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.40396123_40396230del | CA995889216 | PRX | c.2136_2243del (p.Lys713_Pro748del) c.1719_1826del (p.Lys574_Pro609del) c.2421_2528del (p.Lys808_Pro843del) c.2011_2118del c.1997_2104del c.2098_2205del c.2023_2130del c.*2341_*2448del (n.*2341_*2448del) c.2034_2141del (p.Lys679_Pro714del) | gnomAD v3 gnomAD v4 |
| 19 | g.40396123_40396231delinsGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCT | CA2335961475 | PRX | c.2121_2229delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro707=) c.1704_1812delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro568=) c.2406_2514delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro802=) c.1996_2104delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC c.1982_2090delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC c.2083_2191delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC c.2008_2116delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC c.*2326_*2434delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (n.*2326_*2434delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC) c.2019_2127delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro673=) | |
| 19 | g.40396144_40396251del | CA633466290 | PRX | c.2121_2228del (p.Glu708_Pro743del) c.1704_1811del (p.Glu569_Pro604del) c.2406_2513del (p.Glu803_Pro838del) c.1996_2103del c.1982_2089del c.2083_2190del c.2008_2115del c.*2326_*2433del (n.*2326_*2433del) c.2019_2126del (p.Glu674_Pro709del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396158_40396343dup | CA2573156370 | PRX | c.2028_2213dup (p.Pro738_Asp739insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro) c.1611_1796dup (p.Pro599_Asp600insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro) c.2313_2498dup (p.Pro833_Asp834insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro) c.1903_2088dup c.1889_2074dup c.1990_2175dup c.1915_2100dup c.*2233_*2418dup (n.*2233_*2418dup) c.1926_2111dup (p.Pro704_Asp705insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro) | ClinVar dbSNP |
| 19 | g.40396144A= | CA2335961490 | PRX | c.2208T= (p.Ala736=) c.1791T= (p.Ala597=) c.2493T= (p.Ala831=) c.2083T= c.2069T= c.2170T= c.2095T= c.*2413T= (n.*2413T=) c.2106T= (p.Ala702=) | |
| 19 | g.40396144A>C | CA507679338 | PRX | c.2208T>G (p.Ala736=) c.1791T>G (p.Ala597=) c.2493T>G (p.Ala831=) c.2083T>G c.2069T>G c.2170T>G c.2095T>G c.*2413T>G (n.*2413T>G) c.2106T>G (p.Ala702=) | |
| 19 | g.40396144A>G | CA507679340 | PRX | c.2208T>C (p.Ala736=) c.1791T>C (p.Ala597=) c.2493T>C (p.Ala831=) c.2083T>C c.2069T>C c.2170T>C c.2095T>C c.*2413T>C (n.*2413T>C) c.2106T>C (p.Ala702=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396144A>T | CA507679342 | PRX | c.2208T>A (p.Ala736=) c.1791T>A (p.Ala597=) c.2493T>A (p.Ala831=) c.2083T>A c.2069T>A c.2170T>A c.2095T>A c.*2413T>A (n.*2413T>A) c.2106T>A (p.Ala702=) | |
| 19 | g.40396145G>A | CA405896763 | PRX | c.2207C>T (p.Ala736Val) c.1790C>T (p.Ala597Val) c.2492C>T (p.Ala831Val) c.2082C>T c.2068C>T c.2169C>T c.2094C>T c.*2412C>T (n.*2412C>T) c.2105C>T (p.Ala702Val) | |
| 19 | g.40396145G>C | CA405896764 | PRX | c.2207C>G (p.Ala736Gly) c.1790C>G (p.Ala597Gly) c.2492C>G (p.Ala831Gly) c.2082C>G c.2068C>G c.2169C>G c.2094C>G c.*2412C>G (n.*2412C>G) c.2105C>G (p.Ala702Gly) | |
| 19 | g.40396145G>T | CA405896765 | PRX | c.2207C>A (p.Ala736Asp) c.1790C>A (p.Ala597Asp) c.2492C>A (p.Ala831Asp) c.2082C>A c.2068C>A c.2169C>A c.2094C>A c.*2412C>A (n.*2412C>A) c.2105C>A (p.Ala702Asp) | |
| 19 | g.40396146C>A | CA405896766 | PRX | c.2206G>T (p.Ala736Ser) c.1789G>T (p.Ala597Ser) c.2491G>T (p.Ala831Ser) c.2081G>T c.2067G>T c.2168G>T c.2093G>T c.*2411G>T (n.*2411G>T) c.2104G>T (p.Ala702Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396146C= | CA2335961491 | PRX | c.2206G= (p.Ala736=) c.1789G= (p.Ala597=) c.2491G= (p.Ala831=) c.2081G= c.2067G= c.2168G= c.2093G= c.*2411G= (n.*2411G=) c.2104G= (p.Ala702=) | |
| 19 | g.40396146C>G | CA405896767 | PRX | c.2206G>C (p.Ala736Pro) c.1789G>C (p.Ala597Pro) c.2491G>C (p.Ala831Pro) c.2081G>C c.2067G>C c.2168G>C c.2093G>C c.*2411G>C (n.*2411G>C) c.2104G>C (p.Ala702Pro) | |
| 19 | g.40396146C>T | CA405896768 | PRX | c.2206G>A (p.Ala736Thr) c.1789G>A (p.Ala597Thr) c.2491G>A (p.Ala831Thr) c.2081G>A c.2067G>A c.2168G>A c.2093G>A c.*2411G>A (n.*2411G>A) c.2104G>A (p.Ala702Thr) | |
| 19 | g.40396147C>A | CA405896769 | PRX | c.2205G>T (p.Met735Ile) c.1788G>T (p.Met596Ile) c.2490G>T (p.Met830Ile) c.2080G>T c.2066G>T c.2167G>T c.2092G>T c.*2410G>T (n.*2410G>T) c.2103G>T (p.Met701Ile) | |
| 19 | g.40396147C>G | CA405896771 | PRX | c.2205G>C (p.Met735Ile) c.1788G>C (p.Met596Ile) c.2490G>C (p.Met830Ile) c.2080G>C c.2066G>C c.2167G>C c.2092G>C c.*2410G>C (n.*2410G>C) c.2103G>C (p.Met701Ile) | |
| 19 | g.40396147C>T | CA405896770 | PRX | c.2205G>A (p.Met735Ile) c.1788G>A (p.Met596Ile) c.2490G>A (p.Met830Ile) c.2080G>A c.2066G>A c.2167G>A c.2092G>A c.*2410G>A (n.*2410G>A) c.2103G>A (p.Met701Ile) | |
| 19 | g.40396148A>C | CA405896772 | PRX | c.2204T>G (p.Met735Arg) c.1787T>G (p.Met596Arg) c.2489T>G (p.Met830Arg) c.2079T>G c.2065T>G c.2166T>G c.2091T>G c.*2409T>G (n.*2409T>G) c.2102T>G (p.Met701Arg) | |
| 19 | g.40396148A>G | CA405896773 | PRX | c.2204T>C (p.Met735Thr) c.1787T>C (p.Met596Thr) c.2489T>C (p.Met830Thr) c.2079T>C c.2065T>C c.2166T>C c.2091T>C c.*2409T>C (n.*2409T>C) c.2102T>C (p.Met701Thr) | |
| 19 | g.40396148A>T | CA405896774 | PRX | c.2204T>A (p.Met735Lys) c.1787T>A (p.Met596Lys) c.2489T>A (p.Met830Lys) c.2079T>A c.2065T>A c.2166T>A c.2091T>A c.*2409T>A (n.*2409T>A) c.2102T>A (p.Met701Lys) | |
| 19 | g.40396149T>A | CA405896775 | PRX | c.2203A>T (p.Met735Leu) c.1786A>T (p.Met596Leu) c.2488A>T (p.Met830Leu) c.2078A>T c.2064A>T c.2165A>T c.2090A>T c.*2408A>T (n.*2408A>T) c.2101A>T (p.Met701Leu) | |
| 19 | g.40396149T>C | CA405896776 | PRX | c.2203A>G (p.Met735Val) c.1786A>G (p.Met596Val) c.2488A>G (p.Met830Val) c.2078A>G c.2064A>G c.2165A>G c.2090A>G c.*2408A>G (n.*2408A>G) c.2101A>G (p.Met701Val) | |
| 19 | g.40396149T>G | CA405896777 | PRX | c.2203A>C (p.Met735Leu) c.1786A>C (p.Met596Leu) c.2488A>C (p.Met830Leu) c.2078A>C c.2064A>C c.2165A>C c.2090A>C c.*2408A>C (n.*2408A>C) c.2101A>C (p.Met701Leu) | |
| 19 | g.40396150C>A | CA405896778 | PRX | c.2202G>T (p.Glu734Asp) c.1785G>T (p.Glu595Asp) c.2487G>T (p.Glu829Asp) c.2077G>T c.2063G>T c.2164G>T c.2089G>T c.*2407G>T (n.*2407G>T) c.2100G>T (p.Glu700Asp) | |
| 19 | g.40396150C= | CA2335961492 | PRX | c.2202G= (p.Glu734=) c.1785G= (p.Glu595=) c.2487G= (p.Glu829=) c.2077G= c.2063G= c.2164G= c.2089G= c.*2407G= (n.*2407G=) c.2100G= (p.Glu700=) | |
| 19 | g.40396150C>G | CA405896779 | PRX | c.2202G>C (p.Glu734Asp) c.1785G>C (p.Glu595Asp) c.2487G>C (p.Glu829Asp) c.2077G>C c.2063G>C c.2164G>C c.2089G>C c.*2407G>C (n.*2407G>C) c.2100G>C (p.Glu700Asp) | gnomAD v4 |
| 19 | g.40396150C>T | CA9444112 | PRX | c.2202G>A (p.Glu734=) c.1785G>A (p.Glu595=) c.2487G>A (p.Glu829=) c.2077G>A c.2063G>A c.2164G>A c.2089G>A c.*2407G>A (n.*2407G>A) c.2100G>A (p.Glu700=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396151T>A | CA405896780 | PRX | c.2201A>T (p.Glu734Val) c.1784A>T (p.Glu595Val) c.2486A>T (p.Glu829Val) c.2076A>T c.2062A>T c.2163A>T c.2088A>T c.*2406A>T (n.*2406A>T) c.2099A>T (p.Glu700Val) | |
| 19 | g.40396151T>C | CA405896781 | PRX | c.2201A>G (p.Glu734Gly) c.1784A>G (p.Glu595Gly) c.2486A>G (p.Glu829Gly) c.2076A>G c.2062A>G c.2163A>G c.2088A>G c.*2406A>G (n.*2406A>G) c.2099A>G (p.Glu700Gly) | |
| 19 | g.40396151T>G | CA405896782 | PRX | c.2201A>C (p.Glu734Ala) c.1784A>C (p.Glu595Ala) c.2486A>C (p.Glu829Ala) c.2076A>C c.2062A>C c.2163A>C c.2088A>C c.*2406A>C (n.*2406A>C) c.2099A>C (p.Glu700Ala) | |
| 19 | g.40396171_40396278del | CA995889314 | PRX | c.2094_2201del (p.Met699_Glu734del) c.1677_1784del (p.Met560_Glu595del) c.2379_2486del (p.Met794_Glu829del) c.1969_2076del c.1955_2062del c.2056_2163del c.1981_2088del c.*2299_*2406del (n.*2299_*2406del) c.1992_2099del (p.Met665_Glu700del) | gnomAD v3 gnomAD v4 |
| 19 | g.40396152C>A | CA405896785 | PRX | c.2200G>T (p.Glu734Ter) c.1783G>T (p.Glu595Ter) c.2485G>T (p.Glu829Ter) c.2075G>T c.2061G>T c.2162G>T c.2087G>T c.*2405G>T (n.*2405G>T) c.2098G>T (p.Glu700Ter) | |
| 19 | g.40396152C>G | CA405896783 | PRX | c.2200G>C (p.Glu734Gln) c.1783G>C (p.Glu595Gln) c.2485G>C (p.Glu829Gln) c.2075G>C c.2061G>C c.2162G>C c.2087G>C c.*2405G>C (n.*2405G>C) c.2098G>C (p.Glu700Gln) | |
| 19 | g.40396152C>T | CA405896784 | PRX | c.2200G>A (p.Glu734Lys) c.1783G>A (p.Glu595Lys) c.2485G>A (p.Glu829Lys) c.2075G>A c.2061G>A c.2162G>A c.2087G>A c.*2405G>A (n.*2405G>A) c.2098G>A (p.Glu700Lys) | gnomAD v4 |
| 19 | g.40396153del | CA2585127081 | PRX | c.2199del (p.Glu734ArgfsTer?) c.1782del (p.Glu595ArgfsTer?) c.2484del (p.Glu829ArgfsTer?) c.2074del c.2060del c.2161del c.2086del c.*2404del (n.*2404del) c.2097del (p.Glu700ArgfsTer?) | gnomAD v4 |
| 19 | g.40396153A= | CA2335961493 | PRX | c.2199T= (p.Pro733=) c.1782T= (p.Pro594=) c.2484T= (p.Pro828=) c.2074T= c.2060T= c.2161T= c.2086T= c.*2404T= (n.*2404T=) c.2097T= (p.Pro699=) | |
| 19 | g.40396153A>C | CA507679350 | PRX | c.2199T>G (p.Pro733=) c.1782T>G (p.Pro594=) c.2484T>G (p.Pro828=) c.2074T>G c.2060T>G c.2161T>G c.2086T>G c.*2404T>G (n.*2404T>G) c.2097T>G (p.Pro699=) | |
| 19 | g.40396153A>G | CA507679352 | PRX | c.2199T>C (p.Pro733=) c.1782T>C (p.Pro594=) c.2484T>C (p.Pro828=) c.2074T>C c.2060T>C c.2161T>C c.2086T>C c.*2404T>C (n.*2404T>C) c.2097T>C (p.Pro699=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.40396153A>T | CA507679354 | PRX | c.2199T>A (p.Pro733=) c.1782T>A (p.Pro594=) c.2484T>A (p.Pro828=) c.2074T>A c.2060T>A c.2161T>A c.2086T>A c.*2404T>A (n.*2404T>A) c.2097T>A (p.Pro699=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396154G>A | CA405896786 | PRX | c.2198C>T (p.Pro733Leu) c.1781C>T (p.Pro594Leu) c.2483C>T (p.Pro828Leu) c.2073C>T c.2059C>T c.2160C>T c.2085C>T c.*2403C>T (n.*2403C>T) c.2096C>T (p.Pro699Leu) | gnomAD v4 |
| 19 | g.40396154G>C | CA405896787 | PRX | c.2198C>G (p.Pro733Arg) c.1781C>G (p.Pro594Arg) c.2483C>G (p.Pro828Arg) c.2073C>G c.2059C>G c.2160C>G c.2085C>G c.*2403C>G (n.*2403C>G) c.2096C>G (p.Pro699Arg) | |
| 19 | g.40396154G>T | CA405896788 | PRX | c.2198C>A (p.Pro733His) c.1781C>A (p.Pro594His) c.2483C>A (p.Pro828His) c.2073C>A c.2059C>A c.2160C>A c.2085C>A c.*2403C>A (n.*2403C>A) c.2096C>A (p.Pro699His) | |
| 19 | g.40396155G>A | CA405896789 | PRX | c.2197C>T (p.Pro733Ser) c.1780C>T (p.Pro594Ser) c.2482C>T (p.Pro828Ser) c.2072C>T c.2058C>T c.2159C>T c.2084C>T c.*2402C>T (n.*2402C>T) c.2095C>T (p.Pro699Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396155G>C | CA405896790 | PRX | c.2197C>G (p.Pro733Ala) c.1780C>G (p.Pro594Ala) c.2482C>G (p.Pro828Ala) c.2072C>G c.2058C>G c.2159C>G c.2084C>G c.*2402C>G (n.*2402C>G) c.2095C>G (p.Pro699Ala) | |
| 19 | g.40396155G= | CA2335961494 | PRX | c.2197C= (p.Pro733=) c.1780C= (p.Pro594=) c.2482C= (p.Pro828=) c.2072C= c.2058C= c.2159C= c.2084C= c.*2402C= (n.*2402C=) c.2095C= (p.Pro699=) | |
| 19 | g.40396155G>T | CA405896791 | PRX | c.2197C>A (p.Pro733Thr) c.1780C>A (p.Pro594Thr) c.2482C>A (p.Pro828Thr) c.2072C>A c.2058C>A c.2159C>A c.2084C>A c.*2402C>A (n.*2402C>A) c.2095C>A (p.Pro699Thr) | gnomAD v4 |
| 19 | g.40396156C>A | CA507679355 | PRX | c.2196G>T (p.Val732=) c.1779G>T (p.Val593=) c.2481G>T (p.Val827=) c.2071G>T c.2057G>T c.2158G>T c.2083G>T c.*2401G>T (n.*2401G>T) c.2094G>T (p.Val698=) | |
| 19 | g.40396156C= | CA2335961495 | PRX | c.2196G= (p.Val732=) c.1779G= (p.Val593=) c.2481G= (p.Val827=) c.2071G= c.2057G= c.2158G= c.2083G= c.*2401G= (n.*2401G=) c.2094G= (p.Val698=) | |
| 19 | g.40396156C>G | CA507679356 | PRX | c.2196G>C (p.Val732=) c.1779G>C (p.Val593=) c.2481G>C (p.Val827=) c.2071G>C c.2057G>C c.2158G>C c.2083G>C c.*2401G>C (n.*2401G>C) c.2094G>C (p.Val698=) |