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.40396208_40396209del | CA2585127083 | PRX | c.2145_2146del (p.Cys715Ter) c.1728_1729del (p.Cys576Ter) c.2430_2431del (p.Cys810Ter) c.2020_2021del c.2006_2007del c.2107_2108del c.2032_2033del c.*2350_*2351del (n.*2350_*2351del) c.2043_2044del (p.Cys681Ter) | gnomAD v4 |
19 | g.40396207A= | CA2335961519 | PRX | c.2145T= (p.Cys715=) c.1728T= (p.Cys576=) c.2430T= (p.Cys810=) c.2020T= c.2006T= c.2107T= c.2032T= c.*2350T= (n.*2350T=) c.2043T= (p.Cys681=) | |
19 | g.40396207A>C | CA405896911 | PRX | c.2145T>G (p.Cys715Trp) c.1728T>G (p.Cys576Trp) c.2430T>G (p.Cys810Trp) c.2020T>G c.2006T>G c.2107T>G c.2032T>G c.*2350T>G (n.*2350T>G) c.2043T>G (p.Cys681Trp) | |
19 | g.40396207A>G | CA507679430 | PRX | c.2145T>C (p.Cys715=) c.1728T>C (p.Cys576=) c.2430T>C (p.Cys810=) c.2020T>C c.2006T>C c.2107T>C c.2032T>C c.*2350T>C (n.*2350T>C) c.2043T>C (p.Cys681=) | |
19 | g.40396207A>T | CA343107 | PRX | c.2145T>A (p.Cys715Ter) c.1728T>A (p.Cys576Ter) c.2430T>A (p.Cys810Ter) c.2020T>A c.2006T>A c.2107T>A c.2032T>A c.*2350T>A (n.*2350T>A) c.2043T>A (p.Cys681Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396208C>A | CA405896914 | PRX | c.2144G>T (p.Cys715Phe) c.1727G>T (p.Cys576Phe) c.2429G>T (p.Cys810Phe) c.2019G>T c.2005G>T c.2106G>T c.2031G>T c.*2349G>T (n.*2349G>T) c.2042G>T (p.Cys681Phe) | |
19 | g.40396208C= | CA2335961520 | PRX | c.2144G= (p.Cys715=) c.1727G= (p.Cys576=) c.2429G= (p.Cys810=) c.2019G= c.2005G= c.2106G= c.2031G= c.*2349G= (n.*2349G=) c.2042G= (p.Cys681=) | |
19 | g.40396208C>G | CA405896913 | PRX | c.2144G>C (p.Cys715Ser) c.1727G>C (p.Cys576Ser) c.2429G>C (p.Cys810Ser) c.2019G>C c.2005G>C c.2106G>C c.2031G>C c.*2349G>C (n.*2349G>C) c.2042G>C (p.Cys681Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40396208C>T | CA405896912 | PRX | c.2144G>A (p.Cys715Tyr) c.1727G>A (p.Cys576Tyr) c.2429G>A (p.Cys810Tyr) c.2019G>A c.2005G>A c.2106G>A c.2031G>A c.*2349G>A (n.*2349G>A) c.2042G>A (p.Cys681Tyr) | dbSNP gnomAD v4 |
19 | g.40396209A>C | CA405896915 | PRX | c.2143T>G (p.Cys715Gly) c.1726T>G (p.Cys576Gly) c.2428T>G (p.Cys810Gly) c.2018T>G c.2004T>G c.2105T>G c.2030T>G c.*2348T>G (n.*2348T>G) c.2041T>G (p.Cys681Gly) | |
19 | g.40396209A>G | CA405896916 | PRX | c.2143T>C (p.Cys715Arg) c.1726T>C (p.Cys576Arg) c.2428T>C (p.Cys810Arg) c.2018T>C c.2004T>C c.2105T>C c.2030T>C c.*2348T>C (n.*2348T>C) c.2041T>C (p.Cys681Arg) | gnomAD v3 gnomAD v4 |
19 | g.40396209A>T | CA405896917 | PRX | c.2143T>A (p.Cys715Ser) c.1726T>A (p.Cys576Ser) c.2428T>A (p.Cys810Ser) c.2018T>A c.2004T>A c.2105T>A c.2030T>A c.*2348T>A (n.*2348T>A) c.2041T>A (p.Cys681Ser) | |
19 | g.40396210G>A | CA507679433 | PRX | c.2142C>T (p.Val714=) c.1725C>T (p.Val575=) c.2427C>T (p.Val809=) c.2017C>T c.2003C>T c.2104C>T c.2029C>T c.*2347C>T (n.*2347C>T) c.2040C>T (p.Val680=) | |
19 | g.40396210G>C | CA507679432 | PRX | c.2142C>G (p.Val714=) c.1725C>G (p.Val575=) c.2427C>G (p.Val809=) c.2017C>G c.2003C>G c.2104C>G c.2029C>G c.*2347C>G (n.*2347C>G) c.2040C>G (p.Val680=) | COSMIC |
19 | g.40396210G>T | CA507679431 | PRX | c.2142C>A (p.Val714=) c.1725C>A (p.Val575=) c.2427C>A (p.Val809=) c.2017C>A c.2003C>A c.2104C>A c.2029C>A c.*2347C>A (n.*2347C>A) c.2040C>A (p.Val680=) | |
19 | g.40396211A= | CA2335961521 | PRX | c.2141T= (p.Val714=) c.1724T= (p.Val575=) c.2426T= (p.Val809=) c.2016T= c.2002T= c.2103T= c.2028T= c.*2346T= (n.*2346T=) c.2039T= (p.Val680=) | |
19 | g.40396211A>C | CA405896918 | PRX | c.2141T>G (p.Val714Gly) c.1724T>G (p.Val575Gly) c.2426T>G (p.Val809Gly) c.2016T>G c.2002T>G c.2103T>G c.2028T>G c.*2346T>G (n.*2346T>G) c.2039T>G (p.Val680Gly) | |
19 | g.40396211A>G | CA405896919 | PRX | c.2141T>C (p.Val714Ala) c.1724T>C (p.Val575Ala) c.2426T>C (p.Val809Ala) c.2016T>C c.2002T>C c.2103T>C c.2028T>C c.*2346T>C (n.*2346T>C) c.2039T>C (p.Val680Ala) | dbSNP gnomAD v4 |
19 | g.40396211A>T | CA405896920 | PRX | c.2141T>A (p.Val714Asp) c.1724T>A (p.Val575Asp) c.2426T>A (p.Val809Asp) c.2016T>A c.2002T>A c.2103T>A c.2028T>A c.*2346T>A (n.*2346T>A) c.2039T>A (p.Val680Asp) | |
19 | g.40396212del | CA2585127084 | PRX | c.2140del (p.Val714SerfsTer4) c.1723del (p.Val575SerfsTer4) c.2425del (p.Val809SerfsTer4) c.2015del c.2001del c.2102del c.2027del c.*2345del (n.*2345del) c.2038del (p.Val680SerfsTer4) | gnomAD v4 |
19 | g.40396212C>A | CA405896923 | PRX | c.2140G>T (p.Val714Phe) c.1723G>T (p.Val575Phe) c.2425G>T (p.Val809Phe) c.2015G>T c.2001G>T c.2102G>T c.2027G>T c.*2345G>T (n.*2345G>T) c.2038G>T (p.Val680Phe) | |
19 | g.40396212C>G | CA405896921 | PRX | c.2140G>C (p.Val714Leu) c.1723G>C (p.Val575Leu) c.2425G>C (p.Val809Leu) c.2015G>C c.2001G>C c.2102G>C c.2027G>C c.*2345G>C (n.*2345G>C) c.2038G>C (p.Val680Leu) | |
19 | g.40396212C>T | CA405896922 | PRX | c.2140G>A (p.Val714Ile) c.1723G>A (p.Val575Ile) c.2425G>A (p.Val809Ile) c.2015G>A c.2001G>A c.2102G>A c.2027G>A c.*2345G>A (n.*2345G>A) c.2038G>A (p.Val680Ile) | |
19 | g.40396213T>A | CA405896924 | PRX | c.2139A>T (p.Lys713Asn) c.1722A>T (p.Lys574Asn) c.2424A>T (p.Lys808Asn) c.2014A>T c.2000A>T c.2101A>T c.2026A>T c.*2344A>T (n.*2344A>T) c.2037A>T (p.Lys679Asn) | |
19 | g.40396213T>C | CA507679438 | PRX | c.2139A>G (p.Lys713=) c.1722A>G (p.Lys574=) c.2424A>G (p.Lys808=) c.2014A>G c.2000A>G c.2101A>G c.2026A>G c.*2344A>G (n.*2344A>G) c.2037A>G (p.Lys679=) | |
19 | g.40396213T>G | CA405896925 | PRX | c.2139A>C (p.Lys713Asn) c.1722A>C (p.Lys574Asn) c.2424A>C (p.Lys808Asn) c.2014A>C c.2000A>C c.2101A>C c.2026A>C c.*2344A>C (n.*2344A>C) c.2037A>C (p.Lys679Asn) | |
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.40396214T>A | CA405896926 | PRX | c.2138A>T (p.Lys713Ile) c.1721A>T (p.Lys574Ile) c.2423A>T (p.Lys808Ile) c.2013A>T c.1999A>T c.2100A>T c.2025A>T c.*2343A>T (n.*2343A>T) c.2036A>T (p.Lys679Ile) | |
19 | g.40396214T>C | CA405896927 | PRX | c.2138A>G (p.Lys713Arg) c.1721A>G (p.Lys574Arg) c.2423A>G (p.Lys808Arg) c.2013A>G c.1999A>G c.2100A>G c.2025A>G c.*2343A>G (n.*2343A>G) c.2036A>G (p.Lys679Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40396214T>G | CA405896928 | PRX | c.2138A>C (p.Lys713Thr) c.1721A>C (p.Lys574Thr) c.2423A>C (p.Lys808Thr) c.2013A>C c.1999A>C c.2100A>C c.2025A>C c.*2343A>C (n.*2343A>C) c.2036A>C (p.Lys679Thr) | |
19 | g.40396214T= | CA2335961522 | PRX | c.2138A= (p.Lys713=) c.1721A= (p.Lys574=) c.2423A= (p.Lys808=) c.2013A= c.1999A= c.2100A= c.2025A= c.*2343A= (n.*2343A=) c.2036A= (p.Lys679=) | |
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=) |