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.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=) | |
| 19 | g.40396156C>T | CA507679357 | PRX | c.2196G>A (p.Val732=) c.1779G>A (p.Val593=) c.2481G>A (p.Val827=) c.2071G>A c.2057G>A c.2158G>A c.2083G>A c.*2401G>A (n.*2401G>A) c.2094G>A (p.Val698=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396157A= | CA2335961496 | PRX | c.2195T= (p.Val732=) c.1778T= (p.Val593=) c.2480T= (p.Val827=) c.2070T= c.2056T= c.2157T= c.2082T= c.*2400T= (n.*2400T=) c.2093T= (p.Val698=) | |
| 19 | g.40396157A>C | CA405896794 | PRX | c.2195T>G (p.Val732Gly) c.1778T>G (p.Val593Gly) c.2480T>G (p.Val827Gly) c.2070T>G c.2056T>G c.2157T>G c.2082T>G c.*2400T>G (n.*2400T>G) c.2093T>G (p.Val698Gly) | |
| 19 | g.40396157A>G | CA405896792 | PRX | c.2195T>C (p.Val732Ala) c.1778T>C (p.Val593Ala) c.2480T>C (p.Val827Ala) c.2070T>C c.2056T>C c.2157T>C c.2082T>C c.*2400T>C (n.*2400T>C) c.2093T>C (p.Val698Ala) | dbSNP |
| 19 | g.40396157A>T | CA405896793 | PRX | c.2195T>A (p.Val732Glu) c.1778T>A (p.Val593Glu) c.2480T>A (p.Val827Glu) c.2070T>A c.2056T>A c.2157T>A c.2082T>A c.*2400T>A (n.*2400T>A) c.2093T>A (p.Val698Glu) | gnomAD v4 |
| 19 | g.40396158C>A | CA405896795 | PRX | c.2194G>T (p.Val732Leu) c.1777G>T (p.Val593Leu) c.2479G>T (p.Val827Leu) c.2069G>T c.2055G>T c.2156G>T c.2081G>T c.*2399G>T (n.*2399G>T) c.2092G>T (p.Val698Leu) | gnomAD v4 |
| 19 | g.40396158C= | CA2335961497 | PRX | c.2194G= (p.Val732=) c.1777G= (p.Val593=) c.2479G= (p.Val827=) c.2069G= c.2055G= c.2156G= c.2081G= c.*2399G= (n.*2399G=) c.2092G= (p.Val698=) | |
| 19 | g.40396158C>G | CA405896796 | PRX | c.2194G>C (p.Val732Leu) c.1777G>C (p.Val593Leu) c.2479G>C (p.Val827Leu) c.2069G>C c.2055G>C c.2156G>C c.2081G>C c.*2399G>C (n.*2399G>C) c.2092G>C (p.Val698Leu) | |
| 19 | g.40396158C>T | CA405896797 | PRX | c.2194G>A (p.Val732Met) c.1777G>A (p.Val593Met) c.2479G>A (p.Val827Met) c.2069G>A c.2055G>A c.2156G>A c.2081G>A c.*2399G>A (n.*2399G>A) c.2092G>A (p.Val698Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.40396159C>A | CA405896798 | PRX | c.2193G>T (p.Lys731Asn) c.1776G>T (p.Lys592Asn) c.2478G>T (p.Lys826Asn) c.2068G>T c.2054G>T c.2155G>T c.2080G>T c.*2398G>T (n.*2398G>T) c.2091G>T (p.Lys697Asn) | |
| 19 | g.40396159C>G | CA405896799 | PRX | c.2193G>C (p.Lys731Asn) c.1776G>C (p.Lys592Asn) c.2478G>C (p.Lys826Asn) c.2068G>C c.2054G>C c.2155G>C c.2080G>C c.*2398G>C (n.*2398G>C) c.2091G>C (p.Lys697Asn) | |
| 19 | g.40396159C>T | CA507679361 | PRX | c.2193G>A (p.Lys731=) c.1776G>A (p.Lys592=) c.2478G>A (p.Lys826=) c.2068G>A c.2054G>A c.2155G>A c.2080G>A c.*2398G>A (n.*2398G>A) c.2091G>A (p.Lys697=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396160T>A | CA405896802 | PRX | c.2192A>T (p.Lys731Met) c.1775A>T (p.Lys592Met) c.2477A>T (p.Lys826Met) c.2067A>T c.2053A>T c.2154A>T c.2079A>T c.*2397A>T (n.*2397A>T) c.2090A>T (p.Lys697Met) | |
| 19 | g.40396160T>C | CA405896800 | PRX | c.2192A>G (p.Lys731Arg) c.1775A>G (p.Lys592Arg) c.2477A>G (p.Lys826Arg) c.2067A>G c.2053A>G c.2154A>G c.2079A>G c.*2397A>G (n.*2397A>G) c.2090A>G (p.Lys697Arg) | |
| 19 | g.40396160T>G | CA405896801 | PRX | c.2192A>C (p.Lys731Thr) c.1775A>C (p.Lys592Thr) c.2477A>C (p.Lys826Thr) c.2067A>C c.2053A>C c.2154A>C c.2079A>C c.*2397A>C (n.*2397A>C) c.2090A>C (p.Lys697Thr) | |
| 19 | g.40396160_40396161insAATCATTTTGGATTTCTTCCTT | CA2585127082 | PRX | c.2192_2193insAGGAAGAAATCCAAAATGATTA (p.Val732GlyfsTer6) c.1775_1776insAGGAAGAAATCCAAAATGATTA (p.Val593GlyfsTer6) c.2477_2478insAGGAAGAAATCCAAAATGATTA (p.Val827GlyfsTer6) c.2067_2068insAGGAAGAAATCCAAAATGATTA c.2053_2054insAGGAAGAAATCCAAAATGATTA c.2154_2155insAGGAAGAAATCCAAAATGATTA c.2079_2080insAGGAAGAAATCCAAAATGATTA c.*2397_*2398insAGGAAGAAATCCAAAATGATTA (n.*2397_*2398insAGGAAGAAATCCAAAATGATTA) c.2090_2091insAGGAAGAAATCCAAAATGATTA (p.Val698GlyfsTer6) | gnomAD v4 |
| 19 | g.40396161T>A | CA405896803 | PRX | c.2191A>T (p.Lys731Ter) c.1774A>T (p.Lys592Ter) c.2476A>T (p.Lys826Ter) c.2066A>T c.2052A>T c.2153A>T c.2078A>T c.*2396A>T (n.*2396A>T) c.2089A>T (p.Lys697Ter) | |
| 19 | g.40396161T>C | CA405896804 | PRX | c.2191A>G (p.Lys731Glu) c.1774A>G (p.Lys592Glu) c.2476A>G (p.Lys826Glu) c.2066A>G c.2052A>G c.2153A>G c.2078A>G c.*2396A>G (n.*2396A>G) c.2089A>G (p.Lys697Glu) | gnomAD v3 gnomAD v4 |
| 19 | g.40396161T>G | CA405896805 | PRX | c.2191A>C (p.Lys731Gln) c.1774A>C (p.Lys592Gln) c.2476A>C (p.Lys826Gln) c.2066A>C c.2052A>C c.2153A>C c.2078A>C c.*2396A>C (n.*2396A>C) c.2089A>C (p.Lys697Gln) | |
| 19 | g.40396162G>A | CA507679364 | PRX | c.2190C>T (p.Pro730=) c.1773C>T (p.Pro591=) c.2475C>T (p.Pro825=) c.2065C>T c.2051C>T c.2152C>T c.2077C>T c.*2395C>T (n.*2395C>T) c.2088C>T (p.Pro696=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396162G>C | CA507679365 | PRX | c.2190C>G (p.Pro730=) c.1773C>G (p.Pro591=) c.2475C>G (p.Pro825=) c.2065C>G c.2051C>G c.2152C>G c.2077C>G c.*2395C>G (n.*2395C>G) c.2088C>G (p.Pro696=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396162G= | CA2335961498 | PRX | c.2190C= (p.Pro730=) c.1773C= (p.Pro591=) c.2475C= (p.Pro825=) c.2065C= c.2051C= c.2152C= c.2077C= c.*2395C= (n.*2395C=) c.2088C= (p.Pro696=) | |
| 19 | g.40396162G>T | CA507679366 | PRX | c.2190C>A (p.Pro730=) c.1773C>A (p.Pro591=) c.2475C>A (p.Pro825=) c.2065C>A c.2051C>A c.2152C>A c.2077C>A c.*2395C>A (n.*2395C>A) c.2088C>A (p.Pro696=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396163G>A | CA405896806 | PRX | c.2189C>T (p.Pro730Leu) c.1772C>T (p.Pro591Leu) c.2474C>T (p.Pro825Leu) c.2064C>T c.2050C>T c.2151C>T c.2076C>T c.*2394C>T (n.*2394C>T) c.2087C>T (p.Pro696Leu) | dbSNP gnomAD v4 |
| 19 | g.40396163G>C | CA405896807 | PRX | c.2189C>G (p.Pro730Arg) c.1772C>G (p.Pro591Arg) c.2474C>G (p.Pro825Arg) c.2064C>G c.2050C>G c.2151C>G c.2076C>G c.*2394C>G (n.*2394C>G) c.2087C>G (p.Pro696Arg) | |
| 19 | g.40396163G= | CA2335961499 | PRX | c.2189C= (p.Pro730=) c.1772C= (p.Pro591=) c.2474C= (p.Pro825=) c.2064C= c.2050C= c.2151C= c.2076C= c.*2394C= (n.*2394C=) c.2087C= (p.Pro696=) | |
| 19 | g.40396163G>T | CA405896808 | PRX | c.2189C>A (p.Pro730His) c.1772C>A (p.Pro591His) c.2474C>A (p.Pro825His) c.2064C>A c.2050C>A c.2151C>A c.2076C>A c.*2394C>A (n.*2394C>A) c.2087C>A (p.Pro696His) | |
| 19 | g.40396164G>A | CA405896809 | PRX | c.2188C>T (p.Pro730Ser) c.1771C>T (p.Pro591Ser) c.2473C>T (p.Pro825Ser) c.2063C>T c.2049C>T c.2150C>T c.2075C>T c.*2393C>T (n.*2393C>T) c.2086C>T (p.Pro696Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396164G>C | CA405896810 | PRX | c.2188C>G (p.Pro730Ala) c.1771C>G (p.Pro591Ala) c.2473C>G (p.Pro825Ala) c.2063C>G c.2049C>G c.2150C>G c.2075C>G c.*2393C>G (n.*2393C>G) c.2086C>G (p.Pro696Ala) | |
| 19 | g.40396164G= | CA2335961500 | PRX | c.2188C= (p.Pro730=) c.1771C= (p.Pro591=) c.2473C= (p.Pro825=) c.2063C= c.2049C= c.2150C= c.2075C= c.*2393C= (n.*2393C=) c.2086C= (p.Pro696=) | |
| 19 | g.40396164G>T | CA405896811 | PRX | c.2188C>A (p.Pro730Thr) c.1771C>A (p.Pro591Thr) c.2473C>A (p.Pro825Thr) c.2063C>A c.2049C>A c.2150C>A c.2075C>A c.*2393C>A (n.*2393C>A) c.2086C>A (p.Pro696Thr) | |
| 19 | g.40396165G>A | CA507679367 | PRX | c.2187C>T (p.Leu729=) c.1770C>T (p.Leu590=) c.2472C>T (p.Leu824=) c.2062C>T c.2048C>T c.2149C>T c.2074C>T c.*2392C>T (n.*2392C>T) c.2085C>T (p.Leu695=) | |
| 19 | g.40396165G>C | CA507679368 | PRX | c.2187C>G (p.Leu729=) c.1770C>G (p.Leu590=) c.2472C>G (p.Leu824=) c.2062C>G c.2048C>G c.2149C>G c.2074C>G c.*2392C>G (n.*2392C>G) c.2085C>G (p.Leu695=) | |
| 19 | g.40396165G>T | CA507679369 | PRX | c.2187C>A (p.Leu729=) c.1770C>A (p.Leu590=) c.2472C>A (p.Leu824=) c.2062C>A c.2048C>A c.2149C>A c.2074C>A c.*2392C>A (n.*2392C>A) c.2085C>A (p.Leu695=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396166A>C | CA405896812 | PRX | c.2186T>G (p.Leu729Arg) c.1769T>G (p.Leu590Arg) c.2471T>G (p.Leu824Arg) c.2061T>G c.2047T>G c.2148T>G c.2073T>G c.*2391T>G (n.*2391T>G) c.2084T>G (p.Leu695Arg) | |
| 19 | g.40396166A>G | CA405896813 | PRX | c.2186T>C (p.Leu729Pro) c.1769T>C (p.Leu590Pro) c.2471T>C (p.Leu824Pro) c.2061T>C c.2047T>C c.2148T>C c.2073T>C c.*2391T>C (n.*2391T>C) c.2084T>C (p.Leu695Pro) | gnomAD v4 |
| 19 | g.40396166A>T | CA405896814 | PRX | c.2186T>A (p.Leu729His) c.1769T>A (p.Leu590His) c.2471T>A (p.Leu824His) c.2061T>A c.2047T>A c.2148T>A c.2073T>A c.*2391T>A (n.*2391T>A) c.2084T>A (p.Leu695His) | |
| 19 | g.40396167G>A | CA405896815 | PRX | c.2185C>T (p.Leu729Phe) c.1768C>T (p.Leu590Phe) c.2470C>T (p.Leu824Phe) c.2060C>T c.2046C>T c.2147C>T c.2072C>T c.*2390C>T (n.*2390C>T) c.2083C>T (p.Leu695Phe) | ClinVar dbSNP |