Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
5 | g.42699897C>A | CA118048243 | GHR | c.513C>A (p.Ile171=) c.447C>A (p.Ile149=) c.*125C>A (n.*125C>A) c.534C>A (p.Ile178=) c.468C>A (p.Ile156=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.42699897C= | CA1542294131 | GHR | c.513C= (p.Ile171=) c.447C= (p.Ile149=) c.*125C= (n.*125C=) c.534C= (p.Ile178=) c.468C= (p.Ile156=) | |
5 | g.42699897C>G | CA359695532 | GHR | c.513C>G (p.Ile171Met) c.447C>G (p.Ile149Met) c.*125C>G (n.*125C>G) c.534C>G (p.Ile178Met) c.468C>G (p.Ile156Met) | |
5 | g.42699897C>T | CA443842107 | GHR | c.513C>T (p.Ile171=) c.447C>T (p.Ile149=) c.*125C>T (n.*125C>T) c.534C>T (p.Ile178=) c.468C>T (p.Ile156=) | gnomAD v4 |
5 | g.42699898C>A | CA359695533 | GHR | c.514C>A (p.Gln172Lys) c.448C>A (p.Gln150Lys) c.*126C>A (n.*126C>A) c.535C>A (p.Gln179Lys) c.469C>A (p.Gln157Lys) | gnomAD v4 |
5 | g.42699898C>G | CA359695534 | GHR | c.514C>G (p.Gln172Glu) c.448C>G (p.Gln150Glu) c.*126C>G (n.*126C>G) c.535C>G (p.Gln179Glu) c.469C>G (p.Gln157Glu) | |
5 | g.42699898C>T | CA359695535 | GHR | c.514C>T (p.Gln172Ter) c.448C>T (p.Gln150Ter) c.*126C>T (n.*126C>T) c.535C>T (p.Gln179Ter) c.469C>T (p.Gln157Ter) | gnomAD v4 |
5 | g.42699899A= | CA1542294138 | GHR | c.515A= (p.Gln172=) c.449A= (p.Gln150=) c.*127A= (n.*127A=) c.536A= (p.Gln179=) c.470A= (p.Gln157=) | |
5 | g.42699899A>C | CA119804 | GHR | c.515A>C (p.Gln172Pro) c.449A>C (p.Gln150Pro) c.*127A>C (n.*127A>C) c.536A>C (p.Gln179Pro) c.470A>C (p.Gln157Pro) | ClinVar dbSNP gnomAD v4 |
5 | g.42699899A>G | CA359695536 | GHR | c.515A>G (p.Gln172Arg) c.449A>G (p.Gln150Arg) c.*127A>G (n.*127A>G) c.536A>G (p.Gln179Arg) c.470A>G (p.Gln157Arg) | |
5 | g.42699899A>T | CA359695537 | GHR | c.515A>T (p.Gln172Leu) c.449A>T (p.Gln150Leu) c.*127A>T (n.*127A>T) c.536A>T (p.Gln179Leu) c.470A>T (p.Gln157Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699900A= | CA1542294141 | GHR | c.516A= (p.Gln172=) c.450A= (p.Gln150=) c.*128A= (n.*128A=) c.537A= (p.Gln179=) c.471A= (p.Gln157=) | |
5 | g.42699900A>C | CA359695538 | GHR | c.516A>C (p.Gln172His) c.450A>C (p.Gln150His) c.*128A>C (n.*128A>C) c.537A>C (p.Gln179His) c.471A>C (p.Gln157His) | gnomAD v4 |
5 | g.42699900A>G | CA3254424 | GHR | c.516A>G (p.Gln172=) c.450A>G (p.Gln150=) c.*128A>G (n.*128A>G) c.537A>G (p.Gln179=) c.471A>G (p.Gln157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.42699900A>T | CA359695539 | GHR | c.516A>T (p.Gln172His) c.450A>T (p.Gln150His) c.*128A>T (n.*128A>T) c.537A>T (p.Gln179His) c.471A>T (p.Gln157His) | |
5 | g.42699901G>A | CA359695542 | GHR | c.517G>A (p.Val173Met) c.451G>A (p.Val151Met) c.*129G>A (n.*129G>A) c.538G>A (p.Val180Met) c.472G>A (p.Val158Met) | |
5 | g.42699901G>C | CA359695541 | GHR | c.517G>C (p.Val173Leu) c.451G>C (p.Val151Leu) c.*129G>C (n.*129G>C) c.538G>C (p.Val180Leu) c.472G>C (p.Val158Leu) | |
5 | g.42699901G>T | CA359695540 | GHR | c.517G>T (p.Val173Leu) c.451G>T (p.Val151Leu) c.*129G>T (n.*129G>T) c.538G>T (p.Val180Leu) c.472G>T (p.Val158Leu) | |
5 | g.42699902T>A | CA118048244 | GHR | c.518T>A (p.Val173Glu) c.452T>A (p.Val151Glu) c.*130T>A (n.*130T>A) c.539T>A (p.Val180Glu) c.473T>A (p.Val158Glu) | dbSNP |
5 | g.42699902T>C | CA359695543 | GHR | c.518T>C (p.Val173Ala) c.452T>C (p.Val151Ala) c.*130T>C (n.*130T>C) c.539T>C (p.Val180Ala) c.473T>C (p.Val158Ala) | |
5 | g.42699902T>G | CA119807 | GHR | c.518T>G (p.Val173Gly) c.452T>G (p.Val151Gly) c.*130T>G (n.*130T>G) c.539T>G (p.Val180Gly) c.473T>G (p.Val158Gly) | ClinVar dbSNP |
5 | g.42699902T= | CA1542294143 | GHR | c.518T= (p.Val173=) c.452T= (p.Val151=) c.*130T= (n.*130T=) c.539T= (p.Val180=) c.473T= (p.Val158=) | |
5 | g.42699903G>A | CA443842153 | GHR | c.519G>A (p.Val173=) c.453G>A (p.Val151=) c.*131G>A (n.*131G>A) c.540G>A (p.Val180=) c.474G>A (p.Val158=) | |
5 | g.42699903G>C | CA443842155 | GHR | c.519G>C (p.Val173=) c.453G>C (p.Val151=) c.*131G>C (n.*131G>C) c.540G>C (p.Val180=) c.474G>C (p.Val158=) | |
5 | g.42699903G>T | CA443842158 | GHR | c.519G>T (p.Val173=) c.453G>T (p.Val151=) c.*131G>T (n.*131G>T) c.540G>T (p.Val180=) c.474G>T (p.Val158=) | gnomAD v4 |
5 | g.42699904A>C | CA443842164 | GHR | c.520A>C (p.Arg174=) c.454A>C (p.Arg152=) c.*132A>C (n.*132A>C) c.541A>C (p.Arg181=) c.475A>C (p.Arg159=) | |
5 | g.42699904A>G | CA359695544 | GHR | c.520A>G (p.Arg174Gly) c.454A>G (p.Arg152Gly) c.*132A>G (n.*132A>G) c.541A>G (p.Arg181Gly) c.475A>G (p.Arg159Gly) | gnomAD v4 |
5 | g.42699904A>T | CA359695545 | GHR | c.520A>T (p.Arg174Ter) c.454A>T (p.Arg152Ter) c.*132A>T (n.*132A>T) c.541A>T (p.Arg181Ter) c.475A>T (p.Arg159Ter) | |
5 | g.42699905_42699922del | CA2673723850 | GHR | c.521_538del (p.Arg174_Arg179del) c.455_472del (p.Arg152_Arg157del) c.*133_*150del (n.*133_*150del) c.542_559del (p.Arg181_Arg186del) c.476_493del (p.Arg159_Arg164del) | gnomAD v4 |
5 | g.42699905G>A | CA3254425 | GHR | c.521G>A (p.Arg174Lys) c.455G>A (p.Arg152Lys) c.*133G>A (n.*133G>A) c.542G>A (p.Arg181Lys) c.476G>A (p.Arg159Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.42699905G>C | CA359695546 | GHR | c.521G>C (p.Arg174Thr) c.455G>C (p.Arg152Thr) c.*133G>C (n.*133G>C) c.542G>C (p.Arg181Thr) c.476G>C (p.Arg159Thr) | |
5 | g.42699905G= | CA1542294153 | GHR | c.521G= (p.Arg174=) c.455G= (p.Arg152=) c.*133G= (n.*133G=) c.542G= (p.Arg181=) c.476G= (p.Arg159=) | |
5 | g.42699905G>T | CA359695547 | GHR | c.521G>T (p.Arg174Ile) c.455G>T (p.Arg152Ile) c.*133G>T (n.*133G>T) c.542G>T (p.Arg181Ile) c.476G>T (p.Arg159Ile) | |
5 | g.42699906A>C | CA359695548 | GHR | c.522A>C (p.Arg174Ser) c.456A>C (p.Arg152Ser) c.*134A>C (n.*134A>C) c.543A>C (p.Arg181Ser) c.477A>C (p.Arg159Ser) | |
5 | g.42699906A>G | CA443842184 | GHR | c.522A>G (p.Arg174=) c.456A>G (p.Arg152=) c.*134A>G (n.*134A>G) c.543A>G (p.Arg181=) c.477A>G (p.Arg159=) | gnomAD v4 |
5 | g.42699906A>T | CA359695549 | GHR | c.522A>T (p.Arg174Ser) c.456A>T (p.Arg152Ser) c.*134A>T (n.*134A>T) c.543A>T (p.Arg181Ser) c.477A>T (p.Arg159Ser) | |
5 | g.42699907T>A | CA359695550 | GHR | c.523T>A (p.Trp175Arg) c.457T>A (p.Trp153Arg) c.*135T>A (n.*135T>A) c.544T>A (p.Trp182Arg) c.478T>A (p.Trp160Arg) | |
5 | g.42699907T>C | CA359695551 | GHR | c.523T>C (p.Trp175Arg) c.457T>C (p.Trp153Arg) c.*135T>C (n.*135T>C) c.544T>C (p.Trp182Arg) c.478T>C (p.Trp160Arg) | |
5 | g.42699907T>G | CA359695552 | GHR | c.523T>G (p.Trp175Gly) c.457T>G (p.Trp153Gly) c.*135T>G (n.*135T>G) c.544T>G (p.Trp182Gly) c.478T>G (p.Trp160Gly) | |
5 | g.42699908G>A | CA359695553 | GHR | c.524G>A (p.Trp175Ter) c.458G>A (p.Trp153Ter) c.*136G>A (n.*136G>A) c.545G>A (p.Trp182Ter) c.479G>A (p.Trp160Ter) | gnomAD v4 |
5 | g.42699908G>C | CA359695555 | GHR | c.524G>C (p.Trp175Ser) c.458G>C (p.Trp153Ser) c.*136G>C (n.*136G>C) c.545G>C (p.Trp182Ser) c.479G>C (p.Trp160Ser) | |
5 | g.42699908G>T | CA359695554 | GHR | c.524G>T (p.Trp175Leu) c.458G>T (p.Trp153Leu) c.*136G>T (n.*136G>T) c.545G>T (p.Trp182Leu) c.479G>T (p.Trp160Leu) | gnomAD v4 |
5 | g.42699910del | CA2673723851 | GHR | c.526del (p.Glu176LysfsTer24) c.460del (p.Glu154LysfsTer24) c.*138del (n.*138del) c.547del (p.Glu183LysfsTer24) c.481del (p.Glu161LysfsTer24) | gnomAD v4 |
5 | g.42699909G>A | CA118048245 | GHR | c.525G>A (p.Trp175Ter) c.459G>A (p.Trp153Ter) c.*137G>A (n.*137G>A) c.546G>A (p.Trp182Ter) c.480G>A (p.Trp160Ter) | dbSNP gnomAD v4 COSMIC |
5 | g.42699909G>C | CA359695556 | GHR | c.525G>C (p.Trp175Cys) c.459G>C (p.Trp153Cys) c.*137G>C (n.*137G>C) c.546G>C (p.Trp182Cys) c.480G>C (p.Trp160Cys) | |
5 | g.42699909G= | CA1542294162 | GHR | c.525G= (p.Trp175=) c.459G= (p.Trp153=) c.*137G= (n.*137G=) c.546G= (p.Trp182=) c.480G= (p.Trp160=) |