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.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 | |
| 19 | g.45677952A>C | CA406395123 | GIPR | c.971A>C (p.Lys324Thr) c.788A>C (p.Lys263Thr) c.863A>C (p.Lys288Thr) c.*42A>C (n.*42A>C) n.427A>C n.72A>C c.1097A>C (p.Lys366Thr) c.989A>C (p.Lys330Thr) c.848A>C (p.Lys283Thr) c.680A>C (p.Lys227Thr) c.*55A>C (n.*55A>C) n.990A>C c.626A>C (p.Lys209Thr) c.605A>C (p.Lys202Thr) c.482A>C (p.Lys161Thr) c.479A>C (p.Lys160Thr) n.1066A>C n.996A>C | |
| 19 | g.45677952A>G | CA406395126 | GIPR | c.971A>G (p.Lys324Arg) c.788A>G (p.Lys263Arg) c.863A>G (p.Lys288Arg) c.*42A>G (n.*42A>G) n.427A>G n.72A>G c.1097A>G (p.Lys366Arg) c.989A>G (p.Lys330Arg) c.848A>G (p.Lys283Arg) c.680A>G (p.Lys227Arg) c.*55A>G (n.*55A>G) n.990A>G c.626A>G (p.Lys209Arg) c.605A>G (p.Lys202Arg) c.482A>G (p.Lys161Arg) c.479A>G (p.Lys160Arg) n.1066A>G n.996A>G | |
| 19 | g.45677952A>T | CA406395125 | GIPR | c.971A>T (p.Lys324Met) c.788A>T (p.Lys263Met) c.863A>T (p.Lys288Met) c.*42A>T (n.*42A>T) n.427A>T n.72A>T c.1097A>T (p.Lys366Met) c.989A>T (p.Lys330Met) c.848A>T (p.Lys283Met) c.680A>T (p.Lys227Met) c.*55A>T (n.*55A>T) n.990A>T c.626A>T (p.Lys209Met) c.605A>T (p.Lys202Met) c.482A>T (p.Lys161Met) c.479A>T (p.Lys160Met) n.1066A>T n.996A>T | |
| 19 | g.45677953G>A | CA9519162 | GIPR | c.972G>A (p.Lys324=) c.789G>A (p.Lys263=) c.864G>A (p.Lys288=) c.*43G>A (n.*43G>A) n.428G>A n.73G>A c.1098G>A (p.Lys366=) c.990G>A (p.Lys330=) c.849G>A (p.Lys283=) c.681G>A (p.Lys227=) c.*56G>A (n.*56G>A) n.991G>A c.627G>A (p.Lys209=) c.606G>A (p.Lys202=) c.483G>A (p.Lys161=) c.480G>A (p.Lys160=) n.1067G>A n.997G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45677953G>C | CA406395128 | GIPR | c.972G>C (p.Lys324Asn) c.789G>C (p.Lys263Asn) c.864G>C (p.Lys288Asn) c.*43G>C (n.*43G>C) n.428G>C n.73G>C c.1098G>C (p.Lys366Asn) c.990G>C (p.Lys330Asn) c.849G>C (p.Lys283Asn) c.681G>C (p.Lys227Asn) c.*56G>C (n.*56G>C) n.991G>C c.627G>C (p.Lys209Asn) c.606G>C (p.Lys202Asn) c.483G>C (p.Lys161Asn) c.480G>C (p.Lys160Asn) n.1067G>C n.997G>C | |
| 19 | g.45677953G= | CA2338552126 | GIPR | c.972G= (p.Lys324=) c.789G= (p.Lys263=) c.864G= (p.Lys288=) c.*43G= (n.*43G=) n.428G= n.73G= c.1098G= (p.Lys366=) c.990G= (p.Lys330=) c.849G= (p.Lys283=) c.681G= (p.Lys227=) c.*56G= (n.*56G=) n.991G= c.627G= (p.Lys209=) c.606G= (p.Lys202=) c.483G= (p.Lys161=) c.480G= (p.Lys160=) n.1067G= n.997G= | |
| 19 | g.45677953G>T | CA406395129 | GIPR | c.972G>T (p.Lys324Asn) c.789G>T (p.Lys263Asn) c.864G>T (p.Lys288Asn) c.*43G>T (n.*43G>T) n.428G>T n.73G>T c.1098G>T (p.Lys366Asn) c.990G>T (p.Lys330Asn) c.849G>T (p.Lys283Asn) c.681G>T (p.Lys227Asn) c.*56G>T (n.*56G>T) n.991G>T c.627G>T (p.Lys209Asn) c.606G>T (p.Lys202Asn) c.483G>T (p.Lys161Asn) c.480G>T (p.Lys160Asn) n.1067G>T n.997G>T | |
| 19 | g.45677954C>A | CA406395130 | GIPR | c.973C>A (p.Leu325Met) c.790C>A (p.Leu264Met) c.865C>A (p.Leu289Met) c.*44C>A (n.*44C>A) n.429C>A n.74C>A c.1099C>A (p.Leu367Met) c.991C>A (p.Leu331Met) c.850C>A (p.Leu284Met) c.682C>A (p.Leu228Met) c.*57C>A (n.*57C>A) n.992C>A c.628C>A (p.Leu210Met) c.607C>A (p.Leu203Met) c.484C>A (p.Leu162Met) c.481C>A (p.Leu161Met) n.1068C>A n.998C>A | gnomAD v4 COSMIC COSMIC |
| 19 | g.45677954C= | CA2338552127 | GIPR | c.973C= (p.Leu325=) c.790C= (p.Leu264=) c.865C= (p.Leu289=) c.*44C= (n.*44C=) n.429C= n.74C= c.1099C= (p.Leu367=) c.991C= (p.Leu331=) c.850C= (p.Leu284=) c.682C= (p.Leu228=) c.*57C= (n.*57C=) n.992C= c.628C= (p.Leu210=) c.607C= (p.Leu203=) c.484C= (p.Leu162=) c.481C= (p.Leu161=) n.1068C= n.998C= | |
| 19 | g.45677954C>G | CA406395132 | GIPR | c.973C>G (p.Leu325Val) c.790C>G (p.Leu264Val) c.865C>G (p.Leu289Val) c.*44C>G (n.*44C>G) n.429C>G n.74C>G c.1099C>G (p.Leu367Val) c.991C>G (p.Leu331Val) c.850C>G (p.Leu284Val) c.682C>G (p.Leu228Val) c.*57C>G (n.*57C>G) n.992C>G c.628C>G (p.Leu210Val) c.607C>G (p.Leu203Val) c.484C>G (p.Leu162Val) c.481C>G (p.Leu161Val) n.1068C>G n.998C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45677954C>T | CA9519163 | GIPR | c.973C>T (p.Leu325=) c.790C>T (p.Leu264=) c.865C>T (p.Leu289=) c.*44C>T (n.*44C>T) n.429C>T n.74C>T c.1099C>T (p.Leu367=) c.991C>T (p.Leu331=) c.850C>T (p.Leu284=) c.682C>T (p.Leu228=) c.*57C>T (n.*57C>T) n.992C>T c.628C>T (p.Leu210=) c.607C>T (p.Leu203=) c.484C>T (p.Leu162=) c.481C>T (p.Leu161=) n.1068C>T n.998C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.45677955T>A | CA406395135 | GIPR | c.974T>A (p.Leu325Gln) c.791T>A (p.Leu264Gln) c.866T>A (p.Leu289Gln) c.*45T>A (n.*45T>A) n.430T>A n.75T>A c.1100T>A (p.Leu367Gln) c.992T>A (p.Leu331Gln) c.851T>A (p.Leu284Gln) c.683T>A (p.Leu228Gln) c.*58T>A (n.*58T>A) n.993T>A c.629T>A (p.Leu210Gln) c.608T>A (p.Leu203Gln) c.485T>A (p.Leu162Gln) c.482T>A (p.Leu161Gln) n.1069T>A n.999T>A | |
| 19 | g.45677955T>C | CA406395136 | GIPR | c.974T>C (p.Leu325Pro) c.791T>C (p.Leu264Pro) c.866T>C (p.Leu289Pro) c.*45T>C (n.*45T>C) n.430T>C n.75T>C c.1100T>C (p.Leu367Pro) c.992T>C (p.Leu331Pro) c.851T>C (p.Leu284Pro) c.683T>C (p.Leu228Pro) c.*58T>C (n.*58T>C) n.993T>C c.629T>C (p.Leu210Pro) c.608T>C (p.Leu203Pro) c.485T>C (p.Leu162Pro) c.482T>C (p.Leu161Pro) n.1069T>C n.999T>C | gnomAD v4 |
| 19 | g.45677955T>G | CA406395137 | GIPR | c.974T>G (p.Leu325Arg) c.791T>G (p.Leu264Arg) c.866T>G (p.Leu289Arg) c.*45T>G (n.*45T>G) n.430T>G n.75T>G c.1100T>G (p.Leu367Arg) c.992T>G (p.Leu331Arg) c.851T>G (p.Leu284Arg) c.683T>G (p.Leu228Arg) c.*58T>G (n.*58T>G) n.993T>G c.629T>G (p.Leu210Arg) c.608T>G (p.Leu203Arg) c.485T>G (p.Leu162Arg) c.482T>G (p.Leu161Arg) n.1069T>G n.999T>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45677955T= | CA2338552128 | GIPR | c.974T= (p.Leu325=) c.791T= (p.Leu264=) c.866T= (p.Leu289=) c.*45T= (n.*45T=) n.430T= n.75T= c.1100T= (p.Leu367=) c.992T= (p.Leu331=) c.851T= (p.Leu284=) c.683T= (p.Leu228=) c.*58T= (n.*58T=) n.993T= c.629T= (p.Leu210=) c.608T= (p.Leu203=) c.485T= (p.Leu162=) c.482T= (p.Leu161=) n.1069T= n.999T= | |
| 19 | g.45677956G>A | CA507825116 | GIPR | c.975G>A (p.Leu325=) c.792G>A (p.Leu264=) c.867G>A (p.Leu289=) c.*46G>A (n.*46G>A) n.431G>A n.76G>A c.1101G>A (p.Leu367=) c.993G>A (p.Leu331=) c.852G>A (p.Leu284=) c.684G>A (p.Leu228=) c.*59G>A (n.*59G>A) n.994G>A c.630G>A (p.Leu210=) c.609G>A (p.Leu203=) c.486G>A (p.Leu162=) c.483G>A (p.Leu161=) n.1070G>A n.1000G>A | |
| 19 | g.45677956G>C | CA507825117 | GIPR | c.975G>C (p.Leu325=) c.792G>C (p.Leu264=) c.867G>C (p.Leu289=) c.*46G>C (n.*46G>C) n.431G>C n.76G>C c.1101G>C (p.Leu367=) c.993G>C (p.Leu331=) c.852G>C (p.Leu284=) c.684G>C (p.Leu228=) c.*59G>C (n.*59G>C) n.994G>C c.630G>C (p.Leu210=) c.609G>C (p.Leu203=) c.486G>C (p.Leu162=) c.483G>C (p.Leu161=) n.1070G>C n.1000G>C | COSMIC COSMIC |
| 19 | g.45677956G>T | CA507825118 | GIPR | c.975G>T (p.Leu325=) c.792G>T (p.Leu264=) c.867G>T (p.Leu289=) c.*46G>T (n.*46G>T) n.431G>T n.76G>T c.1101G>T (p.Leu367=) c.993G>T (p.Leu331=) c.852G>T (p.Leu284=) c.684G>T (p.Leu228=) c.*59G>T (n.*59G>T) n.994G>T c.630G>T (p.Leu210=) c.609G>T (p.Leu203=) c.486G>T (p.Leu162=) c.483G>T (p.Leu161=) n.1070G>T n.1000G>T |