| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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.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.40396306_40396344del | CA633466294 | PRX | c.2008_2046del (p.Met670_Glu682del) c.1591_1629del (p.Met531_Glu543del) c.2293_2331del (p.Met765_Glu777del) c.1883_1921del c.1869_1907del c.1970_2008del c.1895_1933del c.*2213_*2251del (n.*2213_*2251del) c.1906_1944del (p.Met636_Glu648del) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396309G>A | CA9444132 | PRX | c.2043C>T (p.Pro681=) c.1626C>T (p.Pro542=) c.2328C>T (p.Pro776=) c.1918C>T c.1904C>T c.2005C>T c.1930C>T c.*2248C>T (n.*2248C>T) c.1941C>T (p.Pro647=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396309G>C | CA507679555 | PRX | c.2043C>G (p.Pro681=) c.1626C>G (p.Pro542=) c.2328C>G (p.Pro776=) c.1918C>G c.1904C>G c.2005C>G c.1930C>G c.*2248C>G (n.*2248C>G) c.1941C>G (p.Pro647=) | gnomAD v4 |
| 19 | g.40396309G= | CA2335961573 | PRX | c.2043C= (p.Pro681=) c.1626C= (p.Pro542=) c.2328C= (p.Pro776=) c.1918C= c.1904C= c.2005C= c.1930C= c.*2248C= (n.*2248C=) c.1941C= (p.Pro647=) | |
| 19 | g.40396309G>T | CA507679556 | PRX | c.2043C>A (p.Pro681=) c.1626C>A (p.Pro542=) c.2328C>A (p.Pro776=) c.1918C>A c.1904C>A c.2005C>A c.1930C>A c.*2248C>A (n.*2248C>A) c.1941C>A (p.Pro647=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396310G>A | CA405897128 | PRX | c.2042C>T (p.Pro681Leu) c.1625C>T (p.Pro542Leu) c.2327C>T (p.Pro776Leu) c.1917C>T c.1903C>T c.2004C>T c.1929C>T c.*2247C>T (n.*2247C>T) c.1940C>T (p.Pro647Leu) | |
| 19 | g.40396310G>C | CA405897126 | PRX | c.2042C>G (p.Pro681Arg) c.1625C>G (p.Pro542Arg) c.2327C>G (p.Pro776Arg) c.1917C>G c.1903C>G c.2004C>G c.1929C>G c.*2247C>G (n.*2247C>G) c.1940C>G (p.Pro647Arg) | |
| 19 | g.40396310G>T | CA405897127 | PRX | c.2042C>A (p.Pro681His) c.1625C>A (p.Pro542His) c.2327C>A (p.Pro776His) c.1917C>A c.1903C>A c.2004C>A c.1929C>A c.*2247C>A (n.*2247C>A) c.1940C>A (p.Pro647His) | |
| 19 | g.40396311G>A | CA405897129 | PRX | c.2041C>T (p.Pro681Ser) c.1624C>T (p.Pro542Ser) c.2326C>T (p.Pro776Ser) c.1916C>T c.1902C>T c.2003C>T c.1928C>T c.*2246C>T (n.*2246C>T) c.1939C>T (p.Pro647Ser) | |
| 19 | g.40396311G>C | CA405897130 | PRX | c.2041C>G (p.Pro681Ala) c.1624C>G (p.Pro542Ala) c.2326C>G (p.Pro776Ala) c.1916C>G c.1902C>G c.2003C>G c.1928C>G c.*2246C>G (n.*2246C>G) c.1939C>G (p.Pro647Ala) | |
| 19 | g.40396311G>T | CA405897131 | PRX | c.2041C>A (p.Pro681Thr) c.1624C>A (p.Pro542Thr) c.2326C>A (p.Pro776Thr) c.1916C>A c.1902C>A c.2003C>A c.1928C>A c.*2246C>A (n.*2246C>A) c.1939C>A (p.Pro647Thr) | |
| 19 | g.40396312G>A | CA9444133 | PRX | c.2040C>T (p.Leu680=) c.1623C>T (p.Leu541=) c.2325C>T (p.Leu775=) c.1915C>T c.1901C>T c.2002C>T c.1927C>T c.*2245C>T (n.*2245C>T) c.1938C>T (p.Leu646=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396312G>C | CA507679560 | PRX | c.2040C>G (p.Leu680=) c.1623C>G (p.Leu541=) c.2325C>G (p.Leu775=) c.1915C>G c.1901C>G c.2002C>G c.1927C>G c.*2245C>G (n.*2245C>G) c.1938C>G (p.Leu646=) | gnomAD v4 |
| 19 | g.40396312G= | CA2335961574 | PRX | c.2040C= (p.Leu680=) c.1623C= (p.Leu541=) c.2325C= (p.Leu775=) c.1915C= c.1901C= c.2002C= c.1927C= c.*2245C= (n.*2245C=) c.1938C= (p.Leu646=) | |
| 19 | g.40396312G>T | CA507679561 | PRX | c.2040C>A (p.Leu680=) c.1623C>A (p.Leu541=) c.2325C>A (p.Leu775=) c.1915C>A c.1901C>A c.2002C>A c.1927C>A c.*2245C>A (n.*2245C>A) c.1938C>A (p.Leu646=) | |
| 19 | g.40396313A>C | CA405897132 | PRX | c.2039T>G (p.Leu680Arg) c.1622T>G (p.Leu541Arg) c.2324T>G (p.Leu775Arg) c.1914T>G c.1900T>G c.2001T>G c.1926T>G c.*2244T>G (n.*2244T>G) c.1937T>G (p.Leu646Arg) | |
| 19 | g.40396313A>G | CA405897133 | PRX | c.2039T>C (p.Leu680Pro) c.1622T>C (p.Leu541Pro) c.2324T>C (p.Leu775Pro) c.1914T>C c.1900T>C c.2001T>C c.1926T>C c.*2244T>C (n.*2244T>C) c.1937T>C (p.Leu646Pro) | |
| 19 | g.40396313A>T | CA405897134 | PRX | c.2039T>A (p.Leu680His) c.1622T>A (p.Leu541His) c.2324T>A (p.Leu775His) c.1914T>A c.1900T>A c.2001T>A c.1926T>A c.*2244T>A (n.*2244T>A) c.1937T>A (p.Leu646His) | |
| 19 | g.40396314G>A | CA9444134 | PRX | c.2038C>T (p.Leu680Phe) c.1621C>T (p.Leu541Phe) c.2323C>T (p.Leu775Phe) c.1913C>T c.1899C>T c.2000C>T c.1925C>T c.*2243C>T (n.*2243C>T) c.1936C>T (p.Leu646Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396314G>C | CA405897135 | PRX | c.2038C>G (p.Leu680Val) c.1621C>G (p.Leu541Val) c.2323C>G (p.Leu775Val) c.1913C>G c.1899C>G c.2000C>G c.1925C>G c.*2243C>G (n.*2243C>G) c.1936C>G (p.Leu646Val) | |
| 19 | g.40396314G= | CA2335961575 | PRX | c.2038C= (p.Leu680=) c.1621C= (p.Leu541=) c.2323C= (p.Leu775=) c.1913C= c.1899C= c.2000C= c.1925C= c.*2243C= (n.*2243C=) c.1936C= (p.Leu646=) | |
| 19 | g.40396314G>T | CA405897136 | PRX | c.2038C>A (p.Leu680Ile) c.1621C>A (p.Leu541Ile) c.2323C>A (p.Leu775Ile) c.1913C>A c.1899C>A c.2000C>A c.1925C>A c.*2243C>A (n.*2243C>A) c.1936C>A (p.Leu646Ile) | |
| 19 | g.40396315T>A | CA507679562 | PRX | c.2037A>T (p.Arg679=) c.1620A>T (p.Arg540=) c.2322A>T (p.Arg774=) c.1912A>T c.1898A>T c.1999A>T c.1924A>T c.*2242A>T (n.*2242A>T) c.1935A>T (p.Arg645=) | ClinVar dbSNP |
| 19 | g.40396315T>C | CA507679564 | PRX | c.2037A>G (p.Arg679=) c.1620A>G (p.Arg540=) c.2322A>G (p.Arg774=) c.1912A>G c.1898A>G c.1999A>G c.1924A>G c.*2242A>G (n.*2242A>G) c.1935A>G (p.Arg645=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396315T>G | CA507679566 | PRX | c.2037A>C (p.Arg679=) c.1620A>C (p.Arg540=) c.2322A>C (p.Arg774=) c.1912A>C c.1898A>C c.1999A>C c.1924A>C c.*2242A>C (n.*2242A>C) c.1935A>C (p.Arg645=) | |
| 19 | g.40396316C>A | CA405897138 | PRX | c.2036G>T (p.Arg679Leu) c.1619G>T (p.Arg540Leu) c.2321G>T (p.Arg774Leu) c.1911G>T c.1897G>T c.1998G>T c.1923G>T c.*2241G>T (n.*2241G>T) c.1934G>T (p.Arg645Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396316C= | CA2335961576 | PRX | c.2036G= (p.Arg679=) c.1619G= (p.Arg540=) c.2321G= (p.Arg774=) c.1911G= c.1897G= c.1998G= c.1923G= c.*2241G= (n.*2241G=) c.1934G= (p.Arg645=) | |
| 19 | g.40396316C>G | CA405897137 | PRX | c.2036G>C (p.Arg679Pro) c.1619G>C (p.Arg540Pro) c.2321G>C (p.Arg774Pro) c.1911G>C c.1897G>C c.1998G>C c.1923G>C c.*2241G>C (n.*2241G>C) c.1934G>C (p.Arg645Pro) | |
| 19 | g.40396316C>T | CA9444135 | PRX | c.2036G>A (p.Arg679Gln) c.1619G>A (p.Arg540Gln) c.2321G>A (p.Arg774Gln) c.1911G>A c.1897G>A c.1998G>A c.1923G>A c.*2241G>A (n.*2241G>A) c.1934G>A (p.Arg645Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396317G>A | CA405897139 | PRX | c.2035C>T (p.Arg679Ter) c.1618C>T (p.Arg540Ter) c.2320C>T (p.Arg774Ter) c.1910C>T c.1896C>T c.1997C>T c.1922C>T c.*2240C>T (n.*2240C>T) c.1933C>T (p.Arg645Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396317G>C | CA405897140 | PRX | c.2035C>G (p.Arg679Gly) c.1618C>G (p.Arg540Gly) c.2320C>G (p.Arg774Gly) c.1910C>G c.1896C>G c.1997C>G c.1922C>G c.*2240C>G (n.*2240C>G) c.1933C>G (p.Arg645Gly) | |
| 19 | g.40396317G= | CA2335961577 | PRX | c.2035C= (p.Arg679=) c.1618C= (p.Arg540=) c.2320C= (p.Arg774=) c.1910C= c.1896C= c.1997C= c.1922C= c.*2240C= (n.*2240C=) c.1933C= (p.Arg645=) | |
| 19 | g.40396317G>T | CA507679567 | PRX | c.2035C>A (p.Arg679=) c.1618C>A (p.Arg540=) c.2320C>A (p.Arg774=) c.1910C>A c.1896C>A c.1997C>A c.1922C>A c.*2240C>A (n.*2240C>A) c.1933C>A (p.Arg645=) | |
| 19 | g.40396318A>C | CA507679568 | PRX | c.2034T>G (p.Val678=) c.1617T>G (p.Val539=) c.2319T>G (p.Val773=) c.1909T>G c.1895T>G c.1996T>G c.1921T>G c.*2239T>G (n.*2239T>G) c.1932T>G (p.Val644=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396318A>G | CA507679569 | PRX | c.2034T>C (p.Val678=) c.1617T>C (p.Val539=) c.2319T>C (p.Val773=) c.1909T>C c.1895T>C c.1996T>C c.1921T>C c.*2239T>C (n.*2239T>C) c.1932T>C (p.Val644=) | |
| 19 | g.40396318A>T | CA507679570 | PRX | c.2034T>A (p.Val678=) c.1617T>A (p.Val539=) c.2319T>A (p.Val773=) c.1909T>A c.1895T>A c.1996T>A c.1921T>A c.*2239T>A (n.*2239T>A) c.1932T>A (p.Val644=) | |
| 19 | g.40396319A= | CA2335961578 | PRX | c.2033T= (p.Val678=) c.1616T= (p.Val539=) c.2318T= (p.Val773=) c.1908T= c.1894T= c.1995T= c.1920T= c.*2238T= (n.*2238T=) c.1931T= (p.Val644=) | |
| 19 | g.40396319A>C | CA405897141 | PRX | c.2033T>G (p.Val678Gly) c.1616T>G (p.Val539Gly) c.2318T>G (p.Val773Gly) c.1908T>G c.1894T>G c.1995T>G c.1920T>G c.*2238T>G (n.*2238T>G) c.1931T>G (p.Val644Gly) | gnomAD v4 |
| 19 | g.40396319A>G | CA405897142 | PRX | c.2033T>C (p.Val678Ala) c.1616T>C (p.Val539Ala) c.2318T>C (p.Val773Ala) c.1908T>C c.1894T>C c.1995T>C c.1920T>C c.*2238T>C (n.*2238T>C) c.1931T>C (p.Val644Ala) | ClinVar dbSNP |
| 19 | g.40396319A>T | CA405897143 | PRX | c.2033T>A (p.Val678Asp) c.1616T>A (p.Val539Asp) c.2318T>A (p.Val773Asp) c.1908T>A c.1894T>A c.1995T>A c.1920T>A c.*2238T>A (n.*2238T>A) c.1931T>A (p.Val644Asp) | |
| 19 | g.40396320C>A | CA405897144 | PRX | c.2032G>T (p.Val678Phe) c.1615G>T (p.Val539Phe) c.2317G>T (p.Val773Phe) c.1907G>T c.1893G>T c.1994G>T c.1919G>T c.*2237G>T (n.*2237G>T) c.1930G>T (p.Val644Phe) | ClinVar |
| 19 | g.40396320C>G | CA405897145 | PRX | c.2032G>C (p.Val678Leu) c.1615G>C (p.Val539Leu) c.2317G>C (p.Val773Leu) c.1907G>C c.1893G>C c.1994G>C c.1919G>C c.*2237G>C (n.*2237G>C) c.1930G>C (p.Val644Leu) | |
| 19 | g.40396320C>T | CA405897146 | PRX | c.2032G>A (p.Val678Ile) c.1615G>A (p.Val539Ile) c.2317G>A (p.Val773Ile) c.1907G>A c.1893G>A c.1994G>A c.1919G>A c.*2237G>A (n.*2237G>A) c.1930G>A (p.Val644Ile) |