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.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.40396171T>A | CA507679379 | PRX | c.2181A>T (p.Ile727=) c.1764A>T (p.Ile588=) c.2466A>T (p.Ile822=) c.2056A>T c.2042A>T c.2143A>T c.2068A>T c.*2386A>T (n.*2386A>T) c.2079A>T (p.Ile693=) | |
| 19 | g.40396171T>C | CA308419627 | PRX | c.2181A>G (p.Ile727Met) c.1764A>G (p.Ile588Met) c.2466A>G (p.Ile822Met) c.2056A>G c.2042A>G c.2143A>G c.2068A>G c.*2386A>G (n.*2386A>G) c.2079A>G (p.Ile693Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.40396171T>G | CA507679380 | PRX | c.2181A>C (p.Ile727=) c.1764A>C (p.Ile588=) c.2466A>C (p.Ile822=) c.2056A>C c.2042A>C c.2143A>C c.2068A>C c.*2386A>C (n.*2386A>C) c.2079A>C (p.Ile693=) | |
| 19 | g.40396171T= | CA2335961502 | PRX | c.2181A= (p.Ile727=) c.1764A= (p.Ile588=) c.2466A= (p.Ile822=) c.2056A= c.2042A= c.2143A= c.2068A= c.*2386A= (n.*2386A=) c.2079A= (p.Ile693=) | |
| 19 | g.40396172_40396173del | CA2739276801 | PRX | c.2180_2181del (p.Ile727LysfsTer7) c.1763_1764del (p.Ile588LysfsTer7) c.2465_2466del (p.Ile822LysfsTer7) c.2055_2056del c.2041_2042del c.2142_2143del c.2067_2068del c.*2385_*2386del (n.*2385_*2386del) c.2078_2079del (p.Ile693LysfsTer7) | ClinVar |
| 19 | g.40396172_40396175del | CA995889352 | PRX | c.2178_2181del (p.Ile727AsnfsTer?) c.1761_1764del (p.Ile588AsnfsTer?) c.2463_2466del (p.Ile822AsnfsTer?) c.2053_2056del c.2039_2042del c.2140_2143del c.2065_2068del c.*2383_*2386del (n.*2383_*2386del) c.2076_2079del (p.Ile693AsnfsTer?) | gnomAD v3 gnomAD v4 |
| 19 | g.40396172A>C | CA405896826 | PRX | c.2180T>G (p.Ile727Arg) c.1763T>G (p.Ile588Arg) c.2465T>G (p.Ile822Arg) c.2055T>G c.2041T>G c.2142T>G c.2067T>G c.*2385T>G (n.*2385T>G) c.2078T>G (p.Ile693Arg) | |
| 19 | g.40396172A>G | CA405896827 | PRX | c.2180T>C (p.Ile727Thr) c.1763T>C (p.Ile588Thr) c.2465T>C (p.Ile822Thr) c.2055T>C c.2041T>C c.2142T>C c.2067T>C c.*2385T>C (n.*2385T>C) c.2078T>C (p.Ile693Thr) | |
| 19 | g.40396172A>T | CA405896828 | PRX | c.2180T>A (p.Ile727Lys) c.1763T>A (p.Ile588Lys) c.2465T>A (p.Ile822Lys) c.2055T>A c.2041T>A c.2142T>A c.2067T>A c.*2385T>A (n.*2385T>A) c.2078T>A (p.Ile693Lys) | |
| 19 | g.40396173T>A | CA405896829 | PRX | c.2179A>T (p.Ile727Leu) c.1762A>T (p.Ile588Leu) c.2464A>T (p.Ile822Leu) c.2054A>T c.2040A>T c.2141A>T c.2066A>T c.*2384A>T (n.*2384A>T) c.2077A>T (p.Ile693Leu) | |
| 19 | g.40396173T>C | CA405896830 | PRX | c.2179A>G (p.Ile727Val) c.1762A>G (p.Ile588Val) c.2464A>G (p.Ile822Val) c.2054A>G c.2040A>G c.2141A>G c.2066A>G c.*2384A>G (n.*2384A>G) c.2077A>G (p.Ile693Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396173T>G | CA405896831 | PRX | c.2179A>C (p.Ile727Leu) c.1762A>C (p.Ile588Leu) c.2464A>C (p.Ile822Leu) c.2054A>C c.2040A>C c.2141A>C c.2066A>C c.*2384A>C (n.*2384A>C) c.2077A>C (p.Ile693Leu) | |
| 19 | g.40396173T= | CA2335961503 | PRX | c.2179A= (p.Ile727=) c.1762A= (p.Ile588=) c.2464A= (p.Ile822=) c.2054A= c.2040A= c.2141A= c.2066A= c.*2384A= (n.*2384A=) c.2077A= (p.Ile693=) | |
| 19 | g.40396174C>A | CA405896832 | PRX | c.2178G>T (p.Glu726Asp) c.1761G>T (p.Glu587Asp) c.2463G>T (p.Glu821Asp) c.2053G>T c.2039G>T c.2140G>T c.2065G>T c.*2383G>T (n.*2383G>T) c.2076G>T (p.Glu692Asp) | |
| 19 | g.40396174C= | CA2335961504 | PRX | c.2178G= (p.Glu726=) c.1761G= (p.Glu587=) c.2463G= (p.Glu821=) c.2053G= c.2039G= c.2140G= c.2065G= c.*2383G= (n.*2383G=) c.2076G= (p.Glu692=) | |
| 19 | g.40396174C>G | CA9444113 | PRX | c.2178G>C (p.Glu726Asp) c.1761G>C (p.Glu587Asp) c.2463G>C (p.Glu821Asp) c.2053G>C c.2039G>C c.2140G>C c.2065G>C c.*2383G>C (n.*2383G>C) c.2076G>C (p.Glu692Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396174C>T | CA507679387 | PRX | c.2178G>A (p.Glu726=) c.1761G>A (p.Glu587=) c.2463G>A (p.Glu821=) c.2053G>A c.2039G>A c.2140G>A c.2065G>A c.*2383G>A (n.*2383G>A) c.2076G>A (p.Glu692=) | ClinVar dbSNP |
| 19 | g.40396175T>A | CA405896833 | PRX | c.2177A>T (p.Glu726Val) c.1760A>T (p.Glu587Val) c.2462A>T (p.Glu821Val) c.2052A>T c.2038A>T c.2139A>T c.2064A>T c.*2382A>T (n.*2382A>T) c.2075A>T (p.Glu692Val) | |
| 19 | g.40396175T>C | CA405896834 | PRX | c.2177A>G (p.Glu726Gly) c.1760A>G (p.Glu587Gly) c.2462A>G (p.Glu821Gly) c.2052A>G c.2038A>G c.2139A>G c.2064A>G c.*2382A>G (n.*2382A>G) c.2075A>G (p.Glu692Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396175T>G | CA405896835 | PRX | c.2177A>C (p.Glu726Ala) c.1760A>C (p.Glu587Ala) c.2462A>C (p.Glu821Ala) c.2052A>C c.2038A>C c.2139A>C c.2064A>C c.*2382A>C (n.*2382A>C) c.2075A>C (p.Glu692Ala) | |
| 19 | g.40396175T= | CA2335961505 | PRX | c.2177A= (p.Glu726=) c.1760A= (p.Glu587=) c.2462A= (p.Glu821=) c.2052A= c.2038A= c.2139A= c.2064A= c.*2382A= (n.*2382A=) c.2075A= (p.Glu692=) | |
| 19 | g.40396176C>A | CA405896836 | PRX | c.2176G>T (p.Glu726Ter) c.1759G>T (p.Glu587Ter) c.2461G>T (p.Glu821Ter) c.2051G>T c.2037G>T c.2138G>T c.2063G>T c.*2381G>T (n.*2381G>T) c.2074G>T (p.Glu692Ter) | |
| 19 | g.40396176C>G | CA405896837 | PRX | c.2176G>C (p.Glu726Gln) c.1759G>C (p.Glu587Gln) c.2461G>C (p.Glu821Gln) c.2051G>C c.2037G>C c.2138G>C c.2063G>C c.*2381G>C (n.*2381G>C) c.2074G>C (p.Glu692Gln) | |
| 19 | g.40396176C>T | CA405896838 | PRX | c.2176G>A (p.Glu726Lys) c.1759G>A (p.Glu587Lys) c.2461G>A (p.Glu821Lys) c.2051G>A c.2037G>A c.2138G>A c.2063G>A c.*2381G>A (n.*2381G>A) c.2074G>A (p.Glu692Lys) | ClinVar |
| 19 | g.40396177T>A | CA507679388 | PRX | c.2175A>T (p.Pro725=) c.1758A>T (p.Pro586=) c.2460A>T (p.Pro820=) c.2050A>T c.2036A>T c.2137A>T c.2062A>T c.*2380A>T (n.*2380A>T) c.2073A>T (p.Pro691=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396177T>C | CA507679390 | PRX | c.2175A>G (p.Pro725=) c.1758A>G (p.Pro586=) c.2460A>G (p.Pro820=) c.2050A>G c.2036A>G c.2137A>G c.2062A>G c.*2380A>G (n.*2380A>G) c.2073A>G (p.Pro691=) | dbSNP gnomAD v4 |
| 19 | g.40396177T>G | CA507679391 | PRX | c.2175A>C (p.Pro725=) c.1758A>C (p.Pro586=) c.2460A>C (p.Pro820=) c.2050A>C c.2036A>C c.2137A>C c.2062A>C c.*2380A>C (n.*2380A>C) c.2073A>C (p.Pro691=) | |
| 19 | g.40396177T= | CA2335961506 | PRX | c.2175A= (p.Pro725=) c.1758A= (p.Pro586=) c.2460A= (p.Pro820=) c.2050A= c.2036A= c.2137A= c.2062A= c.*2380A= (n.*2380A=) c.2073A= (p.Pro691=) | |
| 19 | g.40396178G>A | CA405896839 | PRX | c.2174C>T (p.Pro725Leu) c.1757C>T (p.Pro586Leu) c.2459C>T (p.Pro820Leu) c.2049C>T c.2035C>T c.2136C>T c.2061C>T c.*2379C>T (n.*2379C>T) c.2072C>T (p.Pro691Leu) | gnomAD v4 COSMIC |
| 19 | g.40396178G>C | CA405896840 | PRX | c.2174C>G (p.Pro725Arg) c.1757C>G (p.Pro586Arg) c.2459C>G (p.Pro820Arg) c.2049C>G c.2035C>G c.2136C>G c.2061C>G c.*2379C>G (n.*2379C>G) c.2072C>G (p.Pro691Arg) | |
| 19 | g.40396178G>T | CA405896841 | PRX | c.2174C>A (p.Pro725Gln) c.1757C>A (p.Pro586Gln) c.2459C>A (p.Pro820Gln) c.2049C>A c.2035C>A c.2136C>A c.2061C>A c.*2379C>A (n.*2379C>A) c.2072C>A (p.Pro691Gln) | |
| 19 | g.40396179_40396195del | CA2736045053 | PRX | c.2158_2174del (p.Pro720ArgfsTer9) c.1741_1757del (p.Pro581ArgfsTer9) c.2443_2459del (p.Pro815ArgfsTer9) c.2033_2049del c.2019_2035del c.2120_2136del c.2045_2061del c.*2363_*2379del (n.*2363_*2379del) c.2056_2072del (p.Pro686ArgfsTer9) | dbSNP |
| 19 | g.40396179G>A | CA405896842 | PRX | c.2173C>T (p.Pro725Ser) c.1756C>T (p.Pro586Ser) c.2458C>T (p.Pro820Ser) c.2048C>T c.2034C>T c.2135C>T c.2060C>T c.*2378C>T (n.*2378C>T) c.2071C>T (p.Pro691Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396179G>C | CA405896843 | PRX | c.2173C>G (p.Pro725Ala) c.1756C>G (p.Pro586Ala) c.2458C>G (p.Pro820Ala) c.2048C>G c.2034C>G c.2135C>G c.2060C>G c.*2378C>G (n.*2378C>G) c.2071C>G (p.Pro691Ala) | gnomAD v4 |
| 19 | g.40396179G= | CA2335961507 | PRX | c.2173C= (p.Pro725=) c.1756C= (p.Pro586=) c.2458C= (p.Pro820=) c.2048C= c.2034C= c.2135C= c.2060C= c.*2378C= (n.*2378C=) c.2071C= (p.Pro691=) | |
| 19 | g.40396179G>T | CA405896844 | PRX | c.2173C>A (p.Pro725Thr) c.1756C>A (p.Pro586Thr) c.2458C>A (p.Pro820Thr) c.2048C>A c.2034C>A c.2135C>A c.2060C>A c.*2378C>A (n.*2378C>A) c.2071C>A (p.Pro691Thr) | |
| 19 | g.40396180G>A | CA507679393 | PRX | c.2172C>T (p.Leu724=) c.1755C>T (p.Leu585=) c.2457C>T (p.Leu819=) c.2047C>T c.2033C>T c.2134C>T c.2059C>T c.*2377C>T (n.*2377C>T) c.2070C>T (p.Leu690=) | gnomAD v4 |
| 19 | g.40396180G>C | CA507679394 | PRX | c.2172C>G (p.Leu724=) c.1755C>G (p.Leu585=) c.2457C>G (p.Leu819=) c.2047C>G c.2033C>G c.2134C>G c.2059C>G c.*2377C>G (n.*2377C>G) c.2070C>G (p.Leu690=) | |
| 19 | g.40396180G>T | CA507679395 | PRX | c.2172C>A (p.Leu724=) c.1755C>A (p.Leu585=) c.2457C>A (p.Leu819=) c.2047C>A c.2033C>A c.2134C>A c.2059C>A c.*2377C>A (n.*2377C>A) c.2070C>A (p.Leu690=) | |
| 19 | g.40396181A>C | CA405896847 | PRX | c.2171T>G (p.Leu724Arg) c.1754T>G (p.Leu585Arg) c.2456T>G (p.Leu819Arg) c.2046T>G c.2032T>G c.2133T>G c.2058T>G c.*2376T>G (n.*2376T>G) c.2069T>G (p.Leu690Arg) | |
| 19 | g.40396181A>G | CA405896846 | PRX | c.2171T>C (p.Leu724Pro) c.1754T>C (p.Leu585Pro) c.2456T>C (p.Leu819Pro) c.2046T>C c.2032T>C c.2133T>C c.2058T>C c.*2376T>C (n.*2376T>C) c.2069T>C (p.Leu690Pro) | |
| 19 | g.40396181A>T | CA405896845 | PRX | c.2171T>A (p.Leu724His) c.1754T>A (p.Leu585His) c.2456T>A (p.Leu819His) c.2046T>A c.2032T>A c.2133T>A c.2058T>A c.*2376T>A (n.*2376T>A) c.2069T>A (p.Leu690His) | |
| 19 | g.40396182del | CA995889364 | PRX | c.2170del (p.Leu724SerfsTer4) c.1753del (p.Leu585SerfsTer4) c.2455del (p.Leu819SerfsTer4) c.2045del c.2031del c.2132del c.2057del c.*2375del (n.*2375del) c.2068del (p.Leu690SerfsTer4) | gnomAD v3 gnomAD v4 |
| 19 | g.40396182G>A | CA405896848 | PRX | c.2170C>T (p.Leu724Phe) c.1753C>T (p.Leu585Phe) c.2455C>T (p.Leu819Phe) c.2045C>T c.2031C>T c.2132C>T c.2057C>T c.*2375C>T (n.*2375C>T) c.2068C>T (p.Leu690Phe) | COSMIC |
| 19 | g.40396182G>C | CA405896849 | PRX | c.2170C>G (p.Leu724Val) c.1753C>G (p.Leu585Val) c.2455C>G (p.Leu819Val) c.2045C>G c.2031C>G c.2132C>G c.2057C>G c.*2375C>G (n.*2375C>G) c.2068C>G (p.Leu690Val) | gnomAD v4 |