UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.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=) | |
| 19 | g.40396279C>A | CA405897061 | PRX | c.2073G>T (p.Met691Ile) c.1656G>T (p.Met552Ile) c.2358G>T (p.Met786Ile) c.1948G>T c.1934G>T c.2035G>T c.1960G>T c.*2278G>T (n.*2278G>T) c.1971G>T (p.Met657Ile) | |
| 19 | g.40396279C>G | CA405897062 | PRX | c.2073G>C (p.Met691Ile) c.1656G>C (p.Met552Ile) c.2358G>C (p.Met786Ile) c.1948G>C c.1934G>C c.2035G>C c.1960G>C c.*2278G>C (n.*2278G>C) c.1971G>C (p.Met657Ile) | |
| 19 | g.40396279C>T | CA405897063 | PRX | c.2073G>A (p.Met691Ile) c.1656G>A (p.Met552Ile) c.2358G>A (p.Met786Ile) c.1948G>A c.1934G>A c.2035G>A c.1960G>A c.*2278G>A (n.*2278G>A) c.1971G>A (p.Met657Ile) | gnomAD v4 COSMIC |
| 19 | g.40396279_40396280insGGAAG | CA2585127088 | PRX | c.2072_2073insCTTCC (p.Met691IlefsTer29) c.1655_1656insCTTCC (p.Met552IlefsTer29) c.2357_2358insCTTCC (p.Met786IlefsTer29) c.1947_1948insCTTCC c.1933_1934insCTTCC c.2034_2035insCTTCC c.1959_1960insCTTCC c.*2277_*2278insCTTCC (n.*2277_*2278insCTTCC) c.1970_1971insCTTCC (p.Met657IlefsTer29) | gnomAD v4 |
| 19 | g.40396280A>C | CA405897066 | PRX | c.2072T>G (p.Met691Arg) c.1655T>G (p.Met552Arg) c.2357T>G (p.Met786Arg) c.1947T>G c.1933T>G c.2034T>G c.1959T>G c.*2277T>G (n.*2277T>G) c.1970T>G (p.Met657Arg) | |
| 19 | g.40396280A>G | CA405897065 | PRX | c.2072T>C (p.Met691Thr) c.1655T>C (p.Met552Thr) c.2357T>C (p.Met786Thr) c.1947T>C c.1933T>C c.2034T>C c.1959T>C c.*2277T>C (n.*2277T>C) c.1970T>C (p.Met657Thr) | gnomAD v4 |
| 19 | g.40396280A>T | CA405897064 | PRX | c.2072T>A (p.Met691Lys) c.1655T>A (p.Met552Lys) c.2357T>A (p.Met786Lys) c.1947T>A c.1933T>A c.2034T>A c.1959T>A c.*2277T>A (n.*2277T>A) c.1970T>A (p.Met657Lys) | |
| 19 | g.40396281del | CA995889514 | PRX | c.2071del (p.Met691Ter) c.1654del (p.Met552Ter) c.2356del (p.Met786Ter) c.1946del c.1932del c.2033del c.1958del c.*2276del (n.*2276del) c.1969del (p.Met657Ter) | gnomAD v3 gnomAD v4 |
| 19 | g.40396281T>A | CA405897067 | PRX | c.2071A>T (p.Met691Leu) c.1654A>T (p.Met552Leu) c.2356A>T (p.Met786Leu) c.1946A>T c.1932A>T c.2033A>T c.1958A>T c.*2276A>T (n.*2276A>T) c.1969A>T (p.Met657Leu) | |
| 19 | g.40396281T>C | CA405897068 | PRX | c.2071A>G (p.Met691Val) c.1654A>G (p.Met552Val) c.2356A>G (p.Met786Val) c.1946A>G c.1932A>G c.2033A>G c.1958A>G c.*2276A>G (n.*2276A>G) c.1969A>G (p.Met657Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396281T>G | CA10652465 | PRX | c.2071A>C (p.Met691Leu) c.1654A>C (p.Met552Leu) c.2356A>C (p.Met786Leu) c.1946A>C c.1932A>C c.2033A>C c.1958A>C c.*2276A>C (n.*2276A>C) c.1969A>C (p.Met657Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40396281T= | CA2335961559 | PRX | c.2071A= (p.Met691=) c.1654A= (p.Met552=) c.2356A= (p.Met786=) c.1946A= c.1932A= c.2033A= c.1958A= c.*2276A= (n.*2276A=) c.1969A= (p.Met657=) | |
| 19 | g.40396281_40396282insG | CA2585127089 | PRX | c.2070_2071insC (p.Met691HisfsTer8) c.1653_1654insC (p.Met552HisfsTer8) c.2355_2356insC (p.Met786HisfsTer8) c.1945_1946insC c.1931_1932insC c.2032_2033insC c.1957_1958insC c.*2275_*2276insC (n.*2275_*2276insC) c.1968_1969insC (p.Met657HisfsTer8) | gnomAD v4 |
| 19 | g.40396282C>A | CA405897069 | PRX | c.2070G>T (p.Glu690Asp) c.1653G>T (p.Glu551Asp) c.2355G>T (p.Glu785Asp) c.1945G>T c.1931G>T c.2032G>T c.1957G>T c.*2275G>T (n.*2275G>T) c.1968G>T (p.Glu656Asp) | |
| 19 | g.40396282C= | CA2335961560 | PRX | c.2070G= (p.Glu690=) c.1653G= (p.Glu551=) c.2355G= (p.Glu785=) c.1945G= c.1931G= c.2032G= c.1957G= c.*2275G= (n.*2275G=) c.1968G= (p.Glu656=) | |
| 19 | g.40396282C>G | CA405897070 | PRX | c.2070G>C (p.Glu690Asp) c.1653G>C (p.Glu551Asp) c.2355G>C (p.Glu785Asp) c.1945G>C c.1931G>C c.2032G>C c.1957G>C c.*2275G>C (n.*2275G>C) c.1968G>C (p.Glu656Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396282C>T | CA507679529 | PRX | c.2070G>A (p.Glu690=) c.1653G>A (p.Glu551=) c.2355G>A (p.Glu785=) c.1945G>A c.1931G>A c.2032G>A c.1957G>A c.*2275G>A (n.*2275G>A) c.1968G>A (p.Glu656=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396282_40396283insACG | CA2585127090 | PRX | c.2069_2070insCGT (p.Glu690delinsAspVal) c.1652_1653insCGT (p.Glu551delinsAspVal) c.2354_2355insCGT (p.Glu785delinsAspVal) c.1944_1945insCGT c.1930_1931insCGT c.2031_2032insCGT c.1956_1957insCGT c.*2274_*2275insCGT (n.*2274_*2275insCGT) c.1967_1968insCGT (p.Glu656delinsAspVal) | gnomAD v4 |
| 19 | g.40396283T>A | CA405897071 | PRX | c.2069A>T (p.Glu690Val) c.1652A>T (p.Glu551Val) c.2354A>T (p.Glu785Val) c.1944A>T c.1930A>T c.2031A>T c.1956A>T c.*2274A>T (n.*2274A>T) c.1967A>T (p.Glu656Val) | |
| 19 | g.40396283T>C | CA405897072 | PRX | c.2069A>G (p.Glu690Gly) c.1652A>G (p.Glu551Gly) c.2354A>G (p.Glu785Gly) c.1944A>G c.1930A>G c.2031A>G c.1956A>G c.*2274A>G (n.*2274A>G) c.1967A>G (p.Glu656Gly) | |
| 19 | g.40396283T>G | CA405897073 | PRX | c.2069A>C (p.Glu690Ala) c.1652A>C (p.Glu551Ala) c.2354A>C (p.Glu785Ala) c.1944A>C c.1930A>C c.2031A>C c.1956A>C c.*2274A>C (n.*2274A>C) c.1967A>C (p.Glu656Ala) | |
| 19 | g.40396284C>A | CA405897074 | PRX | c.2068G>T (p.Glu690Ter) c.1651G>T (p.Glu551Ter) c.2353G>T (p.Glu785Ter) c.1943G>T c.1929G>T c.2030G>T c.1955G>T c.*2273G>T (n.*2273G>T) c.1966G>T (p.Glu656Ter) | |
| 19 | g.40396284C= | CA2335961561 | PRX | c.2068G= (p.Glu690=) c.1651G= (p.Glu551=) c.2353G= (p.Glu785=) c.1943G= c.1929G= c.2030G= c.1955G= c.*2273G= (n.*2273G=) c.1966G= (p.Glu656=) | |
| 19 | g.40396284C>G | CA405897075 | PRX | c.2068G>C (p.Glu690Gln) c.1651G>C (p.Glu551Gln) c.2353G>C (p.Glu785Gln) c.1943G>C c.1929G>C c.2030G>C c.1955G>C c.*2273G>C (n.*2273G>C) c.1966G>C (p.Glu656Gln) | |
| 19 | g.40396284C>T | CA405897076 | PRX | c.2068G>A (p.Glu690Lys) c.1651G>A (p.Glu551Lys) c.2353G>A (p.Glu785Lys) c.1943G>A c.1929G>A c.2030G>A c.1955G>A c.*2273G>A (n.*2273G>A) c.1966G>A (p.Glu656Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396284_40396286delinsCTG | CA2335961562 | PRX | c.2066_2068delinsCAG (p.Ser689=) c.1649_1651delinsCAG (p.Ser550=) c.2351_2353delinsCAG (p.Ser784=) c.1941_1943delinsCAG c.1927_1929delinsCAG c.2028_2030delinsCAG c.1953_1955delinsCAG c.*2271_*2273delinsCAG (n.*2271_*2273delinsCAG) c.1964_1966delinsCAG (p.Ser655=) | |
| 19 | g.40396285T>A | CA507679530 | PRX | c.2067A>T (p.Ser689=) c.1650A>T (p.Ser550=) c.2352A>T (p.Ser784=) c.1942A>T c.1928A>T c.2029A>T c.1954A>T c.*2272A>T (n.*2272A>T) c.1965A>T (p.Ser655=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396285T>C | CA507679531 | PRX | c.2067A>G (p.Ser689=) c.1650A>G (p.Ser550=) c.2352A>G (p.Ser784=) c.1942A>G c.1928A>G c.2029A>G c.1954A>G c.*2272A>G (n.*2272A>G) c.1965A>G (p.Ser655=) | ClinVar gnomAD v3 gnomAD v4 |
| 19 | g.40396285T>G | CA507679532 | PRX | c.2067A>C (p.Ser689=) c.1650A>C (p.Ser550=) c.2352A>C (p.Ser784=) c.1942A>C c.1928A>C c.2029A>C c.1954A>C c.*2272A>C (n.*2272A>C) c.1965A>C (p.Ser655=) | gnomAD v4 |
| 19 | g.40396285_40396286del | CA2335961563 | PRX | c.2066_2067del (p.Ser689Ter) c.1649_1650del (p.Ser550Ter) c.2351_2352del (p.Ser784Ter) c.1941_1942del c.1927_1928del c.2028_2029del c.1953_1954del c.*2271_*2272del (n.*2271_*2272del) c.1964_1965del (p.Ser655Ter) | dbSNP gnomAD v4 |
| 19 | g.40396286G>A | CA405897077 | PRX | c.2066C>T (p.Ser689Leu) c.1649C>T (p.Ser550Leu) c.2351C>T (p.Ser784Leu) c.1941C>T c.1927C>T c.2028C>T c.1953C>T c.*2271C>T (n.*2271C>T) c.1964C>T (p.Ser655Leu) | gnomAD v4 |
| 19 | g.40396286G>C | CA405897078 | PRX | c.2066C>G (p.Ser689Ter) c.1649C>G (p.Ser550Ter) c.2351C>G (p.Ser784Ter) c.1941C>G c.1927C>G c.2028C>G c.1953C>G c.*2271C>G (n.*2271C>G) c.1964C>G (p.Ser655Ter) | |
| 19 | g.40396286G>T | CA405897079 | PRX | c.2066C>A (p.Ser689Ter) c.1649C>A (p.Ser550Ter) c.2351C>A (p.Ser784Ter) c.1941C>A c.1927C>A c.2028C>A c.1953C>A c.*2271C>A (n.*2271C>A) c.1964C>A (p.Ser655Ter) | |
| 19 | g.40396286_40396287insGGAGCTTCATGTCAGGGACTTTCATTTCAC | CA2585127091 | PRX | c.2065_2066insGTGAAATGAAAGTCCCTGACATGAAGCTCC (p.Ser689delinsCysGluMetLysValProAspMetLysLeuPro) c.1648_1649insGTGAAATGAAAGTCCCTGACATGAAGCTCC (p.Ser550delinsCysGluMetLysValProAspMetLysLeuPro) c.2350_2351insGTGAAATGAAAGTCCCTGACATGAAGCTCC (p.Ser784delinsCysGluMetLysValProAspMetLysLeuPro) c.1940_1941insGTGAAATGAAAGTCCCTGACATGAAGCTCC c.1926_1927insGTGAAATGAAAGTCCCTGACATGAAGCTCC c.2027_2028insGTGAAATGAAAGTCCCTGACATGAAGCTCC c.1952_1953insGTGAAATGAAAGTCCCTGACATGAAGCTCC c.*2270_*2271insGTGAAATGAAAGTCCCTGACATGAAGCTCC (n.*2270_*2271insGTGAAATGAAAGTCCCTGACATGAAGCTCC) c.1963_1964insGTGAAATGAAAGTCCCTGACATGAAGCTCC (p.Ser655delinsCysGluMetLysValProAspMetLysLeuPro) | gnomAD v4 |
| 19 | g.40396287A= | CA2335961564 | PRX | c.2065T= (p.Ser689=) c.1648T= (p.Ser550=) c.2350T= (p.Ser784=) c.1940T= c.1926T= c.2027T= c.1952T= c.*2270T= (n.*2270T=) c.1963T= (p.Ser655=) | |
| 19 | g.40396287A>C | CA405897081 | PRX | c.2065T>G (p.Ser689Ala) c.1648T>G (p.Ser550Ala) c.2350T>G (p.Ser784Ala) c.1940T>G c.1926T>G c.2027T>G c.1952T>G c.*2270T>G (n.*2270T>G) c.1963T>G (p.Ser655Ala) | |
| 19 | g.40396287A>G | CA9444128 | PRX | c.2065T>C (p.Ser689Pro) c.1648T>C (p.Ser550Pro) c.2350T>C (p.Ser784Pro) c.1940T>C c.1926T>C c.2027T>C c.1952T>C c.*2270T>C (n.*2270T>C) c.1963T>C (p.Ser655Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396287A>T | CA405897080 | PRX | c.2065T>A (p.Ser689Thr) c.1648T>A (p.Ser550Thr) c.2350T>A (p.Ser784Thr) c.1940T>A c.1926T>A c.2027T>A c.1952T>A c.*2270T>A (n.*2270T>A) c.1963T>A (p.Ser655Thr) | |
| 19 | g.40396288G>A | CA507679533 | PRX | c.2064C>T (p.Val688=) c.1647C>T (p.Val549=) c.2349C>T (p.Val783=) c.1939C>T c.1925C>T c.2026C>T c.1951C>T c.*2269C>T (n.*2269C>T) c.1962C>T (p.Val654=) | gnomAD v4 |
| 19 | g.40396288G>C | CA507679534 | PRX | c.2064C>G (p.Val688=) c.1647C>G (p.Val549=) c.2349C>G (p.Val783=) c.1939C>G c.1925C>G c.2026C>G c.1951C>G c.*2269C>G (n.*2269C>G) c.1962C>G (p.Val654=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396288G= | CA2335961565 | PRX | c.2064C= (p.Val688=) c.1647C= (p.Val549=) c.2349C= (p.Val783=) c.1939C= c.1925C= c.2026C= c.1951C= c.*2269C= (n.*2269C=) c.1962C= (p.Val654=) | |
| 19 | g.40396288G>T | CA507679535 | PRX | c.2064C>A (p.Val688=) c.1647C>A (p.Val549=) c.2349C>A (p.Val783=) c.1939C>A c.1925C>A c.2026C>A c.1951C>A c.*2269C>A (n.*2269C>A) c.1962C>A (p.Val654=) | |
| 19 | g.40396289A>C | CA405897082 | PRX | c.2063T>G (p.Val688Gly) c.1646T>G (p.Val549Gly) c.2348T>G (p.Val783Gly) c.1938T>G c.1924T>G c.2025T>G c.1950T>G c.*2268T>G (n.*2268T>G) c.1961T>G (p.Val654Gly) | |
| 19 | g.40396289A>G | CA405897083 | PRX | c.2063T>C (p.Val688Ala) c.1646T>C (p.Val549Ala) c.2348T>C (p.Val783Ala) c.1938T>C c.1924T>C c.2025T>C c.1950T>C c.*2268T>C (n.*2268T>C) c.1961T>C (p.Val654Ala) | |
| 19 | g.40396289A>T | CA405897084 | PRX | c.2063T>A (p.Val688Asp) c.1646T>A (p.Val549Asp) c.2348T>A (p.Val783Asp) c.1938T>A c.1924T>A c.2025T>A c.1950T>A c.*2268T>A (n.*2268T>A) c.1961T>A (p.Val654Asp) | |
| 19 | g.40396290C>A | CA405897085 | PRX | c.2062G>T (p.Val688Phe) c.1645G>T (p.Val549Phe) c.2347G>T (p.Val783Phe) c.1937G>T c.1923G>T c.2024G>T c.1949G>T c.*2267G>T (n.*2267G>T) c.1960G>T (p.Val654Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396290C= | CA2335961566 | PRX | c.2062G= (p.Val688=) c.1645G= (p.Val549=) c.2347G= (p.Val783=) c.1937G= c.1923G= c.2024G= c.1949G= c.*2267G= (n.*2267G=) c.1960G= (p.Val654=) | |
| 19 | g.40396290C>G | CA405897086 | PRX | c.2062G>C (p.Val688Leu) c.1645G>C (p.Val549Leu) c.2347G>C (p.Val783Leu) c.1937G>C c.1923G>C c.2024G>C c.1949G>C c.*2267G>C (n.*2267G>C) c.1960G>C (p.Val654Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396290C>T | CA405897087 | PRX | c.2062G>A (p.Val688Ile) c.1645G>A (p.Val549Ile) c.2347G>A (p.Val783Ile) c.1937G>A c.1923G>A c.2024G>A c.1949G>A c.*2267G>A (n.*2267G>A) c.1960G>A (p.Val654Ile) | |
| 19 | g.40396291T>A | CA405897089 | PRX | c.2061A>T (p.Lys687Asn) c.1644A>T (p.Lys548Asn) c.2346A>T (p.Lys782Asn) c.1936A>T c.1922A>T c.2023A>T c.1948A>T c.*2266A>T (n.*2266A>T) c.1959A>T (p.Lys653Asn) | |
| 19 | g.40396291T>C | CA507679539 | PRX | c.2061A>G (p.Lys687=) c.1644A>G (p.Lys548=) c.2346A>G (p.Lys782=) c.1936A>G c.1922A>G c.2023A>G c.1948A>G c.*2266A>G (n.*2266A>G) c.1959A>G (p.Lys653=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396291T>G | CA405897088 | PRX | c.2061A>C (p.Lys687Asn) c.1644A>C (p.Lys548Asn) c.2346A>C (p.Lys782Asn) c.1936A>C c.1922A>C c.2023A>C c.1948A>C c.*2266A>C (n.*2266A>C) c.1959A>C (p.Lys653Asn) | COSMIC |
| 19 | g.40396294del | CA2585127092 | PRX | c.2061del (p.Val688SerfsTer4) c.1644del (p.Val549SerfsTer4) c.2346del (p.Val783SerfsTer4) c.1936del c.1922del c.2023del c.1948del c.*2266del (n.*2266del) c.1959del (p.Val654SerfsTer4) | gnomAD v4 |
| 19 | g.40396292T>A | CA405897090 | PRX | c.2060A>T (p.Lys687Ile) c.1643A>T (p.Lys548Ile) c.2345A>T (p.Lys782Ile) c.1935A>T c.1921A>T c.2022A>T c.1947A>T c.*2265A>T (n.*2265A>T) c.1958A>T (p.Lys653Ile) | |
| 19 | g.40396292T>C | CA405897091 | PRX | c.2060A>G (p.Lys687Arg) c.1643A>G (p.Lys548Arg) c.2345A>G (p.Lys782Arg) c.1935A>G c.1921A>G c.2022A>G c.1947A>G c.*2265A>G (n.*2265A>G) c.1958A>G (p.Lys653Arg) | |
| 19 | g.40396292T>G | CA405897092 | PRX | c.2060A>C (p.Lys687Thr) c.1643A>C (p.Lys548Thr) c.2345A>C (p.Lys782Thr) c.1935A>C c.1921A>C c.2022A>C c.1947A>C c.*2265A>C (n.*2265A>C) c.1958A>C (p.Lys653Thr) | |
| 19 | g.40396293T>A | CA405897093 | PRX | c.2059A>T (p.Lys687Ter) c.1642A>T (p.Lys548Ter) c.2344A>T (p.Lys782Ter) c.1934A>T c.1920A>T c.2021A>T c.1946A>T c.*2264A>T (n.*2264A>T) c.1957A>T (p.Lys653Ter) | |
| 19 | g.40396293T>C | CA405897094 | PRX | c.2059A>G (p.Lys687Glu) c.1642A>G (p.Lys548Glu) c.2344A>G (p.Lys782Glu) c.1934A>G c.1920A>G c.2021A>G c.1946A>G c.*2264A>G (n.*2264A>G) c.1957A>G (p.Lys653Glu) | gnomAD v4 |
| 19 | g.40396293T>G | CA405897095 | PRX | c.2059A>C (p.Lys687Gln) c.1642A>C (p.Lys548Gln) c.2344A>C (p.Lys782Gln) c.1934A>C c.1920A>C c.2021A>C c.1946A>C c.*2264A>C (n.*2264A>C) c.1957A>C (p.Lys653Gln) | |
| 19 | g.40396294T>A | CA507679543 | PRX | c.2058A>T (p.Pro686=) c.1641A>T (p.Pro547=) c.2343A>T (p.Pro781=) c.1933A>T c.1919A>T c.2020A>T c.1945A>T c.*2263A>T (n.*2263A>T) c.1956A>T (p.Pro652=) | |
| 19 | g.40396294T>C | CA507679541 | PRX | c.2058A>G (p.Pro686=) c.1641A>G (p.Pro547=) c.2343A>G (p.Pro781=) c.1933A>G c.1919A>G c.2020A>G c.1945A>G c.*2263A>G (n.*2263A>G) c.1956A>G (p.Pro652=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396294T>G | CA507679540 | PRX | c.2058A>C (p.Pro686=) c.1641A>C (p.Pro547=) c.2343A>C (p.Pro781=) c.1933A>C c.1919A>C c.2020A>C c.1945A>C c.*2263A>C (n.*2263A>C) c.1956A>C (p.Pro652=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396294T= | CA2335961567 | PRX | c.2058A= (p.Pro686=) c.1641A= (p.Pro547=) c.2343A= (p.Pro781=) c.1933A= c.1919A= c.2020A= c.1945A= c.*2263A= (n.*2263A=) c.1956A= (p.Pro652=) | |
| 19 | g.40396294_40396302del | CA2562890239 | PRX | c.2050_2058del (p.Gln684_Pro686del) c.1633_1641del (p.Gln545_Pro547del) c.2335_2343del (p.Gln779_Pro781del) c.1925_1933del c.1911_1919del c.2012_2020del c.1937_1945del c.*2255_*2263del (n.*2255_*2263del) c.1948_1956del (p.Gln650_Pro652del) | |
| 19 | g.40396295G>A | CA405897096 | PRX | c.2057C>T (p.Pro686Leu) c.1640C>T (p.Pro547Leu) c.2342C>T (p.Pro781Leu) c.1932C>T c.1918C>T c.2019C>T c.1944C>T c.*2262C>T (n.*2262C>T) c.1955C>T (p.Pro652Leu) | |
| 19 | g.40396295G>C | CA405897098 | PRX | c.2057C>G (p.Pro686Arg) c.1640C>G (p.Pro547Arg) c.2342C>G (p.Pro781Arg) c.1932C>G c.1918C>G c.2019C>G c.1944C>G c.*2262C>G (n.*2262C>G) c.1955C>G (p.Pro652Arg) | |
| 19 | g.40396295G>T | CA405897097 | PRX | c.2057C>A (p.Pro686Gln) c.1640C>A (p.Pro547Gln) c.2342C>A (p.Pro781Gln) c.1932C>A c.1918C>A c.2019C>A c.1944C>A c.*2262C>A (n.*2262C>A) c.1955C>A (p.Pro652Gln) | |
| 19 | g.40396296G>A | CA405897099 | PRX | c.2056C>T (p.Pro686Ser) c.1639C>T (p.Pro547Ser) c.2341C>T (p.Pro781Ser) c.1931C>T c.1917C>T c.2018C>T c.1943C>T c.*2261C>T (n.*2261C>T) c.1954C>T (p.Pro652Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396296G>C | CA405897100 | PRX | c.2056C>G (p.Pro686Ala) c.1639C>G (p.Pro547Ala) c.2341C>G (p.Pro781Ala) c.1931C>G c.1917C>G c.2018C>G c.1943C>G c.*2261C>G (n.*2261C>G) c.1954C>G (p.Pro652Ala) | |
| 19 | g.40396296G= | CA2335961568 | PRX | c.2056C= (p.Pro686=) c.1639C= (p.Pro547=) c.2341C= (p.Pro781=) c.1931C= c.1917C= c.2018C= c.1943C= c.*2261C= (n.*2261C=) c.1954C= (p.Pro652=) | |
| 19 | g.40396296G>T | CA9444129 | PRX | c.2056C>A (p.Pro686Thr) c.1639C>A (p.Pro547Thr) c.2341C>A (p.Pro781Thr) c.1931C>A c.1917C>A c.2018C>A c.1943C>A c.*2261C>A (n.*2261C>A) c.1954C>A (p.Pro652Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396297C>A | CA507679547 | PRX | c.2055G>T (p.Leu685=) c.1638G>T (p.Leu546=) c.2340G>T (p.Leu780=) c.1930G>T c.1916G>T c.2017G>T c.1942G>T c.*2260G>T (n.*2260G>T) c.1953G>T (p.Leu651=) | |
| 19 | g.40396297C>G | CA507679546 | PRX | c.2055G>C (p.Leu685=) c.1638G>C (p.Leu546=) c.2340G>C (p.Leu780=) c.1930G>C c.1916G>C c.2017G>C c.1942G>C c.*2260G>C (n.*2260G>C) c.1953G>C (p.Leu651=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396297C>T | CA507679545 | PRX | c.2055G>A (p.Leu685=) c.1638G>A (p.Leu546=) c.2340G>A (p.Leu780=) c.1930G>A c.1916G>A c.2017G>A c.1942G>A c.*2260G>A (n.*2260G>A) c.1953G>A (p.Leu651=) | |
| 19 | g.40396298A>C | CA405897101 | PRX | c.2054T>G (p.Leu685Arg) c.1637T>G (p.Leu546Arg) c.2339T>G (p.Leu780Arg) c.1929T>G c.1915T>G c.2016T>G c.1941T>G c.*2259T>G (n.*2259T>G) c.1952T>G (p.Leu651Arg) | |
| 19 | g.40396298A>G | CA405897102 | PRX | c.2054T>C (p.Leu685Pro) c.1637T>C (p.Leu546Pro) c.2339T>C (p.Leu780Pro) c.1929T>C c.1915T>C c.2016T>C c.1941T>C c.*2259T>C (n.*2259T>C) c.1952T>C (p.Leu651Pro) | |
| 19 | g.40396298A>T | CA405897103 | PRX | c.2054T>A (p.Leu685Gln) c.1637T>A (p.Leu546Gln) c.2339T>A (p.Leu780Gln) c.1929T>A c.1915T>A c.2016T>A c.1941T>A c.*2259T>A (n.*2259T>A) c.1952T>A (p.Leu651Gln) | |
| 19 | g.40396299G>A | CA507679549 | PRX | c.2053C>T (p.Leu685=) c.1636C>T (p.Leu546=) c.2338C>T (p.Leu780=) c.1928C>T c.1914C>T c.2015C>T c.1940C>T c.*2258C>T (n.*2258C>T) c.1951C>T (p.Leu651=) | |
| 19 | g.40396299G>C | CA405897104 | PRX | c.2053C>G (p.Leu685Val) c.1636C>G (p.Leu546Val) c.2338C>G (p.Leu780Val) c.1928C>G c.1914C>G c.2015C>G c.1940C>G c.*2258C>G (n.*2258C>G) c.1951C>G (p.Leu651Val) | gnomAD v4 |
| 19 | g.40396299G>T | CA405897105 | PRX | c.2053C>A (p.Leu685Met) c.1636C>A (p.Leu546Met) c.2338C>A (p.Leu780Met) c.1928C>A c.1914C>A c.2015C>A c.1940C>A c.*2258C>A (n.*2258C>A) c.1951C>A (p.Leu651Met) | |
| 19 | g.40396300C>A | CA405897106 | PRX | c.2052G>T (p.Gln684His) c.1635G>T (p.Gln545His) c.2337G>T (p.Gln779His) c.1927G>T c.1913G>T c.2014G>T c.1939G>T c.*2257G>T (n.*2257G>T) c.1950G>T (p.Gln650His) | |
| 19 | g.40396300C>G | CA405897107 | PRX | c.2052G>C (p.Gln684His) c.1635G>C (p.Gln545His) c.2337G>C (p.Gln779His) c.1927G>C c.1913G>C c.2014G>C c.1939G>C c.*2257G>C (n.*2257G>C) c.1950G>C (p.Gln650His) | |
| 19 | g.40396300C>T | CA507679550 | PRX | c.2052G>A (p.Gln684=) c.1635G>A (p.Gln545=) c.2337G>A (p.Gln779=) c.1927G>A c.1913G>A c.2014G>A c.1939G>A c.*2257G>A (n.*2257G>A) c.1950G>A (p.Gln650=) | gnomAD v4 |
| 19 | g.40396301T>A | CA405897108 | PRX | c.2051A>T (p.Gln684Leu) c.1634A>T (p.Gln545Leu) c.2336A>T (p.Gln779Leu) c.1926A>T c.1912A>T c.2013A>T c.1938A>T c.*2256A>T (n.*2256A>T) c.1949A>T (p.Gln650Leu) | |
| 19 | g.40396301T>C | CA405897110 | PRX | c.2051A>G (p.Gln684Arg) c.1634A>G (p.Gln545Arg) c.2336A>G (p.Gln779Arg) c.1926A>G c.1912A>G c.2013A>G c.1938A>G c.*2256A>G (n.*2256A>G) c.1949A>G (p.Gln650Arg) | |
| 19 | g.40396301T>G | CA405897109 | PRX | c.2051A>C (p.Gln684Pro) c.1634A>C (p.Gln545Pro) c.2336A>C (p.Gln779Pro) c.1926A>C c.1912A>C c.2013A>C c.1938A>C c.*2256A>C (n.*2256A>C) c.1949A>C (p.Gln650Pro) | |
| 19 | g.40396302G>A | CA405897111 | PRX | c.2050C>T (p.Gln684Ter) c.1633C>T (p.Gln545Ter) c.2335C>T (p.Gln779Ter) c.1925C>T c.1911C>T c.2012C>T c.1937C>T c.*2255C>T (n.*2255C>T) c.1948C>T (p.Gln650Ter) | ClinVar dbSNP |
| 19 | g.40396302G>C | CA405897113 | PRX | c.2050C>G (p.Gln684Glu) c.1633C>G (p.Gln545Glu) c.2335C>G (p.Gln779Glu) c.1925C>G c.1911C>G c.2012C>G c.1937C>G c.*2255C>G (n.*2255C>G) c.1948C>G (p.Gln650Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396302G= | CA2335961569 | PRX | c.2050C= (p.Gln684=) c.1633C= (p.Gln545=) c.2335C= (p.Gln779=) c.1925C= c.1911C= c.2012C= c.1937C= c.*2255C= (n.*2255C=) c.1948C= (p.Gln650=) | |
| 19 | g.40396302G>T | CA405897112 | PRX | c.2050C>A (p.Gln684Lys) c.1633C>A (p.Gln545Lys) c.2335C>A (p.Gln779Lys) c.1925C>A c.1911C>A c.2012C>A c.1937C>A c.*2255C>A (n.*2255C>A) c.1948C>A (p.Gln650Lys) | |
| 19 | g.40396303C>A | CA308419747 | PRX | c.2049G>T (p.Val683=) c.1632G>T (p.Val544=) c.2334G>T (p.Val778=) c.1924G>T c.1910G>T c.2011G>T c.1936G>T c.*2254G>T (n.*2254G>T) c.1947G>T (p.Val649=) | dbSNP gnomAD v4 |
| 19 | g.40396303C= | CA2335961570 | PRX | c.2049G= (p.Val683=) c.1632G= (p.Val544=) c.2334G= (p.Val778=) c.1924G= c.1910G= c.2011G= c.1936G= c.*2254G= (n.*2254G=) c.1947G= (p.Val649=) | |
| 19 | g.40396303C>G | CA507679551 | PRX | c.2049G>C (p.Val683=) c.1632G>C (p.Val544=) c.2334G>C (p.Val778=) c.1924G>C c.1910G>C c.2011G>C c.1936G>C c.*2254G>C (n.*2254G>C) c.1947G>C (p.Val649=) | |
| 19 | g.40396303C>T | CA507679552 | PRX | c.2049G>A (p.Val683=) c.1632G>A (p.Val544=) c.2334G>A (p.Val778=) c.1924G>A c.1910G>A c.2011G>A c.1936G>A c.*2254G>A (n.*2254G>A) c.1947G>A (p.Val649=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396304A>C | CA405897114 | PRX | c.2048T>G (p.Val683Gly) c.1631T>G (p.Val544Gly) c.2333T>G (p.Val778Gly) c.1923T>G c.1909T>G c.2010T>G c.1935T>G c.*2253T>G (n.*2253T>G) c.1946T>G (p.Val649Gly) | |
| 19 | g.40396304A>G | CA405897116 | PRX | c.2048T>C (p.Val683Ala) c.1631T>C (p.Val544Ala) c.2333T>C (p.Val778Ala) c.1923T>C c.1909T>C c.2010T>C c.1935T>C c.*2253T>C (n.*2253T>C) c.1946T>C (p.Val649Ala) | |
| 19 | g.40396304A>T | CA405897115 | PRX | c.2048T>A (p.Val683Glu) c.1631T>A (p.Val544Glu) c.2333T>A (p.Val778Glu) c.1923T>A c.1909T>A c.2010T>A c.1935T>A c.*2253T>A (n.*2253T>A) c.1946T>A (p.Val649Glu) | gnomAD v4 |
| 19 | g.40396305C>A | CA405897117 | PRX | c.2047G>T (p.Val683Leu) c.1630G>T (p.Val544Leu) c.2332G>T (p.Val778Leu) c.1922G>T c.1908G>T c.2009G>T c.1934G>T c.*2252G>T (n.*2252G>T) c.1945G>T (p.Val649Leu) | |
| 19 | g.40396305C= | CA2335961571 | PRX | c.2047G= (p.Val683=) c.1630G= (p.Val544=) c.2332G= (p.Val778=) c.1922G= c.1908G= c.2009G= c.1934G= c.*2252G= (n.*2252G=) c.1945G= (p.Val649=) | |
| 19 | g.40396305C>G | CA405897118 | PRX | c.2047G>C (p.Val683Leu) c.1630G>C (p.Val544Leu) c.2332G>C (p.Val778Leu) c.1922G>C c.1908G>C c.2009G>C c.1934G>C c.*2252G>C (n.*2252G>C) c.1945G>C (p.Val649Leu) | gnomAD v4 |
| 19 | g.40396305C>T | CA9444130 | PRX | c.2047G>A (p.Val683Met) c.1630G>A (p.Val544Met) c.2332G>A (p.Val778Met) c.1922G>A c.1908G>A c.2009G>A c.1934G>A c.*2252G>A (n.*2252G>A) c.1945G>A (p.Val649Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396306C>A | CA405897119 | PRX | c.2046G>T (p.Glu682Asp) c.1629G>T (p.Glu543Asp) c.2331G>T (p.Glu777Asp) c.1921G>T c.1907G>T c.2008G>T c.1933G>T c.*2251G>T (n.*2251G>T) c.1944G>T (p.Glu648Asp) | |
| 19 | g.40396306C>G | CA405897120 | PRX | c.2046G>C (p.Glu682Asp) c.1629G>C (p.Glu543Asp) c.2331G>C (p.Glu777Asp) c.1921G>C c.1907G>C c.2008G>C c.1933G>C c.*2251G>C (n.*2251G>C) c.1944G>C (p.Glu648Asp) | |
| 19 | g.40396306C>T | CA507679553 | PRX | c.2046G>A (p.Glu682=) c.1629G>A (p.Glu543=) c.2331G>A (p.Glu777=) c.1921G>A c.1907G>A c.2008G>A c.1933G>A c.*2251G>A (n.*2251G>A) c.1944G>A (p.Glu648=) | 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.40396307T>A | CA405897121 | PRX | c.2045A>T (p.Glu682Val) c.1628A>T (p.Glu543Val) c.2330A>T (p.Glu777Val) c.1920A>T c.1906A>T c.2007A>T c.1932A>T c.*2250A>T (n.*2250A>T) c.1943A>T (p.Glu648Val) | |
| 19 | g.40396307T>C | CA405897122 | PRX | c.2045A>G (p.Glu682Gly) c.1628A>G (p.Glu543Gly) c.2330A>G (p.Glu777Gly) c.1920A>G c.1906A>G c.2007A>G c.1932A>G c.*2250A>G (n.*2250A>G) c.1943A>G (p.Glu648Gly) | |
| 19 | g.40396307T>G | CA405897123 | PRX | c.2045A>C (p.Glu682Ala) c.1628A>C (p.Glu543Ala) c.2330A>C (p.Glu777Ala) c.1920A>C c.1906A>C c.2007A>C c.1932A>C c.*2250A>C (n.*2250A>C) c.1943A>C (p.Glu648Ala) | |
| 19 | g.40396308C>A | CA405897124 | PRX | c.2044G>T (p.Glu682Ter) c.1627G>T (p.Glu543Ter) c.2329G>T (p.Glu777Ter) c.1919G>T c.1905G>T c.2006G>T c.1931G>T c.*2249G>T (n.*2249G>T) c.1942G>T (p.Glu648Ter) | ClinVar dbSNP COSMIC |
| 19 | g.40396308C= | CA2335961572 | PRX | c.2044G= (p.Glu682=) c.1627G= (p.Glu543=) c.2329G= (p.Glu777=) c.1919G= c.1905G= c.2006G= c.1931G= c.*2249G= (n.*2249G=) c.1942G= (p.Glu648=) | |
| 19 | g.40396308C>G | CA405897125 | PRX | c.2044G>C (p.Glu682Gln) c.1627G>C (p.Glu543Gln) c.2329G>C (p.Glu777Gln) c.1919G>C c.1905G>C c.2006G>C c.1931G>C c.*2249G>C (n.*2249G>C) c.1942G>C (p.Glu648Gln) | |
| 19 | g.40396308C>T | CA9444131 | PRX | c.2044G>A (p.Glu682Lys) c.1627G>A (p.Glu543Lys) c.2329G>A (p.Glu777Lys) c.1919G>A c.1905G>A c.2006G>A c.1931G>A c.*2249G>A (n.*2249G>A) c.1942G>A (p.Glu648Lys) | ClinVar dbSNP ExAC 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) | |
| 19 | g.40396321C>A | CA308419772 | PRX | c.2031G>T (p.Glu677Asp) c.1614G>T (p.Glu538Asp) c.2316G>T (p.Glu772Asp) c.1906G>T c.1892G>T c.1993G>T c.1918G>T c.*2236G>T (n.*2236G>T) c.1929G>T (p.Glu643Asp) | dbSNP |
| 19 | g.40396321C= | CA2335961579 | PRX | c.2031G= (p.Glu677=) c.1614G= (p.Glu538=) c.2316G= (p.Glu772=) c.1906G= c.1892G= c.1993G= c.1918G= c.*2236G= (n.*2236G=) c.1929G= (p.Glu643=) | |
| 19 | g.40396321C>G | CA405897147 | PRX | c.2031G>C (p.Glu677Asp) c.1614G>C (p.Glu538Asp) c.2316G>C (p.Glu772Asp) c.1906G>C c.1892G>C c.1993G>C c.1918G>C c.*2236G>C (n.*2236G>C) c.1929G>C (p.Glu643Asp) | |
| 19 | g.40396321C>T | CA9444136 | PRX | c.2031G>A (p.Glu677=) c.1614G>A (p.Glu538=) c.2316G>A (p.Glu772=) c.1906G>A c.1892G>A c.1993G>A c.1918G>A c.*2236G>A (n.*2236G>A) c.1929G>A (p.Glu643=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396322T>A | CA405897150 | PRX | c.2030A>T (p.Glu677Val) c.1613A>T (p.Glu538Val) c.2315A>T (p.Glu772Val) c.1905A>T c.1891A>T c.1992A>T c.1917A>T c.*2235A>T (n.*2235A>T) c.1928A>T (p.Glu643Val) | |
| 19 | g.40396322T>C | CA405897149 | PRX | c.2030A>G (p.Glu677Gly) c.1613A>G (p.Glu538Gly) c.2315A>G (p.Glu772Gly) c.1905A>G c.1891A>G c.1992A>G c.1917A>G c.*2235A>G (n.*2235A>G) c.1928A>G (p.Glu643Gly) | |
| 19 | g.40396322T>G | CA405897148 | PRX | c.2030A>C (p.Glu677Ala) c.1613A>C (p.Glu538Ala) c.2315A>C (p.Glu772Ala) c.1905A>C c.1891A>C c.1992A>C c.1917A>C c.*2235A>C (n.*2235A>C) c.1928A>C (p.Glu643Ala) | |
| 19 | g.40396323C>A | CA405897151 | PRX | c.2029G>T (p.Glu677Ter) c.1612G>T (p.Glu538Ter) c.2314G>T (p.Glu772Ter) c.1904G>T c.1890G>T c.1991G>T c.1916G>T c.*2234G>T (n.*2234G>T) c.1927G>T (p.Glu643Ter) | |
| 19 | g.40396323C>G | CA405897152 | PRX | c.2029G>C (p.Glu677Gln) c.1612G>C (p.Glu538Gln) c.2314G>C (p.Glu772Gln) c.1904G>C c.1890G>C c.1991G>C c.1916G>C c.*2234G>C (n.*2234G>C) c.1927G>C (p.Glu643Gln) | |
| 19 | g.40396323C>T | CA405897153 | PRX | c.2029G>A (p.Glu677Lys) c.1612G>A (p.Glu538Lys) c.2314G>A (p.Glu772Lys) c.1904G>A c.1890G>A c.1991G>A c.1916G>A c.*2234G>A (n.*2234G>A) c.1927G>A (p.Glu643Lys) | COSMIC |
| 19 | g.40396324T>A | CA507679571 | PRX | c.2028A>T (p.Pro676=) c.1611A>T (p.Pro537=) c.2313A>T (p.Pro771=) c.1903A>T c.1889A>T c.1990A>T c.1915A>T c.*2233A>T (n.*2233A>T) c.1926A>T (p.Pro642=) | |
| 19 | g.40396324T>C | CA507679572 | PRX | c.2028A>G (p.Pro676=) c.1611A>G (p.Pro537=) c.2313A>G (p.Pro771=) c.1903A>G c.1889A>G c.1990A>G c.1915A>G c.*2233A>G (n.*2233A>G) c.1926A>G (p.Pro642=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396324T>G | CA507679573 | PRX | c.2028A>C (p.Pro676=) c.1611A>C (p.Pro537=) c.2313A>C (p.Pro771=) c.1903A>C c.1889A>C c.1990A>C c.1915A>C c.*2233A>C (n.*2233A>C) c.1926A>C (p.Pro642=) | |
| 19 | g.40396325G>A | CA405897154 | PRX | c.2027C>T (p.Pro676Leu) c.1610C>T (p.Pro537Leu) c.2312C>T (p.Pro771Leu) c.1902C>T c.1888C>T c.1989C>T c.1914C>T c.*2232C>T (n.*2232C>T) c.1925C>T (p.Pro642Leu) | |
| 19 | g.40396325G>C | CA405897155 | PRX | c.2027C>G (p.Pro676Arg) c.1610C>G (p.Pro537Arg) c.2312C>G (p.Pro771Arg) c.1902C>G c.1888C>G c.1989C>G c.1914C>G c.*2232C>G (n.*2232C>G) c.1925C>G (p.Pro642Arg) | |
| 19 | g.40396325G>T | CA405897156 | PRX | c.2027C>A (p.Pro676Gln) c.1610C>A (p.Pro537Gln) c.2312C>A (p.Pro771Gln) c.1902C>A c.1888C>A c.1989C>A c.1914C>A c.*2232C>A (n.*2232C>A) c.1925C>A (p.Pro642Gln) | |
| 19 | g.40396326G>A | CA405897157 | PRX | c.2026C>T (p.Pro676Ser) c.1609C>T (p.Pro537Ser) c.2311C>T (p.Pro771Ser) c.1901C>T c.1887C>T c.1988C>T c.1913C>T c.*2231C>T (n.*2231C>T) c.1924C>T (p.Pro642Ser) | |
| 19 | g.40396326G>C | CA405897158 | PRX | c.2026C>G (p.Pro676Ala) c.1609C>G (p.Pro537Ala) c.2311C>G (p.Pro771Ala) c.1901C>G c.1887C>G c.1988C>G c.1913C>G c.*2231C>G (n.*2231C>G) c.1924C>G (p.Pro642Ala) | |
| 19 | g.40396326G>T | CA405897159 | PRX | c.2026C>A (p.Pro676Thr) c.1609C>A (p.Pro537Thr) c.2311C>A (p.Pro771Thr) c.1901C>A c.1887C>A c.1988C>A c.1913C>A c.*2231C>A (n.*2231C>A) c.1924C>A (p.Pro642Thr) | |
| 19 | g.40396327C>A | CA507679574 | PRX | c.2025G>T (p.Val675=) c.1608G>T (p.Val536=) c.2310G>T (p.Val770=) c.1900G>T c.1886G>T c.1987G>T c.1912G>T c.*2230G>T (n.*2230G>T) c.1923G>T (p.Val641=) | |
| 19 | g.40396327C>G | CA507679576 | PRX | c.2025G>C (p.Val675=) c.1608G>C (p.Val536=) c.2310G>C (p.Val770=) c.1900G>C c.1886G>C c.1987G>C c.1912G>C c.*2230G>C (n.*2230G>C) c.1923G>C (p.Val641=) | |
| 19 | g.40396327C>T | CA507679575 | PRX | c.2025G>A (p.Val675=) c.1608G>A (p.Val536=) c.2310G>A (p.Val770=) c.1900G>A c.1886G>A c.1987G>A c.1912G>A c.*2230G>A (n.*2230G>A) c.1923G>A (p.Val641=) | |
| 19 | g.40396328A>C | CA405897160 | PRX | c.2024T>G (p.Val675Gly) c.1607T>G (p.Val536Gly) c.2309T>G (p.Val770Gly) c.1899T>G c.1885T>G c.1986T>G c.1911T>G c.*2229T>G (n.*2229T>G) c.1922T>G (p.Val641Gly) | |
| 19 | g.40396328A>G | CA405897161 | PRX | c.2024T>C (p.Val675Ala) c.1607T>C (p.Val536Ala) c.2309T>C (p.Val770Ala) c.1899T>C c.1885T>C c.1986T>C c.1911T>C c.*2229T>C (n.*2229T>C) c.1922T>C (p.Val641Ala) | |
| 19 | g.40396328A>T | CA405897162 | PRX | c.2024T>A (p.Val675Glu) c.1607T>A (p.Val536Glu) c.2309T>A (p.Val770Glu) c.1899T>A c.1885T>A c.1986T>A c.1911T>A c.*2229T>A (n.*2229T>A) c.1922T>A (p.Val641Glu) | |
| 19 | g.40396329C>A | CA405897165 | PRX | c.2023G>T (p.Val675Leu) c.1606G>T (p.Val536Leu) c.2308G>T (p.Val770Leu) c.1898G>T c.1884G>T c.1985G>T c.1910G>T c.*2228G>T (n.*2228G>T) c.1921G>T (p.Val641Leu) | |
| 19 | g.40396329C= | CA2335961580 | PRX | c.2023G= (p.Val675=) c.1606G= (p.Val536=) c.2308G= (p.Val770=) c.1898G= c.1884G= c.1985G= c.1910G= c.*2228G= (n.*2228G=) c.1921G= (p.Val641=) | |
| 19 | g.40396329C>G | CA405897164 | PRX | c.2023G>C (p.Val675Leu) c.1606G>C (p.Val536Leu) c.2308G>C (p.Val770Leu) c.1898G>C c.1884G>C c.1985G>C c.1910G>C c.*2228G>C (n.*2228G>C) c.1921G>C (p.Val641Leu) | |
| 19 | g.40396329C>T | CA405897163 | PRX | c.2023G>A (p.Val675Met) c.1606G>A (p.Val536Met) c.2308G>A (p.Val770Met) c.1898G>A c.1884G>A c.1985G>A c.1910G>A c.*2228G>A (n.*2228G>A) c.1921G>A (p.Val641Met) | dbSNP gnomAD v2 gnomAD v4 |