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.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 |
19 | g.40396182G>T | CA405896850 | PRX | c.2170C>A (p.Leu724Ile) c.1753C>A (p.Leu585Ile) c.2455C>A (p.Leu819Ile) c.2045C>A c.2031C>A c.2132C>A c.2057C>A c.*2375C>A (n.*2375C>A) c.2068C>A (p.Leu690Ile) | |
19 | g.40396183C>A | CA405896851 | PRX | c.2169G>T (p.Lys723Asn) c.1752G>T (p.Lys584Asn) c.2454G>T (p.Lys818Asn) c.2044G>T c.2030G>T c.2131G>T c.2056G>T c.*2374G>T (n.*2374G>T) c.2067G>T (p.Lys689Asn) | |
19 | g.40396183C= | CA2335961508 | PRX | c.2169G= (p.Lys723=) c.1752G= (p.Lys584=) c.2454G= (p.Lys818=) c.2044G= c.2030G= c.2131G= c.2056G= c.*2374G= (n.*2374G=) c.2067G= (p.Lys689=) | |
19 | g.40396183C>G | CA405896852 | PRX | c.2169G>C (p.Lys723Asn) c.1752G>C (p.Lys584Asn) c.2454G>C (p.Lys818Asn) c.2044G>C c.2030G>C c.2131G>C c.2056G>C c.*2374G>C (n.*2374G>C) c.2067G>C (p.Lys689Asn) | |
19 | g.40396183C>T | CA507679399 | PRX | c.2169G>A (p.Lys723=) c.1752G>A (p.Lys584=) c.2454G>A (p.Lys818=) c.2044G>A c.2030G>A c.2131G>A c.2056G>A c.*2374G>A (n.*2374G>A) c.2067G>A (p.Lys689=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396184T>A | CA405896855 | PRX | c.2168A>T (p.Lys723Met) c.1751A>T (p.Lys584Met) c.2453A>T (p.Lys818Met) c.2043A>T c.2029A>T c.2130A>T c.2055A>T c.*2373A>T (n.*2373A>T) c.2066A>T (p.Lys689Met) | |
19 | g.40396184T>C | CA405896854 | PRX | c.2168A>G (p.Lys723Arg) c.1751A>G (p.Lys584Arg) c.2453A>G (p.Lys818Arg) c.2043A>G c.2029A>G c.2130A>G c.2055A>G c.*2373A>G (n.*2373A>G) c.2066A>G (p.Lys689Arg) | |
19 | g.40396184T>G | CA405896853 | PRX | c.2168A>C (p.Lys723Thr) c.1751A>C (p.Lys584Thr) c.2453A>C (p.Lys818Thr) c.2043A>C c.2029A>C c.2130A>C c.2055A>C c.*2373A>C (n.*2373A>C) c.2066A>C (p.Lys689Thr) | |
19 | g.40396185T>A | CA405896856 | PRX | c.2167A>T (p.Lys723Ter) c.1750A>T (p.Lys584Ter) c.2452A>T (p.Lys818Ter) c.2042A>T c.2028A>T c.2129A>T c.2054A>T c.*2372A>T (n.*2372A>T) c.2065A>T (p.Lys689Ter) | |
19 | g.40396185T>C | CA405896857 | PRX | c.2167A>G (p.Lys723Glu) c.1750A>G (p.Lys584Glu) c.2452A>G (p.Lys818Glu) c.2042A>G c.2028A>G c.2129A>G c.2054A>G c.*2372A>G (n.*2372A>G) c.2065A>G (p.Lys689Glu) | |
19 | g.40396185T>G | CA405896858 | PRX | c.2167A>C (p.Lys723Gln) c.1750A>C (p.Lys584Gln) c.2452A>C (p.Lys818Gln) c.2042A>C c.2028A>C c.2129A>C c.2054A>C c.*2372A>C (n.*2372A>C) c.2065A>C (p.Lys689Gln) | |
19 | g.40396186C>A | CA405896859 | PRX | c.2166G>T (p.Met722Ile) c.1749G>T (p.Met583Ile) c.2451G>T (p.Met817Ile) c.2041G>T c.2027G>T c.2128G>T c.2053G>T c.*2371G>T (n.*2371G>T) c.2064G>T (p.Met688Ile) | |
19 | g.40396186C>G | CA405896860 | PRX | c.2166G>C (p.Met722Ile) c.1749G>C (p.Met583Ile) c.2451G>C (p.Met817Ile) c.2041G>C c.2027G>C c.2128G>C c.2053G>C c.*2371G>C (n.*2371G>C) c.2064G>C (p.Met688Ile) | |
19 | g.40396186C>T | CA405896861 | PRX | c.2166G>A (p.Met722Ile) c.1749G>A (p.Met583Ile) c.2451G>A (p.Met817Ile) c.2041G>A c.2027G>A c.2128G>A c.2053G>A c.*2371G>A (n.*2371G>A) c.2064G>A (p.Met688Ile) | gnomAD v4 |
19 | g.40396187A>C | CA405896862 | PRX | c.2165T>G (p.Met722Arg) c.1748T>G (p.Met583Arg) c.2450T>G (p.Met817Arg) c.2040T>G c.2026T>G c.2127T>G c.2052T>G c.*2370T>G (n.*2370T>G) c.2063T>G (p.Met688Arg) | |
19 | g.40396187A>G | CA405896864 | PRX | c.2165T>C (p.Met722Thr) c.1748T>C (p.Met583Thr) c.2450T>C (p.Met817Thr) c.2040T>C c.2026T>C c.2127T>C c.2052T>C c.*2370T>C (n.*2370T>C) c.2063T>C (p.Met688Thr) | gnomAD v4 |
19 | g.40396187A>T | CA405896863 | PRX | c.2165T>A (p.Met722Lys) c.1748T>A (p.Met583Lys) c.2450T>A (p.Met817Lys) c.2040T>A c.2026T>A c.2127T>A c.2052T>A c.*2370T>A (n.*2370T>A) c.2063T>A (p.Met688Lys) | |
19 | g.40396188T>A | CA405896865 | PRX | c.2164A>T (p.Met722Leu) c.1747A>T (p.Met583Leu) c.2449A>T (p.Met817Leu) c.2039A>T c.2025A>T c.2126A>T c.2051A>T c.*2369A>T (n.*2369A>T) c.2062A>T (p.Met688Leu) | dbSNP |
19 | g.40396188T>C | CA9444114 | PRX | c.2164A>G (p.Met722Val) c.1747A>G (p.Met583Val) c.2449A>G (p.Met817Val) c.2039A>G c.2025A>G c.2126A>G c.2051A>G c.*2369A>G (n.*2369A>G) c.2062A>G (p.Met688Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396188T>G | CA405896866 | PRX | c.2164A>C (p.Met722Leu) c.1747A>C (p.Met583Leu) c.2449A>C (p.Met817Leu) c.2039A>C c.2025A>C c.2126A>C c.2051A>C c.*2369A>C (n.*2369A>C) c.2062A>C (p.Met688Leu) | |
19 | g.40396188T= | CA2335961509 | PRX | c.2164A= (p.Met722=) c.1747A= (p.Met583=) c.2449A= (p.Met817=) c.2039A= c.2025A= c.2126A= c.2051A= c.*2369A= (n.*2369A=) c.2062A= (p.Met688=) | |
19 | g.40396189G>A | CA507679405 | PRX | c.2163C>T (p.Asp721=) c.1746C>T (p.Asp582=) c.2448C>T (p.Asp816=) c.2038C>T c.2024C>T c.2125C>T c.2050C>T c.*2368C>T (n.*2368C>T) c.2061C>T (p.Asp687=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40396189G>C | CA405896867 | PRX | c.2163C>G (p.Asp721Glu) c.1746C>G (p.Asp582Glu) c.2448C>G (p.Asp816Glu) c.2038C>G c.2024C>G c.2125C>G c.2050C>G c.*2368C>G (n.*2368C>G) c.2061C>G (p.Asp687Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396189G= | CA2335961510 | PRX | c.2163C= (p.Asp721=) c.1746C= (p.Asp582=) c.2448C= (p.Asp816=) c.2038C= c.2024C= c.2125C= c.2050C= c.*2368C= (n.*2368C=) c.2061C= (p.Asp687=) | |
19 | g.40396189G>T | CA405896868 | PRX | c.2163C>A (p.Asp721Glu) c.1746C>A (p.Asp582Glu) c.2448C>A (p.Asp816Glu) c.2038C>A c.2024C>A c.2125C>A c.2050C>A c.*2368C>A (n.*2368C>A) c.2061C>A (p.Asp687Glu) | |
19 | g.40396190T>A | CA405896869 | PRX | c.2162A>T (p.Asp721Val) c.1745A>T (p.Asp582Val) c.2447A>T (p.Asp816Val) c.2037A>T c.2023A>T c.2124A>T c.2049A>T c.*2367A>T (n.*2367A>T) c.2060A>T (p.Asp687Val) | |
19 | g.40396190T>C | CA405896870 | PRX | c.2162A>G (p.Asp721Gly) c.1745A>G (p.Asp582Gly) c.2447A>G (p.Asp816Gly) c.2037A>G c.2023A>G c.2124A>G c.2049A>G c.*2367A>G (n.*2367A>G) c.2060A>G (p.Asp687Gly) | gnomAD v3 gnomAD v4 |
19 | g.40396190T>G | CA405896871 | PRX | c.2162A>C (p.Asp721Ala) c.1745A>C (p.Asp582Ala) c.2447A>C (p.Asp816Ala) c.2037A>C c.2023A>C c.2124A>C c.2049A>C c.*2367A>C (n.*2367A>C) c.2060A>C (p.Asp687Ala) | |
19 | g.40396191C>A | CA405896872 | PRX | c.2161G>T (p.Asp721Tyr) c.1744G>T (p.Asp582Tyr) c.2446G>T (p.Asp816Tyr) c.2036G>T c.2022G>T c.2123G>T c.2048G>T c.*2366G>T (n.*2366G>T) c.2059G>T (p.Asp687Tyr) | |
19 | g.40396191C>G | CA405896873 | PRX | c.2161G>C (p.Asp721His) c.1744G>C (p.Asp582His) c.2446G>C (p.Asp816His) c.2036G>C c.2022G>C c.2123G>C c.2048G>C c.*2366G>C (n.*2366G>C) c.2059G>C (p.Asp687His) | |
19 | g.40396191C>T | CA405896874 | PRX | c.2161G>A (p.Asp721Asn) c.1744G>A (p.Asp582Asn) c.2446G>A (p.Asp816Asn) c.2036G>A c.2022G>A c.2123G>A c.2048G>A c.*2366G>A (n.*2366G>A) c.2059G>A (p.Asp687Asn) | |
19 | g.40396192A>C | CA507679407 | PRX | c.2160T>G (p.Pro720=) c.1743T>G (p.Pro581=) c.2445T>G (p.Pro815=) c.2035T>G c.2021T>G c.2122T>G c.2047T>G c.*2365T>G (n.*2365T>G) c.2058T>G (p.Pro686=) | |
19 | g.40396192A>G | CA507679408 | PRX | c.2160T>C (p.Pro720=) c.1743T>C (p.Pro581=) c.2445T>C (p.Pro815=) c.2035T>C c.2021T>C c.2122T>C c.2047T>C c.*2365T>C (n.*2365T>C) c.2058T>C (p.Pro686=) | gnomAD v4 |
19 | g.40396192A>T | CA507679409 | PRX | c.2160T>A (p.Pro720=) c.1743T>A (p.Pro581=) c.2445T>A (p.Pro815=) c.2035T>A c.2021T>A c.2122T>A c.2047T>A c.*2365T>A (n.*2365T>A) c.2058T>A (p.Pro686=) | |
19 | g.40396193G>A | CA405896875 | PRX | c.2159C>T (p.Pro720Leu) c.1742C>T (p.Pro581Leu) c.2444C>T (p.Pro815Leu) c.2034C>T c.2020C>T c.2121C>T c.2046C>T c.*2364C>T (n.*2364C>T) c.2057C>T (p.Pro686Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40396193G>C | CA405896877 | PRX | c.2159C>G (p.Pro720Arg) c.1742C>G (p.Pro581Arg) c.2444C>G (p.Pro815Arg) c.2034C>G c.2020C>G c.2121C>G c.2046C>G c.*2364C>G (n.*2364C>G) c.2057C>G (p.Pro686Arg) | dbSNP |
19 | g.40396193G= | CA2335961511 | PRX | c.2159C= (p.Pro720=) c.1742C= (p.Pro581=) c.2444C= (p.Pro815=) c.2034C= c.2020C= c.2121C= c.2046C= c.*2364C= (n.*2364C=) c.2057C= (p.Pro686=) | |
19 | g.40396193G>T | CA405896876 | PRX | c.2159C>A (p.Pro720His) c.1742C>A (p.Pro581His) c.2444C>A (p.Pro815His) c.2034C>A c.2020C>A c.2121C>A c.2046C>A c.*2364C>A (n.*2364C>A) c.2057C>A (p.Pro686His) | |
19 | g.40396194G>A | CA405896878 | PRX | c.2158C>T (p.Pro720Ser) c.1741C>T (p.Pro581Ser) c.2443C>T (p.Pro815Ser) c.2033C>T c.2019C>T c.2120C>T c.2045C>T c.*2363C>T (n.*2363C>T) c.2056C>T (p.Pro686Ser) | ClinVar dbSNP |
19 | g.40396194G>C | CA405896879 | PRX | c.2158C>G (p.Pro720Ala) c.1741C>G (p.Pro581Ala) c.2443C>G (p.Pro815Ala) c.2033C>G c.2019C>G c.2120C>G c.2045C>G c.*2363C>G (n.*2363C>G) c.2056C>G (p.Pro686Ala) | |
19 | g.40396194G= | CA2335961512 | PRX | c.2158C= (p.Pro720=) c.1741C= (p.Pro581=) c.2443C= (p.Pro815=) c.2033C= c.2019C= c.2120C= c.2045C= c.*2363C= (n.*2363C=) c.2056C= (p.Pro686=) | |
19 | g.40396194G>T | CA405896880 | PRX | c.2158C>A (p.Pro720Thr) c.1741C>A (p.Pro581Thr) c.2443C>A (p.Pro815Thr) c.2033C>A c.2019C>A c.2120C>A c.2045C>A c.*2363C>A (n.*2363C>A) c.2056C>A (p.Pro686Thr) | |
19 | g.40396195G>A | CA308419632 | PRX | c.2157C>T (p.Val719=) c.1740C>T (p.Val580=) c.2442C>T (p.Val814=) c.2032C>T c.2018C>T c.2119C>T c.2044C>T c.*2362C>T (n.*2362C>T) c.2055C>T (p.Val685=) | dbSNP |
19 | g.40396195G>C | CA507679415 | PRX | c.2157C>G (p.Val719=) c.1740C>G (p.Val580=) c.2442C>G (p.Val814=) c.2032C>G c.2018C>G c.2119C>G c.2044C>G c.*2362C>G (n.*2362C>G) c.2055C>G (p.Val685=) | |
19 | g.40396195G= | CA2335961513 | PRX | c.2157C= (p.Val719=) c.1740C= (p.Val580=) c.2442C= (p.Val814=) c.2032C= c.2018C= c.2119C= c.2044C= c.*2362C= (n.*2362C=) c.2055C= (p.Val685=) | |
19 | g.40396195G>T | CA9444115 | PRX | c.2157C>A (p.Val719=) c.1740C>A (p.Val580=) c.2442C>A (p.Val814=) c.2032C>A c.2018C>A c.2119C>A c.2044C>A c.*2362C>A (n.*2362C>A) c.2055C>A (p.Val685=) | dbSNP ExAC gnomAD v2 |
19 | g.40396196A>C | CA405896881 | PRX | c.2156T>G (p.Val719Gly) c.1739T>G (p.Val580Gly) c.2441T>G (p.Val814Gly) c.2031T>G c.2017T>G c.2118T>G c.2043T>G c.*2361T>G (n.*2361T>G) c.2054T>G (p.Val685Gly) | |
19 | g.40396196A>G | CA405896882 | PRX | c.2156T>C (p.Val719Ala) c.1739T>C (p.Val580Ala) c.2441T>C (p.Val814Ala) c.2031T>C c.2017T>C c.2118T>C c.2043T>C c.*2361T>C (n.*2361T>C) c.2054T>C (p.Val685Ala) | |
19 | g.40396196A>T | CA405896883 | PRX | c.2156T>A (p.Val719Asp) c.1739T>A (p.Val580Asp) c.2441T>A (p.Val814Asp) c.2031T>A c.2017T>A c.2118T>A c.2043T>A c.*2361T>A (n.*2361T>A) c.2054T>A (p.Val685Asp) | |
19 | g.40396196_40396197insG | CA995889386 | PRX | c.2155_2156insC (p.Val719AlafsTer3) c.1738_1739insC (p.Val580AlafsTer3) c.2440_2441insC (p.Val814AlafsTer3) c.2030_2031insC c.2016_2017insC c.2117_2118insC c.2042_2043insC c.*2360_*2361insC (n.*2360_*2361insC) c.2053_2054insC (p.Val685AlafsTer3) | gnomAD v3 gnomAD v4 |
19 | g.40396197C>A | CA405896884 | PRX | c.2155G>T (p.Val719Phe) c.1738G>T (p.Val580Phe) c.2440G>T (p.Val814Phe) c.2030G>T c.2016G>T c.2117G>T c.2042G>T c.*2360G>T (n.*2360G>T) c.2053G>T (p.Val685Phe) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40396197C= | CA2335961514 | PRX | c.2155G= (p.Val719=) c.1738G= (p.Val580=) c.2440G= (p.Val814=) c.2030G= c.2016G= c.2117G= c.2042G= c.*2360G= (n.*2360G=) c.2053G= (p.Val685=) | |
19 | g.40396197C>G | CA405896885 | PRX | c.2155G>C (p.Val719Leu) c.1738G>C (p.Val580Leu) c.2440G>C (p.Val814Leu) c.2030G>C c.2016G>C c.2117G>C c.2042G>C c.*2360G>C (n.*2360G>C) c.2053G>C (p.Val685Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40396197C>T | CA405896886 | PRX | c.2155G>A (p.Val719Ile) c.1738G>A (p.Val580Ile) c.2440G>A (p.Val814Ile) c.2030G>A c.2016G>A c.2117G>A c.2042G>A c.*2360G>A (n.*2360G>A) c.2053G>A (p.Val685Ile) | |
19 | g.40396197dup | CA2840627680 | PRX | c.2155dup (p.Val719GlyfsTer3) c.1738dup (p.Val580GlyfsTer3) c.2440dup (p.Val814GlyfsTer3) c.2030dup c.2016dup c.2117dup c.2042dup c.*2360dup (n.*2360dup) c.2053dup (p.Val685GlyfsTer3) | |
19 | g.40396198T>A | CA405896887 | PRX | c.2154A>T (p.Lys718Asn) c.1737A>T (p.Lys579Asn) c.2439A>T (p.Lys813Asn) c.2029A>T c.2015A>T c.2116A>T c.2041A>T c.*2359A>T (n.*2359A>T) c.2052A>T (p.Lys684Asn) | |
19 | g.40396198T>C | CA507679418 | PRX | c.2154A>G (p.Lys718=) c.1737A>G (p.Lys579=) c.2439A>G (p.Lys813=) c.2029A>G c.2015A>G c.2116A>G c.2041A>G c.*2359A>G (n.*2359A>G) c.2052A>G (p.Lys684=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40396198T>G | CA405896888 | PRX | c.2154A>C (p.Lys718Asn) c.1737A>C (p.Lys579Asn) c.2439A>C (p.Lys813Asn) c.2029A>C c.2015A>C c.2116A>C c.2041A>C c.*2359A>C (n.*2359A>C) c.2052A>C (p.Lys684Asn) | |
19 | g.40396199T>A | CA405896891 | PRX | c.2153A>T (p.Lys718Ile) c.1736A>T (p.Lys579Ile) c.2438A>T (p.Lys813Ile) c.2028A>T c.2014A>T c.2115A>T c.2040A>T c.*2358A>T (n.*2358A>T) c.2051A>T (p.Lys684Ile) | |
19 | g.40396199T>C | CA405896890 | PRX | c.2153A>G (p.Lys718Arg) c.1736A>G (p.Lys579Arg) c.2438A>G (p.Lys813Arg) c.2028A>G c.2014A>G c.2115A>G c.2040A>G c.*2358A>G (n.*2358A>G) c.2051A>G (p.Lys684Arg) | |
19 | g.40396199T>G | CA405896889 | PRX | c.2153A>C (p.Lys718Thr) c.1736A>C (p.Lys579Thr) c.2438A>C (p.Lys813Thr) c.2028A>C c.2014A>C c.2115A>C c.2040A>C c.*2358A>C (n.*2358A>C) c.2051A>C (p.Lys684Thr) | |
19 | g.40396200T>A | CA405896892 | PRX | c.2152A>T (p.Lys718Ter) c.1735A>T (p.Lys579Ter) c.2437A>T (p.Lys813Ter) c.2027A>T c.2013A>T c.2114A>T c.2039A>T c.*2357A>T (n.*2357A>T) c.2050A>T (p.Lys684Ter) | |
19 | g.40396200T>C | CA405896893 | PRX | c.2152A>G (p.Lys718Glu) c.1735A>G (p.Lys579Glu) c.2437A>G (p.Lys813Glu) c.2027A>G c.2013A>G c.2114A>G c.2039A>G c.*2357A>G (n.*2357A>G) c.2050A>G (p.Lys684Glu) | ClinVar dbSNP gnomAD v4 |
19 | g.40396200T>G | CA405896894 | PRX | c.2152A>C (p.Lys718Gln) c.1735A>C (p.Lys579Gln) c.2437A>C (p.Lys813Gln) c.2027A>C c.2013A>C c.2114A>C c.2039A>C c.*2357A>C (n.*2357A>C) c.2050A>C (p.Lys684Gln) | |
19 | g.40396200T= | CA2335961515 | PRX | c.2152A= (p.Lys718=) c.1735A= (p.Lys579=) c.2437A= (p.Lys813=) c.2027A= c.2013A= c.2114A= c.2039A= c.*2357A= (n.*2357A=) c.2050A= (p.Lys684=) | |
19 | g.40396201C>A | CA405896895 | PRX | c.2151G>T (p.Met717Ile) c.1734G>T (p.Met578Ile) c.2436G>T (p.Met812Ile) c.2026G>T c.2012G>T c.2113G>T c.2038G>T c.*2356G>T (n.*2356G>T) c.2049G>T (p.Met683Ile) | |
19 | g.40396201C>G | CA405896896 | PRX | c.2151G>C (p.Met717Ile) c.1734G>C (p.Met578Ile) c.2436G>C (p.Met812Ile) c.2026G>C c.2012G>C c.2113G>C c.2038G>C c.*2356G>C (n.*2356G>C) c.2049G>C (p.Met683Ile) | |
19 | g.40396201C>T | CA405896897 | PRX | c.2151G>A (p.Met717Ile) c.1734G>A (p.Met578Ile) c.2436G>A (p.Met812Ile) c.2026G>A c.2012G>A c.2113G>A c.2038G>A c.*2356G>A (n.*2356G>A) c.2049G>A (p.Met683Ile) | |
19 | g.40396202A= | CA2335961516 | PRX | c.2150T= (p.Met717=) c.1733T= (p.Met578=) c.2435T= (p.Met812=) c.2025T= c.2011T= c.2112T= c.2037T= c.*2355T= (n.*2355T=) c.2048T= (p.Met683=) | |
19 | g.40396202A>C | CA405896898 | PRX | c.2150T>G (p.Met717Arg) c.1733T>G (p.Met578Arg) c.2435T>G (p.Met812Arg) c.2025T>G c.2011T>G c.2112T>G c.2037T>G c.*2355T>G (n.*2355T>G) c.2048T>G (p.Met683Arg) | gnomAD v4 |
19 | g.40396202A>G | CA9444116 | PRX | c.2150T>C (p.Met717Thr) c.1733T>C (p.Met578Thr) c.2435T>C (p.Met812Thr) c.2025T>C c.2011T>C c.2112T>C c.2037T>C c.*2355T>C (n.*2355T>C) c.2048T>C (p.Met683Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.40396202A>T | CA405896899 | PRX | c.2150T>A (p.Met717Lys) c.1733T>A (p.Met578Lys) c.2435T>A (p.Met812Lys) c.2025T>A c.2011T>A c.2112T>A c.2037T>A c.*2355T>A (n.*2355T>A) c.2048T>A (p.Met683Lys) | |
19 | g.40396203T>A | CA405896900 | PRX | c.2149A>T (p.Met717Leu) c.1732A>T (p.Met578Leu) c.2434A>T (p.Met812Leu) c.2024A>T c.2010A>T c.2111A>T c.2036A>T c.*2354A>T (n.*2354A>T) c.2047A>T (p.Met683Leu) | |
19 | g.40396203T>C | CA405896901 | PRX | c.2149A>G (p.Met717Val) c.1732A>G (p.Met578Val) c.2434A>G (p.Met812Val) c.2024A>G c.2010A>G c.2111A>G c.2036A>G c.*2354A>G (n.*2354A>G) c.2047A>G (p.Met683Val) | gnomAD v4 |
19 | g.40396203T>G | CA405896902 | PRX | c.2149A>C (p.Met717Leu) c.1732A>C (p.Met578Leu) c.2434A>C (p.Met812Leu) c.2024A>C c.2010A>C c.2111A>C c.2036A>C c.*2354A>C (n.*2354A>C) c.2047A>C (p.Met683Leu) | |
19 | g.40396204T>A | CA405896903 | PRX | c.2148A>T (p.Glu716Asp) c.1731A>T (p.Glu577Asp) c.2433A>T (p.Glu811Asp) c.2023A>T c.2009A>T c.2110A>T c.2035A>T c.*2353A>T (n.*2353A>T) c.2046A>T (p.Glu682Asp) | |
19 | g.40396204T>C | CA507679424 | PRX | c.2148A>G (p.Glu716=) c.1731A>G (p.Glu577=) c.2433A>G (p.Glu811=) c.2023A>G c.2009A>G c.2110A>G c.2035A>G c.*2353A>G (n.*2353A>G) c.2046A>G (p.Glu682=) | gnomAD v3 gnomAD v4 |
19 | g.40396204T>G | CA405896904 | PRX | c.2148A>C (p.Glu716Asp) c.1731A>C (p.Glu577Asp) c.2433A>C (p.Glu811Asp) c.2023A>C c.2009A>C c.2110A>C c.2035A>C c.*2353A>C (n.*2353A>C) c.2046A>C (p.Glu682Asp) | gnomAD v4 |
19 | g.40396205T>A | CA405896907 | PRX | c.2147A>T (p.Glu716Val) c.1730A>T (p.Glu577Val) c.2432A>T (p.Glu811Val) c.2022A>T c.2008A>T c.2109A>T c.2034A>T c.*2352A>T (n.*2352A>T) c.2045A>T (p.Glu682Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396205T>C | CA405896906 | PRX | c.2147A>G (p.Glu716Gly) c.1730A>G (p.Glu577Gly) c.2432A>G (p.Glu811Gly) c.2022A>G c.2008A>G c.2109A>G c.2034A>G c.*2352A>G (n.*2352A>G) c.2045A>G (p.Glu682Gly) | gnomAD v4 |
19 | g.40396205T>G | CA405896905 | PRX | c.2147A>C (p.Glu716Ala) c.1730A>C (p.Glu577Ala) c.2432A>C (p.Glu811Ala) c.2022A>C c.2008A>C c.2109A>C c.2034A>C c.*2352A>C (n.*2352A>C) c.2045A>C (p.Glu682Ala) | |
19 | g.40396205T= | CA2335961517 | PRX | c.2147A= (p.Glu716=) c.1730A= (p.Glu577=) c.2432A= (p.Glu811=) c.2022A= c.2008A= c.2109A= c.2034A= c.*2352A= (n.*2352A=) c.2045A= (p.Glu682=) | |
19 | g.40396206C>A | CA405896908 | PRX | c.2146G>T (p.Glu716Ter) c.1729G>T (p.Glu577Ter) c.2431G>T (p.Glu811Ter) c.2021G>T c.2007G>T c.2108G>T c.2033G>T c.*2351G>T (n.*2351G>T) c.2044G>T (p.Glu682Ter) | |
19 | g.40396206C= | CA2335961518 | PRX | c.2146G= (p.Glu716=) c.1729G= (p.Glu577=) c.2431G= (p.Glu811=) c.2021G= c.2007G= c.2108G= c.2033G= c.*2351G= (n.*2351G=) c.2044G= (p.Glu682=) | |
19 | g.40396206C>G | CA405896909 | PRX | c.2146G>C (p.Glu716Gln) c.1729G>C (p.Glu577Gln) c.2431G>C (p.Glu811Gln) c.2021G>C c.2007G>C c.2108G>C c.2033G>C c.*2351G>C (n.*2351G>C) c.2044G>C (p.Glu682Gln) | |
19 | g.40396206C>T | CA405896910 | PRX | c.2146G>A (p.Glu716Lys) c.1729G>A (p.Glu577Lys) c.2431G>A (p.Glu811Lys) c.2021G>A c.2007G>A c.2108G>A c.2033G>A c.*2351G>A (n.*2351G>A) c.2044G>A (p.Glu682Lys) | dbSNP gnomAD v2 |
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=) | |
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.40396219del | CA2814403767 | PRX | c.2133del (p.Val714SerfsTer4) c.1716del (p.Val575SerfsTer4) c.2418del (p.Val809SerfsTer4) c.2008del c.1994del c.2095del c.2020del c.*2338del (n.*2338del) c.2031del (p.Val680SerfsTer4) | |
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) | |
19 | g.40396227C>T | CA405896956 | PRX | c.2125G>A (p.Val709Met) c.1708G>A (p.Val570Met) c.2410G>A (p.Val804Met) c.2000G>A c.1986G>A c.2087G>A c.2012G>A c.*2330G>A (n.*2330G>A) c.2023G>A (p.Val675Met) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40396228C>A | CA405896957 | PRX | c.2124G>T (p.Glu708Asp) c.1707G>T (p.Glu569Asp) c.2409G>T (p.Glu803Asp) c.1999G>T c.1985G>T c.2086G>T c.2011G>T c.*2329G>T (n.*2329G>T) c.2022G>T (p.Glu674Asp) | |
19 | g.40396228C= | CA2335961529 | PRX | c.2124G= (p.Glu708=) c.1707G= (p.Glu569=) c.2409G= (p.Glu803=) c.1999G= c.1985G= c.2086G= c.2011G= c.*2329G= (n.*2329G=) c.2022G= (p.Glu674=) | |
19 | g.40396228C>G | CA9444118 | PRX | c.2124G>C (p.Glu708Asp) c.1707G>C (p.Glu569Asp) c.2409G>C (p.Glu803Asp) c.1999G>C c.1985G>C c.2086G>C c.2011G>C c.*2329G>C (n.*2329G>C) c.2022G>C (p.Glu674Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.40396228C>T | CA507679458 | PRX | c.2124G>A (p.Glu708=) c.1707G>A (p.Glu569=) c.2409G>A (p.Glu803=) c.1999G>A c.1985G>A c.2086G>A c.2011G>A c.*2329G>A (n.*2329G>A) c.2022G>A (p.Glu674=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396229T>A | CA405896958 | PRX | c.2123A>T (p.Glu708Val) c.1706A>T (p.Glu569Val) c.2408A>T (p.Glu803Val) c.1998A>T c.1984A>T c.2085A>T c.2010A>T c.*2328A>T (n.*2328A>T) c.2021A>T (p.Glu674Val) | |
19 | g.40396229T>C | CA405896959 | PRX | c.2123A>G (p.Glu708Gly) c.1706A>G (p.Glu569Gly) c.2408A>G (p.Glu803Gly) c.1998A>G c.1984A>G c.2085A>G c.2010A>G c.*2328A>G (n.*2328A>G) c.2021A>G (p.Glu674Gly) | |
19 | g.40396229T>G | CA405896960 | PRX | c.2123A>C (p.Glu708Ala) c.1706A>C (p.Glu569Ala) c.2408A>C (p.Glu803Ala) c.1998A>C c.1984A>C c.2085A>C c.2010A>C c.*2328A>C (n.*2328A>C) c.2021A>C (p.Glu674Ala) | |
19 | g.40396258_40396521dup | CA2580097269 | PRX | c.1860_2123dup (p.Glu708_Val709insValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGlu) c.1443_1706dup (p.Glu569_Val570insValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGlu) c.2145_2408dup (p.Glu803_Val804insValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGlu) c.1735_1998dup c.1721_1984dup c.1822_2085dup c.1747_2010dup c.*2065_*2328dup (n.*2065_*2328dup) c.1758_2021dup (p.Glu674_Val675insValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGlu) | ClinVar |
19 | g.40396258_40396521del | CA995889408 | PRX | c.1860_2123del (p.Val621_Glu708del) c.1443_1706del (p.Val482_Glu569del) c.2145_2408del (p.Val716_Glu803del) c.1735_1998del c.1721_1984del c.1822_2085del c.1747_2010del c.*2065_*2328del (n.*2065_*2328del) c.1758_2021del (p.Val587_Glu674del) | gnomAD v3 gnomAD v4 |
19 | g.40396230C>A | CA405896961 | PRX | c.2122G>T (p.Glu708Ter) c.1705G>T (p.Glu569Ter) c.2407G>T (p.Glu803Ter) c.1997G>T c.1983G>T c.2084G>T c.2009G>T c.*2327G>T (n.*2327G>T) c.2020G>T (p.Glu674Ter) | |
19 | g.40396230C= | CA2335961530 | PRX | c.2122G= (p.Glu708=) c.1705G= (p.Glu569=) c.2407G= (p.Glu803=) c.1997G= c.1983G= c.2084G= c.2009G= c.*2327G= (n.*2327G=) c.2020G= (p.Glu674=) | |
19 | g.40396230C>G | CA405896962 | PRX | c.2122G>C (p.Glu708Gln) c.1705G>C (p.Glu569Gln) c.2407G>C (p.Glu803Gln) c.1997G>C c.1983G>C c.2084G>C c.2009G>C c.*2327G>C (n.*2327G>C) c.2020G>C (p.Glu674Gln) | |
19 | g.40396230C>T | CA9444119 | PRX | c.2122G>A (p.Glu708Lys) c.1705G>A (p.Glu569Lys) c.2407G>A (p.Glu803Lys) c.1997G>A c.1983G>A c.2084G>A c.2009G>A c.*2327G>A (n.*2327G>A) c.2020G>A (p.Glu674Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396231T>A | CA507679463 | PRX | c.2121A>T (p.Pro707=) c.1704A>T (p.Pro568=) c.2406A>T (p.Pro802=) c.1996A>T c.1982A>T c.2083A>T c.2008A>T c.*2326A>T (n.*2326A>T) c.2019A>T (p.Pro673=) | gnomAD v4 |
19 | g.40396231T>C | CA507679464 | PRX | c.2121A>G (p.Pro707=) c.1704A>G (p.Pro568=) c.2406A>G (p.Pro802=) c.1996A>G c.1982A>G c.2083A>G c.2008A>G c.*2326A>G (n.*2326A>G) c.2019A>G (p.Pro673=) | gnomAD v3 gnomAD v4 |
19 | g.40396231T>G | CA507679465 | PRX | c.2121A>C (p.Pro707=) c.1704A>C (p.Pro568=) c.2406A>C (p.Pro802=) c.1996A>C c.1982A>C c.2083A>C c.2008A>C c.*2326A>C (n.*2326A>C) c.2019A>C (p.Pro673=) | dbSNP |
19 | g.40396231T= | CA2335961532 | PRX | c.2121A= (p.Pro707=) c.1704A= (p.Pro568=) c.2406A= (p.Pro802=) c.1996A= c.1982A= c.2083A= c.2008A= c.*2326A= (n.*2326A=) c.2019A= (p.Pro673=) | |
19 | g.40396231_40396309delinsTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCG | CA2335961531 | PRX | c.2043_2121delinsCGAGGTGCAGCTGCCAAAAGTCTCAGAGATGAAACTCCCCAAGGTGCCTGAAATGGCCGTGCCCGATGTGCACCTCCCA (p.Pro681=) c.1626_1704delinsCGAGGTGCAGCTGCCAAAAGTCTCAGAGATGAAACTCCCCAAGGTGCCTGAAATGGCCGTGCCCGATGTGCACCTCCCA (p.Pro542=) c.2328_2406delinsCGAGGTGCAGCTGCCAAAAGTCTCAGAGATGAAACTCCCCAAGGTGCCTGAAATGGCCGTGCCCGATGTGCACCTCCCA (p.Pro776=) c.1918_1996delinsCGAGGTGCAGCTGCCAAAAGTCTCAGAGATGAAACTCCCCAAGGTGCCTGAAATGGCCGTGCCCGATGTGCACCTCCCA c.1904_1982delinsCGAGGTGCAGCTGCCAAAAGTCTCAGAGATGAAACTCCCCAAGGTGCCTGAAATGGCCGTGCCCGATGTGCACCTCCCA c.2005_2083delinsCGAGGTGCAGCTGCCAAAAGTCTCAGAGATGAAACTCCCCAAGGTGCCTGAAATGGCCGTGCCCGATGTGCACCTCCCA c.1930_2008delinsCGAGGTGCAGCTGCCAAAAGTCTCAGAGATGAAACTCCCCAAGGTGCCTGAAATGGCCGTGCCCGATGTGCACCTCCCA c.*2248_*2326delinsCGAGGTGCAGCTGCCAAAAGTCTCAGAGATGAAACTCCCCAAGGTGCCTGAAATGGCCGTGCCCGATGTGCACCTCCCA (n.*2248_*2326delinsCGAGGTGCAGCTGCCAAAAGTCTCAGAGATGAAACTCCCCAAGGTGCCTGAAATGGCCGTGCCCGATGTGCACCTCCCA) c.1941_2019delinsCGAGGTGCAGCTGCCAAAAGTCTCAGAGATGAAACTCCCCAAGGTGCCTGAAATGGCCGTGCCCGATGTGCACCTCCCA (p.Pro647=) | |
19 | g.40396232G>A | CA405896964 | PRX | c.2120C>T (p.Pro707Leu) c.1703C>T (p.Pro568Leu) c.2405C>T (p.Pro802Leu) c.1995C>T c.1981C>T c.2082C>T c.2007C>T c.*2325C>T (n.*2325C>T) c.2018C>T (p.Pro673Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40396232G>C | CA405896965 | PRX | c.2120C>G (p.Pro707Arg) c.1703C>G (p.Pro568Arg) c.2405C>G (p.Pro802Arg) c.1995C>G c.1981C>G c.2082C>G c.2007C>G c.*2325C>G (n.*2325C>G) c.2018C>G (p.Pro673Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.40396232G= | CA2335961533 | PRX | c.2120C= (p.Pro707=) c.1703C= (p.Pro568=) c.2405C= (p.Pro802=) c.1995C= c.1981C= c.2082C= c.2007C= c.*2325C= (n.*2325C=) c.2018C= (p.Pro673=) | |
19 | g.40396232G>T | CA405896963 | PRX | c.2120C>A (p.Pro707Gln) c.1703C>A (p.Pro568Gln) c.2405C>A (p.Pro802Gln) c.1995C>A c.1981C>A c.2082C>A c.2007C>A c.*2325C>A (n.*2325C>A) c.2018C>A (p.Pro673Gln) | |
19 | g.40396237_40396314del | CA995889431 | PRX | c.2043_2120del (p.Glu682_Pro707del) c.1626_1703del (p.Glu543_Pro568del) c.2328_2405del (p.Glu777_Pro802del) c.1918_1995del c.1904_1981del c.2005_2082del c.1930_2007del c.*2248_*2325del (n.*2248_*2325del) c.1941_2018del (p.Glu648_Pro673del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40396252_40396407del | CA995889434 | PRX | c.1965_2120del (p.Glu656_Pro707del) c.1548_1703del (p.Glu517_Pro568del) c.2250_2405del (p.Glu751_Pro802del) c.1840_1995del c.1826_1981del c.1927_2082del c.1852_2007del c.*2170_*2325del (n.*2170_*2325del) c.1863_2018del (p.Glu622_Pro673del) | gnomAD v3 gnomAD v4 |
19 | g.40396233G>A | CA405896966 | PRX | c.2119C>T (p.Pro707Ser) c.1702C>T (p.Pro568Ser) c.2404C>T (p.Pro802Ser) c.1994C>T c.1980C>T c.2081C>T c.2006C>T c.*2324C>T (n.*2324C>T) c.2017C>T (p.Pro673Ser) | |
19 | g.40396233G>C | CA405896967 | PRX | c.2119C>G (p.Pro707Ala) c.1702C>G (p.Pro568Ala) c.2404C>G (p.Pro802Ala) c.1994C>G c.1980C>G c.2081C>G c.2006C>G c.*2324C>G (n.*2324C>G) c.2017C>G (p.Pro673Ala) | |
19 | g.40396233G>T | CA405896968 | PRX | c.2119C>A (p.Pro707Thr) c.1702C>A (p.Pro568Thr) c.2404C>A (p.Pro802Thr) c.1994C>A c.1980C>A c.2081C>A c.2006C>A c.*2324C>A (n.*2324C>A) c.2017C>A (p.Pro673Thr) | |
19 | g.40396234G>A | CA507679472 | PRX | c.2118C>T (p.Leu706=) c.1701C>T (p.Leu567=) c.2403C>T (p.Leu801=) c.1993C>T c.1979C>T c.2080C>T c.2005C>T c.*2323C>T (n.*2323C>T) c.2016C>T (p.Leu672=) | gnomAD v3 gnomAD v4 COSMIC |
19 | g.40396234G>C | CA507679473 | PRX | c.2118C>G (p.Leu706=) c.1701C>G (p.Leu567=) c.2403C>G (p.Leu801=) c.1993C>G c.1979C>G c.2080C>G c.2005C>G c.*2323C>G (n.*2323C>G) c.2016C>G (p.Leu672=) | |
19 | g.40396234G>T | CA507679474 | PRX | c.2118C>A (p.Leu706=) c.1701C>A (p.Leu567=) c.2403C>A (p.Leu801=) c.1993C>A c.1979C>A c.2080C>A c.2005C>A c.*2323C>A (n.*2323C>A) c.2016C>A (p.Leu672=) | |
19 | g.40396235A>C | CA405896969 | PRX | c.2117T>G (p.Leu706Arg) c.1700T>G (p.Leu567Arg) c.2402T>G (p.Leu801Arg) c.1992T>G c.1978T>G c.2079T>G c.2004T>G c.*2322T>G (n.*2322T>G) c.2015T>G (p.Leu672Arg) | |
19 | g.40396235A>G | CA405896970 | PRX | c.2117T>C (p.Leu706Pro) c.1700T>C (p.Leu567Pro) c.2402T>C (p.Leu801Pro) c.1992T>C c.1978T>C c.2079T>C c.2004T>C c.*2322T>C (n.*2322T>C) c.2015T>C (p.Leu672Pro) | |
19 | g.40396235A>T | CA405896971 | PRX | c.2117T>A (p.Leu706His) c.1700T>A (p.Leu567His) c.2402T>A (p.Leu801His) c.1992T>A c.1978T>A c.2079T>A c.2004T>A c.*2322T>A (n.*2322T>A) c.2015T>A (p.Leu672His) | |
19 | g.40396236G>A | CA405896972 | PRX | c.2116C>T (p.Leu706Phe) c.1699C>T (p.Leu567Phe) c.2401C>T (p.Leu801Phe) c.1991C>T c.1977C>T c.2078C>T c.2003C>T c.*2321C>T (n.*2321C>T) c.2014C>T (p.Leu672Phe) | dbSNP |
19 | g.40396236G>C | CA405896973 | PRX | c.2116C>G (p.Leu706Val) c.1699C>G (p.Leu567Val) c.2401C>G (p.Leu801Val) c.1991C>G c.1977C>G c.2078C>G c.2003C>G c.*2321C>G (n.*2321C>G) c.2014C>G (p.Leu672Val) | |
19 | g.40396236G>T | CA405896974 | PRX | c.2116C>A (p.Leu706Ile) c.1699C>A (p.Leu567Ile) c.2401C>A (p.Leu801Ile) c.1991C>A c.1977C>A c.2078C>A c.2003C>A c.*2321C>A (n.*2321C>A) c.2014C>A (p.Leu672Ile) | |
19 | g.40396237G>A | CA9444120 | PRX | c.2115C>T (p.His705=) c.1698C>T (p.His566=) c.2400C>T (p.His800=) c.1990C>T c.1976C>T c.2077C>T c.2002C>T c.*2320C>T (n.*2320C>T) c.2013C>T (p.His671=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.40396237G>C | CA308419658 | PRX | c.2115C>G (p.His705Gln) c.1698C>G (p.His566Gln) c.2400C>G (p.His800Gln) c.1990C>G c.1976C>G c.2077C>G c.2002C>G c.*2320C>G (n.*2320C>G) c.2013C>G (p.His671Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.40396237G= | CA2335961534 | PRX | c.2115C= (p.His705=) c.1698C= (p.His566=) c.2400C= (p.His800=) c.1990C= c.1976C= c.2077C= c.2002C= c.*2320C= (n.*2320C=) c.2013C= (p.His671=) | |
19 | g.40396237G>T | CA405896975 | PRX | c.2115C>A (p.His705Gln) c.1698C>A (p.His566Gln) c.2400C>A (p.His800Gln) c.1990C>A c.1976C>A c.2077C>A c.2002C>A c.*2320C>A (n.*2320C>A) c.2013C>A (p.His671Gln) | |
19 | g.40396238T>A | CA405896977 | PRX | c.2114A>T (p.His705Leu) c.1697A>T (p.His566Leu) c.2399A>T (p.His800Leu) c.1989A>T c.1975A>T c.2076A>T c.2001A>T c.*2319A>T (n.*2319A>T) c.2012A>T (p.His671Leu) | |
19 | g.40396238T>C | CA405896978 | PRX | c.2114A>G (p.His705Arg) c.1697A>G (p.His566Arg) c.2399A>G (p.His800Arg) c.1989A>G c.1975A>G c.2076A>G c.2001A>G c.*2319A>G (n.*2319A>G) c.2012A>G (p.His671Arg) | gnomAD v4 |
19 | g.40396238T>G | CA405896976 | PRX | c.2114A>C (p.His705Pro) c.1697A>C (p.His566Pro) c.2399A>C (p.His800Pro) c.1989A>C c.1975A>C c.2076A>C c.2001A>C c.*2319A>C (n.*2319A>C) c.2012A>C (p.His671Pro) | |
19 | g.40396239G>A | CA405896979 | PRX | c.2113C>T (p.His705Tyr) c.1696C>T (p.His566Tyr) c.2398C>T (p.His800Tyr) c.1988C>T c.1974C>T c.2075C>T c.2000C>T c.*2318C>T (n.*2318C>T) c.2011C>T (p.His671Tyr) | ClinVar dbSNP |
19 | g.40396239G>C | CA405896980 | PRX | c.2113C>G (p.His705Asp) c.1696C>G (p.His566Asp) c.2398C>G (p.His800Asp) c.1988C>G c.1974C>G c.2075C>G c.2000C>G c.*2318C>G (n.*2318C>G) c.2011C>G (p.His671Asp) | |
19 | g.40396239G= | CA2335961535 | PRX | c.2113C= (p.His705=) c.1696C= (p.His566=) c.2398C= (p.His800=) c.1988C= c.1974C= c.2075C= c.2000C= c.*2318C= (n.*2318C=) c.2011C= (p.His671=) | |
19 | g.40396239G>T | CA405896981 | PRX | c.2113C>A (p.His705Asn) c.1696C>A (p.His566Asn) c.2398C>A (p.His800Asn) c.1988C>A c.1974C>A c.2075C>A c.2000C>A c.*2318C>A (n.*2318C>A) c.2011C>A (p.His671Asn) | |
19 | g.40396240C>A | CA507679477 | PRX | c.2112G>T (p.Val704=) c.1695G>T (p.Val565=) c.2397G>T (p.Val799=) c.1987G>T c.1973G>T c.2074G>T c.1999G>T c.*2317G>T (n.*2317G>T) c.2010G>T (p.Val670=) | |
19 | g.40396240C= | CA2335961536 | PRX | c.2112G= (p.Val704=) c.1695G= (p.Val565=) c.2397G= (p.Val799=) c.1987G= c.1973G= c.2074G= c.1999G= c.*2317G= (n.*2317G=) c.2010G= (p.Val670=) | |
19 | g.40396240C>G | CA507679478 | PRX | c.2112G>C (p.Val704=) c.1695G>C (p.Val565=) c.2397G>C (p.Val799=) c.1987G>C c.1973G>C c.2074G>C c.1999G>C c.*2317G>C (n.*2317G>C) c.2010G>C (p.Val670=) | |
19 | g.40396240C>T | CA507679479 | PRX | c.2112G>A (p.Val704=) c.1695G>A (p.Val565=) c.2397G>A (p.Val799=) c.1987G>A c.1973G>A c.2074G>A c.1999G>A c.*2317G>A (n.*2317G>A) c.2010G>A (p.Val670=) | dbSNP gnomAD v4 |
19 | g.40396241A>C | CA405896982 | PRX | c.2111T>G (p.Val704Gly) c.1694T>G (p.Val565Gly) c.2396T>G (p.Val799Gly) c.1986T>G c.1972T>G c.2073T>G c.1998T>G c.*2316T>G (n.*2316T>G) c.2009T>G (p.Val670Gly) | |
19 | g.40396241A>G | CA405896983 | PRX | c.2111T>C (p.Val704Ala) c.1694T>C (p.Val565Ala) c.2396T>C (p.Val799Ala) c.1986T>C c.1972T>C c.2073T>C c.1998T>C c.*2316T>C (n.*2316T>C) c.2009T>C (p.Val670Ala) | |
19 | g.40396241A>T | CA405896984 | PRX | c.2111T>A (p.Val704Glu) c.1694T>A (p.Val565Glu) c.2396T>A (p.Val799Glu) c.1986T>A c.1972T>A c.2073T>A c.1998T>A c.*2316T>A (n.*2316T>A) c.2009T>A (p.Val670Glu) | |
19 | g.40396242C>A | CA405896985 | PRX | c.2110G>T (p.Val704Leu) c.1693G>T (p.Val565Leu) c.2395G>T (p.Val799Leu) c.1985G>T c.1971G>T c.2072G>T c.1997G>T c.*2315G>T (n.*2315G>T) c.2008G>T (p.Val670Leu) | |
19 | g.40396242C>G | CA405896987 | PRX | c.2110G>C (p.Val704Leu) c.1693G>C (p.Val565Leu) c.2395G>C (p.Val799Leu) c.1985G>C c.1971G>C c.2072G>C c.1997G>C c.*2315G>C (n.*2315G>C) c.2008G>C (p.Val670Leu) | |
19 | g.40396242C>T | CA405896986 | PRX | c.2110G>A (p.Val704Met) c.1693G>A (p.Val565Met) c.2395G>A (p.Val799Met) c.1985G>A c.1971G>A c.2072G>A c.1997G>A c.*2315G>A (n.*2315G>A) c.2008G>A (p.Val670Met) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40396243A>C | CA405896988 | PRX | c.2109T>G (p.Asp703Glu) c.1692T>G (p.Asp564Glu) c.2394T>G (p.Asp798Glu) c.1984T>G c.1970T>G c.2071T>G c.1996T>G c.*2314T>G (n.*2314T>G) c.2007T>G (p.Asp669Glu) | |
19 | g.40396243A>G | CA507679483 | PRX | c.2109T>C (p.Asp703=) c.1692T>C (p.Asp564=) c.2394T>C (p.Asp798=) c.1984T>C c.1970T>C c.2071T>C c.1996T>C c.*2314T>C (n.*2314T>C) c.2007T>C (p.Asp669=) | gnomAD v3 gnomAD v4 |
19 | g.40396243A>T | CA405896989 | PRX | c.2109T>A (p.Asp703Glu) c.1692T>A (p.Asp564Glu) c.2394T>A (p.Asp798Glu) c.1984T>A c.1970T>A c.2071T>A c.1996T>A c.*2314T>A (n.*2314T>A) c.2007T>A (p.Asp669Glu) | |
19 | g.40396244T>A | CA405896990 | PRX | c.2108A>T (p.Asp703Val) c.1691A>T (p.Asp564Val) c.2393A>T (p.Asp798Val) c.1983A>T c.1969A>T c.2070A>T c.1995A>T c.*2313A>T (n.*2313A>T) c.2006A>T (p.Asp669Val) | |
19 | g.40396244T>C | CA405896991 | PRX | c.2108A>G (p.Asp703Gly) c.1691A>G (p.Asp564Gly) c.2393A>G (p.Asp798Gly) c.1983A>G c.1969A>G c.2070A>G c.1995A>G c.*2313A>G (n.*2313A>G) c.2006A>G (p.Asp669Gly) | |
19 | g.40396244T>G | CA405896992 | PRX | c.2108A>C (p.Asp703Ala) c.1691A>C (p.Asp564Ala) c.2393A>C (p.Asp798Ala) c.1983A>C c.1969A>C c.2070A>C c.1995A>C c.*2313A>C (n.*2313A>C) c.2006A>C (p.Asp669Ala) | |
19 | g.40396245C>A | CA405896994 | PRX | c.2107G>T (p.Asp703Tyr) c.1690G>T (p.Asp564Tyr) c.2392G>T (p.Asp798Tyr) c.1982G>T c.1968G>T c.2069G>T c.1994G>T c.*2312G>T (n.*2312G>T) c.2005G>T (p.Asp669Tyr) | |
19 | g.40396245C= | CA2335961537 | PRX | c.2107G= (p.Asp703=) c.1690G= (p.Asp564=) c.2392G= (p.Asp798=) c.1982G= c.1968G= c.2069G= c.1994G= c.*2312G= (n.*2312G=) c.2005G= (p.Asp669=) | |
19 | g.40396245C>G | CA9444121 | PRX | c.2107G>C (p.Asp703His) c.1690G>C (p.Asp564His) c.2392G>C (p.Asp798His) c.1982G>C c.1968G>C c.2069G>C c.1994G>C c.*2312G>C (n.*2312G>C) c.2005G>C (p.Asp669His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.40396245C>T | CA405896993 | PRX | c.2107G>A (p.Asp703Asn) c.1690G>A (p.Asp564Asn) c.2392G>A (p.Asp798Asn) c.1982G>A c.1968G>A c.2069G>A c.1994G>A c.*2312G>A (n.*2312G>A) c.2005G>A (p.Asp669Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.40396245_40396246insA | CA308419665 | PRX | c.2106_2107insT (p.Asp703Ter) c.1689_1690insT (p.Asp564Ter) c.2391_2392insT (p.Asp798Ter) c.1981_1982insT c.1967_1968insT c.2068_2069insT c.1993_1994insT c.*2311_*2312insT (n.*2311_*2312insT) c.2004_2005insT (p.Asp669Ter) | dbSNP |
19 | g.40396246G>A | CA9444122 | PRX | c.2106C>T (p.Pro702=) c.1689C>T (p.Pro563=) c.2391C>T (p.Pro797=) c.1981C>T c.1967C>T c.2068C>T c.1993C>T c.*2311C>T (n.*2311C>T) c.2004C>T (p.Pro668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396246G>C | CA507679485 | PRX | c.2106C>G (p.Pro702=) c.1689C>G (p.Pro563=) c.2391C>G (p.Pro797=) c.1981C>G c.1967C>G c.2068C>G c.1993C>G c.*2311C>G (n.*2311C>G) c.2004C>G (p.Pro668=) | ClinVar dbSNP |
19 | g.40396246G= | CA2335961538 | PRX | c.2106C= (p.Pro702=) c.1689C= (p.Pro563=) c.2391C= (p.Pro797=) c.1981C= c.1967C= c.2068C= c.1993C= c.*2311C= (n.*2311C=) c.2004C= (p.Pro668=) | |
19 | g.40396246G>T | CA507679484 | PRX | c.2106C>A (p.Pro702=) c.1689C>A (p.Pro563=) c.2391C>A (p.Pro797=) c.1981C>A c.1967C>A c.2068C>A c.1993C>A c.*2311C>A (n.*2311C>A) c.2004C>A (p.Pro668=) | gnomAD v3 gnomAD v4 |
19 | g.40396248del | CA2548563499 | PRX | c.2106del (p.Asp703MetfsTer15) c.1689del (p.Asp564MetfsTer15) c.2391del (p.Asp798MetfsTer15) c.1981del c.1967del c.2068del c.1993del c.*2311del (n.*2311del) c.2004del (p.Asp669MetfsTer15) | |
19 | g.40396247G>A | CA405896997 | PRX | c.2105C>T (p.Pro702Leu) c.1688C>T (p.Pro563Leu) c.2390C>T (p.Pro797Leu) c.1980C>T c.1966C>T c.2067C>T c.1992C>T c.*2310C>T (n.*2310C>T) c.2003C>T (p.Pro668Leu) | dbSNP COSMIC |
19 | g.40396247G>C | CA405896995 | PRX | c.2105C>G (p.Pro702Arg) c.1688C>G (p.Pro563Arg) c.2390C>G (p.Pro797Arg) c.1980C>G c.1966C>G c.2067C>G c.1992C>G c.*2310C>G (n.*2310C>G) c.2003C>G (p.Pro668Arg) | |
19 | g.40396247G>T | CA405896996 | PRX | c.2105C>A (p.Pro702His) c.1688C>A (p.Pro563His) c.2390C>A (p.Pro797His) c.1980C>A c.1966C>A c.2067C>A c.1992C>A c.*2310C>A (n.*2310C>A) c.2003C>A (p.Pro668His) | |
19 | g.40396248G>A | CA405896998 | PRX | c.2104C>T (p.Pro702Ser) c.1687C>T (p.Pro563Ser) c.2389C>T (p.Pro797Ser) c.1979C>T c.1965C>T c.2066C>T c.1991C>T c.*2309C>T (n.*2309C>T) c.2002C>T (p.Pro668Ser) | gnomAD v4 |
19 | g.40396248G>C | CA405896999 | PRX | c.2104C>G (p.Pro702Ala) c.1687C>G (p.Pro563Ala) c.2389C>G (p.Pro797Ala) c.1979C>G c.1965C>G c.2066C>G c.1991C>G c.*2309C>G (n.*2309C>G) c.2002C>G (p.Pro668Ala) | |
19 | g.40396248G>T | CA405897000 | PRX | c.2104C>A (p.Pro702Thr) c.1687C>A (p.Pro563Thr) c.2389C>A (p.Pro797Thr) c.1979C>A c.1965C>A c.2066C>A c.1991C>A c.*2309C>A (n.*2309C>A) c.2002C>A (p.Pro668Thr) | |
19 | g.40396249C>A | CA507679487 | PRX | c.2103G>T (p.Val701=) c.1686G>T (p.Val562=) c.2388G>T (p.Val796=) c.1978G>T c.1964G>T c.2065G>T c.1990G>T c.*2308G>T (n.*2308G>T) c.2001G>T (p.Val667=) | |
19 | g.40396249C>G | CA507679488 | PRX | c.2103G>C (p.Val701=) c.1686G>C (p.Val562=) c.2388G>C (p.Val796=) c.1978G>C c.1964G>C c.2065G>C c.1990G>C c.*2308G>C (n.*2308G>C) c.2001G>C (p.Val667=) | |
19 | g.40396249C>T | CA507679489 | PRX | c.2103G>A (p.Val701=) c.1686G>A (p.Val562=) c.2388G>A (p.Val796=) c.1978G>A c.1964G>A c.2065G>A c.1990G>A c.*2308G>A (n.*2308G>A) c.2001G>A (p.Val667=) | |
19 | g.40396250A>C | CA405897001 | PRX | c.2102T>G (p.Val701Gly) c.1685T>G (p.Val562Gly) c.2387T>G (p.Val796Gly) c.1977T>G c.1963T>G c.2064T>G c.1989T>G c.*2307T>G (n.*2307T>G) c.2000T>G (p.Val667Gly) | |
19 | g.40396250A>G | CA405897002 | PRX | c.2102T>C (p.Val701Ala) c.1685T>C (p.Val562Ala) c.2387T>C (p.Val796Ala) c.1977T>C c.1963T>C c.2064T>C c.1989T>C c.*2307T>C (n.*2307T>C) c.2000T>C (p.Val667Ala) | |
19 | g.40396250A>T | CA405897003 | PRX | c.2102T>A (p.Val701Glu) c.1685T>A (p.Val562Glu) c.2387T>A (p.Val796Glu) c.1977T>A c.1963T>A c.2064T>A c.1989T>A c.*2307T>A (n.*2307T>A) c.2000T>A (p.Val667Glu) | |
19 | g.40396251C>A | CA405897004 | PRX | c.2101G>T (p.Val701Leu) c.1684G>T (p.Val562Leu) c.2386G>T (p.Val796Leu) c.1976G>T c.1962G>T c.2063G>T c.1988G>T c.*2306G>T (n.*2306G>T) c.1999G>T (p.Val667Leu) | |
19 | g.40396251C= | CA2335961539 | PRX | c.2101G= (p.Val701=) c.1684G= (p.Val562=) c.2386G= (p.Val796=) c.1976G= c.1962G= c.2063G= c.1988G= c.*2306G= (n.*2306G=) c.1999G= (p.Val667=) | |
19 | g.40396251C>G | CA405897005 | PRX | c.2101G>C (p.Val701Leu) c.1684G>C (p.Val562Leu) c.2386G>C (p.Val796Leu) c.1976G>C c.1962G>C c.2063G>C c.1988G>C c.*2306G>C (n.*2306G>C) c.1999G>C (p.Val667Leu) | |
19 | g.40396251C>T | CA9444123 | PRX | c.2101G>A (p.Val701Met) c.1684G>A (p.Val562Met) c.2386G>A (p.Val796Met) c.1976G>A c.1962G>A c.2063G>A c.1988G>A c.*2306G>A (n.*2306G>A) c.1999G>A (p.Val667Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396252G>A | CA9444124 | PRX | c.2100C>T (p.Ala700=) c.1683C>T (p.Ala561=) c.2385C>T (p.Ala795=) c.1975C>T c.1961C>T c.2062C>T c.1987C>T c.*2305C>T (n.*2305C>T) c.1998C>T (p.Ala666=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396252G>C | CA507679492 | PRX | c.2100C>G (p.Ala700=) c.1683C>G (p.Ala561=) c.2385C>G (p.Ala795=) c.1975C>G c.1961C>G c.2062C>G c.1987C>G c.*2305C>G (n.*2305C>G) c.1998C>G (p.Ala666=) | |
19 | g.40396252G= | CA2335961540 | PRX | c.2100C= (p.Ala700=) c.1683C= (p.Ala561=) c.2385C= (p.Ala795=) c.1975C= c.1961C= c.2062C= c.1987C= c.*2305C= (n.*2305C=) c.1998C= (p.Ala666=) | |
19 | g.40396252G>T | CA507679491 | PRX | c.2100C>A (p.Ala700=) c.1683C>A (p.Ala561=) c.2385C>A (p.Ala795=) c.1975C>A c.1961C>A c.2062C>A c.1987C>A c.*2305C>A (n.*2305C>A) c.1998C>A (p.Ala666=) | |
19 | g.40396253G>A | CA405897006 | PRX | c.2099C>T (p.Ala700Val) c.1682C>T (p.Ala561Val) c.2384C>T (p.Ala795Val) c.1974C>T c.1960C>T c.2061C>T c.1986C>T c.*2304C>T (n.*2304C>T) c.1997C>T (p.Ala666Val) | COSMIC |
19 | g.40396253G>C | CA405897007 | PRX | c.2099C>G (p.Ala700Gly) c.1682C>G (p.Ala561Gly) c.2384C>G (p.Ala795Gly) c.1974C>G c.1960C>G c.2061C>G c.1986C>G c.*2304C>G (n.*2304C>G) c.1997C>G (p.Ala666Gly) | |
19 | g.40396253G>T | CA405897008 | PRX | c.2099C>A (p.Ala700Asp) c.1682C>A (p.Ala561Asp) c.2384C>A (p.Ala795Asp) c.1974C>A c.1960C>A c.2061C>A c.1986C>A c.*2304C>A (n.*2304C>A) c.1997C>A (p.Ala666Asp) | |
19 | g.40396253_40396254delinsGC | CA2335961541 | PRX | c.2098_2099delinsGC (p.Ala700=) c.1681_1682delinsGC (p.Ala561=) c.2383_2384delinsGC (p.Ala795=) c.1973_1974delinsGC c.1959_1960delinsGC c.2060_2061delinsGC c.1985_1986delinsGC c.*2303_*2304delinsGC (n.*2303_*2304delinsGC) c.1996_1997delinsGC (p.Ala666=) | |
19 | g.40396258_40396413del | CA995889466 | PRX | c.1944_2099del (p.Val649_Ala700del) c.1527_1682del (p.Val510_Ala561del) c.2229_2384del (p.Val744_Ala795del) c.1819_1974del c.1805_1960del c.1906_2061del c.1831_1986del c.*2149_*2304del (n.*2149_*2304del) c.1842_1997del (p.Val615_Ala666del) | gnomAD v3 gnomAD v4 |
19 | g.40396254C>A | CA405897009 | PRX | c.2098G>T (p.Ala700Ser) c.1681G>T (p.Ala561Ser) c.2383G>T (p.Ala795Ser) c.1973G>T c.1959G>T c.2060G>T c.1985G>T c.*2303G>T (n.*2303G>T) c.1996G>T (p.Ala666Ser) | |
19 | g.40396254C= | CA2335961542 | PRX | c.2098G= (p.Ala700=) c.1681G= (p.Ala561=) c.2383G= (p.Ala795=) c.1973G= c.1959G= c.2060G= c.1985G= c.*2303G= (n.*2303G=) c.1996G= (p.Ala666=) | |
19 | g.40396254C>G | CA405897011 | PRX | c.2098G>C (p.Ala700Pro) c.1681G>C (p.Ala561Pro) c.2383G>C (p.Ala795Pro) c.1973G>C c.1959G>C c.2060G>C c.1985G>C c.*2303G>C (n.*2303G>C) c.1996G>C (p.Ala666Pro) | |
19 | g.40396254C>T | CA405897010 | PRX | c.2098G>A (p.Ala700Thr) c.1681G>A (p.Ala561Thr) c.2383G>A (p.Ala795Thr) c.1973G>A c.1959G>A c.2060G>A c.1985G>A c.*2303G>A (n.*2303G>A) c.1996G>A (p.Ala666Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396255del | CA343105 | PRX | c.2098del (p.Ala700ProfsTer18) c.1681del (p.Ala561ProfsTer18) c.2383del (p.Ala795ProfsTer18) c.1973del c.1959del c.2060del c.1985del c.*2303del (n.*2303del) c.1996del (p.Ala666ProfsTer18) | ClinVar dbSNP |
19 | g.40396255C>A | CA405897012 | PRX | c.2097G>T (p.Met699Ile) c.1680G>T (p.Met560Ile) c.2382G>T (p.Met794Ile) c.1972G>T c.1958G>T c.2059G>T c.1984G>T c.*2302G>T (n.*2302G>T) c.1995G>T (p.Met665Ile) | |
19 | g.40396255C= | CA2335961543 | PRX | c.2097G= (p.Met699=) c.1680G= (p.Met560=) c.2382G= (p.Met794=) c.1972G= c.1958G= c.2059G= c.1984G= c.*2302G= (n.*2302G=) c.1995G= (p.Met665=) | |
19 | g.40396255C>G | CA405897013 | PRX | c.2097G>C (p.Met699Ile) c.1680G>C (p.Met560Ile) c.2382G>C (p.Met794Ile) c.1972G>C c.1958G>C c.2059G>C c.1984G>C c.*2302G>C (n.*2302G>C) c.1995G>C (p.Met665Ile) | |
19 | g.40396255C>T | CA10603875 | PRX | c.2097G>A (p.Met699Ile) c.1680G>A (p.Met560Ile) c.2382G>A (p.Met794Ile) c.1972G>A c.1958G>A c.2059G>A c.1984G>A c.*2302G>A (n.*2302G>A) c.1995G>A (p.Met665Ile) | ClinVar dbSNP |
19 | g.40396256A>C | CA405897014 | PRX | c.2096T>G (p.Met699Arg) c.1679T>G (p.Met560Arg) c.2381T>G (p.Met794Arg) c.1971T>G c.1957T>G c.2058T>G c.1983T>G c.*2301T>G (n.*2301T>G) c.1994T>G (p.Met665Arg) | |
19 | g.40396256A>G | CA405897015 | PRX | c.2096T>C (p.Met699Thr) c.1679T>C (p.Met560Thr) c.2381T>C (p.Met794Thr) c.1971T>C c.1957T>C c.2058T>C c.1983T>C c.*2301T>C (n.*2301T>C) c.1994T>C (p.Met665Thr) | |
19 | g.40396256A>T | CA405897016 | PRX | c.2096T>A (p.Met699Lys) c.1679T>A (p.Met560Lys) c.2381T>A (p.Met794Lys) c.1971T>A c.1957T>A c.2058T>A c.1983T>A c.*2301T>A (n.*2301T>A) c.1994T>A (p.Met665Lys) | |
19 | g.40396257T>A | CA405897017 | PRX | c.2095A>T (p.Met699Leu) c.1678A>T (p.Met560Leu) c.2380A>T (p.Met794Leu) c.1970A>T c.1956A>T c.2057A>T c.1982A>T c.*2300A>T (n.*2300A>T) c.1993A>T (p.Met665Leu) | |
19 | g.40396257T>C | CA308419687 | PRX | c.2095A>G (p.Met699Val) c.1678A>G (p.Met560Val) c.2380A>G (p.Met794Val) c.1970A>G c.1956A>G c.2057A>G c.1982A>G c.*2300A>G (n.*2300A>G) c.1993A>G (p.Met665Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40396257T>G | CA405897018 | PRX | c.2095A>C (p.Met699Leu) c.1678A>C (p.Met560Leu) c.2380A>C (p.Met794Leu) c.1970A>C c.1956A>C c.2057A>C c.1982A>C c.*2300A>C (n.*2300A>C) c.1993A>C (p.Met665Leu) | |
19 | g.40396257T= | CA2335961544 | PRX | c.2095A= (p.Met699=) c.1678A= (p.Met560=) c.2380A= (p.Met794=) c.1970A= c.1956A= c.2057A= c.1982A= c.*2300A= (n.*2300A=) c.1993A= (p.Met665=) | |
19 | g.40396258T>A | CA405897019 | PRX | c.2094A>T (p.Glu698Asp) c.1677A>T (p.Glu559Asp) c.2379A>T (p.Glu793Asp) c.1969A>T c.1955A>T c.2056A>T c.1981A>T c.*2299A>T (n.*2299A>T) c.1992A>T (p.Glu664Asp) | |
19 | g.40396258T>C | CA507679501 | PRX | c.2094A>G (p.Glu698=) c.1677A>G (p.Glu559=) c.2379A>G (p.Glu793=) c.1969A>G c.1955A>G c.2056A>G c.1981A>G c.*2299A>G (n.*2299A>G) c.1992A>G (p.Glu664=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.40396258T>G | CA405897020 | PRX | c.2094A>C (p.Glu698Asp) c.1677A>C (p.Glu559Asp) c.2379A>C (p.Glu793Asp) c.1969A>C c.1955A>C c.2056A>C c.1981A>C c.*2299A>C (n.*2299A>C) c.1992A>C (p.Glu664Asp) | |
19 | g.40396258T= | CA2335961545 | PRX | c.2094A= (p.Glu698=) c.1677A= (p.Glu559=) c.2379A= (p.Glu793=) c.1969A= c.1955A= c.2056A= c.1981A= c.*2299A= (n.*2299A=) c.1992A= (p.Glu664=) | |
19 | g.40396259T>A | CA405897023 | PRX | c.2093A>T (p.Glu698Val) c.1676A>T (p.Glu559Val) c.2378A>T (p.Glu793Val) c.1968A>T c.1954A>T c.2055A>T c.1980A>T c.*2298A>T (n.*2298A>T) c.1991A>T (p.Glu664Val) | |
19 | g.40396259T>C | CA405897021 | PRX | c.2093A>G (p.Glu698Gly) c.1676A>G (p.Glu559Gly) c.2378A>G (p.Glu793Gly) c.1968A>G c.1954A>G c.2055A>G c.1980A>G c.*2298A>G (n.*2298A>G) c.1991A>G (p.Glu664Gly) | |
19 | g.40396259T>G | CA405897022 | PRX | c.2093A>C (p.Glu698Ala) c.1676A>C (p.Glu559Ala) c.2378A>C (p.Glu793Ala) c.1968A>C c.1954A>C c.2055A>C c.1980A>C c.*2298A>C (n.*2298A>C) c.1991A>C (p.Glu664Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40396259T= | CA2335961546 | PRX | c.2093A= (p.Glu698=) c.1676A= (p.Glu559=) c.2378A= (p.Glu793=) c.1968A= c.1954A= c.2055A= c.1980A= c.*2298A= (n.*2298A=) c.1991A= (p.Glu664=) | |
19 | g.40396260C>A | CA405897024 | PRX | c.2092G>T (p.Glu698Ter) c.1675G>T (p.Glu559Ter) c.2377G>T (p.Glu793Ter) c.1967G>T c.1953G>T c.2054G>T c.1979G>T c.*2297G>T (n.*2297G>T) c.1990G>T (p.Glu664Ter) | |
19 | g.40396260C= | CA2335961547 | PRX | c.2092G= (p.Glu698=) c.1675G= (p.Glu559=) c.2377G= (p.Glu793=) c.1967G= c.1953G= c.2054G= c.1979G= c.*2297G= (n.*2297G=) c.1990G= (p.Glu664=) | |
19 | g.40396260C>G | CA405897025 | PRX | c.2092G>C (p.Glu698Gln) c.1675G>C (p.Glu559Gln) c.2377G>C (p.Glu793Gln) c.1967G>C c.1953G>C c.2054G>C c.1979G>C c.*2297G>C (n.*2297G>C) c.1990G>C (p.Glu664Gln) | |
19 | g.40396260C>T | CA308419691 | PRX | c.2092G>A (p.Glu698Lys) c.1675G>A (p.Glu559Lys) c.2377G>A (p.Glu793Lys) c.1967G>A c.1953G>A c.2054G>A c.1979G>A c.*2297G>A (n.*2297G>A) c.1990G>A (p.Glu664Lys) | dbSNP gnomAD v4 |
19 | g.40396261A= | CA2335961548 | PRX | c.2091T= (p.Pro697=) c.1674T= (p.Pro558=) c.2376T= (p.Pro792=) c.1966T= c.1952T= c.2053T= c.1978T= c.*2296T= (n.*2296T=) c.1989T= (p.Pro663=) | |
19 | g.40396261A>C | CA507679506 | PRX | c.2091T>G (p.Pro697=) c.1674T>G (p.Pro558=) c.2376T>G (p.Pro792=) c.1966T>G c.1952T>G c.2053T>G c.1978T>G c.*2296T>G (n.*2296T>G) c.1989T>G (p.Pro663=) | |
19 | g.40396261A>G | CA507679507 | PRX | c.2091T>C (p.Pro697=) c.1674T>C (p.Pro558=) c.2376T>C (p.Pro792=) c.1966T>C c.1952T>C c.2053T>C c.1978T>C c.*2296T>C (n.*2296T>C) c.1989T>C (p.Pro663=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396261A>T | CA507679508 | PRX | c.2091T>A (p.Pro697=) c.1674T>A (p.Pro558=) c.2376T>A (p.Pro792=) c.1966T>A c.1952T>A c.2053T>A c.1978T>A c.*2296T>A (n.*2296T>A) c.1989T>A (p.Pro663=) | gnomAD v3 gnomAD v4 |
19 | g.40396262G>A | CA405897026 | PRX | c.2090C>T (p.Pro697Leu) c.1673C>T (p.Pro558Leu) c.2375C>T (p.Pro792Leu) c.1965C>T c.1951C>T c.2052C>T c.1977C>T c.*2295C>T (n.*2295C>T) c.1988C>T (p.Pro663Leu) | |
19 | g.40396262G>C | CA405897027 | PRX | c.2090C>G (p.Pro697Arg) c.1673C>G (p.Pro558Arg) c.2375C>G (p.Pro792Arg) c.1965C>G c.1951C>G c.2052C>G c.1977C>G c.*2295C>G (n.*2295C>G) c.1988C>G (p.Pro663Arg) | |
19 | g.40396262G>T | CA405897028 | PRX | c.2090C>A (p.Pro697His) c.1673C>A (p.Pro558His) c.2375C>A (p.Pro792His) c.1965C>A c.1951C>A c.2052C>A c.1977C>A c.*2295C>A (n.*2295C>A) c.1988C>A (p.Pro663His) | |
19 | g.40396263G>A | CA405897029 | PRX | c.2089C>T (p.Pro697Ser) c.1672C>T (p.Pro558Ser) c.2374C>T (p.Pro792Ser) c.1964C>T c.1950C>T c.2051C>T c.1976C>T c.*2294C>T (n.*2294C>T) c.1987C>T (p.Pro663Ser) | gnomAD v3 gnomAD v4 |
19 | g.40396263G>C | CA405897030 | PRX | c.2089C>G (p.Pro697Ala) c.1672C>G (p.Pro558Ala) c.2374C>G (p.Pro792Ala) c.1964C>G c.1950C>G c.2051C>G c.1976C>G c.*2294C>G (n.*2294C>G) c.1987C>G (p.Pro663Ala) | |
19 | g.40396263G>T | CA405897031 | PRX | c.2089C>A (p.Pro697Thr) c.1672C>A (p.Pro558Thr) c.2374C>A (p.Pro792Thr) c.1964C>A c.1950C>A c.2051C>A c.1976C>A c.*2294C>A (n.*2294C>A) c.1987C>A (p.Pro663Thr) | gnomAD v4 |
19 | g.40396264C>A | CA507679511 | PRX | c.2088G>T (p.Val696=) c.1671G>T (p.Val557=) c.2373G>T (p.Val791=) c.1963G>T c.1949G>T c.2050G>T c.1975G>T c.*2293G>T (n.*2293G>T) c.1986G>T (p.Val662=) | |
19 | g.40396264C= | CA2335961549 | PRX | c.2088G= (p.Val696=) c.1671G= (p.Val557=) c.2373G= (p.Val791=) c.1963G= c.1949G= c.2050G= c.1975G= c.*2293G= (n.*2293G=) c.1986G= (p.Val662=) | |
19 | g.40396264C>G | CA507679512 | PRX | c.2088G>C (p.Val696=) c.1671G>C (p.Val557=) c.2373G>C (p.Val791=) c.1963G>C c.1949G>C c.2050G>C c.1975G>C c.*2293G>C (n.*2293G>C) c.1986G>C (p.Val662=) | |
19 | g.40396264C>T | CA308419696 | PRX | c.2088G>A (p.Val696=) c.1671G>A (p.Val557=) c.2373G>A (p.Val791=) c.1963G>A c.1949G>A c.2050G>A c.1975G>A c.*2293G>A (n.*2293G>A) c.1986G>A (p.Val662=) | ClinVar dbSNP |
19 | g.40396265A>C | CA405897032 | PRX | c.2087T>G (p.Val696Gly) c.1670T>G (p.Val557Gly) c.2372T>G (p.Val791Gly) c.1962T>G c.1948T>G c.2049T>G c.1974T>G c.*2292T>G (n.*2292T>G) c.1985T>G (p.Val662Gly) | |
19 | g.40396265A>G | CA405897033 | PRX | c.2087T>C (p.Val696Ala) c.1670T>C (p.Val557Ala) c.2372T>C (p.Val791Ala) c.1962T>C c.1948T>C c.2049T>C c.1974T>C c.*2292T>C (n.*2292T>C) c.1985T>C (p.Val662Ala) | |
19 | g.40396265A>T | CA405897034 | PRX | c.2087T>A (p.Val696Glu) c.1670T>A (p.Val557Glu) c.2372T>A (p.Val791Glu) c.1962T>A c.1948T>A c.2049T>A c.1974T>A c.*2292T>A (n.*2292T>A) c.1985T>A (p.Val662Glu) | |
19 | g.40396266C>A | CA405897035 | PRX | c.2086G>T (p.Val696Leu) c.1669G>T (p.Val557Leu) c.2371G>T (p.Val791Leu) c.1961G>T c.1947G>T c.2048G>T c.1973G>T c.*2291G>T (n.*2291G>T) c.1984G>T (p.Val662Leu) | |
19 | g.40396266C= | CA2335961550 | PRX | c.2086G= (p.Val696=) c.1669G= (p.Val557=) c.2371G= (p.Val791=) c.1961G= c.1947G= c.2048G= c.1973G= c.*2291G= (n.*2291G=) c.1984G= (p.Val662=) | |
19 | g.40396266C>G | CA9444125 | PRX | c.2086G>C (p.Val696Leu) c.1669G>C (p.Val557Leu) c.2371G>C (p.Val791Leu) c.1961G>C c.1947G>C c.2048G>C c.1973G>C c.*2291G>C (n.*2291G>C) c.1984G>C (p.Val662Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396266C>T | CA308419697 | PRX | c.2086G>A (p.Val696Met) c.1669G>A (p.Val557Met) c.2371G>A (p.Val791Met) c.1961G>A c.1947G>A c.2048G>A c.1973G>A c.*2291G>A (n.*2291G>A) c.1984G>A (p.Val662Met) | dbSNP |
19 | g.40396267dup | CA2840627681 | PRX | c.2086dup (p.Val696GlyfsTer3) c.1669dup (p.Val557GlyfsTer3) c.2371dup (p.Val791GlyfsTer3) c.1961dup c.1947dup c.2048dup c.1973dup c.*2291dup (n.*2291dup) c.1984dup (p.Val662GlyfsTer3) | |
19 | g.40396267C>A | CA405897036 | PRX | c.2085G>T (p.Lys695Asn) c.1668G>T (p.Lys556Asn) c.2370G>T (p.Lys790Asn) c.1960G>T c.1946G>T c.2047G>T c.1972G>T c.*2290G>T (n.*2290G>T) c.1983G>T (p.Lys661Asn) | |
19 | g.40396267C= | CA2335961551 | PRX | c.2085G= (p.Lys695=) c.1668G= (p.Lys556=) c.2370G= (p.Lys790=) c.1960G= c.1946G= c.2047G= c.1972G= c.*2290G= (n.*2290G=) c.1983G= (p.Lys661=) | |
19 | g.40396267C>G | CA9444126 | PRX | c.2085G>C (p.Lys695Asn) c.1668G>C (p.Lys556Asn) c.2370G>C (p.Lys790Asn) c.1960G>C c.1946G>C c.2047G>C c.1972G>C c.*2290G>C (n.*2290G>C) c.1983G>C (p.Lys661Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.40396267C>T | CA507679515 | PRX | c.2085G>A (p.Lys695=) c.1668G>A (p.Lys556=) c.2370G>A (p.Lys790=) c.1960G>A c.1946G>A c.2047G>A c.1972G>A c.*2290G>A (n.*2290G>A) c.1983G>A (p.Lys661=) | |
19 | g.40396268T>A | CA405897037 | PRX | c.2084A>T (p.Lys695Met) c.1667A>T (p.Lys556Met) c.2369A>T (p.Lys790Met) c.1959A>T c.1945A>T c.2046A>T c.1971A>T c.*2289A>T (n.*2289A>T) c.1982A>T (p.Lys661Met) | |
19 | g.40396268T>C | CA405897038 | PRX | c.2084A>G (p.Lys695Arg) c.1667A>G (p.Lys556Arg) c.2369A>G (p.Lys790Arg) c.1959A>G c.1945A>G c.2046A>G c.1971A>G c.*2289A>G (n.*2289A>G) c.1982A>G (p.Lys661Arg) | |
19 | g.40396268T>G | CA405897039 | PRX | c.2084A>C (p.Lys695Thr) c.1667A>C (p.Lys556Thr) c.2369A>C (p.Lys790Thr) c.1959A>C c.1945A>C c.2046A>C c.1971A>C c.*2289A>C (n.*2289A>C) c.1982A>C (p.Lys661Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40396268T= | CA2335961552 | PRX | c.2084A= (p.Lys695=) c.1667A= (p.Lys556=) c.2369A= (p.Lys790=) c.1959A= c.1945A= c.2046A= c.1971A= c.*2289A= (n.*2289A=) c.1982A= (p.Lys661=) | |
19 | g.40396269T>A | CA405897040 | PRX | c.2083A>T (p.Lys695Ter) c.1666A>T (p.Lys556Ter) c.2368A>T (p.Lys790Ter) c.1958A>T c.1944A>T c.2045A>T c.1970A>T c.*2288A>T (n.*2288A>T) c.1981A>T (p.Lys661Ter) | |
19 | g.40396269T>C | CA308419712 | PRX | c.2083A>G (p.Lys695Glu) c.1666A>G (p.Lys556Glu) c.2368A>G (p.Lys790Glu) c.1958A>G c.1944A>G c.2045A>G c.1970A>G c.*2288A>G (n.*2288A>G) c.1981A>G (p.Lys661Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396269T>G | CA405897041 | PRX | c.2083A>C (p.Lys695Gln) c.1666A>C (p.Lys556Gln) c.2368A>C (p.Lys790Gln) c.1958A>C c.1944A>C c.2045A>C c.1970A>C c.*2288A>C (n.*2288A>C) c.1981A>C (p.Lys661Gln) | |
19 | g.40396269T= | CA2335961553 | PRX | c.2083A= (p.Lys695=) c.1666A= (p.Lys556=) c.2368A= (p.Lys790=) c.1958A= c.1944A= c.2045A= c.1970A= c.*2288A= (n.*2288A=) c.1981A= (p.Lys661=) | |
19 | g.40396269_40396270insC | CA633466291 | PRX | c.2082_2083insG (p.Lys695GlufsTer4) c.1665_1666insG (p.Lys556GlufsTer4) c.2367_2368insG (p.Lys790GlufsTer4) c.1957_1958insG c.1943_1944insG c.2044_2045insG c.1969_1970insG c.*2287_*2288insG (n.*2287_*2288insG) c.1980_1981insG (p.Lys661GlufsTer4) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396270G>A | CA507679516 | PRX | c.2082C>T (p.Pro694=) c.1665C>T (p.Pro555=) c.2367C>T (p.Pro789=) c.1957C>T c.1943C>T c.2044C>T c.1969C>T c.*2287C>T (n.*2287C>T) c.1980C>T (p.Pro660=) | |
19 | g.40396270G>C | CA507679518 | PRX | c.2082C>G (p.Pro694=) c.1665C>G (p.Pro555=) c.2367C>G (p.Pro789=) c.1957C>G c.1943C>G c.2044C>G c.1969C>G c.*2287C>G (n.*2287C>G) c.1980C>G (p.Pro660=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396270G= | CA2335961554 | PRX | c.2082C= (p.Pro694=) c.1665C= (p.Pro555=) c.2367C= (p.Pro789=) c.1957C= c.1943C= c.2044C= c.1969C= c.*2287C= (n.*2287C=) c.1980C= (p.Pro660=) | |
19 | g.40396270G>T | CA507679520 | PRX | c.2082C>A (p.Pro694=) c.1665C>A (p.Pro555=) c.2367C>A (p.Pro789=) c.1957C>A c.1943C>A c.2044C>A c.1969C>A c.*2287C>A (n.*2287C>A) c.1980C>A (p.Pro660=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40396272_40396273del | CA2510579237 | PRX | c.2081_2082del (p.Pro694GlnfsTer4) c.1664_1665del (p.Pro555GlnfsTer4) c.2366_2367del (p.Pro789GlnfsTer4) c.1956_1957del c.1942_1943del c.2043_2044del c.1968_1969del c.*2286_*2287del (n.*2286_*2287del) c.1979_1980del (p.Pro660GlnfsTer4) | |
19 | g.40396271G>A | CA405897042 | PRX | c.2081C>T (p.Pro694Leu) c.1664C>T (p.Pro555Leu) c.2366C>T (p.Pro789Leu) c.1956C>T c.1942C>T c.2043C>T c.1968C>T c.*2286C>T (n.*2286C>T) c.1979C>T (p.Pro660Leu) | |
19 | g.40396271G>C | CA405897043 | PRX | c.2081C>G (p.Pro694Arg) c.1664C>G (p.Pro555Arg) c.2366C>G (p.Pro789Arg) c.1956C>G c.1942C>G c.2043C>G c.1968C>G c.*2286C>G (n.*2286C>G) c.1979C>G (p.Pro660Arg) | |
19 | g.40396271G>T | CA405897044 | PRX | c.2081C>A (p.Pro694His) c.1664C>A (p.Pro555His) c.2366C>A (p.Pro789His) c.1956C>A c.1942C>A c.2043C>A c.1968C>A c.*2286C>A (n.*2286C>A) c.1979C>A (p.Pro660His) | |
19 | g.40396272_40396273insAGTTGCACTTCAGG | CA633466292 | PRX | c.2081_2082insTGAAGTGCAACTCC (p.Lys695GlufsTer28) c.1664_1665insTGAAGTGCAACTCC (p.Lys556GlufsTer28) c.2366_2367insTGAAGTGCAACTCC (p.Lys790GlufsTer28) c.1956_1957insTGAAGTGCAACTCC c.1942_1943insTGAAGTGCAACTCC c.2043_2044insTGAAGTGCAACTCC c.1968_1969insTGAAGTGCAACTCC c.*2286_*2287insTGAAGTGCAACTCC (n.*2286_*2287insTGAAGTGCAACTCC) c.1979_1980insTGAAGTGCAACTCC (p.Lys661GlufsTer28) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396272G>A | CA405897045 | PRX | c.2080C>T (p.Pro694Ser) c.1663C>T (p.Pro555Ser) c.2365C>T (p.Pro789Ser) c.1955C>T c.1941C>T c.2042C>T c.1967C>T c.*2285C>T (n.*2285C>T) c.1978C>T (p.Pro660Ser) | |
19 | g.40396272G>C | CA405897046 | PRX | c.2080C>G (p.Pro694Ala) c.1663C>G (p.Pro555Ala) c.2365C>G (p.Pro789Ala) c.1955C>G c.1941C>G c.2042C>G c.1967C>G c.*2285C>G (n.*2285C>G) c.1978C>G (p.Pro660Ala) | |
19 | g.40396272G>T | CA405897047 | PRX | c.2080C>A (p.Pro694Thr) c.1663C>A (p.Pro555Thr) c.2365C>A (p.Pro789Thr) c.1955C>A c.1941C>A c.2042C>A c.1967C>A c.*2285C>A (n.*2285C>A) c.1978C>A (p.Pro660Thr) | gnomAD v4 |
19 | g.40396273_40396275dup | CA2585127085 | PRX | c.2078_2080dup (p.Leu693_Pro694insLeu) c.1661_1663dup (p.Leu554_Pro555insLeu) c.2363_2365dup (p.Leu788_Pro789insLeu) c.1953_1955dup c.1939_1941dup c.2040_2042dup c.1965_1967dup c.*2283_*2285dup (n.*2283_*2285dup) c.1976_1978dup (p.Leu659_Pro660insLeu) | gnomAD v4 |
19 | g.40396273G>A | CA507679521 | PRX | c.2079C>T (p.Leu693=) c.1662C>T (p.Leu554=) c.2364C>T (p.Leu788=) c.1954C>T c.1940C>T c.2041C>T c.1966C>T c.*2284C>T (n.*2284C>T) c.1977C>T (p.Leu659=) | |
19 | g.40396273G>C | CA507679523 | PRX | c.2079C>G (p.Leu693=) c.1662C>G (p.Leu554=) c.2364C>G (p.Leu788=) c.1954C>G c.1940C>G c.2041C>G c.1966C>G c.*2284C>G (n.*2284C>G) c.1977C>G (p.Leu659=) | |
19 | g.40396273G>T | CA507679522 | PRX | c.2079C>A (p.Leu693=) c.1662C>A (p.Leu554=) c.2364C>A (p.Leu788=) c.1954C>A c.1940C>A c.2041C>A c.1966C>A c.*2284C>A (n.*2284C>A) c.1977C>A (p.Leu659=) | |
19 | g.40396274del | CA2585127086 | PRX | c.2078del (p.Leu693ProfsTer25) c.1661del (p.Leu554ProfsTer25) c.2363del (p.Leu788ProfsTer25) c.1953del c.1939del c.2040del c.1965del c.*2283del (n.*2283del) c.1976del (p.Leu659ProfsTer25) | gnomAD v4 |
19 | g.40396274A>C | CA405897050 | PRX | c.2078T>G (p.Leu693Arg) c.1661T>G (p.Leu554Arg) c.2363T>G (p.Leu788Arg) c.1953T>G c.1939T>G c.2040T>G c.1965T>G c.*2283T>G (n.*2283T>G) c.1976T>G (p.Leu659Arg) | |
19 | g.40396274A>G | CA405897048 | PRX | c.2078T>C (p.Leu693Pro) c.1661T>C (p.Leu554Pro) c.2363T>C (p.Leu788Pro) c.1953T>C c.1939T>C c.2040T>C c.1965T>C c.*2283T>C (n.*2283T>C) c.1976T>C (p.Leu659Pro) | |
19 | g.40396274A>T | CA405897049 | PRX | c.2078T>A (p.Leu693His) c.1661T>A (p.Leu554His) c.2363T>A (p.Leu788His) c.1953T>A c.1939T>A c.2040T>A c.1965T>A c.*2283T>A (n.*2283T>A) c.1976T>A (p.Leu659His) | |
19 | g.40396275G>A | CA405897051 | PRX | c.2077C>T (p.Leu693Phe) c.1660C>T (p.Leu554Phe) c.2362C>T (p.Leu788Phe) c.1952C>T c.1938C>T c.2039C>T c.1964C>T c.*2282C>T (n.*2282C>T) c.1975C>T (p.Leu659Phe) | |
19 | g.40396275G>C | CA9444127 | PRX | c.2077C>G (p.Leu693Val) c.1660C>G (p.Leu554Val) c.2362C>G (p.Leu788Val) c.1952C>G c.1938C>G c.2039C>G c.1964C>G c.*2282C>G (n.*2282C>G) c.1975C>G (p.Leu659Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.40396275G= | CA2335961555 | PRX | c.2077C= (p.Leu693=) c.1660C= (p.Leu554=) c.2362C= (p.Leu788=) c.1952C= c.1938C= c.2039C= c.1964C= c.*2282C= (n.*2282C=) c.1975C= (p.Leu659=) | |
19 | g.40396275G>T | CA405897052 | PRX | c.2077C>A (p.Leu693Ile) c.1660C>A (p.Leu554Ile) c.2362C>A (p.Leu788Ile) c.1952C>A c.1938C>A c.2039C>A c.1964C>A c.*2282C>A (n.*2282C>A) c.1975C>A (p.Leu659Ile) | |
19 | g.40396276T>A | CA405897053 | PRX | c.2076A>T (p.Lys692Asn) c.1659A>T (p.Lys553Asn) c.2361A>T (p.Lys787Asn) c.1951A>T c.1937A>T c.2038A>T c.1963A>T c.*2281A>T (n.*2281A>T) c.1974A>T (p.Lys658Asn) | |
19 | g.40396276T>C | CA507679525 | PRX | c.2076A>G (p.Lys692=) c.1659A>G (p.Lys553=) c.2361A>G (p.Lys787=) c.1951A>G c.1937A>G c.2038A>G c.1963A>G c.*2281A>G (n.*2281A>G) c.1974A>G (p.Lys658=) | |
19 | g.40396276T>G | CA405897054 | PRX | c.2076A>C (p.Lys692Asn) c.1659A>C (p.Lys553Asn) c.2361A>C (p.Lys787Asn) c.1951A>C c.1937A>C c.2038A>C c.1963A>C c.*2281A>C (n.*2281A>C) c.1974A>C (p.Lys658Asn) | |
19 | g.40396276_40396300delinsTTTCATCTCTGAGACTTTTGGCAGC | CA2335961556 | PRX | c.2052_2076delinsGCTGCCAAAAGTCTCAGAGATGAAA (p.Gln684=) c.1635_1659delinsGCTGCCAAAAGTCTCAGAGATGAAA (p.Gln545=) c.2337_2361delinsGCTGCCAAAAGTCTCAGAGATGAAA (p.Gln779=) c.1927_1951delinsGCTGCCAAAAGTCTCAGAGATGAAA c.1913_1937delinsGCTGCCAAAAGTCTCAGAGATGAAA c.2014_2038delinsGCTGCCAAAAGTCTCAGAGATGAAA c.1939_1963delinsGCTGCCAAAAGTCTCAGAGATGAAA c.*2257_*2281delinsGCTGCCAAAAGTCTCAGAGATGAAA (n.*2257_*2281delinsGCTGCCAAAAGTCTCAGAGATGAAA) c.1950_1974delinsGCTGCCAAAAGTCTCAGAGATGAAA (p.Gln650=) | |
19 | g.40396276_40396277insGCC | CA2585127087 | PRX | c.2075_2076insGGC (p.Lys692_Leu693insAla) c.1658_1659insGGC (p.Lys553_Leu554insAla) c.2360_2361insGGC (p.Lys787_Leu788insAla) c.1950_1951insGGC c.1936_1937insGGC c.2037_2038insGGC c.1962_1963insGGC c.*2280_*2281insGGC (n.*2280_*2281insGGC) c.1973_1974insGGC (p.Lys658_Leu659insAla) | gnomAD v4 |
19 | g.40396277T>A | CA405897055 | PRX | c.2075A>T (p.Lys692Ile) c.1658A>T (p.Lys553Ile) c.2360A>T (p.Lys787Ile) c.1950A>T c.1936A>T c.2037A>T c.1962A>T c.*2280A>T (n.*2280A>T) c.1973A>T (p.Lys658Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40396277T>C | CA405897056 | PRX | c.2075A>G (p.Lys692Arg) c.1658A>G (p.Lys553Arg) c.2360A>G (p.Lys787Arg) c.1950A>G c.1936A>G c.2037A>G c.1962A>G c.*2280A>G (n.*2280A>G) c.1973A>G (p.Lys658Arg) | gnomAD v4 |
19 | g.40396277T>G | CA405897057 | PRX | c.2075A>C (p.Lys692Thr) c.1658A>C (p.Lys553Thr) c.2360A>C (p.Lys787Thr) c.1950A>C c.1936A>C c.2037A>C c.1962A>C c.*2280A>C (n.*2280A>C) c.1973A>C (p.Lys658Thr) | |
19 | g.40396277T= | CA2335961557 | PRX | c.2075A= (p.Lys692=) c.1658A= (p.Lys553=) c.2360A= (p.Lys787=) c.1950A= c.1936A= c.2037A= c.1962A= c.*2280A= (n.*2280A=) c.1973A= (p.Lys658=) | |
19 | g.40396277_40396278insGCACT | CA995889503 | PRX | c.2075_2076insGTGCA (p.Leu693CysfsTer27) c.1658_1659insGTGCA (p.Leu554CysfsTer27) c.2360_2361insGTGCA (p.Leu788CysfsTer27) c.1950_1951insGTGCA c.1936_1937insGTGCA c.2037_2038insGTGCA c.1962_1963insGTGCA c.*2280_*2281insGTGCA (n.*2280_*2281insGTGCA) c.1973_1974insGTGCA (p.Leu659CysfsTer27) | gnomAD v3 gnomAD v4 |
19 | g.40396278_40396301del | CA633466293 | PRX | c.2052_2075del (p.Leu685_Lys692del) c.1635_1658del (p.Leu546_Lys553del) c.2337_2360del (p.Leu780_Lys787del) c.1927_1950del c.1913_1936del c.2014_2037del c.1939_1962del c.*2257_*2280del (n.*2257_*2280del) c.1950_1973del (p.Leu651_Lys658del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396278T>A | CA405897058 | PRX | c.2074A>T (p.Lys692Ter) c.1657A>T (p.Lys553Ter) c.2359A>T (p.Lys787Ter) c.1949A>T c.1935A>T c.2036A>T c.1961A>T c.*2279A>T (n.*2279A>T) c.1972A>T (p.Lys658Ter) | |
19 | g.40396278T>C | CA405897059 | PRX | c.2074A>G (p.Lys692Glu) c.1657A>G (p.Lys553Glu) c.2359A>G (p.Lys787Glu) c.1949A>G c.1935A>G c.2036A>G c.1961A>G c.*2279A>G (n.*2279A>G) c.1972A>G (p.Lys658Glu) | |
19 | g.40396278T>G | CA405897060 | PRX | c.2074A>C (p.Lys692Gln) c.1657A>C (p.Lys553Gln) c.2359A>C (p.Lys787Gln) c.1949A>C c.1935A>C c.2036A>C c.1961A>C c.*2279A>C (n.*2279A>C) c.1972A>C (p.Lys658Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40396278T= | CA2335961558 | PRX | c.2074A= (p.Lys692=) c.1657A= (p.Lys553=) c.2359A= (p.Lys787=) c.1949A= c.1935A= c.2036A= c.1961A= c.*2279A= (n.*2279A=) c.1972A= (p.Lys658=) |