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.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=) | |
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) |