UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42711193_42711194insGTTGTCAATATAGGGTCCATCTTTCAAGACAAAATAAAAACGCATATTGCATTGAGTTGTTGACGCTTTGGCCAATATGCGTTTTTAT | CA2766052866 | GHR | c.619-14_619-13insGTTGTCAATATAGGGTCCATCTTTCAAGACAAAATAAAAACGCATATTGCATTGAGTTGTTGACGCTTTGGCCAATATGCGTTTTTAT (n.619-14_619-13insGTTGTCAATATAGGGTCCATCTTTCAAGACAAAATAAAAACGCATATTGCATTGAGTTGTTGACGCTTTGGCCAATATGCGTTTTTAT) c.553-14_553-13insGTTGTCAATATAGGGTCCATCTTTCAAGACAAAATAAAAACGCATATTGCATTGAGTTGTTGACGCTTTGGCCAATATGCGTTTTTAT (n.553-14_553-13insGTTGTCAATATAGGGTCCATCTTTCAAGACAAAATAAAAACGCATATTGCATTGAGTTGTTGACGCTTTGGCCAATATGCGTTTTTAT) c.*231-14_*231-13insGTTGTCAATATAGGGTCCATCTTTCAAGACAAAATAAAAACGCATATTGCATTGAGTTGTTGACGCTTTGGCCAATATGCGTTTTTAT (n.*231-14_*231-13insGTTGTCAATATAGGGTCCATCTTTCAAGACAAAATAAAAACGCATATTGCATTGAGTTGTTGACGCTTTGGCCAATATGCGTTTTTAT) c.640-14_640-13insGTTGTCAATATAGGGTCCATCTTTCAAGACAAAATAAAAACGCATATTGCATTGAGTTGTTGACGCTTTGGCCAATATGCGTTTTTAT (n.640-14_640-13insGTTGTCAATATAGGGTCCATCTTTCAAGACAAAATAAAAACGCATATTGCATTGAGTTGTTGACGCTTTGGCCAATATGCGTTTTTAT) c.574-14_574-13insGTTGTCAATATAGGGTCCATCTTTCAAGACAAAATAAAAACGCATATTGCATTGAGTTGTTGACGCTTTGGCCAATATGCGTTTTTAT (n.574-14_574-13insGTTGTCAATATAGGGTCCATCTTTCAAGACAAAATAAAAACGCATATTGCATTGAGTTGTTGACGCTTTGGCCAATATGCGTTTTTAT) | |
| 5 | g.42711193T= | CA1542304714 | GHR | c.619-14T= (n.619-14T=) c.553-14T= (n.553-14T=) c.*231-14T= (n.*231-14T=) c.640-14T= (n.640-14T=) c.574-14T= (n.574-14T=) | |
| 5 | g.42711193_42711194insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC | CA1542304717 | GHR | c.619-14_619-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC (n.619-14_619-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC) c.553-14_553-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC (n.553-14_553-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC) c.*231-14_*231-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC (n.*231-14_*231-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC) c.640-14_640-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC (n.640-14_640-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC) c.574-14_574-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC (n.574-14_574-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC) | dbSNP |
| 5 | g.42711194T>A | CA118049492 | GHR | c.619-13T>A (n.619-13T>A) c.553-13T>A (n.553-13T>A) c.*231-13T>A (n.*231-13T>A) c.640-13T>A (n.640-13T>A) c.574-13T>A (n.574-13T>A) | dbSNP gnomAD v4 |
| 5 | g.42711194T>G | CA3254457 | GHR | c.619-13T>G (n.619-13T>G) c.553-13T>G (n.553-13T>G) c.*231-13T>G (n.*231-13T>G) c.640-13T>G (n.640-13T>G) c.574-13T>G (n.574-13T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42711194T= | CA1542304719 | GHR | c.619-13T= (n.619-13T=) c.553-13T= (n.553-13T=) c.*231-13T= (n.*231-13T=) c.640-13T= (n.640-13T=) c.574-13T= (n.574-13T=) | |
| 5 | g.42711196_42711197delinsTG | CA1542304721 | GHR | c.619-11_619-10delinsTG (n.619-11_619-10delinsTG) c.553-11_553-10delinsTG (n.553-11_553-10delinsTG) c.*231-11_*231-10delinsTG (n.*231-11_*231-10delinsTG) c.640-11_640-10delinsTG (n.640-11_640-10delinsTG) c.574-11_574-10delinsTG (n.574-11_574-10delinsTG) | |
| 5 | g.42711197del | CA1075490878 | GHR | c.619-10del (n.619-10del) c.553-10del (n.553-10del) c.*231-10del (n.*231-10del) c.640-10del (n.640-10del) c.574-10del (n.574-10del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42711197G>A | CA2697547153 | GHR | c.619-10G>A (n.619-10G>A) c.553-10G>A (n.553-10G>A) c.*231-10G>A (n.*231-10G>A) c.640-10G>A (n.640-10G>A) c.574-10G>A (n.574-10G>A) | ClinVar |
| 5 | g.42711197G= | CA1542304723 | GHR | c.619-10G= (n.619-10G=) c.553-10G= (n.553-10G=) c.*231-10G= (n.*231-10G=) c.640-10G= (n.640-10G=) c.574-10G= (n.574-10G=) | |
| 5 | g.42711197G>T | CA1542304724 | GHR | c.619-10G>T (n.619-10G>T) c.553-10G>T (n.553-10G>T) c.*231-10G>T (n.*231-10G>T) c.640-10G>T (n.640-10G>T) c.574-10G>T (n.574-10G>T) | dbSNP gnomAD v4 |
| 5 | g.42711198T>C | CA559293429 | GHR | c.619-9T>C (n.619-9T>C) c.553-9T>C (n.553-9T>C) c.*231-9T>C (n.*231-9T>C) c.640-9T>C (n.640-9T>C) c.574-9T>C (n.574-9T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42711198T= | CA1542304726 | GHR | c.619-9T= (n.619-9T=) c.553-9T= (n.553-9T=) c.*231-9T= (n.*231-9T=) c.640-9T= (n.640-9T=) c.574-9T= (n.574-9T=) | |
| 5 | g.42711200T>G | CA559293430 | GHR | c.619-7T>G (n.619-7T>G) c.553-7T>G (n.553-7T>G) c.*231-7T>G (n.*231-7T>G) c.640-7T>G (n.640-7T>G) c.574-7T>G (n.574-7T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42711200T= | CA1542304728 | GHR | c.619-7T= (n.619-7T=) c.553-7T= (n.553-7T=) c.*231-7T= (n.*231-7T=) c.640-7T= (n.640-7T=) c.574-7T= (n.574-7T=) | |
| 5 | g.42711201T>C | CA2708906295 | GHR | c.619-6T>C (n.619-6T>C) c.553-6T>C (n.553-6T>C) c.*231-6T>C (n.*231-6T>C) c.640-6T>C (n.640-6T>C) c.574-6T>C (n.574-6T>C) | dbSNP |
| 5 | g.42711201T>G | CA2673724020 | GHR | c.619-6T>G (n.619-6T>G) c.553-6T>G (n.553-6T>G) c.*231-6T>G (n.*231-6T>G) c.640-6T>G (n.640-6T>G) c.574-6T>G (n.574-6T>G) | gnomAD v4 |
| 5 | g.42711202G>A | CA1075490881 | GHR | c.619-5G>A (n.619-5G>A) c.553-5G>A (n.553-5G>A) c.*231-5G>A (n.*231-5G>A) c.640-5G>A (n.640-5G>A) c.574-5G>A (n.574-5G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42711202G= | CA1542304730 | GHR | c.619-5G= (n.619-5G=) c.553-5G= (n.553-5G=) c.*231-5G= (n.*231-5G=) c.640-5G= (n.640-5G=) c.574-5G= (n.574-5G=) | |
| 5 | g.42711204_42711206delinsAAG | CA1542304731 | GHR | c.619-3_619-1delinsAAG (n.619-3_619-1delinsAAG) c.553-3_553-1delinsAAG (n.553-3_553-1delinsAAG) c.*231-3_*231-1delinsAAG (n.*231-3_*231-1delinsAAG) c.640-3_640-1delinsAAG (n.640-3_640-1delinsAAG) c.574-3_574-1delinsAAG (n.574-3_574-1delinsAAG) | |
| 5 | g.42711205A>C | CA359695779 | GHR | c.619-2A>C (n.619-2A>C) c.553-2A>C (n.553-2A>C) c.*231-2A>C (n.*231-2A>C) c.640-2A>C (n.640-2A>C) c.574-2A>C (n.574-2A>C) | |
| 5 | g.42711205A>G | CA359695780 | GHR | c.619-2A>G (n.619-2A>G) c.553-2A>G (n.553-2A>G) c.*231-2A>G (n.*231-2A>G) c.640-2A>G (n.640-2A>G) c.574-2A>G (n.574-2A>G) | |
| 5 | g.42711205A>T | CA359695781 | GHR | c.619-2A>T (n.619-2A>T) c.553-2A>T (n.553-2A>T) c.*231-2A>T (n.*231-2A>T) c.640-2A>T (n.640-2A>T) c.574-2A>T (n.574-2A>T) | |
| 5 | g.42711206_42711207del | CA559293431 | GHR | c.619-1_619del c.553-1_553del c.*231-1_*231del c.640-1_640del c.574-1_574del | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42711206G>A | CA359695782 | GHR | c.619-1G>A (n.619-1G>A) c.553-1G>A (n.553-1G>A) c.*231-1G>A (n.*231-1G>A) c.640-1G>A (n.640-1G>A) c.574-1G>A (n.574-1G>A) | |
| 5 | g.42711206G>C | CA359695783 | GHR | c.619-1G>C (n.619-1G>C) c.553-1G>C (n.553-1G>C) c.*231-1G>C (n.*231-1G>C) c.640-1G>C (n.640-1G>C) c.574-1G>C (n.574-1G>C) | |
| 5 | g.42711206G= | CA1542304736 | GHR | c.619-1G= (n.619-1G=) c.553-1G= (n.553-1G=) c.*231-1G= (n.*231-1G=) c.640-1G= (n.640-1G=) c.574-1G= (n.574-1G=) | |
| 5 | g.42711206G>T | CA212900 | GHR | c.619-1G>T (n.619-1G>T) c.553-1G>T (n.553-1G>T) c.*231-1G>T (n.*231-1G>T) c.640-1G>T (n.640-1G>T) c.574-1G>T (n.574-1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.42711207A= | CA1542304741 | GHR | c.619A= (p.Met207=) c.553A= (p.Met185=) c.*231A= (n.*231A=) c.640A= (p.Met214=) c.574A= (p.Met192=) | |
| 5 | g.42711207A>C | CA359695785 | GHR | c.619A>C (p.Met207Leu) c.553A>C (p.Met185Leu) c.*231A>C (n.*231A>C) c.640A>C (p.Met214Leu) c.574A>C (p.Met192Leu) | |
| 5 | g.42711207A>G | CA3254458 | GHR | c.619A>G (p.Met207Val) c.553A>G (p.Met185Val) c.*231A>G (n.*231A>G) c.640A>G (p.Met214Val) c.574A>G (p.Met192Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42711207A>T | CA359695784 | GHR | c.619A>T (p.Met207Leu) c.553A>T (p.Met185Leu) c.*231A>T (n.*231A>T) c.640A>T (p.Met214Leu) c.574A>T (p.Met192Leu) | |
| 5 | g.42711208T>A | CA359695786 | GHR | c.620T>A (p.Met207Lys) c.554T>A (p.Met185Lys) c.*232T>A (n.*232T>A) c.641T>A (p.Met214Lys) c.575T>A (p.Met192Lys) | |
| 5 | g.42711208T>C | CA359695787 | GHR | c.620T>C (p.Met207Thr) c.554T>C (p.Met185Thr) c.*232T>C (n.*232T>C) c.641T>C (p.Met214Thr) c.575T>C (p.Met192Thr) | gnomAD v4 COSMIC |
| 5 | g.42711208T>G | CA359695788 | GHR | c.620T>G (p.Met207Arg) c.554T>G (p.Met185Arg) c.*232T>G (n.*232T>G) c.641T>G (p.Met214Arg) c.575T>G (p.Met192Arg) | gnomAD v4 |
| 5 | g.42711209G>A | CA359695789 | GHR | c.621G>A (p.Met207Ile) c.555G>A (p.Met185Ile) c.*233G>A (n.*233G>A) c.642G>A (p.Met214Ile) c.576G>A (p.Met192Ile) | |
| 5 | g.42711209G>C | CA359695790 | GHR | c.621G>C (p.Met207Ile) c.555G>C (p.Met185Ile) c.*233G>C (n.*233G>C) c.642G>C (p.Met214Ile) c.576G>C (p.Met192Ile) | |
| 5 | g.42711209G>T | CA359695791 | GHR | c.621G>T (p.Met207Ile) c.555G>T (p.Met185Ile) c.*233G>T (n.*233G>T) c.642G>T (p.Met214Ile) c.576G>T (p.Met192Ile) | |
| 5 | g.42711210del | CA2673724021 | GHR | c.622del (p.Asp208ThrfsTer4) c.556del (p.Asp186ThrfsTer4) c.*234del (n.*234del) c.643del (p.Asp215ThrfsTer4) c.577del (p.Asp193ThrfsTer4) | gnomAD v4 |
| 5 | g.42711210G>A | CA359695792 | GHR | c.622G>A (p.Asp208Asn) c.556G>A (p.Asp186Asn) c.*234G>A (n.*234G>A) c.643G>A (p.Asp215Asn) c.577G>A (p.Asp193Asn) | COSMIC |
| 5 | g.42711210G>C | CA359695793 | GHR | c.622G>C (p.Asp208His) c.556G>C (p.Asp186His) c.*234G>C (n.*234G>C) c.643G>C (p.Asp215His) c.577G>C (p.Asp193His) | |
| 5 | g.42711210G>T | CA359695794 | GHR | c.622G>T (p.Asp208Tyr) c.556G>T (p.Asp186Tyr) c.*234G>T (n.*234G>T) c.643G>T (p.Asp215Tyr) c.577G>T (p.Asp193Tyr) | gnomAD v4 |
| 5 | g.42711211A= | CA1542304744 | GHR | c.623A= (p.Asp208=) c.557A= (p.Asp186=) c.*235A= (n.*235A=) c.644A= (p.Asp215=) c.578A= (p.Asp193=) | |
| 5 | g.42711211A>C | CA359695795 | GHR | c.623A>C (p.Asp208Ala) c.557A>C (p.Asp186Ala) c.*235A>C (n.*235A>C) c.644A>C (p.Asp215Ala) c.578A>C (p.Asp193Ala) | |
| 5 | g.42711211A>G | CA359695796 | GHR | c.623A>G (p.Asp208Gly) c.557A>G (p.Asp186Gly) c.*235A>G (n.*235A>G) c.644A>G (p.Asp215Gly) c.578A>G (p.Asp193Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42711211A>T | CA359695797 | GHR | c.623A>T (p.Asp208Val) c.557A>T (p.Asp186Val) c.*235A>T (n.*235A>T) c.644A>T (p.Asp215Val) c.578A>T (p.Asp193Val) | |
| 5 | g.42711212C>A | CA359695799 | GHR | c.624C>A (p.Asp208Glu) c.558C>A (p.Asp186Glu) c.*236C>A (n.*236C>A) c.645C>A (p.Asp215Glu) c.579C>A (p.Asp193Glu) | |
| 5 | g.42711212C>G | CA359695798 | GHR | c.624C>G (p.Asp208Glu) c.558C>G (p.Asp186Glu) c.*236C>G (n.*236C>G) c.645C>G (p.Asp215Glu) c.579C>G (p.Asp193Glu) | |
| 5 | g.42711212C>T | CA443847411 | GHR | c.624C>T (p.Asp208=) c.558C>T (p.Asp186=) c.*236C>T (n.*236C>T) c.645C>T (p.Asp215=) c.579C>T (p.Asp193=) | |
| 5 | g.42711213C>A | CA359695800 | GHR | c.625C>A (p.Pro209Thr) c.559C>A (p.Pro187Thr) c.*237C>A (n.*237C>A) c.646C>A (p.Pro216Thr) c.580C>A (p.Pro194Thr) | |
| 5 | g.42711213C>G | CA359695801 | GHR | c.625C>G (p.Pro209Ala) c.559C>G (p.Pro187Ala) c.*237C>G (n.*237C>G) c.646C>G (p.Pro216Ala) c.580C>G (p.Pro194Ala) | |
| 5 | g.42711213C>T | CA359695802 | GHR | c.625C>T (p.Pro209Ser) c.559C>T (p.Pro187Ser) c.*237C>T (n.*237C>T) c.646C>T (p.Pro216Ser) c.580C>T (p.Pro194Ser) | |
| 5 | g.42711214C>A | CA359695803 | GHR | c.626C>A (p.Pro209His) c.560C>A (p.Pro187His) c.*238C>A (n.*238C>A) c.647C>A (p.Pro216His) c.581C>A (p.Pro194His) | |
| 5 | g.42711214C>G | CA359695804 | GHR | c.626C>G (p.Pro209Arg) c.560C>G (p.Pro187Arg) c.*238C>G (n.*238C>G) c.647C>G (p.Pro216Arg) c.581C>G (p.Pro194Arg) | |
| 5 | g.42711214C>T | CA359695805 | GHR | c.626C>T (p.Pro209Leu) c.560C>T (p.Pro187Leu) c.*238C>T (n.*238C>T) c.647C>T (p.Pro216Leu) c.581C>T (p.Pro194Leu) | gnomAD v4 |
| 5 | g.42711215T>A | CA443847427 | GHR | c.627T>A (p.Pro209=) c.561T>A (p.Pro187=) c.*239T>A (n.*239T>A) c.648T>A (p.Pro216=) c.582T>A (p.Pro194=) | |
| 5 | g.42711215T>C | CA443847425 | GHR | c.627T>C (p.Pro209=) c.561T>C (p.Pro187=) c.*239T>C (n.*239T>C) c.648T>C (p.Pro216=) c.582T>C (p.Pro194=) | gnomAD v4 |
| 5 | g.42711215T>G | CA443847426 | GHR | c.627T>G (p.Pro209=) c.561T>G (p.Pro187=) c.*239T>G (n.*239T>G) c.648T>G (p.Pro216=) c.582T>G (p.Pro194=) | |
| 5 | g.42711216A= | CA1542304749 | GHR | c.628A= (p.Ile210=) c.562A= (p.Ile188=) c.*240A= (n.*240A=) c.649A= (p.Ile217=) c.583A= (p.Ile195=) | |
| 5 | g.42711216A>C | CA359695807 | GHR | c.628A>C (p.Ile210Leu) c.562A>C (p.Ile188Leu) c.*240A>C (n.*240A>C) c.649A>C (p.Ile217Leu) c.583A>C (p.Ile195Leu) | |
| 5 | g.42711216A>G | CA3254459 | GHR | c.628A>G (p.Ile210Val) c.562A>G (p.Ile188Val) c.*240A>G (n.*240A>G) c.649A>G (p.Ile217Val) c.583A>G (p.Ile195Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42711216A>T | CA359695806 | GHR | c.628A>T (p.Ile210Leu) c.562A>T (p.Ile188Leu) c.*240A>T (n.*240A>T) c.649A>T (p.Ile217Leu) c.583A>T (p.Ile195Leu) | |
| 5 | g.42711217T>A | CA359695808 | GHR | c.629T>A (p.Ile210Lys) c.563T>A (p.Ile188Lys) c.*241T>A (n.*241T>A) c.650T>A (p.Ile217Lys) c.584T>A (p.Ile195Lys) | |
| 5 | g.42711217T>C | CA359695809 | GHR | c.629T>C (p.Ile210Thr) c.563T>C (p.Ile188Thr) c.*241T>C (n.*241T>C) c.650T>C (p.Ile217Thr) c.584T>C (p.Ile195Thr) | gnomAD v4 |
| 5 | g.42711217T>G | CA359695810 | GHR | c.629T>G (p.Ile210Arg) c.563T>G (p.Ile188Arg) c.*241T>G (n.*241T>G) c.650T>G (p.Ile217Arg) c.584T>G (p.Ile195Arg) | |
| 5 | g.42711218A>C | CA443847436 | GHR | c.630A>C (p.Ile210=) c.564A>C (p.Ile188=) c.*242A>C (n.*242A>C) c.651A>C (p.Ile217=) c.585A>C (p.Ile195=) | |
| 5 | g.42711218A>G | CA359695811 | GHR | c.630A>G (p.Ile210Met) c.564A>G (p.Ile188Met) c.*242A>G (n.*242A>G) c.651A>G (p.Ile217Met) c.585A>G (p.Ile195Met) | gnomAD v4 |
| 5 | g.42711218A>T | CA443847439 | GHR | c.630A>T (p.Ile210=) c.564A>T (p.Ile188=) c.*242A>T (n.*242A>T) c.651A>T (p.Ile217=) c.585A>T (p.Ile195=) | |
| 5 | g.42711219T>A | CA359695812 | GHR | c.631T>A (p.Leu211Met) c.565T>A (p.Leu189Met) c.*243T>A (n.*243T>A) c.652T>A (p.Leu218Met) c.586T>A (p.Leu196Met) | |
| 5 | g.42711219T>C | CA443847446 | GHR | c.631T>C (p.Leu211=) c.565T>C (p.Leu189=) c.*243T>C (n.*243T>C) c.652T>C (p.Leu218=) c.586T>C (p.Leu196=) | |
| 5 | g.42711219T>G | CA359695813 | GHR | c.631T>G (p.Leu211Val) c.565T>G (p.Leu189Val) c.*243T>G (n.*243T>G) c.652T>G (p.Leu218Val) c.586T>G (p.Leu196Val) | |
| 5 | g.42711220T>A | CA359695814 | GHR | c.632T>A (p.Leu211Ter) c.566T>A (p.Leu189Ter) c.*244T>A (n.*244T>A) c.653T>A (p.Leu218Ter) c.587T>A (p.Leu196Ter) | dbSNP |
| 5 | g.42711220T>C | CA359695816 | GHR | c.632T>C (p.Leu211Ser) c.566T>C (p.Leu189Ser) c.*244T>C (n.*244T>C) c.653T>C (p.Leu218Ser) c.587T>C (p.Leu196Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42711220T>G | CA359695815 | GHR | c.632T>G (p.Leu211Trp) c.566T>G (p.Leu189Trp) c.*244T>G (n.*244T>G) c.653T>G (p.Leu218Trp) c.587T>G (p.Leu196Trp) | |
| 5 | g.42711220T= | CA1542304754 | GHR | c.632T= (p.Leu211=) c.566T= (p.Leu189=) c.*244T= (n.*244T=) c.653T= (p.Leu218=) c.587T= (p.Leu196=) | |
| 5 | g.42711221G>A | CA443847456 | GHR | c.633G>A (p.Leu211=) c.567G>A (p.Leu189=) c.*245G>A (n.*245G>A) c.654G>A (p.Leu218=) c.588G>A (p.Leu196=) | |
| 5 | g.42711221G>C | CA359695817 | GHR | c.633G>C (p.Leu211Phe) c.567G>C (p.Leu189Phe) c.*245G>C (n.*245G>C) c.654G>C (p.Leu218Phe) c.588G>C (p.Leu196Phe) | |
| 5 | g.42711221G= | CA1542304758 | GHR | c.633G= (p.Leu211=) c.567G= (p.Leu189=) c.*245G= (n.*245G=) c.654G= (p.Leu218=) c.588G= (p.Leu196=) | |
| 5 | g.42711221G>T | CA118049493 | GHR | c.633G>T (p.Leu211Phe) c.567G>T (p.Leu189Phe) c.*245G>T (n.*245G>T) c.654G>T (p.Leu218Phe) c.588G>T (p.Leu196Phe) | dbSNP |
| 5 | g.42711222A>C | CA359695818 | GHR | c.634A>C (p.Thr212Pro) c.568A>C (p.Thr190Pro) c.*246A>C (n.*246A>C) c.655A>C (p.Thr219Pro) c.589A>C (p.Thr197Pro) | |
| 5 | g.42711222A>G | CA359695819 | GHR | c.634A>G (p.Thr212Ala) c.568A>G (p.Thr190Ala) c.*246A>G (n.*246A>G) c.655A>G (p.Thr219Ala) c.589A>G (p.Thr197Ala) | gnomAD v4 |
| 5 | g.42711222A>T | CA359695820 | GHR | c.634A>T (p.Thr212Ser) c.568A>T (p.Thr190Ser) c.*246A>T (n.*246A>T) c.655A>T (p.Thr219Ser) c.589A>T (p.Thr197Ser) | dbSNP |
| 5 | g.42711223C>A | CA359695821 | GHR | c.635C>A (p.Thr212Lys) c.569C>A (p.Thr190Lys) c.*247C>A (n.*247C>A) c.656C>A (p.Thr219Lys) c.590C>A (p.Thr197Lys) | |
| 5 | g.42711223C= | CA1542304761 | GHR | c.635C= (p.Thr212=) c.569C= (p.Thr190=) c.*247C= (n.*247C=) c.656C= (p.Thr219=) c.590C= (p.Thr197=) | |
| 5 | g.42711223C>G | CA359695822 | GHR | c.635C>G (p.Thr212Arg) c.569C>G (p.Thr190Arg) c.*247C>G (n.*247C>G) c.656C>G (p.Thr219Arg) c.590C>G (p.Thr197Arg) | |
| 5 | g.42711223C>T | CA3254460 | GHR | c.635C>T (p.Thr212Ile) c.569C>T (p.Thr190Ile) c.*247C>T (n.*247C>T) c.656C>T (p.Thr219Ile) c.590C>T (p.Thr197Ile) | dbSNP ExAC gnomAD v2 |
| 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) | |
| 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) | |
| 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 |