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.40396214_40396215del | CA2576785599 | PRX | c.2138_2139del (p.Lys713SerfsTer3) c.1721_1722del (p.Lys574SerfsTer3) c.2423_2424del (p.Lys808SerfsTer3) c.2013_2014del c.1999_2000del c.2100_2101del c.2025_2026del c.*2343_*2344del (n.*2343_*2344del) c.2036_2037del (p.Lys679SerfsTer3) | |
| 19 | g.40396215T>A | CA405896929 | PRX | c.2137A>T (p.Lys713Ter) c.1720A>T (p.Lys574Ter) c.2422A>T (p.Lys808Ter) c.2012A>T c.1998A>T c.2099A>T c.2024A>T c.*2342A>T (n.*2342A>T) c.2035A>T (p.Lys679Ter) | |
| 19 | g.40396215T>C | CA405896930 | PRX | c.2137A>G (p.Lys713Glu) c.1720A>G (p.Lys574Glu) c.2422A>G (p.Lys808Glu) c.2012A>G c.1998A>G c.2099A>G c.2024A>G c.*2342A>G (n.*2342A>G) c.2035A>G (p.Lys679Glu) | |
| 19 | g.40396215T>G | CA405896931 | PRX | c.2137A>C (p.Lys713Gln) c.1720A>C (p.Lys574Gln) c.2422A>C (p.Lys808Gln) c.2012A>C c.1998A>C c.2099A>C c.2024A>C c.*2342A>C (n.*2342A>C) c.2035A>C (p.Lys679Gln) | |
| 19 | g.40396216G>A | CA507679440 | PRX | c.2136C>T (p.Pro712=) c.1719C>T (p.Pro573=) c.2421C>T (p.Pro807=) c.2011C>T c.1997C>T c.2098C>T c.2023C>T c.*2341C>T (n.*2341C>T) c.2034C>T (p.Pro678=) | |
| 19 | g.40396216G>C | CA9444117 | PRX | c.2136C>G (p.Pro712=) c.1719C>G (p.Pro573=) c.2421C>G (p.Pro807=) c.2011C>G c.1997C>G c.2098C>G c.2023C>G c.*2341C>G (n.*2341C>G) c.2034C>G (p.Pro678=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396216G= | CA2335961523 | PRX | c.2136C= (p.Pro712=) c.1719C= (p.Pro573=) c.2421C= (p.Pro807=) c.2011C= c.1997C= c.2098C= c.2023C= c.*2341C= (n.*2341C=) c.2034C= (p.Pro678=) | |
| 19 | g.40396216G>T | CA507679441 | PRX | c.2136C>A (p.Pro712=) c.1719C>A (p.Pro573=) c.2421C>A (p.Pro807=) c.2011C>A c.1997C>A c.2098C>A c.2023C>A c.*2341C>A (n.*2341C>A) c.2034C>A (p.Pro678=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396217G>A | CA405896932 | PRX | c.2135C>T (p.Pro712Leu) c.1718C>T (p.Pro573Leu) c.2420C>T (p.Pro807Leu) c.2010C>T c.1996C>T c.2097C>T c.2022C>T c.*2340C>T (n.*2340C>T) c.2033C>T (p.Pro678Leu) | dbSNP gnomAD v4 |
| 19 | g.40396217G>C | CA405896933 | PRX | c.2135C>G (p.Pro712Arg) c.1718C>G (p.Pro573Arg) c.2420C>G (p.Pro807Arg) c.2010C>G c.1996C>G c.2097C>G c.2022C>G c.*2340C>G (n.*2340C>G) c.2033C>G (p.Pro678Arg) | |
| 19 | g.40396217G= | CA2335961524 | PRX | c.2135C= (p.Pro712=) c.1718C= (p.Pro573=) c.2420C= (p.Pro807=) c.2010C= c.1996C= c.2097C= c.2022C= c.*2340C= (n.*2340C=) c.2033C= (p.Pro678=) | |
| 19 | g.40396217G>T | CA405896934 | PRX | c.2135C>A (p.Pro712His) c.1718C>A (p.Pro573His) c.2420C>A (p.Pro807His) c.2010C>A c.1996C>A c.2097C>A c.2022C>A c.*2340C>A (n.*2340C>A) c.2033C>A (p.Pro678His) | |
| 19 | g.40396218G>A | CA405896935 | PRX | c.2134C>T (p.Pro712Ser) c.1717C>T (p.Pro573Ser) c.2419C>T (p.Pro807Ser) c.2009C>T c.1995C>T c.2096C>T c.2021C>T c.*2339C>T (n.*2339C>T) c.2032C>T (p.Pro678Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396218G>C | CA405896937 | PRX | c.2134C>G (p.Pro712Ala) c.1717C>G (p.Pro573Ala) c.2419C>G (p.Pro807Ala) c.2009C>G c.1995C>G c.2096C>G c.2021C>G c.*2339C>G (n.*2339C>G) c.2032C>G (p.Pro678Ala) | |
| 19 | g.40396218G= | CA2335961525 | PRX | c.2134C= (p.Pro712=) c.1717C= (p.Pro573=) c.2419C= (p.Pro807=) c.2009C= c.1995C= c.2096C= c.2021C= c.*2339C= (n.*2339C=) c.2032C= (p.Pro678=) | |
| 19 | g.40396218G>T | CA405896936 | PRX | c.2134C>A (p.Pro712Thr) c.1717C>A (p.Pro573Thr) c.2419C>A (p.Pro807Thr) c.2009C>A c.1995C>A c.2096C>A c.2021C>A c.*2339C>A (n.*2339C>A) c.2032C>A (p.Pro678Thr) | |
| 19 | g.40396219C>A | CA507679443 | PRX | c.2133G>T (p.Leu711=) c.1716G>T (p.Leu572=) c.2418G>T (p.Leu806=) c.2008G>T c.1994G>T c.2095G>T c.2020G>T c.*2338G>T (n.*2338G>T) c.2031G>T (p.Leu677=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396219C= | CA2335961526 | PRX | c.2133G= (p.Leu711=) c.1716G= (p.Leu572=) c.2418G= (p.Leu806=) c.2008G= c.1994G= c.2095G= c.2020G= c.*2338G= (n.*2338G=) c.2031G= (p.Leu677=) | |
| 19 | g.40396219C>G | CA507679444 | PRX | c.2133G>C (p.Leu711=) c.1716G>C (p.Leu572=) c.2418G>C (p.Leu806=) c.2008G>C c.1994G>C c.2095G>C c.2020G>C c.*2338G>C (n.*2338G>C) c.2031G>C (p.Leu677=) | |
| 19 | g.40396219C>T | CA507679445 | PRX | c.2133G>A (p.Leu711=) c.1716G>A (p.Leu572=) c.2418G>A (p.Leu806=) c.2008G>A c.1994G>A c.2095G>A c.2020G>A c.*2338G>A (n.*2338G>A) c.2031G>A (p.Leu677=) | |
| 19 | g.40396220A>C | CA405896938 | PRX | c.2132T>G (p.Leu711Arg) c.1715T>G (p.Leu572Arg) c.2417T>G (p.Leu806Arg) c.2007T>G c.1993T>G c.2094T>G c.2019T>G c.*2337T>G (n.*2337T>G) c.2030T>G (p.Leu677Arg) | |
| 19 | g.40396220A>G | CA405896940 | PRX | c.2132T>C (p.Leu711Pro) c.1715T>C (p.Leu572Pro) c.2417T>C (p.Leu806Pro) c.2007T>C c.1993T>C c.2094T>C c.2019T>C c.*2337T>C (n.*2337T>C) c.2030T>C (p.Leu677Pro) | |
| 19 | g.40396220A>T | CA405896939 | PRX | c.2132T>A (p.Leu711Gln) c.1715T>A (p.Leu572Gln) c.2417T>A (p.Leu806Gln) c.2007T>A c.1993T>A c.2094T>A c.2019T>A c.*2337T>A (n.*2337T>A) c.2030T>A (p.Leu677Gln) | |
| 19 | g.40396221G>A | CA507679452 | PRX | c.2131C>T (p.Leu711=) c.1714C>T (p.Leu572=) c.2416C>T (p.Leu806=) c.2006C>T c.1992C>T c.2093C>T c.2018C>T c.*2336C>T (n.*2336C>T) c.2029C>T (p.Leu677=) | |
| 19 | g.40396221G>C | CA405896941 | PRX | c.2131C>G (p.Leu711Val) c.1714C>G (p.Leu572Val) c.2416C>G (p.Leu806Val) c.2006C>G c.1992C>G c.2093C>G c.2018C>G c.*2336C>G (n.*2336C>G) c.2029C>G (p.Leu677Val) | |
| 19 | g.40396221G>T | CA405896942 | PRX | c.2131C>A (p.Leu711Met) c.1714C>A (p.Leu572Met) c.2416C>A (p.Leu806Met) c.2006C>A c.1992C>A c.2093C>A c.2018C>A c.*2336C>A (n.*2336C>A) c.2029C>A (p.Leu677Met) | |
| 19 | g.40396222C>A | CA405896943 | PRX | c.2130G>T (p.Gln710His) c.1713G>T (p.Gln571His) c.2415G>T (p.Gln805His) c.2005G>T c.1991G>T c.2092G>T c.2017G>T c.*2335G>T (n.*2335G>T) c.2028G>T (p.Gln676His) | |
| 19 | g.40396222C>G | CA405896944 | PRX | c.2130G>C (p.Gln710His) c.1713G>C (p.Gln571His) c.2415G>C (p.Gln805His) c.2005G>C c.1991G>C c.2092G>C c.2017G>C c.*2335G>C (n.*2335G>C) c.2028G>C (p.Gln676His) | gnomAD v4 |
| 19 | g.40396222C>T | CA507679453 | PRX | c.2130G>A (p.Gln710=) c.1713G>A (p.Gln571=) c.2415G>A (p.Gln805=) c.2005G>A c.1991G>A c.2092G>A c.2017G>A c.*2335G>A (n.*2335G>A) c.2028G>A (p.Gln676=) | gnomAD v4 |
| 19 | g.40396223T>A | CA405896945 | PRX | c.2129A>T (p.Gln710Leu) c.1712A>T (p.Gln571Leu) c.2414A>T (p.Gln805Leu) c.2004A>T c.1990A>T c.2091A>T c.2016A>T c.*2334A>T (n.*2334A>T) c.2027A>T (p.Gln676Leu) | |
| 19 | g.40396223T>C | CA405896946 | PRX | c.2129A>G (p.Gln710Arg) c.1712A>G (p.Gln571Arg) c.2414A>G (p.Gln805Arg) c.2004A>G c.1990A>G c.2091A>G c.2016A>G c.*2334A>G (n.*2334A>G) c.2027A>G (p.Gln676Arg) | |
| 19 | g.40396223T>G | CA405896947 | PRX | c.2129A>C (p.Gln710Pro) c.1712A>C (p.Gln571Pro) c.2414A>C (p.Gln805Pro) c.2004A>C c.1990A>C c.2091A>C c.2016A>C c.*2334A>C (n.*2334A>C) c.2027A>C (p.Gln676Pro) | gnomAD v4 |
| 19 | g.40396224G>A | CA405896948 | PRX | c.2128C>T (p.Gln710Ter) c.1711C>T (p.Gln571Ter) c.2413C>T (p.Gln805Ter) c.2003C>T c.1989C>T c.2090C>T c.2015C>T c.*2333C>T (n.*2333C>T) c.2026C>T (p.Gln676Ter) | |
| 19 | g.40396224G>C | CA405896949 | PRX | c.2128C>G (p.Gln710Glu) c.1711C>G (p.Gln571Glu) c.2413C>G (p.Gln805Glu) c.2003C>G c.1989C>G c.2090C>G c.2015C>G c.*2333C>G (n.*2333C>G) c.2026C>G (p.Gln676Glu) | |
| 19 | g.40396224G>T | CA405896950 | PRX | c.2128C>A (p.Gln710Lys) c.1711C>A (p.Gln571Lys) c.2413C>A (p.Gln805Lys) c.2003C>A c.1989C>A c.2090C>A c.2015C>A c.*2333C>A (n.*2333C>A) c.2026C>A (p.Gln676Lys) | |
| 19 | g.40396225C>A | CA507679457 | PRX | c.2127G>T (p.Val709=) c.1710G>T (p.Val570=) c.2412G>T (p.Val804=) c.2002G>T c.1988G>T c.2089G>T c.2014G>T c.*2332G>T (n.*2332G>T) c.2025G>T (p.Val675=) | |
| 19 | g.40396225C= | CA2335961527 | PRX | c.2127G= (p.Val709=) c.1710G= (p.Val570=) c.2412G= (p.Val804=) c.2002G= c.1988G= c.2089G= c.2014G= c.*2332G= (n.*2332G=) c.2025G= (p.Val675=) | |
| 19 | g.40396225C>G | CA507679456 | PRX | c.2127G>C (p.Val709=) c.1710G>C (p.Val570=) c.2412G>C (p.Val804=) c.2002G>C c.1988G>C c.2089G>C c.2014G>C c.*2332G>C (n.*2332G>C) c.2025G>C (p.Val675=) | |
| 19 | g.40396225C>T | CA507679454 | PRX | c.2127G>A (p.Val709=) c.1710G>A (p.Val570=) c.2412G>A (p.Val804=) c.2002G>A c.1988G>A c.2089G>A c.2014G>A c.*2332G>A (n.*2332G>A) c.2025G>A (p.Val675=) | ClinVar dbSNP |
| 19 | g.40396226A>C | CA405896953 | PRX | c.2126T>G (p.Val709Gly) c.1709T>G (p.Val570Gly) c.2411T>G (p.Val804Gly) c.2001T>G c.1987T>G c.2088T>G c.2013T>G c.*2331T>G (n.*2331T>G) c.2024T>G (p.Val675Gly) | |
| 19 | g.40396226A>G | CA405896952 | PRX | c.2126T>C (p.Val709Ala) c.1709T>C (p.Val570Ala) c.2411T>C (p.Val804Ala) c.2001T>C c.1987T>C c.2088T>C c.2013T>C c.*2331T>C (n.*2331T>C) c.2024T>C (p.Val675Ala) | |
| 19 | g.40396226A>T | CA405896951 | PRX | c.2126T>A (p.Val709Glu) c.1709T>A (p.Val570Glu) c.2411T>A (p.Val804Glu) c.2001T>A c.1987T>A c.2088T>A c.2013T>A c.*2331T>A (n.*2331T>A) c.2024T>A (p.Val675Glu) | |
| 19 | g.40396227C>A | CA405896954 | PRX | c.2125G>T (p.Val709Leu) c.1708G>T (p.Val570Leu) c.2410G>T (p.Val804Leu) c.2000G>T c.1986G>T c.2087G>T c.2012G>T c.*2330G>T (n.*2330G>T) c.2023G>T (p.Val675Leu) | |
| 19 | g.40396227C= | CA2335961528 | PRX | c.2125G= (p.Val709=) c.1708G= (p.Val570=) c.2410G= (p.Val804=) c.2000G= c.1986G= c.2087G= c.2012G= c.*2330G= (n.*2330G=) c.2023G= (p.Val675=) | |
| 19 | g.40396227C>G | CA405896955 | PRX | c.2125G>C (p.Val709Leu) c.1708G>C (p.Val570Leu) c.2410G>C (p.Val804Leu) c.2000G>C c.1986G>C c.2087G>C c.2012G>C c.*2330G>C (n.*2330G>C) c.2023G>C (p.Val675Leu) |