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.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.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 | |
| 19 | g.45677957A>C | CA507825119 | GIPR | c.976A>C (p.Arg326=) c.793A>C (p.Arg265=) c.868A>C (p.Arg290=) c.*47A>C (n.*47A>C) n.432A>C n.77A>C c.1102A>C (p.Arg368=) c.994A>C (p.Arg332=) c.853A>C (p.Arg285=) c.685A>C (p.Arg229=) c.*60A>C (n.*60A>C) n.995A>C c.631A>C (p.Arg211=) c.610A>C (p.Arg204=) c.487A>C (p.Arg163=) c.484A>C (p.Arg162=) n.1071A>C n.1001A>C | |
| 19 | g.45677957A>G | CA406395139 | GIPR | c.976A>G (p.Arg326Gly) c.793A>G (p.Arg265Gly) c.868A>G (p.Arg290Gly) c.*47A>G (n.*47A>G) n.432A>G n.77A>G c.1102A>G (p.Arg368Gly) c.994A>G (p.Arg332Gly) c.853A>G (p.Arg285Gly) c.685A>G (p.Arg229Gly) c.*60A>G (n.*60A>G) n.995A>G c.631A>G (p.Arg211Gly) c.610A>G (p.Arg204Gly) c.487A>G (p.Arg163Gly) c.484A>G (p.Arg162Gly) n.1071A>G n.1001A>G | |
| 19 | g.45677957A>T | CA406395140 | GIPR | c.976A>T (p.Arg326Trp) c.793A>T (p.Arg265Trp) c.868A>T (p.Arg290Trp) c.*47A>T (n.*47A>T) n.432A>T n.77A>T c.1102A>T (p.Arg368Trp) c.994A>T (p.Arg332Trp) c.853A>T (p.Arg285Trp) c.685A>T (p.Arg229Trp) c.*60A>T (n.*60A>T) n.995A>T c.631A>T (p.Arg211Trp) c.610A>T (p.Arg204Trp) c.487A>T (p.Arg163Trp) c.484A>T (p.Arg162Trp) n.1071A>T n.1001A>T | |
| 19 | g.45677958G>A | CA406395145 | GIPR | c.977G>A (p.Arg326Lys) c.794G>A (p.Arg265Lys) c.869G>A (p.Arg290Lys) c.*48G>A (n.*48G>A) n.433G>A n.78G>A c.1103G>A (p.Arg368Lys) c.995G>A (p.Arg332Lys) c.854G>A (p.Arg285Lys) c.686G>A (p.Arg229Lys) c.*61G>A (n.*61G>A) n.996G>A c.632G>A (p.Arg211Lys) c.611G>A (p.Arg204Lys) c.488G>A (p.Arg163Lys) c.485G>A (p.Arg162Lys) n.1072G>A n.1002G>A | dbSNP gnomAD v4 |
| 19 | g.45677958G>C | CA9519164 | GIPR | c.977G>C (p.Arg326Thr) c.794G>C (p.Arg265Thr) c.869G>C (p.Arg290Thr) c.*48G>C (n.*48G>C) n.433G>C n.78G>C c.1103G>C (p.Arg368Thr) c.995G>C (p.Arg332Thr) c.854G>C (p.Arg285Thr) c.686G>C (p.Arg229Thr) c.*61G>C (n.*61G>C) n.996G>C c.632G>C (p.Arg211Thr) c.611G>C (p.Arg204Thr) c.488G>C (p.Arg163Thr) c.485G>C (p.Arg162Thr) n.1072G>C n.1002G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.45677958G= | CA2338552129 | GIPR | c.977G= (p.Arg326=) c.794G= (p.Arg265=) c.869G= (p.Arg290=) c.*48G= (n.*48G=) n.433G= n.78G= c.1103G= (p.Arg368=) c.995G= (p.Arg332=) c.854G= (p.Arg285=) c.686G= (p.Arg229=) c.*61G= (n.*61G=) n.996G= c.632G= (p.Arg211=) c.611G= (p.Arg204=) c.488G= (p.Arg163=) c.485G= (p.Arg162=) n.1072G= n.1002G= | |
| 19 | g.45677958G>T | CA406395143 | GIPR | c.977G>T (p.Arg326Met) c.794G>T (p.Arg265Met) c.869G>T (p.Arg290Met) c.*48G>T (n.*48G>T) n.433G>T n.78G>T c.1103G>T (p.Arg368Met) c.995G>T (p.Arg332Met) c.854G>T (p.Arg285Met) c.686G>T (p.Arg229Met) c.*61G>T (n.*61G>T) n.996G>T c.632G>T (p.Arg211Met) c.611G>T (p.Arg204Met) c.488G>T (p.Arg163Met) c.485G>T (p.Arg162Met) n.1072G>T n.1002G>T | |
| 19 | g.45677959G>A | CA507825120 | GIPR | c.978G>A (p.Arg326=) c.795G>A (p.Arg265=) c.870G>A (p.Arg290=) c.*49G>A (n.*49G>A) n.434G>A n.79G>A c.1104G>A (p.Arg368=) c.996G>A (p.Arg332=) c.855G>A (p.Arg285=) c.687G>A (p.Arg229=) c.*62G>A (n.*62G>A) n.997G>A c.633G>A (p.Arg211=) c.612G>A (p.Arg204=) c.489G>A (p.Arg163=) c.486G>A (p.Arg162=) n.1073G>A n.1003G>A | dbSNP |
| 19 | g.45677959G>C | CA406395149 | GIPR | c.978G>C (p.Arg326Ser) c.795G>C (p.Arg265Ser) c.870G>C (p.Arg290Ser) c.*49G>C (n.*49G>C) n.434G>C n.79G>C c.1104G>C (p.Arg368Ser) c.996G>C (p.Arg332Ser) c.855G>C (p.Arg285Ser) c.687G>C (p.Arg229Ser) c.*62G>C (n.*62G>C) n.997G>C c.633G>C (p.Arg211Ser) c.612G>C (p.Arg204Ser) c.489G>C (p.Arg163Ser) c.486G>C (p.Arg162Ser) n.1073G>C n.1003G>C | |
| 19 | g.45677959G= | CA2338552130 | GIPR | c.978G= (p.Arg326=) c.795G= (p.Arg265=) c.870G= (p.Arg290=) c.*49G= (n.*49G=) n.434G= n.79G= c.1104G= (p.Arg368=) c.996G= (p.Arg332=) c.855G= (p.Arg285=) c.687G= (p.Arg229=) c.*62G= (n.*62G=) n.997G= c.633G= (p.Arg211=) c.612G= (p.Arg204=) c.489G= (p.Arg163=) c.486G= (p.Arg162=) n.1073G= n.1003G= | |
| 19 | g.45677959G>T | CA406395147 | GIPR | c.978G>T (p.Arg326Ser) c.795G>T (p.Arg265Ser) c.870G>T (p.Arg290Ser) c.*49G>T (n.*49G>T) n.434G>T n.79G>T c.1104G>T (p.Arg368Ser) c.996G>T (p.Arg332Ser) c.855G>T (p.Arg285Ser) c.687G>T (p.Arg229Ser) c.*62G>T (n.*62G>T) n.997G>T c.633G>T (p.Arg211Ser) c.612G>T (p.Arg204Ser) c.489G>T (p.Arg163Ser) c.486G>T (p.Arg162Ser) n.1073G>T n.1003G>T | |
| 19 | g.45677960A= | CA2338552131 | GIPR | c.979A= (p.Thr327=) c.796A= (p.Thr266=) c.871A= (p.Thr291=) c.*50A= (n.*50A=) n.435A= n.80A= c.1105A= (p.Thr369=) c.997A= (p.Thr333=) c.856A= (p.Thr286=) c.688A= (p.Thr230=) c.*63A= (n.*63A=) n.998A= c.634A= (p.Thr212=) c.613A= (p.Thr205=) c.490A= (p.Thr164=) c.487A= (p.Thr163=) n.1074A= n.1004A= | |
| 19 | g.45677960A>C | CA406395151 | GIPR | c.979A>C (p.Thr327Pro) c.796A>C (p.Thr266Pro) c.871A>C (p.Thr291Pro) c.*50A>C (n.*50A>C) n.435A>C n.80A>C c.1105A>C (p.Thr369Pro) c.997A>C (p.Thr333Pro) c.856A>C (p.Thr286Pro) c.688A>C (p.Thr230Pro) c.*63A>C (n.*63A>C) n.998A>C c.634A>C (p.Thr212Pro) c.613A>C (p.Thr205Pro) c.490A>C (p.Thr164Pro) c.487A>C (p.Thr163Pro) n.1074A>C n.1004A>C | |
| 19 | g.45677960A>G | CA406395152 | GIPR | c.979A>G (p.Thr327Ala) c.796A>G (p.Thr266Ala) c.871A>G (p.Thr291Ala) c.*50A>G (n.*50A>G) n.435A>G n.80A>G c.1105A>G (p.Thr369Ala) c.997A>G (p.Thr333Ala) c.856A>G (p.Thr286Ala) c.688A>G (p.Thr230Ala) c.*63A>G (n.*63A>G) n.998A>G c.634A>G (p.Thr212Ala) c.613A>G (p.Thr205Ala) c.490A>G (p.Thr164Ala) c.487A>G (p.Thr163Ala) n.1074A>G n.1004A>G | dbSNP |
| 19 | g.45677960A>T | CA406395154 | GIPR | c.979A>T (p.Thr327Ser) c.796A>T (p.Thr266Ser) c.871A>T (p.Thr291Ser) c.*50A>T (n.*50A>T) n.435A>T n.80A>T c.1105A>T (p.Thr369Ser) c.997A>T (p.Thr333Ser) c.856A>T (p.Thr286Ser) c.688A>T (p.Thr230Ser) c.*63A>T (n.*63A>T) n.998A>T c.634A>T (p.Thr212Ser) c.613A>T (p.Thr205Ser) c.490A>T (p.Thr164Ser) c.487A>T (p.Thr163Ser) n.1074A>T n.1004A>T | |
| 19 | g.45677961C>A | CA406395156 | GIPR | c.980C>A (p.Thr327Lys) c.797C>A (p.Thr266Lys) c.872C>A (p.Thr291Lys) c.*51C>A (n.*51C>A) n.436C>A n.81C>A c.1106C>A (p.Thr369Lys) c.998C>A (p.Thr333Lys) c.857C>A (p.Thr286Lys) c.689C>A (p.Thr230Lys) c.*64C>A (n.*64C>A) n.999C>A c.635C>A (p.Thr212Lys) c.614C>A (p.Thr205Lys) c.491C>A (p.Thr164Lys) c.488C>A (p.Thr163Lys) n.1075C>A n.1005C>A | |
| 19 | g.45677961C>G | CA406395158 | GIPR | c.980C>G (p.Thr327Arg) c.797C>G (p.Thr266Arg) c.872C>G (p.Thr291Arg) c.*51C>G (n.*51C>G) n.436C>G n.81C>G c.1106C>G (p.Thr369Arg) c.998C>G (p.Thr333Arg) c.857C>G (p.Thr286Arg) c.689C>G (p.Thr230Arg) c.*64C>G (n.*64C>G) n.999C>G c.635C>G (p.Thr212Arg) c.614C>G (p.Thr205Arg) c.491C>G (p.Thr164Arg) c.488C>G (p.Thr163Arg) n.1075C>G n.1005C>G | gnomAD v4 |
| 19 | g.45677961C>T | CA406395160 | GIPR | c.980C>T (p.Thr327Ile) c.797C>T (p.Thr266Ile) c.872C>T (p.Thr291Ile) c.*51C>T (n.*51C>T) n.436C>T n.81C>T c.1106C>T (p.Thr369Ile) c.998C>T (p.Thr333Ile) c.857C>T (p.Thr286Ile) c.689C>T (p.Thr230Ile) c.*64C>T (n.*64C>T) n.999C>T c.635C>T (p.Thr212Ile) c.614C>T (p.Thr205Ile) c.491C>T (p.Thr164Ile) c.488C>T (p.Thr163Ile) n.1075C>T n.1005C>T |