WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.45677938C>A | CA507825102 | GIPR | c.957C>A (p.Gly319=) c.774C>A (p.Gly258=) c.849C>A (p.Gly283=) c.*28C>A (n.*28C>A) n.413C>A n.58C>A c.1083C>A (p.Gly361=) c.975C>A (p.Gly325=) c.834C>A (p.Gly278=) c.666C>A (p.Gly222=) c.*41C>A (n.*41C>A) n.976C>A c.612C>A (p.Gly204=) c.591C>A (p.Gly197=) c.468C>A (p.Gly156=) c.465C>A (p.Gly155=) n.1052C>A n.982C>A | dbSNP |
| 19 | g.45677938C= | CA2338552120 | GIPR | c.957C= (p.Gly319=) c.774C= (p.Gly258=) c.849C= (p.Gly283=) c.*28C= (n.*28C=) n.413C= n.58C= c.1083C= (p.Gly361=) c.975C= (p.Gly325=) c.834C= (p.Gly278=) c.666C= (p.Gly222=) c.*41C= (n.*41C=) n.976C= c.612C= (p.Gly204=) c.591C= (p.Gly197=) c.468C= (p.Gly156=) c.465C= (p.Gly155=) n.1052C= n.982C= | |
| 19 | g.45677938C>G | CA507825103 | GIPR | c.957C>G (p.Gly319=) c.774C>G (p.Gly258=) c.849C>G (p.Gly283=) c.*28C>G (n.*28C>G) n.413C>G n.58C>G c.1083C>G (p.Gly361=) c.975C>G (p.Gly325=) c.834C>G (p.Gly278=) c.666C>G (p.Gly222=) c.*41C>G (n.*41C>G) n.976C>G c.612C>G (p.Gly204=) c.591C>G (p.Gly197=) c.468C>G (p.Gly156=) c.465C>G (p.Gly155=) n.1052C>G n.982C>G | |
| 19 | g.45677938C>T | CA507825104 | GIPR | c.957C>T (p.Gly319=) c.774C>T (p.Gly258=) c.849C>T (p.Gly283=) c.*28C>T (n.*28C>T) n.413C>T n.58C>T c.1083C>T (p.Gly361=) c.975C>T (p.Gly325=) c.834C>T (p.Gly278=) c.666C>T (p.Gly222=) c.*41C>T (n.*41C>T) n.976C>T c.612C>T (p.Gly204=) c.591C>T (p.Gly197=) c.468C>T (p.Gly156=) c.465C>T (p.Gly155=) n.1052C>T n.982C>T | gnomAD v4 |
| 19 | g.45677939A= | CA2338552121 | GIPR | c.958A= (p.Ile320=) c.775A= (p.Ile259=) c.850A= (p.Ile284=) c.*29A= (n.*29A=) n.414A= n.59A= c.1084A= (p.Ile362=) c.976A= (p.Ile326=) c.835A= (p.Ile279=) c.667A= (p.Ile223=) c.*42A= (n.*42A=) n.977A= c.613A= (p.Ile205=) c.592A= (p.Ile198=) c.469A= (p.Ile157=) c.466A= (p.Ile156=) n.1053A= n.983A= | |
| 19 | g.45677939A>C | CA406395074 | GIPR | c.958A>C (p.Ile320Leu) c.775A>C (p.Ile259Leu) c.850A>C (p.Ile284Leu) c.*29A>C (n.*29A>C) n.414A>C n.59A>C c.1084A>C (p.Ile362Leu) c.976A>C (p.Ile326Leu) c.835A>C (p.Ile279Leu) c.667A>C (p.Ile223Leu) c.*42A>C (n.*42A>C) n.977A>C c.613A>C (p.Ile205Leu) c.592A>C (p.Ile198Leu) c.469A>C (p.Ile157Leu) c.466A>C (p.Ile156Leu) n.1053A>C n.983A>C | |
| 19 | g.45677939A>G | CA406395075 | GIPR | c.958A>G (p.Ile320Val) c.775A>G (p.Ile259Val) c.850A>G (p.Ile284Val) c.*29A>G (n.*29A>G) n.414A>G n.59A>G c.1084A>G (p.Ile362Val) c.976A>G (p.Ile326Val) c.835A>G (p.Ile279Val) c.667A>G (p.Ile223Val) c.*42A>G (n.*42A>G) n.977A>G c.613A>G (p.Ile205Val) c.592A>G (p.Ile198Val) c.469A>G (p.Ile157Val) c.466A>G (p.Ile156Val) n.1053A>G n.983A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45677939A>T | CA406395077 | GIPR | c.958A>T (p.Ile320Phe) c.775A>T (p.Ile259Phe) c.850A>T (p.Ile284Phe) c.*29A>T (n.*29A>T) n.414A>T n.59A>T c.1084A>T (p.Ile362Phe) c.976A>T (p.Ile326Phe) c.835A>T (p.Ile279Phe) c.667A>T (p.Ile223Phe) c.*42A>T (n.*42A>T) n.977A>T c.613A>T (p.Ile205Phe) c.592A>T (p.Ile198Phe) c.469A>T (p.Ile157Phe) c.466A>T (p.Ile156Phe) n.1053A>T n.983A>T | |
| 19 | g.45677940T>A | CA406395079 | GIPR | c.959T>A (p.Ile320Asn) c.776T>A (p.Ile259Asn) c.851T>A (p.Ile284Asn) c.*30T>A (n.*30T>A) n.415T>A n.60T>A c.1085T>A (p.Ile362Asn) c.977T>A (p.Ile326Asn) c.836T>A (p.Ile279Asn) c.668T>A (p.Ile223Asn) c.*43T>A (n.*43T>A) n.978T>A c.614T>A (p.Ile205Asn) c.593T>A (p.Ile198Asn) c.470T>A (p.Ile157Asn) c.467T>A (p.Ile156Asn) n.1054T>A n.984T>A | COSMIC COSMIC |
| 19 | g.45677940T>C | CA406395081 | GIPR | c.959T>C (p.Ile320Thr) c.776T>C (p.Ile259Thr) c.851T>C (p.Ile284Thr) c.*30T>C (n.*30T>C) n.415T>C n.60T>C c.1085T>C (p.Ile362Thr) c.977T>C (p.Ile326Thr) c.836T>C (p.Ile279Thr) c.668T>C (p.Ile223Thr) c.*43T>C (n.*43T>C) n.978T>C c.614T>C (p.Ile205Thr) c.593T>C (p.Ile198Thr) c.470T>C (p.Ile157Thr) c.467T>C (p.Ile156Thr) n.1054T>C n.984T>C | |
| 19 | g.45677940T>G | CA406395083 | GIPR | c.959T>G (p.Ile320Ser) c.776T>G (p.Ile259Ser) c.851T>G (p.Ile284Ser) c.*30T>G (n.*30T>G) n.415T>G n.60T>G c.1085T>G (p.Ile362Ser) c.977T>G (p.Ile326Ser) c.836T>G (p.Ile279Ser) c.668T>G (p.Ile223Ser) c.*43T>G (n.*43T>G) n.978T>G c.614T>G (p.Ile205Ser) c.593T>G (p.Ile198Ser) c.470T>G (p.Ile157Ser) c.467T>G (p.Ile156Ser) n.1054T>G n.984T>G | |
| 19 | g.45677941T>A | CA507825105 | GIPR | c.960T>A (p.Ile320=) c.777T>A (p.Ile259=) c.852T>A (p.Ile284=) c.*31T>A (n.*31T>A) n.416T>A n.61T>A c.1086T>A (p.Ile362=) c.978T>A (p.Ile326=) c.837T>A (p.Ile279=) c.669T>A (p.Ile223=) c.*44T>A (n.*44T>A) n.979T>A c.615T>A (p.Ile205=) c.594T>A (p.Ile198=) c.471T>A (p.Ile157=) c.468T>A (p.Ile156=) n.1055T>A n.985T>A | |
| 19 | g.45677941T>C | CA507825106 | GIPR | c.960T>C (p.Ile320=) c.777T>C (p.Ile259=) c.852T>C (p.Ile284=) c.*31T>C (n.*31T>C) n.416T>C n.61T>C c.1086T>C (p.Ile362=) c.978T>C (p.Ile326=) c.837T>C (p.Ile279=) c.669T>C (p.Ile223=) c.*44T>C (n.*44T>C) n.979T>C c.615T>C (p.Ile205=) c.594T>C (p.Ile198=) c.471T>C (p.Ile157=) c.468T>C (p.Ile156=) n.1055T>C n.985T>C | |
| 19 | g.45677941T>G | CA406395085 | GIPR | c.960T>G (p.Ile320Met) c.777T>G (p.Ile259Met) c.852T>G (p.Ile284Met) c.*31T>G (n.*31T>G) n.416T>G n.61T>G c.1086T>G (p.Ile362Met) c.978T>G (p.Ile326Met) c.837T>G (p.Ile279Met) c.669T>G (p.Ile223Met) c.*44T>G (n.*44T>G) n.979T>G c.615T>G (p.Ile205Met) c.594T>G (p.Ile198Met) c.471T>G (p.Ile157Met) c.468T>G (p.Ile156Met) n.1055T>G n.985T>G | |
| 19 | g.45677942C>A | CA406395087 | GIPR | c.961C>A (p.Leu321Ile) c.778C>A (p.Leu260Ile) c.853C>A (p.Leu285Ile) c.*32C>A (n.*32C>A) n.417C>A n.62C>A c.1087C>A (p.Leu363Ile) c.979C>A (p.Leu327Ile) c.838C>A (p.Leu280Ile) c.670C>A (p.Leu224Ile) c.*45C>A (n.*45C>A) n.980C>A c.616C>A (p.Leu206Ile) c.595C>A (p.Leu199Ile) c.472C>A (p.Leu158Ile) c.469C>A (p.Leu157Ile) n.1056C>A n.986C>A | |
| 19 | g.45677942C= | CA2338552122 | GIPR | c.961C= (p.Leu321=) c.778C= (p.Leu260=) c.853C= (p.Leu285=) c.*32C= (n.*32C=) n.417C= n.62C= c.1087C= (p.Leu363=) c.979C= (p.Leu327=) c.838C= (p.Leu280=) c.670C= (p.Leu224=) c.*45C= (n.*45C=) n.980C= c.616C= (p.Leu206=) c.595C= (p.Leu199=) c.472C= (p.Leu158=) c.469C= (p.Leu157=) n.1056C= n.986C= | |
| 19 | g.45677942C>G | CA406395088 | GIPR | c.961C>G (p.Leu321Val) c.778C>G (p.Leu260Val) c.853C>G (p.Leu285Val) c.*32C>G (n.*32C>G) n.417C>G n.62C>G c.1087C>G (p.Leu363Val) c.979C>G (p.Leu327Val) c.838C>G (p.Leu280Val) c.670C>G (p.Leu224Val) c.*45C>G (n.*45C>G) n.980C>G c.616C>G (p.Leu206Val) c.595C>G (p.Leu199Val) c.472C>G (p.Leu158Val) c.469C>G (p.Leu157Val) n.1056C>G n.986C>G | COSMIC |
| 19 | g.45677942C>T | CA406395089 | GIPR | c.961C>T (p.Leu321Phe) c.778C>T (p.Leu260Phe) c.853C>T (p.Leu285Phe) c.*32C>T (n.*32C>T) n.417C>T n.62C>T c.1087C>T (p.Leu363Phe) c.979C>T (p.Leu327Phe) c.838C>T (p.Leu280Phe) c.670C>T (p.Leu224Phe) c.*45C>T (n.*45C>T) n.980C>T c.616C>T (p.Leu206Phe) c.595C>T (p.Leu199Phe) c.472C>T (p.Leu158Phe) c.469C>T (p.Leu157Phe) n.1056C>T n.986C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45677944_45677946del | CA2585842705 | GIPR | c.963_965del (p.Leu322del) c.780_782del (p.Leu261del) c.855_857del (p.Leu286del) c.*34_*36del (n.*34_*36del) n.419_421del n.64_66del c.1089_1091del (p.Leu364del) c.981_983del (p.Leu328del) c.840_842del (p.Leu281del) c.672_674del (p.Leu225del) c.*47_*49del (n.*47_*49del) n.982_984del c.618_620del (p.Leu207del) c.597_599del (p.Leu200del) c.474_476del (p.Leu159del) c.471_473del (p.Leu158del) n.1058_1060del n.988_990del | gnomAD v4 |
| 19 | g.45677943T>A | CA406395093 | GIPR | c.962T>A (p.Leu321His) c.779T>A (p.Leu260His) c.854T>A (p.Leu285His) c.*33T>A (n.*33T>A) n.418T>A n.63T>A c.1088T>A (p.Leu363His) c.980T>A (p.Leu327His) c.839T>A (p.Leu280His) c.671T>A (p.Leu224His) c.*46T>A (n.*46T>A) n.981T>A c.617T>A (p.Leu206His) c.596T>A (p.Leu199His) c.473T>A (p.Leu158His) c.470T>A (p.Leu157His) n.1057T>A n.987T>A | |
| 19 | g.45677943T>C | CA406395095 | GIPR | c.962T>C (p.Leu321Pro) c.779T>C (p.Leu260Pro) c.854T>C (p.Leu285Pro) c.*33T>C (n.*33T>C) n.418T>C n.63T>C c.1088T>C (p.Leu363Pro) c.980T>C (p.Leu327Pro) c.839T>C (p.Leu280Pro) c.671T>C (p.Leu224Pro) c.*46T>C (n.*46T>C) n.981T>C c.617T>C (p.Leu206Pro) c.596T>C (p.Leu199Pro) c.473T>C (p.Leu158Pro) c.470T>C (p.Leu157Pro) n.1057T>C n.987T>C | gnomAD v3 gnomAD v4 |
| 19 | g.45677943T>G | CA406395091 | GIPR | c.962T>G (p.Leu321Arg) c.779T>G (p.Leu260Arg) c.854T>G (p.Leu285Arg) c.*33T>G (n.*33T>G) n.418T>G n.63T>G c.1088T>G (p.Leu363Arg) c.980T>G (p.Leu327Arg) c.839T>G (p.Leu280Arg) c.671T>G (p.Leu224Arg) c.*46T>G (n.*46T>G) n.981T>G c.617T>G (p.Leu206Arg) c.596T>G (p.Leu199Arg) c.473T>G (p.Leu158Arg) c.470T>G (p.Leu157Arg) n.1057T>G n.987T>G | |
| 19 | g.45677944C>A | CA507825108 | GIPR | c.963C>A (p.Leu321=) c.780C>A (p.Leu260=) c.855C>A (p.Leu285=) c.*34C>A (n.*34C>A) n.419C>A n.64C>A c.1089C>A (p.Leu363=) c.981C>A (p.Leu327=) c.840C>A (p.Leu280=) c.672C>A (p.Leu224=) c.*47C>A (n.*47C>A) n.982C>A c.618C>A (p.Leu206=) c.597C>A (p.Leu199=) c.474C>A (p.Leu158=) c.471C>A (p.Leu157=) n.1058C>A n.988C>A | |
| 19 | g.45677944C= | CA2338552123 | GIPR | c.963C= (p.Leu321=) c.780C= (p.Leu260=) c.855C= (p.Leu285=) c.*34C= (n.*34C=) n.419C= n.64C= c.1089C= (p.Leu363=) c.981C= (p.Leu327=) c.840C= (p.Leu280=) c.672C= (p.Leu224=) c.*47C= (n.*47C=) n.982C= c.618C= (p.Leu206=) c.597C= (p.Leu199=) c.474C= (p.Leu158=) c.471C= (p.Leu157=) n.1058C= n.988C= | |
| 19 | g.45677944C>G | CA507825107 | GIPR | c.963C>G (p.Leu321=) c.780C>G (p.Leu260=) c.855C>G (p.Leu285=) c.*34C>G (n.*34C>G) n.419C>G n.64C>G c.1089C>G (p.Leu363=) c.981C>G (p.Leu327=) c.840C>G (p.Leu280=) c.672C>G (p.Leu224=) c.*47C>G (n.*47C>G) n.982C>G c.618C>G (p.Leu206=) c.597C>G (p.Leu199=) c.474C>G (p.Leu158=) c.471C>G (p.Leu157=) n.1058C>G n.988C>G | |
| 19 | g.45677944C>T | CA9519160 | GIPR | c.963C>T (p.Leu321=) c.780C>T (p.Leu260=) c.855C>T (p.Leu285=) c.*34C>T (n.*34C>T) n.419C>T n.64C>T c.1089C>T (p.Leu363=) c.981C>T (p.Leu327=) c.840C>T (p.Leu280=) c.672C>T (p.Leu224=) c.*47C>T (n.*47C>T) n.982C>T c.618C>T (p.Leu206=) c.597C>T (p.Leu199=) c.474C>T (p.Leu158=) c.471C>T (p.Leu157=) n.1058C>T n.988C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.45677945C>A | CA406395098 | GIPR | c.964C>A (p.Leu322Met) c.781C>A (p.Leu261Met) c.856C>A (p.Leu286Met) c.*35C>A (n.*35C>A) n.420C>A n.65C>A c.1090C>A (p.Leu364Met) c.982C>A (p.Leu328Met) c.841C>A (p.Leu281Met) c.673C>A (p.Leu225Met) c.*48C>A (n.*48C>A) n.983C>A c.619C>A (p.Leu207Met) c.598C>A (p.Leu200Met) c.475C>A (p.Leu159Met) c.472C>A (p.Leu158Met) n.1059C>A n.989C>A | |
| 19 | g.45677945C= | CA2338552124 | GIPR | c.964C= (p.Leu322=) c.781C= (p.Leu261=) c.856C= (p.Leu286=) c.*35C= (n.*35C=) n.420C= n.65C= c.1090C= (p.Leu364=) c.982C= (p.Leu328=) c.841C= (p.Leu281=) c.673C= (p.Leu225=) c.*48C= (n.*48C=) n.983C= c.619C= (p.Leu207=) c.598C= (p.Leu200=) c.475C= (p.Leu159=) c.472C= (p.Leu158=) n.1059C= n.989C= | |
| 19 | g.45677945C>G | CA406395099 | GIPR | c.964C>G (p.Leu322Val) c.781C>G (p.Leu261Val) c.856C>G (p.Leu286Val) c.*35C>G (n.*35C>G) n.420C>G n.65C>G c.1090C>G (p.Leu364Val) c.982C>G (p.Leu328Val) c.841C>G (p.Leu281Val) c.673C>G (p.Leu225Val) c.*48C>G (n.*48C>G) n.983C>G c.619C>G (p.Leu207Val) c.598C>G (p.Leu200Val) c.475C>G (p.Leu159Val) c.472C>G (p.Leu158Val) n.1059C>G n.989C>G | |
| 19 | g.45677945C>T | CA507825109 | GIPR | c.964C>T (p.Leu322=) c.781C>T (p.Leu261=) c.856C>T (p.Leu286=) c.*35C>T (n.*35C>T) n.420C>T n.65C>T c.1090C>T (p.Leu364=) c.982C>T (p.Leu328=) c.841C>T (p.Leu281=) c.673C>T (p.Leu225=) c.*48C>T (n.*48C>T) n.983C>T c.619C>T (p.Leu207=) c.598C>T (p.Leu200=) c.475C>T (p.Leu159=) c.472C>T (p.Leu158=) n.1059C>T n.989C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45677946T>A | CA406395102 | GIPR | c.965T>A (p.Leu322Gln) c.782T>A (p.Leu261Gln) c.857T>A (p.Leu286Gln) c.*36T>A (n.*36T>A) n.421T>A n.66T>A c.1091T>A (p.Leu364Gln) c.983T>A (p.Leu328Gln) c.842T>A (p.Leu281Gln) c.674T>A (p.Leu225Gln) c.*49T>A (n.*49T>A) n.984T>A c.620T>A (p.Leu207Gln) c.599T>A (p.Leu200Gln) c.476T>A (p.Leu159Gln) c.473T>A (p.Leu158Gln) n.1060T>A n.990T>A | gnomAD v4 |
| 19 | g.45677946T>C | CA406395103 | GIPR | c.965T>C (p.Leu322Pro) c.782T>C (p.Leu261Pro) c.857T>C (p.Leu286Pro) c.*36T>C (n.*36T>C) n.421T>C n.66T>C c.1091T>C (p.Leu364Pro) c.983T>C (p.Leu328Pro) c.842T>C (p.Leu281Pro) c.674T>C (p.Leu225Pro) c.*49T>C (n.*49T>C) n.984T>C c.620T>C (p.Leu207Pro) c.599T>C (p.Leu200Pro) c.476T>C (p.Leu159Pro) c.473T>C (p.Leu158Pro) n.1060T>C n.990T>C | |
| 19 | g.45677946T>G | CA406395106 | GIPR | c.965T>G (p.Leu322Arg) c.782T>G (p.Leu261Arg) c.857T>G (p.Leu286Arg) c.*36T>G (n.*36T>G) n.421T>G n.66T>G c.1091T>G (p.Leu364Arg) c.983T>G (p.Leu328Arg) c.842T>G (p.Leu281Arg) c.674T>G (p.Leu225Arg) c.*49T>G (n.*49T>G) n.984T>G c.620T>G (p.Leu207Arg) c.599T>G (p.Leu200Arg) c.476T>G (p.Leu159Arg) c.473T>G (p.Leu158Arg) n.1060T>G n.990T>G | gnomAD v4 |
| 19 | g.45677946_45677952dup | CA882740108 | GIPR | c.965_971dup (p.Lys324AsnfsTer?) c.782_788dup (p.Lys263AsnfsTer?) c.857_863dup (p.Lys288AsnfsTer?) c.*36_*42dup (n.*36_*42dup) n.421_427dup n.66_72dup c.1091_1097dup (p.Lys366AsnfsTer?) c.983_989dup (p.Lys330AsnfsTer?) c.842_848dup (p.Lys283AsnfsTer?) c.674_680dup (p.Lys227AsnfsTer?) c.*49_*55dup (n.*49_*55dup) n.984_990dup c.620_626dup (p.Lys209AsnfsTer?) c.599_605dup (p.Lys202AsnfsTer?) c.476_482dup (p.Lys161AsnfsTer?) c.473_479dup (p.Lys160AsnfsTer?) n.1060_1066dup n.990_996dup | dbSNP |
| 19 | g.45677947G>A | CA507825110 | GIPR | c.966G>A (p.Leu322=) c.783G>A (p.Leu261=) c.858G>A (p.Leu286=) c.*37G>A (n.*37G>A) n.422G>A n.67G>A c.1092G>A (p.Leu364=) c.984G>A (p.Leu328=) c.843G>A (p.Leu281=) c.675G>A (p.Leu225=) c.*50G>A (n.*50G>A) n.985G>A c.621G>A (p.Leu207=) c.600G>A (p.Leu200=) c.477G>A (p.Leu159=) c.474G>A (p.Leu158=) n.1061G>A n.991G>A | |
| 19 | g.45677947G>C | CA507825112 | GIPR | c.966G>C (p.Leu322=) c.783G>C (p.Leu261=) c.858G>C (p.Leu286=) c.*37G>C (n.*37G>C) n.422G>C n.67G>C c.1092G>C (p.Leu364=) c.984G>C (p.Leu328=) c.843G>C (p.Leu281=) c.675G>C (p.Leu225=) c.*50G>C (n.*50G>C) n.985G>C c.621G>C (p.Leu207=) c.600G>C (p.Leu200=) c.477G>C (p.Leu159=) c.474G>C (p.Leu158=) n.1061G>C n.991G>C | |
| 19 | g.45677947G>T | CA507825111 | GIPR | c.966G>T (p.Leu322=) c.783G>T (p.Leu261=) c.858G>T (p.Leu286=) c.*37G>T (n.*37G>T) n.422G>T n.67G>T c.1092G>T (p.Leu364=) c.984G>T (p.Leu328=) c.843G>T (p.Leu281=) c.675G>T (p.Leu225=) c.*50G>T (n.*50G>T) n.985G>T c.621G>T (p.Leu207=) c.600G>T (p.Leu200=) c.477G>T (p.Leu159=) c.474G>T (p.Leu158=) n.1061G>T n.991G>T | gnomAD v4 |
| 19 | g.45677948T>A | CA406395109 | GIPR | c.967T>A (p.Ser323Thr) c.784T>A (p.Ser262Thr) c.859T>A (p.Ser287Thr) c.*38T>A (n.*38T>A) n.423T>A n.68T>A c.1093T>A (p.Ser365Thr) c.985T>A (p.Ser329Thr) c.844T>A (p.Ser282Thr) c.676T>A (p.Ser226Thr) c.*51T>A (n.*51T>A) n.986T>A c.622T>A (p.Ser208Thr) c.601T>A (p.Ser201Thr) c.478T>A (p.Ser160Thr) c.475T>A (p.Ser159Thr) n.1062T>A n.992T>A | |
| 19 | g.45677948T>C | CA406395108 | GIPR | c.967T>C (p.Ser323Pro) c.784T>C (p.Ser262Pro) c.859T>C (p.Ser287Pro) c.*38T>C (n.*38T>C) n.423T>C n.68T>C c.1093T>C (p.Ser365Pro) c.985T>C (p.Ser329Pro) c.844T>C (p.Ser282Pro) c.676T>C (p.Ser226Pro) c.*51T>C (n.*51T>C) n.986T>C c.622T>C (p.Ser208Pro) c.601T>C (p.Ser201Pro) c.478T>C (p.Ser160Pro) c.475T>C (p.Ser159Pro) n.1062T>C n.992T>C | |
| 19 | g.45677948T>G | CA9519161 | GIPR | c.967T>G (p.Ser323Ala) c.784T>G (p.Ser262Ala) c.859T>G (p.Ser287Ala) c.*38T>G (n.*38T>G) n.423T>G n.68T>G c.1093T>G (p.Ser365Ala) c.985T>G (p.Ser329Ala) c.844T>G (p.Ser282Ala) c.676T>G (p.Ser226Ala) c.*51T>G (n.*51T>G) n.986T>G c.622T>G (p.Ser208Ala) c.601T>G (p.Ser201Ala) c.478T>G (p.Ser160Ala) c.475T>G (p.Ser159Ala) n.1062T>G n.992T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.45677948T= | CA2338552125 | GIPR | c.967T= (p.Ser323=) c.784T= (p.Ser262=) c.859T= (p.Ser287=) c.*38T= (n.*38T=) n.423T= n.68T= c.1093T= (p.Ser365=) c.985T= (p.Ser329=) c.844T= (p.Ser282=) c.676T= (p.Ser226=) c.*51T= (n.*51T=) n.986T= c.622T= (p.Ser208=) c.601T= (p.Ser201=) c.478T= (p.Ser160=) c.475T= (p.Ser159=) n.1062T= n.992T= | |
| 19 | g.45677949C>A | CA406395112 | GIPR | c.968C>A (p.Ser323Tyr) c.785C>A (p.Ser262Tyr) c.860C>A (p.Ser287Tyr) c.*39C>A (n.*39C>A) n.424C>A n.69C>A c.1094C>A (p.Ser365Tyr) c.986C>A (p.Ser329Tyr) c.845C>A (p.Ser282Tyr) c.677C>A (p.Ser226Tyr) c.*52C>A (n.*52C>A) n.987C>A c.623C>A (p.Ser208Tyr) c.602C>A (p.Ser201Tyr) c.479C>A (p.Ser160Tyr) c.476C>A (p.Ser159Tyr) n.1063C>A n.993C>A | |
| 19 | g.45677949C>G | CA406395114 | GIPR | c.968C>G (p.Ser323Cys) c.785C>G (p.Ser262Cys) c.860C>G (p.Ser287Cys) c.*39C>G (n.*39C>G) n.424C>G n.69C>G c.1094C>G (p.Ser365Cys) c.986C>G (p.Ser329Cys) c.845C>G (p.Ser282Cys) c.677C>G (p.Ser226Cys) c.*52C>G (n.*52C>G) n.987C>G c.623C>G (p.Ser208Cys) c.602C>G (p.Ser201Cys) c.479C>G (p.Ser160Cys) c.476C>G (p.Ser159Cys) n.1063C>G n.993C>G | |
| 19 | g.45677949C>T | CA406395115 | GIPR | c.968C>T (p.Ser323Phe) c.785C>T (p.Ser262Phe) c.860C>T (p.Ser287Phe) c.*39C>T (n.*39C>T) n.424C>T n.69C>T c.1094C>T (p.Ser365Phe) c.986C>T (p.Ser329Phe) c.845C>T (p.Ser282Phe) c.677C>T (p.Ser226Phe) c.*52C>T (n.*52C>T) n.987C>T c.623C>T (p.Ser208Phe) c.602C>T (p.Ser201Phe) c.479C>T (p.Ser160Phe) c.476C>T (p.Ser159Phe) n.1063C>T n.993C>T | |
| 19 | g.45677950C>A | CA507825113 | GIPR | c.969C>A (p.Ser323=) c.786C>A (p.Ser262=) c.861C>A (p.Ser287=) c.*40C>A (n.*40C>A) n.425C>A n.70C>A c.1095C>A (p.Ser365=) c.987C>A (p.Ser329=) c.846C>A (p.Ser282=) c.678C>A (p.Ser226=) c.*53C>A (n.*53C>A) n.988C>A c.624C>A (p.Ser208=) c.603C>A (p.Ser201=) c.480C>A (p.Ser160=) c.477C>A (p.Ser159=) n.1064C>A n.994C>A | |
| 19 | g.45677950C>G | CA507825114 | GIPR | c.969C>G (p.Ser323=) c.786C>G (p.Ser262=) c.861C>G (p.Ser287=) c.*40C>G (n.*40C>G) n.425C>G n.70C>G c.1095C>G (p.Ser365=) c.987C>G (p.Ser329=) c.846C>G (p.Ser282=) c.678C>G (p.Ser226=) c.*53C>G (n.*53C>G) n.988C>G c.624C>G (p.Ser208=) c.603C>G (p.Ser201=) c.480C>G (p.Ser160=) c.477C>G (p.Ser159=) n.1064C>G n.994C>G | |
| 19 | g.45677950C>T | CA507825115 | GIPR | c.969C>T (p.Ser323=) c.786C>T (p.Ser262=) c.861C>T (p.Ser287=) c.*40C>T (n.*40C>T) n.425C>T n.70C>T c.1095C>T (p.Ser365=) c.987C>T (p.Ser329=) c.846C>T (p.Ser282=) c.678C>T (p.Ser226=) c.*53C>T (n.*53C>T) n.988C>T c.624C>T (p.Ser208=) c.603C>T (p.Ser201=) c.480C>T (p.Ser160=) c.477C>T (p.Ser159=) n.1064C>T n.994C>T | gnomAD v4 |
| 19 | g.45677951A>C | CA406395117 | GIPR | c.970A>C (p.Lys324Gln) c.787A>C (p.Lys263Gln) c.862A>C (p.Lys288Gln) c.*41A>C (n.*41A>C) n.426A>C n.71A>C c.1096A>C (p.Lys366Gln) c.988A>C (p.Lys330Gln) c.847A>C (p.Lys283Gln) c.679A>C (p.Lys227Gln) c.*54A>C (n.*54A>C) n.989A>C c.625A>C (p.Lys209Gln) c.604A>C (p.Lys202Gln) c.481A>C (p.Lys161Gln) c.478A>C (p.Lys160Gln) n.1065A>C n.995A>C | |
| 19 | g.45677951A>G | CA406395119 | GIPR | c.970A>G (p.Lys324Glu) c.787A>G (p.Lys263Glu) c.862A>G (p.Lys288Glu) c.*41A>G (n.*41A>G) n.426A>G n.71A>G c.1096A>G (p.Lys366Glu) c.988A>G (p.Lys330Glu) c.847A>G (p.Lys283Glu) c.679A>G (p.Lys227Glu) c.*54A>G (n.*54A>G) n.989A>G c.625A>G (p.Lys209Glu) c.604A>G (p.Lys202Glu) c.481A>G (p.Lys161Glu) c.478A>G (p.Lys160Glu) n.1065A>G n.995A>G | |
| 19 | g.45677951A>T | CA406395121 | GIPR | c.970A>T (p.Lys324Ter) c.787A>T (p.Lys263Ter) c.862A>T (p.Lys288Ter) c.*41A>T (n.*41A>T) n.426A>T n.71A>T c.1096A>T (p.Lys366Ter) c.988A>T (p.Lys330Ter) c.847A>T (p.Lys283Ter) c.679A>T (p.Lys227Ter) c.*54A>T (n.*54A>T) n.989A>T c.625A>T (p.Lys209Ter) c.604A>T (p.Lys202Ter) c.481A>T (p.Lys161Ter) c.478A>T (p.Lys160Ter) n.1065A>T n.995A>T |