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.68433736G>A | CA6150145 | LRP5 | c.3898G>A (p.Ala1300Thr) c.*2504G>A (n.*2504G>A) c.2155G>A (p.Ala719Thr) c.3925G>A (p.Ala1309Thr) n.3940G>A c.1438G>A (p.Ala480Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68433736G>C | CA381613859 | LRP5 | c.3898G>C (p.Ala1300Pro) c.*2504G>C (n.*2504G>C) c.2155G>C (p.Ala719Pro) c.3925G>C (p.Ala1309Pro) n.3940G>C c.1438G>C (p.Ala480Pro) | |
| 11 | g.68433736G= | CA1980622290 | LRP5 | c.3898G= (p.Ala1300=) c.*2504G= (n.*2504G=) c.2155G= (p.Ala719=) c.3925G= (p.Ala1309=) n.3940G= c.1438G= (p.Ala480=) | |
| 11 | g.68433736G>T | CA381613860 | LRP5 | c.3898G>T (p.Ala1300Ser) c.*2504G>T (n.*2504G>T) c.2155G>T (p.Ala719Ser) c.3925G>T (p.Ala1309Ser) n.3940G>T c.1438G>T (p.Ala480Ser) | gnomAD v4 |
| 11 | g.68433737C>A | CA381613861 | LRP5 | c.3899C>A (p.Ala1300Asp) c.*2505C>A (n.*2505C>A) c.2156C>A (p.Ala719Asp) c.3926C>A (p.Ala1309Asp) n.3941C>A c.1439C>A (p.Ala480Asp) | |
| 11 | g.68433737C>G | CA381613862 | LRP5 | c.3899C>G (p.Ala1300Gly) c.*2505C>G (n.*2505C>G) c.2156C>G (p.Ala719Gly) c.3926C>G (p.Ala1309Gly) n.3941C>G c.1439C>G (p.Ala480Gly) | |
| 11 | g.68433737C>T | CA381613863 | LRP5 | c.3899C>T (p.Ala1300Val) c.*2505C>T (n.*2505C>T) c.2156C>T (p.Ala719Val) c.3926C>T (p.Ala1309Val) n.3941C>T c.1439C>T (p.Ala480Val) | |
| 11 | g.68433738C>A | CA475460786 | LRP5 | c.3900C>A (p.Ala1300=) c.*2506C>A (n.*2506C>A) c.2157C>A (p.Ala719=) c.3927C>A (p.Ala1309=) n.3942C>A c.1440C>A (p.Ala480=) | |
| 11 | g.68433738C= | CA1980622295 | LRP5 | c.3900C= (p.Ala1300=) c.*2506C= (n.*2506C=) c.2157C= (p.Ala719=) c.3927C= (p.Ala1309=) n.3942C= c.1440C= (p.Ala480=) | |
| 11 | g.68433738C>G | CA475460787 | LRP5 | c.3900C>G (p.Ala1300=) c.*2506C>G (n.*2506C>G) c.2157C>G (p.Ala719=) c.3927C>G (p.Ala1309=) n.3942C>G c.1440C>G (p.Ala480=) | gnomAD v4 |
| 11 | g.68433738C>T | CA6150146 | LRP5 | c.3900C>T (p.Ala1300=) c.*2506C>T (n.*2506C>T) c.2157C>T (p.Ala719=) c.3927C>T (p.Ala1309=) n.3942C>T c.1440C>T (p.Ala480=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433739G>A | CA6150147 | LRP5 | c.3901G>A (p.Ala1301Thr) c.*2507G>A (n.*2507G>A) c.2158G>A (p.Ala720Thr) c.3928G>A (p.Ala1310Thr) n.3943G>A c.1441G>A (p.Ala481Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433739G>C | CA381613865 | LRP5 | c.3901G>C (p.Ala1301Pro) c.*2507G>C (n.*2507G>C) c.2158G>C (p.Ala720Pro) c.3928G>C (p.Ala1310Pro) n.3943G>C c.1441G>C (p.Ala481Pro) | |
| 11 | g.68433739G= | CA1980622302 | LRP5 | c.3901G= (p.Ala1301=) c.*2507G= (n.*2507G=) c.2158G= (p.Ala720=) c.3928G= (p.Ala1310=) n.3943G= c.1441G= (p.Ala481=) | |
| 11 | g.68433739G>T | CA381613864 | LRP5 | c.3901G>T (p.Ala1301Ser) c.*2507G>T (n.*2507G>T) c.2158G>T (p.Ala720Ser) c.3928G>T (p.Ala1310Ser) n.3943G>T c.1441G>T (p.Ala481Ser) | |
| 11 | g.68433740C>A | CA381613866 | LRP5 | c.3902C>A (p.Ala1301Asp) c.*2508C>A (n.*2508C>A) c.2159C>A (p.Ala720Asp) c.3929C>A (p.Ala1310Asp) n.3944C>A c.1442C>A (p.Ala481Asp) | |
| 11 | g.68433740C>G | CA381613867 | LRP5 | c.3902C>G (p.Ala1301Gly) c.*2508C>G (n.*2508C>G) c.2159C>G (p.Ala720Gly) c.3929C>G (p.Ala1310Gly) n.3944C>G c.1442C>G (p.Ala481Gly) | |
| 11 | g.68433740C>T | CA381613868 | LRP5 | c.3902C>T (p.Ala1301Val) c.*2508C>T (n.*2508C>T) c.2159C>T (p.Ala720Val) c.3929C>T (p.Ala1310Val) n.3944C>T c.1442C>T (p.Ala481Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68433741C>A | CA475460788 | LRP5 | c.3903C>A (p.Ala1301=) c.*2509C>A (n.*2509C>A) c.2160C>A (p.Ala720=) c.3930C>A (p.Ala1310=) n.3945C>A c.1443C>A (p.Ala481=) | |
| 11 | g.68433741C= | CA1980622309 | LRP5 | c.3903C= (p.Ala1301=) c.*2509C= (n.*2509C=) c.2160C= (p.Ala720=) c.3930C= (p.Ala1310=) n.3945C= c.1443C= (p.Ala481=) | |
| 11 | g.68433741C>G | CA475460789 | LRP5 | c.3903C>G (p.Ala1301=) c.*2509C>G (n.*2509C>G) c.2160C>G (p.Ala720=) c.3930C>G (p.Ala1310=) n.3945C>G c.1443C>G (p.Ala481=) | |
| 11 | g.68433741C>T | CA475460790 | LRP5 | c.3903C>T (p.Ala1301=) c.*2509C>T (n.*2509C>T) c.2160C>T (p.Ala720=) c.3930C>T (p.Ala1310=) n.3945C>T c.1443C>T (p.Ala481=) | dbSNP |
| 11 | g.68433742C>A | CA381613869 | LRP5 | c.3904C>A (p.Gln1302Lys) c.*2510C>A (n.*2510C>A) c.2161C>A (p.Gln721Lys) c.3931C>A (p.Gln1311Lys) n.3946C>A c.1444C>A (p.Gln482Lys) | ClinVar dbSNP |
| 11 | g.68433742C= | CA1980622314 | LRP5 | c.3904C= (p.Gln1302=) c.*2510C= (n.*2510C=) c.2161C= (p.Gln721=) c.3931C= (p.Gln1311=) n.3946C= c.1444C= (p.Gln482=) | |
| 11 | g.68433742C>G | CA381613870 | LRP5 | c.3904C>G (p.Gln1302Glu) c.*2510C>G (n.*2510C>G) c.2161C>G (p.Gln721Glu) c.3931C>G (p.Gln1311Glu) n.3946C>G c.1444C>G (p.Gln482Glu) | dbSNP |
| 11 | g.68433742C>T | CA381613871 | LRP5 | c.3904C>T (p.Gln1302Ter) c.*2510C>T (n.*2510C>T) c.2161C>T (p.Gln721Ter) c.3931C>T (p.Gln1311Ter) n.3946C>T c.1444C>T (p.Gln482Ter) | |
| 11 | g.68433743A>C | CA381613874 | LRP5 | c.3905A>C (p.Gln1302Pro) c.*2511A>C (n.*2511A>C) c.2162A>C (p.Gln721Pro) c.3932A>C (p.Gln1311Pro) n.3947A>C c.1445A>C (p.Gln482Pro) | |
| 11 | g.68433743A>G | CA381613872 | LRP5 | c.3905A>G (p.Gln1302Arg) c.*2511A>G (n.*2511A>G) c.2162A>G (p.Gln721Arg) c.3932A>G (p.Gln1311Arg) n.3947A>G c.1445A>G (p.Gln482Arg) | |
| 11 | g.68433743A>T | CA381613873 | LRP5 | c.3905A>T (p.Gln1302Leu) c.*2511A>T (n.*2511A>T) c.2162A>T (p.Gln721Leu) c.3932A>T (p.Gln1311Leu) n.3947A>T c.1445A>T (p.Gln482Leu) | COSMIC |
| 11 | g.68433744G>A | CA475460791 | LRP5 | c.3906G>A (p.Gln1302=) c.*2512G>A (n.*2512G>A) c.2163G>A (p.Gln721=) c.3933G>A (p.Gln1311=) n.3948G>A c.1446G>A (p.Gln482=) | |
| 11 | g.68433744G>C | CA381613875 | LRP5 | c.3906G>C (p.Gln1302His) c.*2512G>C (n.*2512G>C) c.2163G>C (p.Gln721His) c.3933G>C (p.Gln1311His) n.3948G>C c.1446G>C (p.Gln482His) | |
| 11 | g.68433744G= | CA1980622319 | LRP5 | c.3906G= (p.Gln1302=) c.*2512G= (n.*2512G=) c.2163G= (p.Gln721=) c.3933G= (p.Gln1311=) n.3948G= c.1446G= (p.Gln482=) | |
| 11 | g.68433744G>T | CA6150148 | LRP5 | c.3906G>T (p.Gln1302His) c.*2512G>T (n.*2512G>T) c.2163G>T (p.Gln721His) c.3933G>T (p.Gln1311His) n.3948G>T c.1446G>T (p.Gln482His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68433745T>A | CA381613876 | LRP5 | c.3907T>A (p.Phe1303Ile) c.*2513T>A (n.*2513T>A) c.2164T>A (p.Phe722Ile) c.3934T>A (p.Phe1312Ile) n.3949T>A c.1447T>A (p.Phe483Ile) | gnomAD v4 |
| 11 | g.68433745T>C | CA381613877 | LRP5 | c.3907T>C (p.Phe1303Leu) c.*2513T>C (n.*2513T>C) c.2164T>C (p.Phe722Leu) c.3934T>C (p.Phe1312Leu) n.3949T>C c.1447T>C (p.Phe483Leu) | |
| 11 | g.68433745T>G | CA381613878 | LRP5 | c.3907T>G (p.Phe1303Val) c.*2513T>G (n.*2513T>G) c.2164T>G (p.Phe722Val) c.3934T>G (p.Phe1312Val) n.3949T>G c.1447T>G (p.Phe483Val) | |
| 11 | g.68433746T>A | CA381613879 | LRP5 | c.3908T>A (p.Phe1303Tyr) c.*2514T>A (n.*2514T>A) c.2165T>A (p.Phe722Tyr) c.3935T>A (p.Phe1312Tyr) n.3950T>A c.1448T>A (p.Phe483Tyr) | |
| 11 | g.68433746T>C | CA381613881 | LRP5 | c.3908T>C (p.Phe1303Ser) c.*2514T>C (n.*2514T>C) c.2165T>C (p.Phe722Ser) c.3935T>C (p.Phe1312Ser) n.3950T>C c.1448T>C (p.Phe483Ser) | |
| 11 | g.68433746T>G | CA381613880 | LRP5 | c.3908T>G (p.Phe1303Cys) c.*2514T>G (n.*2514T>G) c.2165T>G (p.Phe722Cys) c.3935T>G (p.Phe1312Cys) n.3950T>G c.1448T>G (p.Phe483Cys) | |
| 11 | g.68433747C>A | CA381613882 | LRP5 | c.3909C>A (p.Phe1303Leu) c.*2515C>A (n.*2515C>A) c.2166C>A (p.Phe722Leu) c.3936C>A (p.Phe1312Leu) n.3951C>A c.1449C>A (p.Phe483Leu) | |
| 11 | g.68433747C>G | CA381613883 | LRP5 | c.3909C>G (p.Phe1303Leu) c.*2515C>G (n.*2515C>G) c.2166C>G (p.Phe722Leu) c.3936C>G (p.Phe1312Leu) n.3951C>G c.1449C>G (p.Phe483Leu) | |
| 11 | g.68433747C>T | CA475460792 | LRP5 | c.3909C>T (p.Phe1303=) c.*2515C>T (n.*2515C>T) c.2166C>T (p.Phe722=) c.3936C>T (p.Phe1312=) n.3951C>T c.1449C>T (p.Phe483=) | COSMIC |
| 11 | g.68433748C>A | CA381613884 | LRP5 | c.3910C>A (p.Pro1304Thr) c.*2516C>A (n.*2516C>A) c.2167C>A (p.Pro723Thr) c.3937C>A (p.Pro1313Thr) n.3952C>A c.1450C>A (p.Pro484Thr) | |
| 11 | g.68433748C= | CA1980622342 | LRP5 | c.3910C= (p.Pro1304=) c.*2516C= (n.*2516C=) c.2167C= (p.Pro723=) c.3937C= (p.Pro1313=) n.3952C= c.1450C= (p.Pro484=) | |
| 11 | g.68433748C>G | CA381613885 | LRP5 | c.3910C>G (p.Pro1304Ala) c.*2516C>G (n.*2516C>G) c.2167C>G (p.Pro723Ala) c.3937C>G (p.Pro1313Ala) n.3952C>G c.1450C>G (p.Pro484Ala) | |
| 11 | g.68433748C>T | CA6150149 | LRP5 | c.3910C>T (p.Pro1304Ser) c.*2516C>T (n.*2516C>T) c.2167C>T (p.Pro723Ser) c.3937C>T (p.Pro1313Ser) n.3952C>T c.1450C>T (p.Pro484Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68433749C>A | CA381613886 | LRP5 | c.3911C>A (p.Pro1304His) c.*2517C>A (n.*2517C>A) c.2168C>A (p.Pro723His) c.3938C>A (p.Pro1313His) n.3953C>A c.1451C>A (p.Pro484His) | |
| 11 | g.68433749C= | CA1980622346 | LRP5 | c.3911C= (p.Pro1304=) c.*2517C= (n.*2517C=) c.2168C= (p.Pro723=) c.3938C= (p.Pro1313=) n.3953C= c.1451C= (p.Pro484=) | |
| 11 | g.68433749C>G | CA381613887 | LRP5 | c.3911C>G (p.Pro1304Arg) c.*2517C>G (n.*2517C>G) c.2168C>G (p.Pro723Arg) c.3938C>G (p.Pro1313Arg) n.3953C>G c.1451C>G (p.Pro484Arg) | |
| 11 | g.68433749C>T | CA6150150 | LRP5 | c.3911C>T (p.Pro1304Leu) c.*2517C>T (n.*2517C>T) c.2168C>T (p.Pro723Leu) c.3938C>T (p.Pro1313Leu) n.3953C>T c.1451C>T (p.Pro484Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |