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 |
|---|---|---|---|---|---|
| 11 | g.71437807_71437809del | CA2614858229 | DHCR7 | c.963+7_963+9del (n.963+7_963+9del) c.789+7_789+9del (n.789+7_789+9del) c.1014+7_1014+9del (n.1014+7_1014+9del) c.970_972del (p.Arg324del) c.999+7_999+9del (n.999+7_999+9del) c.970_971+1del n.1003+7_1003+9del c.378+7_378+9del (n.378+7_378+9del) c.867+7_867+9del (n.867+7_867+9del) c.330+7_330+9del (n.330+7_330+9del) c.213+7_213+9del (n.213+7_213+9del) c.319+7_319+9del | gnomAD v4 |
| 11 | g.71437810A= | CA1981487998 | DHCR7 | c.963+2T= (n.963+2T=) c.789+2T= (n.789+2T=) c.1014+2T= (n.1014+2T=) c.965T= (p.Val322=) c.999+2T= (n.999+2T=) n.1003+2T= c.378+2T= (n.378+2T=) c.867+2T= (n.867+2T=) c.330+2T= (n.330+2T=) c.213+2T= (n.213+2T=) c.319+2T= | |
| 11 | g.71437810A>C | CA16041550 | DHCR7 | c.963+2T>G (n.963+2T>G) c.789+2T>G (n.789+2T>G) c.1014+2T>G (n.1014+2T>G) c.965T>G (p.Val322Gly) c.999+2T>G (n.999+2T>G) n.1003+2T>G c.378+2T>G (n.378+2T>G) c.867+2T>G (n.867+2T>G) c.330+2T>G (n.330+2T>G) c.213+2T>G (n.213+2T>G) c.319+2T>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.71437810A>G | CA381702871 | DHCR7 | c.963+2T>C (n.963+2T>C) c.789+2T>C (n.789+2T>C) c.1014+2T>C (n.1014+2T>C) c.965T>C (p.Val322Ala) c.999+2T>C (n.999+2T>C) n.1003+2T>C c.378+2T>C (n.378+2T>C) c.867+2T>C (n.867+2T>C) c.330+2T>C (n.330+2T>C) c.213+2T>C (n.213+2T>C) c.319+2T>C | |
| 11 | g.71437810A>T | CA381702872 | DHCR7 | c.963+2T>A (n.963+2T>A) c.789+2T>A (n.789+2T>A) c.1014+2T>A (n.1014+2T>A) c.965T>A (p.Val322Glu) c.999+2T>A (n.999+2T>A) n.1003+2T>A c.378+2T>A (n.378+2T>A) c.867+2T>A (n.867+2T>A) c.330+2T>A (n.330+2T>A) c.213+2T>A (n.213+2T>A) c.319+2T>A | |
| 11 | g.71437811C>A | CA16041551 | DHCR7 | c.963+1G>T (n.963+1G>T) c.789+1G>T (n.789+1G>T) c.1014+1G>T (n.1014+1G>T) c.964G>T (p.Val322Leu) c.999+1G>T (n.999+1G>T) n.1003+1G>T c.378+1G>T (n.378+1G>T) c.867+1G>T (n.867+1G>T) c.330+1G>T (n.330+1G>T) c.213+1G>T (n.213+1G>T) c.319+1G>T | ClinVar dbSNP |
| 11 | g.71437811C= | CA1981487999 | DHCR7 | c.963+1G= (n.963+1G=) c.789+1G= (n.789+1G=) c.1014+1G= (n.1014+1G=) c.964G= (p.Val322=) c.999+1G= (n.999+1G=) n.1003+1G= c.378+1G= (n.378+1G=) c.867+1G= (n.867+1G=) c.330+1G= (n.330+1G=) c.213+1G= (n.213+1G=) c.319+1G= | |
| 11 | g.71437811C>G | CA381702873 | DHCR7 | c.963+1G>C (n.963+1G>C) c.789+1G>C (n.789+1G>C) c.1014+1G>C (n.1014+1G>C) c.964G>C (p.Val322Leu) c.999+1G>C (n.999+1G>C) n.1003+1G>C c.378+1G>C (n.378+1G>C) c.867+1G>C (n.867+1G>C) c.330+1G>C (n.330+1G>C) c.213+1G>C (n.213+1G>C) c.319+1G>C | |
| 11 | g.71437811C>T | CA381702874 | DHCR7 | c.963+1G>A (n.963+1G>A) c.789+1G>A (n.789+1G>A) c.1014+1G>A (n.1014+1G>A) c.964G>A (p.Val322Met) c.999+1G>A (n.999+1G>A) n.1003+1G>A c.378+1G>A (n.378+1G>A) c.867+1G>A (n.867+1G>A) c.330+1G>A (n.330+1G>A) c.213+1G>A (n.213+1G>A) c.319+1G>A | dbSNP gnomAD v4 |
| 11 | g.71437812C>A | CA381702875 | DHCR7 | c.963G>T (p.Gln321His) c.789G>T (p.Gln263His) c.1014G>T (p.Gln338His) c.999G>T (p.Gln333His) n.1003G>T c.378G>T (p.Gln126His) c.867G>T (p.Gln289His) c.330G>T (p.Gln110His) c.213G>T (p.Gln71His) c.319G>T | |
| 11 | g.71437812C>G | CA381702876 | DHCR7 | c.963G>C (p.Gln321His) c.789G>C (p.Gln263His) c.1014G>C (p.Gln338His) c.999G>C (p.Gln333His) n.1003G>C c.378G>C (p.Gln126His) c.867G>C (p.Gln289His) c.330G>C (p.Gln110His) c.213G>C (p.Gln71His) c.319G>C | |
| 11 | g.71437812C>T | CA475567072 | DHCR7 | c.963G>A (p.Gln321=) c.789G>A (p.Gln263=) c.1014G>A (p.Gln338=) c.999G>A (p.Gln333=) n.1003G>A c.378G>A (p.Gln126=) c.867G>A (p.Gln289=) c.330G>A (p.Gln110=) c.213G>A (p.Gln71=) c.319G>A | |
| 11 | g.71437813T>A | CA381702877 | DHCR7 | c.962A>T (p.Gln321Leu) c.788A>T (p.Gln263Leu) c.1013A>T (p.Gln338Leu) c.998A>T (p.Gln333Leu) n.1002A>T c.377A>T (p.Gln126Leu) c.866A>T (p.Gln289Leu) c.329A>T (p.Gln110Leu) c.212A>T (p.Gln71Leu) c.318A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71437813T>C | CA381702879 | DHCR7 | c.962A>G (p.Gln321Arg) c.788A>G (p.Gln263Arg) c.1013A>G (p.Gln338Arg) c.998A>G (p.Gln333Arg) n.1002A>G c.377A>G (p.Gln126Arg) c.866A>G (p.Gln289Arg) c.329A>G (p.Gln110Arg) c.212A>G (p.Gln71Arg) c.318A>G | gnomAD v4 |
| 11 | g.71437813T>G | CA381702878 | DHCR7 | c.962A>C (p.Gln321Pro) c.788A>C (p.Gln263Pro) c.1013A>C (p.Gln338Pro) c.998A>C (p.Gln333Pro) n.1002A>C c.377A>C (p.Gln126Pro) c.866A>C (p.Gln289Pro) c.329A>C (p.Gln110Pro) c.212A>C (p.Gln71Pro) c.318A>C | |
| 11 | g.71437813T= | CA1981488000 | DHCR7 | c.962A= (p.Gln321=) c.788A= (p.Gln263=) c.1013A= (p.Gln338=) c.998A= (p.Gln333=) n.1002A= c.377A= (p.Gln126=) c.866A= (p.Gln289=) c.329A= (p.Gln110=) c.212A= (p.Gln71=) c.318A= | |
| 11 | g.71437814G>A | CA381702880 | DHCR7 | c.961C>T (p.Gln321Ter) c.787C>T (p.Gln263Ter) c.1012C>T (p.Gln338Ter) c.997C>T (p.Gln333Ter) n.1001C>T c.376C>T (p.Gln126Ter) c.865C>T (p.Gln289Ter) c.328C>T (p.Gln110Ter) c.211C>T (p.Gln71Ter) c.317C>T | |
| 11 | g.71437814G>C | CA381702881 | DHCR7 | c.961C>G (p.Gln321Glu) c.787C>G (p.Gln263Glu) c.1012C>G (p.Gln338Glu) c.997C>G (p.Gln333Glu) n.1001C>G c.376C>G (p.Gln126Glu) c.865C>G (p.Gln289Glu) c.328C>G (p.Gln110Glu) c.211C>G (p.Gln71Glu) c.317C>G | |
| 11 | g.71437814G>T | CA381702882 | DHCR7 | c.961C>A (p.Gln321Lys) c.787C>A (p.Gln263Lys) c.1012C>A (p.Gln338Lys) c.997C>A (p.Gln333Lys) n.1001C>A c.376C>A (p.Gln126Lys) c.865C>A (p.Gln289Lys) c.328C>A (p.Gln110Lys) c.211C>A (p.Gln71Lys) c.317C>A | |
| 11 | g.71437815C>A | CA475567092 | DHCR7 | c.960G>T (p.Leu320=) c.786G>T (p.Leu262=) c.1011G>T (p.Leu337=) c.996G>T (p.Leu332=) n.1000G>T c.375G>T (p.Leu125=) c.864G>T (p.Leu288=) c.327G>T (p.Leu109=) c.210G>T (p.Leu70=) c.316G>T | ClinVar dbSNP |
| 11 | g.71437815C>G | CA475567097 | DHCR7 | c.960G>C (p.Leu320=) c.786G>C (p.Leu262=) c.1011G>C (p.Leu337=) c.996G>C (p.Leu332=) n.1000G>C c.375G>C (p.Leu125=) c.864G>C (p.Leu288=) c.327G>C (p.Leu109=) c.210G>C (p.Leu70=) c.316G>C | |
| 11 | g.71437815C>T | CA475567094 | DHCR7 | c.960G>A (p.Leu320=) c.786G>A (p.Leu262=) c.1011G>A (p.Leu337=) c.996G>A (p.Leu332=) n.1000G>A c.375G>A (p.Leu125=) c.864G>A (p.Leu288=) c.327G>A (p.Leu109=) c.210G>A (p.Leu70=) c.316G>A | gnomAD v4 |
| 11 | g.71437816A= | CA1981488001 | DHCR7 | c.959T= (p.Leu320=) c.785T= (p.Leu262=) c.1010T= (p.Leu337=) c.995T= (p.Leu332=) n.999T= c.374T= (p.Leu125=) c.863T= (p.Leu288=) c.326T= (p.Leu109=) c.209T= (p.Leu70=) c.315T= | |
| 11 | g.71437816A>C | CA381702883 | DHCR7 | c.959T>G (p.Leu320Arg) c.785T>G (p.Leu262Arg) c.1010T>G (p.Leu337Arg) c.995T>G (p.Leu332Arg) n.999T>G c.374T>G (p.Leu125Arg) c.863T>G (p.Leu288Arg) c.326T>G (p.Leu109Arg) c.209T>G (p.Leu70Arg) c.315T>G | |
| 11 | g.71437816A>G | CA381702884 | DHCR7 | c.959T>C (p.Leu320Pro) c.785T>C (p.Leu262Pro) c.1010T>C (p.Leu337Pro) c.995T>C (p.Leu332Pro) n.999T>C c.374T>C (p.Leu125Pro) c.863T>C (p.Leu288Pro) c.326T>C (p.Leu109Pro) c.209T>C (p.Leu70Pro) c.315T>C | ClinVar dbSNP |
| 11 | g.71437816A>T | CA381702885 | DHCR7 | c.959T>A (p.Leu320Gln) c.785T>A (p.Leu262Gln) c.1010T>A (p.Leu337Gln) c.995T>A (p.Leu332Gln) n.999T>A c.374T>A (p.Leu125Gln) c.863T>A (p.Leu288Gln) c.326T>A (p.Leu109Gln) c.209T>A (p.Leu70Gln) c.315T>A | |
| 11 | g.71437817G>A | CA475567108 | DHCR7 | c.958C>T (p.Leu320=) c.784C>T (p.Leu262=) c.1009C>T (p.Leu337=) c.994C>T (p.Leu332=) n.998C>T c.373C>T (p.Leu125=) c.862C>T (p.Leu288=) c.325C>T (p.Leu109=) c.208C>T (p.Leu70=) c.314C>T | ClinVar dbSNP |
| 11 | g.71437817G>C | CA381702886 | DHCR7 | c.958C>G (p.Leu320Val) c.784C>G (p.Leu262Val) c.1009C>G (p.Leu337Val) c.994C>G (p.Leu332Val) n.998C>G c.373C>G (p.Leu125Val) c.862C>G (p.Leu288Val) c.325C>G (p.Leu109Val) c.208C>G (p.Leu70Val) c.314C>G | |
| 11 | g.71437817G>T | CA381702887 | DHCR7 | c.958C>A (p.Leu320Met) c.784C>A (p.Leu262Met) c.1009C>A (p.Leu337Met) c.994C>A (p.Leu332Met) n.998C>A c.373C>A (p.Leu125Met) c.862C>A (p.Leu288Met) c.325C>A (p.Leu109Met) c.208C>A (p.Leu70Met) c.314C>A | COSMIC COSMIC |
| 11 | g.71437818C>A | CA6162396 | DHCR7 | c.957G>T (p.Thr319=) c.783G>T (p.Thr261=) c.1008G>T (p.Thr336=) c.993G>T (p.Thr331=) n.997G>T c.372G>T (p.Thr124=) c.861G>T (p.Thr287=) c.324G>T (p.Thr108=) c.207G>T (p.Thr69=) c.313G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71437818C= | CA1981488002 | DHCR7 | c.957G= (p.Thr319=) c.783G= (p.Thr261=) c.1008G= (p.Thr336=) c.993G= (p.Thr331=) n.997G= c.372G= (p.Thr124=) c.861G= (p.Thr287=) c.324G= (p.Thr108=) c.207G= (p.Thr69=) c.313G= | |
| 11 | g.71437818C>G | CA475567118 | DHCR7 | c.957G>C (p.Thr319=) c.783G>C (p.Thr261=) c.1008G>C (p.Thr336=) c.993G>C (p.Thr331=) n.997G>C c.372G>C (p.Thr124=) c.861G>C (p.Thr287=) c.324G>C (p.Thr108=) c.207G>C (p.Thr69=) c.313G>C | |
| 11 | g.71437818C>T | CA6162397 | DHCR7 | c.957G>A (p.Thr319=) c.783G>A (p.Thr261=) c.1008G>A (p.Thr336=) c.993G>A (p.Thr331=) n.997G>A c.372G>A (p.Thr124=) c.861G>A (p.Thr287=) c.324G>A (p.Thr108=) c.207G>A (p.Thr69=) c.313G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71437819G>A | CA6162398 | DHCR7 | c.956C>T (p.Thr319Met) c.782C>T (p.Thr261Met) c.1007C>T (p.Thr336Met) c.992C>T (p.Thr331Met) n.996C>T c.371C>T (p.Thr124Met) c.860C>T (p.Thr287Met) c.323C>T (p.Thr108Met) c.206C>T (p.Thr69Met) c.312C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71437819G>C | CA6162399 | DHCR7 | c.956C>G (p.Thr319Arg) c.782C>G (p.Thr261Arg) c.1007C>G (p.Thr336Arg) c.992C>G (p.Thr331Arg) n.996C>G c.371C>G (p.Thr124Arg) c.860C>G (p.Thr287Arg) c.323C>G (p.Thr108Arg) c.206C>G (p.Thr69Arg) c.312C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.71437819G= | CA1981488003 | DHCR7 | c.956C= (p.Thr319=) c.782C= (p.Thr261=) c.1007C= (p.Thr336=) c.992C= (p.Thr331=) n.996C= c.371C= (p.Thr124=) c.860C= (p.Thr287=) c.323C= (p.Thr108=) c.206C= (p.Thr69=) c.312C= | |
| 11 | g.71437819G>T | CA381702888 | DHCR7 | c.956C>A (p.Thr319Lys) c.782C>A (p.Thr261Lys) c.1007C>A (p.Thr336Lys) c.992C>A (p.Thr331Lys) n.996C>A c.371C>A (p.Thr124Lys) c.860C>A (p.Thr287Lys) c.323C>A (p.Thr108Lys) c.206C>A (p.Thr69Lys) c.312C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71437820T>A | CA381702891 | DHCR7 | c.955A>T (p.Thr319Ser) c.781A>T (p.Thr261Ser) c.1006A>T (p.Thr336Ser) c.991A>T (p.Thr331Ser) n.995A>T c.370A>T (p.Thr124Ser) c.859A>T (p.Thr287Ser) c.322A>T (p.Thr108Ser) c.205A>T (p.Thr69Ser) c.311A>T | |
| 11 | g.71437820T>C | CA381702889 | DHCR7 | c.955A>G (p.Thr319Ala) c.781A>G (p.Thr261Ala) c.1006A>G (p.Thr336Ala) c.991A>G (p.Thr331Ala) n.995A>G c.370A>G (p.Thr124Ala) c.859A>G (p.Thr287Ala) c.322A>G (p.Thr108Ala) c.205A>G (p.Thr69Ala) c.311A>G | ClinVar dbSNP gnomAD v2 |
| 11 | g.71437820T>G | CA381702890 | DHCR7 | c.955A>C (p.Thr319Pro) c.781A>C (p.Thr261Pro) c.1006A>C (p.Thr336Pro) c.991A>C (p.Thr331Pro) n.995A>C c.370A>C (p.Thr124Pro) c.859A>C (p.Thr287Pro) c.322A>C (p.Thr108Pro) c.205A>C (p.Thr69Pro) c.311A>C | |
| 11 | g.71437820T= | CA1981488004 | DHCR7 | c.955A= (p.Thr319=) c.781A= (p.Thr261=) c.1006A= (p.Thr336=) c.991A= (p.Thr331=) n.995A= c.370A= (p.Thr124=) c.859A= (p.Thr287=) c.322A= (p.Thr108=) c.205A= (p.Thr69=) c.311A= | |
| 11 | g.71437821G>A | CA475567136 | DHCR7 | c.954C>T (p.Tyr318=) c.780C>T (p.Tyr260=) c.1005C>T (p.Tyr335=) c.990C>T (p.Tyr330=) n.994C>T c.369C>T (p.Tyr123=) c.858C>T (p.Tyr286=) c.321C>T (p.Tyr107=) c.204C>T (p.Tyr68=) c.310C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71437821G>C | CA381702892 | DHCR7 | c.954C>G (p.Tyr318Ter) c.780C>G (p.Tyr260Ter) c.1005C>G (p.Tyr335Ter) c.990C>G (p.Tyr330Ter) n.994C>G c.369C>G (p.Tyr123Ter) c.858C>G (p.Tyr286Ter) c.321C>G (p.Tyr107Ter) c.204C>G (p.Tyr68Ter) c.310C>G | |
| 11 | g.71437821G= | CA1981488005 | DHCR7 | c.954C= (p.Tyr318=) c.780C= (p.Tyr260=) c.1005C= (p.Tyr335=) c.990C= (p.Tyr330=) n.994C= c.369C= (p.Tyr123=) c.858C= (p.Tyr286=) c.321C= (p.Tyr107=) c.204C= (p.Tyr68=) c.310C= | |
| 11 | g.71437821G>T | CA381702893 | DHCR7 | c.954C>A (p.Tyr318Ter) c.780C>A (p.Tyr260Ter) c.1005C>A (p.Tyr335Ter) c.990C>A (p.Tyr330Ter) n.994C>A c.369C>A (p.Tyr123Ter) c.858C>A (p.Tyr286Ter) c.321C>A (p.Tyr107Ter) c.204C>A (p.Tyr68Ter) c.310C>A | gnomAD v4 |
| 11 | g.71437822T>A | CA381702894 | DHCR7 | c.953A>T (p.Tyr318Phe) c.779A>T (p.Tyr260Phe) c.1004A>T (p.Tyr335Phe) c.989A>T (p.Tyr330Phe) n.993A>T c.368A>T (p.Tyr123Phe) c.857A>T (p.Tyr286Phe) c.320A>T (p.Tyr107Phe) c.203A>T (p.Tyr68Phe) c.309A>T | dbSNP gnomAD v2 |
| 11 | g.71437822T>C | CA381702895 | DHCR7 | c.953A>G (p.Tyr318Cys) c.779A>G (p.Tyr260Cys) c.1004A>G (p.Tyr335Cys) c.989A>G (p.Tyr330Cys) n.993A>G c.368A>G (p.Tyr123Cys) c.857A>G (p.Tyr286Cys) c.320A>G (p.Tyr107Cys) c.203A>G (p.Tyr68Cys) c.309A>G | ClinVar dbSNP |
| 11 | g.71437822T>G | CA381702896 | DHCR7 | c.953A>C (p.Tyr318Ser) c.779A>C (p.Tyr260Ser) c.1004A>C (p.Tyr335Ser) c.989A>C (p.Tyr330Ser) n.993A>C c.368A>C (p.Tyr123Ser) c.857A>C (p.Tyr286Ser) c.320A>C (p.Tyr107Ser) c.203A>C (p.Tyr68Ser) c.309A>C | gnomAD v4 |
| 11 | g.71437822T= | CA1981488006 | DHCR7 | c.953A= (p.Tyr318=) c.779A= (p.Tyr260=) c.1004A= (p.Tyr335=) c.989A= (p.Tyr330=) n.993A= c.368A= (p.Tyr123=) c.857A= (p.Tyr286=) c.320A= (p.Tyr107=) c.203A= (p.Tyr68=) c.309A= | |
| 11 | g.71437822_71437823del | CA912973038 | DHCR7 | c.952_953del (p.Tyr318HisfsTer?) c.778_779del (p.Tyr260HisfsTer?) c.1003_1004del (p.Tyr335HisfsTer?) c.952_953del (p.Tyr318HisfsTer21) c.988_989del (p.Tyr330HisfsTer?) n.992_993del c.367_368del (p.Tyr123HisfsTer?) c.856_857del (p.Tyr286HisfsTer?) c.319_320del (p.Tyr107HisfsTer?) c.202_203del (p.Tyr68HisfsTer?) c.308_309del |