133Arg) c.*76T>G (n.*76T>G) c.485T>G (p.Leu162Arg) c.419T>G (p.Leu140Arg) | |
5 | g.42699849C>A | CA443841782 | GHR | c.465C>A (p.Leu155=) c.399C>A (p.Leu133=) c.*77C>A (n.*77C>A) c.486C>A (p.Leu162=) c.420C>A (p.Leu140=) | |
5 | g.42699849C>G | CA443841784 | GHR | c.465C>G (p.Leu155=) c.399C>G (p.Leu133=) c.*77C>G (n.*77C>G) c.486C>G (p.Leu162=) c.420C>G (p.Leu140=) | |
5 | g.42699849C>T | CA443841786 | GHR | c.465C>T (p.Leu155=) c.399C>T (p.Leu133=) c.*77C>T (n.*77C>T) c.486C>T (p.Leu162=) c.420C>T (p.Leu140=) | |
5 | g.42699850A>C | CA359695436 | GHR | c.466A>C (p.Asn156His) c.400A>C (p.Asn134His) c.*78A>C (n.*78A>C) c.487A>C (p.Asn163His) c.421A>C (p.Asn141His) | |
5 | g.42699850A>G | CA359695435 | GHR | c.466A>G (p.Asn156Asp) c.400A>G (p.Asn134Asp) c.*78A>G (n.*78A>G) c.487A>G (p.Asn163Asp) c.421A>G (p.Asn141Asp) | |
5 | g.42699850A>T | CA359695434 | GHR | c.466A>T (p.Asn156Tyr) c.400A>T (p.Asn134Tyr) c.*78A>T (n.*78A>T) c.487A>T (p.Asn163Tyr) c.421A>T (p.Asn141Tyr) | |
5 | g.42699851A= | CA1542293991 | GHR | c.467A= (p.Asn156=) c.401A= (p.Asn134=) c.*79A= (n.*79A=) c.488A= (p.Asn163=) c.422A= (p.Asn141=) | |
5 | g.42699851A>C | CA359695437 | GHR | c.467A>C (p.Asn156Thr) c.401A>C (p.Asn134Thr) c.*79A>C (n.*79A>C) c.488A>C (p.Asn163Thr) c.422A>C (p.Asn141Thr) | |
5 | g.42699851A>G | CA118048238 | GHR | c.467A>G (p.Asn156Ser) c.401A>G (p.Asn134Ser) c.*79A>G (n.*79A>G) c.488A>G (p.Asn163Ser) c.422A>G (p.Asn141Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42699851A>T | CA359695438 | GHR | c.467A>T (p.Asn156Ile) c.401A>T (p.Asn134Ile) c.*79A>T (n.*79A>T) c.488A>T (p.Asn163Ile) c.422A>T (p.Asn141Ile) | |
5 | g.42699852C>A | CA359695439 | GHR | c.468C>A (p.Asn156Lys) c.402C>A (p.Asn134Lys) c.*80C>A (n.*80C>A) c.489C>A (p.Asn163Lys) c.423C>A (p.Asn141Lys) | |
5 | g.42699852C>G | CA359695440 | GHR | c.468C>G (p.Asn156Lys) c.402C>G (p.Asn134Lys) c.*80C>G (n.*80C>G) c.489C>G (p.Asn163Lys) c.423C>G (p.Asn141Lys) | |
5 | g.42699852C>T | CA443841799 | GHR | c.468C>T (p.Asn156=) c.402C>T (p.Asn134=) c.*80C>T (n.*80C>T) c.489C>T (p.Asn163=) c.423C>T (p.Asn141=) | |
5 | g.42699853T>A | CA359695441 | GHR | c.469T>A (p.Trp157Arg) c.403T>A (p.Trp135Arg) c.*81T>A (n.*81T>A) c.490T>A (p.Trp164Arg) c.424T>A (p.Trp142Arg) | |
5 | g.42699853T>C | CA359695442 | GHR | c.469T>C (p.Trp157Arg) c.403T>C (p.Trp135Arg) c.*81T>C (n.*81T>C) c.490T>C (p.Trp164Arg) c.424T>C (p.Trp142Arg) | |
5 | g.42699853T>G | CA359695443 | GHR | c.469T>G (p.Trp157Gly) c.403T>G (p.Trp135Gly) c.*81T>G (n.*81T>G) c.490T>G (p.Trp164Gly) c.424T>G (p.Trp142Gly) | |
5 | g.42699854G>A | CA359695444 | GHR | c.470G>A (p.Trp157Ter) c.404G>A (p.Trp135Ter) c.*82G>A (n.*82G>A) c.491G>A (p.Trp164Ter) c.425G>A (p.Trp142Ter) | |
5 | g.42699854G>C | CA359695445 | GHR | c.470G>C (p.Trp157Ser) c.404G>C (p.Trp135Ser) c.*82G>C (n.*82G>C) c.491G>C (p.Trp164Ser) c.425G>C (p.Trp142Ser) | |
5 | g.42699854G>T | CA359695446 | GHR | c.470G>T (p.Trp157Leu) c.404G>T (p.Trp135Leu) c.*82G>T (n.*82G>T) c.491G>T (p.Trp164Leu) c.425G>T (p.Trp142Leu) | |
5 | g.42699855G>A | CA359695449 | GHR | c.471G>A (p.Trp157Ter) c.405G>A (p.Trp135Ter) c.*83G>A (n.*83G>A) c.492G>A (p.Trp164Ter) c.426G>A (p.Trp142Ter) | dbSNP COSMIC |
5 | g.42699855G>C | CA359695448 | GHR | c.471G>C (p.Trp157Cys) c.405G>C (p.Trp135Cys) c.*83G>C (n.*83G>C) c.492G>C (p.Trp164Cys) c.426G>C (p.Trp142Cys) | |
5 | g.42699855G= | CA1542293995 | GHR | c.471G= (p.Trp157=) c.405G= (p.Trp135=) c.*83G= (n.*83G=) c.492G= (p.Trp164=) c.426G= (p.Trp142=) | |
5 | g.42699855G>T | CA359695447 | GHR | c.471G>T (p.Trp157Cys) c.405G>T (p.Trp135Cys) c.*83G>T (n.*83G>T) c.492G>T (p.Trp164Cys) c.426G>T (p.Trp142Cys) | gnomAD v4 |
5 | g.42699856A= | CA1542294001 | GHR | c.472A= (p.Thr158=) c.406A= (p.Thr136=) c.*84A= (n.*84A=) c.493A= (p.Thr165=) c.427A= (p.Thr143=) | |
5 | g.42699856A>C | CA359695450 | GHR | c.472A>C (p.Thr158Pro) c.406A>C (p.Thr136Pro) c.*84A>C (n.*84A>C) c.493A>C (p.Thr165Pro) c.427A>C (p.Thr143Pro) | |
5 | g.42699856A>G | CA359695451 | GHR | c.472A>G (p.Thr158Ala) c.406A>G (p.Thr136Ala) c.*84A>G (n.*84A>G) c.493A>G (p.Thr165Ala) c.427A>G (p.Thr143Ala) | |
5 | g.42699856A>T | CA359695452 | GHR | c.472A>T (p.Thr158Ser) c.406A>T (p.Thr136Ser) c.*84A>T (n.*84A>T) c.493A>T (p.Thr165Ser) c.427A>T (p.Thr143Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42699857C>A | CA359695453 | GHR | c.473C>A (p.Thr158Asn) c.407C>A (p.Thr136Asn) c.*85C>A (n.*85C>A) c.494C>A (p.Thr165Asn) c.428C>A (p.Thr143Asn) | COSMIC |
5 | g.42699857C>G | CA359695454 | GHR | c.473C>G (p.Thr158Ser) c.407C>G (p.Thr136Ser) c.*85C>G (n.*85C>G) c.494C>G (p.Thr165Ser) c.428C>G (p.Thr143Ser) | |
5 | g.42699857C>T | CA359695455 | GHR | c.473C>T (p.Thr158Ile) c.407C>T (p.Thr136Ile) c.*85C>T (n.*85C>T) c.494C>T (p.Thr165Ile) c.428C>T (p.Thr143Ile) | |
5 | g.42699858T>A | CA443841829 | GHR | c.474T>A (p.Thr158=) c.408T>A (p.Thr136=) c.*86T>A (n.*86T>A) c.495T>A (p.Thr165=) c.429T>A (p.Thr143=) | |
5 | g.42699858T>C | CA443841832 | GHR | c.474T>C (p.Thr158=) c.408T>C (p.Thr136=) c.*86T>C (n.*86T>C) c.495T>C (p.Thr165=) c.429T>C (p.Thr143=) | |
5 | g.42699858T>G | CA443841827 | GHR | c.474T>G (p.Thr158=) c.408T>G (p.Thr136=) c.*86T>G (n.*86T>G) c.495T>G (p.Thr165=) c.429T>G (p.Thr143=) | gnomAD v4 |
5 | g.42699859T>A | CA359695456 | GHR | c.475T>A (p.Leu159Ile) c.409T>A (p.Leu137Ile) c.*87T>A (n.*87T>A) c.496T>A (p.Leu166Ile) c.430T>A (p.Leu144Ile) | |
5 | g.42699859T>C | CA443841836 | GHR | c.475T>C (p.Leu159=) c.409T>C (p.Leu137=) c.*87T>C (n.*87T>C) c.496T>C (p.Leu166=) c.430T>C (p.Leu144=) | gnomAD v4 |
5 | g.42699859T>G | CA359695457 | GHR | c.475T>G (p.Leu159Val) c.409T>G (p.Leu137Val) c.*87T>G (n.*87T>G) c.496T>G (p.Leu166Val) c.430T>G (p.Leu144Val) | |
5 | g.42699860T>A | CA118048239 | GHR | c.476T>A (p.Leu159Ter) c.410T>A (p.Leu137Ter) c.*88T>A (n.*88T>A) c.497T>A (p.Leu166Ter) c.431T>A (p.Leu144Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.42699860T>C | CA359695458 | GHR | c.476T>C (p.Leu159Ser) c.410T>C (p.Leu137Ser) c.*88T>C (n.*88T>C) c.497T>C (p.Leu166Ser) c.431T>C (p.Leu144Ser) | |
5 | g.42699860T>G | CA359695459 | GHR | c.476T>G (p.Leu159Ter) c.410T>G (p.Leu137Ter) c.*88T>G (n.*88T>G) c.497T>G (p.Leu166Ter) c.431T>G (p.Leu144Ter) | |
5 | g.42699860T= | CA1542294007 | GHR | c.476T= (p.Leu159=) c.410T= (p.Leu137=) c.*88T= (n.*88T=) c.497T= (p.Leu166=) c.431T= (p.Leu144=) | |
5 | g.42699861A>C | CA359695460 | GHR | c.477A>C (p.Leu159Phe) c.411A>C (p.Leu137Phe) c.*89A>C (n.*89A>C) c.498A>C (p.Leu166Phe) c.432A>C (p.Leu144Phe) | |
5 | g.42699861A>G | CA443841845 | GHR | c.477A>G (p.Leu159=) c.411A>G (p.Leu137=) c.*89A>G (n.*89A>G) c.498A>G (p.Leu166=) c.432A>G (p.Leu144=) | |
5 | g.42699861A>T | CA359695461 | GHR | c.477A>T (p.Leu159Phe) c.411A>T (p.Leu137Phe) c.*89A>T (n.*89A>T) c.498A>T (p.Leu166Phe) c.432A>T (p.Leu144Phe) | |
5 | g.42699862C>A | CA359695462 | GHR | c.478C>A (p.Leu160Met) c.412C>A (p.Leu138Met) c.*90C>A (n.*90C>A) c.499C>A (p.Leu167Met) c.433C>A (p.Leu145Met) | |
5 | g.42699862C>G | CA359695463 | GHR | c.478C>G (p.Leu160Val) c.412C>G (p.Leu138Val) c.*90C>G (n.*90C>G) c.499C>G (p.Leu167Val) c.433C>G (p.Leu145Val) | gnomAD v4 |
5 | g.42699862C>T | CA443841855 | GHR | c.478C>T (p.Leu160=) c.412C>T (p.Leu138=) c.*90C>T (n.*90C>T) c.499C>T (p.Leu167=) c.433C>T (p.Leu145=) | |
5 | g.42699863T>A | CA359695464 | GHR | c.479T>A (p.Leu160Gln) c.413T>A (p.Leu138Gln) c.*91T>A (n.*91T>A) c.500T>A (p.Leu167Gln) c.434T>A (p.Leu145Gln) | |
5 | g.42699863T>C | CA359695465 | GHR | c.479T>C (p.Leu160Pro) c.413T>C (p.Leu138Pro) c.*91T>C (n.*91T>C) c.500T>C (p.Leu167Pro) c.434T>C (p.Leu145Pro) | |
5 | g.42699863T>G | CA3254416 | GHR | c.479T>G (p.Leu160Arg) c.413T>G (p.Leu138Arg) c.*91T>G (n.*91T>G) c.500T>G (p.Leu167Arg) c.434T>G (p.Leu145Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42699863T= | CA1542294014 | GHR | c.479T= (p.Leu160=) c.413T= (p.Leu138=) c.*91T= (n.*91T=) c.500T= (p.Leu167=) c.434T= (p.Leu145=) | |
5 | g.42699864G>A | CA443841865 | GHR | c.480G>A (p.Leu160=) c.414G>A (p.Leu138=) c.*92G>A (n.*92G>A) c.501G>A (p.Leu167=) c.435G>A (p.Leu145=) | dbSNP |
5 | g.42699864G>C | CA443841869 | GHR | c.480G>C (p.Leu160=) c.414G>C (p.Leu138=) c.*92G>C (n.*92G>C) c.501G>C (p.Leu167=) c.435G>C (p.Leu145=) | |
5 | g.42699864G= | CA1542294017 | GHR | c.480G= (p.Leu160=) c.414G= (p.Leu138=) c.*92G= (n.*92G=) c.501G= (p.Leu167=) c.435G= (p.Leu145=) | |
5 | g.42699864G>T | CA443841867 | GHR | c.480G>T (p.Leu160=) c.414G>T (p.Leu138=) c.*92G>T (n.*92G>T) c.501G>T (p.Leu167=) c.435G>T (p.Leu145=) | |
5 | g.42699865A>C | CA359695466 | GHR | c.481A>C (p.Asn161His) c.415A>C (p.Asn139His) c.*93A>C (n.*93A>C) c.502A>C (p.Asn168His) c.436A>C (p.Asn146His) | |
5 | g.42699865A>G | CA359695467 | GHR | c.481A>G (p.Asn161Asp) c.415A>G (p.Asn139Asp) c.*93A>G (n.*93A>G) c.502A>G (p.Asn168Asp) c.436A>G (p.Asn146Asp) | |
5 | g.42699865A>T | CA359695468 | GHR | c.481A>T (p.Asn161Tyr) c.415A>T (p.Asn139Tyr) c.*93A>T (n.*93A>T) c.502A>T (p.Asn168Tyr) c.436A>T (p.Asn146Tyr) | |
5 | g.42699866A>C | CA359695469 | GHR | c.482A>C (p.Asn161Thr) c.416A>C (p.Asn139Thr) c.*94A>C (n.*94A>C) c.503A>C (p.Asn168Thr) c.437A>C (p.Asn146Thr) | |
5 | g.42699866A>G | CA359695470 | GHR | c.482A>G (p.Asn161Ser) c.416A>G (p.Asn139Ser) c.*94A>G (n.*94A>G) c.503A>G (p.Asn168Ser) c.437A>G (p.Asn146Ser) | |
5 | g.42699866A>T | CA359695471 | GHR | c.482A>T (p.Asn161Ile) c.416A>T (p.Asn139Ile) c.*94A>T (n.*94A>T) c.503A>T (p.Asn168Ile) c.437A>T (p.Asn146Ile) | |
5 | g.42699867C>A | CA359695472 | GHR | c.483C>A (p.Asn161Lys) c.417C>A (p.Asn139Lys) c.*95C>A (n.*95C>A) c.504C>A (p.Asn168Lys) c.438C>A (p.Asn146Lys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42699867C= | CA1542294021 | GHR | c.483C= (p.Asn161=) c.417C= (p.Asn139=) c.*95C= (n.*95C=) c.504C= (p.Asn168=) c.438C= (p.Asn146=) | |
5 | g.42699867C>G | CA359695473 | GHR | c.483C>G (p.Asn161Lys) c.417C>G (p.Asn139Lys) c.*95C>G (n.*95C>G) c.504C>G (p.Asn168Lys) c.438C>G (p.Asn146Lys) | |
5 | g.42699867C>T | CA3254417 | GHR | c.483C>T (p.Asn161=) c.417C>T (p.Asn139=) c.*95C>T (n.*95C>T) c.504C>T (p.Asn168=) c.438C>T (p.Asn146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699868G>A | CA119809 | GHR | c.484G>A (p.Val162Ile) c.418G>A (p.Val140Ile) c.*96G>A (n.*96G>A) c.505G>A (p.Val169Ile) c.439G>A (p.Val147Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699868G>C | CA359695474 | GHR | c.484G>C (p.Val162Leu) c.418G>C (p.Val140Leu) c.*96G>C (n.*96G>C) c.505G>C (p.Val169Leu) c.439G>C (p.Val147Leu) | |
5 | g.42699868G= | CA1542294024 | GHR | c.484G= (p.Val162=) c.418G= (p.Val140=) c.*96G= (n.*96G=) c.505G= (p.Val169=) c.439G= (p.Val147=) | |
5 | g.42699868G>T | CA3254418 | GHR | c.484G>T (p.Val162Phe) c.418G>T (p.Val140Phe) c.*96G>T (n.*96G>T) c.505G>T (p.Val169Phe) c.439G>T (p.Val147Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699869T>A | CA359695477 | GHR | c.485T>A (p.Val162Asp) c.419T>A (p.Val140Asp) c.*97T>A (n.*97T>A) c.506T>A (p.Val169Asp) c.440T>A (p.Val147Asp) | |
5 | g.42699869T>C | CA359695475 | GHR | c.485T>C (p.Val162Ala) c.419T>C (p.Val140Ala) c.*97T>C (n.*97T>C) c.506T>C (p.Val169Ala) c.440T>C (p.Val147Ala) | |
5 | g.42699869T>G | CA359695476 | GHR | c.485T>G (p.Val162Gly) c.419T>G (p.Val140Gly) c.*97T>G (n.*97T>G) c.506T>G (p.Val169Gly) c.440T>G (p.Val147Gly) | |
5 | g.42699870C>A | CA443841900 | GHR | c.486C>A (p.Val162=) c.420C>A (p.Val140=) c.*98C>A (n.*98C>A) c.507C>A (p.Val169=) c.441C>A (p.Val147=) | |
5 | g.42699870C= | CA1542294033 | GHR | c.486C= (p.Val162=) c.420C= (p.Val140=) c.*98C= (n.*98C=) c.507C= (p.Val169=) c.441C= (p.Val147=) | |
5 | g.42699870C>G | CA443841902 | GHR | c.486C>G (p.Val162=) c.420C>G (p.Val140=) c.*98C>G (n.*98C>G) c.507C>G (p.Val169=) c.441C>G (p.Val147=) | |
5 | g.42699870C>T | CA3254419 | GHR | c.486C>T (p.Val162=) c.420C>T (p.Val140=) c.*98C>T (n.*98C>T) c.507C>T (p.Val169=) c.441C>T (p.Val147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42699871A>C | CA359695478 | GHR | c.487A>C (p.Ser163Arg) c.421A>C (p.Ser141Arg) c.*99A>C (n.*99A>C) c.508A>C (p.Ser170Arg) c.442A>C (p.Ser148Arg) | |
5 | g.42699871A>G | CA359695479 | GHR | c.487A>G (p.Ser163Gly) c.421A>G (p.Ser141Gly) c.*99A>G (n.*99A>G) c.508A>G (p.Ser170Gly) c.442A>G (p.Ser148Gly) | gnomAD v4 |
5 | g.42699871A>T | CA359695480 | GHR | c.487A>T (p.Ser163Cys) c.421A>T (p.Ser141Cys) c.*99A>T (n.*99A>T) c.508A>T (p.Ser170Cys) c.442A>T (p.Ser148Cys) | |
5 | g.42699872G>A | CA359695481 | GHR | c.488G>A (p.Ser163Asn) c.422G>A (p.Ser141Asn) c.*100G>A (n.*100G>A) c.509G>A (p.Ser170Asn) c.443G>A (p.Ser148Asn) | |
5 | g.42699872G>C | CA359695482 | GHR | c.488G>C (p.Ser163Thr) c.422G>C (p.Ser141Thr) c.*100G>C (n.*100G>C) c.509G>C (p.Ser170Thr) c.443G>C (p.Ser148Thr) | |
5 | g.42699872G>T | CA359695483 | GHR | c.488G>T (p.Ser163Ile) c.422G>T (p.Ser141Ile) c.*100G>T (n.*100G>T) c.509G>T (p.Ser170Ile) c.443G>T (p.Ser148Ile) | |
5 | g.42699873T>A | CA359695484 | GHR | c.489T>A (p.Ser163Arg) c.423T>A (p.Ser141Arg) c.*101T>A (n.*101T>A) c.510T>A (p.Ser170Arg) c.444T>A (p.Ser148Arg) | gnomAD v4 |
5 | g.42699873T>C | CA443841922 | GHR | c.489T>C (p.Ser163=) c.423T>C (p.Ser141=) c.*101T>C (n.*101T>C) c.510T>C (p.Ser170=) c.444T>C (p.Ser148=) | COSMIC |
5 | g.42699873T>G | CA359695485 | GHR | c.489T>G (p.Ser163Arg) c.423T>G (p.Ser141Arg) c.*101T>G (n.*101T>G) c.510T>G (p.Ser170Arg) c.444T>G (p.Ser148Arg) | |
5 | g.42699874T>A | CA359695486 | GHR | c.490T>A (p.Leu164Ile) c.424T>A (p.Leu142Ile) c.*102T>A (n.*102T>A) c.511T>A (p.Leu171Ile) c.445T>A (p.Leu149Ile) | |
5 | g.42699874T>C | CA443841930 | GHR | c.490T>C (p.Leu164=) c.424T>C (p.Leu142=) c.*102T>C (n.*102T>C) c.511T>C (p.Leu171=) c.445T>C (p.Leu149=) | |
5 | g.42699874T>G | CA359695487 | GHR | c.490T>G (p.Leu164Val) c.424T>G (p.Leu142Val) c.*102T>G (n.*102T>G) c.511T>G (p.Leu171Val) c.445T>G (p.Leu149Val) | |
5 | g.42699875T>A | CA359695490 | GHR | c.491T>A (p.Leu164Ter) c.425T>A (p.Leu142Ter) c.*103T>A (n.*103T>A) c.512T>A (p.Leu171Ter) c.446T>A (p.Leu149Ter) | |
5 | g.42699875T>C | CA359695489 | GHR | c.491T>C (p.Leu164Ser) c.425T>C (p.Leu142Ser) c.*103T>C (n.*103T>C) c.512T>C (p.Leu171Ser) c.446T>C (p.Leu149Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.42699875T>G | CA359695488 | GHR | c.491T>G (p.Leu164Ter) c.425T>G (p.Leu142Ter) c.*103T>G (n.*103T>G) c.512T>G (p.Leu171Ter) c.446T>G (p.Leu149Ter) | |
5 | g.42699875T= | CA1542294038 | GHR | c.491T= (p.Leu164=) c.425T= (p.Leu142=) c.*103T= (n.*103T=) c.512T= (p.Leu171=) c.446T= (p.Leu149=) | |
5 | g.42699876A>C | CA359695491 | GHR | c.492A>C (p.Leu164Phe) c.426A>C (p.Leu142Phe) c.*104A>C (n.*104A>C) c.513A>C (p.Leu171Phe) c.447A>C (p.Leu149Phe) | |
5 | g.42699876A>G | CA443841941 | GHR | c.492A>G (p.Leu164=) c.426A>G (p.Leu142=) c.*104A>G (n.*104A>G) c.513A>G (p.Leu171=) c.447A>G (p.Leu149=) | |
5 | g.42699876A>T | CA359695492 | GHR | c.492A>T (p.Leu164Phe) c.426A>T (p.Leu142Phe) c.*104A>T (n.*104A>T) c.513A>T (p.Leu171Phe) c.447A>T (p.Leu149Phe) | |
5 | g.42699877del | CA2766052431 | GHR | c.493del (p.Thr165LeufsTer9) c.427del (p.Thr143LeufsTer9) c.*105del (n.*105del) c.514del (p.Thr172LeufsTer9) c.448del (p.Thr150LeufsTer9) | |
5 | g.42699877A= | CA1542294043 | GHR | c.493A= (p.Thr165=) c.427A= (p.Thr143=) c.*105A= (n.*105A=) c.514A= (p.Thr172=) c.448A= (p.Thr150=) | |
5 | g.42699877A>C | CA359695493 | GHR | c.493A>C (p.Thr165Pro) c.427A>C (p.Thr143Pro) c.*105A>C (n.*105A>C) c.514A>C (p.Thr172Pro) c.448A>C (p.Thr150Pro) | |
5 | g.42699877A>G | CA118048240 | GHR | c.493A>G (p.Thr165Ala) c.427A>G (p.Thr143Ala) c.*105A>G (n.*105A>G) c.514A>G (p.Thr172Ala) c.448A>G (p.Thr150Ala) | dbSNP gnomAD v4 |
5 | g.42699877A>T | CA359695494 | GHR | c.493A>T (p.Thr165Ser) c.427A>T (p.Thr143Ser) c.*105A>T (n.*105A>T) c.514A>T (p.Thr172Ser) c.448A>T (p.Thr150Ser) | dbSNP |
5 | g.42699878C>A | CA359695495 | GHR | c.494C>A (p.Thr165Asn) c.428C>A (p.Thr143Asn) c.*106C>A (n.*106C>A) c.515C>A (p.Thr172Asn) c.449C>A (p.Thr150Asn) | |
5 | g.42699878C= | CA1542294048 | GHR | c.494C= (p.Thr165=) c.428C= (p.Thr143=) c.*106C= (n.*106C=) c.515C= (p.Thr172=) c.449C= (p.Thr150=) | |
5 | g.42699878C>G | CA359695496 | GHR | c.494C>G (p.Thr165Ser) c.428C>G (p.Thr143Ser) c.*106C>G (n.*106C>G) c.515C>G (p.Thr172Ser) c.449C>G (p.Thr150Ser) | gnomAD v4 |
5 | g.42699878C>T | CA359695497 | GHR | c.494C>T (p.Thr165Ile) c.428C>T (p.Thr143Ile) c.*106C>T (n.*106C>T) c.515C>T (p.Thr172Ile) c.449C>T (p.Thr150Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699879T>A | CA443841954 | GHR | c.495T>A (p.Thr165=) c.429T>A (p.Thr143=) c.*107T>A (n.*107T>A) c.516T>A (p.Thr172=) c.450T>A (p.Thr150=) | |
5 | g.42699879T>C | CA443841956 | GHR | c.495T>C (p.Thr165=) c.429T>C (p.Thr143=) c.*107T>C (n.*107T>C) c.516T>C (p.Thr172=) c.450T>C (p.Thr150=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.42699879T>G | CA443841955 | GHR | c.495T>G (p.Thr165=) c.429T>G (p.Thr143=) c.*107T>G (n.*107T>G) c.516T>G (p.Thr172=) c.450T>G (p.Thr150=) | |
5 | g.42699879T= | CA1542294057 | GHR | c.495T= (p.Thr165=) c.429T= (p.Thr143=) c.*107T= (n.*107T=) c.516T= (p.Thr172=) c.450T= (p.Thr150=) | |
5 | g.42699881_42699889del | CA2578302112 | GHR | c.497_505del (p.Gly166_His168del) c.431_439del (p.Gly144_His146del) c.*109_*117del (n.*109_*117del) c.518_526del (p.Gly173_His175del) c.452_460del (p.Gly151_His153del) | |
5 | g.42699880G>A | CA359695498 | GHR | c.496G>A (p.Gly166Arg) c.430G>A (p.Gly144Arg) c.*108G>A (n.*108G>A) c.517G>A (p.Gly173Arg) c.451G>A (p.Gly151Arg) | |
5 | g.42699880G>C | CA359695499 | GHR | c.496G>C (p.Gly166Arg) c.430G>C (p.Gly144Arg) c.*108G>C (n.*108G>C) c.517G>C (p.Gly173Arg) c.451G>C (p.Gly151Arg) | |
5 | g.42699880G>T | CA359695500 | GHR | c.496G>T (p.Gly166Trp) c.430G>T (p.Gly144Trp) c.*108G>T (n.*108G>T) c.517G>T (p.Gly173Trp) c.451G>T (p.Gly151Trp) | |
5 | g.42699881G>A | CA3254420 | GHR | c.497G>A (p.Gly166Glu) c.431G>A (p.Gly144Glu) c.*109G>A (n.*109G>A) c.518G>A (p.Gly173Glu) c.452G>A (p.Gly151Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699881G>C | CA359695501 | GHR | c.497G>C (p.Gly166Ala) c.431G>C (p.Gly144Ala) c.*109G>C (n.*109G>C) c.518G>C (p.Gly173Ala) c.452G>C (p.Gly151Ala) | gnomAD v4 |
5 | g.42699881G= | CA1542294067 | GHR | c.497G= (p.Gly166=) c.431G= (p.Gly144=) c.*109G= (n.*109G=) c.518G= (p.Gly173=) c.452G= (p.Gly151=) | |
5 | g.42699881G>T | CA359695502 | GHR | c.497G>T (p.Gly166Val) c.431G>T (p.Gly144Val) c.*109G>T (n.*109G>T) c.518G>T (p.Gly173Val) c.452G>T (p.Gly151Val) | |
5 | g.42699882G>A | CA118048241 | GHR | c.498G>A (p.Gly166=) c.432G>A (p.Gly144=) c.*110G>A (n.*110G>A) c.519G>A (p.Gly173=) c.453G>A (p.Gly151=) | dbSNP |
5 | g.42699882G>C | CA443841967 | GHR | c.498G>C (p.Gly166=) c.432G>C (p.Gly144=) c.*110G>C (n.*110G>C) c.519G>C (p.Gly173=) c.453G>C (p.Gly151=) | |
5 | g.42699882G= | CA1542294071 | GHR | c.498G= (p.Gly166=) c.432G= (p.Gly144=) c.*110G= (n.*110G=) c.519G= (p.Gly173=) c.453G= (p.Gly151=) | |
5 | g.42699882G>T | CA443841970 | GHR | c.498G>T (p.Gly166=) c.432G>T (p.Gly144=) c.*110G>T (n.*110G>T) c.519G>T (p.Gly173=) c.453G>T (p.Gly151=) | |
5 | g.42699883A= | CA1542294074 | GHR | c.499A= (p.Ile167=) c.433A= (p.Ile145=) c.*111A= (n.*111A=) c.520A= (p.Ile174=) c.454A= (p.Ile152=) | |
5 | g.42699883A>C | CA359695503 | GHR | c.499A>C (p.Ile167Leu) c.433A>C (p.Ile145Leu) c.*111A>C (n.*111A>C) c.520A>C (p.Ile174Leu) c.454A>C (p.Ile152Leu) | |
5 | g.42699883A>G | CA3254421 | GHR | c.499A>G (p.Ile167Val) c.433A>G (p.Ile145Val) c.*111A>G (n.*111A>G) c.520A>G (p.Ile174Val) c.454A>G (p.Ile152Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699883A>T | CA359695504 | GHR | c.499A>T (p.Ile167Phe) c.433A>T (p.Ile145Phe) c.*111A>T (n.*111A>T) c.520A>T (p.Ile174Phe) c.454A>T (p.Ile152Phe) | |
5 | g.42699884T>A | CA359695505 | GHR | c.500T>A (p.Ile167Asn) c.434T>A (p.Ile145Asn) c.*112T>A (n.*112T>A) c.521T>A (p.Ile174Asn) c.455T>A (p.Ile152Asn) | |
5 | g.42699884T>C | CA359695506 | GHR | c.500T>C (p.Ile167Thr) c.434T>C (p.Ile145Thr) c.*112T>C (n.*112T>C) c.521T>C (p.Ile174Thr) c.455T>C (p.Ile152Thr) | |
5 | g.42699884T>G | CA359695507 | GHR | c.500T>G (p.Ile167Ser) c.434T>G (p.Ile145Ser) c.*112T>G (n.*112T>G) c.521T>G (p.Ile174Ser) c.455T>G (p.Ile152Ser) | gnomAD v4 |
5 | g.42699885T>A | CA443842001 | GHR | c.501T>A (p.Ile167=) c.435T>A (p.Ile145=) c.*113T>A (n.*113T>A) c.522T>A (p.Ile174=) c.456T>A (p.Ile152=) | |
5 | g.42699885T>C | CA443842004 | GHR | c.501T>C (p.Ile167=) c.435T>C (p.Ile145=) c.*113T>C (n.*113T>C) c.522T>C (p.Ile174=) c.456T>C (p.Ile152=) | |
5 | g.42699885T>G | CA359695508 | GHR | c.501T>G (p.Ile167Met) c.435T>G (p.Ile145Met) c.*113T>G (n.*113T>G) c.522T>G (p.Ile174Met) c.456T>G (p.Ile152Met) | |
5 | g.42699886C>A | CA359695509 | GHR | c.502C>A (p.His168Asn) c.436C>A (p.His146Asn) c.*114C>A (n.*114C>A) c.523C>A (p.His175Asn) c.457C>A (p.His153Asn) | gnomAD v4 |
5 | g.42699886C= | CA1542294079 | GHR | c.502C= (p.His168=) c.436C= (p.His146=) c.*114C= (n.*114C=) c.523C= (p.His175=) c.457C= (p.His153=) | |
5 | g.42699886C>G | CA359695510 | GHR | c.502C>G (p.His168Asp) c.436C>G (p.His146Asp) c.*114C>G (n.*114C>G) c.523C>G (p.His175Asp) c.457C>G (p.His153Asp) | |
5 | g.42699886C>T | CA118048242 | GHR | c.502C>T (p.His168Tyr) c.436C>T (p.His146Tyr) c.*114C>T (n.*114C>T) c.523C>T (p.His175Tyr) c.457C>T (p.His153Tyr) | dbSNP gnomAD v4 |
5 | g.42699887A= | CA1542294087 | GHR | c.503A= (p.His168=) c.437A= (p.His146=) c.*115A= (n.*115A=) c.524A= (p.His175=) c.458A= (p.His153=) | |
5 | g.42699887A>C | CA3254422 | GHR | c.503A>C (p.His168Pro) c.437A>C (p.His146Pro) c.*115A>C (n.*115A>C) c.524A>C (p.His175Pro) c.458A>C (p.His153Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699887A>G | CA359695511 | GHR | c.503A>G (p.His168Arg) c.437A>G (p.His146Arg) c.*115A>G (n.*115A>G) c.524A>G (p.His175Arg) c.458A>G (p.His153Arg) | |
5 | g.42699887A>T | CA359695512 | GHR | c.503A>T (p.His168Leu) c.437A>T (p.His146Leu) c.*115A>T (n.*115A>T) c.524A>T (p.His175Leu) c.458A>T (p.His153Leu) | |
5 | g.42699888T>A | CA359695513 | GHR | c.504T>A (p.His168Gln) c.438T>A (p.His146Gln) c.*116T>A (n.*116T>A) c.525T>A (p.His175Gln) c.459T>A (p.His153Gln) | |
5 | g.42699888T>C | CA3254423 | GHR | c.504T>C (p.His168=) c.438T>C (p.His146=) c.*116T>C (n.*116T>C) c.525T>C (p.His175=) c.459T>C (p.His153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699888T>G | CA119819 | GHR | c.504T>G (p.His168Gln) c.438T>G (p.His146Gln) c.*116T>G (n.*116T>G) c.525T>G (p.His175Gln) c.459T>G (p.His153Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699888T= | CA1542294097 | GHR | c.504T= (p.His168=) c.438T= (p.His146=) c.*116T= (n.*116T=) c.525T= (p.His175=) c.459T= (p.His153=) | |
5 | g.42699889G>A | CA359695515 | GHR | c.505G>A (p.Ala169Thr) c.439G>A (p.Ala147Thr) c.*117G>A (n.*117G>A) c.526G>A (p.Ala176Thr) c.460G>A (p.Ala154Thr) | dbSNP |
5 | g.42699889G>C | CA359695514 | GHR | c.505G>C (p.Ala169Pro) c.439G>C (p.Ala147Pro) c.*117G>C (n.*117G>C) c.526G>C (p.Ala176Pro) c.460G>C (p.Ala154Pro) | |
5 | g.42699889G= | CA1542294102 | GHR | c.505G= (p.Ala169=) c.439G= (p.Ala147=) c.*117G= (n.*117G=) c.526G= (p.Ala176=) c.460G= (p.Ala154=) | |
5 | g.42699889G>T | CA359695516 | GHR | c.505G>T (p.Ala169Ser) c.439G>T (p.Ala147Ser) c.*117G>T (n.*117G>T) c.526G>T (p.Ala176Ser) c.460G>T (p.Ala154Ser) | COSMIC |
5 | g.42699890C>A | CA359695517 | GHR | c.506C>A (p.Ala169Glu) c.440C>A (p.Ala147Glu) c.*118C>A (n.*118C>A) c.527C>A (p.Ala176Glu) c.461C>A (p.Ala154Glu) | gnomAD v4 |
5 | g.42699890C= | CA1542294107 | GHR | c.506C= (p.Ala169=) c.440C= (p.Ala147=) c.*118C= (n.*118C=) c.527C= (p.Ala176=) c.461C= (p.Ala154=) | |
5 | g.42699890C>G | CA359695519 | GHR | c.506C>G (p.Ala169Gly) c.440C>G (p.Ala147Gly) c.*118C>G (n.*118C>G) c.527C>G (p.Ala176Gly) c.461C>G (p.Ala154Gly) | |
5 | g.42699890C>T | CA359695518 | GHR | c.506C>T (p.Ala169Val) c.440C>T (p.Ala147Val) c.*118C>T (n.*118C>T) c.527C>T (p.Ala176Val) c.461C>T (p.Ala154Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.42699891A>C | CA443842047 | GHR | c.507A>C (p.Ala169=) c.441A>C (p.Ala147=) c.*119A>C (n.*119A>C) c.528A>C (p.Ala176=) c.462A>C (p.Ala154=) | |
5 | g.42699891A>G | CA443842054 | GHR | c.507A>G (p.Ala169=) c.441A>G (p.Ala147=) c.*119A>G (n.*119A>G) c.528A>G (p.Ala176=) c.462A>G (p.Ala154=) | gnomAD v4 |
5 | g.42699891A>T | CA443842050 | GHR | c.507A>T (p.Ala169=) c.441A>T (p.Ala147=) c.*119A>T (n.*119A>T) c.528A>T (p.Ala176=) c.462A>T (p.Ala154=) | |
5 | g.42699892G>A | CA359695520 | GHR | c.508G>A (p.Asp170Asn) c.442G>A (p.Asp148Asn) c.*120G>A (n.*120G>A) c.529G>A (p.Asp177Asn) c.463G>A (p.Asp155Asn) | |
5 | g.42699892G>C | CA119811 | GHR | c.508G>C (p.Asp170His) c.442G>C (p.Asp148His) c.*120G>C (n.*120G>C) c.529G>C (p.Asp177His) c.463G>C (p.Asp155His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.42699892G= | CA1542294115 | GHR | c.508G= (p.Asp170=) c.442G= (p.Asp148=) c.*120G= (n.*120G=) c.529G= (p.Asp177=) c.463G= (p.Asp155=) | |
5 | g.42699892G>T | CA359695521 | GHR | c.508G>T (p.Asp170Tyr) c.442G>T (p.Asp148Tyr) c.*120G>T (n.*120G>T) c.529G>T (p.Asp177Tyr) c.463G>T (p.Asp155Tyr) | |
5 | g.42699893A>C | CA359695522 | GHR | c.509A>C (p.Asp170Ala) c.443A>C (p.Asp148Ala) c.*121A>C (n.*121A>C) c.530A>C (p.Asp177Ala) c.464A>C (p.Asp155Ala) | |
5 | g.42699893A>G | CA359695523 | GHR | c.509A>G (p.Asp170Gly) c.443A>G (p.Asp148Gly) c.*121A>G (n.*121A>G) c.530A>G (p.Asp177Gly) c.464A>G (p.Asp155Gly) | |
5 | g.42699893A>T | CA359695524 | GHR | c.509A>T (p.Asp170Val) c.443A>T (p.Asp148Val) c.*121A>T (n.*121A>T) c.530A>T (p.Asp177Val) c.464A>T (p.Asp155Val) | |
5 | g.42699894T>A | CA359695525 | GHR | c.510T>A (p.Asp170Glu) c.444T>A (p.Asp148Glu) c.*122T>A (n.*122T>A) c.531T>A (p.Asp177Glu) c.465T>A (p.Asp155Glu) | |
5 | g.42699894T>C | CA443842076 | GHR | c.510T>C (p.Asp170=) c.444T>C (p.Asp148=) c.*122T>C (n.*122T>C) c.531T>C (p.Asp177=) c.465T>C (p.Asp155=) | |
5 | g.42699894T>G | CA359695526 | GHR | c.510T>G (p.Asp170Glu) c.444T>G (p.Asp148Glu) c.*122T>G (n.*122T>G) c.531T>G (p.Asp177Glu) c.465T>G (p.Asp155Glu) | |
5 | g.42699895A>C | CA359695527 | GHR | c.511A>C (p.Ile171Leu) c.445A>C (p.Ile149Leu) c.*123A>C (n.*123A>C) c.532A>C (p.Ile178Leu) c.466A>C (p.Ile156Leu) | |
5 | g.42699895A>G | CA359695528 | GHR | c.511A>G (p.Ile171Val) c.445A>G (p.Ile149Val) c.*123A>G (n.*123A>G) c.532A>G (p.Ile178Val) c.466A>G (p.Ile156Val) | |
5 | g.42699895A>T | CA359695529 | GHR | c.511A>T (p.Ile171Phe) c.445A>T (p.Ile149Phe) c.*123A>T (n.*123A>T) c.532A>T (p.Ile178Phe) c.466A>T (p.Ile156Phe) | |
5 | g.42699896T>A | CA359695531 | GHR | c.512T>A (p.Ile171Asn) c.446T>A (p.Ile149Asn) c.*124T>A (n.*124T>A) c.533T>A (p.Ile178Asn) c.467T>A (p.Ile156Asn) | gnomAD v4 |
5 | g.42699896T>C | CA119812 | GHR | c.512T>C (p.Ile171Thr) c.446T>C (p.Ile149Thr) c.*124T>C (n.*124T>C) c.533T>C (p.Ile178Thr) c.467T>C (p.Ile156Thr) | ClinVar dbSNP gnomAD v4 |
5 | g.42699896T>G | CA359695530 | GHR | c.512T>G (p.Ile171Ser) c.446T>G (p.Ile149Ser) c.*124T>G (n.*124T>G) c.533T>G (p.Ile178Ser) c.467T>G (p.Ile156Ser) | |
5 | g.42699896T= | CA1542294128 | GHR | c.512T= (p.Ile171=) c.446T= (p.Ile149=) c.*124T= (n.*124T=) c.533T= (p.Ile178=) c.467T= (p.Ile156=) |