Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.40396123_40396230delCA995889216PRXc.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
19g.40396123_40396231delinsGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTCA2335961475PRXc.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=)
19g.40396144_40396251delCA633466290PRXc.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
19g.40396158_40396343dupCA2573156370PRXc.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
19g.40396171_40396278delCA995889314PRXc.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
19g.40396172_40396175delCA995889352PRXc.2178_2181del (p.Ile727AsnfsTer?)
c.1761_1764del (p.Ile588AsnfsTer?)
c.2463_2466del (p.Ile822AsnfsTer?)
c.2053_2056del
c.2039_2042del
c.2140_2143del
c.2065_2068del
c.*2383_*2386del (n.*2383_*2386del)
c.2076_2079del (p.Ile693AsnfsTer?)
gnomAD v3 gnomAD v4
19g.40396175T>ACA405896833PRXc.2177A>T (p.Glu726Val)
c.1760A>T (p.Glu587Val)
c.2462A>T (p.Glu821Val)
c.2052A>T
c.2038A>T
c.2139A>T
c.2064A>T
c.*2382A>T (n.*2382A>T)
c.2075A>T (p.Glu692Val)
19g.40396175T>CCA405896834PRXc.2177A>G (p.Glu726Gly)
c.1760A>G (p.Glu587Gly)
c.2462A>G (p.Glu821Gly)
c.2052A>G
c.2038A>G
c.2139A>G
c.2064A>G
c.*2382A>G (n.*2382A>G)
c.2075A>G (p.Glu692Gly)
dbSNP gnomAD v3 gnomAD v4
19g.40396175T>GCA405896835PRXc.2177A>C (p.Glu726Ala)
c.1760A>C (p.Glu587Ala)
c.2462A>C (p.Glu821Ala)
c.2052A>C
c.2038A>C
c.2139A>C
c.2064A>C
c.*2382A>C (n.*2382A>C)
c.2075A>C (p.Glu692Ala)
19g.40396175T=CA2335961505PRXc.2177A= (p.Glu726=)
c.1760A= (p.Glu587=)
c.2462A= (p.Glu821=)
c.2052A=
c.2038A=
c.2139A=
c.2064A=
c.*2382A= (n.*2382A=)
c.2075A= (p.Glu692=)
19g.40396176C>ACA405896836PRXc.2176G>T (p.Glu726Ter)
c.1759G>T (p.Glu587Ter)
c.2461G>T (p.Glu821Ter)
c.2051G>T
c.2037G>T
c.2138G>T
c.2063G>T
c.*2381G>T (n.*2381G>T)
c.2074G>T (p.Glu692Ter)
19g.40396176C>GCA405896837PRXc.2176G>C (p.Glu726Gln)
c.1759G>C (p.Glu587Gln)
c.2461G>C (p.Glu821Gln)
c.2051G>C
c.2037G>C
c.2138G>C
c.2063G>C
c.*2381G>C (n.*2381G>C)
c.2074G>C (p.Glu692Gln)
19g.40396176C>TCA405896838PRXc.2176G>A (p.Glu726Lys)
c.1759G>A (p.Glu587Lys)
c.2461G>A (p.Glu821Lys)
c.2051G>A
c.2037G>A
c.2138G>A
c.2063G>A
c.*2381G>A (n.*2381G>A)
c.2074G>A (p.Glu692Lys)
ClinVar
19g.40396177T>ACA507679388PRXc.2175A>T (p.Pro725=)
c.1758A>T (p.Pro586=)
c.2460A>T (p.Pro820=)
c.2050A>T
c.2036A>T
c.2137A>T
c.2062A>T
c.*2380A>T (n.*2380A>T)
c.2073A>T (p.Pro691=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40396177T>CCA507679390PRXc.2175A>G (p.Pro725=)
c.1758A>G (p.Pro586=)
c.2460A>G (p.Pro820=)
c.2050A>G
c.2036A>G
c.2137A>G
c.2062A>G
c.*2380A>G (n.*2380A>G)
c.2073A>G (p.Pro691=)
dbSNP gnomAD v4
19g.40396177T>GCA507679391PRXc.2175A>C (p.Pro725=)
c.1758A>C (p.Pro586=)
c.2460A>C (p.Pro820=)
c.2050A>C
c.2036A>C
c.2137A>C
c.2062A>C
c.*2380A>C (n.*2380A>C)
c.2073A>C (p.Pro691=)
19g.40396177T=CA2335961506PRXc.2175A= (p.Pro725=)
c.1758A= (p.Pro586=)
c.2460A= (p.Pro820=)
c.2050A=
c.2036A=
c.2137A=
c.2062A=
c.*2380A= (n.*2380A=)
c.2073A= (p.Pro691=)
19g.40396178G>ACA405896839PRXc.2174C>T (p.Pro725Leu)
c.1757C>T (p.Pro586Leu)
c.2459C>T (p.Pro820Leu)
c.2049C>T
c.2035C>T
c.2136C>T
c.2061C>T
c.*2379C>T (n.*2379C>T)
c.2072C>T (p.Pro691Leu)
gnomAD v4 COSMIC
19g.40396178G>CCA405896840PRXc.2174C>G (p.Pro725Arg)
c.1757C>G (p.Pro586Arg)
c.2459C>G (p.Pro820Arg)
c.2049C>G
c.2035C>G
c.2136C>G
c.2061C>G
c.*2379C>G (n.*2379C>G)
c.2072C>G (p.Pro691Arg)
19g.40396178G>TCA405896841PRXc.2174C>A (p.Pro725Gln)
c.1757C>A (p.Pro586Gln)
c.2459C>A (p.Pro820Gln)
c.2049C>A
c.2035C>A
c.2136C>A
c.2061C>A
c.*2379C>A (n.*2379C>A)
c.2072C>A (p.Pro691Gln)
19g.40396179_40396195delCA2736045053PRXc.2158_2174del (p.Pro720ArgfsTer9)
c.1741_1757del (p.Pro581ArgfsTer9)
c.2443_2459del (p.Pro815ArgfsTer9)
c.2033_2049del
c.2019_2035del
c.2120_2136del
c.2045_2061del
c.*2363_*2379del (n.*2363_*2379del)
c.2056_2072del (p.Pro686ArgfsTer9)
dbSNP
19g.40396179G>ACA405896842PRXc.2173C>T (p.Pro725Ser)
c.1756C>T (p.Pro586Ser)
c.2458C>T (p.Pro820Ser)
c.2048C>T
c.2034C>T
c.2135C>T
c.2060C>T
c.*2378C>T (n.*2378C>T)
c.2071C>T (p.Pro691Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.40396179G>CCA405896843PRXc.2173C>G (p.Pro725Ala)
c.1756C>G (p.Pro586Ala)
c.2458C>G (p.Pro820Ala)
c.2048C>G
c.2034C>G
c.2135C>G
c.2060C>G
c.*2378C>G (n.*2378C>G)
c.2071C>G (p.Pro691Ala)
gnomAD v4
19g.40396179G=CA2335961507PRXc.2173C= (p.Pro725=)
c.1756C= (p.Pro586=)
c.2458C= (p.Pro820=)
c.2048C=
c.2034C=
c.2135C=
c.2060C=
c.*2378C= (n.*2378C=)
c.2071C= (p.Pro691=)
19g.40396179G>TCA405896844PRXc.2173C>A (p.Pro725Thr)
c.1756C>A (p.Pro586Thr)
c.2458C>A (p.Pro820Thr)
c.2048C>A
c.2034C>A
c.2135C>A
c.2060C>A
c.*2378C>A (n.*2378C>A)
c.2071C>A (p.Pro691Thr)
19g.40396180G>ACA507679393PRXc.2172C>T (p.Leu724=)
c.1755C>T (p.Leu585=)
c.2457C>T (p.Leu819=)
c.2047C>T
c.2033C>T
c.2134C>T
c.2059C>T
c.*2377C>T (n.*2377C>T)
c.2070C>T (p.Leu690=)
gnomAD v4
19g.40396180G>CCA507679394PRXc.2172C>G (p.Leu724=)
c.1755C>G (p.Leu585=)
c.2457C>G (p.Leu819=)
c.2047C>G
c.2033C>G
c.2134C>G
c.2059C>G
c.*2377C>G (n.*2377C>G)
c.2070C>G (p.Leu690=)
19g.40396180G>TCA507679395PRXc.2172C>A (p.Leu724=)
c.1755C>A (p.Leu585=)
c.2457C>A (p.Leu819=)
c.2047C>A
c.2033C>A
c.2134C>A
c.2059C>A
c.*2377C>A (n.*2377C>A)
c.2070C>A (p.Leu690=)
19g.40396181A>CCA405896847PRXc.2171T>G (p.Leu724Arg)
c.1754T>G (p.Leu585Arg)
c.2456T>G (p.Leu819Arg)
c.2046T>G
c.2032T>G
c.2133T>G
c.2058T>G
c.*2376T>G (n.*2376T>G)
c.2069T>G (p.Leu690Arg)
19g.40396181A>GCA405896846PRXc.2171T>C (p.Leu724Pro)
c.1754T>C (p.Leu585Pro)
c.2456T>C (p.Leu819Pro)
c.2046T>C
c.2032T>C
c.2133T>C
c.2058T>C
c.*2376T>C (n.*2376T>C)
c.2069T>C (p.Leu690Pro)
19g.40396181A>TCA405896845PRXc.2171T>A (p.Leu724His)
c.1754T>A (p.Leu585His)
c.2456T>A (p.Leu819His)
c.2046T>A
c.2032T>A
c.2133T>A
c.2058T>A
c.*2376T>A (n.*2376T>A)
c.2069T>A (p.Leu690His)
19g.40396182delCA995889364PRXc.2170del (p.Leu724SerfsTer4)
c.1753del (p.Leu585SerfsTer4)
c.2455del (p.Leu819SerfsTer4)
c.2045del
c.2031del
c.2132del
c.2057del
c.*2375del (n.*2375del)
c.2068del (p.Leu690SerfsTer4)
gnomAD v3 gnomAD v4
19g.40396182G>ACA405896848PRXc.2170C>T (p.Leu724Phe)
c.1753C>T (p.Leu585Phe)
c.2455C>T (p.Leu819Phe)
c.2045C>T
c.2031C>T
c.2132C>T
c.2057C>T
c.*2375C>T (n.*2375C>T)
c.2068C>T (p.Leu690Phe)
COSMIC
19g.40396182G>CCA405896849PRXc.2170C>G (p.Leu724Val)
c.1753C>G (p.Leu585Val)
c.2455C>G (p.Leu819Val)
c.2045C>G
c.2031C>G
c.2132C>G
c.2057C>G
c.*2375C>G (n.*2375C>G)
c.2068C>G (p.Leu690Val)
gnomAD v4
19g.40396182G>TCA405896850PRXc.2170C>A (p.Leu724Ile)
c.1753C>A (p.Leu585Ile)
c.2455C>A (p.Leu819Ile)
c.2045C>A
c.2031C>A
c.2132C>A
c.2057C>A
c.*2375C>A (n.*2375C>A)
c.2068C>A (p.Leu690Ile)
19g.40396183C>ACA405896851PRXc.2169G>T (p.Lys723Asn)
c.1752G>T (p.Lys584Asn)
c.2454G>T (p.Lys818Asn)
c.2044G>T
c.2030G>T
c.2131G>T
c.2056G>T
c.*2374G>T (n.*2374G>T)
c.2067G>T (p.Lys689Asn)
19g.40396183C=CA2335961508PRXc.2169G= (p.Lys723=)
c.1752G= (p.Lys584=)
c.2454G= (p.Lys818=)
c.2044G=
c.2030G=
c.2131G=
c.2056G=
c.*2374G= (n.*2374G=)
c.2067G= (p.Lys689=)
19g.40396183C>GCA405896852PRXc.2169G>C (p.Lys723Asn)
c.1752G>C (p.Lys584Asn)
c.2454G>C (p.Lys818Asn)
c.2044G>C
c.2030G>C
c.2131G>C
c.2056G>C
c.*2374G>C (n.*2374G>C)
c.2067G>C (p.Lys689Asn)
19g.40396183C>TCA507679399PRXc.2169G>A (p.Lys723=)
c.1752G>A (p.Lys584=)
c.2454G>A (p.Lys818=)
c.2044G>A
c.2030G>A
c.2131G>A
c.2056G>A
c.*2374G>A (n.*2374G>A)
c.2067G>A (p.Lys689=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40396184T>ACA405896855PRXc.2168A>T (p.Lys723Met)
c.1751A>T (p.Lys584Met)
c.2453A>T (p.Lys818Met)
c.2043A>T
c.2029A>T
c.2130A>T
c.2055A>T
c.*2373A>T (n.*2373A>T)
c.2066A>T (p.Lys689Met)
19g.40396184T>CCA405896854PRXc.2168A>G (p.Lys723Arg)
c.1751A>G (p.Lys584Arg)
c.2453A>G (p.Lys818Arg)
c.2043A>G
c.2029A>G
c.2130A>G
c.2055A>G
c.*2373A>G (n.*2373A>G)
c.2066A>G (p.Lys689Arg)
19g.40396184T>GCA405896853PRXc.2168A>C (p.Lys723Thr)
c.1751A>C (p.Lys584Thr)
c.2453A>C (p.Lys818Thr)
c.2043A>C
c.2029A>C
c.2130A>C
c.2055A>C
c.*2373A>C (n.*2373A>C)
c.2066A>C (p.Lys689Thr)
19g.40396185T>ACA405896856PRXc.2167A>T (p.Lys723Ter)
c.1750A>T (p.Lys584Ter)
c.2452A>T (p.Lys818Ter)
c.2042A>T
c.2028A>T
c.2129A>T
c.2054A>T
c.*2372A>T (n.*2372A>T)
c.2065A>T (p.Lys689Ter)
19g.40396185T>CCA405896857PRXc.2167A>G (p.Lys723Glu)
c.1750A>G (p.Lys584Glu)
c.2452A>G (p.Lys818Glu)
c.2042A>G
c.2028A>G
c.2129A>G
c.2054A>G
c.*2372A>G (n.*2372A>G)
c.2065A>G (p.Lys689Glu)
19g.40396185T>GCA405896858PRXc.2167A>C (p.Lys723Gln)
c.1750A>C (p.Lys584Gln)
c.2452A>C (p.Lys818Gln)
c.2042A>C
c.2028A>C
c.2129A>C
c.2054A>C
c.*2372A>C (n.*2372A>C)
c.2065A>C (p.Lys689Gln)
19g.40396186C>ACA405896859PRXc.2166G>T (p.Met722Ile)
c.1749G>T (p.Met583Ile)
c.2451G>T (p.Met817Ile)
c.2041G>T
c.2027G>T
c.2128G>T
c.2053G>T
c.*2371G>T (n.*2371G>T)
c.2064G>T (p.Met688Ile)
19g.40396186C>GCA405896860PRXc.2166G>C (p.Met722Ile)
c.1749G>C (p.Met583Ile)
c.2451G>C (p.Met817Ile)
c.2041G>C
c.2027G>C
c.2128G>C
c.2053G>C
c.*2371G>C (n.*2371G>C)
c.2064G>C (p.Met688Ile)
19g.40396186C>TCA405896861PRXc.2166G>A (p.Met722Ile)
c.1749G>A (p.Met583Ile)
c.2451G>A (p.Met817Ile)
c.2041G>A
c.2027G>A
c.2128G>A
c.2053G>A
c.*2371G>A (n.*2371G>A)
c.2064G>A (p.Met688Ile)
gnomAD v4
19g.40396187A>CCA405896862PRXc.2165T>G (p.Met722Arg)
c.1748T>G (p.Met583Arg)
c.2450T>G (p.Met817Arg)
c.2040T>G
c.2026T>G
c.2127T>G
c.2052T>G
c.*2370T>G (n.*2370T>G)
c.2063T>G (p.Met688Arg)
19g.40396187A>GCA405896864PRXc.2165T>C (p.Met722Thr)
c.1748T>C (p.Met583Thr)
c.2450T>C (p.Met817Thr)
c.2040T>C
c.2026T>C
c.2127T>C
c.2052T>C
c.*2370T>C (n.*2370T>C)
c.2063T>C (p.Met688Thr)
gnomAD v4
19g.40396187A>TCA405896863PRXc.2165T>A (p.Met722Lys)
c.1748T>A (p.Met583Lys)
c.2450T>A (p.Met817Lys)
c.2040T>A
c.2026T>A
c.2127T>A
c.2052T>A
c.*2370T>A (n.*2370T>A)
c.2063T>A (p.Met688Lys)
19g.40396188T>ACA405896865PRXc.2164A>T (p.Met722Leu)
c.1747A>T (p.Met583Leu)
c.2449A>T (p.Met817Leu)
c.2039A>T
c.2025A>T
c.2126A>T
c.2051A>T
c.*2369A>T (n.*2369A>T)
c.2062A>T (p.Met688Leu)
dbSNP
19g.40396188T>CCA9444114PRXc.2164A>G (p.Met722Val)
c.1747A>G (p.Met583Val)
c.2449A>G (p.Met817Val)
c.2039A>G
c.2025A>G
c.2126A>G
c.2051A>G
c.*2369A>G (n.*2369A>G)
c.2062A>G (p.Met688Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396188T>GCA405896866PRXc.2164A>C (p.Met722Leu)
c.1747A>C (p.Met583Leu)
c.2449A>C (p.Met817Leu)
c.2039A>C
c.2025A>C
c.2126A>C
c.2051A>C
c.*2369A>C (n.*2369A>C)
c.2062A>C (p.Met688Leu)
19g.40396188T=CA2335961509PRXc.2164A= (p.Met722=)
c.1747A= (p.Met583=)
c.2449A= (p.Met817=)
c.2039A=
c.2025A=
c.2126A=
c.2051A=
c.*2369A= (n.*2369A=)
c.2062A= (p.Met688=)
19g.40396189G>ACA507679405PRXc.2163C>T (p.Asp721=)
c.1746C>T (p.Asp582=)
c.2448C>T (p.Asp816=)
c.2038C>T
c.2024C>T
c.2125C>T
c.2050C>T
c.*2368C>T (n.*2368C>T)
c.2061C>T (p.Asp687=)
dbSNP gnomAD v2 gnomAD v4
19g.40396189G>CCA405896867PRXc.2163C>G (p.Asp721Glu)
c.1746C>G (p.Asp582Glu)
c.2448C>G (p.Asp816Glu)
c.2038C>G
c.2024C>G
c.2125C>G
c.2050C>G
c.*2368C>G (n.*2368C>G)
c.2061C>G (p.Asp687Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40396189G=CA2335961510PRXc.2163C= (p.Asp721=)
c.1746C= (p.Asp582=)
c.2448C= (p.Asp816=)
c.2038C=
c.2024C=
c.2125C=
c.2050C=
c.*2368C= (n.*2368C=)
c.2061C= (p.Asp687=)
19g.40396189G>TCA405896868PRXc.2163C>A (p.Asp721Glu)
c.1746C>A (p.Asp582Glu)
c.2448C>A (p.Asp816Glu)
c.2038C>A
c.2024C>A
c.2125C>A
c.2050C>A
c.*2368C>A (n.*2368C>A)
c.2061C>A (p.Asp687Glu)
19g.40396190T>ACA405896869PRXc.2162A>T (p.Asp721Val)
c.1745A>T (p.Asp582Val)
c.2447A>T (p.Asp816Val)
c.2037A>T
c.2023A>T
c.2124A>T
c.2049A>T
c.*2367A>T (n.*2367A>T)
c.2060A>T (p.Asp687Val)
19g.40396190T>CCA405896870PRXc.2162A>G (p.Asp721Gly)
c.1745A>G (p.Asp582Gly)
c.2447A>G (p.Asp816Gly)
c.2037A>G
c.2023A>G
c.2124A>G
c.2049A>G
c.*2367A>G (n.*2367A>G)
c.2060A>G (p.Asp687Gly)
gnomAD v3 gnomAD v4
19g.40396190T>GCA405896871PRXc.2162A>C (p.Asp721Ala)
c.1745A>C (p.Asp582Ala)
c.2447A>C (p.Asp816Ala)
c.2037A>C
c.2023A>C
c.2124A>C
c.2049A>C
c.*2367A>C (n.*2367A>C)
c.2060A>C (p.Asp687Ala)
19g.40396191C>ACA405896872PRXc.2161G>T (p.Asp721Tyr)
c.1744G>T (p.Asp582Tyr)
c.2446G>T (p.Asp816Tyr)
c.2036G>T
c.2022G>T
c.2123G>T
c.2048G>T
c.*2366G>T (n.*2366G>T)
c.2059G>T (p.Asp687Tyr)
19g.40396191C>GCA405896873PRXc.2161G>C (p.Asp721His)
c.1744G>C (p.Asp582His)
c.2446G>C (p.Asp816His)
c.2036G>C
c.2022G>C
c.2123G>C
c.2048G>C
c.*2366G>C (n.*2366G>C)
c.2059G>C (p.Asp687His)
19g.40396191C>TCA405896874PRXc.2161G>A (p.Asp721Asn)
c.1744G>A (p.Asp582Asn)
c.2446G>A (p.Asp816Asn)
c.2036G>A
c.2022G>A
c.2123G>A
c.2048G>A
c.*2366G>A (n.*2366G>A)
c.2059G>A (p.Asp687Asn)
19g.40396192A>CCA507679407PRXc.2160T>G (p.Pro720=)
c.1743T>G (p.Pro581=)
c.2445T>G (p.Pro815=)
c.2035T>G
c.2021T>G
c.2122T>G
c.2047T>G
c.*2365T>G (n.*2365T>G)
c.2058T>G (p.Pro686=)
19g.40396192A>GCA507679408PRXc.2160T>C (p.Pro720=)
c.1743T>C (p.Pro581=)
c.2445T>C (p.Pro815=)
c.2035T>C
c.2021T>C
c.2122T>C
c.2047T>C
c.*2365T>C (n.*2365T>C)
c.2058T>C (p.Pro686=)
gnomAD v4
19g.40396192A>TCA507679409PRXc.2160T>A (p.Pro720=)
c.1743T>A (p.Pro581=)
c.2445T>A (p.Pro815=)
c.2035T>A
c.2021T>A
c.2122T>A
c.2047T>A
c.*2365T>A (n.*2365T>A)
c.2058T>A (p.Pro686=)
19g.40396193G>ACA405896875PRXc.2159C>T (p.Pro720Leu)
c.1742C>T (p.Pro581Leu)
c.2444C>T (p.Pro815Leu)
c.2034C>T
c.2020C>T
c.2121C>T
c.2046C>T
c.*2364C>T (n.*2364C>T)
c.2057C>T (p.Pro686Leu)
dbSNP gnomAD v3 gnomAD v4
19g.40396193G>CCA405896877PRXc.2159C>G (p.Pro720Arg)
c.1742C>G (p.Pro581Arg)
c.2444C>G (p.Pro815Arg)
c.2034C>G
c.2020C>G
c.2121C>G
c.2046C>G
c.*2364C>G (n.*2364C>G)
c.2057C>G (p.Pro686Arg)
dbSNP
19g.40396193G=CA2335961511PRXc.2159C= (p.Pro720=)
c.1742C= (p.Pro581=)
c.2444C= (p.Pro815=)
c.2034C=
c.2020C=
c.2121C=
c.2046C=
c.*2364C= (n.*2364C=)
c.2057C= (p.Pro686=)
19g.40396193G>TCA405896876PRXc.2159C>A (p.Pro720His)
c.1742C>A (p.Pro581His)
c.2444C>A (p.Pro815His)
c.2034C>A
c.2020C>A
c.2121C>A
c.2046C>A
c.*2364C>A (n.*2364C>A)
c.2057C>A (p.Pro686His)
19g.40396194G>ACA405896878PRXc.2158C>T (p.Pro720Ser)
c.1741C>T (p.Pro581Ser)
c.2443C>T (p.Pro815Ser)
c.2033C>T
c.2019C>T
c.2120C>T
c.2045C>T
c.*2363C>T (n.*2363C>T)
c.2056C>T (p.Pro686Ser)
ClinVar dbSNP
19g.40396194G>CCA405896879PRXc.2158C>G (p.Pro720Ala)
c.1741C>G (p.Pro581Ala)
c.2443C>G (p.Pro815Ala)
c.2033C>G
c.2019C>G
c.2120C>G
c.2045C>G
c.*2363C>G (n.*2363C>G)
c.2056C>G (p.Pro686Ala)
19g.40396194G=CA2335961512PRXc.2158C= (p.Pro720=)
c.1741C= (p.Pro581=)
c.2443C= (p.Pro815=)
c.2033C=
c.2019C=
c.2120C=
c.2045C=
c.*2363C= (n.*2363C=)
c.2056C= (p.Pro686=)
19g.40396194G>TCA405896880PRXc.2158C>A (p.Pro720Thr)
c.1741C>A (p.Pro581Thr)
c.2443C>A (p.Pro815Thr)
c.2033C>A
c.2019C>A
c.2120C>A
c.2045C>A
c.*2363C>A (n.*2363C>A)
c.2056C>A (p.Pro686Thr)
19g.40396195G>ACA308419632PRXc.2157C>T (p.Val719=)
c.1740C>T (p.Val580=)
c.2442C>T (p.Val814=)
c.2032C>T
c.2018C>T
c.2119C>T
c.2044C>T
c.*2362C>T (n.*2362C>T)
c.2055C>T (p.Val685=)
dbSNP
19g.40396195G>CCA507679415PRXc.2157C>G (p.Val719=)
c.1740C>G (p.Val580=)
c.2442C>G (p.Val814=)
c.2032C>G
c.2018C>G
c.2119C>G
c.2044C>G
c.*2362C>G (n.*2362C>G)
c.2055C>G (p.Val685=)
19g.40396195G=CA2335961513PRXc.2157C= (p.Val719=)
c.1740C= (p.Val580=)
c.2442C= (p.Val814=)
c.2032C=
c.2018C=
c.2119C=
c.2044C=
c.*2362C= (n.*2362C=)
c.2055C= (p.Val685=)
19g.40396195G>TCA9444115PRXc.2157C>A (p.Val719=)
c.1740C>A (p.Val580=)
c.2442C>A (p.Val814=)
c.2032C>A
c.2018C>A
c.2119C>A
c.2044C>A
c.*2362C>A (n.*2362C>A)
c.2055C>A (p.Val685=)
dbSNP ExAC gnomAD v2
19g.40396196A>CCA405896881PRXc.2156T>G (p.Val719Gly)
c.1739T>G (p.Val580Gly)
c.2441T>G (p.Val814Gly)
c.2031T>G
c.2017T>G
c.2118T>G
c.2043T>G
c.*2361T>G (n.*2361T>G)
c.2054T>G (p.Val685Gly)
19g.40396196A>GCA405896882PRXc.2156T>C (p.Val719Ala)
c.1739T>C (p.Val580Ala)
c.2441T>C (p.Val814Ala)
c.2031T>C
c.2017T>C
c.2118T>C
c.2043T>C
c.*2361T>C (n.*2361T>C)
c.2054T>C (p.Val685Ala)
19g.40396196A>TCA405896883PRXc.2156T>A (p.Val719Asp)
c.1739T>A (p.Val580Asp)
c.2441T>A (p.Val814Asp)
c.2031T>A
c.2017T>A
c.2118T>A
c.2043T>A
c.*2361T>A (n.*2361T>A)
c.2054T>A (p.Val685Asp)
19g.40396196_40396197insGCA995889386PRXc.2155_2156insC (p.Val719AlafsTer3)
c.1738_1739insC (p.Val580AlafsTer3)
c.2440_2441insC (p.Val814AlafsTer3)
c.2030_2031insC
c.2016_2017insC
c.2117_2118insC
c.2042_2043insC
c.*2360_*2361insC (n.*2360_*2361insC)
c.2053_2054insC (p.Val685AlafsTer3)
gnomAD v3 gnomAD v4
19g.40396197C>ACA405896884PRXc.2155G>T (p.Val719Phe)
c.1738G>T (p.Val580Phe)
c.2440G>T (p.Val814Phe)
c.2030G>T
c.2016G>T
c.2117G>T
c.2042G>T
c.*2360G>T (n.*2360G>T)
c.2053G>T (p.Val685Phe)
dbSNP gnomAD v3 gnomAD v4
19g.40396197C=CA2335961514PRXc.2155G= (p.Val719=)
c.1738G= (p.Val580=)
c.2440G= (p.Val814=)
c.2030G=
c.2016G=
c.2117G=
c.2042G=
c.*2360G= (n.*2360G=)
c.2053G= (p.Val685=)
19g.40396197C>GCA405896885PRXc.2155G>C (p.Val719Leu)
c.1738G>C (p.Val580Leu)
c.2440G>C (p.Val814Leu)
c.2030G>C
c.2016G>C
c.2117G>C
c.2042G>C
c.*2360G>C (n.*2360G>C)
c.2053G>C (p.Val685Leu)
dbSNP gnomAD v3 gnomAD v4
19g.40396197C>TCA405896886PRXc.2155G>A (p.Val719Ile)
c.1738G>A (p.Val580Ile)
c.2440G>A (p.Val814Ile)
c.2030G>A
c.2016G>A
c.2117G>A
c.2042G>A
c.*2360G>A (n.*2360G>A)
c.2053G>A (p.Val685Ile)
19g.40396198T>ACA405896887PRXc.2154A>T (p.Lys718Asn)
c.1737A>T (p.Lys579Asn)
c.2439A>T (p.Lys813Asn)
c.2029A>T
c.2015A>T
c.2116A>T
c.2041A>T
c.*2359A>T (n.*2359A>T)
c.2052A>T (p.Lys684Asn)
19g.40396198T>CCA507679418PRXc.2154A>G (p.Lys718=)
c.1737A>G (p.Lys579=)
c.2439A>G (p.Lys813=)
c.2029A>G
c.2015A>G
c.2116A>G
c.2041A>G
c.*2359A>G (n.*2359A>G)
c.2052A>G (p.Lys684=)
dbSNP gnomAD v3 gnomAD v4
19g.40396198T>GCA405896888PRXc.2154A>C (p.Lys718Asn)
c.1737A>C (p.Lys579Asn)
c.2439A>C (p.Lys813Asn)
c.2029A>C
c.2015A>C
c.2116A>C
c.2041A>C
c.*2359A>C (n.*2359A>C)
c.2052A>C (p.Lys684Asn)
19g.40396199T>ACA405896891PRXc.2153A>T (p.Lys718Ile)
c.1736A>T (p.Lys579Ile)
c.2438A>T (p.Lys813Ile)
c.2028A>T
c.2014A>T
c.2115A>T
c.2040A>T
c.*2358A>T (n.*2358A>T)
c.2051A>T (p.Lys684Ile)
19g.40396199T>CCA405896890PRXc.2153A>G (p.Lys718Arg)
c.1736A>G (p.Lys579Arg)
c.2438A>G (p.Lys813Arg)
c.2028A>G
c.2014A>G
c.2115A>G
c.2040A>G
c.*2358A>G (n.*2358A>G)
c.2051A>G (p.Lys684Arg)
19g.40396199T>GCA405896889PRXc.2153A>C (p.Lys718Thr)
c.1736A>C (p.Lys579Thr)
c.2438A>C (p.Lys813Thr)
c.2028A>C
c.2014A>C
c.2115A>C
c.2040A>C
c.*2358A>C (n.*2358A>C)
c.2051A>C (p.Lys684Thr)
19g.40396200T>ACA405896892PRXc.2152A>T (p.Lys718Ter)
c.1735A>T (p.Lys579Ter)
c.2437A>T (p.Lys813Ter)
c.2027A>T
c.2013A>T
c.2114A>T
c.2039A>T
c.*2357A>T (n.*2357A>T)
c.2050A>T (p.Lys684Ter)
19g.40396200T>CCA405896893PRXc.2152A>G (p.Lys718Glu)
c.1735A>G (p.Lys579Glu)
c.2437A>G (p.Lys813Glu)
c.2027A>G
c.2013A>G
c.2114A>G
c.2039A>G
c.*2357A>G (n.*2357A>G)
c.2050A>G (p.Lys684Glu)
ClinVar dbSNP gnomAD v4
19g.40396200T>GCA405896894PRXc.2152A>C (p.Lys718Gln)
c.1735A>C (p.Lys579Gln)
c.2437A>C (p.Lys813Gln)
c.2027A>C
c.2013A>C
c.2114A>C
c.2039A>C
c.*2357A>C (n.*2357A>C)
c.2050A>C (p.Lys684Gln)
19g.40396200T=CA2335961515PRXc.2152A= (p.Lys718=)
c.1735A= (p.Lys579=)
c.2437A= (p.Lys813=)
c.2027A=
c.2013A=
c.2114A=
c.2039A=
c.*2357A= (n.*2357A=)
c.2050A= (p.Lys684=)
19g.40396201C>ACA405896895PRXc.2151G>T (p.Met717Ile)
c.1734G>T (p.Met578Ile)
c.2436G>T (p.Met812Ile)
c.2026G>T
c.2012G>T
c.2113G>T
c.2038G>T
c.*2356G>T (n.*2356G>T)
c.2049G>T (p.Met683Ile)
19g.40396201C>GCA405896896PRXc.2151G>C (p.Met717Ile)
c.1734G>C (p.Met578Ile)
c.2436G>C (p.Met812Ile)
c.2026G>C
c.2012G>C
c.2113G>C
c.2038G>C
c.*2356G>C (n.*2356G>C)
c.2049G>C (p.Met683Ile)
19g.40396201C>TCA405896897PRXc.2151G>A (p.Met717Ile)
c.1734G>A (p.Met578Ile)
c.2436G>A (p.Met812Ile)
c.2026G>A
c.2012G>A
c.2113G>A
c.2038G>A
c.*2356G>A (n.*2356G>A)
c.2049G>A (p.Met683Ile)
19g.40396202A=CA2335961516PRXc.2150T= (p.Met717=)
c.1733T= (p.Met578=)
c.2435T= (p.Met812=)
c.2025T=
c.2011T=
c.2112T=
c.2037T=
c.*2355T= (n.*2355T=)
c.2048T= (p.Met683=)
19g.40396202A>CCA405896898PRXc.2150T>G (p.Met717Arg)
c.1733T>G (p.Met578Arg)
c.2435T>G (p.Met812Arg)
c.2025T>G
c.2011T>G
c.2112T>G
c.2037T>G
c.*2355T>G (n.*2355T>G)
c.2048T>G (p.Met683Arg)
gnomAD v4
19g.40396202A>GCA9444116PRXc.2150T>C (p.Met717Thr)
c.1733T>C (p.Met578Thr)
c.2435T>C (p.Met812Thr)
c.2025T>C
c.2011T>C
c.2112T>C
c.2037T>C
c.*2355T>C (n.*2355T>C)
c.2048T>C (p.Met683Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.40396202A>TCA405896899PRXc.2150T>A (p.Met717Lys)
c.1733T>A (p.Met578Lys)
c.2435T>A (p.Met812Lys)
c.2025T>A
c.2011T>A
c.2112T>A
c.2037T>A
c.*2355T>A (n.*2355T>A)
c.2048T>A (p.Met683Lys)
19g.40396203T>ACA405896900PRXc.2149A>T (p.Met717Leu)
c.1732A>T (p.Met578Leu)
c.2434A>T (p.Met812Leu)
c.2024A>T
c.2010A>T
c.2111A>T
c.2036A>T
c.*2354A>T (n.*2354A>T)
c.2047A>T (p.Met683Leu)
19g.40396203T>CCA405896901PRXc.2149A>G (p.Met717Val)
c.1732A>G (p.Met578Val)
c.2434A>G (p.Met812Val)
c.2024A>G
c.2010A>G
c.2111A>G
c.2036A>G
c.*2354A>G (n.*2354A>G)
c.2047A>G (p.Met683Val)
gnomAD v4
19g.40396203T>GCA405896902PRXc.2149A>C (p.Met717Leu)
c.1732A>C (p.Met578Leu)
c.2434A>C (p.Met812Leu)
c.2024A>C
c.2010A>C
c.2111A>C
c.2036A>C
c.*2354A>C (n.*2354A>C)
c.2047A>C (p.Met683Leu)
19g.40396204T>ACA405896903PRXc.2148A>T (p.Glu716Asp)
c.1731A>T (p.Glu577Asp)
c.2433A>T (p.Glu811Asp)
c.2023A>T
c.2009A>T
c.2110A>T
c.2035A>T
c.*2353A>T (n.*2353A>T)
c.2046A>T (p.Glu682Asp)
19g.40396204T>CCA507679424PRXc.2148A>G (p.Glu716=)
c.1731A>G (p.Glu577=)
c.2433A>G (p.Glu811=)
c.2023A>G
c.2009A>G
c.2110A>G
c.2035A>G
c.*2353A>G (n.*2353A>G)
c.2046A>G (p.Glu682=)
gnomAD v3 gnomAD v4
19g.40396204T>GCA405896904PRXc.2148A>C (p.Glu716Asp)
c.1731A>C (p.Glu577Asp)
c.2433A>C (p.Glu811Asp)
c.2023A>C
c.2009A>C
c.2110A>C
c.2035A>C
c.*2353A>C (n.*2353A>C)
c.2046A>C (p.Glu682Asp)
gnomAD v4
19g.40396205T>ACA405896907PRXc.2147A>T (p.Glu716Val)
c.1730A>T (p.Glu577Val)
c.2432A>T (p.Glu811Val)
c.2022A>T
c.2008A>T
c.2109A>T
c.2034A>T
c.*2352A>T (n.*2352A>T)
c.2045A>T (p.Glu682Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40396205T>CCA405896906PRXc.2147A>G (p.Glu716Gly)
c.1730A>G (p.Glu577Gly)
c.2432A>G (p.Glu811Gly)
c.2022A>G
c.2008A>G
c.2109A>G
c.2034A>G
c.*2352A>G (n.*2352A>G)
c.2045A>G (p.Glu682Gly)
gnomAD v4
19g.40396205T>GCA405896905PRXc.2147A>C (p.Glu716Ala)
c.1730A>C (p.Glu577Ala)
c.2432A>C (p.Glu811Ala)
c.2022A>C
c.2008A>C
c.2109A>C
c.2034A>C
c.*2352A>C (n.*2352A>C)
c.2045A>C (p.Glu682Ala)
19g.40396205T=CA2335961517PRXc.2147A= (p.Glu716=)
c.1730A= (p.Glu577=)
c.2432A= (p.Glu811=)
c.2022A=
c.2008A=
c.2109A=
c.2034A=
c.*2352A= (n.*2352A=)
c.2045A= (p.Glu682=)
19g.40396206C>ACA405896908PRXc.2146G>T (p.Glu716Ter)
c.1729G>T (p.Glu577Ter)
c.2431G>T (p.Glu811Ter)
c.2021G>T
c.2007G>T
c.2108G>T
c.2033G>T
c.*2351G>T (n.*2351G>T)
c.2044G>T (p.Glu682Ter)
19g.40396206C=CA2335961518PRXc.2146G= (p.Glu716=)
c.1729G= (p.Glu577=)
c.2431G= (p.Glu811=)
c.2021G=
c.2007G=
c.2108G=
c.2033G=
c.*2351G= (n.*2351G=)
c.2044G= (p.Glu682=)
19g.40396206C>GCA405896909PRXc.2146G>C (p.Glu716Gln)
c.1729G>C (p.Glu577Gln)
c.2431G>C (p.Glu811Gln)
c.2021G>C
c.2007G>C
c.2108G>C
c.2033G>C
c.*2351G>C (n.*2351G>C)
c.2044G>C (p.Glu682Gln)
19g.40396206C>TCA405896910PRXc.2146G>A (p.Glu716Lys)
c.1729G>A (p.Glu577Lys)
c.2431G>A (p.Glu811Lys)
c.2021G>A
c.2007G>A
c.2108G>A
c.2033G>A
c.*2351G>A (n.*2351G>A)
c.2044G>A (p.Glu682Lys)
dbSNP gnomAD v2
19g.40396208_40396209delCA2585127083PRXc.2145_2146del (p.Cys715Ter)
c.1728_1729del (p.Cys576Ter)
c.2430_2431del (p.Cys810Ter)
c.2020_2021del
c.2006_2007del
c.2107_2108del
c.2032_2033del
c.*2350_*2351del (n.*2350_*2351del)
c.2043_2044del (p.Cys681Ter)
gnomAD v4
19g.40396207A=CA2335961519PRXc.2145T= (p.Cys715=)
c.1728T= (p.Cys576=)
c.2430T= (p.Cys810=)
c.2020T=
c.2006T=
c.2107T=
c.2032T=
c.*2350T= (n.*2350T=)
c.2043T= (p.Cys681=)
19g.40396207A>CCA405896911PRXc.2145T>G (p.Cys715Trp)
c.1728T>G (p.Cys576Trp)
c.2430T>G (p.Cys810Trp)
c.2020T>G
c.2006T>G
c.2107T>G
c.2032T>G
c.*2350T>G (n.*2350T>G)
c.2043T>G (p.Cys681Trp)
19g.40396207A>GCA507679430PRXc.2145T>C (p.Cys715=)
c.1728T>C (p.Cys576=)
c.2430T>C (p.Cys810=)
c.2020T>C
c.2006T>C
c.2107T>C
c.2032T>C
c.*2350T>C (n.*2350T>C)
c.2043T>C (p.Cys681=)
19g.40396207A>TCA343107PRXc.2145T>A (p.Cys715Ter)
c.1728T>A (p.Cys576Ter)
c.2430T>A (p.Cys810Ter)
c.2020T>A
c.2006T>A
c.2107T>A
c.2032T>A
c.*2350T>A (n.*2350T>A)
c.2043T>A (p.Cys681Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396208C>ACA405896914PRXc.2144G>T (p.Cys715Phe)
c.1727G>T (p.Cys576Phe)
c.2429G>T (p.Cys810Phe)
c.2019G>T
c.2005G>T
c.2106G>T
c.2031G>T
c.*2349G>T (n.*2349G>T)
c.2042G>T (p.Cys681Phe)
19g.40396208C=CA2335961520PRXc.2144G= (p.Cys715=)
c.1727G= (p.Cys576=)
c.2429G= (p.Cys810=)
c.2019G=
c.2005G=
c.2106G=
c.2031G=
c.*2349G= (n.*2349G=)
c.2042G= (p.Cys681=)
19g.40396208C>GCA405896913PRXc.2144G>C (p.Cys715Ser)
c.1727G>C (p.Cys576Ser)
c.2429G>C (p.Cys810Ser)
c.2019G>C
c.2005G>C
c.2106G>C
c.2031G>C
c.*2349G>C (n.*2349G>C)
c.2042G>C (p.Cys681Ser)
dbSNP gnomAD v3 gnomAD v4
19g.40396208C>TCA405896912PRXc.2144G>A (p.Cys715Tyr)
c.1727G>A (p.Cys576Tyr)
c.2429G>A (p.Cys810Tyr)
c.2019G>A
c.2005G>A
c.2106G>A
c.2031G>A
c.*2349G>A (n.*2349G>A)
c.2042G>A (p.Cys681Tyr)
dbSNP gnomAD v4
19g.40396209A>CCA405896915PRXc.2143T>G (p.Cys715Gly)
c.1726T>G (p.Cys576Gly)
c.2428T>G (p.Cys810Gly)
c.2018T>G
c.2004T>G
c.2105T>G
c.2030T>G
c.*2348T>G (n.*2348T>G)
c.2041T>G (p.Cys681Gly)
19g.40396209A>GCA405896916PRXc.2143T>C (p.Cys715Arg)
c.1726T>C (p.Cys576Arg)
c.2428T>C (p.Cys810Arg)
c.2018T>C
c.2004T>C
c.2105T>C
c.2030T>C
c.*2348T>C (n.*2348T>C)
c.2041T>C (p.Cys681Arg)
gnomAD v3 gnomAD v4
19g.40396209A>TCA405896917PRXc.2143T>A (p.Cys715Ser)
c.1726T>A (p.Cys576Ser)
c.2428T>A (p.Cys810Ser)
c.2018T>A
c.2004T>A
c.2105T>A
c.2030T>A
c.*2348T>A (n.*2348T>A)
c.2041T>A (p.Cys681Ser)
19g.40396210G>ACA507679433PRXc.2142C>T (p.Val714=)
c.1725C>T (p.Val575=)
c.2427C>T (p.Val809=)
c.2017C>T
c.2003C>T
c.2104C>T
c.2029C>T
c.*2347C>T (n.*2347C>T)
c.2040C>T (p.Val680=)
19g.40396210G>CCA507679432PRXc.2142C>G (p.Val714=)
c.1725C>G (p.Val575=)
c.2427C>G (p.Val809=)
c.2017C>G
c.2003C>G
c.2104C>G
c.2029C>G
c.*2347C>G (n.*2347C>G)
c.2040C>G (p.Val680=)
COSMIC
19g.40396210G>TCA507679431PRXc.2142C>A (p.Val714=)
c.1725C>A (p.Val575=)
c.2427C>A (p.Val809=)
c.2017C>A
c.2003C>A
c.2104C>A
c.2029C>A
c.*2347C>A (n.*2347C>A)
c.2040C>A (p.Val680=)
19g.40396211A=CA2335961521PRXc.2141T= (p.Val714=)
c.1724T= (p.Val575=)
c.2426T= (p.Val809=)
c.2016T=
c.2002T=
c.2103T=
c.2028T=
c.*2346T= (n.*2346T=)
c.2039T= (p.Val680=)
19g.40396211A>CCA405896918PRXc.2141T>G (p.Val714Gly)
c.1724T>G (p.Val575Gly)
c.2426T>G (p.Val809Gly)
c.2016T>G
c.2002T>G
c.2103T>G
c.2028T>G
c.*2346T>G (n.*2346T>G)
c.2039T>G (p.Val680Gly)
19g.40396211A>GCA405896919PRXc.2141T>C (p.Val714Ala)
c.1724T>C (p.Val575Ala)
c.2426T>C (p.Val809Ala)
c.2016T>C
c.2002T>C
c.2103T>C
c.2028T>C
c.*2346T>C (n.*2346T>C)
c.2039T>C (p.Val680Ala)
dbSNP gnomAD v4
19g.40396211A>TCA405896920PRXc.2141T>A (p.Val714Asp)
c.1724T>A (p.Val575Asp)
c.2426T>A (p.Val809Asp)
c.2016T>A
c.2002T>A
c.2103T>A
c.2028T>A
c.*2346T>A (n.*2346T>A)
c.2039T>A (p.Val680Asp)
19g.40396212delCA2585127084PRXc.2140del (p.Val714SerfsTer4)
c.1723del (p.Val575SerfsTer4)
c.2425del (p.Val809SerfsTer4)
c.2015del
c.2001del
c.2102del
c.2027del
c.*2345del (n.*2345del)
c.2038del (p.Val680SerfsTer4)
gnomAD v4
19g.40396212C>ACA405896923PRXc.2140G>T (p.Val714Phe)
c.1723G>T (p.Val575Phe)
c.2425G>T (p.Val809Phe)
c.2015G>T
c.2001G>T
c.2102G>T
c.2027G>T
c.*2345G>T (n.*2345G>T)
c.2038G>T (p.Val680Phe)
19g.40396212C>GCA405896921PRXc.2140G>C (p.Val714Leu)
c.1723G>C (p.Val575Leu)
c.2425G>C (p.Val809Leu)
c.2015G>C
c.2001G>C
c.2102G>C
c.2027G>C
c.*2345G>C (n.*2345G>C)
c.2038G>C (p.Val680Leu)
19g.40396212C>TCA405896922PRXc.2140G>A (p.Val714Ile)
c.1723G>A (p.Val575Ile)
c.2425G>A (p.Val809Ile)
c.2015G>A
c.2001G>A
c.2102G>A
c.2027G>A
c.*2345G>A (n.*2345G>A)
c.2038G>A (p.Val680Ile)
19g.40396213T>ACA405896924PRXc.2139A>T (p.Lys713Asn)
c.1722A>T (p.Lys574Asn)
c.2424A>T (p.Lys808Asn)
c.2014A>T
c.2000A>T
c.2101A>T
c.2026A>T
c.*2344A>T (n.*2344A>T)
c.2037A>T (p.Lys679Asn)
19g.40396213T>CCA507679438PRXc.2139A>G (p.Lys713=)
c.1722A>G (p.Lys574=)
c.2424A>G (p.Lys808=)
c.2014A>G
c.2000A>G
c.2101A>G
c.2026A>G
c.*2344A>G (n.*2344A>G)
c.2037A>G (p.Lys679=)
19g.40396213T>GCA405896925PRXc.2139A>C (p.Lys713Asn)
c.1722A>C (p.Lys574Asn)
c.2424A>C (p.Lys808Asn)
c.2014A>C
c.2000A>C
c.2101A>C
c.2026A>C
c.*2344A>C (n.*2344A>C)
c.2037A>C (p.Lys679Asn)
19g.40396214_40396215delCA2576785599PRXc.2138_2139del (p.Lys713SerfsTer3)
c.1721_1722del (p.Lys574SerfsTer3)
c.2423_2424del (p.Lys808SerfsTer3)
c.2013_2014del
c.1999_2000del
c.2100_2101del
c.2025_2026del
c.*2343_*2344del (n.*2343_*2344del)
c.2036_2037del (p.Lys679SerfsTer3)
19g.40396214T>ACA405896926PRXc.2138A>T (p.Lys713Ile)
c.1721A>T (p.Lys574Ile)
c.2423A>T (p.Lys808Ile)
c.2013A>T
c.1999A>T
c.2100A>T
c.2025A>T
c.*2343A>T (n.*2343A>T)
c.2036A>T (p.Lys679Ile)
19g.40396214T>CCA405896927PRXc.2138A>G (p.Lys713Arg)
c.1721A>G (p.Lys574Arg)
c.2423A>G (p.Lys808Arg)
c.2013A>G
c.1999A>G
c.2100A>G
c.2025A>G
c.*2343A>G (n.*2343A>G)
c.2036A>G (p.Lys679Arg)
dbSNP gnomAD v2 gnomAD v4
19g.40396214T>GCA405896928PRXc.2138A>C (p.Lys713Thr)
c.1721A>C (p.Lys574Thr)
c.2423A>C (p.Lys808Thr)
c.2013A>C
c.1999A>C
c.2100A>C
c.2025A>C
c.*2343A>C (n.*2343A>C)
c.2036A>C (p.Lys679Thr)
19g.40396214T=CA2335961522PRXc.2138A= (p.Lys713=)
c.1721A= (p.Lys574=)
c.2423A= (p.Lys808=)
c.2013A=
c.1999A=
c.2100A=
c.2025A=
c.*2343A= (n.*2343A=)
c.2036A= (p.Lys679=)
19g.40396215T>ACA405896929PRXc.2137A>T (p.Lys713Ter)
c.1720A>T (p.Lys574Ter)
c.2422A>T (p.Lys808Ter)
c.2012A>T
c.1998A>T
c.2099A>T
c.2024A>T
c.*2342A>T (n.*2342A>T)
c.2035A>T (p.Lys679Ter)
19g.40396215T>CCA405896930PRXc.2137A>G (p.Lys713Glu)
c.1720A>G (p.Lys574Glu)
c.2422A>G (p.Lys808Glu)
c.2012A>G
c.1998A>G
c.2099A>G
c.2024A>G
c.*2342A>G (n.*2342A>G)
c.2035A>G (p.Lys679Glu)
19g.40396215T>GCA405896931PRXc.2137A>C (p.Lys713Gln)
c.1720A>C (p.Lys574Gln)
c.2422A>C (p.Lys808Gln)
c.2012A>C
c.1998A>C
c.2099A>C
c.2024A>C
c.*2342A>C (n.*2342A>C)
c.2035A>C (p.Lys679Gln)
19g.40396216G>ACA507679440PRXc.2136C>T (p.Pro712=)
c.1719C>T (p.Pro573=)
c.2421C>T (p.Pro807=)
c.2011C>T
c.1997C>T
c.2098C>T
c.2023C>T
c.*2341C>T (n.*2341C>T)
c.2034C>T (p.Pro678=)
19g.40396216G>CCA9444117PRXc.2136C>G (p.Pro712=)
c.1719C>G (p.Pro573=)
c.2421C>G (p.Pro807=)
c.2011C>G
c.1997C>G
c.2098C>G
c.2023C>G
c.*2341C>G (n.*2341C>G)
c.2034C>G (p.Pro678=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396216G=CA2335961523PRXc.2136C= (p.Pro712=)
c.1719C= (p.Pro573=)
c.2421C= (p.Pro807=)
c.2011C=
c.1997C=
c.2098C=
c.2023C=
c.*2341C= (n.*2341C=)
c.2034C= (p.Pro678=)
19g.40396216G>TCA507679441PRXc.2136C>A (p.Pro712=)
c.1719C>A (p.Pro573=)
c.2421C>A (p.Pro807=)
c.2011C>A
c.1997C>A
c.2098C>A
c.2023C>A
c.*2341C>A (n.*2341C>A)
c.2034C>A (p.Pro678=)
gnomAD v3 gnomAD v4
19g.40396217G>ACA405896932PRXc.2135C>T (p.Pro712Leu)
c.1718C>T (p.Pro573Leu)
c.2420C>T (p.Pro807Leu)
c.2010C>T
c.1996C>T
c.2097C>T
c.2022C>T
c.*2340C>T (n.*2340C>T)
c.2033C>T (p.Pro678Leu)
dbSNP gnomAD v4
19g.40396217G>CCA405896933PRXc.2135C>G (p.Pro712Arg)
c.1718C>G (p.Pro573Arg)
c.2420C>G (p.Pro807Arg)
c.2010C>G
c.1996C>G
c.2097C>G
c.2022C>G
c.*2340C>G (n.*2340C>G)
c.2033C>G (p.Pro678Arg)
19g.40396217G=CA2335961524PRXc.2135C= (p.Pro712=)
c.1718C= (p.Pro573=)
c.2420C= (p.Pro807=)
c.2010C=
c.1996C=
c.2097C=
c.2022C=
c.*2340C= (n.*2340C=)
c.2033C= (p.Pro678=)
19g.40396217G>TCA405896934PRXc.2135C>A (p.Pro712His)
c.1718C>A (p.Pro573His)
c.2420C>A (p.Pro807His)
c.2010C>A
c.1996C>A
c.2097C>A
c.2022C>A
c.*2340C>A (n.*2340C>A)
c.2033C>A (p.Pro678His)
19g.40396218G>ACA405896935PRXc.2134C>T (p.Pro712Ser)
c.1717C>T (p.Pro573Ser)
c.2419C>T (p.Pro807Ser)
c.2009C>T
c.1995C>T
c.2096C>T
c.2021C>T
c.*2339C>T (n.*2339C>T)
c.2032C>T (p.Pro678Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.40396218G>CCA405896937PRXc.2134C>G (p.Pro712Ala)
c.1717C>G (p.Pro573Ala)
c.2419C>G (p.Pro807Ala)
c.2009C>G
c.1995C>G
c.2096C>G
c.2021C>G
c.*2339C>G (n.*2339C>G)
c.2032C>G (p.Pro678Ala)
19g.40396218G=CA2335961525PRXc.2134C= (p.Pro712=)
c.1717C= (p.Pro573=)
c.2419C= (p.Pro807=)
c.2009C=
c.1995C=
c.2096C=
c.2021C=
c.*2339C= (n.*2339C=)
c.2032C= (p.Pro678=)
19g.40396218G>TCA405896936PRXc.2134C>A (p.Pro712Thr)
c.1717C>A (p.Pro573Thr)
c.2419C>A (p.Pro807Thr)
c.2009C>A
c.1995C>A
c.2096C>A
c.2021C>A
c.*2339C>A (n.*2339C>A)
c.2032C>A (p.Pro678Thr)
19g.40396219delCA2814403767PRXc.2133del (p.Val714SerfsTer4)
c.1716del (p.Val575SerfsTer4)
c.2418del (p.Val809SerfsTer4)
c.2008del
c.1994del
c.2095del
c.2020del
c.*2338del (n.*2338del)
c.2031del (p.Val680SerfsTer4)
19g.40396219C>ACA507679443PRXc.2133G>T (p.Leu711=)
c.1716G>T (p.Leu572=)
c.2418G>T (p.Leu806=)
c.2008G>T
c.1994G>T
c.2095G>T
c.2020G>T
c.*2338G>T (n.*2338G>T)
c.2031G>T (p.Leu677=)
dbSNP gnomAD v3 gnomAD v4
19g.40396219C=CA2335961526PRXc.2133G= (p.Leu711=)
c.1716G= (p.Leu572=)
c.2418G= (p.Leu806=)
c.2008G=
c.1994G=
c.2095G=
c.2020G=
c.*2338G= (n.*2338G=)
c.2031G= (p.Leu677=)
19g.40396219C>GCA507679444PRXc.2133G>C (p.Leu711=)
c.1716G>C (p.Leu572=)
c.2418G>C (p.Leu806=)
c.2008G>C
c.1994G>C
c.2095G>C
c.2020G>C
c.*2338G>C (n.*2338G>C)
c.2031G>C (p.Leu677=)
19g.40396219C>TCA507679445PRXc.2133G>A (p.Leu711=)
c.1716G>A (p.Leu572=)
c.2418G>A (p.Leu806=)
c.2008G>A
c.1994G>A
c.2095G>A
c.2020G>A
c.*2338G>A (n.*2338G>A)
c.2031G>A (p.Leu677=)
19g.40396220A>CCA405896938PRXc.2132T>G (p.Leu711Arg)
c.1715T>G (p.Leu572Arg)
c.2417T>G (p.Leu806Arg)
c.2007T>G
c.1993T>G
c.2094T>G
c.2019T>G
c.*2337T>G (n.*2337T>G)
c.2030T>G (p.Leu677Arg)
19g.40396220A>GCA405896940PRXc.2132T>C (p.Leu711Pro)
c.1715T>C (p.Leu572Pro)
c.2417T>C (p.Leu806Pro)
c.2007T>C
c.1993T>C
c.2094T>C
c.2019T>C
c.*2337T>C (n.*2337T>C)
c.2030T>C (p.Leu677Pro)
19g.40396220A>TCA405896939PRXc.2132T>A (p.Leu711Gln)
c.1715T>A (p.Leu572Gln)
c.2417T>A (p.Leu806Gln)
c.2007T>A
c.1993T>A
c.2094T>A
c.2019T>A
c.*2337T>A (n.*2337T>A)
c.2030T>A (p.Leu677Gln)
19g.40396221G>ACA507679452PRXc.2131C>T (p.Leu711=)
c.1714C>T (p.Leu572=)
c.2416C>T (p.Leu806=)
c.2006C>T
c.1992C>T
c.2093C>T
c.2018C>T
c.*2336C>T (n.*2336C>T)
c.2029C>T (p.Leu677=)
19g.40396221G>CCA405896941PRXc.2131C>G (p.Leu711Val)
c.1714C>G (p.Leu572Val)
c.2416C>G (p.Leu806Val)
c.2006C>G
c.1992C>G
c.2093C>G
c.2018C>G
c.*2336C>G (n.*2336C>G)
c.2029C>G (p.Leu677Val)
19g.40396221G>TCA405896942PRXc.2131C>A (p.Leu711Met)
c.1714C>A (p.Leu572Met)
c.2416C>A (p.Leu806Met)
c.2006C>A
c.1992C>A
c.2093C>A
c.2018C>A
c.*2336C>A (n.*2336C>A)
c.2029C>A (p.Leu677Met)
19g.40396222C>ACA405896943PRXc.2130G>T (p.Gln710His)
c.1713G>T (p.Gln571His)
c.2415G>T (p.Gln805His)
c.2005G>T
c.1991G>T
c.2092G>T
c.2017G>T
c.*2335G>T (n.*2335G>T)
c.2028G>T (p.Gln676His)
19g.40396222C>GCA405896944PRXc.2130G>C (p.Gln710His)
c.1713G>C (p.Gln571His)
c.2415G>C (p.Gln805His)
c.2005G>C
c.1991G>C
c.2092G>C
c.2017G>C
c.*2335G>C (n.*2335G>C)
c.2028G>C (p.Gln676His)
gnomAD v4
19g.40396222C>TCA507679453PRXc.2130G>A (p.Gln710=)
c.1713G>A (p.Gln571=)
c.2415G>A (p.Gln805=)
c.2005G>A
c.1991G>A
c.2092G>A
c.2017G>A
c.*2335G>A (n.*2335G>A)
c.2028G>A (p.Gln676=)
gnomAD v4
19g.40396223T>ACA405896945PRXc.2129A>T (p.Gln710Leu)
c.1712A>T (p.Gln571Leu)
c.2414A>T (p.Gln805Leu)
c.2004A>T
c.1990A>T
c.2091A>T
c.2016A>T
c.*2334A>T (n.*2334A>T)
c.2027A>T (p.Gln676Leu)
19g.40396223T>CCA405896946PRXc.2129A>G (p.Gln710Arg)
c.1712A>G (p.Gln571Arg)
c.2414A>G (p.Gln805Arg)
c.2004A>G
c.1990A>G
c.2091A>G
c.2016A>G
c.*2334A>G (n.*2334A>G)
c.2027A>G (p.Gln676Arg)
19g.40396223T>GCA405896947PRXc.2129A>C (p.Gln710Pro)
c.1712A>C (p.Gln571Pro)
c.2414A>C (p.Gln805Pro)
c.2004A>C
c.1990A>C
c.2091A>C
c.2016A>C
c.*2334A>C (n.*2334A>C)
c.2027A>C (p.Gln676Pro)
gnomAD v4
19g.40396224G>ACA405896948PRXc.2128C>T (p.Gln710Ter)
c.1711C>T (p.Gln571Ter)
c.2413C>T (p.Gln805Ter)
c.2003C>T
c.1989C>T
c.2090C>T
c.2015C>T
c.*2333C>T (n.*2333C>T)
c.2026C>T (p.Gln676Ter)
19g.40396224G>CCA405896949PRXc.2128C>G (p.Gln710Glu)
c.1711C>G (p.Gln571Glu)
c.2413C>G (p.Gln805Glu)
c.2003C>G
c.1989C>G
c.2090C>G
c.2015C>G
c.*2333C>G (n.*2333C>G)
c.2026C>G (p.Gln676Glu)
19g.40396224G>TCA405896950PRXc.2128C>A (p.Gln710Lys)
c.1711C>A (p.Gln571Lys)
c.2413C>A (p.Gln805Lys)
c.2003C>A
c.1989C>A
c.2090C>A
c.2015C>A
c.*2333C>A (n.*2333C>A)
c.2026C>A (p.Gln676Lys)
19g.40396225C>ACA507679457PRXc.2127G>T (p.Val709=)
c.1710G>T (p.Val570=)
c.2412G>T (p.Val804=)
c.2002G>T
c.1988G>T
c.2089G>T
c.2014G>T
c.*2332G>T (n.*2332G>T)
c.2025G>T (p.Val675=)
19g.40396225C=CA2335961527PRXc.2127G= (p.Val709=)
c.1710G= (p.Val570=)
c.2412G= (p.Val804=)
c.2002G=
c.1988G=
c.2089G=
c.2014G=
c.*2332G= (n.*2332G=)
c.2025G= (p.Val675=)
19g.40396225C>GCA507679456PRXc.2127G>C (p.Val709=)
c.1710G>C (p.Val570=)
c.2412G>C (p.Val804=)
c.2002G>C
c.1988G>C
c.2089G>C
c.2014G>C
c.*2332G>C (n.*2332G>C)
c.2025G>C (p.Val675=)
19g.40396225C>TCA507679454PRXc.2127G>A (p.Val709=)
c.1710G>A (p.Val570=)
c.2412G>A (p.Val804=)
c.2002G>A
c.1988G>A
c.2089G>A
c.2014G>A
c.*2332G>A (n.*2332G>A)
c.2025G>A (p.Val675=)
ClinVar dbSNP
19g.40396226A>CCA405896953PRXc.2126T>G (p.Val709Gly)
c.1709T>G (p.Val570Gly)
c.2411T>G (p.Val804Gly)
c.2001T>G
c.1987T>G
c.2088T>G
c.2013T>G
c.*2331T>G (n.*2331T>G)
c.2024T>G (p.Val675Gly)
19g.40396226A>GCA405896952PRXc.2126T>C (p.Val709Ala)
c.1709T>C (p.Val570Ala)
c.2411T>C (p.Val804Ala)
c.2001T>C
c.1987T>C
c.2088T>C
c.2013T>C
c.*2331T>C (n.*2331T>C)
c.2024T>C (p.Val675Ala)
19g.40396226A>TCA405896951PRXc.2126T>A (p.Val709Glu)
c.1709T>A (p.Val570Glu)
c.2411T>A (p.Val804Glu)
c.2001T>A
c.1987T>A
c.2088T>A
c.2013T>A
c.*2331T>A (n.*2331T>A)
c.2024T>A (p.Val675Glu)
19g.40396227C>ACA405896954PRXc.2125G>T (p.Val709Leu)
c.1708G>T (p.Val570Leu)
c.2410G>T (p.Val804Leu)
c.2000G>T
c.1986G>T
c.2087G>T
c.2012G>T
c.*2330G>T (n.*2330G>T)
c.2023G>T (p.Val675Leu)
19g.40396227C=CA2335961528PRXc.2125G= (p.Val709=)
c.1708G= (p.Val570=)
c.2410G= (p.Val804=)
c.2000G=
c.1986G=
c.2087G=
c.2012G=
c.*2330G= (n.*2330G=)
c.2023G= (p.Val675=)
19g.40396227C>GCA405896955PRXc.2125G>C (p.Val709Leu)
c.1708G>C (p.Val570Leu)
c.2410G>C (p.Val804Leu)
c.2000G>C
c.1986G>C
c.2087G>C
c.2012G>C
c.*2330G>C (n.*2330G>C)
c.2023G>C (p.Val675Leu)
19g.40396227C>TCA405896956PRXc.2125G>A (p.Val709Met)
c.1708G>A (p.Val570Met)
c.2410G>A (p.Val804Met)
c.2000G>A
c.1986G>A
c.2087G>A
c.2012G>A
c.*2330G>A (n.*2330G>A)
c.2023G>A (p.Val675Met)
dbSNP gnomAD v2 gnomAD v4
19g.40396228C>ACA405896957PRXc.2124G>T (p.Glu708Asp)
c.1707G>T (p.Glu569Asp)
c.2409G>T (p.Glu803Asp)
c.1999G>T
c.1985G>T
c.2086G>T
c.2011G>T
c.*2329G>T (n.*2329G>T)
c.2022G>T (p.Glu674Asp)
19g.40396228C=CA2335961529PRXc.2124G= (p.Glu708=)
c.1707G= (p.Glu569=)
c.2409G= (p.Glu803=)
c.1999G=
c.1985G=
c.2086G=
c.2011G=
c.*2329G= (n.*2329G=)
c.2022G= (p.Glu674=)
19g.40396228C>GCA9444118PRXc.2124G>C (p.Glu708Asp)
c.1707G>C (p.Glu569Asp)
c.2409G>C (p.Glu803Asp)
c.1999G>C
c.1985G>C
c.2086G>C
c.2011G>C
c.*2329G>C (n.*2329G>C)
c.2022G>C (p.Glu674Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.40396228C>TCA507679458PRXc.2124G>A (p.Glu708=)
c.1707G>A (p.Glu569=)
c.2409G>A (p.Glu803=)
c.1999G>A
c.1985G>A
c.2086G>A
c.2011G>A
c.*2329G>A (n.*2329G>A)
c.2022G>A (p.Glu674=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40396229T>ACA405896958PRXc.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)
19g.40396229T>CCA405896959PRXc.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)
19g.40396229T>GCA405896960PRXc.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)
19g.40396258_40396521dupCA2580097269PRXc.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
19g.40396258_40396521delCA995889408PRXc.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
19g.40396230C>ACA405896961PRXc.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)
19g.40396230C=CA2335961530PRXc.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=)
19g.40396230C>GCA405896962PRXc.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)
19g.40396230C>TCA9444119PRXc.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
19g.40396231T>ACA507679463PRXc.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
19g.40396231T>CCA507679464PRXc.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
19g.40396231T>GCA507679465PRXc.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
19g.40396231T=CA2335961532PRXc.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=)
19g.40396231_40396309delinsTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGCA2335961531PRXc.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=)
19g.40396232G>ACA405896964PRXc.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
19g.40396232G>CCA405896965PRXc.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
19g.40396232G=CA2335961533PRXc.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=)
19g.40396232G>TCA405896963PRXc.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)
19g.40396237_40396314delCA995889431PRXc.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
19g.40396252_40396407delCA995889434PRXc.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
19g.40396233G>ACA405896966PRXc.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)
19g.40396233G>CCA405896967PRXc.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)
19g.40396233G>TCA405896968PRXc.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)
19g.40396234G>ACA507679472PRXc.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
19g.40396234G>CCA507679473PRXc.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=)
19g.40396234G>TCA507679474PRXc.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=)
19g.40396235A>CCA405896969PRXc.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)
19g.40396235A>GCA405896970PRXc.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)
19g.40396235A>TCA405896971PRXc.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)
19g.40396236G>ACA405896972PRXc.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
19g.40396236G>CCA405896973PRXc.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)
19g.40396236G>TCA405896974PRXc.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)
19g.40396237G>ACA9444120PRXc.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
19g.40396237G>CCA308419658PRXc.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
19g.40396237G=CA2335961534PRXc.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=)
19g.40396237G>TCA405896975PRXc.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)
19g.40396238T>ACA405896977PRXc.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)
19g.40396238T>CCA405896978PRXc.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
19g.40396238T>GCA405896976PRXc.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)
19g.40396239G>ACA405896979PRXc.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
19g.40396239G>CCA405896980PRXc.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)
19g.40396239G=CA2335961535PRXc.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=)
19g.40396239G>TCA405896981PRXc.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)
19g.40396240C>ACA507679477PRXc.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=)
19g.40396240C=CA2335961536PRXc.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=)
19g.40396240C>GCA507679478PRXc.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=)
19g.40396240C>TCA507679479PRXc.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
19g.40396241A>CCA405896982PRXc.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)
19g.40396241A>GCA405896983PRXc.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)
19g.40396241A>TCA405896984PRXc.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)
19g.40396242C>ACA405896985PRXc.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)
19g.40396242C>GCA405896987PRXc.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)
19g.40396242C>TCA405896986PRXc.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
19g.40396243A>CCA405896988PRXc.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)
19g.40396243A>GCA507679483PRXc.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
19g.40396243A>TCA405896989PRXc.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)
19g.40396244T>ACA405896990PRXc.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)
19g.40396244T>CCA405896991PRXc.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)
19g.40396244T>GCA405896992PRXc.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)
19g.40396245C>ACA405896994PRXc.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)
19g.40396245C=CA2335961537PRXc.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=)
19g.40396245C>GCA9444121PRXc.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
19g.40396245C>TCA405896993PRXc.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
19g.40396245_40396246insACA308419665PRXc.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
19g.40396246G>ACA9444122PRXc.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
19g.40396246G>CCA507679485PRXc.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
19g.40396246G=CA2335961538PRXc.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=)
19g.40396246G>TCA507679484PRXc.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
19g.40396248delCA2548563499PRXc.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)
19g.40396247G>ACA405896997PRXc.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
19g.40396247G>CCA405896995PRXc.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)
19g.40396247G>TCA405896996PRXc.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)
19g.40396248G>ACA405896998PRXc.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
19g.40396248G>CCA405896999PRXc.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)
19g.40396248G>TCA405897000PRXc.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)
19g.40396249C>ACA507679487PRXc.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=)
19g.40396249C>GCA507679488PRXc.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=)
19g.40396249C>TCA507679489PRXc.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=)
19g.40396250A>CCA405897001PRXc.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)
19g.40396250A>GCA405897002PRXc.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)
19g.40396250A>TCA405897003PRXc.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)
19g.40396251C>ACA405897004PRXc.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)
19g.40396251C=CA2335961539PRXc.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=)
19g.40396251C>GCA405897005PRXc.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)
19g.40396251C>TCA9444123PRXc.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
19g.40396252G>ACA9444124PRXc.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
19g.40396252G>CCA507679492PRXc.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=)
19g.40396252G=CA2335961540PRXc.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=)
19g.40396252G>TCA507679491PRXc.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=)
19g.40396253G>ACA405897006PRXc.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
19g.40396253G>CCA405897007PRXc.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)
19g.40396253G>TCA405897008PRXc.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)
19g.40396253_40396254delinsGCCA2335961541PRXc.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=)
19g.40396258_40396413delCA995889466PRXc.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
19g.40396254C>ACA405897009PRXc.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)
19g.40396254C=CA2335961542PRXc.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=)
19g.40396254C>GCA405897011PRXc.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)
19g.40396254C>TCA405897010PRXc.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
19g.40396255delCA343105PRXc.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
19g.40396255C>ACA405897012PRXc.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)
19g.40396255C=CA2335961543PRXc.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=)
19g.40396255C>GCA405897013PRXc.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)
19g.40396255C>TCA10603875PRXc.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
19g.40396256A>CCA405897014PRXc.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)
19g.40396256A>GCA405897015PRXc.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)
19g.40396256A>TCA405897016PRXc.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)
19g.40396257T>ACA405897017PRXc.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)
19g.40396257T>CCA308419687PRXc.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
19g.40396257T>GCA405897018PRXc.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)
19g.40396257T=CA2335961544PRXc.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=)
19g.40396258T>ACA405897019PRXc.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)
19g.40396258T>CCA507679501PRXc.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
19g.40396258T>GCA405897020PRXc.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)
19g.40396258T=CA2335961545PRXc.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=)
19g.40396259T>ACA405897023PRXc.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)
19g.40396259T>CCA405897021PRXc.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)
19g.40396259T>GCA405897022PRXc.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
19g.40396259T=CA2335961546PRXc.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=)
19g.40396260C>ACA405897024PRXc.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)
19g.40396260C=CA2335961547PRXc.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=)
19g.40396260C>GCA405897025PRXc.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)
19g.40396260C>TCA308419691PRXc.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
19g.40396261A=CA2335961548PRXc.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=)
19g.40396261A>CCA507679506PRXc.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=)
19g.40396261A>GCA507679507PRXc.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
19g.40396261A>TCA507679508PRXc.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
19g.40396262G>ACA405897026PRXc.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)
19g.40396262G>CCA405897027PRXc.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)
19g.40396262G>TCA405897028PRXc.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)
19g.40396263G>ACA405897029PRXc.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
19g.40396263G>CCA405897030PRXc.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)
19g.40396263G>TCA405897031PRXc.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
19g.40396264C>ACA507679511PRXc.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=)
19g.40396264C=CA2335961549PRXc.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=)
19g.40396264C>GCA507679512PRXc.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=)
19g.40396264C>TCA308419696PRXc.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
19g.40396265A>CCA405897032PRXc.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)
19g.40396265A>GCA405897033PRXc.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)
19g.40396265A>TCA405897034PRXc.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)
19g.40396266C>ACA405897035PRXc.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)
19g.40396266C=CA2335961550PRXc.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=)
19g.40396266C>GCA9444125PRXc.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
19g.40396266C>TCA308419697PRXc.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
19g.40396267C>ACA405897036PRXc.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)
19g.40396267C=CA2335961551PRXc.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=)
19g.40396267C>GCA9444126PRXc.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
19g.40396267C>TCA507679515PRXc.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=)
19g.40396268T>ACA405897037PRXc.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)
19g.40396268T>CCA405897038PRXc.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)
19g.40396268T>GCA405897039PRXc.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
19g.40396268T=CA2335961552PRXc.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=)
19g.40396269T>ACA405897040PRXc.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)
19g.40396269T>CCA308419712PRXc.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
19g.40396269T>GCA405897041PRXc.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)
19g.40396269T=CA2335961553PRXc.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=)
19g.40396269_40396270insCCA633466291PRXc.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
19g.40396270G>ACA507679516PRXc.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=)
19g.40396270G>CCA507679518PRXc.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
19g.40396270G=CA2335961554PRXc.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=)
19g.40396270G>TCA507679520PRXc.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
19g.40396272_40396273delCA2510579237PRXc.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)
19g.40396271G>ACA405897042PRXc.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)
19g.40396271G>CCA405897043PRXc.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)
19g.40396271G>TCA405897044PRXc.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)
19g.40396272_40396273insAGTTGCACTTCAGGCA633466292PRXc.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
19g.40396272G>ACA405897045PRXc.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)
19g.40396272G>CCA405897046PRXc.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)
19g.40396272G>TCA405897047PRXc.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
19g.40396273_40396275dupCA2585127085PRXc.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
19g.40396273G>ACA507679521PRXc.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=)
19g.40396273G>CCA507679523PRXc.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=)
19g.40396273G>TCA507679522PRXc.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=)
19g.40396274delCA2585127086PRXc.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
19g.40396274A>CCA405897050PRXc.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)
19g.40396274A>GCA405897048PRXc.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)
19g.40396274A>TCA405897049PRXc.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)
19g.40396275G>ACA405897051PRXc.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)
19g.40396275G>CCA9444127PRXc.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
19g.40396275G=CA2335961555PRXc.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=)
19g.40396275G>TCA405897052PRXc.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)

Number of alleles fetched