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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) |